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 |
|---|---|---|---|---|---|
Gene DES (desmin) variant at chromosome position 219418716 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Desmin-related_myofibrillar_myopathy'] | GGGCTTTGAAAAGAGTGCAGTAACAAAGCCCCCTTTACAATTTACCCGGCACATTCACACCCATCCTGAGGCCAAAGCCACAGGCTGTGAGGTCTCACTGTCTCAGCTTCCTGAGCTATAAAATGGGAATGATGCTAGTGTCTACCTCCTAGGGTTGGAGAATTGGGGGTCATGGGTGTGAAGTGCTCAGCAGCTTGGCCCACACTAGGTGGTCAGTACATGTAAGGTATTATTGTTGCTACATACATTAGTAGGGCCTGGGCCTCTTTAAACCTTTATAGGGTAGCATGGCAAGGCTAACCATCCTCACTTTATATCTG... | GGGCTTTGAAAAGAGTGCAGTAACAAAGCCCCCTTTACAATTTACCCGGCACATTCACACCCATCCTGAGGCCAAAGCCACAGGCTGTGAGGTCTCACTGTCTCAGCTTCCTGAGCTATAAAATGGGAATGATGCTAGTGTCTACCTCCTAGGGTTGGAGAATTGGGGGTCATGGGTGTGAAGTGCTCAGCAGCTTGGCCCACACTAGGTGGTCAGTACATGTAAGGTATTATTGTTGCTACATACATTAGTAGGGCCTGGGCCTCTTTAAACCTTTATAGGGTAGCATGGCAAGGCTAACCATCCTCACTTTATATCTG... | pathogenic | 56,864 |
Variant in DES (desmin), chromosome 2, position 219418860—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['DES-related_disorder', 'Desmin-related_myofibrillar_myopathy'] | CCTCCTAGGGTTGGAGAATTGGGGGTCATGGGTGTGAAGTGCTCAGCAGCTTGGCCCACACTAGGTGGTCAGTACATGTAAGGTATTATTGTTGCTACATACATTAGTAGGGCCTGGGCCTCTTTAAACCTTTATAGGGTAGCATGGCAAGGCTAACCATCCTCACTTTATATCTGACAAGCTGGGGCTCAGAGAGGACGTGCCTGAGCTGGGGCTCAGACAAGGACACACCTACTAGTAACCCCTCCAGCTGGTGATGGCAGGTCTAGGGTAGGACCAGTGACTGGCTCCTAATCGAGCACTCTATTTTCAGGGTTTGC... | CCTCCTAGGGTTGGAGAATTGGGGGTCATGGGTGTGAAGTGCTCAGCAGCTTGGCCCACACTAGGTGGTCAGTACATGTAAGGTATTATTGTTGCTACATACATTAGTAGGGCCTGGGCCTCTTTAAACCTTTATAGGGTAGCATGGCAAGGCTAACCATCCTCACTTTATATCTGACAAGCTGGGGCTCAGAGAGGACGTGCCTGAGCTGGGGCTCAGACAAGGACACACCTACTAGTAACCCCTCCAGCTGGTGATGGCAGGTCTAGGGTAGGACCAGTGACTGGCTCCTAATCGAGCACTCTATTTTCAGGGTTTGC... | pathogenic | 56,880 |
Considering the variant on chromosome 2, location 219420164, involving gene DES (desmin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CAGGGCTGAAAGAGGCCCGCCTGGGGGCTGCAGACATGCTTGCTGCCTGCCCTGGCGAAGGATTGGCAGGCTTGCCCGTCACAGGACCCCCGCTGGCTGACTCAGGGGCGCAGGCCTCTTGCGGGGGAGCTGGCCTCCCCGCCCCCACGGCCACGGGCCGCCCTTTCCTGGCAGGACAGCGGGATCTTGCAGCTGTCAGGGGAGGGGAGGCGGGGGCTGATGTCAGGAGGGATACAAATAGTGCCGACGGCTGGGGGCCCTGTCTCCCCTCGCCGCATCCACTCTCCGGCCGGCCGCCTGCCCGCCGCCTCCTCCGTGCG... | CAGGGCTGAAAGAGGCCCGCCTGGGGGCTGCAGACATGCTTGCTGCCTGCCCTGGCGAAGGATTGGCAGGCTTGCCCGTCACAGGACCCCCGCTGGCTGACTCAGGGGCGCAGGCCTCTTGCGGGGGAGCTGGCCTCCCCGCCCCCACGGCCACGGGCCGCCCTTTCCTGGCAGGACAGCGGGATCTTGCAGCTGTCAGGGGAGGGGAGGCGGGGGCTGATGTCAGGAGGGATACAAATAGTGCCGACGGCTGGGGGCCCTGTCTCCCCTCGCCGCATCCACTCTCCGGCCGGCCGCCTGCCCGCCGCCTCCTCCGTGCG... | benign | 56,906 |
Clinically, how would you classify the variant at chromosome 2, position 219420658, gene DES (desmin): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | ACGTCCCGCGTGTACCAGGTGTCGCGCACGTCGGGCGGGGCCGGGGGCCTGGGGTCGCTGCGGGCCAGCCGGCTGGGGACCACCCGCACGCCCTCCTCCTACGGCGCAGGCGAGCTGCTGGACTTCTCACTGGCCGACGCGGTGAACCAGGAGTTTCTGACCACGCGCACCAACGAGAAGGTGGAGCTGCAGGAGCTCAATGACCGCTTCGCCAACTACATCGAGAAGGTGCGCTTCCTGGAGCAGCAGAACGCGGCGCTCGCCGCCGAAGTGAACCGGCTCAAGGGCCGCGAGCCGACGCGAGTGGCCGAGCTCTACGA... | ACGTCCCGCGTGTACCAGGTGTCGCGCACGTCGGGCGGGGCCGGGGGCCTGGGGTCGCTGCGGGCCAGCCGGCTGGGGACCACCCGCACGCCCTCCTCCTACGGCGCAGGCGAGCTGCTGGACTTCTCACTGGCCGACGCGGTGAACCAGGAGTTTCTGACCACGCGCACCAACGAGAAGGTGGAGCTGCAGGAGCTCAATGACCGCTTCGCCAACTACATCGAGAAGGTGCGCTTCCTGGAGCAGCAGAACGCGGCGCTCGCCGCCGAAGTGAACCGGCTCAAGGGCCGCGAGCCGACGCGAGTGGCCGAGCTCTACGA... | benign | 56,929 |
Mutation at chromosome 2, position 219420873, within DES (desmin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardiomyopathy', 'DES-related_disorder'] | CTACATCGAGAAGGTGCGCTTCCTGGAGCAGCAGAACGCGGCGCTCGCCGCCGAAGTGAACCGGCTCAAGGGCCGCGAGCCGACGCGAGTGGCCGAGCTCTACGAGGAGGAGCTGCGGGAGCTGCGGCGCCAGGTGGAGGTGCTCACTAACCAGCGCGCGCGCGTCGACGTCGAGCGCGACAACCTGCTCGACGACCTGCAGCGGCTCAAGGCCAAGTGAGGGCCCGGCACCCCAGACTCCTCTTTCTGCGGGCAGGGCACAGGAGGCTAGGCCTGGGGTCTGGGGTCCCGCTGTCAGCACCTGCCTTCTCCCGGGGCCC... | CTACATCGAGAAGGTGCGCTTCCTGGAGCAGCAGAACGCGGCGCTCGCCGCCGAAGTGAACCGGCTCAAGGGCCGCGAGCCGACGCGAGTGGCCGAGCTCTACGAGGAGGAGCTGCGGGAGCTGCGGCGCCAGGTGGAGGTGCTCACTAACCAGCGCGCGCGCGTCGACGTCGAGCGCGACAACCTGCTCGACGACCTGCAGCGGCTCAAGGCCAAGTGAGGGCCCGGCACCCCAGACTCCTCTTTCTGCGGGCAGGGCACAGGAGGCTAGGCCTGGGGTCTGGGGTCCCGCTGTCAGCACCTGCCTTCTCCCGGGGCCC... | pathogenic | 56,936 |
Regarding the variant at chromosome 2 and position 219421528, affecting gene DES (desmin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Desmin-related_myofibrillar_myopathy'] | ACAGCTCTCAGCTCAGCTGTGATGAGGCCCTGGGGGAGGTGGGGGGAGGGGGGAGCTTGGCCCTGGGGCCTTGCCGAGACTGTGTCTTTTTACAAGGTGAATGGACAGGCTGGAGAAAAAGGGAGTAGGTGGGGGTCACAGCTCTCAGAGAGCTTGGGAGGACCTGACTGTAGACTTCACCAGGCTCCAAGAACGAAAAGGGCAGCAAGTGTAGCATATTTGTTGGTCCCACTTCTGACAGGCCAAGTGAGCACAGTCACCCTCCTGCCACCAAAGTCATAAATATTAATTGAGCAGCTATATTGGCCAGGCTGGAGCTG... | ACAGCTCTCAGCTCAGCTGTGATGAGGCCCTGGGGGAGGTGGGGGGAGGGGGGAGCTTGGCCCTGGGGCCTTGCCGAGACTGTGTCTTTTTACAAGGTGAATGGACAGGCTGGAGAAAAAGGGAGTAGGTGGGGGTCACAGCTCTCAGAGAGCTTGGGAGGACCTGACTGTAGACTTCACCAGGCTCCAAGAACGAAAAGGGCAGCAAGTGTAGCATATTTGTTGGTCCCACTTCTGACAGGCCAAGTGAGCACAGTCACCCTCCTGCCACCAAAGTCATAAATATTAATTGAGCAGCTATATTGGCCAGGCTGGAGCTG... | pathogenic | 56,959 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 219423783, gene DES (desmin): what disease(s) if pathogenic? | pathogenic; ['Desmin-related_myofibrillar_myopathy'] | TGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGCAGCTGGGATTACAGGCGCCTACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGGCAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCGTGGAAACAATTTTATACAAGAGGCCACTGCTCTATTAATTGCAGAGAATTAACCAAGGCCACCTGGGTAAAAAGCAATTTAATTAACAG... | TGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGCAGCTGGGATTACAGGCGCCTACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGGCAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCGTGGAAACAATTTTATACAAGAGGCCACTGCTCTATTAATTGCAGAGAATTAACCAAGGCCACCTGGGTAAAAAGCAATTTAATTAACAG... | pathogenic | 56,966 |
Considering the variant on chromosome 2, location 219490449, involving gene SPEG, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Myopathy,_centronuclear,_5'] | GCACGGTTAGGGGGGATGCTGGAGTGGGGAGTGAGTGAGGGGGCCTGGACATGTGCTGCCTCACTCAGCAGCAACTCCTGCTCCTCCCTGTCCCCAGACAAGAAGTCCTTGAGGTCAGAGCCCTCAGTGATCATCGTGTCCTGCAAAGATGGGCGGCAGCTGCTCAGCATCCCCCGGGCGGGCAAGCGGCACGCCGGTCTCTATGAGTGCTCGGCCACCAACGTACTGGGCAGCATCACCAGCTCCTGTACCGTGGCTGTGGCCCGTGAGCCTGGGGCAGGGCCCCAGGGGGGTAGTGATGGGGATGGTGGGACAGGGCT... | GCACGGTTAGGGGGGATGCTGGAGTGGGGAGTGAGTGAGGGGGCCTGGACATGTGCTGCCTCACTCAGCAGCAACTCCTGCTCCTCCCTGTCCCCAGACAAGAAGTCCTTGAGGTCAGAGCCCTCAGTGATCATCGTGTCCTGCAAAGATGGGCGGCAGCTGCTCAGCATCCCCCGGGCGGGCAAGCGGCACGCCGGTCTCTATGAGTGCTCGGCCACCAACGTACTGGGCAGCATCACCAGCTCCTGTACCGTGGCTGTGGCCCGTGAGCCTGGGGCAGGGCCCCAGGGGGGTAGTGATGGGGATGGTGGGACAGGGCT... | pathogenic | 57,081 |
For chromosome 2, position 219550873, gene OBSL1 (obscurin like cytoskeletal adaptor 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GGGGAAACCAGTGAAGAAGCAGCTGTGATTGTCCAGTGGAAAGATGATGATGGCTGGCCTAGGTGATTGGGAGAGGGATGACAGCCTGGAAGGGGGTACCTGGAAGCCTAGCAACCTTCCATAAAGACCTATGGAAGAAAAGAACAACAGCGGGAAGTCTCCTCTGAGAGGTAGGAGACCAGGAAAGGAAGTGACAGGGTGGGAGTAAGGGGTTATGGACAAGAGGAATCTGGAAGCCTAGAGCCACAGGTGGGATGAGAGAGGGAGGGCTCAAGGGAAACAAGGCGCACCGTCCTCTGAGCTCCTTCTCTACCCATCCC... | GGGGAAACCAGTGAAGAAGCAGCTGTGATTGTCCAGTGGAAAGATGATGATGGCTGGCCTAGGTGATTGGGAGAGGGATGACAGCCTGGAAGGGGGTACCTGGAAGCCTAGCAACCTTCCATAAAGACCTATGGAAGAAAAGAACAACAGCGGGAAGTCTCCTCTGAGAGGTAGGAGACCAGGAAAGGAAGTGACAGGGTGGGAGTAAGGGGTTATGGACAAGAGGAATCTGGAAGCCTAGAGCCACAGGTGGGATGAGAGAGGGAGGGCTCAAGGGAAACAAGGCGCACCGTCCTCTGAGCTCCTTCTCTACCCATCCC... | benign | 57,138 |
For chromosome 2, position 219562706, gene OBSL1 (obscurin like cytoskeletal adaptor 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GGTAACCACAAGCTCCCACTCAGCCCCCCAGCCTCCACGGAGACTCCTGCCTTGAGCCACACAACCCACCTCCCCCATGGGCTTGCTTGCTCTAAGGGTCTGGGGGATGCAGGCTGGTCCTCTGGGGCCGAGCAAGGCCAGGAGAGACCAGAATGCAGCTGCCTGAGGAGTGGGGAAGGTGATGAGGGCAGTGGGGTGAGGACAGGGTGCAGTGATGGGACCGGGTGGCTGCCCAGCCCCGGGACCTCAGCTTGGTGTCAGACTTGATTCGCTCTGGCCTAGAGCAGAGGTGGTGTTTGTGTGAACTTCCCTGTGAAGAG... | GGTAACCACAAGCTCCCACTCAGCCCCCCAGCCTCCACGGAGACTCCTGCCTTGAGCCACACAACCCACCTCCCCCATGGGCTTGCTTGCTCTAAGGGTCTGGGGGATGCAGGCTGGTCCTCTGGGGCCGAGCAAGGCCAGGAGAGACCAGAATGCAGCTGCCTGAGGAGTGGGGAAGGTGATGAGGGCAGTGGGGTGAGGACAGGGTGCAGTGATGGGACCGGGTGGCTGCCCAGCCCCGGGACCTCAGCTTGGTGTCAGACTTGATTCGCTCTGGCCTAGAGCAGAGGTGGTGTTTGTGTGAACTTCCCTGTGAAGAG... | benign | 57,205 |
Assess the variant on chromosome 2, position 219563457, impacting OBSL1 (obscurin like cytoskeletal adaptor 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | ATATTCCCCCACACCCCACCCCACTTAGCTCCAGTATCAGCTTTGAAAGCACTTCCTGTTGCCTGGCCAGGGTGGTGGCTCCCAGCCCCAGGGTCCCTAGACTGGCCCTCAACAACCCATGCTCTAAGATCCTGGAATGCGTCTGGCTTTCCTGCCAGGCTGTGCAGTCCTAGAGGGAAGCGGCCGTGTCTGCGTGCTGCTGGCTCCCGTGTGTGGAAGGGTGACTTTCTCCCAGGCCTCCCTGACCCTCCTGCTCTGTGCTCTTGAGCCCTCTGCCCTTGGCCCTCACAGTACTTATCACCAGGTGTCACTGTACATTT... | ATATTCCCCCACACCCCACCCCACTTAGCTCCAGTATCAGCTTTGAAAGCACTTCCTGTTGCCTGGCCAGGGTGGTGGCTCCCAGCCCCAGGGTCCCTAGACTGGCCCTCAACAACCCATGCTCTAAGATCCTGGAATGCGTCTGGCTTTCCTGCCAGGCTGTGCAGTCCTAGAGGGAAGCGGCCGTGTCTGCGTGCTGCTGGCTCCCGTGTGTGGAAGGGTGACTTTCTCCCAGGCCTCCCTGACCCTCCTGCTCTGTGCTCTTGAGCCCTCTGCCCTTGGCCCTCACAGTACTTATCACCAGGTGTCACTGTACATTT... | benign | 57,210 |
Mutation found at chromosome 2 position 219565484, gene OBSL1 (obscurin like cytoskeletal adaptor 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['3M_syndrome_2'] | GCAGCACCAGGCGGCGATGGGGCCCCTCATTCTCCAGCACCACGAAGTCACTCTCCTCCACCTCCTGCCCGTCCTTGTACCAACGCACAGGGGCGTCCTCTCGGTCCACCTCACAGGCCAGCATGACACACTCGGAAGTTATGGCATGCACGAACACATGTTCTCGGGGGTCCACGATGTGCACGGGAGGATCTGGGTGGGAAGCAGAGATGGCATTGCACAGACACCCCCGCACAATGAGTCCAAACTAGCTGTGTGGCCAGGAGACACTGTTTCTGCACAAGAGGACACTGGAGGAGGGCTAAGGTCCTGCTGTGTAG... | GCAGCACCAGGCGGCGATGGGGCCCCTCATTCTCCAGCACCACGAAGTCACTCTCCTCCACCTCCTGCCCGTCCTTGTACCAACGCACAGGGGCGTCCTCTCGGTCCACCTCACAGGCCAGCATGACACACTCGGAAGTTATGGCATGCACGAACACATGTTCTCGGGGGTCCACGATGTGCACGGGAGGATCTGGGTGGGAAGCAGAGATGGCATTGCACAGACACCCCCGCACAATGAGTCCAAACTAGCTGTGTGGCCAGGAGACACTGTTTCTGCACAAGAGGACACTGGAGGAGGGCTAAGGTCCTGCTGTGTAG... | pathogenic | 57,219 |
Assess the variant on chromosome 2, position 219567576, impacting OBSL1 (obscurin like cytoskeletal adaptor 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['3M_syndrome_2'] | AGTACAGATAAGCACCCCTCCCTCCGGTGCATGGGCTCAGTGTCGGATGCATCAGAGGGAACAACTGCTGTTGTTGGGGTTTTTAAAAATAGGCTTAGGCTTCCACACCAACCCTTAAGAGCAGTGCTTTGGCTGTGCATAAGAATTCCTAGGGAGCCTGCTAAAAATGCAGAATTCTTGGATTCCCAAGCACGCAGGGGCCAGGAAATCTGCATTATAAACCAGCCCTCCAGGTGGTTCTGATGTCAGTGAACTGGGATCCCATTTTGGAAATGCTGCTCTGGTTGCTGGTCAGGTCTCACCTGGCCCCTCTGCCTGCG... | AGTACAGATAAGCACCCCTCCCTCCGGTGCATGGGCTCAGTGTCGGATGCATCAGAGGGAACAACTGCTGTTGTTGGGGTTTTTAAAAATAGGCTTAGGCTTCCACACCAACCCTTAAGAGCAGTGCTTTGGCTGTGCATAAGAATTCCTAGGGAGCCTGCTAAAAATGCAGAATTCTTGGATTCCCAAGCACGCAGGGGCCAGGAAATCTGCATTATAAACCAGCCCTCCAGGTGGTTCTGATGTCAGTGAACTGGGATCCCATTTTGGAAATGCTGCTCTGGTTGCTGGTCAGGTCTCACCTGGCCCCTCTGCCTGCG... | pathogenic | 57,228 |
Regarding the variant found on chromosome 2 at position 219567845 in gene OBSL1 (obscurin like cytoskeletal adaptor 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic | GAAATGCTGCTCTGGTTGCTGGTCAGGTCTCACCTGGCCCCTCTGCCTGCGATGCTGACAGTGAATCACCCCAAGACCCCGTGCATGGGTGCCGACAGATTCCTTGATTGGTCTTACAAACTCCAGCAATGGTGACATGGCAAATGCTAGCGTGATCCTTGAACTTTGAGCGCCCCACCTCCAGCTGTTCTCCTCAGGGATGCCTCATTCCCCTCCTTCCCCCTTTCAACAGGTGGCACAGTGTGATCAGGAGCCCGACTGCCTGGGTTCATAATTCAGCACCTGTGCTCATTAGCTCCGTACTTTGAGCAAGTCACTTA... | GAAATGCTGCTCTGGTTGCTGGTCAGGTCTCACCTGGCCCCTCTGCCTGCGATGCTGACAGTGAATCACCCCAAGACCCCGTGCATGGGTGCCGACAGATTCCTTGATTGGTCTTACAAACTCCAGCAATGGTGACATGGCAAATGCTAGCGTGATCCTTGAACTTTGAGCGCCCCACCTCCAGCTGTTCTCCTCAGGGATGCCTCATTCCCCTCCTTCCCCCTTTCAACAGGTGGCACAGTGTGATCAGGAGCCCGACTGCCTGGGTTCATAATTCAGCACCTGTGCTCATTAGCTCCGTACTTTGAGCAAGTCACTTA... | pathogenic | 57,231 |
Is chromosome 2, position 219568063, gene OBSL1 (obscurin like cytoskeletal adaptor 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['3M_syndrome_2'] | CCCCCTTTCAACAGGTGGCACAGTGTGATCAGGAGCCCGACTGCCTGGGTTCATAATTCAGCACCTGTGCTCATTAGCTCCGTACTTTGAGCAAGTCACTTAACGTATCTGCCTGTTTCCCCAGCTATAAAATGGGAATGTCAAAAGAACCTATCTTAAGTTTGAGATAAGCCTGGCCAACATGGCGAAGCCCCATCTCTACTAAAATACAAAAACAAGCCGGGCATGGTGATGCATGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCACAAGGTGGAGGTTGCAGTGAGCCGAGATCG... | CCCCCTTTCAACAGGTGGCACAGTGTGATCAGGAGCCCGACTGCCTGGGTTCATAATTCAGCACCTGTGCTCATTAGCTCCGTACTTTGAGCAAGTCACTTAACGTATCTGCCTGTTTCCCCAGCTATAAAATGGGAATGTCAAAAGAACCTATCTTAAGTTTGAGATAAGCCTGGCCAACATGGCGAAGCCCCATCTCTACTAAAATACAAAAACAAGCCGGGCATGGTGATGCATGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCACAAGGTGGAGGTTGCAGTGAGCCGAGATCG... | pathogenic | 57,233 |
Variant at chromosome 2, position 219568076, gene OBSL1 (obscurin like cytoskeletal adaptor 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['3M_syndrome_2'] | GGTGGCACAGTGTGATCAGGAGCCCGACTGCCTGGGTTCATAATTCAGCACCTGTGCTCATTAGCTCCGTACTTTGAGCAAGTCACTTAACGTATCTGCCTGTTTCCCCAGCTATAAAATGGGAATGTCAAAAGAACCTATCTTAAGTTTGAGATAAGCCTGGCCAACATGGCGAAGCCCCATCTCTACTAAAATACAAAAACAAGCCGGGCATGGTGATGCATGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCACAAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTC... | GGTGGCACAGTGTGATCAGGAGCCCGACTGCCTGGGTTCATAATTCAGCACCTGTGCTCATTAGCTCCGTACTTTGAGCAAGTCACTTAACGTATCTGCCTGTTTCCCCAGCTATAAAATGGGAATGTCAAAAGAACCTATCTTAAGTTTGAGATAAGCCTGGCCAACATGGCGAAGCCCCATCTCTACTAAAATACAAAAACAAGCCGGGCATGGTGATGCATGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCACAAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTC... | pathogenic | 57,234 |
Does the chromosome 2 mutation at position 219570774 within gene OBSL1 (obscurin like cytoskeletal adaptor 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['3M_syndrome_2', 'OBSL1-related_disorder'] | GAGTAGAATTTAAAATATTTTAACTCTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCGCGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTGGTGCCTCAGCCTCTCAAGTAGAGCTGGGATTACAGGCAGGCGCCACCACGCCTGGCTAATGATTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAAATGATCCGCCCACCTTAGTCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACTGTGCCTAG... | GAGTAGAATTTAAAATATTTTAACTCTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCGCGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTGGTGCCTCAGCCTCTCAAGTAGAGCTGGGATTACAGGCAGGCGCCACCACGCCTGGCTAATGATTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAAATGATCCGCCCACCTTAGTCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACTGTGCCTAG... | pathogenic | 57,246 |
Clinically, how would you classify the variant at chromosome 2, position 219570805, gene OBSL1 (obscurin like cytoskeletal adaptor 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['3M_syndrome_2'] | TTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCGCGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTGGTGCCTCAGCCTCTCAAGTAGAGCTGGGATTACAGGCAGGCGCCACCACGCCTGGCTAATGATTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAAATGATCCGCCCACCTTAGTCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACTGTGCCTAGCTATTTTAACCCTTTTCAAAAGTGTATTTCA... | TTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCGCGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTGGTGCCTCAGCCTCTCAAGTAGAGCTGGGATTACAGGCAGGCGCCACCACGCCTGGCTAATGATTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAAATGATCCGCCCACCTTAGTCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACTGTGCCTAGCTATTTTAACCCTTTTCAAAAGTGTATTTCA... | pathogenic | 57,247 |
Regarding the variant found on chromosome 2 at position 219571197 in gene OBSL1 (obscurin like cytoskeletal adaptor 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['3M_syndrome_2'] | AAGTTTTTGTGTGCGTGTGTGTATGCAACTCGGGGAAGCTCCTCTAGCCTTCCCTCCGGGCTTTTCTTTCCTGATGGAGGTCCAGATCAGCACCAACCTGATGAATCTGTGAGCATTGAACTGTAACAGTGAGGCCACCACCGCAGCCTGGGGGCAACATGCTTGACTGCATGCTAGGAAGGACTCAGGAGAATTTACCAACTTTTTTTCCTCTAAGAGAAAAAACTGGACAATAACTAGTGAAGGTGTACTCTTTTGCGTTGTGATGAAATCCTATTATGGGGAGCGTTACCTTCTGGTGAGTTTGGGGTGTGCTTTTT... | AAGTTTTTGTGTGCGTGTGTGTATGCAACTCGGGGAAGCTCCTCTAGCCTTCCCTCCGGGCTTTTCTTTCCTGATGGAGGTCCAGATCAGCACCAACCTGATGAATCTGTGAGCATTGAACTGTAACAGTGAGGCCACCACCGCAGCCTGGGGGCAACATGCTTGACTGCATGCTAGGAAGGACTCAGGAGAATTTACCAACTTTTTTTCCTCTAAGAGAAAAAACTGGACAATAACTAGTGAAGGTGTACTCTTTTGCGTTGTGATGAAATCCTATTATGGGGAGCGTTACCTTCTGGTGAGTTTGGGGTGTGCTTTTT... | pathogenic | 57,253 |
Is chromosome 2, position 222221300, gene PAX3 (paired box 3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Rare_genetic_deafness', 'Waardenburg_syndrome', 'Waardenburg_syndrome_type_1'] | TGAGAACAGATAAAGCTGTTCAAACTCTCTGAAGAGATTCTCGATTGCAATTATAGATTGCAACCCCTTGTGACATTTCTCCAAATTTAGTGGGCAGCTATCCTTGCCACCTGGGCCAAGCACTCTCTAATAAAATCAAGGGATCTGTATTTAAACAACTGCTAATAATGTCAACCTCAGACAGATGCCACATGTAGGAAATTTAACCAACCCTCTCACATGCAATTATCAAGGCAATTTATTAATGTGATCTCCTAAGAAAAGCTCATAGTCCAATGCAAATTAGAAAAACAATTACAACATTCAAATATTTATATAGT... | TGAGAACAGATAAAGCTGTTCAAACTCTCTGAAGAGATTCTCGATTGCAATTATAGATTGCAACCCCTTGTGACATTTCTCCAAATTTAGTGGGCAGCTATCCTTGCCACCTGGGCCAAGCACTCTCTAATAAAATCAAGGGATCTGTATTTAAACAACTGCTAATAATGTCAACCTCAGACAGATGCCACATGTAGGAAATTTAACCAACCCTCTCACATGCAATTATCAAGGCAATTTATTAATGTGATCTCCTAAGAAAAGCTCATAGTCCAATGCAAATTAGAAAAACAATTACAACATTCAAATATTTATATAGT... | pathogenic | 57,290 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 222221306, gene PAX3 (paired box 3): what disease(s) if pathogenic? | pathogenic; ['Rare_genetic_deafness', 'Waardenburg_syndrome_type_1'] | CAGATAAAGCTGTTCAAACTCTCTGAAGAGATTCTCGATTGCAATTATAGATTGCAACCCCTTGTGACATTTCTCCAAATTTAGTGGGCAGCTATCCTTGCCACCTGGGCCAAGCACTCTCTAATAAAATCAAGGGATCTGTATTTAAACAACTGCTAATAATGTCAACCTCAGACAGATGCCACATGTAGGAAATTTAACCAACCCTCTCACATGCAATTATCAAGGCAATTTATTAATGTGATCTCCTAAGAAAAGCTCATAGTCCAATGCAAATTAGAAAAACAATTACAACATTCAAATATTTATATAGTCCCAAA... | CAGATAAAGCTGTTCAAACTCTCTGAAGAGATTCTCGATTGCAATTATAGATTGCAACCCCTTGTGACATTTCTCCAAATTTAGTGGGCAGCTATCCTTGCCACCTGGGCCAAGCACTCTCTAATAAAATCAAGGGATCTGTATTTAAACAACTGCTAATAATGTCAACCTCAGACAGATGCCACATGTAGGAAATTTAACCAACCCTCTCACATGCAATTATCAAGGCAATTTATTAATGTGATCTCCTAAGAAAAGCTCATAGTCCAATGCAAATTAGAAAAACAATTACAACATTCAAATATTTATATAGTCCCAAA... | pathogenic | 57,292 |
Clinical significance of chromosome 2, position 222294193, gene PAX3 (paired box 3): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Waardenburg_syndrome_type_1'] | GCCACTTTTTCCACGCTGAAGAGTCCATAAAACTTCCCGGCGCAGCAGCTATTGGGGCTCATTGAATAATTCATCCCTCATTGCAAGCCCATAATGTCTATTCTCAGCCTTTTGTGGTGCTGTTTTCTCTTCTTTTCTCCTTGAATTATAAAAAGGTTGCCTTCCTTTGTTCACATCAAGCTGCTCCGAGCTGGAGCTTTGTCTGGGCTGAGCTAAAGTGTGAGTTTCAATGGACTCTCCAGGCTTTGTCTCCCAAGTTCATCTCCAAGTGTAGATTGTGTAGAGAAGGACTTCTTTGTAAAAGCTGGAAAAGTTGTACA... | GCCACTTTTTCCACGCTGAAGAGTCCATAAAACTTCCCGGCGCAGCAGCTATTGGGGCTCATTGAATAATTCATCCCTCATTGCAAGCCCATAATGTCTATTCTCAGCCTTTTGTGGTGCTGTTTTCTCTTCTTTTCTCCTTGAATTATAAAAAGGTTGCCTTCCTTTGTTCACATCAAGCTGCTCCGAGCTGGAGCTTTGTCTGGGCTGAGCTAAAGTGTGAGTTTCAATGGACTCTCCAGGCTTTGTCTCCCAAGTTCATCTCCAAGTGTAGATTGTGTAGAGAAGGACTTCTTTGTAAAAGCTGGAAAAGTTGTACA... | pathogenic | 57,309 |
Evaluate the clinical significance of the mutation at chromosome 2, position 222297162 in gene PAX3 (paired box 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Waardenburg_syndrome_type_1'] | GGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACCCTCCGTCCCCAGGACAAGCAGCTCACCCCTCCCTCCATAAAGTGCCAAGAACACCGGGTTGGCAAATATTGCAGGGCCTCGGGAGAGGCCACCTCCCAATAGCTG... | GGGGCCGTTGTGGAAGCCTCCACGGCTTTGCGCACACGGCAAAGTCCCTCCCGGCGCGGGCCCCATCTCCCTTCGGTTGGGGTTACCAAAACATTTGTTTCTCTTTAAAAGGGAACATCAATATTAATAAACGCTCTGCCTCCGCCTCACGTTTCCTGCCCTGCCTCCTCGACAGAAATCTTCTTTGGGGCGTCCTCAGCGGTGGTCTCGCCACCCTCCGTCCCCAGGACAAGCAGCTCACCCCTCCCTCCATAAAGTGCCAAGAACACCGGGTTGGCAAATATTGCAGGGCCTCGGGAGAGGCCACCTCCCAATAGCTG... | pathogenic | 57,331 |
Variant at chromosome 2, position 224472307, gene CUL3 (cullin 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TTGTTACTAAAAAATACACGTTTACTTTGAGCTGCTCATGTATAATTTTAAAGCTATTTTTGCATGGCTCACTCGAGGTCAACTTAGACCCTAAAACTGAGCATCAAATTACTTAAATGACACGCTTACAAATTTGCCATTTCTAAAATTAAATGCACGGGTTTCAAGACATCCTAGTTGTTTTTCTCCTGAGAGCTGGCGTAATGGCCAATCTCTGTATCATTACCTGTTAAATTTATCTGCCATTCTTAACGTCTCTTCTTCCTTCTGGCTAATTTGACATAGGAAAGGCACACAAAGGAAAACATTTTGTAAAACTG... | TTGTTACTAAAAAATACACGTTTACTTTGAGCTGCTCATGTATAATTTTAAAGCTATTTTTGCATGGCTCACTCGAGGTCAACTTAGACCCTAAAACTGAGCATCAAATTACTTAAATGACACGCTTACAAATTTGCCATTTCTAAAATTAAATGCACGGGTTTCAAGACATCCTAGTTGTTTTTCTCCTGAGAGCTGGCGTAATGGCCAATCTCTGTATCATTACCTGTTAAATTTATCTGCCATTCTTAACGTCTCTTCTTCCTTCTGGCTAATTTGACATAGGAAAGGCACACAAAGGAAAACATTTTGTAAAACTG... | benign | 57,391 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 224495979, gene CUL3 (cullin 3). What disease(s) is it linked to if pathogenic? | benign | TCATGCTTGAAAATCAAGGTAATAATAAAATAAAAATAAAAGTAAAAAAAATTCAAGGTTACTCCCTAGGTAAGACCCACATGGAAATCCATAAGAAAAACTTCTCAATTTAGCCACTGAGCTACTAAAATACCTAGATTTCAAGCATTCCCTTTAAATATATCACATAAAAATGATGGCTCTCTTAATTATACTAACTTCCATACTCCCATATAAATGGGATACATAAATGGGAGTATGGACATGAATATTAAATAGGCCTAGAACTTGCTCTTAATTTCAAACACACTATTTTTTTTCTTGTGCTCACCTGTATATGA... | TCATGCTTGAAAATCAAGGTAATAATAAAATAAAAATAAAAGTAAAAAAAATTCAAGGTTACTCCCTAGGTAAGACCCACATGGAAATCCATAAGAAAAACTTCTCAATTTAGCCACTGAGCTACTAAAATACCTAGATTTCAAGCATTCCCTTTAAATATATCACATAAAAATGATGGCTCTCTTAATTATACTAACTTCCATACTCCCATATAAATGGGATACATAAATGGGAGTATGGACATGAATATTAAATAGGCCTAGAACTTGCTCTTAATTTCAAACACACTATTTTTTTTCTTGTGCTCACCTGTATATGA... | benign | 57,401 |
Gene CUL3 (cullin 3) variant at chromosome 2, position 224500420—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Abnormal_cardiovascular_system_morphology'] | ATTTATGTTTTTTGTCACTATCCACACCATATTTTTTCCAAAGCCTGAGCCACTCTGTGGTTCTTGCCCCAATATAACAATCATCCCTTCACTCTTAGAATTCCTTTTCCCTTGTCATTTTGCCTTTCTACAGTTTATAAAAAATGAGGACTTTGGGGAGGGAAAAAACCCAACATTTCTGTGAACTCGAGACTATAGGCAGTGCCTAAACCAGTAGGATCAGGCAAATAAAACTAGTTGGACAGCAGACATATCATGAACTCTTGCAACAGCGTGTTATCTGTGTGCATGTCTAAAGTGTTATACTGATTCACTATTAC... | ATTTATGTTTTTTGTCACTATCCACACCATATTTTTTCCAAAGCCTGAGCCACTCTGTGGTTCTTGCCCCAATATAACAATCATCCCTTCACTCTTAGAATTCCTTTTCCCTTGTCATTTTGCCTTTCTACAGTTTATAAAAAATGAGGACTTTGGGGAGGGAAAAAACCCAACATTTCTGTGAACTCGAGACTATAGGCAGTGCCTAAACCAGTAGGATCAGGCAAATAAAACTAGTTGGACAGCAGACATATCATGAACTCTTGCAACAGCGTGTTATCTGTGTGCATGTCTAAAGTGTTATACTGATTCACTATTAC... | pathogenic | 57,407 |
Chromosome 2, position 224503670, gene CUL3 (cullin 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Inborn_genetic_diseases'] | ATCCACTAAATGATTACTTAACTTTAAGGAAACTGAAAATAAACTTGGATGATGCACAGAAGAGAGGATCATAGAGGAGACTCTTAGATGGTGTACTGGGGGAGGTGGAGAACTGTTTATACATTCGCAAGTTGGTTAGGGGAAGGGAGGGTCACAAAGTGGACAGTCCATCCATCCCATATCAATATGCATGGGATCTAGCCCAATCTTCCCTATAGCTTTCAATGTGTAAGATTAGTGGAAGAAAAAAATTTAAAAACTTACTAGAGCAAACAAAAAAATACAAGAAAATATATCAATATATTAGATTTAACTATAAA... | ATCCACTAAATGATTACTTAACTTTAAGGAAACTGAAAATAAACTTGGATGATGCACAGAAGAGAGGATCATAGAGGAGACTCTTAGATGGTGTACTGGGGGAGGTGGAGAACTGTTTATACATTCGCAAGTTGGTTAGGGGAAGGGAGGGTCACAAAGTGGACAGTCCATCCATCCCATATCAATATGCATGGGATCTAGCCCAATCTTCCCTATAGCTTTCAATGTGTAAGATTAGTGGAAGAAAAAAATTTAAAAACTTACTAGAGCAAACAAAAAAATACAAGAAAATATATCAATATATTAGATTTAACTATAAA... | pathogenic | 57,412 |
A genetic alteration at chromosome 2, position 224503678, in gene CUL3 (cullin 3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Inborn_genetic_diseases'] | AATGATTACTTAACTTTAAGGAAACTGAAAATAAACTTGGATGATGCACAGAAGAGAGGATCATAGAGGAGACTCTTAGATGGTGTACTGGGGGAGGTGGAGAACTGTTTATACATTCGCAAGTTGGTTAGGGGAAGGGAGGGTCACAAAGTGGACAGTCCATCCATCCCATATCAATATGCATGGGATCTAGCCCAATCTTCCCTATAGCTTTCAATGTGTAAGATTAGTGGAAGAAAAAAATTTAAAAACTTACTAGAGCAAACAAAAAAATACAAGAAAATATATCAATATATTAGATTTAACTATAAATTCCTAAA... | AATGATTACTTAACTTTAAGGAAACTGAAAATAAACTTGGATGATGCACAGAAGAGAGGATCATAGAGGAGACTCTTAGATGGTGTACTGGGGGAGGTGGAGAACTGTTTATACATTCGCAAGTTGGTTAGGGGAAGGGAGGGTCACAAAGTGGACAGTCCATCCATCCCATATCAATATGCATGGGATCTAGCCCAATCTTCCCTATAGCTTTCAATGTGTAAGATTAGTGGAAGAAAAAAATTTAAAAACTTACTAGAGCAAACAAAAAAATACAAGAAAATATATCAATATATTAGATTTAACTATAAATTCCTAAA... | pathogenic | 57,413 |
Considering the genetic mutation at chromosome 2, position 224506055, impacting CUL3 (cullin 3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['CUL3-related_disorder'] | CTCATTTAGTGCATCATGAATGAGGGGTTGGAGTGGAATTCTATTCCGTAGAGGGCTACCACTGAATTGGAGGCATAAGGTAATATAGCGCTGGGTTAAGGGATGATTGAGAACAGATGAAATGAAATTTTAGTCACAGAGATTATTTTATGAAGCCTTTGCATATGCAGGCAAAAACTTACACAGCCAAAAGACGGAATTTTTCATTTAAGCTCACTGAAAGCCTCAACTGTGCAAACAAAAGGCAATAATTTGTTATAATCCAAACAGTAAAAAGGCCATTGCCCTTACTTTATTTTTTTATTTCTATTTTTTTTTTC... | CTCATTTAGTGCATCATGAATGAGGGGTTGGAGTGGAATTCTATTCCGTAGAGGGCTACCACTGAATTGGAGGCATAAGGTAATATAGCGCTGGGTTAAGGGATGATTGAGAACAGATGAAATGAAATTTTAGTCACAGAGATTATTTTATGAAGCCTTTGCATATGCAGGCAAAAACTTACACAGCCAAAAGACGGAATTTTTCATTTAAGCTCACTGAAAGCCTCAACTGTGCAAACAAAAGGCAATAATTTGTTATAATCCAAACAGTAAAAAGGCCATTGCCCTTACTTTATTTTTTTATTTCTATTTTTTTTTTC... | pathogenic | 57,416 |
Regarding the variant found on chromosome 2 at position 224514596 in gene CUL3 (cullin 3): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GTTATCATCATTTCATTACAGATTAGTACCAGTTTAGCTTTACTTTTAGCAATTTAGTTGGTTTGGACCACTGTTGCCAATTTCTATCAATAGTACCATTGGCCTGTAATATTTTAATCAACAACCTTTAGGCAAATATGCACTACAGAATCATCCATATCCTTATGTGTGTTTTACTAGTAATTTAAGTGACTAAAAGCCTGCAGATGAGACTTCGTTGGTGATGTACTGCTGTGAATTTATAGTACTTAAATAATTTATAATATTAGATATAGTAAAAAGTTAAGGATATTTCTAAGTTTACAGTTTCATAACATACA... | GTTATCATCATTTCATTACAGATTAGTACCAGTTTAGCTTTACTTTTAGCAATTTAGTTGGTTTGGACCACTGTTGCCAATTTCTATCAATAGTACCATTGGCCTGTAATATTTTAATCAACAACCTTTAGGCAAATATGCACTACAGAATCATCCATATCCTTATGTGTGTTTTACTAGTAATTTAAGTGACTAAAAGCCTGCAGATGAGACTTCGTTGGTGATGTACTGCTGTGAATTTATAGTACTTAAATAATTTATAATATTAGATATAGTAAAAAGTTAAGGATATTTCTAAGTTTACAGTTTCATAACATACA... | benign | 57,426 |
Variant at chromosome 2, position 224514656, gene CUL3 (cullin 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Inborn_genetic_diseases', 'Neurodevelopmental_disorder_with_or_without_autism_or_seizures', 'Pseudohypoaldosteronism_type_2E'] | GTTTGGACCACTGTTGCCAATTTCTATCAATAGTACCATTGGCCTGTAATATTTTAATCAACAACCTTTAGGCAAATATGCACTACAGAATCATCCATATCCTTATGTGTGTTTTACTAGTAATTTAAGTGACTAAAAGCCTGCAGATGAGACTTCGTTGGTGATGTACTGCTGTGAATTTATAGTACTTAAATAATTTATAATATTAGATATAGTAAAAAGTTAAGGATATTTCTAAGTTTACAGTTTCATAACATACAGTTGACCCTTGAACAACACAAGTTTGAACTGCACAGGTCCATGAAGTGGATTTTCTTCCT... | GTTTGGACCACTGTTGCCAATTTCTATCAATAGTACCATTGGCCTGTAATATTTTAATCAACAACCTTTAGGCAAATATGCACTACAGAATCATCCATATCCTTATGTGTGTTTTACTAGTAATTTAAGTGACTAAAAGCCTGCAGATGAGACTTCGTTGGTGATGTACTGCTGTGAATTTATAGTACTTAAATAATTTATAATATTAGATATAGTAAAAAGTTAAGGATATTTCTAAGTTTACAGTTTCATAACATACAGTTGACCCTTGAACAACACAAGTTTGAACTGCACAGGTCCATGAAGTGGATTTTCTTCCT... | pathogenic | 57,428 |
Regarding the variant found on chromosome 2 at position 224514714 in gene CUL3 (cullin 3): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['CUL3-related_disorder'] | CAACAACCTTTAGGCAAATATGCACTACAGAATCATCCATATCCTTATGTGTGTTTTACTAGTAATTTAAGTGACTAAAAGCCTGCAGATGAGACTTCGTTGGTGATGTACTGCTGTGAATTTATAGTACTTAAATAATTTATAATATTAGATATAGTAAAAAGTTAAGGATATTTCTAAGTTTACAGTTTCATAACATACAGTTGACCCTTGAACAACACAAGTTTGAACTGCACAGGTCCATGAAGTGGATTTTCTTCCTCCCCTACCACCTTAGACAGCAAGATCAAGCCCTCCTTCTTCTTACTCCTCCTCAGCCT... | CAACAACCTTTAGGCAAATATGCACTACAGAATCATCCATATCCTTATGTGTGTTTTACTAGTAATTTAAGTGACTAAAAGCCTGCAGATGAGACTTCGTTGGTGATGTACTGCTGTGAATTTATAGTACTTAAATAATTTATAATATTAGATATAGTAAAAAGTTAAGGATATTTCTAAGTTTACAGTTTCATAACATACAGTTGACCCTTGAACAACACAAGTTTGAACTGCACAGGTCCATGAAGTGGATTTTCTTCCTCCCCTACCACCTTAGACAGCAAGATCAAGCCCTCCTTCTTCTTACTCCTCCTCAGCCT... | pathogenic | 57,431 |
Determine if the mutation at chromosome 2, position 227008019 in gene COL4A4 (collagen type IV alpha 4 chain) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | CATTCTAAACTTTTTTAGAAAATACTAATGCCAAATGTCAAACTGTTGCCTTGGTACAAGACTGATATGAAATATAAGAATGTCTTTAAAATTGGCAAAATGGGATGCTCCTGTAACAGCCAACCACGGGAGCATAAAATTCAAATTATAAATTGTCTTTGTTTCGTTTAAAGATAGTGCCATGTCCTCCTGATGGGGTAACCCTGACTTAAATGAATCTTCTTACCTAAGTTTAATTAAATCGGCCCTTAATTTTCTCCCAAGTGCATAATGATAGCTCTGTCACGTCCCTGTGTGAGCTGCCATTATGTGTGTGGAGC... | CATTCTAAACTTTTTTAGAAAATACTAATGCCAAATGTCAAACTGTTGCCTTGGTACAAGACTGATATGAAATATAAGAATGTCTTTAAAATTGGCAAAATGGGATGCTCCTGTAACAGCCAACCACGGGAGCATAAAATTCAAATTATAAATTGTCTTTGTTTCGTTTAAAGATAGTGCCATGTCCTCCTGATGGGGTAACCCTGACTTAAATGAATCTTCTTACCTAAGTTTAATTAAATCGGCCCTTAATTTTCTCCCAAGTGCATAATGATAGCTCTGTCACGTCCCTGTGTGAGCTGCCATTATGTGTGTGGAGC... | pathogenic | 57,473 |
Does the genetic variant at chromosome 2, position 227008066, impacting gene COL4A4 (collagen type IV alpha 4 chain), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_dominant_Alport_syndrome'] | GCCTTGGTACAAGACTGATATGAAATATAAGAATGTCTTTAAAATTGGCAAAATGGGATGCTCCTGTAACAGCCAACCACGGGAGCATAAAATTCAAATTATAAATTGTCTTTGTTTCGTTTAAAGATAGTGCCATGTCCTCCTGATGGGGTAACCCTGACTTAAATGAATCTTCTTACCTAAGTTTAATTAAATCGGCCCTTAATTTTCTCCCAAGTGCATAATGATAGCTCTGTCACGTCCCTGTGTGAGCTGCCATTATGTGTGTGGAGCAAAGTGTCCGTTGTGAGTGCAAGAAGCTGTGCAGGCTCTCCTGGGGA... | GCCTTGGTACAAGACTGATATGAAATATAAGAATGTCTTTAAAATTGGCAAAATGGGATGCTCCTGTAACAGCCAACCACGGGAGCATAAAATTCAAATTATAAATTGTCTTTGTTTCGTTTAAAGATAGTGCCATGTCCTCCTGATGGGGTAACCCTGACTTAAATGAATCTTCTTACCTAAGTTTAATTAAATCGGCCCTTAATTTTCTCCCAAGTGCATAATGATAGCTCTGTCACGTCCCTGTGTGAGCTGCCATTATGTGTGTGGAGCAAAGTGTCCGTTGTGAGTGCAAGAAGCTGTGCAGGCTCTCCTGGGGA... | pathogenic | 57,477 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 227008066, gene COL4A4 (collagen type IV alpha 4 chain): what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | GCCTTGGTACAAGACTGATATGAAATATAAGAATGTCTTTAAAATTGGCAAAATGGGATGCTCCTGTAACAGCCAACCACGGGAGCATAAAATTCAAATTATAAATTGTCTTTGTTTCGTTTAAAGATAGTGCCATGTCCTCCTGATGGGGTAACCCTGACTTAAATGAATCTTCTTACCTAAGTTTAATTAAATCGGCCCTTAATTTTCTCCCAAGTGCATAATGATAGCTCTGTCACGTCCCTGTGTGAGCTGCCATTATGTGTGTGGAGCAAAGTGTCCGTTGTGAGTGCAAGAAGCTGTGCAGGCTCTCCTGGGGA... | GCCTTGGTACAAGACTGATATGAAATATAAGAATGTCTTTAAAATTGGCAAAATGGGATGCTCCTGTAACAGCCAACCACGGGAGCATAAAATTCAAATTATAAATTGTCTTTGTTTCGTTTAAAGATAGTGCCATGTCCTCCTGATGGGGTAACCCTGACTTAAATGAATCTTCTTACCTAAGTTTAATTAAATCGGCCCTTAATTTTCTCCCAAGTGCATAATGATAGCTCTGTCACGTCCCTGTGTGAGCTGCCATTATGTGTGTGGAGCAAAGTGTCCGTTGTGAGTGCAAGAAGCTGTGCAGGCTCTCCTGGGGA... | pathogenic | 57,478 |
A genetic alteration at chromosome 2, position 227008109, in gene COL4A4 (collagen type IV alpha 4 chain)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | ATTGGCAAAATGGGATGCTCCTGTAACAGCCAACCACGGGAGCATAAAATTCAAATTATAAATTGTCTTTGTTTCGTTTAAAGATAGTGCCATGTCCTCCTGATGGGGTAACCCTGACTTAAATGAATCTTCTTACCTAAGTTTAATTAAATCGGCCCTTAATTTTCTCCCAAGTGCATAATGATAGCTCTGTCACGTCCCTGTGTGAGCTGCCATTATGTGTGTGGAGCAAAGTGTCCGTTGTGAGTGCAAGAAGCTGTGCAGGCTCTCCTGGGGAGGGGAGTGAGATGCTTTGTATGAAGCGCGTGCCTGCCTGAGTG... | ATTGGCAAAATGGGATGCTCCTGTAACAGCCAACCACGGGAGCATAAAATTCAAATTATAAATTGTCTTTGTTTCGTTTAAAGATAGTGCCATGTCCTCCTGATGGGGTAACCCTGACTTAAATGAATCTTCTTACCTAAGTTTAATTAAATCGGCCCTTAATTTTCTCCCAAGTGCATAATGATAGCTCTGTCACGTCCCTGTGTGAGCTGCCATTATGTGTGTGGAGCAAAGTGTCCGTTGTGAGTGCAAGAAGCTGTGCAGGCTCTCCTGGGGAGGGGAGTGAGATGCTTTGTATGAAGCGCGTGCCTGCCTGAGTG... | pathogenic | 57,482 |
Chromosome 2, position 227008142, gene COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | CCACGGGAGCATAAAATTCAAATTATAAATTGTCTTTGTTTCGTTTAAAGATAGTGCCATGTCCTCCTGATGGGGTAACCCTGACTTAAATGAATCTTCTTACCTAAGTTTAATTAAATCGGCCCTTAATTTTCTCCCAAGTGCATAATGATAGCTCTGTCACGTCCCTGTGTGAGCTGCCATTATGTGTGTGGAGCAAAGTGTCCGTTGTGAGTGCAAGAAGCTGTGCAGGCTCTCCTGGGGAGGGGAGTGAGATGCTTTGTATGAAGCGCGTGCCTGCCTGAGTGAGCCCCATGTAGCGTCAGTCCCATTAGCACGCA... | CCACGGGAGCATAAAATTCAAATTATAAATTGTCTTTGTTTCGTTTAAAGATAGTGCCATGTCCTCCTGATGGGGTAACCCTGACTTAAATGAATCTTCTTACCTAAGTTTAATTAAATCGGCCCTTAATTTTCTCCCAAGTGCATAATGATAGCTCTGTCACGTCCCTGTGTGAGCTGCCATTATGTGTGTGGAGCAAAGTGTCCGTTGTGAGTGCAAGAAGCTGTGCAGGCTCTCCTGGGGAGGGGAGTGAGATGCTTTGTATGAAGCGCGTGCCTGCCTGAGTGAGCCCCATGTAGCGTCAGTCCCATTAGCACGCA... | pathogenic | 57,484 |
The mutation in gene COL4A4 (collagen type IV alpha 4 chain) at chromosome 2, position 227008180—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | TTTCGTTTAAAGATAGTGCCATGTCCTCCTGATGGGGTAACCCTGACTTAAATGAATCTTCTTACCTAAGTTTAATTAAATCGGCCCTTAATTTTCTCCCAAGTGCATAATGATAGCTCTGTCACGTCCCTGTGTGAGCTGCCATTATGTGTGTGGAGCAAAGTGTCCGTTGTGAGTGCAAGAAGCTGTGCAGGCTCTCCTGGGGAGGGGAGTGAGATGCTTTGTATGAAGCGCGTGCCTGCCTGAGTGAGCCCCATGTAGCGTCAGTCCCATTAGCACGCACGCACCTGTGACACGCCGGACCCCGACTGGGGAAAAGC... | TTTCGTTTAAAGATAGTGCCATGTCCTCCTGATGGGGTAACCCTGACTTAAATGAATCTTCTTACCTAAGTTTAATTAAATCGGCCCTTAATTTTCTCCCAAGTGCATAATGATAGCTCTGTCACGTCCCTGTGTGAGCTGCCATTATGTGTGTGGAGCAAAGTGTCCGTTGTGAGTGCAAGAAGCTGTGCAGGCTCTCCTGGGGAGGGGAGTGAGATGCTTTGTATGAAGCGCGTGCCTGCCTGAGTGAGCCCCATGTAGCGTCAGTCCCATTAGCACGCACGCACCTGTGACACGCCGGACCCCGACTGGGGAAAAGC... | pathogenic | 57,487 |
Evaluate if the mutation on chromosome 2 at position 227008222 in COL4A4 (collagen type IV alpha 4 chain) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Chronic_kidney_disease'] | CTGACTTAAATGAATCTTCTTACCTAAGTTTAATTAAATCGGCCCTTAATTTTCTCCCAAGTGCATAATGATAGCTCTGTCACGTCCCTGTGTGAGCTGCCATTATGTGTGTGGAGCAAAGTGTCCGTTGTGAGTGCAAGAAGCTGTGCAGGCTCTCCTGGGGAGGGGAGTGAGATGCTTTGTATGAAGCGCGTGCCTGCCTGAGTGAGCCCCATGTAGCGTCAGTCCCATTAGCACGCACGCACCTGTGACACGCCGGACCCCGACTGGGGAAAAGCAGTCTGTCTGGAAGTTCACTGCAATGGGGAGTCAATTTTTGT... | CTGACTTAAATGAATCTTCTTACCTAAGTTTAATTAAATCGGCCCTTAATTTTCTCCCAAGTGCATAATGATAGCTCTGTCACGTCCCTGTGTGAGCTGCCATTATGTGTGTGGAGCAAAGTGTCCGTTGTGAGTGCAAGAAGCTGTGCAGGCTCTCCTGGGGAGGGGAGTGAGATGCTTTGTATGAAGCGCGTGCCTGCCTGAGTGAGCCCCATGTAGCGTCAGTCCCATTAGCACGCACGCACCTGTGACACGCCGGACCCCGACTGGGGAAAAGCAGTCTGTCTGGAAGTTCACTGCAATGGGGAGTCAATTTTTGT... | pathogenic | 57,489 |
Is the chromosome 2, position 227008270 variant in COL4A4 (collagen type IV alpha 4 chain) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | ATTTTCTCCCAAGTGCATAATGATAGCTCTGTCACGTCCCTGTGTGAGCTGCCATTATGTGTGTGGAGCAAAGTGTCCGTTGTGAGTGCAAGAAGCTGTGCAGGCTCTCCTGGGGAGGGGAGTGAGATGCTTTGTATGAAGCGCGTGCCTGCCTGAGTGAGCCCCATGTAGCGTCAGTCCCATTAGCACGCACGCACCTGTGACACGCCGGACCCCGACTGGGGAAAAGCAGTCTGTCTGGAAGTTCACTGCAATGGGGAGTCAATTTTTGTGAATAACTACCTTAATATTCACTAATAGCTTTTAGGCTCCTAATCTCT... | ATTTTCTCCCAAGTGCATAATGATAGCTCTGTCACGTCCCTGTGTGAGCTGCCATTATGTGTGTGGAGCAAAGTGTCCGTTGTGAGTGCAAGAAGCTGTGCAGGCTCTCCTGGGGAGGGGAGTGAGATGCTTTGTATGAAGCGCGTGCCTGCCTGAGTGAGCCCCATGTAGCGTCAGTCCCATTAGCACGCACGCACCTGTGACACGCCGGACCCCGACTGGGGAAAAGCAGTCTGTCTGGAAGTTCACTGCAATGGGGAGTCAATTTTTGTGAATAACTACCTTAATATTCACTAATAGCTTTTAGGCTCCTAATCTCT... | pathogenic | 57,492 |
Evaluate the clinical significance of the mutation at chromosome 2, position 227010364 in gene COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | AAGAAGAGACAGCTGGTGTCCAAGCACCCCATGTAGGTGTTCCCAGACCCTTCCTTCCTCCATCTGGCCTTTGCAGATACGTGTTCTGAAATCTGGAGGCCCTCGCCAAAGCCTGCTTCTGTGGTGAGGAAGCCATTTCTGACACCTCCCTGGTCCTGTGGGCCAGCCCTCATCCCCTCATCCCTCACTCGAGCCAAGCAGGGGGCCAGGTGCTGGAGGTGGGCACCAAGCACATCTCTGTGTTCAGGAAGCTCATGGCCTAGCAGGGAACTGGATGAGCAAACAAGCAATGAAAATACAGCACAACAAGCCCTAAGAAT... | AAGAAGAGACAGCTGGTGTCCAAGCACCCCATGTAGGTGTTCCCAGACCCTTCCTTCCTCCATCTGGCCTTTGCAGATACGTGTTCTGAAATCTGGAGGCCCTCGCCAAAGCCTGCTTCTGTGGTGAGGAAGCCATTTCTGACACCTCCCTGGTCCTGTGGGCCAGCCCTCATCCCCTCATCCCTCACTCGAGCCAAGCAGGGGGCCAGGTGCTGGAGGTGGGCACCAAGCACATCTCTGTGTTCAGGAAGCTCATGGCCTAGCAGGGAACTGGATGAGCAAACAAGCAATGAAAATACAGCACAACAAGCCCTAAGAAT... | pathogenic | 57,499 |
Regarding the variant found on chromosome 2 at position 227010384 in gene COL4A4 (collagen type IV alpha 4 chain): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | CAAGCACCCCATGTAGGTGTTCCCAGACCCTTCCTTCCTCCATCTGGCCTTTGCAGATACGTGTTCTGAAATCTGGAGGCCCTCGCCAAAGCCTGCTTCTGTGGTGAGGAAGCCATTTCTGACACCTCCCTGGTCCTGTGGGCCAGCCCTCATCCCCTCATCCCTCACTCGAGCCAAGCAGGGGGCCAGGTGCTGGAGGTGGGCACCAAGCACATCTCTGTGTTCAGGAAGCTCATGGCCTAGCAGGGAACTGGATGAGCAAACAAGCAATGAAAATACAGCACAACAAGCCCTAAGAATGAGAAGTGTGGGGATCCGGG... | CAAGCACCCCATGTAGGTGTTCCCAGACCCTTCCTTCCTCCATCTGGCCTTTGCAGATACGTGTTCTGAAATCTGGAGGCCCTCGCCAAAGCCTGCTTCTGTGGTGAGGAAGCCATTTCTGACACCTCCCTGGTCCTGTGGGCCAGCCCTCATCCCCTCATCCCTCACTCGAGCCAAGCAGGGGGCCAGGTGCTGGAGGTGGGCACCAAGCACATCTCTGTGTTCAGGAAGCTCATGGCCTAGCAGGGAACTGGATGAGCAAACAAGCAATGAAAATACAGCACAACAAGCCCTAAGAATGAGAAGTGTGGGGATCCGGG... | pathogenic | 57,500 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 227010435, gene COL4A4 (collagen type IV alpha 4 chain): what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | TGCAGATACGTGTTCTGAAATCTGGAGGCCCTCGCCAAAGCCTGCTTCTGTGGTGAGGAAGCCATTTCTGACACCTCCCTGGTCCTGTGGGCCAGCCCTCATCCCCTCATCCCTCACTCGAGCCAAGCAGGGGGCCAGGTGCTGGAGGTGGGCACCAAGCACATCTCTGTGTTCAGGAAGCTCATGGCCTAGCAGGGAACTGGATGAGCAAACAAGCAATGAAAATACAGCACAACAAGCCCTAAGAATGAGAAGTGTGGGGATCCGGGACCTCAAGGAAGGATAACTGGAATATGTGATTTTAAGTTAGGACTTGAAAT... | TGCAGATACGTGTTCTGAAATCTGGAGGCCCTCGCCAAAGCCTGCTTCTGTGGTGAGGAAGCCATTTCTGACACCTCCCTGGTCCTGTGGGCCAGCCCTCATCCCCTCATCCCTCACTCGAGCCAAGCAGGGGGCCAGGTGCTGGAGGTGGGCACCAAGCACATCTCTGTGTTCAGGAAGCTCATGGCCTAGCAGGGAACTGGATGAGCAAACAAGCAATGAAAATACAGCACAACAAGCCCTAAGAATGAGAAGTGTGGGGATCCGGGACCTCAAGGAAGGATAACTGGAATATGTGATTTTAAGTTAGGACTTGAAAT... | pathogenic | 57,502 |
The mutation in gene COL4A4 (collagen type IV alpha 4 chain) at chromosome 2, position 227022046—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | AATCTACCATTACTTTAAGTTATTTATATTCTGCTGGCTATTTCTTTCATGGGATTATGAGACCCTGGAGGGGGAAAACACATCTTACTCATCTTACTCACCCATACCACCTAGTAGCATACTTTACAAAGAGTAGAGGGAGTCTGGAAGTACTTACTGAATTGAATTTGCAGAACCCAGTTATAGGTCACGTCTTCAAGTTGGAAGTTATTTTTTTAAGTTGGAGGGACCCAGCTCTGGATATTGCAAATATATACACAAGGCAGCTTGGTTTTAAAATGAGGTTGATGACTAGTAATACCGACTGACAGAACTTTATG... | AATCTACCATTACTTTAAGTTATTTATATTCTGCTGGCTATTTCTTTCATGGGATTATGAGACCCTGGAGGGGGAAAACACATCTTACTCATCTTACTCACCCATACCACCTAGTAGCATACTTTACAAAGAGTAGAGGGAGTCTGGAAGTACTTACTGAATTGAATTTGCAGAACCCAGTTATAGGTCACGTCTTCAAGTTGGAAGTTATTTTTTTAAGTTGGAGGGACCCAGCTCTGGATATTGCAAATATATACACAAGGCAGCTTGGTTTTAAAATGAGGTTGATGACTAGTAATACCGACTGACAGAACTTTATG... | pathogenic | 57,508 |
Gene COL4A4 (collagen type IV alpha 4 chain) variant at chromosome 2, position 227022112—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | GGAGGGGGAAAACACATCTTACTCATCTTACTCACCCATACCACCTAGTAGCATACTTTACAAAGAGTAGAGGGAGTCTGGAAGTACTTACTGAATTGAATTTGCAGAACCCAGTTATAGGTCACGTCTTCAAGTTGGAAGTTATTTTTTTAAGTTGGAGGGACCCAGCTCTGGATATTGCAAATATATACACAAGGCAGCTTGGTTTTAAAATGAGGTTGATGACTAGTAATACCGACTGACAGAACTTTATGCATGCAAGGAGTATCAAGAAAGATGAGTTAAATAAAGACTGGCCCAATTCCCAGTTCTCACGGGCC... | GGAGGGGGAAAACACATCTTACTCATCTTACTCACCCATACCACCTAGTAGCATACTTTACAAAGAGTAGAGGGAGTCTGGAAGTACTTACTGAATTGAATTTGCAGAACCCAGTTATAGGTCACGTCTTCAAGTTGGAAGTTATTTTTTTAAGTTGGAGGGACCCAGCTCTGGATATTGCAAATATATACACAAGGCAGCTTGGTTTTAAAATGAGGTTGATGACTAGTAATACCGACTGACAGAACTTTATGCATGCAAGGAGTATCAAGAAAGATGAGTTAAATAAAGACTGGCCCAATTCCCAGTTCTCACGGGCC... | pathogenic | 57,512 |
Does the variant impacting COL4A4 (collagen type IV alpha 4 chain) on chromosome 2, position 227022141, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | ACTCACCCATACCACCTAGTAGCATACTTTACAAAGAGTAGAGGGAGTCTGGAAGTACTTACTGAATTGAATTTGCAGAACCCAGTTATAGGTCACGTCTTCAAGTTGGAAGTTATTTTTTTAAGTTGGAGGGACCCAGCTCTGGATATTGCAAATATATACACAAGGCAGCTTGGTTTTAAAATGAGGTTGATGACTAGTAATACCGACTGACAGAACTTTATGCATGCAAGGAGTATCAAGAAAGATGAGTTAAATAAAGACTGGCCCAATTCCCAGTTCTCACGGGCCGTTAAAAAAAGTTGCTACAACCAACACCC... | ACTCACCCATACCACCTAGTAGCATACTTTACAAAGAGTAGAGGGAGTCTGGAAGTACTTACTGAATTGAATTTGCAGAACCCAGTTATAGGTCACGTCTTCAAGTTGGAAGTTATTTTTTTAAGTTGGAGGGACCCAGCTCTGGATATTGCAAATATATACACAAGGCAGCTTGGTTTTAAAATGAGGTTGATGACTAGTAATACCGACTGACAGAACTTTATGCATGCAAGGAGTATCAAGAAAGATGAGTTAAATAAAGACTGGCCCAATTCCCAGTTCTCACGGGCCGTTAAAAAAAGTTGCTACAACCAACACCC... | pathogenic | 57,514 |
A genetic variant on chromosome 2, position 227022171, affects the gene COL4A4 (collagen type IV alpha 4 chain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | ACAAAGAGTAGAGGGAGTCTGGAAGTACTTACTGAATTGAATTTGCAGAACCCAGTTATAGGTCACGTCTTCAAGTTGGAAGTTATTTTTTTAAGTTGGAGGGACCCAGCTCTGGATATTGCAAATATATACACAAGGCAGCTTGGTTTTAAAATGAGGTTGATGACTAGTAATACCGACTGACAGAACTTTATGCATGCAAGGAGTATCAAGAAAGATGAGTTAAATAAAGACTGGCCCAATTCCCAGTTCTCACGGGCCGTTAAAAAAAGTTGCTACAACCAACACCCAATTAACCTGGTGCACAAACACAGATGCAA... | ACAAAGAGTAGAGGGAGTCTGGAAGTACTTACTGAATTGAATTTGCAGAACCCAGTTATAGGTCACGTCTTCAAGTTGGAAGTTATTTTTTTAAGTTGGAGGGACCCAGCTCTGGATATTGCAAATATATACACAAGGCAGCTTGGTTTTAAAATGAGGTTGATGACTAGTAATACCGACTGACAGAACTTTATGCATGCAAGGAGTATCAAGAAAGATGAGTTAAATAAAGACTGGCCCAATTCCCAGTTCTCACGGGCCGTTAAAAAAAGTTGCTACAACCAACACCCAATTAACCTGGTGCACAAACACAGATGCAA... | pathogenic | 57,517 |
Clinically, how would you classify the variant at chromosome 2, position 227027903, gene COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | CACAGGGTGGAAAGAGATTTTAAATTTGTGGATTAGGACAAAAATGAAATAGATTAAGAACATACATAATAATTTGAGGCAGCATCAATGACAAGCAGAATGGCAGCACCTTATTTACATAAAATGTCCACATCAATGTGACTGACAGGAGCAGCTATGATTTAGTAACGGAGTTTTCATCTCTAGAATGACTTGAAACTCTCTTGAGCAATATAAAATTCTAGTTGATTTCTTCTGGCAAATATCCTCTAATTTAATGCATGTAGGAATTCTATCCATTTAAAAGCTTCTGAAAATTTCATATTAATTTGCCAAGTATA... | CACAGGGTGGAAAGAGATTTTAAATTTGTGGATTAGGACAAAAATGAAATAGATTAAGAACATACATAATAATTTGAGGCAGCATCAATGACAAGCAGAATGGCAGCACCTTATTTACATAAAATGTCCACATCAATGTGACTGACAGGAGCAGCTATGATTTAGTAACGGAGTTTTCATCTCTAGAATGACTTGAAACTCTCTTGAGCAATATAAAATTCTAGTTGATTTCTTCTGGCAAATATCCTCTAATTTAATGCATGTAGGAATTCTATCCATTTAAAAGCTTCTGAAAATTTCATATTAATTTGCCAAGTATA... | pathogenic | 57,529 |
A genetic variant at chromosome 2, position 227028012, affecting gene COL4A4 (collagen type IV alpha 4 chain)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CTTATTTACATAAAATGTCCACATCAATGTGACTGACAGGAGCAGCTATGATTTAGTAACGGAGTTTTCATCTCTAGAATGACTTGAAACTCTCTTGAGCAATATAAAATTCTAGTTGATTTCTTCTGGCAAATATCCTCTAATTTAATGCATGTAGGAATTCTATCCATTTAAAAGCTTCTGAAAATTTCATATTAATTTGCCAAGTATAGGGTATGCATAGAAAGGAAATATGAAAAGAAACAACATATAGGCCAGGCTCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGG... | CTTATTTACATAAAATGTCCACATCAATGTGACTGACAGGAGCAGCTATGATTTAGTAACGGAGTTTTCATCTCTAGAATGACTTGAAACTCTCTTGAGCAATATAAAATTCTAGTTGATTTCTTCTGGCAAATATCCTCTAATTTAATGCATGTAGGAATTCTATCCATTTAAAAGCTTCTGAAAATTTCATATTAATTTGCCAAGTATAGGGTATGCATAGAAAGGAAATATGAAAAGAAACAACATATAGGCCAGGCTCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGG... | benign | 57,537 |
Clinical classification of chromosome 2, position 227030532, gene COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria', 'Hematuria,_benign_familial,_1'] | CCAGTTTCATTTTCTCAGGGAAGCCTTCCCTGGAATCCCAACTGAAGTTTAGTTGCTTTTTGATAAGCTCTTCATTCAGGACACTTAACTGGATTTAAACTGACATATCCTTTCATGTGCATGTCTGTCTTCCATGAAACTATGCTCTTTATAAAAGAAATTTATTATTATTATTATTATTATTATTATTATTATTATTATTTGCTCCATTACCCAGGCTGGAGTGTAGTGGCACAATCATTGCTCACTGCAGCCTCCAACTCTTGGGTTCCAGCGATCCTCTCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACA... | CCAGTTTCATTTTCTCAGGGAAGCCTTCCCTGGAATCCCAACTGAAGTTTAGTTGCTTTTTGATAAGCTCTTCATTCAGGACACTTAACTGGATTTAAACTGACATATCCTTTCATGTGCATGTCTGTCTTCCATGAAACTATGCTCTTTATAAAAGAAATTTATTATTATTATTATTATTATTATTATTATTATTATTATTTGCTCCATTACCCAGGCTGGAGTGTAGTGGCACAATCATTGCTCACTGCAGCCTCCAACTCTTGGGTTCCAGCGATCCTCTCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACA... | pathogenic | 57,545 |
Is the chromosome 2, position 227030555 variant in COL4A4 (collagen type IV alpha 4 chain) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | CCTTCCCTGGAATCCCAACTGAAGTTTAGTTGCTTTTTGATAAGCTCTTCATTCAGGACACTTAACTGGATTTAAACTGACATATCCTTTCATGTGCATGTCTGTCTTCCATGAAACTATGCTCTTTATAAAAGAAATTTATTATTATTATTATTATTATTATTATTATTATTATTATTTGCTCCATTACCCAGGCTGGAGTGTAGTGGCACAATCATTGCTCACTGCAGCCTCCAACTCTTGGGTTCCAGCGATCCTCTCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCACCATGCCCAGATAATTTT... | CCTTCCCTGGAATCCCAACTGAAGTTTAGTTGCTTTTTGATAAGCTCTTCATTCAGGACACTTAACTGGATTTAAACTGACATATCCTTTCATGTGCATGTCTGTCTTCCATGAAACTATGCTCTTTATAAAAGAAATTTATTATTATTATTATTATTATTATTATTATTATTATTATTTGCTCCATTACCCAGGCTGGAGTGTAGTGGCACAATCATTGCTCACTGCAGCCTCCAACTCTTGGGTTCCAGCGATCCTCTCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCACCATGCCCAGATAATTTT... | pathogenic | 57,547 |
Determine whether the variant at chromosome 2, position 227032149, in gene COL4A4 (collagen type IV alpha 4 chain) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'COL4A4-related_disorder', 'Disease_of_glomerular_basement_membrane', 'Focal_segmental_glomerulosclerosis', 'Hematuria,_benign_familial,_1', 'Inborn_genetic_diseases'] | GTTAAATCACATAAAGTATGAAAGTTCACTTGTTTTTACTTGCTAAAATGTGTCTACTATATTTTTAAATTGCACATGTGGCTTGCATTACATTTCTACTGTTCAATTCTGGCCTGGAAGATTATCAAGAGTATTATTAGGGGCTAAAGATGAACTTGTGTTTCTTCCTTTTACTTGTCCAACTTTGACCCAAACTTCAGGACTCTTTGGGGAAATAAGGACATTTTGGAAGGTAGTCACTTTGTTTGCATAGGAAATAGAAATGGCGGCACAGTACCCCAGACCCTCAAGGGTAAGATAACCAAGTTATTCACATATTA... | GTTAAATCACATAAAGTATGAAAGTTCACTTGTTTTTACTTGCTAAAATGTGTCTACTATATTTTTAAATTGCACATGTGGCTTGCATTACATTTCTACTGTTCAATTCTGGCCTGGAAGATTATCAAGAGTATTATTAGGGGCTAAAGATGAACTTGTGTTTCTTCCTTTTACTTGTCCAACTTTGACCCAAACTTCAGGACTCTTTGGGGAAATAAGGACATTTTGGAAGGTAGTCACTTTGTTTGCATAGGAAATAGAAATGGCGGCACAGTACCCCAGACCCTCAAGGGTAAGATAACCAAGTTATTCACATATTA... | pathogenic | 57,553 |
Is the variant located on chromosome 2 at position 227032166, gene COL4A4 (collagen type IV alpha 4 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic | ATGAAAGTTCACTTGTTTTTACTTGCTAAAATGTGTCTACTATATTTTTAAATTGCACATGTGGCTTGCATTACATTTCTACTGTTCAATTCTGGCCTGGAAGATTATCAAGAGTATTATTAGGGGCTAAAGATGAACTTGTGTTTCTTCCTTTTACTTGTCCAACTTTGACCCAAACTTCAGGACTCTTTGGGGAAATAAGGACATTTTGGAAGGTAGTCACTTTGTTTGCATAGGAAATAGAAATGGCGGCACAGTACCCCAGACCCTCAAGGGTAAGATAACCAAGTTATTCACATATTACTTAACGGAACAACATT... | ATGAAAGTTCACTTGTTTTTACTTGCTAAAATGTGTCTACTATATTTTTAAATTGCACATGTGGCTTGCATTACATTTCTACTGTTCAATTCTGGCCTGGAAGATTATCAAGAGTATTATTAGGGGCTAAAGATGAACTTGTGTTTCTTCCTTTTACTTGTCCAACTTTGACCCAAACTTCAGGACTCTTTGGGGAAATAAGGACATTTTGGAAGGTAGTCACTTTGTTTGCATAGGAAATAGAAATGGCGGCACAGTACCCCAGACCCTCAAGGGTAAGATAACCAAGTTATTCACATATTACTTAACGGAACAACATT... | pathogenic | 57,554 |
Is chromosome 2, position 227032216, gene COL4A4 (collagen type IV alpha 4 chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | AATTGCACATGTGGCTTGCATTACATTTCTACTGTTCAATTCTGGCCTGGAAGATTATCAAGAGTATTATTAGGGGCTAAAGATGAACTTGTGTTTCTTCCTTTTACTTGTCCAACTTTGACCCAAACTTCAGGACTCTTTGGGGAAATAAGGACATTTTGGAAGGTAGTCACTTTGTTTGCATAGGAAATAGAAATGGCGGCACAGTACCCCAGACCCTCAAGGGTAAGATAACCAAGTTATTCACATATTACTTAACGGAACAACATTCATACCTTTCTGGCCATCTTTTCCATCACATCCTGGAAAGCCTTTGTATC... | AATTGCACATGTGGCTTGCATTACATTTCTACTGTTCAATTCTGGCCTGGAAGATTATCAAGAGTATTATTAGGGGCTAAAGATGAACTTGTGTTTCTTCCTTTTACTTGTCCAACTTTGACCCAAACTTCAGGACTCTTTGGGGAAATAAGGACATTTTGGAAGGTAGTCACTTTGTTTGCATAGGAAATAGAAATGGCGGCACAGTACCCCAGACCCTCAAGGGTAAGATAACCAAGTTATTCACATATTACTTAACGGAACAACATTCATACCTTTCTGGCCATCTTTTCCATCACATCCTGGAAAGCCTTTGTATC... | pathogenic | 57,557 |
Does the variant on chromosome 2 at location 227043160 affecting gene COL4A4 (collagen type IV alpha 4 chain) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | TTGTTTTCTCTTCCACTTATCATGATCAGTAAATATATATTCATTTCCACATATATTATTAATGTCTTTCTCTCCTGCCATACTGTCAGCTCCATGAGGGCAGGAAGCAGGTCTATTTTCTTCAAAACTGTACACCCAGCATCTAGCACAGAATCTAGGATAGTAGGAGCTTAACCATAGGTGAAGGGAATACATGAATAATGGGCCTGAACATCATAAAAATCATTTGGCTAAATGCCTTCAGAAATAAGATGGTAGCAACCGGGCGCTCACATCCTAGCACTTCAGGAGGCCGAGGCGGGTGGATCATTTGAGGTCAG... | TTGTTTTCTCTTCCACTTATCATGATCAGTAAATATATATTCATTTCCACATATATTATTAATGTCTTTCTCTCCTGCCATACTGTCAGCTCCATGAGGGCAGGAAGCAGGTCTATTTTCTTCAAAACTGTACACCCAGCATCTAGCACAGAATCTAGGATAGTAGGAGCTTAACCATAGGTGAAGGGAATACATGAATAATGGGCCTGAACATCATAAAAATCATTTGGCTAAATGCCTTCAGAAATAAGATGGTAGCAACCGGGCGCTCACATCCTAGCACTTCAGGAGGCCGAGGCGGGTGGATCATTTGAGGTCAG... | pathogenic | 57,572 |
Does the genetic variant at chromosome 2, position 227043161, impacting gene COL4A4 (collagen type IV alpha 4 chain), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | TGTTTTCTCTTCCACTTATCATGATCAGTAAATATATATTCATTTCCACATATATTATTAATGTCTTTCTCTCCTGCCATACTGTCAGCTCCATGAGGGCAGGAAGCAGGTCTATTTTCTTCAAAACTGTACACCCAGCATCTAGCACAGAATCTAGGATAGTAGGAGCTTAACCATAGGTGAAGGGAATACATGAATAATGGGCCTGAACATCATAAAAATCATTTGGCTAAATGCCTTCAGAAATAAGATGGTAGCAACCGGGCGCTCACATCCTAGCACTTCAGGAGGCCGAGGCGGGTGGATCATTTGAGGTCAGG... | TGTTTTCTCTTCCACTTATCATGATCAGTAAATATATATTCATTTCCACATATATTATTAATGTCTTTCTCTCCTGCCATACTGTCAGCTCCATGAGGGCAGGAAGCAGGTCTATTTTCTTCAAAACTGTACACCCAGCATCTAGCACAGAATCTAGGATAGTAGGAGCTTAACCATAGGTGAAGGGAATACATGAATAATGGGCCTGAACATCATAAAAATCATTTGGCTAAATGCCTTCAGAAATAAGATGGTAGCAACCGGGCGCTCACATCCTAGCACTTCAGGAGGCCGAGGCGGGTGGATCATTTGAGGTCAGG... | pathogenic | 57,573 |
Is the genetic variant on chromosome 2, position 227050104, gene COL4A4 (collagen type IV alpha 4 chain), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | CATGACTCCCACAGTCCCACAAAGCTACTGGTCACTCCATAATGCTTCCAGACACAAGGACCTACATTATGGTTGGGAGCCAGTTTGAAGTGGAGGACTCAAAATGGAGTGGGAGGAAAGGCAAGAAAATAGATGGGGTTTCAAGAGAATTACAGAGGTAAGTTAGATGTATCTTATAGTAACTGCCCATTTACACTCCTTTCTAAAGGAGTTCCACCAGCACCTTGTGGAAGTCTTTCTCCTATCTGATTTTACTCATAATAATGGCCAATTGCTTGAGGGGTGGGATTCTGGCCCATTCCAGGTCAAACAAGTCTTTC... | CATGACTCCCACAGTCCCACAAAGCTACTGGTCACTCCATAATGCTTCCAGACACAAGGACCTACATTATGGTTGGGAGCCAGTTTGAAGTGGAGGACTCAAAATGGAGTGGGAGGAAAGGCAAGAAAATAGATGGGGTTTCAAGAGAATTACAGAGGTAAGTTAGATGTATCTTATAGTAACTGCCCATTTACACTCCTTTCTAAAGGAGTTCCACCAGCACCTTGTGGAAGTCTTTCTCCTATCTGATTTTACTCATAATAATGGCCAATTGCTTGAGGGGTGGGATTCTGGCCCATTCCAGGTCAAACAAGTCTTTC... | pathogenic | 57,590 |
Chromosome 2, position 227051122, gene COL4A4 (collagen type IV alpha 4 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_Alport_syndrome'] | CTGTGAATTTACAGCTAGTTACGCTAAGGCTAAGGTTAAAAAGGTAAATCATTTTAAAGTAGATTTAAAGAAAAATATTAACCCAATGGTATACCAAGATAGTAAAACTATTAAAGGTTTTATGCAAACATTGCAACTAAGATATCCTGCTCTTTGTTTGTTTACTTGTTTGTCTGAATAAAGGGTTAATGAAGCCTCTCTTTCACTAGAATGTTAGGTGTGTTACAATGCAGCACTGTTTTTGACACAAGGTAAACTAAGGCCCGTGGGGCCAAATCTAGCCTGCAGCCAATTTTGCAAATAAAGTTCTATTGGAAAAC... | CTGTGAATTTACAGCTAGTTACGCTAAGGCTAAGGTTAAAAAGGTAAATCATTTTAAAGTAGATTTAAAGAAAAATATTAACCCAATGGTATACCAAGATAGTAAAACTATTAAAGGTTTTATGCAAACATTGCAACTAAGATATCCTGCTCTTTGTTTGTTTACTTGTTTGTCTGAATAAAGGGTTAATGAAGCCTCTCTTTCACTAGAATGTTAGGTGTGTTACAATGCAGCACTGTTTTTGACACAAGGTAAACTAAGGCCCGTGGGGCCAAATCTAGCCTGCAGCCAATTTTGCAAATAAAGTTCTATTGGAAAAC... | pathogenic | 57,597 |
Gene COL4A4 (collagen type IV alpha 4 chain) variant at chromosome 2, position 227052304—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | GTTTAAATGCATGCAAGCCTCCCACTACATGTATCTAGTTTTTCAAAGTTGATATAGCTTCTCCAGAATTAGAGTTCTCAGTCGCAACTGGTAGCATCCCATTCTCTACACTTGGTTGTGAAACAGTAATTGTGTTACTAATTTGAATTTTAAATTACAAATAAACAAGTTGATACTAAATAAAATAGTATTATAAATCACAGCATATGAAAGACTTTACAAATCCATTTCATTCCAAAAGATGGATAGTGAGTTACGTGTTTTCCAGAAGTATAATGTTGGCAACTACATGTATTGTACCTCCTGGATTCTGAAAGGGT... | GTTTAAATGCATGCAAGCCTCCCACTACATGTATCTAGTTTTTCAAAGTTGATATAGCTTCTCCAGAATTAGAGTTCTCAGTCGCAACTGGTAGCATCCCATTCTCTACACTTGGTTGTGAAACAGTAATTGTGTTACTAATTTGAATTTTAAATTACAAATAAACAAGTTGATACTAAATAAAATAGTATTATAAATCACAGCATATGAAAGACTTTACAAATCCATTTCATTCCAAAAGATGGATAGTGAGTTACGTGTTTTCCAGAAGTATAATGTTGGCAACTACATGTATTGTACCTCCTGGATTCTGAAAGGGT... | pathogenic | 57,602 |
Gene COL4A4 (collagen type IV alpha 4 chain) variant at chromosome position 227054627 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | TCAGTCATCTTTTACGTTCCTGACCCCATTTGTCCAGCCACAGAGTCTGGTGTGCCAGGAGTGCTCACTGAATGTTTGCCAAATTCAACCAAACTGGTCGGGGTCTTCACTGAGGTTAAGACAGATTTGAAAAGTTCCAGTCTAAAAAAATGTCGCTTTGTTCTATAAAATTTGGATTTGCCCATCTCATATTTCCAGTTCCATATCTCCTCCTAGCCATCCTCTCTTACTTTCCTTATATTAAAAGAACAGACACTTATCTCAATGTGGTACCCCTCACACTGACTTCTGAAAGGTAGGAAGGGCATACCGTACTTCTG... | TCAGTCATCTTTTACGTTCCTGACCCCATTTGTCCAGCCACAGAGTCTGGTGTGCCAGGAGTGCTCACTGAATGTTTGCCAAATTCAACCAAACTGGTCGGGGTCTTCACTGAGGTTAAGACAGATTTGAAAAGTTCCAGTCTAAAAAAATGTCGCTTTGTTCTATAAAATTTGGATTTGCCCATCTCATATTTCCAGTTCCATATCTCCTCCTAGCCATCCTCTCTTACTTTCCTTATATTAAAAGAACAGACACTTATCTCAATGTGGTACCCCTCACACTGACTTCTGAAAGGTAGGAAGGGCATACCGTACTTCTG... | pathogenic | 57,614 |
Mutation at chromosome 2, position 227054709, within COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Alport_syndrome'] | ATTCAACCAAACTGGTCGGGGTCTTCACTGAGGTTAAGACAGATTTGAAAAGTTCCAGTCTAAAAAAATGTCGCTTTGTTCTATAAAATTTGGATTTGCCCATCTCATATTTCCAGTTCCATATCTCCTCCTAGCCATCCTCTCTTACTTTCCTTATATTAAAAGAACAGACACTTATCTCAATGTGGTACCCCTCACACTGACTTCTGAAAGGTAGGAAGGGCATACCGTACTTCTGCCTGATTTTGCAAACACTGGCCAGCTGTAGCAATGTGCAGGCGTGGGCTCCTACCAGCTTGACGAGTGCCAGTTACCACAAT... | ATTCAACCAAACTGGTCGGGGTCTTCACTGAGGTTAAGACAGATTTGAAAAGTTCCAGTCTAAAAAAATGTCGCTTTGTTCTATAAAATTTGGATTTGCCCATCTCATATTTCCAGTTCCATATCTCCTCCTAGCCATCCTCTCTTACTTTCCTTATATTAAAAGAACAGACACTTATCTCAATGTGGTACCCCTCACACTGACTTCTGAAAGGTAGGAAGGGCATACCGTACTTCTGCCTGATTTTGCAAACACTGGCCAGCTGTAGCAATGTGCAGGCGTGGGCTCCTACCAGCTTGACGAGTGCCAGTTACCACAAT... | pathogenic | 57,618 |
Regarding the variant found on chromosome 2 at position 227055996 in gene COL4A4 (collagen type IV alpha 4 chain): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | GCCAAATCCTTCCTGCTGCCAGTTTCTGTACAGCACATGAGATGCGAATGATTTTTACACTGTGAAATGGTTGAGGGGTAAAACTCAAAAACAAGGTAATATTTCATGGTGTGAAAATTATATGAAATTCAAACCTTAGTATCCATAAATACCATCTTACTGAAAATTGTATTTTATGTTTGTTTCTGTGTTGTCTATGTCTGCTTTCATGCTACAAAAGCAGACTTGAGTCGTTGTGACAGAGACCAGATGGTCTGCAAAGCCTGAAATTGTTATTATCAGGCTTTTTACAGGAAGAGCTTACCAACTTCTGTTCTAAC... | GCCAAATCCTTCCTGCTGCCAGTTTCTGTACAGCACATGAGATGCGAATGATTTTTACACTGTGAAATGGTTGAGGGGTAAAACTCAAAAACAAGGTAATATTTCATGGTGTGAAAATTATATGAAATTCAAACCTTAGTATCCATAAATACCATCTTACTGAAAATTGTATTTTATGTTTGTTTCTGTGTTGTCTATGTCTGCTTTCATGCTACAAAAGCAGACTTGAGTCGTTGTGACAGAGACCAGATGGTCTGCAAAGCCTGAAATTGTTATTATCAGGCTTTTTACAGGAAGAGCTTACCAACTTCTGTTCTAAC... | pathogenic | 57,625 |
Chromosome 2, position 227056022, gene COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'COL4A4-related_disorder', 'Glomerulonephritis', 'Hematuria,_benign_familial,_1'] | TGTACAGCACATGAGATGCGAATGATTTTTACACTGTGAAATGGTTGAGGGGTAAAACTCAAAAACAAGGTAATATTTCATGGTGTGAAAATTATATGAAATTCAAACCTTAGTATCCATAAATACCATCTTACTGAAAATTGTATTTTATGTTTGTTTCTGTGTTGTCTATGTCTGCTTTCATGCTACAAAAGCAGACTTGAGTCGTTGTGACAGAGACCAGATGGTCTGCAAAGCCTGAAATTGTTATTATCAGGCTTTTTACAGGAAGAGCTTACCAACTTCTGTTCTAACTGAAACAGAGGTTGGAGAACAAGAGC... | TGTACAGCACATGAGATGCGAATGATTTTTACACTGTGAAATGGTTGAGGGGTAAAACTCAAAAACAAGGTAATATTTCATGGTGTGAAAATTATATGAAATTCAAACCTTAGTATCCATAAATACCATCTTACTGAAAATTGTATTTTATGTTTGTTTCTGTGTTGTCTATGTCTGCTTTCATGCTACAAAAGCAGACTTGAGTCGTTGTGACAGAGACCAGATGGTCTGCAAAGCCTGAAATTGTTATTATCAGGCTTTTTACAGGAAGAGCTTACCAACTTCTGTTCTAACTGAAACAGAGGTTGGAGAACAAGAGC... | pathogenic | 57,626 |
Mutation found at chromosome 2 position 227056044, gene COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | TGATTTTTACACTGTGAAATGGTTGAGGGGTAAAACTCAAAAACAAGGTAATATTTCATGGTGTGAAAATTATATGAAATTCAAACCTTAGTATCCATAAATACCATCTTACTGAAAATTGTATTTTATGTTTGTTTCTGTGTTGTCTATGTCTGCTTTCATGCTACAAAAGCAGACTTGAGTCGTTGTGACAGAGACCAGATGGTCTGCAAAGCCTGAAATTGTTATTATCAGGCTTTTTACAGGAAGAGCTTACCAACTTCTGTTCTAACTGAAACAGAGGTTGGAGAACAAGAGCCCCCTTTCCCAAAAGGTGAGAA... | TGATTTTTACACTGTGAAATGGTTGAGGGGTAAAACTCAAAAACAAGGTAATATTTCATGGTGTGAAAATTATATGAAATTCAAACCTTAGTATCCATAAATACCATCTTACTGAAAATTGTATTTTATGTTTGTTTCTGTGTTGTCTATGTCTGCTTTCATGCTACAAAAGCAGACTTGAGTCGTTGTGACAGAGACCAGATGGTCTGCAAAGCCTGAAATTGTTATTATCAGGCTTTTTACAGGAAGAGCTTACCAACTTCTGTTCTAACTGAAACAGAGGTTGGAGAACAAGAGCCCCCTTTCCCAAAAGGTGAGAA... | pathogenic | 57,628 |
Assess the variant on chromosome 2, position 227057598, impacting COL4A4 (collagen type IV alpha 4 chain): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | CCGCCCCATCCTCAGTTTCCTACCTACAGACCTGAAGTGTGGGCCCTGATGTGTCTGAGTCCTAATCCCCTAACAGGGGGTAGGGATGAGAGTGGGGACCCCCTCCAAAATGAAAATGCACCCTTCCCGACCCTAGGAGTTTACCGTGCTACCCAGTCTTCATGAATTCTGTGGCCCTAACACCTACAAACCCCTTTTCCCATTGACCGGTACAGAAACATTTCGCCACTGGAAATAACGATACAGAGGACAAGAGCAAGGGAGGCATCATTAAGGGAAGGACAAAGCCAGACTAACAGTTAACTCTTTTTGTGTGGTCA... | CCGCCCCATCCTCAGTTTCCTACCTACAGACCTGAAGTGTGGGCCCTGATGTGTCTGAGTCCTAATCCCCTAACAGGGGGTAGGGATGAGAGTGGGGACCCCCTCCAAAATGAAAATGCACCCTTCCCGACCCTAGGAGTTTACCGTGCTACCCAGTCTTCATGAATTCTGTGGCCCTAACACCTACAAACCCCTTTTCCCATTGACCGGTACAGAAACATTTCGCCACTGGAAATAACGATACAGAGGACAAGAGCAAGGGAGGCATCATTAAGGGAAGGACAAAGCCAGACTAACAGTTAACTCTTTTTGTGTGGTCA... | pathogenic | 57,645 |
A genetic variant at chromosome 2, position 227059410, affecting gene COL4A4 (collagen type IV alpha 4 chain)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | CATAAAAGAGTAAAAGGGGAGCTTATTTAATTGTAAGTAGGGTAAGCCCCAGACCCTTCACAGTTCTTGACACTTACCTGGGCTACCTGGATACCCAGGGAGTCCCGGTTGCCCTGGTATCCCTGGAGCACCTCTTTCACAGGAATGGCCAGGTGGACCTGGGACACCTGGAAACCCAGCATGTCCCTCTCTGCCTTTGGGACCTTTGAGACCTAGGAATCCAGGAATGCCAGCTGGCCCTGAAATGATACAATACATCCATGACATTCATGACAAAAAACTATACAGATGGCCCATGATGAATTGTTCACGCATATCAA... | CATAAAAGAGTAAAAGGGGAGCTTATTTAATTGTAAGTAGGGTAAGCCCCAGACCCTTCACAGTTCTTGACACTTACCTGGGCTACCTGGATACCCAGGGAGTCCCGGTTGCCCTGGTATCCCTGGAGCACCTCTTTCACAGGAATGGCCAGGTGGACCTGGGACACCTGGAAACCCAGCATGTCCCTCTCTGCCTTTGGGACCTTTGAGACCTAGGAATCCAGGAATGCCAGCTGGCCCTGAAATGATACAATACATCCATGACATTCATGACAAAAAACTATACAGATGGCCCATGATGAATTGTTCACGCATATCAA... | pathogenic | 57,651 |
For chromosome 2, position 227059475, gene COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic | CTTGACACTTACCTGGGCTACCTGGATACCCAGGGAGTCCCGGTTGCCCTGGTATCCCTGGAGCACCTCTTTCACAGGAATGGCCAGGTGGACCTGGGACACCTGGAAACCCAGCATGTCCCTCTCTGCCTTTGGGACCTTTGAGACCTAGGAATCCAGGAATGCCAGCTGGCCCTGAAATGATACAATACATCCATGACATTCATGACAAAAAACTATACAGATGGCCCATGATGAATTGTTCACGCATATCAATACTGGAGGTGAACATTTTCATCCTGAATCAGTGTTCAAATGGGTTAAGTCTTTGAGTGGATTTT... | CTTGACACTTACCTGGGCTACCTGGATACCCAGGGAGTCCCGGTTGCCCTGGTATCCCTGGAGCACCTCTTTCACAGGAATGGCCAGGTGGACCTGGGACACCTGGAAACCCAGCATGTCCCTCTCTGCCTTTGGGACCTTTGAGACCTAGGAATCCAGGAATGCCAGCTGGCCCTGAAATGATACAATACATCCATGACATTCATGACAAAAAACTATACAGATGGCCCATGATGAATTGTTCACGCATATCAATACTGGAGGTGAACATTTTCATCCTGAATCAGTGTTCAAATGGGTTAAGTCTTTGAGTGGATTTT... | pathogenic | 57,657 |
The chromosome 2, position 227059508 genetic variant in gene COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Alport_syndrome', 'Autosomal_recessive_Alport_syndrome'] | GGAGTCCCGGTTGCCCTGGTATCCCTGGAGCACCTCTTTCACAGGAATGGCCAGGTGGACCTGGGACACCTGGAAACCCAGCATGTCCCTCTCTGCCTTTGGGACCTTTGAGACCTAGGAATCCAGGAATGCCAGCTGGCCCTGAAATGATACAATACATCCATGACATTCATGACAAAAAACTATACAGATGGCCCATGATGAATTGTTCACGCATATCAATACTGGAGGTGAACATTTTCATCCTGAATCAGTGTTCAAATGGGTTAAGTCTTTGAGTGGATTTTCTTATCATAGATGTAATGAGTTCCTTATGAACA... | GGAGTCCCGGTTGCCCTGGTATCCCTGGAGCACCTCTTTCACAGGAATGGCCAGGTGGACCTGGGACACCTGGAAACCCAGCATGTCCCTCTCTGCCTTTGGGACCTTTGAGACCTAGGAATCCAGGAATGCCAGCTGGCCCTGAAATGATACAATACATCCATGACATTCATGACAAAAAACTATACAGATGGCCCATGATGAATTGTTCACGCATATCAATACTGGAGGTGAACATTTTCATCCTGAATCAGTGTTCAAATGGGTTAAGTCTTTGAGTGGATTTTCTTATCATAGATGTAATGAGTTCCTTATGAACA... | pathogenic | 57,658 |
Is the chromosome 2, position 227059568 variant in COL4A4 (collagen type IV alpha 4 chain) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria', 'COL4A4-related_disorder'] | CTGGGACACCTGGAAACCCAGCATGTCCCTCTCTGCCTTTGGGACCTTTGAGACCTAGGAATCCAGGAATGCCAGCTGGCCCTGAAATGATACAATACATCCATGACATTCATGACAAAAAACTATACAGATGGCCCATGATGAATTGTTCACGCATATCAATACTGGAGGTGAACATTTTCATCCTGAATCAGTGTTCAAATGGGTTAAGTCTTTGAGTGGATTTTCTTATCATAGATGTAATGAGTTCCTTATGAACAGAGAAACAACGCATTGCTAAGTGAGTTACTTGATAAGGTTATGTGGACTGCAGTTGCCTA... | CTGGGACACCTGGAAACCCAGCATGTCCCTCTCTGCCTTTGGGACCTTTGAGACCTAGGAATCCAGGAATGCCAGCTGGCCCTGAAATGATACAATACATCCATGACATTCATGACAAAAAACTATACAGATGGCCCATGATGAATTGTTCACGCATATCAATACTGGAGGTGAACATTTTCATCCTGAATCAGTGTTCAAATGGGTTAAGTCTTTGAGTGGATTTTCTTATCATAGATGTAATGAGTTCCTTATGAACAGAGAAACAACGCATTGCTAAGTGAGTTACTTGATAAGGTTATGTGGACTGCAGTTGCCTA... | pathogenic | 57,663 |
Is the genetic change at chromosome 2, position 227059616, within gene COL4A4 (collagen type IV alpha 4 chain) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | TGAGACCTAGGAATCCAGGAATGCCAGCTGGCCCTGAAATGATACAATACATCCATGACATTCATGACAAAAAACTATACAGATGGCCCATGATGAATTGTTCACGCATATCAATACTGGAGGTGAACATTTTCATCCTGAATCAGTGTTCAAATGGGTTAAGTCTTTGAGTGGATTTTCTTATCATAGATGTAATGAGTTCCTTATGAACAGAGAAACAACGCATTGCTAAGTGAGTTACTTGATAAGGTTATGTGGACTGCAGTTGCCTATGCAAATAAGAAACCACTTGGTTCTTCCTAATTTTAATTAACCTCTAA... | TGAGACCTAGGAATCCAGGAATGCCAGCTGGCCCTGAAATGATACAATACATCCATGACATTCATGACAAAAAACTATACAGATGGCCCATGATGAATTGTTCACGCATATCAATACTGGAGGTGAACATTTTCATCCTGAATCAGTGTTCAAATGGGTTAAGTCTTTGAGTGGATTTTCTTATCATAGATGTAATGAGTTCCTTATGAACAGAGAAACAACGCATTGCTAAGTGAGTTACTTGATAAGGTTATGTGGACTGCAGTTGCCTATGCAAATAAGAAACCACTTGGTTCTTCCTAATTTTAATTAACCTCTAA... | pathogenic | 57,665 |
Regarding the variant at chromosome 2 and position 227059635, affecting gene COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AATGCCAGCTGGCCCTGAAATGATACAATACATCCATGACATTCATGACAAAAAACTATACAGATGGCCCATGATGAATTGTTCACGCATATCAATACTGGAGGTGAACATTTTCATCCTGAATCAGTGTTCAAATGGGTTAAGTCTTTGAGTGGATTTTCTTATCATAGATGTAATGAGTTCCTTATGAACAGAGAAACAACGCATTGCTAAGTGAGTTACTTGATAAGGTTATGTGGACTGCAGTTGCCTATGCAAATAAGAAACCACTTGGTTCTTCCTAATTTTAATTAACCTCTAACTTTGCATCAGGCTTTACA... | AATGCCAGCTGGCCCTGAAATGATACAATACATCCATGACATTCATGACAAAAAACTATACAGATGGCCCATGATGAATTGTTCACGCATATCAATACTGGAGGTGAACATTTTCATCCTGAATCAGTGTTCAAATGGGTTAAGTCTTTGAGTGGATTTTCTTATCATAGATGTAATGAGTTCCTTATGAACAGAGAAACAACGCATTGCTAAGTGAGTTACTTGATAAGGTTATGTGGACTGCAGTTGCCTATGCAAATAAGAAACCACTTGGTTCTTCCTAATTTTAATTAACCTCTAACTTTGCATCAGGCTTTACA... | benign | 57,666 |
Is the genetic mutation found on chromosome 2 at position 227060116, within the gene COL4A4 (collagen type IV alpha 4 chain), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCTACTTTGTTTTCCTATGTTTTCTTTACATTTTGGTTCATATGTTTACATTTAAAAATAGTAATCAGTGCAAATTCAGTTGTTGGAGCGCTTCAGATTGCATATTAATCTGCAAATGTTTTCCAGTTTGTTGCAGTCTTTACAAATATGATTTAAATTGCTAATGGCTGGATGGTATTCCTTTGAGAGATAGAGTGTGTGTGTATGTGTGTGTGTGTGTCTGTCTTTGTTCTTTCCAATTATTCCTCTGCTGTGGATAATACTACAAGGGCATTTTCATATCTATAACCTTCTTCCATTGAACACTTCCCTTAGATATA... | TCTACTTTGTTTTCCTATGTTTTCTTTACATTTTGGTTCATATGTTTACATTTAAAAATAGTAATCAGTGCAAATTCAGTTGTTGGAGCGCTTCAGATTGCATATTAATCTGCAAATGTTTTCCAGTTTGTTGCAGTCTTTACAAATATGATTTAAATTGCTAATGGCTGGATGGTATTCCTTTGAGAGATAGAGTGTGTGTGTATGTGTGTGTGTGTGTCTGTCTTTGTTCTTTCCAATTATTCCTCTGCTGTGGATAATACTACAAGGGCATTTTCATATCTATAACCTTCTTCCATTGAACACTTCCCTTAGATATA... | benign | 57,670 |
Does the genetic variant at chromosome 2, position 227060120, impacting gene COL4A4 (collagen type IV alpha 4 chain), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CTTTGTTTTCCTATGTTTTCTTTACATTTTGGTTCATATGTTTACATTTAAAAATAGTAATCAGTGCAAATTCAGTTGTTGGAGCGCTTCAGATTGCATATTAATCTGCAAATGTTTTCCAGTTTGTTGCAGTCTTTACAAATATGATTTAAATTGCTAATGGCTGGATGGTATTCCTTTGAGAGATAGAGTGTGTGTGTATGTGTGTGTGTGTGTCTGTCTTTGTTCTTTCCAATTATTCCTCTGCTGTGGATAATACTACAAGGGCATTTTCATATCTATAACCTTCTTCCATTGAACACTTCCCTTAGATATATTTT... | CTTTGTTTTCCTATGTTTTCTTTACATTTTGGTTCATATGTTTACATTTAAAAATAGTAATCAGTGCAAATTCAGTTGTTGGAGCGCTTCAGATTGCATATTAATCTGCAAATGTTTTCCAGTTTGTTGCAGTCTTTACAAATATGATTTAAATTGCTAATGGCTGGATGGTATTCCTTTGAGAGATAGAGTGTGTGTGTATGTGTGTGTGTGTGTCTGTCTTTGTTCTTTCCAATTATTCCTCTGCTGTGGATAATACTACAAGGGCATTTTCATATCTATAACCTTCTTCCATTGAACACTTCCCTTAGATATATTTT... | benign | 57,671 |
Does the chromosome 2 mutation at position 227060184 within gene COL4A4 (collagen type IV alpha 4 chain) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | TGCAAATTCAGTTGTTGGAGCGCTTCAGATTGCATATTAATCTGCAAATGTTTTCCAGTTTGTTGCAGTCTTTACAAATATGATTTAAATTGCTAATGGCTGGATGGTATTCCTTTGAGAGATAGAGTGTGTGTGTATGTGTGTGTGTGTGTCTGTCTTTGTTCTTTCCAATTATTCCTCTGCTGTGGATAATACTACAAGGGCATTTTCATATCTATAACCTTCTTCCATTGAACACTTCCCTTAGATATATTTTCACAAGTGAGATAGTCGGATTACTGGGTCATTATTTTTATTGACTTACATTATGTTTCACCTGT... | TGCAAATTCAGTTGTTGGAGCGCTTCAGATTGCATATTAATCTGCAAATGTTTTCCAGTTTGTTGCAGTCTTTACAAATATGATTTAAATTGCTAATGGCTGGATGGTATTCCTTTGAGAGATAGAGTGTGTGTGTATGTGTGTGTGTGTGTCTGTCTTTGTTCTTTCCAATTATTCCTCTGCTGTGGATAATACTACAAGGGCATTTTCATATCTATAACCTTCTTCCATTGAACACTTCCCTTAGATATATTTTCACAAGTGAGATAGTCGGATTACTGGGTCATTATTTTTATTGACTTACATTATGTTTCACCTGT... | pathogenic | 57,673 |
Located at chromosome 2 position 227062473, the variant affecting gene COL4A4 (collagen type IV alpha 4 chain)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TTTTCTAGGAGTGATTTTGTTAAGGCACTTTCTCAGAAGCCATCCTGTGAAGGATTCTTCCTGAAAGCCTTTGGAACTTGTACCACCATTCAGGTGACTTTTTTTGGTATCTTCCCATGCTAGGTCTGAAACACGACTATGCAACCATTGTCTGCCCTTGTAGGGGTAAAGAGGTGGTGGCCAGTGTCTACCTTGACAAGAAAGGATCAGATTAAAGACCAAAATCTATTTCCCTGCATCTTACTGAATTTGCCCTTAAATGAAGTATAGGCAAAAAGCACTTGCAAAAAGTAATAGAGAATTTTTTTTTTTTTTTTTTT... | TTTTCTAGGAGTGATTTTGTTAAGGCACTTTCTCAGAAGCCATCCTGTGAAGGATTCTTCCTGAAAGCCTTTGGAACTTGTACCACCATTCAGGTGACTTTTTTTGGTATCTTCCCATGCTAGGTCTGAAACACGACTATGCAACCATTGTCTGCCCTTGTAGGGGTAAAGAGGTGGTGGCCAGTGTCTACCTTGACAAGAAAGGATCAGATTAAAGACCAAAATCTATTTCCCTGCATCTTACTGAATTTGCCCTTAAATGAAGTATAGGCAAAAAGCACTTGCAAAAAGTAATAGAGAATTTTTTTTTTTTTTTTTTT... | benign | 57,679 |
Does the variant impacting COL4A4 (collagen type IV alpha 4 chain) on chromosome 2, position 227077878, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TATACATCAACAATAGGCAAGCAGAGAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTACAAAGAGAAAAAAATACCTAGGAATACAACTTACAAGGAATATGAAGGACCTCTTCAAGGAGAACTACAAACTACTGCTCAAAGAAATAAGAGAGGACACAAACAAATGGAAAAACATTATACACTCTTGGATAGGAAGAATCAATATCATGAAAATGGCCATACTGCCCAAAGTAATTTATAGCTTCAGTACTATTCCCATCAAGCTATCATTGACTTTCTTCACAGAATTAGAAAAAAAAATTACTTTAAATTTC... | TATACATCAACAATAGGCAAGCAGAGAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTACAAAGAGAAAAAAATACCTAGGAATACAACTTACAAGGAATATGAAGGACCTCTTCAAGGAGAACTACAAACTACTGCTCAAAGAAATAAGAGAGGACACAAACAAATGGAAAAACATTATACACTCTTGGATAGGAAGAATCAATATCATGAAAATGGCCATACTGCCCAAAGTAATTTATAGCTTCAGTACTATTCCCATCAAGCTATCATTGACTTTCTTCACAGAATTAGAAAAAAAAATTACTTTAAATTTC... | benign | 57,684 |
Gene mutation in COL4A4 (collagen type IV alpha 4 chain) at chromosome 2, position 227077928—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | TTCACAATTGCTACAAAGAGAAAAAAATACCTAGGAATACAACTTACAAGGAATATGAAGGACCTCTTCAAGGAGAACTACAAACTACTGCTCAAAGAAATAAGAGAGGACACAAACAAATGGAAAAACATTATACACTCTTGGATAGGAAGAATCAATATCATGAAAATGGCCATACTGCCCAAAGTAATTTATAGCTTCAGTACTATTCCCATCAAGCTATCATTGACTTTCTTCACAGAATTAGAAAAAAAAATTACTTTAAATTTCACATGGAACCAAAAAAGAGCCCATATAGCCAAGACCATCCTAAGCAAAAA... | TTCACAATTGCTACAAAGAGAAAAAAATACCTAGGAATACAACTTACAAGGAATATGAAGGACCTCTTCAAGGAGAACTACAAACTACTGCTCAAAGAAATAAGAGAGGACACAAACAAATGGAAAAACATTATACACTCTTGGATAGGAAGAATCAATATCATGAAAATGGCCATACTGCCCAAAGTAATTTATAGCTTCAGTACTATTCCCATCAAGCTATCATTGACTTTCTTCACAGAATTAGAAAAAAAAATTACTTTAAATTTCACATGGAACCAAAAAAGAGCCCATATAGCCAAGACCATCCTAAGCAAAAA... | pathogenic | 57,689 |
Regarding the variant at chromosome 2 and position 227077991, affecting gene COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | CTCTTCAAGGAGAACTACAAACTACTGCTCAAAGAAATAAGAGAGGACACAAACAAATGGAAAAACATTATACACTCTTGGATAGGAAGAATCAATATCATGAAAATGGCCATACTGCCCAAAGTAATTTATAGCTTCAGTACTATTCCCATCAAGCTATCATTGACTTTCTTCACAGAATTAGAAAAAAAAATTACTTTAAATTTCACATGGAACCAAAAAAGAGCCCATATAGCCAAGACCATCCTAAGCAAAAAGAACAAAGCTGGAGGGATCAAGCTACCTGACTTCAAACTATACTACAAGTCTACAGTAACCAA... | CTCTTCAAGGAGAACTACAAACTACTGCTCAAAGAAATAAGAGAGGACACAAACAAATGGAAAAACATTATACACTCTTGGATAGGAAGAATCAATATCATGAAAATGGCCATACTGCCCAAAGTAATTTATAGCTTCAGTACTATTCCCATCAAGCTATCATTGACTTTCTTCACAGAATTAGAAAAAAAAATTACTTTAAATTTCACATGGAACCAAAAAAGAGCCCATATAGCCAAGACCATCCTAAGCAAAAAGAACAAAGCTGGAGGGATCAAGCTACCTGACTTCAAACTATACTACAAGTCTACAGTAACCAA... | pathogenic | 57,691 |
A genetic variant on chromosome 2, position 227080460, affects the gene COL4A4 (collagen type IV alpha 4 chain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | TTTGTATTTTTAGTAGAGACTGAGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACCCCTGACCTCCACCTGCCTCAGCCTCCCAAAGTGCAGGGATTACAGGCGTCAGCCACCGCGCCTGGCCAATATACACATTTTACAATTTATATACATACATATAATATAAGCATGTGTGTTAAGCCTCAAATACTGGAAACAATGTGTGTGATATGCCTTAAATACAGAATAAGAGATTTATGTCAAACCATTCTCTAATATCATATGTCATAGAATATAGAAATAAGTAGATCAAGGGAGGTGGTGGGATTACAAATCAAATAC... | TTTGTATTTTTAGTAGAGACTGAGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACCCCTGACCTCCACCTGCCTCAGCCTCCCAAAGTGCAGGGATTACAGGCGTCAGCCACCGCGCCTGGCCAATATACACATTTTACAATTTATATACATACATATAATATAAGCATGTGTGTTAAGCCTCAAATACTGGAAACAATGTGTGTGATATGCCTTAAATACAGAATAAGAGATTTATGTCAAACCATTCTCTAATATCATATGTCATAGAATATAGAAATAAGTAGATCAAGGGAGGTGGTGGGATTACAAATCAAATAC... | pathogenic | 57,698 |
Benign or pathogenic: chromosome 2, position 227080529, gene COL4A4 (collagen type IV alpha 4 chain) variant? Disease(s) if pathogenic? | pathogenic; ['Alport_syndrome'] | TGCCTCAGCCTCCCAAAGTGCAGGGATTACAGGCGTCAGCCACCGCGCCTGGCCAATATACACATTTTACAATTTATATACATACATATAATATAAGCATGTGTGTTAAGCCTCAAATACTGGAAACAATGTGTGTGATATGCCTTAAATACAGAATAAGAGATTTATGTCAAACCATTCTCTAATATCATATGTCATAGAATATAGAAATAAGTAGATCAAGGGAGGTGGTGGGATTACAAATCAAATACATTCTTATGTATTCTCTTGACAAGATACATAGCTAGACTCCATCATCCTCCACCCCTGTGGGTAAAAGC... | TGCCTCAGCCTCCCAAAGTGCAGGGATTACAGGCGTCAGCCACCGCGCCTGGCCAATATACACATTTTACAATTTATATACATACATATAATATAAGCATGTGTGTTAAGCCTCAAATACTGGAAACAATGTGTGTGATATGCCTTAAATACAGAATAAGAGATTTATGTCAAACCATTCTCTAATATCATATGTCATAGAATATAGAAATAAGTAGATCAAGGGAGGTGGTGGGATTACAAATCAAATACATTCTTATGTATTCTCTTGACAAGATACATAGCTAGACTCCATCATCCTCCACCCCTGTGGGTAAAAGC... | pathogenic | 57,702 |
Variant at chromosome position 227088695, chromosome 2, gene COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria', 'Hematuria,_benign_familial,_1'] | CTGAATTAAGTAAACCTTAGCCATGATAACCCTAGATAAACAAGCAGTCCTCACTCAAAGATGTTAGCCCTAAGTAGCAACTCAACAGGAAGCCGCAAAAATATTTTAGAGCCATTAAAATCTTCACTAAGAAGATTAAGTACCAACACACACAAAAATGACTATGGTAAAATGTTGAATGCAAACTACTTAACAATTGCAACCATGCTTATGCACATACATGCATTAAGGACCTAGCTTCCTATTGAGCAGAGGTGGCCAGTGGGCTTTGTACATGTGACAAGGGTACTGCTGGGACACCTTAATCATTAACTTCACTT... | CTGAATTAAGTAAACCTTAGCCATGATAACCCTAGATAAACAAGCAGTCCTCACTCAAAGATGTTAGCCCTAAGTAGCAACTCAACAGGAAGCCGCAAAAATATTTTAGAGCCATTAAAATCTTCACTAAGAAGATTAAGTACCAACACACACAAAAATGACTATGGTAAAATGTTGAATGCAAACTACTTAACAATTGCAACCATGCTTATGCACATACATGCATTAAGGACCTAGCTTCCTATTGAGCAGAGGTGGCCAGTGGGCTTTGTACATGTGACAAGGGTACTGCTGGGACACCTTAATCATTAACTTCACTT... | pathogenic | 57,714 |
Variant at chromosome 2, position 227088721, gene COL4A4 (collagen type IV alpha 4 chain): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | TAACCCTAGATAAACAAGCAGTCCTCACTCAAAGATGTTAGCCCTAAGTAGCAACTCAACAGGAAGCCGCAAAAATATTTTAGAGCCATTAAAATCTTCACTAAGAAGATTAAGTACCAACACACACAAAAATGACTATGGTAAAATGTTGAATGCAAACTACTTAACAATTGCAACCATGCTTATGCACATACATGCATTAAGGACCTAGCTTCCTATTGAGCAGAGGTGGCCAGTGGGCTTTGTACATGTGACAAGGGTACTGCTGGGACACCTTAATCATTAACTTCACTTAAGGCCCTCGGGTTGGAACCTTATTT... | TAACCCTAGATAAACAAGCAGTCCTCACTCAAAGATGTTAGCCCTAAGTAGCAACTCAACAGGAAGCCGCAAAAATATTTTAGAGCCATTAAAATCTTCACTAAGAAGATTAAGTACCAACACACACAAAAATGACTATGGTAAAATGTTGAATGCAAACTACTTAACAATTGCAACCATGCTTATGCACATACATGCATTAAGGACCTAGCTTCCTATTGAGCAGAGGTGGCCAGTGGGCTTTGTACATGTGACAAGGGTACTGCTGGGACACCTTAATCATTAACTTCACTTAAGGCCCTCGGGTTGGAACCTTATTT... | pathogenic | 57,717 |
A genetic variant at chromosome 2, position 227088770, affecting gene COL4A4 (collagen type IV alpha 4 chain)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | AGCAACTCAACAGGAAGCCGCAAAAATATTTTAGAGCCATTAAAATCTTCACTAAGAAGATTAAGTACCAACACACACAAAAATGACTATGGTAAAATGTTGAATGCAAACTACTTAACAATTGCAACCATGCTTATGCACATACATGCATTAAGGACCTAGCTTCCTATTGAGCAGAGGTGGCCAGTGGGCTTTGTACATGTGACAAGGGTACTGCTGGGACACCTTAATCATTAACTTCACTTAAGGCCCTCGGGTTGGAACCTTATTTTCATGAGATTTTCTGGGGAAAATGGAAAAAAGTCCTTTGGGGCTTGATG... | AGCAACTCAACAGGAAGCCGCAAAAATATTTTAGAGCCATTAAAATCTTCACTAAGAAGATTAAGTACCAACACACACAAAAATGACTATGGTAAAATGTTGAATGCAAACTACTTAACAATTGCAACCATGCTTATGCACATACATGCATTAAGGACCTAGCTTCCTATTGAGCAGAGGTGGCCAGTGGGCTTTGTACATGTGACAAGGGTACTGCTGGGACACCTTAATCATTAACTTCACTTAAGGCCCTCGGGTTGGAACCTTATTTTCATGAGATTTTCTGGGGAAAATGGAAAAAAGTCCTTTGGGGCTTGATG... | pathogenic | 57,720 |
Variant in COL4A4 (collagen type IV alpha 4 chain), chromosome 2, position 227088798—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | TTTTAGAGCCATTAAAATCTTCACTAAGAAGATTAAGTACCAACACACACAAAAATGACTATGGTAAAATGTTGAATGCAAACTACTTAACAATTGCAACCATGCTTATGCACATACATGCATTAAGGACCTAGCTTCCTATTGAGCAGAGGTGGCCAGTGGGCTTTGTACATGTGACAAGGGTACTGCTGGGACACCTTAATCATTAACTTCACTTAAGGCCCTCGGGTTGGAACCTTATTTTCATGAGATTTTCTGGGGAAAATGGAAAAAAGTCCTTTGGGGCTTGATGGTCAAGTTCCAGGCCATCCCAGGATTGA... | TTTTAGAGCCATTAAAATCTTCACTAAGAAGATTAAGTACCAACACACACAAAAATGACTATGGTAAAATGTTGAATGCAAACTACTTAACAATTGCAACCATGCTTATGCACATACATGCATTAAGGACCTAGCTTCCTATTGAGCAGAGGTGGCCAGTGGGCTTTGTACATGTGACAAGGGTACTGCTGGGACACCTTAATCATTAACTTCACTTAAGGCCCTCGGGTTGGAACCTTATTTTCATGAGATTTTCTGGGGAAAATGGAAAAAAGTCCTTTGGGGCTTGATGGTCAAGTTCCAGGCCATCCCAGGATTGA... | pathogenic | 57,721 |
Clinically, how would you classify the variant at chromosome 2, position 227089851, gene COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | AAGGCTCAGACCTCACCCATCTGTAAAGCCCCATGCTCTGCAGCCCTTCCTAACCTCCTGCCAGTTCCTTGACTTCATTTCCTGCTCTGCCCCTCTCTCTCTTCTCTCCAGCTACAATCGATGGTGATGGCGTTTATCACCACATGACATACTGGATATTTACTTGCTGATCTGTTAGATGGTCTGTGTCCTCTCTGAAGCTCTAGGAGGGCAGAGACTGGGCTCTGGTCCCTGCTGTATCCCCAGCACCTGAAACAAGGCCTAGAACATAGCAGGCACTTAACAATACCAATTAGTTGAATAAGTAAACGATGGATGAA... | AAGGCTCAGACCTCACCCATCTGTAAAGCCCCATGCTCTGCAGCCCTTCCTAACCTCCTGCCAGTTCCTTGACTTCATTTCCTGCTCTGCCCCTCTCTCTCTTCTCTCCAGCTACAATCGATGGTGATGGCGTTTATCACCACATGACATACTGGATATTTACTTGCTGATCTGTTAGATGGTCTGTGTCCTCTCTGAAGCTCTAGGAGGGCAGAGACTGGGCTCTGGTCCCTGCTGTATCCCCAGCACCTGAAACAAGGCCTAGAACATAGCAGGCACTTAACAATACCAATTAGTTGAATAAGTAAACGATGGATGAA... | benign | 57,722 |
Classify the chromosome 2 variant at position 227089937 affecting gene COL4A4 (collagen type IV alpha 4 chain) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | CTGCCCCTCTCTCTCTTCTCTCCAGCTACAATCGATGGTGATGGCGTTTATCACCACATGACATACTGGATATTTACTTGCTGATCTGTTAGATGGTCTGTGTCCTCTCTGAAGCTCTAGGAGGGCAGAGACTGGGCTCTGGTCCCTGCTGTATCCCCAGCACCTGAAACAAGGCCTAGAACATAGCAGGCACTTAACAATACCAATTAGTTGAATAAGTAAACGATGGATGAATGGATGAGTAAATAAACTGTTTTTGCAGGCATTAGCATAATGTTTGTAGGTTCAAAACATAAATCATATATCACACAATAAATTAG... | CTGCCCCTCTCTCTCTTCTCTCCAGCTACAATCGATGGTGATGGCGTTTATCACCACATGACATACTGGATATTTACTTGCTGATCTGTTAGATGGTCTGTGTCCTCTCTGAAGCTCTAGGAGGGCAGAGACTGGGCTCTGGTCCCTGCTGTATCCCCAGCACCTGAAACAAGGCCTAGAACATAGCAGGCACTTAACAATACCAATTAGTTGAATAAGTAAACGATGGATGAATGGATGAGTAAATAAACTGTTTTTGCAGGCATTAGCATAATGTTTGTAGGTTCAAAACATAAATCATATATCACACAATAAATTAG... | pathogenic | 57,729 |
Regarding the variant at chromosome 2 and position 227094121, affecting gene COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Alport_syndrome', 'Autosomal_dominant_Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria', 'Hematuria,_benign_familial,_1'] | AAAGAGCTCCTATGAGCTTCCAGAAAGGAAAATGGATTTCAAAACCAAAAAATAAAGTATCTAAATGTTATGAGTTCTCAGTAGCCAACACTGGAAGCTAGGAAACAATAGAAAATGCCATCAAAATCCTGAGGGAGAAAGATTTCCTAACTAAAATTTTATACTCAGCCAAACTAGAAATCAAAGTCCACAGCAGAATTAAGGCATTTTCAGACAAGCAAGATCTCCCAACTTTGCCCTTTTATTTACACTTTTTCCCAGGAAATATAATGAGGTAGTAAAGCATTAAAAAATATATGGGAAATAGAGGGCCCCAGAGA... | AAAGAGCTCCTATGAGCTTCCAGAAAGGAAAATGGATTTCAAAACCAAAAAATAAAGTATCTAAATGTTATGAGTTCTCAGTAGCCAACACTGGAAGCTAGGAAACAATAGAAAATGCCATCAAAATCCTGAGGGAGAAAGATTTCCTAACTAAAATTTTATACTCAGCCAAACTAGAAATCAAAGTCCACAGCAGAATTAAGGCATTTTCAGACAAGCAAGATCTCCCAACTTTGCCCTTTTATTTACACTTTTTCCCAGGAAATATAATGAGGTAGTAAAGCATTAAAAAATATATGGGAAATAGAGGGCCCCAGAGA... | pathogenic | 57,732 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 227094149, gene COL4A4 (collagen type IV alpha 4 chain): what disease(s) if pathogenic? | pathogenic; ['Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | AAAATGGATTTCAAAACCAAAAAATAAAGTATCTAAATGTTATGAGTTCTCAGTAGCCAACACTGGAAGCTAGGAAACAATAGAAAATGCCATCAAAATCCTGAGGGAGAAAGATTTCCTAACTAAAATTTTATACTCAGCCAAACTAGAAATCAAAGTCCACAGCAGAATTAAGGCATTTTCAGACAAGCAAGATCTCCCAACTTTGCCCTTTTATTTACACTTTTTCCCAGGAAATATAATGAGGTAGTAAAGCATTAAAAAATATATGGGAAATAGAGGGCCCCAGAGAAAGAGAGAGGATGGAGGAAAGAAAGTCT... | AAAATGGATTTCAAAACCAAAAAATAAAGTATCTAAATGTTATGAGTTCTCAGTAGCCAACACTGGAAGCTAGGAAACAATAGAAAATGCCATCAAAATCCTGAGGGAGAAAGATTTCCTAACTAAAATTTTATACTCAGCCAAACTAGAAATCAAAGTCCACAGCAGAATTAAGGCATTTTCAGACAAGCAAGATCTCCCAACTTTGCCCTTTTATTTACACTTTTTCCCAGGAAATATAATGAGGTAGTAAAGCATTAAAAAATATATGGGAAATAGAGGGCCCCAGAGAAAGAGAGAGGATGGAGGAAAGAAAGTCT... | pathogenic | 57,734 |
Does the variant impacting COL4A4 (collagen type IV alpha 4 chain) on chromosome 2, position 227094153, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Alport_syndrome', 'Autosomal_recessive_Alport_syndrome', 'Benign_familial_hematuria'] | TGGATTTCAAAACCAAAAAATAAAGTATCTAAATGTTATGAGTTCTCAGTAGCCAACACTGGAAGCTAGGAAACAATAGAAAATGCCATCAAAATCCTGAGGGAGAAAGATTTCCTAACTAAAATTTTATACTCAGCCAAACTAGAAATCAAAGTCCACAGCAGAATTAAGGCATTTTCAGACAAGCAAGATCTCCCAACTTTGCCCTTTTATTTACACTTTTTCCCAGGAAATATAATGAGGTAGTAAAGCATTAAAAAATATATGGGAAATAGAGGGCCCCAGAGAAAGAGAGAGGATGGAGGAAAGAAAGTCTCAGG... | TGGATTTCAAAACCAAAAAATAAAGTATCTAAATGTTATGAGTTCTCAGTAGCCAACACTGGAAGCTAGGAAACAATAGAAAATGCCATCAAAATCCTGAGGGAGAAAGATTTCCTAACTAAAATTTTATACTCAGCCAAACTAGAAATCAAAGTCCACAGCAGAATTAAGGCATTTTCAGACAAGCAAGATCTCCCAACTTTGCCCTTTTATTTACACTTTTTCCCAGGAAATATAATGAGGTAGTAAAGCATTAAAAAATATATGGGAAATAGAGGGCCCCAGAGAAAGAGAGAGGATGGAGGAAAGAAAGTCTCAGG... | pathogenic | 57,735 |
Classify the chromosome 2 variant at position 227094258 affecting gene COL4A4 (collagen type IV alpha 4 chain) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_recessive_Alport_syndrome'] | AAAGATTTCCTAACTAAAATTTTATACTCAGCCAAACTAGAAATCAAAGTCCACAGCAGAATTAAGGCATTTTCAGACAAGCAAGATCTCCCAACTTTGCCCTTTTATTTACACTTTTTCCCAGGAAATATAATGAGGTAGTAAAGCATTAAAAAATATATGGGAAATAGAGGGCCCCAGAGAAAGAGAGAGGATGGAGGAAAGAAAGTCTCAGGATATTGGTAAAGGAAGATCTCAAGACAGTATTCTGGCAACAAATTAAAAAATGCAACCTGACCTAATCTGAACAACTCAAAAAGCTGCAGGAGAGATTTATTCAA... | AAAGATTTCCTAACTAAAATTTTATACTCAGCCAAACTAGAAATCAAAGTCCACAGCAGAATTAAGGCATTTTCAGACAAGCAAGATCTCCCAACTTTGCCCTTTTATTTACACTTTTTCCCAGGAAATATAATGAGGTAGTAAAGCATTAAAAAATATATGGGAAATAGAGGGCCCCAGAGAAAGAGAGAGGATGGAGGAAAGAAAGTCTCAGGATATTGGTAAAGGAAGATCTCAAGACAGTATTCTGGCAACAAATTAAAAAATGCAACCTGACCTAATCTGAACAACTCAAAAAGCTGCAGGAGAGATTTATTCAA... | pathogenic | 57,740 |
The mutation impacting COL4A4 (collagen type IV alpha 4 chain) on chromosome 2 at position 227098728: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | AGAAAACTGATGTACAGAGAGGTTTAATAAATGTCCAAGATCACACAGCTTGCAAGTAGGAGAAATTGGAACTTTTCTAGTTCATAGTGCAAATGCATTAAGTATTTCACTGTACCACATTATACTATATGGCTTTCACTAAATGCTAAGGTGGGATTTGATTACAAGTGTCTGACTCTGAAACTGTGCTTATCTCATGGTAAATACTGTAGATAATTACCAAATTATCTACAAGATATTCTATACGTTGTATATATAGTAAATACCATAGATATTAACAATAATATCTATCATATCTACAAATTATATATACAAGTATA... | AGAAAACTGATGTACAGAGAGGTTTAATAAATGTCCAAGATCACACAGCTTGCAAGTAGGAGAAATTGGAACTTTTCTAGTTCATAGTGCAAATGCATTAAGTATTTCACTGTACCACATTATACTATATGGCTTTCACTAAATGCTAAGGTGGGATTTGATTACAAGTGTCTGACTCTGAAACTGTGCTTATCTCATGGTAAATACTGTAGATAATTACCAAATTATCTACAAGATATTCTATACGTTGTATATATAGTAAATACCATAGATATTAACAATAATATCTATCATATCTACAAATTATATATACAAGTATA... | pathogenic | 57,744 |
Evaluate this variant at chromosome 2, position 227098809, gene COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TCATAGTGCAAATGCATTAAGTATTTCACTGTACCACATTATACTATATGGCTTTCACTAAATGCTAAGGTGGGATTTGATTACAAGTGTCTGACTCTGAAACTGTGCTTATCTCATGGTAAATACTGTAGATAATTACCAAATTATCTACAAGATATTCTATACGTTGTATATATAGTAAATACCATAGATATTAACAATAATATCTATCATATCTACAAATTATATATACAAGTATATAATAGGACTAGATACACTCCTGTGCTTAGAACAAAATGAAAATGAGCTCCTGTGGATTTGGCTGCCATCTTGTCTTCATG... | TCATAGTGCAAATGCATTAAGTATTTCACTGTACCACATTATACTATATGGCTTTCACTAAATGCTAAGGTGGGATTTGATTACAAGTGTCTGACTCTGAAACTGTGCTTATCTCATGGTAAATACTGTAGATAATTACCAAATTATCTACAAGATATTCTATACGTTGTATATATAGTAAATACCATAGATATTAACAATAATATCTATCATATCTACAAATTATATATACAAGTATATAATAGGACTAGATACACTCCTGTGCTTAGAACAAAATGAAAATGAGCTCCTGTGGATTTGGCTGCCATCTTGTCTTCATG... | benign | 57,746 |
Assess the variant on chromosome 2, position 227101582, impacting COL4A4 (collagen type IV alpha 4 chain): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GGAAATACTGGGCCAGACTCTTCTGTCCTGGCCACTCAACTCCTATTTCTGCATAATTTATGGAGGAACTGAATAGGAACACAAACCTTTGAGTGGAAGAGGTGGAGTCACCAAAACACCTGGTGGTCCTGGGTGCCCTCGATTTCCAGGATCCCCCTGAAATCATTCATTCATTCACTTTTTAAAGGAATATTAATTTTACTCATGTTGCCTGGCATTAAACCAGTATTAGAACGATCATGTGCACATTCATATAAGAAGCAGAGATTATAGGCTGACTAGAGAAATGAAGCATCCATGGAGTCTTAGGAGCAGCAAAG... | GGAAATACTGGGCCAGACTCTTCTGTCCTGGCCACTCAACTCCTATTTCTGCATAATTTATGGAGGAACTGAATAGGAACACAAACCTTTGAGTGGAAGAGGTGGAGTCACCAAAACACCTGGTGGTCCTGGGTGCCCTCGATTTCCAGGATCCCCCTGAAATCATTCATTCATTCACTTTTTAAAGGAATATTAATTTTACTCATGTTGCCTGGCATTAAACCAGTATTAGAACGATCATGTGCACATTCATATAAGAAGCAGAGATTATAGGCTGACTAGAGAAATGAAGCATCCATGGAGTCTTAGGAGCAGCAAAG... | benign | 57,757 |
Variant at chromosome position 227102759, chromosome 2, gene COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_recessive_Alport_syndrome'] | TCATCTTGAATGGTAACTCCTACAATTCCCACCTGTTGTGGAAGGAACCCAGTGGGAGGTGATTGAATTATGGGGGGTGGGTCTTTCCTGCGCTATTCTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCG... | TCATCTTGAATGGTAACTCCTACAATTCCCACCTGTTGTGGAAGGAACCCAGTGGGAGGTGATTGAATTATGGGGGGTGGGTCTTTCCTGCGCTATTCTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCG... | pathogenic | 57,763 |
The chromosome 2, position 227102885 genetic variant in gene COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCAGCCTTTCCTGTGCTATTCTTGTGATAGTGAATGAGTCTCACAAGATAATGGT... | CTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCAGCCTTTCCTGTGCTATTCTTGTGATAGTGAATGAGTCTCACAAGATAATGGT... | benign | 57,768 |
A genetic variant at chromosome 2, position 227103114, affecting gene COL4A4 (collagen type IV alpha 4 chain)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCAGCCTTTCCTGTGCTATTCTTGTGATAGTGAATGAGTCTCACAAGATAATGGTTTTAAAAAATAGGAGTTTCCCTGTACAAACTCTCTCTTTGCCTGCTGCCATCCATGTAAGACGTGACTTGCTCCTTCTTGCCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTGGAACTGTAAGTCCATTTAACCTCTTTCTTTTGTAAATTGTCCAGTCTTGGATATGTCTTTATCAGCAACATGAAAAACAGACTAATGTAACAATTGAATAAAAAATTAACTG... | CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCAGCCTTTCCTGTGCTATTCTTGTGATAGTGAATGAGTCTCACAAGATAATGGTTTTAAAAAATAGGAGTTTCCCTGTACAAACTCTCTCTTTGCCTGCTGCCATCCATGTAAGACGTGACTTGCTCCTTCTTGCCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTGGAACTGTAAGTCCATTTAACCTCTTTCTTTTGTAAATTGTCCAGTCTTGGATATGTCTTTATCAGCAACATGAAAAACAGACTAATGTAACAATTGAATAAAAAATTAACTG... | benign | 57,770 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 227108845, gene COL4A4 (collagen type IV alpha 4 chain). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | CTGAGGTGATCCACCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGGGCCTGGCCCAAAATTGTAAAATTATGTGTTCATTCACCTGACAATCTAAAAGAATTAAGGTAAGCACATTTGAGATCATTTGAATGGCCACCTCATAGCCAAATACTTCCAAGTTATTCCACAGCCTGAGTTTGCAAATGTGTCTGATTGGACTGGCGCGGAAAGTCACTAAGATGCCAATGCTTGCTGGATTCTGCAATGGCACACGGGCTCCTGTGGCTTCGACGAACATATTCCAGAGCTCCATGGCTTCCCAAAC... | CTGAGGTGATCCACCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGGGCCTGGCCCAAAATTGTAAAATTATGTGTTCATTCACCTGACAATCTAAAAGAATTAAGGTAAGCACATTTGAGATCATTTGAATGGCCACCTCATAGCCAAATACTTCCAAGTTATTCCACAGCCTGAGTTTGCAAATGTGTCTGATTGGACTGGCGCGGAAAGTCACTAAGATGCCAATGCTTGCTGGATTCTGCAATGGCACACGGGCTCCTGTGGCTTCGACGAACATATTCCAGAGCTCCATGGCTTCCCAAAC... | pathogenic | 57,784 |
Variant on chromosome 2, at position 227108850, affecting COL4A4 (collagen type IV alpha 4 chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | GTGATCCACCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGGGCCTGGCCCAAAATTGTAAAATTATGTGTTCATTCACCTGACAATCTAAAAGAATTAAGGTAAGCACATTTGAGATCATTTGAATGGCCACCTCATAGCCAAATACTTCCAAGTTATTCCACAGCCTGAGTTTGCAAATGTGTCTGATTGGACTGGCGCGGAAAGTCACTAAGATGCCAATGCTTGCTGGATTCTGCAATGGCACACGGGCTCCTGTGGCTTCGACGAACATATTCCAGAGCTCCATGGCTTCCCAAACTTGAA... | GTGATCCACCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGGGCCTGGCCCAAAATTGTAAAATTATGTGTTCATTCACCTGACAATCTAAAAGAATTAAGGTAAGCACATTTGAGATCATTTGAATGGCCACCTCATAGCCAAATACTTCCAAGTTATTCCACAGCCTGAGTTTGCAAATGTGTCTGATTGGACTGGCGCGGAAAGTCACTAAGATGCCAATGCTTGCTGGATTCTGCAATGGCACACGGGCTCCTGTGGCTTCGACGAACATATTCCAGAGCTCCATGGCTTCCCAAACTTGAA... | pathogenic | 57,785 |
The chromosome 2, position 227108859 genetic variant in gene COL4A4 (collagen type IV alpha 4 chain): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | CCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGGGCCTGGCCCAAAATTGTAAAATTATGTGTTCATTCACCTGACAATCTAAAAGAATTAAGGTAAGCACATTTGAGATCATTTGAATGGCCACCTCATAGCCAAATACTTCCAAGTTATTCCACAGCCTGAGTTTGCAAATGTGTCTGATTGGACTGGCGCGGAAAGTCACTAAGATGCCAATGCTTGCTGGATTCTGCAATGGCACACGGGCTCCTGTGGCTTCGACGAACATATTCCAGAGCTCCATGGCTTCCCAAACTTGAAAAACATTGT... | CCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGGGCCTGGCCCAAAATTGTAAAATTATGTGTTCATTCACCTGACAATCTAAAAGAATTAAGGTAAGCACATTTGAGATCATTTGAATGGCCACCTCATAGCCAAATACTTCCAAGTTATTCCACAGCCTGAGTTTGCAAATGTGTCTGATTGGACTGGCGCGGAAAGTCACTAAGATGCCAATGCTTGCTGGATTCTGCAATGGCACACGGGCTCCTGTGGCTTCGACGAACATATTCCAGAGCTCCATGGCTTCCCAAACTTGAAAAACATTGT... | pathogenic | 57,786 |
Variant on chromosome 2, at position 227121008, affecting COL4A4 (collagen type IV alpha 4 chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_Alport_syndrome', 'Hematuria,_benign_familial,_1'] | ACTAATTTAGTTTGCAGTACTCTGGGAAATTGAGGAGGGGACCTTCCTTAAAATCCTTAGAAATACTATAATGAATTATAAAGCCCCCACATACCTCTTTTTTTTTTTCCATTCCATTTTCATATGAGAAATGGGAGTATTAAGCTCACTACAAATATTAGGACTCATCAGCAAATAAAAACATTCCTTATGAGTATGCATTAATTTCAAGAACATTGTACTTGACATAACAAGTATACCTAGCTCATATTTTGGAATTTTTTCTCTAACCTGTTAGAAAACGTTGCTTTCCAAGTAAAGTGTTTTGCTCTGGGAGTTAT... | ACTAATTTAGTTTGCAGTACTCTGGGAAATTGAGGAGGGGACCTTCCTTAAAATCCTTAGAAATACTATAATGAATTATAAAGCCCCCACATACCTCTTTTTTTTTTTCCATTCCATTTTCATATGAGAAATGGGAGTATTAAGCTCACTACAAATATTAGGACTCATCAGCAAATAAAAACATTCCTTATGAGTATGCATTAATTTCAAGAACATTGTACTTGACATAACAAGTATACCTAGCTCATATTTTGGAATTTTTTCTCTAACCTGTTAGAAAACGTTGCTTTCCAAGTAAAGTGTTTTGCTCTGGGAGTTAT... | pathogenic | 57,827 |
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