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 |
|---|---|---|---|---|---|
Mutation found at chromosome 21 position 45477930, gene COL18A1 (collagen type XVIII alpha 1 chain): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Knobloch_syndrome', 'Knobloch_syndrome_1'] | TGTGAGCCTGACGACCAGGAGGAGAAGGCGGCGCAGGGAGCGCGCGGAAGGCTTTCCCCAGCTCGGGCCACCTGAGAAAACACAGGAGGGGCGGGGAGTGGGGAGGCCCCAGCCGCGGGACTGAGGCGCGGTGCTGTCCGTGAGAGACGGGTGCGGGAACGTGTTCCCTGCGGGGACCCTCTGCAGATTCACATCAGCTTCCCAGCATGGCCTGTCGGGCGCCGGGAGGCCTCTGTGGTGACGGCAGGCGCGGTCCTGGGTCCTGGGGAGCCGGGGAGCCCACAGGCGGCCACACCCCTGCGGCCCACGGAAGGAAGCCC... | TGTGAGCCTGACGACCAGGAGGAGAAGGCGGCGCAGGGAGCGCGCGGAAGGCTTTCCCCAGCTCGGGCCACCTGAGAAAACACAGGAGGGGCGGGGAGTGGGGAGGCCCCAGCCGCGGGACTGAGGCGCGGTGCTGTCCGTGAGAGACGGGTGCGGGAACGTGTTCCCTGCGGGGACCCTCTGCAGATTCACATCAGCTTCCCAGCATGGCCTGTCGGGCGCCGGGAGGCCTCTGTGGTGACGGCAGGCGCGGTCCTGGGTCCTGGGGAGCCGGGGAGCCCACAGGCGGCCACACCCCTGCGGCCCACGGAAGGAAGCCC... | pathogenic | 320,331 |
Gene mutation in COL18A1 (collagen type XVIII alpha 1 chain) at chromosome 21, position 45477979—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GGCTTTCCCCAGCTCGGGCCACCTGAGAAAACACAGGAGGGGCGGGGAGTGGGGAGGCCCCAGCCGCGGGACTGAGGCGCGGTGCTGTCCGTGAGAGACGGGTGCGGGAACGTGTTCCCTGCGGGGACCCTCTGCAGATTCACATCAGCTTCCCAGCATGGCCTGTCGGGCGCCGGGAGGCCTCTGTGGTGACGGCAGGCGCGGTCCTGGGTCCTGGGGAGCCGGGGAGCCCACAGGCGGCCACACCCCTGCGGCCCACGGAAGGAAGCCCCTCGCGCACGGCCCTGGAGCACCCTCCTGTTTCAGAGGATTTTTCTTTA... | GGCTTTCCCCAGCTCGGGCCACCTGAGAAAACACAGGAGGGGCGGGGAGTGGGGAGGCCCCAGCCGCGGGACTGAGGCGCGGTGCTGTCCGTGAGAGACGGGTGCGGGAACGTGTTCCCTGCGGGGACCCTCTGCAGATTCACATCAGCTTCCCAGCATGGCCTGTCGGGCGCCGGGAGGCCTCTGTGGTGACGGCAGGCGCGGTCCTGGGTCCTGGGGAGCCGGGGAGCCCACAGGCGGCCACACCCCTGCGGCCCACGGAAGGAAGCCCCTCGCGCACGGCCCTGGAGCACCCTCCTGTTTCAGAGGATTTTTCTTTA... | benign | 320,333 |
Evaluate if the mutation on chromosome 21 at position 45479923 in COL18A1 (collagen type XVIII alpha 1 chain) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Knobloch_syndrome_1'] | TGCAGGCCCAGCGTTGCAAACTGTCCCCGGACCACAAGGACCCCCAGGGCCTCCGGGGAGGGACGGCACCCCTGGAAGGGACGGCGAGCCGGTGAGTCCTCACGTCCCCCCGAGTCCGGCCCGGTCTGGAGGGTGGGGGCTTGGGTAGGAGGGGGAGAGGCTGCGGCCGACATGGGAGTGAGCTGAGCTGGGATCGGGGCAGGTCAGCAGCCTCCTTAGGCCCACCGTTGCTCGGGGTTGGTGCTGGAAGGTGGTCAGACGTGGGAGGCGGAGCTGCTCAGACACAGCCCTTGTGGGTGTGAGGAGGCTCCTGGCGCGGG... | TGCAGGCCCAGCGTTGCAAACTGTCCCCGGACCACAAGGACCCCCAGGGCCTCCGGGGAGGGACGGCACCCCTGGAAGGGACGGCGAGCCGGTGAGTCCTCACGTCCCCCCGAGTCCGGCCCGGTCTGGAGGGTGGGGGCTTGGGTAGGAGGGGGAGAGGCTGCGGCCGACATGGGAGTGAGCTGAGCTGGGATCGGGGCAGGTCAGCAGCCTCCTTAGGCCCACCGTTGCTCGGGGTTGGTGCTGGAAGGTGGTCAGACGTGGGAGGCGGAGCTGCTCAGACACAGCCCTTGTGGGTGTGAGGAGGCTCCTGGCGCGGG... | pathogenic | 320,339 |
Clinical significance of chromosome 21, position 45480834, gene COL18A1 (collagen type XVIII alpha 1 chain): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | AGTAATGACGTGATCGACTGCGAATAAAGACCTGGGAACAGCCTGCCCAGCAAATGGTAACACTCGGCAGAAAGTGGGGCCGTCACGAACGCTGGACAGGAGGGTTCAAGTTAAAAACAGTCTAGAAGGTCTGAAAGGACAGGGAGGGCATCTCATGGTGCCCACCGAACGGTCATTACCGACCGCCTGGCACCCCACAGCCAAGCTGCCTGCGATGAGGACCACGGCAGACAAAGGACAGTCGGCTGGGGGGCGGCACGGGGCCCACCCACTGCAACAGGGTACACGCACGCGTGTGAGTGTGGGGTGATGATCCACGG... | AGTAATGACGTGATCGACTGCGAATAAAGACCTGGGAACAGCCTGCCCAGCAAATGGTAACACTCGGCAGAAAGTGGGGCCGTCACGAACGCTGGACAGGAGGGTTCAAGTTAAAAACAGTCTAGAAGGTCTGAAAGGACAGGGAGGGCATCTCATGGTGCCCACCGAACGGTCATTACCGACCGCCTGGCACCCCACAGCCAAGCTGCCTGCGATGAGGACCACGGCAGACAAAGGACAGTCGGCTGGGGGGCGGCACGGGGCCCACCCACTGCAACAGGGTACACGCACGCGTGTGAGTGTGGGGTGATGATCCACGG... | pathogenic | 320,357 |
Assess the variant on chromosome 21, position 45488455, impacting COL18A1 (collagen type XVIII alpha 1 chain): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTCTCTTTTCCCCTCGCCTGCCCGGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTCTCTTCTCCCCTTGCCTGCCCGGGAGCCAGGGCTGGAGGTAACGAGGGTGCCCTGTGCACCTCCCGCTGTGCATGTGGGCCTCCCCCTGTGCATGTGGGCCCAACCCCGACCAAGTTCGGGCTCCGTGGCTCTCTCCTCAGTTGTGTTTCTGTGTGGCTGAAATCGTGTCGTAAAGTTAGAAGAAAGGCTGCTGTGGGGCCTGCG... | GAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTCTCTTTTCCCCTCGCCTGCCCGGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTCTCTTCTCCCCTTGCCTGCCCGGGAGCCAGGGCTGGAGGTAACGAGGGTGCCCTGTGCACCTCCCGCTGTGCATGTGGGCCTCCCCCTGTGCATGTGGGCCCAACCCCGACCAAGTTCGGGCTCCGTGGCTCTCTCCTCAGTTGTGTTTCTGTGTGGCTGAAATCGTGTCGTAAAGTTAGAAGAAAGGCTGCTGTGGGGCCTGCG... | benign | 320,379 |
A genetic variant on chromosome 21, position 45491268, affects the gene COL18A1 (collagen type XVIII alpha 1 chain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['COL18A1-related_disorder', 'Knobloch_syndrome'] | CGGGGTTCCTCTTGCAGTCTGCAGTCCTAGTGATGGAATATGTCCCCAGGTTCCGCAGCCGTCCCGGCCGGGTGCCTTCAGCCAGCCTGGGCCCACGGGGTCCCTGCACAAGTTGCTCAGTGTCCCTGGGACCCCTCGGCTCTGGGCTGGGGGAGGGCGGTGAGATGCATCCTGGGTAACTCACCCTTCCCTTCACCCGGGGTGGACGCTGCCTGAGGACTGGGCTGGCCCCAGCAGGTGCTCACGGAGCCCCTTTTTTCACTTAGGGGGATCCTGGCGTGCCTGGGCTGCCGGGGGCGAAGGTAAGCGCTGTGCCCGGG... | CGGGGTTCCTCTTGCAGTCTGCAGTCCTAGTGATGGAATATGTCCCCAGGTTCCGCAGCCGTCCCGGCCGGGTGCCTTCAGCCAGCCTGGGCCCACGGGGTCCCTGCACAAGTTGCTCAGTGTCCCTGGGACCCCTCGGCTCTGGGCTGGGGGAGGGCGGTGAGATGCATCCTGGGTAACTCACCCTTCCCTTCACCCGGGGTGGACGCTGCCTGAGGACTGGGCTGGCCCCAGCAGGTGCTCACGGAGCCCCTTTTTTCACTTAGGGGGATCCTGGCGTGCCTGGGCTGCCGGGGGCGAAGGTAAGCGCTGTGCCCGGG... | pathogenic | 320,403 |
Is the genetic mutation found on chromosome 21 at position 45491385, within the gene COL18A1 (collagen type XVIII alpha 1 chain), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CAGTGTCCCTGGGACCCCTCGGCTCTGGGCTGGGGGAGGGCGGTGAGATGCATCCTGGGTAACTCACCCTTCCCTTCACCCGGGGTGGACGCTGCCTGAGGACTGGGCTGGCCCCAGCAGGTGCTCACGGAGCCCCTTTTTTCACTTAGGGGGATCCTGGCGTGCCTGGGCTGCCGGGGGCGAAGGTAAGCGCTGTGCCCGGGTTCAGGGACGTGGCCAGGCAGAGGCAGGGAGGGCCCAGCCGGACACCTGCGGAGATCAGCTCGGGGCGGCCTTCCCCGCTCTTCCTGCCACTGCTTTGTTTCTTTATAATTGAAGAC... | CAGTGTCCCTGGGACCCCTCGGCTCTGGGCTGGGGGAGGGCGGTGAGATGCATCCTGGGTAACTCACCCTTCCCTTCACCCGGGGTGGACGCTGCCTGAGGACTGGGCTGGCCCCAGCAGGTGCTCACGGAGCCCCTTTTTTCACTTAGGGGGATCCTGGCGTGCCTGGGCTGCCGGGGGCGAAGGTAAGCGCTGTGCCCGGGTTCAGGGACGTGGCCAGGCAGAGGCAGGGAGGGCCCAGCCGGACACCTGCGGAGATCAGCTCGGGGCGGCCTTCCCCGCTCTTCCTGCCACTGCTTTGTTTCTTTATAATTGAAGAC... | benign | 320,409 |
Does the variant on chromosome 21 at location 45492744 affecting gene COL18A1 (collagen type XVIII alpha 1 chain) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CTCTTGGTGGCTGCCTCCCTCCCAGGCCCCAGCCGGTCGGGAAATAAAGAACCCCACATCTTCATCAGAGCCATCCCTCACGGGGGGCCAGGGGCTCCTGTTTCTGTTGGTGATGAACCATTTCCTTCCTGTCTCTCCAGGGGCCAAAGGGAGACAGAGGCAGCCGGGGAGAAAAGGTGAGTGTCCCTGGGGCGGGTGGATGGGGATGGGGGGCGCTGGGACATCCCAGAAGGTTTGGCCTCAGCTGCCCCAGGTCCGTGCCCCTGCTGCCCATGTGACCTCAGAGACTCAGGGCAAAGACCCTCAAGTTGACAGGGGTG... | CTCTTGGTGGCTGCCTCCCTCCCAGGCCCCAGCCGGTCGGGAAATAAAGAACCCCACATCTTCATCAGAGCCATCCCTCACGGGGGGCCAGGGGCTCCTGTTTCTGTTGGTGATGAACCATTTCCTTCCTGTCTCTCCAGGGGCCAAAGGGAGACAGAGGCAGCCGGGGAGAAAAGGTGAGTGTCCCTGGGGCGGGTGGATGGGGATGGGGGGCGCTGGGACATCCCAGAAGGTTTGGCCTCAGCTGCCCCAGGTCCGTGCCCCTGCTGCCCATGTGACCTCAGAGACTCAGGGCAAAGACCCTCAAGTTGACAGGGGTG... | benign | 320,414 |
Is the variant located on chromosome 21 at position 45496602, gene COL18A1 (collagen type XVIII alpha 1 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GGCTTCCGAGGACCCCCGGTAAGTCGGTCCCTGGCTTTCTCTGCACTGAGCTCGGGCATGACGGCCCCCAAGGACACGGTCGCCCGCGGCTGCTGAGCTTGTGCTGTGCGGCCCAGGGCTCATCTCCCTAGTGCAGTTTTAAAGCGTGTGGGGCAGGTGTCGGCGTGAGGCTGCAGTGGGCTCCTCCGAGCTGATGGGTGGCCCAGGGTGCTGTGCTCTGCATGGCCCCTCCCCTTCCCCAGGACCCCCCAACTCGTGGTCAAGGGCCAGGGTCTGCCCCACTAAGCCTGGCCCCCTTCCTCTTGCAGGGTCCATACGGA... | GGCTTCCGAGGACCCCCGGTAAGTCGGTCCCTGGCTTTCTCTGCACTGAGCTCGGGCATGACGGCCCCCAAGGACACGGTCGCCCGCGGCTGCTGAGCTTGTGCTGTGCGGCCCAGGGCTCATCTCCCTAGTGCAGTTTTAAAGCGTGTGGGGCAGGTGTCGGCGTGAGGCTGCAGTGGGCTCCTCCGAGCTGATGGGTGGCCCAGGGTGCTGTGCTCTGCATGGCCCCTCCCCTTCCCCAGGACCCCCCAACTCGTGGTCAAGGGCCAGGGTCTGCCCCACTAAGCCTGGCCCCCTTCCTCTTGCAGGGTCCATACGGA... | benign | 320,438 |
Chromosome 21, position 45497644, gene COL18A1 (collagen type XVIII alpha 1 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Knobloch_syndrome', 'Knobloch_syndrome_1'] | ATGTCCACACACGCACACGTGTGCCCAAACATGCATGCACATATATGGCCGTACTCATACATGTGTGCACATATACACATGCATCTATGCACATACATGCCCATACACACGCGCACACATACACGCACACACACATCCACACGTGCTCATGTGTGTACACATGCCCATACACTCCACATAGGTGCACATATACACATGTATTCATGCATATACGAGCCTGTCCACGTGCACACCCATACAGGTATATACATACACTCATACATGTGCACGTATCCACATGTGTATCCACATACATGACTATGAGCCCTCCCTGGCCCATT... | ATGTCCACACACGCACACGTGTGCCCAAACATGCATGCACATATATGGCCGTACTCATACATGTGTGCACATATACACATGCATCTATGCACATACATGCCCATACACACGCGCACACATACACGCACACACACATCCACACGTGCTCATGTGTGTACACATGCCCATACACTCCACATAGGTGCACATATACACATGTATTCATGCATATACGAGCCTGTCCACGTGCACACCCATACAGGTATATACATACACTCATACATGTGCACGTATCCACATGTGTATCCACATACATGACTATGAGCCCTCCCTGGCCCATT... | pathogenic | 320,440 |
Variant in COL18A1 (collagen type XVIII alpha 1 chain), chromosome 21, position 45497644—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Knobloch_syndrome'] | ATGTCCACACACGCACACGTGTGCCCAAACATGCATGCACATATATGGCCGTACTCATACATGTGTGCACATATACACATGCATCTATGCACATACATGCCCATACACACGCGCACACATACACGCACACACACATCCACACGTGCTCATGTGTGTACACATGCCCATACACTCCACATAGGTGCACATATACACATGTATTCATGCATATACGAGCCTGTCCACGTGCACACCCATACAGGTATATACATACACTCATACATGTGCACGTATCCACATGTGTATCCACATACATGACTATGAGCCCTCCCTGGCCCATT... | ATGTCCACACACGCACACGTGTGCCCAAACATGCATGCACATATATGGCCGTACTCATACATGTGTGCACATATACACATGCATCTATGCACATACATGCCCATACACACGCGCACACATACACGCACACACACATCCACACGTGCTCATGTGTGTACACATGCCCATACACTCCACATAGGTGCACATATACACATGTATTCATGCATATACGAGCCTGTCCACGTGCACACCCATACAGGTATATACATACACTCATACATGTGCACGTATCCACATGTGTATCCACATACATGACTATGAGCCCTCCCTGGCCCATT... | pathogenic | 320,441 |
Is the genetic variant on chromosome 21, position 45503996, gene SLC19A1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCCGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCGGAGCAGGGCCCAGCCCGAGAGGGAGCACGGGTCCTGACAGCAGCAGTGACCTCCAACCCCAGGGACGGCTCCTGTGGGATGGGGGGCCCTGGGGGTGTGGAGCCACGTGCTCCAAAGCTTCTGGGTTACAGGGCATGCCTCCAGGG... | CAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCCGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCGGAGCAGGGCCCAGCCCGAGAGGGAGCACGGGTCCTGACAGCAGCAGTGACCTCCAACCCCAGGGACGGCTCCTGTGGGATGGGGGGCCCTGGGGGTGTGGAGCCACGTGCTCCAAAGCTTCTGGGTTACAGGGCATGCCTCCAGGG... | benign | 320,445 |
Regarding the variant at chromosome 21 and position 45504028, affecting gene SLC19A1: benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCCGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCGGAGCAGGGCCCAGCCCGAGAGGGAGCACGGGTCCTGACAGCAGCAGTGACCTCCAACCCCAGGGACGGCTCCTGTGGGATGGGGGGCCCTGGGGGTGTGGAGCCACGTGCTCCAAAGCTTCTGGGTTACAGGGCATGCCTCCAGGGGTGAGGTGGTCCCCACCCCGGTCACGGTTTCA... | CAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCCGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCGGAGCAGGGCCCAGCCCGAGAGGGAGCACGGGTCCTGACAGCAGCAGTGACCTCCAACCCCAGGGACGGCTCCTGTGGGATGGGGGGCCCTGGGGGTGTGGAGCCACGTGCTCCAAAGCTTCTGGGTTACAGGGCATGCCTCCAGGGGTGAGGTGGTCCCCACCCCGGTCACGGTTTCA... | benign | 320,448 |
Gene SLC19A1 variant at chromosome 21, position 45504511—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | AAACAGTTATTTGATGAAAATAGATGGGAAGAAGTATTAAACATCAAAAATGAGTGAAGAGAAATTGCGTATGTTTTATATATAAAAATAGCAAGGATCAAGAAAGTCCAAAAATCCAAAGTTAATTCTTTGCAAAGGCGAACAACATTCCTGCACCTCTGCCGGGACTGAGGAAAAGGAGAGAAGCAGCAACAAGCAGGGATTTCAGCAAAGGGCTCCTCCGTGGTCTGGAAGGAGCCACCTGGAACTGCCACAGCTTCACCCTTGGAGAGGGTGGAGGGACCCTCAAGTCAGGGCCAAGACACAGCTGCCTGCCCACC... | AAACAGTTATTTGATGAAAATAGATGGGAAGAAGTATTAAACATCAAAAATGAGTGAAGAGAAATTGCGTATGTTTTATATATAAAAATAGCAAGGATCAAGAAAGTCCAAAAATCCAAAGTTAATTCTTTGCAAAGGCGAACAACATTCCTGCACCTCTGCCGGGACTGAGGAAAAGGAGAGAAGCAGCAACAAGCAGGGATTTCAGCAAAGGGCTCCTCCGTGGTCTGGAAGGAGCCACCTGGAACTGCCACAGCTTCACCCTTGGAGAGGGTGGAGGGACCCTCAAGTCAGGGCCAAGACACAGCTGCCTGCCCACC... | benign | 320,460 |
Regarding the variant at chromosome 21 and position 45504511, affecting gene SLC19A1: benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AAACAGTTATTTGATGAAAATAGATGGGAAGAAGTATTAAACATCAAAAATGAGTGAAGAGAAATTGCGTATGTTTTATATATAAAAATAGCAAGGATCAAGAAAGTCCAAAAATCCAAAGTTAATTCTTTGCAAAGGCGAACAACATTCCTGCACCTCTGCCGGGACTGAGGAAAAGGAGAGAAGCAGCAACAAGCAGGGATTTCAGCAAAGGGCTCCTCCGTGGTCTGGAAGGAGCCACCTGGAACTGCCACAGCTTCACCCTTGGAGAGGGTGGAGGGACCCTCAAGTCAGGGCCAAGACACAGCTGCCTGCCCACC... | AAACAGTTATTTGATGAAAATAGATGGGAAGAAGTATTAAACATCAAAAATGAGTGAAGAGAAATTGCGTATGTTTTATATATAAAAATAGCAAGGATCAAGAAAGTCCAAAAATCCAAAGTTAATTCTTTGCAAAGGCGAACAACATTCCTGCACCTCTGCCGGGACTGAGGAAAAGGAGAGAAGCAGCAACAAGCAGGGATTTCAGCAAAGGGCTCCTCCGTGGTCTGGAAGGAGCCACCTGGAACTGCCACAGCTTCACCCTTGGAGAGGGTGGAGGGACCCTCAAGTCAGGGCCAAGACACAGCTGCCTGCCCACC... | benign | 320,461 |
Evaluate this variant at chromosome 21, position 45505235, gene SLC19A1: benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | ACAGTGTAAAAGTGTTCCTATTTCTCTACATCCTCTCCGGCACCTGTTGTTTCCTTACTTTTTAACGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAA... | ACAGTGTAAAAGTGTTCCTATTTCTCTACATCCTCTCCGGCACCTGTTGTTTCCTTACTTTTTAACGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAA... | benign | 320,470 |
Clinical classification of chromosome 21, position 45505235, gene SLC19A1: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Knobloch_syndrome'] | ACAGTGTAAAAGTGTTCCTATTTCTCTACATCCTCTCCGGCACCTGTTGTTTCCTTACTTTTTAACGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAA... | ACAGTGTAAAAGTGTTCCTATTTCTCTACATCCTCTCCGGCACCTGTTGTTTCCTTACTTTTTAACGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAA... | pathogenic | 320,472 |
Does the variant impacting SLC19A1 on chromosome 21, position 45505371, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | GATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTG... | GATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTG... | pathogenic | 320,479 |
Located at chromosome 21 position 45505379, the variant affecting gene SLC19A1—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Knobloch_syndrome_1'] | GCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGG... | GCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGG... | pathogenic | 320,480 |
Variant chromosome 21, position 45509608, gene SLC19A1: benign or pathogenic? Disease(s)? | benign | GCTGGAGGCCCGGACACCACTCCCACGAGGGACGGTAAGGAGCCTTTTTTCTGTTGAGACTGGTGGGTGGTCAGGACATGAGGGGGTATGTGCTGTCCCCTGTTTGAGGAACAACACGTGGTCCTTTGGAGTCCTGGAGCTGAACATGTGGCTCACCATCAGCCCCTGCTGCAGAAACTGGTGCAGGACACCCCACTACCTCTGTCTCAGCGCTGGCCCCCCAGTACCTCCGTCTCAGCTGCTGGCCTCACGAGGGAGCCCCTCTCATCCCTCAACTTTCCCAGTTGTGTCTGCCGCTCATTGCCCTCCTCAAGGTCAAA... | GCTGGAGGCCCGGACACCACTCCCACGAGGGACGGTAAGGAGCCTTTTTTCTGTTGAGACTGGTGGGTGGTCAGGACATGAGGGGGTATGTGCTGTCCCCTGTTTGAGGAACAACACGTGGTCCTTTGGAGTCCTGGAGCTGAACATGTGGCTCACCATCAGCCCCTGCTGCAGAAACTGGTGCAGGACACCCCACTACCTCTGTCTCAGCGCTGGCCCCCCAGTACCTCCGTCTCAGCTGCTGGCCTCACGAGGGAGCCCCTCTCATCCCTCAACTTTCCCAGTTGTGTCTGCCGCTCATTGCCCTCCTCAAGGTCAAA... | benign | 320,506 |
Clinical impact (benign or pathogenic) of the variant at chromosome 21, location 45510090, gene SLC19A1: what disease(s) if pathogenic? | pathogenic; ['Hereditary_glaucoma,_primary_closed-angle', 'Knobloch_syndrome', 'Knobloch_syndrome_1', 'Macular_dystrophy', 'Retinal_dystrophy', 'Retinitis_pigmentosa'] | TAGGTAGATGGGGAGGTGGATGGATGAGTAGATGGTGGACAGGTGGGTGAGTGGATGGATGGTGGTCAGGCGGGTGAGTGGACGGGTGGGTGGGTGGATGGAAAGGTGGGTGAGTGGATAGGTAGGTAGCTGGGGAGATGGATGGATGGTGGACAGGTGGGTGAGTGTATGAATGGGTGGGTGGATAGTGGGTAAGTGGGTGAGTGGATGGTGGACAGGTGGGTGAGTGGATGGGTAGGTAGATGGGGAGGTGGATGGGTGGTTGCTGGACAGGTGGGTGAGTGGATAGATGGGCAGATGGATGGTGGACAAGTGGGTGA... | TAGGTAGATGGGGAGGTGGATGGATGAGTAGATGGTGGACAGGTGGGTGAGTGGATGGATGGTGGTCAGGCGGGTGAGTGGACGGGTGGGTGGGTGGATGGAAAGGTGGGTGAGTGGATAGGTAGGTAGCTGGGGAGATGGATGGATGGTGGACAGGTGGGTGAGTGTATGAATGGGTGGGTGGATAGTGGGTAAGTGGGTGAGTGGATGGTGGACAGGTGGGTGAGTGGATGGGTAGGTAGATGGGGAGGTGGATGGGTGGTTGCTGGACAGGTGGGTGAGTGGATAGATGGGCAGATGGATGGTGGACAAGTGGGTGA... | pathogenic | 320,513 |
Located at chromosome 21 position 45511090, the variant affecting gene SLC19A1—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GGGGCCCTGAATTGGAGCCGCGGCAAAGGAGAGGGCAGGTCAGGGCACGTGGTGAGTGATTGCTGCGGCTTCTGAGCACGGCTGGGTCTGTGGGGCCTGAGCAGAGGTGACCCGCGATCCGGCGCCACGGCAGGCAGGACTCCCCACCCTTGCTGCTGCCTACACCCCCAGGGCAGCCCCAGAGTCGGGGGCGCAGCTCCCTGCTTGCCAGTTCAGAGCCCAGCCCCTCTCACCCAGCCCAGAGGAGGACACAGATGGAGGAGGGGCACCCGGAGGGTCCCCCCGCCGACAGGCCCCACGTCTCCCACCTGCAGGACAAT... | GGGGCCCTGAATTGGAGCCGCGGCAAAGGAGAGGGCAGGTCAGGGCACGTGGTGAGTGATTGCTGCGGCTTCTGAGCACGGCTGGGTCTGTGGGGCCTGAGCAGAGGTGACCCGCGATCCGGCGCCACGGCAGGCAGGACTCCCCACCCTTGCTGCTGCCTACACCCCCAGGGCAGCCCCAGAGTCGGGGGCGCAGCTCCCTGCTTGCCAGTTCAGAGCCCAGCCCCTCTCACCCAGCCCAGAGGAGGACACAGATGGAGGAGGGGCACCCGGAGGGTCCCCCCGCCGACAGGCCCCACGTCTCCCACCTGCAGGACAAT... | benign | 320,527 |
Clinical significance of chromosome 21, position 45981900, gene COL6A1 (collagen type VI alpha 1 chain): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bethlem_myopathy_1A'] | GGTAAATTGACTGTACAGTAAGTGTACAAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGAGGACCACTTGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATCGTGAGACCCCCATCTCTACAAAACATACAAAATTAGCTGGGTATGGTGGCACATGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGTGGAGGGATCACCTGAACCCAGGAGACTGAGGCTGCAGTGAGCTGTGATGAGGCCACTACGTTCCAGCCTGGATGACAGAGTGAGCCCCTTAGATAATAATAAT... | GGTAAATTGACTGTACAGTAAGTGTACAAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGAGGACCACTTGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATCGTGAGACCCCCATCTCTACAAAACATACAAAATTAGCTGGGTATGGTGGCACATGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGTGGAGGGATCACCTGAACCCAGGAGACTGAGGCTGCAGTGAGCTGTGATGAGGCCACTACGTTCCAGCCTGGATGACAGAGTGAGCCCCTTAGATAATAATAAT... | pathogenic | 320,563 |
Gene mutation in COL6A1 (collagen type VI alpha 1 chain) at chromosome 21, position 45982628—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Bethlem_myopathy_1A'] | CTCTGTCTGTCTCTCCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTTTGTCTCTCTCTGTCTCTCCTCTCTCTGTGTCTCTGTCTCTGTCTCTCTCTCTGTCTCTCTCTGTCTGTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTGTCTCTGTCTCTCCTCTGTCTCTCTGTGTCTGTCTCTCTGTCTCTGTCTTTCTGTCTCTCTCTCACTGTCTCTGTCTCTCTCTGTCTCTCTGTCTCTGTGTCTCTCTGTCTCTGTCTCTCACTGTCTCTCTCTCTGTCTCTGTCTCTCTGTCTCTCTGTC... | CTCTGTCTGTCTCTCCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTTTGTCTCTCTCTGTCTCTCCTCTCTCTGTGTCTCTGTCTCTGTCTCTCTCTCTGTCTCTCTCTGTCTGTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTGTCTCTGTCTCTCCTCTGTCTCTCTGTGTCTGTCTCTCTGTCTCTGTCTTTCTGTCTCTCTCTCACTGTCTCTGTCTCTCTCTGTCTCTCTGTCTCTGTGTCTCTCTGTCTCTGTCTCTCACTGTCTCTCTCTCTGTCTCTGTCTCTCTGTCTCTCTGTC... | pathogenic | 320,565 |
Clinically, how would you classify the variant at chromosome 21, position 45986696, gene COL6A1 (collagen type VI alpha 1 chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | AGAGAAACAGAAACAGGGAGAAACAGACACAGAGAGAGACAGAGACAGAGAGAGATAGAGACAGAGACAGAGAGAGACAGAGACAAAGAGTGACAGAGGGACCAAGACAGGCAGACAGAGACAAACAGAGACAGAGACAGAGACACAGAGAGAGACACAGAGAGACAGAGACGGGAACAGAGACAGGCAGACAGAGACAGAGAGAGACAGAGACAGAAACAGAGACAGAGGGACAGAGACAGGCAGAGAGAGACAGAGAGACAGAGACAGAGACAGACAAACAGAGACAGAGAGACAGAAACAGGGACAGAGACAGAAAG... | AGAGAAACAGAAACAGGGAGAAACAGACACAGAGAGAGACAGAGACAGAGAGAGATAGAGACAGAGACAGAGAGAGACAGAGACAAAGAGTGACAGAGGGACCAAGACAGGCAGACAGAGACAAACAGAGACAGAGACAGAGACACAGAGAGAGACACAGAGAGACAGAGACGGGAACAGAGACAGGCAGACAGAGACAGAGAGAGACAGAGACAGAAACAGAGACAGAGGGACAGAGACAGGCAGAGAGAGACAGAGAGACAGAGACAGAGACAGACAAACAGAGACAGAGAGACAGAAACAGGGACAGAGACAGAAAG... | benign | 320,584 |
Is the variant located on chromosome 21 at position 45987485, gene COL6A1 (collagen type VI alpha 1 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AGAGACTGAGAGACTGAGAGAGACGGGGTGGTTTTCCCCACAGCATCAACACCAAGCAGGGCTAGGATCACTGAAACAGACTCATCAGACCCGAAGCATGCGCTTTCTCGGGGTTTTTCTGGACTGAGGGGTTTCCTCTCATCCCAGTGTCCAGCTGTGGGGACGCAGGGGCCGCAAGCCCCGGAGTGTCCAGAGGGGAACGTGGCCTCCCCACACCCAGCCCTTCACGAGGCCTCAGGATCCCAGTGGGGGTACCCGAGGCTGCCCTGTCCAGCCAGGCGGTGCGGGGGGTTTGGGGAGAGCCTCTCCCCGAGGTCGGT... | AGAGACTGAGAGACTGAGAGAGACGGGGTGGTTTTCCCCACAGCATCAACACCAAGCAGGGCTAGGATCACTGAAACAGACTCATCAGACCCGAAGCATGCGCTTTCTCGGGGTTTTTCTGGACTGAGGGGTTTCCTCTCATCCCAGTGTCCAGCTGTGGGGACGCAGGGGCCGCAAGCCCCGGAGTGTCCAGAGGGGAACGTGGCCTCCCCACACCCAGCCCTTCACGAGGCCTCAGGATCCCAGTGGGGGTACCCGAGGCTGCCCTGTCCAGCCAGGCGGTGCGGGGGGTTTGGGGAGAGCCTCTCCCCGAGGTCGGT... | benign | 320,593 |
Determine if the mutation at chromosome 21, position 45987622 in gene COL6A1 (collagen type VI alpha 1 chain) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bethlem_myopathy_1A'] | CTCATCCCAGTGTCCAGCTGTGGGGACGCAGGGGCCGCAAGCCCCGGAGTGTCCAGAGGGGAACGTGGCCTCCCCACACCCAGCCCTTCACGAGGCCTCAGGATCCCAGTGGGGGTACCCGAGGCTGCCCTGTCCAGCCAGGCGGTGCGGGGGGTTTGGGGAGAGCCTCTCCCCGAGGTCGGTCTCAGAGGGCCACATGGCCGGTGTGGGCCGGACATTCCCTTTCCAATGGTTGTGCCCACTTCCCTCCAGAGTTGGTGCCAAGCTGGGACCTGGGGGACTTGGAGTCTCAGGAAGTCGTCCGCTGTCTGCAGGGGGTG... | CTCATCCCAGTGTCCAGCTGTGGGGACGCAGGGGCCGCAAGCCCCGGAGTGTCCAGAGGGGAACGTGGCCTCCCCACACCCAGCCCTTCACGAGGCCTCAGGATCCCAGTGGGGGTACCCGAGGCTGCCCTGTCCAGCCAGGCGGTGCGGGGGGTTTGGGGAGAGCCTCTCCCCGAGGTCGGTCTCAGAGGGCCACATGGCCGGTGTGGGCCGGACATTCCCTTTCCAATGGTTGTGCCCACTTCCCTCCAGAGTTGGTGCCAAGCTGGGACCTGGGGGACTTGGAGTCTCAGGAAGTCGTCCGCTGTCTGCAGGGGGTG... | pathogenic | 320,596 |
Chromosome 21, position 45989773, gene COL6A1 (collagen type VI alpha 1 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bethlem_myopathy_1A', 'Ullrich_congenital_muscular_dystrophy_1A'] | CTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACG... | CTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACG... | pathogenic | 320,632 |
Variant in COL6A1 (collagen type VI alpha 1 chain), chromosome 21, position 45990283—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Bethlem_myopathy_1A'] | GGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCT... | GGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCT... | pathogenic | 320,644 |
Evaluate the clinical significance of the mutation at chromosome 21, position 45990754 in gene COL6A1 (collagen type VI alpha 1 chain): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTG... | GCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTG... | benign | 320,662 |
Gene COL6A1 (collagen type VI alpha 1 chain) variant at chromosome position 45990770 on chromosome 21: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bethlem_myopathy_1A'] | TGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAA... | TGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAA... | pathogenic | 320,663 |
A genetic variant at chromosome 21, position 45990826, affecting gene COL6A1 (collagen type VI alpha 1 chain)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Bethlem_myopathy_1A'] | CGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAA... | CGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAA... | pathogenic | 320,670 |
Gene mutation in COL6A1 (collagen type VI alpha 1 chain) at chromosome 21, position 45991056—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTA... | TTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTA... | benign | 320,676 |
Variant on chromosome 21, at position 45997444, affecting COL6A1 (collagen type VI alpha 1 chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bethlem_myopathy_1A', 'COL6A1-related_disorder', 'likely other unspecified diseases'] | GGCCATGCAGCCAGTGGCAGATTGTGGGGAGGGGACGGCCCAGGGCCACGTTCCAGGCTTGGGAGGCTGCTCCAGACCTTGGTAGCTGAAAGTCTCAGTGGGAATGAGCGTTCAGAGGCCAGGACTTGCTCGGAGAATTCTAACCACACCCTGCCTGTTTTATATGTTCAGTTTTCAAAGTAATCAATAGCCACTATAAGAAAAAAACAAAGCCACTTTCAAAGGGTTGTGGTAAGAGGCAGTCCTGTGAGCAGGCCGGCTGCAGGGCCTCCAGGGCTGTGGGGCAGGCTGCACAGGGGCTGGTGGGTCCCATGCCTGGG... | GGCCATGCAGCCAGTGGCAGATTGTGGGGAGGGGACGGCCCAGGGCCACGTTCCAGGCTTGGGAGGCTGCTCCAGACCTTGGTAGCTGAAAGTCTCAGTGGGAATGAGCGTTCAGAGGCCAGGACTTGCTCGGAGAATTCTAACCACACCCTGCCTGTTTTATATGTTCAGTTTTCAAAGTAATCAATAGCCACTATAAGAAAAAAACAAAGCCACTTTCAAAGGGTTGTGGTAAGAGGCAGTCCTGTGAGCAGGCCGGCTGCAGGGCCTCCAGGGCTGTGGGGCAGGCTGCACAGGGGCTGGTGGGTCCCATGCCTGGG... | pathogenic | 320,708 |
Mutation at chromosome 21, position 45997518, within COL6A1 (collagen type VI alpha 1 chain): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GACCTTGGTAGCTGAAAGTCTCAGTGGGAATGAGCGTTCAGAGGCCAGGACTTGCTCGGAGAATTCTAACCACACCCTGCCTGTTTTATATGTTCAGTTTTCAAAGTAATCAATAGCCACTATAAGAAAAAAACAAAGCCACTTTCAAAGGGTTGTGGTAAGAGGCAGTCCTGTGAGCAGGCCGGCTGCAGGGCCTCCAGGGCTGTGGGGCAGGCTGCACAGGGGCTGGTGGGTCCCATGCCTGGGGGTCTGGGAATAGTCTCTAGGCTGCTGTCCTGGAGGAGGTTTCCCCCAACGCCTGAGACCAGGGCACCATGTGA... | GACCTTGGTAGCTGAAAGTCTCAGTGGGAATGAGCGTTCAGAGGCCAGGACTTGCTCGGAGAATTCTAACCACACCCTGCCTGTTTTATATGTTCAGTTTTCAAAGTAATCAATAGCCACTATAAGAAAAAAACAAAGCCACTTTCAAAGGGTTGTGGTAAGAGGCAGTCCTGTGAGCAGGCCGGCTGCAGGGCCTCCAGGGCTGTGGGGCAGGCTGCACAGGGGCTGGTGGGTCCCATGCCTGGGGGTCTGGGAATAGTCTCTAGGCTGCTGTCCTGGAGGAGGTTTCCCCCAACGCCTGAGACCAGGGCACCATGTGA... | benign | 320,711 |
Evaluate this variant at chromosome 21, position 45998395, gene COL6A1 (collagen type VI alpha 1 chain): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Bethlem_myopathy_1A'] | TGCTGGGGCGTTGACCACGAAGGGTGCAGGAGCTTCACAGCCAGGCCTGGGTGCTTGCACAGTCGGGGTAGAGAGAGCAATACACTAGATGCCTCCTGTCTGCCTGGTGGAGGCCACGGGGTCAGGATGGTGAATGGGCCAAGTCTGGTAGTGGGGAAGTTGTAAACATTTGAACCACCGGACAGGCCTCATCGGGAAGCATCAGCCTAACCACAGGCCAGGGACAGGCGTCTGAGCAGGCACAGGCCAGGGACAGGCGTCCGACCAGGCTCATGGCTGGGGCCAGGTGGGCCAGGTGGGCCAGGTGGGCCGGGCGATGT... | TGCTGGGGCGTTGACCACGAAGGGTGCAGGAGCTTCACAGCCAGGCCTGGGTGCTTGCACAGTCGGGGTAGAGAGAGCAATACACTAGATGCCTCCTGTCTGCCTGGTGGAGGCCACGGGGTCAGGATGGTGAATGGGCCAAGTCTGGTAGTGGGGAAGTTGTAAACATTTGAACCACCGGACAGGCCTCATCGGGAAGCATCAGCCTAACCACAGGCCAGGGACAGGCGTCTGAGCAGGCACAGGCCAGGGACAGGCGTCCGACCAGGCTCATGGCTGGGGCCAGGTGGGCCAGGTGGGCCAGGTGGGCCGGGCGATGT... | pathogenic | 320,724 |
Is the genetic variant on chromosome 21, position 45998922, gene COL6A1 (collagen type VI alpha 1 chain), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ullrich_congenital_muscular_dystrophy_1A'] | GTGCAGGTGGGGGCAGGGTGGTGTCCAGGCTCAGCCCACAGAGGGTCCTGCGGTTGGGGGTGGGCTAAGGGGACCAGGCCAGGCCCAAAGGGGACCATGAGGGAGGGCAGTCTGGGGCCACTCTGATAGGAGAAGGGGCAGGTGGTCTGCGGCCTGGGGACCTGTAGCCTCACCCCTCCGTGGGGACCTGAGGCACCAGCCGGGCACTCACCGAAGTCATCTGGGACAGGCTTCACCCTTCCGTGGGGGCCTGAGGCACCAGCCGGGCGCCCACCAAAGTCATCTGGGAGAGGCTTCACCCCTCCGTGGGGGCCTGAGGC... | GTGCAGGTGGGGGCAGGGTGGTGTCCAGGCTCAGCCCACAGAGGGTCCTGCGGTTGGGGGTGGGCTAAGGGGACCAGGCCAGGCCCAAAGGGGACCATGAGGGAGGGCAGTCTGGGGCCACTCTGATAGGAGAAGGGGCAGGTGGTCTGCGGCCTGGGGACCTGTAGCCTCACCCCTCCGTGGGGACCTGAGGCACCAGCCGGGCACTCACCGAAGTCATCTGGGACAGGCTTCACCCTTCCGTGGGGGCCTGAGGCACCAGCCGGGCGCCCACCAAAGTCATCTGGGAGAGGCTTCACCCCTCCGTGGGGGCCTGAGGC... | pathogenic | 320,734 |
Gene mutation in COL6A1 (collagen type VI alpha 1 chain) at chromosome 21, position 46002345—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Bethlem_myopathy_1A', 'COL6A1-related_disorder'] | TATGGCCCCAGTACCCTCGTCTCTCCCTCCCCAGGAATGCGAGATTTTGGACATCATCATGAAAATGTGCTGTGAGTATCTCTGAGAAGCCGTCCTCGTTAGGGAGAGCAGGGCCGCCAGCCTGGCCTGTTCCACTCCTAGAAGGGTGTCTCCACTGTTGGGGGCCTGGGTCTCTGGGTACATCCTTGAGGAGGCTCCTCAGCCAGCCCCTACCGGCCTCCAAAGCCCTCCCAGGCCCCCGGGTCCCCGCACAGGCTGAGAGTCCCCGGTGCGGTGCAGAGCTGCCACGTGGGGAGGGCGGCCGGGGAGGCGGGGAGGCG... | TATGGCCCCAGTACCCTCGTCTCTCCCTCCCCAGGAATGCGAGATTTTGGACATCATCATGAAAATGTGCTGTGAGTATCTCTGAGAAGCCGTCCTCGTTAGGGAGAGCAGGGCCGCCAGCCTGGCCTGTTCCACTCCTAGAAGGGTGTCTCCACTGTTGGGGGCCTGGGTCTCTGGGTACATCCTTGAGGAGGCTCCTCAGCCAGCCCCTACCGGCCTCCAAAGCCCTCCCAGGCCCCCGGGTCCCCGCACAGGCTGAGAGTCCCCGGTGCGGTGCAGAGCTGCCACGTGGGGAGGGCGGCCGGGGAGGCGGGGAGGCG... | pathogenic | 320,792 |
Variant chromosome 21, position 46002718, gene COL6A1 (collagen type VI alpha 1 chain): benign or pathogenic? Disease(s)? | benign | CGGGGAGGCTGCCCCAAGAGTAAAAGCCTTTCTGACGTGCGCAGGACGCGGCCCTGACTGGTCTAACTGACTCTTTCTCTTCTCCTCAGCTTGCTGTGGTGAGACCCAGGCTCTAGCTCCTGAGAGAATGGATCCCGGGGGTCGGGGAGCGAGGCCTGGGTCCCACACATGTCACAGGACAGCACATGGCACTCTGGTCCCCGCCCGCAGCTCCCTGCACCTGCCCGCCCCCTCTGGGGCCTGCTCCAAGCCAGCAGGGTTCCCGGGTGTTGGGCTGGGCCCCGCCCTCTTTCACCCATAACTGAAATAACCAGGAGCAG... | CGGGGAGGCTGCCCCAAGAGTAAAAGCCTTTCTGACGTGCGCAGGACGCGGCCCTGACTGGTCTAACTGACTCTTTCTCTTCTCCTCAGCTTGCTGTGGTGAGACCCAGGCTCTAGCTCCTGAGAGAATGGATCCCGGGGGTCGGGGAGCGAGGCCTGGGTCCCACACATGTCACAGGACAGCACATGGCACTCTGGTCCCCGCCCGCAGCTCCCTGCACCTGCCCGCCCCCTCTGGGGCCTGCTCCAAGCCAGCAGGGTTCCCGGGTGTTGGGCTGGGCCCCGCCCTCTTTCACCCATAACTGAAATAACCAGGAGCAG... | benign | 320,799 |
Gene COL6A2 (collagen type VI alpha 2 chain) variant at chromosome 21, position 46115897—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Bethlem_myopathy_1A'] | ATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCT... | ATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCT... | pathogenic | 320,893 |
Variant chromosome 21, position 46116767, gene COL6A2 (collagen type VI alpha 2 chain): benign or pathogenic? Disease(s)? | pathogenic; ['Bethlem_myopathy_1A', 'COL6A2-related_disorder'] | TTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTG... | TTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTG... | pathogenic | 320,920 |
Determine if the mutation at chromosome 21, position 46121557 in gene COL6A2 (collagen type VI alpha 2 chain) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bethlem_myopathy_1A', 'Ullrich_congenital_muscular_dystrophy_1A'] | GCCACTCACCAGACATCCAACTCCACCTGGAGCCTCCCCAGATCATTCCTAAATCCTCGGCATGGGCGGGACCGACGCAGCAGAGGGACGAGGGCTGGCAGCAGAGCCACTGGCGCAGGCTGAGGCTGTTGGGAAGGAGCCTGGGGATCGAGGTCCCAGGTCCCAAAGCCAGAGCCCTCCTGTAGAGAAGGAGCATCGGCCCCGGCACAGCCCCCACCCTCCACAGGCTCTGGGCTTGGACTCAGCCCCCTCCCTCACCCACACGCCTGTTCTCTGCAGGGGCGCAGGGGAGACCCCGGCACCAAGGGCAGCCCAGGCAG... | GCCACTCACCAGACATCCAACTCCACCTGGAGCCTCCCCAGATCATTCCTAAATCCTCGGCATGGGCGGGACCGACGCAGCAGAGGGACGAGGGCTGGCAGCAGAGCCACTGGCGCAGGCTGAGGCTGTTGGGAAGGAGCCTGGGGATCGAGGTCCCAGGTCCCAAAGCCAGAGCCCTCCTGTAGAGAAGGAGCATCGGCCCCGGCACAGCCCCCACCCTCCACAGGCTCTGGGCTTGGACTCAGCCCCCTCCCTCACCCACACGCCTGTTCTCTGCAGGGGCGCAGGGGAGACCCCGGCACCAAGGGCAGCCCAGGCAG... | pathogenic | 320,968 |
Variant chromosome 21, position 46124895, gene COL6A2 (collagen type VI alpha 2 chain): benign or pathogenic? Disease(s)? | pathogenic; ['Bethlem_myopathy_1A'] | CCAGGCTAACATGTGTTCCCTGTCACAGGGAGGCCGAGGCGACTTTGGCTTGAAAGGAGAACCTGGGAGGAAAGGAGAGAAAGGAGAGCCTGTGAGTGTCACCGTCCCGAAGCCCACAGCAGCTGGGCAGAGGCAGGGAGGGGCCCTGAGGCTGAGCGTGTGCATCTATGAGTACAGGAGAACGCCAGGCAGCTTGGCCCCAGCCATGAGCACCACCCCCACCTTCCTAAAGGGAACGGCTGGCTCAGGGGCCCCCTCCCTCAACCCAGCCTCCCTTCCAGCGTCCCCTCCCCAGTGACCCCCCAACATCCCCCCCACAG... | CCAGGCTAACATGTGTTCCCTGTCACAGGGAGGCCGAGGCGACTTTGGCTTGAAAGGAGAACCTGGGAGGAAAGGAGAGAAAGGAGAGCCTGTGAGTGTCACCGTCCCGAAGCCCACAGCAGCTGGGCAGAGGCAGGGAGGGGCCCTGAGGCTGAGCGTGTGCATCTATGAGTACAGGAGAACGCCAGGCAGCTTGGCCCCAGCCATGAGCACCACCCCCACCTTCCTAAAGGGAACGGCTGGCTCAGGGGCCCCCTCCCTCAACCCAGCCTCCCTTCCAGCGTCCCCTCCCCAGTGACCCCCCAACATCCCCCCCACAG... | pathogenic | 321,000 |
Variant in COL6A2 (collagen type VI alpha 2 chain), chromosome 21, position 46124919—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Bethlem_myopathy_1A', 'COL6A2-related_disorder'] | ACAGGGAGGCCGAGGCGACTTTGGCTTGAAAGGAGAACCTGGGAGGAAAGGAGAGAAAGGAGAGCCTGTGAGTGTCACCGTCCCGAAGCCCACAGCAGCTGGGCAGAGGCAGGGAGGGGCCCTGAGGCTGAGCGTGTGCATCTATGAGTACAGGAGAACGCCAGGCAGCTTGGCCCCAGCCATGAGCACCACCCCCACCTTCCTAAAGGGAACGGCTGGCTCAGGGGCCCCCTCCCTCAACCCAGCCTCCCTTCCAGCGTCCCCTCCCCAGTGACCCCCCAACATCCCCCCCACAGCATCCCCCACAAGGGTCCCCTCCC... | ACAGGGAGGCCGAGGCGACTTTGGCTTGAAAGGAGAACCTGGGAGGAAAGGAGAGAAAGGAGAGCCTGTGAGTGTCACCGTCCCGAAGCCCACAGCAGCTGGGCAGAGGCAGGGAGGGGCCCTGAGGCTGAGCGTGTGCATCTATGAGTACAGGAGAACGCCAGGCAGCTTGGCCCCAGCCATGAGCACCACCCCCACCTTCCTAAAGGGAACGGCTGGCTCAGGGGCCCCCTCCCTCAACCCAGCCTCCCTTCCAGCGTCCCCTCCCCAGTGACCCCCCAACATCCCCCCCACAGCATCCCCCACAAGGGTCCCCTCCC... | pathogenic | 321,002 |
Is the genetic mutation found on chromosome 21 at position 46125327, within the gene COL6A2 (collagen type VI alpha 2 chain), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CAACATAGCATCCCCTCCAGAGTCCCCTCCCCCAAAAGATGCCTCCACATAGCATCCCCCTCAGAGTTCCTACACACAGCATTCCCCAAGGGTTCCCTCCCCAATGTCCTCCCCACAGTTATCCCCCAGAAGGTGCTCTGTGCCTCCAAATCCCTAGCCTGGCCAAGGGTTTAACCAGGGCTGCAGGTTGGTCTGGAACTGAGCACAAAACAAGGGATGGATAACGATGGATGGATGGGCAAGTGGATGGGGGTGGGCAAATGGATGGATGGGAGGATGGGTGATGGATGGATGAGTGAATAGAAGAGTGGGTGGATAGA... | CAACATAGCATCCCCTCCAGAGTCCCCTCCCCCAAAAGATGCCTCCACATAGCATCCCCCTCAGAGTTCCTACACACAGCATTCCCCAAGGGTTCCCTCCCCAATGTCCTCCCCACAGTTATCCCCCAGAAGGTGCTCTGTGCCTCCAAATCCCTAGCCTGGCCAAGGGTTTAACCAGGGCTGCAGGTTGGTCTGGAACTGAGCACAAAACAAGGGATGGATAACGATGGATGGATGGGCAAGTGGATGGGGGTGGGCAAATGGATGGATGGGAGGATGGGTGATGGATGGATGAGTGAATAGAAGAGTGGGTGGATAGA... | benign | 321,009 |
Benign or pathogenic: chromosome 21, position 46125455, gene COL6A2 (collagen type VI alpha 2 chain) variant? Disease(s) if pathogenic? | benign | GAAGGTGCTCTGTGCCTCCAAATCCCTAGCCTGGCCAAGGGTTTAACCAGGGCTGCAGGTTGGTCTGGAACTGAGCACAAAACAAGGGATGGATAACGATGGATGGATGGGCAAGTGGATGGGGGTGGGCAAATGGATGGATGGGAGGATGGGTGATGGATGGATGAGTGAATAGAAGAGTGGGTGGATAGAAGATGGATGAATGGATGGATTGCTGGATGAGTGGGTGGGTGGATGGATAAGTGGATACATGGGTGAATGAGTAGATGTATGGGTGAGTAGGTGGGTAGGTGGGTAGATGGATGGGTGGGTGGGCGAGT... | GAAGGTGCTCTGTGCCTCCAAATCCCTAGCCTGGCCAAGGGTTTAACCAGGGCTGCAGGTTGGTCTGGAACTGAGCACAAAACAAGGGATGGATAACGATGGATGGATGGGCAAGTGGATGGGGGTGGGCAAATGGATGGATGGGAGGATGGGTGATGGATGGATGAGTGAATAGAAGAGTGGGTGGATAGAAGATGGATGAATGGATGGATTGCTGGATGAGTGGGTGGGTGGATGGATAAGTGGATACATGGGTGAATGAGTAGATGTATGGGTGAGTAGGTGGGTAGGTGGGTAGATGGATGGGTGGGTGGGCGAGT... | benign | 321,012 |
Determine if the mutation at chromosome 21, position 46125455 in gene COL6A2 (collagen type VI alpha 2 chain) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GAAGGTGCTCTGTGCCTCCAAATCCCTAGCCTGGCCAAGGGTTTAACCAGGGCTGCAGGTTGGTCTGGAACTGAGCACAAAACAAGGGATGGATAACGATGGATGGATGGGCAAGTGGATGGGGGTGGGCAAATGGATGGATGGGAGGATGGGTGATGGATGGATGAGTGAATAGAAGAGTGGGTGGATAGAAGATGGATGAATGGATGGATTGCTGGATGAGTGGGTGGGTGGATGGATAAGTGGATACATGGGTGAATGAGTAGATGTATGGGTGAGTAGGTGGGTAGGTGGGTAGATGGATGGGTGGGTGGGCGAGT... | GAAGGTGCTCTGTGCCTCCAAATCCCTAGCCTGGCCAAGGGTTTAACCAGGGCTGCAGGTTGGTCTGGAACTGAGCACAAAACAAGGGATGGATAACGATGGATGGATGGGCAAGTGGATGGGGGTGGGCAAATGGATGGATGGGAGGATGGGTGATGGATGGATGAGTGAATAGAAGAGTGGGTGGATAGAAGATGGATGAATGGATGGATTGCTGGATGAGTGGGTGGGTGGATGGATAAGTGGATACATGGGTGAATGAGTAGATGTATGGGTGAGTAGGTGGGTAGGTGGGTAGATGGATGGGTGGGTGGGCGAGT... | benign | 321,013 |
Variant at chromosome position 46126116, chromosome 21, gene COL6A2 (collagen type VI alpha 2 chain): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bethlem_myopathy_1A', 'Ullrich_congenital_muscular_dystrophy_1A'] | ACCGATGGATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTT... | ACCGATGGATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTT... | pathogenic | 321,034 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 21, position 46126123, gene COL6A2 (collagen type VI alpha 2 chain). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bethlem_myopathy_1A'] | GATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTTGGCTGCT... | GATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTTGGCTGCT... | pathogenic | 321,035 |
Evaluate if the mutation on chromosome 21 at position 46126476 in COL6A2 (collagen type VI alpha 2 chain) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCC... | CCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCC... | benign | 321,046 |
Does the variant on chromosome 21 at location 46131945 affecting gene COL6A2 (collagen type VI alpha 2 chain) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CAGCTGGGCTGCCGTGCGTCTGGGATGGGGCTGAGGGAGGGTGCTGCCCAGGTGCTGGAGGATGTTCCAGCACCAGGTTCCAGCGGAGCCTCGGAAACAGGCCCCAGAGGCTGGTGAGCCTCGCTGGGTGTGGGCACTAATCCCGTGCATGGTGACTCGTGGGCGCTCACGGCCCACCTGGTGGCAGGTGAAGGCTTCCGGTTGGGCAGCAGATAGTCCTGGGGGAAGCTGGCAGTCCTGGCACCATGACGTATCTGGGCTGGTGTCATGCACAGTAGGGCGAATGGCCACAGCTGCCTGCCAGCAGCCCTGATCCCGGG... | CAGCTGGGCTGCCGTGCGTCTGGGATGGGGCTGAGGGAGGGTGCTGCCCAGGTGCTGGAGGATGTTCCAGCACCAGGTTCCAGCGGAGCCTCGGAAACAGGCCCCAGAGGCTGGTGAGCCTCGCTGGGTGTGGGCACTAATCCCGTGCATGGTGACTCGTGGGCGCTCACGGCCCACCTGGTGGCAGGTGAAGGCTTCCGGTTGGGCAGCAGATAGTCCTGGGGGAAGCTGGCAGTCCTGGCACCATGACGTATCTGGGCTGGTGTCATGCACAGTAGGGCGAATGGCCACAGCTGCCTGCCAGCAGCCCTGATCCCGGG... | benign | 321,063 |
The mutation in gene FTCD (formimidoyltransferase cyclodeaminase) at chromosome 21, position 46138498—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GAGGCTATCCTTCCAGCGTCGAAGGTCCTGCTGTCCCTGGGGTTTCTGTCCCATGCACAGAACCAGGGCCCCTTTCCCTCAGACAAGGGGCCTCACAGCCCAGGGACCTGCACTGAACCCCAGGTCCTCTGAATACCTGTGACCCTGCCCACTGTGGGCTGCACTGGGTGTCTGGGGACCCTGGCGCTGAGGTCTGTCTCCTCACGCTGCAACCCCATTCCCTCCAACCCTGGCTCCCATGGGCCACTGACCATATGTCCTGCTCCTGCCCCAAGACCCGCAGCTCAGCTCTCAGCCCTGCCCCCAAAACCGCCAACACA... | GAGGCTATCCTTCCAGCGTCGAAGGTCCTGCTGTCCCTGGGGTTTCTGTCCCATGCACAGAACCAGGGCCCCTTTCCCTCAGACAAGGGGCCTCACAGCCCAGGGACCTGCACTGAACCCCAGGTCCTCTGAATACCTGTGACCCTGCCCACTGTGGGCTGCACTGGGTGTCTGGGGACCCTGGCGCTGAGGTCTGTCTCCTCACGCTGCAACCCCATTCCCTCCAACCCTGGCTCCCATGGGCCACTGACCATATGTCCTGCTCCTGCCCCAAGACCCGCAGCTCAGCTCTCAGCCCTGCCCCCAAAACCGCCAACACA... | benign | 321,110 |
Chromosome 21, position 46145854, gene FTCD (formimidoyltransferase cyclodeaminase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Glutamate_formiminotransferase_deficiency'] | TCTCCCTTTCTCCAGGGGAGTTTGAAGAAGACTCTGGTCCACCACCTCTTGTAAAGGGCCCACCCGCAGTTATCCCGAGGCCTAATCGTCTCCCTGTGATGCTGTGCTTTAGAGCTCATGCTCCTGTTTCACTTTTATGTTCCACTCTGTACACCTGGCTCCGCCCTCTAGATAACAGTAGCAAACTTAGTAAAAGTATTAGTCTTTAATCTTTCTAAAAAGAGGATTAAAAAAAATGATGTGAGCTGTCCTCTCTCTCTCTGCCTCAGCTACCTAACAGGGAAGGGGCCCCTGTGCGGTGGACATGTGACTCACGTGAC... | TCTCCCTTTCTCCAGGGGAGTTTGAAGAAGACTCTGGTCCACCACCTCTTGTAAAGGGCCCACCCGCAGTTATCCCGAGGCCTAATCGTCTCCCTGTGATGCTGTGCTTTAGAGCTCATGCTCCTGTTTCACTTTTATGTTCCACTCTGTACACCTGGCTCCGCCCTCTAGATAACAGTAGCAAACTTAGTAAAAGTATTAGTCTTTAATCTTTCTAAAAAGAGGATTAAAAAAAATGATGTGAGCTGTCCTCTCTCTCTCTGCCTCAGCTACCTAACAGGGAAGGGGCCCCTGTGCGGTGGACATGTGACTCACGTGAC... | pathogenic | 321,117 |
Mutation found at chromosome 21 position 46145925, gene FTCD (formimidoyltransferase cyclodeaminase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['FTCD-related_disorder', 'Glutamate_formiminotransferase_deficiency', 'Inborn_genetic_diseases'] | ATCCCGAGGCCTAATCGTCTCCCTGTGATGCTGTGCTTTAGAGCTCATGCTCCTGTTTCACTTTTATGTTCCACTCTGTACACCTGGCTCCGCCCTCTAGATAACAGTAGCAAACTTAGTAAAAGTATTAGTCTTTAATCTTTCTAAAAAGAGGATTAAAAAAAATGATGTGAGCTGTCCTCTCTCTCTCTGCCTCAGCTACCTAACAGGGAAGGGGCCCCTGTGCGGTGGACATGTGACTCACGTGACCTTATCAATCATTAAAGATGACTCACACTCTTTACCCTGCCTCTTTTGCTTTGTATCCAATAAATAACAGC... | ATCCCGAGGCCTAATCGTCTCCCTGTGATGCTGTGCTTTAGAGCTCATGCTCCTGTTTCACTTTTATGTTCCACTCTGTACACCTGGCTCCGCCCTCTAGATAACAGTAGCAAACTTAGTAAAAGTATTAGTCTTTAATCTTTCTAAAAAGAGGATTAAAAAAAATGATGTGAGCTGTCCTCTCTCTCTCTGCCTCAGCTACCTAACAGGGAAGGGGCCCCTGTGCGGTGGACATGTGACTCACGTGACCTTATCAATCATTAAAGATGACTCACACTCTTTACCCTGCCTCTTTTGCTTTGTATCCAATAAATAACAGC... | pathogenic | 321,119 |
Gene FTCD (formimidoyltransferase cyclodeaminase) variant at chromosome 21, position 46152980—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Glutamate_formiminotransferase_deficiency'] | GACTCTGACCTCTGCCCTTGGCCGGGGCCTAAAGCAGGACTTAGAGGTCCCTGTGCTTTTGTGCTGAGTCTGCAGGTCGGGAAGCCGGGTCCCAGGACCTTGGCTGTTTGTGGGACCGGGGTCTCTGAGTGGGGAACAGATGGGCAGGTGGTCCCCCCCGCTTTCTCCGGGTATCTATACCCGGAGTGACGCTCAGACCGGGTGACCACTGCTGTGCAGACGTGGAGGGAAAGGCCTGGGGGCACCTGAAGGTTTGTAGGGGTGTCGGGGCTCCCAAGGCATCTGGAGGGATATGGGGGGCCCCTGAGGGCACCTGGGAC... | GACTCTGACCTCTGCCCTTGGCCGGGGCCTAAAGCAGGACTTAGAGGTCCCTGTGCTTTTGTGCTGAGTCTGCAGGTCGGGAAGCCGGGTCCCAGGACCTTGGCTGTTTGTGGGACCGGGGTCTCTGAGTGGGGAACAGATGGGCAGGTGGTCCCCCCCGCTTTCTCCGGGTATCTATACCCGGAGTGACGCTCAGACCGGGTGACCACTGCTGTGCAGACGTGGAGGGAAAGGCCTGGGGGCACCTGAAGGTTTGTAGGGGTGTCGGGGCTCCCAAGGCATCTGGAGGGATATGGGGGGCCCCTGAGGGCACCTGGGAC... | pathogenic | 321,132 |
Determine if the mutation at chromosome 21, position 46154202 in gene FTCD (formimidoyltransferase cyclodeaminase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Glutamate_formiminotransferase_deficiency'] | ACCCTCAGTGTGGGCCAGCACCCCTGCCCACCCCCTCCTCAGAGGGCCCTGAAAAGGCGAATTGCAGGGTTAGGATGGAACATGTGGGACATGCTAACGGCAGGACGTTCATGCTTCTGTTTTCTTTGTATGATAAACAGAACCGCAAGCAACCACATAAATATAACGGCAGAGAAGAGGAAAAACTCGTGAACCCGCACACCAGTGTGACTGTGACGTGGGCCCTGCGTCGGGATTTCCTTCGGGGGGACTGGCATGACCGTGACGGGGGTTACGTGTGCCCTGCATGCCGGCGTGACCGTGACGGGGGTTACGTGTGC... | ACCCTCAGTGTGGGCCAGCACCCCTGCCCACCCCCTCCTCAGAGGGCCCTGAAAAGGCGAATTGCAGGGTTAGGATGGAACATGTGGGACATGCTAACGGCAGGACGTTCATGCTTCTGTTTTCTTTGTATGATAAACAGAACCGCAAGCAACCACATAAATATAACGGCAGAGAAGAGGAAAAACTCGTGAACCCGCACACCAGTGTGACTGTGACGTGGGCCCTGCGTCGGGATTTCCTTCGGGGGGACTGGCATGACCGTGACGGGGGTTACGTGTGCCCTGCATGCCGGCGTGACCGTGACGGGGGTTACGTGTGC... | pathogenic | 321,136 |
Chromosome 21, position 46245202, gene MCM3AP: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CATCACTCAAAGTCCAGACAAGCTTACATCGAGACTGGCAGGGCCAGTAATGACTACTCAAAAGCCACAAAATCCTCTCTAAGAGCCATCCTAGGGGGCCTGTTTCAGGGAGGTGAGTTCAGGCTCTACCAGAAACTTCCTAGCCTGTCTCAATGTTTTTAAGTCACTCACTTGAAGAGGGAAGTCCTAAGGAAAGGAAGGATAGAGACCCAAAAGAAAAGCAGCAACATCAACTAAACATCTTCCTTTGCAGAAACTGGACCAGGAAAGTCTCGTGAGGAGCTGATCCCATTGCATCAAGCTCTAATTACCTGATGTAA... | CATCACTCAAAGTCCAGACAAGCTTACATCGAGACTGGCAGGGCCAGTAATGACTACTCAAAAGCCACAAAATCCTCTCTAAGAGCCATCCTAGGGGGCCTGTTTCAGGGAGGTGAGTTCAGGCTCTACCAGAAACTTCCTAGCCTGTCTCAATGTTTTTAAGTCACTCACTTGAAGAGGGAAGTCCTAAGGAAAGGAAGGATAGAGACCCAAAAGAAAAGCAGCAACATCAACTAAACATCTTCCTTTGCAGAAACTGGACCAGGAAAGTCTCGTGAGGAGCTGATCCCATTGCATCAAGCTCTAATTACCTGATGTAA... | benign | 321,230 |
The chromosome 21, position 46260896 genetic variant in gene MCM3AP (minichromosome maintenance complex component 3 associated protein): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Inborn_genetic_diseases', 'MCM3AP-related_disorder', 'Peripheral_neuropathy,_autosomal_recessive,_with_or_without_impaired_intellectual_development'] | AATACAGAAACTAATAGCTCATATATTTTGAATTTGTTAAAAGACTCTTCCCCGTGTGTGTGGATTTTGCCTGTAGGAACACAGGACTCACCGCTGTAGATACTTGCAGAAGCACTGAAGCTCCTGGAGGGTCTCCTTTGCAGTCTGGAAGATTTCCTCCACGAGAAACAAGTCCACTAAGTGGGCACAGACATCCTCACAGCAACGGGCCACACGGACCCTCTGGTCTGTCTCTACTGCATTCCTAGAAACAGGGCAATCAGCATGGAAGACACTGCACTTGGGGCCCACAGACACTGAGGGCTTGCTTGAAAAGTGCA... | AATACAGAAACTAATAGCTCATATATTTTGAATTTGTTAAAAGACTCTTCCCCGTGTGTGTGGATTTTGCCTGTAGGAACACAGGACTCACCGCTGTAGATACTTGCAGAAGCACTGAAGCTCCTGGAGGGTCTCCTTTGCAGTCTGGAAGATTTCCTCCACGAGAAACAAGTCCACTAAGTGGGCACAGACATCCTCACAGCAACGGGCCACACGGACCCTCTGGTCTGTCTCTACTGCATTCCTAGAAACAGGGCAATCAGCATGGAAGACACTGCACTTGGGGCCCACAGACACTGAGGGCTTGCTTGAAAAGTGCA... | pathogenic | 321,258 |
Is chromosome 21, position 46265326, gene MCM3AP (minichromosome maintenance complex component 3 associated protein) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Inborn_genetic_diseases'] | CAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAACAAAACAAAACAAACAAACAAAAAAACAATTTAACCTAGGAGGCAAAAACTTTATACGTTGAAAACTACAAAGCATTGTCGAAAGAAATTAAGAATGACCTAAATAAATGGAAAGACATCCCACATTCTCAGATTAGAAGATTTAATATTGTTAAGATGACAATACTGGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGTACTTTAGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCGAGACCATCCCTGGAC... | CAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAACAAAACAAAACAAACAAACAAAAAAACAATTTAACCTAGGAGGCAAAAACTTTATACGTTGAAAACTACAAAGCATTGTCGAAAGAAATTAAGAATGACCTAAATAAATGGAAAGACATCCCACATTCTCAGATTAGAAGATTTAATATTGTTAAGATGACAATACTGGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGTACTTTAGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCGAGACCATCCCTGGAC... | pathogenic | 321,263 |
Variant on chromosome 21, at position 46266018, affecting MCM3AP (minichromosome maintenance complex component 3 associated protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases'] | GGAAAATCTTCCTGACACTGTATCTGGCAATAACTTATTGGATTATGACTCCAAAAACGCAGGCAACTTTATGAGAGGAAACTTCTGGAGGACTGGGTGCAGCTCCCCGCAGCACGTAGCAGGAGGGGAGCACGAGATGCCACTCACCCCAGGGCGGCAGCTGCGTAGGCAGCACCCGCAGAGCCAACTTCCTCACAGTCCCTCTGCAGGGCCTCCTGGATGAGCTCGTCCACCACCTGCGCCAGGTCCTGTGGAGAGACCAGCATGGGGTGTAATGGAACGTCCCACCCAGGGCAGAAATGCTGGGTAACATGTTGTCA... | GGAAAATCTTCCTGACACTGTATCTGGCAATAACTTATTGGATTATGACTCCAAAAACGCAGGCAACTTTATGAGAGGAAACTTCTGGAGGACTGGGTGCAGCTCCCCGCAGCACGTAGCAGGAGGGGAGCACGAGATGCCACTCACCCCAGGGCGGCAGCTGCGTAGGCAGCACCCGCAGAGCCAACTTCCTCACAGTCCCTCTGCAGGGCCTCCTGGATGAGCTCGTCCACCACCTGCGCCAGGTCCTGTGGAGAGACCAGCATGGGGTGTAATGGAACGTCCCACCCAGGGCAGAAATGCTGGGTAACATGTTGTCA... | pathogenic | 321,268 |
Evaluate this variant at chromosome 21, position 46334525, gene PCNT (pericentrin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II'] | TGACACACAAACATTAGAAGTGTCCTCTTAAGGAAGTGGATGGTCCAGGTTCCTTTGAAGTGTGATCATTCATGTGAGCGGGCAGCTGATTGAGACTACTGTGTCCCCTTTTCGTCCCTCACTTCCTCTTGATTCTGAGAAGATTGATCTAGGGTATTGTCAAATGAAGACTTGTCTGAGATTTTATTTTCACGTCAGTTTTGCCATCATCATTGGCCATGGGTGCTCTCTCTCTGCATTCATCTTGTGACTCATCTAATGATCCCGAAAAGTCGACACTGTCATGTTTCTTTGCTATTTTGGGAAGAAATTGAAATGTT... | TGACACACAAACATTAGAAGTGTCCTCTTAAGGAAGTGGATGGTCCAGGTTCCTTTGAAGTGTGATCATTCATGTGAGCGGGCAGCTGATTGAGACTACTGTGTCCCCTTTTCGTCCCTCACTTCCTCTTGATTCTGAGAAGATTGATCTAGGGTATTGTCAAATGAAGACTTGTCTGAGATTTTATTTTCACGTCAGTTTTGCCATCATCATTGGCCATGGGTGCTCTCTCTCTGCATTCATCTTGTGACTCATCTAATGATCCCGAAAAGTCGACACTGTCATGTTTCTTTGCTATTTTGGGAAGAAATTGAAATGTT... | pathogenic | 321,315 |
Does the chromosome 21 mutation at position 46334557 within gene PCNT (pericentrin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GAAGTGGATGGTCCAGGTTCCTTTGAAGTGTGATCATTCATGTGAGCGGGCAGCTGATTGAGACTACTGTGTCCCCTTTTCGTCCCTCACTTCCTCTTGATTCTGAGAAGATTGATCTAGGGTATTGTCAAATGAAGACTTGTCTGAGATTTTATTTTCACGTCAGTTTTGCCATCATCATTGGCCATGGGTGCTCTCTCTCTGCATTCATCTTGTGACTCATCTAATGATCCCGAAAAGTCGACACTGTCATGTTTCTTTGCTATTTTGGGAAGAAATTGAAATGTTCTTAGTGAATCATCTTGTTAAAGCAAGCTAAT... | GAAGTGGATGGTCCAGGTTCCTTTGAAGTGTGATCATTCATGTGAGCGGGCAGCTGATTGAGACTACTGTGTCCCCTTTTCGTCCCTCACTTCCTCTTGATTCTGAGAAGATTGATCTAGGGTATTGTCAAATGAAGACTTGTCTGAGATTTTATTTTCACGTCAGTTTTGCCATCATCATTGGCCATGGGTGCTCTCTCTCTGCATTCATCTTGTGACTCATCTAATGATCCCGAAAAGTCGACACTGTCATGTTTCTTTGCTATTTTGGGAAGAAATTGAAATGTTCTTAGTGAATCATCTTGTTAAAGCAAGCTAAT... | benign | 321,316 |
The mutation in gene PCNT (pericentrin) at chromosome 21, position 46334557—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GAAGTGGATGGTCCAGGTTCCTTTGAAGTGTGATCATTCATGTGAGCGGGCAGCTGATTGAGACTACTGTGTCCCCTTTTCGTCCCTCACTTCCTCTTGATTCTGAGAAGATTGATCTAGGGTATTGTCAAATGAAGACTTGTCTGAGATTTTATTTTCACGTCAGTTTTGCCATCATCATTGGCCATGGGTGCTCTCTCTCTGCATTCATCTTGTGACTCATCTAATGATCCCGAAAAGTCGACACTGTCATGTTTCTTTGCTATTTTGGGAAGAAATTGAAATGTTCTTAGTGAATCATCTTGTTAAAGCAAGCTAAT... | GAAGTGGATGGTCCAGGTTCCTTTGAAGTGTGATCATTCATGTGAGCGGGCAGCTGATTGAGACTACTGTGTCCCCTTTTCGTCCCTCACTTCCTCTTGATTCTGAGAAGATTGATCTAGGGTATTGTCAAATGAAGACTTGTCTGAGATTTTATTTTCACGTCAGTTTTGCCATCATCATTGGCCATGGGTGCTCTCTCTCTGCATTCATCTTGTGACTCATCTAATGATCCCGAAAAGTCGACACTGTCATGTTTCTTTGCTATTTTGGGAAGAAATTGAAATGTTCTTAGTGAATCATCTTGTTAAAGCAAGCTAAT... | benign | 321,317 |
Determine if the mutation at chromosome 21, position 46334734 in gene PCNT (pericentrin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II'] | TCATTGGCCATGGGTGCTCTCTCTCTGCATTCATCTTGTGACTCATCTAATGATCCCGAAAAGTCGACACTGTCATGTTTCTTTGCTATTTTGGGAAGAAATTGAAATGTTCTTAGTGAATCATCTTGTTAAAGCAAGCTAATCTGGGCACTGTGGCTCATGCCTGTATTGCCAGCATTTTGGGATGCTGAGGTGGGAGGATTGCTTGAGCCCAGGATTTTGAGGCCAGCTTTGGAACATAATGAACAGAGACCCTGTCTCTACAAAAAAATAAAAAATAAGCTGGGCACAGTGGCGCATGCCAGTAGTTCCAGCTACTC... | TCATTGGCCATGGGTGCTCTCTCTCTGCATTCATCTTGTGACTCATCTAATGATCCCGAAAAGTCGACACTGTCATGTTTCTTTGCTATTTTGGGAAGAAATTGAAATGTTCTTAGTGAATCATCTTGTTAAAGCAAGCTAATCTGGGCACTGTGGCTCATGCCTGTATTGCCAGCATTTTGGGATGCTGAGGTGGGAGGATTGCTTGAGCCCAGGATTTTGAGGCCAGCTTTGGAACATAATGAACAGAGACCCTGTCTCTACAAAAAAATAAAAAATAAGCTGGGCACAGTGGCGCATGCCAGTAGTTCCAGCTACTC... | pathogenic | 321,322 |
The mutation in gene PCNT (pericentrin) at chromosome 21, position 46363456—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II'] | AAGAATACACATTCTTAACCTTGTCTTTTATCAGTACAGTCTACTAAGAGTCACCATGATGCTGCGTTGTGTAAACTGTGACCTCTAACTGCACAGGTGCTTTTGTCACCTCCCCTTCGTCTTCTGTGCTGCAGTTTTCATAGACTAGACATCACATCCGCCTCCTGCAGTGTCAGGAGATTTGCTTTGGAAAACATGTGTTTGAAAGAAATTAAGAGGAAAAATGGCCTTATACTTGCCATTTCTGGTGCTCTTCATTTCTTCTTGAAGATCTGAGTGTTTGGCGTCATTCCCTTCAGCGTGAAGGATCTCCTTCAGCA... | AAGAATACACATTCTTAACCTTGTCTTTTATCAGTACAGTCTACTAAGAGTCACCATGATGCTGCGTTGTGTAAACTGTGACCTCTAACTGCACAGGTGCTTTTGTCACCTCCCCTTCGTCTTCTGTGCTGCAGTTTTCATAGACTAGACATCACATCCGCCTCCTGCAGTGTCAGGAGATTTGCTTTGGAAAACATGTGTTTGAAAGAAATTAAGAGGAAAAATGGCCTTATACTTGCCATTTCTGGTGCTCTTCATTTCTTCTTGAAGATCTGAGTGTTTGGCGTCATTCCCTTCAGCGTGAAGGATCTCCTTCAGCA... | pathogenic | 321,359 |
Clinical significance of chromosome 21, position 46363671, gene PCNT (pericentrin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['PCNT-related_disorder'] | GAGGAAAAATGGCCTTATACTTGCCATTTCTGGTGCTCTTCATTTCTTCTTGAAGATCTGAGTGTTTGGCGTCATTCCCTTCAGCGTGAAGGATCTCCTTCAGCATCTCTTGCTGTGCTGCACACATTTTCTCCGTTTTTTGAAGTCTTTATTTTACCTTGATTCTTGAGGAGTATTTTTGTGGCATTAAAAAGTCTAAGGTGACAGGTTTCTTGTTCAGGATTTAAAGATGTTTAAAATCCTTCTCTGCAGATTTTATGATCTGTTTTGTCTTGGTGTTGGTTTCCATTGATTGTGTTTTCTCTTCAGCAGGGGTCACG... | GAGGAAAAATGGCCTTATACTTGCCATTTCTGGTGCTCTTCATTTCTTCTTGAAGATCTGAGTGTTTGGCGTCATTCCCTTCAGCGTGAAGGATCTCCTTCAGCATCTCTTGCTGTGCTGCACACATTTTCTCCGTTTTTTGAAGTCTTTATTTTACCTTGATTCTTGAGGAGTATTTTTGTGGCATTAAAAAGTCTAAGGTGACAGGTTTCTTGTTCAGGATTTAAAGATGTTTAAAATCCTTCTCTGCAGATTTTATGATCTGTTTTGTCTTGGTGTTGGTTTCCATTGATTGTGTTTTCTCTTCAGCAGGGGTCACG... | pathogenic | 321,363 |
Regarding the variant at chromosome 21 and position 46366954, affecting gene PCNT (pericentrin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II'] | GGCTTCCAGGCGCAGAGGTGCCTGTGCCTCTTGCCATCCGTCCTGTGTCGCCAGTGCCCATTGGAGGCCTTGGCATTTTGCAGGACCCTCCAGCTCCAGGCTCTTTGGCCTCCTGATGGGAGCAGGTCCTTCTGTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTT... | GGCTTCCAGGCGCAGAGGTGCCTGTGCCTCTTGCCATCCGTCCTGTGTCGCCAGTGCCCATTGGAGGCCTTGGCATTTTGCAGGACCCTCCAGCTCCAGGCTCTTTGGCCTCCTGATGGGAGCAGGTCCTTCTGTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTT... | pathogenic | 321,374 |
Variant in gene PCNT (pericentrin), located at chromosome 21 position 46366962: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II'] | GGCGCAGAGGTGCCTGTGCCTCTTGCCATCCGTCCTGTGTCGCCAGTGCCCATTGGAGGCCTTGGCATTTTGCAGGACCCTCCAGCTCCAGGCTCTTTGGCCTCCTGATGGGAGCAGGTCCTTCTGTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCG... | GGCGCAGAGGTGCCTGTGCCTCTTGCCATCCGTCCTGTGTCGCCAGTGCCCATTGGAGGCCTTGGCATTTTGCAGGACCCTCCAGCTCCAGGCTCTTTGGCCTCCTGATGGGAGCAGGTCCTTCTGTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCG... | pathogenic | 321,375 |
Considering the genetic mutation at chromosome 21, position 46366988, impacting PCNT (pericentrin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II'] | CATCCGTCCTGTGTCGCCAGTGCCCATTGGAGGCCTTGGCATTTTGCAGGACCCTCCAGCTCCAGGCTCTTTGGCCTCCTGATGGGAGCAGGTCCTTCTGTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTCCCATG... | CATCCGTCCTGTGTCGCCAGTGCCCATTGGAGGCCTTGGCATTTTGCAGGACCCTCCAGCTCCAGGCTCTTTGGCCTCCTGATGGGAGCAGGTCCTTCTGTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTCCCATG... | pathogenic | 321,377 |
For chromosome 21, position 46385939, gene PCNT (pericentrin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II'] | TTCAGTGGCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCACATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCACATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAG... | TTCAGTGGCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCACATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCACATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAG... | pathogenic | 321,394 |
Evaluate if the mutation on chromosome 21 at position 46388870 in PCNT (pericentrin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Microcephalic_osteodysplastic_primordial_dwarfism_type_II'] | CGGCACTGTGTTGCCAAACGCAGCCTCCCCTTGGTGCGCGTCCTCCCCGTCCCCTTGTGTGGGTCTTTGGCTGCTCCCATTGGCGTGTCCCCGCCCGAGGCCTCTGTGTCCTGCTGCTGCTCCCATCTGTGTGTCCCCGCTGAGGCTTCTGGGTCCAGCCACTGCTCCCGTCTGTCTGTCCCCGCCCCAGGCCTCTGAGTCCTGCTGCTGCTCCCGTCTTTGTGTCCCCACTCGAGGCCTCTGGGTTGTGCTGCTGTGTCCTGAAGCTCTGAACTGGTTTGGCTCTGCTCTGGAGACCACCCAGGGTCCGGAGACCAGGT... | CGGCACTGTGTTGCCAAACGCAGCCTCCCCTTGGTGCGCGTCCTCCCCGTCCCCTTGTGTGGGTCTTTGGCTGCTCCCATTGGCGTGTCCCCGCCCGAGGCCTCTGTGTCCTGCTGCTGCTCCCATCTGTGTGTCCCCGCTGAGGCTTCTGGGTCCAGCCACTGCTCCCGTCTGTCTGTCCCCGCCCCAGGCCTCTGAGTCCTGCTGCTGCTCCCGTCTTTGTGTCCCCACTCGAGGCCTCTGGGTTGTGCTGCTGTGTCCTGAAGCTCTGAACTGGTTTGGCTCTGCTCTGGAGACCACCCAGGGTCCGGAGACCAGGT... | pathogenic | 321,401 |
Gene PCNT (pericentrin) variant at chromosome position 46411793 on chromosome 21: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II', 'PCNT-related_disorder'] | GCCCACGCCCGGCTAATTTTTGTATTTTTACTAGAGACCAGGGTGCACCGTGTCGGCCAGGCTGATCTTGAACTCCTGTGCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGACGTGAGCCACCGCGCCCGGCCTCAGTTCACTGATTTCAGGTTTTGGTGTTTTACATTTAGAGCTACCTTCGTATGCTGGCTCCAGTATTTTAACGTGATATATGCGTTGTGATTATGACCGTCTTCAGTGCGCACCCCTTGATTCCAGTTTATTTAGTGCATTTAGGGAATGAGCAGAAGCTGCGTATAATC... | GCCCACGCCCGGCTAATTTTTGTATTTTTACTAGAGACCAGGGTGCACCGTGTCGGCCAGGCTGATCTTGAACTCCTGTGCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGACGTGAGCCACCGCGCCCGGCCTCAGTTCACTGATTTCAGGTTTTGGTGTTTTACATTTAGAGCTACCTTCGTATGCTGGCTCCAGTATTTTAACGTGATATATGCGTTGTGATTATGACCGTCTTCAGTGCGCACCCCTTGATTCCAGTTTATTTAGTGCATTTAGGGAATGAGCAGAAGCTGCGTATAATC... | pathogenic | 321,464 |
The mutation in gene PCNT (pericentrin) at chromosome 21, position 46416329—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II'] | CACGCCCAGCCTTAGATGGCACCTTTTGATGCACTGTCTGCACCTCGCCTCCTCCAGTCCAAGGCCCAGCGCAGCCTCCCTGGACACACAGCCACCCACCCTTCTCCTCCTTCTCCTCTGGGACACACATCTGTCCACCCTCCTCCTCCTCCTCCTCCTGGACACAGTCGCCCACCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCTTCCTCCTCCTTCTCGACACACAACCACCCACCCTGCTCCTCCTCCTCCTCCTCCTGGACATGCAGCCGCCCACCCTCCTCCTCCTGGACACGCAGCCGCCCACCCTG... | CACGCCCAGCCTTAGATGGCACCTTTTGATGCACTGTCTGCACCTCGCCTCCTCCAGTCCAAGGCCCAGCGCAGCCTCCCTGGACACACAGCCACCCACCCTTCTCCTCCTTCTCCTCTGGGACACACATCTGTCCACCCTCCTCCTCCTCCTCCTCCTGGACACAGTCGCCCACCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCTTCCTCCTCCTTCTCGACACACAACCACCCACCCTGCTCCTCCTCCTCCTCCTCCTGGACATGCAGCCGCCCACCCTCCTCCTCCTGGACACGCAGCCGCCCACCCTG... | pathogenic | 321,502 |
Clinical significance of chromosome 21, position 46418198, gene PCNT (pericentrin): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AACCGTTTGCTGTATTCCATGACCTTCCAGAATGTGGATGCTGCCGACACCAAATCTCTGTGGCCCATGGCCTCAGCACACCTGTTGGAGAGCAGCTGGAGTGATGATTCCTGTGACGGAGAAGAGCCTGACATATCACCCCACATAGACACATGTGATGCCAATACAGCCACGGGGGGTGTAACTGATGTTATCAAAAATCAGGCCATAGACGCGTGTGATGCCAATACAACCCCAGGGGGTGTAACTGATGTTATCAAAAATTGGGATTCCTTGATACCAGATGAAATGCCAGATTCTCCCATTCAAGAAAAATCAGA... | AACCGTTTGCTGTATTCCATGACCTTCCAGAATGTGGATGCTGCCGACACCAAATCTCTGTGGCCCATGGCCTCAGCACACCTGTTGGAGAGCAGCTGGAGTGATGATTCCTGTGACGGAGAAGAGCCTGACATATCACCCCACATAGACACATGTGATGCCAATACAGCCACGGGGGGTGTAACTGATGTTATCAAAAATCAGGCCATAGACGCGTGTGATGCCAATACAACCCCAGGGGGTGTAACTGATGTTATCAAAAATTGGGATTCCTTGATACCAGATGAAATGCCAGATTCTCCCATTCAAGAAAAATCAGA... | benign | 321,519 |
Is the variant located on chromosome 21 at position 46427743, gene PCNT (pericentrin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II'] | CCGAGGCGGTGCCCTCCCTCTCCACAGCTGCCCGCCCTTCACAGAGTCCTGGCGGCAGCTCGGGGCCGCAGGTGGTGTAGAGCGTGGCTGTGTGGGGTGGCAGGCAACTCCCTTCTGACGCGCTTTCCCGCCACAGGCTTTACTGCAGATGGTGCGTGACGAGAGCCACCAGATCCTGGCGCTGTCAGAAGGCCTTGCACCCCCAAGCGGCGAGCCACACCCACCCCGGAAGGAAGACGAGATACAGGACATCTCGCTCCATGGGGGAAAGACGCAGGTTTATTTTGCCCTTCACACACTTCTTTTCCAAAGGATTTAAG... | CCGAGGCGGTGCCCTCCCTCTCCACAGCTGCCCGCCCTTCACAGAGTCCTGGCGGCAGCTCGGGGCCGCAGGTGGTGTAGAGCGTGGCTGTGTGGGGTGGCAGGCAACTCCCTTCTGACGCGCTTTCCCGCCACAGGCTTTACTGCAGATGGTGCGTGACGAGAGCCACCAGATCCTGGCGCTGTCAGAAGGCCTTGCACCCCCAAGCGGCGAGCCACACCCACCCCGGAAGGAAGACGAGATACAGGACATCTCGCTCCATGGGGGAAAGACGCAGGTTTATTTTGCCCTTCACACACTTCTTTTCCAAAGGATTTAAG... | pathogenic | 321,544 |
Chromosome 21, position 46430158, gene PCNT (pericentrin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic | CTGGGTGGCGTTGGTGCCGTGGGGACACTGGAAATCCTGTTCCTGCCAGCATACACGAGGAAACCTAGTGTTGAGAGTAACTGGCTTGCAGGCCTCACGCAGGGTAGTGCAGCCCAGCCCTGACGCCTGCAGGCCCCAGAGCTGAGGCCCAGCAGATACTGTGCACCCATCCCAGACTCAGCAGGCTTGTCCCGGCGGAGCTGGTTTTGAGGGCGGGCAGCAGGGAAGGCCGGGGCATGGGGTGGCTGCCCAATGCTCAGGCTGCTTGTCCCATTGTGCCCCCAGGGAGACCTGCAGGAAAAGTCCCTGGAGCATCTTCG... | CTGGGTGGCGTTGGTGCCGTGGGGACACTGGAAATCCTGTTCCTGCCAGCATACACGAGGAAACCTAGTGTTGAGAGTAACTGGCTTGCAGGCCTCACGCAGGGTAGTGCAGCCCAGCCCTGACGCCTGCAGGCCCCAGAGCTGAGGCCCAGCAGATACTGTGCACCCATCCCAGACTCAGCAGGCTTGTCCCGGCGGAGCTGGTTTTGAGGGCGGGCAGCAGGGAAGGCCGGGGCATGGGGTGGCTGCCCAATGCTCAGGCTGCTTGTCCCATTGTGCCCCCAGGGAGACCTGCAGGAAAAGTCCCTGGAGCATCTTCG... | pathogenic | 321,559 |
Does the chromosome 21 mutation at position 46432047 within gene PCNT (pericentrin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['PCNT-related_disorder'] | GTCTTTCTCAGTTGAACTGCTGGCTTATAAAGTAGAGCAGGAGAAGTGCATTGCTGGTGACTTGCAGAAGACGCTGAGTGAAGAGCAAGAGAAGGCAAACAGCGTGCAGAAGCTCCTGGCGGCGGAGCAGACTGTAGTGCGAGATTTGAAGTCCGACCTCTGTGAGAGCAGGCAGAAGAGCGAACAGCTGTCCCGGTCCCTCTGCGAGGTGCAGCAGGAGGTCCTCCAGCTGAGGTGCGCCTGATCCCCCTTCCTGGGACACTGGCGGGAGTCCCCCCGTTGTGCCATGTTTTCTTGGTGATGAAGGGAGACAGAACCTC... | GTCTTTCTCAGTTGAACTGCTGGCTTATAAAGTAGAGCAGGAGAAGTGCATTGCTGGTGACTTGCAGAAGACGCTGAGTGAAGAGCAAGAGAAGGCAAACAGCGTGCAGAAGCTCCTGGCGGCGGAGCAGACTGTAGTGCGAGATTTGAAGTCCGACCTCTGTGAGAGCAGGCAGAAGAGCGAACAGCTGTCCCGGTCCCTCTGCGAGGTGCAGCAGGAGGTCCTCCAGCTGAGGTGCGCCTGATCCCCCTTCCTGGGACACTGGCGGGAGTCCCCCCGTTGTGCCATGTTTTCTTGGTGATGAAGGGAGACAGAACCTC... | pathogenic | 321,581 |
The genetic variant at chromosome 21, position 46432138, affecting gene PCNT (pericentrin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II'] | AAGGCAAACAGCGTGCAGAAGCTCCTGGCGGCGGAGCAGACTGTAGTGCGAGATTTGAAGTCCGACCTCTGTGAGAGCAGGCAGAAGAGCGAACAGCTGTCCCGGTCCCTCTGCGAGGTGCAGCAGGAGGTCCTCCAGCTGAGGTGCGCCTGATCCCCCTTCCTGGGACACTGGCGGGAGTCCCCCCGTTGTGCCATGTTTTCTTGGTGATGAAGGGAGACAGAACCTCTGGTGGGCCGCAGTTGGGCAGCCCCAGGGGCACCGCGCCCTGCTGTCCCTGGGTTGATAATCCTGTGGTGGGGGGTGAAGCACACGTGTGG... | AAGGCAAACAGCGTGCAGAAGCTCCTGGCGGCGGAGCAGACTGTAGTGCGAGATTTGAAGTCCGACCTCTGTGAGAGCAGGCAGAAGAGCGAACAGCTGTCCCGGTCCCTCTGCGAGGTGCAGCAGGAGGTCCTCCAGCTGAGGTGCGCCTGATCCCCCTTCCTGGGACACTGGCGGGAGTCCCCCCGTTGTGCCATGTTTTCTTGGTGATGAAGGGAGACAGAACCTCTGGTGGGCCGCAGTTGGGCAGCCCCAGGGGCACCGCGCCCTGCTGTCCCTGGGTTGATAATCCTGTGGTGGGGGGTGAAGCACACGTGTGG... | pathogenic | 321,584 |
The mutation impacting PCNT (pericentrin) on chromosome 21 at position 46432237: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCCCGGTCCCTCTGCGAGGTGCAGCAGGAGGTCCTCCAGCTGAGGTGCGCCTGATCCCCCTTCCTGGGACACTGGCGGGAGTCCCCCCGTTGTGCCATGTTTTCTTGGTGATGAAGGGAGACAGAACCTCTGGTGGGCCGCAGTTGGGCAGCCCCAGGGGCACCGCGCCCTGCTGTCCCTGGGTTGATAATCCTGTGGTGGGGGGTGAAGCACACGTGTGGGACCTGGCAGGGCTCTGCCTCCCCTCCTGGAGCTCCCAGCCCCCGGGAACACACTCTGGCCCACGTGGTCAGATTGTTCTGCGATGTCTCCACGCAGAT... | TCCCGGTCCCTCTGCGAGGTGCAGCAGGAGGTCCTCCAGCTGAGGTGCGCCTGATCCCCCTTCCTGGGACACTGGCGGGAGTCCCCCCGTTGTGCCATGTTTTCTTGGTGATGAAGGGAGACAGAACCTCTGGTGGGCCGCAGTTGGGCAGCCCCAGGGGCACCGCGCCCTGCTGTCCCTGGGTTGATAATCCTGTGGTGGGGGGTGAAGCACACGTGTGGGACCTGGCAGGGCTCTGCCTCCCCTCCTGGAGCTCCCAGCCCCCGGGAACACACTCTGGCCCACGTGGTCAGATTGTTCTGCGATGTCTCCACGCAGAT... | benign | 321,586 |
Mutation found at chromosome 21 position 46436019, gene PCNT (pericentrin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II', 'PCNT-related_disorder'] | TTTACCACATTGGTCAGGCTGGTCTTGAACTCCTGACCTTGTGATTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGATTACAGGCGTGAGCCACTGTGCCCGGCCTCCAGAGTGTTTTTTACTGAGGATAGTGAATTTGATCTGGATTATAGAACCCTTCTCTAGCTGTAGCCATGGAAGCCTCCCAAGATAGTGGCATGCTGGATACAATTCCATCTTTTCTAAATAATACAATCTCATTAGTTCCTCTGTATCTTACTTTCCTTACTAGAAAATAGAAAAGATACTCATTCCTGTTTAAGAGGCCCGAGCATTGAG... | TTTACCACATTGGTCAGGCTGGTCTTGAACTCCTGACCTTGTGATTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGATTACAGGCGTGAGCCACTGTGCCCGGCCTCCAGAGTGTTTTTTACTGAGGATAGTGAATTTGATCTGGATTATAGAACCCTTCTCTAGCTGTAGCCATGGAAGCCTCCCAAGATAGTGGCATGCTGGATACAATTCCATCTTTTCTAAATAATACAATCTCATTAGTTCCTCTGTATCTTACTTTCCTTACTAGAAAATAGAAAAGATACTCATTCCTGTTTAAGAGGCCCGAGCATTGAG... | pathogenic | 321,591 |
Considering the variant on chromosome 21, location 46440991, involving gene PCNT (pericentrin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II'] | ACAGACATGAGCCACCGTGCCCGGCCTAAAGTGACTTATAATTTTCATAATGGTATAGTTGGATAGAGTTATCTTCCGGAATGTCTCATTTTTTTTTCTTTTGTATTTAGGCTATTTTGTTTGTGATTTGCTTTATTTTTTATAACTTTTTAAAAATTATTTTTAAATTTACATACAGTAAAATTTGCCCTTTCCTGGTGTAGTGTCATACAAGTTCACACACACACACATCCCTGTAACCTTCATAAGTAACCACCATTCACAGAGCACACAGCGATGGCCCCCCCAAAAAGAGCAGCAGGCATCTCCGCCTGCCACAG... | ACAGACATGAGCCACCGTGCCCGGCCTAAAGTGACTTATAATTTTCATAATGGTATAGTTGGATAGAGTTATCTTCCGGAATGTCTCATTTTTTTTTCTTTTGTATTTAGGCTATTTTGTTTGTGATTTGCTTTATTTTTTATAACTTTTTAAAAATTATTTTTAAATTTACATACAGTAAAATTTGCCCTTTCCTGGTGTAGTGTCATACAAGTTCACACACACACACATCCCTGTAACCTTCATAAGTAACCACCATTCACAGAGCACACAGCGATGGCCCCCCCAAAAAGAGCAGCAGGCATCTCCGCCTGCCACAG... | pathogenic | 321,614 |
Is the genetic change at chromosome 21, position 46443854, within gene PCNT (pericentrin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II'] | AAGGCAGTGGTGTCCCAGAAAGGAGCAGTCTCTGTGTCCCTGTGAGGGCACTGCCTAGGGTAGCTGCCACCAAGGGGCCTTGACAGGTCTTATGGAGGAATCGGCAGTGTCTGCTATGCCTCAAAGGAGGGAAGCCACAGGCATGATGCTTGTTCCGAAGGCCATCCTAGCAGGGCGTCTGGGGCCCTGCACACTGACCTGCATGCCCTCGTCACCTGCACTCTGCATGCTCACCATCTGACGGACTCCTGCGAGGGCTGGGGTCTCCGTGTTCTGAGCCTGTCCAGTGGCATCTGTGACAGGATGAAGATGGGAGGGTC... | AAGGCAGTGGTGTCCCAGAAAGGAGCAGTCTCTGTGTCCCTGTGAGGGCACTGCCTAGGGTAGCTGCCACCAAGGGGCCTTGACAGGTCTTATGGAGGAATCGGCAGTGTCTGCTATGCCTCAAAGGAGGGAAGCCACAGGCATGATGCTTGTTCCGAAGGCCATCCTAGCAGGGCGTCTGGGGCCCTGCACACTGACCTGCATGCCCTCGTCACCTGCACTCTGCATGCTCACCATCTGACGGACTCCTGCGAGGGCTGGGGTCTCCGTGTTCTGAGCCTGTCCAGTGGCATCTGTGACAGGATGAAGATGGGAGGGTC... | pathogenic | 321,627 |
Gene PCNT (pericentrin) variant at chromosome position 46444720 on chromosome 21: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II', 'PCNT-related_disorder'] | GTAATAAAGCACGGTAAGAAAATCCGTGAATTCCGTCAGAGCAGTCGTCCAGAGGGAAGGCGCGCCCGGCGTAGGGAGGTCAGAGCTCATGTTAGCTATGAACACAGGTCACAGGGGCGTACGGCGATGGGAAACACTGAGATGCTCAATATATTGATTATTTAATAGTGTTTAGCAAAATGGTCTTTTTTTATTCCTTAAATCAACTGAAACTCACTTCACGTCTCTTTCCTTGTAGAGCATCATGCTTATTTCTGGCTCACTCACATCTTTGTCTCGGGAGTTCTCTGCCGAGCCATTGCCCCCTACAGCAGAGAGCA... | GTAATAAAGCACGGTAAGAAAATCCGTGAATTCCGTCAGAGCAGTCGTCCAGAGGGAAGGCGCGCCCGGCGTAGGGAGGTCAGAGCTCATGTTAGCTATGAACACAGGTCACAGGGGCGTACGGCGATGGGAAACACTGAGATGCTCAATATATTGATTATTTAATAGTGTTTAGCAAAATGGTCTTTTTTTATTCCTTAAATCAACTGAAACTCACTTCACGTCTCTTTCCTTGTAGAGCATCATGCTTATTTCTGGCTCACTCACATCTTTGTCTCGGGAGTTCTCTGCCGAGCCATTGCCCCCTACAGCAGAGAGCA... | pathogenic | 321,630 |
Evaluate this variant at chromosome 22, position 17181858, gene ADA2 (adenosine deaminase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autoinflammatory_syndrome', 'Sneddon_syndrome', 'Vasculitis_due_to_ADA2_deficiency'] | GAGTGACCTGATTTAATTTGATCTTTTAAAAGTCATTCTAGGCCAGGCCGGGTGGCTCACGCCTGTAATCCCAGTGCTTTGGGAGGCCGAGGCGGGTGGACCACGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCGCTGCACTCCACCCTGGGCAACAGAGCGAGACTCCATCT... | GAGTGACCTGATTTAATTTGATCTTTTAAAAGTCATTCTAGGCCAGGCCGGGTGGCTCACGCCTGTAATCCCAGTGCTTTGGGAGGCCGAGGCGGGTGGACCACGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCGCTGCACTCCACCCTGGGCAACAGAGCGAGACTCCATCT... | pathogenic | 321,710 |
The genetic variant at chromosome 22, position 17182776, affecting gene ADA2 (adenosine deaminase 2): benign or pathogenic? Disease name(s) if pathogenic? | benign | TAAATAAATGTGGGAATCATTAACAAATAAATGGTATGAAAAAGCAAAGGAATGGATGAGACCACCCAGGAAAAGTGTACAGAGAGAGAAGAGAAATAAAGAGGAGAGAGTTAAAGAGACCAGAATAGGCCAGGCATGGTGGCTAATGCCTGTAATTCCAGCACTTTGGGAGCCAAGGGGCGAGTGGATCACCTGAGGTCAAGAGTTGGATACCAGCCTCGCCAACATGGTGAAAACCTGTCTCTACTAAAAATGCAAAAATCAGCTGGGTGTGGTGGCACATGCCTATAATTCCAACTACTCGCGAGGCTGATGCAAGA... | TAAATAAATGTGGGAATCATTAACAAATAAATGGTATGAAAAAGCAAAGGAATGGATGAGACCACCCAGGAAAAGTGTACAGAGAGAGAAGAGAAATAAAGAGGAGAGAGTTAAAGAGACCAGAATAGGCCAGGCATGGTGGCTAATGCCTGTAATTCCAGCACTTTGGGAGCCAAGGGGCGAGTGGATCACCTGAGGTCAAGAGTTGGATACCAGCCTCGCCAACATGGTGAAAACCTGTCTCTACTAAAAATGCAAAAATCAGCTGGGTGTGGTGGCACATGCCTATAATTCCAACTACTCGCGAGGCTGATGCAAGA... | benign | 321,720 |
Is the genetic change at chromosome 22, position 17189972, within gene ADA2 (adenosine deaminase 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Sneddon_syndrome', 'Vasculitis_due_to_ADA2_deficiency'] | GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAGTACCAGCTACTTGGAAGGCTGAGGCAGGAGACTCTCTTGAACCTGGGAAGCCGAGGTTGCAGTGAGCTGGGCGACAGAGGGAGACTCCGTAAAAAAAAGAAAAAAAAAGAAGAAGAAGAAAAGAAAACAGGAAGGAAAGAAGAAAGAGAAACTAGAAATAATACATGTAAAGTGGCTGATTCTATTATCCTTGTTATTCCTTCTCCATGGGGCTGTTGTCAGGATTAAGTGAGATAGAGCACAGGAAAGGGCTCTGGAA... | GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAGTACCAGCTACTTGGAAGGCTGAGGCAGGAGACTCTCTTGAACCTGGGAAGCCGAGGTTGCAGTGAGCTGGGCGACAGAGGGAGACTCCGTAAAAAAAAGAAAAAAAAAGAAGAAGAAGAAAAGAAAACAGGAAGGAAAGAAGAAAGAGAAACTAGAAATAATACATGTAAAGTGGCTGATTCTATTATCCTTGTTATTCCTTCTCCATGGGGCTGTTGTCAGGATTAAGTGAGATAGAGCACAGGAAAGGGCTCTGGAA... | pathogenic | 321,739 |
Is the chromosome 22, position 17190042 variant in ADA2 (adenosine deaminase 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CTTGGAAGGCTGAGGCAGGAGACTCTCTTGAACCTGGGAAGCCGAGGTTGCAGTGAGCTGGGCGACAGAGGGAGACTCCGTAAAAAAAAGAAAAAAAAAGAAGAAGAAGAAAAGAAAACAGGAAGGAAAGAAGAAAGAGAAACTAGAAATAATACATGTAAAGTGGCTGATTCTATTATCCTTGTTATTCCTTCTCCATGGGGCTGTTGTCAGGATTAAGTGAGATAGAGCACAGGAAAGGGCTCTGGAAACGCCTGTAGGCTCTAACCCTGAGGCATGGGCCTGTGGCCAGGAGCTCTCCCATTGACCACCTCCGCTGC... | CTTGGAAGGCTGAGGCAGGAGACTCTCTTGAACCTGGGAAGCCGAGGTTGCAGTGAGCTGGGCGACAGAGGGAGACTCCGTAAAAAAAAGAAAAAAAAAGAAGAAGAAGAAAAGAAAACAGGAAGGAAAGAAGAAAGAGAAACTAGAAATAATACATGTAAAGTGGCTGATTCTATTATCCTTGTTATTCCTTCTCCATGGGGCTGTTGTCAGGATTAAGTGAGATAGAGCACAGGAAAGGGCTCTGGAAACGCCTGTAGGCTCTAACCCTGAGGCATGGGCCTGTGGCCAGGAGCTCTCCCATTGACCACCTCCGCTGC... | benign | 321,742 |
Determine if the mutation at chromosome 22, position 17191821 in gene ADA2 (adenosine deaminase 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CGCTGAGCTCTGAGCAGCCCTGCTGTGTCAGCAGCCTGAGCCTGCCCTGGGATGTCAGGGTACCAACAGGCACATTGCGCTCCCTTCCCAGGGAGTTGCCGCTCCACCCAGACAGGCATCCTCGCATGCCCCCTTAACAGGCAGCCCTTCTGTTCACAGCATGGGTTACCAGGTCAAACCCTGCCACCACCGTGGGGAACTTGATTCGGAGCCCCATGGCCATTCGGATGGATTCTGCGATGACAGCCACATCTTTGGATCTGTGAGACAGACAGAGAAGCCAGGAGACAGTGCCCAGCACCGACAGAGCACAAACCCCA... | CGCTGAGCTCTGAGCAGCCCTGCTGTGTCAGCAGCCTGAGCCTGCCCTGGGATGTCAGGGTACCAACAGGCACATTGCGCTCCCTTCCCAGGGAGTTGCCGCTCCACCCAGACAGGCATCCTCGCATGCCCCCTTAACAGGCAGCCCTTCTGTTCACAGCATGGGTTACCAGGTCAAACCCTGCCACCACCGTGGGGAACTTGATTCGGAGCCCCATGGCCATTCGGATGGATTCTGCGATGACAGCCACATCTTTGGATCTGTGAGACAGACAGAGAAGCCAGGAGACAGTGCCCAGCACCGACAGAGCACAAACCCCA... | benign | 321,749 |
Variant on chromosome 22, at position 17199694, affecting ADA2 (adenosine deaminase 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CAGGCATATGCAGGGGGCTTTATGCCATAATCTCATTTAACCCTCAAAACTACACTATGAGGTAGGTCTCATTTTACAGATAAGGATTTTGAGGCTTTAAAAGTTTGAGAAGGCTGAGCACGGTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCACGAATTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGAAAATTAGCCGGGTGTGGTGGCACATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGG... | CAGGCATATGCAGGGGGCTTTATGCCATAATCTCATTTAACCCTCAAAACTACACTATGAGGTAGGTCTCATTTTACAGATAAGGATTTTGAGGCTTTAAAAGTTTGAGAAGGCTGAGCACGGTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCACGAATTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGAAAATTAGCCGGGTGTGGTGGCACATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGG... | benign | 321,752 |
Determine whether the variant at chromosome 22, position 17203651, in gene ADA2 (adenosine deaminase 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Sneddon_syndrome', 'Vasculitis_due_to_ADA2_deficiency'] | GTCTGAGCTCACCACATAAAACACCCAAGGATCCTGCCCACTCCCACAATACCCCATCTCCCTCAGCCCAACAAAAACATCCTCAGGAAAGTTCTCTCCAATAAACTCACTGAAATAAAACTCTAGCAGTATTTGAGCACCTAGGGCTGCTCTCCTCGAAAGATCCCTCCCCTACCAACACGGAGCCTGGTGTCAGTCCATCTCAGAGTACCTAACCTCAGTTATCCTTTGCTTCTGGCCAAAATGCAAGACCCAAAAATCAGATTTTTTTGATGATGCTCCCTTCTTTTGGACTCTTTCTACTCCTTTCCATTTCACTC... | GTCTGAGCTCACCACATAAAACACCCAAGGATCCTGCCCACTCCCACAATACCCCATCTCCCTCAGCCCAACAAAAACATCCTCAGGAAAGTTCTCTCCAATAAACTCACTGAAATAAAACTCTAGCAGTATTTGAGCACCTAGGGCTGCTCTCCTCGAAAGATCCCTCCCCTACCAACACGGAGCCTGGTGTCAGTCCATCTCAGAGTACCTAACCTCAGTTATCCTTTGCTTCTGGCCAAAATGCAAGACCCAAAAATCAGATTTTTTTGATGATGCTCCCTTCTTTTGGACTCTTTCTACTCCTTTCCATTTCACTC... | pathogenic | 321,759 |
A genetic alteration at chromosome 22, position 17209533, in gene ADA2 (adenosine deaminase 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Sneddon_syndrome', 'Splenomegaly', 'Vasculitis_due_to_ADA2_deficiency'] | TGGGGACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACA... | TGGGGACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACA... | pathogenic | 321,771 |
Does the genetic variant at chromosome 22, position 17209533, impacting gene ADA2 (adenosine deaminase 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Sneddon_syndrome', 'Vasculitis_due_to_ADA2_deficiency'] | TGGGGACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACA... | TGGGGACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACA... | pathogenic | 321,772 |
Is chromosome 22, position 17594620, gene ATP6V1E1 (ATPase H+ transporting V1 subunit E1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GGCAGTGAAGAGGAAGCTACAGAGACATTCGTGTTTCTTCAAATATCAGAAGCTTCCACATCACAGCAGGAGAGCTGACGACGAGCTCCACCTCCTGAAGGCTTAGTCCAAAAACTTCCTGTTGGCATTTGCACCAAACAAGGCTCCCCGGACTTCTGGCATCATCTGTGGAGAGAAAGTGTAATAAATACGCAATGTCAGCTGAAGAAGTTGTAGAGCGCTGCACATCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCATCTCCGCTCATTGCAAGCTCACGCC... | GGCAGTGAAGAGGAAGCTACAGAGACATTCGTGTTTCTTCAAATATCAGAAGCTTCCACATCACAGCAGGAGAGCTGACGACGAGCTCCACCTCCTGAAGGCTTAGTCCAAAAACTTCCTGTTGGCATTTGCACCAAACAAGGCTCCCCGGACTTCTGGCATCATCTGTGGAGAGAAAGTGTAATAAATACGCAATGTCAGCTGAAGAAGTTGTAGAGCGCTGCACATCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCATCTCCGCTCATTGCAAGCTCACGCC... | benign | 321,801 |
Chromosome 22, position 17594620, gene ATP6V1E1 (ATPase H+ transporting V1 subunit E1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GGCAGTGAAGAGGAAGCTACAGAGACATTCGTGTTTCTTCAAATATCAGAAGCTTCCACATCACAGCAGGAGAGCTGACGACGAGCTCCACCTCCTGAAGGCTTAGTCCAAAAACTTCCTGTTGGCATTTGCACCAAACAAGGCTCCCCGGACTTCTGGCATCATCTGTGGAGAGAAAGTGTAATAAATACGCAATGTCAGCTGAAGAAGTTGTAGAGCGCTGCACATCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCATCTCCGCTCATTGCAAGCTCACGCC... | GGCAGTGAAGAGGAAGCTACAGAGACATTCGTGTTTCTTCAAATATCAGAAGCTTCCACATCACAGCAGGAGAGCTGACGACGAGCTCCACCTCCTGAAGGCTTAGTCCAAAAACTTCCTGTTGGCATTTGCACCAAACAAGGCTCCCCGGACTTCTGGCATCATCTGTGGAGAGAAAGTGTAATAAATACGCAATGTCAGCTGAAGAAGTTGTAGAGCGCTGCACATCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCATCTCCGCTCATTGCAAGCTCACGCC... | benign | 321,802 |
Determine if the mutation at chromosome 22, position 18078398 in gene PEX26 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Peroxisome_biogenesis_disorder_7A_(Zellweger)', 'Peroxisome_biogenesis_disorder_7B'] | CTTAATGCGCATGGCGCTTTATGCGCAATATTACTTAATTCTTCCCTCAGCCATTGGGAGCTAAGGACAAACTGTTATCCCAATTTTACAGGTGAGGAAATCAGAGCTTATTTAAATAAATTGCCGAGGTCACACAACTAGTAAGCGACAAAATCTCAGTCAAACCGAGGCTCTTTTGGTTCAAAGATGTGTATTGAGCTCTACTCTGCTCTGCAGGGACAGAACTAAGTATGTTTGCTATTCAGGGGATACACAGTCATTCCATGAGCAAGTTACACAATGTAAAATAAGGACATTGTGAAAAACAAAACCATACCGTA... | CTTAATGCGCATGGCGCTTTATGCGCAATATTACTTAATTCTTCCCTCAGCCATTGGGAGCTAAGGACAAACTGTTATCCCAATTTTACAGGTGAGGAAATCAGAGCTTATTTAAATAAATTGCCGAGGTCACACAACTAGTAAGCGACAAAATCTCAGTCAAACCGAGGCTCTTTTGGTTCAAAGATGTGTATTGAGCTCTACTCTGCTCTGCAGGGACAGAACTAAGTATGTTTGCTATTCAGGGGATACACAGTCATTCCATGAGCAAGTTACACAATGTAAAATAAGGACATTGTGAAAAACAAAACCATACCGTA... | pathogenic | 321,854 |
For chromosome 22, position 18078404, gene PEX26 (peroxisomal biogenesis factor 26): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_7A_(Zellweger)', 'Peroxisome_biogenesis_disorder_7B'] | GCGCATGGCGCTTTATGCGCAATATTACTTAATTCTTCCCTCAGCCATTGGGAGCTAAGGACAAACTGTTATCCCAATTTTACAGGTGAGGAAATCAGAGCTTATTTAAATAAATTGCCGAGGTCACACAACTAGTAAGCGACAAAATCTCAGTCAAACCGAGGCTCTTTTGGTTCAAAGATGTGTATTGAGCTCTACTCTGCTCTGCAGGGACAGAACTAAGTATGTTTGCTATTCAGGGGATACACAGTCATTCCATGAGCAAGTTACACAATGTAAAATAAGGACATTGTGAAAAACAAAACCATACCGTACATAAT... | GCGCATGGCGCTTTATGCGCAATATTACTTAATTCTTCCCTCAGCCATTGGGAGCTAAGGACAAACTGTTATCCCAATTTTACAGGTGAGGAAATCAGAGCTTATTTAAATAAATTGCCGAGGTCACACAACTAGTAAGCGACAAAATCTCAGTCAAACCGAGGCTCTTTTGGTTCAAAGATGTGTATTGAGCTCTACTCTGCTCTGCAGGGACAGAACTAAGTATGTTTGCTATTCAGGGGATACACAGTCATTCCATGAGCAAGTTACACAATGTAAAATAAGGACATTGTGAAAAACAAAACCATACCGTACATAAT... | pathogenic | 321,855 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 18078404, gene PEX26 (peroxisomal biogenesis factor 26). What disease(s) is it linked to if pathogenic? | pathogenic; ['Peroxisome_biogenesis_disorder_7A_(Zellweger)'] | GCGCATGGCGCTTTATGCGCAATATTACTTAATTCTTCCCTCAGCCATTGGGAGCTAAGGACAAACTGTTATCCCAATTTTACAGGTGAGGAAATCAGAGCTTATTTAAATAAATTGCCGAGGTCACACAACTAGTAAGCGACAAAATCTCAGTCAAACCGAGGCTCTTTTGGTTCAAAGATGTGTATTGAGCTCTACTCTGCTCTGCAGGGACAGAACTAAGTATGTTTGCTATTCAGGGGATACACAGTCATTCCATGAGCAAGTTACACAATGTAAAATAAGGACATTGTGAAAAACAAAACCATACCGTACATAAT... | GCGCATGGCGCTTTATGCGCAATATTACTTAATTCTTCCCTCAGCCATTGGGAGCTAAGGACAAACTGTTATCCCAATTTTACAGGTGAGGAAATCAGAGCTTATTTAAATAAATTGCCGAGGTCACACAACTAGTAAGCGACAAAATCTCAGTCAAACCGAGGCTCTTTTGGTTCAAAGATGTGTATTGAGCTCTACTCTGCTCTGCAGGGACAGAACTAAGTATGTTTGCTATTCAGGGGATACACAGTCATTCCATGAGCAAGTTACACAATGTAAAATAAGGACATTGTGAAAAACAAAACCATACCGTACATAAT... | pathogenic | 321,856 |
Is the genetic variant on chromosome 22, position 18078563, gene PEX26 (peroxisomal biogenesis factor 26), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['PEX26-related_disorder', 'Peroxisome_biogenesis_disorder_7A_(Zellweger)', 'Peroxisome_biogenesis_disorder_7B'] | CGAGGCTCTTTTGGTTCAAAGATGTGTATTGAGCTCTACTCTGCTCTGCAGGGACAGAACTAAGTATGTTTGCTATTCAGGGGATACACAGTCATTCCATGAGCAAGTTACACAATGTAAAATAAGGACATTGTGAAAAACAAAACCATACCGTACATAATGCACTTTATAGTAAAGTACTGGGAACAGAGTATTTGGTAAATTGTAACTATAATAATAATTTTAAACAGATCCACAAATCACACTTATTATTATATTCTGTTTCACCCGGGCTTTGCCAAGCTTCCCACATTTGTACTAGATCCTCTTGGCTTTAGTTT... | CGAGGCTCTTTTGGTTCAAAGATGTGTATTGAGCTCTACTCTGCTCTGCAGGGACAGAACTAAGTATGTTTGCTATTCAGGGGATACACAGTCATTCCATGAGCAAGTTACACAATGTAAAATAAGGACATTGTGAAAAACAAAACCATACCGTACATAATGCACTTTATAGTAAAGTACTGGGAACAGAGTATTTGGTAAATTGTAACTATAATAATAATTTTAAACAGATCCACAAATCACACTTATTATTATATTCTGTTTCACCCGGGCTTTGCCAAGCTTCCCACATTTGTACTAGATCCTCTTGGCTTTAGTTT... | pathogenic | 321,859 |
For chromosome 22, position 18079896, gene PEX26 (peroxisomal biogenesis factor 26): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Peroxisome_biogenesis_disorder_7A_(Zellweger)', 'Peroxisome_biogenesis_disorder_7B'] | CTCACGGCACAGGGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTA... | CTCACGGCACAGGGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTA... | pathogenic | 321,863 |
Is the genetic variant on chromosome 22, position 18079971, gene PEX26 (peroxisomal biogenesis factor 26), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Peroxisome_biogenesis_disorder_7A_(Zellweger)', 'Peroxisome_biogenesis_disorder_7B'] | ACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATC... | ACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATC... | pathogenic | 321,866 |
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