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 |
|---|---|---|---|---|---|
Chromosome 3, position 14156469, gene XPC (XPC complex subunit, DNA damage recognition and repair factor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | GCACAAACAAAATGTGGTCCACCCACACAATGGAGTATCAGCCTAAAAAGGAAGGAAATTCTGACCCATGCTACAATATGGATGAACCCTGAGGCATTATGCTAAGTGAAATAAGCCAGTCACGATGTGACTATAAATACCGCATGATTCCACCTACATGGGTCCCTATAGTAGGCACACTCAGAGACAGAAAGGAGAATGGTGGGTGCAGGGCTGGAGAAGGGGAATTCGGAGTTTTTGATGGGGACGGAGTTTTGGTTTGGGAAGAGGAAAAGAAATCTGGAGATGGATGGTGGTGATGGCTGGATGACAGTGTGAAT... | GCACAAACAAAATGTGGTCCACCCACACAATGGAGTATCAGCCTAAAAAGGAAGGAAATTCTGACCCATGCTACAATATGGATGAACCCTGAGGCATTATGCTAAGTGAAATAAGCCAGTCACGATGTGACTATAAATACCGCATGATTCCACCTACATGGGTCCCTATAGTAGGCACACTCAGAGACAGAAAGGAGAATGGTGGGTGCAGGGCTGGAGAAGGGGAATTCGGAGTTTTTGATGGGGACGGAGTTTTGGTTTGGGAAGAGGAAAAGAAATCTGGAGATGGATGGTGGTGATGGCTGGATGACAGTGTGAAT... | pathogenic | 62,458 |
Benign or pathogenic: chromosome 3, position 14158131, gene XPC (XPC complex subunit, DNA damage recognition and repair factor) variant? Disease(s) if pathogenic? | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | ATTTTATTTTTCCTACTTTGTATTTTATTTTCCCTGTAACTGTTTTTCCCCTGCCATTCTTTTAATCCCTGTTTTAATTTTCAAATTTTCTTCTCTCCTACACATCACACACACACAGCACACGCACACTGGCTCAGCCCGAGAATGCTGTCCAGTCAGATGAGCTCCCATCAGCAACCCTTGCCTAGGAAGAAGGCTGCTAATCCCATGCCATCAGGAAGCCCCTGAGGCCAACCAGGCTGCCTCACGCACCTGGAGTAGACCGCTTCTCCACGACAATACCCAAGGATGGCAGCTGTCTCGGGATAGATGGCCTCATA... | ATTTTATTTTTCCTACTTTGTATTTTATTTTCCCTGTAACTGTTTTTCCCCTGCCATTCTTTTAATCCCTGTTTTAATTTTCAAATTTTCTTCTCTCCTACACATCACACACACACAGCACACGCACACTGGCTCAGCCCGAGAATGCTGTCCAGTCAGATGAGCTCCCATCAGCAACCCTTGCCTAGGAAGAAGGCTGCTAATCCCATGCCATCAGGAAGCCCCTGAGGCCAACCAGGCTGCCTCACGCACCTGGAGTAGACCGCTTCTCCACGACAATACCCAAGGATGGCAGCTGTCTCGGGATAGATGGCCTCATA... | pathogenic | 62,466 |
Clinical classification of chromosome 3, position 14158196, gene XPC (XPC complex subunit, DNA damage recognition and repair factor): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | TCCCTGTTTTAATTTTCAAATTTTCTTCTCTCCTACACATCACACACACACAGCACACGCACACTGGCTCAGCCCGAGAATGCTGTCCAGTCAGATGAGCTCCCATCAGCAACCCTTGCCTAGGAAGAAGGCTGCTAATCCCATGCCATCAGGAAGCCCCTGAGGCCAACCAGGCTGCCTCACGCACCTGGAGTAGACCGCTTCTCCACGACAATACCCAAGGATGGCAGCTGTCTCGGGATAGATGGCCTCATATTTCAGGAGATGCCGCTTCAGGGCATACAGAGGGTGGTTCTTATATAAGCCAATGGCAGTGGGCA... | TCCCTGTTTTAATTTTCAAATTTTCTTCTCTCCTACACATCACACACACACAGCACACGCACACTGGCTCAGCCCGAGAATGCTGTCCAGTCAGATGAGCTCCCATCAGCAACCCTTGCCTAGGAAGAAGGCTGCTAATCCCATGCCATCAGGAAGCCCCTGAGGCCAACCAGGCTGCCTCACGCACCTGGAGTAGACCGCTTCTCCACGACAATACCCAAGGATGGCAGCTGTCTCGGGATAGATGGCCTCATATTTCAGGAGATGCCGCTTCAGGGCATACAGAGGGTGGTTCTTATATAAGCCAATGGCAGTGGGCA... | pathogenic | 62,471 |
Variant at chromosome position 14158238, chromosome 3, gene XPC (XPC complex subunit, DNA damage recognition and repair factor): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; [, 'XPC-related_disorder', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_C'] | CACACACACAGCACACGCACACTGGCTCAGCCCGAGAATGCTGTCCAGTCAGATGAGCTCCCATCAGCAACCCTTGCCTAGGAAGAAGGCTGCTAATCCCATGCCATCAGGAAGCCCCTGAGGCCAACCAGGCTGCCTCACGCACCTGGAGTAGACCGCTTCTCCACGACAATACCCAAGGATGGCAGCTGTCTCGGGATAGATGGCCTCATATTTCAGGAGATGCCGCTTCAGGGCATACAGAGGGTGGTTCTTATATAAGCCAATGGCAGTGGGCAAAGGCTGGTCCATGTGTTTAGCCTGAAACTGCAAAGGCCAGA... | CACACACACAGCACACGCACACTGGCTCAGCCCGAGAATGCTGTCCAGTCAGATGAGCTCCCATCAGCAACCCTTGCCTAGGAAGAAGGCTGCTAATCCCATGCCATCAGGAAGCCCCTGAGGCCAACCAGGCTGCCTCACGCACCTGGAGTAGACCGCTTCTCCACGACAATACCCAAGGATGGCAGCTGTCTCGGGATAGATGGCCTCATATTTCAGGAGATGCCGCTTCAGGGCATACAGAGGGTGGTTCTTATATAAGCCAATGGCAGTGGGCAAAGGCTGGTCCATGTGTTTAGCCTGAAACTGCAAAGGCCAGA... | pathogenic | 62,475 |
Evaluate the clinical significance of the mutation at chromosome 3, position 14158461 in gene XPC (XPC complex subunit, DNA damage recognition and repair factor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | TGCCGCTTCAGGGCATACAGAGGGTGGTTCTTATATAAGCCAATGGCAGTGGGCAAAGGCTGGTCCATGTGTTTAGCCTGAAACTGCAAAGGCCAGACAGACAAGGTTGAGCATGTTATTTAGAAGAGGAAATGAAGTTTGAGGGAGATGATCCTTAGACTAACTTGTTCTGACAACAGATGGTGGAGCCAAGGTTTCATGAACACTAATGGTTTTGTAACATCGCATCTGTACCTCCGGCCAGTAAGTCAGTTACAGATCAATCAAAAGCTTTAAAGAATCAAATAAATCTGTGGCTTGTGGCAACTTCAAAAAGTTGT... | TGCCGCTTCAGGGCATACAGAGGGTGGTTCTTATATAAGCCAATGGCAGTGGGCAAAGGCTGGTCCATGTGTTTAGCCTGAAACTGCAAAGGCCAGACAGACAAGGTTGAGCATGTTATTTAGAAGAGGAAATGAAGTTTGAGGGAGATGATCCTTAGACTAACTTGTTCTGACAACAGATGGTGGAGCCAAGGTTTCATGAACACTAATGGTTTTGTAACATCGCATCTGTACCTCCGGCCAGTAAGTCAGTTACAGATCAATCAAAAGCTTTAAAGAATCAAATAAATCTGTGGCTTGTGGCAACTTCAAAAAGTTGT... | pathogenic | 62,482 |
Regarding the variant at chromosome 3 and position 14158576, affecting gene XPC (XPC complex subunit, DNA damage recognition and repair factor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | TTATTTAGAAGAGGAAATGAAGTTTGAGGGAGATGATCCTTAGACTAACTTGTTCTGACAACAGATGGTGGAGCCAAGGTTTCATGAACACTAATGGTTTTGTAACATCGCATCTGTACCTCCGGCCAGTAAGTCAGTTACAGATCAATCAAAAGCTTTAAAGAATCAAATAAATCTGTGGCTTGTGGCAACTTCAAAAAGTTGTCTAACCTATTTGAATGCTTAGACACCTAACCCAGCCCCAGCAGATGTGTTAAAGGTCTGCAAGGAAGAAAAACACACAGTGCTCTTCAGTAAGAAGGTCTTATTTCAAAGGGACA... | TTATTTAGAAGAGGAAATGAAGTTTGAGGGAGATGATCCTTAGACTAACTTGTTCTGACAACAGATGGTGGAGCCAAGGTTTCATGAACACTAATGGTTTTGTAACATCGCATCTGTACCTCCGGCCAGTAAGTCAGTTACAGATCAATCAAAAGCTTTAAAGAATCAAATAAATCTGTGGCTTGTGGCAACTTCAAAAAGTTGTCTAACCTATTTGAATGCTTAGACACCTAACCCAGCCCCAGCAGATGTGTTAAAGGTCTGCAAGGAAGAAAAACACACAGTGCTCTTCAGTAAGAAGGTCTTATTTCAAAGGGACA... | pathogenic | 62,486 |
Is the genetic change at chromosome 3, position 14158587, within gene XPC (XPC complex subunit, DNA damage recognition and repair factor) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | AGGAAATGAAGTTTGAGGGAGATGATCCTTAGACTAACTTGTTCTGACAACAGATGGTGGAGCCAAGGTTTCATGAACACTAATGGTTTTGTAACATCGCATCTGTACCTCCGGCCAGTAAGTCAGTTACAGATCAATCAAAAGCTTTAAAGAATCAAATAAATCTGTGGCTTGTGGCAACTTCAAAAAGTTGTCTAACCTATTTGAATGCTTAGACACCTAACCCAGCCCCAGCAGATGTGTTAAAGGTCTGCAAGGAAGAAAAACACACAGTGCTCTTCAGTAAGAAGGTCTTATTTCAAAGGGACAATCCTCTTCTA... | AGGAAATGAAGTTTGAGGGAGATGATCCTTAGACTAACTTGTTCTGACAACAGATGGTGGAGCCAAGGTTTCATGAACACTAATGGTTTTGTAACATCGCATCTGTACCTCCGGCCAGTAAGTCAGTTACAGATCAATCAAAAGCTTTAAAGAATCAAATAAATCTGTGGCTTGTGGCAACTTCAAAAAGTTGTCTAACCTATTTGAATGCTTAGACACCTAACCCAGCCCCAGCAGATGTGTTAAAGGTCTGCAAGGAAGAAAAACACACAGTGCTCTTCAGTAAGAAGGTCTTATTTCAAAGGGACAATCCTCTTCTA... | pathogenic | 62,487 |
Is the variant located on chromosome 3 at position 14158589, gene XPC (XPC complex subunit, DNA damage recognition and repair factor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | GAAATGAAGTTTGAGGGAGATGATCCTTAGACTAACTTGTTCTGACAACAGATGGTGGAGCCAAGGTTTCATGAACACTAATGGTTTTGTAACATCGCATCTGTACCTCCGGCCAGTAAGTCAGTTACAGATCAATCAAAAGCTTTAAAGAATCAAATAAATCTGTGGCTTGTGGCAACTTCAAAAAGTTGTCTAACCTATTTGAATGCTTAGACACCTAACCCAGCCCCAGCAGATGTGTTAAAGGTCTGCAAGGAAGAAAAACACACAGTGCTCTTCAGTAAGAAGGTCTTATTTCAAAGGGACAATCCTCTTCTAGA... | GAAATGAAGTTTGAGGGAGATGATCCTTAGACTAACTTGTTCTGACAACAGATGGTGGAGCCAAGGTTTCATGAACACTAATGGTTTTGTAACATCGCATCTGTACCTCCGGCCAGTAAGTCAGTTACAGATCAATCAAAAGCTTTAAAGAATCAAATAAATCTGTGGCTTGTGGCAACTTCAAAAAGTTGTCTAACCTATTTGAATGCTTAGACACCTAACCCAGCCCCAGCAGATGTGTTAAAGGTCTGCAAGGAAGAAAAACACACAGTGCTCTTCAGTAAGAAGGTCTTATTTCAAAGGGACAATCCTCTTCTAGA... | pathogenic | 62,488 |
A mutation at chromosome position 14158589 on chromosome 3 in gene XPC (XPC complex subunit, DNA damage recognition and repair factor): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | GAAATGAAGTTTGAGGGAGATGATCCTTAGACTAACTTGTTCTGACAACAGATGGTGGAGCCAAGGTTTCATGAACACTAATGGTTTTGTAACATCGCATCTGTACCTCCGGCCAGTAAGTCAGTTACAGATCAATCAAAAGCTTTAAAGAATCAAATAAATCTGTGGCTTGTGGCAACTTCAAAAAGTTGTCTAACCTATTTGAATGCTTAGACACCTAACCCAGCCCCAGCAGATGTGTTAAAGGTCTGCAAGGAAGAAAAACACACAGTGCTCTTCAGTAAGAAGGTCTTATTTCAAAGGGACAATCCTCTTCTAGA... | GAAATGAAGTTTGAGGGAGATGATCCTTAGACTAACTTGTTCTGACAACAGATGGTGGAGCCAAGGTTTCATGAACACTAATGGTTTTGTAACATCGCATCTGTACCTCCGGCCAGTAAGTCAGTTACAGATCAATCAAAAGCTTTAAAGAATCAAATAAATCTGTGGCTTGTGGCAACTTCAAAAAGTTGTCTAACCTATTTGAATGCTTAGACACCTAACCCAGCCCCAGCAGATGTGTTAAAGGTCTGCAAGGAAGAAAAACACACAGTGCTCTTCAGTAAGAAGGTCTTATTTCAAAGGGACAATCCTCTTCTAGA... | pathogenic | 62,489 |
Evaluate if the mutation on chromosome 3 at position 14158616 in XPC (XPC complex subunit, DNA damage recognition and repair factor) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | TAGACTAACTTGTTCTGACAACAGATGGTGGAGCCAAGGTTTCATGAACACTAATGGTTTTGTAACATCGCATCTGTACCTCCGGCCAGTAAGTCAGTTACAGATCAATCAAAAGCTTTAAAGAATCAAATAAATCTGTGGCTTGTGGCAACTTCAAAAAGTTGTCTAACCTATTTGAATGCTTAGACACCTAACCCAGCCCCAGCAGATGTGTTAAAGGTCTGCAAGGAAGAAAAACACACAGTGCTCTTCAGTAAGAAGGTCTTATTTCAAAGGGACAATCCTCTTCTAGAGCGTGAGCTTACCTGTCTGCTCTCACA... | TAGACTAACTTGTTCTGACAACAGATGGTGGAGCCAAGGTTTCATGAACACTAATGGTTTTGTAACATCGCATCTGTACCTCCGGCCAGTAAGTCAGTTACAGATCAATCAAAAGCTTTAAAGAATCAAATAAATCTGTGGCTTGTGGCAACTTCAAAAAGTTGTCTAACCTATTTGAATGCTTAGACACCTAACCCAGCCCCAGCAGATGTGTTAAAGGTCTGCAAGGAAGAAAAACACACAGTGCTCTTCAGTAAGAAGGTCTTATTTCAAAGGGACAATCCTCTTCTAGAGCGTGAGCTTACCTGTCTGCTCTCACA... | pathogenic | 62,490 |
Gene mutation in XPC (XPC complex subunit, DNA damage recognition and repair factor) at chromosome 3, position 14158778—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_C'] | TGTCTAACCTATTTGAATGCTTAGACACCTAACCCAGCCCCAGCAGATGTGTTAAAGGTCTGCAAGGAAGAAAAACACACAGTGCTCTTCAGTAAGAAGGTCTTATTTCAAAGGGACAATCCTCTTCTAGAGCGTGAGCTTACCTGTCTGCTCTCACAGGAAACTGAGAGCAGCGGTTCTCACCCTGCGACTTTTCTCTTCGTCCACTATGACAGTGTTCTCTCTGCCCTTCTCTGAGATTGCTCATTTCTCAGTAGGCAATTCACTGCTGTAAGTCACCCTGTTCACTAGGCTCTCTAAGGCTTGCCCTTGGCATCTCT... | TGTCTAACCTATTTGAATGCTTAGACACCTAACCCAGCCCCAGCAGATGTGTTAAAGGTCTGCAAGGAAGAAAAACACACAGTGCTCTTCAGTAAGAAGGTCTTATTTCAAAGGGACAATCCTCTTCTAGAGCGTGAGCTTACCTGTCTGCTCTCACAGGAAACTGAGAGCAGCGGTTCTCACCCTGCGACTTTTCTCTTCGTCCACTATGACAGTGTTCTCTCTGCCCTTCTCTGAGATTGCTCATTTCTCAGTAGGCAATTCACTGCTGTAAGTCACCCTGTTCACTAGGCTCTCTAAGGCTTGCCCTTGGCATCTCT... | pathogenic | 62,493 |
Mutation found at chromosome 3 position 14159790, gene XPC (XPC complex subunit, DNA damage recognition and repair factor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_C'] | TTATAACTGGGCAATAACTAAAAGTATACAGGCTCCAAAGCCACACAGACCTGGGCTCAAGCACCGCGGCAGTTCATCTTTCAACTCCACAACTTTTTACACTAAAATTAAGGCAGCAACTGCCCCAGCTTTATATGGCTGTGACAATTAAATGAGACAACCCATTAAAAACACCCAACATAGTGCTGGGCATATATAAGGTGCTCAAAAACAGGAATAATTTTAATAACCTGACTGTGTCTTGGAGCCCCTGGCAGCCAAGGCCTTACCTCCAAGTCTTCTTTCTTCTCCCTGTCCATAAATGGGCTCTGGTATGGTCT... | TTATAACTGGGCAATAACTAAAAGTATACAGGCTCCAAAGCCACACAGACCTGGGCTCAAGCACCGCGGCAGTTCATCTTTCAACTCCACAACTTTTTACACTAAAATTAAGGCAGCAACTGCCCCAGCTTTATATGGCTGTGACAATTAAATGAGACAACCCATTAAAAACACCCAACATAGTGCTGGGCATATATAAGGTGCTCAAAAACAGGAATAATTTTAATAACCTGACTGTGTCTTGGAGCCCCTGGCAGCCAAGGCCTTACCTCCAAGTCTTCTTTCTTCTCCCTGTCCATAAATGGGCTCTGGTATGGTCT... | pathogenic | 62,501 |
Mutation at chromosome 3, position 14167222, within XPC (XPC complex subunit, DNA damage recognition and repair factor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_C'] | CCCCAGAACACCCCTTCCAGGGCACTCCTCATGCCATCCTGTAATTACCTGGTATGTATTTGTCTCCCCACCAGTCTGGCAGCTCTACCAGGGCAAGATCATACCTGGCATTTCTCTATCTTCAATGCCATGCCCACCACCTGATACATAGTTACCGCCTCAGGGAAGGTCTGTGGAAGTGACCTGAACCCAGCCTCTGAGAGAAACACAAATCCTACACTCCCCAGCTCTGCAGGACAAGCGGAGGGCCTTACCACTTCACCAGGTTTGAGAGGTAGTAGGTGTCCACATCTCGAGGCAGCACTCTGGTAAAGCGGGCT... | CCCCAGAACACCCCTTCCAGGGCACTCCTCATGCCATCCTGTAATTACCTGGTATGTATTTGTCTCCCCACCAGTCTGGCAGCTCTACCAGGGCAAGATCATACCTGGCATTTCTCTATCTTCAATGCCATGCCCACCACCTGATACATAGTTACCGCCTCAGGGAAGGTCTGTGGAAGTGACCTGAACCCAGCCTCTGAGAGAAACACAAATCCTACACTCCCCAGCTCTGCAGGACAAGCGGAGGGCCTTACCACTTCACCAGGTTTGAGAGGTAGTAGGTGTCCACATCTCGAGGCAGCACTCTGGTAAAGCGGGCT... | pathogenic | 62,520 |
Does the chromosome 3 mutation at position 14168266 within gene XPC (XPC complex subunit, DNA damage recognition and repair factor) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | AGCCTCCCTATTTTAATCAATAGTGCTGCCTCTCTCTCCTCACTCAGGCCTCAAACCTGAGAGTCATCTTCCCTTTCTTTCACCTCCAGCACCCAACAAGAGGTGAAAGGCACACAGCTGTCTCGTTTCGTGCCCCAGGCCTGGGTGAGGGAGGCGACCCCTCTCTAACCTCGTCACCATCCTTGCACCTCTAGATTTCTGCAGTAGCTGCACACAAAGCAACTCACCCATCCCATCACTATCCTCTCAGGCAGCCCACCATCCATCAAAGGGAAACCAAAGCCCACCCTCCCTTCACCCCCACCCCCCAACACCTACAT... | AGCCTCCCTATTTTAATCAATAGTGCTGCCTCTCTCTCCTCACTCAGGCCTCAAACCTGAGAGTCATCTTCCCTTTCTTTCACCTCCAGCACCCAACAAGAGGTGAAAGGCACACAGCTGTCTCGTTTCGTGCCCCAGGCCTGGGTGAGGGAGGCGACCCCTCTCTAACCTCGTCACCATCCTTGCACCTCTAGATTTCTGCAGTAGCTGCACACAAAGCAACTCACCCATCCCATCACTATCCTCTCAGGCAGCCCACCATCCATCAAAGGGAAACCAAAGCCCACCCTCCCTTCACCCCCACCCCCCAACACCTACAT... | pathogenic | 62,522 |
A genetic variant on chromosome 3, position 14168277, affects the gene XPC (XPC complex subunit, DNA damage recognition and repair factor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | TTTAATCAATAGTGCTGCCTCTCTCTCCTCACTCAGGCCTCAAACCTGAGAGTCATCTTCCCTTTCTTTCACCTCCAGCACCCAACAAGAGGTGAAAGGCACACAGCTGTCTCGTTTCGTGCCCCAGGCCTGGGTGAGGGAGGCGACCCCTCTCTAACCTCGTCACCATCCTTGCACCTCTAGATTTCTGCAGTAGCTGCACACAAAGCAACTCACCCATCCCATCACTATCCTCTCAGGCAGCCCACCATCCATCAAAGGGAAACCAAAGCCCACCCTCCCTTCACCCCCACCCCCCAACACCTACATACTCCACACAC... | TTTAATCAATAGTGCTGCCTCTCTCTCCTCACTCAGGCCTCAAACCTGAGAGTCATCTTCCCTTTCTTTCACCTCCAGCACCCAACAAGAGGTGAAAGGCACACAGCTGTCTCGTTTCGTGCCCCAGGCCTGGGTGAGGGAGGCGACCCCTCTCTAACCTCGTCACCATCCTTGCACCTCTAGATTTCTGCAGTAGCTGCACACAAAGCAACTCACCCATCCCATCACTATCCTCTCAGGCAGCCCACCATCCATCAAAGGGAAACCAAAGCCCACCCTCCCTTCACCCCCACCCCCCAACACCTACATACTCCACACAC... | pathogenic | 62,524 |
The mutation impacting XPC (XPC complex subunit, DNA damage recognition and repair factor) on chromosome 3 at position 14168369: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_C'] | TGAAAGGCACACAGCTGTCTCGTTTCGTGCCCCAGGCCTGGGTGAGGGAGGCGACCCCTCTCTAACCTCGTCACCATCCTTGCACCTCTAGATTTCTGCAGTAGCTGCACACAAAGCAACTCACCCATCCCATCACTATCCTCTCAGGCAGCCCACCATCCATCAAAGGGAAACCAAAGCCCACCCTCCCTTCACCCCCACCCCCCAACACCTACATACTCCACACACGCAGGTGAGCTGGGCACCTCGCCGTCCCCTCCACAACTTGGCTAGAGTCTTCAACTTTTTCTCCTAGACCTGGCTCTAATCCTTTCCCCTAC... | TGAAAGGCACACAGCTGTCTCGTTTCGTGCCCCAGGCCTGGGTGAGGGAGGCGACCCCTCTCTAACCTCGTCACCATCCTTGCACCTCTAGATTTCTGCAGTAGCTGCACACAAAGCAACTCACCCATCCCATCACTATCCTCTCAGGCAGCCCACCATCCATCAAAGGGAAACCAAAGCCCACCCTCCCTTCACCCCCACCCCCCAACACCTACATACTCCACACACGCAGGTGAGCTGGGCACCTCGCCGTCCCCTCCACAACTTGGCTAGAGTCTTCAACTTTTTCTCCTAGACCTGGCTCTAATCCTTTCCCCTAC... | pathogenic | 62,529 |
Clinical significance of chromosome 3, position 14170440, gene XPC (XPC complex subunit, DNA damage recognition and repair factor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | CATTTTTAAAAATCAGTAATAGTAATAACAATAATAATAGCTACTGTACTGAACAGAATCAAGGTTCTGCTGGGAAGGAGGAAGTGAGGCATGAATGTGAGGGAGACAGCCCACAGAGACCCCTAGACATGCCTTGCCCTGAGTCCTACCATGTGCCGGGCAGTGTGCTGAGTGTTATATATTCGTGTGTCTCATTTAACCCACACAACCCAGACAGTCTTTAGATAAAGAACCTAAAGCATAGAGATACTGGGTTGAATCAGATACAGACCCCTCTATCAAAAAGCTGACACTCATGCATGTATGTATATACTTAAAAC... | CATTTTTAAAAATCAGTAATAGTAATAACAATAATAATAGCTACTGTACTGAACAGAATCAAGGTTCTGCTGGGAAGGAGGAAGTGAGGCATGAATGTGAGGGAGACAGCCCACAGAGACCCCTAGACATGCCTTGCCCTGAGTCCTACCATGTGCCGGGCAGTGTGCTGAGTGTTATATATTCGTGTGTCTCATTTAACCCACACAACCCAGACAGTCTTTAGATAAAGAACCTAAAGCATAGAGATACTGGGTTGAATCAGATACAGACCCCTCTATCAAAAAGCTGACACTCATGCATGTATGTATATACTTAAAAC... | pathogenic | 62,532 |
The mutation impacting XPC (XPC complex subunit, DNA damage recognition and repair factor) on chromosome 3 at position 14170481: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | TACTGTACTGAACAGAATCAAGGTTCTGCTGGGAAGGAGGAAGTGAGGCATGAATGTGAGGGAGACAGCCCACAGAGACCCCTAGACATGCCTTGCCCTGAGTCCTACCATGTGCCGGGCAGTGTGCTGAGTGTTATATATTCGTGTGTCTCATTTAACCCACACAACCCAGACAGTCTTTAGATAAAGAACCTAAAGCATAGAGATACTGGGTTGAATCAGATACAGACCCCTCTATCAAAAAGCTGACACTCATGCATGTATGTATATACTTAAAACTCTTTAAAAAAAAAAAACCCAAGTGAGAATAATCTCCTTTT... | TACTGTACTGAACAGAATCAAGGTTCTGCTGGGAAGGAGGAAGTGAGGCATGAATGTGAGGGAGACAGCCCACAGAGACCCCTAGACATGCCTTGCCCTGAGTCCTACCATGTGCCGGGCAGTGTGCTGAGTGTTATATATTCGTGTGTCTCATTTAACCCACACAACCCAGACAGTCTTTAGATAAAGAACCTAAAGCATAGAGATACTGGGTTGAATCAGATACAGACCCCTCTATCAAAAAGCTGACACTCATGCATGTATGTATATACTTAAAACTCTTTAAAAAAAAAAAACCCAAGTGAGAATAATCTCCTTTT... | pathogenic | 62,533 |
Variant in XPC (XPC complex subunit, DNA damage recognition and repair factor), chromosome 3, position 14170487—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | ACTGAACAGAATCAAGGTTCTGCTGGGAAGGAGGAAGTGAGGCATGAATGTGAGGGAGACAGCCCACAGAGACCCCTAGACATGCCTTGCCCTGAGTCCTACCATGTGCCGGGCAGTGTGCTGAGTGTTATATATTCGTGTGTCTCATTTAACCCACACAACCCAGACAGTCTTTAGATAAAGAACCTAAAGCATAGAGATACTGGGTTGAATCAGATACAGACCCCTCTATCAAAAAGCTGACACTCATGCATGTATGTATATACTTAAAACTCTTTAAAAAAAAAAAACCCAAGTGAGAATAATCTCCTTTTCTCTGT... | ACTGAACAGAATCAAGGTTCTGCTGGGAAGGAGGAAGTGAGGCATGAATGTGAGGGAGACAGCCCACAGAGACCCCTAGACATGCCTTGCCCTGAGTCCTACCATGTGCCGGGCAGTGTGCTGAGTGTTATATATTCGTGTGTCTCATTTAACCCACACAACCCAGACAGTCTTTAGATAAAGAACCTAAAGCATAGAGATACTGGGTTGAATCAGATACAGACCCCTCTATCAAAAAGCTGACACTCATGCATGTATGTATATACTTAAAACTCTTTAAAAAAAAAAAACCCAAGTGAGAATAATCTCCTTTTCTCTGT... | pathogenic | 62,534 |
Variant at chromosome 3, position 14170506, gene XPC (XPC complex subunit, DNA damage recognition and repair factor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | CTGCTGGGAAGGAGGAAGTGAGGCATGAATGTGAGGGAGACAGCCCACAGAGACCCCTAGACATGCCTTGCCCTGAGTCCTACCATGTGCCGGGCAGTGTGCTGAGTGTTATATATTCGTGTGTCTCATTTAACCCACACAACCCAGACAGTCTTTAGATAAAGAACCTAAAGCATAGAGATACTGGGTTGAATCAGATACAGACCCCTCTATCAAAAAGCTGACACTCATGCATGTATGTATATACTTAAAACTCTTTAAAAAAAAAAAACCCAAGTGAGAATAATCTCCTTTTCTCTGTATTCTGTATTACCACAATA... | CTGCTGGGAAGGAGGAAGTGAGGCATGAATGTGAGGGAGACAGCCCACAGAGACCCCTAGACATGCCTTGCCCTGAGTCCTACCATGTGCCGGGCAGTGTGCTGAGTGTTATATATTCGTGTGTCTCATTTAACCCACACAACCCAGACAGTCTTTAGATAAAGAACCTAAAGCATAGAGATACTGGGTTGAATCAGATACAGACCCCTCTATCAAAAAGCTGACACTCATGCATGTATGTATATACTTAAAACTCTTTAAAAAAAAAAAACCCAAGTGAGAATAATCTCCTTTTCTCTGTATTCTGTATTACCACAATA... | pathogenic | 62,535 |
Evaluate this variant at chromosome 3, position 14173037, gene XPC (XPC complex subunit, DNA damage recognition and repair factor): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | TGATGTAAGGAGACTGAAATTCATAGCATTCTAACTTCAAGCAGGGATGTAACTACACATAGGTGAGTCATAAATAACAAGAGACATAGACAGCTAGCTAGCTAAGTAGATAATAACATAGATAAGTAGCTGGCTAAACAATGGCTCAAGGCTAAGTACTTGCTGATACGTAATATATTTCTGCAAATTCATATATAAAATGTGTCTAGAGTATCCAGTTACTTTTAACTTGTGTAAACTTTGGCACTTGGTACCAAGTGAGAATATTATCTAGGATTTTGGTATAAACATTTAAAATAACCAATCATCAATCTTGAGCT... | TGATGTAAGGAGACTGAAATTCATAGCATTCTAACTTCAAGCAGGGATGTAACTACACATAGGTGAGTCATAAATAACAAGAGACATAGACAGCTAGCTAGCTAAGTAGATAATAACATAGATAAGTAGCTGGCTAAACAATGGCTCAAGGCTAAGTACTTGCTGATACGTAATATATTTCTGCAAATTCATATATAAAATGTGTCTAGAGTATCCAGTTACTTTTAACTTGTGTAAACTTTGGCACTTGGTACCAAGTGAGAATATTATCTAGGATTTTGGTATAAACATTTAAAATAACCAATCATCAATCTTGAGCT... | pathogenic | 62,544 |
Gene mutation in COLQ (collagen like tail subunit of asymmetric acetylcholinesterase) at chromosome 3, position 15453901—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_5'] | GGGAGTTGAATCATGTCTCTGGGATTTTTGCCTTGAGGTCTAGCTCGGGGCCTGGGTGGAAGGAGGTGGTTGCCCTGCTCTTAGCACAGCATCTGTGAGGGAATCCCCCTTGCTACGATGCAGCCTACCAACAAAAATGTCCTGTATCTGTGAAGCCACTGGCCAGATGTGGCTATTGAGCTCTTGAAATGTAGTTACTGTGACTGAATAACTGCATTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGAT... | GGGAGTTGAATCATGTCTCTGGGATTTTTGCCTTGAGGTCTAGCTCGGGGCCTGGGTGGAAGGAGGTGGTTGCCCTGCTCTTAGCACAGCATCTGTGAGGGAATCCCCCTTGCTACGATGCAGCCTACCAACAAAAATGTCCTGTATCTGTGAAGCCACTGGCCAGATGTGGCTATTGAGCTCTTGAAATGTAGTTACTGTGACTGAATAACTGCATTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGAT... | pathogenic | 62,606 |
The chromosome 3, position 15455964 genetic variant in gene COLQ (collagen like tail subunit of asymmetric acetylcholinesterase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_5'] | TAGGCACGGTGACAGCCTGAGGGGACATAAGGAGGTGCAGTCTTGAGAAGGAGCAGAGGCGATAGGCTTGCCTCAGCTTGTAAGGACCATGCGGCCCAAGGGATCCAACCTAAGTGCTGCACCCCTTAAAGAACTGACCTCCATTAAGCTTCACACTCCTCCAGGGACTGCCCACAGGCTCTGGTCCCACAGCGATGTGCCATGGGACAAGAAGAAGGAGATCCTGGCTCCAGCCCCGCCTCACAACTTACTAGCTGAGGGGTGGGGAGACTCCAGGTTGTTATCTGCAAAACTGGGACACTGACATGACCTCCACCTCA... | TAGGCACGGTGACAGCCTGAGGGGACATAAGGAGGTGCAGTCTTGAGAAGGAGCAGAGGCGATAGGCTTGCCTCAGCTTGTAAGGACCATGCGGCCCAAGGGATCCAACCTAAGTGCTGCACCCCTTAAAGAACTGACCTCCATTAAGCTTCACACTCCTCCAGGGACTGCCCACAGGCTCTGGTCCCACAGCGATGTGCCATGGGACAAGAAGAAGGAGATCCTGGCTCCAGCCCCGCCTCACAACTTACTAGCTGAGGGGTGGGGAGACTCCAGGTTGTTATCTGCAAAACTGGGACACTGACATGACCTCCACCTCA... | pathogenic | 62,610 |
A genetic variant at chromosome 3, position 15456011, affecting gene COLQ (collagen like tail subunit of asymmetric acetylcholinesterase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Abnormality_of_the_musculature', 'Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_5'] | AAGGAGCAGAGGCGATAGGCTTGCCTCAGCTTGTAAGGACCATGCGGCCCAAGGGATCCAACCTAAGTGCTGCACCCCTTAAAGAACTGACCTCCATTAAGCTTCACACTCCTCCAGGGACTGCCCACAGGCTCTGGTCCCACAGCGATGTGCCATGGGACAAGAAGAAGGAGATCCTGGCTCCAGCCCCGCCTCACAACTTACTAGCTGAGGGGTGGGGAGACTCCAGGTTGTTATCTGCAAAACTGGGACACTGACATGACCTCCACCTCATAAAGCCAGTGTGGGGGTCCCGGGAGTGAGGGTTGGAAGACTGCTGA... | AAGGAGCAGAGGCGATAGGCTTGCCTCAGCTTGTAAGGACCATGCGGCCCAAGGGATCCAACCTAAGTGCTGCACCCCTTAAAGAACTGACCTCCATTAAGCTTCACACTCCTCCAGGGACTGCCCACAGGCTCTGGTCCCACAGCGATGTGCCATGGGACAAGAAGAAGGAGATCCTGGCTCCAGCCCCGCCTCACAACTTACTAGCTGAGGGGTGGGGAGACTCCAGGTTGTTATCTGCAAAACTGGGACACTGACATGACCTCCACCTCATAAAGCCAGTGTGGGGGTCCCGGGAGTGAGGGTTGGAAGACTGCTGA... | pathogenic | 62,612 |
Mutation found at chromosome 3 position 15456535, gene COLQ (collagen like tail subunit of asymmetric acetylcholinesterase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_5'] | AGCTCCTATTTGACACTGTGCACCAGAGGCAGAAGGGACTCTGGGCAGGGCCAGCCTTCTAGGGGATGCCATCCCTGGAGCTGTCGGGAGACAGTTCGGCCACACTGAGACAGTCAGCAGCATCTCCCGCCACCCACTCTGCCCTGTCATCCTTCCCCTGAACTGTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTGTTTCCCAGCCTGGAGTGCAGTGGTGCAATCGCAGTTCACTGCAGCCTTGAACCCCTGGGCTCAAATCATCCTCCCACCTCACCCTCCTAAGCAGCTGGGACTACAAGTGCGCAC... | AGCTCCTATTTGACACTGTGCACCAGAGGCAGAAGGGACTCTGGGCAGGGCCAGCCTTCTAGGGGATGCCATCCCTGGAGCTGTCGGGAGACAGTTCGGCCACACTGAGACAGTCAGCAGCATCTCCCGCCACCCACTCTGCCCTGTCATCCTTCCCCTGAACTGTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTGTTTCCCAGCCTGGAGTGCAGTGGTGCAATCGCAGTTCACTGCAGCCTTGAACCCCTGGGCTCAAATCATCCTCCCACCTCACCCTCCTAAGCAGCTGGGACTACAAGTGCGCAC... | pathogenic | 62,616 |
The chromosome 3, position 15458246 genetic variant in gene COLQ (collagen like tail subunit of asymmetric acetylcholinesterase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_5'] | GTCAGATCAAGACAGCAACCTGGCACGCAGGGATGTGGAGACCATCTGGAACCCTGGCTCAGAGAGGGGCTTCTATTTGGGAGTCAGGGTGGGGGAATGGAGGGCTGCTCAGAGAGAGTTTGAGGGAGGATGCTCAGCCCTCCCATGCAGACAGACTGTAGAAAGCCCTCCCCAGGCCCAGTGGGGTGGCCTTCCCTTCCTTTAATGGATGCATCTCTCTCCTGGGCAGGGAGTATGTCCTGAGGTAATGGCCTGGGGGTACCTGGATGGGGAGCCAGCCAAGGCTGTCCTTGAAGTACAGAGATCTCTGGTCTCTGCGG... | GTCAGATCAAGACAGCAACCTGGCACGCAGGGATGTGGAGACCATCTGGAACCCTGGCTCAGAGAGGGGCTTCTATTTGGGAGTCAGGGTGGGGGAATGGAGGGCTGCTCAGAGAGAGTTTGAGGGAGGATGCTCAGCCCTCCCATGCAGACAGACTGTAGAAAGCCCTCCCCAGGCCCAGTGGGGTGGCCTTCCCTTCCTTTAATGGATGCATCTCTCTCCTGGGCAGGGAGTATGTCCTGAGGTAATGGCCTGGGGGTACCTGGATGGGGAGCCAGCCAAGGCTGTCCTTGAAGTACAGAGATCTCTGGTCTCTGCGG... | pathogenic | 62,625 |
Is the variant located on chromosome 3 at position 15466366, gene COLQ (collagen like tail subunit of asymmetric acetylcholinesterase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Congenital_myasthenic_syndrome_5'] | AACAGCAGCCACCAGGTATCTGTGGACCACAGGGACTTGGACAACAAGTCTATTTCTATTTCTACTCTATTTCAGAGGTGAATGGAGTAGACCAAAGGTTGGAGGGACCTTCCCTGACATTTTTCTGCCATAATTCACCAGGATCTTTGCCCAACCTATTTGTGGTTGTTGGAGGAGTAGTGAAAATCCTAATAATGCCTGAATTAATTTATTTGGCATCCTAGTAGGTTGGACTCTCAGAGCCAGATTTAACTTAGTTTAAAGGATCTAACAAAATATGACATTTCTTGCCCATCCCATGATGTGGTTGCAAATATAGT... | AACAGCAGCCACCAGGTATCTGTGGACCACAGGGACTTGGACAACAAGTCTATTTCTATTTCTACTCTATTTCAGAGGTGAATGGAGTAGACCAAAGGTTGGAGGGACCTTCCCTGACATTTTTCTGCCATAATTCACCAGGATCTTTGCCCAACCTATTTGTGGTTGTTGGAGGAGTAGTGAAAATCCTAATAATGCCTGAATTAATTTATTTGGCATCCTAGTAGGTTGGACTCTCAGAGCCAGATTTAACTTAGTTTAAAGGATCTAACAAAATATGACATTTCTTGCCCATCCCATGATGTGGTTGCAAATATAGT... | pathogenic | 62,630 |
Assess the variant on chromosome 3, position 15474239, impacting COLQ (collagen like tail subunit of asymmetric acetylcholinesterase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Congenital_myasthenic_syndrome_5'] | TTTACAGTAATTTATTATTCTTTGACGTTCACTGTTGCCCTGAATGAAAAGCTAATCTAAATATTTTTAAGTAAAACTGTTTTTTCTCTTTTAACACTTCCTTTAATTTGCTTATATAATTAATCTATTCTTTTAACCCAACACCCTACCTAGGGTAGCAGAGTGTAGTTTCTGACAGCTTAAGGTAGTGATATAATAAATTAATGCATGTTGATTGAAAATATTTAAACACTTTCCACTGACTAGAAAAGGTAAGATAAAAATTGTTTTAGTTTGGTAAATAAAACTTTAAGGTGAACTTTTAAAAATGAAAAATACTA... | TTTACAGTAATTTATTATTCTTTGACGTTCACTGTTGCCCTGAATGAAAAGCTAATCTAAATATTTTTAAGTAAAACTGTTTTTTCTCTTTTAACACTTCCTTTAATTTGCTTATATAATTAATCTATTCTTTTAACCCAACACCCTACCTAGGGTAGCAGAGTGTAGTTTCTGACAGCTTAAGGTAGTGATATAATAAATTAATGCATGTTGATTGAAAATATTTAAACACTTTCCACTGACTAGAAAAGGTAAGATAAAAATTGTTTTAGTTTGGTAAATAAAACTTTAAGGTGAACTTTTAAAAATGAAAAATACTA... | pathogenic | 62,644 |
Clinical classification of chromosome 3, position 15478992, gene COLQ (collagen like tail subunit of asymmetric acetylcholinesterase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Congenital_myasthenic_syndrome_5'] | AGGTCTTGCAGGCCAAGTGAAGGAGGAAGTATCTGGGGCCCTGTGGCCAGTCCTTAAGCTCTCTTCTTCTTCCCCCTCTTGAAGAAGGGATTCCCTGACTATGTGCCAGGAGCCAGGAAAGCTGCCATCTTCCCCCCTCTTGTTTTGACACCGCATGAGCCCTGAGAGCATGCCACACTTACCCTGGGTCCTTCAGGGCCTGGCCAACCGATGGGCCCAGGCATGCCAGGAACACCTGGGGGGCCAGGTCTACCCTTCAAAGACCAAGAACAAAAGTCAGGGCAACTGGGTTTGTTTCTTTACTTCTAATAAATATGTTT... | AGGTCTTGCAGGCCAAGTGAAGGAGGAAGTATCTGGGGCCCTGTGGCCAGTCCTTAAGCTCTCTTCTTCTTCCCCCTCTTGAAGAAGGGATTCCCTGACTATGTGCCAGGAGCCAGGAAAGCTGCCATCTTCCCCCCTCTTGTTTTGACACCGCATGAGCCCTGAGAGCATGCCACACTTACCCTGGGTCCTTCAGGGCCTGGCCAACCGATGGGCCCAGGCATGCCAGGAACACCTGGGGGGCCAGGTCTACCCTTCAAAGACCAAGAACAAAAGTCAGGGCAACTGGGTTTGTTTCTTTACTTCTAATAAATATGTTT... | pathogenic | 62,668 |
Clinical significance of chromosome 3, position 15489586, gene COLQ (collagen like tail subunit of asymmetric acetylcholinesterase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Congenital_myasthenic_syndrome_5'] | GCACTTGGGAACTAACTGCTCCTTACACCCTCTTTCTCCTCCCCATGGAAGGCTCAGACCCAGCTGTCCCTCACCGATGGAGCACCCTCTTGGAGGCAGGCCAGAGGGGCCAGGACTCTGTGGGGTGGGGTCTCTGGAGGGTACTCTTGTTTGTCTAGAAATCCTTTCTGCAGCATTTTGACTGTTTCCCCTTTAGCTTTGGTGGGGAGGGGTGGGCTGCTTGGTAGCAATACCTGGGGGCCCAGTGAGGCAGGAAACCATCTCCTCTGCACCTCCACTTTCCTGTGCTGAACGCAGGCACCTCTGGGTCCACAGGAGGG... | GCACTTGGGAACTAACTGCTCCTTACACCCTCTTTCTCCTCCCCATGGAAGGCTCAGACCCAGCTGTCCCTCACCGATGGAGCACCCTCTTGGAGGCAGGCCAGAGGGGCCAGGACTCTGTGGGGTGGGGTCTCTGGAGGGTACTCTTGTTTGTCTAGAAATCCTTTCTGCAGCATTTTGACTGTTTCCCCTTTAGCTTTGGTGGGGAGGGGTGGGCTGCTTGGTAGCAATACCTGGGGGCCCAGTGAGGCAGGAAACCATCTCCTCTGCACCTCCACTTTCCTGTGCTGAACGCAGGCACCTCTGGGTCCACAGGAGGG... | pathogenic | 62,682 |
A genetic variant at chromosome 3, position 15521509, affecting gene COLQ (collagen like tail subunit of asymmetric acetylcholinesterase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Congenital_myasthenic_syndrome_5'] | GCCCCTTCTCTAAGGCTCCAAATCTGCCTGGGATCCATTTTCCTATTTGCCCCTCTTGCCTTTTCAAGCACAGGGTGGTAAAGGCATATTGCAGTTGCTAATCTCTAGGTGCCTCAGCATTCCTTGTTGGTTCCCTTAACCCCGCCCACACCTCTCAAAGTGATCCCTTCATTCAGATCTTTTCATCTGAACCACCTGAGTTGCTTCTTTATCCTGCTGTTGCCCTGATTGGTACAGTCTGCAAAAAGCTTACCTAAGAGATATCTATGTTGTGCCAGGGTGCTCTCCAAGGCAAAGAGTTCAAAAGAAAACCAGAGGTT... | GCCCCTTCTCTAAGGCTCCAAATCTGCCTGGGATCCATTTTCCTATTTGCCCCTCTTGCCTTTTCAAGCACAGGGTGGTAAAGGCATATTGCAGTTGCTAATCTCTAGGTGCCTCAGCATTCCTTGTTGGTTCCCTTAACCCCGCCCACACCTCTCAAAGTGATCCCTTCATTCAGATCTTTTCATCTGAACCACCTGAGTTGCTTCTTTATCCTGCTGTTGCCCTGATTGGTACAGTCTGCAAAAAGCTTACCTAAGAGATATCTATGTTGTGCCAGGGTGCTCTCCAAGGCAAAGAGTTCAAAAGAAAACCAGAGGTT... | pathogenic | 62,688 |
Is chromosome 3, position 15521568, gene COLQ (collagen like tail subunit of asymmetric acetylcholinesterase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Congenital_myasthenic_syndrome_5'] | CTTTTCAAGCACAGGGTGGTAAAGGCATATTGCAGTTGCTAATCTCTAGGTGCCTCAGCATTCCTTGTTGGTTCCCTTAACCCCGCCCACACCTCTCAAAGTGATCCCTTCATTCAGATCTTTTCATCTGAACCACCTGAGTTGCTTCTTTATCCTGCTGTTGCCCTGATTGGTACAGTCTGCAAAAAGCTTACCTAAGAGATATCTATGTTGTGCCAGGGTGCTCTCCAAGGCAAAGAGTTCAAAAGAAAACCAGAGGTTCTTTTCTCTCTAGTTTTCTGAACTCCTTAACCACTTTGGTGCTATTTAAATTAAGTAAT... | CTTTTCAAGCACAGGGTGGTAAAGGCATATTGCAGTTGCTAATCTCTAGGTGCCTCAGCATTCCTTGTTGGTTCCCTTAACCCCGCCCACACCTCTCAAAGTGATCCCTTCATTCAGATCTTTTCATCTGAACCACCTGAGTTGCTTCTTTATCCTGCTGTTGCCCTGATTGGTACAGTCTGCAAAAAGCTTACCTAAGAGATATCTATGTTGTGCCAGGGTGCTCTCCAAGGCAAAGAGTTCAAAAGAAAACCAGAGGTTCTTTTCTCTCTAGTTTTCTGAACTCCTTAACCACTTTGGTGCTATTTAAATTAAGTAAT... | pathogenic | 62,690 |
Evaluate if the mutation on chromosome 3 at position 15521568 in COLQ (collagen like tail subunit of asymmetric acetylcholinesterase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Congenital_myasthenic_syndrome_5'] | CTTTTCAAGCACAGGGTGGTAAAGGCATATTGCAGTTGCTAATCTCTAGGTGCCTCAGCATTCCTTGTTGGTTCCCTTAACCCCGCCCACACCTCTCAAAGTGATCCCTTCATTCAGATCTTTTCATCTGAACCACCTGAGTTGCTTCTTTATCCTGCTGTTGCCCTGATTGGTACAGTCTGCAAAAAGCTTACCTAAGAGATATCTATGTTGTGCCAGGGTGCTCTCCAAGGCAAAGAGTTCAAAAGAAAACCAGAGGTTCTTTTCTCTCTAGTTTTCTGAACTCCTTAACCACTTTGGTGCTATTTAAATTAAGTAAT... | CTTTTCAAGCACAGGGTGGTAAAGGCATATTGCAGTTGCTAATCTCTAGGTGCCTCAGCATTCCTTGTTGGTTCCCTTAACCCCGCCCACACCTCTCAAAGTGATCCCTTCATTCAGATCTTTTCATCTGAACCACCTGAGTTGCTTCTTTATCCTGCTGTTGCCCTGATTGGTACAGTCTGCAAAAAGCTTACCTAAGAGATATCTATGTTGTGCCAGGGTGCTCTCCAAGGCAAAGAGTTCAAAAGAAAACCAGAGGTTCTTTTCTCTCTAGTTTTCTGAACTCCTTAACCACTTTGGTGCTATTTAAATTAAGTAAT... | pathogenic | 62,691 |
Determine if the mutation at chromosome 3, position 15521759 in gene COLQ (collagen like tail subunit of asymmetric acetylcholinesterase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TACCTAAGAGATATCTATGTTGTGCCAGGGTGCTCTCCAAGGCAAAGAGTTCAAAAGAAAACCAGAGGTTCTTTTCTCTCTAGTTTTCTGAACTCCTTAACCACTTTGGTGCTATTTAAATTAAGTAATACAAAATGATGGTAAACCCCAGTTTGCAGATGAGAAGCTTTTATTCATTCATTCATCAAATATTTATTGATTACTATGTGCCAGGCACTGTTCTGACCCTGGGAAAACAGTAAAGTACAAGAGAGACACATGCCCTGGCCACATGGTGCTTATAGTGTAAGGCCACTGTCTCTCAGAAGTCAGGGAGCTCA... | TACCTAAGAGATATCTATGTTGTGCCAGGGTGCTCTCCAAGGCAAAGAGTTCAAAAGAAAACCAGAGGTTCTTTTCTCTCTAGTTTTCTGAACTCCTTAACCACTTTGGTGCTATTTAAATTAAGTAATACAAAATGATGGTAAACCCCAGTTTGCAGATGAGAAGCTTTTATTCATTCATTCATCAAATATTTATTGATTACTATGTGCCAGGCACTGTTCTGACCCTGGGAAAACAGTAAAGTACAAGAGAGACACATGCCCTGGCCACATGGTGCTTATAGTGTAAGGCCACTGTCTCTCAGAAGTCAGGGAGCTCA... | benign | 62,694 |
A genetic variant on chromosome 3, position 15601892, affects the gene BTD (biotinidase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Biotinidase_deficiency'] | TACTTAGTCAATAAATGTTTGCTGTATGAAGAAATCAGTGGCAGATATGTCATCTCTACAAAAACAGTTAAGTATAGGTTCCATTCATAGGTCAATAGCTTCATTTTTTCACACAGATGAAAGAACAGAATGTTGTTCTAACAAAGACAAGTAAAATGTAGAAGCAACAGAAACTCAAAACCTCCTAGTTTTAAGATTAAAAAATACAAATCTCAAACCTTGTAGATAAAGAATGTCATTCAATAAAGAATGTCATTCAATAAAGAATGTCATTCAATTAATAAATAATGTATAATATTAAGCATCTACACCACGTGAAA... | TACTTAGTCAATAAATGTTTGCTGTATGAAGAAATCAGTGGCAGATATGTCATCTCTACAAAAACAGTTAAGTATAGGTTCCATTCATAGGTCAATAGCTTCATTTTTTCACACAGATGAAAGAACAGAATGTTGTTCTAACAAAGACAAGTAAAATGTAGAAGCAACAGAAACTCAAAACCTCCTAGTTTTAAGATTAAAAAATACAAATCTCAAACCTTGTAGATAAAGAATGTCATTCAATAAAGAATGTCATTCAATAAAGAATGTCATTCAATTAATAAATAATGTATAATATTAAGCATCTACACCACGTGAAA... | pathogenic | 62,704 |
A genetic variant at chromosome 3, position 15635477, affecting gene BTD (biotinidase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Biotinidase_deficiency'] | GCTCTCCTACCGGGCTCCTTTTGTAAAATAAATTTTATCTTCTCCAGATAGAAAGAAATGTGATACCTTGCGGATTTTGCGGTTTCCTTGTTTTGCTGGATTGCAAGTCCTTTAGACATAAACAAATGTTCTGTACCCCGACATCGGTGGTACCCAGCTCTCAGTTGAGAAAGAGATGTAATGTGAATGCCACTCTTGGCCCCAGGCACTCCTCACTTGCCCCCACTGGGGACTGGTTCATACCCTCCTCTCCTGGCCTCAGTTTCCATACCTCTTAGTGAGGCCTTTGCGTTATACTTCAGAAATATTGTCAGTATGAC... | GCTCTCCTACCGGGCTCCTTTTGTAAAATAAATTTTATCTTCTCCAGATAGAAAGAAATGTGATACCTTGCGGATTTTGCGGTTTCCTTGTTTTGCTGGATTGCAAGTCCTTTAGACATAAACAAATGTTCTGTACCCCGACATCGGTGGTACCCAGCTCTCAGTTGAGAAAGAGATGTAATGTGAATGCCACTCTTGGCCCCAGGCACTCCTCACTTGCCCCCACTGGGGACTGGTTCATACCCTCCTCTCCTGGCCTCAGTTTCCATACCTCTTAGTGAGGCCTTTGCGTTATACTTCAGAAATATTGTCAGTATGAC... | pathogenic | 62,706 |
Variant in gene BTD (biotinidase), located at chromosome 3 position 15635478: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Biotinidase_deficiency'] | CTCTCCTACCGGGCTCCTTTTGTAAAATAAATTTTATCTTCTCCAGATAGAAAGAAATGTGATACCTTGCGGATTTTGCGGTTTCCTTGTTTTGCTGGATTGCAAGTCCTTTAGACATAAACAAATGTTCTGTACCCCGACATCGGTGGTACCCAGCTCTCAGTTGAGAAAGAGATGTAATGTGAATGCCACTCTTGGCCCCAGGCACTCCTCACTTGCCCCCACTGGGGACTGGTTCATACCCTCCTCTCCTGGCCTCAGTTTCCATACCTCTTAGTGAGGCCTTTGCGTTATACTTCAGAAATATTGTCAGTATGACT... | CTCTCCTACCGGGCTCCTTTTGTAAAATAAATTTTATCTTCTCCAGATAGAAAGAAATGTGATACCTTGCGGATTTTGCGGTTTCCTTGTTTTGCTGGATTGCAAGTCCTTTAGACATAAACAAATGTTCTGTACCCCGACATCGGTGGTACCCAGCTCTCAGTTGAGAAAGAGATGTAATGTGAATGCCACTCTTGGCCCCAGGCACTCCTCACTTGCCCCCACTGGGGACTGGTTCATACCCTCCTCTCCTGGCCTCAGTTTCCATACCTCTTAGTGAGGCCTTTGCGTTATACTTCAGAAATATTGTCAGTATGACT... | pathogenic | 62,708 |
Located at chromosome 3 position 15635481, the variant affecting gene BTD (biotinidase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Biotinidase_deficiency'] | TCCTACCGGGCTCCTTTTGTAAAATAAATTTTATCTTCTCCAGATAGAAAGAAATGTGATACCTTGCGGATTTTGCGGTTTCCTTGTTTTGCTGGATTGCAAGTCCTTTAGACATAAACAAATGTTCTGTACCCCGACATCGGTGGTACCCAGCTCTCAGTTGAGAAAGAGATGTAATGTGAATGCCACTCTTGGCCCCAGGCACTCCTCACTTGCCCCCACTGGGGACTGGTTCATACCCTCCTCTCCTGGCCTCAGTTTCCATACCTCTTAGTGAGGCCTTTGCGTTATACTTCAGAAATATTGTCAGTATGACTTTG... | TCCTACCGGGCTCCTTTTGTAAAATAAATTTTATCTTCTCCAGATAGAAAGAAATGTGATACCTTGCGGATTTTGCGGTTTCCTTGTTTTGCTGGATTGCAAGTCCTTTAGACATAAACAAATGTTCTGTACCCCGACATCGGTGGTACCCAGCTCTCAGTTGAGAAAGAGATGTAATGTGAATGCCACTCTTGGCCCCAGGCACTCCTCACTTGCCCCCACTGGGGACTGGTTCATACCCTCCTCTCCTGGCCTCAGTTTCCATACCTCTTAGTGAGGCCTTTGCGTTATACTTCAGAAATATTGTCAGTATGACTTTG... | pathogenic | 62,710 |
Is the genetic change at chromosome 3, position 15635485, within gene BTD (biotinidase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Biotinidase_deficiency'] | ACCGGGCTCCTTTTGTAAAATAAATTTTATCTTCTCCAGATAGAAAGAAATGTGATACCTTGCGGATTTTGCGGTTTCCTTGTTTTGCTGGATTGCAAGTCCTTTAGACATAAACAAATGTTCTGTACCCCGACATCGGTGGTACCCAGCTCTCAGTTGAGAAAGAGATGTAATGTGAATGCCACTCTTGGCCCCAGGCACTCCTCACTTGCCCCCACTGGGGACTGGTTCATACCCTCCTCTCCTGGCCTCAGTTTCCATACCTCTTAGTGAGGCCTTTGCGTTATACTTCAGAAATATTGTCAGTATGACTTTGAAGA... | ACCGGGCTCCTTTTGTAAAATAAATTTTATCTTCTCCAGATAGAAAGAAATGTGATACCTTGCGGATTTTGCGGTTTCCTTGTTTTGCTGGATTGCAAGTCCTTTAGACATAAACAAATGTTCTGTACCCCGACATCGGTGGTACCCAGCTCTCAGTTGAGAAAGAGATGTAATGTGAATGCCACTCTTGGCCCCAGGCACTCCTCACTTGCCCCCACTGGGGACTGGTTCATACCCTCCTCTCCTGGCCTCAGTTTCCATACCTCTTAGTGAGGCCTTTGCGTTATACTTCAGAAATATTGTCAGTATGACTTTGAAGA... | pathogenic | 62,711 |
Is chromosome 3, position 15635505, gene BTD (biotinidase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Biotinidase_deficiency'] | TAAATTTTATCTTCTCCAGATAGAAAGAAATGTGATACCTTGCGGATTTTGCGGTTTCCTTGTTTTGCTGGATTGCAAGTCCTTTAGACATAAACAAATGTTCTGTACCCCGACATCGGTGGTACCCAGCTCTCAGTTGAGAAAGAGATGTAATGTGAATGCCACTCTTGGCCCCAGGCACTCCTCACTTGCCCCCACTGGGGACTGGTTCATACCCTCCTCTCCTGGCCTCAGTTTCCATACCTCTTAGTGAGGCCTTTGCGTTATACTTCAGAAATATTGTCAGTATGACTTTGAAGATGAAAGTTTGCCCCCAAAAT... | TAAATTTTATCTTCTCCAGATAGAAAGAAATGTGATACCTTGCGGATTTTGCGGTTTCCTTGTTTTGCTGGATTGCAAGTCCTTTAGACATAAACAAATGTTCTGTACCCCGACATCGGTGGTACCCAGCTCTCAGTTGAGAAAGAGATGTAATGTGAATGCCACTCTTGGCCCCAGGCACTCCTCACTTGCCCCCACTGGGGACTGGTTCATACCCTCCTCTCCTGGCCTCAGTTTCCATACCTCTTAGTGAGGCCTTTGCGTTATACTTCAGAAATATTGTCAGTATGACTTTGAAGATGAAAGTTTGCCCCCAAAAT... | pathogenic | 62,713 |
Benign or pathogenic: chromosome 3, position 15635571, gene BTD (biotinidase) variant? Disease(s) if pathogenic? | pathogenic; ['Biotinidase_deficiency'] | GCTGGATTGCAAGTCCTTTAGACATAAACAAATGTTCTGTACCCCGACATCGGTGGTACCCAGCTCTCAGTTGAGAAAGAGATGTAATGTGAATGCCACTCTTGGCCCCAGGCACTCCTCACTTGCCCCCACTGGGGACTGGTTCATACCCTCCTCTCCTGGCCTCAGTTTCCATACCTCTTAGTGAGGCCTTTGCGTTATACTTCAGAAATATTGTCAGTATGACTTTGAAGATGAAAGTTTGCCCCCAAAATCACTCTCTGTTATCATTGTGAAACCAGAGATGGAATGGAAAAATGGGTTTCTGAGACATTTTAAAT... | GCTGGATTGCAAGTCCTTTAGACATAAACAAATGTTCTGTACCCCGACATCGGTGGTACCCAGCTCTCAGTTGAGAAAGAGATGTAATGTGAATGCCACTCTTGGCCCCAGGCACTCCTCACTTGCCCCCACTGGGGACTGGTTCATACCCTCCTCTCCTGGCCTCAGTTTCCATACCTCTTAGTGAGGCCTTTGCGTTATACTTCAGAAATATTGTCAGTATGACTTTGAAGATGAAAGTTTGCCCCCAAAATCACTCTCTGTTATCATTGTGAAACCAGAGATGGAATGGAAAAATGGGTTTCTGAGACATTTTAAAT... | pathogenic | 62,720 |
Clinical classification of chromosome 3, position 15641892, gene BTD (biotinidase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Biotinidase_deficiency'] | TCATGCCTGTAATCCCAGCATTTTGGGGGTCCAAAGCGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGATGGTGAAACCCCATCTCCACTAAAAATACAAAATTTAGCCAGGTGTGGTGGCGCATGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATTACTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCGAGATCACAACACTGCACTCCAGCCTGGGCGACAGACCAAGACTCTCTCTCAAAAAACAAAACAAAACTTAAAACTCTAATTTTTATACCCTTTGATCCAGTAATTTCACT... | TCATGCCTGTAATCCCAGCATTTTGGGGGTCCAAAGCGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGATGGTGAAACCCCATCTCCACTAAAAATACAAAATTTAGCCAGGTGTGGTGGCGCATGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATTACTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCGAGATCACAACACTGCACTCCAGCCTGGGCGACAGACCAAGACTCTCTCTCAAAAAACAAAACAAAACTTAAAACTCTAATTTTTATACCCTTTGATCCAGTAATTTCACT... | pathogenic | 62,725 |
Is the genetic mutation found on chromosome 3 at position 15641990, within the gene BTD (biotinidase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Biotinidase_deficiency'] | AAAAATACAAAATTTAGCCAGGTGTGGTGGCGCATGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATTACTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCGAGATCACAACACTGCACTCCAGCCTGGGCGACAGACCAAGACTCTCTCTCAAAAAACAAAACAAAACTTAAAACTCTAATTTTTATACCCTTTGATCCAGTAATTTCACTTGTAAGACTTTATTCCAAAGAAATAATCAAAAGATGCAATCAAAGATTTGTGTGAAGTGTATAATTATGCAATAAGTGTTTTGAGCACACTATGCAGA... | AAAAATACAAAATTTAGCCAGGTGTGGTGGCGCATGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATTACTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCGAGATCACAACACTGCACTCCAGCCTGGGCGACAGACCAAGACTCTCTCTCAAAAAACAAAACAAAACTTAAAACTCTAATTTTTATACCCTTTGATCCAGTAATTTCACTTGTAAGACTTTATTCCAAAGAAATAATCAAAAGATGCAATCAAAGATTTGTGTGAAGTGTATAATTATGCAATAAGTGTTTTGAGCACACTATGCAGA... | pathogenic | 62,731 |
For chromosome 3, position 15642000, gene BTD (biotinidase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Biotinidase_deficiency'] | AATTTAGCCAGGTGTGGTGGCGCATGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATTACTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCGAGATCACAACACTGCACTCCAGCCTGGGCGACAGACCAAGACTCTCTCTCAAAAAACAAAACAAAACTTAAAACTCTAATTTTTATACCCTTTGATCCAGTAATTTCACTTGTAAGACTTTATTCCAAAGAAATAATCAAAAGATGCAATCAAAGATTTGTGTGAAGTGTATAATTATGCAATAAGTGTTTTGAGCACACTATGCAGATGGTCACCAC... | AATTTAGCCAGGTGTGGTGGCGCATGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATTACTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCGAGATCACAACACTGCACTCCAGCCTGGGCGACAGACCAAGACTCTCTCTCAAAAAACAAAACAAAACTTAAAACTCTAATTTTTATACCCTTTGATCCAGTAATTTCACTTGTAAGACTTTATTCCAAAGAAATAATCAAAAGATGCAATCAAAGATTTGTGTGAAGTGTATAATTATGCAATAAGTGTTTTGAGCACACTATGCAGATGGTCACCAC... | pathogenic | 62,732 |
The mutation impacting BTD (biotinidase) on chromosome 3 at position 15644345: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Biotinidase_deficiency'] | TGTATACTTAAACCAAACCAAAAGTAAAAAAAGAAAAGTTCATCTTCACCACAGCCTGCACCTCATCCCATGCCCTTGCTTAGAGAAACTGCCATCAACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCG... | TGTATACTTAAACCAAACCAAAAGTAAAAAAAGAAAAGTTCATCTTCACCACAGCCTGCACCTCATCCCATGCCCTTGCTTAGAGAAACTGCCATCAACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCG... | pathogenic | 62,743 |
Regarding the variant at chromosome 3 and position 15644413, affecting gene BTD (biotinidase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Biotinidase_deficiency'] | CATGCCCTTGCTTAGAGAAACTGCCATCAACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCG... | CATGCCCTTGCTTAGAGAAACTGCCATCAACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCG... | pathogenic | 62,747 |
Variant chromosome 3, position 15644442, gene BTD (biotinidase): benign or pathogenic? Disease(s)? | pathogenic; ['Biotinidase_deficiency'] | ACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTC... | ACAATTTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTC... | pathogenic | 62,750 |
Variant on chromosome 3, at position 15644447, affecting BTD (biotinidase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Biotinidase_deficiency'] | TTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCT... | TTGATGTGCATTCAGTTGTATTCTTTTCTATGCATTTCATAGTTATTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCT... | pathogenic | 62,751 |
Does the chromosome 3 mutation at position 15644492 within gene BTD (biotinidase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Biotinidase_deficiency'] | TTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTT... | TTGACATCCTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTT... | pathogenic | 62,755 |
Evaluate the clinical significance of the mutation at chromosome 3, position 15644505 in gene BTD (biotinidase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Biotinidase_deficiency'] | TTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTT... | TTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGCCACCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTTCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTGTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGTCTACCTCGGCCTGCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTT... | pathogenic | 62,757 |
Variant chromosome 3, position 15644788, gene BTD (biotinidase): benign or pathogenic? Disease(s)? | pathogenic; ['Biotinidase_deficiency'] | GCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTTTAAGCATACTATATGCTTATTCATTTTAAATTTTTGCTATTATATTTTTGTAAACATGTTCAAGTTTTTCTGTAAAATAAAATTTTTAGAAATGAAATCCCTCAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCATTCCAGCCTGGACAACAGGAGCAAAACTCTGCCTCAAAAAAAAAAAAAAAAATAAAATAAAATAAAG... | GCATGAGCCACTGTGCCTGGCCTTGACATCCTCTTTTTAAGCATACTATATGCTTATTCATTTTAAATTTTTGCTATTATATTTTTGTAAACATGTTCAAGTTTTTCTGTAAAATAAAATTTTTAGAAATGAAATCCCTCAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCATTCCAGCCTGGACAACAGGAGCAAAACTCTGCCTCAAAAAAAAAAAAAAAAATAAAATAAAATAAAG... | pathogenic | 62,773 |
A mutation at chromosome position 15644847 on chromosome 3 in gene BTD (biotinidase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Biotinidase_deficiency'] | ATTTTAAATTTTTGCTATTATATTTTTGTAAACATGTTCAAGTTTTTCTGTAAAATAAAATTTTTAGAAATGAAATCCCTCAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCATTCCAGCCTGGACAACAGGAGCAAAACTCTGCCTCAAAAAAAAAAAAAAAAATAAAATAAAATAAAGAAATGGAATCCCTCAAAGGATATGTACATTTTAAATTATATTAAAGAGTACCAAATTTC... | ATTTTAAATTTTTGCTATTATATTTTTGTAAACATGTTCAAGTTTTTCTGTAAAATAAAATTTTTAGAAATGAAATCCCTCAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCATTCCAGCCTGGACAACAGGAGCAAAACTCTGCCTCAAAAAAAAAAAAAAAAATAAAATAAAATAAAGAAATGGAATCCCTCAAAGGATATGTACATTTTAAATTATATTAAAGAGTACCAAATTTC... | pathogenic | 62,774 |
Evaluate this variant at chromosome 3, position 15644856, gene BTD (biotinidase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Biotinidase_deficiency'] | TTTTGCTATTATATTTTTGTAAACATGTTCAAGTTTTTCTGTAAAATAAAATTTTTAGAAATGAAATCCCTCAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCATTCCAGCCTGGACAACAGGAGCAAAACTCTGCCTCAAAAAAAAAAAAAAAAATAAAATAAAATAAAGAAATGGAATCCCTCAAAGGATATGTACATTTTAAATTATATTAAAGAGTACCAAATTTCCCGCTTAAA... | TTTTGCTATTATATTTTTGTAAACATGTTCAAGTTTTTCTGTAAAATAAAATTTTTAGAAATGAAATCCCTCAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCATTCCAGCCTGGACAACAGGAGCAAAACTCTGCCTCAAAAAAAAAAAAAAAAATAAAATAAAATAAAGAAATGGAATCCCTCAAAGGATATGTACATTTTAAATTATATTAAAGAGTACCAAATTTCCCGCTTAAA... | pathogenic | 62,775 |
Determine if the mutation at chromosome 3, position 15644907 in gene BTD (biotinidase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Biotinidase_deficiency'] | TTTTTAGAAATGAAATCCCTCAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCATTCCAGCCTGGACAACAGGAGCAAAACTCTGCCTCAAAAAAAAAAAAAAAAATAAAATAAAATAAAGAAATGGAATCCCTCAAAGGATATGTACATTTTAAATTATATTAAAGAGTACCAAATTTCCCGCTTAAAAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTT... | TTTTTAGAAATGAAATCCCTCAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCATTCCAGCCTGGACAACAGGAGCAAAACTCTGCCTCAAAAAAAAAAAAAAAAATAAAATAAAATAAAGAAATGGAATCCCTCAAAGGATATGTACATTTTAAATTATATTAAAGAGTACCAAATTTCCCGCTTAAAAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTT... | pathogenic | 62,777 |
Mutation found at chromosome 3 position 15644941, gene BTD (biotinidase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Biotinidase_deficiency'] | TGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCATTCCAGCCTGGACAACAGGAGCAAAACTCTGCCTCAAAAAAAAAAAAAAAAATAAAATAAAATAAAGAAATGGAATCCCTCAAAGGATATGTACATTTTAAATTATATTAAAGAGTACCAAATTTCCCGCTTAAAAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATC... | TGGCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCATTCCAGCCTGGACAACAGGAGCAAAACTCTGCCTCAAAAAAAAAAAAAAAAATAAAATAAAATAAAGAAATGGAATCCCTCAAAGGATATGTACATTTTAAATTATATTAAAGAGTACCAAATTTCCCGCTTAAAAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATC... | pathogenic | 62,780 |
The mutation in gene BTD (biotinidase) at chromosome 3, position 15644951—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Biotinidase_deficiency'] | CTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCATTCCAGCCTGGACAACAGGAGCAAAACTCTGCCTCAAAAAAAAAAAAAAAAATAAAATAAAATAAAGAAATGGAATCCCTCAAAGGATATGTACATTTTAAATTATATTAAAGAGTACCAAATTTCCCGCTTAAAAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCT... | CTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGGAGTTGCGGTGAGAAAGATCGCGCCACTGCATTCCAGCCTGGACAACAGGAGCAAAACTCTGCCTCAAAAAAAAAAAAAAAAATAAAATAAAATAAAGAAATGGAATCCCTCAAAGGATATGTACATTTTAAATTATATTAAAGAGTACCAAATTTCCCGCTTAAAAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCT... | pathogenic | 62,781 |
The genetic variant at chromosome 3, position 15645083, affecting gene BTD (biotinidase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Biotinidase_deficiency'] | AAAAAAAAAATAAAATAAAATAAAGAAATGGAATCCCTCAAAGGATATGTACATTTTAAATTATATTAAAGAGTACCAAATTTCCCGCTTAAAAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTA... | AAAAAAAAAATAAAATAAAATAAAGAAATGGAATCCCTCAAAGGATATGTACATTTTAAATTATATTAAAGAGTACCAAATTTCCCGCTTAAAAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTA... | pathogenic | 62,786 |
Regarding the variant found on chromosome 3 at position 15645094 in gene BTD (biotinidase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Biotinidase_deficiency'] | AAAATAAAATAAAGAAATGGAATCCCTCAAAGGATATGTACATTTTAAATTATATTAAAGAGTACCAAATTTCCCGCTTAAAAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGG... | AAAATAAAATAAAGAAATGGAATCCCTCAAAGGATATGTACATTTTAAATTATATTAAAGAGTACCAAATTTCCCGCTTAAAAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGG... | pathogenic | 62,787 |
A genetic alteration at chromosome 3, position 15645160, in gene BTD (biotinidase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Biotinidase_deficiency'] | AAATTTCCCGCTTAAAAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGG... | AAATTTCCCGCTTAAAAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGG... | pathogenic | 62,793 |
Evaluate this variant at chromosome 3, position 15645175, gene BTD (biotinidase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Biotinidase_deficiency'] | AAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGA... | AAAACTTTGATTTCACTTTACAGCCCCAGTCATACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGA... | pathogenic | 62,796 |
Evaluate this variant at chromosome 3, position 15645207, gene BTD (biotinidase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Biotinidase_deficiency'] | TACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGG... | TACAGTATGAGTGCCTCTTTTTCCATCCTTTGGTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGG... | pathogenic | 62,800 |
Clinical classification of chromosome 3, position 15645239, gene BTD (biotinidase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Biotinidase_deficiency'] | GTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAA... | GTCAATGCAAGATAGAATAATCTTTTGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAA... | pathogenic | 62,803 |
The genetic variant at chromosome 3, position 15645264, affecting gene BTD (biotinidase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Biotinidase_deficiency'] | TGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTT... | TGAGCCTGGGCACAGTGCTTCACATCTGTAATCCCAGCATTCTGGGAGGCCAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTT... | pathogenic | 62,804 |
Determine if the mutation at chromosome 3, position 15645314 in gene BTD (biotinidase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['BTD-related_disorder', 'Biotinidase_deficiency'] | CAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTT... | CAAGGCTGGTGGATAGCTTGAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTT... | pathogenic | 62,809 |
Gene BTD (biotinidase) variant at chromosome 3, position 15645333—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Biotinidase_deficiency'] | GAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTGCACTTCTCTCTCACTAAT... | GAGCTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTGCACTTCTCTCTCACTAAT... | pathogenic | 62,811 |
For chromosome 3, position 15645346, gene BTD (biotinidase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Biotinidase_deficiency'] | CAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTGCACTTCTCTCTCACTAATGAGATTGAGCATC... | CAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTGCACTTCTCTCTCACTAATGAGATTGAGCATC... | pathogenic | 62,813 |
Chromosome 3, position 15645362, gene BTD (biotinidase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Biotinidase_deficiency'] | AACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTGCACTTCTCTCTCACTAATGAGATTGAGCATCTTTTGAGATGTTTGTG... | AACATGGTGAAACCTCGTCTCTACAATAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTGCACTTCTCTCTCACTAATGAGATTGAGCATCTTTTGAGATGTTTGTG... | pathogenic | 62,814 |
Gene BTD (biotinidase) variant at chromosome 3, position 15645410—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Biotinidase_deficiency'] | GTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTGCACTTCTCTCTCACTAATGAGATTGAGCATCTTTTGAGATGTTTGTGGGTCACTTTTCTTTGTCCTTCTGTGAATCACCTGTTTATATCCTTTGC... | GTGGTGGTGCATGCCTGTAGTCCCAGCCACTCAGAAGGCTGAGATAGGAGGATGGCTTGAGCCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACCCTGCCTCAAAAAAAAAAGAAAAAGAAGAATCTTTTGAATTTTTGCCAGTCTTATGAAGGTGAGAAATGATAGCTATTTCATTGTTGTAATTTGCACTTCTCTCTCACTAATGAGATTGAGCATCTTTTGAGATGTTTGTGGGTCACTTTTCTTTGTCCTTCTGTGAATCACCTGTTTATATCCTTTGC... | pathogenic | 62,816 |
Does the variant impacting THRB (thyroid hormone receptor beta) on chromosome 3, position 24122911, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['THRB-related_disorder', 'Thyroid_hormone_resistance,_generalized,_autosomal_dominant'] | CTTGTTTCCTTTTTCCCAGAAGCCAGTACAATTGCTTTCATGCATTGAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTT... | CTTGTTTCCTTTTTCCCAGAAGCCAGTACAATTGCTTTCATGCATTGAATATTTAATTCCCCGCTCCCAGATAATTTCCAATCATACTTGGAATTTTCAGTGCTGTTCCTCTTCTTTTTCCAAGGCCTCTAAATGGTTGACTAGTATTGTGTCAAATTATTATTTCGAGCCAATAACAAATTTACGTTCCTTAACTGTTAAGTGGGCCATACTTCTTGTCTAATAAAGTTAGGAATTTAAGTGTTAAAAAAAAATAATTAAAGGAACCAGATTTTTTTTTTCCCCTTGAAATTCAGACAATATTAAGGGCAGGAAGGGTT... | pathogenic | 62,911 |
Classify the chromosome 3 variant at position 25598482 affecting gene TOP2B (DNA topoisomerase II beta) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ATTACCTTGAAAATGGAAATTCCTGGATCAATGCCACCTCTCATTCAAGAAATGCTGGAGAATTCTGAAGGACATGAACCCTTGACCCCAAGTTCAAGTGGGAACACAGCAGAGCACAGTCCTAGCATCTCACCCAGCTCAGTGGAAAACAGTGGGGTCAGTCAGTCACCACTCGTGCAATAAGACATTTTCTAGCTACTTCAAACATTCCCCAGTACCTTCAGTTCCAGGATTTAAAATGCAAGAAAAAACATTTTTACTGCTGCTTAGTTTTTGGACTGAAAAGATATTAAAACTCAAGAAGGACCAAGAAGTTTTCA... | ATTACCTTGAAAATGGAAATTCCTGGATCAATGCCACCTCTCATTCAAGAAATGCTGGAGAATTCTGAAGGACATGAACCCTTGACCCCAAGTTCAAGTGGGAACACAGCAGAGCACAGTCCTAGCATCTCACCCAGCTCAGTGGAAAACAGTGGGGTCAGTCAGTCACCACTCGTGCAATAAGACATTTTCTAGCTACTTCAAACATTCCCCAGTACCTTCAGTTCCAGGATTTAAAATGCAAGAAAAAACATTTTTACTGCTGCTTAGTTTTTGGACTGAAAAGATATTAAAACTCAAGAAGGACCAAGAAGTTTTCA... | benign | 62,961 |
Regarding the variant at chromosome 3 and position 25598482, affecting gene TOP2B (DNA topoisomerase II beta): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ATTACCTTGAAAATGGAAATTCCTGGATCAATGCCACCTCTCATTCAAGAAATGCTGGAGAATTCTGAAGGACATGAACCCTTGACCCCAAGTTCAAGTGGGAACACAGCAGAGCACAGTCCTAGCATCTCACCCAGCTCAGTGGAAAACAGTGGGGTCAGTCAGTCACCACTCGTGCAATAAGACATTTTCTAGCTACTTCAAACATTCCCCAGTACCTTCAGTTCCAGGATTTAAAATGCAAGAAAAAACATTTTTACTGCTGCTTAGTTTTTGGACTGAAAAGATATTAAAACTCAAGAAGGACCAAGAAGTTTTCA... | ATTACCTTGAAAATGGAAATTCCTGGATCAATGCCACCTCTCATTCAAGAAATGCTGGAGAATTCTGAAGGACATGAACCCTTGACCCCAAGTTCAAGTGGGAACACAGCAGAGCACAGTCCTAGCATCTCACCCAGCTCAGTGGAAAACAGTGGGGTCAGTCAGTCACCACTCGTGCAATAAGACATTTTCTAGCTACTTCAAACATTCCCCAGTACCTTCAGTTCCAGGATTTAAAATGCAAGAAAAAACATTTTTACTGCTGCTTAGTTTTTGGACTGAAAAGATATTAAAACTCAAGAAGGACCAAGAAGTTTTCA... | benign | 62,962 |
For chromosome 3, position 25620066, gene TOP2B (DNA topoisomerase II beta): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GAGTGGTGACTGGATGCCATACTGTGAACATAGGCTGATTCTGGGTGCAACCAGTCTGATTCCCAGGTAATATACATGTACCTCACAAAAACCACCACCACAACACCTTTTAATGGCAGACTCAGGAAAAAAGGTCAAGGAGACTGAGCTACCTTCTCACACCTGGAGTCATTTCTCCAGGCTCTGGTTGAGTCACACTGGCCAAGTGCTTTGTGGTGGGTGTGTACTATAAATTCCTGTACTTTATCTGTTCTGTGGATAAACAGAAGACTTTAGTCTCTAAATAGACAACTCAGCACCTTTAGTAGTACTAAATTTAA... | GAGTGGTGACTGGATGCCATACTGTGAACATAGGCTGATTCTGGGTGCAACCAGTCTGATTCCCAGGTAATATACATGTACCTCACAAAAACCACCACCACAACACCTTTTAATGGCAGACTCAGGAAAAAAGGTCAAGGAGACTGAGCTACCTTCTCACACCTGGAGTCATTTCTCCAGGCTCTGGTTGAGTCACACTGGCCAAGTGCTTTGTGGTGGGTGTGTACTATAAATTCCTGTACTTTATCTGTTCTGTGGATAAACAGAAGACTTTAGTCTCTAAATAGACAACTCAGCACCTTTAGTAGTACTAAATTTAA... | benign | 62,972 |
A genetic variant at chromosome 3, position 25638314, affecting gene TOP2B (DNA topoisomerase II beta)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CAAACCAAACAAATCCTTGATAATATTACAGACAAAAAAAAATAGTAAATACAGTCAGCCCTTGGGTAGCCACAGGTTCTACATTTGCAGATTCGACCAACTGCAGCTTAAAAATATTTGGGAAAAAATACAAATTTTTAAAATACAGCATAACTGTTCACATGGCATTTATACTGTATTACATATTATAAGTAATCTAGAGTTGATTTAAAGTACATGGGAGGATGTGTATAGGTTATATGCAAATACTACCCCATTTTATATAAGGGACTTGATCCTCCTCTGATTTTTGGTATAGAAAGGGCATCCCAGAACCAATC... | CAAACCAAACAAATCCTTGATAATATTACAGACAAAAAAAAATAGTAAATACAGTCAGCCCTTGGGTAGCCACAGGTTCTACATTTGCAGATTCGACCAACTGCAGCTTAAAAATATTTGGGAAAAAATACAAATTTTTAAAATACAGCATAACTGTTCACATGGCATTTATACTGTATTACATATTATAAGTAATCTAGAGTTGATTTAAAGTACATGGGAGGATGTGTATAGGTTATATGCAAATACTACCCCATTTTATATAAGGGACTTGATCCTCCTCTGATTTTTGGTATAGAAAGGGCATCCCAGAACCAATC... | benign | 62,984 |
Is the genetic mutation found on chromosome 3 at position 25638314, within the gene TOP2B (DNA topoisomerase II beta), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CAAACCAAACAAATCCTTGATAATATTACAGACAAAAAAAAATAGTAAATACAGTCAGCCCTTGGGTAGCCACAGGTTCTACATTTGCAGATTCGACCAACTGCAGCTTAAAAATATTTGGGAAAAAATACAAATTTTTAAAATACAGCATAACTGTTCACATGGCATTTATACTGTATTACATATTATAAGTAATCTAGAGTTGATTTAAAGTACATGGGAGGATGTGTATAGGTTATATGCAAATACTACCCCATTTTATATAAGGGACTTGATCCTCCTCTGATTTTTGGTATAGAAAGGGCATCCCAGAACCAATC... | CAAACCAAACAAATCCTTGATAATATTACAGACAAAAAAAAATAGTAAATACAGTCAGCCCTTGGGTAGCCACAGGTTCTACATTTGCAGATTCGACCAACTGCAGCTTAAAAATATTTGGGAAAAAATACAAATTTTTAAAATACAGCATAACTGTTCACATGGCATTTATACTGTATTACATATTATAAGTAATCTAGAGTTGATTTAAAGTACATGGGAGGATGTGTATAGGTTATATGCAAATACTACCCCATTTTATATAAGGGACTTGATCCTCCTCTGATTTTTGGTATAGAAAGGGCATCCCAGAACCAATC... | benign | 62,988 |
The mutation impacting TOP2B (DNA topoisomerase II beta) on chromosome 3 at position 25638314: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CAAACCAAACAAATCCTTGATAATATTACAGACAAAAAAAAATAGTAAATACAGTCAGCCCTTGGGTAGCCACAGGTTCTACATTTGCAGATTCGACCAACTGCAGCTTAAAAATATTTGGGAAAAAATACAAATTTTTAAAATACAGCATAACTGTTCACATGGCATTTATACTGTATTACATATTATAAGTAATCTAGAGTTGATTTAAAGTACATGGGAGGATGTGTATAGGTTATATGCAAATACTACCCCATTTTATATAAGGGACTTGATCCTCCTCTGATTTTTGGTATAGAAAGGGCATCCCAGAACCAATC... | CAAACCAAACAAATCCTTGATAATATTACAGACAAAAAAAAATAGTAAATACAGTCAGCCCTTGGGTAGCCACAGGTTCTACATTTGCAGATTCGACCAACTGCAGCTTAAAAATATTTGGGAAAAAATACAAATTTTTAAAATACAGCATAACTGTTCACATGGCATTTATACTGTATTACATATTATAAGTAATCTAGAGTTGATTTAAAGTACATGGGAGGATGTGTATAGGTTATATGCAAATACTACCCCATTTTATATAAGGGACTTGATCCTCCTCTGATTTTTGGTATAGAAAGGGCATCCCAGAACCAATC... | benign | 62,989 |
Does the variant on chromosome 3 at location 25638314 affecting gene TOP2B (DNA topoisomerase II beta) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CAAACCAAACAAATCCTTGATAATATTACAGACAAAAAAAAATAGTAAATACAGTCAGCCCTTGGGTAGCCACAGGTTCTACATTTGCAGATTCGACCAACTGCAGCTTAAAAATATTTGGGAAAAAATACAAATTTTTAAAATACAGCATAACTGTTCACATGGCATTTATACTGTATTACATATTATAAGTAATCTAGAGTTGATTTAAAGTACATGGGAGGATGTGTATAGGTTATATGCAAATACTACCCCATTTTATATAAGGGACTTGATCCTCCTCTGATTTTTGGTATAGAAAGGGCATCCCAGAACCAATC... | CAAACCAAACAAATCCTTGATAATATTACAGACAAAAAAAAATAGTAAATACAGTCAGCCCTTGGGTAGCCACAGGTTCTACATTTGCAGATTCGACCAACTGCAGCTTAAAAATATTTGGGAAAAAATACAAATTTTTAAAATACAGCATAACTGTTCACATGGCATTTATACTGTATTACATATTATAAGTAATCTAGAGTTGATTTAAAGTACATGGGAGGATGTGTATAGGTTATATGCAAATACTACCCCATTTTATATAAGGGACTTGATCCTCCTCTGATTTTTGGTATAGAAAGGGCATCCCAGAACCAATC... | benign | 62,990 |
Does the genetic variant at chromosome 3, position 25719533, impacting gene NGLY1 (N-glycanase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Congenital_disorder_of_deglycosylation', 'Congenital_disorder_of_deglycosylation_1'] | GCAGGGACATGGGGGAAGCTGGAAGCCATCATCCTTAGCAAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTGATAAGTGGGAGATGAACAATGAGAACACACGGACACAGGGAAGGGAACAACACACACCAGGGCCAGGCGGGGGGTGGGGTACAAGGGAAGGGAGAGCATTGGGACAAACAGTTTATGCATGCGGGGCTTAAAACCTAGATGACGGGTTGATAGGTGCAGCAAATCACCATGGCACACATATACCTATGTAACAAACCTATACGTTCTGCACTTGTATCCCAGAACTTAAAGTAAAATGAA... | GCAGGGACATGGGGGAAGCTGGAAGCCATCATCCTTAGCAAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTGATAAGTGGGAGATGAACAATGAGAACACACGGACACAGGGAAGGGAACAACACACACCAGGGCCAGGCGGGGGGTGGGGTACAAGGGAAGGGAGAGCATTGGGACAAACAGTTTATGCATGCGGGGCTTAAAACCTAGATGACGGGTTGATAGGTGCAGCAAATCACCATGGCACACATATACCTATGTAACAAACCTATACGTTCTGCACTTGTATCCCAGAACTTAAAGTAAAATGAA... | pathogenic | 62,993 |
Is the genetic variant on chromosome 3, position 25719605, gene NGLY1 (N-glycanase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Congenital_disorder_of_deglycosylation'] | TCTCACTGATAAGTGGGAGATGAACAATGAGAACACACGGACACAGGGAAGGGAACAACACACACCAGGGCCAGGCGGGGGGTGGGGTACAAGGGAAGGGAGAGCATTGGGACAAACAGTTTATGCATGCGGGGCTTAAAACCTAGATGACGGGTTGATAGGTGCAGCAAATCACCATGGCACACATATACCTATGTAACAAACCTATACGTTCTGCACTTGTATCCCAGAACTTAAAGTAAAATGAAAAATATGTATATATATTGAAAAGTATTCCCAAAAAAAGGGTGCAACTACCTTTTCTCTTTGACAGTTCAACT... | TCTCACTGATAAGTGGGAGATGAACAATGAGAACACACGGACACAGGGAAGGGAACAACACACACCAGGGCCAGGCGGGGGGTGGGGTACAAGGGAAGGGAGAGCATTGGGACAAACAGTTTATGCATGCGGGGCTTAAAACCTAGATGACGGGTTGATAGGTGCAGCAAATCACCATGGCACACATATACCTATGTAACAAACCTATACGTTCTGCACTTGTATCCCAGAACTTAAAGTAAAATGAAAAATATGTATATATATTGAAAAGTATTCCCAAAAAAAGGGTGCAACTACCTTTTCTCTTTGACAGTTCAACT... | pathogenic | 62,996 |
Classify the chromosome 3 variant at position 25719646 affecting gene NGLY1 (N-glycanase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CACAGGGAAGGGAACAACACACACCAGGGCCAGGCGGGGGGTGGGGTACAAGGGAAGGGAGAGCATTGGGACAAACAGTTTATGCATGCGGGGCTTAAAACCTAGATGACGGGTTGATAGGTGCAGCAAATCACCATGGCACACATATACCTATGTAACAAACCTATACGTTCTGCACTTGTATCCCAGAACTTAAAGTAAAATGAAAAATATGTATATATATTGAAAAGTATTCCCAAAAAAAGGGTGCAACTACCTTTTCTCTTTGACAGTTCAACTCTATAACAACATAAAACATTTGAACTCGAATAATGTTTTCT... | CACAGGGAAGGGAACAACACACACCAGGGCCAGGCGGGGGGTGGGGTACAAGGGAAGGGAGAGCATTGGGACAAACAGTTTATGCATGCGGGGCTTAAAACCTAGATGACGGGTTGATAGGTGCAGCAAATCACCATGGCACACATATACCTATGTAACAAACCTATACGTTCTGCACTTGTATCCCAGAACTTAAAGTAAAATGAAAAATATGTATATATATTGAAAAGTATTCCCAAAAAAAGGGTGCAACTACCTTTTCTCTTTGACAGTTCAACTCTATAACAACATAAAACATTTGAACTCGAATAATGTTTTCT... | benign | 62,997 |
Does the chromosome 3 mutation at position 25720017 within gene NGLY1 (N-glycanase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Congenital_disorder_of_deglycosylation', 'Congenital_disorder_of_deglycosylation_1'] | ATTCTATTACCATCTTTATAAAACTGCTTGAAAAGTTCTAGGTTTTTTCATGCTGGTTAACAGGATTAGCCCATATGATCATCAAAATACTCACTGTGCCAATAGCAGACACCACAAGACAGGTAAGTGTCAAGTTCTTCCAATCTTAAGTACTTGGCCACTATAGGTTAAAATTTTGAGTCTGAGAGTTCCAGAAAACGTTCTTATATTCAAGACATATTAATAATTTCAGATGCATAAACTTCTTTTGAAATATAACTTTTTAGCAAAAAATGATTCTCAACAGAGTTTTACTGCAATTATAAAGCAAATATTAGCTG... | ATTCTATTACCATCTTTATAAAACTGCTTGAAAAGTTCTAGGTTTTTTCATGCTGGTTAACAGGATTAGCCCATATGATCATCAAAATACTCACTGTGCCAATAGCAGACACCACAAGACAGGTAAGTGTCAAGTTCTTCCAATCTTAAGTACTTGGCCACTATAGGTTAAAATTTTGAGTCTGAGAGTTCCAGAAAACGTTCTTATATTCAAGACATATTAATAATTTCAGATGCATAAACTTCTTTTGAAATATAACTTTTTAGCAAAAAATGATTCTCAACAGAGTTTTACTGCAATTATAAAGCAAATATTAGCTG... | pathogenic | 63,000 |
Evaluate this variant at chromosome 3, position 25720080, gene NGLY1 (N-glycanase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Congenital_disorder_of_deglycosylation', 'Congenital_disorder_of_deglycosylation_1'] | GATTAGCCCATATGATCATCAAAATACTCACTGTGCCAATAGCAGACACCACAAGACAGGTAAGTGTCAAGTTCTTCCAATCTTAAGTACTTGGCCACTATAGGTTAAAATTTTGAGTCTGAGAGTTCCAGAAAACGTTCTTATATTCAAGACATATTAATAATTTCAGATGCATAAACTTCTTTTGAAATATAACTTTTTAGCAAAAAATGATTCTCAACAGAGTTTTACTGCAATTATAAAGCAAATATTAGCTGGGAGCAATGGCTCATGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGTGAGAGGGTTGCTTAA... | GATTAGCCCATATGATCATCAAAATACTCACTGTGCCAATAGCAGACACCACAAGACAGGTAAGTGTCAAGTTCTTCCAATCTTAAGTACTTGGCCACTATAGGTTAAAATTTTGAGTCTGAGAGTTCCAGAAAACGTTCTTATATTCAAGACATATTAATAATTTCAGATGCATAAACTTCTTTTGAAATATAACTTTTTAGCAAAAAATGATTCTCAACAGAGTTTTACTGCAATTATAAAGCAAATATTAGCTGGGAGCAATGGCTCATGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGTGAGAGGGTTGCTTAA... | pathogenic | 63,004 |
Regarding the variant at chromosome 3 and position 25729173, affecting gene NGLY1 (N-glycanase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Congenital_disorder_of_deglycosylation'] | TAGATGGAATACTTAAGTTATAACGACAATTGTTACTTCCGAGTTATCACTCTCTACAAGTAAAGATTCTAGTATTTTTCTTCATTTGATACTAAATACATGTAGCTAGAAAGAAATTCACTCAACTTAAAAAAAATGGTACCCTTCATAAAAGTATATCAAGGCATAAGCTTTACTTGAATAGGGGTGTGTTTTCTATTTAATGGCCTTTGTCTATCATTTACATTATTTAAATCTTTCTCACACTATAGCCCCTCTCTGGCTAAAATGTTCTATTTGGAGATCTTGAAATACGCCACGTACTCCATGCCTTTTTGTTT... | TAGATGGAATACTTAAGTTATAACGACAATTGTTACTTCCGAGTTATCACTCTCTACAAGTAAAGATTCTAGTATTTTTCTTCATTTGATACTAAATACATGTAGCTAGAAAGAAATTCACTCAACTTAAAAAAAATGGTACCCTTCATAAAAGTATATCAAGGCATAAGCTTTACTTGAATAGGGGTGTGTTTTCTATTTAATGGCCTTTGTCTATCATTTACATTATTTAAATCTTTCTCACACTATAGCCCCTCTCTGGCTAAAATGTTCTATTTGGAGATCTTGAAATACGCCACGTACTCCATGCCTTTTTGTTT... | pathogenic | 63,010 |
Chromosome 3, position 25729207, gene NGLY1 (N-glycanase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Congenital_disorder_of_deglycosylation', 'Congenital_disorder_of_deglycosylation_1', 'Intellectual_disability', 'Neuromotor_delay', 'Peripheral_neuropathy'] | ACTTCCGAGTTATCACTCTCTACAAGTAAAGATTCTAGTATTTTTCTTCATTTGATACTAAATACATGTAGCTAGAAAGAAATTCACTCAACTTAAAAAAAATGGTACCCTTCATAAAAGTATATCAAGGCATAAGCTTTACTTGAATAGGGGTGTGTTTTCTATTTAATGGCCTTTGTCTATCATTTACATTATTTAAATCTTTCTCACACTATAGCCCCTCTCTGGCTAAAATGTTCTATTTGGAGATCTTGAAATACGCCACGTACTCCATGCCTTTTTGTTTCCTTGCCTGATAAACACCTACTCAACCTCCAGTG... | ACTTCCGAGTTATCACTCTCTACAAGTAAAGATTCTAGTATTTTTCTTCATTTGATACTAAATACATGTAGCTAGAAAGAAATTCACTCAACTTAAAAAAAATGGTACCCTTCATAAAAGTATATCAAGGCATAAGCTTTACTTGAATAGGGGTGTGTTTTCTATTTAATGGCCTTTGTCTATCATTTACATTATTTAAATCTTTCTCACACTATAGCCCCTCTCTGGCTAAAATGTTCTATTTGGAGATCTTGAAATACGCCACGTACTCCATGCCTTTTTGTTTCCTTGCCTGATAAACACCTACTCAACCTCCAGTG... | pathogenic | 63,011 |
Variant at chromosome 3, position 25729255, gene NGLY1 (N-glycanase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Congenital_disorder_of_deglycosylation'] | CATTTGATACTAAATACATGTAGCTAGAAAGAAATTCACTCAACTTAAAAAAAATGGTACCCTTCATAAAAGTATATCAAGGCATAAGCTTTACTTGAATAGGGGTGTGTTTTCTATTTAATGGCCTTTGTCTATCATTTACATTATTTAAATCTTTCTCACACTATAGCCCCTCTCTGGCTAAAATGTTCTATTTGGAGATCTTGAAATACGCCACGTACTCCATGCCTTTTTGTTTCCTTGCCTGATAAACACCTACTCAACCTCCAGTGTCCAGCTCAAATGTCGTCTGCTCAGTGGAGCTTTGCCCAACTCCTACA... | CATTTGATACTAAATACATGTAGCTAGAAAGAAATTCACTCAACTTAAAAAAAATGGTACCCTTCATAAAAGTATATCAAGGCATAAGCTTTACTTGAATAGGGGTGTGTTTTCTATTTAATGGCCTTTGTCTATCATTTACATTATTTAAATCTTTCTCACACTATAGCCCCTCTCTGGCTAAAATGTTCTATTTGGAGATCTTGAAATACGCCACGTACTCCATGCCTTTTTGTTTCCTTGCCTGATAAACACCTACTCAACCTCCAGTGTCCAGCTCAAATGTCGTCTGCTCAGTGGAGCTTTGCCCAACTCCTACA... | pathogenic | 63,013 |
Located at chromosome 3 position 25732373, the variant affecting gene NGLY1 (N-glycanase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Congenital_disorder_of_deglycosylation'] | CCATTTCTAAAGGAAAAAATGATTTCTTTTTAAATCCATGGCCCTAAAATGGTCTCCAGCAATTAAGAAACTTAAAAAAAATTTCAAAAGGGAAAACAATGTGGTATGCAACCCAATTCATATTTTTAAAGTTAATCAACTTCCATGCCATGCAAGAGATAGCACACCCATGCATAAAAAGAAATGAAGACCTAAATAATATCCATGTTTTAAATTGAACACAGCTGCGAATTAAATTAGCTCTTTTTAACTGGCTGTATTTAGATTTATACTTGTAACACACTGCATTGGCAGTGATTTGAATTATTTGTTGAATTTGG... | CCATTTCTAAAGGAAAAAATGATTTCTTTTTAAATCCATGGCCCTAAAATGGTCTCCAGCAATTAAGAAACTTAAAAAAAATTTCAAAAGGGAAAACAATGTGGTATGCAACCCAATTCATATTTTTAAAGTTAATCAACTTCCATGCCATGCAAGAGATAGCACACCCATGCATAAAAAGAAATGAAGACCTAAATAATATCCATGTTTTAAATTGAACACAGCTGCGAATTAAATTAGCTCTTTTTAACTGGCTGTATTTAGATTTATACTTGTAACACACTGCATTGGCAGTGATTTGAATTATTTGTTGAATTTGG... | pathogenic | 63,018 |
Evaluate this variant at chromosome 3, position 25733889, gene NGLY1 (N-glycanase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Congenital_disorder_of_deglycosylation', 'Inborn_genetic_diseases'] | TTATAAAGCACAATAACAGGCAAAACTAATATATGATGTTAGAAGCCAGAATAATGATTACTTTCGAGGGTGTAAGGCAGTGGGGAAAGAAACTCACGCTTGTTTCTACGGTTCCAGTGATCTATTTCTTATTCTGGTTGGCGATTACATGGGTGTTAAATTTGTAAACATTCATTAAGCTGTACATTTATAATTTGTGCATTTTCCTGTATATTCTTCAGTAAAAGTTACACTGCACTAAAAATTTACATAAGGTAAAAAAAATTTTAAGTCCCATTTTAAAAATGCTTTGCTAACTCTTACACGATAATGCTATGTAA... | TTATAAAGCACAATAACAGGCAAAACTAATATATGATGTTAGAAGCCAGAATAATGATTACTTTCGAGGGTGTAAGGCAGTGGGGAAAGAAACTCACGCTTGTTTCTACGGTTCCAGTGATCTATTTCTTATTCTGGTTGGCGATTACATGGGTGTTAAATTTGTAAACATTCATTAAGCTGTACATTTATAATTTGTGCATTTTCCTGTATATTCTTCAGTAAAAGTTACACTGCACTAAAAATTTACATAAGGTAAAAAAAATTTTAAGTCCCATTTTAAAAATGCTTTGCTAACTCTTACACGATAATGCTATGTAA... | pathogenic | 63,022 |
Gene NGLY1 (N-glycanase 1) variant at chromosome position 25733939 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Congenital_disorder_of_deglycosylation'] | ATAATGATTACTTTCGAGGGTGTAAGGCAGTGGGGAAAGAAACTCACGCTTGTTTCTACGGTTCCAGTGATCTATTTCTTATTCTGGTTGGCGATTACATGGGTGTTAAATTTGTAAACATTCATTAAGCTGTACATTTATAATTTGTGCATTTTCCTGTATATTCTTCAGTAAAAGTTACACTGCACTAAAAATTTACATAAGGTAAAAAAAATTTTAAGTCCCATTTTAAAAATGCTTTGCTAACTCTTACACGATAATGCTATGTAAATCAATTACTGGTTCTCTTCAAATGTTTGCATTTTAAAATAATTACTCTC... | ATAATGATTACTTTCGAGGGTGTAAGGCAGTGGGGAAAGAAACTCACGCTTGTTTCTACGGTTCCAGTGATCTATTTCTTATTCTGGTTGGCGATTACATGGGTGTTAAATTTGTAAACATTCATTAAGCTGTACATTTATAATTTGTGCATTTTCCTGTATATTCTTCAGTAAAAGTTACACTGCACTAAAAATTTACATAAGGTAAAAAAAATTTTAAGTCCCATTTTAAAAATGCTTTGCTAACTCTTACACGATAATGCTATGTAAATCAATTACTGGTTCTCTTCAAATGTTTGCATTTTAAAATAATTACTCTC... | pathogenic | 63,025 |
Determine if the mutation at chromosome 3, position 25737468 in gene NGLY1 (N-glycanase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CACATAAAAAGATGCTCAGTATTATTTGTCATTAGGGAAGTACAAATAAAAACCATAATGAAATGCCACTACACACCTATTAAAGGGGATAAAATTAAAAAGTCAGATCATACTAAATGTTAGCAAGGACATGGAGAAACTGGAAACTTACATACTGCTTGCGAAAATGTAAAATGGCACAACCACGTTGGAAAATAGTTTAGTGGTTTCTTAAAAAGTTGTATGTATATCTACCATATAATGCAGCCATTCTACTCCTAGGCATTAAGCAAAGAGAAAAGGCAGCATATGCCCATATAAAGACTTGTGTGCCTGAGTGT... | CACATAAAAAGATGCTCAGTATTATTTGTCATTAGGGAAGTACAAATAAAAACCATAATGAAATGCCACTACACACCTATTAAAGGGGATAAAATTAAAAAGTCAGATCATACTAAATGTTAGCAAGGACATGGAGAAACTGGAAACTTACATACTGCTTGCGAAAATGTAAAATGGCACAACCACGTTGGAAAATAGTTTAGTGGTTTCTTAAAAAGTTGTATGTATATCTACCATATAATGCAGCCATTCTACTCCTAGGCATTAAGCAAAGAGAAAAGGCAGCATATGCCCATATAAAGACTTGTGTGCCTGAGTGT... | benign | 63,033 |
The mutation in gene NGLY1 (N-glycanase 1) at chromosome 3, position 25751271—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TCCAGCAGTTTCACTTCTGGGTGTATACCAAAAATAATTGAAACCAGGATTTCAGACTAAAGTATTTAAACACCCACGTTCATAGCAACATTATTCACAATAGCCAAAATATTGAAACAACCCAAGTATCCATGAATAAATGAATAAATGGATATGCAAAATGTGATATATACATAAACAGGACATTATTCACCTTAAAAAGGAAGGAAGCTCTCTCCTCCTCAGCACTGCCTACAGAGGTGGCAGCCATCTCCTCTTCGGCCTCATGGCCGCCCTCAGACCCCTTGTGAAGCCCAAGATCATCAAAAAGAGAACCAAGA... | TCCAGCAGTTTCACTTCTGGGTGTATACCAAAAATAATTGAAACCAGGATTTCAGACTAAAGTATTTAAACACCCACGTTCATAGCAACATTATTCACAATAGCCAAAATATTGAAACAACCCAAGTATCCATGAATAAATGAATAAATGGATATGCAAAATGTGATATATACATAAACAGGACATTATTCACCTTAAAAAGGAAGGAAGCTCTCTCCTCCTCAGCACTGCCTACAGAGGTGGCAGCCATCTCCTCTTCGGCCTCATGGCCGCCCTCAGACCCCTTGTGAAGCCCAAGATCATCAAAAAGAGAACCAAGA... | benign | 63,048 |
Does the variant impacting NGLY1 (N-glycanase 1) on chromosome 3, position 25751271, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TCCAGCAGTTTCACTTCTGGGTGTATACCAAAAATAATTGAAACCAGGATTTCAGACTAAAGTATTTAAACACCCACGTTCATAGCAACATTATTCACAATAGCCAAAATATTGAAACAACCCAAGTATCCATGAATAAATGAATAAATGGATATGCAAAATGTGATATATACATAAACAGGACATTATTCACCTTAAAAAGGAAGGAAGCTCTCTCCTCCTCAGCACTGCCTACAGAGGTGGCAGCCATCTCCTCTTCGGCCTCATGGCCGCCCTCAGACCCCTTGTGAAGCCCAAGATCATCAAAAAGAGAACCAAGA... | TCCAGCAGTTTCACTTCTGGGTGTATACCAAAAATAATTGAAACCAGGATTTCAGACTAAAGTATTTAAACACCCACGTTCATAGCAACATTATTCACAATAGCCAAAATATTGAAACAACCCAAGTATCCATGAATAAATGAATAAATGGATATGCAAAATGTGATATATACATAAACAGGACATTATTCACCTTAAAAAGGAAGGAAGCTCTCTCCTCCTCAGCACTGCCTACAGAGGTGGCAGCCATCTCCTCTTCGGCCTCATGGCCGCCCTCAGACCCCTTGTGAAGCCCAAGATCATCAAAAAGAGAACCAAGA... | benign | 63,049 |
Does the chromosome 3 mutation at position 25778642 within gene NGLY1 (N-glycanase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Congenital_disorder_of_deglycosylation', 'Congenital_disorder_of_deglycosylation_1'] | GCAAATTGGTCACAATTGTCCAAAGACAGGTGTTAGTTTCTCCCCTAAAACCTGCTACTCTCCAAGGCTTCTCTATCTCAATTAATGATACTCCCATCCAATTAGTTGCTTAAACCAAAACATAGGTAAGTCCCCGATTCCTTCCTTTCCCTTATATCTTACATCTAAATCACCAGTAAGTCCTGTTGATTCTGTCACAAAAAGAAATCCTGGATCCATCTACTTCTCTCCATCTCCACCATCAGTACTTAATTCAACAAATCTTTATTGAGTACCTAACATCTGTAATGCACCAGCATTATTCCAGGAGCTAGCAACAC... | GCAAATTGGTCACAATTGTCCAAAGACAGGTGTTAGTTTCTCCCCTAAAACCTGCTACTCTCCAAGGCTTCTCTATCTCAATTAATGATACTCCCATCCAATTAGTTGCTTAAACCAAAACATAGGTAAGTCCCCGATTCCTTCCTTTCCCTTATATCTTACATCTAAATCACCAGTAAGTCCTGTTGATTCTGTCACAAAAAGAAATCCTGGATCCATCTACTTCTCTCCATCTCCACCATCAGTACTTAATTCAACAAATCTTTATTGAGTACCTAACATCTGTAATGCACCAGCATTATTCCAGGAGCTAGCAACAC... | pathogenic | 63,056 |
Benign or pathogenic: chromosome 3, position 25783351, gene NGLY1 (N-glycanase 1) variant? Disease(s) if pathogenic? | pathogenic; ['Congenital_disorder_of_deglycosylation', 'Congenital_disorder_of_deglycosylation_1', 'Inborn_genetic_diseases'] | AGTAAAAGTATACTGCAAACAGGCTCCAGCAATGACAGTCACATCCAGTTCCTCAAATTCTTTTTCTTATTAAGTATGTTGAGTAAACTGACCGTGGTTTTGTGTATAGACTGATACCAAAGGCCTGACCCTAAAGCCCTCAAAGACTTAGAGGGCTGTAGGGACATTAGACTTCAAACCCATCATATCCTCTTTCCTATCCTTGGAAAAGCAACGCACAAAGACTTTCTTAAACTCTTAATTTCTCAGCATTATTCCAGTGTGTCCACTATCCTTTGCGCTCATTGTCACACCCCTCATCTTTCAGAATCTTGAAGCTG... | AGTAAAAGTATACTGCAAACAGGCTCCAGCAATGACAGTCACATCCAGTTCCTCAAATTCTTTTTCTTATTAAGTATGTTGAGTAAACTGACCGTGGTTTTGTGTATAGACTGATACCAAAGGCCTGACCCTAAAGCCCTCAAAGACTTAGAGGGCTGTAGGGACATTAGACTTCAAACCCATCATATCCTCTTTCCTATCCTTGGAAAAGCAACGCACAAAGACTTTCTTAAACTCTTAATTTCTCAGCATTATTCCAGTGTGTCCACTATCCTTTGCGCTCATTGTCACACCCCTCATCTTTCAGAATCTTGAAGCTG... | pathogenic | 63,061 |
Is the chromosome 3, position 30644922 variant in TGFBR2 (transforming growth factor beta receptor 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CTAAGCATAGAGCTCTTGGTCTGGGAGACACTGAGAATTTCAAAATAGCTTGTTACCTAAAAATAAACTTCCTGAAATGAACTTGAGGCCCGAGAGGGATGAATGGCTTTATTTTTTTCTTCTATATTTACTGTTACCACAAGAAAGCAAATCTTAAATTTATATACGTTTATATTTTTAGAGACCCAGGAAACAGGTGCTATGCCCAAGCTACAAAGACAGTTGCAGGGCAAAGTATCTATGACAGAATCCTAAAATTCACAGGACAGAGAGTGACTGTGGAAAGGCATTGAAAGTGTTCCTCTCTAGGCAAGAGCGGA... | CTAAGCATAGAGCTCTTGGTCTGGGAGACACTGAGAATTTCAAAATAGCTTGTTACCTAAAAATAAACTTCCTGAAATGAACTTGAGGCCCGAGAGGGATGAATGGCTTTATTTTTTTCTTCTATATTTACTGTTACCACAAGAAAGCAAATCTTAAATTTATATACGTTTATATTTTTAGAGACCCAGGAAACAGGTGCTATGCCCAAGCTACAAAGACAGTTGCAGGGCAAAGTATCTATGACAGAATCCTAAAATTCACAGGACAGAGAGTGACTGTGGAAAGGCATTGAAAGTGTTCCTCTCTAGGCAAGAGCGGA... | benign | 63,120 |
Clinical significance of chromosome 3, position 30693838, gene TGFBR2 (transforming growth factor beta receptor 2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | TGACATTGTCATAGGATAAGCTGTGTTAGCACTTCCTCAGGAAATGAGATTGATTTTTACAATAGCCAATAACATTTGCACTTTATTAATGCCTGTATATAAATATGAATAGCTATGTTTTATATATATATATATATATCTATATATGTCTATAGCTCTATATATATAGCCATACCTTGAAAAGAGACAAGGAAAAACATCAAATATTCCCAGGAAATTGGTTTTATTGGAGAACTCCAGAACCAAGCAGAGAAGGAAGGGACCCATGACAGCATTAGCATTTGACAATCACACATGCAGTGGTTCTCTGACTGTAAAAC... | TGACATTGTCATAGGATAAGCTGTGTTAGCACTTCCTCAGGAAATGAGATTGATTTTTACAATAGCCAATAACATTTGCACTTTATTAATGCCTGTATATAAATATGAATAGCTATGTTTTATATATATATATATATATCTATATATGTCTATAGCTCTATATATATAGCCATACCTTGAAAAGAGACAAGGAAAAACATCAAATATTCCCAGGAAATTGGTTTTATTGGAGAACTCCAGAACCAAGCAGAGAAGGAAGGGACCCATGACAGCATTAGCATTTGACAATCACACATGCAGTGGTTCTCTGACTGTAAAAC... | benign | 63,300 |
Evaluate this variant at chromosome 3, position 32140217, gene GPD1L (glycerol-3-phosphate dehydrogenase 1 like): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TGGCTGAAGCCCACTGGAAGCCAGAGAACAAGGGAGCCTGGGGAAATAGTTTAGAGAAAGCAGCCTCCTGAGAACAGAATGGGGCAGAGAAGAGCGGAAAATGGATGAGGGGGCTGGTGAGGTGGGAGAGCAACAGAGAGCAACCCACATAGTGTTATTAGAGGTGCCTTTTGCAGATAAGGCAGTTGAGGGGTGGAGAGGATAACTCACCTGCCCAGCTGGTGACAGAGGCAAACCCTCTGCTTCAGACCCCCATAAGGAATAAGGAAGGCAAAGCAAACACACTTGCCTTCCTTGTCTATCTGTGCAATGCTCTGCAC... | TGGCTGAAGCCCACTGGAAGCCAGAGAACAAGGGAGCCTGGGGAAATAGTTTAGAGAAAGCAGCCTCCTGAGAACAGAATGGGGCAGAGAAGAGCGGAAAATGGATGAGGGGGCTGGTGAGGTGGGAGAGCAACAGAGAGCAACCCACATAGTGTTATTAGAGGTGCCTTTTGCAGATAAGGCAGTTGAGGGGTGGAGAGGATAACTCACCTGCCCAGCTGGTGACAGAGGCAAACCCTCTGCTTCAGACCCCCATAAGGAATAAGGAAGGCAAAGCAAACACACTTGCCTTCCTTGTCTATCTGTGCAATGCTCTGCAC... | benign | 63,351 |
A genetic alteration at chromosome 3, position 32997072, in gene GLB1 (galactosidase beta 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['GLB1-related_disorder', 'GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'Mucopolysaccharidosis,_MPS-IV-B'] | GATAAGACAAAACACTCTGGCTTTGGAGGGAGGTAGGCCAGGTTTGAAATCAACTCTGCCTCTTGCCAAAGTTTTAAATATTTTCAATTGTAAAATGGACTTATTGCTATTTGACCTTACAGTGTAGTTCTGAAGACTGAATGAGTGAAATATAAGGCAAGTGTACACGCTGATGAGGCAACCACACTCCACTGCTCGTGCCTTCTGGAGATTCTCTGCTTGTCTCTAGGGCAGGGGAACTGCAATTCACCAATGTACATATGCTTTAAAAGGAGTCATTTCACATTTCTTTCCAAAGCTTATCACTGTTTGGCCATGGT... | GATAAGACAAAACACTCTGGCTTTGGAGGGAGGTAGGCCAGGTTTGAAATCAACTCTGCCTCTTGCCAAAGTTTTAAATATTTTCAATTGTAAAATGGACTTATTGCTATTTGACCTTACAGTGTAGTTCTGAAGACTGAATGAGTGAAATATAAGGCAAGTGTACACGCTGATGAGGCAACCACACTCCACTGCTCGTGCCTTCTGGAGATTCTCTGCTTGTCTCTAGGGCAGGGGAACTGCAATTCACCAATGTACATATGCTTTAAAAGGAGTCATTTCACATTTCTTTCCAAAGCTTATCACTGTTTGGCCATGGT... | pathogenic | 63,421 |
Is the genetic variant on chromosome 3, position 33014155, gene GLB1 (galactosidase beta 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | CCTCTGCATCCTCTCTCCTTGAGAGACCTCATCCAGCCCATGTTTTCAACAATCATCTATACAACAATGATCTTCTACATACATTCCTGGCCCAGATCCCTGCCCTGAATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATTAGTGTCCTCAT... | CCTCTGCATCCTCTCTCCTTGAGAGACCTCATCCAGCCCATGTTTTCAACAATCATCTATACAACAATGATCTTCTACATACATTCCTGGCCCAGATCCCTGCCCTGAATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATTAGTGTCCTCAT... | pathogenic | 63,435 |
Mutation at chromosome 3, position 33014188, within GLB1 (galactosidase beta 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | CAGCCCATGTTTTCAACAATCATCTATACAACAATGATCTTCTACATACATTCCTGGCCCAGATCCCTGCCCTGAATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATTAGTGTCCTCATAAAAGAGACCCAAGAGAGCTCCTTTGCCCCTTC... | CAGCCCATGTTTTCAACAATCATCTATACAACAATGATCTTCTACATACATTCCTGGCCCAGATCCCTGCCCTGAATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATTAGTGTCCTCATAAAAGAGACCCAAGAGAGCTCCTTTGCCCCTTC... | pathogenic | 63,436 |
A genetic alteration at chromosome 3, position 33014212, in gene GLB1 (galactosidase beta 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['GLB1-related_disorder', 'GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | TATACAACAATGATCTTCTACATACATTCCTGGCCCAGATCCCTGCCCTGAATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATTAGTGTCCTCATAAAAGAGACCCAAGAGAGCTCCTTTGCCCCTTCAGCCATGTAAGGACATAGAGGGTG... | TATACAACAATGATCTTCTACATACATTCCTGGCCCAGATCCCTGCCCTGAATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATTAGTGTCCTCATAAAAGAGACCCAAGAGAGCTCCTTTGCCCCTTCAGCCATGTAAGGACATAGAGGGTG... | pathogenic | 63,439 |
For chromosome 3, position 33014279, gene GLB1 (galactosidase beta 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['GM1_gangliosidosis', 'GM1_gangliosidosis_type_2', 'GM1_gangliosidosis_type_3', 'Infantile_GM1_gangliosidosis', 'Mucopolysaccharidosis,_MPS-IV-B'] | TCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATTAGTGTCCTCATAAAAGAGACCCAAGAGAGCTCCTTTGCCCCTTCAGCCATGTAAGGACATAGAGGGTGCTGTCTATGATGAAGTAGACTCTCACCAGACAGCAAATCTACTGGTGCCCTGATATTGAAGACTTCC... | TCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATTAGTGTCCTCATAAAAGAGACCCAAGAGAGCTCCTTTGCCCCTTCAGCCATGTAAGGACATAGAGGGTGCTGTCTATGATGAAGTAGACTCTCACCAGACAGCAAATCTACTGGTGCCCTGATATTGAAGACTTCC... | pathogenic | 63,445 |
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