question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Variant in gene GAA (alpha glucosidase), located at chromosome 17 position 80113269: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_II'] | AGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCT... | AGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCT... | pathogenic | 285,548 |
A genetic variant at chromosome 17, position 80113294, affecting gene GAA (alpha glucosidase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | CACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGG... | CACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGG... | pathogenic | 285,553 |
Evaluate this variant at chromosome 17, position 80113311, gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTAC... | GCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTAC... | pathogenic | 285,559 |
Classify the chromosome 17 variant at position 80113315 affecting gene GAA (alpha glucosidase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Glycogen_storage_disease,_type_II'] | AGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGG... | AGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGG... | pathogenic | 285,560 |
Variant at chromosome 17, position 80113333, gene GAA (alpha glucosidase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Glycogen_storage_disease,_type_II'] | CAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCT... | CAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCT... | pathogenic | 285,565 |
Determine if the mutation at chromosome 17, position 80113333 in gene GAA (alpha glucosidase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCT... | CAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCT... | pathogenic | 285,566 |
Does the variant impacting GAA (alpha glucosidase) on chromosome 17, position 80113344, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTT... | CGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTT... | pathogenic | 285,571 |
Is chromosome 17, position 80113360, gene GAA (alpha glucosidase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTA... | CATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTA... | pathogenic | 285,575 |
Is the genetic mutation found on chromosome 17 at position 80116994, within the gene GAA (alpha glucosidase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | ACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTG... | ACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTG... | pathogenic | 285,586 |
A mutation at chromosome position 80117014 on chromosome 17 in gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCA... | CGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCA... | pathogenic | 285,592 |
Assess the variant on chromosome 17, position 80117014, impacting GAA (alpha glucosidase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | CGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCA... | CGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCA... | pathogenic | 285,593 |
A genetic alteration at chromosome 17, position 80117035, in gene GAA (alpha glucosidase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Glycogen_storage_disease,_type_II'] | TCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCC... | TCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCC... | pathogenic | 285,599 |
Is the genetic mutation found on chromosome 17 at position 80117059, within the gene GAA (alpha glucosidase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | TCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTT... | TCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTT... | pathogenic | 285,603 |
The mutation impacting GAA (alpha glucosidase) on chromosome 17 at position 80117076: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_II'] | AAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCAT... | AAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCAT... | pathogenic | 285,608 |
Variant chromosome 17, position 80117634, gene GAA (alpha glucosidase): benign or pathogenic? Disease(s)? | pathogenic; ['Glycogen_storage_disease,_type_II'] | AATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGA... | AATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGA... | pathogenic | 285,626 |
Considering the genetic mutation at chromosome 17, position 80117644, impacting GAA (alpha glucosidase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_II'] | AACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAA... | AACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAA... | pathogenic | 285,628 |
Gene mutation in GAA (alpha glucosidase) at chromosome 17, position 80117652—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | TCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGC... | TCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGC... | pathogenic | 285,630 |
Chromosome 17, position 80117672, gene GAA (alpha glucosidase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Glycogen_storage_disease,_type_II'] | ACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTG... | ACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTG... | pathogenic | 285,632 |
Considering the variant on chromosome 17, location 80117693, involving gene GAA (alpha glucosidase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Glycogen_storage_disease,_type_II'] | TCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCAT... | TCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCAT... | pathogenic | 285,637 |
A genetic alteration at chromosome 17, position 80117699, in gene GAA (alpha glucosidase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Glycogen_storage_disease,_type_II'] | ACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTT... | ACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTT... | pathogenic | 285,640 |
A genetic alteration at chromosome 17, position 80118203, in gene GAA (alpha glucosidase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Glycogen_storage_disease,_type_II'] | AGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGG... | AGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGG... | pathogenic | 285,653 |
Considering the genetic mutation at chromosome 17, position 80118209, impacting GAA (alpha glucosidase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_II'] | ACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGA... | ACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGA... | pathogenic | 285,654 |
Variant on chromosome 17, at position 80118253, affecting GAA (alpha glucosidase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease', 'Glycogen_storage_disease,_type_II'] | AAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACA... | AAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACA... | pathogenic | 285,657 |
Does the genetic variant at chromosome 17, position 80118294, impacting gene GAA (alpha glucosidase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | GTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCT... | GTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCT... | pathogenic | 285,666 |
Gene mutation in GAA (alpha glucosidase) at chromosome 17, position 80118327—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | ACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTT... | ACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTT... | pathogenic | 285,671 |
Considering the variant on chromosome 17, location 80118660, involving gene GAA (alpha glucosidase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTC... | CGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTC... | pathogenic | 285,682 |
Is the genetic variant on chromosome 17, position 80118711, gene GAA (alpha glucosidase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTC... | GGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTC... | pathogenic | 285,687 |
Variant in GAA (alpha glucosidase), chromosome 17, position 80118747—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glycogen_storage_disease,_type_II'] | TCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGG... | TCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGG... | pathogenic | 285,691 |
Clinical significance of chromosome 17, position 80119283, gene GAA (alpha glucosidase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_II'] | GTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGG... | GTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGG... | pathogenic | 285,699 |
A genetic variant on chromosome 17, position 80119469, affects the gene GAA (alpha glucosidase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATC... | CAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATC... | benign | 285,706 |
The mutation impacting SGSH (N-sulfoglucosamine sulfohydrolase) on chromosome 17 at position 80210531: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | AACCTTGAACCCTCACCACGTGCAGGTCACACACAGTGAAGCCACTTGTAACTGCACACTTTTCTGTGGAAACATCTTCACCCTTTACCAGGCTTGGCATGGTCTGAACTGGAAACCCTGAGAATGTTTCTGCAGTGGGACAGGAGGGACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTG... | AACCTTGAACCCTCACCACGTGCAGGTCACACACAGTGAAGCCACTTGTAACTGCACACTTTTCTGTGGAAACATCTTCACCCTTTACCAGGCTTGGCATGGTCTGAACTGGAAACCCTGAGAATGTTTCTGCAGTGGGACAGGAGGGACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTG... | pathogenic | 285,833 |
The mutation impacting SGSH (N-sulfoglucosamine sulfohydrolase) on chromosome 17 at position 80210534: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'Mucopolysaccharidosis,_MPS-III-A'] | CTTGAACCCTCACCACGTGCAGGTCACACACAGTGAAGCCACTTGTAACTGCACACTTTTCTGTGGAAACATCTTCACCCTTTACCAGGCTTGGCATGGTCTGAACTGGAAACCCTGAGAATGTTTCTGCAGTGGGACAGGAGGGACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTC... | CTTGAACCCTCACCACGTGCAGGTCACACACAGTGAAGCCACTTGTAACTGCACACTTTTCTGTGGAAACATCTTCACCCTTTACCAGGCTTGGCATGGTCTGAACTGGAAACCCTGAGAATGTTTCTGCAGTGGGACAGGAGGGACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTC... | pathogenic | 285,835 |
Gene SGSH (N-sulfoglucosamine sulfohydrolase) variant at chromosome 17, position 80210615—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | TTACCAGGCTTGGCATGGTCTGAACTGGAAACCCTGAGAATGTTTCTGCAGTGGGACAGGAGGGACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTC... | TTACCAGGCTTGGCATGGTCTGAACTGGAAACCCTGAGAATGTTTCTGCAGTGGGACAGGAGGGACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTC... | pathogenic | 285,840 |
The mutation impacting SGSH (N-sulfoglucosamine sulfohydrolase) on chromosome 17 at position 80210657: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | TTTCTGCAGTGGGACAGGAGGGACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAG... | TTTCTGCAGTGGGACAGGAGGGACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAG... | pathogenic | 285,845 |
Variant in SGSH (N-sulfoglucosamine sulfohydrolase), chromosome 17, position 80210678—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Developmental_regression', 'Diarrhea', 'Gastrointestinal_dysmotility', 'Global_developmental_delay', 'Inborn_genetic_diseases', 'Mucopolysaccharidosis,_MPS-III-A', 'Nystagmus', 'Retinal_dystrophy', 'Severely_reduced_visual_acuity'] | GACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAG... | GACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAG... | pathogenic | 285,848 |
Variant in SGSH (N-sulfoglucosamine sulfohydrolase), chromosome 17, position 80210807—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | GGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCC... | GGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCC... | pathogenic | 285,854 |
Is chromosome 17, position 80210825, gene SGSH (N-sulfoglucosamine sulfohydrolase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A', 'Sanfilippo_syndrome'] | GAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCAC... | GAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCAC... | pathogenic | 285,857 |
Does the genetic variant at chromosome 17, position 80210857, impacting gene SGSH (N-sulfoglucosamine sulfohydrolase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | AAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTC... | AAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTC... | pathogenic | 285,862 |
Mutation at chromosome 17, position 80210880, within SGSH (N-sulfoglucosamine sulfohydrolase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Mucopolysaccharidosis', 'Mucopolysaccharidosis,_MPS-III-A'] | GGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGAC... | GGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGAC... | pathogenic | 285,865 |
Variant at chromosome position 80210933, chromosome 17, gene SGSH (N-sulfoglucosamine sulfohydrolase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases', 'Mucopolysaccharidosis,_MPS-III-A', 'Sanfilippo_syndrome'] | TCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACT... | TCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACT... | pathogenic | 285,867 |
Does the variant impacting SGSH (N-sulfoglucosamine sulfohydrolase) on chromosome 17, position 80210960, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | CAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAA... | CAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAA... | pathogenic | 285,868 |
Chromosome 17, position 80212110, gene SGSH (N-sulfoglucosamine sulfohydrolase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | AGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGC... | AGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGC... | pathogenic | 285,875 |
Benign or pathogenic: chromosome 17, position 80212262, gene SGSH (N-sulfoglucosamine sulfohydrolase) variant? Disease(s) if pathogenic? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | CCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCG... | CCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCG... | pathogenic | 285,880 |
The mutation in gene SGSH (N-sulfoglucosamine sulfohydrolase) at chromosome 17, position 80213843—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | CGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTT... | CGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTT... | pathogenic | 285,886 |
Variant on chromosome 17, at position 80213850, affecting SGSH (N-sulfoglucosamine sulfohydrolase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | AGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCT... | AGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCT... | pathogenic | 285,889 |
Clinically, how would you classify the variant at chromosome 17, position 80213878, gene SGSH (N-sulfoglucosamine sulfohydrolase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | GCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGC... | GCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGC... | pathogenic | 285,893 |
Benign or pathogenic: chromosome 17, position 80213921, gene SGSH (N-sulfoglucosamine sulfohydrolase) variant? Disease(s) if pathogenic? | benign | TGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGG... | TGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGG... | benign | 285,896 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 80213922, gene SGSH (N-sulfoglucosamine sulfohydrolase): what disease(s) if pathogenic? | benign | GTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGA... | GTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGA... | benign | 285,897 |
Is the variant located on chromosome 17 at position 80214667, gene SGSH (N-sulfoglucosamine sulfohydrolase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | GAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATC... | GAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATC... | pathogenic | 285,918 |
Gene SGSH (N-sulfoglucosamine sulfohydrolase) variant at chromosome position 80214722 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | CTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCA... | CTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCA... | pathogenic | 285,921 |
Clinical significance of chromosome 17, position 80214744, gene SGSH (N-sulfoglucosamine sulfohydrolase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | CCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACC... | CCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACC... | pathogenic | 285,922 |
Clinical classification of chromosome 17, position 80215084, gene SGSH (N-sulfoglucosamine sulfohydrolase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | AAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCC... | AAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCC... | pathogenic | 285,927 |
Clinical significance of chromosome 17, position 80215118, gene SGSH (N-sulfoglucosamine sulfohydrolase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | TGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACC... | TGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACC... | pathogenic | 285,929 |
Is the chromosome 17, position 80217064 variant in SGSH (N-sulfoglucosamine sulfohydrolase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | CGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGG... | CGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGG... | pathogenic | 285,941 |
Is the genetic variant on chromosome 17, position 80220265, gene SGSH (N-sulfoglucosamine sulfohydrolase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | AAGCTCTATGTGTGTGCGTCCCACCGCTGCTTCTCACTGATGCCATCTCAAAGGCCTAGTGACCTTGCAGGTTGTCTATTTCAACCCTTTCATCCTACACAAAGCAGCTGAGGCCCAGAAAGGTGAGGTGCAGTGCCCAGGGCCACACACTGGGCAGCAGGAAACAGGGACAGGCCGCTGAACTCCTACAACCACACCAAGCTTCTTCCCCCTGCTCTGGAGTAGAGGACACTGGGGGCACCACAGGAGAGGCTGGTGGGAACCCCCAGACCAACACTTTCCCCAGCTCCCTCAGAGGCAATGTGGTCCATGGATGGACA... | AAGCTCTATGTGTGTGCGTCCCACCGCTGCTTCTCACTGATGCCATCTCAAAGGCCTAGTGACCTTGCAGGTTGTCTATTTCAACCCTTTCATCCTACACAAAGCAGCTGAGGCCCAGAAAGGTGAGGTGCAGTGCCCAGGGCCACACACTGGGCAGCAGGAAACAGGGACAGGCCGCTGAACTCCTACAACCACACCAAGCTTCTTCCCCCTGCTCTGGAGTAGAGGACACTGGGGGCACCACAGGAGAGGCTGGTGGGAACCCCCAGACCAACACTTTCCCCAGCTCCCTCAGAGGCAATGTGGTCCATGGATGGACA... | pathogenic | 285,952 |
Gene SGSH variant at chromosome 17, position 80220297—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | CTCACTGATGCCATCTCAAAGGCCTAGTGACCTTGCAGGTTGTCTATTTCAACCCTTTCATCCTACACAAAGCAGCTGAGGCCCAGAAAGGTGAGGTGCAGTGCCCAGGGCCACACACTGGGCAGCAGGAAACAGGGACAGGCCGCTGAACTCCTACAACCACACCAAGCTTCTTCCCCCTGCTCTGGAGTAGAGGACACTGGGGGCACCACAGGAGAGGCTGGTGGGAACCCCCAGACCAACACTTTCCCCAGCTCCCTCAGAGGCAATGTGGTCCATGGATGGACAGAGGAGGCTGGGCACCTTCCAGTTGGGCTTCC... | CTCACTGATGCCATCTCAAAGGCCTAGTGACCTTGCAGGTTGTCTATTTCAACCCTTTCATCCTACACAAAGCAGCTGAGGCCCAGAAAGGTGAGGTGCAGTGCCCAGGGCCACACACTGGGCAGCAGGAAACAGGGACAGGCCGCTGAACTCCTACAACCACACCAAGCTTCTTCCCCCTGCTCTGGAGTAGAGGACACTGGGGGCACCACAGGAGAGGCTGGTGGGAACCCCCAGACCAACACTTTCCCCAGCTCCCTCAGAGGCAATGTGGTCCATGGATGGACAGAGGAGGCTGGGCACCTTCCAGTTGGGCTTCC... | pathogenic | 285,953 |
Is chromosome 17, position 81510872, gene ACTG1 (actin gamma 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AGCTGCAGCTTTCAACGCTTCGAGAGTGCGTGACTGTCCCTGGTCCCCATGCCCTGGCCAGTGCTCAGAACTACCCATCTCCTGATTTCTGCTCATCTGATAGCCACAAACTGGCATCTAATTTGTTTTAATGTGCATTTGCTGATGCCCAGTGTCCATGAGCATCTCACAGTTTGTCCTGTAAGTGCAATGCTTCACAGGACAAAGAGAATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACAGAACAAGGTAGGGTGGGAGCCTGGAGCTCAGTAAGCTCTCTGCAATTT... | AGCTGCAGCTTTCAACGCTTCGAGAGTGCGTGACTGTCCCTGGTCCCCATGCCCTGGCCAGTGCTCAGAACTACCCATCTCCTGATTTCTGCTCATCTGATAGCCACAAACTGGCATCTAATTTGTTTTAATGTGCATTTGCTGATGCCCAGTGTCCATGAGCATCTCACAGTTTGTCCTGTAAGTGCAATGCTTCACAGGACAAAGAGAATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACAGAACAAGGTAGGGTGGGAGCCTGGAGCTCAGTAAGCTCTCTGCAATTT... | benign | 286,160 |
Does the variant impacting MRPL12 (mitochondrial ribosomal protein L12) on chromosome 17, position 81704228, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TGGAGTGGTGATCTCCGCTCACTGCAAGCTCCGCCTCCTGGGTTCAAGCGATTCTCGGGCCTCAGCCTCCCGAGTAGCTGGACTACAGGTGCACCCCATTACCATGCCTGGCTAGTTTTTGTATTTTTAGTAGCGACGGTGTTTCACCATGTTGGCCAGGCTGGTCGTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGGCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGACCTGCATCAACGTTTGCTCAGGGGGCAGGTGGTCAGGCTGATGGCCCAGCTGCAGGCAGGGTCATTTCCAGCCT... | TGGAGTGGTGATCTCCGCTCACTGCAAGCTCCGCCTCCTGGGTTCAAGCGATTCTCGGGCCTCAGCCTCCCGAGTAGCTGGACTACAGGTGCACCCCATTACCATGCCTGGCTAGTTTTTGTATTTTTAGTAGCGACGGTGTTTCACCATGTTGGCCAGGCTGGTCGTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGGCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGACCTGCATCAACGTTTGCTCAGGGGGCAGGTGGTCAGGCTGATGGCCCAGCTGCAGGCAGGGTCATTTCCAGCCT... | benign | 286,349 |
Gene PYCR1 (pyrroline-5-carboxylate reductase 1) variant at chromosome position 81934320 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_cutis_laxa_type_2B', 'PYCR1-related_de_Barsy_syndrome'] | TATGTGTCCACTTGACTGGGCTACAGGGTGCCTGAGTGTTTGGTCAAACATTATTCTGTTTCTGGCAGGGGTGGGGAGGGGTTGCATGAGACTAACATTTGAATCTGTAGACTTTTGCATTAGATTACATTGACATTTTAATCAGTAAGGCAGATGCCCTCCAAGATGTGGGCGGGCCTTGTCTAATCAGTTGAAGGCCTCCACTATTCCACCCACAGTAACCACCCTCCCACACAGGCAGGGCCTCCCTCCTCATGTGGCAGACAGAAGTCAGGACACTGGGGGCTGGAAACCAACTTATAAAACTGAAAGGGCCAGGA... | TATGTGTCCACTTGACTGGGCTACAGGGTGCCTGAGTGTTTGGTCAAACATTATTCTGTTTCTGGCAGGGGTGGGGAGGGGTTGCATGAGACTAACATTTGAATCTGTAGACTTTTGCATTAGATTACATTGACATTTTAATCAGTAAGGCAGATGCCCTCCAAGATGTGGGCGGGCCTTGTCTAATCAGTTGAAGGCCTCCACTATTCCACCCACAGTAACCACCCTCCCACACAGGCAGGGCCTCCCTCCTCATGTGGCAGACAGAAGTCAGGACACTGGGGGCTGGAAACCAACTTATAAAACTGAAAGGGCCAGGA... | pathogenic | 286,439 |
The genetic variant at chromosome 17, position 81934710, affecting gene PYCR1 (pyrroline-5-carboxylate reductase 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cutis_laxa'] | CAAGGAGCCCTTTCCCCAAATGTCCATGGGATCTGCGTGCTTGGCAGCCAAGAGGGGCTGTGGCCCTTCACGCTGGACTTGGGATGCCTGGACCCTCTGGCCCTTCTCACACGGGAAGGAGAGGTTTCTCCCTGAATGGAGGGCAGGGAGGGGCCGGGAGGGGGCGTGGGATCCCACCTCTGCTGAGCCTTCACAGAGGGGGTCCTTGACCTTTGCTCTCAGGAAGGAGCCCGTGCCAGCTGATACTGGAGTAGGAGTGGGTGAAGACCCTCCGGGCTCCCGAGCTCTAGAGGAAGGTGGTCCTGACATGGTTTGGGAGC... | CAAGGAGCCCTTTCCCCAAATGTCCATGGGATCTGCGTGCTTGGCAGCCAAGAGGGGCTGTGGCCCTTCACGCTGGACTTGGGATGCCTGGACCCTCTGGCCCTTCTCACACGGGAAGGAGAGGTTTCTCCCTGAATGGAGGGCAGGGAGGGGCCGGGAGGGGGCGTGGGATCCCACCTCTGCTGAGCCTTCACAGAGGGGGTCCTTGACCTTTGCTCTCAGGAAGGAGCCCGTGCCAGCTGATACTGGAGTAGGAGTGGGTGAAGACCCTCCGGGCTCCCGAGCTCTAGAGGAAGGTGGTCCTGACATGGTTTGGGAGC... | pathogenic | 286,446 |
Variant at chromosome 17, position 81935079, gene PYCR1 (pyrroline-5-carboxylate reductase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_cutis_laxa_type_2B', 'PYCR1-related_de_Barsy_syndrome'] | GGAAGCACTTGCAGACCACAGAGATTTCCAGTGGGAAGTGATGTGGCCCCTCCCTGGCTATGTCCCTGGCTGGCCCCTGCGCTGATCAGAGCCACAGAAAGTGGGCCACTTTGGGGACCCCCTAGTCCCCCTAGTGACAAGAGAAGAGAAGGTGGTGGCAGGATGGTGGTCAGGCAGGACGTGTCAATCCTTGCCCGCTGGGGCCAGGCTGCGGGGGAGCAGCTTGGTGTGGCCAGAAGGTGACAGAGCGGTCCCTGCAGGGGAGTCCAGCTTCACCTTGTCCAGGATGGTCTTCTTGATGGCGGCTGGTGACACCTGCT... | GGAAGCACTTGCAGACCACAGAGATTTCCAGTGGGAAGTGATGTGGCCCCTCCCTGGCTATGTCCCTGGCTGGCCCCTGCGCTGATCAGAGCCACAGAAAGTGGGCCACTTTGGGGACCCCCTAGTCCCCCTAGTGACAAGAGAAGAGAAGGTGGTGGCAGGATGGTGGTCAGGCAGGACGTGTCAATCCTTGCCCGCTGGGGCCAGGCTGCGGGGGAGCAGCTTGGTGTGGCCAGAAGGTGACAGAGCGGTCCCTGCAGGGGAGTCCAGCTTCACCTTGTCCAGGATGGTCTTCTTGATGGCGGCTGGTGACACCTGCT... | pathogenic | 286,457 |
Is the chromosome 17, position 81936737 variant in PYCR1 (pyrroline-5-carboxylate reductase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CCTTGGAAGTCCCATCTTCACACCCCCATCAGCCAGGGCATCCAGGGCTGTGAATGCCTGTGGGGAGAAGGCACCCTGAGCCTCTCTCCTGGGCTTCTCCTCCTTCCCTTCTGGGCAAGCTCCAGTTCCCACAGCCTTGGAGCCCTCCACCCTGGCCCTCCCAGGGGGAGCAGGGACAGATGTGCCCGGTGGTCCCGGGAAGTGCCCGCCGCCGCCAGCTTCCCCCGCAGTCCTTACGTAGGCGGGGCCGCTGCCACTGAGCCCCGTGACGGCATCAATCAGGTCCTCTTCCACCTCCGTGCAGAAGCCCACGCTGCTCA... | CCTTGGAAGTCCCATCTTCACACCCCCATCAGCCAGGGCATCCAGGGCTGTGAATGCCTGTGGGGAGAAGGCACCCTGAGCCTCTCTCCTGGGCTTCTCCTCCTTCCCTTCTGGGCAAGCTCCAGTTCCCACAGCCTTGGAGCCCTCCACCCTGGCCCTCCCAGGGGGAGCAGGGACAGATGTGCCCGGTGGTCCCGGGAAGTGCCCGCCGCCGCCAGCTTCCCCCGCAGTCCTTACGTAGGCGGGGCCGCTGCCACTGAGCCCCGTGACGGCATCAATCAGGTCCTCTTCCACCTCCGTGCAGAAGCCCACGCTGCTCA... | benign | 286,470 |
Variant in FASN (fatty acid synthase), chromosome 17, position 82092678—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GGCCCCACTAGGCCATCTCCACCCCCGCGCCCCATCGACCCTCCCAGGTCTCCTGATAGGAAAGAAGCCCCTATGGCCCCCACACAGCCCCACTGAGACCCCTCCTCCCCTCCCGTCCTGCCCCCAGCACAAGGCTCTGCCTAGCAAAGGGGCTGTCAGGGGCCCCGGACTCAACACTGCAGCTCCTGGGCTCCAGGGAAAGCCAGAGCCCTGGGGCTGGCGTTGCTCACACGCTGGCAGGCTGGGCCCTACCTGGATGGCAGTCAGGCTCACAAACGAATGGACGATGTCATCAAAGGTGCTCTCGTCTGTGCTCAGCA... | GGCCCCACTAGGCCATCTCCACCCCCGCGCCCCATCGACCCTCCCAGGTCTCCTGATAGGAAAGAAGCCCCTATGGCCCCCACACAGCCCCACTGAGACCCCTCCTCCCCTCCCGTCCTGCCCCCAGCACAAGGCTCTGCCTAGCAAAGGGGCTGTCAGGGGCCCCGGACTCAACACTGCAGCTCCTGGGCTCCAGGGAAAGCCAGAGCCCTGGGGCTGGCGTTGCTCACACGCTGGCAGGCTGGGCCCTACCTGGATGGCAGTCAGGCTCACAAACGAATGGACGATGTCATCAAAGGTGCTCTCGTCTGTGCTCAGCA... | benign | 286,562 |
Variant on chromosome 17, at position 82586178, affecting FOXK2: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CGCTGCACAGCCCAAACTCGCTGTCATCCAGGAAGCCCGGTTTGCCCAGAGCGCCCCAGGTGAGACAGCGGGAGAGGAAGCGAGGGCCCCAACAGCGTGAGCCAGACGCGGACGCCTGGGCTCCACAGAGAAGAAACAGCCGGACTGGAGGCCTGCCTGTCCCTCTGTACCTTATACTAGTACCTGATTTTATAGGCCTTGGAAAACTAATAGCACTGGGAGTGTTTTTTAAAAATCAATGAAGGTTCTTTAAACGACACTGAGTAGATGCCTGAAATAACTTAGAATTAACCTGTTTCTTAGTTTGTCATTCAAAAATC... | CGCTGCACAGCCCAAACTCGCTGTCATCCAGGAAGCCCGGTTTGCCCAGAGCGCCCCAGGTGAGACAGCGGGAGAGGAAGCGAGGGCCCCAACAGCGTGAGCCAGACGCGGACGCCTGGGCTCCACAGAGAAGAAACAGCCGGACTGGAGGCCTGCCTGTCCCTCTGTACCTTATACTAGTACCTGATTTTATAGGCCTTGGAAAACTAATAGCACTGGGAGTGTTTTTTAAAAATCAATGAAGGTTCTTTAAACGACACTGAGTAGATGCCTGAAATAACTTAGAATTAACCTGTTTCTTAGTTTGTCATTCAAAAATC... | benign | 286,605 |
Gene mutation in TBCD (tubulin folding cofactor D) at chromosome 17, position 82797739—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GGATCGATTCTGTGGCCTCGCAGGGTGGGGTGCAGGGGGCCGTTTGTTACTGCCCTTTGATGCCTGGGCCTCTGCCGAGAAGACCACGTGGCAGGTGCCTTGAAGGGCTGGGTGCGGCAGGGGCCCTTGACTGAAGCTGGCTCTTCCTGCATGGCAGCCGGCTTCCCGGAGGGAGTGTCTCAAGGGGAGGTGTCTGGAGAGGCCCTGAAAGAGGCCGCCAGGCTTCTGACCTGGGATTGGGGGTCACTGGCATCACTCCTGCCTGCCTCTGTTGGTTGTGGCAGTTGGAAGCCTACCAAGGTGGTGGGTGAGGGACCCTT... | GGATCGATTCTGTGGCCTCGCAGGGTGGGGTGCAGGGGGCCGTTTGTTACTGCCCTTTGATGCCTGGGCCTCTGCCGAGAAGACCACGTGGCAGGTGCCTTGAAGGGCTGGGTGCGGCAGGGGCCCTTGACTGAAGCTGGCTCTTCCTGCATGGCAGCCGGCTTCCCGGAGGGAGTGTCTCAAGGGGAGGTGTCTGGAGAGGCCCTGAAAGAGGCCGCCAGGCTTCTGACCTGGGATTGGGGGTCACTGGCATCACTCCTGCCTGCCTCTGTTGGTTGTGGCAGTTGGAAGCCTACCAAGGTGGTGGGTGAGGGACCCTT... | benign | 286,631 |
Variant in TBCD (tubulin folding cofactor D), chromosome 17, position 82809706—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Early-onset_progressive_diffuse_brain_atrophy-microcephaly-muscle_weakness-optic_atrophy_syndrome', 'TBCD-related_disorder'] | GCAGCCAAGGGGTAGGTGTCTGTGGCCGCAGAAGCACCCCGGGGGGTGGGCCGGCCTCTCCTGTGCGATTCAGCAGCTACAAATACCCAACAGCTTTGGAGTGGCAGCGCGGCCCCCTCCTCGGCCCCCTCCAACTTATGTGTGTTGCTTTACGTGTTGGCGTGAAGATGGTTCCCGAGGCGGAGCTTCGGTCTCCTCCGTCCTCCTGCCTCTGGCTGGCCCTGCCGGGTCACGAGCAGGCCGGGTTTACCTGTTTATCTTCAAAATGTTCCCTTGCTTTTCCACATCCTCATCACTGTGCCCCCCACCTATCGTTCCCC... | GCAGCCAAGGGGTAGGTGTCTGTGGCCGCAGAAGCACCCCGGGGGGTGGGCCGGCCTCTCCTGTGCGATTCAGCAGCTACAAATACCCAACAGCTTTGGAGTGGCAGCGCGGCCCCCTCCTCGGCCCCCTCCAACTTATGTGTGTTGCTTTACGTGTTGGCGTGAAGATGGTTCCCGAGGCGGAGCTTCGGTCTCCTCCGTCCTCCTGCCTCTGGCTGGCCCTGCCGGGTCACGAGCAGGCCGGGTTTACCTGTTTATCTTCAAAATGTTCCCTTGCTTTTCCACATCCTCATCACTGTGCCCCCCACCTATCGTTCCCC... | pathogenic | 286,641 |
Chromosome 17, position 82929490, gene TBCD (tubulin folding cofactor D): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Early-onset_progressive_diffuse_brain_atrophy-microcephaly-muscle_weakness-optic_atrophy_syndrome', 'TBCD-related_disorder'] | GTTTTAAAGGCTCTGGGGAAGATGACCTGTTCTCTGCTCCCGGGTGAGCCTGCGTGGCAGGGCTTTGCAGGTGCTTGTCCAGCCCGTCCTCAGGTGTTGGGCCTGTGTCGTCCTCGTTGACAGGGTGTGAGGGAGGACGCGTCTTCAATGAAAGGCTGCCGGCTGCTTACATTGGGTTTTGCCAACATTTCTTGCTGTAGTGGGATTGATAACCCCTGAAACGCCTGTGTGTGTAGGATGCCTCGGGGCCCCGGTGTGTGTGGCTGTGGGTGGCTCCCTGCACACGTCCCTGTAGCGCACAGGGAACCTCTGCAGGCCCC... | GTTTTAAAGGCTCTGGGGAAGATGACCTGTTCTCTGCTCCCGGGTGAGCCTGCGTGGCAGGGCTTTGCAGGTGCTTGTCCAGCCCGTCCTCAGGTGTTGGGCCTGTGTCGTCCTCGTTGACAGGGTGTGAGGGAGGACGCGTCTTCAATGAAAGGCTGCCGGCTGCTTACATTGGGTTTTGCCAACATTTCTTGCTGTAGTGGGATTGATAACCCCTGAAACGCCTGTGTGTGTAGGATGCCTCGGGGCCCCGGTGTGTGTGGCTGTGGGTGGCTCCCTGCACACGTCCCTGTAGCGCACAGGGAACCTCTGCAGGCCCC... | pathogenic | 286,712 |
Is the genetic mutation found on chromosome 18 at position 2707835, within the gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Facioscapulohumeral_muscular_dystrophy_2'] | GGAGAGGTTCAAATTGCAATGGTAAGACAGCAAGTGATAAAACATACTGAAAGTTTCTTGATAACACTTTTGCATAATTGTTAAGATACAGTATATTTCGCTAGTGACTAGTTTTCCATTGGATAAAGTGGTTGTAGTTTTTGTGTGGATTTTTATGTGTCATAAGTTGATGTTTTTAATAATCTATACAATTTAACATCATATGCTCAGTTTTTGTAAACATATATACATTATAACTAGTTACCAAATTAATTTTATAAAGTCATATTTCCTCTAGGGCCCACTAACTAGTAAACATTGGAGCCAGAATTCTATCTCAG... | GGAGAGGTTCAAATTGCAATGGTAAGACAGCAAGTGATAAAACATACTGAAAGTTTCTTGATAACACTTTTGCATAATTGTTAAGATACAGTATATTTCGCTAGTGACTAGTTTTCCATTGGATAAAGTGGTTGTAGTTTTTGTGTGGATTTTTATGTGTCATAAGTTGATGTTTTTAATAATCTATACAATTTAACATCATATGCTCAGTTTTTGTAAACATATATACATTATAACTAGTTACCAAATTAATTTTATAAAGTCATATTTCCTCTAGGGCCCACTAACTAGTAAACATTGGAGCCAGAATTCTATCTCAG... | pathogenic | 286,797 |
Is the chromosome 18, position 2724884 variant in SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CATATATAAATTGCTTCACTAAAGTTTATGTTTTGACTGGATTTATTGCTGAAGTTGTTAAGGTGTTTATGTCTTACTCTATGTTCTTTTGCAAGTATGATATAATGTCTCTTAACAATTCATTATTTGAAATACTTCATTCTGTGTCTTCTGTCATCACTGTTTTCTCTTTTAGCGTTCTTAGTTATTGGATGTTGGACCTTCTGGATTTAATCCCCAATTTTTAAAAAAATGTTCTCAATCTTTTTGTTTCTGTTTTACTTTCTGATAAATTTTCTCGACCTTATGATTACTACCTTTCCATTGAATTTTTCCTTTCT... | CATATATAAATTGCTTCACTAAAGTTTATGTTTTGACTGGATTTATTGCTGAAGTTGTTAAGGTGTTTATGTCTTACTCTATGTTCTTTTGCAAGTATGATATAATGTCTCTTAACAATTCATTATTTGAAATACTTCATTCTGTGTCTTCTGTCATCACTGTTTTCTCTTTTAGCGTTCTTAGTTATTGGATGTTGGACCTTCTGGATTTAATCCCCAATTTTTAAAAAAATGTTCTCAATCTTTTTGTTTCTGTTTTACTTTCTGATAAATTTTCTCGACCTTATGATTACTACCTTTCCATTGAATTTTTCCTTTCT... | benign | 286,803 |
Determine if the mutation at chromosome 18, position 2732488 in gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Facioscapulohumeral_muscular_dystrophy_2'] | GATTACAGGCGTGAGCCACCGTGCCTGGCCCACAAAGGGATTTCTATATCATGTGCCAGTAGGATGCTTTTTATTGGTGATTCATCGTGGCTGATAGCAAAGCCAACATGGAGGCAAGAGCTGTAAACAATCTAAGGTTGTGGAGTGGGATAACAAATACTTAAGTAAAACTTCAAAGGTTGCTGAGTAGGGTAACAGATACTTAAGTAAAATACTTAAATGTGATTTCTTAGTAATTGATATGGTGATAGATAATCTAATTGGTTGATTAACTCATACTTTCCTACTAATTATACATCAGTTATTAACATAGCTTGAAC... | GATTACAGGCGTGAGCCACCGTGCCTGGCCCACAAAGGGATTTCTATATCATGTGCCAGTAGGATGCTTTTTATTGGTGATTCATCGTGGCTGATAGCAAAGCCAACATGGAGGCAAGAGCTGTAAACAATCTAAGGTTGTGGAGTGGGATAACAAATACTTAAGTAAAACTTCAAAGGTTGCTGAGTAGGGTAACAGATACTTAAGTAAAATACTTAAATGTGATTTCTTAGTAATTGATATGGTGATAGATAATCTAATTGGTTGATTAACTCATACTTTCCTACTAATTATACATCAGTTATTAACATAGCTTGAAC... | pathogenic | 286,817 |
A genetic alteration at chromosome 18, position 2732489, in gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Facioscapulohumeral_muscular_dystrophy_2', 'Inborn_genetic_diseases'] | ATTACAGGCGTGAGCCACCGTGCCTGGCCCACAAAGGGATTTCTATATCATGTGCCAGTAGGATGCTTTTTATTGGTGATTCATCGTGGCTGATAGCAAAGCCAACATGGAGGCAAGAGCTGTAAACAATCTAAGGTTGTGGAGTGGGATAACAAATACTTAAGTAAAACTTCAAAGGTTGCTGAGTAGGGTAACAGATACTTAAGTAAAATACTTAAATGTGATTTCTTAGTAATTGATATGGTGATAGATAATCTAATTGGTTGATTAACTCATACTTTCCTACTAATTATACATCAGTTATTAACATAGCTTGAACC... | ATTACAGGCGTGAGCCACCGTGCCTGGCCCACAAAGGGATTTCTATATCATGTGCCAGTAGGATGCTTTTTATTGGTGATTCATCGTGGCTGATAGCAAAGCCAACATGGAGGCAAGAGCTGTAAACAATCTAAGGTTGTGGAGTGGGATAACAAATACTTAAGTAAAACTTCAAAGGTTGCTGAGTAGGGTAACAGATACTTAAGTAAAATACTTAAATGTGATTTCTTAGTAATTGATATGGTGATAGATAATCTAATTGGTTGATTAACTCATACTTTCCTACTAATTATACATCAGTTATTAACATAGCTTGAACC... | pathogenic | 286,818 |
Determine whether the variant at chromosome 18, position 2732490, in gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Facioscapulohumeral_muscular_dystrophy_2'] | TTACAGGCGTGAGCCACCGTGCCTGGCCCACAAAGGGATTTCTATATCATGTGCCAGTAGGATGCTTTTTATTGGTGATTCATCGTGGCTGATAGCAAAGCCAACATGGAGGCAAGAGCTGTAAACAATCTAAGGTTGTGGAGTGGGATAACAAATACTTAAGTAAAACTTCAAAGGTTGCTGAGTAGGGTAACAGATACTTAAGTAAAATACTTAAATGTGATTTCTTAGTAATTGATATGGTGATAGATAATCTAATTGGTTGATTAACTCATACTTTCCTACTAATTATACATCAGTTATTAACATAGCTTGAACCT... | TTACAGGCGTGAGCCACCGTGCCTGGCCCACAAAGGGATTTCTATATCATGTGCCAGTAGGATGCTTTTTATTGGTGATTCATCGTGGCTGATAGCAAAGCCAACATGGAGGCAAGAGCTGTAAACAATCTAAGGTTGTGGAGTGGGATAACAAATACTTAAGTAAAACTTCAAAGGTTGCTGAGTAGGGTAACAGATACTTAAGTAAAATACTTAAATGTGATTTCTTAGTAATTGATATGGTGATAGATAATCTAATTGGTTGATTAACTCATACTTTCCTACTAATTATACATCAGTTATTAACATAGCTTGAACCT... | pathogenic | 286,819 |
Is the genetic mutation found on chromosome 18 at position 2738354, within the gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TAGAAGAAAACCTAGGAAATAGCCATTCTGGATGTCGGCCCTGGCAAAGAATTTATGACCAAGTCCCCAAAAGCAGTTACAACACAAACAAAAATTGACAAGTGGGACCTAATCAAACTAAACAGCTGCACAGCAAAAGAAACTACCAACAGTGTAAACAGACAGCCTACAGAATGGTAAAAAATATTAACAAGCTATATATTCTAAAAAGGTCTAATAACCAGAATCTATAAGGAACTTTAACAAGCAAAAAACAACCCCATTTAAAAAATGGGCAAAGGATATGAATAGATAACTTGTTAAGAGAAGACATACATGTG... | TAGAAGAAAACCTAGGAAATAGCCATTCTGGATGTCGGCCCTGGCAAAGAATTTATGACCAAGTCCCCAAAAGCAGTTACAACACAAACAAAAATTGACAAGTGGGACCTAATCAAACTAAACAGCTGCACAGCAAAAGAAACTACCAACAGTGTAAACAGACAGCCTACAGAATGGTAAAAAATATTAACAAGCTATATATTCTAAAAAGGTCTAATAACCAGAATCTATAAGGAACTTTAACAAGCAAAAAACAACCCCATTTAAAAAATGGGCAAAGGATATGAATAGATAACTTGTTAAGAGAAGACATACATGTG... | benign | 286,820 |
Variant at chromosome 18, position 2769706, gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic | TGGCTCAGTGCAACCTCCGCCTCCTGGGTTCAAACAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCCACCACACCCAGCTGATTTTTGTTTTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTTGTCTCGAACTCTGACCTCAGACGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTGTAGGCATGAGCCACCACACCCAGCAGCATAACCTGTTTCTCCTAGGCTACAAACCTGTACAGTATGTGACTGTACTGAACACTGTAGGTAATTTTAACATAATAGTATCTGTG... | TGGCTCAGTGCAACCTCCGCCTCCTGGGTTCAAACAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCCACCACACCCAGCTGATTTTTGTTTTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTTGTCTCGAACTCTGACCTCAGACGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTGTAGGCATGAGCCACCACACCCAGCAGCATAACCTGTTTCTCCTAGGCTACAAACCTGTACAGTATGTGACTGTACTGAACACTGTAGGTAATTTTAACATAATAGTATCTGTG... | pathogenic | 286,846 |
Does the variant on chromosome 18 at location 2769975 affecting gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TATGTGACTGTACTGAACACTGTAGGTAATTTTAACATAATAGTATCTGTGTATCTAAACATAGAAAAGGTATAGTAAAATACAGTATTATAATCTTTTGGGACCACCATTGTACATGTGGTCCTTTGTTAGTGAATTGTTATGTGGTGCATGACTGTATGTTAGATACATATAATTAAAGGACTGATATATTGAACAGATTTCTAAAACCTCCTAAGGAACTACTTGCAAATCAATTAAAAAAAAAAGACAAACCGGTAGAAAAATAAATGGGCAAAGAATATGAGCAGGCAATTAATGGAAAAGAAAATATAAATAAC... | TATGTGACTGTACTGAACACTGTAGGTAATTTTAACATAATAGTATCTGTGTATCTAAACATAGAAAAGGTATAGTAAAATACAGTATTATAATCTTTTGGGACCACCATTGTACATGTGGTCCTTTGTTAGTGAATTGTTATGTGGTGCATGACTGTATGTTAGATACATATAATTAAAGGACTGATATATTGAACAGATTTCTAAAACCTCCTAAGGAACTACTTGCAAATCAATTAAAAAAAAAAGACAAACCGGTAGAAAAATAAATGGGCAAAGAATATGAGCAGGCAATTAATGGAAAAGAAAATATAAATAAC... | benign | 286,848 |
Clinical impact (benign or pathogenic) of the variant at chromosome 18, location 2784406, gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1): what disease(s) if pathogenic? | benign | AAACTGTCTGTCCTTCTACCATAACTCTTCCCTCATGTTGCTTCTTAACAAGATAATAGAAAATCTATACATTTTAGTGTATTTATTTAAGATCATATTAGGCTGAGCATGATGGCTCATGCCTGTAATCTCAGCACTTTGAGAGGCCAAGGCAGGAATATCACTTGAAGGCAAGAGTTCGAGACCAGCCTGGGCAACATAGTGAGACGCCAACTCTACAAAGTTTAAAAAAAAAAAAGTAACCGGGCATGGTGGCCTACACCTGTAGTCCCAGCTATTCAGGTGGCTCAGTTGGGATAATTGTTTGAGCCCAGAAGTTG... | AAACTGTCTGTCCTTCTACCATAACTCTTCCCTCATGTTGCTTCTTAACAAGATAATAGAAAATCTATACATTTTAGTGTATTTATTTAAGATCATATTAGGCTGAGCATGATGGCTCATGCCTGTAATCTCAGCACTTTGAGAGGCCAAGGCAGGAATATCACTTGAAGGCAAGAGTTCGAGACCAGCCTGGGCAACATAGTGAGACGCCAACTCTACAAAGTTTAAAAAAAAAAAAGTAACCGGGCATGGTGGCCTACACCTGTAGTCCCAGCTATTCAGGTGGCTCAGTTGGGATAATTGTTTGAGCCCAGAAGTTG... | benign | 286,858 |
The mutation impacting LPIN2 (lipin 2) on chromosome 18 at position 2921656: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ACTAAGAAATTAAGGGCTCGTGGAGTTGTCACAGATGAGAGGAGGATGCTCTGTGGGGATCTTTCCCCAAAGAGGGCCAGGTTTATGGGACTGGGCTCAGTGGCTCTGGTGCATGGGCCCTGCAGGGGCGGGGGTCCTGCCCAACTTGGCCCACTGGAGCAGCTGACCCCTTCAGTGTAGCAGGAAATGAGGCGACCAGAGAAGAAACGTGCACAGGCAGCTTCAGCCAGCATCACTGACTGGGCCCGCAGCAGTTCAGGGACCCTGACATCTGAAGACAGCCCTGGTTACAGAAGCCACCTCAACTGCCCAGTGGAAAC... | ACTAAGAAATTAAGGGCTCGTGGAGTTGTCACAGATGAGAGGAGGATGCTCTGTGGGGATCTTTCCCCAAAGAGGGCCAGGTTTATGGGACTGGGCTCAGTGGCTCTGGTGCATGGGCCCTGCAGGGGCGGGGGTCCTGCCCAACTTGGCCCACTGGAGCAGCTGACCCCTTCAGTGTAGCAGGAAATGAGGCGACCAGAGAAGAAACGTGCACAGGCAGCTTCAGCCAGCATCACTGACTGGGCCCGCAGCAGTTCAGGGACCCTGACATCTGAAGACAGCCCTGGTTACAGAAGCCACCTCAACTGCCCAGTGGAAAC... | benign | 286,901 |
The chromosome 18, position 2923757 genetic variant in gene LPIN2 (lipin 2): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TCCTAAAATTTTAGTGCTCACAACCACCCAATTTCTTCAACCCTTTGTAACTGGAATCTTTCCTTCTCCTTCTTTGCCAGTCTGATAACTAAGAAAATTTGAGTGATGAAGTTTAGGGAAGGAGAAAACTTGACGGTTCCTAGAACCTGCCTTTCTTCACCAGGCCCGCCACATGGCAAGTGAGCAGTATGTGGTAGGACACCACCAGGGACCAAAGAACTGGGAGAGGCGTGGCGGCTCCAACATCTGACTTCTGTTCCCACACATCCCCCCACCTTGGGCCCAGCCCCGCCCACATGCTGGGGCGGTGGGCAGAGGGC... | TCCTAAAATTTTAGTGCTCACAACCACCCAATTTCTTCAACCCTTTGTAACTGGAATCTTTCCTTCTCCTTCTTTGCCAGTCTGATAACTAAGAAAATTTGAGTGATGAAGTTTAGGGAAGGAGAAAACTTGACGGTTCCTAGAACCTGCCTTTCTTCACCAGGCCCGCCACATGGCAAGTGAGCAGTATGTGGTAGGACACCACCAGGGACCAAAGAACTGGGAGAGGCGTGGCGGCTCCAACATCTGACTTCTGTTCCCACACATCCCCCCACCTTGGGCCCAGCCCCGCCCACATGCTGGGGCGGTGGGCAGAGGGC... | benign | 286,911 |
Considering the genetic mutation at chromosome 18, position 2934413, impacting LPIN2 (lipin 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autoinflammatory_syndrome', 'Majeed_syndrome'] | TCTTTGAGCAGTAGGTGGCAGCAGACTACAGATTATGTTTTAACTAGGTAACAGTTTCAAAACCTGTTTCCCATTTGAATCAACAAAAAAATTCAGGTTTTTGGATATTTTTTCCTCTTAATAGCCATGCACACTCATACCCACAAAATTGAGATTAACTGGACTGACAGAATGTTCTCACTGGAAACACAAAGTCAGCAGAACTGTTGTTATACTGGGAGTGAGGGGCAAGGCCAACCCTTCTGTGTTCACCACACCTGTCTCCTCTTTCTCCGGGGCACACGGCGAGGCCCCCTTGCAGTCAGGTGGGGCCACGTGAG... | TCTTTGAGCAGTAGGTGGCAGCAGACTACAGATTATGTTTTAACTAGGTAACAGTTTCAAAACCTGTTTCCCATTTGAATCAACAAAAAAATTCAGGTTTTTGGATATTTTTTCCTCTTAATAGCCATGCACACTCATACCCACAAAATTGAGATTAACTGGACTGACAGAATGTTCTCACTGGAAACACAAAGTCAGCAGAACTGTTGTTATACTGGGAGTGAGGGGCAAGGCCAACCCTTCTGTGTTCACCACACCTGTCTCCTCTTTCTCCGGGGCACACGGCGAGGCCCCCTTGCAGTCAGGTGGGGCCACGTGAG... | pathogenic | 286,937 |
Regarding the variant found on chromosome 18 at position 2934456 in gene LPIN2 (lipin 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CTAGGTAACAGTTTCAAAACCTGTTTCCCATTTGAATCAACAAAAAAATTCAGGTTTTTGGATATTTTTTCCTCTTAATAGCCATGCACACTCATACCCACAAAATTGAGATTAACTGGACTGACAGAATGTTCTCACTGGAAACACAAAGTCAGCAGAACTGTTGTTATACTGGGAGTGAGGGGCAAGGCCAACCCTTCTGTGTTCACCACACCTGTCTCCTCTTTCTCCGGGGCACACGGCGAGGCCCCCTTGCAGTCAGGTGGGGCCACGTGAGCACATGACTGAGCCGTGAATATGGACGGAAGGCATACATGGTG... | CTAGGTAACAGTTTCAAAACCTGTTTCCCATTTGAATCAACAAAAAAATTCAGGTTTTTGGATATTTTTTCCTCTTAATAGCCATGCACACTCATACCCACAAAATTGAGATTAACTGGACTGACAGAATGTTCTCACTGGAAACACAAAGTCAGCAGAACTGTTGTTATACTGGGAGTGAGGGGCAAGGCCAACCCTTCTGTGTTCACCACACCTGTCTCCTCTTTCTCCGGGGCACACGGCGAGGCCCCCTTGCAGTCAGGTGGGGCCACGTGAGCACATGACTGAGCCGTGAATATGGACGGAAGGCATACATGGTG... | benign | 286,938 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 18, position 2939614, gene LPIN2 (lipin 2). What disease(s) is it linked to if pathogenic? | benign | AAAAAAGTGCGACGGGTTTCGACTGGTGAATACAAATACAGAGGCAGCCATCACGTTATGTGGAACACTGAAATAATTTACCATCTAATTTGAGAGTACCTGGAGCCAAATTAAACAAACGATTACCTTTCTTCTTTGACGGCGAGTCTACTTTAGCTGCCGGTTTGGATTCTGAGGGCGCCTCCGCTAAGGCTGCGTTGGGAAGGTGGTCAGCATCTAACATAGATGAAATCTGAGTACTCTCAAGAGGAGGTTCGAGAAGCTCTGCCACAGATGTTGGGTCGCTCATCTGTGTACCCAGGGCTCTGGGTTTGGGCTTC... | AAAAAAGTGCGACGGGTTTCGACTGGTGAATACAAATACAGAGGCAGCCATCACGTTATGTGGAACACTGAAATAATTTACCATCTAATTTGAGAGTACCTGGAGCCAAATTAAACAAACGATTACCTTTCTTCTTTGACGGCGAGTCTACTTTAGCTGCCGGTTTGGATTCTGAGGGCGCCTCCGCTAAGGCTGCGTTGGGAAGGTGGTCAGCATCTAACATAGATGAAATCTGAGTACTCTCAAGAGGAGGTTCGAGAAGCTCTGCCACAGATGTTGGGTCGCTCATCTGTGTACCCAGGGCTCTGGGTTTGGGCTTC... | benign | 286,953 |
Assess the variant on chromosome 18, position 2940582, impacting LPIN2 (lipin 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GTGTACGTTAAATGTTCTACTGTGAAGTTATACTGGAGAAGACTGAGGAAACTGACAATTTTCAGTTACTAAGAAGTAGAAAATACTCATTTTGGGGGAGAAAACTAAATGAAAATTTCACCCTCCTTGGACCACATCAAGGCTCTGTTAAAACAGTGTAAAAGTGGCAAGTCTAAATTCGATCACAAATATATGCAAAATGTATATTTTAAAAACCTAAATTCAACAGAAGATCTAAACATTTTCTCTCTCAAGAAATTTATCTTCTCAGTTCTTTCTTCTTTCATTATGAGCTGGAAAAAAAGGTTTAACAATTTCTT... | GTGTACGTTAAATGTTCTACTGTGAAGTTATACTGGAGAAGACTGAGGAAACTGACAATTTTCAGTTACTAAGAAGTAGAAAATACTCATTTTGGGGGAGAAAACTAAATGAAAATTTCACCCTCCTTGGACCACATCAAGGCTCTGTTAAAACAGTGTAAAAGTGGCAAGTCTAAATTCGATCACAAATATATGCAAAATGTATATTTTAAAAACCTAAATTCAACAGAAGATCTAAACATTTTCTCTCTCAAGAAATTTATCTTCTCAGTTCTTTCTTCTTTCATTATGAGCTGGAAAAAAAGGTTTAACAATTTCTT... | benign | 286,955 |
The mutation impacting LPIN2 (lipin 2) on chromosome 18 at position 2951449: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAAATTTTGTAAATATAGTGTACTCTGGTTTGTAGAGCTTAACATACTTTTCCACTATTGCTTTCCATCTTTTGTTGTTTAGTTCTATTGGAGAAATTCTGCATTCTATCAGAACTGAAATCAAAGTGTTACATATTCAGCGTGGGAGGAGTAAGACAGAACACCACAGACATGACAGCTAGTGAGCAATAAAACAAGAGGAGTAGAAAAAAATTTCATGTATTAAAAATGGCTATGTTACTTATAATATCGAATTGTAAAAAATTACTATCAAATATAGATGTTTAATTCTAAGATTTAAAATCTAGATTTCAAAATTT... | AAAATTTTGTAAATATAGTGTACTCTGGTTTGTAGAGCTTAACATACTTTTCCACTATTGCTTTCCATCTTTTGTTGTTTAGTTCTATTGGAGAAATTCTGCATTCTATCAGAACTGAAATCAAAGTGTTACATATTCAGCGTGGGAGGAGTAAGACAGAACACCACAGACATGACAGCTAGTGAGCAATAAAACAAGAGGAGTAGAAAAAAATTTCATGTATTAAAAATGGCTATGTTACTTATAATATCGAATTGTAAAAAATTACTATCAAATATAGATGTTTAATTCTAAGATTTAAAATCTAGATTTCAAAATTT... | benign | 286,965 |
Variant in gene LPIN2 (lipin 2), located at chromosome 18 position 2960705: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Majeed_syndrome'] | GTAGGAGGAAAAAAATTCTCTTTTCCTGTGTCTCATGAGTACATTCCTATTAAAAATGCAACGTTTTGACAAGATAGTAACACAACGATTGTGTAGCTTTTGCACAGGAATTGTATTATTTCCTAAATTAGAGGCACACAGCAAGCAGGAAAAGGTGTTTTATCTACTTGGTCACCATTTACAGATGCATACATGCTTATAAATACATCTGCCTTCAGGTTCCATTTTGAAAGGCCAGACACTGATCCAATGTGATAAAAAACAATCTCAGCAAAAAAAAAAAATAATGATGATGATACCTTATCAGCAGTTTTACAATA... | GTAGGAGGAAAAAAATTCTCTTTTCCTGTGTCTCATGAGTACATTCCTATTAAAAATGCAACGTTTTGACAAGATAGTAACACAACGATTGTGTAGCTTTTGCACAGGAATTGTATTATTTCCTAAATTAGAGGCACACAGCAAGCAGGAAAAGGTGTTTTATCTACTTGGTCACCATTTACAGATGCATACATGCTTATAAATACATCTGCCTTCAGGTTCCATTTTGAAAGGCCAGACACTGATCCAATGTGATAAAAAACAATCTCAGCAAAAAAAAAAAATAATGATGATGATACCTTATCAGCAGTTTTACAATA... | pathogenic | 286,968 |
Determine whether the variant at chromosome 18, position 3067274, in gene MYOM1 (myomesin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CTGGGCGCAGGGGTCTTAGGGCACACTTTGATTTCATACATTTTTGCACAATTTCAGAATTTGGAATACACTGTTTTAAAATTTTGTTTCCACCTGATTCAACACCCGTCTTGCTTTCTCCCCAGTCTGGGATCCAGCAGGTGGAAATTAGGGAAGGGGTGGGAGGTGCTGCTTGCAGAAACCTCACCTCTCTGACACTGGGAGCTCTGTTGCTGGCTTTTTGAGGGGTGTGGTGGGGGCTTTTCGGAGAGTCTTAGGGGCCTCTCGCTTGCACAGCCCTTGGCCCTTGGCATGGGAGGTCTGCCGCCGCTTGAACCTTT... | CTGGGCGCAGGGGTCTTAGGGCACACTTTGATTTCATACATTTTTGCACAATTTCAGAATTTGGAATACACTGTTTTAAAATTTTGTTTCCACCTGATTCAACACCCGTCTTGCTTTCTCCCCAGTCTGGGATCCAGCAGGTGGAAATTAGGGAAGGGGTGGGAGGTGCTGCTTGCAGAAACCTCACCTCTCTGACACTGGGAGCTCTGTTGCTGGCTTTTTGAGGGGTGTGGTGGGGGCTTTTCGGAGAGTCTTAGGGGCCTCTCGCTTGCACAGCCCTTGGCCCTTGGCATGGGAGGTCTGCCGCCGCTTGAACCTTT... | benign | 286,975 |
Regarding the variant at chromosome 18 and position 3129532, affecting gene MYOM1 (myomesin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TTATTAGGAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAATCACCACACCTGGCCCAGAATTTCCATATATTTCTCAAATGGTTAGCCTTTCACCATTCAGGCACACTTACCCTTGTGAGACCTTACAACTACACAACTCTGTCTGCACACAAGAAAAAAATTTACTCTAGAGCTCAGCTAAATGACAGCTTTAGAAAACATTTTTAAAAAACAGACACAATCTGCTATGTGACTTTCTCTTAGTGTATA... | TTATTAGGAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAATCACCACACCTGGCCCAGAATTTCCATATATTTCTCAAATGGTTAGCCTTTCACCATTCAGGCACACTTACCCTTGTGAGACCTTACAACTACACAACTCTGTCTGCACACAAGAAAAAAATTTACTCTAGAGCTCAGCTAAATGACAGCTTTAGAAAACATTTTTAAAAAACAGACACAATCTGCTATGTGACTTTCTCTTAGTGTATA... | benign | 287,118 |
Mutation at chromosome 18, position 3164452, within MYOM1 (myomesin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TTTACTTGCCCTGCTTTCCCTACCCAAGGAAACTCCAATAAAGGGCTTGGTCTAGGCACTCCTTTGCTCCTCCTGCCCCTTCTGACTCATGACTGACACTGGCACTTTCCCACGTGTCCCAGCTGTTCCTGTTCTAGGACCTGTGAGTATTATAAACATTGTTTTCTTGTGCCTCTACTAGATCTCTTCTTATGACTGCACCTGACTAATCATGCCATAAAAAAACACAGAACACTACCCTGGTAGCCTAAAAGTGCTAATGGTCTTCCCAAGTGCTAGGATCCCGTGGAGGAATAATATTCCACATGTGCATATCCAAT... | TTTACTTGCCCTGCTTTCCCTACCCAAGGAAACTCCAATAAAGGGCTTGGTCTAGGCACTCCTTTGCTCCTCCTGCCCCTTCTGACTCATGACTGACACTGGCACTTTCCCACGTGTCCCAGCTGTTCCTGTTCTAGGACCTGTGAGTATTATAAACATTGTTTTCTTGTGCCTCTACTAGATCTCTTCTTATGACTGCACCTGACTAATCATGCCATAAAAAAACACAGAACACTACCCTGGTAGCCTAAAAGTGCTAATGGTCTTCCCAAGTGCTAGGATCCCGTGGAGGAATAATATTCCACATGTGCATATCCAAT... | benign | 287,178 |
Clinical impact (benign or pathogenic) of the variant at chromosome 18, location 3452224, gene TGIF1 (TGFB induced factor homeobox 1): what disease(s) if pathogenic? | benign | TGACAGCGCCGAGGTGCGCCGAGCAGGAGCAGGGAACAAAGGAGCGGAGAGGGGAGGGGAGAGAGTTGGGCGAGGGAGAGCCCCCGGCCGGCTGCCAGAAGATCCCGGCGGGAGGAAGCCCAAGTGTCACTTGAATTCCACCCAAGGAGCGGGCGCCTGGGATCAGAGCGTCCTGTTTAGCAATAACGGCTGGAGCACGTCCTACAAGTTACGGGAGAGTCGGCTGTGAAGGAGACGTTCGCTTATCCCCTGTGTCCCCGCTCCTGGCCCCTCCAGACCCCCGCCTTGCCTCGCGCTGGGAGGGGAGATCCAGAATGAAA... | TGACAGCGCCGAGGTGCGCCGAGCAGGAGCAGGGAACAAAGGAGCGGAGAGGGGAGGGGAGAGAGTTGGGCGAGGGAGAGCCCCCGGCCGGCTGCCAGAAGATCCCGGCGGGAGGAAGCCCAAGTGTCACTTGAATTCCACCCAAGGAGCGGGCGCCTGGGATCAGAGCGTCCTGTTTAGCAATAACGGCTGGAGCACGTCCTACAAGTTACGGGAGAGTCGGCTGTGAAGGAGACGTTCGCTTATCCCCTGTGTCCCCGCTCCTGGCCCCTCCAGACCCCCGCCTTGCCTCGCGCTGGGAGGGGAGATCCAGAATGAAA... | benign | 287,273 |
Variant at chromosome position 3458204, chromosome 18, gene TGIF1 (TGFB induced factor homeobox 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TGGTTGAGAGCCTCCTATGTGGTGCTAGTCAAACTACTTTTACTTGGACCCTGAATTCAGGACAGAAAACACTGCTCCTTCTCCTCGCTCTCAGTTGTTGGGAAAGCATGGTTACATTGAATGGTCAGCGTTAAGTGAGCTTTGCAATAGTTGCTGTGCTTATAAAGCAACTGACAACTGGCCCTTGTCCTTTCCTAGGTATTGTTGCAGCATCTGGCAGTGAGACTGAGGATGAGGACAGCATGGACATTCCCTTGGACCTTTCTTCATCCGCTGGCTCAGGCAAGAGAAGGAGAAGGGGCAACCTACCCAAGGAGTCT... | TGGTTGAGAGCCTCCTATGTGGTGCTAGTCAAACTACTTTTACTTGGACCCTGAATTCAGGACAGAAAACACTGCTCCTTCTCCTCGCTCTCAGTTGTTGGGAAAGCATGGTTACATTGAATGGTCAGCGTTAAGTGAGCTTTGCAATAGTTGCTGTGCTTATAAAGCAACTGACAACTGGCCCTTGTCCTTTCCTAGGTATTGTTGCAGCATCTGGCAGTGAGACTGAGGATGAGGACAGCATGGACATTCCCTTGGACCTTTCTTCATCCGCTGGCTCAGGCAAGAGAAGGAGAAGGGGCAACCTACCCAAGGAGTCT... | benign | 287,290 |
Mutation found at chromosome 18 position 6947269, gene LAMA1 (laminin subunit alpha 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Ataxia_-_intellectual_disability_-_oculomotor_apraxia_-_cerebellar_cysts_syndrome'] | AAAAACATGCAAATAGATACAAAAGTTTTTAAAGTATAGATGAGGGAAAAAGTTGGCTGTAAGTCAGTGTAGAGAGGCAGCAATATGACATCAAGTTAGTTCTGGTTTGTCATGAATCGGAAAAGAGGTGAAGGGCAAAAGGTCAGACATGACCTTTCAGATCCTCCCCACCCCCACTCTAGGATATCCTAGGGGTCAAAACCCAGCGGGGAGTAAGTAGGGAAATACCAGAAACAACCGGTAAGTCCTGGGGAATCTAGAACATGGAGACTTTTTCCTTGCCTTCCAAGAGGCACTAGTGTTGGAAAATTCAGGCATCT... | AAAAACATGCAAATAGATACAAAAGTTTTTAAAGTATAGATGAGGGAAAAAGTTGGCTGTAAGTCAGTGTAGAGAGGCAGCAATATGACATCAAGTTAGTTCTGGTTTGTCATGAATCGGAAAAGAGGTGAAGGGCAAAAGGTCAGACATGACCTTTCAGATCCTCCCCACCCCCACTCTAGGATATCCTAGGGGTCAAAACCCAGCGGGGAGTAAGTAGGGAAATACCAGAAACAACCGGTAAGTCCTGGGGAATCTAGAACATGGAGACTTTTTCCTTGCCTTCCAAGAGGCACTAGTGTTGGAAAATTCAGGCATCT... | pathogenic | 287,314 |
Is the genetic variant on chromosome 18, position 6966187, gene LAMA1 (laminin subunit alpha 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ataxia_-_intellectual_disability_-_oculomotor_apraxia_-_cerebellar_cysts_syndrome'] | TAAAGGCAATACATATAAAATCACTAATTTTTCTGCAGAAGGCCTGCTTTACTTCTCAAATCACATGGCATAGAGTACTCTGAATAAATAGAAGCAGATGTTACAGGTTGAACCGTGTCCTCCCAAAAGATGTGGTAGTCTTGATCCTCCTTATGTGTGAATGTGGCCTTCATTTGGAAAAGGTCTTTGCAGAGGTAATCAAGTTAGGATGAGGTCATTAGGGGAAGTCCTTATGCAACATGACAGTTGTCCTTATAAAAAGGGGAAATGTGGACACAGGACCCAGGCCAAGGAATCCCTGAGGCGACCAGAAGCTAGGA... | TAAAGGCAATACATATAAAATCACTAATTTTTCTGCAGAAGGCCTGCTTTACTTCTCAAATCACATGGCATAGAGTACTCTGAATAAATAGAAGCAGATGTTACAGGTTGAACCGTGTCCTCCCAAAAGATGTGGTAGTCTTGATCCTCCTTATGTGTGAATGTGGCCTTCATTTGGAAAAGGTCTTTGCAGAGGTAATCAAGTTAGGATGAGGTCATTAGGGGAAGTCCTTATGCAACATGACAGTTGTCCTTATAAAAAGGGGAAATGTGGACACAGGACCCAGGCCAAGGAATCCCTGAGGCGACCAGAAGCTAGGA... | pathogenic | 287,345 |
Evaluate this variant at chromosome 18, position 6977772, gene LAMA1 (laminin subunit alpha 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic | CTTCAGAAACGCCACTTTCCTTCTCACAGGCATTCCATTTGGTAGTTTGTTCATTTTTCATCTAATGCTACCATTTTAACAAAGGTTAGTCCCTATGGGAGATTTAGAGATTTCACTAAGGCCTATTTTTTTTTCGTCAAATAAGTGAAAATTCAGAAAAATCTAGAAGTGCATAAAAGATTCAGTGTCGCTTTCCAAAGGTCCATAACTTACAGCGGTGCTGCTACCGAGGTAGAAGAGAAGATTATCGGGTTCCTGTGTCTTAACATTTAGTGTTAAGGTATTGTAGTTGGTAGAGGAAATCTGAGGCTGGTAGGCCC... | CTTCAGAAACGCCACTTTCCTTCTCACAGGCATTCCATTTGGTAGTTTGTTCATTTTTCATCTAATGCTACCATTTTAACAAAGGTTAGTCCCTATGGGAGATTTAGAGATTTCACTAAGGCCTATTTTTTTTTCGTCAAATAAGTGAAAATTCAGAAAAATCTAGAAGTGCATAAAAGATTCAGTGTCGCTTTCCAAAGGTCCATAACTTACAGCGGTGCTGCTACCGAGGTAGAAGAGAAGATTATCGGGTTCCTGTGTCTTAACATTTAGTGTTAAGGTATTGTAGTTGGTAGAGGAAATCTGAGGCTGGTAGGCCC... | pathogenic | 287,357 |
Variant at chromosome 18, position 6997871, gene LAMA1 (laminin subunit alpha 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Ataxia_-_intellectual_disability_-_oculomotor_apraxia_-_cerebellar_cysts_syndrome'] | AAGAAAGACTTTATAAATACTAAAAATAAAGAAAAATAAAGTGCTTAATTTATGCCAACAGCCTTCTAATTTCTTGTATAATTTTATTTCAACCTTAAAACTTGATGAATACTTTACATAAACACAAAAAGTTATTTAAAGAAAACGGACAAGTGGTTTATTTAGAGCAAATCATTCAAAATGAGTTAAAATTTAAATCAAATATTTGTCTTATTTGATATATATAAAATAGTTATATCCCTGGGACCAAGACTGGCAGATATTATACTGATCGTGTATATAGTGATTGGAAAAAAAAGTTAAATATTCTTTTTTTTATA... | AAGAAAGACTTTATAAATACTAAAAATAAAGAAAAATAAAGTGCTTAATTTATGCCAACAGCCTTCTAATTTCTTGTATAATTTTATTTCAACCTTAAAACTTGATGAATACTTTACATAAACACAAAAAGTTATTTAAAGAAAACGGACAAGTGGTTTATTTAGAGCAAATCATTCAAAATGAGTTAAAATTTAAATCAAATATTTGTCTTATTTGATATATATAAAATAGTTATATCCCTGGGACCAAGACTGGCAGATATTATACTGATCGTGTATATAGTGATTGGAAAAAAAAGTTAAATATTCTTTTTTTTATA... | pathogenic | 287,390 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 18, position 7008535, gene LAMA1 (laminin subunit alpha 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ataxia_-_intellectual_disability_-_oculomotor_apraxia_-_cerebellar_cysts_syndrome'] | AGTTCTCATCTATTTTGACTACGGCAACCAGTACTGCAATTAAAAACAAGGCATGCAACTACAGTCATCCATCACTTAAAGATGGGGATACTGCCTGAGAAATGCATCCCTAGCTGATTTCGTCACGGTGTGAACGTCATAGAGTGCACTTATACAAACCTAGATGGCACAGCCTACTACACGCCTAGGCCATATGGTAGAGCCTATTGCTCCTGGGCCACAAACCTGTCCAGCATGTTACCGTACTGAATACTGTAGGCAGTTGCAACACAACAGGAAATATTTGTGCATCTAACTATAACTAACATAGAAAAGGTACA... | AGTTCTCATCTATTTTGACTACGGCAACCAGTACTGCAATTAAAAACAAGGCATGCAACTACAGTCATCCATCACTTAAAGATGGGGATACTGCCTGAGAAATGCATCCCTAGCTGATTTCGTCACGGTGTGAACGTCATAGAGTGCACTTATACAAACCTAGATGGCACAGCCTACTACACGCCTAGGCCATATGGTAGAGCCTATTGCTCCTGGGCCACAAACCTGTCCAGCATGTTACCGTACTGAATACTGTAGGCAGTTGCAACACAACAGGAAATATTTGTGCATCTAACTATAACTAACATAGAAAAGGTACA... | pathogenic | 287,396 |
Clinically, how would you classify the variant at chromosome 18, position 7016544, gene LAMA1 (laminin subunit alpha 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia_-_intellectual_disability_-_oculomotor_apraxia_-_cerebellar_cysts_syndrome'] | CCTGTAGTCCCAGCCACTTGGGGGCCTGAAGCGGGAGGATTGCTTGAGCCCAAGAGGTCAAGGATACAGTGAGCTTTGAGGATACAGTGAGCTTTGATGGTGTCACTGCACTCCAGCCTGGGTGACAGAGTAAGATCCTGTCTCAATTAAAAAAAAAAAAAAAGTAATTTCCTCTTGTTTCCAAAACACAAACTATACCCAAATTTAACTGAAGAAGGCTACATAGAAAACTGGAGGCCTCATGGTTTGGACATAAACCCCCAATAAAGTGATTTATTACTTTCTCTTGGAAGATAGTATACATTGCACAATATTTATTA... | CCTGTAGTCCCAGCCACTTGGGGGCCTGAAGCGGGAGGATTGCTTGAGCCCAAGAGGTCAAGGATACAGTGAGCTTTGAGGATACAGTGAGCTTTGATGGTGTCACTGCACTCCAGCCTGGGTGACAGAGTAAGATCCTGTCTCAATTAAAAAAAAAAAAAAAGTAATTTCCTCTTGTTTCCAAAACACAAACTATACCCAAATTTAACTGAAGAAGGCTACATAGAAAACTGGAGGCCTCATGGTTTGGACATAAACCCCCAATAAAGTGATTTATTACTTTCTCTTGGAAGATAGTATACATTGCACAATATTTATTA... | pathogenic | 287,423 |
The chromosome 18, position 7034581 genetic variant in gene LAMA1 (laminin subunit alpha 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic | GATTCCAAGCGCATTTTCATATATTTCACATGTAAGGTGGAGCCCACCAAAGTAAAATAGCGAGGGGCCATAAAAGGTCTCAAAATAGGGCTGGCTTGTCTAAAGCTACCCAGGTCACATGCTGGTGATTTGTAAATGTTCAGATATGATCAAGTTCCATCCTCCTTAGAAACACAGTCAATGGCATGAGTATTGCAAGTTTCTTGTTGACTAAGGCAAGAGGGCAGCACTAAGTCAGAATATTGTCCGGTGCTCCAGCCCATTCCTGGTGGAGGAATCTGATTTTTTTAAACAATGTGACTTCTAATATTTCTATTGCC... | GATTCCAAGCGCATTTTCATATATTTCACATGTAAGGTGGAGCCCACCAAAGTAAAATAGCGAGGGGCCATAAAAGGTCTCAAAATAGGGCTGGCTTGTCTAAAGCTACCCAGGTCACATGCTGGTGATTTGTAAATGTTCAGATATGATCAAGTTCCATCCTCCTTAGAAACACAGTCAATGGCATGAGTATTGCAAGTTTCTTGTTGACTAAGGCAAGAGGGCAGCACTAAGTCAGAATATTGTCCGGTGCTCCAGCCCATTCCTGGTGGAGGAATCTGATTTTTTTAAACAATGTGACTTCTAATATTTCTATTGCC... | pathogenic | 287,442 |
Does the variant impacting LAMA1 (laminin subunit alpha 1) on chromosome 18, position 7043347, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | ATGGTTGCAAAGTTTAAATGATATATTTTTTTAAATGAACTCAATTGAGGGTAAATGTCACCACCACTATCACCATCATCATCTTCATTATTATCATCGTCATCATCCCCTCACCAGGTGCACGTAAGAATCAATTCAGTTGGGTAATTTACCCTCCCCATCGCTGGGGGGCCCACCCATCCCTACTGGTCGATATCCATTTTAACTGCCAGTGGCTGAGAACTTGATGGGGTCACAAGAGTCTTTGAACAGACGCAACCTATTCAGGAGACTCTGGTATTTGCAAGTCAATTTGCCAGTTTTTGAAACGGAAAGAGAAC... | ATGGTTGCAAAGTTTAAATGATATATTTTTTTAAATGAACTCAATTGAGGGTAAATGTCACCACCACTATCACCATCATCATCTTCATTATTATCATCGTCATCATCCCCTCACCAGGTGCACGTAAGAATCAATTCAGTTGGGTAATTTACCCTCCCCATCGCTGGGGGGCCCACCCATCCCTACTGGTCGATATCCATTTTAACTGCCAGTGGCTGAGAACTTGATGGGGTCACAAGAGTCTTTGAACAGACGCAACCTATTCAGGAGACTCTGGTATTTGCAAGTCAATTTGCCAGTTTTTGAAACGGAAAGAGAAC... | pathogenic | 287,455 |
Does the chromosome 18 mutation at position 9117844 within gene NDUFV2 (NADH:ubiquinone oxidoreductase core subunit V2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic | TGTGGTGAGCCGAGATCATGCCATTGAACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCCAAAAAAAAAAAAAGACACTTATTTAGGCTTTCCATATATCATGGTAATTTGCTTTCTAAAAGGCTATATGAATTTTTAAGTGTGCTTGTTTCTCTATATGCTCAACAGAATGGAATGCTATCTTAAAAGAAAAAAGATACTTGGTAGTTTGATAACTAGTAATGTTATTTTAAGTTGTATGTTTTTAGTTACTAGTAAGCAGTTTGAATTCTGTGAAACTTTTGTTCATGATCTTTACTCATTTTTTAAGTGCATT... | TGTGGTGAGCCGAGATCATGCCATTGAACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCCAAAAAAAAAAAAAGACACTTATTTAGGCTTTCCATATATCATGGTAATTTGCTTTCTAAAAGGCTATATGAATTTTTAAGTGTGCTTGTTTCTCTATATGCTCAACAGAATGGAATGCTATCTTAAAAGAAAAAAGATACTTGGTAGTTTGATAACTAGTAATGTTATTTTAAGTTGTATGTTTTTAGTTACTAGTAAGCAGTTTGAATTCTGTGAAACTTTTGTTCATGATCTTTACTCATTTTTTAAGTGCATT... | pathogenic | 287,479 |
Evaluate the clinical significance of the mutation at chromosome 18, position 9117903 in gene NDUFV2 (NADH:ubiquinone oxidoreductase core subunit V2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_7'] | TCTCCAAAAAAAAAAAAAGACACTTATTTAGGCTTTCCATATATCATGGTAATTTGCTTTCTAAAAGGCTATATGAATTTTTAAGTGTGCTTGTTTCTCTATATGCTCAACAGAATGGAATGCTATCTTAAAAGAAAAAAGATACTTGGTAGTTTGATAACTAGTAATGTTATTTTAAGTTGTATGTTTTTAGTTACTAGTAAGCAGTTTGAATTCTGTGAAACTTTTGTTCATGATCTTTACTCATTTTTTAAGTGCATTTATGATCTCTTCAGGCTATTAGCCTCTTGTCATCAAATGTGTGTAAGATTTAAGACTCA... | TCTCCAAAAAAAAAAAAAGACACTTATTTAGGCTTTCCATATATCATGGTAATTTGCTTTCTAAAAGGCTATATGAATTTTTAAGTGTGCTTGTTTCTCTATATGCTCAACAGAATGGAATGCTATCTTAAAAGAAAAAAGATACTTGGTAGTTTGATAACTAGTAATGTTATTTTAAGTTGTATGTTTTTAGTTACTAGTAAGCAGTTTGAATTCTGTGAAACTTTTGTTCATGATCTTTACTCATTTTTTAAGTGCATTTATGATCTCTTCAGGCTATTAGCCTCTTGTCATCAAATGTGTGTAAGATTTAAGACTCA... | pathogenic | 287,482 |
The mutation impacting NDUFV2 (NADH:ubiquinone oxidoreductase core subunit V2) on chromosome 18 at position 9119519: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases'] | ACTAAGTGAAAGCTGGCATCCAAGTTGATTCAGACAAAAGTGAAAGTCAAGAAGTTAATAGTACATTAATTCTCCAAATGCATGCCAGCAGAGCGTGGCAGGAAGGTACACAAGTCAGCAGATCTGGGTTGTCCTGGTTCTCCTATTGACTCGTGTGTGTGATGTTAGGTGGGTGAATCTTGGCTTTGAATCTCCATTTGTAAAATAACTCTCCTGAAATAGAGATGGATAGGGTAGAATACCATATTTCTTAAGATCTTTTATAAGTTGATTCCATTGTTGTAAATTATGAATCCTAAAGTATTTCTTTATGAAAAATT... | ACTAAGTGAAAGCTGGCATCCAAGTTGATTCAGACAAAAGTGAAAGTCAAGAAGTTAATAGTACATTAATTCTCCAAATGCATGCCAGCAGAGCGTGGCAGGAAGGTACACAAGTCAGCAGATCTGGGTTGTCCTGGTTCTCCTATTGACTCGTGTGTGTGATGTTAGGTGGGTGAATCTTGGCTTTGAATCTCCATTTGTAAAATAACTCTCCTGAAATAGAGATGGATAGGGTAGAATACCATATTTCTTAAGATCTTTTATAAGTTGATTCCATTGTTGTAAATTATGAATCCTAAAGTATTTCTTTATGAAAAATT... | pathogenic | 287,486 |
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