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 |
|---|---|---|---|---|---|
Regarding the variant at chromosome 22 and position 50626006, affecting gene ARSA (arylsulfatase A): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Metachromatic_leukodystrophy'] | CTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGG... | CTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGG... | pathogenic | 328,996 |
Evaluate this variant at chromosome 22, position 50626150, gene ARSA (arylsulfatase A): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Metachromatic_leukodystrophy'] | TCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGT... | TCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGT... | pathogenic | 329,004 |
Considering the variant on chromosome 22, location 50626203, involving gene ARSA (arylsulfatase A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Metachromatic_leukodystrophy'] | ACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGC... | ACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGC... | pathogenic | 329,011 |
Benign or pathogenic: chromosome 22, position 50626237, gene ARSA (arylsulfatase A) variant? Disease(s) if pathogenic? | pathogenic; ['Metachromatic_leukodystrophy'] | AGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAG... | AGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAG... | pathogenic | 329,018 |
Clinical classification of chromosome 22, position 50626686, gene ARSA (arylsulfatase A): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Metachromatic_leukodystrophy'] | TGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTT... | TGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTT... | pathogenic | 329,035 |
Regarding the variant at chromosome 22 and position 50626895, affecting gene ARSA (arylsulfatase A): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Metachromatic_leukodystrophy'] | AAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAA... | AAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAA... | pathogenic | 329,049 |
Is the genetic mutation found on chromosome 22 at position 50626934, within the gene ARSA (arylsulfatase A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Metachromatic_leukodystrophy'] | TCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAG... | TCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAG... | pathogenic | 329,053 |
Is the variant located on chromosome 22 at position 50626935, gene ARSA (arylsulfatase A), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Metachromatic_leukodystrophy'] | CAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGC... | CAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGC... | pathogenic | 329,054 |
Assess the variant on chromosome 22, position 50626935, impacting ARSA (arylsulfatase A): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Metachromatic_leukodystrophy'] | CAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGC... | CAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGC... | pathogenic | 329,055 |
Regarding the variant at chromosome 22 and position 50626972, affecting gene ARSA (arylsulfatase A): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Metachromatic_leukodystrophy'] | TGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTG... | TGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTG... | pathogenic | 329,058 |
Located at chromosome 22 position 50626975, the variant affecting gene ARSA (arylsulfatase A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Metachromatic_leukodystrophy'] | ACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCT... | ACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCT... | pathogenic | 329,059 |
Does the chromosome 22 mutation at position 50627016 within gene ARSA (arylsulfatase A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Metachromatic_leukodystrophy'] | ACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCA... | ACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCA... | pathogenic | 329,062 |
A genetic variant at chromosome 22, position 50627212, affecting gene ARSA (arylsulfatase A)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Inborn_genetic_diseases', 'Metachromatic_leukodystrophy'] | CAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTC... | CAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTC... | pathogenic | 329,073 |
Chromosome 22, position 50627326, gene ARSA (arylsulfatase A): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Metachromatic_leukodystrophy', 'Metachromatic_leukodystrophy,_late_infantile_form'] | GCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGC... | GCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGC... | pathogenic | 329,081 |
Variant in ARSA (arylsulfatase A), chromosome 22, position 50627328—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Metachromatic_leukodystrophy'] | CTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCT... | CTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCT... | pathogenic | 329,082 |
Clinical classification of chromosome 22, position 50627328, gene ARSA (arylsulfatase A): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Metachromatic_leukodystrophy'] | CTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCT... | CTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCT... | pathogenic | 329,083 |
Gene ARSA (arylsulfatase A) variant at chromosome 22, position 50627328—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Metachromatic_leukodystrophy'] | CTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCT... | CTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCT... | pathogenic | 329,084 |
Is chromosome 22, position 50627335, gene ARSA (arylsulfatase A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Metachromatic_leukodystrophy'] | AGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTT... | AGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTT... | pathogenic | 329,087 |
A genetic variant on chromosome 22, position 50627386, affects the gene ARSA (arylsulfatase A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Metachromatic_leukodystrophy'] | CCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTA... | CCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTA... | pathogenic | 329,091 |
A genetic variant on chromosome 22, position 50627390, affects the gene ARSA (arylsulfatase A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Metachromatic_leukodystrophy'] | CCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAG... | CCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAG... | pathogenic | 329,094 |
Does the variant impacting ARSA (arylsulfatase A) on chromosome 22, position 50627567, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Metachromatic_leukodystrophy'] | ATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAG... | ATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAG... | pathogenic | 329,097 |
The genetic variant at chromosome 22, position 50627579, affecting gene ARSA (arylsulfatase A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Metachromatic_leukodystrophy'] | GGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCAC... | GGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCAC... | pathogenic | 329,099 |
A genetic variant at chromosome 22, position 50627584, affecting gene ARSA (arylsulfatase A)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Metachromatic_leukodystrophy'] | GGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACT... | GGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACT... | pathogenic | 329,100 |
Evaluate this variant at chromosome 22, position 50627593, gene ARSA (arylsulfatase A): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Metachromatic_leukodystrophy'] | AGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCAC... | AGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCAC... | pathogenic | 329,101 |
Variant on chromosome 22, at position 50627663, affecting ARSA (arylsulfatase A): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Metachromatic_leukodystrophy'] | GCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTA... | GCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTA... | pathogenic | 329,103 |
Variant in ARSA (arylsulfatase A), chromosome 22, position 50627745—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Metachromatic_leukodystrophy'] | GGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGC... | GGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGC... | pathogenic | 329,104 |
Clinical impact (benign or pathogenic) of the variant at chromosome 22, location 50627766, gene ARSA (arylsulfatase A): what disease(s) if pathogenic? | pathogenic; ['Metachromatic_leukodystrophy'] | CCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAG... | CCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAG... | pathogenic | 329,105 |
Is the variant located on chromosome 22 at position 50697269, gene SHANK3 (SH3 and multiple ankyrin repeat domains 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GGACAGGCACATGCACGCTGATTTCCGGTTGGAGCTGGGCTTGCCATGAGGACAGTGGGCAGTTGAGGGAGCGTGTTAGGTGGAGAGGGTATGCTCCTACCTGTGATTTAGAAAACACACTGCATTGTCAGGCATGGCTGGGAAGAGTCAGGGCTGGTGGCCTGTGGTAAGGGGGACAGGGATGGAGTTGCCACTCCAGTAGGGCCCAAAACCTACAGGTAAGCCCCAGCCCTGTCCCCAGGGTATACTCATGGTTTCCCCCAGCCCTGGCACACCTACAGGACTCTGTGGCTTCTATTCTTTACCCTCACCCTGAGGCC... | GGACAGGCACATGCACGCTGATTTCCGGTTGGAGCTGGGCTTGCCATGAGGACAGTGGGCAGTTGAGGGAGCGTGTTAGGTGGAGAGGGTATGCTCCTACCTGTGATTTAGAAAACACACTGCATTGTCAGGCATGGCTGGGAAGAGTCAGGGCTGGTGGCCTGTGGTAAGGGGGACAGGGATGGAGTTGCCACTCCAGTAGGGCCCAAAACCTACAGGTAAGCCCCAGCCCTGTCCCCAGGGTATACTCATGGTTTCCCCCAGCCCTGGCACACCTACAGGACTCTGTGGCTTCTATTCTTTACCCTCACCCTGAGGCC... | benign | 329,142 |
Assess the variant on chromosome 22, position 50720596, impacting SHANK3 (SH3 and multiple ankyrin repeat domains 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autism_spectrum_disorder', 'Intellectual_disability'] | TGCGTGTTCATACACAGTGCAGGGAATGCAGCAGGAGACCCAGGACGAACTGGGCACAATTTCTCTGTCCAGCGGTTGGGGATGGGGGGAAGGCAGACCTAAAAATCACGATGATGATGACCTCGGCCCCCTTCCCCCATTCCCAGGATACTGCTGCAGTTCAGCCCTGCACTGTAAAGGTGAAATCGCCCCACAATAGTTGCAGGCTGTCCTCTTGACATGAGGAAACTGAAGTTCCTAGAGGCTTCTGAAGTTCCTGGCAGATCTAAAATTCAAGCCTAGGTCTGTACACAAAAGCCCACCCTTGGTACCTTGGCTAC... | TGCGTGTTCATACACAGTGCAGGGAATGCAGCAGGAGACCCAGGACGAACTGGGCACAATTTCTCTGTCCAGCGGTTGGGGATGGGGGGAAGGCAGACCTAAAAATCACGATGATGATGACCTCGGCCCCCTTCCCCCATTCCCAGGATACTGCTGCAGTTCAGCCCTGCACTGTAAAGGTGAAATCGCCCCACAATAGTTGCAGGCTGTCCTCTTGACATGAGGAAACTGAAGTTCCTAGAGGCTTCTGAAGTTCCTGGCAGATCTAAAATTCAAGCCTAGGTCTGTACACAAAAGCCCACCCTTGGTACCTTGGCTAC... | pathogenic | 329,193 |
Classify the chromosome 22 variant at position 50721256 affecting gene SHANK3 (SH3 and multiple ankyrin repeat domains 3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autism_spectrum_disorder', 'Phelan-McDermid_syndrome', 'SHANK3-related_disorder'] | ATGATGTCTGAGCAAGGCATGCAGAGGGGGGTTACTGAAGCTCAAAGGGGCTCAGGGCCTGGCCTGGGGTCACGCTGCCAGTAGGGGTTAAAATGAAACATGCTGGGTGCTCAGCCTGCAGTTCCATTTTGATTGATCCGTCCGTTCTTCCCTTCACCCACTCACCCATGCGGGTCTCTGGGAGGAGCCTCTCAAGGCTTCCTCCACAGGGCACCTCCTTACCTGGGTGGGCATTAGGTCTTTCTCTGCTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTC... | ATGATGTCTGAGCAAGGCATGCAGAGGGGGGTTACTGAAGCTCAAAGGGGCTCAGGGCCTGGCCTGGGGTCACGCTGCCAGTAGGGGTTAAAATGAAACATGCTGGGTGCTCAGCCTGCAGTTCCATTTTGATTGATCCGTCCGTTCTTCCCTTCACCCACTCACCCATGCGGGTCTCTGGGAGGAGCCTCTCAAGGCTTCCTCCACAGGGCACCTCCTTACCTGGGTGGGCATTAGGTCTTTCTCTGCTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTC... | pathogenic | 329,203 |
A genetic alteration at chromosome 22, position 50721469, in gene SHANK3 (SH3 and multiple ankyrin repeat domains 3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Moderate_global_developmental_delay', 'Mutism', 'Phelan-McDermid_syndrome', 'Psychotic_disorder', 'Schizophrenia_15'] | CCTCCTTACCTGGGTGGGCATTAGGTCTTTCTCTGCTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGG... | CCTCCTTACCTGGGTGGGCATTAGGTCTTTCTCTGCTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGG... | pathogenic | 329,208 |
Benign or pathogenic: chromosome 22, position 50721472, gene SHANK3 (SH3 and multiple ankyrin repeat domains 3) variant? Disease(s) if pathogenic? | pathogenic; ['Phelan-McDermid_syndrome', 'Schizophrenia_15'] | CCTTACCTGGGTGGGCATTAGGTCTTTCTCTGCTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCG... | CCTTACCTGGGTGGGCATTAGGTCTTTCTCTGCTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCG... | pathogenic | 329,209 |
Does the variant on chromosome 22 at location 50721504 affecting gene SHANK3 (SH3 and multiple ankyrin repeat domains 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autism_spectrum_disorder', 'Inborn_genetic_diseases', 'Neurodevelopmental_disorder', 'Phelan-McDermid_syndrome', 'SHANK3-related_disorder', 'Schizophrenia_15'] | CTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCG... | CTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCG... | pathogenic | 329,212 |
A genetic alteration at chromosome 22, position 50721504, in gene SHANK3 (SH3 and multiple ankyrin repeat domains 3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Intellectual_disability', 'Neurodevelopmental_delay', 'Phelan-McDermid_syndrome', 'Schizophrenia_15'] | CTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCG... | CTGGAGGCCTGGCTCCAGTGGCCACAGCCCTGCTGCCCCTCACCCTGCCAGTGTGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCG... | pathogenic | 329,213 |
Regarding the variant found on chromosome 22 at position 50721557 in gene SHANK3 (SH3 and multiple ankyrin repeat domains 3): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Phelan-McDermid_syndrome', 'Schizophrenia_15'] | TGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTT... | TGTCACTCCTGCTCATTTCCGACTATCTTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTT... | pathogenic | 329,215 |
The mutation impacting SHANK3 (SH3 and multiple ankyrin repeat domains 3) on chromosome 22 at position 50721584: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases'] | TTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTG... | TTCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTG... | pathogenic | 329,216 |
Does the variant on chromosome 22 at location 50721585 affecting gene SHANK3 (SH3 and multiple ankyrin repeat domains 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability', 'Phelan-McDermid_syndrome', 'SHANK3-related_disorder'] | TCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGG... | TCCTCTCACCTCTGGTTGCCTCCAGGGCTGGTACTTCTGCGTCGGCCTTGTTGATTCTGGGGTGGGGAGCCCTGTACTGGCCCCTCCAAGCCCCTCAGCAGTTCTGTCCCCATGTCTTGCGGGGCTGTCCCTGCCTTTCTGGGATATCTTCTCAGGGCCTGCTTGATGACCCTGGGTTTGGGCAGGTCTTGGCCCCAACCCAGGCCGTCAGAGTTTGTGTCCTTTCTCAGGGGTCCCCGGTGGGGCCCTCCTCCATCCTGTAACTGAACGCACACCTCTCTCCTGTCCTCTTCACAAGAGCCCTCCCCGTGCAGCCCTGG... | pathogenic | 329,217 |
Is the genetic change at chromosome 22, position 50721897, within gene SHANK3 (SH3 and multiple ankyrin repeat domains 3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Intellectual_disability', 'Phelan-McDermid_syndrome'] | AGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGG... | AGCCCTGGGCCTGGGGCACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGG... | pathogenic | 329,228 |
Classify the chromosome 22 variant at position 50721914 affecting gene SHANK3 (SH3 and multiple ankyrin repeat domains 3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Phelan-McDermid_syndrome'] | ACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGG... | ACAGAGCTTGGGCATCCAGGGACCAGCCCAGACCAGGGTCTTGCTCGGAGCCCGGGCTCTGGGCTCCCTGTTTCTCCCCTGCCCTCCATTCCCCGCCCACCACGGGTCCCAACCCCATCTTCCCGAGCATTCTAGCTCCTCGCGCCGGGTTCTGCCGCGGGCGTCCATTGTGTCCGGACGGTGGCTTCCCCGGGGTGGAGTCGGGTCAAGGCTGGCCTCTGTGGGAGGGGGTTGCCGGGGTCCCCAGGAACCTCTCCGAAGGCAGCACCACCCCCCGCCCAGCGCCCTGGCTGGTCTCACCGGCCCTTCCGTCCGCAGGG... | pathogenic | 329,229 |
Chromosome 22, position 50730755, gene SHANK3 (SH3 and multiple ankyrin repeat domains 3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Inborn_genetic_diseases'] | GGTCCTGCCCCTCTCTGGGTGTCCACAGTCAGGTCCCTCTGAGTGATTCTCTCGGAGTCTCCTCTGGCAAGCCCCTCCAGCAGTCACCACCACCTGGGCACCCACCCCCAGGGGACCCCCCGACCCAACACCACCTGGCACCTCCCCTTGGGAATCCCCCCAACCTTGGCTGCCTCCCCACTTTGGCCCACTGTGCAGGTGGATCCATGGAGGCCAGGTCCAATGGGAGCAAAGACAGCTTATTCTGGTGGTTGGTGCCTGTGCTGAGGCCCACCTCAGGTGTTCTTGAAGCCCCTTTCTGTTTGGGGGCACAGTGTGGC... | GGTCCTGCCCCTCTCTGGGTGTCCACAGTCAGGTCCCTCTGAGTGATTCTCTCGGAGTCTCCTCTGGCAAGCCCCTCCAGCAGTCACCACCACCTGGGCACCCACCCCCAGGGGACCCCCCGACCCAACACCACCTGGCACCTCCCCTTGGGAATCCCCCCAACCTTGGCTGCCTCCCCACTTTGGCCCACTGTGCAGGTGGATCCATGGAGGCCAGGTCCAATGGGAGCAAAGACAGCTTATTCTGGTGGTTGGTGCCTGTGCTGAGGCCCACCTCAGGTGTTCTTGAAGCCCCTTTCTGTTTGGGGGCACAGTGTGGC... | pathogenic | 329,239 |
Is the chromosome X, position 634689 variant in SHOX clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Leri-Weill_dyschondrosteosis'] | GCCCTGACTTTGTCGAAGCAGAAAGCTGTGGCTACGGTTTACAAAGCAGTCCCCGGTTTCTGACCGTCTAAGAGGCAGGAGCCCAGCCTGCCTTTGACAGTGAGAGGAGTTCCTCCCTACACACTGCTGCGGGCACCCGGCACTGTAATTCATACACAGAGAGTTGGCCTTCCTGGACGCAAGGCTGGGAGCCGCTTGAGGGCCTGCGTGTAATTTAAGAGGGTTCGCAGCGCCCGGCGGCCGCTTCTGTGGGGTTGCTTTTTGGTTGTCCTTCGCAGACACCGTTTTGCTCCTCTGAACTCTCTCTTCTCCCCCTGGCC... | GCCCTGACTTTGTCGAAGCAGAAAGCTGTGGCTACGGTTTACAAAGCAGTCCCCGGTTTCTGACCGTCTAAGAGGCAGGAGCCCAGCCTGCCTTTGACAGTGAGAGGAGTTCCTCCCTACACACTGCTGCGGGCACCCGGCACTGTAATTCATACACAGAGAGTTGGCCTTCCTGGACGCAAGGCTGGGAGCCGCTTGAGGGCCTGCGTGTAATTTAAGAGGGTTCGCAGCGCCCGGCGGCCGCTTCTGTGGGGTTGCTTTTTGGTTGTCCTTCGCAGACACCGTTTTGCTCCTCTGAACTCTCTCTTCTCCCCCTGGCC... | pathogenic | 329,256 |
Mutation found at chromosome X position 644479, gene SHOX (SHOX homeobox): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Langer_mesomelic_dysplasia_syndrome', 'Leri-Weill_dyschondrosteosis'] | GGAGCGCGGAAGGTATAAACGTATAAATCATAAGTAAACAACTCAGAAATGGACCCCGAGCGCTGGTCGCCGCTAGCTCTCCAGCTCTCCCTGGCCCAGGCCCGAAGGAGAGGGGTCCGCATCCCTCCGCGGTTCTCCTCTCCTGGGTACCTGGCCTTGAGGTGGGGGAACGAGCCTACTTCTTGTACCGTCTTTTGCCGACGGCGGGACCCAGTGAAATTAGGCCGTTGGAGCCCGCAGGCCTGCCTGGCTTTGCGCACCGGAGTCTTGGGGACCTGGTGTCCCCGGGAAAAACTTGGGGACCTGGTATCCCCGGGAGA... | GGAGCGCGGAAGGTATAAACGTATAAATCATAAGTAAACAACTCAGAAATGGACCCCGAGCGCTGGTCGCCGCTAGCTCTCCAGCTCTCCCTGGCCCAGGCCCGAAGGAGAGGGGTCCGCATCCCTCCGCGGTTCTCCTCTCCTGGGTACCTGGCCTTGAGGTGGGGGAACGAGCCTACTTCTTGTACCGTCTTTTGCCGACGGCGGGACCCAGTGAAATTAGGCCGTTGGAGCCCGCAGGCCTGCCTGGCTTTGCGCACCGGAGTCTTGGGGACCTGGTGTCCCCGGGAAAAACTTGGGGACCTGGTATCCCCGGGAGA... | pathogenic | 329,268 |
For chromosome X, position 1288903, gene CSF2RA (colony stimulating factor 2 receptor subunit alpha): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GTTGTCAGTGTGTCACCGTCCTGGTTCCCCAAGGGATTAAGGTCAGGGTTTTTGGAACACAGGAGACAGAGACAGAAGAGCGGGGAGAGGGGAGGGAAGGAGGGAGAAACACAGAGAAAGGATAGAAGGAGGAGGGAGAGGAAGAGAGAAATATGGATGATCGATAGATAGGTGATAGATGATTTATTGACTGATAGGTGATAATAGATGATTGGAAGATTGATAATCAATTCTATAGGTAGATGCTACACGGAGGGATGGGTGGTCTTGCTATGTTACCCCAGATGACATACTTTTTTTTTTTTTTTTTTTTTTTGAGA... | GTTGTCAGTGTGTCACCGTCCTGGTTCCCCAAGGGATTAAGGTCAGGGTTTTTGGAACACAGGAGACAGAGACAGAAGAGCGGGGAGAGGGGAGGGAAGGAGGGAGAAACACAGAGAAAGGATAGAAGGAGGAGGGAGAGGAAGAGAGAAATATGGATGATCGATAGATAGGTGATAGATGATTTATTGACTGATAGGTGATAATAGATGATTGGAAGATTGATAATCAATTCTATAGGTAGATGCTACACGGAGGGATGGGTGGTCTTGCTATGTTACCCCAGATGACATACTTTTTTTTTTTTTTTTTTTTTTTGAGA... | benign | 329,309 |
Assess the variant on chromosome X, position 1294453, impacting CSF2RA (colony stimulating factor 2 receptor subunit alpha): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CCGGCGCTCAGCATACGGAGGACCTGCACCGGTCTCTGAGTTCTCTCAGTATTTATTGCTTACTATTTTCACTATCTTGGCAAGGGGAATGTGGCAGGAGGACAGGGTGATAGTGGGGAGAAGGTCAGCAGGAAGACATATGAGCAAAGGAATCTGTGTCACAAATAAGTTCAAGGGAAGCTACTATGCCTGGATGCACACGCAGGCCAGATTTATGCTTCTCTCCACACAAACATCAGTGTAGCAAAGAGTCACAGAGCAGTATTGCCACCAGCATATCTCGCCTCCAGCCACAGGGCGGTTTTCTCCTGTCTCAGAAT... | CCGGCGCTCAGCATACGGAGGACCTGCACCGGTCTCTGAGTTCTCTCAGTATTTATTGCTTACTATTTTCACTATCTTGGCAAGGGGAATGTGGCAGGAGGACAGGGTGATAGTGGGGAGAAGGTCAGCAGGAAGACATATGAGCAAAGGAATCTGTGTCACAAATAAGTTCAAGGGAAGCTACTATGCCTGGATGCACACGCAGGCCAGATTTATGCTTCTCTCCACACAAACATCAGTGTAGCAAAGAGTCACAGAGCAGTATTGCCACCAGCATATCTCGCCTCCAGCCACAGGGCGGTTTTCTCCTGTCTCAGAAT... | benign | 329,328 |
Variant at chromosome position 2938380, chromosome X, gene ARSL (arylsulfatase L): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AAAAAAAGAGACTAGAAAAGTCTTGAACACATGTGTGTGCAAGCATGTGTGCGTGCGTGTGTGTATGCATGCACATACGTGTGTGTGATGATGATAAAAGTTGCACTTCATATAGTGCAGGGAAGAAAGAATGAAATATAGCCCATACATGGTGCTGAAACTATAGGTAACGACTCCCCATCGTTTTAAGACGATTGGCAGGTGATCTCAGAAGGCATGTCGCTGGAATGAGAGGGACACATATTGACAAAAACTAAATTTAAAAAGCTCGTGGAGAAAAACGGAAGTGCGGAGACATGGAGATGGACTCTGGAATGCAG... | AAAAAAAGAGACTAGAAAAGTCTTGAACACATGTGTGTGCAAGCATGTGTGCGTGCGTGTGTGTATGCATGCACATACGTGTGTGTGATGATGATAAAAGTTGCACTTCATATAGTGCAGGGAAGAAAGAATGAAATATAGCCCATACATGGTGCTGAAACTATAGGTAACGACTCCCCATCGTTTTAAGACGATTGGCAGGTGATCTCAGAAGGCATGTCGCTGGAATGAGAGGGACACATATTGACAAAAACTAAATTTAAAAAGCTCGTGGAGAAAAACGGAAGTGCGGAGACATGGAGATGGACTCTGGAATGCAG... | benign | 329,421 |
Evaluate if the mutation on chromosome X at position 2960404 in ARSL (arylsulfatase L) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CGGAAATGTCGCTGGAAGCTGATGGTGCCAAACTTAGCAGTACAGCGAGCATCGCTGGCAGCCAGCTCCTGAAACACAAACTGTCAGAGACTGCGTCATGCTCCTGTCCATCTCATTTGCAGAACTTGTGTATGGGGGAAGTTGGCATCACTATTTTAAGAGGTATTGATATTATCATCACATTTCAGAATAGCTTTGAGGACATCTCTTAGGCATTTGATTGTTTTTCTCTGGTTACAATTAACTGATACCGTTGATGGCTTTATTTGGCCTTGAAGTTTTTTGGGTTTTTTTTGATGCTGTAAAGTCTGTTGTTAAGT... | CGGAAATGTCGCTGGAAGCTGATGGTGCCAAACTTAGCAGTACAGCGAGCATCGCTGGCAGCCAGCTCCTGAAACACAAACTGTCAGAGACTGCGTCATGCTCCTGTCCATCTCATTTGCAGAACTTGTGTATGGGGGAAGTTGGCATCACTATTTTAAGAGGTATTGATATTATCATCACATTTCAGAATAGCTTTGAGGACATCTCTTAGGCATTTGATTGTTTTTCTCTGGTTACAATTAACTGATACCGTTGATGGCTTTATTTGGCCTTGAAGTTTTTTGGGTTTTTTTTGATGCTGTAAAGTCTGTTGTTAAGT... | benign | 329,459 |
Regarding the variant found on chromosome X at position 8553929 in gene ANOS1 (anosmin 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACCCCAGACTGGGCGACAGATCAAGACTGTGTCTCAACAAACAAACACCAAATGACTTGTATATACTATATTAAAAGCACTCATGCAGGACAGAGTAGCTAAAGAGTTGAAAGAGTCCTTCAAAAAAGAGAAATCCAATTGTCAGTAAAATTACAAAAAGGTGCTCAACTTCTTGGACATCAGAAAAATGCGAATTCAAATAACAATGAGGTATCACTATGAACATACCAGAAAGGGTAAACTTACAAAGATGGAAAATACCA... | GAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACCCCAGACTGGGCGACAGATCAAGACTGTGTCTCAACAAACAAACACCAAATGACTTGTATATACTATATTAAAAGCACTCATGCAGGACAGAGTAGCTAAAGAGTTGAAAGAGTCCTTCAAAAAAGAGAAATCCAATTGTCAGTAAAATTACAAAAAGGTGCTCAACTTCTTGGACATCAGAAAAATGCGAATTCAAATAACAATGAGGTATCACTATGAACATACCAGAAAGGGTAAACTTACAAAGATGGAAAATACCA... | benign | 329,571 |
Variant on chromosome X, at position 9743600, affecting GPR143 (G protein-coupled receptor 143): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Nystagmus_6,_congenital,_X-linked'] | AAGTACCAACTCCCGGTATAGACATGGCCACTTCTGCAGTAAGAAACTAAGAGGGCCAGGTGCAATGGCTCCCTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTCTGAGACCAGCCTGGGCAACACAGTGAAATTTGTCTCTACTAAAAATAAAAAATAAAAAAATTAACCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTAATTGGGAGGCTGGGGTGGGAGGATCGCTTGAGCCCAGGAAATCGAGCCTGCAGTGAGCTATGAATGTGCCACTGCACTCCAGCCTGGGG... | AAGTACCAACTCCCGGTATAGACATGGCCACTTCTGCAGTAAGAAACTAAGAGGGCCAGGTGCAATGGCTCCCTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTCTGAGACCAGCCTGGGCAACACAGTGAAATTTGTCTCTACTAAAAATAAAAAATAAAAAAATTAACCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTAATTGGGAGGCTGGGGTGGGAGGATCGCTTGAGCCCAGGAAATCGAGCCTGCAGTGAGCTATGAATGTGCCACTGCACTCCAGCCTGGGG... | pathogenic | 329,618 |
Variant chromosome X, position 9748660, gene GPR143 (G protein-coupled receptor 143): benign or pathogenic? Disease(s)? | pathogenic | CCAGCTGCATATTTCAGAGGAAATGTGTTCTCATGGTTATGGATAACAATAGTTTCAGAGGTTCTTGTCAGAGAAAAGGACAAAGATTTCTACTGAGGGGTCATAGGAGTCACTGGTCACCACAGAATGTGCTGGAGGGCCTCACAAACATATGTTACCAAGGTAACAACTCTCAGCTGCGAAATGCTTAATGTAGGAGAGAAGCAAAATGGCACAGAGGAAGAGGAAACTGAAGGCAAAGGGGAGGGAGGTCTGCTCCAGCTCAACCAAAGAGGGAGGTGGAAAAGGGGCTAACCAAACAGCCTCATGGCCACGGAAGG... | CCAGCTGCATATTTCAGAGGAAATGTGTTCTCATGGTTATGGATAACAATAGTTTCAGAGGTTCTTGTCAGAGAAAAGGACAAAGATTTCTACTGAGGGGTCATAGGAGTCACTGGTCACCACAGAATGTGCTGGAGGGCCTCACAAACATATGTTACCAAGGTAACAACTCTCAGCTGCGAAATGCTTAATGTAGGAGAGAAGCAAAATGGCACAGAGGAAGAGGAAACTGAAGGCAAAGGGGAGGGAGGTCTGCTCCAGCTCAACCAAAGAGGGAGGTGGAAAAGGGGCTAACCAAACAGCCTCATGGCCACGGAAGG... | pathogenic | 329,623 |
Classify the chromosome X variant at position 9765568 affecting gene GPR143 (G protein-coupled receptor 143) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Nystagmus_6,_congenital,_X-linked'] | ATTATTATGTTTTAGGGCTCTCTCTGAGATCTGAATGGGCAGGATGATGGAGCCTGAGATTGGCTTCACATTAATCCAGTGAGGAGGGTGAAGAGGGGAGCAGATGAGCCGGGTACCCGTACCTCACGAATCCCACGTACAGGGATTCACTGTAAGTGTTTCTATTATAGACTGCATTTACGCATGGTGGAAATGTTCCAAAAAGCTAAACAGAATGGCCAAATCTAGCTGAGAGGTCTGTATAAAGTGTCACATAATAGTTTAAAGCAGATGTTGGCAAACTCATTCTTAATATTTTTGGCTTTGGGAGCCATACTTTC... | ATTATTATGTTTTAGGGCTCTCTCTGAGATCTGAATGGGCAGGATGATGGAGCCTGAGATTGGCTTCACATTAATCCAGTGAGGAGGGTGAAGAGGGGAGCAGATGAGCCGGGTACCCGTACCTCACGAATCCCACGTACAGGGATTCACTGTAAGTGTTTCTATTATAGACTGCATTTACGCATGGTGGAAATGTTCCAAAAAGCTAAACAGAATGGCCAAATCTAGCTGAGAGGTCTGTATAAAGTGTCACATAATAGTTTAAAGCAGATGTTGGCAAACTCATTCTTAATATTTTTGGCTTTGGGAGCCATACTTTC... | pathogenic | 329,634 |
Clinical classification of chromosome X, position 9765781, gene GPR143 (G protein-coupled receptor 143): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Nystagmus', 'Ocular_albinism', 'Ocular_albinism,_type_I', 'Reduced_eye_contact'] | AATGGCCAAATCTAGCTGAGAGGTCTGTATAAAGTGTCACATAATAGTTTAAAGCAGATGTTGGCAAACTCATTCTTAATATTTTTGGCTTTGGGAGCCATACTTTCTCAGTCCAATATTCACCCTGCCCTTGTAGGGTAAAGGCAGCCATGAATAATTCACAAATGCACATGAACAACATAGCTGCGTTCCCATCAAACTTTATTTGTAGACATTAACATTTAAATTTCAGTAATAGTCACATGCCAGGAAATATTTTTTAATTTTGATTTTTAAAAACATTTTAGGGCTGGGTGAGGTGGCTCACGCCTGTAATCCTA... | AATGGCCAAATCTAGCTGAGAGGTCTGTATAAAGTGTCACATAATAGTTTAAAGCAGATGTTGGCAAACTCATTCTTAATATTTTTGGCTTTGGGAGCCATACTTTCTCAGTCCAATATTCACCCTGCCCTTGTAGGGTAAAGGCAGCCATGAATAATTCACAAATGCACATGAACAACATAGCTGCGTTCCCATCAAACTTTATTTGTAGACATTAACATTTAAATTTCAGTAATAGTCACATGCCAGGAAATATTTTTTAATTTTGATTTTTAAAAACATTTTAGGGCTGGGTGAGGTGGCTCACGCCTGTAATCCTA... | pathogenic | 329,639 |
Regarding the variant found on chromosome X at position 10198076 in gene CLCN4 (chloride voltage-gated channel 4): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTAACCTTTTGAGCAGCTGTCAGACTGTTTTCCAAAGTAGCTGTACCATTTTACATTCCCACCAGCAGTGTATGAGACTTCCAATTTGTCCACCTTCCTGTCAGCACTTGTTATTATCTGTTTTTGATTATAGCCATCCTAGTGGTTATGAAGTGGCATCTCATTGTGCTTTCAGTCATCTTCCATTGCATTTTATGACCACATTATAGAGGATGTTCTGGGCCTTCTATAAAGAGAATGCCCTAGGCACAGGAGATAATAGTGGTGAACCACAGACCTATAGCATTTAGAGCTTCAGATCTTTATTAAAATCTTAGTTC... | TTAACCTTTTGAGCAGCTGTCAGACTGTTTTCCAAAGTAGCTGTACCATTTTACATTCCCACCAGCAGTGTATGAGACTTCCAATTTGTCCACCTTCCTGTCAGCACTTGTTATTATCTGTTTTTGATTATAGCCATCCTAGTGGTTATGAAGTGGCATCTCATTGTGCTTTCAGTCATCTTCCATTGCATTTTATGACCACATTATAGAGGATGTTCTGGGCCTTCTATAAAGAGAATGCCCTAGGCACAGGAGATAATAGTGGTGAACCACAGACCTATAGCATTTAGAGCTTCAGATCTTTATTAAAATCTTAGTTC... | benign | 329,666 |
Is the variant located on chromosome X at position 10212457, gene CLCN4 (chloride voltage-gated channel 4), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AGCAGAACATTATCCACCTCCCAGAGCCCCCTTTTGTGTTCCATTACTATTGCTTTCTGTGTGGCATTTCTATGAATTGTCTTTTAATTTTATTTATTTTTATTAAAAATATAAAATAGAGACCAAGCTCCCTATGTTTCCCAGGCTGGTCTTAAACCCCTGAGCTCCAGTGATCCTCCTGCTTTGGCCTCCCAAAGTGCTAGGATTACACACATGCGCCATTGTGCCCTGCCTGAATTGTCTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCACAATCATGGGT... | AGCAGAACATTATCCACCTCCCAGAGCCCCCTTTTGTGTTCCATTACTATTGCTTTCTGTGTGGCATTTCTATGAATTGTCTTTTAATTTTATTTATTTTTATTAAAAATATAAAATAGAGACCAAGCTCCCTATGTTTCCCAGGCTGGTCTTAAACCCCTGAGCTCCAGTGATCCTCCTGCTTTGGCCTCCCAAAGTGCTAGGATTACACACATGCGCCATTGTGCCCTGCCTGAATTGTCTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCACAATCATGGGT... | benign | 329,688 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 10449573, gene MID1: what disease(s) if pathogenic? | pathogenic; ['X-linked_Opitz_G/BBB_syndrome'] | TATTGTAATAAAAAGAAAAACCTATAAGGTTTCCAGAGAAAGATTGTTTTTTTTCCATTGAGGCGTCCATCTTTTAGATGTGAAATTGTCTTAGGTATCTATCAAAATATTCATCTGGGTATAAATAATATAGTAAATATATAGAATCTATCTGTTAAGAAAAAGGAGAGTGTCTGCTAGGGAAGAGGATGGAAGGACCCAGGAAGCTGGCTTGGCCTCCCTTGAAATCCAGATTTGCAATCACATGACCTTTGGCCACGTGATGCTGAAACAATGAGTTCATTGACTTATTTCAGGGAGGCAGTTGGTTGATTTGGTTA... | TATTGTAATAAAAAGAAAAACCTATAAGGTTTCCAGAGAAAGATTGTTTTTTTTCCATTGAGGCGTCCATCTTTTAGATGTGAAATTGTCTTAGGTATCTATCAAAATATTCATCTGGGTATAAATAATATAGTAAATATATAGAATCTATCTGTTAAGAAAAAGGAGAGTGTCTGCTAGGGAAGAGGATGGAAGGACCCAGGAAGCTGGCTTGGCCTCCCTTGAAATCCAGATTTGCAATCACATGACCTTTGGCCACGTGATGCTGAAACAATGAGTTCATTGACTTATTTCAGGGAGGCAGTTGGTTGATTTGGTTA... | pathogenic | 329,726 |
A genetic alteration at chromosome X, position 10459645, in gene MID1 (midline 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic | CCACTCACCACATCATAGTGCAAGAGAGCTTTATTTCATGGAAATTTTCATCCTGCCTGTTTGATTTAAACTCTTCAATCTCTCCACCAATCATTGGTATACAAAGAAACTCCCTGGTGTGGCCCAGGAGGCTTTCGCGATCTGTTCTTGTCTCCAGCCTCCTGGCTCACCTATCCTCCCAACCTAAGACACACTTTAACCACATGGATCAATTTTCTGTTCCATAAATATATTCTCCTTGTCTCTGGGCTTTTGCCCATGCTGTTCCTTCTGCATGGAACACTGTGTCCTCACATCCCCTGCTCCTAACCTACCTTGGA... | CCACTCACCACATCATAGTGCAAGAGAGCTTTATTTCATGGAAATTTTCATCCTGCCTGTTTGATTTAAACTCTTCAATCTCTCCACCAATCATTGGTATACAAAGAAACTCCCTGGTGTGGCCCAGGAGGCTTTCGCGATCTGTTCTTGTCTCCAGCCTCCTGGCTCACCTATCCTCCCAACCTAAGACACACTTTAACCACATGGATCAATTTTCTGTTCCATAAATATATTCTCCTTGTCTCTGGGCTTTTGCCCATGCTGTTCCTTCTGCATGGAACACTGTGTCCTCACATCCCCTGCTCCTAACCTACCTTGGA... | pathogenic | 329,734 |
Variant at chromosome X, position 10523193, gene MID1 (midline 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GTGTCATACACTTTTAAACAACCAGATCTTGTGAGAACTCACTCATTATCATGGAATCAGCACCAAGCCATGAGGGATCTGCCCCCATGACCCAAACACCTCCCACCAAGCCCCACCTCCAGCATTGGGGATTACAATTCGACATGAGATTGGGGCGGGGACATCTCTCCTTTCTCTGAATCACATACACGGTATCATAAAATGTTACGTGATTCAGAGAAAGGAGCGATGACTCTGGTCCAGGGAACCAGAGAAACGTTCACAACTGAAGTGCCCCTTGACTTAGGACTTGGAGGATACACAAGAAGCATTCTGACAAA... | GTGTCATACACTTTTAAACAACCAGATCTTGTGAGAACTCACTCATTATCATGGAATCAGCACCAAGCCATGAGGGATCTGCCCCCATGACCCAAACACCTCCCACCAAGCCCCACCTCCAGCATTGGGGATTACAATTCGACATGAGATTGGGGCGGGGACATCTCTCCTTTCTCTGAATCACATACACGGTATCATAAAATGTTACGTGATTCAGAGAAAGGAGCGATGACTCTGGTCCAGGGAACCAGAGAAACGTTCACAACTGAAGTGCCCCTTGACTTAGGACTTGGAGGATACACAAGAAGCATTCTGACAAA... | benign | 329,755 |
Variant at chromosome position 10523193, chromosome X, gene MID1 (midline 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GTGTCATACACTTTTAAACAACCAGATCTTGTGAGAACTCACTCATTATCATGGAATCAGCACCAAGCCATGAGGGATCTGCCCCCATGACCCAAACACCTCCCACCAAGCCCCACCTCCAGCATTGGGGATTACAATTCGACATGAGATTGGGGCGGGGACATCTCTCCTTTCTCTGAATCACATACACGGTATCATAAAATGTTACGTGATTCAGAGAAAGGAGCGATGACTCTGGTCCAGGGAACCAGAGAAACGTTCACAACTGAAGTGCCCCTTGACTTAGGACTTGGAGGATACACAAGAAGCATTCTGACAAA... | GTGTCATACACTTTTAAACAACCAGATCTTGTGAGAACTCACTCATTATCATGGAATCAGCACCAAGCCATGAGGGATCTGCCCCCATGACCCAAACACCTCCCACCAAGCCCCACCTCCAGCATTGGGGATTACAATTCGACATGAGATTGGGGCGGGGACATCTCTCCTTTCTCTGAATCACATACACGGTATCATAAAATGTTACGTGATTCAGAGAAAGGAGCGATGACTCTGGTCCAGGGAACCAGAGAAACGTTCACAACTGAAGTGCCCCTTGACTTAGGACTTGGAGGATACACAAGAAGCATTCTGACAAA... | benign | 329,756 |
A genetic variant on chromosome X, position 10523193, affects the gene MID1 (midline 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GTGTCATACACTTTTAAACAACCAGATCTTGTGAGAACTCACTCATTATCATGGAATCAGCACCAAGCCATGAGGGATCTGCCCCCATGACCCAAACACCTCCCACCAAGCCCCACCTCCAGCATTGGGGATTACAATTCGACATGAGATTGGGGCGGGGACATCTCTCCTTTCTCTGAATCACATACACGGTATCATAAAATGTTACGTGATTCAGAGAAAGGAGCGATGACTCTGGTCCAGGGAACCAGAGAAACGTTCACAACTGAAGTGCCCCTTGACTTAGGACTTGGAGGATACACAAGAAGCATTCTGACAAA... | GTGTCATACACTTTTAAACAACCAGATCTTGTGAGAACTCACTCATTATCATGGAATCAGCACCAAGCCATGAGGGATCTGCCCCCATGACCCAAACACCTCCCACCAAGCCCCACCTCCAGCATTGGGGATTACAATTCGACATGAGATTGGGGCGGGGACATCTCTCCTTTCTCTGAATCACATACACGGTATCATAAAATGTTACGTGATTCAGAGAAAGGAGCGATGACTCTGGTCCAGGGAACCAGAGAAACGTTCACAACTGAAGTGCCCCTTGACTTAGGACTTGGAGGATACACAAGAAGCATTCTGACAAA... | benign | 329,757 |
Regarding the variant found on chromosome X at position 11765526 in gene MSL3 (MSL complex subunit 3): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Basilicata-Akhtar_syndrome'] | GATAGGGGTGTGTCCACCTGTCCACTTTTGCAGCACAGGCTGCTGGACACCTCGTGTGGCCTCAAACATATTTATTTGTGTTTAATGGGGTAAGTTAAAGTGACTGCTGTATTTTCTGCACTTTATGTTTTCCTATGTAATCTTGACAGTAGCTACAAATCCATTTCATTTTGTGTGTATGTAGGTGTAGTATATAATGATTAGATTTAAAACTGCCCTATTAAAAATCGGCAACTTCATTGTGAACATTTGGAAAGTACCTCTTACTTGTGTCTCTAATCTCTTCTTTTTAATCCTCCCAGTGTTGACCTTTGTAAGGA... | GATAGGGGTGTGTCCACCTGTCCACTTTTGCAGCACAGGCTGCTGGACACCTCGTGTGGCCTCAAACATATTTATTTGTGTTTAATGGGGTAAGTTAAAGTGACTGCTGTATTTTCTGCACTTTATGTTTTCCTATGTAATCTTGACAGTAGCTACAAATCCATTTCATTTTGTGTGTATGTAGGTGTAGTATATAATGATTAGATTTAAAACTGCCCTATTAAAAATCGGCAACTTCATTGTGAACATTTGGAAAGTACCTCTTACTTGTGTCTCTAATCTCTTCTTTTTAATCCTCCCAGTGTTGACCTTTGTAAGGA... | pathogenic | 329,786 |
Variant in MSL3 (MSL complex subunit 3), chromosome X, position 11765677—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Basilicata-Akhtar_syndrome', 'Inborn_genetic_diseases'] | GCTACAAATCCATTTCATTTTGTGTGTATGTAGGTGTAGTATATAATGATTAGATTTAAAACTGCCCTATTAAAAATCGGCAACTTCATTGTGAACATTTGGAAAGTACCTCTTACTTGTGTCTCTAATCTCTTCTTTTTAATCCTCCCAGTGTTGACCTTTGTAAGGAGATGGTGGATGGATTAAGAATAACCTTTGATTACACTCTCCCGTTGGTTTTACTCTATCCATATGAACAAGCTCAGTATAAAAAGGTGACTTCGTCTAAATTTTTTCTTCCAATTAAGGAAAGTGCCACAAGCACTAACAGGTAAGTTATA... | GCTACAAATCCATTTCATTTTGTGTGTATGTAGGTGTAGTATATAATGATTAGATTTAAAACTGCCCTATTAAAAATCGGCAACTTCATTGTGAACATTTGGAAAGTACCTCTTACTTGTGTCTCTAATCTCTTCTTTTTAATCCTCCCAGTGTTGACCTTTGTAAGGAGATGGTGGATGGATTAAGAATAACCTTTGATTACACTCTCCCGTTGGTTTTACTCTATCCATATGAACAAGCTCAGTATAAAAAGGTGACTTCGTCTAAATTTTTTCTTCCAATTAAGGAAAGTGCCACAAGCACTAACAGGTAAGTTATA... | pathogenic | 329,788 |
Does the variant impacting TRAPPC2 on chromosome X, position 13716052, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_spastic_paraplegia_4', 'Spondyloepiphyseal_dysplasia_tarda'] | CGTGGTGGCACGCGCCTGTAGTCCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGCAACAGAGTGAGACTCTGTATCAGAAAAAAAAAAAAAAAAAAAACATGATTATTGATAATGAACTCTTTATAAATAACACTGTTCACAAGGAAATACCAATTGATCTATTGATACGTGACATGAGACAGAATGTACTATTTTTAAATATAAAAGGAATTTCATTAGGTTTAGATAAGCTGAGAATACACAAAAGTTTTCCAGGC... | CGTGGTGGCACGCGCCTGTAGTCCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGCAACAGAGTGAGACTCTGTATCAGAAAAAAAAAAAAAAAAAAAACATGATTATTGATAATGAACTCTTTATAAATAACACTGTTCACAAGGAAATACCAATTGATCTATTGATACGTGACATGAGACAGAATGTACTATTTTTAAATATAAAAGGAATTTCATTAGGTTTAGATAAGCTGAGAATACACAAAAGTTTTCCAGGC... | pathogenic | 329,843 |
The mutation in gene TRAPPC2 at chromosome X, position 13716085—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Spondyloepiphyseal_dysplasia_tarda'] | GGAGGCTGAGGCAGGAGAATCGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGCAACAGAGTGAGACTCTGTATCAGAAAAAAAAAAAAAAAAAAAACATGATTATTGATAATGAACTCTTTATAAATAACACTGTTCACAAGGAAATACCAATTGATCTATTGATACGTGACATGAGACAGAATGTACTATTTTTAAATATAAAAGGAATTTCATTAGGTTTAGATAAGCTGAGAATACACAAAAGTTTTCCAGGCTATTTAATCAAGTAACTTACAATGTACACATTC... | GGAGGCTGAGGCAGGAGAATCGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGCAACAGAGTGAGACTCTGTATCAGAAAAAAAAAAAAAAAAAAAACATGATTATTGATAATGAACTCTTTATAAATAACACTGTTCACAAGGAAATACCAATTGATCTATTGATACGTGACATGAGACAGAATGTACTATTTTTAAATATAAAAGGAATTTCATTAGGTTTAGATAAGCTGAGAATACACAAAAGTTTTCCAGGCTATTTAATCAAGTAACTTACAATGTACACATTC... | pathogenic | 329,844 |
Mutation at chromosome X, position 13716579, within TRAPPC2: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Spondyloepiphyseal_dysplasia_tarda'] | AGCAAAAAAGCTGACAAATCTTAAGTTTCTGAAAGGAAATCATTTTAAAGTTTTAAATTAAAAACCAAAGACATTCCAAAGTCTAAAGACCACATTTTTAAGTTTTATTGAAAATGCTGCATTGTTAATAACATCCTCTTAAGGAAATTTTTATTTTGGTGTTTTGGTTTTGAGAAGTATCTGTGGCAAAACTAATGGCAGTATGATAAATGTTGCCTGTGTCAGTTAACTTTCAGAATTTACCGTGTGTGTGAAATACTCATATTCATTATAAATAAATGGATTAATCTCTATGGCCCTTTGGCTACATAAAACAAAAA... | AGCAAAAAAGCTGACAAATCTTAAGTTTCTGAAAGGAAATCATTTTAAAGTTTTAAATTAAAAACCAAAGACATTCCAAAGTCTAAAGACCACATTTTTAAGTTTTATTGAAAATGCTGCATTGTTAATAACATCCTCTTAAGGAAATTTTTATTTTGGTGTTTTGGTTTTGAGAAGTATCTGTGGCAAAACTAATGGCAGTATGATAAATGTTGCCTGTGTCAGTTAACTTTCAGAATTTACCGTGTGTGTGAAATACTCATATTCATTATAAATAAATGGATTAATCTCTATGGCCCTTTGGCTACATAAAACAAAAA... | pathogenic | 329,847 |
Is the genetic variant on chromosome X, position 13739016, gene OFD1 (OFD1 centriole and centriolar satellite protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_10', 'Orofaciodigital_syndrome_I', 'Retinitis_pigmentosa_23', 'Simpson-Golabi-Behmel_syndrome_type_2'] | GACTCTGCCAATCTGCTGAATGTCTGCTGTAAGCTTGGCACTGTGATAGGCACACTGCAGATGTTTTGTGTGTTACGGATGAGGAACCAGACTCTGGAGAGGTGAATCAATTTGCCCAACATCAAGTAACTTTTAAGTGACAATGCAGGGTGGTAAATCTAGATCTCTAACATGAGCTCTTTTTTTCCTGCACTAGTTTCTTCAGATGTTTCTCTTTGTAATTAGATAAGTGAGAAATACGTAATTTAAAAAATCTGTAAAGTTCTCAAATATTAAAAACACTTGTTTTTTTTTTTTACTACTTTTCTAATTATTTTAAC... | GACTCTGCCAATCTGCTGAATGTCTGCTGTAAGCTTGGCACTGTGATAGGCACACTGCAGATGTTTTGTGTGTTACGGATGAGGAACCAGACTCTGGAGAGGTGAATCAATTTGCCCAACATCAAGTAACTTTTAAGTGACAATGCAGGGTGGTAAATCTAGATCTCTAACATGAGCTCTTTTTTTCCTGCACTAGTTTCTTCAGATGTTTCTCTTTGTAATTAGATAAGTGAGAAATACGTAATTTAAAAAATCTGTAAAGTTCTCAAATATTAAAAACACTTGTTTTTTTTTTTTACTACTTTTCTAATTATTTTAAC... | pathogenic | 329,868 |
Gene mutation in OFD1 (OFD1 centriole and centriolar satellite protein) at chromosome X, position 13744427—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Orofaciodigital_syndrome_I'] | ATAAAACTTCCAGATGAGAACAGTAGAAAGTCTGTGATCTTGGGTTTCGTGATGAGATGTAACACCAAGAGCAAGATACATGAAAGAAAAAAGTAGATCAGTTAGACTTTATTAAAATTAAAAACATCTCTGTGAAAGACACTGTTCTTTTTGTTTTGTTTTTGAGACGGAGTTTCACTCTGCCACCCAGGCTGGAGTGCAGTGGCGTGACCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTTG... | ATAAAACTTCCAGATGAGAACAGTAGAAAGTCTGTGATCTTGGGTTTCGTGATGAGATGTAACACCAAGAGCAAGATACATGAAAGAAAAAAGTAGATCAGTTAGACTTTATTAAAATTAAAAACATCTCTGTGAAAGACACTGTTCTTTTTGTTTTGTTTTTGAGACGGAGTTTCACTCTGCCACCCAGGCTGGAGTGCAGTGGCGTGACCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTTG... | pathogenic | 329,871 |
Located at chromosome X position 13744532, the variant affecting gene OFD1 (OFD1 centriole and centriolar satellite protein)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | ACTTTATTAAAATTAAAAACATCTCTGTGAAAGACACTGTTCTTTTTGTTTTGTTTTTGAGACGGAGTTTCACTCTGCCACCCAGGCTGGAGTGCAGTGGCGTGACCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTTGTGTTTTCAATAGAGATGGGGTTCACCATGTTGATCAGGCTGGTCTCGATCCCCTGACCTCAGGTGATCGCCTGCCTCAGCCTCCCAGAGTGCTGGGATGACAAGC... | ACTTTATTAAAATTAAAAACATCTCTGTGAAAGACACTGTTCTTTTTGTTTTGTTTTTGAGACGGAGTTTCACTCTGCCACCCAGGCTGGAGTGCAGTGGCGTGACCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTTGTGTTTTCAATAGAGATGGGGTTCACCATGTTGATCAGGCTGGTCTCGATCCCCTGACCTCAGGTGATCGCCTGCCTCAGCCTCCCAGAGTGCTGGGATGACAAGC... | benign | 329,876 |
Variant at chromosome position 13746337, chromosome X, gene OFD1 (OFD1 centriole and centriolar satellite protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Joubert_syndrome_10'] | GTCTCTAAAAAAAAGGAAAGATATATAATGTAAAAAATGATAATGTCCTAAAACTAAGATTGTAAAAACAGTGACTGAGCAGTGGTTGAAAGTTCTGAAACAAAACTGTATGCATATGTTTTTTAGGTTTTCTTATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGGTAATTATAGCCTTCTTTCTTAATTTCAGTTCTGCTGTTTTCATTTTGAATGAAGGAAATTATCTGATTTACCATATTGTGTGATTGCT... | GTCTCTAAAAAAAAGGAAAGATATATAATGTAAAAAATGATAATGTCCTAAAACTAAGATTGTAAAAACAGTGACTGAGCAGTGGTTGAAAGTTCTGAAACAAAACTGTATGCATATGTTTTTTAGGTTTTCTTATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGGTAATTATAGCCTTCTTTCTTAATTTCAGTTCTGCTGTTTTCATTTTGAATGAAGGAAATTATCTGATTTACCATATTGTGTGATTGCT... | pathogenic | 329,878 |
The chromosome X, position 13746411 genetic variant in gene OFD1 (OFD1 centriole and centriolar satellite protein): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Orofaciodigital_syndrome_I'] | CTGAGCAGTGGTTGAAAGTTCTGAAACAAAACTGTATGCATATGTTTTTTAGGTTTTCTTATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGGTAATTATAGCCTTCTTTCTTAATTTCAGTTCTGCTGTTTTCATTTTGAATGAAGGAAATTATCTGATTTACCATATTGTGTGATTGCTCCTTGAACTGGAGGGATGCAGCCGGCAGGCAACAAGGGAATTCATTTCTGGAATCATCTTGGGGGACCAGGAAG... | CTGAGCAGTGGTTGAAAGTTCTGAAACAAAACTGTATGCATATGTTTTTTAGGTTTTCTTATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGGTAATTATAGCCTTCTTTCTTAATTTCAGTTCTGCTGTTTTCATTTTGAATGAAGGAAATTATCTGATTTACCATATTGTGTGATTGCTCCTTGAACTGGAGGGATGCAGCCGGCAGGCAACAAGGGAATTCATTTCTGGAATCATCTTGGGGGACCAGGAAG... | pathogenic | 329,880 |
Chromosome X, position 13746411, gene OFD1 (OFD1 centriole and centriolar satellite protein): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Orofaciodigital_syndrome_I'] | CTGAGCAGTGGTTGAAAGTTCTGAAACAAAACTGTATGCATATGTTTTTTAGGTTTTCTTATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGGTAATTATAGCCTTCTTTCTTAATTTCAGTTCTGCTGTTTTCATTTTGAATGAAGGAAATTATCTGATTTACCATATTGTGTGATTGCTCCTTGAACTGGAGGGATGCAGCCGGCAGGCAACAAGGGAATTCATTTCTGGAATCATCTTGGGGGACCAGGAAG... | CTGAGCAGTGGTTGAAAGTTCTGAAACAAAACTGTATGCATATGTTTTTTAGGTTTTCTTATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGGTAATTATAGCCTTCTTTCTTAATTTCAGTTCTGCTGTTTTCATTTTGAATGAAGGAAATTATCTGATTTACCATATTGTGTGATTGCTCCTTGAACTGGAGGGATGCAGCCGGCAGGCAACAAGGGAATTCATTTCTGGAATCATCTTGGGGGACCAGGAAG... | pathogenic | 329,881 |
Evaluate if the mutation on chromosome X at position 13746826 in OFD1 (OFD1 centriole and centriolar satellite protein) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Joubert_syndrome_10', 'OFD1-related_disorder', 'Orofaciodigital_syndrome_I', 'Retinitis_pigmentosa_23', 'Simpson-Golabi-Behmel_syndrome', 'Simpson-Golabi-Behmel_syndrome_type_2'] | GAGTTTGACTTCTCTTAACTGGGAGGTTCTTCCTCGTGTCTTGTCTAACTTTACAGCCACCCAGTTAGAAGATTATAAACTACTTGCTTTGCAAAGTACTAGAGAAGTCAGTGACTTATCACTTCATTTTATAGTTGAGGAAACCGAGGTCCTCAGAGGAAGAGCAACTTGGAAACACTCAGTCTGCATCAGAACTAATAGTGGAGTCCAAGTTCTCCCATCCATGATCTGGAGCTTTTTGTACTATCCAGCTGGTCTGCAGTACCATCCTGTCTGTCAGTTTCGTGCTCAGTAGAGATGGGAAATAGCTGTTTAAAACG... | GAGTTTGACTTCTCTTAACTGGGAGGTTCTTCCTCGTGTCTTGTCTAACTTTACAGCCACCCAGTTAGAAGATTATAAACTACTTGCTTTGCAAAGTACTAGAGAAGTCAGTGACTTATCACTTCATTTTATAGTTGAGGAAACCGAGGTCCTCAGAGGAAGAGCAACTTGGAAACACTCAGTCTGCATCAGAACTAATAGTGGAGTCCAAGTTCTCCCATCCATGATCTGGAGCTTTTTGTACTATCCAGCTGGTCTGCAGTACCATCCTGTCTGTCAGTTTCGTGCTCAGTAGAGATGGGAAATAGCTGTTTAAAACG... | pathogenic | 329,885 |
Variant at chromosome position 13746826, chromosome X, gene OFD1 (OFD1 centriole and centriolar satellite protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['COACH_syndrome', 'Familial_aplasia_of_the_vermis', 'OFD1-related_disorder', 'Orofaciodigital_syndrome_I'] | GAGTTTGACTTCTCTTAACTGGGAGGTTCTTCCTCGTGTCTTGTCTAACTTTACAGCCACCCAGTTAGAAGATTATAAACTACTTGCTTTGCAAAGTACTAGAGAAGTCAGTGACTTATCACTTCATTTTATAGTTGAGGAAACCGAGGTCCTCAGAGGAAGAGCAACTTGGAAACACTCAGTCTGCATCAGAACTAATAGTGGAGTCCAAGTTCTCCCATCCATGATCTGGAGCTTTTTGTACTATCCAGCTGGTCTGCAGTACCATCCTGTCTGTCAGTTTCGTGCTCAGTAGAGATGGGAAATAGCTGTTTAAAACG... | GAGTTTGACTTCTCTTAACTGGGAGGTTCTTCCTCGTGTCTTGTCTAACTTTACAGCCACCCAGTTAGAAGATTATAAACTACTTGCTTTGCAAAGTACTAGAGAAGTCAGTGACTTATCACTTCATTTTATAGTTGAGGAAACCGAGGTCCTCAGAGGAAGAGCAACTTGGAAACACTCAGTCTGCATCAGAACTAATAGTGGAGTCCAAGTTCTCCCATCCATGATCTGGAGCTTTTTGTACTATCCAGCTGGTCTGCAGTACCATCCTGTCTGTCAGTTTCGTGCTCAGTAGAGATGGGAAATAGCTGTTTAAAACG... | pathogenic | 329,886 |
Does the variant on chromosome X at location 13749121 affecting gene OFD1 (OFD1 centriole and centriolar satellite protein) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TGGGGCCAAGAGTGCAAATAGAAGGATGGTCCTTGAAAAGGATACACAAATTTGCTTCCTCTGAGACTGATGGAAAGGCGAGAACTGTGGAGGTGAACAATCAAGTTGGGATTATGAGAAACACACCCTAAATAAGCTCCATCTCCTCAGGCAGATTAGAGGGTTAGATCTTGGGTTTTAGGAGCAGATTGGAGGTGCAGAGTAGTTCCTGTGGGTAAGGGAAGAACAGCCCTTTAAAGCAGAGAGGACTGATCACCTGTATTGAGGGCTCAGCTGTGGTTGGGGGAGCCTGGAATTGAGAGAGGTCAAACCAGGTGCTT... | TGGGGCCAAGAGTGCAAATAGAAGGATGGTCCTTGAAAAGGATACACAAATTTGCTTCCTCTGAGACTGATGGAAAGGCGAGAACTGTGGAGGTGAACAATCAAGTTGGGATTATGAGAAACACACCCTAAATAAGCTCCATCTCCTCAGGCAGATTAGAGGGTTAGATCTTGGGTTTTAGGAGCAGATTGGAGGTGCAGAGTAGTTCCTGTGGGTAAGGGAAGAACAGCCCTTTAAAGCAGAGAGGACTGATCACCTGTATTGAGGGCTCAGCTGTGGTTGGGGGAGCCTGGAATTGAGAGAGGTCAAACCAGGTGCTT... | benign | 329,890 |
Determine if the mutation at chromosome X, position 13749121 in gene OFD1 (OFD1 centriole and centriolar satellite protein) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TGGGGCCAAGAGTGCAAATAGAAGGATGGTCCTTGAAAAGGATACACAAATTTGCTTCCTCTGAGACTGATGGAAAGGCGAGAACTGTGGAGGTGAACAATCAAGTTGGGATTATGAGAAACACACCCTAAATAAGCTCCATCTCCTCAGGCAGATTAGAGGGTTAGATCTTGGGTTTTAGGAGCAGATTGGAGGTGCAGAGTAGTTCCTGTGGGTAAGGGAAGAACAGCCCTTTAAAGCAGAGAGGACTGATCACCTGTATTGAGGGCTCAGCTGTGGTTGGGGGAGCCTGGAATTGAGAGAGGTCAAACCAGGTGCTT... | TGGGGCCAAGAGTGCAAATAGAAGGATGGTCCTTGAAAAGGATACACAAATTTGCTTCCTCTGAGACTGATGGAAAGGCGAGAACTGTGGAGGTGAACAATCAAGTTGGGATTATGAGAAACACACCCTAAATAAGCTCCATCTCCTCAGGCAGATTAGAGGGTTAGATCTTGGGTTTTAGGAGCAGATTGGAGGTGCAGAGTAGTTCCTGTGGGTAAGGGAAGAACAGCCCTTTAAAGCAGAGAGGACTGATCACCTGTATTGAGGGCTCAGCTGTGGTTGGGGGAGCCTGGAATTGAGAGAGGTCAAACCAGGTGCTT... | benign | 329,891 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 13749472, gene OFD1 (OFD1 centriole and centriolar satellite protein): what disease(s) if pathogenic? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Orofaciodigital_syndrome_I'] | GGATTTGTAAGTATCTCTCTGTCCCTTTCAGTGAGGGTGGAAAGATGGAGATGCTTGGGAAGTAGAGCTTTTCAGAGCCTTATTTGACTAGAGAAAGGCAGCCTACTTAATCGAAGATTCTGGGGCTCTCTTGGGTAGTGAAGGGAAGCAGAGGAGAGGGCAGGTGGCTGCTAACCTAGGGGGAAAGGAAGGGTTGAGTGGCAGTCTCAGTGATCAAGGACTCGATCTGGATAGACTGGTAGGTGGAAGAATGAGGATGGTCCAAGATTACAGAATTGCAGGATGAGGTTTCAGGTGGAGACTAGAAACCAAATGCAGTA... | GGATTTGTAAGTATCTCTCTGTCCCTTTCAGTGAGGGTGGAAAGATGGAGATGCTTGGGAAGTAGAGCTTTTCAGAGCCTTATTTGACTAGAGAAAGGCAGCCTACTTAATCGAAGATTCTGGGGCTCTCTTGGGTAGTGAAGGGAAGCAGAGGAGAGGGCAGGTGGCTGCTAACCTAGGGGGAAAGGAAGGGTTGAGTGGCAGTCTCAGTGATCAAGGACTCGATCTGGATAGACTGGTAGGTGGAAGAATGAGGATGGTCCAAGATTACAGAATTGCAGGATGAGGTTTCAGGTGGAGACTAGAAACCAAATGCAGTA... | pathogenic | 329,893 |
Regarding the variant at chromosome X and position 13753425, affecting gene OFD1 (OFD1 centriole and centriolar satellite protein): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Orofaciodigital_syndrome_I', 'Primary_ciliary_dyskinesia'] | TTAGCATTTTTAAATAACTAATATGTTTAAATTAAATTGGTAGAAACATAACAAAAACTGACAAAGTAGTCTGTAACTTAGGCAAACTTTAGTGTTTGAAAAAAAAAAAACATAGTTTTATCGATACAGTCAATCCTTTCCTGCATTTGAGTTAGGATAGTTTTTAAAAGATAAGGGCCGGGTGTGGTGGCTCATGCCTATAATCCCAGCACTCTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTGCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGT... | TTAGCATTTTTAAATAACTAATATGTTTAAATTAAATTGGTAGAAACATAACAAAAACTGACAAAGTAGTCTGTAACTTAGGCAAACTTTAGTGTTTGAAAAAAAAAAAACATAGTTTTATCGATACAGTCAATCCTTTCCTGCATTTGAGTTAGGATAGTTTTTAAAAGATAAGGGCCGGGTGTGGTGGCTCATGCCTATAATCCCAGCACTCTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTGCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGT... | pathogenic | 329,899 |
Is the genetic change at chromosome X, position 13755207, within gene OFD1 (OFD1 centriole and centriolar satellite protein) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_10', 'Orofaciodigital_syndrome_I', 'Primary_ciliary_dyskinesia', 'Retinitis_pigmentosa_23', 'Simpson-Golabi-Behmel_syndrome_type_2'] | CCCAGTTTATAGGATCAAGGAAGGGTTTTACTGGGCATTTTATGTTCAGGGGTTATATCCCTGGCTTTAGTATTGAGGACTTTGAAGTTTACAAGTTGTCATGTTTAGCACCCTCAGGTGCTCCTGTGCCATAGATAAGCTCCTGCACTGATAACAGTCTTTCCAGAAAAATGCCTGAGGAGCTCATATTTAGTCATTCTGATTCTCAGGTATCAACTTGAACTGAAGGATGACTACATCATTAGAACTAATCGACTGATTGAAGATGAAAGGAAGAATAAAGGTGATGTTTGGGGGGAAAATAAGCTGTATTTTTCAGT... | CCCAGTTTATAGGATCAAGGAAGGGTTTTACTGGGCATTTTATGTTCAGGGGTTATATCCCTGGCTTTAGTATTGAGGACTTTGAAGTTTACAAGTTGTCATGTTTAGCACCCTCAGGTGCTCCTGTGCCATAGATAAGCTCCTGCACTGATAACAGTCTTTCCAGAAAAATGCCTGAGGAGCTCATATTTAGTCATTCTGATTCTCAGGTATCAACTTGAACTGAAGGATGACTACATCATTAGAACTAATCGACTGATTGAAGATGAAAGGAAGAATAAAGGTGATGTTTGGGGGGAAAATAAGCTGTATTTTTCAGT... | pathogenic | 329,904 |
Evaluate if the mutation on chromosome X at position 13756718 in OFD1 (OFD1 centriole and centriolar satellite protein) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Orofaciodigital_syndrome_I'] | AGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCCTTTTACTATCTTGTGGAGACTAATACTTCTTTTATGCATTAATACCATTACGTATGTAACAAATTATGGTTTGATGATATATCTACATAGACTTGTGTTAGATGAAGTGAAAACTACAAAATAGTAACTACAATATAGTAACAGACAGATCTTTGTCTTCAAGGAAGTTAAGAGCTGTGGGTATTAGGGCCCTGTGCTTTGAGCACATGGTATAACTCTGGTTAGCATGTATAGCAAGTGGAATTTCACCACATATATGACAGTTACAGCTTCACATCAC... | AGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCCTTTTACTATCTTGTGGAGACTAATACTTCTTTTATGCATTAATACCATTACGTATGTAACAAATTATGGTTTGATGATATATCTACATAGACTTGTGTTAGATGAAGTGAAAACTACAAAATAGTAACTACAATATAGTAACAGACAGATCTTTGTCTTCAAGGAAGTTAAGAGCTGTGGGTATTAGGGCCCTGTGCTTTGAGCACATGGTATAACTCTGGTTAGCATGTATAGCAAGTGGAATTTCACCACATATATGACAGTTACAGCTTCACATCAC... | pathogenic | 329,909 |
Is the genetic change at chromosome X, position 13757633, within gene OFD1 (OFD1 centriole and centriolar satellite protein) benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATGTGCCTAGTTCATAGCAGGTGGCCATTACTATTAGTTTCTACATCAGCCTGTTATCTCCTTCCATCAGCAGCAGGTAAACAAAATTCCTGTCATTACATTGTTATCTTACAGATTAAAACAAAATGAGGTACATTTTTCACATATCATTGCTTCTTTACTTTTCTGTTCATTCGTGTGCTTGCTGTCTGAAGGATGAAGCTGGAACTTTAGGTACTTACAACATATTTTGTATATGAAATTTATTTTAGCAACTGTGACTTATGTGAGAACTTTGTAGGCTTTTTACTCAAATATGAGATATACTAAGAAAAGGGAAG... | ATGTGCCTAGTTCATAGCAGGTGGCCATTACTATTAGTTTCTACATCAGCCTGTTATCTCCTTCCATCAGCAGCAGGTAAACAAAATTCCTGTCATTACATTGTTATCTTACAGATTAAAACAAAATGAGGTACATTTTTCACATATCATTGCTTCTTTACTTTTCTGTTCATTCGTGTGCTTGCTGTCTGAAGGATGAAGCTGGAACTTTAGGTACTTACAACATATTTTGTATATGAAATTTATTTTAGCAACTGTGACTTATGTGAGAACTTTGTAGGCTTTTTACTCAAATATGAGATATACTAAGAAAAGGGAAG... | benign | 329,911 |
Variant at chromosome position 13760436, chromosome X, gene OFD1 (OFD1 centriole and centriolar satellite protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Orofaciodigital_syndrome_I'] | GTAAAGAGTTTAACTACTCAGGTTGCCGATTTAAAATTGCAACTGAAGCAAACTCAGACAGGTTAGAGACGTTTTAACCCATAAATATTTTTGTATGTATAAAGCTTCTGGTGTCTGTGAAAATGTAATGATCATAATTTATTGAATATTAATTATTGTTTTAGGGGAAAAGCCATAGAAATATGTGTCATCTTAGAAGTAAAACTCCCTATCCATTTTGGTAATACCATCTGGATCATCAGCAAAAGTATTTTGCTTCATAGGTGCCTCATGGCTTGGGAGAGTCTCATGCCCCAATAGGAAAGGCGTGGTGGTAACAT... | GTAAAGAGTTTAACTACTCAGGTTGCCGATTTAAAATTGCAACTGAAGCAAACTCAGACAGGTTAGAGACGTTTTAACCCATAAATATTTTTGTATGTATAAAGCTTCTGGTGTCTGTGAAAATGTAATGATCATAATTTATTGAATATTAATTATTGTTTTAGGGGAAAAGCCATAGAAATATGTGTCATCTTAGAAGTAAAACTCCCTATCCATTTTGGTAATACCATCTGGATCATCAGCAAAAGTATTTTGCTTCATAGGTGCCTCATGGCTTGGGAGAGTCTCATGCCCCAATAGGAAAGGCGTGGTGGTAACAT... | pathogenic | 329,927 |
Regarding the variant found on chromosome X at position 13762452 in gene OFD1 (OFD1 centriole and centriolar satellite protein): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTTCAGAAGTTACCATCGGAGAGTCATTAAAAACTCTGCCAAAAGCCCACTAGCAGCAAAGAGCCCACCATCTCTGCACTTGCTGGAAGCCTTCAAAAACATTACTTCCAGTTCCCCGGAAAGACATATTTTTGGAGAGGACAGAGTTGTCTCTGAGCAGCCTCAAGTGGGCACACTTGAAGAAAGGAATGACGTCGTGGAAGCACTGACAGGCAGTGCAGCCTCGAGGCTCCGCGGGGGCACTTCCTCCAGACGCCTCTCTTCCACACCCCTTCCAAAAGCAAAAAGAAGCCTCGAAAGTGAAATGTATCTGGAAGGTA... | TTTCAGAAGTTACCATCGGAGAGTCATTAAAAACTCTGCCAAAAGCCCACTAGCAGCAAAGAGCCCACCATCTCTGCACTTGCTGGAAGCCTTCAAAAACATTACTTCCAGTTCCCCGGAAAGACATATTTTTGGAGAGGACAGAGTTGTCTCTGAGCAGCCTCAAGTGGGCACACTTGAAGAAAGGAATGACGTCGTGGAAGCACTGACAGGCAGTGCAGCCTCGAGGCTCCGCGGGGGCACTTCCTCCAGACGCCTCTCTTCCACACCCCTTCCAAAAGCAAAAAGAAGCCTCGAAAGTGAAATGTATCTGGAAGGTA... | benign | 329,947 |
Evaluate if the mutation on chromosome X at position 13768079 in OFD1 (OFD1 centriole and centriolar satellite protein) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Inborn_genetic_diseases', 'Orofaciodigital_syndrome_I', 'Primary_ciliary_dyskinesia'] | GCAAGGAAGATAGAGCCACGGCCAGGCCCCAGTGAGTGGGTTGGTACAGATGAAATATTTCTCGTACAAAGTTGGTGGTGATGTAGGAAATCAATCTGGGAAGAAAAGGGCAGGTTGTCAGAGCCCAGACTACCATGGCGTAGGACTCTTATCAGAGCGGAGATGCTGCACAGCAGATCCACATCTTCCCCTCAGGAAATGCCTGGTGCAGATGACCACAGGTTGTTGGAAGGCAGAGACTGGCTTCAGGAAGAGCCTTGACTGGGCTGTTTCAGTAGTCCAGGGAGATGGTGAGAAGGGCCCCTGTTGCAGCCACAGGA... | GCAAGGAAGATAGAGCCACGGCCAGGCCCCAGTGAGTGGGTTGGTACAGATGAAATATTTCTCGTACAAAGTTGGTGGTGATGTAGGAAATCAATCTGGGAAGAAAAGGGCAGGTTGTCAGAGCCCAGACTACCATGGCGTAGGACTCTTATCAGAGCGGAGATGCTGCACAGCAGATCCACATCTTCCCCTCAGGAAATGCCTGGTGCAGATGACCACAGGTTGTTGGAAGGCAGAGACTGGCTTCAGGAAGAGCCTTGACTGGGCTGTTTCAGTAGTCCAGGGAGATGGTGAGAAGGGCCCCTGTTGCAGCCACAGGA... | pathogenic | 329,957 |
Variant on chromosome X, at position 13768800, affecting OFD1 (OFD1 centriole and centriolar satellite protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCTCAGTCTGGGTCCTAAAGATAGGGGAGGGATTATAATCAAAGGCAGAGGCAGAAATGCAGGGTTTGCCTTGGAAAGGAGGGAGGAGATCTGTGAAGAGGATGAGAACATGTGACATGGAAGGAGGACAGTTGGAGTTGGTTATGGTGAGGGTGACGTATTTGTCTCAGTCAAGTGAAGTAGGGTACAGTTCAAGGAGTGGGGTCGGGAGCTTGAAGTCGGTGAAAATGAAATAGTGACTTGAAGCAGGTCACAGAGTCAACTAAAAGCCAAGCAGAGTCTCCGTGGGTCTTGGCAAGGGCTCCTGCAGACTGGTCCTG... | GCTCAGTCTGGGTCCTAAAGATAGGGGAGGGATTATAATCAAAGGCAGAGGCAGAAATGCAGGGTTTGCCTTGGAAAGGAGGGAGGAGATCTGTGAAGAGGATGAGAACATGTGACATGGAAGGAGGACAGTTGGAGTTGGTTATGGTGAGGGTGACGTATTTGTCTCAGTCAAGTGAAGTAGGGTACAGTTCAAGGAGTGGGGTCGGGAGCTTGAAGTCGGTGAAAATGAAATAGTGACTTGAAGCAGGTCACAGAGTCAACTAAAAGCCAAGCAGAGTCTCCGTGGGTCTTGGCAAGGGCTCCTGCAGACTGGTCCTG... | benign | 329,963 |
Is the genetic variant on chromosome X, position 14850676, gene FANCB (FA complementation group B), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AAAGATTGTGTTTCTGTTTTAAGGCTCTGTTAGAAATTACTGACACACACACTATATTGTAAATTCTTATCTCTGTATACTGTACTTCTACATACAAAAATGTACTGTACTTCTACATACAAATGTTATGTTAAAGAATTACTTCATCCCCACGTGACCATCTCACCTCATAATCAAACGACCCTAAATCCCTCACTAACCTACCCCCGCCCTCACTAACCTTAATAATAAATGCTGGTATATCCAGTGCATTGTTGGCAGTGTGGGACCAGAAAGCAGTGACCCCCCCGGACCCAGCTTTCACTATCTTGTGTGTGTGT... | AAAGATTGTGTTTCTGTTTTAAGGCTCTGTTAGAAATTACTGACACACACACTATATTGTAAATTCTTATCTCTGTATACTGTACTTCTACATACAAAAATGTACTGTACTTCTACATACAAATGTTATGTTAAAGAATTACTTCATCCCCACGTGACCATCTCACCTCATAATCAAACGACCCTAAATCCCTCACTAACCTACCCCCGCCCTCACTAACCTTAATAATAAATGCTGGTATATCCAGTGCATTGTTGGCAGTGTGGGACCAGAAAGCAGTGACCCCCCCGGACCCAGCTTTCACTATCTTGTGTGTGTGT... | benign | 330,005 |
Clinical significance of chromosome X, position 14850676, gene FANCB (FA complementation group B): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AAAGATTGTGTTTCTGTTTTAAGGCTCTGTTAGAAATTACTGACACACACACTATATTGTAAATTCTTATCTCTGTATACTGTACTTCTACATACAAAAATGTACTGTACTTCTACATACAAATGTTATGTTAAAGAATTACTTCATCCCCACGTGACCATCTCACCTCATAATCAAACGACCCTAAATCCCTCACTAACCTACCCCCGCCCTCACTAACCTTAATAATAAATGCTGGTATATCCAGTGCATTGTTGGCAGTGTGGGACCAGAAAGCAGTGACCCCCCCGGACCCAGCTTTCACTATCTTGTGTGTGTGT... | AAAGATTGTGTTTCTGTTTTAAGGCTCTGTTAGAAATTACTGACACACACACTATATTGTAAATTCTTATCTCTGTATACTGTACTTCTACATACAAAAATGTACTGTACTTCTACATACAAATGTTATGTTAAAGAATTACTTCATCCCCACGTGACCATCTCACCTCATAATCAAACGACCCTAAATCCCTCACTAACCTACCCCCGCCCTCACTAACCTTAATAATAAATGCTGGTATATCCAGTGCATTGTTGGCAGTGTGGGACCAGAAAGCAGTGACCCCCCCGGACCCAGCTTTCACTATCTTGTGTGTGTGT... | benign | 330,006 |
Clinical classification of chromosome X, position 14857956, gene FANCB (FA complementation group B): benign or pathogenic? Disease(s) if pathogenic? | benign | ATTTGATAATTTATTCTTAGAGTGTCAGCTTTTTGAAGCTTCTAAGAATGTTTTTAAAGGAGACTTCATCTATCATTTTCAGTTTTAATCAGGAGAGTTGGTCCTGCTTCATAAATTAAGCCTTTCATAAAGTCATGCTTTCATAAATTAAAGTACTTTGGCATCATTTCTAAATCAGTATAAAAATATACACTATTCTTTTTGACAGCTACATAGTATTCCATAGTTCAGGCACATCACAATTTACTTATCATACTCCTAATGATGTATGTTTAGATTTGGACCAATATTGTAGTTTATAAATACTACATAAACATTCT... | ATTTGATAATTTATTCTTAGAGTGTCAGCTTTTTGAAGCTTCTAAGAATGTTTTTAAAGGAGACTTCATCTATCATTTTCAGTTTTAATCAGGAGAGTTGGTCCTGCTTCATAAATTAAGCCTTTCATAAAGTCATGCTTTCATAAATTAAAGTACTTTGGCATCATTTCTAAATCAGTATAAAAATATACACTATTCTTTTTGACAGCTACATAGTATTCCATAGTTCAGGCACATCACAATTTACTTATCATACTCCTAATGATGTATGTTTAGATTTGGACCAATATTGTAGTTTATAAATACTACATAAACATTCT... | benign | 330,010 |
Considering the genetic mutation at chromosome X, position 14857956, impacting FANCB (FA complementation group B): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ATTTGATAATTTATTCTTAGAGTGTCAGCTTTTTGAAGCTTCTAAGAATGTTTTTAAAGGAGACTTCATCTATCATTTTCAGTTTTAATCAGGAGAGTTGGTCCTGCTTCATAAATTAAGCCTTTCATAAAGTCATGCTTTCATAAATTAAAGTACTTTGGCATCATTTCTAAATCAGTATAAAAATATACACTATTCTTTTTGACAGCTACATAGTATTCCATAGTTCAGGCACATCACAATTTACTTATCATACTCCTAATGATGTATGTTTAGATTTGGACCAATATTGTAGTTTATAAATACTACATAAACATTCT... | ATTTGATAATTTATTCTTAGAGTGTCAGCTTTTTGAAGCTTCTAAGAATGTTTTTAAAGGAGACTTCATCTATCATTTTCAGTTTTAATCAGGAGAGTTGGTCCTGCTTCATAAATTAAGCCTTTCATAAAGTCATGCTTTCATAAATTAAAGTACTTTGGCATCATTTCTAAATCAGTATAAAAATATACACTATTCTTTTTGACAGCTACATAGTATTCCATAGTTCAGGCACATCACAATTTACTTATCATACTCCTAATGATGTATGTTTAGATTTGGACCAATATTGTAGTTTATAAATACTACATAAACATTCT... | benign | 330,011 |
A mutation at chromosome position 14864659 on chromosome X in gene FANCB (FA complementation group B): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['FANCB-related_disorder', 'Fanconi_anemia'] | TAAGTGTAAGTAACTGATGACAGCCCTGGCTTTTGTCTAACAGTAATATAACAGAGTAATAGCTACTACTAACTGAGTTCCTCCTATGTGTCAAGCTCTGTGCAAGACACTTTACAATGTCATTTGACTTAATTCTCCCCTCTCAGAGTCAGAATGATCCCAAATTTCATAAAGGAGGAAAATGAGTTCACAAGAATTACATTCCTTAAGGTAACACTGGTAAGTGGCTCAGTTGGGATTCAAACCCAGGGTACGTGTGTTCTTTCTATTATATTACCTTGACTACAGTAAAACACTATAGGGTATACCAGATGTTTTTC... | TAAGTGTAAGTAACTGATGACAGCCCTGGCTTTTGTCTAACAGTAATATAACAGAGTAATAGCTACTACTAACTGAGTTCCTCCTATGTGTCAAGCTCTGTGCAAGACACTTTACAATGTCATTTGACTTAATTCTCCCCTCTCAGAGTCAGAATGATCCCAAATTTCATAAAGGAGGAAAATGAGTTCACAAGAATTACATTCCTTAAGGTAACACTGGTAAGTGGCTCAGTTGGGATTCAAACCCAGGGTACGTGTGTTCTTTCTATTATATTACCTTGACTACAGTAAAACACTATAGGGTATACCAGATGTTTTTC... | pathogenic | 330,016 |
Is the variant located on chromosome X at position 17375961, gene NHS (NHS actin remodeling regulator), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CTCCCTTCATACATACACATCTTTATTATCATCATTCTTCTTCTTGTTGTTACTGAAACATTTATGTGTACTTTGCAGACATCATGGCCCTTTACCCCCAAAGCCTCAGCCTGGATCTTTTATGAACAAGGATATGTCCTTGCCGAAAATTTTGGTTTTTTTTTGTTTTTTTTTTTTTGTTTTGTAGAATAAGACAAGGGTCTGTTGAAGCCTTTAAAACCAAAGCGTGGGCCAGTCCAAAGTGCTGACTGTTGGAGCCTCCTCCCTCTCCCGCCTTTAGAGGGAGGAGAGGAGACACCACCGCAGGTCTGGAGGACTTT... | CTCCCTTCATACATACACATCTTTATTATCATCATTCTTCTTCTTGTTGTTACTGAAACATTTATGTGTACTTTGCAGACATCATGGCCCTTTACCCCCAAAGCCTCAGCCTGGATCTTTTATGAACAAGGATATGTCCTTGCCGAAAATTTTGGTTTTTTTTTGTTTTTTTTTTTTTGTTTTGTAGAATAAGACAAGGGTCTGTTGAAGCCTTTAAAACCAAAGCGTGGGCCAGTCCAAAGTGCTGACTGTTGGAGCCTCCTCCCTCTCCCGCCTTTAGAGGGAGGAGAGGAGACACCACCGCAGGTCTGGAGGACTTT... | benign | 330,098 |
The genetic variant at chromosome X, position 17376059, affecting gene NHS (NHS actin remodeling regulator): benign or pathogenic? Disease name(s) if pathogenic? | benign | CAAAGCCTCAGCCTGGATCTTTTATGAACAAGGATATGTCCTTGCCGAAAATTTTGGTTTTTTTTTGTTTTTTTTTTTTTGTTTTGTAGAATAAGACAAGGGTCTGTTGAAGCCTTTAAAACCAAAGCGTGGGCCAGTCCAAAGTGCTGACTGTTGGAGCCTCCTCCCTCTCCCGCCTTTAGAGGGAGGAGAGGAGACACCACCGCAGGTCTGGAGGACTTTATTGTTGCCATAAAACATATTTTTTCCATGTTCTCTTTAGAAACACGAAAAGAGGCTGCATTCCCAAGATCTGGCTTGTGGCTTTAAAATAAAAAATA... | CAAAGCCTCAGCCTGGATCTTTTATGAACAAGGATATGTCCTTGCCGAAAATTTTGGTTTTTTTTTGTTTTTTTTTTTTTGTTTTGTAGAATAAGACAAGGGTCTGTTGAAGCCTTTAAAACCAAAGCGTGGGCCAGTCCAAAGTGCTGACTGTTGGAGCCTCCTCCCTCTCCCGCCTTTAGAGGGAGGAGAGGAGACACCACCGCAGGTCTGGAGGACTTTATTGTTGCCATAAAACATATTTTTTCCATGTTCTCTTTAGAAACACGAAAAGAGGCTGCATTCCCAAGATCTGGCTTGTGGCTTTAAAATAAAAAATA... | benign | 330,100 |
Chromosome X, position 17376088, gene NHS (NHS actin remodeling regulator): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AAGGATATGTCCTTGCCGAAAATTTTGGTTTTTTTTTGTTTTTTTTTTTTTGTTTTGTAGAATAAGACAAGGGTCTGTTGAAGCCTTTAAAACCAAAGCGTGGGCCAGTCCAAAGTGCTGACTGTTGGAGCCTCCTCCCTCTCCCGCCTTTAGAGGGAGGAGAGGAGACACCACCGCAGGTCTGGAGGACTTTATTGTTGCCATAAAACATATTTTTTCCATGTTCTCTTTAGAAACACGAAAAGAGGCTGCATTCCCAAGATCTGGCTTGTGGCTTTAAAATAAAAAATATTTTTACAGTATACTTTTTGGAGGCATGA... | AAGGATATGTCCTTGCCGAAAATTTTGGTTTTTTTTTGTTTTTTTTTTTTTGTTTTGTAGAATAAGACAAGGGTCTGTTGAAGCCTTTAAAACCAAAGCGTGGGCCAGTCCAAAGTGCTGACTGTTGGAGCCTCCTCCCTCTCCCGCCTTTAGAGGGAGGAGAGGAGACACCACCGCAGGTCTGGAGGACTTTATTGTTGCCATAAAACATATTTTTTCCATGTTCTCTTTAGAAACACGAAAAGAGGCTGCATTCCCAAGATCTGGCTTGTGGCTTTAAAATAAAAAATATTTTTACAGTATACTTTTTGGAGGCATGA... | benign | 330,101 |
Does the genetic variant at chromosome X, position 17687730, impacting gene NHS (NHS actin remodeling regulator), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TATGCCAATTGATTCTGAAATTTGGGATCACCTGCTGCAGAAAGGTGGACGTGGAGGAGTGAGGACTATAACCTTTTTGGCGTTCAAGGCCTCTAGAGTCTTGATGCCTGAGACCATCCCTAGGGAACTGTATAATACCAAAATAGGAAAAGTCTTCCAGTGTCATTGCTCCCAAACTATTTCATCCAGGCAGAATCACAGTTAAACCATTTTGCACAAAGCCAGAGAACAAATGCTTTATGAGGGTCGGGATTCCTGTGTGTTTTGTTCTGTGCTGTGTTCCAACACCTAGCACCATGCCTGAGACTAAGAGCTACTTG... | TATGCCAATTGATTCTGAAATTTGGGATCACCTGCTGCAGAAAGGTGGACGTGGAGGAGTGAGGACTATAACCTTTTTGGCGTTCAAGGCCTCTAGAGTCTTGATGCCTGAGACCATCCCTAGGGAACTGTATAATACCAAAATAGGAAAAGTCTTCCAGTGTCATTGCTCCCAAACTATTTCATCCAGGCAGAATCACAGTTAAACCATTTTGCACAAAGCCAGAGAACAAATGCTTTATGAGGGTCGGGATTCCTGTGTGTTTTGTTCTGTGCTGTGTTCCAACACCTAGCACCATGCCTGAGACTAAGAGCTACTTG... | benign | 330,106 |
Is the genetic variant on chromosome X, position 17727758, gene NHS (NHS actin remodeling regulator), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Nance-Horan_syndrome'] | TGGGTGACCATGAAAGAACCCCTAATGATTTCAGTGAGGCTCCAAGCAGCCCGAGTGCCCAGGACCACCAGCCTACTTTGGGCCTGGCCTGCTCTCAACATCTTCACAGCCCCCAGCACAAATTAAGTGAGAGGGGAAGGTCACGTCTGTCCCGAATGGCTGCTGACTCTGGCAGCTGTGACATCTCCTCCAACTCAGACACGTTTGGGAGCCCCATCCACTGCATCTCCACGGCTGGCGTCCTCCTTAGCAGCCACATGGACCAGAAAGATGACCACCAGTCATCCAGTGGCAACTGGAGTGGGAGCAGCTCCACGTGC... | TGGGTGACCATGAAAGAACCCCTAATGATTTCAGTGAGGCTCCAAGCAGCCCGAGTGCCCAGGACCACCAGCCTACTTTGGGCCTGGCCTGCTCTCAACATCTTCACAGCCCCCAGCACAAATTAAGTGAGAGGGGAAGGTCACGTCTGTCCCGAATGGCTGCTGACTCTGGCAGCTGTGACATCTCCTCCAACTCAGACACGTTTGGGAGCCCCATCCACTGCATCTCCACGGCTGGCGTCCTCCTTAGCAGCCACATGGACCAGAAAGATGACCACCAGTCATCCAGTGGCAACTGGAGTGGGAGCAGCTCCACGTGC... | pathogenic | 330,150 |
Clinically, how would you classify the variant at chromosome X, position 18510818, gene CDKL5 (cyclin dependent kinase like 5): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | GTATTTTTGGCTAGGATATACATATAAAGTATATAACAATCTGTCACCAGGAACGGTGACTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGTGGATCACAAGGTCAAGAGATCCAGACCATCTTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGTGGAGGTTGCAGTGAGTGAGCTTGTGCCACTGCACTCCAGCCTGATGAGAGAGCGAGACTGTCTCA... | GTATTTTTGGCTAGGATATACATATAAAGTATATAACAATCTGTCACCAGGAACGGTGACTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGTGGATCACAAGGTCAAGAGATCCAGACCATCTTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGTGGAGGTTGCAGTGAGTGAGCTTGTGCCACTGCACTCCAGCCTGATGAGAGAGCGAGACTGTCTCA... | pathogenic | 330,192 |
Gene mutation in CDKL5 (cyclin dependent kinase like 5) at chromosome X, position 18564526—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CTACCATTTGAGAAAAATTTACTGGAAGAAAATATACCAAAATATTAACAAGGGTTAATTTTGTAAATGTCTTCTCTATATCCTTTTTGTACCCTTTGTATTCTTTTTGTGTTTTCTGTAATGAGTTTATATTATTTTTATAAGCAGTTTGAATACATGTGAAATGTTAAATTCTTTCCAGTATCTTCTCTTAATTGCATGTGTTTTTCACTAAACACTGAATTGGTTTAATGTAGAAAACTTCATCTGTTCGATTTCATTCTTTAAGTAAATACATAAACCATATCGGGGGAGGCAGAGAAAGTGAGTTTTGAGGAGAG... | CTACCATTTGAGAAAAATTTACTGGAAGAAAATATACCAAAATATTAACAAGGGTTAATTTTGTAAATGTCTTCTCTATATCCTTTTTGTACCCTTTGTATTCTTTTTGTGTTTTCTGTAATGAGTTTATATTATTTTTATAAGCAGTTTGAATACATGTGAAATGTTAAATTCTTTCCAGTATCTTCTCTTAATTGCATGTGTTTTTCACTAAACACTGAATTGGTTTAATGTAGAAAACTTCATCTGTTCGATTTCATTCTTTAAGTAAATACATAAACCATATCGGGGGAGGCAGAGAAAGTGAGTTTTGAGGAGAG... | benign | 330,205 |
Variant at chromosome position 18564526, chromosome X, gene CDKL5 (cyclin dependent kinase like 5): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CTACCATTTGAGAAAAATTTACTGGAAGAAAATATACCAAAATATTAACAAGGGTTAATTTTGTAAATGTCTTCTCTATATCCTTTTTGTACCCTTTGTATTCTTTTTGTGTTTTCTGTAATGAGTTTATATTATTTTTATAAGCAGTTTGAATACATGTGAAATGTTAAATTCTTTCCAGTATCTTCTCTTAATTGCATGTGTTTTTCACTAAACACTGAATTGGTTTAATGTAGAAAACTTCATCTGTTCGATTTCATTCTTTAAGTAAATACATAAACCATATCGGGGGAGGCAGAGAAAGTGAGTTTTGAGGAGAG... | CTACCATTTGAGAAAAATTTACTGGAAGAAAATATACCAAAATATTAACAAGGGTTAATTTTGTAAATGTCTTCTCTATATCCTTTTTGTACCCTTTGTATTCTTTTTGTGTTTTCTGTAATGAGTTTATATTATTTTTATAAGCAGTTTGAATACATGTGAAATGTTAAATTCTTTCCAGTATCTTCTCTTAATTGCATGTGTTTTTCACTAAACACTGAATTGGTTTAATGTAGAAAACTTCATCTGTTCGATTTCATTCTTTAAGTAAATACATAAACCATATCGGGGGAGGCAGAGAAAGTGAGTTTTGAGGAGAG... | benign | 330,206 |
Is the genetic mutation found on chromosome X at position 18564526, within the gene CDKL5 (cyclin dependent kinase like 5), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CTACCATTTGAGAAAAATTTACTGGAAGAAAATATACCAAAATATTAACAAGGGTTAATTTTGTAAATGTCTTCTCTATATCCTTTTTGTACCCTTTGTATTCTTTTTGTGTTTTCTGTAATGAGTTTATATTATTTTTATAAGCAGTTTGAATACATGTGAAATGTTAAATTCTTTCCAGTATCTTCTCTTAATTGCATGTGTTTTTCACTAAACACTGAATTGGTTTAATGTAGAAAACTTCATCTGTTCGATTTCATTCTTTAAGTAAATACATAAACCATATCGGGGGAGGCAGAGAAAGTGAGTTTTGAGGAGAG... | CTACCATTTGAGAAAAATTTACTGGAAGAAAATATACCAAAATATTAACAAGGGTTAATTTTGTAAATGTCTTCTCTATATCCTTTTTGTACCCTTTGTATTCTTTTTGTGTTTTCTGTAATGAGTTTATATTATTTTTATAAGCAGTTTGAATACATGTGAAATGTTAAATTCTTTCCAGTATCTTCTCTTAATTGCATGTGTTTTTCACTAAACACTGAATTGGTTTAATGTAGAAAACTTCATCTGTTCGATTTCATTCTTTAAGTAAATACATAAACCATATCGGGGGAGGCAGAGAAAGTGAGTTTTGAGGAGAG... | benign | 330,207 |
Considering the variant on chromosome X, location 18575367, involving gene CDKL5 (cyclin dependent kinase like 5), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Angelman_syndrome-like', 'Atypical_Rett_syndrome', 'CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | TAGTTTGATTACCCCAACCTTGAGTAACTCAGAGGGGATATTAGAGAAGCATGTTCTCGATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTG... | TAGTTTGATTACCCCAACCTTGAGTAACTCAGAGGGGATATTAGAGAAGCATGTTCTCGATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTG... | pathogenic | 330,212 |
Variant in CDKL5 (cyclin dependent kinase like 5), chromosome X, position 18575404—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Angelman_syndrome-like', 'CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | ATATTAGAGAAGCATGTTCTCGATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTT... | ATATTAGAGAAGCATGTTCTCGATCTTGCTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTT... | pathogenic | 330,218 |
The mutation in gene CDKL5 (cyclin dependent kinase like 5) at chromosome X, position 18575432—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Angelman_syndrome-like', 'CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | CTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTTTCCTACTGCTGGTTCTTGTCTTCTCATA... | CTTCTTTAGGAAACTGCCGGTGTTCCTGTGCTTCAGCAGCTGCAGCTACCTTAGCATTCTAACAGTCACAGAACACCACTGTTCTGGCTCACCCCCAACTTGCAGAACACCTGGACCTTTGTCCCCTCCCAATGCTCTAAGCTACTTTGGGATGTCCCCGATTGCATCTCAGACATTCCCCCACTGCCAGGTGACATCCACTGTCATGCTCTTTTCCCTGTAAGTACCCAGTTCCCTGTTGACTGCCTTGGTGTGATCCAGGTAATTCGCTGCTTATGCCACAGTTGGCCTTTCCTACTGCTGGTTCTTGTCTTCTCATA... | pathogenic | 330,220 |
Variant at chromosome X, position 18579913, gene CDKL5 (cyclin dependent kinase like 5): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['CDKL5_disorder', 'Developmental_and_epileptic_encephalopathy,_2'] | TCTATGAATTTGTTAATTGAAAAAGAGAATTCAAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTT... | TCTATGAATTTGTTAATTGAAAAAGAGAATTCAAATGGAGAATCAAAAAATGATGCATACATACTTAAAATGTTTATTTTAATTGGAAACATAAATACTGTATGTATTCATTTACCACGCTATAAAGGTAGGGTCAAGGCCTTTTGCCTATCGCTCTTCTGAAGTTCTGATTGGTCTTTTTTACATACATCATACTCGTAATGCATCTTTAAGGTAAAGCAAATGTGCAAAAACATCTGCAAAGGAATCTCAGTGCAGAATCCTTCAATTGGACATGCTTATCCCCACTAGCACCCATTCCTTGCCAGTGTTTTGTAGTT... | pathogenic | 330,228 |
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