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 |
|---|---|---|---|---|---|
A genetic alteration at chromosome 13, position 23334484, in gene SACS (sacsin molecular chaperone)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | TTATGACTACCTCCTCAGGCTTCAGAAGTTTCCAACCATCTTCTACCATCACAAAAGCAACCCCTCGCAACTGAAAACGAAATTCCCTTTTTTCTGCACTGAGGAATTCATATATGCTCCTTAAGACTTTTGCTCTAGTTTTTACCATTTCTTCATCCAACGTCGTTATGTTGCATATGTTTCTGCAGTTATTGATTACCTTATCAAGAGGAGGATCCAGGTTAACATTAAGCATATTTAAAACTTGTTCAAGCTGTTCTTGTGGACCAAGGTCACTACCTTCTTGTTCTTTAATGCTTAAGGGTGTAGCTTTCTCTGGA... | TTATGACTACCTCCTCAGGCTTCAGAAGTTTCCAACCATCTTCTACCATCACAAAAGCAACCCCTCGCAACTGAAAACGAAATTCCCTTTTTTCTGCACTGAGGAATTCATATATGCTCCTTAAGACTTTTGCTCTAGTTTTTACCATTTCTTCATCCAACGTCGTTATGTTGCATATGTTTCTGCAGTTATTGATTACCTTATCAAGAGGAGGATCCAGGTTAACATTAAGCATATTTAAAACTTGTTCAAGCTGTTCTTGTGGACCAAGGTCACTACCTTCTTGTTCTTTAATGCTTAAGGGTGTAGCTTTCTCTGGA... | pathogenic | 207,160 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 23334609, gene SACS (sacsin molecular chaperone). What disease(s) is it linked to if pathogenic? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | ACTTTTGCTCTAGTTTTTACCATTTCTTCATCCAACGTCGTTATGTTGCATATGTTTCTGCAGTTATTGATTACCTTATCAAGAGGAGGATCCAGGTTAACATTAAGCATATTTAAAACTTGTTCAAGCTGTTCTTGTGGACCAAGGTCACTACCTTCTTGTTCTTTAATGCTTAAGGGTGTAGCTTTCTCTGGAAGAATAGGGCAGGATGTCCATAACAGCTGGAGTACATCACATTGCTTGAATTTTGGATTTACCTGTGCTCCATTGAACTTTATAAGAGGAAGTGTTCCATTTACCTCTTGATATTGAGGATGAAA... | ACTTTTGCTCTAGTTTTTACCATTTCTTCATCCAACGTCGTTATGTTGCATATGTTTCTGCAGTTATTGATTACCTTATCAAGAGGAGGATCCAGGTTAACATTAAGCATATTTAAAACTTGTTCAAGCTGTTCTTGTGGACCAAGGTCACTACCTTCTTGTTCTTTAATGCTTAAGGGTGTAGCTTTCTCTGGAAGAATAGGGCAGGATGTCCATAACAGCTGGAGTACATCACATTGCTTGAATTTTGGATTTACCTGTGCTCCATTGAACTTTATAAGAGGAAGTGTTCCATTTACCTCTTGATATTGAGGATGAAA... | pathogenic | 207,164 |
Mutation at chromosome 13, position 23334655, within SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TGCATATGTTTCTGCAGTTATTGATTACCTTATCAAGAGGAGGATCCAGGTTAACATTAAGCATATTTAAAACTTGTTCAAGCTGTTCTTGTGGACCAAGGTCACTACCTTCTTGTTCTTTAATGCTTAAGGGTGTAGCTTTCTCTGGAAGAATAGGGCAGGATGTCCATAACAGCTGGAGTACATCACATTGCTTGAATTTTGGATTTACCTGTGCTCCATTGAACTTTATAAGAGGAAGTGTTCCATTTACCTCTTGATATTGAGGATGAAATCTAATGAATTCCGCGGGGGCCCGCTCAGGACATAAGAATGGTATT... | TGCATATGTTTCTGCAGTTATTGATTACCTTATCAAGAGGAGGATCCAGGTTAACATTAAGCATATTTAAAACTTGTTCAAGCTGTTCTTGTGGACCAAGGTCACTACCTTCTTGTTCTTTAATGCTTAAGGGTGTAGCTTTCTCTGGAAGAATAGGGCAGGATGTCCATAACAGCTGGAGTACATCACATTGCTTGAATTTTGGATTTACCTGTGCTCCATTGAACTTTATAAGAGGAAGTGTTCCATTTACCTCTTGATATTGAGGATGAAATCTAATGAATTCCGCGGGGGCCCGCTCAGGACATAAGAATGGTATT... | pathogenic | 207,165 |
Clinical significance of chromosome 13, position 23334756, gene SACS (sacsin molecular chaperone): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Hereditary_spastic_paraplegia', 'Spastic_paraplegia'] | TCACTACCTTCTTGTTCTTTAATGCTTAAGGGTGTAGCTTTCTCTGGAAGAATAGGGCAGGATGTCCATAACAGCTGGAGTACATCACATTGCTTGAATTTTGGATTTACCTGTGCTCCATTGAACTTTATAAGAGGAAGTGTTCCATTTACCTCTTGATATTGAGGATGAAATCTAATGAATTCCGCGGGGGCCCGCTCAGGACATAAGAATGGTATTAAAGATAGTTCTTTCAGAAAATTTCCAGATAACAAATCCATTCGTTCTTGGAATATATGATGCAGAAGGATATCAACTGTATTTTGCAATGTTTCTTTGGA... | TCACTACCTTCTTGTTCTTTAATGCTTAAGGGTGTAGCTTTCTCTGGAAGAATAGGGCAGGATGTCCATAACAGCTGGAGTACATCACATTGCTTGAATTTTGGATTTACCTGTGCTCCATTGAACTTTATAAGAGGAAGTGTTCCATTTACCTCTTGATATTGAGGATGAAATCTAATGAATTCCGCGGGGGCCCGCTCAGGACATAAGAATGGTATTAAAGATAGTTCTTTCAGAAAATTTCCAGATAACAAATCCATTCGTTCTTGGAATATATGATGCAGAAGGATATCAACTGTATTTTGCAATGTTTCTTTGGA... | pathogenic | 207,166 |
Clinical classification of chromosome 13, position 23334786, gene SACS (sacsin molecular chaperone): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | GGTGTAGCTTTCTCTGGAAGAATAGGGCAGGATGTCCATAACAGCTGGAGTACATCACATTGCTTGAATTTTGGATTTACCTGTGCTCCATTGAACTTTATAAGAGGAAGTGTTCCATTTACCTCTTGATATTGAGGATGAAATCTAATGAATTCCGCGGGGGCCCGCTCAGGACATAAGAATGGTATTAAAGATAGTTCTTTCAGAAAATTTCCAGATAACAAATCCATTCGTTCTTGGAATATATGATGCAGAAGGATATCAACTGTATTTTGCAATGTTTCTTTGGACCAGTTTTCTGTATTAGCCCTCACACTGAT... | GGTGTAGCTTTCTCTGGAAGAATAGGGCAGGATGTCCATAACAGCTGGAGTACATCACATTGCTTGAATTTTGGATTTACCTGTGCTCCATTGAACTTTATAAGAGGAAGTGTTCCATTTACCTCTTGATATTGAGGATGAAATCTAATGAATTCCGCGGGGGCCCGCTCAGGACATAAGAATGGTATTAAAGATAGTTCTTTCAGAAAATTTCCAGATAACAAATCCATTCGTTCTTGGAATATATGATGCAGAAGGATATCAACTGTATTTTGCAATGTTTCTTTGGACCAGTTTTCTGTATTAGCCCTCACACTGAT... | pathogenic | 207,169 |
Chromosome 13, position 23334794, gene SACS (sacsin molecular chaperone): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_spastic_paraplegia'] | TTTCTCTGGAAGAATAGGGCAGGATGTCCATAACAGCTGGAGTACATCACATTGCTTGAATTTTGGATTTACCTGTGCTCCATTGAACTTTATAAGAGGAAGTGTTCCATTTACCTCTTGATATTGAGGATGAAATCTAATGAATTCCGCGGGGGCCCGCTCAGGACATAAGAATGGTATTAAAGATAGTTCTTTCAGAAAATTTCCAGATAACAAATCCATTCGTTCTTGGAATATATGATGCAGAAGGATATCAACTGTATTTTGCAATGTTTCTTTGGACCAGTTTTCTGTATTAGCCCTCACACTGATTTCCTTAG... | TTTCTCTGGAAGAATAGGGCAGGATGTCCATAACAGCTGGAGTACATCACATTGCTTGAATTTTGGATTTACCTGTGCTCCATTGAACTTTATAAGAGGAAGTGTTCCATTTACCTCTTGATATTGAGGATGAAATCTAATGAATTCCGCGGGGGCCCGCTCAGGACATAAGAATGGTATTAAAGATAGTTCTTTCAGAAAATTTCCAGATAACAAATCCATTCGTTCTTGGAATATATGATGCAGAAGGATATCAACTGTATTTTGCAATGTTTCTTTGGACCAGTTTTCTGTATTAGCCCTCACACTGATTTCCTTAG... | pathogenic | 207,170 |
Assess the variant on chromosome 13, position 23335031, impacting SACS (sacsin molecular chaperone): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Hereditary_spastic_paraplegia', 'SACS-related_disorder', 'Spastic_paraplegia'] | ATGATGCAGAAGGATATCAACTGTATTTTGCAATGTTTCTTTGGACCAGTTTTCTGTATTAGCCCTCACACTGATTTCCTTAGCAAACTGTAACAACTGCTGCTGAGAAAGTATGTATTTTAGTCCAATATTTCTTAAGAATTCCACCCAGGATGTCATAAATGTAACATGATTTTTGGGTTTTATAAGTTGTTCCAATTTCTTAAAGAAATCATTAGGAATAAACAATTTTTCAGGAAGCATAACTTCAAAAACTCTCACAGTTCTATCATAGAAATGCTTTGCTTGCTTTAGTCTACTGTTAGCATCATGGATTATCA... | ATGATGCAGAAGGATATCAACTGTATTTTGCAATGTTTCTTTGGACCAGTTTTCTGTATTAGCCCTCACACTGATTTCCTTAGCAAACTGTAACAACTGCTGCTGAGAAAGTATGTATTTTAGTCCAATATTTCTTAAGAATTCCACCCAGGATGTCATAAATGTAACATGATTTTTGGGTTTTATAAGTTGTTCCAATTTCTTAAAGAAATCATTAGGAATAAACAATTTTTCAGGAAGCATAACTTCAAAAACTCTCACAGTTCTATCATAGAAATGCTTTGCTTGCTTTAGTCTACTGTTAGCATCATGGATTATCA... | pathogenic | 207,173 |
Does the chromosome 13 mutation at position 23335068 within gene SACS (sacsin molecular chaperone) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TCTTTGGACCAGTTTTCTGTATTAGCCCTCACACTGATTTCCTTAGCAAACTGTAACAACTGCTGCTGAGAAAGTATGTATTTTAGTCCAATATTTCTTAAGAATTCCACCCAGGATGTCATAAATGTAACATGATTTTTGGGTTTTATAAGTTGTTCCAATTTCTTAAAGAAATCATTAGGAATAAACAATTTTTCAGGAAGCATAACTTCAAAAACTCTCACAGTTCTATCATAGAAATGCTTTGCTTGCTTTAGTCTACTGTTAGCATCATGGATTATCAATAAACTTTCCAGTTTTTCAAAAAGTTGTTCCTTAAT... | TCTTTGGACCAGTTTTCTGTATTAGCCCTCACACTGATTTCCTTAGCAAACTGTAACAACTGCTGCTGAGAAAGTATGTATTTTAGTCCAATATTTCTTAAGAATTCCACCCAGGATGTCATAAATGTAACATGATTTTTGGGTTTTATAAGTTGTTCCAATTTCTTAAAGAAATCATTAGGAATAAACAATTTTTCAGGAAGCATAACTTCAAAAACTCTCACAGTTCTATCATAGAAATGCTTTGCTTGCTTTAGTCTACTGTTAGCATCATGGATTATCAATAAACTTTCCAGTTTTTCAAAAAGTTGTTCCTTAAT... | pathogenic | 207,174 |
Chromosome 13, position 23335082, gene SACS (sacsin molecular chaperone): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Hereditary_spastic_paraplegia', 'Spastic_paraplegia'] | TTCTGTATTAGCCCTCACACTGATTTCCTTAGCAAACTGTAACAACTGCTGCTGAGAAAGTATGTATTTTAGTCCAATATTTCTTAAGAATTCCACCCAGGATGTCATAAATGTAACATGATTTTTGGGTTTTATAAGTTGTTCCAATTTCTTAAAGAAATCATTAGGAATAAACAATTTTTCAGGAAGCATAACTTCAAAAACTCTCACAGTTCTATCATAGAAATGCTTTGCTTGCTTTAGTCTACTGTTAGCATCATGGATTATCAATAAACTTTCCAGTTTTTCAAAAAGTTGTTCCTTAATCTCTGATAATTCCT... | TTCTGTATTAGCCCTCACACTGATTTCCTTAGCAAACTGTAACAACTGCTGCTGAGAAAGTATGTATTTTAGTCCAATATTTCTTAAGAATTCCACCCAGGATGTCATAAATGTAACATGATTTTTGGGTTTTATAAGTTGTTCCAATTTCTTAAAGAAATCATTAGGAATAAACAATTTTTCAGGAAGCATAACTTCAAAAACTCTCACAGTTCTATCATAGAAATGCTTTGCTTGCTTTAGTCTACTGTTAGCATCATGGATTATCAATAAACTTTCCAGTTTTTCAAAAAGTTGTTCCTTAATCTCTGATAATTCCT... | pathogenic | 207,175 |
Located at chromosome 13 position 23335082, the variant affecting gene SACS (sacsin molecular chaperone)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TTCTGTATTAGCCCTCACACTGATTTCCTTAGCAAACTGTAACAACTGCTGCTGAGAAAGTATGTATTTTAGTCCAATATTTCTTAAGAATTCCACCCAGGATGTCATAAATGTAACATGATTTTTGGGTTTTATAAGTTGTTCCAATTTCTTAAAGAAATCATTAGGAATAAACAATTTTTCAGGAAGCATAACTTCAAAAACTCTCACAGTTCTATCATAGAAATGCTTTGCTTGCTTTAGTCTACTGTTAGCATCATGGATTATCAATAAACTTTCCAGTTTTTCAAAAAGTTGTTCCTTAATCTCTGATAATTCCT... | TTCTGTATTAGCCCTCACACTGATTTCCTTAGCAAACTGTAACAACTGCTGCTGAGAAAGTATGTATTTTAGTCCAATATTTCTTAAGAATTCCACCCAGGATGTCATAAATGTAACATGATTTTTGGGTTTTATAAGTTGTTCCAATTTCTTAAAGAAATCATTAGGAATAAACAATTTTTCAGGAAGCATAACTTCAAAAACTCTCACAGTTCTATCATAGAAATGCTTTGCTTGCTTTAGTCTACTGTTAGCATCATGGATTATCAATAAACTTTCCAGTTTTTCAAAAAGTTGTTCCTTAATCTCTGATAATTCCT... | pathogenic | 207,176 |
Evaluate this variant at chromosome 13, position 23335251, gene SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | ATAAACAATTTTTCAGGAAGCATAACTTCAAAAACTCTCACAGTTCTATCATAGAAATGCTTTGCTTGCTTTAGTCTACTGTTAGCATCATGGATTATCAATAAACTTTCCAGTTTTTCAAAAAGTTGTTCCTTAATCTCTGATAATTCCTCAGCACTTGATAATCTATTCTTAAGGTAGATCAAGTGCTCTAATTTTGCATCATAAGAGAGATTTTCAATTTTTGGTAAGAGGTGTTTCAAATATACCTCAAGATCATCTACAGGTACACAACCAATCACCTCATATAGTTCTTTTAAGTGTATTTTTTCTTCAAGAAA... | ATAAACAATTTTTCAGGAAGCATAACTTCAAAAACTCTCACAGTTCTATCATAGAAATGCTTTGCTTGCTTTAGTCTACTGTTAGCATCATGGATTATCAATAAACTTTCCAGTTTTTCAAAAAGTTGTTCCTTAATCTCTGATAATTCCTCAGCACTTGATAATCTATTCTTAAGGTAGATCAAGTGCTCTAATTTTGCATCATAAGAGAGATTTTCAATTTTTGGTAAGAGGTGTTTCAAATATACCTCAAGATCATCTACAGGTACACAACCAATCACCTCATATAGTTCTTTTAAGTGTATTTTTTCTTCAAGAAA... | pathogenic | 207,179 |
Clinical classification of chromosome 13, position 23335286, gene SACS (sacsin molecular chaperone): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | TCTCACAGTTCTATCATAGAAATGCTTTGCTTGCTTTAGTCTACTGTTAGCATCATGGATTATCAATAAACTTTCCAGTTTTTCAAAAAGTTGTTCCTTAATCTCTGATAATTCCTCAGCACTTGATAATCTATTCTTAAGGTAGATCAAGTGCTCTAATTTTGCATCATAAGAGAGATTTTCAATTTTTGGTAAGAGGTGTTTCAAATATACCTCAAGATCATCTACAGGTACACAACCAATCACCTCATATAGTTCTTTTAAGTGTATTTTTTCTTCAAGAAATGCAGATGATGATGACTGTGTCCATTTCTCCACTT... | TCTCACAGTTCTATCATAGAAATGCTTTGCTTGCTTTAGTCTACTGTTAGCATCATGGATTATCAATAAACTTTCCAGTTTTTCAAAAAGTTGTTCCTTAATCTCTGATAATTCCTCAGCACTTGATAATCTATTCTTAAGGTAGATCAAGTGCTCTAATTTTGCATCATAAGAGAGATTTTCAATTTTTGGTAAGAGGTGTTTCAAATATACCTCAAGATCATCTACAGGTACACAACCAATCACCTCATATAGTTCTTTTAAGTGTATTTTTTCTTCAAGAAATGCAGATGATGATGACTGTGTCCATTTCTCCACTT... | pathogenic | 207,180 |
Regarding the variant found on chromosome 13 at position 23335298 in gene SACS (sacsin molecular chaperone): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | ATCATAGAAATGCTTTGCTTGCTTTAGTCTACTGTTAGCATCATGGATTATCAATAAACTTTCCAGTTTTTCAAAAAGTTGTTCCTTAATCTCTGATAATTCCTCAGCACTTGATAATCTATTCTTAAGGTAGATCAAGTGCTCTAATTTTGCATCATAAGAGAGATTTTCAATTTTTGGTAAGAGGTGTTTCAAATATACCTCAAGATCATCTACAGGTACACAACCAATCACCTCATATAGTTCTTTTAAGTGTATTTTTTCTTCAAGAAATGCAGATGATGATGACTGTGTCCATTTCTCCACTTCAGCTGAAGGGA... | ATCATAGAAATGCTTTGCTTGCTTTAGTCTACTGTTAGCATCATGGATTATCAATAAACTTTCCAGTTTTTCAAAAAGTTGTTCCTTAATCTCTGATAATTCCTCAGCACTTGATAATCTATTCTTAAGGTAGATCAAGTGCTCTAATTTTGCATCATAAGAGAGATTTTCAATTTTTGGTAAGAGGTGTTTCAAATATACCTCAAGATCATCTACAGGTACACAACCAATCACCTCATATAGTTCTTTTAAGTGTATTTTTTCTTCAAGAAATGCAGATGATGATGACTGTGTCCATTTCTCCACTTCAGCTGAAGGGA... | pathogenic | 207,182 |
A genetic variant at chromosome 13, position 23335332, affecting gene SACS (sacsin molecular chaperone)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_recessive_spastic_ataxia', 'Charlevoix-Saguenay_spastic_ataxia'] | TTAGCATCATGGATTATCAATAAACTTTCCAGTTTTTCAAAAAGTTGTTCCTTAATCTCTGATAATTCCTCAGCACTTGATAATCTATTCTTAAGGTAGATCAAGTGCTCTAATTTTGCATCATAAGAGAGATTTTCAATTTTTGGTAAGAGGTGTTTCAAATATACCTCAAGATCATCTACAGGTACACAACCAATCACCTCATATAGTTCTTTTAAGTGTATTTTTTCTTCAAGAAATGCAGATGATGATGACTGTGTCCATTTCTCCACTTCAGCTGAAGGGATACTTTTTGTAAGTACGTAGCATGTTCCAAATTT... | TTAGCATCATGGATTATCAATAAACTTTCCAGTTTTTCAAAAAGTTGTTCCTTAATCTCTGATAATTCCTCAGCACTTGATAATCTATTCTTAAGGTAGATCAAGTGCTCTAATTTTGCATCATAAGAGAGATTTTCAATTTTTGGTAAGAGGTGTTTCAAATATACCTCAAGATCATCTACAGGTACACAACCAATCACCTCATATAGTTCTTTTAAGTGTATTTTTTCTTCAAGAAATGCAGATGATGATGACTGTGTCCATTTCTCCACTTCAGCTGAAGGGATACTTTTTGTAAGTACGTAGCATGTTCCAAATTT... | pathogenic | 207,183 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 23335490, gene SACS (sacsin molecular chaperone). What disease(s) is it linked to if pathogenic? | pathogenic; ['Spastic_paraplegia'] | CAAATATACCTCAAGATCATCTACAGGTACACAACCAATCACCTCATATAGTTCTTTTAAGTGTATTTTTTCTTCAAGAAATGCAGATGATGATGACTGTGTCCATTTCTCCACTTCAGCTGAAGGGATACTTTTTGTAAGTACGTAGCATGTTCCAAATTTTCCAATGCTTACATAGCGGCCACTGATGGATTTATAGCACGGAAGTGACTTTAGAATTTTTATATCATCTTGGGACATCAAATGATTCAAATTGCAGTTGAAATACATCAAAAGTGCCTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTG... | CAAATATACCTCAAGATCATCTACAGGTACACAACCAATCACCTCATATAGTTCTTTTAAGTGTATTTTTTCTTCAAGAAATGCAGATGATGATGACTGTGTCCATTTCTCCACTTCAGCTGAAGGGATACTTTTTGTAAGTACGTAGCATGTTCCAAATTTTCCAATGCTTACATAGCGGCCACTGATGGATTTATAGCACGGAAGTGACTTTAGAATTTTTATATCATCTTGGGACATCAAATGATTCAAATTGCAGTTGAAATACATCAAAAGTGCCTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTG... | pathogenic | 207,186 |
Considering the genetic mutation at chromosome 13, position 23335531, impacting SACS (sacsin molecular chaperone): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CCTCATATAGTTCTTTTAAGTGTATTTTTTCTTCAAGAAATGCAGATGATGATGACTGTGTCCATTTCTCCACTTCAGCTGAAGGGATACTTTTTGTAAGTACGTAGCATGTTCCAAATTTTCCAATGCTTACATAGCGGCCACTGATGGATTTATAGCACGGAAGTGACTTTAGAATTTTTATATCATCTTGGGACATCAAATGATTCAAATTGCAGTTGAAATACATCAAAAGTGCCTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTGAAGTTTGGACCATATAATGTAGAGCCTTCAAGATGCTTGTG... | CCTCATATAGTTCTTTTAAGTGTATTTTTTCTTCAAGAAATGCAGATGATGATGACTGTGTCCATTTCTCCACTTCAGCTGAAGGGATACTTTTTGTAAGTACGTAGCATGTTCCAAATTTTCCAATGCTTACATAGCGGCCACTGATGGATTTATAGCACGGAAGTGACTTTAGAATTTTTATATCATCTTGGGACATCAAATGATTCAAATTGCAGTTGAAATACATCAAAAGTGCCTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTGAAGTTTGGACCATATAATGTAGAGCCTTCAAGATGCTTGTG... | benign | 207,189 |
Does the variant on chromosome 13 at location 23335535 affecting gene SACS (sacsin molecular chaperone) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | ATATAGTTCTTTTAAGTGTATTTTTTCTTCAAGAAATGCAGATGATGATGACTGTGTCCATTTCTCCACTTCAGCTGAAGGGATACTTTTTGTAAGTACGTAGCATGTTCCAAATTTTCCAATGCTTACATAGCGGCCACTGATGGATTTATAGCACGGAAGTGACTTTAGAATTTTTATATCATCTTGGGACATCAAATGATTCAAATTGCAGTTGAAATACATCAAAAGTGCCTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTGAAGTTTGGACCATATAATGTAGAGCCTTCAAGATGCTTGTGGGGC... | ATATAGTTCTTTTAAGTGTATTTTTTCTTCAAGAAATGCAGATGATGATGACTGTGTCCATTTCTCCACTTCAGCTGAAGGGATACTTTTTGTAAGTACGTAGCATGTTCCAAATTTTCCAATGCTTACATAGCGGCCACTGATGGATTTATAGCACGGAAGTGACTTTAGAATTTTTATATCATCTTGGGACATCAAATGATTCAAATTGCAGTTGAAATACATCAAAAGTGCCTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTGAAGTTTGGACCATATAATGTAGAGCCTTCAAGATGCTTGTGGGGC... | pathogenic | 207,191 |
Evaluate the clinical significance of the mutation at chromosome 13, position 23335596 in gene SACS (sacsin molecular chaperone): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TTCTCCACTTCAGCTGAAGGGATACTTTTTGTAAGTACGTAGCATGTTCCAAATTTTCCAATGCTTACATAGCGGCCACTGATGGATTTATAGCACGGAAGTGACTTTAGAATTTTTATATCATCTTGGGACATCAAATGATTCAAATTGCAGTTGAAATACATCAAAAGTGCCTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTGAAGTTTGGACCATATAATGTAGAGCCTTCAAGATGCTTGTGGGGCTCTCTATATTTGCTGTGTGACATGACAACAAAGGAACAAATGCACTGTCTTTGGAACAGAT... | TTCTCCACTTCAGCTGAAGGGATACTTTTTGTAAGTACGTAGCATGTTCCAAATTTTCCAATGCTTACATAGCGGCCACTGATGGATTTATAGCACGGAAGTGACTTTAGAATTTTTATATCATCTTGGGACATCAAATGATTCAAATTGCAGTTGAAATACATCAAAAGTGCCTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTGAAGTTTGGACCATATAATGTAGAGCCTTCAAGATGCTTGTGGGGCTCTCTATATTTGCTGTGTGACATGACAACAAAGGAACAAATGCACTGTCTTTGGAACAGAT... | pathogenic | 207,192 |
Determine if the mutation at chromosome 13, position 23335614 in gene SACS (sacsin molecular chaperone) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | GGGATACTTTTTGTAAGTACGTAGCATGTTCCAAATTTTCCAATGCTTACATAGCGGCCACTGATGGATTTATAGCACGGAAGTGACTTTAGAATTTTTATATCATCTTGGGACATCAAATGATTCAAATTGCAGTTGAAATACATCAAAAGTGCCTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTGAAGTTTGGACCATATAATGTAGAGCCTTCAAGATGCTTGTGGGGCTCTCTATATTTGCTGTGTGACATGACAACAAAGGAACAAATGCACTGTCTTTGGAACAGATTTTGTTCAAAGCAAGCTG... | GGGATACTTTTTGTAAGTACGTAGCATGTTCCAAATTTTCCAATGCTTACATAGCGGCCACTGATGGATTTATAGCACGGAAGTGACTTTAGAATTTTTATATCATCTTGGGACATCAAATGATTCAAATTGCAGTTGAAATACATCAAAAGTGCCTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTGAAGTTTGGACCATATAATGTAGAGCCTTCAAGATGCTTGTGGGGCTCTCTATATTTGCTGTGTGACATGACAACAAAGGAACAAATGCACTGTCTTTGGAACAGATTTTGTTCAAAGCAAGCTG... | pathogenic | 207,193 |
Does the variant on chromosome 13 at location 23335636 affecting gene SACS (sacsin molecular chaperone) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Spastic_paraplegia'] | AGCATGTTCCAAATTTTCCAATGCTTACATAGCGGCCACTGATGGATTTATAGCACGGAAGTGACTTTAGAATTTTTATATCATCTTGGGACATCAAATGATTCAAATTGCAGTTGAAATACATCAAAAGTGCCTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTGAAGTTTGGACCATATAATGTAGAGCCTTCAAGATGCTTGTGGGGCTCTCTATATTTGCTGTGTGACATGACAACAAAGGAACAAATGCACTGTCTTTGGAACAGATTTTGTTCAAAGCAAGCTGAATACAGCCAGCTTTCATTAGA... | AGCATGTTCCAAATTTTCCAATGCTTACATAGCGGCCACTGATGGATTTATAGCACGGAAGTGACTTTAGAATTTTTATATCATCTTGGGACATCAAATGATTCAAATTGCAGTTGAAATACATCAAAAGTGCCTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTGAAGTTTGGACCATATAATGTAGAGCCTTCAAGATGCTTGTGGGGCTCTCTATATTTGCTGTGTGACATGACAACAAAGGAACAAATGCACTGTCTTTGGAACAGATTTTGTTCAAAGCAAGCTGAATACAGCCAGCTTTCATTAGA... | pathogenic | 207,194 |
Mutation found at chromosome 13 position 23335648, gene SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | ATTTTCCAATGCTTACATAGCGGCCACTGATGGATTTATAGCACGGAAGTGACTTTAGAATTTTTATATCATCTTGGGACATCAAATGATTCAAATTGCAGTTGAAATACATCAAAAGTGCCTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTGAAGTTTGGACCATATAATGTAGAGCCTTCAAGATGCTTGTGGGGCTCTCTATATTTGCTGTGTGACATGACAACAAAGGAACAAATGCACTGTCTTTGGAACAGATTTTGTTCAAAGCAAGCTGAATACAGCCAGCTTTCATTAGAGCATGAAAAACT... | ATTTTCCAATGCTTACATAGCGGCCACTGATGGATTTATAGCACGGAAGTGACTTTAGAATTTTTATATCATCTTGGGACATCAAATGATTCAAATTGCAGTTGAAATACATCAAAAGTGCCTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTGAAGTTTGGACCATATAATGTAGAGCCTTCAAGATGCTTGTGGGGCTCTCTATATTTGCTGTGTGACATGACAACAAAGGAACAAATGCACTGTCTTTGGAACAGATTTTGTTCAAAGCAAGCTGAATACAGCCAGCTTTCATTAGAGCATGAAAAACT... | pathogenic | 207,195 |
Gene SACS (sacsin molecular chaperone) variant at chromosome position 23335727 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | CATCAAATGATTCAAATTGCAGTTGAAATACATCAAAAGTGCCTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTGAAGTTTGGACCATATAATGTAGAGCCTTCAAGATGCTTGTGGGGCTCTCTATATTTGCTGTGTGACATGACAACAAAGGAACAAATGCACTGTCTTTGGAACAGATTTTGTTCAAAGCAAGCTGAATACAGCCAGCTTTCATTAGAGCATGAAAAACTTTATCACTCTGGGCATTTGGAAAAACTGCAATGTGCATAAGGCTGAGAGGAAGCAGAACATCTCCTTCAGGAACCACAA... | CATCAAATGATTCAAATTGCAGTTGAAATACATCAAAAGTGCCTCAAAATCATTTTCTACTAATTTTTCTGCTCTAAATGTTGAAGTTTGGACCATATAATGTAGAGCCTTCAAGATGCTTGTGGGGCTCTCTATATTTGCTGTGTGACATGACAACAAAGGAACAAATGCACTGTCTTTGGAACAGATTTTGTTCAAAGCAAGCTGAATACAGCCAGCTTTCATTAGAGCATGAAAAACTTTATCACTCTGGGCATTTGGAAAAACTGCAATGTGCATAAGGCTGAGAGGAAGCAGAACATCTCCTTCAGGAACCACAA... | pathogenic | 207,196 |
Mutation found at chromosome 13 position 23335972, gene SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | CACTCTGGGCATTTGGAAAAACTGCAATGTGCATAAGGCTGAGAGGAAGCAGAACATCTCCTTCAGGAACCACAAGCTGGTTGGCTGAAACAGTAAACTTTGTTCCTGGAAGCAATGCCCAGTCTTTTAGAGTATCAACAACAATGTCAAATGTTGGTTTTGTTTCTTCCTGATCTTCTTTCACACTTACAGATTCACTAATAAAATGCCATGCATTCTTAAGCCAAGACTCACTTGCAAAATTGTCTTTCCACTTTGTGCAACTTTTGGTCTTATATTCTCGAGGCAACACAGAGGATAACAAATCAGCAAAGCTGGAA... | CACTCTGGGCATTTGGAAAAACTGCAATGTGCATAAGGCTGAGAGGAAGCAGAACATCTCCTTCAGGAACCACAAGCTGGTTGGCTGAAACAGTAAACTTTGTTCCTGGAAGCAATGCCCAGTCTTTTAGAGTATCAACAACAATGTCAAATGTTGGTTTTGTTTCTTCCTGATCTTCTTTCACACTTACAGATTCACTAATAAAATGCCATGCATTCTTAAGCCAAGACTCACTTGCAAAATTGTCTTTCCACTTTGTGCAACTTTTGGTCTTATATTCTCGAGGCAACACAGAGGATAACAAATCAGCAAAGCTGGAA... | pathogenic | 207,200 |
Considering the genetic mutation at chromosome 13, position 23336031, impacting SACS (sacsin molecular chaperone): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | CCTTCAGGAACCACAAGCTGGTTGGCTGAAACAGTAAACTTTGTTCCTGGAAGCAATGCCCAGTCTTTTAGAGTATCAACAACAATGTCAAATGTTGGTTTTGTTTCTTCCTGATCTTCTTTCACACTTACAGATTCACTAATAAAATGCCATGCATTCTTAAGCCAAGACTCACTTGCAAAATTGTCTTTCCACTTTGTGCAACTTTTGGTCTTATATTCTCGAGGCAACACAGAGGATAACAAATCAGCAAAGCTGGAAATGTCAAACACTTTTGCAACTTTACAGTTCAATAAAATATTACTATATTTCAAATATAA... | CCTTCAGGAACCACAAGCTGGTTGGCTGAAACAGTAAACTTTGTTCCTGGAAGCAATGCCCAGTCTTTTAGAGTATCAACAACAATGTCAAATGTTGGTTTTGTTTCTTCCTGATCTTCTTTCACACTTACAGATTCACTAATAAAATGCCATGCATTCTTAAGCCAAGACTCACTTGCAAAATTGTCTTTCCACTTTGTGCAACTTTTGGTCTTATATTCTCGAGGCAACACAGAGGATAACAAATCAGCAAAGCTGGAAATGTCAAACACTTTTGCAACTTTACAGTTCAATAAAATATTACTATATTTCAAATATAA... | pathogenic | 207,201 |
Variant at chromosome 13, position 23336087, gene SACS (sacsin molecular chaperone): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TGCCCAGTCTTTTAGAGTATCAACAACAATGTCAAATGTTGGTTTTGTTTCTTCCTGATCTTCTTTCACACTTACAGATTCACTAATAAAATGCCATGCATTCTTAAGCCAAGACTCACTTGCAAAATTGTCTTTCCACTTTGTGCAACTTTTGGTCTTATATTCTCGAGGCAACACAGAGGATAACAAATCAGCAAAGCTGGAAATGTCAAACACTTTTGCAACTTTACAGTTCAATAAAATATTACTATATTTCAAATATAATGTATTCATAAACAAGTCTTTGCGGGATGGAATCAATTCATGATATGTTGTTAGAA... | TGCCCAGTCTTTTAGAGTATCAACAACAATGTCAAATGTTGGTTTTGTTTCTTCCTGATCTTCTTTCACACTTACAGATTCACTAATAAAATGCCATGCATTCTTAAGCCAAGACTCACTTGCAAAATTGTCTTTCCACTTTGTGCAACTTTTGGTCTTATATTCTCGAGGCAACACAGAGGATAACAAATCAGCAAAGCTGGAAATGTCAAACACTTTTGCAACTTTACAGTTCAATAAAATATTACTATATTTCAAATATAATGTATTCATAAACAAGTCTTTGCGGGATGGAATCAATTCATGATATGTTGTTAGAA... | pathogenic | 207,203 |
Chromosome 13, position 23336351, gene SACS (sacsin molecular chaperone): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TGTATTCATAAACAAGTCTTTGCGGGATGGAATCAATTCATGATATGTTGTTAGAAACTTGGGTCGTTTTGCATCAAAAGTTTGCAAAACACTGTCCAGTGTGATGAGAAGGGGCAATCCCTCAACTTCAATCTCATTTTCTTCTGCATCTTTAAAACAATAATCAACTAAAAGTTTTAAACTATGAAAAAGTTTTAGATTAGTCTGCTGCAGACGACAAGGCAGCTTCCCAATATGGCAATTAGTGTCAGGAGAGGAAAATGTCATTAAAAAAGATCTGATATCAGCAGGGGTCACATAACTAACAGGAATATCTGCAT... | TGTATTCATAAACAAGTCTTTGCGGGATGGAATCAATTCATGATATGTTGTTAGAAACTTGGGTCGTTTTGCATCAAAAGTTTGCAAAACACTGTCCAGTGTGATGAGAAGGGGCAATCCCTCAACTTCAATCTCATTTTCTTCTGCATCTTTAAAACAATAATCAACTAAAAGTTTTAAACTATGAAAAAGTTTTAGATTAGTCTGCTGCAGACGACAAGGCAGCTTCCCAATATGGCAATTAGTGTCAGGAGAGGAAAATGTCATTAAAAAAGATCTGATATCAGCAGGGGTCACATAACTAACAGGAATATCTGCAT... | pathogenic | 207,205 |
Variant at chromosome 13, position 23336432, gene SACS (sacsin molecular chaperone): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | TTGCAAAACACTGTCCAGTGTGATGAGAAGGGGCAATCCCTCAACTTCAATCTCATTTTCTTCTGCATCTTTAAAACAATAATCAACTAAAAGTTTTAAACTATGAAAAAGTTTTAGATTAGTCTGCTGCAGACGACAAGGCAGCTTCCCAATATGGCAATTAGTGTCAGGAGAGGAAAATGTCATTAAAAAAGATCTGATATCAGCAGGGGTCACATAACTAACAGGAATATCTGCATCTATAAGACAGTGGTAAAGATTAGCAGTTTCATCACAGTTATAAACCAAGTTGAAACCAATTTCTAAAAGGAGATGTTTCA... | TTGCAAAACACTGTCCAGTGTGATGAGAAGGGGCAATCCCTCAACTTCAATCTCATTTTCTTCTGCATCTTTAAAACAATAATCAACTAAAAGTTTTAAACTATGAAAAAGTTTTAGATTAGTCTGCTGCAGACGACAAGGCAGCTTCCCAATATGGCAATTAGTGTCAGGAGAGGAAAATGTCATTAAAAAAGATCTGATATCAGCAGGGGTCACATAACTAACAGGAATATCTGCATCTATAAGACAGTGGTAAAGATTAGCAGTTTCATCACAGTTATAAACCAAGTTGAAACCAATTTCTAAAAGGAGATGTTTCA... | pathogenic | 207,207 |
Benign or pathogenic: chromosome 13, position 23336669, gene SACS (sacsin molecular chaperone) variant? Disease(s) if pathogenic? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | ATCTATAAGACAGTGGTAAAGATTAGCAGTTTCATCACAGTTATAAACCAAGTTGAAACCAATTTCTAAAAGGAGATGTTTCAGCCTATAGACATTCTCTGCTACTGTTTTGCGTGTGGTGATATTATAATCTGCATTTTTAAGGTGTTGTAATTCATCCTGTAGTAAATTGTCAAAAAATGGTCTAGTTTTATTAGAAGTAGACATATTGATCCAAGTAATTATAACTGCAGAGTGCAAGTCAGAGCCATCAATATTTGGAGCCCGCACAACAGGTAAAAGACGTTTCATGTCTTCGTGAATGCAATTGTAAAGTGCTT... | ATCTATAAGACAGTGGTAAAGATTAGCAGTTTCATCACAGTTATAAACCAAGTTGAAACCAATTTCTAAAAGGAGATGTTTCAGCCTATAGACATTCTCTGCTACTGTTTTGCGTGTGGTGATATTATAATCTGCATTTTTAAGGTGTTGTAATTCATCCTGTAGTAAATTGTCAAAAAATGGTCTAGTTTTATTAGAAGTAGACATATTGATCCAAGTAATTATAACTGCAGAGTGCAAGTCAGAGCCATCAATATTTGGAGCCCGCACAACAGGTAAAAGACGTTTCATGTCTTCGTGAATGCAATTGTAAAGTGCTT... | pathogenic | 207,213 |
Is the variant located on chromosome 13 at position 23336712, gene SACS (sacsin molecular chaperone), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TAAACCAAGTTGAAACCAATTTCTAAAAGGAGATGTTTCAGCCTATAGACATTCTCTGCTACTGTTTTGCGTGTGGTGATATTATAATCTGCATTTTTAAGGTGTTGTAATTCATCCTGTAGTAAATTGTCAAAAAATGGTCTAGTTTTATTAGAAGTAGACATATTGATCCAAGTAATTATAACTGCAGAGTGCAAGTCAGAGCCATCAATATTTGGAGCCCGCACAACAGGTAAAAGACGTTTCATGTCTTCGTGAATGCAATTGTAAAGTGCTTTCACTAGACAATATAAATCTGGCTGTAGATCAAGACGGTTAAC... | TAAACCAAGTTGAAACCAATTTCTAAAAGGAGATGTTTCAGCCTATAGACATTCTCTGCTACTGTTTTGCGTGTGGTGATATTATAATCTGCATTTTTAAGGTGTTGTAATTCATCCTGTAGTAAATTGTCAAAAAATGGTCTAGTTTTATTAGAAGTAGACATATTGATCCAAGTAATTATAACTGCAGAGTGCAAGTCAGAGCCATCAATATTTGGAGCCCGCACAACAGGTAAAAGACGTTTCATGTCTTCGTGAATGCAATTGTAAAGTGCTTTCACTAGACAATATAAATCTGGCTGTAGATCAAGACGGTTAAC... | pathogenic | 207,214 |
Does the variant on chromosome 13 at location 23336736 affecting gene SACS (sacsin molecular chaperone) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Inborn_genetic_diseases', 'Spastic_paraplegia'] | AAAAGGAGATGTTTCAGCCTATAGACATTCTCTGCTACTGTTTTGCGTGTGGTGATATTATAATCTGCATTTTTAAGGTGTTGTAATTCATCCTGTAGTAAATTGTCAAAAAATGGTCTAGTTTTATTAGAAGTAGACATATTGATCCAAGTAATTATAACTGCAGAGTGCAAGTCAGAGCCATCAATATTTGGAGCCCGCACAACAGGTAAAAGACGTTTCATGTCTTCGTGAATGCAATTGTAAAGTGCTTTCACTAGACAATATAAATCTGGCTGTAGATCAAGACGGTTAACTGGGAAAAACGATAAAAACTTCTT... | AAAAGGAGATGTTTCAGCCTATAGACATTCTCTGCTACTGTTTTGCGTGTGGTGATATTATAATCTGCATTTTTAAGGTGTTGTAATTCATCCTGTAGTAAATTGTCAAAAAATGGTCTAGTTTTATTAGAAGTAGACATATTGATCCAAGTAATTATAACTGCAGAGTGCAAGTCAGAGCCATCAATATTTGGAGCCCGCACAACAGGTAAAAGACGTTTCATGTCTTCGTGAATGCAATTGTAAAGTGCTTTCACTAGACAATATAAATCTGGCTGTAGATCAAGACGGTTAACTGGGAAAAACGATAAAAACTTCTT... | pathogenic | 207,216 |
Is the genetic mutation found on chromosome 13 at position 23336761, within the gene SACS (sacsin molecular chaperone), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | CATTCTCTGCTACTGTTTTGCGTGTGGTGATATTATAATCTGCATTTTTAAGGTGTTGTAATTCATCCTGTAGTAAATTGTCAAAAAATGGTCTAGTTTTATTAGAAGTAGACATATTGATCCAAGTAATTATAACTGCAGAGTGCAAGTCAGAGCCATCAATATTTGGAGCCCGCACAACAGGTAAAAGACGTTTCATGTCTTCGTGAATGCAATTGTAAAGTGCTTTCACTAGACAATATAAATCTGGCTGTAGATCAAGACGGTTAACTGGGAAAAACGATAAAAACTTCTTTAAAGTGTCCTTTACAACATGAATA... | CATTCTCTGCTACTGTTTTGCGTGTGGTGATATTATAATCTGCATTTTTAAGGTGTTGTAATTCATCCTGTAGTAAATTGTCAAAAAATGGTCTAGTTTTATTAGAAGTAGACATATTGATCCAAGTAATTATAACTGCAGAGTGCAAGTCAGAGCCATCAATATTTGGAGCCCGCACAACAGGTAAAAGACGTTTCATGTCTTCGTGAATGCAATTGTAAAGTGCTTTCACTAGACAATATAAATCTGGCTGTAGATCAAGACGGTTAACTGGGAAAAACGATAAAAACTTCTTTAAAGTGTCCTTTACAACATGAATA... | pathogenic | 207,218 |
Variant chromosome 13, position 23336791, gene SACS (sacsin molecular chaperone): benign or pathogenic? Disease(s)? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TATTATAATCTGCATTTTTAAGGTGTTGTAATTCATCCTGTAGTAAATTGTCAAAAAATGGTCTAGTTTTATTAGAAGTAGACATATTGATCCAAGTAATTATAACTGCAGAGTGCAAGTCAGAGCCATCAATATTTGGAGCCCGCACAACAGGTAAAAGACGTTTCATGTCTTCGTGAATGCAATTGTAAAGTGCTTTCACTAGACAATATAAATCTGGCTGTAGATCAAGACGGTTAACTGGGAAAAACGATAAAAACTTCTTTAAAGTGTCCTTTACAACATGAATAGGGGTGTTCTGTAACACTGATAATGTTGGA... | TATTATAATCTGCATTTTTAAGGTGTTGTAATTCATCCTGTAGTAAATTGTCAAAAAATGGTCTAGTTTTATTAGAAGTAGACATATTGATCCAAGTAATTATAACTGCAGAGTGCAAGTCAGAGCCATCAATATTTGGAGCCCGCACAACAGGTAAAAGACGTTTCATGTCTTCGTGAATGCAATTGTAAAGTGCTTTCACTAGACAATATAAATCTGGCTGTAGATCAAGACGGTTAACTGGGAAAAACGATAAAAACTTCTTTAAAGTGTCCTTTACAACATGAATAGGGGTGTTCTGTAACACTGATAATGTTGGA... | pathogenic | 207,219 |
Is the variant located on chromosome 13 at position 23336978, gene SACS (sacsin molecular chaperone), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | GTAAAGTGCTTTCACTAGACAATATAAATCTGGCTGTAGATCAAGACGGTTAACTGGGAAAAACGATAAAAACTTCTTTAAAGTGTCCTTTACAACATGAATAGGGGTGTTCTGTAACACTGATAATGTTGGATCAGAACCAGGGAAATACCGTTTTTTTAACTGTATTAGCAATTCAACATATGCAGGAGCTATTAATGCTGTCATTAAACTGTTATTCCAGTCACTTCGAACACCAACTCCATTATCATCACGCCACAGGTTCCTTCTGGCTGAATCCAGTGCAAAGTGGCCATTCACATGAAATGGCAGCCCAGTCT... | GTAAAGTGCTTTCACTAGACAATATAAATCTGGCTGTAGATCAAGACGGTTAACTGGGAAAAACGATAAAAACTTCTTTAAAGTGTCCTTTACAACATGAATAGGGGTGTTCTGTAACACTGATAATGTTGGATCAGAACCAGGGAAATACCGTTTTTTTAACTGTATTAGCAATTCAACATATGCAGGAGCTATTAATGCTGTCATTAAACTGTTATTCCAGTCACTTCGAACACCAACTCCATTATCATCACGCCACAGGTTCCTTCTGGCTGAATCCAGTGCAAAGTGGCCATTCACATGAAATGGCAGCCCAGTCT... | pathogenic | 207,220 |
Benign or pathogenic: chromosome 13, position 23337008, gene SACS (sacsin molecular chaperone) variant? Disease(s) if pathogenic? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TGGCTGTAGATCAAGACGGTTAACTGGGAAAAACGATAAAAACTTCTTTAAAGTGTCCTTTACAACATGAATAGGGGTGTTCTGTAACACTGATAATGTTGGATCAGAACCAGGGAAATACCGTTTTTTTAACTGTATTAGCAATTCAACATATGCAGGAGCTATTAATGCTGTCATTAAACTGTTATTCCAGTCACTTCGAACACCAACTCCATTATCATCACGCCACAGGTTCCTTCTGGCTGAATCCAGTGCAAAGTGGCCATTCACATGAAATGGCAGCCCAGTCTCCAAAGAAAGAGGCAAAAAACAGAAGGCCC... | TGGCTGTAGATCAAGACGGTTAACTGGGAAAAACGATAAAAACTTCTTTAAAGTGTCCTTTACAACATGAATAGGGGTGTTCTGTAACACTGATAATGTTGGATCAGAACCAGGGAAATACCGTTTTTTTAACTGTATTAGCAATTCAACATATGCAGGAGCTATTAATGCTGTCATTAAACTGTTATTCCAGTCACTTCGAACACCAACTCCATTATCATCACGCCACAGGTTCCTTCTGGCTGAATCCAGTGCAAAGTGGCCATTCACATGAAATGGCAGCCCAGTCTCCAAAGAAAGAGGCAAAAAACAGAAGGCCC... | pathogenic | 207,222 |
Is the genetic mutation found on chromosome 13 at position 23337038, within the gene SACS (sacsin molecular chaperone), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | AAACGATAAAAACTTCTTTAAAGTGTCCTTTACAACATGAATAGGGGTGTTCTGTAACACTGATAATGTTGGATCAGAACCAGGGAAATACCGTTTTTTTAACTGTATTAGCAATTCAACATATGCAGGAGCTATTAATGCTGTCATTAAACTGTTATTCCAGTCACTTCGAACACCAACTCCATTATCATCACGCCACAGGTTCCTTCTGGCTGAATCCAGTGCAAAGTGGCCATTCACATGAAATGGCAGCCCAGTCTCCAAAGAAAGAGGCAAAAAACAGAAGGCCCTATGGGGTTTTTTATAGTTGTGAGTAATGC... | AAACGATAAAAACTTCTTTAAAGTGTCCTTTACAACATGAATAGGGGTGTTCTGTAACACTGATAATGTTGGATCAGAACCAGGGAAATACCGTTTTTTTAACTGTATTAGCAATTCAACATATGCAGGAGCTATTAATGCTGTCATTAAACTGTTATTCCAGTCACTTCGAACACCAACTCCATTATCATCACGCCACAGGTTCCTTCTGGCTGAATCCAGTGCAAAGTGGCCATTCACATGAAATGGCAGCCCAGTCTCCAAAGAAAGAGGCAAAAAACAGAAGGCCCTATGGGGTTTTTTATAGTTGTGAGTAATGC... | pathogenic | 207,223 |
Clinically, how would you classify the variant at chromosome 13, position 23337118, gene SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | CAGGGAAATACCGTTTTTTTAACTGTATTAGCAATTCAACATATGCAGGAGCTATTAATGCTGTCATTAAACTGTTATTCCAGTCACTTCGAACACCAACTCCATTATCATCACGCCACAGGTTCCTTCTGGCTGAATCCAGTGCAAAGTGGCCATTCACATGAAATGGCAGCCCAGTCTCCAAAGAAAGAGGCAAAAAACAGAAGGCCCTATGGGGTTTTTTATAGTTGTGAGTAATGCAGGCAGCTACTCCACCACGTGGGAAAAGAGTAATATCTTGGTTCTTGTGAGCTGATATGACACTTTTAGATACTTTCTCC... | CAGGGAAATACCGTTTTTTTAACTGTATTAGCAATTCAACATATGCAGGAGCTATTAATGCTGTCATTAAACTGTTATTCCAGTCACTTCGAACACCAACTCCATTATCATCACGCCACAGGTTCCTTCTGGCTGAATCCAGTGCAAAGTGGCCATTCACATGAAATGGCAGCCCAGTCTCCAAAGAAAGAGGCAAAAAACAGAAGGCCCTATGGGGTTTTTTATAGTTGTGAGTAATGCAGGCAGCTACTCCACCACGTGGGAAAAGAGTAATATCTTGGTTCTTGTGAGCTGATATGACACTTTTAGATACTTTCTCC... | pathogenic | 207,224 |
Variant chromosome 13, position 23337212, gene SACS (sacsin molecular chaperone): benign or pathogenic? Disease(s)? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Hereditary_spastic_paraplegia'] | ACCAACTCCATTATCATCACGCCACAGGTTCCTTCTGGCTGAATCCAGTGCAAAGTGGCCATTCACATGAAATGGCAGCCCAGTCTCCAAAGAAAGAGGCAAAAAACAGAAGGCCCTATGGGGTTTTTTATAGTTGTGAGTAATGCAGGCAGCTACTCCACCACGTGGGAAAAGAGTAATATCTTGGTTCTTGTGAGCTGATATGACACTTTTAGATACTTTCTCCATACTTGAAAAGCCTGATCTATTACAAATTAGCCACGTAGTAAGATTTCCTTCAGAGTCCTCAGTATCCATAGTATAGGTTATTTGTTGAACTG... | ACCAACTCCATTATCATCACGCCACAGGTTCCTTCTGGCTGAATCCAGTGCAAAGTGGCCATTCACATGAAATGGCAGCCCAGTCTCCAAAGAAAGAGGCAAAAAACAGAAGGCCCTATGGGGTTTTTTATAGTTGTGAGTAATGCAGGCAGCTACTCCACCACGTGGGAAAAGAGTAATATCTTGGTTCTTGTGAGCTGATATGACACTTTTAGATACTTTCTCCATACTTGAAAAGCCTGATCTATTACAAATTAGCCACGTAGTAAGATTTCCTTCAGAGTCCTCAGTATCCATAGTATAGGTTATTTGTTGAACTG... | pathogenic | 207,225 |
Is chromosome 13, position 23337252, gene SACS (sacsin molecular chaperone) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | GAATCCAGTGCAAAGTGGCCATTCACATGAAATGGCAGCCCAGTCTCCAAAGAAAGAGGCAAAAAACAGAAGGCCCTATGGGGTTTTTTATAGTTGTGAGTAATGCAGGCAGCTACTCCACCACGTGGGAAAAGAGTAATATCTTGGTTCTTGTGAGCTGATATGACACTTTTAGATACTTTCTCCATACTTGAAAAGCCTGATCTATTACAAATTAGCCACGTAGTAAGATTTCCTTCAGAGTCCTCAGTATCCATAGTATAGGTTATTTGTTGAACTGGTATGTCTTTGAGCTGCCTCTTTTTAGTAACACTATCAAT... | GAATCCAGTGCAAAGTGGCCATTCACATGAAATGGCAGCCCAGTCTCCAAAGAAAGAGGCAAAAAACAGAAGGCCCTATGGGGTTTTTTATAGTTGTGAGTAATGCAGGCAGCTACTCCACCACGTGGGAAAAGAGTAATATCTTGGTTCTTGTGAGCTGATATGACACTTTTAGATACTTTCTCCATACTTGAAAAGCCTGATCTATTACAAATTAGCCACGTAGTAAGATTTCCTTCAGAGTCCTCAGTATCCATAGTATAGGTTATTTGTTGAACTGGTATGTCTTTGAGCTGCCTCTTTTTAGTAACACTATCAAT... | pathogenic | 207,227 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 23337337, gene SACS (sacsin molecular chaperone). What disease(s) is it linked to if pathogenic? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TTTTATAGTTGTGAGTAATGCAGGCAGCTACTCCACCACGTGGGAAAAGAGTAATATCTTGGTTCTTGTGAGCTGATATGACACTTTTAGATACTTTCTCCATACTTGAAAAGCCTGATCTATTACAAATTAGCCACGTAGTAAGATTTCCTTCAGAGTCCTCAGTATCCATAGTATAGGTTATTTGTTGAACTGGTATGTCTTTGAGCTGCCTCTTTTTAGTAACACTATCAATTACAGATGCATGAAATTGTTTCCTTTTCAATCTGTCTCCATCTGTGATTTTGCCCTTTACTGAATACAGCACATTTAGAGCTCCA... | TTTTATAGTTGTGAGTAATGCAGGCAGCTACTCCACCACGTGGGAAAAGAGTAATATCTTGGTTCTTGTGAGCTGATATGACACTTTTAGATACTTTCTCCATACTTGAAAAGCCTGATCTATTACAAATTAGCCACGTAGTAAGATTTCCTTCAGAGTCCTCAGTATCCATAGTATAGGTTATTTGTTGAACTGGTATGTCTTTGAGCTGCCTCTTTTTAGTAACACTATCAATTACAGATGCATGAAATTGTTTCCTTTTCAATCTGTCTCCATCTGTGATTTTGCCCTTTACTGAATACAGCACATTTAGAGCTCCA... | pathogenic | 207,229 |
Gene SACS (sacsin molecular chaperone) variant at chromosome position 23337423 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TTAGATACTTTCTCCATACTTGAAAAGCCTGATCTATTACAAATTAGCCACGTAGTAAGATTTCCTTCAGAGTCCTCAGTATCCATAGTATAGGTTATTTGTTGAACTGGTATGTCTTTGAGCTGCCTCTTTTTAGTAACACTATCAATTACAGATGCATGAAATTGTTTCCTTTTCAATCTGTCTCCATCTGTGATTTTGCCCTTTACTGAATACAGCACATTTAGAGCTCCAGTACTCTTATCTATTTCACAAATAGAAATTTTTTCCATGTGATTAAGAAACATTAGAAGTTCTGCCCCATCTGAGCGCAGTTTGTC... | TTAGATACTTTCTCCATACTTGAAAAGCCTGATCTATTACAAATTAGCCACGTAGTAAGATTTCCTTCAGAGTCCTCAGTATCCATAGTATAGGTTATTTGTTGAACTGGTATGTCTTTGAGCTGCCTCTTTTTAGTAACACTATCAATTACAGATGCATGAAATTGTTTCCTTTTCAATCTGTCTCCATCTGTGATTTTGCCCTTTACTGAATACAGCACATTTAGAGCTCCAGTACTCTTATCTATTTCACAAATAGAAATTTTTTCCATGTGATTAAGAAACATTAGAAGTTCTGCCCCATCTGAGCGCAGTTTGTC... | pathogenic | 207,230 |
Chromosome 13, position 23337534, gene SACS (sacsin molecular chaperone): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | ATGTCTTTGAGCTGCCTCTTTTTAGTAACACTATCAATTACAGATGCATGAAATTGTTTCCTTTTCAATCTGTCTCCATCTGTGATTTTGCCCTTTACTGAATACAGCACATTTAGAGCTCCAGTACTCTTATCTATTTCACAAATAGAAATTTTTTCCATGTGATTAAGAAACATTAGAAGTTCTGCCCCATCTGAGCGCAGTTTGTCCAAAAGATTCTGGACCATTCTGTCTGATGCTGGAACAGACGAAATTTCCGAAACTTTTGCCATTTCTGCATTACGAAGAGGAAATCTGAACATTGTGCAATTATCCAGTTT... | ATGTCTTTGAGCTGCCTCTTTTTAGTAACACTATCAATTACAGATGCATGAAATTGTTTCCTTTTCAATCTGTCTCCATCTGTGATTTTGCCCTTTACTGAATACAGCACATTTAGAGCTCCAGTACTCTTATCTATTTCACAAATAGAAATTTTTTCCATGTGATTAAGAAACATTAGAAGTTCTGCCCCATCTGAGCGCAGTTTGTCCAAAAGATTCTGGACCATTCTGTCTGATGCTGGAACAGACGAAATTTCCGAAACTTTTGCCATTTCTGCATTACGAAGAGGAAATCTGAACATTGTGCAATTATCCAGTTT... | pathogenic | 207,234 |
The genetic variant at chromosome 13, position 23337585, affecting gene SACS (sacsin molecular chaperone): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | AATTGTTTCCTTTTCAATCTGTCTCCATCTGTGATTTTGCCCTTTACTGAATACAGCACATTTAGAGCTCCAGTACTCTTATCTATTTCACAAATAGAAATTTTTTCCATGTGATTAAGAAACATTAGAAGTTCTGCCCCATCTGAGCGCAGTTTGTCCAAAAGATTCTGGACCATTCTGTCTGATGCTGGAACAGACGAAATTTCCGAAACTTTTGCCATTTCTGCATTACGAAGAGGAAATCTGAACATTGTGCAATTATCCAGTTTAAAATGGGTTCCCAGATAAAGATCCAGAACATCTGAGAACTGTGTCCTAAA... | AATTGTTTCCTTTTCAATCTGTCTCCATCTGTGATTTTGCCCTTTACTGAATACAGCACATTTAGAGCTCCAGTACTCTTATCTATTTCACAAATAGAAATTTTTTCCATGTGATTAAGAAACATTAGAAGTTCTGCCCCATCTGAGCGCAGTTTGTCCAAAAGATTCTGGACCATTCTGTCTGATGCTGGAACAGACGAAATTTCCGAAACTTTTGCCATTTCTGCATTACGAAGAGGAAATCTGAACATTGTGCAATTATCCAGTTTAAAATGGGTTCCCAGATAAAGATCCAGAACATCTGAGAACTGTGTCCTAAA... | pathogenic | 207,235 |
Variant chromosome 13, position 23337593, gene SACS (sacsin molecular chaperone): benign or pathogenic? Disease(s)? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | CCTTTTCAATCTGTCTCCATCTGTGATTTTGCCCTTTACTGAATACAGCACATTTAGAGCTCCAGTACTCTTATCTATTTCACAAATAGAAATTTTTTCCATGTGATTAAGAAACATTAGAAGTTCTGCCCCATCTGAGCGCAGTTTGTCCAAAAGATTCTGGACCATTCTGTCTGATGCTGGAACAGACGAAATTTCCGAAACTTTTGCCATTTCTGCATTACGAAGAGGAAATCTGAACATTGTGCAATTATCCAGTTTAAAATGGGTTCCCAGATAAAGATCCAGAACATCTGAGAACTGTGTCCTAAAATCTGCAT... | CCTTTTCAATCTGTCTCCATCTGTGATTTTGCCCTTTACTGAATACAGCACATTTAGAGCTCCAGTACTCTTATCTATTTCACAAATAGAAATTTTTTCCATGTGATTAAGAAACATTAGAAGTTCTGCCCCATCTGAGCGCAGTTTGTCCAAAAGATTCTGGACCATTCTGTCTGATGCTGGAACAGACGAAATTTCCGAAACTTTTGCCATTTCTGCATTACGAAGAGGAAATCTGAACATTGTGCAATTATCCAGTTTAAAATGGGTTCCCAGATAAAGATCCAGAACATCTGAGAACTGTGTCCTAAAATCTGCAT... | pathogenic | 207,236 |
Evaluate the clinical significance of the mutation at chromosome 13, position 23337654 in gene SACS (sacsin molecular chaperone): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | CCAGTACTCTTATCTATTTCACAAATAGAAATTTTTTCCATGTGATTAAGAAACATTAGAAGTTCTGCCCCATCTGAGCGCAGTTTGTCCAAAAGATTCTGGACCATTCTGTCTGATGCTGGAACAGACGAAATTTCCGAAACTTTTGCCATTTCTGCATTACGAAGAGGAAATCTGAACATTGTGCAATTATCCAGTTTAAAATGGGTTCCCAGATAAAGATCCAGAACATCTGAGAACTGTGTCCTAAAATCTGCATCCAAATCTCTAAACATGCGTCCGGGACTAATGGATGTGGCCCCTGGTGCATATCTGGCATG... | CCAGTACTCTTATCTATTTCACAAATAGAAATTTTTTCCATGTGATTAAGAAACATTAGAAGTTCTGCCCCATCTGAGCGCAGTTTGTCCAAAAGATTCTGGACCATTCTGTCTGATGCTGGAACAGACGAAATTTCCGAAACTTTTGCCATTTCTGCATTACGAAGAGGAAATCTGAACATTGTGCAATTATCCAGTTTAAAATGGGTTCCCAGATAAAGATCCAGAACATCTGAGAACTGTGTCCTAAAATCTGCATCCAAATCTCTAAACATGCGTCCGGGACTAATGGATGTGGCCCCTGGTGCATATCTGGCATG... | pathogenic | 207,238 |
A genetic alteration at chromosome 13, position 23337689, in gene SACS (sacsin molecular chaperone)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | TTCCATGTGATTAAGAAACATTAGAAGTTCTGCCCCATCTGAGCGCAGTTTGTCCAAAAGATTCTGGACCATTCTGTCTGATGCTGGAACAGACGAAATTTCCGAAACTTTTGCCATTTCTGCATTACGAAGAGGAAATCTGAACATTGTGCAATTATCCAGTTTAAAATGGGTTCCCAGATAAAGATCCAGAACATCTGAGAACTGTGTCCTAAAATCTGCATCCAAATCTCTAAACATGCGTCCGGGACTAATGGATGTGGCCCCTGGTGCATATCTGGCATGAGGATCAAAAATACACAGGATGTCATTGCCAGAAA... | TTCCATGTGATTAAGAAACATTAGAAGTTCTGCCCCATCTGAGCGCAGTTTGTCCAAAAGATTCTGGACCATTCTGTCTGATGCTGGAACAGACGAAATTTCCGAAACTTTTGCCATTTCTGCATTACGAAGAGGAAATCTGAACATTGTGCAATTATCCAGTTTAAAATGGGTTCCCAGATAAAGATCCAGAACATCTGAGAACTGTGTCCTAAAATCTGCATCCAAATCTCTAAACATGCGTCCGGGACTAATGGATGTGGCCCCTGGTGCATATCTGGCATGAGGATCAAAAATACACAGGATGTCATTGCCAGAAA... | pathogenic | 207,240 |
Variant at chromosome 13, position 23337703, gene SACS (sacsin molecular chaperone): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | GAAACATTAGAAGTTCTGCCCCATCTGAGCGCAGTTTGTCCAAAAGATTCTGGACCATTCTGTCTGATGCTGGAACAGACGAAATTTCCGAAACTTTTGCCATTTCTGCATTACGAAGAGGAAATCTGAACATTGTGCAATTATCCAGTTTAAAATGGGTTCCCAGATAAAGATCCAGAACATCTGAGAACTGTGTCCTAAAATCTGCATCCAAATCTCTAAACATGCGTCCGGGACTAATGGATGTGGCCCCTGGTGCATATCTGGCATGAGGATCAAAAATACACAGGATGTCATTGCCAGAAATAAAAGATGGGCAG... | GAAACATTAGAAGTTCTGCCCCATCTGAGCGCAGTTTGTCCAAAAGATTCTGGACCATTCTGTCTGATGCTGGAACAGACGAAATTTCCGAAACTTTTGCCATTTCTGCATTACGAAGAGGAAATCTGAACATTGTGCAATTATCCAGTTTAAAATGGGTTCCCAGATAAAGATCCAGAACATCTGAGAACTGTGTCCTAAAATCTGCATCCAAATCTCTAAACATGCGTCCGGGACTAATGGATGTGGCCCCTGGTGCATATCTGGCATGAGGATCAAAAATACACAGGATGTCATTGCCAGAAATAAAAGATGGGCAG... | pathogenic | 207,241 |
Is the genetic change at chromosome 13, position 23337826, within gene SACS (sacsin molecular chaperone) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | ATCTGAACATTGTGCAATTATCCAGTTTAAAATGGGTTCCCAGATAAAGATCCAGAACATCTGAGAACTGTGTCCTAAAATCTGCATCCAAATCTCTAAACATGCGTCCGGGACTAATGGATGTGGCCCCTGGTGCATATCTGGCATGAGGATCAAAAATACACAGGATGTCATTGCCAGAAATAAAAGATGGGCAGTCTGTGATATGATACACAGAATTGAATCCTATTCCATACTGTCCAGTTTTATAAGGATTTCCCTCTTTCGTGCCTTTTCCAAGATTCTGAATTCCTCTAACATCATCTTCTGTAAATGGCTGG... | ATCTGAACATTGTGCAATTATCCAGTTTAAAATGGGTTCCCAGATAAAGATCCAGAACATCTGAGAACTGTGTCCTAAAATCTGCATCCAAATCTCTAAACATGCGTCCGGGACTAATGGATGTGGCCCCTGGTGCATATCTGGCATGAGGATCAAAAATACACAGGATGTCATTGCCAGAAATAAAAGATGGGCAGTCTGTGATATGATACACAGAATTGAATCCTATTCCATACTGTCCAGTTTTATAAGGATTTCCCTCTTTCGTGCCTTTTCCAAGATTCTGAATTCCTCTAACATCATCTTCTGTAAATGGCTGG... | pathogenic | 207,245 |
Variant in SACS (sacsin molecular chaperone), chromosome 13, position 23337871—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | AAAGATCCAGAACATCTGAGAACTGTGTCCTAAAATCTGCATCCAAATCTCTAAACATGCGTCCGGGACTAATGGATGTGGCCCCTGGTGCATATCTGGCATGAGGATCAAAAATACACAGGATGTCATTGCCAGAAATAAAAGATGGGCAGTCTGTGATATGATACACAGAATTGAATCCTATTCCATACTGTCCAGTTTTATAAGGATTTCCCTCTTTCGTGCCTTTTCCAAGATTCTGAATTCCTCTAACATCATCTTCTGTAAATGGCTGGTTGTTGTACACACAAAGTGCTGGCCCTTGCAATGGGGCCCACTTA... | AAAGATCCAGAACATCTGAGAACTGTGTCCTAAAATCTGCATCCAAATCTCTAAACATGCGTCCGGGACTAATGGATGTGGCCCCTGGTGCATATCTGGCATGAGGATCAAAAATACACAGGATGTCATTGCCAGAAATAAAAGATGGGCAGTCTGTGATATGATACACAGAATTGAATCCTATTCCATACTGTCCAGTTTTATAAGGATTTCCCTCTTTCGTGCCTTTTCCAAGATTCTGAATTCCTCTAACATCATCTTCTGTAAATGGCTGGTTGTTGTACACACAAAGTGCTGGCCCTTGCAATGGGGCCCACTTA... | pathogenic | 207,246 |
Is the genetic mutation found on chromosome 13 at position 23338048, within the gene SACS (sacsin molecular chaperone), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | ATCCTATTCCATACTGTCCAGTTTTATAAGGATTTCCCTCTTTCGTGCCTTTTCCAAGATTCTGAATTCCTCTAACATCATCTTCTGTAAATGGCTGGTTGTTGTACACACAAAGTGCTGGCCCTTGCAATGGGGCCCACTTATCATCAAATATTCTATCAACTGGATGCTGTCTAGGATCAAACACAAAACAGATTTCTGTCGCCTTTGCATCATCAGCATTTTGAAGAAGCTCTTTCAACATTTCCTTTTCAGAAGGATATGCATTAAGGATGCTCTTAATTCTGCTGGTCAATTTTTCTTTCTGCCCAAATTCTGTG... | ATCCTATTCCATACTGTCCAGTTTTATAAGGATTTCCCTCTTTCGTGCCTTTTCCAAGATTCTGAATTCCTCTAACATCATCTTCTGTAAATGGCTGGTTGTTGTACACACAAAGTGCTGGCCCTTGCAATGGGGCCCACTTATCATCAAATATTCTATCAACTGGATGCTGTCTAGGATCAAACACAAAACAGATTTCTGTCGCCTTTGCATCATCAGCATTTTGAAGAAGCTCTTTCAACATTTCCTTTTCAGAAGGATATGCATTAAGGATGCTCTTAATTCTGCTGGTCAATTTTTCTTTCTGCCCAAATTCTGTG... | pathogenic | 207,250 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 23338108, gene SACS (sacsin molecular chaperone). What disease(s) is it linked to if pathogenic? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TCTGAATTCCTCTAACATCATCTTCTGTAAATGGCTGGTTGTTGTACACACAAAGTGCTGGCCCTTGCAATGGGGCCCACTTATCATCAAATATTCTATCAACTGGATGCTGTCTAGGATCAAACACAAAACAGATTTCTGTCGCCTTTGCATCATCAGCATTTTGAAGAAGCTCTTTCAACATTTCCTTTTCAGAAGGATATGCATTAAGGATGCTCTTAATTCTGCTGGTCAATTTTTCTTTCTGCCCAAATTCTGTGCCAAGTGTTGTAAAACAGACATTGGATGCATATCTTTCTAAGGCTTTGTGTCGCTTTGGG... | TCTGAATTCCTCTAACATCATCTTCTGTAAATGGCTGGTTGTTGTACACACAAAGTGCTGGCCCTTGCAATGGGGCCCACTTATCATCAAATATTCTATCAACTGGATGCTGTCTAGGATCAAACACAAAACAGATTTCTGTCGCCTTTGCATCATCAGCATTTTGAAGAAGCTCTTTCAACATTTCCTTTTCAGAAGGATATGCATTAAGGATGCTCTTAATTCTGCTGGTCAATTTTTCTTTCTGCCCAAATTCTGTGCCAAGTGTTGTAAAACAGACATTGGATGCATATCTTTCTAAGGCTTTGTGTCGCTTTGGG... | pathogenic | 207,252 |
A genetic variant on chromosome 13, position 23338130, affects the gene SACS (sacsin molecular chaperone). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TTCTGTAAATGGCTGGTTGTTGTACACACAAAGTGCTGGCCCTTGCAATGGGGCCCACTTATCATCAAATATTCTATCAACTGGATGCTGTCTAGGATCAAACACAAAACAGATTTCTGTCGCCTTTGCATCATCAGCATTTTGAAGAAGCTCTTTCAACATTTCCTTTTCAGAAGGATATGCATTAAGGATGCTCTTAATTCTGCTGGTCAATTTTTCTTTCTGCCCAAATTCTGTGCCAAGTGTTGTAAAACAGACATTGGATGCATATCTTTCTAAGGCTTTGTGTCGCTTTGGGACTGCTCCTAGTTTTACTGCTA... | TTCTGTAAATGGCTGGTTGTTGTACACACAAAGTGCTGGCCCTTGCAATGGGGCCCACTTATCATCAAATATTCTATCAACTGGATGCTGTCTAGGATCAAACACAAAACAGATTTCTGTCGCCTTTGCATCATCAGCATTTTGAAGAAGCTCTTTCAACATTTCCTTTTCAGAAGGATATGCATTAAGGATGCTCTTAATTCTGCTGGTCAATTTTTCTTTCTGCCCAAATTCTGTGCCAAGTGTTGTAAAACAGACATTGGATGCATATCTTTCTAAGGCTTTGTGTCGCTTTGGGACTGCTCCTAGTTTTACTGCTA... | pathogenic | 207,254 |
Variant in gene SACS (sacsin molecular chaperone), located at chromosome 13 position 23338167: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | GGCCCTTGCAATGGGGCCCACTTATCATCAAATATTCTATCAACTGGATGCTGTCTAGGATCAAACACAAAACAGATTTCTGTCGCCTTTGCATCATCAGCATTTTGAAGAAGCTCTTTCAACATTTCCTTTTCAGAAGGATATGCATTAAGGATGCTCTTAATTCTGCTGGTCAATTTTTCTTTCTGCCCAAATTCTGTGCCAAGTGTTGTAAAACAGACATTGGATGCATATCTTTCTAAGGCTTTGTGTCGCTTTGGGACTGCTCCTAGTTTTACTGCTACTTCCCTGGGTATGTCAGCATGACAATATTTTACAGT... | GGCCCTTGCAATGGGGCCCACTTATCATCAAATATTCTATCAACTGGATGCTGTCTAGGATCAAACACAAAACAGATTTCTGTCGCCTTTGCATCATCAGCATTTTGAAGAAGCTCTTTCAACATTTCCTTTTCAGAAGGATATGCATTAAGGATGCTCTTAATTCTGCTGGTCAATTTTTCTTTCTGCCCAAATTCTGTGCCAAGTGTTGTAAAACAGACATTGGATGCATATCTTTCTAAGGCTTTGTGTCGCTTTGGGACTGCTCCTAGTTTTACTGCTACTTCCCTGGGTATGTCAGCATGACAATATTTTACAGT... | pathogenic | 207,256 |
The genetic variant at chromosome 13, position 23338276, affecting gene SACS (sacsin molecular chaperone): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | GAAGCTCTTTCAACATTTCCTTTTCAGAAGGATATGCATTAAGGATGCTCTTAATTCTGCTGGTCAATTTTTCTTTCTGCCCAAATTCTGTGCCAAGTGTTGTAAAACAGACATTGGATGCATATCTTTCTAAGGCTTTGTGTCGCTTTGGGACTGCTCCTAGTTTTACTGCTACTTCCCTGGGTATGTCAGCATGACAATATTTTACAGTGGTATCCTTTACTTTTATCCAAGGGCAATCATTGTAGCATAACGATTTAGCAGGGAGAAGCATAAGATTAGTATCTGGCAATAATATCTTGCCATAATTTTTCTCACAA... | GAAGCTCTTTCAACATTTCCTTTTCAGAAGGATATGCATTAAGGATGCTCTTAATTCTGCTGGTCAATTTTTCTTTCTGCCCAAATTCTGTGCCAAGTGTTGTAAAACAGACATTGGATGCATATCTTTCTAAGGCTTTGTGTCGCTTTGGGACTGCTCCTAGTTTTACTGCTACTTCCCTGGGTATGTCAGCATGACAATATTTTACAGTGGTATCCTTTACTTTTATCCAAGGGCAATCATTGTAGCATAACGATTTAGCAGGGAGAAGCATAAGATTAGTATCTGGCAATAATATCTTGCCATAATTTTTCTCACAA... | pathogenic | 207,258 |
Is the variant located on chromosome 13 at position 23338426, gene SACS (sacsin molecular chaperone), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | GGACTGCTCCTAGTTTTACTGCTACTTCCCTGGGTATGTCAGCATGACAATATTTTACAGTGGTATCCTTTACTTTTATCCAAGGGCAATCATTGTAGCATAACGATTTAGCAGGGAGAAGCATAAGATTAGTATCTGGCAATAATATCTTGCCATAATTTTTCTCACAAAATTCTTGTTTCTTTTCTCTAATGAGACTCCATATTCCTTCACTGATTATTCGTCGGCAAAGCTGAAAATTCTCTTCTGTTATTTGCTTTGTTCCTCTTTCTTGATCAATAGATTCCAAAACAAGAGCAAAATCTTCAACAGTGCATGAC... | GGACTGCTCCTAGTTTTACTGCTACTTCCCTGGGTATGTCAGCATGACAATATTTTACAGTGGTATCCTTTACTTTTATCCAAGGGCAATCATTGTAGCATAACGATTTAGCAGGGAGAAGCATAAGATTAGTATCTGGCAATAATATCTTGCCATAATTTTTCTCACAAAATTCTTGTTTCTTTTCTCTAATGAGACTCCATATTCCTTCACTGATTATTCGTCGGCAAAGCTGAAAATTCTCTTCTGTTATTTGCTTTGTTCCTCTTTCTTGATCAATAGATTCCAAAACAAGAGCAAAATCTTCAACAGTGCATGAC... | pathogenic | 207,262 |
Determine whether the variant at chromosome 13, position 23338467, in gene SACS (sacsin molecular chaperone) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | GCATGACAATATTTTACAGTGGTATCCTTTACTTTTATCCAAGGGCAATCATTGTAGCATAACGATTTAGCAGGGAGAAGCATAAGATTAGTATCTGGCAATAATATCTTGCCATAATTTTTCTCACAAAATTCTTGTTTCTTTTCTCTAATGAGACTCCATATTCCTTCACTGATTATTCGTCGGCAAAGCTGAAAATTCTCTTCTGTTATTTGCTTTGTTCCTCTTTCTTGATCAATAGATTCCAAAACAAGAGCAAAATCTTCAACAGTGCATGACTGCCTCACACCCACGGTTTCAAAAAGTTCGCGGAAATTATT... | GCATGACAATATTTTACAGTGGTATCCTTTACTTTTATCCAAGGGCAATCATTGTAGCATAACGATTTAGCAGGGAGAAGCATAAGATTAGTATCTGGCAATAATATCTTGCCATAATTTTTCTCACAAAATTCTTGTTTCTTTTCTCTAATGAGACTCCATATTCCTTCACTGATTATTCGTCGGCAAAGCTGAAAATTCTCTTCTGTTATTTGCTTTGTTCCTCTTTCTTGATCAATAGATTCCAAAACAAGAGCAAAATCTTCAACAGTGCATGACTGCCTCACACCCACGGTTTCAAAAAGTTCGCGGAAATTATT... | pathogenic | 207,265 |
Mutation at chromosome 13, position 23338496, within SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TACTTTTATCCAAGGGCAATCATTGTAGCATAACGATTTAGCAGGGAGAAGCATAAGATTAGTATCTGGCAATAATATCTTGCCATAATTTTTCTCACAAAATTCTTGTTTCTTTTCTCTAATGAGACTCCATATTCCTTCACTGATTATTCGTCGGCAAAGCTGAAAATTCTCTTCTGTTATTTGCTTTGTTCCTCTTTCTTGATCAATAGATTCCAAAACAAGAGCAAAATCTTCAACAGTGCATGACTGCCTCACACCCACGGTTTCAAAAAGTTCGCGGAAATTATTTTTATACTTATTAGGCAACTGATAAAGGT... | TACTTTTATCCAAGGGCAATCATTGTAGCATAACGATTTAGCAGGGAGAAGCATAAGATTAGTATCTGGCAATAATATCTTGCCATAATTTTTCTCACAAAATTCTTGTTTCTTTTCTCTAATGAGACTCCATATTCCTTCACTGATTATTCGTCGGCAAAGCTGAAAATTCTCTTCTGTTATTTGCTTTGTTCCTCTTTCTTGATCAATAGATTCCAAAACAAGAGCAAAATCTTCAACAGTGCATGACTGCCTCACACCCACGGTTTCAAAAAGTTCGCGGAAATTATTTTTATACTTATTAGGCAACTGATAAAGGT... | pathogenic | 207,266 |
A mutation at chromosome position 23338724 on chromosome 13 in gene SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Hereditary_spastic_paraplegia', 'Inborn_genetic_diseases', 'Spastic_paraplegia'] | AAAATCTTCAACAGTGCATGACTGCCTCACACCCACGGTTTCAAAAAGTTCGCGGAAATTATTTTTATACTTATTAGGCAACTGATAAAGGTATGGTGCCGCCTCAAAATTTAAATGAAAAGAAACCTTTTCTGAGTCAACATATGCATTCTCAACTAGAATGAAGCTAAAGGGTTTTAACTTATCAATAATTGACATCTTAGTGATTTCATTTTGCATCAAGGCTTCATGAAGGTATTTGTAGCAAGCATTGGTGATATTCTCCTGGTACAGTGTAATTCCATCATCAACTGATTTTGCTACTTCTTTCAATTGGTTTA... | AAAATCTTCAACAGTGCATGACTGCCTCACACCCACGGTTTCAAAAAGTTCGCGGAAATTATTTTTATACTTATTAGGCAACTGATAAAGGTATGGTGCCGCCTCAAAATTTAAATGAAAAGAAACCTTTTCTGAGTCAACATATGCATTCTCAACTAGAATGAAGCTAAAGGGTTTTAACTTATCAATAATTGACATCTTAGTGATTTCATTTTGCATCAAGGCTTCATGAAGGTATTTGTAGCAAGCATTGGTGATATTCTCCTGGTACAGTGTAATTCCATCATCAACTGATTTTGCTACTTCTTTCAATTGGTTTA... | pathogenic | 207,270 |
Is the genetic variant on chromosome 13, position 23338724, gene SACS (sacsin molecular chaperone), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | AAAATCTTCAACAGTGCATGACTGCCTCACACCCACGGTTTCAAAAAGTTCGCGGAAATTATTTTTATACTTATTAGGCAACTGATAAAGGTATGGTGCCGCCTCAAAATTTAAATGAAAAGAAACCTTTTCTGAGTCAACATATGCATTCTCAACTAGAATGAAGCTAAAGGGTTTTAACTTATCAATAATTGACATCTTAGTGATTTCATTTTGCATCAAGGCTTCATGAAGGTATTTGTAGCAAGCATTGGTGATATTCTCCTGGTACAGTGTAATTCCATCATCAACTGATTTTGCTACTTCTTTCAATTGGTTTA... | AAAATCTTCAACAGTGCATGACTGCCTCACACCCACGGTTTCAAAAAGTTCGCGGAAATTATTTTTATACTTATTAGGCAACTGATAAAGGTATGGTGCCGCCTCAAAATTTAAATGAAAAGAAACCTTTTCTGAGTCAACATATGCATTCTCAACTAGAATGAAGCTAAAGGGTTTTAACTTATCAATAATTGACATCTTAGTGATTTCATTTTGCATCAAGGCTTCATGAAGGTATTTGTAGCAAGCATTGGTGATATTCTCCTGGTACAGTGTAATTCCATCATCAACTGATTTTGCTACTTCTTTCAATTGGTTTA... | pathogenic | 207,271 |
For chromosome 13, position 23338809, gene SACS (sacsin molecular chaperone): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TAAAGGTATGGTGCCGCCTCAAAATTTAAATGAAAAGAAACCTTTTCTGAGTCAACATATGCATTCTCAACTAGAATGAAGCTAAAGGGTTTTAACTTATCAATAATTGACATCTTAGTGATTTCATTTTGCATCAAGGCTTCATGAAGGTATTTGTAGCAAGCATTGGTGATATTCTCCTGGTACAGTGTAATTCCATCATCAACTGATTTTGCTACTTCTTTCAATTGGTTTATAACCAGATCAACTGTTGGCTTCTTGAGTAATCCCAAAAACTCTTTAACAGCCAATGACACTGAACCACAACCTCTAAAAGAATG... | TAAAGGTATGGTGCCGCCTCAAAATTTAAATGAAAAGAAACCTTTTCTGAGTCAACATATGCATTCTCAACTAGAATGAAGCTAAAGGGTTTTAACTTATCAATAATTGACATCTTAGTGATTTCATTTTGCATCAAGGCTTCATGAAGGTATTTGTAGCAAGCATTGGTGATATTCTCCTGGTACAGTGTAATTCCATCATCAACTGATTTTGCTACTTCTTTCAATTGGTTTATAACCAGATCAACTGTTGGCTTCTTGAGTAATCCCAAAAACTCTTTAACAGCCAATGACACTGAACCACAACCTCTAAAAGAATG... | pathogenic | 207,275 |
Evaluate if the mutation on chromosome 13 at position 23338864 in SACS (sacsin molecular chaperone) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | CATATGCATTCTCAACTAGAATGAAGCTAAAGGGTTTTAACTTATCAATAATTGACATCTTAGTGATTTCATTTTGCATCAAGGCTTCATGAAGGTATTTGTAGCAAGCATTGGTGATATTCTCCTGGTACAGTGTAATTCCATCATCAACTGATTTTGCTACTTCTTTCAATTGGTTTATAACCAGATCAACTGTTGGCTTCTTGAGTAATCCCAAAAACTCTTTAACAGCCAATGACACTGAACCACAACCTCTAAAAGAATGGGAATTTTCATTTAGAATTGGTTGCAAAAGACAAACTATATCTTGATGTTCAGCT... | CATATGCATTCTCAACTAGAATGAAGCTAAAGGGTTTTAACTTATCAATAATTGACATCTTAGTGATTTCATTTTGCATCAAGGCTTCATGAAGGTATTTGTAGCAAGCATTGGTGATATTCTCCTGGTACAGTGTAATTCCATCATCAACTGATTTTGCTACTTCTTTCAATTGGTTTATAACCAGATCAACTGTTGGCTTCTTGAGTAATCCCAAAAACTCTTTAACAGCCAATGACACTGAACCACAACCTCTAAAAGAATGGGAATTTTCATTTAGAATTGGTTGCAAAAGACAAACTATATCTTGATGTTCAGCT... | pathogenic | 207,276 |
Is the genetic variant on chromosome 13, position 23338978, gene SACS (sacsin molecular chaperone), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | TGATATTCTCCTGGTACAGTGTAATTCCATCATCAACTGATTTTGCTACTTCTTTCAATTGGTTTATAACCAGATCAACTGTTGGCTTCTTGAGTAATCCCAAAAACTCTTTAACAGCCAATGACACTGAACCACAACCTCTAAAAGAATGGGAATTTTCATTTAGAATTGGTTGCAAAAGACAAACTATATCTTGATGTTCAGCTGTATAAAGGTCAGTTGCTGCAAACATGGTTTCAGGCTTAAAACTGTTGCCTTTCCAGTCCAAAGAAAAACCTGCTGGTTTTGTCAGAAATGGAAGGAAGCGGATTGTTTGATAT... | TGATATTCTCCTGGTACAGTGTAATTCCATCATCAACTGATTTTGCTACTTCTTTCAATTGGTTTATAACCAGATCAACTGTTGGCTTCTTGAGTAATCCCAAAAACTCTTTAACAGCCAATGACACTGAACCACAACCTCTAAAAGAATGGGAATTTTCATTTAGAATTGGTTGCAAAAGACAAACTATATCTTGATGTTCAGCTGTATAAAGGTCAGTTGCTGCAAACATGGTTTCAGGCTTAAAACTGTTGCCTTTCCAGTCCAAAGAAAAACCTGCTGGTTTTGTCAGAAATGGAAGGAAGCGGATTGTTTGATAT... | pathogenic | 207,281 |
The genetic variant at chromosome 13, position 23339115, affecting gene SACS (sacsin molecular chaperone): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Hereditary_spastic_paraplegia', 'Spastic_paraplegia'] | CCTCTAAAAGAATGGGAATTTTCATTTAGAATTGGTTGCAAAAGACAAACTATATCTTGATGTTCAGCTGTATAAAGGTCAGTTGCTGCAAACATGGTTTCAGGCTTAAAACTGTTGCCTTTCCAGTCCAAAGAAAAACCTGCTGGTTTTGTCAGAAATGGAAGGAAGCGGATTGTTTGATATTTTGCAGCAAAATCCTTTGCTCTAGGATCCCTTATTTTTAGTTTCTCATCGATAAGACTCAATAAGATACTACTTCTTAGGCATGCAGCAACATGATCACTTTTATTAATTTCAGCTACTGACACTGCACGTTCTAG... | CCTCTAAAAGAATGGGAATTTTCATTTAGAATTGGTTGCAAAAGACAAACTATATCTTGATGTTCAGCTGTATAAAGGTCAGTTGCTGCAAACATGGTTTCAGGCTTAAAACTGTTGCCTTTCCAGTCCAAAGAAAAACCTGCTGGTTTTGTCAGAAATGGAAGGAAGCGGATTGTTTGATATTTTGCAGCAAAATCCTTTGCTCTAGGATCCCTTATTTTTAGTTTCTCATCGATAAGACTCAATAAGATACTACTTCTTAGGCATGCAGCAACATGATCACTTTTATTAATTTCAGCTACTGACACTGCACGTTCTAG... | pathogenic | 207,282 |
The chromosome 13, position 23339307 genetic variant in gene SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | AAATCCTTTGCTCTAGGATCCCTTATTTTTAGTTTCTCATCGATAAGACTCAATAAGATACTACTTCTTAGGCATGCAGCAACATGATCACTTTTATTAATTTCAGCTACTGACACTGCACGTTCTAGCATATCATCCCATAAAATATCATCTTTTGCCATACCTAACTGAACTAGTTTAATCAAAATAATAGGATTGAGATAATCCTGAGTAGAACCATAAGGGAATCTCCCATCTTTAATATCAAATAACTTTGCAACTCGTCCTTCGGGGTGGATCAATCTTGATGGCAAAACCAAAGGATGCCCCTCCAAGGAACA... | AAATCCTTTGCTCTAGGATCCCTTATTTTTAGTTTCTCATCGATAAGACTCAATAAGATACTACTTCTTAGGCATGCAGCAACATGATCACTTTTATTAATTTCAGCTACTGACACTGCACGTTCTAGCATATCATCCCATAAAATATCATCTTTTGCCATACCTAACTGAACTAGTTTAATCAAAATAATAGGATTGAGATAATCCTGAGTAGAACCATAAGGGAATCTCCCATCTTTAATATCAAATAACTTTGCAACTCGTCCTTCGGGGTGGATCAATCTTGATGGCAAAACCAAAGGATGCCCCTCCAAGGAACA... | pathogenic | 207,288 |
Clinical significance of chromosome 13, position 23339353, gene SACS (sacsin molecular chaperone): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | GACTCAATAAGATACTACTTCTTAGGCATGCAGCAACATGATCACTTTTATTAATTTCAGCTACTGACACTGCACGTTCTAGCATATCATCCCATAAAATATCATCTTTTGCCATACCTAACTGAACTAGTTTAATCAAAATAATAGGATTGAGATAATCCTGAGTAGAACCATAAGGGAATCTCCCATCTTTAATATCAAATAACTTTGCAACTCGTCCTTCGGGGTGGATCAATCTTGATGGCAAAACCAAAGGATGCCCCTCCAAGGAACAAGGAATACATGGAGTAACACGAAGAACTCCCGAGAACTCATCAACT... | GACTCAATAAGATACTACTTCTTAGGCATGCAGCAACATGATCACTTTTATTAATTTCAGCTACTGACACTGCACGTTCTAGCATATCATCCCATAAAATATCATCTTTTGCCATACCTAACTGAACTAGTTTAATCAAAATAATAGGATTGAGATAATCCTGAGTAGAACCATAAGGGAATCTCCCATCTTTAATATCAAATAACTTTGCAACTCGTCCTTCGGGGTGGATCAATCTTGATGGCAAAACCAAAGGATGCCCCTCCAAGGAACAAGGAATACATGGAGTAACACGAAGAACTCCCGAGAACTCATCAACT... | pathogenic | 207,289 |
A genetic variant on chromosome 13, position 23339377, affects the gene SACS (sacsin molecular chaperone). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | GGCATGCAGCAACATGATCACTTTTATTAATTTCAGCTACTGACACTGCACGTTCTAGCATATCATCCCATAAAATATCATCTTTTGCCATACCTAACTGAACTAGTTTAATCAAAATAATAGGATTGAGATAATCCTGAGTAGAACCATAAGGGAATCTCCCATCTTTAATATCAAATAACTTTGCAACTCGTCCTTCGGGGTGGATCAATCTTGATGGCAAAACCAAAGGATGCCCCTCCAAGGAACAAGGAATACATGGAGTAACACGAAGAACTCCCGAGAACTCATCAACTTTTTCATTTAGAACAAAGATCATT... | GGCATGCAGCAACATGATCACTTTTATTAATTTCAGCTACTGACACTGCACGTTCTAGCATATCATCCCATAAAATATCATCTTTTGCCATACCTAACTGAACTAGTTTAATCAAAATAATAGGATTGAGATAATCCTGAGTAGAACCATAAGGGAATCTCCCATCTTTAATATCAAATAACTTTGCAACTCGTCCTTCGGGGTGGATCAATCTTGATGGCAAAACCAAAGGATGCCCCTCCAAGGAACAAGGAATACATGGAGTAACACGAAGAACTCCCGAGAACTCATCAACTTTTTCATTTAGAACAAAGATCATT... | pathogenic | 207,290 |
Variant in SACS (sacsin molecular chaperone), chromosome 13, position 23339707—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | TAAGTTCTGCTTCAATTTCTTGAATATTTGGAAAAAACACTTCAGAAAAAAACTGTTTCTCTGAAAATGTGTTTTCAAGTAGTATCTGTTTGCAGCCAGCTTCTTCAAATCCTAATTTTACCGAAGAAGGAAGTTCAACAGCACAAAGGTTTTTGGACCCAGTCTTCTTGAGGTATTTCAAAAATATCTTGAAGGCTGCTGAACCAACATCTCTTCTTTTAAGTATAGAGTCATCTAGAAATCTTACGTTCTTCATGGAAACCCAAGTAGATCCATCAGAGAAGACTTTGGTCAGTTCTTTCCCTTTTCCATGAGCTATA... | TAAGTTCTGCTTCAATTTCTTGAATATTTGGAAAAAACACTTCAGAAAAAAACTGTTTCTCTGAAAATGTGTTTTCAAGTAGTATCTGTTTGCAGCCAGCTTCTTCAAATCCTAATTTTACCGAAGAAGGAAGTTCAACAGCACAAAGGTTTTTGGACCCAGTCTTCTTGAGGTATTTCAAAAATATCTTGAAGGCTGCTGAACCAACATCTCTTCTTTTAAGTATAGAGTCATCTAGAAATCTTACGTTCTTCATGGAAACCCAAGTAGATCCATCAGAGAAGACTTTGGTCAGTTCTTTCCCTTTTCCATGAGCTATA... | pathogenic | 207,294 |
The chromosome 13, position 23339758 genetic variant in gene SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, indicate disease(s). | benign | ACTGTTTCTCTGAAAATGTGTTTTCAAGTAGTATCTGTTTGCAGCCAGCTTCTTCAAATCCTAATTTTACCGAAGAAGGAAGTTCAACAGCACAAAGGTTTTTGGACCCAGTCTTCTTGAGGTATTTCAAAAATATCTTGAAGGCTGCTGAACCAACATCTCTTCTTTTAAGTATAGAGTCATCTAGAAATCTTACGTTCTTCATGGAAACCCAAGTAGATCCATCAGAGAAGACTTTGGTCAGTTCTTTCCCTTTTCCATGAGCTATATCTTCATAAAATCCTTGGCAAATTACAGAAAAATCATCATGAACTAAATCA... | ACTGTTTCTCTGAAAATGTGTTTTCAAGTAGTATCTGTTTGCAGCCAGCTTCTTCAAATCCTAATTTTACCGAAGAAGGAAGTTCAACAGCACAAAGGTTTTTGGACCCAGTCTTCTTGAGGTATTTCAAAAATATCTTGAAGGCTGCTGAACCAACATCTCTTCTTTTAAGTATAGAGTCATCTAGAAATCTTACGTTCTTCATGGAAACCCAAGTAGATCCATCAGAGAAGACTTTGGTCAGTTCTTTCCCTTTTCCATGAGCTATATCTTCATAAAATCCTTGGCAAATTACAGAAAAATCATCATGAACTAAATCA... | benign | 207,295 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 23340519, gene SACS (sacsin molecular chaperone): what disease(s) if pathogenic? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Inborn_genetic_diseases', 'Spastic_paraplegia'] | TTTGATTGGCCAGACTTAGCCATTTCAAAGAGAGCAGCTGGGTCATCATCTGGACCTCTAAAAAGTGGCGACTGTAAATCAGCAATCCTTCTGAACACATGGTGAAATTCTTCCACTGTGATCTGAAGAATGCAAGATGACTTTGGTTCATCACTGGGAAGCTTTTTATTACTGCTGCTGCAAGTCTTCATGAGCTTAGCAGCCTCTTTTAAAACACTTAAGACAGGTGTGTTCAATGCTTTGGAAGAGCAGGATTTTTTTTTAATTATTACTGTATCTTGTGCTAAACTGGGGTTGGTTTCCTCAATTTTCAAGTACTT... | TTTGATTGGCCAGACTTAGCCATTTCAAAGAGAGCAGCTGGGTCATCATCTGGACCTCTAAAAAGTGGCGACTGTAAATCAGCAATCCTTCTGAACACATGGTGAAATTCTTCCACTGTGATCTGAAGAATGCAAGATGACTTTGGTTCATCACTGGGAAGCTTTTTATTACTGCTGCTGCAAGTCTTCATGAGCTTAGCAGCCTCTTTTAAAACACTTAAGACAGGTGTGTTCAATGCTTTGGAAGAGCAGGATTTTTTTTTAATTATTACTGTATCTTGTGCTAAACTGGGGTTGGTTTCCTCAATTTTCAAGTACTT... | pathogenic | 207,306 |
For chromosome 13, position 23340547, gene SACS (sacsin molecular chaperone): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | AGAGAGCAGCTGGGTCATCATCTGGACCTCTAAAAAGTGGCGACTGTAAATCAGCAATCCTTCTGAACACATGGTGAAATTCTTCCACTGTGATCTGAAGAATGCAAGATGACTTTGGTTCATCACTGGGAAGCTTTTTATTACTGCTGCTGCAAGTCTTCATGAGCTTAGCAGCCTCTTTTAAAACACTTAAGACAGGTGTGTTCAATGCTTTGGAAGAGCAGGATTTTTTTTTAATTATTACTGTATCTTGTGCTAAACTGGGGTTGGTTTCCTCAATTTTCAAGTACTTCAAATACATTGACTTTACACTCTGAGTG... | AGAGAGCAGCTGGGTCATCATCTGGACCTCTAAAAAGTGGCGACTGTAAATCAGCAATCCTTCTGAACACATGGTGAAATTCTTCCACTGTGATCTGAAGAATGCAAGATGACTTTGGTTCATCACTGGGAAGCTTTTTATTACTGCTGCTGCAAGTCTTCATGAGCTTAGCAGCCTCTTTTAAAACACTTAAGACAGGTGTGTTCAATGCTTTGGAAGAGCAGGATTTTTTTTTAATTATTACTGTATCTTGTGCTAAACTGGGGTTGGTTTCCTCAATTTTCAAGTACTTCAAATACATTGACTTTACACTCTGAGTG... | pathogenic | 207,307 |
Determine whether the variant at chromosome 13, position 23340566, in gene SACS (sacsin molecular chaperone) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Spastic_paraplegia'] | ATCTGGACCTCTAAAAAGTGGCGACTGTAAATCAGCAATCCTTCTGAACACATGGTGAAATTCTTCCACTGTGATCTGAAGAATGCAAGATGACTTTGGTTCATCACTGGGAAGCTTTTTATTACTGCTGCTGCAAGTCTTCATGAGCTTAGCAGCCTCTTTTAAAACACTTAAGACAGGTGTGTTCAATGCTTTGGAAGAGCAGGATTTTTTTTTAATTATTACTGTATCTTGTGCTAAACTGGGGTTGGTTTCCTCAATTTTCAAGTACTTCAAATACATTGACTTTACACTCTGAGTGAAAATGATAAGCCTGTGTC... | ATCTGGACCTCTAAAAAGTGGCGACTGTAAATCAGCAATCCTTCTGAACACATGGTGAAATTCTTCCACTGTGATCTGAAGAATGCAAGATGACTTTGGTTCATCACTGGGAAGCTTTTTATTACTGCTGCTGCAAGTCTTCATGAGCTTAGCAGCCTCTTTTAAAACACTTAAGACAGGTGTGTTCAATGCTTTGGAAGAGCAGGATTTTTTTTTAATTATTACTGTATCTTGTGCTAAACTGGGGTTGGTTTCCTCAATTTTCAAGTACTTCAAATACATTGACTTTACACTCTGAGTGAAAATGATAAGCCTGTGTC... | pathogenic | 207,308 |
For chromosome 13, position 23340594, gene SACS (sacsin molecular chaperone): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Abnormal_central_motor_function', 'Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | AAATCAGCAATCCTTCTGAACACATGGTGAAATTCTTCCACTGTGATCTGAAGAATGCAAGATGACTTTGGTTCATCACTGGGAAGCTTTTTATTACTGCTGCTGCAAGTCTTCATGAGCTTAGCAGCCTCTTTTAAAACACTTAAGACAGGTGTGTTCAATGCTTTGGAAGAGCAGGATTTTTTTTTAATTATTACTGTATCTTGTGCTAAACTGGGGTTGGTTTCCTCAATTTTCAAGTACTTCAAATACATTGACTTTACACTCTGAGTGAAAATGATAAGCCTGTGTCCACAGAGACTAAATTCATCCACAAGAGA... | AAATCAGCAATCCTTCTGAACACATGGTGAAATTCTTCCACTGTGATCTGAAGAATGCAAGATGACTTTGGTTCATCACTGGGAAGCTTTTTATTACTGCTGCTGCAAGTCTTCATGAGCTTAGCAGCCTCTTTTAAAACACTTAAGACAGGTGTGTTCAATGCTTTGGAAGAGCAGGATTTTTTTTTAATTATTACTGTATCTTGTGCTAAACTGGGGTTGGTTTCCTCAATTTTCAAGTACTTCAAATACATTGACTTTACACTCTGAGTGAAAATGATAAGCCTGTGTCCACAGAGACTAAATTCATCCACAAGAGA... | pathogenic | 207,309 |
Does the variant on chromosome 13 at location 23340809 affecting gene SACS (sacsin molecular chaperone) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Inborn_genetic_diseases'] | GGGGTTGGTTTCCTCAATTTTCAAGTACTTCAAATACATTGACTTTACACTCTGAGTGAAAATGATAAGCCTGTGTCCACAGAGACTAAATTCATCCACAAGAGAATAAATATCTGCTGTATTGTAGCACGTACTACTAACTTCACTCACTTTTGCTTCCTGTTGAGTTCTAAAGGACAGTCGGAAAAGGGTTCCATTATAGCTGTAAGGTGCTTCTACAGTCAAAGGTAACTGACAGCCAAATACATCTATAAATGGTTTGAACTGATTAGGAAATTTTCTAAGTCTTTTCTGTTGTTTACTCCAATTAATTTTGATCC... | GGGGTTGGTTTCCTCAATTTTCAAGTACTTCAAATACATTGACTTTACACTCTGAGTGAAAATGATAAGCCTGTGTCCACAGAGACTAAATTCATCCACAAGAGAATAAATATCTGCTGTATTGTAGCACGTACTACTAACTTCACTCACTTTTGCTTCCTGTTGAGTTCTAAAGGACAGTCGGAAAAGGGTTCCATTATAGCTGTAAGGTGCTTCTACAGTCAAAGGTAACTGACAGCCAAATACATCTATAAATGGTTTGAACTGATTAGGAAATTTTCTAAGTCTTTTCTGTTGTTTACTCCAATTAATTTTGATCC... | pathogenic | 207,311 |
Variant in SACS (sacsin molecular chaperone), chromosome 13, position 23340969—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TGTTGAGTTCTAAAGGACAGTCGGAAAAGGGTTCCATTATAGCTGTAAGGTGCTTCTACAGTCAAAGGTAACTGACAGCCAAATACATCTATAAATGGTTTGAACTGATTAGGAAATTTTCTAAGTCTTTTCTGTTGTTTACTCCAATTAATTTTGATCCCAGGATTGGATTTGTCTTTAATGTGTTTACTGATATGATTTATGTTTGGATCGAACATTATCATGAATTCCCGACTCATAATGATGGGAATGTCAGTGATATGGTACACAGAATTAAATCCAAGACCAAATTTTCCAACTTTGTCAACTTCTCCCCTTTT... | TGTTGAGTTCTAAAGGACAGTCGGAAAAGGGTTCCATTATAGCTGTAAGGTGCTTCTACAGTCAAAGGTAACTGACAGCCAAATACATCTATAAATGGTTTGAACTGATTAGGAAATTTTCTAAGTCTTTTCTGTTGTTTACTCCAATTAATTTTGATCCCAGGATTGGATTTGTCTTTAATGTGTTTACTGATATGATTTATGTTTGGATCGAACATTATCATGAATTCCCGACTCATAATGATGGGAATGTCAGTGATATGGTACACAGAATTAAATCCAAGACCAAATTTTCCAACTTTGTCAACTTCTCCCCTTTT... | pathogenic | 207,315 |
The chromosome 13, position 23340988 genetic variant in gene SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | GTCGGAAAAGGGTTCCATTATAGCTGTAAGGTGCTTCTACAGTCAAAGGTAACTGACAGCCAAATACATCTATAAATGGTTTGAACTGATTAGGAAATTTTCTAAGTCTTTTCTGTTGTTTACTCCAATTAATTTTGATCCCAGGATTGGATTTGTCTTTAATGTGTTTACTGATATGATTTATGTTTGGATCGAACATTATCATGAATTCCCGACTCATAATGATGGGAATGTCAGTGATATGGTACACAGAATTAAATCCAAGACCAAATTTTCCAACTTTGTCAACTTCTCCCCTTTTTAAAGATTCTCCTAACCTA... | GTCGGAAAAGGGTTCCATTATAGCTGTAAGGTGCTTCTACAGTCAAAGGTAACTGACAGCCAAATACATCTATAAATGGTTTGAACTGATTAGGAAATTTTCTAAGTCTTTTCTGTTGTTTACTCCAATTAATTTTGATCCCAGGATTGGATTTGTCTTTAATGTGTTTACTGATATGATTTATGTTTGGATCGAACATTATCATGAATTCCCGACTCATAATGATGGGAATGTCAGTGATATGGTACACAGAATTAAATCCAAGACCAAATTTTCCAACTTTGTCAACTTCTCCCCTTTTTAAAGATTCTCCTAACCTA... | pathogenic | 207,316 |
Variant on chromosome 13, at position 23341005, affecting SACS (sacsin molecular chaperone): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | TTATAGCTGTAAGGTGCTTCTACAGTCAAAGGTAACTGACAGCCAAATACATCTATAAATGGTTTGAACTGATTAGGAAATTTTCTAAGTCTTTTCTGTTGTTTACTCCAATTAATTTTGATCCCAGGATTGGATTTGTCTTTAATGTGTTTACTGATATGATTTATGTTTGGATCGAACATTATCATGAATTCCCGACTCATAATGATGGGAATGTCAGTGATATGGTACACAGAATTAAATCCAAGACCAAATTTTCCAACTTTGTCAACTTCTCCCCTTTTTAAAGATTCTCCTAACCTAGTTATGTTCACAAAATC... | TTATAGCTGTAAGGTGCTTCTACAGTCAAAGGTAACTGACAGCCAAATACATCTATAAATGGTTTGAACTGATTAGGAAATTTTCTAAGTCTTTTCTGTTGTTTACTCCAATTAATTTTGATCCCAGGATTGGATTTGTCTTTAATGTGTTTACTGATATGATTTATGTTTGGATCGAACATTATCATGAATTCCCGACTCATAATGATGGGAATGTCAGTGATATGGTACACAGAATTAAATCCAAGACCAAATTTTCCAACTTTGTCAACTTCTCCCCTTTTTAAAGATTCTCCTAACCTAGTTATGTTCACAAAATC... | pathogenic | 207,318 |
Considering the genetic mutation at chromosome 13, position 23341120, impacting SACS (sacsin molecular chaperone): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TTTTGATCCCAGGATTGGATTTGTCTTTAATGTGTTTACTGATATGATTTATGTTTGGATCGAACATTATCATGAATTCCCGACTCATAATGATGGGAATGTCAGTGATATGGTACACAGAATTAAATCCAAGACCAAATTTTCCAACTTTGTCAACTTCTCCCCTTTTTAAAGATTCTCCTAACCTAGTTATGTTCACAAAATCTGAATCTGAGAATTGAGAATTGTTGAATGACCACAAAGCAGGTCCATGACAAGCTGCCATCCCTGGGTCTAGGAGATTCTCTCTTATGTCCATATTTCTTCTCATATCAATCAAG... | TTTTGATCCCAGGATTGGATTTGTCTTTAATGTGTTTACTGATATGATTTATGTTTGGATCGAACATTATCATGAATTCCCGACTCATAATGATGGGAATGTCAGTGATATGGTACACAGAATTAAATCCAAGACCAAATTTTCCAACTTTGTCAACTTCTCCCCTTTTTAAAGATTCTCCTAACCTAGTTATGTTCACAAAATCTGAATCTGAGAATTGAGAATTGTTGAATGACCACAAAGCAGGTCCATGACAAGCTGCCATCCCTGGGTCTAGGAGATTCTCTCTTATGTCCATATTTCTTCTCATATCAATCAAG... | pathogenic | 207,319 |
Variant in SACS (sacsin molecular chaperone), chromosome 13, position 23341175—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TGGATCGAACATTATCATGAATTCCCGACTCATAATGATGGGAATGTCAGTGATATGGTACACAGAATTAAATCCAAGACCAAATTTTCCAACTTTGTCAACTTCTCCCCTTTTTAAAGATTCTCCTAACCTAGTTATGTTCACAAAATCTGAATCTGAGAATTGAGAATTGTTGAATGACCACAAAGCAGGTCCATGACAAGCTGCCATCCCTGGGTCTAGGAGATTCTCTCTTATGTCCATATTTCTTCTCATATCAATCAAGAAACTGCATTCTGTTGCATTTGCATCATCAGCGTTTTGAAGTAGTTCTTTAAAAA... | TGGATCGAACATTATCATGAATTCCCGACTCATAATGATGGGAATGTCAGTGATATGGTACACAGAATTAAATCCAAGACCAAATTTTCCAACTTTGTCAACTTCTCCCCTTTTTAAAGATTCTCCTAACCTAGTTATGTTCACAAAATCTGAATCTGAGAATTGAGAATTGTTGAATGACCACAAAGCAGGTCCATGACAAGCTGCCATCCCTGGGTCTAGGAGATTCTCTCTTATGTCCATATTTCTTCTCATATCAATCAAGAAACTGCATTCTGTTGCATTTGCATCATCAGCGTTTTGAAGTAGTTCTTTAAAAA... | pathogenic | 207,322 |
The mutation in gene SACS (sacsin molecular chaperone) at chromosome 13, position 23341435—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Abnormal_central_motor_function', 'Charlevoix-Saguenay_spastic_ataxia', 'SACS-related_disorder', 'Spastic_paraplegia'] | TCAAGAAACTGCATTCTGTTGCATTTGCATCATCAGCGTTTTGAAGTAGTTCTTTAAAAATATCTGACACTGAAGGGTATTCTTCCAGAATATTTTTAATTCTTACAGTAAGTGGCTCTCTTTGTCCTGACTGCTCAAATCCCATGTTTTCAGGATTTATCAGTCTTGTACTAAGGCATGGAACTTTTAGCCATTCTGCAGTTTTCATGGGTATGTCCTCATGCACCAAAATGATTGGTTCCACAGAATCTTCAAGTAAGTCATTAAGGTCATCAACTTTAATGTCACAATAACAGCATTCGTGAATTGGCTTCATGATA... | TCAAGAAACTGCATTCTGTTGCATTTGCATCATCAGCGTTTTGAAGTAGTTCTTTAAAAATATCTGACACTGAAGGGTATTCTTCCAGAATATTTTTAATTCTTACAGTAAGTGGCTCTCTTTGTCCTGACTGCTCAAATCCCATGTTTTCAGGATTTATCAGTCTTGTACTAAGGCATGGAACTTTTAGCCATTCTGCAGTTTTCATGGGTATGTCCTCATGCACCAAAATGATTGGTTCCACAGAATCTTCAAGTAAGTCATTAAGGTCATCAACTTTAATGTCACAATAACAGCATTCGTGAATTGGCTTCATGATA... | pathogenic | 207,328 |
The chromosome 13, position 23354691 genetic variant in gene SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | AAAAAAAAAGGAGTTCCAAATCGTTAGAGCAAAGATTGGCAGGCTTATAGGAATCCAGGCTTAGACTTTCAAAAAGGTTGTTTTGAAGATGACAATTACAATTAAATGAGTAACTCAGACGTTTGAAAAGTCAGTCTCACAGCTACCAACTCATAGATGCAAATCCCTGATGGGAAACAACATTTGCCTACTCATTTTCTTTTACTCTCACTTTAACTCCAACCTAACTTGCCTCTCCCATTCCAACTCATTTCACTTATATTTTAATGAATAAAGGTGTACAATGATTAGCAACTTTCCCTAAGCCATTATCCTGGACA... | AAAAAAAAAGGAGTTCCAAATCGTTAGAGCAAAGATTGGCAGGCTTATAGGAATCCAGGCTTAGACTTTCAAAAAGGTTGTTTTGAAGATGACAATTACAATTAAATGAGTAACTCAGACGTTTGAAAAGTCAGTCTCACAGCTACCAACTCATAGATGCAAATCCCTGATGGGAAACAACATTTGCCTACTCATTTTCTTTTACTCTCACTTTAACTCCAACCTAACTTGCCTCTCCCATTCCAACTCATTTCACTTATATTTTAATGAATAAAGGTGTACAATGATTAGCAACTTTCCCTAAGCCATTATCCTGGACA... | pathogenic | 207,338 |
Clinically, how would you classify the variant at chromosome 13, position 23354742, gene SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | AATCCAGGCTTAGACTTTCAAAAAGGTTGTTTTGAAGATGACAATTACAATTAAATGAGTAACTCAGACGTTTGAAAAGTCAGTCTCACAGCTACCAACTCATAGATGCAAATCCCTGATGGGAAACAACATTTGCCTACTCATTTTCTTTTACTCTCACTTTAACTCCAACCTAACTTGCCTCTCCCATTCCAACTCATTTCACTTATATTTTAATGAATAAAGGTGTACAATGATTAGCAACTTTCCCTAAGCCATTATCCTGGACAAGAAAAAAGTACATTCCATAAAAGACACATCACAGAGTATGCTTGACAATG... | AATCCAGGCTTAGACTTTCAAAAAGGTTGTTTTGAAGATGACAATTACAATTAAATGAGTAACTCAGACGTTTGAAAAGTCAGTCTCACAGCTACCAACTCATAGATGCAAATCCCTGATGGGAAACAACATTTGCCTACTCATTTTCTTTTACTCTCACTTTAACTCCAACCTAACTTGCCTCTCCCATTCCAACTCATTTCACTTATATTTTAATGAATAAAGGTGTACAATGATTAGCAACTTTCCCTAAGCCATTATCCTGGACAAGAAAAAAGTACATTCCATAAAAGACACATCACAGAGTATGCTTGACAATG... | pathogenic | 207,340 |
Does the chromosome 13 mutation at position 23354841 within gene SACS (sacsin molecular chaperone) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TCATAGATGCAAATCCCTGATGGGAAACAACATTTGCCTACTCATTTTCTTTTACTCTCACTTTAACTCCAACCTAACTTGCCTCTCCCATTCCAACTCATTTCACTTATATTTTAATGAATAAAGGTGTACAATGATTAGCAACTTTCCCTAAGCCATTATCCTGGACAAGAAAAAAGTACATTCCATAAAAGACACATCACAGAGTATGCTTGACAATGTGAACAGCAGGACAAACCCAGAACTTTTCAGGACAACATCTCACTTAGAAAAAGCTCAGGTAACAGTTTCACAAGGAAAAGGATGCTTGCAGAAGTTGA... | TCATAGATGCAAATCCCTGATGGGAAACAACATTTGCCTACTCATTTTCTTTTACTCTCACTTTAACTCCAACCTAACTTGCCTCTCCCATTCCAACTCATTTCACTTATATTTTAATGAATAAAGGTGTACAATGATTAGCAACTTTCCCTAAGCCATTATCCTGGACAAGAAAAAAGTACATTCCATAAAAGACACATCACAGAGTATGCTTGACAATGTGAACAGCAGGACAAACCCAGAACTTTTCAGGACAACATCTCACTTAGAAAAAGCTCAGGTAACAGTTTCACAAGGAAAAGGATGCTTGCAGAAGTTGA... | pathogenic | 207,344 |
Is the genetic mutation found on chromosome 13 at position 23354984, within the gene SACS (sacsin molecular chaperone), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | ACTTTCCCTAAGCCATTATCCTGGACAAGAAAAAAGTACATTCCATAAAAGACACATCACAGAGTATGCTTGACAATGTGAACAGCAGGACAAACCCAGAACTTTTCAGGACAACATCTCACTTAGAAAAAGCTCAGGTAACAGTTTCACAAGGAAAAGGATGCTTGCAGAAGTTGAAAGGTAGTATTAAAATTAGAACCATGTTGACTGTTTTCCCAAAATTACTGTCTTTTCCTAAAAGGACACCTATCAGACACCCATCACTTTAAGACCCCCGCAAGACCCTTTTCCTGCCCCTGTTACAGAGTTAATTGGATTTG... | ACTTTCCCTAAGCCATTATCCTGGACAAGAAAAAAGTACATTCCATAAAAGACACATCACAGAGTATGCTTGACAATGTGAACAGCAGGACAAACCCAGAACTTTTCAGGACAACATCTCACTTAGAAAAAGCTCAGGTAACAGTTTCACAAGGAAAAGGATGCTTGCAGAAGTTGAAAGGTAGTATTAAAATTAGAACCATGTTGACTGTTTTCCCAAAATTACTGTCTTTTCCTAAAAGGACACCTATCAGACACCCATCACTTTAAGACCCCCGCAAGACCCTTTTCCTGCCCCTGTTACAGAGTTAATTGGATTTG... | pathogenic | 207,350 |
The mutation impacting SACS (sacsin molecular chaperone) on chromosome 13 at position 23355253: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | GACCCCCGCAAGACCCTTTTCCTGCCCCTGTTACAGAGTTAATTGGATTTGTCCACACTTCCCAGAAGCTGATCAAGCCTAATGCAAACCCAGCATCATAACTACATAAAACCATGGAGGGGCAGTGGTGTCAGAAATAGAGCAAGGACAGGGCAAGTGGAAGACCTGACCTCTCGGCACTTGGCTGGTGGTCTTGATCTTAACCTTTCTCTCTCCTCTTCTGTGAAATTTAATAATCACTGTCATTACCAAACAAGCTACAAGTTATGCTGGGAGGCTCAAATGAAAAAAGAAATGGGAAAGCACTGGAAAACTGTAAA... | GACCCCCGCAAGACCCTTTTCCTGCCCCTGTTACAGAGTTAATTGGATTTGTCCACACTTCCCAGAAGCTGATCAAGCCTAATGCAAACCCAGCATCATAACTACATAAAACCATGGAGGGGCAGTGGTGTCAGAAATAGAGCAAGGACAGGGCAAGTGGAAGACCTGACCTCTCGGCACTTGGCTGGTGGTCTTGATCTTAACCTTTCTCTCTCCTCTTCTGTGAAATTTAATAATCACTGTCATTACCAAACAAGCTACAAGTTATGCTGGGAGGCTCAAATGAAAAAAGAAATGGGAAAGCACTGGAAAACTGTAAA... | pathogenic | 207,355 |
Variant at chromosome position 23355334, chromosome 13, gene SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | ATGCAAACCCAGCATCATAACTACATAAAACCATGGAGGGGCAGTGGTGTCAGAAATAGAGCAAGGACAGGGCAAGTGGAAGACCTGACCTCTCGGCACTTGGCTGGTGGTCTTGATCTTAACCTTTCTCTCTCCTCTTCTGTGAAATTTAATAATCACTGTCATTACCAAACAAGCTACAAGTTATGCTGGGAGGCTCAAATGAAAAAAGAAATGGGAAAGCACTGGAAAACTGTAAAGCACCATGCAGGTATAAGATGTTGACTACACCATCACACCATGACAGGAGAGATTTTTACACTTATCACCTCTGGATTCTT... | ATGCAAACCCAGCATCATAACTACATAAAACCATGGAGGGGCAGTGGTGTCAGAAATAGAGCAAGGACAGGGCAAGTGGAAGACCTGACCTCTCGGCACTTGGCTGGTGGTCTTGATCTTAACCTTTCTCTCTCCTCTTCTGTGAAATTTAATAATCACTGTCATTACCAAACAAGCTACAAGTTATGCTGGGAGGCTCAAATGAAAAAAGAAATGGGAAAGCACTGGAAAACTGTAAAGCACCATGCAGGTATAAGATGTTGACTACACCATCACACCATGACAGGAGAGATTTTTACACTTATCACCTCTGGATTCTT... | pathogenic | 207,356 |
A genetic variant at chromosome 13, position 23355382, affecting gene SACS (sacsin molecular chaperone)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | GTCAGAAATAGAGCAAGGACAGGGCAAGTGGAAGACCTGACCTCTCGGCACTTGGCTGGTGGTCTTGATCTTAACCTTTCTCTCTCCTCTTCTGTGAAATTTAATAATCACTGTCATTACCAAACAAGCTACAAGTTATGCTGGGAGGCTCAAATGAAAAAAGAAATGGGAAAGCACTGGAAAACTGTAAAGCACCATGCAGGTATAAGATGTTGACTACACCATCACACCATGACAGGAGAGATTTTTACACTTATCACCTCTGGATTCTTTTAGACAGCATCTCTTAGATGCCATTCTGGCAACTGAAATATCTTAAA... | GTCAGAAATAGAGCAAGGACAGGGCAAGTGGAAGACCTGACCTCTCGGCACTTGGCTGGTGGTCTTGATCTTAACCTTTCTCTCTCCTCTTCTGTGAAATTTAATAATCACTGTCATTACCAAACAAGCTACAAGTTATGCTGGGAGGCTCAAATGAAAAAAGAAATGGGAAAGCACTGGAAAACTGTAAAGCACCATGCAGGTATAAGATGTTGACTACACCATCACACCATGACAGGAGAGATTTTTACACTTATCACCTCTGGATTCTTTTAGACAGCATCTCTTAGATGCCATTCTGGCAACTGAAATATCTTAAA... | pathogenic | 207,357 |
Does the genetic variant at chromosome 13, position 23355421, impacting gene SACS (sacsin molecular chaperone), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | ACCTCTCGGCACTTGGCTGGTGGTCTTGATCTTAACCTTTCTCTCTCCTCTTCTGTGAAATTTAATAATCACTGTCATTACCAAACAAGCTACAAGTTATGCTGGGAGGCTCAAATGAAAAAAGAAATGGGAAAGCACTGGAAAACTGTAAAGCACCATGCAGGTATAAGATGTTGACTACACCATCACACCATGACAGGAGAGATTTTTACACTTATCACCTCTGGATTCTTTTAGACAGCATCTCTTAGATGCCATTCTGGCAACTGAAATATCTTAAAACACAAAAAGTTTATTAGCTTGAGCCATAAGAAATTGTT... | ACCTCTCGGCACTTGGCTGGTGGTCTTGATCTTAACCTTTCTCTCTCCTCTTCTGTGAAATTTAATAATCACTGTCATTACCAAACAAGCTACAAGTTATGCTGGGAGGCTCAAATGAAAAAAGAAATGGGAAAGCACTGGAAAACTGTAAAGCACCATGCAGGTATAAGATGTTGACTACACCATCACACCATGACAGGAGAGATTTTTACACTTATCACCTCTGGATTCTTTTAGACAGCATCTCTTAGATGCCATTCTGGCAACTGAAATATCTTAAAACACAAAAAGTTTATTAGCTTGAGCCATAAGAAATTGTT... | pathogenic | 207,360 |
Evaluate this variant at chromosome 13, position 23355422, gene SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | CCTCTCGGCACTTGGCTGGTGGTCTTGATCTTAACCTTTCTCTCTCCTCTTCTGTGAAATTTAATAATCACTGTCATTACCAAACAAGCTACAAGTTATGCTGGGAGGCTCAAATGAAAAAAGAAATGGGAAAGCACTGGAAAACTGTAAAGCACCATGCAGGTATAAGATGTTGACTACACCATCACACCATGACAGGAGAGATTTTTACACTTATCACCTCTGGATTCTTTTAGACAGCATCTCTTAGATGCCATTCTGGCAACTGAAATATCTTAAAACACAAAAAGTTTATTAGCTTGAGCCATAAGAAATTGTTG... | CCTCTCGGCACTTGGCTGGTGGTCTTGATCTTAACCTTTCTCTCTCCTCTTCTGTGAAATTTAATAATCACTGTCATTACCAAACAAGCTACAAGTTATGCTGGGAGGCTCAAATGAAAAAAGAAATGGGAAAGCACTGGAAAACTGTAAAGCACCATGCAGGTATAAGATGTTGACTACACCATCACACCATGACAGGAGAGATTTTTACACTTATCACCTCTGGATTCTTTTAGACAGCATCTCTTAGATGCCATTCTGGCAACTGAAATATCTTAAAACACAAAAAGTTTATTAGCTTGAGCCATAAGAAATTGTTG... | pathogenic | 207,361 |
Considering the variant on chromosome 13, location 23355468, involving gene SACS (sacsin molecular chaperone), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | CTCTTCTGTGAAATTTAATAATCACTGTCATTACCAAACAAGCTACAAGTTATGCTGGGAGGCTCAAATGAAAAAAGAAATGGGAAAGCACTGGAAAACTGTAAAGCACCATGCAGGTATAAGATGTTGACTACACCATCACACCATGACAGGAGAGATTTTTACACTTATCACCTCTGGATTCTTTTAGACAGCATCTCTTAGATGCCATTCTGGCAACTGAAATATCTTAAAACACAAAAAGTTTATTAGCTTGAGCCATAAGAAATTGTTGATTTATAGGTCTAAAATGAATAACAGAAAACTTTTAAAAAACTTGT... | CTCTTCTGTGAAATTTAATAATCACTGTCATTACCAAACAAGCTACAAGTTATGCTGGGAGGCTCAAATGAAAAAAGAAATGGGAAAGCACTGGAAAACTGTAAAGCACCATGCAGGTATAAGATGTTGACTACACCATCACACCATGACAGGAGAGATTTTTACACTTATCACCTCTGGATTCTTTTAGACAGCATCTCTTAGATGCCATTCTGGCAACTGAAATATCTTAAAACACAAAAAGTTTATTAGCTTGAGCCATAAGAAATTGTTGATTTATAGGTCTAAAATGAATAACAGAAAACTTTTAAAAAACTTGT... | pathogenic | 207,363 |
Considering the genetic mutation at chromosome 13, position 23355474, impacting SACS (sacsin molecular chaperone): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | TGTGAAATTTAATAATCACTGTCATTACCAAACAAGCTACAAGTTATGCTGGGAGGCTCAAATGAAAAAAGAAATGGGAAAGCACTGGAAAACTGTAAAGCACCATGCAGGTATAAGATGTTGACTACACCATCACACCATGACAGGAGAGATTTTTACACTTATCACCTCTGGATTCTTTTAGACAGCATCTCTTAGATGCCATTCTGGCAACTGAAATATCTTAAAACACAAAAAGTTTATTAGCTTGAGCCATAAGAAATTGTTGATTTATAGGTCTAAAATGAATAACAGAAAACTTTTAAAAAACTTGTATTTTT... | TGTGAAATTTAATAATCACTGTCATTACCAAACAAGCTACAAGTTATGCTGGGAGGCTCAAATGAAAAAAGAAATGGGAAAGCACTGGAAAACTGTAAAGCACCATGCAGGTATAAGATGTTGACTACACCATCACACCATGACAGGAGAGATTTTTACACTTATCACCTCTGGATTCTTTTAGACAGCATCTCTTAGATGCCATTCTGGCAACTGAAATATCTTAAAACACAAAAAGTTTATTAGCTTGAGCCATAAGAAATTGTTGATTTATAGGTCTAAAATGAATAACAGAAAACTTTTAAAAAACTTGTATTTTT... | pathogenic | 207,364 |
Clinically, how would you classify the variant at chromosome 13, position 23355534, gene SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | AATGAAAAAAGAAATGGGAAAGCACTGGAAAACTGTAAAGCACCATGCAGGTATAAGATGTTGACTACACCATCACACCATGACAGGAGAGATTTTTACACTTATCACCTCTGGATTCTTTTAGACAGCATCTCTTAGATGCCATTCTGGCAACTGAAATATCTTAAAACACAAAAAGTTTATTAGCTTGAGCCATAAGAAATTGTTGATTTATAGGTCTAAAATGAATAACAGAAAACTTTTAAAAAACTTGTATTTTTATATAGAAGTTTATTTAAAAGAATACTAAACTATAATACCTCGGGTTTGGGCAGCTTCCT... | AATGAAAAAAGAAATGGGAAAGCACTGGAAAACTGTAAAGCACCATGCAGGTATAAGATGTTGACTACACCATCACACCATGACAGGAGAGATTTTTACACTTATCACCTCTGGATTCTTTTAGACAGCATCTCTTAGATGCCATTCTGGCAACTGAAATATCTTAAAACACAAAAAGTTTATTAGCTTGAGCCATAAGAAATTGTTGATTTATAGGTCTAAAATGAATAACAGAAAACTTTTAAAAAACTTGTATTTTTATATAGAAGTTTATTTAAAAGAATACTAAACTATAATACCTCGGGTTTGGGCAGCTTCCT... | pathogenic | 207,365 |
The genetic variant at chromosome 13, position 23355696, affecting gene SACS (sacsin molecular chaperone): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | CTTAAAACACAAAAAGTTTATTAGCTTGAGCCATAAGAAATTGTTGATTTATAGGTCTAAAATGAATAACAGAAAACTTTTAAAAAACTTGTATTTTTATATAGAAGTTTATTTAAAAGAATACTAAACTATAATACCTCGGGTTTGGGCAGCTTCCTTTAAAGCAGCCACAAGGTGAGGTTTCAAGTTATCCAAAATAAATCTTCCTTCAAGACTTGGGAAAAGGGACCTGAAAAGGGAAAGGAACAGCAATCATCATAATCTTCCCACAATTCCAAGATTTTAAAAAAACAATCACATATTTTCAAGTCAGTTAAGCC... | CTTAAAACACAAAAAGTTTATTAGCTTGAGCCATAAGAAATTGTTGATTTATAGGTCTAAAATGAATAACAGAAAACTTTTAAAAAACTTGTATTTTTATATAGAAGTTTATTTAAAAGAATACTAAACTATAATACCTCGGGTTTGGGCAGCTTCCTTTAAAGCAGCCACAAGGTGAGGTTTCAAGTTATCCAAAATAAATCTTCCTTCAAGACTTGGGAAAAGGGACCTGAAAAGGGAAAGGAACAGCAATCATCATAATCTTCCCACAATTCCAAGATTTTAAAAAAACAATCACATATTTTCAAGTCAGTTAAGCC... | pathogenic | 207,368 |
Does the chromosome 13 mutation at position 23355912 within gene SACS (sacsin molecular chaperone) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia'] | TGGGAAAAGGGACCTGAAAAGGGAAAGGAACAGCAATCATCATAATCTTCCCACAATTCCAAGATTTTAAAAAAACAATCACATATTTTCAAGTCAGTTAAGCCGACTATTTTATTTTACATAAATTATAATGCACACATCAAATCAAATTACAATATTTTTGATCAAATATTATCTAGACTTTGCTTTAAAACGTGAAGGCATCATGTACTTTACTCAAATTCAGAAATATTCTCAACATCTTACAGTAAAATTAATTTTATTTCCTGAAATGTCAGTACACTCTCGTTTATAAAGAATTACTTAATATACTATTTTTC... | TGGGAAAAGGGACCTGAAAAGGGAAAGGAACAGCAATCATCATAATCTTCCCACAATTCCAAGATTTTAAAAAAACAATCACATATTTTCAAGTCAGTTAAGCCGACTATTTTATTTTACATAAATTATAATGCACACATCAAATCAAATTACAATATTTTTGATCAAATATTATCTAGACTTTGCTTTAAAACGTGAAGGCATCATGTACTTTACTCAAATTCAGAAATATTCTCAACATCTTACAGTAAAATTAATTTTATTTCCTGAAATGTCAGTACACTCTCGTTTATAAAGAATTACTTAATATACTATTTTTC... | pathogenic | 207,374 |
Evaluate the clinical significance of the mutation at chromosome 13, position 23358467 in gene SACS (sacsin molecular chaperone): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | CAGGTGACTCTGCCCACTGTGTTGCTCAGTGAGTGCCTGCCCTGAAGCTCATGAGGTACATTCCCTCAAGGGGTCTTAACCTCTCTGCCTCTGGAGCGGAAGCACTTCTCTTGCTGGGAGCATCTCACCACGTGGAGCCTAATTACAGTATTGAAAGATACCCATCTTTTGTATAACATGGCCTCTAAATTGATACCAGCTGCTTCACCTGTTCCTCAACCAAGGACAGAGTAGTATTCAAAAACTGGCAGAAAAACCAGATGTGTGAGACCCACTGTGATGAGAGAAATTCCTCCCCAGTGTGCTTTGGTGAAGATCTC... | CAGGTGACTCTGCCCACTGTGTTGCTCAGTGAGTGCCTGCCCTGAAGCTCATGAGGTACATTCCCTCAAGGGGTCTTAACCTCTCTGCCTCTGGAGCGGAAGCACTTCTCTTGCTGGGAGCATCTCACCACGTGGAGCCTAATTACAGTATTGAAAGATACCCATCTTTTGTATAACATGGCCTCTAAATTGATACCAGCTGCTTCACCTGTTCCTCAACCAAGGACAGAGTAGTATTCAAAAACTGGCAGAAAAACCAGATGTGTGAGACCCACTGTGATGAGAGAAATTCCTCCCCAGTGTGCTTTGGTGAAGATCTC... | pathogenic | 207,382 |
Benign or pathogenic: chromosome 13, position 23358469, gene SACS (sacsin molecular chaperone) variant? Disease(s) if pathogenic? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | GGTGACTCTGCCCACTGTGTTGCTCAGTGAGTGCCTGCCCTGAAGCTCATGAGGTACATTCCCTCAAGGGGTCTTAACCTCTCTGCCTCTGGAGCGGAAGCACTTCTCTTGCTGGGAGCATCTCACCACGTGGAGCCTAATTACAGTATTGAAAGATACCCATCTTTTGTATAACATGGCCTCTAAATTGATACCAGCTGCTTCACCTGTTCCTCAACCAAGGACAGAGTAGTATTCAAAAACTGGCAGAAAAACCAGATGTGTGAGACCCACTGTGATGAGAGAAATTCCTCCCCAGTGTGCTTTGGTGAAGATCTCCC... | GGTGACTCTGCCCACTGTGTTGCTCAGTGAGTGCCTGCCCTGAAGCTCATGAGGTACATTCCCTCAAGGGGTCTTAACCTCTCTGCCTCTGGAGCGGAAGCACTTCTCTTGCTGGGAGCATCTCACCACGTGGAGCCTAATTACAGTATTGAAAGATACCCATCTTTTGTATAACATGGCCTCTAAATTGATACCAGCTGCTTCACCTGTTCCTCAACCAAGGACAGAGTAGTATTCAAAAACTGGCAGAAAAACCAGATGTGTGAGACCCACTGTGATGAGAGAAATTCCTCCCCAGTGTGCTTTGGTGAAGATCTCCC... | pathogenic | 207,383 |
Gene SACS (sacsin molecular chaperone) variant at chromosome 13, position 23365192—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | GGTGATCTGTCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTACATTTATTTTTTACTTACTTATATATTTATTTTTGAGACACAGTTTCGCTCTTGTTGCCCAGGCTGGACTGCAATAGTGGGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGTGATTACAGGTGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTCAACATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGG... | GGTGATCTGTCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTACATTTATTTTTTACTTACTTATATATTTATTTTTGAGACACAGTTTCGCTCTTGTTGCCCAGGCTGGACTGCAATAGTGGGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGTGATTACAGGTGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTCAACATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGG... | pathogenic | 207,385 |
Classify the chromosome 13 variant at position 23365239 affecting gene SACS (sacsin molecular chaperone) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | GAGCCACCGCACCTGGCCTACATTTATTTTTTACTTACTTATATATTTATTTTTGAGACACAGTTTCGCTCTTGTTGCCCAGGCTGGACTGCAATAGTGGGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGTGATTACAGGTGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTCAACATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGTGATCTGCCCACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG... | GAGCCACCGCACCTGGCCTACATTTATTTTTTACTTACTTATATATTTATTTTTGAGACACAGTTTCGCTCTTGTTGCCCAGGCTGGACTGCAATAGTGGGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGTGATTACAGGTGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTCAACATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGTGATCTGCCCACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG... | pathogenic | 207,386 |
Does the chromosome 13 mutation at position 23365295 within gene SACS (sacsin molecular chaperone) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GACACAGTTTCGCTCTTGTTGCCCAGGCTGGACTGCAATAGTGGGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGTGATTACAGGTGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTCAACATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGTGATCTGCCCACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCACGTTTATTTTAAATTGGCCACTTTTAAAGAGCCTATCTC... | GACACAGTTTCGCTCTTGTTGCCCAGGCTGGACTGCAATAGTGGGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGTGATTACAGGTGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTCAACATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGTGATCTGCCCACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCACGTTTATTTTAAATTGGCCACTTTTAAAGAGCCTATCTC... | benign | 207,388 |
A mutation at chromosome position 23371099 on chromosome 13 in gene SACS (sacsin molecular chaperone): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Hereditary_spastic_paraplegia'] | TAATAACTATTAATTCAAAAACAAGAAGCATGGTGCAGTGGGGAGGAGTGTTGATATTTTCCAAAGCAAATAAAATAAATGATGTTATTTTGTGGCTGCTTTGCCATTAAATAACAAGCCAGAGACAGAGGTGCCTATTATCACATTCTTAATATTCTCAAATTCAACCAGTGTTCTGATTGTTCTGAAATTCAGCAGTCACTGTCTCAATGGCTGTCCACTTCAAGTACCTTCAAGCCTTGCCTAAACTAGATATTCTTAGACCAACTGACCAGGTCACCTTCAGACAAGTGACAGGGCTGTAGGAAGAACAAGAAAAT... | TAATAACTATTAATTCAAAAACAAGAAGCATGGTGCAGTGGGGAGGAGTGTTGATATTTTCCAAAGCAAATAAAATAAATGATGTTATTTTGTGGCTGCTTTGCCATTAAATAACAAGCCAGAGACAGAGGTGCCTATTATCACATTCTTAATATTCTCAAATTCAACCAGTGTTCTGATTGTTCTGAAATTCAGCAGTCACTGTCTCAATGGCTGTCCACTTCAAGTACCTTCAAGCCTTGCCTAAACTAGATATTCTTAGACCAACTGACCAGGTCACCTTCAGACAAGTGACAGGGCTGTAGGAAGAACAAGAAAAT... | pathogenic | 207,394 |
Considering the variant on chromosome 13, location 23375260, involving gene SACS, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Charlevoix-Saguenay_spastic_ataxia', 'Spastic_paraplegia'] | AAAGGAGTAAGAATGACAAACTGCTCCTTCACAAGTCTGCCTAAAGTCCTCAATCAGCCTCTCCAACTGCCACCAAGAGGTCCATTCCTTCCAAAGAAGCTAAGGCTATGCTGGGGTGAGGCCCTCACTTCATCCAGCAACTAGCACCCGGTGCAGCAGCACAAGCCCGGCACTCAAATGCCTCTGTCTCAGCGGTTGTAGACTTCACTAGGCCTTCATTCTACACTACGATGAGGTGTCCATCATGGAGGTTAAGATCAATGCCCTCATTAAAGCAGTCGGGGGGCTGAGCGCAGTGGCTCACGCCTATAATCCCAACA... | AAAGGAGTAAGAATGACAAACTGCTCCTTCACAAGTCTGCCTAAAGTCCTCAATCAGCCTCTCCAACTGCCACCAAGAGGTCCATTCCTTCCAAAGAAGCTAAGGCTATGCTGGGGTGAGGCCCTCACTTCATCCAGCAACTAGCACCCGGTGCAGCAGCACAAGCCCGGCACTCAAATGCCTCTGTCTCAGCGGTTGTAGACTTCACTAGGCCTTCATTCTACACTACGATGAGGTGTCCATCATGGAGGTTAAGATCAATGCCCTCATTAAAGCAGTCGGGGGGCTGAGCGCAGTGGCTCACGCCTATAATCCCAACA... | pathogenic | 207,399 |
Clinical classification of chromosome 13, position 23836359, gene MIPEP (mitochondrial intermediate peptidase): benign or pathogenic? Disease(s) if pathogenic? | benign | AACCCATATGCCCGTGTTTTTCCCTGTGTAACTTCTCCTCAGCCTTTAGCTCCCAGCTCCTGGCCAGGCCTCCCCAGCAGTCTAGAGGTTGCTCCTCCCCTCTCCTGGGCTTTGCCTTCGGGCGGTAACACCCTAGTCAGGCTCTGTCTCAGTTCCCCTAGGAATTAAAGACCGCGGGCAATGGGATGTTGCCTGACTTATTCTTGGCTGTTTCTTGGATGCTGAGAATGCAGACTGGTAAATATTAAAACTCAGCAAGTGTTTTCTGACTGAAGGGCCTCTCTGTCCTATGTCCTCAATAAATGTATTTTGGTGGAACA... | AACCCATATGCCCGTGTTTTTCCCTGTGTAACTTCTCCTCAGCCTTTAGCTCCCAGCTCCTGGCCAGGCCTCCCCAGCAGTCTAGAGGTTGCTCCTCCCCTCTCCTGGGCTTTGCCTTCGGGCGGTAACACCCTAGTCAGGCTCTGTCTCAGTTCCCCTAGGAATTAAAGACCGCGGGCAATGGGATGTTGCCTGACTTATTCTTGGCTGTTTCTTGGATGCTGAGAATGCAGACTGGTAAATATTAAAACTCAGCAAGTGTTTTCTGACTGAAGGGCCTCTCTGTCCTATGTCCTCAATAAATGTATTTTGGTGGAACA... | benign | 207,418 |
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