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 |
|---|---|---|---|---|---|
Considering the variant on chromosome 19, location 11222783, involving gene DOCK6 (dedicator of cytokinesis 6), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Adams-Oliver_syndrome_2', 'DOCK6-related_disorder'] | AAAAGATGGAGAATTTCAACAGGGAATTGGGATCTACAAAAAAATCACATGGATATTTTACACTGGAAAAAAATATATAATATCTGAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGTGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTG... | AAAAGATGGAGAATTTCAACAGGGAATTGGGATCTACAAAAAAATCACATGGATATTTTACACTGGAAAAAAATATATAATATCTGAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGTGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTG... | pathogenic | 298,985 |
Regarding the variant found on chromosome 19 at position 11222794 in gene DOCK6 (dedicator of cytokinesis 6): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Adams-Oliver_syndrome_2', 'DOCK6-related_disorder'] | AATTTCAACAGGGAATTGGGATCTACAAAAAAATCACATGGATATTTTACACTGGAAAAAAATATATAATATCTGAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGTGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC... | AATTTCAACAGGGAATTGGGATCTACAAAAAAATCACATGGATATTTTACACTGGAAAAAAATATATAATATCTGAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGTGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC... | pathogenic | 298,986 |
Does the variant on chromosome 19 at location 11243278 affecting gene DOCK6 (dedicator of cytokinesis 6) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Adams-Oliver_syndrome', 'Adams-Oliver_syndrome_2', 'Inborn_genetic_diseases'] | GAGAGACTCAAAAAAAAAAAAAAATCCATAGGATGTTCATCACCTCCCCATGAAGTGAGTCCTATTTTATCCCCATTTTACAGATGGGGAAACTGAGGCCAAAGAGCATTGTTGACTTGCTGGGTCACACAGATACAATGAGGGGCTGGGGCAGAGGGTCAGGGGATGGGAGGTGAGGTGGCTGTCGGCTGAGGTTTCCATTCTGACCCCCACAGGCTCACGCTGACAAGCAGAGCCACATCCTATGGGCCCTCACAGGCCACGTGCAGCGGCAGAGGCGGGAGATGGTGGCACAGCAGCATCGGCTGCGACAGATCCAG... | GAGAGACTCAAAAAAAAAAAAAAATCCATAGGATGTTCATCACCTCCCCATGAAGTGAGTCCTATTTTATCCCCATTTTACAGATGGGGAAACTGAGGCCAAAGAGCATTGTTGACTTGCTGGGTCACACAGATACAATGAGGGGCTGGGGCAGAGGGTCAGGGGATGGGAGGTGAGGTGGCTGTCGGCTGAGGTTTCCATTCTGACCCCCACAGGCTCACGCTGACAAGCAGAGCCACATCCTATGGGCCCTCACAGGCCACGTGCAGCGGCAGAGGCGGGAGATGGTGGCACAGCAGCATCGGCTGCGACAGATCCAG... | pathogenic | 299,037 |
Determine whether the variant at chromosome 19, position 11426889, in gene ODAD3 (outer dynein arm docking complex subunit 3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Primary_ciliary_dyskinesia_30'] | ATGTGTATATATACCTATGTGTATATATGTATATATGTGTATATATACCTATGTGTATATATGTATATATGTGTATATGTACCTATGTGTATATATGTATATATGTGTATATGTACATATGTGTATATATGTATATATGTGTATATGTACATATGTGTATATGTATATATGTGTATATATACATATGTGCATATATACATATGTGTATATATGTGTATATGTGTATATATGTATATGTGTATATGTACATATGTGTATATATGTATATATGTGTATATGTACATATGTGTATATGTGTATATGTACATATGTATATATAC... | ATGTGTATATATACCTATGTGTATATATGTATATATGTGTATATATACCTATGTGTATATATGTATATATGTGTATATGTACCTATGTGTATATATGTATATATGTGTATATGTACATATGTGTATATATGTATATATGTGTATATGTACATATGTGTATATGTATATATGTGTATATATACATATGTGCATATATACATATGTGTATATATGTGTATATGTGTATATATGTATATGTGTATATGTACATATGTGTATATATGTATATATGTGTATATGTACATATGTGTATATGTGTATATGTACATATGTATATATAC... | pathogenic | 299,096 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 11430997, gene ODAD3 (outer dynein arm docking complex subunit 3): what disease(s) if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia_30'] | CTCACAGCAACCTCCACCTCCCGGGTTCAAGGGATTCTCCTGCGTCAGCCTCCTGAGTAGCTGGGATTACAAGCATGCACCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACGCCCGACCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTAATTTTTTATCTTTTGTTTTTGTTTGTTTGTTTGTTTTTGTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGTTGGAGTGCAGT... | CTCACAGCAACCTCCACCTCCCGGGTTCAAGGGATTCTCCTGCGTCAGCCTCCTGAGTAGCTGGGATTACAAGCATGCACCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACGCCCGACCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTAATTTTTTATCTTTTGTTTTTGTTTGTTTGTTTGTTTTTGTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGTTGGAGTGCAGT... | pathogenic | 299,101 |
Is the genetic variant on chromosome 19, position 11436201, gene PRKCSH (PRKCSH beta subunit of glucosidase II), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CAGTGAGCCGAGATCATGCCACTGCTCTCCAGCCTAGGCGACAGAGCAAGACCCTGTCTCAAAAAACAAAAAACAAAACAAAAAAAAACGCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCGAGGCGGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGTCAAGAGATTGAGACCACCCTGGCCAATATGGTGAAATCCCTCTGTACTAAAAATACAAAAATTAGTTAGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGA... | CAGTGAGCCGAGATCATGCCACTGCTCTCCAGCCTAGGCGACAGAGCAAGACCCTGTCTCAAAAAACAAAAAACAAAACAAAAAAAAACGCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCGAGGCGGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGTCAAGAGATTGAGACCACCCTGGCCAATATGGTGAAATCCCTCTGTACTAAAAATACAAAAATTAGTTAGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGA... | benign | 299,113 |
Classify the chromosome 19 variant at position 11436202 affecting gene PRKCSH (PRKCSH beta subunit of glucosidase II) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | AGTGAGCCGAGATCATGCCACTGCTCTCCAGCCTAGGCGACAGAGCAAGACCCTGTCTCAAAAAACAAAAAACAAAACAAAAAAAAACGCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCGAGGCGGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGTCAAGAGATTGAGACCACCCTGGCCAATATGGTGAAATCCCTCTGTACTAAAAATACAAAAATTAGTTAGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAG... | AGTGAGCCGAGATCATGCCACTGCTCTCCAGCCTAGGCGACAGAGCAAGACCCTGTCTCAAAAAACAAAAAACAAAACAAAAAAAAACGCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCGAGGCGGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGTCAAGAGATTGAGACCACCCTGGCCAATATGGTGAAATCCCTCTGTACTAAAAATACAAAAATTAGTTAGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAG... | benign | 299,114 |
Variant at chromosome 19, position 11441241, gene PRKCSH (PRKCSH beta subunit of glucosidase II): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic | ACGATGATTAGGTTTTTATGCACGTGTGAGAGATACGCCTCCCTTAAACCTTGTTGCGACCTTGGCGCATTACCTGTCTGATATGAAAAAATAAGACCCGGCTCATGGTGGCTCCTGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGAAGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAAAATAGCGATACCCTATCTCTATAAAAAGTAAAAAAAAAAAATTAAAAAGTAAAAATAAAAATTGGAAATTATAATTTAAAAAATTACTGGTTGGGCATGTGGCTCACACCTGTAATCCCAGCACTTT... | ACGATGATTAGGTTTTTATGCACGTGTGAGAGATACGCCTCCCTTAAACCTTGTTGCGACCTTGGCGCATTACCTGTCTGATATGAAAAAATAAGACCCGGCTCATGGTGGCTCCTGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGAAGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAAAATAGCGATACCCTATCTCTATAAAAAGTAAAAAAAAAAAATTAAAAAGTAAAAATAAAAATTGGAAATTATAATTTAAAAAATTACTGGTTGGGCATGTGGCTCACACCTGTAATCCCAGCACTTT... | pathogenic | 299,126 |
Does the variant on chromosome 19 at location 11441255 affecting gene PRKCSH (PRKCSH beta subunit of glucosidase II) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_dominant_polycystic_liver_disease', 'PRKCSH-related_disorder', 'Polycystic_liver_disease_1'] | TTTATGCACGTGTGAGAGATACGCCTCCCTTAAACCTTGTTGCGACCTTGGCGCATTACCTGTCTGATATGAAAAAATAAGACCCGGCTCATGGTGGCTCCTGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGAAGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAAAATAGCGATACCCTATCTCTATAAAAAGTAAAAAAAAAAAATTAAAAAGTAAAAATAAAAATTGGAAATTATAATTTAAAAAATTACTGGTTGGGCATGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTAAGGCG... | TTTATGCACGTGTGAGAGATACGCCTCCCTTAAACCTTGTTGCGACCTTGGCGCATTACCTGTCTGATATGAAAAAATAAGACCCGGCTCATGGTGGCTCCTGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGAAGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAAAATAGCGATACCCTATCTCTATAAAAAGTAAAAAAAAAAAATTAAAAAGTAAAAATAAAAATTGGAAATTATAATTTAAAAAATTACTGGTTGGGCATGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTAAGGCG... | pathogenic | 299,127 |
Benign or pathogenic: chromosome 19, position 11441255, gene PRKCSH (PRKCSH beta subunit of glucosidase II) variant? Disease(s) if pathogenic? | pathogenic; ['Polycystic_liver_disease_1'] | TTTATGCACGTGTGAGAGATACGCCTCCCTTAAACCTTGTTGCGACCTTGGCGCATTACCTGTCTGATATGAAAAAATAAGACCCGGCTCATGGTGGCTCCTGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGAAGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAAAATAGCGATACCCTATCTCTATAAAAAGTAAAAAAAAAAAATTAAAAAGTAAAAATAAAAATTGGAAATTATAATTTAAAAAATTACTGGTTGGGCATGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTAAGGCG... | TTTATGCACGTGTGAGAGATACGCCTCCCTTAAACCTTGTTGCGACCTTGGCGCATTACCTGTCTGATATGAAAAAATAAGACCCGGCTCATGGTGGCTCCTGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGAAGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAAAATAGCGATACCCTATCTCTATAAAAAGTAAAAAAAAAAAATTAAAAAGTAAAAATAAAAATTGGAAATTATAATTTAAAAAATTACTGGTTGGGCATGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTAAGGCG... | pathogenic | 299,128 |
Mutation at chromosome 19, position 11447525, within PRKCSH (PRKCSH beta subunit of glucosidase II): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AGTGTCCCCTAGTTGGAGCTGCCCACCTTTCCGTGGGCCTGGGTTTCCCTCCCCGCCACCCTCGCCTCTAGAAACCAGCCAGATCCTCCTTGGGTTCCCCCGGCGTGGGGTCCAGGCTGATCCCAAGCCCCGTGTGACCCCGCCTCTTACTCGTGGATGGCCAGGTCCAGGATGCCCTGGGCGAGGAGATAGGGGGACCACCCTCTCCCCAGGAGCTGGGCACAGACCCTCAGCCTCAGGGAGTGTGTCTAGGCATCTAGTGATCGGATGGCTTTTCCCAGCCCCACTACGCTCTGGGGAAAGCCAGACCTGGGTTCGAA... | AGTGTCCCCTAGTTGGAGCTGCCCACCTTTCCGTGGGCCTGGGTTTCCCTCCCCGCCACCCTCGCCTCTAGAAACCAGCCAGATCCTCCTTGGGTTCCCCCGGCGTGGGGTCCAGGCTGATCCCAAGCCCCGTGTGACCCCGCCTCTTACTCGTGGATGGCCAGGTCCAGGATGCCCTGGGCGAGGAGATAGGGGGACCACCCTCTCCCCAGGAGCTGGGCACAGACCCTCAGCCTCAGGGAGTGTGTCTAGGCATCTAGTGATCGGATGGCTTTTCCCAGCCCCACTACGCTCTGGGGAAAGCCAGACCTGGGTTCGAA... | benign | 299,151 |
Does the variant impacting PRKCSH (PRKCSH beta subunit of glucosidase II) on chromosome 19, position 11447525, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AGTGTCCCCTAGTTGGAGCTGCCCACCTTTCCGTGGGCCTGGGTTTCCCTCCCCGCCACCCTCGCCTCTAGAAACCAGCCAGATCCTCCTTGGGTTCCCCCGGCGTGGGGTCCAGGCTGATCCCAAGCCCCGTGTGACCCCGCCTCTTACTCGTGGATGGCCAGGTCCAGGATGCCCTGGGCGAGGAGATAGGGGGACCACCCTCTCCCCAGGAGCTGGGCACAGACCCTCAGCCTCAGGGAGTGTGTCTAGGCATCTAGTGATCGGATGGCTTTTCCCAGCCCCACTACGCTCTGGGGAAAGCCAGACCTGGGTTCGAA... | AGTGTCCCCTAGTTGGAGCTGCCCACCTTTCCGTGGGCCTGGGTTTCCCTCCCCGCCACCCTCGCCTCTAGAAACCAGCCAGATCCTCCTTGGGTTCCCCCGGCGTGGGGTCCAGGCTGATCCCAAGCCCCGTGTGACCCCGCCTCTTACTCGTGGATGGCCAGGTCCAGGATGCCCTGGGCGAGGAGATAGGGGGACCACCCTCTCCCCAGGAGCTGGGCACAGACCCTCAGCCTCAGGGAGTGTGTCTAGGCATCTAGTGATCGGATGGCTTTTCCCAGCCCCACTACGCTCTGGGGAAAGCCAGACCTGGGTTCGAA... | benign | 299,153 |
Variant in gene PRKCSH (PRKCSH beta subunit of glucosidase II), located at chromosome 19 position 11447525: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | AGTGTCCCCTAGTTGGAGCTGCCCACCTTTCCGTGGGCCTGGGTTTCCCTCCCCGCCACCCTCGCCTCTAGAAACCAGCCAGATCCTCCTTGGGTTCCCCCGGCGTGGGGTCCAGGCTGATCCCAAGCCCCGTGTGACCCCGCCTCTTACTCGTGGATGGCCAGGTCCAGGATGCCCTGGGCGAGGAGATAGGGGGACCACCCTCTCCCCAGGAGCTGGGCACAGACCCTCAGCCTCAGGGAGTGTGTCTAGGCATCTAGTGATCGGATGGCTTTTCCCAGCCCCACTACGCTCTGGGGAAAGCCAGACCTGGGTTCGAA... | AGTGTCCCCTAGTTGGAGCTGCCCACCTTTCCGTGGGCCTGGGTTTCCCTCCCCGCCACCCTCGCCTCTAGAAACCAGCCAGATCCTCCTTGGGTTCCCCCGGCGTGGGGTCCAGGCTGATCCCAAGCCCCGTGTGACCCCGCCTCTTACTCGTGGATGGCCAGGTCCAGGATGCCCTGGGCGAGGAGATAGGGGGACCACCCTCTCCCCAGGAGCTGGGCACAGACCCTCAGCCTCAGGGAGTGTGTCTAGGCATCTAGTGATCGGATGGCTTTTCCCAGCCCCACTACGCTCTGGGGAAAGCCAGACCTGGGTTCGAA... | benign | 299,154 |
Does the variant on chromosome 19 at location 11447525 affecting gene PRKCSH (PRKCSH beta subunit of glucosidase II) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AGTGTCCCCTAGTTGGAGCTGCCCACCTTTCCGTGGGCCTGGGTTTCCCTCCCCGCCACCCTCGCCTCTAGAAACCAGCCAGATCCTCCTTGGGTTCCCCCGGCGTGGGGTCCAGGCTGATCCCAAGCCCCGTGTGACCCCGCCTCTTACTCGTGGATGGCCAGGTCCAGGATGCCCTGGGCGAGGAGATAGGGGGACCACCCTCTCCCCAGGAGCTGGGCACAGACCCTCAGCCTCAGGGAGTGTGTCTAGGCATCTAGTGATCGGATGGCTTTTCCCAGCCCCACTACGCTCTGGGGAAAGCCAGACCTGGGTTCGAA... | AGTGTCCCCTAGTTGGAGCTGCCCACCTTTCCGTGGGCCTGGGTTTCCCTCCCCGCCACCCTCGCCTCTAGAAACCAGCCAGATCCTCCTTGGGTTCCCCCGGCGTGGGGTCCAGGCTGATCCCAAGCCCCGTGTGACCCCGCCTCTTACTCGTGGATGGCCAGGTCCAGGATGCCCTGGGCGAGGAGATAGGGGGACCACCCTCTCCCCAGGAGCTGGGCACAGACCCTCAGCCTCAGGGAGTGTGTCTAGGCATCTAGTGATCGGATGGCTTTTCCCAGCCCCACTACGCTCTGGGGAAAGCCAGACCTGGGTTCGAA... | benign | 299,155 |
Is the genetic variant on chromosome 19, position 11448915, gene PRKCSH (PRKCSH beta subunit of glucosidase II), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Polycystic_liver_disease_1'] | CACTCCAGCCCCTGGTCTCCTCCTCCCCTCCCACGGGCCTGTGCTGCCCCCTCCTGGCCGCAGTGCCTCACTGGCGTGGCCCTGGCCTGGTCATCAGGGCCCGGGGCCCAGCCCTCCCGTGCCTGGCACCGCAGCCCGGGTGCCGGGGTGGCCGAGATGGGGGACACGTGGTGGCCTAGATCTTGACACCACCCCCAACACACACAGGCCCTCCTCAGTGGGGACACACAGACAGACGCCACCTCTTTCTACGACCGCGTCTGGGCCGCCATCAGGGACAAGTACCGGTCCGAGGTCAGTGGAGGAGAAGGGAGGGGACT... | CACTCCAGCCCCTGGTCTCCTCCTCCCCTCCCACGGGCCTGTGCTGCCCCCTCCTGGCCGCAGTGCCTCACTGGCGTGGCCCTGGCCTGGTCATCAGGGCCCGGGGCCCAGCCCTCCCGTGCCTGGCACCGCAGCCCGGGTGCCGGGGTGGCCGAGATGGGGGACACGTGGTGGCCTAGATCTTGACACCACCCCCAACACACACAGGCCCTCCTCAGTGGGGACACACAGACAGACGCCACCTCTTTCTACGACCGCGTCTGGGCCGCCATCAGGGACAAGTACCGGTCCGAGGTCAGTGGAGGAGAAGGGAGGGGACT... | pathogenic | 299,170 |
A genetic variant on chromosome 19, position 11575188, affects the gene ACP5 (acid phosphatase 5, tartrate resistant). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['ACP5-related_disorder', 'Spondyloenchondrodysplasia_with_immune_dysregulation'] | TACTCAGGAGGCTGAGCCAGGAGAATTGCTTGAATCTGGGAGTTGGAGGTTTCAGCGAGCCGAGCTCACGCCACTGCACTCCAGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAGAAAAAAAAAAGAAAATAATAAAGGGAATGTTTTGATTATGGAGGCATAGACTATATAGAGAAAGAAAATGATTAATATTAGTTGCCCCTGGGGTGGAGGAAGACTTGCTTTATGTTGTACCCTTCTTTCTGCTTGGATTTTATTGAATTAATTTTTTTTTTGAGACAGAGTCTTGCTCTATCACCCAGGCTGG... | TACTCAGGAGGCTGAGCCAGGAGAATTGCTTGAATCTGGGAGTTGGAGGTTTCAGCGAGCCGAGCTCACGCCACTGCACTCCAGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAGAAAAAAAAAAGAAAATAATAAAGGGAATGTTTTGATTATGGAGGCATAGACTATATAGAGAAAGAAAATGATTAATATTAGTTGCCCCTGGGGTGGAGGAAGACTTGCTTTATGTTGTACCCTTCTTTCTGCTTGGATTTTATTGAATTAATTTTTTTTTTGAGACAGAGTCTTGCTCTATCACCCAGGCTGG... | pathogenic | 299,192 |
Clinical significance of chromosome 19, position 11575197, gene ACP5 (acid phosphatase 5, tartrate resistant): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Spondyloenchondrodysplasia_with_immune_dysregulation'] | GGCTGAGCCAGGAGAATTGCTTGAATCTGGGAGTTGGAGGTTTCAGCGAGCCGAGCTCACGCCACTGCACTCCAGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAGAAAAAAAAAAGAAAATAATAAAGGGAATGTTTTGATTATGGAGGCATAGACTATATAGAGAAAGAAAATGATTAATATTAGTTGCCCCTGGGGTGGAGGAAGACTTGCTTTATGTTGTACCCTTCTTTCTGCTTGGATTTTATTGAATTAATTTTTTTTTTGAGACAGAGTCTTGCTCTATCACCCAGGCTGGAGTGCAGTG... | GGCTGAGCCAGGAGAATTGCTTGAATCTGGGAGTTGGAGGTTTCAGCGAGCCGAGCTCACGCCACTGCACTCCAGCCTGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAGAAAAAAAAAAGAAAATAATAAAGGGAATGTTTTGATTATGGAGGCATAGACTATATAGAGAAAGAAAATGATTAATATTAGTTGCCCCTGGGGTGGAGGAAGACTTGCTTTATGTTGTACCCTTCTTTCTGCTTGGATTTTATTGAATTAATTTTTTTTTTGAGACAGAGTCTTGCTCTATCACCCAGGCTGGAGTGCAGTG... | pathogenic | 299,193 |
Variant chromosome 19, position 12647235, gene MAN2B1 (mannosidase alpha class 2B member 1): benign or pathogenic? Disease(s)? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | GCCCATTGGAGGGGTTCTCAGAGGAAACATTAGAGGACCAACATGATACCACCCTCCCTGGGCTTCCCTGTCCACCCTGGGCCAGTCCTTGTCATCAGAGGGGGCCTAAGAAACATATGCTGTTGGTGCTTGCAAACTGACCCCAGAACACTTAAAAACTTTTTATTTGTATTTATTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGACACAATCTCGCCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCA... | GCCCATTGGAGGGGTTCTCAGAGGAAACATTAGAGGACCAACATGATACCACCCTCCCTGGGCTTCCCTGTCCACCCTGGGCCAGTCCTTGTCATCAGAGGGGGCCTAAGAAACATATGCTGTTGGTGCTTGCAAACTGACCCCAGAACACTTAAAAACTTTTTATTTGTATTTATTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGACACAATCTCGCCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCA... | pathogenic | 299,227 |
A genetic variant at chromosome 19, position 12647276, affecting gene MAN2B1 (mannosidase alpha class 2B member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Deficiency_of_alpha-mannosidase'] | CATGATACCACCCTCCCTGGGCTTCCCTGTCCACCCTGGGCCAGTCCTTGTCATCAGAGGGGGCCTAAGAAACATATGCTGTTGGTGCTTGCAAACTGACCCCAGAACACTTAAAAACTTTTTATTTGTATTTATTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGACACAATCTCGCCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAGGGGT... | CATGATACCACCCTCCCTGGGCTTCCCTGTCCACCCTGGGCCAGTCCTTGTCATCAGAGGGGGCCTAAGAAACATATGCTGTTGGTGCTTGCAAACTGACCCCAGAACACTTAAAAACTTTTTATTTGTATTTATTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGTGACACAATCTCGCCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAGGGGT... | pathogenic | 299,229 |
Chromosome 19, position 12647460, gene MAN2B1 (mannosidase alpha class 2B member 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Deficiency_of_alpha-mannosidase', 'MAN2B1-related_disorder'] | GACACAATCTCGCCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCCCTTGACCTTGTGATCCATGTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCACTGCCTACTTTTTTTTTTTTTTTCTAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGAGCCATCATGGTTCACT... | GACACAATCTCGCCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCCCTTGACCTTGTGATCCATGTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCACTGCCTACTTTTTTTTTTTTTTTCTAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGAGCCATCATGGTTCACT... | pathogenic | 299,231 |
Is the genetic variant on chromosome 19, position 12647511, gene MAN2B1 (mannosidase alpha class 2B member 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | CCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCCCTTGACCTTGTGATCCATGTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCACTGCCTACTTTTTTTTTTTTTTTCTAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGAGCCATCATGGTTCACTGCAGCCTCAAACTTTTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAG... | CCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCCCTTGACCTTGTGATCCATGTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCACTGCCTACTTTTTTTTTTTTTTTCTAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGAGCCATCATGGTTCACTGCAGCCTCAAACTTTTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAG... | pathogenic | 299,233 |
Variant chromosome 19, position 12648263, gene MAN2B1 (mannosidase alpha class 2B member 1): benign or pathogenic? Disease(s)? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | TGTGATTATCACTTACTGCAGCCTTGACCTCCTGTGCTCAAGCAATTCTCCCAAGTAGTTGGGAATACAGACACTTCACCCAGCTAATTTTTTAAATTTTTTGTACATACAGGGCCTCATTTTGTGGCCCAGGCTAGTCTAGATCTCCTGGGCTCAAGTGATTCTCTCTCCTCAGCCTCCAGAGTTGTTAGGATTACAGGAGCAAGCCACCACACCCGGCTCTGGGTCATAAATTCTGTCCCCCTCTAACAAGCAAATAACAGACAAAAAAAACCCACACTCAGTCACAGAGCGACCTGAGTCTTAGTAGTAGCGTTTTA... | TGTGATTATCACTTACTGCAGCCTTGACCTCCTGTGCTCAAGCAATTCTCCCAAGTAGTTGGGAATACAGACACTTCACCCAGCTAATTTTTTAAATTTTTTGTACATACAGGGCCTCATTTTGTGGCCCAGGCTAGTCTAGATCTCCTGGGCTCAAGTGATTCTCTCTCCTCAGCCTCCAGAGTTGTTAGGATTACAGGAGCAAGCCACCACACCCGGCTCTGGGTCATAAATTCTGTCCCCCTCTAACAAGCAAATAACAGACAAAAAAAACCCACACTCAGTCACAGAGCGACCTGAGTCTTAGTAGTAGCGTTTTA... | pathogenic | 299,239 |
Variant at chromosome 19, position 12648270, gene MAN2B1 (mannosidase alpha class 2B member 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Deficiency_of_alpha-mannosidase'] | ATCACTTACTGCAGCCTTGACCTCCTGTGCTCAAGCAATTCTCCCAAGTAGTTGGGAATACAGACACTTCACCCAGCTAATTTTTTAAATTTTTTGTACATACAGGGCCTCATTTTGTGGCCCAGGCTAGTCTAGATCTCCTGGGCTCAAGTGATTCTCTCTCCTCAGCCTCCAGAGTTGTTAGGATTACAGGAGCAAGCCACCACACCCGGCTCTGGGTCATAAATTCTGTCCCCCTCTAACAAGCAAATAACAGACAAAAAAAACCCACACTCAGTCACAGAGCGACCTGAGTCTTAGTAGTAGCGTTTTAATGGCAG... | ATCACTTACTGCAGCCTTGACCTCCTGTGCTCAAGCAATTCTCCCAAGTAGTTGGGAATACAGACACTTCACCCAGCTAATTTTTTAAATTTTTTGTACATACAGGGCCTCATTTTGTGGCCCAGGCTAGTCTAGATCTCCTGGGCTCAAGTGATTCTCTCTCCTCAGCCTCCAGAGTTGTTAGGATTACAGGAGCAAGCCACCACACCCGGCTCTGGGTCATAAATTCTGTCCCCCTCTAACAAGCAAATAACAGACAAAAAAAACCCACACTCAGTCACAGAGCGACCTGAGTCTTAGTAGTAGCGTTTTAATGGCAG... | pathogenic | 299,240 |
Assess the variant on chromosome 19, position 12648280, impacting MAN2B1 (mannosidase alpha class 2B member 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Deficiency_of_alpha-mannosidase'] | GCAGCCTTGACCTCCTGTGCTCAAGCAATTCTCCCAAGTAGTTGGGAATACAGACACTTCACCCAGCTAATTTTTTAAATTTTTTGTACATACAGGGCCTCATTTTGTGGCCCAGGCTAGTCTAGATCTCCTGGGCTCAAGTGATTCTCTCTCCTCAGCCTCCAGAGTTGTTAGGATTACAGGAGCAAGCCACCACACCCGGCTCTGGGTCATAAATTCTGTCCCCCTCTAACAAGCAAATAACAGACAAAAAAAACCCACACTCAGTCACAGAGCGACCTGAGTCTTAGTAGTAGCGTTTTAATGGCAGCAGCCCCAAG... | GCAGCCTTGACCTCCTGTGCTCAAGCAATTCTCCCAAGTAGTTGGGAATACAGACACTTCACCCAGCTAATTTTTTAAATTTTTTGTACATACAGGGCCTCATTTTGTGGCCCAGGCTAGTCTAGATCTCCTGGGCTCAAGTGATTCTCTCTCCTCAGCCTCCAGAGTTGTTAGGATTACAGGAGCAAGCCACCACACCCGGCTCTGGGTCATAAATTCTGTCCCCCTCTAACAAGCAAATAACAGACAAAAAAAACCCACACTCAGTCACAGAGCGACCTGAGTCTTAGTAGTAGCGTTTTAATGGCAGCAGCCCCAAG... | pathogenic | 299,242 |
Variant in gene MAN2B1 (mannosidase alpha class 2B member 1), located at chromosome 19 position 12649154: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | TGGACTCTGCCCCATACCCTCATGACCTTTTTGGGTCCTGGCCAACATCCCATGCCTCACACATTGCCCCCACCTGCCGGCCCCAGGTAAGACTCCACCCCTTCCCTACCCCTGACCAGGGCCCCACCTGTGTTTGTTGTCCACTTGAGCCTGGAGGCTGCCTCGCGGAGCTGGTTGGCCACCAGCGTGGTCTCCTGCAGGCGGGTGATGGTGAAGGTGGAGAACAGGTCCTGCGGGGAAGGGGATGGGCCCAGATGAGTTGGGGCAAAGCCAGGTTTCTCTTCTCTCCCTCTCTCTTGCCTCTCTCCGATCTCCTTCTC... | TGGACTCTGCCCCATACCCTCATGACCTTTTTGGGTCCTGGCCAACATCCCATGCCTCACACATTGCCCCCACCTGCCGGCCCCAGGTAAGACTCCACCCCTTCCCTACCCCTGACCAGGGCCCCACCTGTGTTTGTTGTCCACTTGAGCCTGGAGGCTGCCTCGCGGAGCTGGTTGGCCACCAGCGTGGTCTCCTGCAGGCGGGTGATGGTGAAGGTGGAGAACAGGTCCTGCGGGGAAGGGGATGGGCCCAGATGAGTTGGGGCAAAGCCAGGTTTCTCTTCTCTCCCTCTCTCTTGCCTCTCTCCGATCTCCTTCTC... | pathogenic | 299,247 |
Assess the variant on chromosome 19, position 12649169, impacting MAN2B1 (mannosidase alpha class 2B member 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Deficiency_of_alpha-mannosidase'] | ACCCTCATGACCTTTTTGGGTCCTGGCCAACATCCCATGCCTCACACATTGCCCCCACCTGCCGGCCCCAGGTAAGACTCCACCCCTTCCCTACCCCTGACCAGGGCCCCACCTGTGTTTGTTGTCCACTTGAGCCTGGAGGCTGCCTCGCGGAGCTGGTTGGCCACCAGCGTGGTCTCCTGCAGGCGGGTGATGGTGAAGGTGGAGAACAGGTCCTGCGGGGAAGGGGATGGGCCCAGATGAGTTGGGGCAAAGCCAGGTTTCTCTTCTCTCCCTCTCTCTTGCCTCTCTCCGATCTCCTTCTCAATTTTGCCCTTCTC... | ACCCTCATGACCTTTTTGGGTCCTGGCCAACATCCCATGCCTCACACATTGCCCCCACCTGCCGGCCCCAGGTAAGACTCCACCCCTTCCCTACCCCTGACCAGGGCCCCACCTGTGTTTGTTGTCCACTTGAGCCTGGAGGCTGCCTCGCGGAGCTGGTTGGCCACCAGCGTGGTCTCCTGCAGGCGGGTGATGGTGAAGGTGGAGAACAGGTCCTGCGGGGAAGGGGATGGGCCCAGATGAGTTGGGGCAAAGCCAGGTTTCTCTTCTCTCCCTCTCTCTTGCCTCTCTCCGATCTCCTTCTCAATTTTGCCCTTCTC... | pathogenic | 299,248 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 12649415, gene MAN2B1 (mannosidase alpha class 2B member 1): what disease(s) if pathogenic? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | GGGGCAAAGCCAGGTTTCTCTTCTCTCCCTCTCTCTTGCCTCTCTCCGATCTCCTTCTCAATTTTGCCCTTCTCACCCTCAAGTTCAAGGTAACGGGGGCGCTCAGGTTACGTCCGGAATCCTCTCCTACGGCAAACTGGTGCTCCAAGCGCAGCAGCACCATTTCGGGGCCCCAGCTGGCCAGCGTGAGCAGGTGCACCGAGGGCGGCAGGTCCCTGCGCAGCCCTGAGAACTGCGGGAGAGAGGGCGGGGCTGAGTTGGAGAGGGGCGGGGCCTGGATGGAGAAGGGCGGGGCCGAGCCAGGTCAGGAGGCAGGGCTA... | GGGGCAAAGCCAGGTTTCTCTTCTCTCCCTCTCTCTTGCCTCTCTCCGATCTCCTTCTCAATTTTGCCCTTCTCACCCTCAAGTTCAAGGTAACGGGGGCGCTCAGGTTACGTCCGGAATCCTCTCCTACGGCAAACTGGTGCTCCAAGCGCAGCAGCACCATTTCGGGGCCCCAGCTGGCCAGCGTGAGCAGGTGCACCGAGGGCGGCAGGTCCCTGCGCAGCCCTGAGAACTGCGGGAGAGAGGGCGGGGCTGAGTTGGAGAGGGGCGGGGCCTGGATGGAGAAGGGCGGGGCCGAGCCAGGTCAGGAGGCAGGGCTA... | pathogenic | 299,256 |
Is the chromosome 19, position 12649423 variant in MAN2B1 (mannosidase alpha class 2B member 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | GCCAGGTTTCTCTTCTCTCCCTCTCTCTTGCCTCTCTCCGATCTCCTTCTCAATTTTGCCCTTCTCACCCTCAAGTTCAAGGTAACGGGGGCGCTCAGGTTACGTCCGGAATCCTCTCCTACGGCAAACTGGTGCTCCAAGCGCAGCAGCACCATTTCGGGGCCCCAGCTGGCCAGCGTGAGCAGGTGCACCGAGGGCGGCAGGTCCCTGCGCAGCCCTGAGAACTGCGGGAGAGAGGGCGGGGCTGAGTTGGAGAGGGGCGGGGCCTGGATGGAGAAGGGCGGGGCCGAGCCAGGTCAGGAGGCAGGGCTAGGTTGTAG... | GCCAGGTTTCTCTTCTCTCCCTCTCTCTTGCCTCTCTCCGATCTCCTTCTCAATTTTGCCCTTCTCACCCTCAAGTTCAAGGTAACGGGGGCGCTCAGGTTACGTCCGGAATCCTCTCCTACGGCAAACTGGTGCTCCAAGCGCAGCAGCACCATTTCGGGGCCCCAGCTGGCCAGCGTGAGCAGGTGCACCGAGGGCGGCAGGTCCCTGCGCAGCCCTGAGAACTGCGGGAGAGAGGGCGGGGCTGAGTTGGAGAGGGGCGGGGCCTGGATGGAGAAGGGCGGGGCCGAGCCAGGTCAGGAGGCAGGGCTAGGTTGTAG... | pathogenic | 299,258 |
Evaluate this variant at chromosome 19, position 12649967, gene MAN2B1 (mannosidase alpha class 2B member 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Deficiency_of_alpha-mannosidase', 'Inborn_genetic_diseases'] | TAAAGTGAAATGGGCGGGGCCGGAGGTGAGTTGGTGGTTTAGGGGCATGAGCTAGGGCTGTGCCTCTACACAGTCCAGGGGGGTTGGGACTGGGCTGGCACTGGGCGGGGACTGCCCAGGGGATGGGGTTGGCCCGAGGGTTTGGGGCTAATTATGGCCAAATGGATCCCCGCTGAGCCTAGGAAACTCCGCACCCAAACCCGGCTCCCTGGTAGACTTCAATCCGGTCCTCTCTGCCTACCCCGCTGCCCCTCACCTGCGTGCGCGGAGGAGCCCCGAGATTGTAGGCGGCGCCGCCACCCGGGGCCAGCACCACCTGA... | TAAAGTGAAATGGGCGGGGCCGGAGGTGAGTTGGTGGTTTAGGGGCATGAGCTAGGGCTGTGCCTCTACACAGTCCAGGGGGGTTGGGACTGGGCTGGCACTGGGCGGGGACTGCCCAGGGGATGGGGTTGGCCCGAGGGTTTGGGGCTAATTATGGCCAAATGGATCCCCGCTGAGCCTAGGAAACTCCGCACCCAAACCCGGCTCCCTGGTAGACTTCAATCCGGTCCTCTCTGCCTACCCCGCTGCCCCTCACCTGCGTGCGCGGAGGAGCCCCGAGATTGTAGGCGGCGCCGCCACCCGGGGCCAGCACCACCTGA... | pathogenic | 299,265 |
Variant at chromosome position 12650141, chromosome 19, gene MAN2B1 (mannosidase alpha class 2B member 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | GAGCCTAGGAAACTCCGCACCCAAACCCGGCTCCCTGGTAGACTTCAATCCGGTCCTCTCTGCCTACCCCGCTGCCCCTCACCTGCGTGCGCGGAGGAGCCCCGAGATTGTAGGCGGCGCCGCCACCCGGGGCCAGCACCACCTGAGGGGCCAGGACCTCCTGCTCCGCCAGGAGCCGGTGTCCGGCGGCTGCAGCCTGGGCTGTGTCCAGCAGCACCAGGTGGCGCCCTCGCACCCACGCCCCCGACCCGTTCTCCATTAGTGGCTCCGATACTCCGCGTCCATCGTCCTTCAGCAGCCTTCGGTGCACCTGGGGGGAG... | GAGCCTAGGAAACTCCGCACCCAAACCCGGCTCCCTGGTAGACTTCAATCCGGTCCTCTCTGCCTACCCCGCTGCCCCTCACCTGCGTGCGCGGAGGAGCCCCGAGATTGTAGGCGGCGCCGCCACCCGGGGCCAGCACCACCTGAGGGGCCAGGACCTCCTGCTCCGCCAGGAGCCGGTGTCCGGCGGCTGCAGCCTGGGCTGTGTCCAGCAGCACCAGGTGGCGCCCTCGCACCCACGCCCCCGACCCGTTCTCCATTAGTGGCTCCGATACTCCGCGTCCATCGTCCTTCAGCAGCCTTCGGTGCACCTGGGGGGAG... | pathogenic | 299,271 |
A genetic alteration at chromosome 19, position 12652185, in gene MAN2B1 (mannosidase alpha class 2B member 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | TCCAGGTGCCGCTGTCCTGGGTACAGGCGAACCACCTGGGAACACCAAGCTGAGAAGTTCTGGTGCACCTCCTGCACCAAGGGTGTCTGCGGGCACACGGGTGAGGTGGATGTCAGTCTGTACCTGAGCAGAGGTGAGTCCTACAAATGTCCCCCAACCCTGGCCATAAACCCCATTAAGGCCTACATCAAGGTCAACCTTCAGTCACCGCCACATAATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTTGCCCAGGCGGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT... | TCCAGGTGCCGCTGTCCTGGGTACAGGCGAACCACCTGGGAACACCAAGCTGAGAAGTTCTGGTGCACCTCCTGCACCAAGGGTGTCTGCGGGCACACGGGTGAGGTGGATGTCAGTCTGTACCTGAGCAGAGGTGAGTCCTACAAATGTCCCCCAACCCTGGCCATAAACCCCATTAAGGCCTACATCAAGGTCAACCTTCAGTCACCGCCACATAATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTTGCCCAGGCGGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT... | pathogenic | 299,277 |
Classify the chromosome 19 variant at position 12652235 affecting gene MAN2B1 (mannosidase alpha class 2B member 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | TGAGAAGTTCTGGTGCACCTCCTGCACCAAGGGTGTCTGCGGGCACACGGGTGAGGTGGATGTCAGTCTGTACCTGAGCAGAGGTGAGTCCTACAAATGTCCCCCAACCCTGGCCATAAACCCCATTAAGGCCTACATCAAGGTCAACCTTCAGTCACCGCCACATAATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTTGCCCAGGCGGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACC... | TGAGAAGTTCTGGTGCACCTCCTGCACCAAGGGTGTCTGCGGGCACACGGGTGAGGTGGATGTCAGTCTGTACCTGAGCAGAGGTGAGTCCTACAAATGTCCCCCAACCCTGGCCATAAACCCCATTAAGGCCTACATCAAGGTCAACCTTCAGTCACCGCCACATAATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTTGCCCAGGCGGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACC... | pathogenic | 299,279 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 12652432, gene MAN2B1 (mannosidase alpha class 2B member 1): what disease(s) if pathogenic? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | AGTCTCGCTCTTTTGCCCAGGCGGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCACATAATTCTTTTTTCTTTTTTTTTTTTTGAGACAGAGTTTTGCT... | AGTCTCGCTCTTTTGCCCAGGCGGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCACATAATTCTTTTTTCTTTTTTTTTTTTTGAGACAGAGTTTTGCT... | pathogenic | 299,287 |
Regarding the variant found on chromosome 19 at position 12656631 in gene MAN2B1 (mannosidase alpha class 2B member 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Deficiency_of_alpha-mannosidase'] | TGTGGGAACGTTTTAACTTCTTTTATTTTATTTTAATAAAAATATGAAAAAGATGTTTTCTTCCTAACATGAACAGTCCTACTGCAGAACTTCTTTTATTTTATTTTATTGAGACAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCACCTGGGCTCAAGCAATCCTCCTTCCTCAGCCCCCAAGTAGCTGGGATTACAGACGTGTACCACCACCCCCAGCTAATTTTTTGTAGAGACTGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCAGT... | TGTGGGAACGTTTTAACTTCTTTTATTTTATTTTAATAAAAATATGAAAAAGATGTTTTCTTCCTAACATGAACAGTCCTACTGCAGAACTTCTTTTATTTTATTTTATTGAGACAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCACCTGGGCTCAAGCAATCCTCCTTCCTCAGCCCCCAAGTAGCTGGGATTACAGACGTGTACCACCACCCCCAGCTAATTTTTTGTAGAGACTGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCAGT... | pathogenic | 299,297 |
Evaluate the clinical significance of the mutation at chromosome 19, position 12656680 in gene MAN2B1 (mannosidase alpha class 2B member 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | AAGATGTTTTCTTCCTAACATGAACAGTCCTACTGCAGAACTTCTTTTATTTTATTTTATTGAGACAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCACCTGGGCTCAAGCAATCCTCCTTCCTCAGCCCCCAAGTAGCTGGGATTACAGACGTGTACCACCACCCCCAGCTAATTTTTTGTAGAGACTGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCAGTAGATCCACCCACCTCAGCCTCCCGTGGTGCTAGAATTACAGGTATAATC... | AAGATGTTTTCTTCCTAACATGAACAGTCCTACTGCAGAACTTCTTTTATTTTATTTTATTGAGACAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCACCTGGGCTCAAGCAATCCTCCTTCCTCAGCCCCCAAGTAGCTGGGATTACAGACGTGTACCACCACCCCCAGCTAATTTTTTGTAGAGACTGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCAGTAGATCCACCCACCTCAGCCTCCCGTGGTGCTAGAATTACAGGTATAATC... | pathogenic | 299,300 |
The mutation in gene MAN2B1 (mannosidase alpha class 2B member 1) at chromosome 19, position 12657058—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Deficiency_of_alpha-mannosidase'] | AGGATGGAGTACAGTGGGACAATCATTACTCACTGCAACCTCGAACTCCCCAGCTCAAACAAACCTCCCATCTGGGCCTCCCAATTAGCTGGGACAACTCCTGGGCTCAAGTGATCCTCCCGCTTCAGCCTCCCAAAGAGCTAGGAGTAGACACATGAGCAACAATGACTGGCAAAAGCCAAAGTCTTCCTGTTGGTCCTCAAGGCCCTCAAGGTCTGACCTGTCACCCGTTCACCCTGCTTCAGCCACACTGAGCTCCTTGTGGCTCCTGGAATTCTGCACACTCTCCTGCTCGAAGGCTTTTATGCCTGTTATTCTCT... | AGGATGGAGTACAGTGGGACAATCATTACTCACTGCAACCTCGAACTCCCCAGCTCAAACAAACCTCCCATCTGGGCCTCCCAATTAGCTGGGACAACTCCTGGGCTCAAGTGATCCTCCCGCTTCAGCCTCCCAAAGAGCTAGGAGTAGACACATGAGCAACAATGACTGGCAAAAGCCAAAGTCTTCCTGTTGGTCCTCAAGGCCCTCAAGGTCTGACCTGTCACCCGTTCACCCTGCTTCAGCCACACTGAGCTCCTTGTGGCTCCTGGAATTCTGCACACTCTCCTGCTCGAAGGCTTTTATGCCTGTTATTCTCT... | pathogenic | 299,305 |
Classify the chromosome 19 variant at position 12657460 affecting gene MAN2B1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | CACCTTCCCTGAAACGTCCCTGCCAAAATTGCGAACCACCACCTGCCACCAACTCTGACATGTCTGTCAAGTGTCACCCATGATCACACTGGGTCCTCATAACAGTCCCAGGAAAGGACACTGAGGCTCAGACAAAGGTCACTTGCTCAAGGACACACAATGAGGGGAGTTGTGACAGGAGGTCATAAGCCTAGGGACCTGCTGACCCAGAGTCCACACAGCTCACCATGACACTTCAAATTTGTCACAGGAGCAGGAAAGGGGATTGAAATGGGGTCTCACCTCATTTTCGATGGTTAAAGCAGGGGACCAGGATCTTC... | CACCTTCCCTGAAACGTCCCTGCCAAAATTGCGAACCACCACCTGCCACCAACTCTGACATGTCTGTCAAGTGTCACCCATGATCACACTGGGTCCTCATAACAGTCCCAGGAAAGGACACTGAGGCTCAGACAAAGGTCACTTGCTCAAGGACACACAATGAGGGGAGTTGTGACAGGAGGTCATAAGCCTAGGGACCTGCTGACCCAGAGTCCACACAGCTCACCATGACACTTCAAATTTGTCACAGGAGCAGGAAAGGGGATTGAAATGGGGTCTCACCTCATTTTCGATGGTTAAAGCAGGGGACCAGGATCTTC... | pathogenic | 299,308 |
The genetic variant at chromosome 19, position 12657475, affecting gene MAN2B1: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | GTCCCTGCCAAAATTGCGAACCACCACCTGCCACCAACTCTGACATGTCTGTCAAGTGTCACCCATGATCACACTGGGTCCTCATAACAGTCCCAGGAAAGGACACTGAGGCTCAGACAAAGGTCACTTGCTCAAGGACACACAATGAGGGGAGTTGTGACAGGAGGTCATAAGCCTAGGGACCTGCTGACCCAGAGTCCACACAGCTCACCATGACACTTCAAATTTGTCACAGGAGCAGGAAAGGGGATTGAAATGGGGTCTCACCTCATTTTCGATGGTTAAAGCAGGGGACCAGGATCTTCTGGGGATGGGCTGTG... | GTCCCTGCCAAAATTGCGAACCACCACCTGCCACCAACTCTGACATGTCTGTCAAGTGTCACCCATGATCACACTGGGTCCTCATAACAGTCCCAGGAAAGGACACTGAGGCTCAGACAAAGGTCACTTGCTCAAGGACACACAATGAGGGGAGTTGTGACAGGAGGTCATAAGCCTAGGGACCTGCTGACCCAGAGTCCACACAGCTCACCATGACACTTCAAATTTGTCACAGGAGCAGGAAAGGGGATTGAAATGGGGTCTCACCTCATTTTCGATGGTTAAAGCAGGGGACCAGGATCTTCTGGGGATGGGCTGTG... | pathogenic | 299,309 |
Is the chromosome 19, position 12657485 variant in MAN2B1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | AAATTGCGAACCACCACCTGCCACCAACTCTGACATGTCTGTCAAGTGTCACCCATGATCACACTGGGTCCTCATAACAGTCCCAGGAAAGGACACTGAGGCTCAGACAAAGGTCACTTGCTCAAGGACACACAATGAGGGGAGTTGTGACAGGAGGTCATAAGCCTAGGGACCTGCTGACCCAGAGTCCACACAGCTCACCATGACACTTCAAATTTGTCACAGGAGCAGGAAAGGGGATTGAAATGGGGTCTCACCTCATTTTCGATGGTTAAAGCAGGGGACCAGGATCTTCTGGGGATGGGCTGTGGTGCGCGGGC... | AAATTGCGAACCACCACCTGCCACCAACTCTGACATGTCTGTCAAGTGTCACCCATGATCACACTGGGTCCTCATAACAGTCCCAGGAAAGGACACTGAGGCTCAGACAAAGGTCACTTGCTCAAGGACACACAATGAGGGGAGTTGTGACAGGAGGTCATAAGCCTAGGGACCTGCTGACCCAGAGTCCACACAGCTCACCATGACACTTCAAATTTGTCACAGGAGCAGGAAAGGGGATTGAAATGGGGTCTCACCTCATTTTCGATGGTTAAAGCAGGGGACCAGGATCTTCTGGGGATGGGCTGTGGTGCGCGGGC... | pathogenic | 299,312 |
For chromosome 19, position 12658075, gene MAN2B1 (mannosidase alpha class 2B member 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Deficiency_of_alpha-mannosidase', 'Intellectual_disability'] | GGAAATGATTGCAGAGAAGATTCACCAGGTGGAAAAAAAAACCCACCGGGAGGGTGGAGAGACCATGGAGTCGGGGGAGTGAAGGAGGAAGTAGGGGAAGAAACCCTTGAGGCAGGTTCTCGGGGGAGGAAGAGGTTTGGGGGAGGACGTTTTCTGGAATGAAGGAGATGTCCATAAACAGCAATAAATTTTCCTGGGGAAGCGGGGTATTAAAATGGAGGACCAGCCAGGCACGGTGGCTCATGCCTATAATCCAGCAGGCGGAGTTTGAAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAG... | GGAAATGATTGCAGAGAAGATTCACCAGGTGGAAAAAAAAACCCACCGGGAGGGTGGAGAGACCATGGAGTCGGGGGAGTGAAGGAGGAAGTAGGGGAAGAAACCCTTGAGGCAGGTTCTCGGGGGAGGAAGAGGTTTGGGGGAGGACGTTTTCTGGAATGAAGGAGATGTCCATAAACAGCAATAAATTTTCCTGGGGAAGCGGGGTATTAAAATGGAGGACCAGCCAGGCACGGTGGCTCATGCCTATAATCCAGCAGGCGGAGTTTGAAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAG... | pathogenic | 299,319 |
Mutation at chromosome 19, position 12658230, within MAN2B1 (mannosidase alpha class 2B member 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Deficiency_of_alpha-mannosidase'] | GGAATGAAGGAGATGTCCATAAACAGCAATAAATTTTCCTGGGGAAGCGGGGTATTAAAATGGAGGACCAGCCAGGCACGGTGGCTCATGCCTATAATCCAGCAGGCGGAGTTTGAAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGGAGGACCACTCACAGGAGGCATATGTTCCCAAGGGGAGACTGATATTAAGGGGCAGAGGGAGAAGATACAAGAGGGGGGAAGAGATATGCATGAGTGGGAGGTATTCATGGAAGCAGGCGATATCCA... | GGAATGAAGGAGATGTCCATAAACAGCAATAAATTTTCCTGGGGAAGCGGGGTATTAAAATGGAGGACCAGCCAGGCACGGTGGCTCATGCCTATAATCCAGCAGGCGGAGTTTGAAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGGAGGACCACTCACAGGAGGCATATGTTCCCAAGGGGAGACTGATATTAAGGGGCAGAGGGAGAAGATACAAGAGGGGGGAAGAGATATGCATGAGTGGGAGGTATTCATGGAAGCAGGCGATATCCA... | pathogenic | 299,323 |
Evaluate this variant at chromosome 19, position 12658230, gene MAN2B1 (mannosidase alpha class 2B member 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | GGAATGAAGGAGATGTCCATAAACAGCAATAAATTTTCCTGGGGAAGCGGGGTATTAAAATGGAGGACCAGCCAGGCACGGTGGCTCATGCCTATAATCCAGCAGGCGGAGTTTGAAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGGAGGACCACTCACAGGAGGCATATGTTCCCAAGGGGAGACTGATATTAAGGGGCAGAGGGAGAAGATACAAGAGGGGGGAAGAGATATGCATGAGTGGGAGGTATTCATGGAAGCAGGCGATATCCA... | GGAATGAAGGAGATGTCCATAAACAGCAATAAATTTTCCTGGGGAAGCGGGGTATTAAAATGGAGGACCAGCCAGGCACGGTGGCTCATGCCTATAATCCAGCAGGCGGAGTTTGAAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGGAGGACCACTCACAGGAGGCATATGTTCCCAAGGGGAGACTGATATTAAGGGGCAGAGGGAGAAGATACAAGAGGGGGGAAGAGATATGCATGAGTGGGAGGTATTCATGGAAGCAGGCGATATCCA... | pathogenic | 299,324 |
Evaluate this variant at chromosome 19, position 12658256, gene MAN2B1 (mannosidase alpha class 2B member 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | CAATAAATTTTCCTGGGGAAGCGGGGTATTAAAATGGAGGACCAGCCAGGCACGGTGGCTCATGCCTATAATCCAGCAGGCGGAGTTTGAAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGGAGGACCACTCACAGGAGGCATATGTTCCCAAGGGGAGACTGATATTAAGGGGCAGAGGGAGAAGATACAAGAGGGGGGAAGAGATATGCATGAGTGGGAGGTATTCATGGAAGCAGGCGATATCCATGGGGGCGATGAGGAAATGCCCACTG... | CAATAAATTTTCCTGGGGAAGCGGGGTATTAAAATGGAGGACCAGCCAGGCACGGTGGCTCATGCCTATAATCCAGCAGGCGGAGTTTGAAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGGAGGACCACTCACAGGAGGCATATGTTCCCAAGGGGAGACTGATATTAAGGGGCAGAGGGAGAAGATACAAGAGGGGGGAAGAGATATGCATGAGTGGGAGGTATTCATGGAAGCAGGCGATATCCATGGGGGCGATGAGGAAATGCCCACTG... | pathogenic | 299,326 |
Determine whether the variant at chromosome 19, position 12658320, in gene MAN2B1 (mannosidase alpha class 2B member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Deficiency_of_alpha-mannosidase'] | CCTATAATCCAGCAGGCGGAGTTTGAAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGGAGGACCACTCACAGGAGGCATATGTTCCCAAGGGGAGACTGATATTAAGGGGCAGAGGGAGAAGATACAAGAGGGGGGAAGAGATATGCATGAGTGGGAGGTATTCATGGAAGCAGGCGATATCCATGGGGGCGATGAGGAAATGCCCACTGGGGGAGGAGTCCCAGCGGGGGAATATTCGTTGTTTGGGCTCACATCGCTGGGCACTGTCCTGCC... | CCTATAATCCAGCAGGCGGAGTTTGAAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGGAGGACCACTCACAGGAGGCATATGTTCCCAAGGGGAGACTGATATTAAGGGGCAGAGGGAGAAGATACAAGAGGGGGGAAGAGATATGCATGAGTGGGAGGTATTCATGGAAGCAGGCGATATCCATGGGGGCGATGAGGAAATGCCCACTGGGGGAGGAGTCCCAGCGGGGGAATATTCGTTGTTTGGGCTCACATCGCTGGGCACTGTCCTGCC... | pathogenic | 299,327 |
Does the genetic variant at chromosome 19, position 12658455, impacting gene MAN2B1 (mannosidase alpha class 2B member 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Deficiency_of_alpha-mannosidase'] | GGGGAGACTGATATTAAGGGGCAGAGGGAGAAGATACAAGAGGGGGGAAGAGATATGCATGAGTGGGAGGTATTCATGGAAGCAGGCGATATCCATGGGGGCGATGAGGAAATGCCCACTGGGGGAGGAGTCCCAGCGGGGGAATATTCGTTGTTTGGGCTCACATCGCTGGGCACTGTCCTGCCATTGGGGTCCTTCACAACGAAAACGCCTTCGCTGACCGGCAGCCGTACCATCCAATTCACCTTCCGCCCCAGGGGATTATAAACGATGACCTGGAACTGGGGAGGCGGGGGTCAGAGAGGGCATGGGTCACAGCA... | GGGGAGACTGATATTAAGGGGCAGAGGGAGAAGATACAAGAGGGGGGAAGAGATATGCATGAGTGGGAGGTATTCATGGAAGCAGGCGATATCCATGGGGGCGATGAGGAAATGCCCACTGGGGGAGGAGTCCCAGCGGGGGAATATTCGTTGTTTGGGCTCACATCGCTGGGCACTGTCCTGCCATTGGGGTCCTTCACAACGAAAACGCCTTCGCTGACCGGCAGCCGTACCATCCAATTCACCTTCCGCCCCAGGGGATTATAAACGATGACCTGGAACTGGGGAGGCGGGGGTCAGAGAGGGCATGGGTCACAGCA... | pathogenic | 299,331 |
Gene MAN2B1 (mannosidase alpha class 2B member 1) variant at chromosome position 12658488 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | ATACAAGAGGGGGGAAGAGATATGCATGAGTGGGAGGTATTCATGGAAGCAGGCGATATCCATGGGGGCGATGAGGAAATGCCCACTGGGGGAGGAGTCCCAGCGGGGGAATATTCGTTGTTTGGGCTCACATCGCTGGGCACTGTCCTGCCATTGGGGTCCTTCACAACGAAAACGCCTTCGCTGACCGGCAGCCGTACCATCCAATTCACCTTCCGCCCCAGGGGATTATAAACGATGACCTGGAACTGGGGAGGCGGGGGTCAGAGAGGGCATGGGTCACAGCAGGCCTTCTCCAAACCCACCCACTTTGCACAGAA... | ATACAAGAGGGGGGAAGAGATATGCATGAGTGGGAGGTATTCATGGAAGCAGGCGATATCCATGGGGGCGATGAGGAAATGCCCACTGGGGGAGGAGTCCCAGCGGGGGAATATTCGTTGTTTGGGCTCACATCGCTGGGCACTGTCCTGCCATTGGGGTCCTTCACAACGAAAACGCCTTCGCTGACCGGCAGCCGTACCATCCAATTCACCTTCCGCCCCAGGGGATTATAAACGATGACCTGGAACTGGGGAGGCGGGGGTCAGAGAGGGCATGGGTCACAGCAGGCCTTCTCCAAACCCACCCACTTTGCACAGAA... | pathogenic | 299,334 |
Variant in gene MAN2B1 (mannosidase alpha class 2B member 1), located at chromosome 19 position 12661316: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | CCCAATGTACACAGTAGGTGCTCAATAAACTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTGACTCTGTCGCCCAAGCTGGAGTGCAGTGGCACGATCTCAGCTGGCTGCAAACTCCGCCTCCCAGGTTCCAGCGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGTCTTACAGATGAGTGCCATCACGCCCACCTAATTTGTAGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGTCTTCAAGTGATCCGCCCACCTCAGATTACAATCCCAACACTTTGGGAGGCCAAGG... | CCCAATGTACACAGTAGGTGCTCAATAAACTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTGACTCTGTCGCCCAAGCTGGAGTGCAGTGGCACGATCTCAGCTGGCTGCAAACTCCGCCTCCCAGGTTCCAGCGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGTCTTACAGATGAGTGCCATCACGCCCACCTAATTTGTAGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGTCTTCAAGTGATCCGCCCACCTCAGATTACAATCCCAACACTTTGGGAGGCCAAGG... | pathogenic | 299,339 |
Assess the variant on chromosome 19, position 12661319, impacting MAN2B1 (mannosidase alpha class 2B member 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Deficiency_of_alpha-mannosidase'] | AATGTACACAGTAGGTGCTCAATAAACTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTGACTCTGTCGCCCAAGCTGGAGTGCAGTGGCACGATCTCAGCTGGCTGCAAACTCCGCCTCCCAGGTTCCAGCGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGTCTTACAGATGAGTGCCATCACGCCCACCTAATTTGTAGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGTCTTCAAGTGATCCGCCCACCTCAGATTACAATCCCAACACTTTGGGAGGCCAAGGCGG... | AATGTACACAGTAGGTGCTCAATAAACTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTGACTCTGTCGCCCAAGCTGGAGTGCAGTGGCACGATCTCAGCTGGCTGCAAACTCCGCCTCCCAGGTTCCAGCGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGTCTTACAGATGAGTGCCATCACGCCCACCTAATTTGTAGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGTCTTCAAGTGATCCGCCCACCTCAGATTACAATCCCAACACTTTGGGAGGCCAAGGCGG... | pathogenic | 299,340 |
A genetic variant at chromosome 19, position 12663329, affecting gene MAN2B1 (mannosidase alpha class 2B member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Deficiency_of_alpha-mannosidase'] | GAGCTTGTCAAGGTTCTTGAACCACATGTTGGCATTCTCATATTGGAAGTCCGAGCCCATGGTCATCACAGTGTGGTTGGTGCGGTAATACCGGCCCTGCAGGCAAGAGGGGAGTCCTGAAGCCAGAGGATCCTGGGCCATCCCTGTGTATAGCTGTGTTTTGATGTATATGGGGTCAAGGATGTTGGGTGCACAGGCATGGGTGGGGGTATGGCACTTGGGAGCGTGGGGACACAGATAAAAGTAGCCACCAGTTGTTGAGCAGTTCTCTTGGACCCACTACCTAGAAGAGGGCATCCAGTCACCATGCCATGCTATCT... | GAGCTTGTCAAGGTTCTTGAACCACATGTTGGCATTCTCATATTGGAAGTCCGAGCCCATGGTCATCACAGTGTGGTTGGTGCGGTAATACCGGCCCTGCAGGCAAGAGGGGAGTCCTGAAGCCAGAGGATCCTGGGCCATCCCTGTGTATAGCTGTGTTTTGATGTATATGGGGTCAAGGATGTTGGGTGCACAGGCATGGGTGGGGGTATGGCACTTGGGAGCGTGGGGACACAGATAAAAGTAGCCACCAGTTGTTGAGCAGTTCTCTTGGACCCACTACCTAGAAGAGGGCATCCAGTCACCATGCCATGCTATCT... | pathogenic | 299,346 |
Benign or pathogenic: chromosome 19, position 12663694, gene MAN2B1 (mannosidase alpha class 2B member 1) variant? Disease(s) if pathogenic? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | TCCAGGAGGGGGACATTGTGATGGTGAATAGAATAGCATCTTCCTCCAGGGGGCATGAGAACATGATTACAGGGGCTCACACCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGGATCGCTTGAGTCTAGGAGTTTAAGACCAACCTGGGCCACACAGCAAGACCCTGTCTCAAGAAAAAAAAAAAAAATTAATCTAAAACAATTTTTTTTTTGAGACAGAGTTTCACTCTGCTGCCCAAGCTAGAGTGAAGTGACGTGATCTCGGCTCACTGCAACCTCCACCTGCCAGGTTCAAGCGACTCTCTTGCCTTAGCC... | TCCAGGAGGGGGACATTGTGATGGTGAATAGAATAGCATCTTCCTCCAGGGGGCATGAGAACATGATTACAGGGGCTCACACCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGGATCGCTTGAGTCTAGGAGTTTAAGACCAACCTGGGCCACACAGCAAGACCCTGTCTCAAGAAAAAAAAAAAAAATTAATCTAAAACAATTTTTTTTTTGAGACAGAGTTTCACTCTGCTGCCCAAGCTAGAGTGAAGTGACGTGATCTCGGCTCACTGCAACCTCCACCTGCCAGGTTCAAGCGACTCTCTTGCCTTAGCC... | pathogenic | 299,353 |
Considering the genetic mutation at chromosome 19, position 12663798, impacting MAN2B1 (mannosidase alpha class 2B member 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Deficiency_of_alpha-mannosidase'] | GACTGAGGCAGGAGGATCGCTTGAGTCTAGGAGTTTAAGACCAACCTGGGCCACACAGCAAGACCCTGTCTCAAGAAAAAAAAAAAAAATTAATCTAAAACAATTTTTTTTTTGAGACAGAGTTTCACTCTGCTGCCCAAGCTAGAGTGAAGTGACGTGATCTCGGCTCACTGCAACCTCCACCTGCCAGGTTCAAGCGACTCTCTTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGTCATTTTGGCTATGCTGGTCTTGAACT... | GACTGAGGCAGGAGGATCGCTTGAGTCTAGGAGTTTAAGACCAACCTGGGCCACACAGCAAGACCCTGTCTCAAGAAAAAAAAAAAAAATTAATCTAAAACAATTTTTTTTTTGAGACAGAGTTTCACTCTGCTGCCCAAGCTAGAGTGAAGTGACGTGATCTCGGCTCACTGCAACCTCCACCTGCCAGGTTCAAGCGACTCTCTTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCGCCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGTCATTTTGGCTATGCTGGTCTTGAACT... | pathogenic | 299,358 |
The mutation impacting MAN2B1 (mannosidase alpha class 2B member 1) on chromosome 19 at position 12664860: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Deficiency_of_alpha-mannosidase'] | CCTCTAATCCCAGCTTCTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAATAATAATAAATAAATAAAAATGTTAAAAATAGAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGGCCGAGGCAAGCAGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGACAACATGATGAGACCCCAGTGCAAAAATACAAAAATTAGCTGGATGTGCTTGTT... | CCTCTAATCCCAGCTTCTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAATAATAATAAATAAATAAAAATGTTAAAAATAGAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGGCCGAGGCAAGCAGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGACAACATGATGAGACCCCAGTGCAAAAATACAAAAATTAGCTGGATGTGCTTGTT... | pathogenic | 299,366 |
Is the chromosome 19, position 12664983 variant in MAN2B1 (mannosidase alpha class 2B member 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | CTCAAAAAAAAAAAAATAATAATAAATAAATAAAAATGTTAAAAATAGAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGGCCGAGGCAAGCAGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGACAACATGATGAGACCCCAGTGCAAAAATACAAAAATTAGCTGGATGTGCTTGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTAAGACTGTCTCAAAAAAATTAAAAATAAGGAGAACGTGTTAGGGGATGCCTGTA... | CTCAAAAAAAAAAAAATAATAATAAATAAATAAAAATGTTAAAAATAGAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGGCCGAGGCAAGCAGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGACAACATGATGAGACCCCAGTGCAAAAATACAAAAATTAGCTGGATGTGCTTGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTAAGACTGTCTCAAAAAAATTAAAAATAAGGAGAACGTGTTAGGGGATGCCTGTA... | pathogenic | 299,370 |
Located at chromosome 19 position 12665361, the variant affecting gene MAN2B1 (mannosidase alpha class 2B member 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | TTACCTGGGCAGTGGCCACATTTAGGAAGTAATCGACCAGCTCCTTGGCGTTGTACTCGGGGCTGCGAGGGTCCTCCACCAGCGGCTGATCGACACACAGCACATCCCAGCACAGATTCCTTGGCGGGTTGTAACCATTGGGAAGCACACCTGCAGGTCACACCAAGTTCAAGGGGTGGCCCATCACCCAGACCTTCCCTGGTTTCAAAGCCGGCCATGTCCCACCCAGGATGGGCTTCAGAATTTGTGTCCCAATGCAAAAGGAAATGCAGGGCCTTTGTTCCCAGACTATAGGAATTCCAGGACAGTGACAACAGAGC... | TTACCTGGGCAGTGGCCACATTTAGGAAGTAATCGACCAGCTCCTTGGCGTTGTACTCGGGGCTGCGAGGGTCCTCCACCAGCGGCTGATCGACACACAGCACATCCCAGCACAGATTCCTTGGCGGGTTGTAACCATTGGGAAGCACACCTGCAGGTCACACCAAGTTCAAGGGGTGGCCCATCACCCAGACCTTCCCTGGTTTCAAAGCCGGCCATGTCCCACCCAGGATGGGCTTCAGAATTTGTGTCCCAATGCAAAAGGAAATGCAGGGCCTTTGTTCCCAGACTATAGGAATTCCAGGACAGTGACAACAGAGC... | pathogenic | 299,374 |
Clinically, how would you classify the variant at chromosome 19, position 12665365, gene MAN2B1 (mannosidase alpha class 2B member 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Deficiency_of_alpha-mannosidase'] | CTGGGCAGTGGCCACATTTAGGAAGTAATCGACCAGCTCCTTGGCGTTGTACTCGGGGCTGCGAGGGTCCTCCACCAGCGGCTGATCGACACACAGCACATCCCAGCACAGATTCCTTGGCGGGTTGTAACCATTGGGAAGCACACCTGCAGGTCACACCAAGTTCAAGGGGTGGCCCATCACCCAGACCTTCCCTGGTTTCAAAGCCGGCCATGTCCCACCCAGGATGGGCTTCAGAATTTGTGTCCCAATGCAAAAGGAAATGCAGGGCCTTTGTTCCCAGACTATAGGAATTCCAGGACAGTGACAACAGAGCAGAT... | CTGGGCAGTGGCCACATTTAGGAAGTAATCGACCAGCTCCTTGGCGTTGTACTCGGGGCTGCGAGGGTCCTCCACCAGCGGCTGATCGACACACAGCACATCCCAGCACAGATTCCTTGGCGGGTTGTAACCATTGGGAAGCACACCTGCAGGTCACACCAAGTTCAAGGGGTGGCCCATCACCCAGACCTTCCCTGGTTTCAAAGCCGGCCATGTCCCACCCAGGATGGGCTTCAGAATTTGTGTCCCAATGCAAAAGGAAATGCAGGGCCTTTGTTCCCAGACTATAGGAATTCCAGGACAGTGACAACAGAGCAGAT... | pathogenic | 299,375 |
Is the genetic change at chromosome 19, position 12665494, within gene MAN2B1 (mannosidase alpha class 2B member 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Deficiency_of_alpha-mannosidase'] | ACCATTGGGAAGCACACCTGCAGGTCACACCAAGTTCAAGGGGTGGCCCATCACCCAGACCTTCCCTGGTTTCAAAGCCGGCCATGTCCCACCCAGGATGGGCTTCAGAATTTGTGTCCCAATGCAAAAGGAAATGCAGGGCCTTTGTTCCCAGACTATAGGAATTCCAGGACAGTGACAACAGAGCAGATATCAAGCCCAGGGCCCTTCTGAGTGTGTGGCACCATGGCTGGCCCTGCCCTCACCAAGCCCCCTACCAGTGAAGAGGTCCGCGGTCGGGGGCTTCAGGCTGGTGCTGGCCCGCCACACCTGCTCCATCT... | ACCATTGGGAAGCACACCTGCAGGTCACACCAAGTTCAAGGGGTGGCCCATCACCCAGACCTTCCCTGGTTTCAAAGCCGGCCATGTCCCACCCAGGATGGGCTTCAGAATTTGTGTCCCAATGCAAAAGGAAATGCAGGGCCTTTGTTCCCAGACTATAGGAATTCCAGGACAGTGACAACAGAGCAGATATCAAGCCCAGGGCCCTTCTGAGTGTGTGGCACCATGGCTGGCCCTGCCCTCACCAAGCCCCCTACCAGTGAAGAGGTCCGCGGTCGGGGGCTTCAGGCTGGTGCTGGCCCGCCACACCTGCTCCATCT... | pathogenic | 299,379 |
Does the chromosome 19 mutation at position 12665723 within gene MAN2B1 (mannosidase alpha class 2B member 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Deficiency_of_alpha-mannosidase'] | CTGGCCCTGCCCTCACCAAGCCCCCTACCAGTGAAGAGGTCCGCGGTCGGGGGCTTCAGGCTGGTGCTGGCCCGCCACACCTGCTCCATCTCCAGCTTCTGCATCCGTACCCACTTATCTTGATAATCAAGGCGCCCAAAGAAGAAGCCGTCGAAGCCCATCTGGGGATGAGGGAGGAAAAGGCAGTGTGAATTAGTGCCCAGCCCTCTCACCACCAAACTCCCCTCTGCTTGGGAGGGGCAGGTCAGAGCACAGGTTAAAAAGCAGTGCTAGGTCGATGTGGTGGCTCTTGCCTATGATCCCAGCCTTCTGGGAGGCCA... | CTGGCCCTGCCCTCACCAAGCCCCCTACCAGTGAAGAGGTCCGCGGTCGGGGGCTTCAGGCTGGTGCTGGCCCGCCACACCTGCTCCATCTCCAGCTTCTGCATCCGTACCCACTTATCTTGATAATCAAGGCGCCCAAAGAAGAAGCCGTCGAAGCCCATCTGGGGATGAGGGAGGAAAAGGCAGTGTGAATTAGTGCCCAGCCCTCTCACCACCAAACTCCCCTCTGCTTGGGAGGGGCAGGTCAGAGCACAGGTTAAAAAGCAGTGCTAGGTCGATGTGGTGGCTCTTGCCTATGATCCCAGCCTTCTGGGAGGCCA... | pathogenic | 299,384 |
Regarding the variant found on chromosome 19 at position 12665802 in gene MAN2B1 (mannosidase alpha class 2B member 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Deficiency_of_alpha-mannosidase'] | CCTGCTCCATCTCCAGCTTCTGCATCCGTACCCACTTATCTTGATAATCAAGGCGCCCAAAGAAGAAGCCGTCGAAGCCCATCTGGGGATGAGGGAGGAAAAGGCAGTGTGAATTAGTGCCCAGCCCTCTCACCACCAAACTCCCCTCTGCTTGGGAGGGGCAGGTCAGAGCACAGGTTAAAAAGCAGTGCTAGGTCGATGTGGTGGCTCTTGCCTATGATCCCAGCCTTCTGGGAGGCCAAAACAGGAGGATCACTTAAACCCAGGAGTTTTTGAGACCAGCCTGCACAACACGGGCAGACTGTCTACAAAAAATTTAA... | CCTGCTCCATCTCCAGCTTCTGCATCCGTACCCACTTATCTTGATAATCAAGGCGCCCAAAGAAGAAGCCGTCGAAGCCCATCTGGGGATGAGGGAGGAAAAGGCAGTGTGAATTAGTGCCCAGCCCTCTCACCACCAAACTCCCCTCTGCTTGGGAGGGGCAGGTCAGAGCACAGGTTAAAAAGCAGTGCTAGGTCGATGTGGTGGCTCTTGCCTATGATCCCAGCCTTCTGGGAGGCCAAAACAGGAGGATCACTTAAACCCAGGAGTTTTTGAGACCAGCCTGCACAACACGGGCAGACTGTCTACAAAAAATTTAA... | pathogenic | 299,388 |
The chromosome 19, position 12666595 genetic variant in gene MAN2B1 (mannosidase alpha class 2B member 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Deficiency_of_alpha-mannosidase'] | AGAGGGGCCTATTAGGGGAGAGGGCGGAGCCAGCCGGAGCTGGGTCAGCCTGGGCTGGGCATAGCCGGCTGAGGCCAGAGCTCAAAAGCCACTGGCTTTACGGCTCACTCAAGGGGCAGGGCTTCAACAGGCCTAGGCCTGGGCCTGGTCCTTGTGAGATTGCAGGGAGAGGGCGGGGTTTGACTGGGCGAGGGAGGAGCCAGAGTGAGTGAAGAAGTGGGCCCAAGAGAGGTCCCGGGTCGCACCTGCGCAAACAGCGAGGCCTGCTCCCGAGAGTGGCCGAAGGGGTCAATGTGCCAGGCCACACGGGGTCGCCCATC... | AGAGGGGCCTATTAGGGGAGAGGGCGGAGCCAGCCGGAGCTGGGTCAGCCTGGGCTGGGCATAGCCGGCTGAGGCCAGAGCTCAAAAGCCACTGGCTTTACGGCTCACTCAAGGGGCAGGGCTTCAACAGGCCTAGGCCTGGGCCTGGTCCTTGTGAGATTGCAGGGAGAGGGCGGGGTTTGACTGGGCGAGGGAGGAGCCAGAGTGAGTGAAGAAGTGGGCCCAAGAGAGGTCCCGGGTCGCACCTGCGCAAACAGCGAGGCCTGCTCCCGAGAGTGGCCGAAGGGGTCAATGTGCCAGGCCACACGGGGTCGCCCATC... | pathogenic | 299,392 |
Determine if the mutation at chromosome 19, position 12666648 in gene MAN2B1 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Deficiency_of_alpha-mannosidase'] | GCTGGGCATAGCCGGCTGAGGCCAGAGCTCAAAAGCCACTGGCTTTACGGCTCACTCAAGGGGCAGGGCTTCAACAGGCCTAGGCCTGGGCCTGGTCCTTGTGAGATTGCAGGGAGAGGGCGGGGTTTGACTGGGCGAGGGAGGAGCCAGAGTGAGTGAAGAAGTGGGCCCAAGAGAGGTCCCGGGTCGCACCTGCGCAAACAGCGAGGCCTGCTCCCGAGAGTGGCCGAAGGGGTCAATGTGCCAGGCCACACGGGGTCGCCCATCATTGCCAAATGTGTCCTCCAGAAAGCGCAGCCCAAGTGTCATCTGGTCCACGA... | GCTGGGCATAGCCGGCTGAGGCCAGAGCTCAAAAGCCACTGGCTTTACGGCTCACTCAAGGGGCAGGGCTTCAACAGGCCTAGGCCTGGGCCTGGTCCTTGTGAGATTGCAGGGAGAGGGCGGGGTTTGACTGGGCGAGGGAGGAGCCAGAGTGAGTGAAGAAGTGGGCCCAAGAGAGGTCCCGGGTCGCACCTGCGCAAACAGCGAGGCCTGCTCCCGAGAGTGGCCGAAGGGGTCAATGTGCCAGGCCACACGGGGTCGCCCATCATTGCCAAATGTGTCCTCCAGAAAGCGCAGCCCAAGTGTCATCTGGTCCACGA... | pathogenic | 299,394 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 12676113, gene DHPS (deoxyhypusine synthase): what disease(s) if pathogenic? | pathogenic; ['DHPS-related_disorder', 'Neurodevelopmental_disorder_with_seizures_and_speech_and_walking_impairment'] | TGTAGCCTGCGCATGCATCAGTCAGGAAACAAAGGCTTCAGGGTGGCGGCAGGTGCGGCAAGATCCGGGGTCAGGCTGGGCTGCAGATGCCAGGCCGAGCAACTGGCACTGACCCCTGGGCAAGGGGGAGCCGACGGCCATGTCTAACCTTGGGTGAGATAGGGCTGCAGTCATTCAAGAAACTGGAGCTACATCTTAGCATCCCTGTGCATGGTTTCAAGCCCTGAGCCCTGTCCTTGACATGTCCCAGCCTGGTGGGGAGTCAGGCCAGAAACAGACCATCCTGGTGTAGTGGGGTCAGAGCCGGGGGAATCTCGGCA... | TGTAGCCTGCGCATGCATCAGTCAGGAAACAAAGGCTTCAGGGTGGCGGCAGGTGCGGCAAGATCCGGGGTCAGGCTGGGCTGCAGATGCCAGGCCGAGCAACTGGCACTGACCCCTGGGCAAGGGGGAGCCGACGGCCATGTCTAACCTTGGGTGAGATAGGGCTGCAGTCATTCAAGAAACTGGAGCTACATCTTAGCATCCCTGTGCATGGTTTCAAGCCCTGAGCCCTGTCCTTGACATGTCCCAGCCTGGTGGGGAGTCAGGCCAGAAACAGACCATCCTGGTGTAGTGGGGTCAGAGCCGGGGGAATCTCGGCA... | pathogenic | 299,397 |
Variant in RNASEH2A (ribonuclease H2 subunit A), chromosome 19, position 12807209—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Aicardi-Goutieres_syndrome_4', 'Aicardi_Goutieres_syndrome', 'RNASEH2A-related_disorder', 'RNASEH2A-related_type_1_interferonopathy'] | AAAAGTGGAGGGGGAGGCGAAGAGGAGTAAAAGGAGATAAAGAGACAATGAACTAGGACCCTGAGGAAGGGGCATGAGCCTGGTAAGGGGCGGGAACCCACAGGCAGAGGACATGAGCCCCAGTGAGCCCAGGGAATAGAAGTGGTGGATGCCAGGCACTGTGGCTGGCTCAGGCTTGTAATCCCAACACTTTGGGAGGCTGAGGCGACCGGATCGCTTGAGCCCAGGAGTTTGAAGCCAGCCTGGGCAACATAATGAGACCCCGTCTCTACAAAAAATACCAAAAATAGTCGGGCATGGTGGTGTGGTGTGCACCTGTA... | AAAAGTGGAGGGGGAGGCGAAGAGGAGTAAAAGGAGATAAAGAGACAATGAACTAGGACCCTGAGGAAGGGGCATGAGCCTGGTAAGGGGCGGGAACCCACAGGCAGAGGACATGAGCCCCAGTGAGCCCAGGGAATAGAAGTGGTGGATGCCAGGCACTGTGGCTGGCTCAGGCTTGTAATCCCAACACTTTGGGAGGCTGAGGCGACCGGATCGCTTGAGCCCAGGAGTTTGAAGCCAGCCTGGGCAACATAATGAGACCCCGTCTCTACAAAAAATACCAAAAATAGTCGGGCATGGTGGTGTGGTGTGCACCTGTA... | pathogenic | 299,414 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 12810354, gene RNASEH2A (ribonuclease H2 subunit A): what disease(s) if pathogenic? | pathogenic; ['Aicardi-Goutieres_syndrome_4'] | ATCAGATACGTCTGGAGTGCCTCGGGCATATTCATTGCTACTGTTGATTTCGTGCTCCTGTTTCTGCCCTAAATGTGTGCCACACTGACGACCACAGTGTAGCCCCTAGTCCCGTCTCCATCTAATCTCTCCCTCATCCTAAAGGCTCAGTCTCCAGAACAAATCCTACATTGTCTACCTGTCACCTCTGTCCTAGCCCAGGACACCCCCCACTCCCTGGACACCTGCTGAGTGTCGTCTCTCGTCCCTCACCCTCCTATCCCCTCCAATCTGTTCCCCAAGCAGCAACAGAAGGTAGTCTTTTTGAAATGCACATCTCG... | ATCAGATACGTCTGGAGTGCCTCGGGCATATTCATTGCTACTGTTGATTTCGTGCTCCTGTTTCTGCCCTAAATGTGTGCCACACTGACGACCACAGTGTAGCCCCTAGTCCCGTCTCCATCTAATCTCTCCCTCATCCTAAAGGCTCAGTCTCCAGAACAAATCCTACATTGTCTACCTGTCACCTCTGTCCTAGCCCAGGACACCCCCCACTCCCTGGACACCTGCTGAGTGTCGTCTCTCGTCCCTCACCCTCCTATCCCCTCCAATCTGTTCCCCAAGCAGCAACAGAAGGTAGTCTTTTTGAAATGCACATCTCG... | pathogenic | 299,420 |
A genetic variant at chromosome 19, position 12851994, affecting gene MAST1 (microtubule associated serine/threonine kinase 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Mega-corpus-callosum_syndrome_with_cerebellar_hypoplasia_and_cortical_malformations'] | CACCACCATGCCTGGCTAATTTTTGTATTTTTAGTCGAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTTAGGTGATCCACCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCCCCACCAATATTTATTAAGCACCTACTATGGGCCTGGCACTAGCCTAAAAGCTGGGAAATCAACTGGAAATAAAACAAAAATTCTTGTCTTTGGAGAGCTGACATTCTATTAATAGCAGGAAGAGACAGAAGATAAACAATAGGCGTTAGAAGCTAACCCCTGTAATC... | CACCACCATGCCTGGCTAATTTTTGTATTTTTAGTCGAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTTAGGTGATCCACCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCCCCACCAATATTTATTAAGCACCTACTATGGGCCTGGCACTAGCCTAAAAGCTGGGAAATCAACTGGAAATAAAACAAAAATTCTTGTCTTTGGAGAGCTGACATTCTATTAATAGCAGGAAGAGACAGAAGATAAACAATAGGCGTTAGAAGCTAACCCCTGTAATC... | pathogenic | 299,441 |
The chromosome 19, position 12891381 genetic variant in gene GCDH: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Glutaric_aciduria,_type_1'] | AGGCACACAGTTATACAATCCTACTGACACAATTTAGCCGTAATTGAGCAGACACACATGGGGAGTCAGATACATTGTCACAGAACTTTTTTTTTTTAGATAGTGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATTTTGGCTCACTGCAACCTCCACCTCCTAGGCTCAAGTGATTCCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCTACCACGCCACGCTAATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCA... | AGGCACACAGTTATACAATCCTACTGACACAATTTAGCCGTAATTGAGCAGACACACATGGGGAGTCAGATACATTGTCACAGAACTTTTTTTTTTTAGATAGTGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATTTTGGCTCACTGCAACCTCCACCTCCTAGGCTCAAGTGATTCCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCTACCACGCCACGCTAATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCA... | pathogenic | 299,486 |
Classify the chromosome 19 variant at position 12891900 affecting gene GCDH as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Glutaric_aciduria,_type_1'] | GGCATGAGCCGCCCCAGCCAGTCAAAACCTACACTTTATACAGTCACACCACCGGTCACTTTTACAATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATC... | GGCATGAGCCGCCCCAGCCAGTCAAAACCTACACTTTATACAGTCACACCACCGGTCACTTTTACAATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATC... | pathogenic | 299,506 |
Is the chromosome 19, position 12891920 variant in GCDH clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Glutaric_aciduria,_type_1'] | GTCAAAACCTACACTTTATACAGTCACACCACCGGTCACTTTTACAATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGA... | GTCAAAACCTACACTTTATACAGTCACACCACCGGTCACTTTTACAATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGA... | pathogenic | 299,507 |
A genetic variant at chromosome 19, position 12892171, affecting gene GCDH (glutaryl-CoA dehydrogenase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Glutaric_aciduria,_type_1'] | GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAAGAAAAAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGTAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGATGGCATGCTTCAGT... | GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAAGAAAAAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGTAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGATGGCATGCTTCAGT... | pathogenic | 299,520 |
Gene GCDH (glutaryl-CoA dehydrogenase) variant at chromosome position 12893488 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glutaric_aciduria,_type_1'] | GGGGTTTAGGGACTTTCCGGGGTGACTTTCCCGTTCTGTGCTTGCAGAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGG... | GGGGTTTAGGGACTTTCCGGGGTGACTTTCCCGTTCTGTGCTTGCAGAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGG... | pathogenic | 299,526 |
Mutation at chromosome 19, position 12893650, within GCDH (glutaryl-CoA dehydrogenase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Glutaric_aciduria,_type_1'] | TCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCAC... | TCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCTCATCAGGGACACCTTCCGCAC... | pathogenic | 299,547 |
The genetic variant at chromosome 19, position 12896025, affecting gene GCDH (glutaryl-CoA dehydrogenase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Glutaric_aciduria,_type_1'] | GATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGG... | GATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGG... | pathogenic | 299,563 |
Mutation at chromosome 19, position 12896037, within GCDH (glutaryl-CoA dehydrogenase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Glutaric_aciduria,_type_1'] | CCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACA... | CCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACA... | pathogenic | 299,564 |
A genetic alteration at chromosome 19, position 12896199, in gene GCDH (glutaryl-CoA dehydrogenase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Glutaric_aciduria,_type_1'] | TTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTAT... | TTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTAT... | pathogenic | 299,571 |
A mutation at chromosome position 12896416 on chromosome 19 in gene GCDH (glutaryl-CoA dehydrogenase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Glutaric_aciduria,_type_1'] | AGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCT... | AGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCT... | pathogenic | 299,594 |
Does the variant impacting GCDH (glutaryl-CoA dehydrogenase) on chromosome 19, position 12896417, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glutaric_aciduria,_type_1'] | GGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTG... | GGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTG... | pathogenic | 299,595 |
For chromosome 19, position 12896929, gene GCDH (glutaryl-CoA dehydrogenase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Glutaric_aciduria,_type_1'] | GATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTC... | GATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTC... | pathogenic | 299,600 |
The genetic variant at chromosome 19, position 12896988, affecting gene GCDH (glutaryl-CoA dehydrogenase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Glutaric_aciduria,_type_1'] | CTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAA... | CTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAA... | pathogenic | 299,614 |
Variant at chromosome position 12897786, chromosome 19, gene GCDH (glutaryl-CoA dehydrogenase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['GCDH-related_disorder', 'Glutaric_aciduria,_type_1'] | AGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCA... | AGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCA... | pathogenic | 299,642 |
Evaluate this variant at chromosome 19, position 12897786, gene GCDH (glutaryl-CoA dehydrogenase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Glutaric_aciduria,_type_1'] | AGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCA... | AGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCA... | pathogenic | 299,643 |
A mutation at chromosome position 12897818 on chromosome 19 in gene GCDH (glutaryl-CoA dehydrogenase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Glutaric_aciduria,_type_1'] | TCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAAC... | TCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAAC... | pathogenic | 299,652 |
Determine if the mutation at chromosome 19, position 12897832 in gene GCDH (glutaryl-CoA dehydrogenase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Glutaric_aciduria,_type_1'] | TTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAACAAGAGCTACACCCT... | TTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAACAAGAGCTACACCCT... | pathogenic | 299,657 |
A genetic alteration at chromosome 19, position 12943750, in gene CALR (calreticulin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Primary_myelofibrosis', 'Thrombocythemia_1'] | CTCCATCTCCTGACCTCATGAACCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTCACCCAGCCTTTTTGTAGAGACAGGGCTTCATGTTGCCCAGGTTGGTCTCGAACTCCTGGCCTCAGGTCATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGGGTTAGCCACCATGCCTAGCCTCTACAAAAACTTTAAAAATTGGCGAGATGTCATGCATACCTGTAGTCCCAACTACCAAGGAAGAAGGATGATCACTTGAGCCTGGGGCATCGAGGCTGCAGTGAGCCATGATTATGT... | CTCCATCTCCTGACCTCATGAACCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTCACCCAGCCTTTTTGTAGAGACAGGGCTTCATGTTGCCCAGGTTGGTCTCGAACTCCTGGCCTCAGGTCATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGGGTTAGCCACCATGCCTAGCCTCTACAAAAACTTTAAAAATTGGCGAGATGTCATGCATACCTGTAGTCCCAACTACCAAGGAAGAAGGATGATCACTTGAGCCTGGGGCATCGAGGCTGCAGTGAGCCATGATTATGT... | pathogenic | 299,688 |
Variant in CALR (calreticulin), chromosome 19, position 12943813—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Primary_myelofibrosis', 'Thrombocythemia_1'] | GAGCCACCTCACCCAGCCTTTTTGTAGAGACAGGGCTTCATGTTGCCCAGGTTGGTCTCGAACTCCTGGCCTCAGGTCATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGGGTTAGCCACCATGCCTAGCCTCTACAAAAACTTTAAAAATTGGCGAGATGTCATGCATACCTGTAGTCCCAACTACCAAGGAAGAAGGATGATCACTTGAGCCTGGGGCATCGAGGCTGCAGTGAGCCATGATTATGTCACTGCACTCCAGCCTCGGTGACAGAGTGAGACCCTCTCAAAAAAAGTTGGGACTTGGCCGGA... | GAGCCACCTCACCCAGCCTTTTTGTAGAGACAGGGCTTCATGTTGCCCAGGTTGGTCTCGAACTCCTGGCCTCAGGTCATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGGGTTAGCCACCATGCCTAGCCTCTACAAAAACTTTAAAAATTGGCGAGATGTCATGCATACCTGTAGTCCCAACTACCAAGGAAGAAGGATGATCACTTGAGCCTGGGGCATCGAGGCTGCAGTGAGCCATGATTATGTCACTGCACTCCAGCCTCGGTGACAGAGTGAGACCCTCTCAAAAAAAGTTGGGACTTGGCCGGA... | pathogenic | 299,690 |
A mutation at chromosome position 13024113 on chromosome 19 in gene NFIX (nuclear factor I X): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | AATTAAATGCCTGTGCAGTGGTGAGGGGCGTTGGTCAGATTCCTTGCCTCTGCTCAGAGGTAGTGTCCATCTTTTTGCCTTTGTCACTTCTCCCCGGGTCTGGCTGTTGTTTGTGGCTGCGTGTAGAGCTTGTCAGGCGGAGTGCTGTGACAGGAGGCTATTTTAATAAACTGTTGCAGTTTCTCGAGCCGAGCTGTGTTGCGTTGGCATCCCTCGTCACCGCTAATGGAGTGTGCGTGGCTGGGTGTGGGCCGAAGGAGGAGGCTGAGCTTGCTGGGGGCTGGGGGAGAAGGGAGGGACGTGTGGGGTGCTGGCCTCCC... | AATTAAATGCCTGTGCAGTGGTGAGGGGCGTTGGTCAGATTCCTTGCCTCTGCTCAGAGGTAGTGTCCATCTTTTTGCCTTTGTCACTTCTCCCCGGGTCTGGCTGTTGTTTGTGGCTGCGTGTAGAGCTTGTCAGGCGGAGTGCTGTGACAGGAGGCTATTTTAATAAACTGTTGCAGTTTCTCGAGCCGAGCTGTGTTGCGTTGGCATCCCTCGTCACCGCTAATGGAGTGTGCGTGGCTGGGTGTGGGCCGAAGGAGGAGGCTGAGCTTGCTGGGGGCTGGGGGAGAAGGGAGGGACGTGTGGGGTGCTGGCCTCCC... | benign | 299,692 |
Chromosome 19, position 13025033, gene NFIX (nuclear factor I X): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Malan_overgrowth_syndrome', 'Marshall-Smith_syndrome'] | TCGCCCGGTTCCCTCCTCCCCTTGGACGCAGCCATTGGCTGCTCGTGGATGTCTCTTTGCCAAATAGGTGGATCCTTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCCCCCCACCCCTTTTTACTGGCTTGGCACAAGCAAATGGATGGGGATTGAGCCTGAAAGGAGAGAGAGAGAGGGAGTTTGAGAGAGAGAAAAGGAGCAAAAAAAAAAAACACCCCAAAAACCCAACCAGTGCGCACACACACGCGCACACTCACACACACGCCCCATCCCATCCACGTCCTCCCTCGATCCTCGATC... | TCGCCCGGTTCCCTCCTCCCCTTGGACGCAGCCATTGGCTGCTCGTGGATGTCTCTTTGCCAAATAGGTGGATCCTTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCCCCCCACCCCTTTTTACTGGCTTGGCACAAGCAAATGGATGGGGATTGAGCCTGAAAGGAGAGAGAGAGAGGGAGTTTGAGAGAGAGAAAAGGAGCAAAAAAAAAAAACACCCCAAAAACCCAACCAGTGCGCACACACACGCGCACACTCACACACACGCCCCATCCCATCCACGTCCTCCCTCGATCCTCGATC... | pathogenic | 299,694 |
Located at chromosome 19 position 13025290, the variant affecting gene NFIX (nuclear factor I X)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Malan_overgrowth_syndrome', 'Marshall-Smith_syndrome'] | ACACACACGCGCACACTCACACACACGCCCCATCCCATCCACGTCCTCCCTCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGT... | ACACACACGCGCACACTCACACACACGCCCCATCCCATCCACGTCCTCCCTCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGT... | pathogenic | 299,701 |
The chromosome 19, position 13025466 genetic variant in gene NFIX (nuclear factor I X): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Intellectual_disability', 'Malan_overgrowth_syndrome'] | CTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTTTTAAATTTTGCATTTTTTTCTTTTTTTTTTTTTTTAAACTGGAAGAGGATGCACAGGGGAAGAAATTGAAAAAAAAATTTTGTTGGCTTTTGTTTACCTGGCGTGTGTGGCAGCCGGCTCGCTCCCT... | CTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTTTTAAATTTTGCATTTTTTTCTTTTTTTTTTTTTTTAAACTGGAAGAGGATGCACAGGGGAAGAAATTGAAAAAAAAATTTTGTTGGCTTTTGTTTACCTGGCGTGTGTGGCAGCCGGCTCGCTCCCT... | pathogenic | 299,709 |
Does the chromosome 19 mutation at position 13081683 within gene NFIX (nuclear factor I X) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Marshall-Smith_syndrome', 'NFIX-related_disorder'] | CAGCCGGTGCTGGGGCAGGGTGTGGTGGCCGCGAGGTGGGGGTGGGGAGCCCAGGCCCTCTACACAGGCAGCAGGAGGGCGCAGGCCTGGCTCCTCCGGCTCCACCTCAGCTTTTATGAACTCCAGAGAGAAGCCAAGTTTCCTCAGCCCCCTAATGAAACCGAGAGCAAGAGCGAGCTGATTGGAAACAGACGGGAGGAGGAAGAGCTGGGGCCTGCTCTGGGTTGGGAATTGCGTGTGCAAGGACGCGTATGTGAGGACACGTGTGTGAGTGATGAGGCTGAGCACATGAGAACACCGCCTAGGTGGCGGTGGCTGGG... | CAGCCGGTGCTGGGGCAGGGTGTGGTGGCCGCGAGGTGGGGGTGGGGAGCCCAGGCCCTCTACACAGGCAGCAGGAGGGCGCAGGCCTGGCTCCTCCGGCTCCACCTCAGCTTTTATGAACTCCAGAGAGAAGCCAAGTTTCCTCAGCCCCCTAATGAAACCGAGAGCAAGAGCGAGCTGATTGGAAACAGACGGGAGGAGGAAGAGCTGGGGCCTGCTCTGGGTTGGGAATTGCGTGTGCAAGGACGCGTATGTGAGGACACGTGTGTGAGTGATGAGGCTGAGCACATGAGAACACCGCCTAGGTGGCGGTGGCTGGG... | pathogenic | 299,726 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 13207857, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A). What disease(s) is it linked to if pathogenic? | benign | GGTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCGTGGCTAATTTTTGTATTTGTAGTAAAGACGGCGTTTCACTATGTTGGCCAGGCTGGTTGTGAACTCCTGACCTCATGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCTGCCTTTTTTTTTTTTATTTTGAGACAAGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCTAACCTCCGCCTCTCAGGCTCAGGTGATTCTCATG... | GGTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCGTGGCTAATTTTTGTATTTGTAGTAAAGACGGCGTTTCACTATGTTGGCCAGGCTGGTTGTGAACTCCTGACCTCATGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCTGCCTTTTTTTTTTTTATTTTGAGACAAGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCTAACCTCCGCCTCTCAGGCTCAGGTGATTCTCATG... | benign | 299,783 |
Gene CACNA1A variant at chromosome 19, position 13207858—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCGTGGCTAATTTTTGTATTTGTAGTAAAGACGGCGTTTCACTATGTTGGCCAGGCTGGTTGTGAACTCCTGACCTCATGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCTGCCTTTTTTTTTTTTATTTTGAGACAAGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCTAACCTCCGCCTCTCAGGCTCAGGTGATTCTCATGC... | GTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCGTGGCTAATTTTTGTATTTGTAGTAAAGACGGCGTTTCACTATGTTGGCCAGGCTGGTTGTGAACTCCTGACCTCATGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCTGCCTTTTTTTTTTTTATTTTGAGACAAGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCTAACCTCCGCCTCTCAGGCTCAGGTGATTCTCATGC... | benign | 299,784 |
A genetic variant on chromosome 19, position 13207858, affects the gene CACNA1A. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCGTGGCTAATTTTTGTATTTGTAGTAAAGACGGCGTTTCACTATGTTGGCCAGGCTGGTTGTGAACTCCTGACCTCATGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCTGCCTTTTTTTTTTTTATTTTGAGACAAGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCTAACCTCCGCCTCTCAGGCTCAGGTGATTCTCATGC... | GTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCGTGGCTAATTTTTGTATTTGTAGTAAAGACGGCGTTTCACTATGTTGGCCAGGCTGGTTGTGAACTCCTGACCTCATGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCTGCCTTTTTTTTTTTTATTTTGAGACAAGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCTAACCTCCGCCTCTCAGGCTCAGGTGATTCTCATGC... | benign | 299,785 |
Evaluate if the mutation on chromosome 19 at position 13207858 in CACNA1A is benign or pathogenic. Disease name(s) if pathogenic? | benign | GTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCGTGGCTAATTTTTGTATTTGTAGTAAAGACGGCGTTTCACTATGTTGGCCAGGCTGGTTGTGAACTCCTGACCTCATGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCTGCCTTTTTTTTTTTTATTTTGAGACAAGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCTAACCTCCGCCTCTCAGGCTCAGGTGATTCTCATGC... | GTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCGTGGCTAATTTTTGTATTTGTAGTAAAGACGGCGTTTCACTATGTTGGCCAGGCTGGTTGTGAACTCCTGACCTCATGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCTGCCTTTTTTTTTTTTATTTTGAGACAAGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCTAACCTCCGCCTCTCAGGCTCAGGTGATTCTCATGC... | benign | 299,786 |
Benign or pathogenic: chromosome 19, position 13207858, gene CACNA1A variant? Disease(s) if pathogenic? | benign | GTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCGTGGCTAATTTTTGTATTTGTAGTAAAGACGGCGTTTCACTATGTTGGCCAGGCTGGTTGTGAACTCCTGACCTCATGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCTGCCTTTTTTTTTTTTATTTTGAGACAAGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCTAACCTCCGCCTCTCAGGCTCAGGTGATTCTCATGC... | GTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCGTGGCTAATTTTTGTATTTGTAGTAAAGACGGCGTTTCACTATGTTGGCCAGGCTGGTTGTGAACTCCTGACCTCATGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCTGCCTTTTTTTTTTTTATTTTGAGACAAGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCTAACCTCCGCCTCTCAGGCTCAGGTGATTCTCATGC... | benign | 299,787 |
Clinical significance of chromosome 19, position 13207858, gene CACNA1A: benign or pathogenic? Name the disease(s) if pathogenic. | benign | GTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCGTGGCTAATTTTTGTATTTGTAGTAAAGACGGCGTTTCACTATGTTGGCCAGGCTGGTTGTGAACTCCTGACCTCATGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCTGCCTTTTTTTTTTTTATTTTGAGACAAGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCTAACCTCCGCCTCTCAGGCTCAGGTGATTCTCATGC... | GTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCGTGGCTAATTTTTGTATTTGTAGTAAAGACGGCGTTTCACTATGTTGGCCAGGCTGGTTGTGAACTCCTGACCTCATGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCTGCCTTTTTTTTTTTTATTTTGAGACAAGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCTAACCTCCGCCTCTCAGGCTCAGGTGATTCTCATGC... | benign | 299,788 |
Variant on chromosome 19, at position 13207858, affecting CACNA1A: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCGTGGCTAATTTTTGTATTTGTAGTAAAGACGGCGTTTCACTATGTTGGCCAGGCTGGTTGTGAACTCCTGACCTCATGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCTGCCTTTTTTTTTTTTATTTTGAGACAAGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCTAACCTCCGCCTCTCAGGCTCAGGTGATTCTCATGC... | GTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCGTGGCTAATTTTTGTATTTGTAGTAAAGACGGCGTTTCACTATGTTGGCCAGGCTGGTTGTGAACTCCTGACCTCATGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCTGCCTTTTTTTTTTTTATTTTGAGACAAGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCTAACCTCCGCCTCTCAGGCTCAGGTGATTCTCATGC... | benign | 299,789 |
Determine if the mutation at chromosome 19, position 13208879 in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TTTGCCGCACTCGGCCACCAGCTGTCTTCATCAGGGAAAGGAAAGATTCAATTGAGATGATAAAACTCATCAATAGAAGCTATTTTTTTCTCCCCGTTTTTTCTTTTAAAAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATGTTCCCCAAAGTTCTCCAAAAATGGCTGAGTTAATTCAAATCCCTTGGCTGTGTGGTTTGTCTGCTCCCTGCCTCCCACCCGAGAGCCCCTGTCGTGGGTGGGGGGATCGGGGCTGGTTGGGGGGCGCCGTGGCTGCCCAGGAGGGTCTCTTTTGGCCGAGGGTCTCTGCGGGA... | TTTGCCGCACTCGGCCACCAGCTGTCTTCATCAGGGAAAGGAAAGATTCAATTGAGATGATAAAACTCATCAATAGAAGCTATTTTTTTCTCCCCGTTTTTTCTTTTAAAAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATGTTCCCCAAAGTTCTCCAAAAATGGCTGAGTTAATTCAAATCCCTTGGCTGTGTGGTTTGTCTGCTCCCTGCCTCCCACCCGAGAGCCCCTGTCGTGGGTGGGGGGATCGGGGCTGGTTGGGGGGCGCCGTGGCTGCCCAGGAGGGTCTCTTTTGGCCGAGGGTCTCTGCGGGA... | benign | 299,801 |
Is the genetic change at chromosome 19, position 13208879, within gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTTGCCGCACTCGGCCACCAGCTGTCTTCATCAGGGAAAGGAAAGATTCAATTGAGATGATAAAACTCATCAATAGAAGCTATTTTTTTCTCCCCGTTTTTTCTTTTAAAAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATGTTCCCCAAAGTTCTCCAAAAATGGCTGAGTTAATTCAAATCCCTTGGCTGTGTGGTTTGTCTGCTCCCTGCCTCCCACCCGAGAGCCCCTGTCGTGGGTGGGGGGATCGGGGCTGGTTGGGGGGCGCCGTGGCTGCCCAGGAGGGTCTCTTTTGGCCGAGGGTCTCTGCGGGA... | TTTGCCGCACTCGGCCACCAGCTGTCTTCATCAGGGAAAGGAAAGATTCAATTGAGATGATAAAACTCATCAATAGAAGCTATTTTTTTCTCCCCGTTTTTTCTTTTAAAAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATGTTCCCCAAAGTTCTCCAAAAATGGCTGAGTTAATTCAAATCCCTTGGCTGTGTGGTTTGTCTGCTCCCTGCCTCCCACCCGAGAGCCCCTGTCGTGGGTGGGGGGATCGGGGCTGGTTGGGGGGCGCCGTGGCTGCCCAGGAGGGTCTCTTTTGGCCGAGGGTCTCTGCGGGA... | benign | 299,803 |
The chromosome 19, position 13208937 genetic variant in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GATAAAACTCATCAATAGAAGCTATTTTTTTCTCCCCGTTTTTTCTTTTAAAAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATGTTCCCCAAAGTTCTCCAAAAATGGCTGAGTTAATTCAAATCCCTTGGCTGTGTGGTTTGTCTGCTCCCTGCCTCCCACCCGAGAGCCCCTGTCGTGGGTGGGGGGATCGGGGCTGGTTGGGGGGCGCCGTGGCTGCCCAGGAGGGTCTCTTTTGGCCGAGGGTCTCTGCGGGACACCCTTGTGGCCCAGCCCTGGCCTCTCCAGAGTCTGGGGTCTCCCGGCTGGCCCTCT... | GATAAAACTCATCAATAGAAGCTATTTTTTTCTCCCCGTTTTTTCTTTTAAAAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATGTTCCCCAAAGTTCTCCAAAAATGGCTGAGTTAATTCAAATCCCTTGGCTGTGTGGTTTGTCTGCTCCCTGCCTCCCACCCGAGAGCCCCTGTCGTGGGTGGGGGGATCGGGGCTGGTTGGGGGGCGCCGTGGCTGCCCAGGAGGGTCTCTTTTGGCCGAGGGTCTCTGCGGGACACCCTTGTGGCCCAGCCCTGGCCTCTCCAGAGTCTGGGGTCTCCCGGCTGGCCCTCT... | benign | 299,804 |
The genetic variant at chromosome 19, position 13212008, affecting gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): benign or pathogenic? Disease name(s) if pathogenic? | benign | GGGCTCAGGACCAGGTGCCCGGCATGGCAGCTTTGGGTCCTCCCGGCTAACGGGGCTGTGCTCGCTGCCCCCACAAGTCTGAGTCCTTCTGGTGAGGCCCAAGCTAGGGAGCTCTGGGTGGGGGTGGGGGATACCCAGGCACTGGAGGCTCTGGGGGCCCACTCTTTTCCCTGGTGCTTCATCCCTGGGTCAAGCCCTGACACACAGGTTTCTCTGCAGCAGGCAGAGGAGGGAAGGAGGGAGATGGGGCAGACGCCCGCCTCCCAGGGTCCAGCCCAGCTGAGCGCTGGTGGCCCTGCTCCAGGTAGGAGCTGCAGGAC... | GGGCTCAGGACCAGGTGCCCGGCATGGCAGCTTTGGGTCCTCCCGGCTAACGGGGCTGTGCTCGCTGCCCCCACAAGTCTGAGTCCTTCTGGTGAGGCCCAAGCTAGGGAGCTCTGGGTGGGGGTGGGGGATACCCAGGCACTGGAGGCTCTGGGGGCCCACTCTTTTCCCTGGTGCTTCATCCCTGGGTCAAGCCCTGACACACAGGTTTCTCTGCAGCAGGCAGAGGAGGGAAGGAGGGAGATGGGGCAGACGCCCGCCTCCCAGGGTCCAGCCCAGCTGAGCGCTGGTGGCCCTGCTCCAGGTAGGAGCTGCAGGAC... | benign | 299,830 |
Chromosome 19, position 13212388, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['CACNA1A-related_disorder', 'Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2'] | GGCTCTTGGAGAGCCAGTGTCCTCCGGCGTGGGGGGCCCTGAAGAAAAGGGGGTAGGGGTGAGGATGGGGATGGCCCCGCCCACCAGGGCTTATGGGTGAGGGGCACACACAGGACACCACACACAAGGATTGGGCTCCATGGAGGGGAGAGGGTGCGATTGCCAAAGAAAGGGTGGGGTCCGGGGACGGTGAGAGATGACGGGACTCCCTGGAGGGGGGGTGGGGAGGAAGAGGGGGCCGGAGCCCTGCTGGGCGCTGGGCAGGCGCGGTACATACACTGAGGTTATTCCCACGTGGCCGGCCCCTTCTCCTCTGTCAC... | GGCTCTTGGAGAGCCAGTGTCCTCCGGCGTGGGGGGCCCTGAAGAAAAGGGGGTAGGGGTGAGGATGGGGATGGCCCCGCCCACCAGGGCTTATGGGTGAGGGGCACACACAGGACACCACACACAAGGATTGGGCTCCATGGAGGGGAGAGGGTGCGATTGCCAAAGAAAGGGTGGGGTCCGGGGACGGTGAGAGATGACGGGACTCCCTGGAGGGGGGGTGGGGAGGAAGAGGGGGCCGGAGCCCTGCTGGGCGCTGGGCAGGCGCGGTACATACACTGAGGTTATTCCCACGTGGCCGGCCCCTTCTCCTCTGTCAC... | pathogenic | 299,841 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.