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 |
|---|---|---|---|---|---|
For chromosome 20, position 10413450, gene MKKS (MKKS centrosomal shuttling protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome'] | ACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTA... | ACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTA... | pathogenic | 311,515 |
Evaluate this variant at chromosome 20, position 10640814, gene JAG1 (jagged canonical Notch ligand 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | CCATACGCTTACAATGCTATCAAAAACCTTCAATTCTAAACACATACATATAAATAAAAAGGAATGATGTTTTAAGGCTCTTGATTATTAAGTTAATAAATCAAATATACACAGTGATTAATAAAAAAGAATTATTTACATAACTATACAAAGTTCTACTTTTGACATTTTTTTCTTTAAATTCTTCATTTTACCAGCAACTGCTGACATCAAAGTCTCCCCTCCCCCAACAACAAAAATACAATTAAAAAAAATAAATAATAAAGTCATTTGTGATCGTTGCTGTGGTTCTGAGCTGCAAAGGCACTTTCAAATACAGA... | CCATACGCTTACAATGCTATCAAAAACCTTCAATTCTAAACACATACATATAAATAAAAAGGAATGATGTTTTAAGGCTCTTGATTATTAAGTTAATAAATCAAATATACACAGTGATTAATAAAAAAGAATTATTTACATAACTATACAAAGTTCTACTTTTGACATTTTTTTCTTTAAATTCTTCATTTTACCAGCAACTGCTGACATCAAAGTCTCCCCTCCCCCAACAACAAAAATACAATTAAAAAAAATAAATAATAAAGTCATTTGTGATCGTTGCTGTGGTTCTGAGCTGCAAAGGCACTTTCAAATACAGA... | pathogenic | 311,546 |
Variant in gene JAG1 (jagged canonical Notch ligand 1), located at chromosome 20 position 10640914: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | TCAAATATACACAGTGATTAATAAAAAAGAATTATTTACATAACTATACAAAGTTCTACTTTTGACATTTTTTTCTTTAAATTCTTCATTTTACCAGCAACTGCTGACATCAAAGTCTCCCCTCCCCCAACAACAAAAATACAATTAAAAAAAATAAATAATAAAGTCATTTGTGATCGTTGCTGTGGTTCTGAGCTGCAAAGGCACTTTCAAATACAGAACTACTTGTACGTCATCATAAAACCAATATACAAAAACAACTCAAGAGTCAATAAATATAAATAAAACTATGATCTAAGACTGCATCACCATTAGGACAT... | TCAAATATACACAGTGATTAATAAAAAAGAATTATTTACATAACTATACAAAGTTCTACTTTTGACATTTTTTTCTTTAAATTCTTCATTTTACCAGCAACTGCTGACATCAAAGTCTCCCCTCCCCCAACAACAAAAATACAATTAAAAAAAATAAATAATAAAGTCATTTGTGATCGTTGCTGTGGTTCTGAGCTGCAAAGGCACTTTCAAATACAGAACTACTTGTACGTCATCATAAAACCAATATACAAAAACAACTCAAGAGTCAATAAATATAAATAAAACTATGATCTAAGACTGCATCACCATTAGGACAT... | pathogenic | 311,552 |
Clinically, how would you classify the variant at chromosome 20, position 10641121, gene JAG1 (jagged canonical Notch ligand 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | TTTCAAATACAGAACTACTTGTACGTCATCATAAAACCAATATACAAAAACAACTCAAGAGTCAATAAATATAAATAAAACTATGATCTAAGACTGCATCACCATTAGGACATCTGGCAGAAGTGGGAGCTCAAAGACCAGGGGGCTGGGCAGGCTCCTGGGAGCCTGATCCGAGACCGTGTCGGCTGCAAGGGGACACACAACCAGGGTACTGTTGACTAGCTTTTTGCATAGCTGTGAGATGCGGCACTCGATTTCCCAGCCAACCACAGAAACTACCATTGCCAGTGTAAGCCAGCTTGTCAAAACTTAAATTAACA... | TTTCAAATACAGAACTACTTGTACGTCATCATAAAACCAATATACAAAAACAACTCAAGAGTCAATAAATATAAATAAAACTATGATCTAAGACTGCATCACCATTAGGACATCTGGCAGAAGTGGGAGCTCAAAGACCAGGGGGCTGGGCAGGCTCCTGGGAGCCTGATCCGAGACCGTGTCGGCTGCAAGGGGACACACAACCAGGGTACTGTTGACTAGCTTTTTGCATAGCTGTGAGATGCGGCACTCGATTTCCCAGCCAACCACAGAAACTACCATTGCCAGTGTAAGCCAGCTTGTCAAAACTTAAATTAACA... | pathogenic | 311,553 |
A genetic variant on chromosome 20, position 10641143, affects the gene JAG1 (jagged canonical Notch ligand 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | ACGTCATCATAAAACCAATATACAAAAACAACTCAAGAGTCAATAAATATAAATAAAACTATGATCTAAGACTGCATCACCATTAGGACATCTGGCAGAAGTGGGAGCTCAAAGACCAGGGGGCTGGGCAGGCTCCTGGGAGCCTGATCCGAGACCGTGTCGGCTGCAAGGGGACACACAACCAGGGTACTGTTGACTAGCTTTTTGCATAGCTGTGAGATGCGGCACTCGATTTCCCAGCCAACCACAGAAACTACCATTGCCAGTGTAAGCCAGCTTGTCAAAACTTAAATTAACACAGGGATTCTAAGTCAGCAACG... | ACGTCATCATAAAACCAATATACAAAAACAACTCAAGAGTCAATAAATATAAATAAAACTATGATCTAAGACTGCATCACCATTAGGACATCTGGCAGAAGTGGGAGCTCAAAGACCAGGGGGCTGGGCAGGCTCCTGGGAGCCTGATCCGAGACCGTGTCGGCTGCAAGGGGACACACAACCAGGGTACTGTTGACTAGCTTTTTGCATAGCTGTGAGATGCGGCACTCGATTTCCCAGCCAACCACAGAAACTACCATTGCCAGTGTAAGCCAGCTTGTCAAAACTTAAATTAACACAGGGATTCTAAGTCAGCAACG... | pathogenic | 311,555 |
Gene JAG1 (jagged canonical Notch ligand 1) variant at chromosome position 10641154 on chromosome 20: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | AAACCAATATACAAAAACAACTCAAGAGTCAATAAATATAAATAAAACTATGATCTAAGACTGCATCACCATTAGGACATCTGGCAGAAGTGGGAGCTCAAAGACCAGGGGGCTGGGCAGGCTCCTGGGAGCCTGATCCGAGACCGTGTCGGCTGCAAGGGGACACACAACCAGGGTACTGTTGACTAGCTTTTTGCATAGCTGTGAGATGCGGCACTCGATTTCCCAGCCAACCACAGAAACTACCATTGCCAGTGTAAGCCAGCTTGTCAAAACTTAAATTAACACAGGGATTCTAAGTCAGCAACGGCCTCAGACTC... | AAACCAATATACAAAAACAACTCAAGAGTCAATAAATATAAATAAAACTATGATCTAAGACTGCATCACCATTAGGACATCTGGCAGAAGTGGGAGCTCAAAGACCAGGGGGCTGGGCAGGCTCCTGGGAGCCTGATCCGAGACCGTGTCGGCTGCAAGGGGACACACAACCAGGGTACTGTTGACTAGCTTTTTGCATAGCTGTGAGATGCGGCACTCGATTTCCCAGCCAACCACAGAAACTACCATTGCCAGTGTAAGCCAGCTTGTCAAAACTTAAATTAACACAGGGATTCTAAGTCAGCAACGGCCTCAGACTC... | pathogenic | 311,556 |
The chromosome 20, position 10641158 genetic variant in gene JAG1 (jagged canonical Notch ligand 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation', 'Tetralogy_of_Fallot'] | CAATATACAAAAACAACTCAAGAGTCAATAAATATAAATAAAACTATGATCTAAGACTGCATCACCATTAGGACATCTGGCAGAAGTGGGAGCTCAAAGACCAGGGGGCTGGGCAGGCTCCTGGGAGCCTGATCCGAGACCGTGTCGGCTGCAAGGGGACACACAACCAGGGTACTGTTGACTAGCTTTTTGCATAGCTGTGAGATGCGGCACTCGATTTCCCAGCCAACCACAGAAACTACCATTGCCAGTGTAAGCCAGCTTGTCAAAACTTAAATTAACACAGGGATTCTAAGTCAGCAACGGCCTCAGACTCGAGT... | CAATATACAAAAACAACTCAAGAGTCAATAAATATAAATAAAACTATGATCTAAGACTGCATCACCATTAGGACATCTGGCAGAAGTGGGAGCTCAAAGACCAGGGGGCTGGGCAGGCTCCTGGGAGCCTGATCCGAGACCGTGTCGGCTGCAAGGGGACACACAACCAGGGTACTGTTGACTAGCTTTTTGCATAGCTGTGAGATGCGGCACTCGATTTCCCAGCCAACCACAGAAACTACCATTGCCAGTGTAAGCCAGCTTGTCAAAACTTAAATTAACACAGGGATTCTAAGTCAGCAACGGCCTCAGACTCGAGT... | pathogenic | 311,558 |
Classify the chromosome 20 variant at position 10641161 affecting gene JAG1 (jagged canonical Notch ligand 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation', 'Charcot-Marie-Tooth_disease,_axonal,_Type_2HH', 'Deafness,_congenital_heart_defects,_and_posterior_embryotoxon', 'JAG1-related_disorder', 'Tetralogy_of_Fallot'] | TATACAAAAACAACTCAAGAGTCAATAAATATAAATAAAACTATGATCTAAGACTGCATCACCATTAGGACATCTGGCAGAAGTGGGAGCTCAAAGACCAGGGGGCTGGGCAGGCTCCTGGGAGCCTGATCCGAGACCGTGTCGGCTGCAAGGGGACACACAACCAGGGTACTGTTGACTAGCTTTTTGCATAGCTGTGAGATGCGGCACTCGATTTCCCAGCCAACCACAGAAACTACCATTGCCAGTGTAAGCCAGCTTGTCAAAACTTAAATTAACACAGGGATTCTAAGTCAGCAACGGCCTCAGACTCGAGTATG... | TATACAAAAACAACTCAAGAGTCAATAAATATAAATAAAACTATGATCTAAGACTGCATCACCATTAGGACATCTGGCAGAAGTGGGAGCTCAAAGACCAGGGGGCTGGGCAGGCTCCTGGGAGCCTGATCCGAGACCGTGTCGGCTGCAAGGGGACACACAACCAGGGTACTGTTGACTAGCTTTTTGCATAGCTGTGAGATGCGGCACTCGATTTCCCAGCCAACCACAGAAACTACCATTGCCAGTGTAAGCCAGCTTGTCAAAACTTAAATTAACACAGGGATTCTAAGTCAGCAACGGCCTCAGACTCGAGTATG... | pathogenic | 311,560 |
A genetic variant on chromosome 20, position 10641194, affects the gene JAG1 (jagged canonical Notch ligand 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | AATAAAACTATGATCTAAGACTGCATCACCATTAGGACATCTGGCAGAAGTGGGAGCTCAAAGACCAGGGGGCTGGGCAGGCTCCTGGGAGCCTGATCCGAGACCGTGTCGGCTGCAAGGGGACACACAACCAGGGTACTGTTGACTAGCTTTTTGCATAGCTGTGAGATGCGGCACTCGATTTCCCAGCCAACCACAGAAACTACCATTGCCAGTGTAAGCCAGCTTGTCAAAACTTAAATTAACACAGGGATTCTAAGTCAGCAACGGCCTCAGACTCGAGTATGACACGACAGTTTAAAGAACTACAAGCCCTCAGA... | AATAAAACTATGATCTAAGACTGCATCACCATTAGGACATCTGGCAGAAGTGGGAGCTCAAAGACCAGGGGGCTGGGCAGGCTCCTGGGAGCCTGATCCGAGACCGTGTCGGCTGCAAGGGGACACACAACCAGGGTACTGTTGACTAGCTTTTTGCATAGCTGTGAGATGCGGCACTCGATTTCCCAGCCAACCACAGAAACTACCATTGCCAGTGTAAGCCAGCTTGTCAAAACTTAAATTAACACAGGGATTCTAAGTCAGCAACGGCCTCAGACTCGAGTATGACACGACAGTTTAAAGAACTACAAGCCCTCAGA... | pathogenic | 311,561 |
Is the chromosome 20, position 10641432 variant in JAG1 (jagged canonical Notch ligand 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AAATTAACACAGGGATTCTAAGTCAGCAACGGCCTCAGACTCGAGTATGACACGACAGTTTAAAGAACTACAAGCCCTCAGACTCTACCTAGCGGCGGCAGTGCCCGCGGTCTGCTATACGATGTACTCCATTCGGTTTAAGCTCTGGGCACTTTCCAAGTCTCTGTTGTCCTGTTTGTTTGTCCAGTTTGGGTGTTTTGTCGGCGTGCCGTTGGGGGGCTTCTCTTCTCTGTCTACCAGCGTGTACGCCGGCTGCTTGGCAAACCGGGCTTTCTGCTGGTGTTTGTCCATGTCGTCCTCTTCTACTTCAGAATTGTGTG... | AAATTAACACAGGGATTCTAAGTCAGCAACGGCCTCAGACTCGAGTATGACACGACAGTTTAAAGAACTACAAGCCCTCAGACTCTACCTAGCGGCGGCAGTGCCCGCGGTCTGCTATACGATGTACTCCATTCGGTTTAAGCTCTGGGCACTTTCCAAGTCTCTGTTGTCCTGTTTGTTTGTCCAGTTTGGGTGTTTTGTCGGCGTGCCGTTGGGGGGCTTCTCTTCTCTGTCTACCAGCGTGTACGCCGGCTGCTTGGCAAACCGGGCTTTCTGCTGGTGTTTGTCCATGTCGTCCTCTTCTACTTCAGAATTGTGTG... | benign | 311,563 |
Does the variant on chromosome 20 at location 10643772 affecting gene JAG1 (jagged canonical Notch ligand 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic | AGGCATGCTCATCCCTGATTCCAGAACACAGGTGAACTGCGGCAGCCATCATGTCCTACCTTTGAGCAGGCGATCCGTCCATTCAGGCACTGGCAGGTATTACAGTCATCATCCCATTTGGCCCCATCTGGTATCACACTCCCCATGGTGATGCAAGGTCTCCCTGAAACTGACAGGTGGAGACGGGTGAGCAGTTTATTTTTCTGTGAACCGGATCGGGGTTCAATTCTTTGGTCCCTGTTATGAAATGGTTATGCCTGTGCCCTTTGCCATGTTAAGATCATTCTTCCCACAGTAACAGCATGTGTACTTCCTGCCTT... | AGGCATGCTCATCCCTGATTCCAGAACACAGGTGAACTGCGGCAGCCATCATGTCCTACCTTTGAGCAGGCGATCCGTCCATTCAGGCACTGGCAGGTATTACAGTCATCATCCCATTTGGCCCCATCTGGTATCACACTCCCCATGGTGATGCAAGGTCTCCCTGAAACTGACAGGTGGAGACGGGTGAGCAGTTTATTTTTCTGTGAACCGGATCGGGGTTCAATTCTTTGGTCCCTGTTATGAAATGGTTATGCCTGTGCCCTTTGCCATGTTAAGATCATTCTTCCCACAGTAACAGCATGTGTACTTCCTGCCTT... | pathogenic | 311,593 |
Variant chromosome 20, position 10644845, gene JAG1 (jagged canonical Notch ligand 1): benign or pathogenic? Disease(s)? | benign | TCCTGAGTTCTAACAGTGGAGAACCATTTTGGGAGGCAGCAATTTTTAATTTGATTCCTTTGACAGTGCAATTTACAGCAAGCCTGGCAAAGTTTCCTGGAAGGGGTCAGACAGTAAACATCTTAGGCTTTGTGGGGTATATAGTCTCTGTCACAACTATCCAACTCTTGTGGTATCATGAAAGTAGCCATAGACAATACATAAATGAATGTGTGGCTGTGTGCCAAGAAAACTGTATTTATAAAAACAGACAGTGGGCTGGATACGGCCCCTGGGCCACAGTTTGCCAACTGTTTATTTAGAAACATGAAACAGATACA... | TCCTGAGTTCTAACAGTGGAGAACCATTTTGGGAGGCAGCAATTTTTAATTTGATTCCTTTGACAGTGCAATTTACAGCAAGCCTGGCAAAGTTTCCTGGAAGGGGTCAGACAGTAAACATCTTAGGCTTTGTGGGGTATATAGTCTCTGTCACAACTATCCAACTCTTGTGGTATCATGAAAGTAGCCATAGACAATACATAAATGAATGTGTGGCTGTGTGCCAAGAAAACTGTATTTATAAAAACAGACAGTGGGCTGGATACGGCCCCTGGGCCACAGTTTGCCAACTGTTTATTTAGAAACATGAAACAGATACA... | benign | 311,603 |
Is the genetic change at chromosome 20, position 10644931, within gene JAG1 (jagged canonical Notch ligand 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | GCAAAGTTTCCTGGAAGGGGTCAGACAGTAAACATCTTAGGCTTTGTGGGGTATATAGTCTCTGTCACAACTATCCAACTCTTGTGGTATCATGAAAGTAGCCATAGACAATACATAAATGAATGTGTGGCTGTGTGCCAAGAAAACTGTATTTATAAAAACAGACAGTGGGCTGGATACGGCCCCTGGGCCACAGTTTGCCAACTGTTTATTTAGAAACATGAAACAGATACAACCTGCCCCCATCTAGTGCTGAAGACTAGTTAATCCCAGACTTGGATTTCAAGCACCAGTAAAATTTCAGACAATTTGGGTACAAG... | GCAAAGTTTCCTGGAAGGGGTCAGACAGTAAACATCTTAGGCTTTGTGGGGTATATAGTCTCTGTCACAACTATCCAACTCTTGTGGTATCATGAAAGTAGCCATAGACAATACATAAATGAATGTGTGGCTGTGTGCCAAGAAAACTGTATTTATAAAAACAGACAGTGGGCTGGATACGGCCCCTGGGCCACAGTTTGCCAACTGTTTATTTAGAAACATGAAACAGATACAACCTGCCCCCATCTAGTGCTGAAGACTAGTTAATCCCAGACTTGGATTTCAAGCACCAGTAAAATTTCAGACAATTTGGGTACAAG... | pathogenic | 311,609 |
The chromosome 20, position 10645143 genetic variant in gene JAG1 (jagged canonical Notch ligand 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | TTAGAAACATGAAACAGATACAACCTGCCCCCATCTAGTGCTGAAGACTAGTTAATCCCAGACTTGGATTTCAAGCACCAGTAAAATTTCAGACAATTTGGGTACAAGAATCAAACCATAACTACTCTAGCACCTTTTTTGTTCTGTAAGAGAAAGGGCTTGTAAAAAAGTAGAGAAAAGGCTCAAAATAATATGCTTTAAGCCTCTTGAAAAACTGCGTTGCCTGCCCCTATTTTCCTGTTTTAGTCATTTCTCCAGGGCCTGATCAGACCCAGCACAGACAAGCCTCTGGAAGCCACAGTCGTCCTCCCTTCCGTTTG... | TTAGAAACATGAAACAGATACAACCTGCCCCCATCTAGTGCTGAAGACTAGTTAATCCCAGACTTGGATTTCAAGCACCAGTAAAATTTCAGACAATTTGGGTACAAGAATCAAACCATAACTACTCTAGCACCTTTTTTGTTCTGTAAGAGAAAGGGCTTGTAAAAAAGTAGAGAAAAGGCTCAAAATAATATGCTTTAAGCCTCTTGAAAAACTGCGTTGCCTGCCCCTATTTTCCTGTTTTAGTCATTTCTCCAGGGCCTGATCAGACCCAGCACAGACAAGCCTCTGGAAGCCACAGTCGTCCTCCCTTCCGTTTG... | pathogenic | 311,618 |
Mutation at chromosome 20, position 10645196, within JAG1 (jagged canonical Notch ligand 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | AATCCCAGACTTGGATTTCAAGCACCAGTAAAATTTCAGACAATTTGGGTACAAGAATCAAACCATAACTACTCTAGCACCTTTTTTGTTCTGTAAGAGAAAGGGCTTGTAAAAAAGTAGAGAAAAGGCTCAAAATAATATGCTTTAAGCCTCTTGAAAAACTGCGTTGCCTGCCCCTATTTTCCTGTTTTAGTCATTTCTCCAGGGCCTGATCAGACCCAGCACAGACAAGCCTCTGGAAGCCACAGTCGTCCTCCCTTCCGTTTGTATTAGCTTTATCCTATACCAGTGTAGCTGTGGTTAACATCTGCTTGCCCATA... | AATCCCAGACTTGGATTTCAAGCACCAGTAAAATTTCAGACAATTTGGGTACAAGAATCAAACCATAACTACTCTAGCACCTTTTTTGTTCTGTAAGAGAAAGGGCTTGTAAAAAAGTAGAGAAAAGGCTCAAAATAATATGCTTTAAGCCTCTTGAAAAACTGCGTTGCCTGCCCCTATTTTCCTGTTTTAGTCATTTCTCCAGGGCCTGATCAGACCCAGCACAGACAAGCCTCTGGAAGCCACAGTCGTCCTCCCTTCCGTTTGTATTAGCTTTATCCTATACCAGTGTAGCTGTGGTTAACATCTGCTTGCCCATA... | pathogenic | 311,620 |
Clinical impact (benign or pathogenic) of the variant at chromosome 20, location 10645196, gene JAG1 (jagged canonical Notch ligand 1): what disease(s) if pathogenic? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation', 'Charcot-Marie-Tooth_disease,_axonal,_Type_2HH', 'Deafness,_congenital_heart_defects,_and_posterior_embryotoxon', 'Tetralogy_of_Fallot'] | AATCCCAGACTTGGATTTCAAGCACCAGTAAAATTTCAGACAATTTGGGTACAAGAATCAAACCATAACTACTCTAGCACCTTTTTTGTTCTGTAAGAGAAAGGGCTTGTAAAAAAGTAGAGAAAAGGCTCAAAATAATATGCTTTAAGCCTCTTGAAAAACTGCGTTGCCTGCCCCTATTTTCCTGTTTTAGTCATTTCTCCAGGGCCTGATCAGACCCAGCACAGACAAGCCTCTGGAAGCCACAGTCGTCCTCCCTTCCGTTTGTATTAGCTTTATCCTATACCAGTGTAGCTGTGGTTAACATCTGCTTGCCCATA... | AATCCCAGACTTGGATTTCAAGCACCAGTAAAATTTCAGACAATTTGGGTACAAGAATCAAACCATAACTACTCTAGCACCTTTTTTGTTCTGTAAGAGAAAGGGCTTGTAAAAAAGTAGAGAAAAGGCTCAAAATAATATGCTTTAAGCCTCTTGAAAAACTGCGTTGCCTGCCCCTATTTTCCTGTTTTAGTCATTTCTCCAGGGCCTGATCAGACCCAGCACAGACAAGCCTCTGGAAGCCACAGTCGTCCTCCCTTCCGTTTGTATTAGCTTTATCCTATACCAGTGTAGCTGTGGTTAACATCTGCTTGCCCATA... | pathogenic | 311,621 |
Gene JAG1 (jagged canonical Notch ligand 1) variant at chromosome 20, position 10645244—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation', 'Arteriohepatic_dysplasia', 'Heart,_malformation_of', 'JAG1-related_disorder', 'Tetralogy_of_Fallot'] | GTACAAGAATCAAACCATAACTACTCTAGCACCTTTTTTGTTCTGTAAGAGAAAGGGCTTGTAAAAAAGTAGAGAAAAGGCTCAAAATAATATGCTTTAAGCCTCTTGAAAAACTGCGTTGCCTGCCCCTATTTTCCTGTTTTAGTCATTTCTCCAGGGCCTGATCAGACCCAGCACAGACAAGCCTCTGGAAGCCACAGTCGTCCTCCCTTCCGTTTGTATTAGCTTTATCCTATACCAGTGTAGCTGTGGTTAACATCTGCTTGCCCATAATTTCATGTTAGTCATGGGGAAATGCACATACTTTCTTCAGGACCCCA... | GTACAAGAATCAAACCATAACTACTCTAGCACCTTTTTTGTTCTGTAAGAGAAAGGGCTTGTAAAAAAGTAGAGAAAAGGCTCAAAATAATATGCTTTAAGCCTCTTGAAAAACTGCGTTGCCTGCCCCTATTTTCCTGTTTTAGTCATTTCTCCAGGGCCTGATCAGACCCAGCACAGACAAGCCTCTGGAAGCCACAGTCGTCCTCCCTTCCGTTTGTATTAGCTTTATCCTATACCAGTGTAGCTGTGGTTAACATCTGCTTGCCCATAATTTCATGTTAGTCATGGGGAAATGCACATACTTTCTTCAGGACCCCA... | pathogenic | 311,625 |
Gene JAG1 (jagged canonical Notch ligand 1) variant at chromosome 20, position 10645368—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation', 'Charcot-Marie-Tooth_disease,_axonal,_Type_2HH', 'Deafness,_congenital_heart_defects,_and_posterior_embryotoxon', 'Tetralogy_of_Fallot'] | GCCCCTATTTTCCTGTTTTAGTCATTTCTCCAGGGCCTGATCAGACCCAGCACAGACAAGCCTCTGGAAGCCACAGTCGTCCTCCCTTCCGTTTGTATTAGCTTTATCCTATACCAGTGTAGCTGTGGTTAACATCTGCTTGCCCATAATTTCATGTTAGTCATGGGGAAATGCACATACTTTCTTCAGGACCCCACTGTAGATTAATCATCAGATTCTGTGACTGGCACTCTCTCCCCAAGAACAAGGAGGGCTACACCACCCAGGGAACTACCAGCAGGTACCTGGGAGGATCCAGCCTGGCATATCTTAATCCCAGC... | GCCCCTATTTTCCTGTTTTAGTCATTTCTCCAGGGCCTGATCAGACCCAGCACAGACAAGCCTCTGGAAGCCACAGTCGTCCTCCCTTCCGTTTGTATTAGCTTTATCCTATACCAGTGTAGCTGTGGTTAACATCTGCTTGCCCATAATTTCATGTTAGTCATGGGGAAATGCACATACTTTCTTCAGGACCCCACTGTAGATTAATCATCAGATTCTGTGACTGGCACTCTCTCCCCAAGAACAAGGAGGGCTACACCACCCAGGGAACTACCAGCAGGTACCTGGGAGGATCCAGCCTGGCATATCTTAATCCCAGC... | pathogenic | 311,629 |
A genetic variant at chromosome 20, position 10645389, affecting gene JAG1 (jagged canonical Notch ligand 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | TCATTTCTCCAGGGCCTGATCAGACCCAGCACAGACAAGCCTCTGGAAGCCACAGTCGTCCTCCCTTCCGTTTGTATTAGCTTTATCCTATACCAGTGTAGCTGTGGTTAACATCTGCTTGCCCATAATTTCATGTTAGTCATGGGGAAATGCACATACTTTCTTCAGGACCCCACTGTAGATTAATCATCAGATTCTGTGACTGGCACTCTCTCCCCAAGAACAAGGAGGGCTACACCACCCAGGGAACTACCAGCAGGTACCTGGGAGGATCCAGCCTGGCATATCTTAATCCCAGCTGGAGGAGAGAGATCCTTTGC... | TCATTTCTCCAGGGCCTGATCAGACCCAGCACAGACAAGCCTCTGGAAGCCACAGTCGTCCTCCCTTCCGTTTGTATTAGCTTTATCCTATACCAGTGTAGCTGTGGTTAACATCTGCTTGCCCATAATTTCATGTTAGTCATGGGGAAATGCACATACTTTCTTCAGGACCCCACTGTAGATTAATCATCAGATTCTGTGACTGGCACTCTCTCCCCAAGAACAAGGAGGGCTACACCACCCAGGGAACTACCAGCAGGTACCTGGGAGGATCCAGCCTGGCATATCTTAATCCCAGCTGGAGGAGAGAGATCCTTTGC... | pathogenic | 311,630 |
Is chromosome 20, position 10645985, gene JAG1 (jagged canonical Notch ligand 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation', 'Cardiovascular_phenotype'] | CCACACCAGTTACAGTCAGTGGCTCTCACCCCATGGCCGTTGCCTGGGGAATTTTAAAAGAATACTGATGCCTGGGTCCCACCCCCAGAAAGTCTAATTTCACAGGTCTTGGTTGCAGCCCAGGCAGCGGGATTTTTAAAAGCTCCCAGGTGATTCTGGTGTGCAGCCAAGGTTGAAAAATCACTGCTCTAAATGAGGACACAACCTGGCTAATTAAAGTGTGGTCCATGGGGCAGCAGGATCGCTTCACCTGGGAGCTTGTTAGAAAAGCAGTCTGAGGCCCCACCCCAGACCTCCTGACTCAGAACTTGCATTTTAAA... | CCACACCAGTTACAGTCAGTGGCTCTCACCCCATGGCCGTTGCCTGGGGAATTTTAAAAGAATACTGATGCCTGGGTCCCACCCCCAGAAAGTCTAATTTCACAGGTCTTGGTTGCAGCCCAGGCAGCGGGATTTTTAAAAGCTCCCAGGTGATTCTGGTGTGCAGCCAAGGTTGAAAAATCACTGCTCTAAATGAGGACACAACCTGGCTAATTAAAGTGTGGTCCATGGGGCAGCAGGATCGCTTCACCTGGGAGCTTGTTAGAAAAGCAGTCTGAGGCCCCACCCCAGACCTCCTGACTCAGAACTTGCATTTTAAA... | pathogenic | 311,635 |
Clinical impact (benign or pathogenic) of the variant at chromosome 20, location 10646069, gene JAG1 (jagged canonical Notch ligand 1): what disease(s) if pathogenic? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | CCAGAAAGTCTAATTTCACAGGTCTTGGTTGCAGCCCAGGCAGCGGGATTTTTAAAAGCTCCCAGGTGATTCTGGTGTGCAGCCAAGGTTGAAAAATCACTGCTCTAAATGAGGACACAACCTGGCTAATTAAAGTGTGGTCCATGGGGCAGCAGGATCGCTTCACCTGGGAGCTTGTTAGAAAAGCAGTCTGAGGCCCCACCCCAGACCTCCTGACTCAGAACTTGCATTTTAAACACAATCCCTGGGTGATTCTCACACACACACACACACACACACACACACACACACACACGATAGTGGATGAGTGCTGGCTTAAA... | CCAGAAAGTCTAATTTCACAGGTCTTGGTTGCAGCCCAGGCAGCGGGATTTTTAAAAGCTCCCAGGTGATTCTGGTGTGCAGCCAAGGTTGAAAAATCACTGCTCTAAATGAGGACACAACCTGGCTAATTAAAGTGTGGTCCATGGGGCAGCAGGATCGCTTCACCTGGGAGCTTGTTAGAAAAGCAGTCTGAGGCCCCACCCCAGACCTCCTGACTCAGAACTTGCATTTTAAACACAATCCCTGGGTGATTCTCACACACACACACACACACACACACACACACACACACACGATAGTGGATGAGTGCTGGCTTAAA... | pathogenic | 311,638 |
Is the chromosome 20, position 10647943 variant in JAG1 (jagged canonical Notch ligand 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GTTTTCCCACGTTGAAGTGGGATCCCTCCAACATGACCCATACATCCCAGAGCTCCCCAAAGAGTGGCAGACTCACTGGTTTCACAGTAGGCCCCCTCCCAGCCGTCACTACAGATGCACTTGTAGGAGTTGACACCATCGATGCAAGTGCCACCGTTTCTACAAGGGTTGCTCTCACAGTCATTAATATCTATGAAACAAAGTAAAGCAAAAAAAGAACTGAAGGACTTGTGAAGCCATAGACAAGCACTGTTCAGCAGTTTTCATGGCTCCCTCCTGACACAATGCACCTGGCACCTCCACCTGCTACCCTCCATCAG... | GTTTTCCCACGTTGAAGTGGGATCCCTCCAACATGACCCATACATCCCAGAGCTCCCCAAAGAGTGGCAGACTCACTGGTTTCACAGTAGGCCCCCTCCCAGCCGTCACTACAGATGCACTTGTAGGAGTTGACACCATCGATGCAAGTGCCACCGTTTCTACAAGGGTTGCTCTCACAGTCATTAATATCTATGAAACAAAGTAAAGCAAAAAAAGAACTGAAGGACTTGTGAAGCCATAGACAAGCACTGTTCAGCAGTTTTCATGGCTCCCTCCTGACACAATGCACCTGGCACCTCCACCTGCTACCCTCCATCAG... | benign | 311,648 |
Chromosome 20, position 10648022, gene JAG1 (jagged canonical Notch ligand 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | TTTCACAGTAGGCCCCCTCCCAGCCGTCACTACAGATGCACTTGTAGGAGTTGACACCATCGATGCAAGTGCCACCGTTTCTACAAGGGTTGCTCTCACAGTCATTAATATCTATGAAACAAAGTAAAGCAAAAAAAGAACTGAAGGACTTGTGAAGCCATAGACAAGCACTGTTCAGCAGTTTTCATGGCTCCCTCCTGACACAATGCACCTGGCACCTCCACCTGCTACCCTCCATCAGGGCTGTTTCTCAAATTAGACAGGCGGCTTATCAAGCAGAAGCTTCCAGAGAGTGCCTTACCCACTTAATGCCCTCACAT... | TTTCACAGTAGGCCCCCTCCCAGCCGTCACTACAGATGCACTTGTAGGAGTTGACACCATCGATGCAAGTGCCACCGTTTCTACAAGGGTTGCTCTCACAGTCATTAATATCTATGAAACAAAGTAAAGCAAAAAAAGAACTGAAGGACTTGTGAAGCCATAGACAAGCACTGTTCAGCAGTTTTCATGGCTCCCTCCTGACACAATGCACCTGGCACCTCCACCTGCTACCCTCCATCAGGGCTGTTTCTCAAATTAGACAGGCGGCTTATCAAGCAGAAGCTTCCAGAGAGTGCCTTACCCACTTAATGCCCTCACAT... | pathogenic | 311,654 |
A genetic variant on chromosome 20, position 10648052, affects the gene JAG1 (jagged canonical Notch ligand 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation', 'JAG1-related_disorder'] | TACAGATGCACTTGTAGGAGTTGACACCATCGATGCAAGTGCCACCGTTTCTACAAGGGTTGCTCTCACAGTCATTAATATCTATGAAACAAAGTAAAGCAAAAAAAGAACTGAAGGACTTGTGAAGCCATAGACAAGCACTGTTCAGCAGTTTTCATGGCTCCCTCCTGACACAATGCACCTGGCACCTCCACCTGCTACCCTCCATCAGGGCTGTTTCTCAAATTAGACAGGCGGCTTATCAAGCAGAAGCTTCCAGAGAGTGCCTTACCCACTTAATGCCCTCACATGGGCATTTAGTCACCGGTACTAGGTGAAAG... | TACAGATGCACTTGTAGGAGTTGACACCATCGATGCAAGTGCCACCGTTTCTACAAGGGTTGCTCTCACAGTCATTAATATCTATGAAACAAAGTAAAGCAAAAAAAGAACTGAAGGACTTGTGAAGCCATAGACAAGCACTGTTCAGCAGTTTTCATGGCTCCCTCCTGACACAATGCACCTGGCACCTCCACCTGCTACCCTCCATCAGGGCTGTTTCTCAAATTAGACAGGCGGCTTATCAAGCAGAAGCTTCCAGAGAGTGCCTTACCCACTTAATGCCCTCACATGGGCATTTAGTCACCGGTACTAGGTGAAAG... | pathogenic | 311,656 |
Determine if the mutation at chromosome 20, position 10648553 in gene JAG1 (jagged canonical Notch ligand 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation', 'Cardiovascular_phenotype'] | AAAACAATTTCAACACTGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGTTGGGGGTCGGGGGGTGGATCATCTGAGGCTGGGAGTTCGAGACCAGCCTGACCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGGCGTGGTGCGCATGCCTGTAATCCCAGCTACTCAGGAAGGCTGAGGCAGGCAGGAGAATCGCTTGAACCTGGGAGGCCGAGGTTGTGGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGCAACAACAGCGAAATTCGGTCT... | AAAACAATTTCAACACTGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGTTGGGGGTCGGGGGGTGGATCATCTGAGGCTGGGAGTTCGAGACCAGCCTGACCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGGCGTGGTGCGCATGCCTGTAATCCCAGCTACTCAGGAAGGCTGAGGCAGGCAGGAGAATCGCTTGAACCTGGGAGGCCGAGGTTGTGGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGCAACAACAGCGAAATTCGGTCT... | pathogenic | 311,665 |
The chromosome 20, position 10648631 genetic variant in gene JAG1 (jagged canonical Notch ligand 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation', 'Tetralogy_of_Fallot'] | GGGGTGGATCATCTGAGGCTGGGAGTTCGAGACCAGCCTGACCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGGCGTGGTGCGCATGCCTGTAATCCCAGCTACTCAGGAAGGCTGAGGCAGGCAGGAGAATCGCTTGAACCTGGGAGGCCGAGGTTGTGGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGCAACAACAGCGAAATTCGGTCTCAAAAAAAAAAAAAAAACTTTCAACACCAATGATCCCAGGGTGGGCCAGGGGCAGAGGCAGGGGCAGGGGCAGGCTGG... | GGGGTGGATCATCTGAGGCTGGGAGTTCGAGACCAGCCTGACCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGGCGTGGTGCGCATGCCTGTAATCCCAGCTACTCAGGAAGGCTGAGGCAGGCAGGAGAATCGCTTGAACCTGGGAGGCCGAGGTTGTGGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGCAACAACAGCGAAATTCGGTCTCAAAAAAAAAAAAAAAACTTTCAACACCAATGATCCCAGGGTGGGCCAGGGGCAGAGGCAGGGGCAGGGGCAGGCTGG... | pathogenic | 311,668 |
Benign or pathogenic: chromosome 20, position 10648664, gene JAG1 (jagged canonical Notch ligand 1) variant? Disease(s) if pathogenic? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation', 'Charcot-Marie-Tooth_disease,_axonal,_Type_2HH', 'Deafness,_congenital_heart_defects,_and_posterior_embryotoxon', 'Tetralogy_of_Fallot'] | CAGCCTGACCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGGCGTGGTGCGCATGCCTGTAATCCCAGCTACTCAGGAAGGCTGAGGCAGGCAGGAGAATCGCTTGAACCTGGGAGGCCGAGGTTGTGGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGCAACAACAGCGAAATTCGGTCTCAAAAAAAAAAAAAAAACTTTCAACACCAATGATCCCAGGGTGGGCCAGGGGCAGAGGCAGGGGCAGGGGCAGGCTGGGGAGCACTGGTCCATTCCCGGATGAGGGAGTCT... | CAGCCTGACCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGGCGTGGTGCGCATGCCTGTAATCCCAGCTACTCAGGAAGGCTGAGGCAGGCAGGAGAATCGCTTGAACCTGGGAGGCCGAGGTTGTGGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGCAACAACAGCGAAATTCGGTCTCAAAAAAAAAAAAAAAACTTTCAACACCAATGATCCCAGGGTGGGCCAGGGGCAGAGGCAGGGGCAGGGGCAGGCTGGGGAGCACTGGTCCATTCCCGGATGAGGGAGTCT... | pathogenic | 311,669 |
Benign or pathogenic: chromosome 20, position 10648739, gene JAG1 (jagged canonical Notch ligand 1) variant? Disease(s) if pathogenic? | benign | ATGCCTGTAATCCCAGCTACTCAGGAAGGCTGAGGCAGGCAGGAGAATCGCTTGAACCTGGGAGGCCGAGGTTGTGGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGCAACAACAGCGAAATTCGGTCTCAAAAAAAAAAAAAAAACTTTCAACACCAATGATCCCAGGGTGGGCCAGGGGCAGAGGCAGGGGCAGGGGCAGGCTGGGGAGCACTGGTCCATTCCCGGATGAGGGAGTCTTACTTTCATGGCAGTATGTTCCCGTGAAGCCTTTGTTACAGTCACAGGTGAATTTGCCTCCCGACTGACTCTTGC... | ATGCCTGTAATCCCAGCTACTCAGGAAGGCTGAGGCAGGCAGGAGAATCGCTTGAACCTGGGAGGCCGAGGTTGTGGTGAGCCGAGATCGTGCCACTGCACTCTAGCCTGGGCAACAACAGCGAAATTCGGTCTCAAAAAAAAAAAAAAAACTTTCAACACCAATGATCCCAGGGTGGGCCAGGGGCAGAGGCAGGGGCAGGGGCAGGCTGGGGAGCACTGGTCCATTCCCGGATGAGGGAGTCTTACTTTCATGGCAGTATGTTCCCGTGAAGCCTTTGTTACAGTCACAGGTGAATTTGCCTCCCGACTGACTCTTGC... | benign | 311,672 |
Evaluate if the mutation on chromosome 20 at position 10649123 in JAG1 (jagged canonical Notch ligand 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | AGCCATGGCCACTGTGCAGCTGTCAATCACTAGAAGATAGGCTTGGGATCAGATCACAGCCATGCACCCACAGATGCGGCATTCCTAAGCCAAGGGCCTGGGCCAAGCCCACTTTCCTGGAGACAGGGACCCTCTGGCTAATGAGACACACCCCAGGGAAGCCAAGATACTGGCAACGTGCCACATCACATTATGACAGGCAAAGTTGAGACTCCAGGCAAAGAGTTTTAAAGCATTTTCTCCCTCCACACAACCAGGAAAACCCACATGCTTGTGGATCCCCTTCATCCTACCTTTGACATCTACCCAATTTGGTAAAC... | AGCCATGGCCACTGTGCAGCTGTCAATCACTAGAAGATAGGCTTGGGATCAGATCACAGCCATGCACCCACAGATGCGGCATTCCTAAGCCAAGGGCCTGGGCCAAGCCCACTTTCCTGGAGACAGGGACCCTCTGGCTAATGAGACACACCCCAGGGAAGCCAAGATACTGGCAACGTGCCACATCACATTATGACAGGCAAAGTTGAGACTCCAGGCAAAGAGTTTTAAAGCATTTTCTCCCTCCACACAACCAGGAAAACCCACATGCTTGTGGATCCCCTTCATCCTACCTTTGACATCTACCCAATTTGGTAAAC... | benign | 311,680 |
Considering the genetic mutation at chromosome 20, position 10650275, impacting JAG1 (jagged canonical Notch ligand 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | GAGACACCCTGTAAGATACATCTCTATGCTGTAGGGACTGCCAATGTCCAGTATTTGAAACAACGGGGCAGAGTGGGAGAGGGAGCACAAGAGGGGGTGGAGGGAACCAAAAAGAACACAAAGACGAAGACACTAAGAAGAAAATAATTCGTCAGTATCTCCTTCCACCAGCATTTGTCTAGCAGAGACTCTCTCATCAATAGGATGTTAATAGATGTTAGGAAATTCCAGACACAAGAGCTGAGGGAAAAGTAAAGGGAAGCGGAGGAGGCAGCGGCTCTGCTCTAAAAACTTGGCCATCTGAGGTTTTGCCACCACTC... | GAGACACCCTGTAAGATACATCTCTATGCTGTAGGGACTGCCAATGTCCAGTATTTGAAACAACGGGGCAGAGTGGGAGAGGGAGCACAAGAGGGGGTGGAGGGAACCAAAAAGAACACAAAGACGAAGACACTAAGAAGAAAATAATTCGTCAGTATCTCCTTCCACCAGCATTTGTCTAGCAGAGACTCTCTCATCAATAGGATGTTAATAGATGTTAGGAAATTCCAGACACAAGAGCTGAGGGAAAAGTAAAGGGAAGCGGAGGAGGCAGCGGCTCTGCTCTAAAAACTTGGCCATCTGAGGTTTTGCCACCACTC... | pathogenic | 311,690 |
Evaluate the clinical significance of the mutation at chromosome 20, position 10650281 in gene JAG1 (jagged canonical Notch ligand 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | CCCTGTAAGATACATCTCTATGCTGTAGGGACTGCCAATGTCCAGTATTTGAAACAACGGGGCAGAGTGGGAGAGGGAGCACAAGAGGGGGTGGAGGGAACCAAAAAGAACACAAAGACGAAGACACTAAGAAGAAAATAATTCGTCAGTATCTCCTTCCACCAGCATTTGTCTAGCAGAGACTCTCTCATCAATAGGATGTTAATAGATGTTAGGAAATTCCAGACACAAGAGCTGAGGGAAAAGTAAAGGGAAGCGGAGGAGGCAGCGGCTCTGCTCTAAAAACTTGGCCATCTGAGGTTTTGCCACCACTCACCTGA... | CCCTGTAAGATACATCTCTATGCTGTAGGGACTGCCAATGTCCAGTATTTGAAACAACGGGGCAGAGTGGGAGAGGGAGCACAAGAGGGGGTGGAGGGAACCAAAAAGAACACAAAGACGAAGACACTAAGAAGAAAATAATTCGTCAGTATCTCCTTCCACCAGCATTTGTCTAGCAGAGACTCTCTCATCAATAGGATGTTAATAGATGTTAGGAAATTCCAGACACAAGAGCTGAGGGAAAAGTAAAGGGAAGCGGAGGAGGCAGCGGCTCTGCTCTAAAAACTTGGCCATCTGAGGTTTTGCCACCACTCACCTGA... | pathogenic | 311,691 |
Chromosome 20, position 10658450, gene JAG1 (jagged canonical Notch ligand 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGTCACCTGGGAGTTTGCAAGACCCATGCTTAGGACTGCAGCCTTGTCGGCAAATAGCTGTAAAAAACAGAGAAGGGCGTGTCAGCACACTGCCTGTTCCTTGCATCGCCCCGGTCATGAGAATGGCCCATTGCATTAAAGTCTGCAAATTCCACGATTTTAACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTC... | AGTCACCTGGGAGTTTGCAAGACCCATGCTTAGGACTGCAGCCTTGTCGGCAAATAGCTGTAAAAAACAGAGAAGGGCGTGTCAGCACACTGCCTGTTCCTTGCATCGCCCCGGTCATGAGAATGGCCCATTGCATTAAAGTCTGCAAATTCCACGATTTTAACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTC... | benign | 311,730 |
Does the genetic variant at chromosome 20, position 10658467, impacting gene JAG1 (jagged canonical Notch ligand 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | CAAGACCCATGCTTAGGACTGCAGCCTTGTCGGCAAATAGCTGTAAAAAACAGAGAAGGGCGTGTCAGCACACTGCCTGTTCCTTGCATCGCCCCGGTCATGAGAATGGCCCATTGCATTAAAGTCTGCAAATTCCACGATTTTAACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAAC... | CAAGACCCATGCTTAGGACTGCAGCCTTGTCGGCAAATAGCTGTAAAAAACAGAGAAGGGCGTGTCAGCACACTGCCTGTTCCTTGCATCGCCCCGGTCATGAGAATGGCCCATTGCATTAAAGTCTGCAAATTCCACGATTTTAACAGGTCTCATATCAAGTCCCTTGTAAGGAGAGGAAGATGGGAGGGGCCCAAATAACAAAACCAGCTTTAAACTTCAAGGCCTTGTTAGCAGATTCTGAAAACATGATATTGTTTGGGGACAAAATGCAGACAAGTTGACGAGGGAAGGGGGACCTTCGTCCAGCCTCTCTAAAC... | pathogenic | 311,731 |
Considering the genetic mutation at chromosome 20, position 10663960, impacting JAG1 (jagged canonical Notch ligand 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | GGTACACAGATCGCCTTCTATATTTCTGGCTTATGGCAATGAGTGTTCAAATATCGGTGCCAGACACCCAGAAGGGGCCCTGGGAAGGGACTGCTTTTGGCAAGAGAAGATCCTGAGTTTGGTTTTGACTGTGCTGAATTCAAGATTCCTTGGAAGCATCATAAAAGAGGCCAAATAGGCAAGTGGAGAAACCATTTCCACCAAACCCATCTCCCTCTTCAGGGTTCACCAAGTGAGTTTTGATAACCTGCAATGGGCACCCTTGAGGTTTAAAAGAACTTTATTCCTACCTCAGTCTTTCTTGTCCTCTTCCAGGGATT... | GGTACACAGATCGCCTTCTATATTTCTGGCTTATGGCAATGAGTGTTCAAATATCGGTGCCAGACACCCAGAAGGGGCCCTGGGAAGGGACTGCTTTTGGCAAGAGAAGATCCTGAGTTTGGTTTTGACTGTGCTGAATTCAAGATTCCTTGGAAGCATCATAAAAGAGGCCAAATAGGCAAGTGGAGAAACCATTTCCACCAAACCCATCTCCCTCTTCAGGGTTCACCAAGTGAGTTTTGATAACCTGCAATGGGCACCCTTGAGGTTTAAAAGAACTTTATTCCTACCTCAGTCTTTCTTGTCCTCTTCCAGGGATT... | pathogenic | 311,748 |
Chromosome 20, position 10664011, gene JAG1 (jagged canonical Notch ligand 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | TATCGGTGCCAGACACCCAGAAGGGGCCCTGGGAAGGGACTGCTTTTGGCAAGAGAAGATCCTGAGTTTGGTTTTGACTGTGCTGAATTCAAGATTCCTTGGAAGCATCATAAAAGAGGCCAAATAGGCAAGTGGAGAAACCATTTCCACCAAACCCATCTCCCTCTTCAGGGTTCACCAAGTGAGTTTTGATAACCTGCAATGGGCACCCTTGAGGTTTAAAAGAACTTTATTCCTACCTCAGTCTTTCTTGTCCTCTTCCAGGGATTTGATTACCCCCCCAGGAGATGAAACATCCTAGAACCCCAAAATCGGGCTAC... | TATCGGTGCCAGACACCCAGAAGGGGCCCTGGGAAGGGACTGCTTTTGGCAAGAGAAGATCCTGAGTTTGGTTTTGACTGTGCTGAATTCAAGATTCCTTGGAAGCATCATAAAAGAGGCCAAATAGGCAAGTGGAGAAACCATTTCCACCAAACCCATCTCCCTCTTCAGGGTTCACCAAGTGAGTTTTGATAACCTGCAATGGGCACCCTTGAGGTTTAAAAGAACTTTATTCCTACCTCAGTCTTTCTTGTCCTCTTCCAGGGATTTGATTACCCCCCCAGGAGATGAAACATCCTAGAACCCCAAAATCGGGCTAC... | pathogenic | 311,756 |
Gene JAG1 (jagged canonical Notch ligand 1) variant at chromosome position 10672710 on chromosome 20: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | AGCAGGCCTTTCTGGGGCATCAGGGTGGAGACTTGTTTATGAGTGATACATGCGTTTGTCCCAACTTCAAAAGAACCACATTTTCAGTGGTGCCCCATCGGTCTTCCCCCATTCGAGAAAAGCCGAGAGTCTATTTCATGGTTGGTGACCCGTGGGGCCTGAAACCACAGAAGAGCACCAGCAAATGCAAATCAATCGCCTCTCCTACCCTCCCACACTATTTCCGCTCGTTTTCCATTGAGGACTCTGACCAAGTGTCAAAAGCGGACAGACGCACTTTTCTAGGTCACTTTTCCTTGGCCAGCGAGGGAGCAAGCCTC... | AGCAGGCCTTTCTGGGGCATCAGGGTGGAGACTTGTTTATGAGTGATACATGCGTTTGTCCCAACTTCAAAAGAACCACATTTTCAGTGGTGCCCCATCGGTCTTCCCCCATTCGAGAAAAGCCGAGAGTCTATTTCATGGTTGGTGACCCGTGGGGCCTGAAACCACAGAAGAGCACCAGCAAATGCAAATCAATCGCCTCTCCTACCCTCCCACACTATTTCCGCTCGTTTTCCATTGAGGACTCTGACCAAGTGTCAAAAGCGGACAGACGCACTTTTCTAGGTCACTTTTCCTTGGCCAGCGAGGGAGCAAGCCTC... | pathogenic | 311,762 |
Gene mutation in JAG1 (jagged canonical Notch ligand 1) at chromosome 20, position 10672776—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation', 'Charcot-Marie-Tooth_disease,_axonal,_Type_2HH', 'Deafness,_congenital_heart_defects,_and_posterior_embryotoxon', 'Tetralogy_of_Fallot'] | TCAAAAGAACCACATTTTCAGTGGTGCCCCATCGGTCTTCCCCCATTCGAGAAAAGCCGAGAGTCTATTTCATGGTTGGTGACCCGTGGGGCCTGAAACCACAGAAGAGCACCAGCAAATGCAAATCAATCGCCTCTCCTACCCTCCCACACTATTTCCGCTCGTTTTCCATTGAGGACTCTGACCAAGTGTCAAAAGCGGACAGACGCACTTTTCTAGGTCACTTTTCCTTGGCCAGCGAGGGAGCAAGCCTCCTTGTTTTCATGTTAGCCATCCCTCTGACCCTACTCTCCAAAATGAGCCTCAGCCAGGCTGCTGCT... | TCAAAAGAACCACATTTTCAGTGGTGCCCCATCGGTCTTCCCCCATTCGAGAAAAGCCGAGAGTCTATTTCATGGTTGGTGACCCGTGGGGCCTGAAACCACAGAAGAGCACCAGCAAATGCAAATCAATCGCCTCTCCTACCCTCCCACACTATTTCCGCTCGTTTTCCATTGAGGACTCTGACCAAGTGTCAAAAGCGGACAGACGCACTTTTCTAGGTCACTTTTCCTTGGCCAGCGAGGGAGCAAGCCTCCTTGTTTTCATGTTAGCCATCCCTCTGACCCTACTCTCCAAAATGAGCCTCAGCCAGGCTGCTGCT... | pathogenic | 311,766 |
The genetic variant at chromosome 20, position 10672814, affecting gene JAG1 (jagged canonical Notch ligand 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | TCCCCCATTCGAGAAAAGCCGAGAGTCTATTTCATGGTTGGTGACCCGTGGGGCCTGAAACCACAGAAGAGCACCAGCAAATGCAAATCAATCGCCTCTCCTACCCTCCCACACTATTTCCGCTCGTTTTCCATTGAGGACTCTGACCAAGTGTCAAAAGCGGACAGACGCACTTTTCTAGGTCACTTTTCCTTGGCCAGCGAGGGAGCAAGCCTCCTTGTTTTCATGTTAGCCATCCCTCTGACCCTACTCTCCAAAATGAGCCTCAGCCAGGCTGCTGCTTTTCCACATCACTAATAAGATTCCTTTTATGGTCTTGT... | TCCCCCATTCGAGAAAAGCCGAGAGTCTATTTCATGGTTGGTGACCCGTGGGGCCTGAAACCACAGAAGAGCACCAGCAAATGCAAATCAATCGCCTCTCCTACCCTCCCACACTATTTCCGCTCGTTTTCCATTGAGGACTCTGACCAAGTGTCAAAAGCGGACAGACGCACTTTTCTAGGTCACTTTTCCTTGGCCAGCGAGGGAGCAAGCCTCCTTGTTTTCATGTTAGCCATCCCTCTGACCCTACTCTCCAAAATGAGCCTCAGCCAGGCTGCTGCTTTTCCACATCACTAATAAGATTCCTTTTATGGTCTTGT... | pathogenic | 311,770 |
Evaluate the clinical significance of the mutation at chromosome 20, position 10672817 in gene JAG1 (jagged canonical Notch ligand 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation'] | CCCATTCGAGAAAAGCCGAGAGTCTATTTCATGGTTGGTGACCCGTGGGGCCTGAAACCACAGAAGAGCACCAGCAAATGCAAATCAATCGCCTCTCCTACCCTCCCACACTATTTCCGCTCGTTTTCCATTGAGGACTCTGACCAAGTGTCAAAAGCGGACAGACGCACTTTTCTAGGTCACTTTTCCTTGGCCAGCGAGGGAGCAAGCCTCCTTGTTTTCATGTTAGCCATCCCTCTGACCCTACTCTCCAAAATGAGCCTCAGCCAGGCTGCTGCTTTTCCACATCACTAATAAGATTCCTTTTATGGTCTTGTGAA... | CCCATTCGAGAAAAGCCGAGAGTCTATTTCATGGTTGGTGACCCGTGGGGCCTGAAACCACAGAAGAGCACCAGCAAATGCAAATCAATCGCCTCTCCTACCCTCCCACACTATTTCCGCTCGTTTTCCATTGAGGACTCTGACCAAGTGTCAAAAGCGGACAGACGCACTTTTCTAGGTCACTTTTCCTTGGCCAGCGAGGGAGCAAGCCTCCTTGTTTTCATGTTAGCCATCCCTCTGACCCTACTCTCCAAAATGAGCCTCAGCCAGGCTGCTGCTTTTCCACATCACTAATAAGATTCCTTTTATGGTCTTGTGAA... | pathogenic | 311,771 |
Is the genetic mutation found on chromosome 20 at position 10673456, within the gene JAG1 (jagged canonical Notch ligand 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Alagille_syndrome_due_to_a_JAG1_point_mutation', 'Retinal_dystrophy'] | TATCTCACCCACAGCAGAGGGCACTTTATAATGCCAGCTCCTGTAATCGTGGATTTTAAGAGCCACCCCAAGCTTCATACACAGACACAGCCAGATAGTCTCCCCTCTGTCTCCTCCCAGAATCACAACCTAAGCCGGCGGACAGGAGGCAGCAGAGTGCACCCCATTAGAGCACGTGGTGGAAAGCAATGCTCTGGGGCACCGAGCTCCCCCTCTCACCACCCACCCTCCCAGCACAGGCTAGGCCAAGCCCCAGTCTTGGCAATGAGTCATGCCTCCTGGACAGCAGGAGCCAGGCAGAGGGCACACCCCCAACATTT... | TATCTCACCCACAGCAGAGGGCACTTTATAATGCCAGCTCCTGTAATCGTGGATTTTAAGAGCCACCCCAAGCTTCATACACAGACACAGCCAGATAGTCTCCCCTCTGTCTCCTCCCAGAATCACAACCTAAGCCGGCGGACAGGAGGCAGCAGAGTGCACCCCATTAGAGCACGTGGTGGAAAGCAATGCTCTGGGGCACCGAGCTCCCCCTCTCACCACCCACCCTCCCAGCACAGGCTAGGCCAAGCCCCAGTCTTGGCAATGAGTCATGCCTCCTGGACAGCAGGAGCCAGGCAGAGGGCACACCCCCAACATTT... | pathogenic | 311,784 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 10673823, gene JAG1 (jagged canonical Notch ligand 1). What disease(s) is it linked to if pathogenic? | benign | TTGGGATGTTGCAAGGGCCTCGCTGCAGGATCTGCCAGCTGGGCCCGGGCCTCGAGCTCCTTTGGGGGCGGAATGGGGCGGGGGGATGAGGGCCTATCACTTACACCCTCAGGCACTACCTCCAGAAGACCACCCCTTCCAAGCCTTGGCACGGCCCCCGAAGGCTTGCGGGGGCCGTGCACCCGCCCTTCCCGGGGAAGTCTGCAAACACAGCTGTTCCAGAGCCCGGGAACCGCTGGAAGTGAGGCCACAAGAGCTACACCACTCGGGGGCGGGGGCAGGAAGGGGCCAGCAGCGGGCGGGGGTTCCCAGGTCTACAG... | TTGGGATGTTGCAAGGGCCTCGCTGCAGGATCTGCCAGCTGGGCCCGGGCCTCGAGCTCCTTTGGGGGCGGAATGGGGCGGGGGGATGAGGGCCTATCACTTACACCCTCAGGCACTACCTCCAGAAGACCACCCCTTCCAAGCCTTGGCACGGCCCCCGAAGGCTTGCGGGGGCCGTGCACCCGCCCTTCCCGGGGAAGTCTGCAAACACAGCTGTTCCAGAGCCCGGGAACCGCTGGAAGTGAGGCCACAAGAGCTACACCACTCGGGGGCGGGGGCAGGAAGGGGCCAGCAGCGGGCGGGGGTTCCCAGGTCTACAG... | benign | 311,792 |
The mutation in gene NDUFAF5 at chromosome 20, position 13785096—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_16'] | TTTTCGATCCTTTTCTGGCATTTCCCAAAATCTCGGGTCCTTTGCAACCCGTCTAAACCGCTGGTCACTCATTATTTCTTGTTTGGATGACATTTTTAATTCTTAATCTCGACCAAATGCTTGAAGAAAACAAATACTGAAAAATAAAACAAATGTTTTAATGGTAATAATGGTTAGTACAATAATTAAATGTTTTAAAACACATTCACAATATATTCTAAGTTAATATATTCTAAGTTAAGTGTACATAAAATAGAGGTAACAAGTCTAATTTCATCTCTCCAACGTATTCTGGGTCACATGCAAAAAAGCAGAAACAT... | TTTTCGATCCTTTTCTGGCATTTCCCAAAATCTCGGGTCCTTTGCAACCCGTCTAAACCGCTGGTCACTCATTATTTCTTGTTTGGATGACATTTTTAATTCTTAATCTCGACCAAATGCTTGAAGAAAACAAATACTGAAAAATAAAACAAATGTTTTAATGGTAATAATGGTTAGTACAATAATTAAATGTTTTAAAACACATTCACAATATATTCTAAGTTAATATATTCTAAGTTAAGTGTACATAAAATAGAGGTAACAAGTCTAATTTCATCTCTCCAACGTATTCTGGGTCACATGCAAAAAAGCAGAAACAT... | pathogenic | 311,806 |
Is the chromosome 20, position 13785111 variant in NDUFAF5 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_16'] | TGGCATTTCCCAAAATCTCGGGTCCTTTGCAACCCGTCTAAACCGCTGGTCACTCATTATTTCTTGTTTGGATGACATTTTTAATTCTTAATCTCGACCAAATGCTTGAAGAAAACAAATACTGAAAAATAAAACAAATGTTTTAATGGTAATAATGGTTAGTACAATAATTAAATGTTTTAAAACACATTCACAATATATTCTAAGTTAATATATTCTAAGTTAAGTGTACATAAAATAGAGGTAACAAGTCTAATTTCATCTCTCCAACGTATTCTGGGTCACATGCAAAAAAGCAGAAACATACCAAAATATCCTCT... | TGGCATTTCCCAAAATCTCGGGTCCTTTGCAACCCGTCTAAACCGCTGGTCACTCATTATTTCTTGTTTGGATGACATTTTTAATTCTTAATCTCGACCAAATGCTTGAAGAAAACAAATACTGAAAAATAAAACAAATGTTTTAATGGTAATAATGGTTAGTACAATAATTAAATGTTTTAAAACACATTCACAATATATTCTAAGTTAATATATTCTAAGTTAAGTGTACATAAAATAGAGGTAACAAGTCTAATTTCATCTCTCCAACGTATTCTGGGTCACATGCAAAAAAGCAGAAACATACCAAAATATCCTCT... | pathogenic | 311,809 |
Considering the genetic mutation at chromosome 20, position 13785231, impacting NDUFAF5: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_16'] | ACTGAAAAATAAAACAAATGTTTTAATGGTAATAATGGTTAGTACAATAATTAAATGTTTTAAAACACATTCACAATATATTCTAAGTTAATATATTCTAAGTTAAGTGTACATAAAATAGAGGTAACAAGTCTAATTTCATCTCTCCAACGTATTCTGGGTCACATGCAAAAAAGCAGAAACATACCAAAATATCCTCTTTCCATGACAGATCATTTAGAGAAATAAACTTAAGGTAGACAAAGCAGAATCCCAGGGCTTTATGGAGGGGAACAAATGTTTATTCATCCATTGCTCTCACTTAGAATTTCTATTTGTAT... | ACTGAAAAATAAAACAAATGTTTTAATGGTAATAATGGTTAGTACAATAATTAAATGTTTTAAAACACATTCACAATATATTCTAAGTTAATATATTCTAAGTTAAGTGTACATAAAATAGAGGTAACAAGTCTAATTTCATCTCTCCAACGTATTCTGGGTCACATGCAAAAAAGCAGAAACATACCAAAATATCCTCTTTCCATGACAGATCATTTAGAGAAATAAACTTAAGGTAGACAAAGCAGAATCCCAGGGCTTTATGGAGGGGAACAAATGTTTATTCATCCATTGCTCTCACTTAGAATTTCTATTTGTAT... | pathogenic | 311,812 |
Considering the variant on chromosome 20, location 13785241, involving gene NDUFAF5, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_16'] | AAAACAAATGTTTTAATGGTAATAATGGTTAGTACAATAATTAAATGTTTTAAAACACATTCACAATATATTCTAAGTTAATATATTCTAAGTTAAGTGTACATAAAATAGAGGTAACAAGTCTAATTTCATCTCTCCAACGTATTCTGGGTCACATGCAAAAAAGCAGAAACATACCAAAATATCCTCTTTCCATGACAGATCATTTAGAGAAATAAACTTAAGGTAGACAAAGCAGAATCCCAGGGCTTTATGGAGGGGAACAAATGTTTATTCATCCATTGCTCTCACTTAGAATTTCTATTTGTATACCAGTATGT... | AAAACAAATGTTTTAATGGTAATAATGGTTAGTACAATAATTAAATGTTTTAAAACACATTCACAATATATTCTAAGTTAATATATTCTAAGTTAAGTGTACATAAAATAGAGGTAACAAGTCTAATTTCATCTCTCCAACGTATTCTGGGTCACATGCAAAAAAGCAGAAACATACCAAAATATCCTCTTTCCATGACAGATCATTTAGAGAAATAAACTTAAGGTAGACAAAGCAGAATCCCAGGGCTTTATGGAGGGGAACAAATGTTTATTCATCCATTGCTCTCACTTAGAATTTCTATTTGTATACCAGTATGT... | pathogenic | 311,813 |
Is the genetic change at chromosome 20, position 13785269, within gene NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_16'] | TTAGTACAATAATTAAATGTTTTAAAACACATTCACAATATATTCTAAGTTAATATATTCTAAGTTAAGTGTACATAAAATAGAGGTAACAAGTCTAATTTCATCTCTCCAACGTATTCTGGGTCACATGCAAAAAAGCAGAAACATACCAAAATATCCTCTTTCCATGACAGATCATTTAGAGAAATAAACTTAAGGTAGACAAAGCAGAATCCCAGGGCTTTATGGAGGGGAACAAATGTTTATTCATCCATTGCTCTCACTTAGAATTTCTATTTGTATACCAGTATGTGTTACTAATTGAAGGCAAATGTAGTTAA... | TTAGTACAATAATTAAATGTTTTAAAACACATTCACAATATATTCTAAGTTAATATATTCTAAGTTAAGTGTACATAAAATAGAGGTAACAAGTCTAATTTCATCTCTCCAACGTATTCTGGGTCACATGCAAAAAAGCAGAAACATACCAAAATATCCTCTTTCCATGACAGATCATTTAGAGAAATAAACTTAAGGTAGACAAAGCAGAATCCCAGGGCTTTATGGAGGGGAACAAATGTTTATTCATCCATTGCTCTCACTTAGAATTTCTATTTGTATACCAGTATGTGTTACTAATTGAAGGCAAATGTAGTTAA... | pathogenic | 311,814 |
Does the genetic variant at chromosome 20, position 13785296, impacting gene NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CACATTCACAATATATTCTAAGTTAATATATTCTAAGTTAAGTGTACATAAAATAGAGGTAACAAGTCTAATTTCATCTCTCCAACGTATTCTGGGTCACATGCAAAAAAGCAGAAACATACCAAAATATCCTCTTTCCATGACAGATCATTTAGAGAAATAAACTTAAGGTAGACAAAGCAGAATCCCAGGGCTTTATGGAGGGGAACAAATGTTTATTCATCCATTGCTCTCACTTAGAATTTCTATTTGTATACCAGTATGTGTTACTAATTGAAGGCAAATGTAGTTAAGATTCCCTAGGCCGAGTGCGGTGGCTC... | CACATTCACAATATATTCTAAGTTAATATATTCTAAGTTAAGTGTACATAAAATAGAGGTAACAAGTCTAATTTCATCTCTCCAACGTATTCTGGGTCACATGCAAAAAAGCAGAAACATACCAAAATATCCTCTTTCCATGACAGATCATTTAGAGAAATAAACTTAAGGTAGACAAAGCAGAATCCCAGGGCTTTATGGAGGGGAACAAATGTTTATTCATCCATTGCTCTCACTTAGAATTTCTATTTGTATACCAGTATGTGTTACTAATTGAAGGCAAATGTAGTTAAGATTCCCTAGGCCGAGTGCGGTGGCTC... | benign | 311,817 |
Gene NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5) variant at chromosome 20, position 13785298—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CATTCACAATATATTCTAAGTTAATATATTCTAAGTTAAGTGTACATAAAATAGAGGTAACAAGTCTAATTTCATCTCTCCAACGTATTCTGGGTCACATGCAAAAAAGCAGAAACATACCAAAATATCCTCTTTCCATGACAGATCATTTAGAGAAATAAACTTAAGGTAGACAAAGCAGAATCCCAGGGCTTTATGGAGGGGAACAAATGTTTATTCATCCATTGCTCTCACTTAGAATTTCTATTTGTATACCAGTATGTGTTACTAATTGAAGGCAAATGTAGTTAAGATTCCCTAGGCCGAGTGCGGTGGCTCAC... | CATTCACAATATATTCTAAGTTAATATATTCTAAGTTAAGTGTACATAAAATAGAGGTAACAAGTCTAATTTCATCTCTCCAACGTATTCTGGGTCACATGCAAAAAAGCAGAAACATACCAAAATATCCTCTTTCCATGACAGATCATTTAGAGAAATAAACTTAAGGTAGACAAAGCAGAATCCCAGGGCTTTATGGAGGGGAACAAATGTTTATTCATCCATTGCTCTCACTTAGAATTTCTATTTGTATACCAGTATGTGTTACTAATTGAAGGCAAATGTAGTTAAGATTCCCTAGGCCGAGTGCGGTGGCTCAC... | benign | 311,818 |
Is the genetic variant on chromosome 20, position 13788598, gene NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_16'] | TGGACTCCTGGGAAAAACATCTACGCTCCCTTCTCCCTTGCCCTTCTCTCAAAAAGCAGGTACATCTGTGTTTGGAACTTTTAAGTCCTAAGAGCAACTCTGGGGTGTTTATGAGGGAATGAGTGGAATGTGGGGAATACTAGACTCCCACGTCTTTATTGCTACCAGATGAAGCTAGGCCAGCAAAAGGTGGTGCTTACCTTATGACTCTTAAATTGGGATGGGATTGGAGCAGGGGAGGTGCACTTTCCTCAGATTTGGCTTTTTCTAACTTGCGAATGTCACTCAGAAAAGTTGTTCATTTATGAGTTCCACAAAAT... | TGGACTCCTGGGAAAAACATCTACGCTCCCTTCTCCCTTGCCCTTCTCTCAAAAAGCAGGTACATCTGTGTTTGGAACTTTTAAGTCCTAAGAGCAACTCTGGGGTGTTTATGAGGGAATGAGTGGAATGTGGGGAATACTAGACTCCCACGTCTTTATTGCTACCAGATGAAGCTAGGCCAGCAAAAGGTGGTGCTTACCTTATGACTCTTAAATTGGGATGGGATTGGAGCAGGGGAGGTGCACTTTCCTCAGATTTGGCTTTTTCTAACTTGCGAATGTCACTCAGAAAAGTTGTTCATTTATGAGTTCCACAAAAT... | pathogenic | 311,828 |
Evaluate the clinical significance of the mutation at chromosome 20, position 13794869 in gene NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_16'] | ACTCTTTGGATGAACAACTAAAAGGCGGGAAACTCATAGCAGGTCCTTTGTGACACAGGAGTGGGGAAATAGCTCTTAGCATGTTATGCCATGGAAAAGTTAACACGGAAGCCCTCACCCAGTGTAGTAAATTCGGAATGTTGAATACGCATACTCATGTTCTCTATTTTATTACATATAGTTAAATATAGCAAAGGATATGTGTTATTAAAAGTATTTGTGTACCATACTGGTTTTATGCAGAAATATACCTTTACAAAGCTGAAAATTAAAATGTAATTAACACTTTTACCTTTAGAAATGTCAGCAATTGTTTGTGA... | ACTCTTTGGATGAACAACTAAAAGGCGGGAAACTCATAGCAGGTCCTTTGTGACACAGGAGTGGGGAAATAGCTCTTAGCATGTTATGCCATGGAAAAGTTAACACGGAAGCCCTCACCCAGTGTAGTAAATTCGGAATGTTGAATACGCATACTCATGTTCTCTATTTTATTACATATAGTTAAATATAGCAAAGGATATGTGTTATTAAAAGTATTTGTGTACCATACTGGTTTTATGCAGAAATATACCTTTACAAAGCTGAAAATTAAAATGTAATTAACACTTTTACCTTTAGAAATGTCAGCAATTGTTTGTGA... | pathogenic | 311,833 |
Is the genetic mutation found on chromosome 20 at position 13794900, within the gene NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_16'] | ACTCATAGCAGGTCCTTTGTGACACAGGAGTGGGGAAATAGCTCTTAGCATGTTATGCCATGGAAAAGTTAACACGGAAGCCCTCACCCAGTGTAGTAAATTCGGAATGTTGAATACGCATACTCATGTTCTCTATTTTATTACATATAGTTAAATATAGCAAAGGATATGTGTTATTAAAAGTATTTGTGTACCATACTGGTTTTATGCAGAAATATACCTTTACAAAGCTGAAAATTAAAATGTAATTAACACTTTTACCTTTAGAAATGTCAGCAATTGTTTGTGACTGGATTTGTTTGTTTCAGCTTCAGTTATTC... | ACTCATAGCAGGTCCTTTGTGACACAGGAGTGGGGAAATAGCTCTTAGCATGTTATGCCATGGAAAAGTTAACACGGAAGCCCTCACCCAGTGTAGTAAATTCGGAATGTTGAATACGCATACTCATGTTCTCTATTTTATTACATATAGTTAAATATAGCAAAGGATATGTGTTATTAAAAGTATTTGTGTACCATACTGGTTTTATGCAGAAATATACCTTTACAAAGCTGAAAATTAAAATGTAATTAACACTTTTACCTTTAGAAATGTCAGCAATTGTTTGTGACTGGATTTGTTTGTTTCAGCTTCAGTTATTC... | pathogenic | 311,834 |
Clinical significance of chromosome 20, position 13801494, gene NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_16'] | CCCAGTACTTTGGGAGGCTGAGGTGGTTGCATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGTGCTTGTAATCCCAGCTACTTGGGATGCTGAGGCAGGAGATTCTCTTGAACACGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTAGACGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAGAAACTGATGCCTGGAGCAGTTCGTTAAATTGAAGGGAGACTGTTTCAG... | CCCAGTACTTTGGGAGGCTGAGGTGGTTGCATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGTGCTTGTAATCCCAGCTACTTGGGATGCTGAGGCAGGAGATTCTCTTGAACACGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTAGACGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAGAAACTGATGCCTGGAGCAGTTCGTTAAATTGAAGGGAGACTGTTTCAG... | pathogenic | 311,844 |
Gene NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5) variant at chromosome 20, position 13801515—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_16'] | GGTGGTTGCATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGTGCTTGTAATCCCAGCTACTTGGGATGCTGAGGCAGGAGATTCTCTTGAACACGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTAGACGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAGAAACTGATGCCTGGAGCAGTTCGTTAAATTGAAGGGAGACTGTTTCAGTGGTCCAAGAATGAGATAAAC... | GGTGGTTGCATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGTGCTTGTAATCCCAGCTACTTGGGATGCTGAGGCAGGAGATTCTCTTGAACACGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTAGACGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAGAAACTGATGCCTGGAGCAGTTCGTTAAATTGAAGGGAGACTGTTTCAGTGGTCCAAGAATGAGATAAAC... | pathogenic | 311,845 |
Classify the chromosome 20 variant at position 13801548 affecting gene NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_16'] | ACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGTGCTTGTAATCCCAGCTACTTGGGATGCTGAGGCAGGAGATTCTCTTGAACACGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTAGACGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAGAAACTGATGCCTGGAGCAGTTCGTTAAATTGAAGGGAGACTGTTTCAGTGGTCCAAGAATGAGATAAACTAAACCTAGGTGGTAATGGTAGGAGTTAAAAGG... | ACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGTGCTTGTAATCCCAGCTACTTGGGATGCTGAGGCAGGAGATTCTCTTGAACACGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTAGACGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAGAAACTGATGCCTGGAGCAGTTCGTTAAATTGAAGGGAGACTGTTTCAGTGGTCCAAGAATGAGATAAACTAAACCTAGGTGGTAATGGTAGGAGTTAAAAGG... | pathogenic | 311,846 |
The mutation impacting NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5) on chromosome 20 at position 13801653: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_16'] | AGGAGATTCTCTTGAACACGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTAGACGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAGAAACTGATGCCTGGAGCAGTTCGTTAAATTGAAGGGAGACTGTTTCAGTGGTCCAAGAATGAGATAAACTAAACCTAGGTGGTAATGGTAGGAGTTAAAAGGAAGAGTATTTAGGACTCTACAAGGAAAGAATCAACAGTTTGGTGACTGATTAGATCTGAAGATCAAAGGGAGGAGGCAAAACTCACTTTGAAGTTTTTGAGTCTG... | AGGAGATTCTCTTGAACACGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTAGACGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAGAAACTGATGCCTGGAGCAGTTCGTTAAATTGAAGGGAGACTGTTTCAGTGGTCCAAGAATGAGATAAACTAAACCTAGGTGGTAATGGTAGGAGTTAAAAGGAAGAGTATTTAGGACTCTACAAGGAAAGAATCAACAGTTTGGTGACTGATTAGATCTGAAGATCAAAGGGAGGAGGCAAAACTCACTTTGAAGTTTTTGAGTCTG... | pathogenic | 311,853 |
Mutation at chromosome 20, position 13801674, within NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Leigh_syndrome', 'Mitochondrial_complex_1_deficiency,_nuclear_type_16'] | GAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTAGACGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAGAAACTGATGCCTGGAGCAGTTCGTTAAATTGAAGGGAGACTGTTTCAGTGGTCCAAGAATGAGATAAACTAAACCTAGGTGGTAATGGTAGGAGTTAAAAGGAAGAGTATTTAGGACTCTACAAGGAAAGAATCAACAGTTTGGTGACTGATTAGATCTGAAGATCAAAGGGAGGAGGCAAAACTCACTTTGAAGTTTTTGAGTCTGGATTAGTAAAAGTAGGGGAAA... | GAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTAGACGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAGAAACTGATGCCTGGAGCAGTTCGTTAAATTGAAGGGAGACTGTTTCAGTGGTCCAAGAATGAGATAAACTAAACCTAGGTGGTAATGGTAGGAGTTAAAAGGAAGAGTATTTAGGACTCTACAAGGAAAGAATCAACAGTTTGGTGACTGATTAGATCTGAAGATCAAAGGGAGGAGGCAAAACTCACTTTGAAGTTTTTGAGTCTGGATTAGTAAAAGTAGGGGAAA... | pathogenic | 311,854 |
Clinical impact (benign or pathogenic) of the variant at chromosome 20, location 19886698, gene RIN2 (Ras and Rab interactor 2): what disease(s) if pathogenic? | benign | CATAGTTCGAATTGTCAAGTCTGATCCTGGAATAACATTTGTCTGTCCAACGTGTAAAATATTGAGTAATACAAAGATAATTATGGAAATATTCAGAGAACTTCCCTGGACCCAGACACAGAGCCACCTCCATTTCCTCCTACCTCTCTTAGAAAAAAACAAAAAGCATTAAAAGGAGAGATGACCTGTCTCCCTGGGAGCTGGTTAAGCGACCAGGCAAAAAAAGTGAGATGCATTTCTTAGATTCGGACTTGACCTGACAGGTCCTCTAGGGTGAGTCACTTTTTCCTATTTCAGTCAATTTGGCTGTAAAATAATTA... | CATAGTTCGAATTGTCAAGTCTGATCCTGGAATAACATTTGTCTGTCCAACGTGTAAAATATTGAGTAATACAAAGATAATTATGGAAATATTCAGAGAACTTCCCTGGACCCAGACACAGAGCCACCTCCATTTCCTCCTACCTCTCTTAGAAAAAAACAAAAAGCATTAAAAGGAGAGATGACCTGTCTCCCTGGGAGCTGGTTAAGCGACCAGGCAAAAAAAGTGAGATGCATTTCTTAGATTCGGACTTGACCTGACAGGTCCTCTAGGGTGAGTCACTTTTTCCTATTTCAGTCAATTTGGCTGTAAAATAATTA... | benign | 312,040 |
Is the genetic variant on chromosome 20, position 21126176, gene KIZ, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_69'] | GCTCTTCTAGAACACGTTCTAAGTACCCAACACCCTTACCTTCCCTGCTCAAAGGGGCCCAAGCTGCTTTCTAAGGCTTTAAAAGGCCTCTTGGCTGGGTCTTTCCTGCAAGGGTGACCATCACTGGCATGCTCACTGCCCGGCCAAGAGGAGGCTGAGGTGGGGATGTAGGCAGAGTTGGGACTTGCTGGCTGGAGAAGAGGAGGAGAAGAGGCAGGGCACACACATCCCTGCTAGTGTATGAGACCCCCTCACAAAGCAAGACTGAGCCTGGGGTGGGAAATGGAGTTGGGGGGAGCTGGAGAAGCAGGCAAACTAAA... | GCTCTTCTAGAACACGTTCTAAGTACCCAACACCCTTACCTTCCCTGCTCAAAGGGGCCCAAGCTGCTTTCTAAGGCTTTAAAAGGCCTCTTGGCTGGGTCTTTCCTGCAAGGGTGACCATCACTGGCATGCTCACTGCCCGGCCAAGAGGAGGCTGAGGTGGGGATGTAGGCAGAGTTGGGACTTGCTGGCTGGAGAAGAGGAGGAGAAGAGGCAGGGCACACACATCCCTGCTAGTGTATGAGACCCCCTCACAAAGCAAGACTGAGCCTGGGGTGGGAAATGGAGTTGGGGGGAGCTGGAGAAGCAGGCAAACTAAA... | pathogenic | 312,130 |
Clinical impact (benign or pathogenic) of the variant at chromosome 20, location 21132119, gene KIZ (kizuna centrosomal protein): what disease(s) if pathogenic? | pathogenic | ATCAGATTTCACCAGCTATCTTAACGATGCTCCCTTTTTTTTCCCCCTGGTCCAGTGGCTCACCTGCAAACCGCGGTTGCATTTGGCTGGCATGTCTCTTCAGTCTCCCTACATCTGGAACGATTCCTCAGTCTTTCCCTGTCTTTCATGTTCCTGACAAGTTCATAGAGTACAGCTTTCATTCTAGAGGGTGACCCTCAAGCTGAGTCTATCTGATGGTGTCTCATTACCAGACTGCAGTCGTGCTTTCTTAGGAATACAACAGAAATGAAGCACTACCTCAGGGCATGGGGTCATAGATGTATTCAGAGGTCTTCCTT... | ATCAGATTTCACCAGCTATCTTAACGATGCTCCCTTTTTTTTCCCCCTGGTCCAGTGGCTCACCTGCAAACCGCGGTTGCATTTGGCTGGCATGTCTCTTCAGTCTCCCTACATCTGGAACGATTCCTCAGTCTTTCCCTGTCTTTCATGTTCCTGACAAGTTCATAGAGTACAGCTTTCATTCTAGAGGGTGACCCTCAAGCTGAGTCTATCTGATGGTGTCTCATTACCAGACTGCAGTCGTGCTTTCTTAGGAATACAACAGAAATGAAGCACTACCTCAGGGCATGGGGTCATAGATGTATTCAGAGGTCTTCCTT... | pathogenic | 312,131 |
Does the variant impacting KIZ (kizuna centrosomal protein) on chromosome 20, position 21132125, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_69'] | TTTCACCAGCTATCTTAACGATGCTCCCTTTTTTTTCCCCCTGGTCCAGTGGCTCACCTGCAAACCGCGGTTGCATTTGGCTGGCATGTCTCTTCAGTCTCCCTACATCTGGAACGATTCCTCAGTCTTTCCCTGTCTTTCATGTTCCTGACAAGTTCATAGAGTACAGCTTTCATTCTAGAGGGTGACCCTCAAGCTGAGTCTATCTGATGGTGTCTCATTACCAGACTGCAGTCGTGCTTTCTTAGGAATACAACAGAAATGAAGCACTACCTCAGGGCATGGGGTCATAGATGTATTCAGAGGTCTTCCTTTCTTTG... | TTTCACCAGCTATCTTAACGATGCTCCCTTTTTTTTCCCCCTGGTCCAGTGGCTCACCTGCAAACCGCGGTTGCATTTGGCTGGCATGTCTCTTCAGTCTCCCTACATCTGGAACGATTCCTCAGTCTTTCCCTGTCTTTCATGTTCCTGACAAGTTCATAGAGTACAGCTTTCATTCTAGAGGGTGACCCTCAAGCTGAGTCTATCTGATGGTGTCTCATTACCAGACTGCAGTCGTGCTTTCTTAGGAATACAACAGAAATGAAGCACTACCTCAGGGCATGGGGTCATAGATGTATTCAGAGGTCTTCCTTTCTTTG... | pathogenic | 312,132 |
Clinical significance of chromosome 20, position 21136486, gene KIZ: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa'] | GGGAACAATGACAGCTGTGAGAACTCACTAAGATTCATACAAACCCTTAAAGCAGTGTCTGACCTAGAGCCAATTATTATTTATTACAATTTTATCAACATTCTTTTTCCTATTTTTTGCCGTCGAGCTTTCTGACATGCTGTTCCCCCACCTGGAATGTTTTCCCCTCATCTTTTCATTTTTGGCTTCATCAATTTTGATTAACTCTCATTCATCTTTCAGGTTTTTTTTTTTTTTTTTTTTCCCCAAGACAGGGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTC... | GGGAACAATGACAGCTGTGAGAACTCACTAAGATTCATACAAACCCTTAAAGCAGTGTCTGACCTAGAGCCAATTATTATTTATTACAATTTTATCAACATTCTTTTTCCTATTTTTTGCCGTCGAGCTTTCTGACATGCTGTTCCCCCACCTGGAATGTTTTCCCCTCATCTTTTCATTTTTGGCTTCATCAATTTTGATTAACTCTCATTCATCTTTCAGGTTTTTTTTTTTTTTTTTTTTCCCCAAGACAGGGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAGCCTCTGCCTC... | pathogenic | 312,134 |
Clinical significance of chromosome 20, position 21205529, gene KIZ: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy'] | AATGTCGAAAGGTTGATGACTTCAGGACAGAAGTTTACTATTATGTAATTTTCACAAAATTATGACCATTTCCTAGATACATCATTAATTTGGACTTACAAAATGGTGACTTTTCTAATTTGATCATTTCTTCTGCATTTATTGGAAGAACTTTTCCTTGTCAGCTACTTGGTGACTCTGAAATGTATTTTTTGACCACAAAAGCAGGATAAATGCTTTATTCTATTTCTTTATTTACCAATTTGCAGAATAATGAATTGTTGCCCTACCAGCCTCCAAAGGTTTTAAAATTTATTTCTATTTTGTCTTTACTGTGGTTT... | AATGTCGAAAGGTTGATGACTTCAGGACAGAAGTTTACTATTATGTAATTTTCACAAAATTATGACCATTTCCTAGATACATCATTAATTTGGACTTACAAAATGGTGACTTTTCTAATTTGATCATTTCTTCTGCATTTATTGGAAGAACTTTTCCTTGTCAGCTACTTGGTGACTCTGAAATGTATTTTTTGACCACAAAAGCAGGATAAATGCTTTATTCTATTTCTTTATTTACCAATTTGCAGAATAATGAATTGTTGCCCTACCAGCCTCCAAAGGTTTTAAAATTTATTTCTATTTTGTCTTTACTGTGGTTT... | pathogenic | 312,153 |
The mutation impacting THBD (thrombomodulin) on chromosome 20 at position 23049259: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Abnormal_thrombosis', 'Atypical_hemolytic-uremic_syndrome_with_thrombomodulin_anomaly'] | AAAACTAGGAAGAATGGGGAATAAGTGGGGCTTGCTTCATAAATGTGAGAGGGCTAGGAAAAAAAAATTCACCAAGATAGTTTACCTGTCACATGACAAGTGGGAGTTTGTAGAGAGAGAGAGACCGGAGAGCTGTGCAAAGTGGATACTGGAGACATACAGGTAAGAACAAAGGAAACAAACAAAAACCTAAATACTTAAAAAAAATAAATATTTTAGTCATCCCTAGCCCACGAGGTCAAGGTCTGCCCAGAAGGCTGCCGACCAATAACGCTCACCCTCCTGCGCCCGGTAGTGAGGACCTGGGACAAATCGCAGTC... | AAAACTAGGAAGAATGGGGAATAAGTGGGGCTTGCTTCATAAATGTGAGAGGGCTAGGAAAAAAAAATTCACCAAGATAGTTTACCTGTCACATGACAAGTGGGAGTTTGTAGAGAGAGAGAGACCGGAGAGCTGTGCAAAGTGGATACTGGAGACATACAGGTAAGAACAAAGGAAACAAACAAAAACCTAAATACTTAAAAAAAATAAATATTTTAGTCATCCCTAGCCCACGAGGTCAAGGTCTGCCCAGAAGGCTGCCGACCAATAACGCTCACCCTCCTGCGCCCGGTAGTGAGGACCTGGGACAAATCGCAGTC... | pathogenic | 312,217 |
Variant in ABHD12 (abhydrolase domain containing 12, lysophospholipase), chromosome 20, position 25302300—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; [] | CTAAGGCCAGGTTAGGTGTACAGGTAGGTGAAAGGGGAGGAAGTGCAGATCCCGGGCACTTCCACTGTGGGTGAGTGGGCCAGCCCAGGGGAGGTGGGGCAGCTGAGAAAGGCAAGCAGGTACACAGGGCAGGAGGGGACGATGGAACCACTGGAGTCATTCTGCATGTGCTGGGAAGGTGCAGAAAGAACCTGGACCCCACGTTCTCTGTGGGTGGTGCCAAAAAGCTCAGCATGGTCCCGAGCCCCAAGAGTCCCCTGCCCGGACTCCCCCTGTCCAGCTCAGTGCAGCATCAAGCAGGCAGTGATGGCTGCCTGCTG... | CTAAGGCCAGGTTAGGTGTACAGGTAGGTGAAAGGGGAGGAAGTGCAGATCCCGGGCACTTCCACTGTGGGTGAGTGGGCCAGCCCAGGGGAGGTGGGGCAGCTGAGAAAGGCAAGCAGGTACACAGGGCAGGAGGGGACGATGGAACCACTGGAGTCATTCTGCATGTGCTGGGAAGGTGCAGAAAGAACCTGGACCCCACGTTCTCTGTGGGTGGTGCCAAAAAGCTCAGCATGGTCCCGAGCCCCAAGAGTCCCCTGCCCGGACTCCCCCTGTCCAGCTCAGTGCAGCATCAAGCAGGCAGTGATGGCTGCCTGCTG... | pathogenic | 312,306 |
Does the variant on chromosome 20 at location 32433354 affecting gene ASXL1 (ASXL transcriptional regulator 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Bohring-Opitz_syndrome'] | CTTCAAAAATCATAGGTCAAATGAAGCGCAACAGAGGGGAAGAAATAGATTTTGAGACACCTGGGTCCATTCTTGTCAACACCAACCTCCGTGCCCTGATCAACTCTCGGACCTTCCATGCCTTACCATCACACTTCCAGCAGCAGCTCCTCTTCCTCCTGCCTGAAGTAGACAGACAGGTGCACATGGGCAGCCTCCCCTTTGCCTCTCTCTGGGTGGGCTTCTGTTCTCTTTTAAGTTTATTTATTAGGATTTTTTTCCCCCTTGATCCTTCTAGGTGGGGACGGATGGCCTGTTGCGTCTCAGCAGCAGTGCACTAA... | CTTCAAAAATCATAGGTCAAATGAAGCGCAACAGAGGGGAAGAAATAGATTTTGAGACACCTGGGTCCATTCTTGTCAACACCAACCTCCGTGCCCTGATCAACTCTCGGACCTTCCATGCCTTACCATCACACTTCCAGCAGCAGCTCCTCTTCCTCCTGCCTGAAGTAGACAGACAGGTGCACATGGGCAGCCTCCCCTTTGCCTCTCTCTGGGTGGGCTTCTGTTCTCTTTTAAGTTTATTTATTAGGATTTTTTTCCCCCTTGATCCTTCTAGGTGGGGACGGATGGCCTGTTGCGTCTCAGCAGCAGTGCACTAA... | pathogenic | 312,553 |
Is the chromosome 20, position 32433739 variant in ASXL1 (ASXL transcriptional regulator 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Bohring-Opitz_syndrome', 'Inborn_genetic_diseases'] | TGGTCATCTCGGACGGCTTGCGACGCACCTGTCGTGTGGTGTTGCATGTCTCCTGGTATTTAAAACCCAAGCTCGCTCTTCTCAAAGGGTTATTTAGTATAAGACAGGCTTTCCTCATTACTAATAAATGTGGTGGGTATTAATATGCCACACAGCTCTGAAGAAATAACAGGGTGTTTAGGTTTAGACTTTCACTATATTGTATGTATGTACTCATTCATCATCTCCTTTTTATCATTAAAACTATAAACACCTATTCCAGTAATCATGGCATGGTCTGGAAGGGTGGAGGAAAGTACACTGTGGAGTTGAGAAGCTCC... | TGGTCATCTCGGACGGCTTGCGACGCACCTGTCGTGTGGTGTTGCATGTCTCCTGGTATTTAAAACCCAAGCTCGCTCTTCTCAAAGGGTTATTTAGTATAAGACAGGCTTTCCTCATTACTAATAAATGTGGTGGGTATTAATATGCCACACAGCTCTGAAGAAATAACAGGGTGTTTAGGTTTAGACTTTCACTATATTGTATGTATGTACTCATTCATCATCTCCTTTTTATCATTAAAACTATAAACACCTATTCCAGTAATCATGGCATGGTCTGGAAGGGTGGAGGAAAGTACACTGTGGAGTTGAGAAGCTCC... | pathogenic | 312,571 |
Variant chromosome 20, position 32434599, gene ASXL1 (ASXL transcriptional regulator 1): benign or pathogenic? Disease(s)? | pathogenic; ['Bohring-Opitz_syndrome', 'Cafe-au-lait_spot', 'Juvenile_myelomonocytic_leukemia'] | ATGTCAGCCAAGGGCTGTTCTTTTAAGTAGGCCTTTCTAAGAGTAAACAATCAGGCCTACCTACTATGTTAACTTTTTATCTACACAGGAAATATGAATGGTTCTTTTGTTTGTTGTTTTGCTTTTTCGATCAAGGAGTTGCTTGGTCTCACTTTAAGGAAGAGTGAATTTCCCTTATAGTAGATGTGTTAGCTCTGTCCCTATAAGAGCATGATGTGAGAGAGCCTTTAGAAGAGACGTGTTGTTTTAAAACTGGGAGATTCAGCTGTCCATAAGACAGACATTAATATCCCGAATGCACTTACTAGAAGAGGTTTATT... | ATGTCAGCCAAGGGCTGTTCTTTTAAGTAGGCCTTTCTAAGAGTAAACAATCAGGCCTACCTACTATGTTAACTTTTTATCTACACAGGAAATATGAATGGTTCTTTTGTTTGTTGTTTTGCTTTTTCGATCAAGGAGTTGCTTGGTCTCACTTTAAGGAAGAGTGAATTTCCCTTATAGTAGATGTGTTAGCTCTGTCCCTATAAGAGCATGATGTGAGAGAGCCTTTAGAAGAGACGTGTTGTTTTAAAACTGGGAGATTCAGCTGTCCATAAGACAGACATTAATATCCCGAATGCACTTACTAGAAGAGGTTTATT... | pathogenic | 312,592 |
Variant in gene ASXL1 (ASXL transcriptional regulator 1), located at chromosome 20 position 32434638: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['ASXL1-related_disorder', 'Abnormal_brain_morphology', 'Bohring-Opitz_syndrome'] | AGAGTAAACAATCAGGCCTACCTACTATGTTAACTTTTTATCTACACAGGAAATATGAATGGTTCTTTTGTTTGTTGTTTTGCTTTTTCGATCAAGGAGTTGCTTGGTCTCACTTTAAGGAAGAGTGAATTTCCCTTATAGTAGATGTGTTAGCTCTGTCCCTATAAGAGCATGATGTGAGAGAGCCTTTAGAAGAGACGTGTTGTTTTAAAACTGGGAGATTCAGCTGTCCATAAGACAGACATTAATATCCCGAATGCACTTACTAGAAGAGGTTTATTTCTCCCTAGGTGAATTTACTCATGAGATGCAAGTCAGGA... | AGAGTAAACAATCAGGCCTACCTACTATGTTAACTTTTTATCTACACAGGAAATATGAATGGTTCTTTTGTTTGTTGTTTTGCTTTTTCGATCAAGGAGTTGCTTGGTCTCACTTTAAGGAAGAGTGAATTTCCCTTATAGTAGATGTGTTAGCTCTGTCCCTATAAGAGCATGATGTGAGAGAGCCTTTAGAAGAGACGTGTTGTTTTAAAACTGGGAGATTCAGCTGTCCATAAGACAGACATTAATATCCCGAATGCACTTACTAGAAGAGGTTTATTTCTCCCTAGGTGAATTTACTCATGAGATGCAAGTCAGGA... | pathogenic | 312,599 |
Gene mutation in ASXL1 (ASXL transcriptional regulator 1) at chromosome 20, position 32436344—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['ASXL1-related_disorder'] | GATTTCATTGTTTTAAGGAAATTATTTGATTCTGTATGCCATGACCCTTAAGCTACTAGAATCCTAGTTTTGCTTTACAGTCCCTAGGTCAGATCACCCAGTCAGTTAAAACTATTTTCTAATTCTTTTTTTGCAGATTCAACTTTCACGTATCAAACCACCCTGGGTGGTTAAAGGTCAGCCCACTTACCAGATATGCCCCCGGATCATCCCCACCACGGAGTCCTCCTGCCGGGGTTGGACTGGCGCCAGGACCCTCGCAGACATTAAAGCCCGTGCTCTGCAGGTCCGAGGGGCGAGAGGTCACCACTGCCATAGAG... | GATTTCATTGTTTTAAGGAAATTATTTGATTCTGTATGCCATGACCCTTAAGCTACTAGAATCCTAGTTTTGCTTTACAGTCCCTAGGTCAGATCACCCAGTCAGTTAAAACTATTTTCTAATTCTTTTTTTGCAGATTCAACTTTCACGTATCAAACCACCCTGGGTGGTTAAAGGTCAGCCCACTTACCAGATATGCCCCCGGATCATCCCCACCACGGAGTCCTCCTGCCGGGGTTGGACTGGCGCCAGGACCCTCGCAGACATTAAAGCCCGTGCTCTGCAGGTCCGAGGGGCGAGAGGTCACCACTGCCATAGAG... | pathogenic | 312,699 |
The genetic variant at chromosome 20, position 32436833, affecting gene ASXL1 (ASXL transcriptional regulator 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Bohring-Opitz_syndrome', 'Inborn_genetic_diseases', 'Myelodysplastic_syndrome'] | ACAGCGAACACAACTACTGCCGCCTTATCCTCTAAATGGGGAGCATACCCAGGCCGGAACTGCCATGTCCAGAGCTAGGAGAGAGGACCTGCCTTCTCTGAGAAAGGAGGAAAGCTGCCTACTACAGAGGGCTACAGTTGGACTCACAGATGGGCTAGGAGATGCCTCCCAACTCCCCGTTGCTCCCACTGGGGACCAGCCATGCCAGGCCTTGCCCCTACTGTCCTCCCAAACCTCAGTAGCTGAGAGATTAGTGGAGCAGCCTCAGTTGCATCCGGATGTTAGAACTGAATGTGAGTCTGGCACCACTTCCTGGGAAA... | ACAGCGAACACAACTACTGCCGCCTTATCCTCTAAATGGGGAGCATACCCAGGCCGGAACTGCCATGTCCAGAGCTAGGAGAGAGGACCTGCCTTCTCTGAGAAAGGAGGAAAGCTGCCTACTACAGAGGGCTACAGTTGGACTCACAGATGGGCTAGGAGATGCCTCCCAACTCCCCGTTGCTCCCACTGGGGACCAGCCATGCCAGGCCTTGCCCCTACTGTCCTCCCAAACCTCAGTAGCTGAGAGATTAGTGGAGCAGCCTCAGTTGCATCCGGATGTTAGAACTGAATGTGAGTCTGGCACCACTTCCTGGGAAA... | pathogenic | 312,727 |
A mutation at chromosome position 33408504 on chromosome 20 in gene SNTA1 (syntrophin alpha 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TTACAAGTGCACACCACCATATCTGGCTAATTTGTTGTTGTTGTTGTTTGTTTTGTTTGTTTTTTTGAGACCGAGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCCGCGATCTCAGCTCACCGCAACCTTCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCAGGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGCAACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAGAGTGCTGGG... | TTACAAGTGCACACCACCATATCTGGCTAATTTGTTGTTGTTGTTGTTTGTTTTGTTTGTTTTTTTGAGACCGAGTCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCCGCGATCTCAGCTCACCGCAACCTTCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCAGGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGCAACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAGAGTGCTGGG... | benign | 312,807 |
Variant chromosome 20, position 33408682, gene SNTA1 (syntrophin alpha 1): benign or pathogenic? Disease(s)? | benign | AGCTGGGATTACAGGCAGGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGCAACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCATCACACCAGGCACATCATCTTTGTTTTATCTTGTCGCTACATTAAAGAAACTGAACCTTTCAAAAGTTTAAAAAAAAAAAAGTTCTGGGCTTGGCACGGTGTCCTAGCACTTTGGGAAGCTGATGCAGGAGGATCACTTGAGGTCAGGAGTTTAAAACCAG... | AGCTGGGATTACAGGCAGGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGCAACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCATCACACCAGGCACATCATCTTTGTTTTATCTTGTCGCTACATTAAAGAAACTGAACCTTTCAAAAGTTTAAAAAAAAAAAAGTTCTGGGCTTGGCACGGTGTCCTAGCACTTTGGGAAGCTGATGCAGGAGGATCACTTGAGGTCAGGAGTTTAAAACCAG... | benign | 312,816 |
Is the variant located on chromosome 20 at position 33443283, gene SNTA1 (syntrophin alpha 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CCTTGTCCAAGGTCACTCCACTAGTAAGTAGCGAAGCCAGTATTTGCACCTAGGCCTCCAGGCTCCAGAACCAACACTATTAGCCCTACCACAGACGACAAGTCAGGCCCTCAGATATCACACTCCTGGCTCATCCCCAGAATACTGAAGATGAAGAATTAGTGGCCCAGAGTGGGAGGTCATTGTTCCAAGGTCACACAAGTCTGGTGGCGGAGCTGGGACTGGAACACCTCTCTTGACGCCCACACAGGCCCGACCGTTTGCTTATCTGCACAGAGCTTGAAGTCTAGGAGAGGAAGGGGTTTCTATTTATATCTGCC... | CCTTGTCCAAGGTCACTCCACTAGTAAGTAGCGAAGCCAGTATTTGCACCTAGGCCTCCAGGCTCCAGAACCAACACTATTAGCCCTACCACAGACGACAAGTCAGGCCCTCAGATATCACACTCCTGGCTCATCCCCAGAATACTGAAGATGAAGAATTAGTGGCCCAGAGTGGGAGGTCATTGTTCCAAGGTCACACAAGTCTGGTGGCGGAGCTGGGACTGGAACACCTCTCTTGACGCCCACACAGGCCCGACCGTTTGCTTATCTGCACAGAGCTTGAAGTCTAGGAGAGGAAGGGGTTTCTATTTATATCTGCC... | benign | 312,860 |
Evaluate if the mutation on chromosome 20 at position 34413796 in ITCH (itchy E3 ubiquitin protein ligase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Syndromic_multisystem_autoimmune_disease_due_to_ITCH_deficiency'] | TGGTAGATTATATAGTGCTCCTAGCTTTCTGATCCTTGACTCTAACATTGATTCTACGTGTATTGCAAATTCAAATTTCCCAGTTTACTTTGGAAATACCATTATAGAGAGTATTCCTTATTGGCATTTAGCAAGGAATGAGTGAGTCTATATTTGATAGTTGGACTGGGCAACTTGCCTCTAGCAGTGTGAAACTTGATGTATGTAATGTAATCTTCAAATCATGTAGCTGACGTGAGGAACTTTTTAATATAAAGTTTAATGTCAGGATTTTATTCACATTACAGTTCTGCTACTTACTGGCTATTTGACCTTAGGCA... | TGGTAGATTATATAGTGCTCCTAGCTTTCTGATCCTTGACTCTAACATTGATTCTACGTGTATTGCAAATTCAAATTTCCCAGTTTACTTTGGAAATACCATTATAGAGAGTATTCCTTATTGGCATTTAGCAAGGAATGAGTGAGTCTATATTTGATAGTTGGACTGGGCAACTTGCCTCTAGCAGTGTGAAACTTGATGTATGTAATGTAATCTTCAAATCATGTAGCTGACGTGAGGAACTTTTTAATATAAAGTTTAATGTCAGGATTTTATTCACATTACAGTTCTGCTACTTACTGGCTATTTGACCTTAGGCA... | pathogenic | 312,957 |
Is the genetic change at chromosome 20, position 34929557, within gene GSS (glutathione synthetase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glutathione_synthetase_deficiency_with_5-oxoprolinuria', 'Glutathione_synthetase_deficiency_without_5-oxoprolinuria'] | GATGTGAGGGCCTCCACTGAAGCAGGGAGGCAGCTGTGTAATCCTATGTCAGCTCTCTTAGGAAGCCCCAGTACTTATATTGGGCATGCACTTGCCCTTAAAAACAATGATTTGTGAGTCCAGGAACAATTTACTATTTTTAAAATATTTTGCTGCTTCTGTTCTGGGTCTGAATTCCCTTTTGTGCCAGATGCCAGTACTGTCTGCCCATTGGCTCCAGGGGCTGTATGGGCAGATTCAGTCTCCAGAGGGTATTCAGATCATCTGCTTCTTTGAAGGAGTAAATGTGTTTTGTTCCTAGGGCCAGAGGAGCTTGTCTT... | GATGTGAGGGCCTCCACTGAAGCAGGGAGGCAGCTGTGTAATCCTATGTCAGCTCTCTTAGGAAGCCCCAGTACTTATATTGGGCATGCACTTGCCCTTAAAAACAATGATTTGTGAGTCCAGGAACAATTTACTATTTTTAAAATATTTTGCTGCTTCTGTTCTGGGTCTGAATTCCCTTTTGTGCCAGATGCCAGTACTGTCTGCCCATTGGCTCCAGGGGCTGTATGGGCAGATTCAGTCTCCAGAGGGTATTCAGATCATCTGCTTCTTTGAAGGAGTAAATGTGTTTTGTTCCTAGGGCCAGAGGAGCTTGTCTT... | pathogenic | 312,996 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 34941746, gene GSS (glutathione synthetase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Glutathione_synthetase_deficiency_with_5-oxoprolinuria', 'Glutathione_synthetase_deficiency_without_5-oxoprolinuria'] | CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGGGTGATCTTGGCCACTGCAACTTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCATCCCAAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCTGATGATCCACCCGCCTCGGTCTCCCAAAGTGCTGGGATTAGAGGTGTGAGCCACTGCACCCGGCCTATTATTATTATTGAAAGTACCACATAATGATCCACACAGATTTTTAA... | CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGGGTGATCTTGGCCACTGCAACTTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCATCCCAAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCTGATGATCCACCCGCCTCGGTCTCCCAAAGTGCTGGGATTAGAGGTGTGAGCCACTGCACCCGGCCTATTATTATTATTGAAAGTACCACATAATGATCCACACAGATTTTTAA... | pathogenic | 313,010 |
Determine if the mutation at chromosome 20, position 34945932 in gene GSS (glutathione synthetase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GAAGTCTCAACAAGAGCCACAGTAAGAAGGAATCCACAGGTGATTAACATCACACTTACTGCCCTTTGAGATTCAGGGTGGATTCTGCACACCTGCTCAAGCCTGAATCACCTTGTTACAGAAACGTCACAGCAGACCAGTGGGGGGAAGCCAAGTAGCCCAGGCCTGCCCTGAAGTTCCTCTGCTCCTCAGCCAGCTCTCTCCCAAGGGTGAGCTCTCTCATGCCAGCCCTTGGTTAGGAGGAGAGTCCCAGCTGGGCTTCAGCCTCCAAGGAAGTTGAGACACACTTTCCTTTTTCTGAAGAGGTGCTCCCCTTCATG... | GAAGTCTCAACAAGAGCCACAGTAAGAAGGAATCCACAGGTGATTAACATCACACTTACTGCCCTTTGAGATTCAGGGTGGATTCTGCACACCTGCTCAAGCCTGAATCACCTTGTTACAGAAACGTCACAGCAGACCAGTGGGGGGAAGCCAAGTAGCCCAGGCCTGCCCTGAAGTTCCTCTGCTCCTCAGCCAGCTCTCTCCCAAGGGTGAGCTCTCTCATGCCAGCCCTTGGTTAGGAGGAGAGTCCCAGCTGGGCTTCAGCCTCCAAGGAAGTTGAGACACACTTTCCTTTTTCTGAAGAGGTGCTCCCCTTCATG... | benign | 313,024 |
Classify the chromosome 20 variant at position 34945945 affecting gene GSS (glutathione synthetase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GAGCCACAGTAAGAAGGAATCCACAGGTGATTAACATCACACTTACTGCCCTTTGAGATTCAGGGTGGATTCTGCACACCTGCTCAAGCCTGAATCACCTTGTTACAGAAACGTCACAGCAGACCAGTGGGGGGAAGCCAAGTAGCCCAGGCCTGCCCTGAAGTTCCTCTGCTCCTCAGCCAGCTCTCTCCCAAGGGTGAGCTCTCTCATGCCAGCCCTTGGTTAGGAGGAGAGTCCCAGCTGGGCTTCAGCCTCCAAGGAAGTTGAGACACACTTTCCTTTTTCTGAAGAGGTGCTCCCCTTCATGTTTTGTAGGGGGC... | GAGCCACAGTAAGAAGGAATCCACAGGTGATTAACATCACACTTACTGCCCTTTGAGATTCAGGGTGGATTCTGCACACCTGCTCAAGCCTGAATCACCTTGTTACAGAAACGTCACAGCAGACCAGTGGGGGGAAGCCAAGTAGCCCAGGCCTGCCCTGAAGTTCCTCTGCTCCTCAGCCAGCTCTCTCCCAAGGGTGAGCTCTCTCATGCCAGCCCTTGGTTAGGAGGAGAGTCCCAGCTGGGCTTCAGCCTCCAAGGAAGTTGAGACACACTTTCCTTTTTCTGAAGAGGTGCTCCCCTTCATGTTTTGTAGGGGGC... | benign | 313,027 |
Chromosome 20, position 34951714, gene GSS (glutathione synthetase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TTACCATTTAAATAACCTCAGGTAGGTTACTTAGCCTCTCTGGGCTTCGGTTTCCTTATCTCTGTTGTGGTGAGGAGTCAGTGATTCCAAAGTGTTTAGAATAATGCCTGGCACATACTAAATACTCAATAAATGATAGTTAACTTTGTGTAGCAGACTGCCTGTGTTTCCTCATAGAGCTGATGTTATTTAATTTTGTTTTGTGGTATGTTCTCTAACTAGACCAGGAGCCCCAGAGGCTAGGGCTCTGGCTGACTCACCTCTCTGTCCTCAGTGCCTACAATGGCCCGGCATAGAGCAGGCATTTGGTAAAGATTTGG... | TTACCATTTAAATAACCTCAGGTAGGTTACTTAGCCTCTCTGGGCTTCGGTTTCCTTATCTCTGTTGTGGTGAGGAGTCAGTGATTCCAAAGTGTTTAGAATAATGCCTGGCACATACTAAATACTCAATAAATGATAGTTAACTTTGTGTAGCAGACTGCCTGTGTTTCCTCATAGAGCTGATGTTATTTAATTTTGTTTTGTGGTATGTTCTCTAACTAGACCAGGAGCCCCAGAGGCTAGGGCTCTGGCTGACTCACCTCTCTGTCCTCAGTGCCTACAATGGCCCGGCATAGAGCAGGCATTTGGTAAAGATTTGG... | benign | 313,031 |
Chromosome 20, position 34951848, gene GSS (glutathione synthetase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Glutathione_synthetase_deficiency_with_5-oxoprolinuria', 'Glutathione_synthetase_deficiency_without_5-oxoprolinuria', 'Inherited_glutathione_synthetase_deficiency'] | GATAGTTAACTTTGTGTAGCAGACTGCCTGTGTTTCCTCATAGAGCTGATGTTATTTAATTTTGTTTTGTGGTATGTTCTCTAACTAGACCAGGAGCCCCAGAGGCTAGGGCTCTGGCTGACTCACCTCTCTGTCCTCAGTGCCTACAATGGCCCGGCATAGAGCAGGCATTTGGTAAAGATTTGGAGTAAAATCATTCTCTCTCTCTCTCTCTCACACACACACACACACACACATACACACACACGTACACTTTCTGACTTTTTTTCTGGATTAGAAATCTCATTGTGGATTACGCCTTTTCTAGGCTCCATAACCTC... | GATAGTTAACTTTGTGTAGCAGACTGCCTGTGTTTCCTCATAGAGCTGATGTTATTTAATTTTGTTTTGTGGTATGTTCTCTAACTAGACCAGGAGCCCCAGAGGCTAGGGCTCTGGCTGACTCACCTCTCTGTCCTCAGTGCCTACAATGGCCCGGCATAGAGCAGGCATTTGGTAAAGATTTGGAGTAAAATCATTCTCTCTCTCTCTCTCTCACACACACACACACACACACATACACACACACGTACACTTTCTGACTTTTTTTCTGGATTAGAAATCTCATTGTGGATTACGCCTTTTCTAGGCTCCATAACCTC... | pathogenic | 313,034 |
The mutation impacting GDF5 on chromosome 20 at position 35434270: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Grebe_syndrome'] | AAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGC... | AAGGAGGCAGCTCAAAGGTAGGCTGCCCCCGCACTGTGCCCAAGCTTCAGGCCTAGAGGGAAAGGGCACAAGGTCTGCCCATAGCTGGGTAGGAATCCCTACTGTTGAAGCAGCTTTGGTGAGGAGCCCCAGGAATCAAAGACCCAGCTGGAGGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGC... | pathogenic | 313,103 |
Gene mutation in GDF5 at chromosome 20, position 35434422—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Brachydactyly_type_C'] | GGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCCCAAAGATTCCAGCTGAGAAAAGGAAGTGAGCATTTACTCTGGGCCAAGCCCCAAGCAGGAAACATTGTCAGGGTGTGCCTGGCATTTGTCTGTCTGAGGTTAGTGGGGAGTTTATTTATCTGATGTATAATTATGTATTT... | GGGAGGTAGGGGAAATGTTGAAGCCCCCTGGGTGGGAAGTGGAGGCTTAGACTGCTCCTGGTTCTCCCTGTGTCTATTCTGCCAGGTAGAACTGGAGTCCTCAGCCCAAGGCACCCATATGCCTGTCTCCCCACCAGAGGGCTATGTTCCCCTCCCAAAAGTCTGTGCCCTGTGCCTCCCCAAAGATTCCAGCTGAGAAAAGGAAGTGAGCATTTACTCTGGGCCAAGCCCCAAGCAGGAAACATTGTCAGGGTGTGCCTGGCATTTGTCTGTCTGAGGTTAGTGGGGAGTTTATTTATCTGATGTATAATTATGTATTT... | pathogenic | 313,109 |
Is the chromosome 20, position 35434604 variant in GDF5 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Acromesomelic_dysplasia_2B', 'Acromesomelic_dysplasia_2C,_Hunter-Thompson_type', 'Brachydactyly_type_A1C', 'Brachydactyly_type_C', 'Grebe_syndrome', 'Multiple_synostoses_syndrome_2', 'Osteoarthritis_susceptibility_5', 'Symphalangism,_proximal,_1B', 'Type_A2_brachydactyly'] | AAGATTCCAGCTGAGAAAAGGAAGTGAGCATTTACTCTGGGCCAAGCCCCAAGCAGGAAACATTGTCAGGGTGTGCCTGGCATTTGTCTGTCTGAGGTTAGTGGGGAGTTTATTTATCTGATGTATAATTATGTATTTATATAATGTGTAATATAAAGGCAGGGGACTCCGATTCTGTTTCTGGAGCTGGGGGCTGATGGGTGAGCAGTGAGGTGTAGTGAGGGTGTCAAGCTGGAGGGCAACAGGGCCACAGACATGGTCATGTGAGGAACAGTGGTCAGTGGCGAGAGGAGATGCCCCAACAGGGAGAAGGAGAGCCT... | AAGATTCCAGCTGAGAAAAGGAAGTGAGCATTTACTCTGGGCCAAGCCCCAAGCAGGAAACATTGTCAGGGTGTGCCTGGCATTTGTCTGTCTGAGGTTAGTGGGGAGTTTATTTATCTGATGTATAATTATGTATTTATATAATGTGTAATATAAAGGCAGGGGACTCCGATTCTGTTTCTGGAGCTGGGGGCTGATGGGTGAGCAGTGAGGTGTAGTGAGGGTGTCAAGCTGGAGGGCAACAGGGCCACAGACATGGTCATGTGAGGAACAGTGGTCAGTGGCGAGAGGAGATGCCCCAACAGGGAGAAGGAGAGCCT... | pathogenic | 313,116 |
Assess the variant on chromosome 20, position 35437770, impacting GDF5 (growth differentiation factor 5): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Type_A2_brachydactyly'] | TTTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGTGTGTGTGAGTCAGCATGCATGTACATGTGTGATTCAGCATGTGTGTATAA... | TTTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGTGTGTGTGAGTCAGCATGCATGTACATGTGTGATTCAGCATGTGTGTATAA... | pathogenic | 313,125 |
Does the genetic variant at chromosome 20, position 35437771, impacting gene GDF5 (growth differentiation factor 5), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['GDF5-related_disorder'] | TTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGTGTGTGTGAGTCAGCATGCATGTACATGTGTGATTCAGCATGTGTGTATAAA... | TTTGTTGCCTATGTGTCTTACTCTCCTGAGCATGTGTGTGTGTTACAGTTGTATGCATGTGTGTGATTGGGTTCATATGTGAATATGAAAGAGTGTATACGTTAATGACGCATTATATGTATAAATGATTGGGCTTGTGTGACTATTTGAAGAGCACATATATGTCTGTATATGCATGATTGATCTTGTGTGTGTATGTAAGAAGGTGTGTGTGCACATGCATATGTGTGTGATTCGGCATGTGTGTACGTGTGTGATTCAGCACGTGTGTGTGTGAGTCAGCATGCATGTACATGTGTGATTCAGCATGTGTGTATAAA... | pathogenic | 313,126 |
Does the chromosome 20 mutation at position 35490694 within gene CEP250 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['CEP250-related_disorder'] | TAGATAAGGGGTTTCACCATGTTGCCTAGGCTGGTCTCAAACTCTTGGGCTCAAGTGATCATCCTACCTCGGCCTCGCAAAATGTTGGGATAATATATGTGAACTACCACGTCCAGCCAGACCACTGTCAATTGTATGGTCTGGGAAGGCTTCACCAAGGAAGTGTTAGTTTAGGCGTGAGGAATGATGGAGTAGGGGGGAGAAGGGCTTTCCAGGTAGAAGGAAGCATGAGTAAAGGCTCTAAGGCATGAACATGTTGGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCTAAGCGGGCAGATC... | TAGATAAGGGGTTTCACCATGTTGCCTAGGCTGGTCTCAAACTCTTGGGCTCAAGTGATCATCCTACCTCGGCCTCGCAAAATGTTGGGATAATATATGTGAACTACCACGTCCAGCCAGACCACTGTCAATTGTATGGTCTGGGAAGGCTTCACCAAGGAAGTGTTAGTTTAGGCGTGAGGAATGATGGAGTAGGGGGGAGAAGGGCTTTCCAGGTAGAAGGAAGCATGAGTAAAGGCTCTAAGGCATGAACATGTTGGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCTAAGCGGGCAGATC... | pathogenic | 313,148 |
For chromosome 20, position 35490700, gene CEP250: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cone-rod_dystrophy_and_hearing_loss_2'] | AGGGGTTTCACCATGTTGCCTAGGCTGGTCTCAAACTCTTGGGCTCAAGTGATCATCCTACCTCGGCCTCGCAAAATGTTGGGATAATATATGTGAACTACCACGTCCAGCCAGACCACTGTCAATTGTATGGTCTGGGAAGGCTTCACCAAGGAAGTGTTAGTTTAGGCGTGAGGAATGATGGAGTAGGGGGGAGAAGGGCTTTCCAGGTAGAAGGAAGCATGAGTAAAGGCTCTAAGGCATGAACATGTTGGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCTAAGCGGGCAGATCACTTGA... | AGGGGTTTCACCATGTTGCCTAGGCTGGTCTCAAACTCTTGGGCTCAAGTGATCATCCTACCTCGGCCTCGCAAAATGTTGGGATAATATATGTGAACTACCACGTCCAGCCAGACCACTGTCAATTGTATGGTCTGGGAAGGCTTCACCAAGGAAGTGTTAGTTTAGGCGTGAGGAATGATGGAGTAGGGGGGAGAAGGGCTTTCCAGGTAGAAGGAAGCATGAGTAAAGGCTCTAAGGCATGAACATGTTGGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCTAAGCGGGCAGATCACTTGA... | pathogenic | 313,149 |
Located at chromosome 20 position 35502641, the variant affecting gene CEP250 (centrosomal protein 250)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cone-rod_dystrophy_and_hearing_loss_2'] | CCAGGCAGCGCTGGGGCTGGCAGCAGCAGGGAGTGCTTGAACTCCTGGCCTCAAGTGATCCGCCTGCCTCGACCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCTGCACTGCATTATTTACCCAGAAATGTGAGGTGAGATCTAGATGCACTTCCAAAGGGGTGCTGACCACCTTGAACTATTTTTTCAGCTTTGCTTGGCCTTTGAGGCCCATCCTGGAAGAAGAGATTAGGAGGAACAGATTTGATGAACTGAAAGAAGGAAATGGCTGGGCTTCCATTTTCTGTCTCTGTAGATTTAAAAATTA... | CCAGGCAGCGCTGGGGCTGGCAGCAGCAGGGAGTGCTTGAACTCCTGGCCTCAAGTGATCCGCCTGCCTCGACCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCTGCACTGCATTATTTACCCAGAAATGTGAGGTGAGATCTAGATGCACTTCCAAAGGGGTGCTGACCACCTTGAACTATTTTTTCAGCTTTGCTTGGCCTTTGAGGCCCATCCTGGAAGAAGAGATTAGGAGGAACAGATTTGATGAACTGAAAGAAGGAAATGGCTGGGCTTCCATTTTCTGTCTCTGTAGATTTAAAAATTA... | pathogenic | 313,170 |
Assess the variant on chromosome 20, position 36904183, impacting SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Aicardi-Goutieres_syndrome_5', 'Aicardi_Goutieres_syndrome', 'Chilblain_lupus_2'] | GAGTTCTGAGAGGAGGGAGGACAGTTTGAAATGATGATGATGATTATTAGTAGTAGTATTTTTTGAGATGAGGGTCTTGCTCTGTTGCCCAGGCTGGAGAGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTTGAGTAGCTGAGATTATCAGCACCCACCACCATCCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCGTCCGCCTCGGCCTCCCAAAGTGCTGGGAT... | GAGTTCTGAGAGGAGGGAGGACAGTTTGAAATGATGATGATGATTATTAGTAGTAGTATTTTTTGAGATGAGGGTCTTGCTCTGTTGCCCAGGCTGGAGAGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTTGAGTAGCTGAGATTATCAGCACCCACCACCATCCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCGTCCGCCTCGGCCTCCCAAAGTGCTGGGAT... | pathogenic | 313,273 |
Located at chromosome 20 position 36904223, the variant affecting gene SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Aicardi-Goutieres_syndrome_5', 'Aicardi_Goutieres_syndrome', 'Chilblain_lupus_2'] | TGATTATTAGTAGTAGTATTTTTTGAGATGAGGGTCTTGCTCTGTTGCCCAGGCTGGAGAGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTTGAGTAGCTGAGATTATCAGCACCCACCACCATCCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCGTCCGCCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCTGGACTGAAATGATTATT... | TGATTATTAGTAGTAGTATTTTTTGAGATGAGGGTCTTGCTCTGTTGCCCAGGCTGGAGAGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTTGAGTAGCTGAGATTATCAGCACCCACCACCATCCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCGTCCGCCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCTGGACTGAAATGATTATT... | pathogenic | 313,274 |
Does the chromosome 20 mutation at position 36916956 within gene SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Aicardi-Goutieres_syndrome_5', 'Chilblain_lupus_2'] | AAGCTGAAGTGGGAGATTTGCTTGAGCTGGGAAGGTGGAGGTTGCAGTGATCTGAGATCGCACCACTACACTCCAATCTGGGTGACAGAGTAAGATCCTGTATCCAAAAAGAAAAAAAAGAATATGGTATATGATACACGTAACATTCAAAATAGGCTGGATGCAGTGGCTCACACCTATAATCATAGCACTTTAGGAGACTGAGGTGGATGGGTTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACAGTGAAACTCCACCTCTGTAAAATAAATTTCAGAATTAGCCAAGCATAGGCCTGTAGTCCCAGCTA... | AAGCTGAAGTGGGAGATTTGCTTGAGCTGGGAAGGTGGAGGTTGCAGTGATCTGAGATCGCACCACTACACTCCAATCTGGGTGACAGAGTAAGATCCTGTATCCAAAAAGAAAAAAAAGAATATGGTATATGATACACGTAACATTCAAAATAGGCTGGATGCAGTGGCTCACACCTATAATCATAGCACTTTAGGAGACTGAGGTGGATGGGTTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACAGTGAAACTCCACCTCTGTAAAATAAATTTCAGAATTAGCCAAGCATAGGCCTGTAGTCCCAGCTA... | pathogenic | 313,280 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 36927204, gene SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Aicardi-Goutieres_syndrome_5', 'Chilblain_lupus_2'] | AAAAAAAAAAAAAAAGAAAAAAAAAGATTTCTCCCATATACTTACACAAAAATAAATTGTACACGAGCTAAGGATTTAAATGTGAAAGGCAAAATGCTTAAAGGAATAGATTTGGTAATGATTGAGAAGATCCTATTAGATCAACTGCAGAAGAAAACAACTATAAGCTCTGGACAACTCCCTGAAGGTCCTGGAGAGAGACCAAAACCAAGTGGATGTTAGACCTCAATACTTAGAAGGGAGAGGTGCTGGGTGACATTCCGGTTTTATGGTTTTTTGCCTAAGGGCAGGCCCCAGGACAGAAAAACTGGTGAGAAACT... | AAAAAAAAAAAAAAAGAAAAAAAAAGATTTCTCCCATATACTTACACAAAAATAAATTGTACACGAGCTAAGGATTTAAATGTGAAAGGCAAAATGCTTAAAGGAATAGATTTGGTAATGATTGAGAAGATCCTATTAGATCAACTGCAGAAGAAAACAACTATAAGCTCTGGACAACTCCCTGAAGGTCCTGGAGAGAGACCAAAACCAAGTGGATGTTAGACCTCAATACTTAGAAGGGAGAGGTGCTGGGTGACATTCCGGTTTTATGGTTTTTTGCCTAAGGGCAGGCCCCAGGACAGAAAAACTGGTGAGAAACT... | pathogenic | 313,284 |
Variant on chromosome 20, at position 36927228, affecting SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Aicardi-Goutieres_syndrome_5'] | AGATTTCTCCCATATACTTACACAAAAATAAATTGTACACGAGCTAAGGATTTAAATGTGAAAGGCAAAATGCTTAAAGGAATAGATTTGGTAATGATTGAGAAGATCCTATTAGATCAACTGCAGAAGAAAACAACTATAAGCTCTGGACAACTCCCTGAAGGTCCTGGAGAGAGACCAAAACCAAGTGGATGTTAGACCTCAATACTTAGAAGGGAGAGGTGCTGGGTGACATTCCGGTTTTATGGTTTTTTGCCTAAGGGCAGGCCCCAGGACAGAAAAACTGGTGAGAAACTACCCATTTTACTGGCTTGCAGAAC... | AGATTTCTCCCATATACTTACACAAAAATAAATTGTACACGAGCTAAGGATTTAAATGTGAAAGGCAAAATGCTTAAAGGAATAGATTTGGTAATGATTGAGAAGATCCTATTAGATCAACTGCAGAAGAAAACAACTATAAGCTCTGGACAACTCCCTGAAGGTCCTGGAGAGAGACCAAAACCAAGTGGATGTTAGACCTCAATACTTAGAAGGGAGAGGTGCTGGGTGACATTCCGGTTTTATGGTTTTTTGCCTAAGGGCAGGCCCCAGGACAGAAAAACTGGTGAGAAACTACCCATTTTACTGGCTTGCAGAAC... | pathogenic | 313,286 |
Determine whether the variant at chromosome 20, position 36927230, in gene SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Aicardi-Goutieres_syndrome_5', 'Chilblain_lupus_2'] | ATTTCTCCCATATACTTACACAAAAATAAATTGTACACGAGCTAAGGATTTAAATGTGAAAGGCAAAATGCTTAAAGGAATAGATTTGGTAATGATTGAGAAGATCCTATTAGATCAACTGCAGAAGAAAACAACTATAAGCTCTGGACAACTCCCTGAAGGTCCTGGAGAGAGACCAAAACCAAGTGGATGTTAGACCTCAATACTTAGAAGGGAGAGGTGCTGGGTGACATTCCGGTTTTATGGTTTTTTGCCTAAGGGCAGGCCCCAGGACAGAAAAACTGGTGAGAAACTACCCATTTTACTGGCTTGCAGAACCA... | ATTTCTCCCATATACTTACACAAAAATAAATTGTACACGAGCTAAGGATTTAAATGTGAAAGGCAAAATGCTTAAAGGAATAGATTTGGTAATGATTGAGAAGATCCTATTAGATCAACTGCAGAAGAAAACAACTATAAGCTCTGGACAACTCCCTGAAGGTCCTGGAGAGAGACCAAAACCAAGTGGATGTTAGACCTCAATACTTAGAAGGGAGAGGTGCTGGGTGACATTCCGGTTTTATGGTTTTTTGCCTAAGGGCAGGCCCCAGGACAGAAAAACTGGTGAGAAACTACCCATTTTACTGGCTTGCAGAACCA... | pathogenic | 313,287 |
Chromosome 20, position 36927314, gene SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTTGGTAATGATTGAGAAGATCCTATTAGATCAACTGCAGAAGAAAACAACTATAAGCTCTGGACAACTCCCTGAAGGTCCTGGAGAGAGACCAAAACCAAGTGGATGTTAGACCTCAATACTTAGAAGGGAGAGGTGCTGGGTGACATTCCGGTTTTATGGTTTTTTGCCTAAGGGCAGGCCCCAGGACAGAAAAACTGGTGAGAAACTACCCATTTTACTGGCTTGCAGAACCAGAGTACTTCATCAAAATTGAAAACGTCTGTTTTTCAAAAGGCACCATGAAAAAATGAATTGGCCAAGCCAGACACTGGGGAAAA... | TTTGGTAATGATTGAGAAGATCCTATTAGATCAACTGCAGAAGAAAACAACTATAAGCTCTGGACAACTCCCTGAAGGTCCTGGAGAGAGACCAAAACCAAGTGGATGTTAGACCTCAATACTTAGAAGGGAGAGGTGCTGGGTGACATTCCGGTTTTATGGTTTTTTGCCTAAGGGCAGGCCCCAGGACAGAAAAACTGGTGAGAAACTACCCATTTTACTGGCTTGCAGAACCAGAGTACTTCATCAAAATTGAAAACGTCTGTTTTTCAAAAGGCACCATGAAAAAATGAATTGGCCAAGCCAGACACTGGGGAAAA... | benign | 313,289 |
Is the variant located on chromosome 20 at position 36930807, gene SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Aicardi-Goutieres_syndrome_5'] | AAAAAAATCTATCTTTGGCCGGGTGTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATGGTGAAACCTCATCTCTACTAAAACTATAATAATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTACCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTGAAAAAAAAAAAAAAAGAAGTGA... | AAAAAAATCTATCTTTGGCCGGGTGTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATGGTGAAACCTCATCTCTACTAAAACTATAATAATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTACCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTGAAAAAAAAAAAAAAAGAAGTGA... | pathogenic | 313,292 |
Benign or pathogenic: chromosome 20, position 36935183, gene SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1) variant? Disease(s) if pathogenic? | pathogenic; ['Aicardi-Goutieres_syndrome_5', 'Inborn_genetic_diseases'] | GAGTATAGACACATGTTGTGCCTAACTAAAAATGCTTCTACACAAACAGAAAACCAAAGTAATATACTGTGAGTACTTCATGAAAATCTCAAAGACTGTCTATTCTTCCCTGTCCACTTCCTCCTGGCTCTACACTGCATAATGGAAATGCAGACCAACGTCTCAGCTTAGTTGTATGTAACAGAGGCATCGCCTTCTCTAAGATTATGAATGCTTTTTTAACTTACGCATTTCCTGACAGGTAAGAAAATGATCTGGTTTGAAAGAGCAACTCTGTACCAGAGTAAATAGAGAATACAGAAAAATTAAATAATCAAATA... | GAGTATAGACACATGTTGTGCCTAACTAAAAATGCTTCTACACAAACAGAAAACCAAAGTAATATACTGTGAGTACTTCATGAAAATCTCAAAGACTGTCTATTCTTCCCTGTCCACTTCCTCCTGGCTCTACACTGCATAATGGAAATGCAGACCAACGTCTCAGCTTAGTTGTATGTAACAGAGGCATCGCCTTCTCTAAGATTATGAATGCTTTTTTAACTTACGCATTTCCTGACAGGTAAGAAAATGATCTGGTTTGAAAGAGCAACTCTGTACCAGAGTAAATAGAGAATACAGAAAAATTAAATAATCAAATA... | pathogenic | 313,299 |
Located at chromosome 20 position 43620839, the variant affecting gene IFT52 (intraflagellar transport 52)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GTATTTCTAAACTTTAAAATCTGGGTGTGAATTGGCACTCTTCAGTATATAAGACAGTTGCTAGCATGATTCTAATAAGTGTCTGGGTACTAGGATACATGAGATGCACTTTCGGATTTGAGTATCTGACCCTGCTTTGTCATCAATAGAACCAAGGTGGGAAGCTGGCAGTGCTTGGTTCATGTCACATGTTCAGTGATCAATATTTGGACAAAGAAGAAAACAGCAAAATCATGGTAAGCTTTTTCTTTTGTCATATTAATATACAATGTGTATTATTTTCATGTCATTTAAAAAAATACTGGTAAGTTTATTTGCTC... | GTATTTCTAAACTTTAAAATCTGGGTGTGAATTGGCACTCTTCAGTATATAAGACAGTTGCTAGCATGATTCTAATAAGTGTCTGGGTACTAGGATACATGAGATGCACTTTCGGATTTGAGTATCTGACCCTGCTTTGTCATCAATAGAACCAAGGTGGGAAGCTGGCAGTGCTTGGTTCATGTCACATGTTCAGTGATCAATATTTGGACAAAGAAGAAAACAGCAAAATCATGGTAAGCTTTTTCTTTTGTCATATTAATATACAATGTGTATTATTTTCATGTCATTTAAAAAAATACTGGTAAGTTTATTTGCTC... | benign | 313,473 |
Clinical classification of chromosome 20, position 43637268, gene IFT52 (intraflagellar transport 52): benign or pathogenic? Disease(s) if pathogenic? | benign | TTCTCTTCCTGTATTAGTTTGCTAAGGATAATGGCCTCTAGCGCCATCCAAGTCCTTGGCAAAGGACATGATCTCATTCTTTTTTTTTGAGACAGAATTTTTGCTCTCTTGCCCAGGCTGGAGTGCAATCGCACGATCTCTGCTCACTGTAACCTCCGCCTCTTTGGTTCAAGCGATTTTCCTGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCAGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGGAGACAAGGTTTCACTATGTTGGCCAGGCTGGTTTCGAACTCTTGACCTCAGGTGATCC... | TTCTCTTCCTGTATTAGTTTGCTAAGGATAATGGCCTCTAGCGCCATCCAAGTCCTTGGCAAAGGACATGATCTCATTCTTTTTTTTTGAGACAGAATTTTTGCTCTCTTGCCCAGGCTGGAGTGCAATCGCACGATCTCTGCTCACTGTAACCTCCGCCTCTTTGGTTCAAGCGATTTTCCTGCCTCAGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCCAGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGGAGACAAGGTTTCACTATGTTGGCCAGGCTGGTTTCGAACTCTTGACCTCAGGTGATCC... | benign | 313,480 |
Classify the chromosome 20 variant at position 44118607 affecting gene JPH2 (junctophilin 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CCCTGTAGTATCCCTATGAAGTTGATGCTACTGTGAACCTCAAAGGGAGGCTCTGAGAGGTTAAATCACTTGCCCAAAGACACACAGCTGTCGAAGGGCAGAGCCAGGACTAGCACCCAGCAGTCTGGCTCCAGAGGCGATGCCCTTTACTTTGGCACGCGTCTCTTTCCATTCCCTTATCTGAAACATGGGCCTGATCATACCTATTTTATAAATACGAATGGAAGGATTGAGAAAATGCATGTCAAAGGCGGAGCTCAGGGCCCCGCACCGGCATAGACCAGCAGGGGGAGCGCTGTGACCAGAAGTGAGGGATCCTC... | CCCTGTAGTATCCCTATGAAGTTGATGCTACTGTGAACCTCAAAGGGAGGCTCTGAGAGGTTAAATCACTTGCCCAAAGACACACAGCTGTCGAAGGGCAGAGCCAGGACTAGCACCCAGCAGTCTGGCTCCAGAGGCGATGCCCTTTACTTTGGCACGCGTCTCTTTCCATTCCCTTATCTGAAACATGGGCCTGATCATACCTATTTTATAAATACGAATGGAAGGATTGAGAAAATGCATGTCAAAGGCGGAGCTCAGGGCCCCGCACCGGCATAGACCAGCAGGGGGAGCGCTGTGACCAGAAGTGAGGGATCCTC... | benign | 313,561 |
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