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 |
|---|---|---|---|---|---|
Determine if the mutation at chromosome 12, position 120994237 in gene HNF1A (HNF1 homeobox A) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | TCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACA... | TCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACA... | pathogenic | 204,153 |
Assess the variant on chromosome 12, position 120994259, impacting HNF1A (HNF1 homeobox A): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Monogenic_diabetes'] | TTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACA... | TTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACA... | pathogenic | 204,160 |
Does the variant impacting HNF1A (HNF1 homeobox A) on chromosome 12, position 120994311, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Monogenic_diabetes'] | TATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACA... | TATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACA... | pathogenic | 204,169 |
A genetic alteration at chromosome 12, position 120994311, in gene HNF1A (HNF1 homeobox A)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Diabetes_mellitus_type_1', 'HNF1A-related_disorder', 'Hepatic_adenomas,_familial', 'Maturity-onset_diabetes_of_the_young_type_3', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes', 'Nonpapillary_renal_cell_carcinoma', 'Type_1_diabetes_mellitus_20', 'Type_2_diabetes_mellitus'] | TATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACA... | TATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACA... | pathogenic | 204,170 |
Does the variant impacting HNF1A (HNF1 homeobox A) on chromosome 12, position 120994312, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_3', 'Maturity_onset_diabetes_mellitus_in_young'] | ATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAG... | ATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAG... | pathogenic | 204,171 |
Does the variant on chromosome 12 at location 120994313 affecting gene HNF1A (HNF1 homeobox A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_3', 'Type_1_diabetes_mellitus_20'] | TAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGT... | TAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGT... | pathogenic | 204,172 |
Evaluate this variant at chromosome 12, position 120994314, gene HNF1A (HNF1 homeobox A): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Diabetes_mellitus_type_1', 'Hepatic_adenomas,_familial', 'Maturity-onset_diabetes_of_the_young_type_3', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes', 'Nonpapillary_renal_cell_carcinoma', 'Type_1_diabetes_mellitus_20', 'Type_2_diabetes_mellitus'] | AGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTT... | AGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTT... | pathogenic | 204,173 |
Is the chromosome 12, position 120994314 variant in HNF1A (HNF1 homeobox A) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Clear_cell_carcinoma_of_kidney', 'DiGeorge_syndrome', 'Diabetes_mellitus_type_1', 'Hepatic_adenomas,_familial', 'Maturity-onset_diabetes_of_the_young_type_3', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes', 'Type_1_diabetes_mellitus_20'] | AGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTT... | AGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTT... | pathogenic | 204,174 |
Variant at chromosome position 120994314, chromosome 12, gene HNF1A (HNF1 homeobox A): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_3', 'Monogenic_diabetes'] | AGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTT... | AGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTT... | pathogenic | 204,175 |
For chromosome 12, position 120994387, gene HNF1A (HNF1 homeobox A): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic | TCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTG... | TCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGTCTAACATAAAAAGTGCCCAAATCCAAAGCATACAGTTCAATGAATTTTCACAAAGTGAACACACCAATACAGATAAAAAATAGAATATTACCAGCTCCCAGCCTGGTGTG... | pathogenic | 204,180 |
Classify the chromosome 12 variant at position 120996285 affecting gene HNF1A (HNF1 homeobox A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Monogenic_diabetes'] | CGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCA... | CGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCA... | pathogenic | 204,187 |
Gene HNF1A (HNF1 homeobox A) variant at chromosome 12, position 120996302—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young'] | TGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCT... | TGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCT... | pathogenic | 204,188 |
Is the genetic change at chromosome 12, position 120996326, within gene HNF1A (HNF1 homeobox A) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young'] | CTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCC... | CTTCCGGCACAAGCTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCCGCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACGGTAAGTGGTATGTGGGGACAAGGGACACGTGGGAAGGTGGGAGGGTTGGGGAGGACTGTCCCAGTGACAGCAGTCACCTAAACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCC... | pathogenic | 204,191 |
Considering the variant on chromosome 12, location 120996534, involving gene HNF1A (HNF1 homeobox A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATC... | AACCTCTTTGCACTTCAGTTTGGTTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATC... | benign | 204,196 |
Gene HNF1A (HNF1 homeobox A) variant at chromosome position 120996557 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_3', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | TTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTC... | TTCCATTCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTC... | pathogenic | 204,198 |
Does the variant on chromosome 12 at location 120996563 affecting gene HNF1A (HNF1 homeobox A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_3', 'Maturity_onset_diabetes_mellitus_in_young'] | TCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCA... | TCCATTCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCA... | pathogenic | 204,199 |
Clinical classification of chromosome 12, position 120996568, gene HNF1A (HNF1 homeobox A): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_3', 'Maturity_onset_diabetes_mellitus_in_young'] | TCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTC... | TCATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTC... | pathogenic | 204,202 |
Chromosome 12, position 120996569, gene HNF1A (HNF1 homeobox A): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Monogenic_diabetes'] | CATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCA... | CATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCA... | pathogenic | 204,204 |
Benign or pathogenic: chromosome 12, position 120996569, gene HNF1A (HNF1 homeobox A) variant? Disease(s) if pathogenic? | pathogenic; ['HNF1A-related_disorder', 'Maturity-onset_diabetes_of_the_young_type_3', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | CATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCA... | CATGCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCA... | pathogenic | 204,206 |
Does the chromosome 12 mutation at position 120996572 within gene HNF1A (HNF1 homeobox A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young'] | GCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCC... | GCCACTCCTTATCACTCTACTTCACTCTGTTCATTCATCCATTCCACTCTATCTCATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCC... | pathogenic | 204,207 |
Considering the variant on chromosome 12, location 120996626, involving gene HNF1A (HNF1 homeobox A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young'] | CATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAA... | CATTCCATTCACTCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAA... | pathogenic | 204,209 |
Regarding the variant found on chromosome 12 at position 120996638 in gene HNF1A (HNF1 homeobox A): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Monogenic_diabetes'] | TCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATC... | TCTACTCCTTTCCACTCTATTCACTCCATCCACCACAATTAACCCCATTCCATCCACTCCATCCACTACCTTCGACTCCACTCCATCCACTCTACTCCATTCACTCCACTCAACTCCACTCCATCCACTCCACTCCGTCCAACTTCATCCCATCCACTACATTCAACTCCACTCCATCCACTCTACTCCATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATC... | pathogenic | 204,210 |
For chromosome 12, position 120996827, gene HNF1A (HNF1 homeobox A): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | ATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCAT... | ATCTACTACCTTCAACTCTACCCCATCCATCCACTCCACTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCTACTCCATCCACTCCACTCCATCCATTGCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATCCACTCCACTCCATCCATTCCCTCCAACTTCATCCCATCCAGTACATTCAACTCCACTCCATCCACTGTACTCCATCTACTACATTCAACTCTACTCCATCCACTCCCCTCCATCCATTCCATCCAACTTCATCCCATCTACTACATTCAACTCCACTCCATTCAT... | benign | 204,216 |
Is the variant located on chromosome 12 at position 120997522, gene HNF1A (HNF1 homeobox A), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_3', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | TTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGA... | TTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGA... | pathogenic | 204,226 |
Mutation found at chromosome 12 position 120997623, gene HNF1A (HNF1 homeobox A): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young'] | CCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAA... | CCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAA... | pathogenic | 204,236 |
Located at chromosome 12 position 120997647, the variant affecting gene HNF1A (HNF1 homeobox A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_3', 'Maturity_onset_diabetes_mellitus_in_young'] | CCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCA... | CCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACCCTTTACCACTCCACTCGACTGTACCCATTCCACTTGATCCCACTCATTCCACTCAATTCCATCTACTCTACTCCACACCATCCACTCCACTTCATATCATTCCACTCAACTCAACCTAAGTTGATTTGGGTTAATTCAATTCA... | pathogenic | 204,240 |
Is the chromosome 12, position 120999248 variant in HNF1A (HNF1 homeobox A) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GCTCCAGGGAACCGCAGTTTGACAACTTTTGAACAAGTCACCGCCTGCCTCTCCCACTAGCCTAGACAAAGAGCTAAAGGCTCAGAGAGGGGGAATGACTTGCCAGAGCCACTTAAATTAGTGGCAGGTCCCAGTGGAGGGCTGTTTCCTGACCACCCTGCCCCCTCCTCCAAACCACGGGCTCTGGGAAGGAGAGGTGGTGCCCTTGGGAGGTCTTGGGCAGGGGTGGGATATAACTGGGGGGCCCAGCTGATTCCCTCCCCTTCCACTCCAGGCCTGGCCTCCACGCAGGCACAGAGTGTGCCGGTCATCAACAGCAT... | GCTCCAGGGAACCGCAGTTTGACAACTTTTGAACAAGTCACCGCCTGCCTCTCCCACTAGCCTAGACAAAGAGCTAAAGGCTCAGAGAGGGGGAATGACTTGCCAGAGCCACTTAAATTAGTGGCAGGTCCCAGTGGAGGGCTGTTTCCTGACCACCCTGCCCCCTCCTCCAAACCACGGGCTCTGGGAAGGAGAGGTGGTGCCCTTGGGAGGTCTTGGGCAGGGGTGGGATATAACTGGGGGGCCCAGCTGATTCCCTCCCCTTCCACTCCAGGCCTGGCCTCCACGCAGGCACAGAGTGTGCCGGTCATCAACAGCAT... | benign | 204,248 |
Regarding the variant found on chromosome 12 at position 120999269 in gene HNF1A (HNF1 homeobox A): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_3', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | ACAACTTTTGAACAAGTCACCGCCTGCCTCTCCCACTAGCCTAGACAAAGAGCTAAAGGCTCAGAGAGGGGGAATGACTTGCCAGAGCCACTTAAATTAGTGGCAGGTCCCAGTGGAGGGCTGTTTCCTGACCACCCTGCCCCCTCCTCCAAACCACGGGCTCTGGGAAGGAGAGGTGGTGCCCTTGGGAGGTCTTGGGCAGGGGTGGGATATAACTGGGGGGCCCAGCTGATTCCCTCCCCTTCCACTCCAGGCCTGGCCTCCACGCAGGCACAGAGTGTGCCGGTCATCAACAGCATGGGCAGCAGCCTGACCACCCT... | ACAACTTTTGAACAAGTCACCGCCTGCCTCTCCCACTAGCCTAGACAAAGAGCTAAAGGCTCAGAGAGGGGGAATGACTTGCCAGAGCCACTTAAATTAGTGGCAGGTCCCAGTGGAGGGCTGTTTCCTGACCACCCTGCCCCCTCCTCCAAACCACGGGCTCTGGGAAGGAGAGGTGGTGCCCTTGGGAGGTCTTGGGCAGGGGTGGGATATAACTGGGGGGCCCAGCTGATTCCCTCCCCTTCCACTCCAGGCCTGGCCTCCACGCAGGCACAGAGTGTGCCGGTCATCAACAGCATGGGCAGCAGCCTGACCACCCT... | pathogenic | 204,251 |
Is the genetic mutation found on chromosome 12 at position 120999306, within the gene HNF1A (HNF1 homeobox A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_3', 'Maturity_onset_diabetes_mellitus_in_young'] | AGCCTAGACAAAGAGCTAAAGGCTCAGAGAGGGGGAATGACTTGCCAGAGCCACTTAAATTAGTGGCAGGTCCCAGTGGAGGGCTGTTTCCTGACCACCCTGCCCCCTCCTCCAAACCACGGGCTCTGGGAAGGAGAGGTGGTGCCCTTGGGAGGTCTTGGGCAGGGGTGGGATATAACTGGGGGGCCCAGCTGATTCCCTCCCCTTCCACTCCAGGCCTGGCCTCCACGCAGGCACAGAGTGTGCCGGTCATCAACAGCATGGGCAGCAGCCTGACCACCCTGCAGCCCGTCCAGTTCTCCCAGCCGCTGCACCCCTCC... | AGCCTAGACAAAGAGCTAAAGGCTCAGAGAGGGGGAATGACTTGCCAGAGCCACTTAAATTAGTGGCAGGTCCCAGTGGAGGGCTGTTTCCTGACCACCCTGCCCCCTCCTCCAAACCACGGGCTCTGGGAAGGAGAGGTGGTGCCCTTGGGAGGTCTTGGGCAGGGGTGGGATATAACTGGGGGGCCCAGCTGATTCCCTCCCCTTCCACTCCAGGCCTGGCCTCCACGCAGGCACAGAGTGTGCCGGTCATCAACAGCATGGGCAGCAGCCTGACCACCCTGCAGCCCGTCCAGTTCTCCCAGCCGCTGCACCCCTCC... | pathogenic | 204,254 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 120999576, gene HNF1A (HNF1 homeobox A). What disease(s) is it linked to if pathogenic? | pathogenic; ['Monogenic_diabetes'] | GCCTGACCACCCTGCAGCCCGTCCAGTTCTCCCAGCCGCTGCACCCCTCCTACCAGCAGCCGCTCATGCCACCTGTGCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGCAGAGCCCCCACGGTGAGCGCCCTGTGCCCCACACAGCAGGAGATGATGATAGAGGTTGGCTGTCAATGGATGCAGGGGAAAGGGGTGCCTGGCAGGCATTGCAGTCTGCATGTGTCTCTGGGACAAGTGTGTTTCCGTGATTGAGGGTGTCTGCAGGCCAGTGTGTTCCCATGTGAATGCACGTATCTGTGTGT... | GCCTGACCACCCTGCAGCCCGTCCAGTTCTCCCAGCCGCTGCACCCCTCCTACCAGCAGCCGCTCATGCCACCTGTGCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGCAGAGCCCCCACGGTGAGCGCCCTGTGCCCCACACAGCAGGAGATGATGATAGAGGTTGGCTGTCAATGGATGCAGGGGAAAGGGGTGCCTGGCAGGCATTGCAGTCTGCATGTGTCTCTGGGACAAGTGTGTTTCCGTGATTGAGGGTGTCTGCAGGCCAGTGTGTTCCCATGTGAATGCACGTATCTGTGTGT... | pathogenic | 204,274 |
Variant in HNF1A (HNF1 homeobox A), chromosome 12, position 120999578—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | CTGACCACCCTGCAGCCCGTCCAGTTCTCCCAGCCGCTGCACCCCTCCTACCAGCAGCCGCTCATGCCACCTGTGCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGCAGAGCCCCCACGGTGAGCGCCCTGTGCCCCACACAGCAGGAGATGATGATAGAGGTTGGCTGTCAATGGATGCAGGGGAAAGGGGTGCCTGGCAGGCATTGCAGTCTGCATGTGTCTCTGGGACAAGTGTGTTTCCGTGATTGAGGGTGTCTGCAGGCCAGTGTGTTCCCATGTGAATGCACGTATCTGTGTGTGT... | CTGACCACCCTGCAGCCCGTCCAGTTCTCCCAGCCGCTGCACCCCTCCTACCAGCAGCCGCTCATGCCACCTGTGCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGCAGAGCCCCCACGGTGAGCGCCCTGTGCCCCACACAGCAGGAGATGATGATAGAGGTTGGCTGTCAATGGATGCAGGGGAAAGGGGTGCCTGGCAGGCATTGCAGTCTGCATGTGTCTCTGGGACAAGTGTGTTTCCGTGATTGAGGGTGTCTGCAGGCCAGTGTGTTCCCATGTGAATGCACGTATCTGTGTGTGT... | benign | 204,276 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 120999579, gene HNF1A (HNF1 homeobox A). What disease(s) is it linked to if pathogenic? | pathogenic; ['Monogenic_diabetes'] | TGACCACCCTGCAGCCCGTCCAGTTCTCCCAGCCGCTGCACCCCTCCTACCAGCAGCCGCTCATGCCACCTGTGCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGCAGAGCCCCCACGGTGAGCGCCCTGTGCCCCACACAGCAGGAGATGATGATAGAGGTTGGCTGTCAATGGATGCAGGGGAAAGGGGTGCCTGGCAGGCATTGCAGTCTGCATGTGTCTCTGGGACAAGTGTGTTTCCGTGATTGAGGGTGTCTGCAGGCCAGTGTGTTCCCATGTGAATGCACGTATCTGTGTGTGTG... | TGACCACCCTGCAGCCCGTCCAGTTCTCCCAGCCGCTGCACCCCTCCTACCAGCAGCCGCTCATGCCACCTGTGCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGCAGAGCCCCCACGGTGAGCGCCCTGTGCCCCACACAGCAGGAGATGATGATAGAGGTTGGCTGTCAATGGATGCAGGGGAAAGGGGTGCCTGGCAGGCATTGCAGTCTGCATGTGTCTCTGGGACAAGTGTGTTTCCGTGATTGAGGGTGTCTGCAGGCCAGTGTGTTCCCATGTGAATGCACGTATCTGTGTGTGTG... | pathogenic | 204,278 |
Located at chromosome 12 position 120999600, the variant affecting gene HNF1A (HNF1 homeobox A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young'] | AGTTCTCCCAGCCGCTGCACCCCTCCTACCAGCAGCCGCTCATGCCACCTGTGCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGCAGAGCCCCCACGGTGAGCGCCCTGTGCCCCACACAGCAGGAGATGATGATAGAGGTTGGCTGTCAATGGATGCAGGGGAAAGGGGTGCCTGGCAGGCATTGCAGTCTGCATGTGTCTCTGGGACAAGTGTGTTTCCGTGATTGAGGGTGTCTGCAGGCCAGTGTGTTCCCATGTGAATGCACGTATCTGTGTGTGTGCACGACTGCTTGTGTGAGCAG... | AGTTCTCCCAGCCGCTGCACCCCTCCTACCAGCAGCCGCTCATGCCACCTGTGCAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGCAGAGCCCCCACGGTGAGCGCCCTGTGCCCCACACAGCAGGAGATGATGATAGAGGTTGGCTGTCAATGGATGCAGGGGAAAGGGGTGCCTGGCAGGCATTGCAGTCTGCATGTGTCTCTGGGACAAGTGTGTTTCCGTGATTGAGGGTGTCTGCAGGCCAGTGTGTTCCCATGTGAATGCACGTATCTGTGTGTGTGCACGACTGCTTGTGTGAGCAG... | pathogenic | 204,281 |
A mutation at chromosome position 121001053 on chromosome 12 in gene HNF1A: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Monogenic_diabetes'] | AGGTGACAAGAGGAGCTGGAGTTGGTTTCTGGCCTCCTCCAGGCTCCCCTGCATCAAGCGCAGCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGC... | AGGTGACAAGAGGAGCTGGAGTTGGTTTCTGGCCTCCTCCAGGCTCCCCTGCATCAAGCGCAGCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGC... | pathogenic | 204,288 |
Considering the genetic mutation at chromosome 12, position 121001067, impacting HNF1A: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Monogenic_diabetes'] | GCTGGAGTTGGTTTCTGGCCTCCTCCAGGCTCCCCTGCATCAAGCGCAGCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATC... | GCTGGAGTTGGTTTCTGGCCTCCTCCAGGCTCCCCTGCATCAAGCGCAGCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATC... | pathogenic | 204,289 |
Clinical classification of chromosome 12, position 121001080, gene HNF1A: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Keratoderma-ichthyosis-deafness_syndrome,_autosomal_recessive', 'Monogenic_diabetes'] | TCTGGCCTCCTCCAGGCTCCCCTGCATCAAGCGCAGCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCA... | TCTGGCCTCCTCCAGGCTCCCCTGCATCAAGCGCAGCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCA... | pathogenic | 204,292 |
Variant chromosome 12, position 121001097, gene HNF1A: benign or pathogenic? Disease(s)? | pathogenic; ['Monogenic_diabetes'] | TCCCCTGCATCAAGCGCAGCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCC... | TCCCCTGCATCAAGCGCAGCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCC... | pathogenic | 204,294 |
Benign or pathogenic: chromosome 12, position 121001115, gene HNF1A variant? Disease(s) if pathogenic? | pathogenic; ['Monogenic_diabetes'] | GCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAG... | GCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAG... | pathogenic | 204,296 |
Variant on chromosome 12, at position 121001135, affecting HNF1A: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Monogenic_diabetes'] | GGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAGCAGGTAAGGTCCAGGCCTGC... | GGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAGCAGGTAAGGTCCAGGCCTGC... | pathogenic | 204,297 |
Assess the variant on chromosome 12, position 121001148, impacting HNF1A: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Monogenic_diabetes'] | GTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAGCAGGTAAGGTCCAGGCCTGCTGGCCCTCCCTTG... | GTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAGCAGGTAAGGTCCAGGCCTGCTGGCCCTCCCTTG... | pathogenic | 204,299 |
Gene KDM2B variant at chromosome 12, position 121580827—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GGCCCGGGGTGGGGGCGCCTCACCTTTGCCCTCCATGGCGTGCACGAAGTCCCCCTGGTACAGCTGGCTGCGAAGCTTCTCCTCCAGGCTGAAGCCGCGGACGCTGACGATCTCCTCCACGTCCGACAAGTCCTCGTTCTCGTCGTATCGCTGGCGGTCAATCGGGCGCTGCGAGGACCCAAACCAGAGAGCCCGGGACATTATTGTGGGGGCTGGAGGTCGCCTCTCAACCTGGGCCCAGCACTAACAGGTGCAGCAGCCGAGCGCCCCCTGCACCCCACCATTGCAACCCAAGCAACTTTGCGCAATTGCCAAAGATG... | GGCCCGGGGTGGGGGCGCCTCACCTTTGCCCTCCATGGCGTGCACGAAGTCCCCCTGGTACAGCTGGCTGCGAAGCTTCTCCTCCAGGCTGAAGCCGCGGACGCTGACGATCTCCTCCACGTCCGACAAGTCCTCGTTCTCGTCGTATCGCTGGCGGTCAATCGGGCGCTGCGAGGACCCAAACCAGAGAGCCCGGGACATTATTGTGGGGGCTGGAGGTCGCCTCTCAACCTGGGCCCAGCACTAACAGGTGCAGCAGCCGAGCGCCCCCTGCACCCCACCATTGCAACCCAAGCAACTTTGCGCAATTGCCAAAGATG... | benign | 204,332 |
Determine if the mutation at chromosome 12, position 121626882 in gene ORAI1 is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GTCACTCATTCCTGTCTCTCCCATAGTTATTCATTCAACAAAAAATTACTGAGGACCGATTGTATGCCGAGGAATATTCTAGATGCTGAGGGTAGAGCTGTGAAGCTGATAGTAAAGGTCCCTGCCCCGGAGTTTACCTCCTAGGAGACATTCCCTAGCACAGTCCTGCATACACCCCCACCTCACCTCTGCTCCCCAAAATTGGCCTTCCAACGCTCCAACAGCCAAATATCCCTGCTTAAAGGTCTTGGCATGAGCAGTTCCCTCGCCGTCCTGGAAAGCTAGATCCTGTCTGTTTGCATGGCGGGCTCTGGTCTCAG... | GTCACTCATTCCTGTCTCTCCCATAGTTATTCATTCAACAAAAAATTACTGAGGACCGATTGTATGCCGAGGAATATTCTAGATGCTGAGGGTAGAGCTGTGAAGCTGATAGTAAAGGTCCCTGCCCCGGAGTTTACCTCCTAGGAGACATTCCCTAGCACAGTCCTGCATACACCCCCACCTCACCTCTGCTCCCCAAAATTGGCCTTCCAACGCTCCAACAGCCAAATATCCCTGCTTAAAGGTCTTGGCATGAGCAGTTCCCTCGCCGTCCTGGAAAGCTAGATCCTGTCTGTTTGCATGGCGGGCTCTGGTCTCAG... | benign | 204,336 |
Is the chromosome 12, position 121804751 variant in SETD1B (SET domain containing 1B, histone lysine methyltransferase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_developmental_disorder_with_seizures_and_language_delay', 'Neurodevelopmental_disorder'] | AAAGATGGATTCCAAGTCATAAGGAAAAATCCAGATCTTTTTAAAAAGTCTTCTCCAGTCTTCCAACTGTGAGTCCTTGGGCCTGTTGACAAATGTTAAACACACTGAGACGTCCTGAACTGGATGGTAGAGTCAAAGGAAAAACATTCCCCATTTGCAACAAAGGAAAAACCCACTTGGCCATTTAATTCCATTGCAGAAAAATGGCTTCCCTCATCTGTTGGCCTCTCCTTCGTGTCTGATGAAGGATGTTTTGAGATCAGCGTCTAATAACTCAAGCCCTATAGAAGCCGCGCGCTGATTGGCTGCCGCGCCCTGCC... | AAAGATGGATTCCAAGTCATAAGGAAAAATCCAGATCTTTTTAAAAAGTCTTCTCCAGTCTTCCAACTGTGAGTCCTTGGGCCTGTTGACAAATGTTAAACACACTGAGACGTCCTGAACTGGATGGTAGAGTCAAAGGAAAAACATTCCCCATTTGCAACAAAGGAAAAACCCACTTGGCCATTTAATTCCATTGCAGAAAAATGGCTTCCCTCATCTGTTGGCCTCTCCTTCGTGTCTGATGAAGGATGTTTTGAGATCAGCGTCTAATAACTCAAGCCCTATAGAAGCCGCGCGCTGATTGGCTGCCGCGCCCTGCC... | pathogenic | 204,360 |
The chromosome 12, position 121810310 genetic variant in gene SETD1B (SET domain containing 1B, histone lysine methyltransferase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Intellectual_developmental_disorder_with_seizures_and_language_delay'] | AGACCCTCCCAGTGGGCGAGCTGGACGCTGTCTCTCCAATCGTGAATGAGACCCTGCAGGTGGGTTTATGGCCGTCAGTCTGCCCCATCGCCAGCTCTTTGATGTGCCCCCCACCTCTGGAAAGCCTCACCAACTCTCTTATGGGACCCCCAGCCTACCCCCACCTCACTCCAGCTTTGGAGACCAAGGCCTAGGAGGGTGTGAAGCCTGGCCACGCCCCCCACAATTGGGAGCAGGGCCTAGAGCCCCATTTTCCCAAGTGCTCCTGCAGTAGGGCTCCATGGGATTGGTTCTGTTTCCTGTGGCTTCTCCCCTCCCCA... | AGACCCTCCCAGTGGGCGAGCTGGACGCTGTCTCTCCAATCGTGAATGAGACCCTGCAGGTGGGTTTATGGCCGTCAGTCTGCCCCATCGCCAGCTCTTTGATGTGCCCCCCACCTCTGGAAAGCCTCACCAACTCTCTTATGGGACCCCCAGCCTACCCCCACCTCACTCCAGCTTTGGAGACCAAGGCCTAGGAGGGTGTGAAGCCTGGCCACGCCCCCCACAATTGGGAGCAGGGCCTAGAGCCCCATTTTCCCAAGTGCTCCTGCAGTAGGGCTCCATGGGATTGGTTCTGTTTCCTGTGGCTTCTCCCCTCCCCA... | pathogenic | 204,364 |
Clinical classification of chromosome 12, position 121819537, gene SETD1B (SET domain containing 1B, histone lysine methyltransferase): benign or pathogenic? Disease(s) if pathogenic? | benign | GGGGAGGAGGACGAGAAGGAGTCATTGTCGGCGTCCTCGTCCTCATCCGCGTCATCATCCTCGGGGTCCTCAACCACCTCACCCTCGTCCTCGGCCTCCGACAAGGAGGAGGAACAGGAGAGCACCGAGGAGGAAGAGGAGGCGGAGGAGGAGGAGGAGGAGGAAGTCCCCAGGAGCCAGCTCTCCTCCTCCTCAACCTCATCCACATCAGATAAGGTGCCTAGCAGGCCAGGAAGCCTCAGGGGGCCGGGCCAGGCGACGAGGGCCAGACCCTTCGGCTCACCTGTCCCCACTCTTCCTTCTCCCCCAGGATGACGACG... | GGGGAGGAGGACGAGAAGGAGTCATTGTCGGCGTCCTCGTCCTCATCCGCGTCATCATCCTCGGGGTCCTCAACCACCTCACCCTCGTCCTCGGCCTCCGACAAGGAGGAGGAACAGGAGAGCACCGAGGAGGAAGAGGAGGCGGAGGAGGAGGAGGAGGAGGAAGTCCCCAGGAGCCAGCTCTCCTCCTCCTCAACCTCATCCACATCAGATAAGGTGCCTAGCAGGCCAGGAAGCCTCAGGGGGCCGGGCCAGGCGACGAGGGCCAGACCCTTCGGCTCACCTGTCCCCACTCTTCCTTCTCCCCCAGGATGACGACG... | benign | 204,371 |
Does the genetic variant at chromosome 12, position 121822748, impacting gene SETD1B (SET domain containing 1B, histone lysine methyltransferase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Intellectual_developmental_disorder_with_seizures_and_language_delay'] | ATTTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGCGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGTCCTAGCACCTACCTTTAATAAGTCCTTCAGGAAAGGATTACAGCTGCCCCTGTACATTGAACACATGGCTAGGGCCCACGGACATGCAGTTTTCAACCAAATATGGACGGAAAAGACCGGTGGGATGCGAAACCCACTGTATATGGAGGGCGATCGCCTATACGTGGGTTCTGCAAGGCAGACTACAA... | ATTTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGCGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGTCCTAGCACCTACCTTTAATAAGTCCTTCAGGAAAGGATTACAGCTGCCCCTGTACATTGAACACATGGCTAGGGCCCACGGACATGCAGTTTTCAACCAAATATGGACGGAAAAGACCGGTGGGATGCGAAACCCACTGTATATGGAGGGCGATCGCCTATACGTGGGTTCTGCAAGGCAGACTACAA... | pathogenic | 204,373 |
A genetic alteration at chromosome 12, position 121830157, in gene SETD1B (SET domain containing 1B, histone lysine methyltransferase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Neurodevelopmental_disorder'] | TGCCCCTGGCCCTGCTTCTGTGCCAGGAGGGCCTGGAAGCCCCGGCACGGGAATCAGCTCGGCCTCCTTCCCAAGCTCAGGTTGGCCAAGGGTTATAGGGAGAGGAGGACATGTGAGGTCTTTTACCAGGAGCTCTACTCCTCTGAGCCTCAGTTTCTCATCTGTCAAATGGGCATAGTGAGACTTCTGTGGCATTTAGAGGACTCAAAGAAGTGGTTGGTTCAGTTCATTGGTAATTTCGGAGTTATTTCTCTGCGTTAGCCTTTTCTCCGTGCCTTCATTGGTCAGGCTCAGTCCTGCTCGGGCCGAGCTGTCCACTA... | TGCCCCTGGCCCTGCTTCTGTGCCAGGAGGGCCTGGAAGCCCCGGCACGGGAATCAGCTCGGCCTCCTTCCCAAGCTCAGGTTGGCCAAGGGTTATAGGGAGAGGAGGACATGTGAGGTCTTTTACCAGGAGCTCTACTCCTCTGAGCCTCAGTTTCTCATCTGTCAAATGGGCATAGTGAGACTTCTGTGGCATTTAGAGGACTCAAAGAAGTGGTTGGTTCAGTTCATTGGTAATTTCGGAGTTATTTCTCTGCGTTAGCCTTTTCTCCGTGCCTTCATTGGTCAGGCTCAGTCCTGCTCGGGCCGAGCTGTCCACTA... | pathogenic | 204,379 |
Determine if the mutation at chromosome 12, position 121856399 in gene HPD is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hawkinsinuria', 'Tyrosinemia_type_III'] | TCTTTGCTCATTTAAACAGAGTCATAGAGAGGTACAGTAATATGCCCAAAGTCACACAGCTCGTGTGGGAACTGATGTCCCCAGACCCCATCCTTCTCCCTTCTTCAGAGCCCCTGCCTTCACCCCCTTGCTGTCATCCTCCCGCACTGGGAGGAAGGGAAGCCTGGGAGGAGTGGCTGGTGGCTCCTGCAGTCCCCGTACACTGGCCAGGCAATACGGGGGACAGACTTGAGGGACAATGTCTGTGCTCCAAGGCCCATGGGTGGGATGGTTTGATGGAGTCAGCTGCGGGGCTCCTGGCATCTCAGTGGTGCCGACAG... | TCTTTGCTCATTTAAACAGAGTCATAGAGAGGTACAGTAATATGCCCAAAGTCACACAGCTCGTGTGGGAACTGATGTCCCCAGACCCCATCCTTCTCCCTTCTTCAGAGCCCCTGCCTTCACCCCCTTGCTGTCATCCTCCCGCACTGGGAGGAAGGGAAGCCTGGGAGGAGTGGCTGGTGGCTCCTGCAGTCCCCGTACACTGGCCAGGCAATACGGGGGACAGACTTGAGGGACAATGTCTGTGCTCCAAGGCCCATGGGTGGGATGGTTTGATGGAGTCAGCTGCGGGGCTCCTGGCATCTCAGTGGTGCCGACAG... | pathogenic | 204,396 |
Does the chromosome 12 mutation at position 122238770 within gene VPS33A (VPS33A core subunit of CORVET and HOPS complexes) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | ATTAACTCAGTCATCCCGGCTCTAACCCCATGACGTAGGTATCATTACCTTCATTTTACAGAGATGTTTAAATAACCTGCCTAAAGTCACACAGCTAGTGAAGAGCAGAGCTGAAACCTGGATCCAGCCAGTCTTGCTCTGAAGTCTGTGTATGGAAACATTCTGTCTAAATGCAAAGAATGGAGTTTGGAAGGAAGCAAATCAGACTGCTGACACTGGTCACATCTGGGGAGGGAAACTGGGGTATGAGCAAGGTACAGGGGACGTTCACATTTTGCTCTGTGTACTTCTGCATTATTTGACTCTTACACAAGGATACA... | ATTAACTCAGTCATCCCGGCTCTAACCCCATGACGTAGGTATCATTACCTTCATTTTACAGAGATGTTTAAATAACCTGCCTAAAGTCACACAGCTAGTGAAGAGCAGAGCTGAAACCTGGATCCAGCCAGTCTTGCTCTGAAGTCTGTGTATGGAAACATTCTGTCTAAATGCAAAGAATGGAGTTTGGAAGGAAGCAAATCAGACTGCTGACACTGGTCACATCTGGGGAGGGAAACTGGGGTATGAGCAAGGTACAGGGGACGTTCACATTTTGCTCTGTGTACTTCTGCATTATTTGACTCTTACACAAGGATACA... | benign | 204,438 |
The chromosome 12, position 122266132 genetic variant in gene VPS33A (VPS33A core subunit of CORVET and HOPS complexes): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TAAAGTACAGAATTATTAATCCCCTAACAAAACCCAAATAGCTCATTTACCTTCAATAGTGAATACTGTGCAATCAGGCCAAAGGGTCCAGTTAGGTATTCATCCCAAACTATTGCCTGTAAGAGGGGAGAAACATTCTCTTATTATAGTTAATATCAGGAATTTTAACAATACCAATAAAAAATAGCCTAACAGGAGGAGTATTTGCTTCAAATTCTGAGTTAAAAAATTTTATCCTAGTGTTACAAAATTAAAATAATAATAATACATAAAGGAGAAAAAAGAATTTAAAAATTTTTTGGGGTTTTGCTGTTATTTTG... | TAAAGTACAGAATTATTAATCCCCTAACAAAACCCAAATAGCTCATTTACCTTCAATAGTGAATACTGTGCAATCAGGCCAAAGGGTCCAGTTAGGTATTCATCCCAAACTATTGCCTGTAAGAGGGGAGAAACATTCTCTTATTATAGTTAATATCAGGAATTTTAACAATACCAATAAAAAATAGCCTAACAGGAGGAGTATTTGCTTCAAATTCTGAGTTAAAAAATTTTATCCTAGTGTTACAAAATTAAAATAATAATAATACATAAAGGAGAAAAAAGAATTTAAAAATTTTTTGGGGTTTTGCTGTTATTTTG... | benign | 204,461 |
Evaluate the clinical significance of the mutation at chromosome 12, position 123253769 in gene MTRFR (mitochondrial translation release factor in rescue): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_7', 'Hereditary_spastic_paraplegia_55', 'Spastic_paraplegia'] | CTTCAGAGGGTCTGTGGGTCCTCTCAGGATTGCTGGTTTGTTCTTGCAGTTGATCTAGAGCTAAAATTCACAATGCAAGCCTCTGCATGCTGCTCTGTCTGAAGCTACAATCTAGTCCTGCCTCCTGTCTGCTATGATCCCAGGAGCTCCCATGCAAATAAATTATGATCACAAGGTCCCAAAATAGGCTGTCTAGAGCTGAGGAGCAAGGAGAGCCAGTCTGAGTCCCAAAACTGAAGAACGTGGAGTCTGATGTTCAAGGGCAGGGAGCATCCAGCACTGGAGAAAGATGTAGGCAGAGAGTCTAGGCCCATCTCATC... | CTTCAGAGGGTCTGTGGGTCCTCTCAGGATTGCTGGTTTGTTCTTGCAGTTGATCTAGAGCTAAAATTCACAATGCAAGCCTCTGCATGCTGCTCTGTCTGAAGCTACAATCTAGTCCTGCCTCCTGTCTGCTATGATCCCAGGAGCTCCCATGCAAATAAATTATGATCACAAGGTCCCAAAATAGGCTGTCTAGAGCTGAGGAGCAAGGAGAGCCAGTCTGAGTCCCAAAACTGAAGAACGTGGAGTCTGATGTTCAAGGGCAGGGAGCATCCAGCACTGGAGAAAGATGTAGGCAGAGAGTCTAGGCCCATCTCATC... | pathogenic | 204,500 |
Does the variant impacting MTRFR (mitochondrial translation release factor in rescue) on chromosome 12, position 123253883, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_7', 'Spastic_paraplegia'] | GTCCTGCCTCCTGTCTGCTATGATCCCAGGAGCTCCCATGCAAATAAATTATGATCACAAGGTCCCAAAATAGGCTGTCTAGAGCTGAGGAGCAAGGAGAGCCAGTCTGAGTCCCAAAACTGAAGAACGTGGAGTCTGATGTTCAAGGGCAGGGAGCATCCAGCACTGGAGAAAGATGTAGGCAGAGAGTCTAGGCCCATCTCATCTGTCTTTTAATATCTTCTCTAACTAACCTGTAAGCTCCAAGAAGACAGTCCAGCTCTTTTTCATCTCATGTCCCTTACTGTACCTAACAAGGACCTTATTAAAAGTTGACTGGC... | GTCCTGCCTCCTGTCTGCTATGATCCCAGGAGCTCCCATGCAAATAAATTATGATCACAAGGTCCCAAAATAGGCTGTCTAGAGCTGAGGAGCAAGGAGAGCCAGTCTGAGTCCCAAAACTGAAGAACGTGGAGTCTGATGTTCAAGGGCAGGGAGCATCCAGCACTGGAGAAAGATGTAGGCAGAGAGTCTAGGCCCATCTCATCTGTCTTTTAATATCTTCTCTAACTAACCTGTAAGCTCCAAGAAGACAGTCCAGCTCTTTTTCATCTCATGTCCCTTACTGTACCTAACAAGGACCTTATTAAAAGTTGACTGGC... | pathogenic | 204,502 |
A genetic variant on chromosome 12, position 123253921, affects the gene MTRFR (mitochondrial translation release factor in rescue). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Abnormal_brain_morphology', 'Combined_oxidative_phosphorylation_defect_type_7', 'Epileptic_encephalopathy', 'Hereditary_spastic_paraplegia_55'] | TGCAAATAAATTATGATCACAAGGTCCCAAAATAGGCTGTCTAGAGCTGAGGAGCAAGGAGAGCCAGTCTGAGTCCCAAAACTGAAGAACGTGGAGTCTGATGTTCAAGGGCAGGGAGCATCCAGCACTGGAGAAAGATGTAGGCAGAGAGTCTAGGCCCATCTCATCTGTCTTTTAATATCTTCTCTAACTAACCTGTAAGCTCCAAGAAGACAGTCCAGCTCTTTTTCATCTCATGTCCCTTACTGTACCTAACAAGGACCTTATTAAAAGTTGACTGGCTGGATGCAGTGGCTCACGCCTGTAATCCCAGAACTTTG... | TGCAAATAAATTATGATCACAAGGTCCCAAAATAGGCTGTCTAGAGCTGAGGAGCAAGGAGAGCCAGTCTGAGTCCCAAAACTGAAGAACGTGGAGTCTGATGTTCAAGGGCAGGGAGCATCCAGCACTGGAGAAAGATGTAGGCAGAGAGTCTAGGCCCATCTCATCTGTCTTTTAATATCTTCTCTAACTAACCTGTAAGCTCCAAGAAGACAGTCCAGCTCTTTTTCATCTCATGTCCCTTACTGTACCTAACAAGGACCTTATTAAAAGTTGACTGGCTGGATGCAGTGGCTCACGCCTGTAATCCCAGAACTTTG... | pathogenic | 204,503 |
Does the variant on chromosome 12 at location 123253932 affecting gene MTRFR (mitochondrial translation release factor in rescue) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_7', 'Spastic_paraplegia'] | TATGATCACAAGGTCCCAAAATAGGCTGTCTAGAGCTGAGGAGCAAGGAGAGCCAGTCTGAGTCCCAAAACTGAAGAACGTGGAGTCTGATGTTCAAGGGCAGGGAGCATCCAGCACTGGAGAAAGATGTAGGCAGAGAGTCTAGGCCCATCTCATCTGTCTTTTAATATCTTCTCTAACTAACCTGTAAGCTCCAAGAAGACAGTCCAGCTCTTTTTCATCTCATGTCCCTTACTGTACCTAACAAGGACCTTATTAAAAGTTGACTGGCTGGATGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAAG... | TATGATCACAAGGTCCCAAAATAGGCTGTCTAGAGCTGAGGAGCAAGGAGAGCCAGTCTGAGTCCCAAAACTGAAGAACGTGGAGTCTGATGTTCAAGGGCAGGGAGCATCCAGCACTGGAGAAAGATGTAGGCAGAGAGTCTAGGCCCATCTCATCTGTCTTTTAATATCTTCTCTAACTAACCTGTAAGCTCCAAGAAGACAGTCCAGCTCTTTTTCATCTCATGTCCCTTACTGTACCTAACAAGGACCTTATTAAAAGTTGACTGGCTGGATGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAAG... | pathogenic | 204,504 |
The mutation impacting MTRFR (mitochondrial translation release factor in rescue) on chromosome 12 at position 123256793: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGTCAACATGGCAAAACCCCATCTCTACTGAAAATACAAAAATTAGCCGGGTGTGGTGGCGCGTGCCTGTAATCCCAGTTACTCGGAGGCTAAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGACATTGCAGTGAGCCGAGATCATGCTACTGCATACCAGCCTGGGCAACAGACAAGATTCCCTCTTAAAAAAAAAAAAAAGAAGGTTGGTCAGAGGGGCTCCCAGTCCATCTGCCTCAGGGATCACGAGAGAGTCCTGGAAGCAGCACAGAAGAGAGATAGCCAAGGCAGGTGTTTCATATATAACGATACTGGCAG... | GGTCAACATGGCAAAACCCCATCTCTACTGAAAATACAAAAATTAGCCGGGTGTGGTGGCGCGTGCCTGTAATCCCAGTTACTCGGAGGCTAAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGACATTGCAGTGAGCCGAGATCATGCTACTGCATACCAGCCTGGGCAACAGACAAGATTCCCTCTTAAAAAAAAAAAAAAGAAGGTTGGTCAGAGGGGCTCCCAGTCCATCTGCCTCAGGGATCACGAGAGAGTCCTGGAAGCAGCACAGAAGAGAGATAGCCAAGGCAGGTGTTTCATATATAACGATACTGGCAG... | benign | 204,507 |
The mutation in gene EIF2B1 at chromosome 12, position 123621896—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Leukoencephalopathy_with_vanishing_white_matter_1'] | TGCTCTATTTGCAGAAGCCAATCTGAGAGCTTATAGTTCTTGAGTTAAAACTGCTGGTTTCACTACAACACTATTGCTGAAAAATTTAGTAGTTTATTGGTTTCTTCTGCACTTAGGGTTCTGATATTGAAGATGAGGACATGGAAGAACTTCTTAATGACACAAGACTCTTGAAAAAACTTAAGAAAGGCAAAATAACTGAAGAAGAATTTGAGAAGGGCTTGTTGACAACTGGCAAAAGAACAATCAAGACAGTGGATTTAGGGATCTCAGATTTGGAAGATGACTGCTGATTCCAGTGCCACAGATGAACCCACAAG... | TGCTCTATTTGCAGAAGCCAATCTGAGAGCTTATAGTTCTTGAGTTAAAACTGCTGGTTTCACTACAACACTATTGCTGAAAAATTTAGTAGTTTATTGGTTTCTTCTGCACTTAGGGTTCTGATATTGAAGATGAGGACATGGAAGAACTTCTTAATGACACAAGACTCTTGAAAAAACTTAAGAAAGGCAAAATAACTGAAGAAGAATTTGAGAAGGGCTTGTTGACAACTGGCAAAAGAACAATCAAGACAGTGGATTTAGGGATCTCAGATTTGGAAGATGACTGCTGATTCCAGTGCCACAGATGAACCCACAAG... | pathogenic | 204,535 |
A genetic alteration at chromosome 12, position 123624824, in gene EIF2B1 (eukaryotic translation initiation factor 2B subunit alpha)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic | AATGGAATGGATGAGCTCTAGAGTGCATCTGAAGTAGAAGCCACAGAAAAGCGGGCCGGGCACAGTGGTGCATGCCTGTATTCCAGCATTTTGGGAGGCCGAGGTGGGTGGATCACCTGAACCCATGAGTTTGGGACCAGCCTAGGCAACACGGTGAGACCTCGTCTCAATTACAATAAAGGAACAATTAAAAAACAGCAATAGAAAGTTATGTATATAATATAGATATACATATATCTAATACATATATTAGATATATCTAATTCTGACTTTGGAATCAAAAAAATAAATGTTTCTCAAAGGATATAGAAACAGCCACT... | AATGGAATGGATGAGCTCTAGAGTGCATCTGAAGTAGAAGCCACAGAAAAGCGGGCCGGGCACAGTGGTGCATGCCTGTATTCCAGCATTTTGGGAGGCCGAGGTGGGTGGATCACCTGAACCCATGAGTTTGGGACCAGCCTAGGCAACACGGTGAGACCTCGTCTCAATTACAATAAAGGAACAATTAAAAAACAGCAATAGAAAGTTATGTATATAATATAGATATACATATATCTAATACATATATTAGATATATCTAATTCTGACTTTGGAATCAAAAAAATAAATGTTTCTCAAAGGATATAGAAACAGCCACT... | pathogenic | 204,536 |
Variant at chromosome position 123627063, chromosome 12, gene EIF2B1 (eukaryotic translation initiation factor 2B subunit alpha): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Leukoencephalopathy_with_vanishing_white_matter_1'] | TGGCATTGTTACCAGGGGTGTTTTCTGGTCATGACCCTACAATGAGACATACACTTCACACTGCCGCCCGGCGCATGCACACGTACATATGTGTGTAAGTGAAGCAAGAATGTCCTGACACAGCAGTCTTCCTTCCAAGTGTGGTATCCTCTACTTTCTTTTCTACTTCAGCACAAACCAAACAAAATTTTAAAATCTGATGAGATCTGAAGTTGGACAAAAGTGTTATGCAGTTTTAAAAATCTTTCTTTTTTTTTTTGAGACCAGATCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCATGATCTCAGCCCAAACC... | TGGCATTGTTACCAGGGGTGTTTTCTGGTCATGACCCTACAATGAGACATACACTTCACACTGCCGCCCGGCGCATGCACACGTACATATGTGTGTAAGTGAAGCAAGAATGTCCTGACACAGCAGTCTTCCTTCCAAGTGTGGTATCCTCTACTTTCTTTTCTACTTCAGCACAAACCAAACAAAATTTTAAAATCTGATGAGATCTGAAGTTGGACAAAAGTGTTATGCAGTTTTAAAAATCTTTCTTTTTTTTTTTGAGACCAGATCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCATGATCTCAGCCCAAACC... | pathogenic | 204,539 |
Is the genetic variant on chromosome 12, position 123671310, gene TCTN2 (tectonic family member 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_24', 'Meckel_syndrome,_type_8'] | CCTGGGCCACATGGTGAAACCCCGTCTCTATAAAAAATACAAAAATTAGCCGGGTGTGGTGGTGTATTGCCAGTTACTTGGGAGGCTGAGGTGGGAGGATCAGCTGAGCCCAGAAGTTTGAGGATGCAGTGAGCTATGATTGTGCCACTGCACCATTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAGAAAAAAAAAAAAGACTAATAATGGCAAACATTTACTTGGCATTTACCGTCAGTCAGCCACAATGCTGAACACCATGATTGTCTCAGCTAAAGGATACACCACCTCTCTGATAGTTAACAAGTAAC... | CCTGGGCCACATGGTGAAACCCCGTCTCTATAAAAAATACAAAAATTAGCCGGGTGTGGTGGTGTATTGCCAGTTACTTGGGAGGCTGAGGTGGGAGGATCAGCTGAGCCCAGAAGTTTGAGGATGCAGTGAGCTATGATTGTGCCACTGCACCATTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAGAAAAAAAAAAAAGACTAATAATGGCAAACATTTACTTGGCATTTACCGTCAGTCAGCCACAATGCTGAACACCATGATTGTCTCAGCTAAAGGATACACCACCTCTCTGATAGTTAACAAGTAAC... | pathogenic | 204,553 |
Regarding the variant found on chromosome 12 at position 123679246 in gene TCTN2 (tectonic family member 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_24', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_8'] | GTGCCTTGCTTGTGTCACATGGGTTTGATAACACTGAGGGTCAGACCCTTACCCGTGTAACGTGGTCTGCGATGTGGACCTTCTCCTTGTTCCGGATACCATTGATGTATCATTGACCTTCTGCTATGTTACAGGATAGAACAGATCGTTAGTTGTTCTTTAGATACTTCAGCTATTGTGTCATTACAGTTAACTGTTATGTGGGGTTTAAACAAATAGTTCCTGCATGGTTTTCTAACGTGTACCAAATGCAAAAGTAAAATTCAGCAGAATGAAACTTTTATCTGATAAATGATTGGAGAGAAATCCAAAGCATTACT... | GTGCCTTGCTTGTGTCACATGGGTTTGATAACACTGAGGGTCAGACCCTTACCCGTGTAACGTGGTCTGCGATGTGGACCTTCTCCTTGTTCCGGATACCATTGATGTATCATTGACCTTCTGCTATGTTACAGGATAGAACAGATCGTTAGTTGTTCTTTAGATACTTCAGCTATTGTGTCATTACAGTTAACTGTTATGTGGGGTTTAAACAAATAGTTCCTGCATGGTTTTCTAACGTGTACCAAATGCAAAAGTAAAATTCAGCAGAATGAAACTTTTATCTGATAAATGATTGGAGAGAAATCCAAAGCATTACT... | pathogenic | 204,569 |
Gene mutation in TCTN2 (tectonic family member 2) at chromosome 12, position 123686973—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_24', 'Joubert_syndrome_and_related_disorders', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_8'] | CTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAAGAGGAAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAGTAAAGTACATCATACATTTGGCTCAGGTATCATTAGAATTGTCAAATGGCCCCTCCTTCTCTTCCTTCCAGGCCACGCTGTGTCCCATGTCGGACTCCCTTTTGCATGTGTTGTGCTGTGTGCTACAGTACCAGCCCCTGACGTCCTTTAGTATTCTGGATCAGTGACATCTTCAG... | CTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAAGAGGAAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAGTAAAGTACATCATACATTTGGCTCAGGTATCATTAGAATTGTCAAATGGCCCCTCCTTCTCTTCCTTCCAGGCCACGCTGTGTCCCATGTCGGACTCCCTTTTGCATGTGTTGTGCTGTGTGCTACAGTACCAGCCCCTGACGTCCTTTAGTATTCTGGATCAGTGACATCTTCAG... | pathogenic | 204,573 |
Regarding the variant at chromosome 12 and position 123688083, affecting gene TCTN2 (tectonic family member 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome'] | TAATTTATTTATTTATTTATTTATTTATTTTGAGACAGAATCTCACTGTGTTTCCCAGGATGGAGTGCAGTGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCATGGCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTGTATTTTTAGTAAATATGGGGCTTCACCATGTTGGCCAGTCTGGTCTCACACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCCCTGCACCCAGCCCCAAGCAA... | TAATTTATTTATTTATTTATTTATTTATTTTGAGACAGAATCTCACTGTGTTTCCCAGGATGGAGTGCAGTGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCATGGCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTGTATTTTTAGTAAATATGGGGCTTCACCATGTTGGCCAGTCTGGTCTCACACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCCCTGCACCCAGCCCCAAGCAA... | pathogenic | 204,581 |
Is chromosome 12, position 123688213, gene TCTN2 (tectonic family member 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTGTATTTTTAGTAAATATGGGGCTTCACCATGTTGGCCAGTCTGGTCTCACACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCCCTGCACCCAGCCCCAAGCAATTTCTTGATGACATTAATTGGGTCGTGTTATAATCTAGTGAGGGCCTGGAGGATCCTTGTGGAATATGGAACGTTTCCCCTCACTCTAAATGTCTGGAGGCTTTTCTGGGCTAAGGGTTTGAATGGTAAT... | GCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTGTATTTTTAGTAAATATGGGGCTTCACCATGTTGGCCAGTCTGGTCTCACACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCCCTGCACCCAGCCCCAAGCAATTTCTTGATGACATTAATTGGGTCGTGTTATAATCTAGTGAGGGCCTGGAGGATCCTTGTGGAATATGGAACGTTTCCCCTCACTCTAAATGTCTGGAGGCTTTTCTGGGCTAAGGGTTTGAATGGTAAT... | benign | 204,585 |
Does the variant on chromosome 12 at location 123690604 affecting gene TCTN2 (tectonic family member 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome'] | AAGTCATATTTCTCTTTAAAATCTCTTTTTAAGTTACTTACTTTCCTCCTTTCTACCTTTCAGGGACTTAACTGTTTATGTTCTCCAAATTAATAAAATATATAGTCACTCTTAATCACTGTCTTTGCTTAAAACTCAGAGTGAACTTACAAAATAAAACCAAAAGATTTTCTATAAGTTTCCATGGAAGTACCTATCATTCTTTTTCTTTTTTTTTGAGACAGAGTTTCGCTGTTTTTGCCCAGGCTGGAGTGTAATGGCACAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGC... | AAGTCATATTTCTCTTTAAAATCTCTTTTTAAGTTACTTACTTTCCTCCTTTCTACCTTTCAGGGACTTAACTGTTTATGTTCTCCAAATTAATAAAATATATAGTCACTCTTAATCACTGTCTTTGCTTAAAACTCAGAGTGAACTTACAAAATAAAACCAAAAGATTTTCTATAAGTTTCCATGGAAGTACCTATCATTCTTTTTCTTTTTTTTTGAGACAGAGTTTCGCTGTTTTTGCCCAGGCTGGAGTGTAATGGCACAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGC... | pathogenic | 204,591 |
Considering the variant on chromosome 12, location 123699747, involving gene TCTN2 (tectonic family member 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Joubert_syndrome_24', 'Joubert_syndrome_and_related_disorders', 'Meckel_syndrome,_type_8'] | ACAATGTTGGTCTCAAACTCCTAACCTCAAGTGACCTTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCGCGCCTGGCCTCATTGGAACCTTATACTCCTAGAGCTATGAAAAAGGCCAGAGCAAAGTGTAACTGGGGTGATTAACTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTGTGTTTCCCAGGCTCGGGTGCAGTGGTGCAATCATGGCTTACTGCAGCCCCAACCTCCCCAGGCTCAGGTGGTCCTCCACCTGCCTTGGCTTCCTAAAGTGCTGGGATTACAGGCATGAGTCAC... | ACAATGTTGGTCTCAAACTCCTAACCTCAAGTGACCTTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCGCGCCTGGCCTCATTGGAACCTTATACTCCTAGAGCTATGAAAAAGGCCAGAGCAAAGTGTAACTGGGGTGATTAACTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTGTGTTTCCCAGGCTCGGGTGCAGTGGTGCAATCATGGCTTACTGCAGCCCCAACCTCCCCAGGCTCAGGTGGTCCTCCACCTGCCTTGGCTTCCTAAAGTGCTGGGATTACAGGCATGAGTCAC... | pathogenic | 204,614 |
Mutation at chromosome 12, position 123704544, within TCTN2 (tectonic family member 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_24', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_8'] | CAGACCACTCTCTGACTTGGGGAGGGAGTCCTGTTGGACTCCACCCCCACGGGGCACTCAGGCTGCTGTTTGCTCATCTAGCTGGTGCTCAAGGCACTGGGCCCAGACCTAGATCCTCATTTGCAAACGGAACCCAGAGGTCGAGCTTGTCAAGCCCTGGGCTCTGCCACCCAGGCCAGCTAGATAGGCTGTGGAATGACCCTGAGGGCTGGAGAAAAGTCAGCAGTTGGGAAATAAACGGTAGGGAAAATGTCCAGACGGAGAACCCAGGTTGATGAGGTACGAAATCAGTGTGGTGATGACATTTTGTTGCCTTCAAG... | CAGACCACTCTCTGACTTGGGGAGGGAGTCCTGTTGGACTCCACCCCCACGGGGCACTCAGGCTGCTGTTTGCTCATCTAGCTGGTGCTCAAGGCACTGGGCCCAGACCTAGATCCTCATTTGCAAACGGAACCCAGAGGTCGAGCTTGTCAAGCCCTGGGCTCTGCCACCCAGGCCAGCTAGATAGGCTGTGGAATGACCCTGAGGGCTGGAGAAAAGTCAGCAGTTGGGAAATAAACGGTAGGGAAAATGTCCAGACGGAGAACCCAGGTTGATGAGGTACGAAATCAGTGTGGTGATGACATTTTGTTGCCTTCAAG... | pathogenic | 204,620 |
A genetic alteration at chromosome 12, position 123706760, in gene TCTN2 (tectonic family member 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Joubert_syndrome_24', 'Joubert_syndrome_and_related_disorders', 'Meckel_syndrome,_type_8'] | GTAGTTTAGAGAGAGTCAGGAAAGTTGAGAGCATCCCAAACAATAGGGAAATGTTTATTTAGAAACTGATTGTTTATTTACAACTTGCAATTATTAGCAAGATGTTTATATGCACATATGGAATATGTACGAACTATGTGTATAATGGAGACTTATTCTCACAAGTATTTATAAAGCCATATGTAAGAGAGTCTGCAAGTTATTTTAGGGAGTACAAAGATGAATAAAGGGCCCCTTAGTACTAAGTATATTTTGAAATCCATGGATGTAACTGATAATCTGATCAGAGAATATTGTCTGTGGTTAGAGACTTTGGCAGC... | GTAGTTTAGAGAGAGTCAGGAAAGTTGAGAGCATCCCAAACAATAGGGAAATGTTTATTTAGAAACTGATTGTTTATTTACAACTTGCAATTATTAGCAAGATGTTTATATGCACATATGGAATATGTACGAACTATGTGTATAATGGAGACTTATTCTCACAAGTATTTATAAAGCCATATGTAAGAGAGTCTGCAAGTTATTTTAGGGAGTACAAAGATGAATAAAGGGCCCCTTAGTACTAAGTATATTTTGAAATCCATGGATGTAACTGATAATCTGATCAGAGAATATTGTCTGTGGTTAGAGACTTTGGCAGC... | pathogenic | 204,625 |
Variant in TCTN2 (tectonic family member 2), chromosome 12, position 123706843—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_24', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_8'] | CTTGCAATTATTAGCAAGATGTTTATATGCACATATGGAATATGTACGAACTATGTGTATAATGGAGACTTATTCTCACAAGTATTTATAAAGCCATATGTAAGAGAGTCTGCAAGTTATTTTAGGGAGTACAAAGATGAATAAAGGGCCCCTTAGTACTAAGTATATTTTGAAATCCATGGATGTAACTGATAATCTGATCAGAGAATATTGTCTGTGGTTAGAGACTTTGGCAGCAGATAGGTTCAAATCATGGCTGTCCTACTTAGGAGCTGTGTGACACTGGCCAATTACTTAACCTTTCTGAGCTGTAGTTTCCT... | CTTGCAATTATTAGCAAGATGTTTATATGCACATATGGAATATGTACGAACTATGTGTATAATGGAGACTTATTCTCACAAGTATTTATAAAGCCATATGTAAGAGAGTCTGCAAGTTATTTTAGGGAGTACAAAGATGAATAAAGGGCCCCTTAGTACTAAGTATATTTTGAAATCCATGGATGTAACTGATAATCTGATCAGAGAATATTGTCTGTGGTTAGAGACTTTGGCAGCAGATAGGTTCAAATCATGGCTGTCCTACTTAGGAGCTGTGTGACACTGGCCAATTACTTAACCTTTCTGAGCTGTAGTTTCCT... | pathogenic | 204,626 |
The mutation impacting ATP6V0A2 on chromosome 12 at position 123708040: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGTGCCCGGCCCCTCCTCTTTCTCAAAATAGATCTGGGCAGACTTTTATTGGTTCAGTTTAGGTCATGTGCTCCTTTCTGAACCAATCCCTATGACTGGGGCAATGGACAGCTCTTATTGGCTAGGCTCAGGTGATGGGTGCACCTCTGGATTAGGGCCAATTCCTTCTGCTCCACTGAACTGGAAATGGAGAGTGGTGGCTCTGCAAGGGAAAATGGGAGTGCAGTTACCACCTCCGCAGTACTCTTCTGAGGATAACATGAGATG... | GTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGTGCCCGGCCCCTCCTCTTTCTCAAAATAGATCTGGGCAGACTTTTATTGGTTCAGTTTAGGTCATGTGCTCCTTTCTGAACCAATCCCTATGACTGGGGCAATGGACAGCTCTTATTGGCTAGGCTCAGGTGATGGGTGCACCTCTGGATTAGGGCCAATTCCTTCTGCTCCACTGAACTGGAAATGGAGAGTGGTGGCTCTGCAAGGGAAAATGGGAGTGCAGTTACCACCTCCGCAGTACTCTTCTGAGGATAACATGAGATG... | benign | 204,634 |
A mutation at chromosome position 123712642 on chromosome 12 in gene ATP6V0A2: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['ALG9_congenital_disorder_of_glycosylation', 'Cutis_laxa', 'Cutis_laxa_with_osteodystrophy', 'Wrinkly_skin_syndrome'] | GGACTACAGGTGCCCACCACCACGCCTAGCTAATTTTTATATTTTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCAGGGATTACAGGAGTGAGCCAGGGCACCCAGCCTAGTGTAACTAGCTTTGGATTTCAGGTATTTATGGAAAATAAATTTAAAACTTCCAAATGACAGGTAATTTAGCTTGATTTTGTGGGCTTTGTGAGGACGCCTTTTGTACTTAAAAGAAGGAAAAAACTCAGTTTGGCAGAATGGGGTCTGG... | GGACTACAGGTGCCCACCACCACGCCTAGCTAATTTTTATATTTTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCAGGGATTACAGGAGTGAGCCAGGGCACCCAGCCTAGTGTAACTAGCTTTGGATTTCAGGTATTTATGGAAAATAAATTTAAAACTTCCAAATGACAGGTAATTTAGCTTGATTTTGTGGGCTTTGTGAGGACGCCTTTTGTACTTAAAAGAAGGAAAAAACTCAGTTTGGCAGAATGGGGTCTGG... | pathogenic | 204,641 |
Chromosome 12, position 123712682, gene ATP6V0A2: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['ALG9_congenital_disorder_of_glycosylation', 'Cutis_laxa_with_osteodystrophy', 'Wrinkly_skin_syndrome'] | ATTTTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCAGGGATTACAGGAGTGAGCCAGGGCACCCAGCCTAGTGTAACTAGCTTTGGATTTCAGGTATTTATGGAAAATAAATTTAAAACTTCCAAATGACAGGTAATTTAGCTTGATTTTGTGGGCTTTGTGAGGACGCCTTTTGTACTTAAAAGAAGGAAAAAACTCAGTTTGGCAGAATGGGGTCTGGAGTGTCTATGGTTTTAACTTTTTTAAGTTTATACATTTAT... | ATTTTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCAGGGATTACAGGAGTGAGCCAGGGCACCCAGCCTAGTGTAACTAGCTTTGGATTTCAGGTATTTATGGAAAATAAATTTAAAACTTCCAAATGACAGGTAATTTAGCTTGATTTTGTGGGCTTTGTGAGGACGCCTTTTGTACTTAAAAGAAGGAAAAAACTCAGTTTGGCAGAATGGGGTCTGGAGTGTCTATGGTTTTAACTTTTTTAAGTTTATACATTTAT... | pathogenic | 204,642 |
Variant at chromosome position 123718634, chromosome 12, gene ATP6V0A2 (ATPase H+ transporting V0 subunit a2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['ALG9_congenital_disorder_of_glycosylation', 'Cutis_laxa_with_osteodystrophy', 'Wrinkly_skin_syndrome'] | TTTGAGACCAGCCTGAACAACATGGCGAAACCCCATCTCTACCCAAAATACAAAAATTAGCCGGGTGTGGTGGCACGTGCCTTTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGGACTTCAGCCTAGGCGACAGTGAGATCCTGTCTCAAAAAAAAAAAAAAAGAGTTTATAGAGTCATGCATCCATTGCCACAATTGTTTTAGAACATTCCATCACCCCAGAAGATTCTTAATGCTCATTTACAGTTAATCCTTATTCCTACCC... | TTTGAGACCAGCCTGAACAACATGGCGAAACCCCATCTCTACCCAAAATACAAAAATTAGCCGGGTGTGGTGGCACGTGCCTTTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGGACTTCAGCCTAGGCGACAGTGAGATCCTGTCTCAAAAAAAAAAAAAAAGAGTTTATAGAGTCATGCATCCATTGCCACAATTGTTTTAGAACATTCCATCACCCCAGAAGATTCTTAATGCTCATTTACAGTTAATCCTTATTCCTACCC... | pathogenic | 204,647 |
Evaluate the clinical significance of the mutation at chromosome 12, position 123724747 in gene ATP6V0A2 (ATPase H+ transporting V0 subunit a2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['ALG9_congenital_disorder_of_glycosylation', 'Cutis_laxa_with_osteodystrophy', 'Wrinkly_skin_syndrome'] | AACAGAGGCAACAAGAATCAGGCCATCAAGCCTGATTGATGGATCAGAACAGTTCATGATCCTGTACTGTTTCAGAAAGCTCATCCCAGGGTCACCCATGCCTTAGCTGCCTCTTCTTGTGCAAGGAATTGAGGCTTCGGTGTTGTGCCTTCACAGTCCTCCCACATTTACCCTGGCCCTTCCCCTCTAAATTTTGGAAGCTGGTATGCAGTCCATGGGTTGTCTCGGGTGGGCAGCAAGCAGCGTTCTGTCACCCTGAGTTCCCTGGCTGGTGTGCTGGGGATACATGTGTCCCCGGTGAGAACACTCACCTGTGCTGC... | AACAGAGGCAACAAGAATCAGGCCATCAAGCCTGATTGATGGATCAGAACAGTTCATGATCCTGTACTGTTTCAGAAAGCTCATCCCAGGGTCACCCATGCCTTAGCTGCCTCTTCTTGTGCAAGGAATTGAGGCTTCGGTGTTGTGCCTTCACAGTCCTCCCACATTTACCCTGGCCCTTCCCCTCTAAATTTTGGAAGCTGGTATGCAGTCCATGGGTTGTCTCGGGTGGGCAGCAAGCAGCGTTCTGTCACCCTGAGTTCCCTGGCTGGTGTGCTGGGGATACATGTGTCCCCGGTGAGAACACTCACCTGTGCTGC... | pathogenic | 204,653 |
A mutation at chromosome position 123727767 on chromosome 12 in gene ATP6V0A2 (ATPase H+ transporting V0 subunit a2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GAGGCTGCAGTGAGCTATGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTACCCTGTATCTAAAAAAAAAAAAAAAGAAAAAAAATTATAAGAATAAAGAATAGTCCATGTAGTAGCACCTTATGGAGCTAAGTATAGAAGAGACAAGTGCATCTGTTCCAAACTTAGTTTCACTTGATATGATAGTGACCTTTGATAAAGTTACTCTATCTTGGATGAAGGCAATGAACTAAATTATAACTGTCTTTTATGTAAATGTCTTCAATTGGCTTACAAATAAAGGATGGGGAAGTTATCTTTTCATTT... | GAGGCTGCAGTGAGCTATGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTACCCTGTATCTAAAAAAAAAAAAAAAGAAAAAAAATTATAAGAATAAAGAATAGTCCATGTAGTAGCACCTTATGGAGCTAAGTATAGAAGAGACAAGTGCATCTGTTCCAAACTTAGTTTCACTTGATATGATAGTGACCTTTGATAAAGTTACTCTATCTTGGATGAAGGCAATGAACTAAATTATAACTGTCTTTTATGTAAATGTCTTCAATTGGCTTACAAATAAAGGATGGGGAAGTTATCTTTTCATTT... | benign | 204,661 |
Variant chromosome 12, position 123747736, gene ATP6V0A2 (ATPase H+ transporting V0 subunit a2): benign or pathogenic? Disease(s)? | benign | GGAGCGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAATGGAGAAGTAGCCCCAGGGTGCCAGGACCCCCAACCCCTTCGAGGGCTCAGCAGGCGGTGGCTGAGGCAGTGGACTGCAGGGTTGGGTGGGGTTTTCCTGAGCTGTCAGGAGTCTTTCTGGAGAATCAAAAGAATGACTGAGAAACAATCTCAAAGTTGGTTTGTGGATGTAATTGTGTACAGTCGTTAAACTGAGCAAAAAAAGTCTAGCATTCCTTAACCTGGGCTCTCCAAGGAGGAAGTATCTCTTAGTGTGTTCTGTTTATTCTTATCTCTAAT... | GGAGCGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAATGGAGAAGTAGCCCCAGGGTGCCAGGACCCCCAACCCCTTCGAGGGCTCAGCAGGCGGTGGCTGAGGCAGTGGACTGCAGGGTTGGGTGGGGTTTTCCTGAGCTGTCAGGAGTCTTTCTGGAGAATCAAAAGAATGACTGAGAAACAATCTCAAAGTTGGTTTGTGGATGTAATTGTGTACAGTCGTTAAACTGAGCAAAAAAAGTCTAGCATTCCTTAACCTGGGCTCTCCAAGGAGGAAGTATCTCTTAGTGTGTTCTGTTTATTCTTATCTCTAAT... | benign | 204,695 |
Evaluate the clinical significance of the mutation at chromosome 12, position 123757911 in gene ATP6V0A2 (ATPase H+ transporting V0 subunit a2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGACAGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAACCGAAAAACAACTCTCTTATTGTTGGCCAACAATATAGCCAACAATAAGAGAGTTTTTAATGTTTTAACAACAATTTTAAAGG... | ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGACAGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAACCGAAAAACAACTCTCTTATTGTTGGCCAACAATATAGCCAACAATAAGAGAGTTTTTAATGTTTTAACAACAATTTTAAAGG... | benign | 204,716 |
Variant chromosome 12, position 131929929, gene PUS1: benign or pathogenic? Disease(s)? | pathogenic; ['Myopathy,_lactic_acidosis,_and_sideroblastic_anemia_1'] | CTCCAGTCATCACGCAGCCCTGTGGTTTCTCTACCTGCATACTCCAGGTGGGCACAGTGCCCCGGCCCCACTGAGTCCTCACCTGTAGGAGAAGGCACAGCCCCTGGAGGGCGGGAGTGGGGCTGCTGCAGACGGCTGTCTCCTGCCTCCTGGCTCTTGCACTGCCAGGAACACGCTCTCCCCAACACCTCCATGGCTCATTCCCCAAATTCAAGCTTGTAGTTGGTTGAATTGTGGCCCCAGAGATGGGATTAAGGATTTTGAGATTATGCCAGATTATCTGCGCGGGCCCAGGATCATATGAGTTTGTCTAAGGGAAA... | CTCCAGTCATCACGCAGCCCTGTGGTTTCTCTACCTGCATACTCCAGGTGGGCACAGTGCCCCGGCCCCACTGAGTCCTCACCTGTAGGAGAAGGCACAGCCCCTGGAGGGCGGGAGTGGGGCTGCTGCAGACGGCTGTCTCCTGCCTCCTGGCTCTTGCACTGCCAGGAACACGCTCTCCCCAACACCTCCATGGCTCATTCCCCAAATTCAAGCTTGTAGTTGGTTGAATTGTGGCCCCAGAGATGGGATTAAGGATTTTGAGATTATGCCAGATTATCTGCGCGGGCCCAGGATCATATGAGTTTGTCTAAGGGAAA... | pathogenic | 204,910 |
Gene PUS1 (pseudouridine synthase 1) variant at chromosome 12, position 131939184—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Myopathy,_lactic_acidosis,_and_sideroblastic_anemia', 'Myopathy,_lactic_acidosis,_and_sideroblastic_anemia_1'] | CCACGTTCCATGTGTGGATCTGGCCAGTGTAACATCTCAACAGTTTATTTTACTCTTTCCAACTTTTTATTTTGAAAATTTCATACCTTCATAAAAGTCTTAAGAATAATGCCATGATTCTTAATAATGCCACATGATTCTTATGTGGGTGCCATGAGCACCCACATAGTCTTCCCAGATTCACCAAGGTTAGGTTTTTACCATATTATCATAGTTGTGTGTGGTTTTTTTAAAAATTCATTTTATTTTATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGTTGGAGTGCAATTGCACGATCTCAACTCACTGCAA... | CCACGTTCCATGTGTGGATCTGGCCAGTGTAACATCTCAACAGTTTATTTTACTCTTTCCAACTTTTTATTTTGAAAATTTCATACCTTCATAAAAGTCTTAAGAATAATGCCATGATTCTTAATAATGCCACATGATTCTTATGTGGGTGCCATGAGCACCCACATAGTCTTCCCAGATTCACCAAGGTTAGGTTTTTACCATATTATCATAGTTGTGTGTGGTTTTTTTAAAAATTCATTTTATTTTATTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGTTGGAGTGCAATTGCACGATCTCAACTCACTGCAA... | pathogenic | 204,925 |
Clinically, how would you classify the variant at chromosome 12, position 131941557, gene PUS1 (pseudouridine synthase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Myopathy,_lactic_acidosis,_and_sideroblastic_anemia_1'] | TGAAAATCCAAATTCATGGTTAAAATGAACAGTTGTTCCCTCTTACGGCAGGACTGGTAAATGGAATTTTTAGGCCTCCTTAAAATGTGACTGTCTACCTTTTAAGTGGCAGGTACAGGCAACTTACATAATACATTCGTTCATTCATTTATTCTGTTTGTTTTTTGAGAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAGTCCTCAGCCTCCTGAGTAACTGGGACTACAGGTGTGTGCCACCACACTTCATTTTTGAGTTTGTAGAGA... | TGAAAATCCAAATTCATGGTTAAAATGAACAGTTGTTCCCTCTTACGGCAGGACTGGTAAATGGAATTTTTAGGCCTCCTTAAAATGTGACTGTCTACCTTTTAAGTGGCAGGTACAGGCAACTTACATAATACATTCGTTCATTCATTTATTCTGTTTGTTTTTTGAGAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAGTCCTCAGCCTCCTGAGTAACTGGGACTACAGGTGTGTGCCACCACACTTCATTTTTGAGTTTGTAGAGA... | pathogenic | 204,935 |
Variant in P2RX2 (purinergic receptor P2X 2), chromosome 12, position 132618993—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ACTGTTAAAACAAAAACTTTGGACAAATTAAATTTAAGAGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGACAGAGTCTCCCTCTGTCATGCAGGCTGGAGTGCAGTGGTGCAATCTCAGTTCACTGCAACCTCCACCTCCCAGATTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGATGCCACAACACCTGGCTAACTTTTGTGTTTTTAGTGGAGACGAGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACCCCTGATCTCAAGTGATCCACCCATGTTGGCCTCC... | ACTGTTAAAACAAAAACTTTGGACAAATTAAATTTAAGAGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGACAGAGTCTCCCTCTGTCATGCAGGCTGGAGTGCAGTGGTGCAATCTCAGTTCACTGCAACCTCCACCTCCCAGATTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGATGCCACAACACCTGGCTAACTTTTGTGTTTTTAGTGGAGACGAGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACCCCTGATCTCAAGTGATCCACCCATGTTGGCCTCC... | benign | 205,004 |
Does the genetic variant at chromosome 12, position 132621877, impacting gene P2RX2 (purinergic receptor P2X 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CCGCCTCCACCCTAGAGCATAAGGGTCCACAACGCCACCTGCCTCTCCGACGCCGACTGCGTGGCTGGGGAGCTGGACATGCTGGGAAACGGTCGGTGTGCGCCAGCTGGGGCTGGGCGGGTGGGGCAGGGCTGCGTCCCCGCTAATGCCTCAGTGACCTCTGCCTCCCAGGCCTGAGGACTGGGCGCTGTGTGCCCTATTACCAGGGGCCCTCCAAGACCTGCGAGGTGTTCGGCTGGTGCCCGGTGGAAGATGGGGCCTCTGTCAGGTGCACCTGCGCCCCGGCCTGGGGCCCAGCCTCCCCTCTGATCCTTTTCCCC... | CCGCCTCCACCCTAGAGCATAAGGGTCCACAACGCCACCTGCCTCTCCGACGCCGACTGCGTGGCTGGGGAGCTGGACATGCTGGGAAACGGTCGGTGTGCGCCAGCTGGGGCTGGGCGGGTGGGGCAGGGCTGCGTCCCCGCTAATGCCTCAGTGACCTCTGCCTCCCAGGCCTGAGGACTGGGCGCTGTGTGCCCTATTACCAGGGGCCCTCCAAGACCTGCGAGGTGTTCGGCTGGTGCCCGGTGGAAGATGGGGCCTCTGTCAGGTGCACCTGCGCCCCGGCCTGGGGCCCAGCCTCCCCTCTGATCCTTTTCCCC... | benign | 205,039 |
The mutation impacting POLE (DNA polymerase epsilon, catalytic subunit) on chromosome 12 at position 132624890: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCAGGCCAGGCGGGGGTGGAAGGACACCAGCCCGGGAGCCAGCACTAACTGCATCAGGGCCTGGGGGTAATCTGGTTACTGCATCCTCAGATGCTGCAGTGGTTAGACTGGTGCCCACTGGGTGGGGGGAGGAGCCCAGAACAGCGTCATGATGTCACCTGTGCCAGTGACAGATGACATCCTGCCTCTGAAGGGAAACCCAGTCTCAGGAGAGCAACACCACGCCCAAAGGTCAAAGAGCGGAGAAGGGCGGGTAAGACGACCCTGGTCTGACCCTAAAGCCTGAGTTTGGAGGTCTCAGCACAACTCCAGAGTCCTCA... | TCAGGCCAGGCGGGGGTGGAAGGACACCAGCCCGGGAGCCAGCACTAACTGCATCAGGGCCTGGGGGTAATCTGGTTACTGCATCCTCAGATGCTGCAGTGGTTAGACTGGTGCCCACTGGGTGGGGGGAGGAGCCCAGAACAGCGTCATGATGTCACCTGTGCCAGTGACAGATGACATCCTGCCTCTGAAGGGAAACCCAGTCTCAGGAGAGCAACACCACGCCCAAAGGTCAAAGAGCGGAGAAGGGCGGGTAAGACGACCCTGGTCTGACCCTAAAGCCTGAGTTTGGAGGTCTCAGCACAACTCCAGAGTCCTCA... | benign | 205,071 |
Evaluate if the mutation on chromosome 12 at position 132625733 in POLE (DNA polymerase epsilon, catalytic subunit) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | AGGGGCCAAACACGTGCCCAGTGGTACCCAGTCCCCGATCTGAGGCGCTCTGCACAAATACACAGTGACAACCTAGAGAAACTTCAGTATGAAATACAAATAAAAACAAAGTGTAGCAGCGATGGCCTCAGACAGTAGATGGCAGGGACAAACTAAGGCTGGCTCTGGGCCAAAGACACGAGCCTCCTGGGGAGCCTGTGGGGCCCCCTCCCTCCTGTGAGGCTCTCGTCTGGGGTGTCTGCATTTCTGATTTACATTTCATACTTGTTTGGTGCCCTGTGAAATTGGCCTTTCTTCTTTCTGCTTCCAGCTGGTCCTGT... | AGGGGCCAAACACGTGCCCAGTGGTACCCAGTCCCCGATCTGAGGCGCTCTGCACAAATACACAGTGACAACCTAGAGAAACTTCAGTATGAAATACAAATAAAAACAAAGTGTAGCAGCGATGGCCTCAGACAGTAGATGGCAGGGACAAACTAAGGCTGGCTCTGGGCCAAAGACACGAGCCTCCTGGGGAGCCTGTGGGGCCCCCTCCCTCCTGTGAGGCTCTCGTCTGGGGTGTCTGCATTTCTGATTTACATTTCATACTTGTTTGGTGCCCTGTGAAATTGGCCTTTCTTCTTTCTGCTTCCAGCTGGTCCTGT... | pathogenic | 205,118 |
Variant in POLE (DNA polymerase epsilon, catalytic subunit), chromosome 12, position 132625789—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AATACACAGTGACAACCTAGAGAAACTTCAGTATGAAATACAAATAAAAACAAAGTGTAGCAGCGATGGCCTCAGACAGTAGATGGCAGGGACAAACTAAGGCTGGCTCTGGGCCAAAGACACGAGCCTCCTGGGGAGCCTGTGGGGCCCCCTCCCTCCTGTGAGGCTCTCGTCTGGGGTGTCTGCATTTCTGATTTACATTTCATACTTGTTTGGTGCCCTGTGAAATTGGCCTTTCTTCTTTCTGCTTCCAGCTGGTCCTGTGTGGAGGTGAAGGACAAGGGCTGCAGTGAGCCAAAAGTGAGGTGCACAGAGGTCTT... | AATACACAGTGACAACCTAGAGAAACTTCAGTATGAAATACAAATAAAAACAAAGTGTAGCAGCGATGGCCTCAGACAGTAGATGGCAGGGACAAACTAAGGCTGGCTCTGGGCCAAAGACACGAGCCTCCTGGGGAGCCTGTGGGGCCCCCTCCCTCCTGTGAGGCTCTCGTCTGGGGTGTCTGCATTTCTGATTTACATTTCATACTTGTTTGGTGCCCTGTGAAATTGGCCTTTCTTCTTTCTGCTTCCAGCTGGTCCTGTGTGGAGGTGAAGGACAAGGGCTGCAGTGAGCCAAAAGTGAGGTGCACAGAGGTCTT... | benign | 205,131 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 132639292, gene POLE (DNA polymerase epsilon, catalytic subunit): what disease(s) if pathogenic? | pathogenic | TAAGGCCTATTATCAATTTAGTGTCAGCCTTTTCTGCAGCGCCCCCAGATGCTACCCCTGTAACCATGCAAAGATCAGACCCATGCAGACTCTCTGTGCCTCCACAAGCAACTCCCCTCTGTGCTCAGAAAGGGCTGCATTCATCCCCAGGGTGAGCGCACCTAGGAGGGAGCTTCCTACTATCAGTTGAACAAAAGTTGCTGGTGGAGATTTTTCTGTTGCTTTGTCTTCTATTTAGATTTAAATAGTGCTGAGTGTGTGAGAAGCACAGCAAGGCCTAGGAGGGAACCTCAGGAACATGGCCTGGAAGGCAGGAAGTC... | TAAGGCCTATTATCAATTTAGTGTCAGCCTTTTCTGCAGCGCCCCCAGATGCTACCCCTGTAACCATGCAAAGATCAGACCCATGCAGACTCTCTGTGCCTCCACAAGCAACTCCCCTCTGTGCTCAGAAAGGGCTGCATTCATCCCCAGGGTGAGCGCACCTAGGAGGGAGCTTCCTACTATCAGTTGAACAAAAGTTGCTGGTGGAGATTTTTCTGTTGCTTTGTCTTCTATTTAGATTTAAATAGTGCTGAGTGTGTGAGAAGCACAGCAAGGCCTAGGAGGGAACCTCAGGAACATGGCCTGGAAGGCAGGAAGTC... | pathogenic | 205,368 |
Is the genetic mutation found on chromosome 12 at position 132642483, within the gene POLE (DNA polymerase epsilon, catalytic subunit), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CACAGGTCACACAAAAGCCACAAGGGCGTGTGCCAGTGTAAACAAGTTTCCCGTTCCGGGGGGCCCTGGTCACAGGCCAGACAGCTAGGCATTGGCCAGTGCACTGTACACGCCCTGTCTGGCCCCCTTCACTTCCCATGGGGCAGAGATGCCAGCTGCTCTGGTACTGGAACCCCAATTCAGCTAAAGGATTCCAAAACTGCACATCACCCTACTGAAGAAGCGGGAACTTCAATGGGGTCAAGAACAGAATGTTACAAGAGAACCTACAGAGGTCCAAGTCCCATTCCTAAAACTCCCTTTCATCACAAACTCTTCAA... | CACAGGTCACACAAAAGCCACAAGGGCGTGTGCCAGTGTAAACAAGTTTCCCGTTCCGGGGGGCCCTGGTCACAGGCCAGACAGCTAGGCATTGGCCAGTGCACTGTACACGCCCTGTCTGGCCCCCTTCACTTCCCATGGGGCAGAGATGCCAGCTGCTCTGGTACTGGAACCCCAATTCAGCTAAAGGATTCCAAAACTGCACATCACCCTACTGAAGAAGCGGGAACTTCAATGGGGTCAAGAACAGAATGTTACAAGAGAACCTACAGAGGTCCAAGTCCCATTCCTAAAACTCCCTTTCATCACAAACTCTTCAA... | benign | 205,458 |
Clinical classification of chromosome 12, position 132642486, gene POLE (DNA polymerase epsilon, catalytic subunit): benign or pathogenic? Disease(s) if pathogenic? | benign | AGGTCACACAAAAGCCACAAGGGCGTGTGCCAGTGTAAACAAGTTTCCCGTTCCGGGGGGCCCTGGTCACAGGCCAGACAGCTAGGCATTGGCCAGTGCACTGTACACGCCCTGTCTGGCCCCCTTCACTTCCCATGGGGCAGAGATGCCAGCTGCTCTGGTACTGGAACCCCAATTCAGCTAAAGGATTCCAAAACTGCACATCACCCTACTGAAGAAGCGGGAACTTCAATGGGGTCAAGAACAGAATGTTACAAGAGAACCTACAGAGGTCCAAGTCCCATTCCTAAAACTCCCTTTCATCACAAACTCTTCAATAA... | AGGTCACACAAAAGCCACAAGGGCGTGTGCCAGTGTAAACAAGTTTCCCGTTCCGGGGGGCCCTGGTCACAGGCCAGACAGCTAGGCATTGGCCAGTGCACTGTACACGCCCTGTCTGGCCCCCTTCACTTCCCATGGGGCAGAGATGCCAGCTGCTCTGGTACTGGAACCCCAATTCAGCTAAAGGATTCCAAAACTGCACATCACCCTACTGAAGAAGCGGGAACTTCAATGGGGTCAAGAACAGAATGTTACAAGAGAACCTACAGAGGTCCAAGTCCCATTCCTAAAACTCCCTTTCATCACAAACTCTTCAATAA... | benign | 205,459 |
The genetic variant at chromosome 12, position 132642741, affecting gene POLE (DNA polymerase epsilon, catalytic subunit): benign or pathogenic? Disease name(s) if pathogenic? | benign | AAGAGAACCTACAGAGGTCCAAGTCCCATTCCTAAAACTCCCTTTCATCACAAACTCTTCAATAATTTGGCAAACCCCACATTCTCCAGAGCGGCAGTTTGGGTATCTGCTGTTGGACTCCTTCTACCTTTCAGGCCTGGGCTACTGTCTCTCTGCCAAGACCCTGCTCCCGGCTCCCAACTGCCTCCCTGCCTCTTTCCACCAGTCCTCTCCCTGCCTCATTTCCCAGCTCTGGCATGCTCCCTCTCCCCTTTTGTATGGAGTCATTAAAACTACAGCTGAGTACAGGCTCTGGAATTACAAAGACTTGTTTTTGAGCA... | AAGAGAACCTACAGAGGTCCAAGTCCCATTCCTAAAACTCCCTTTCATCACAAACTCTTCAATAATTTGGCAAACCCCACATTCTCCAGAGCGGCAGTTTGGGTATCTGCTGTTGGACTCCTTCTACCTTTCAGGCCTGGGCTACTGTCTCTCTGCCAAGACCCTGCTCCCGGCTCCCAACTGCCTCCCTGCCTCTTTCCACCAGTCCTCTCCCTGCCTCATTTCCCAGCTCTGGCATGCTCCCTCTCCCCTTTTGTATGGAGTCATTAAAACTACAGCTGAGTACAGGCTCTGGAATTACAAAGACTTGTTTTTGAGCA... | benign | 205,509 |
Does the genetic variant at chromosome 12, position 132642746, impacting gene POLE (DNA polymerase epsilon, catalytic subunit), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AACCTACAGAGGTCCAAGTCCCATTCCTAAAACTCCCTTTCATCACAAACTCTTCAATAATTTGGCAAACCCCACATTCTCCAGAGCGGCAGTTTGGGTATCTGCTGTTGGACTCCTTCTACCTTTCAGGCCTGGGCTACTGTCTCTCTGCCAAGACCCTGCTCCCGGCTCCCAACTGCCTCCCTGCCTCTTTCCACCAGTCCTCTCCCTGCCTCATTTCCCAGCTCTGGCATGCTCCCTCTCCCCTTTTGTATGGAGTCATTAAAACTACAGCTGAGTACAGGCTCTGGAATTACAAAGACTTGTTTTTGAGCACCTAC... | AACCTACAGAGGTCCAAGTCCCATTCCTAAAACTCCCTTTCATCACAAACTCTTCAATAATTTGGCAAACCCCACATTCTCCAGAGCGGCAGTTTGGGTATCTGCTGTTGGACTCCTTCTACCTTTCAGGCCTGGGCTACTGTCTCTCTGCCAAGACCCTGCTCCCGGCTCCCAACTGCCTCCCTGCCTCTTTCCACCAGTCCTCTCCCTGCCTCATTTCCCAGCTCTGGCATGCTCCCTCTCCCCTTTTGTATGGAGTCATTAAAACTACAGCTGAGTACAGGCTCTGGAATTACAAAGACTTGTTTTTGAGCACCTAC... | benign | 205,511 |
Is the variant located on chromosome 12 at position 132642798, gene POLE (DNA polymerase epsilon, catalytic subunit), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TTCAATAATTTGGCAAACCCCACATTCTCCAGAGCGGCAGTTTGGGTATCTGCTGTTGGACTCCTTCTACCTTTCAGGCCTGGGCTACTGTCTCTCTGCCAAGACCCTGCTCCCGGCTCCCAACTGCCTCCCTGCCTCTTTCCACCAGTCCTCTCCCTGCCTCATTTCCCAGCTCTGGCATGCTCCCTCTCCCCTTTTGTATGGAGTCATTAAAACTACAGCTGAGTACAGGCTCTGGAATTACAAAGACTTGTTTTTGAGCACCTACCCTTCCATTCATTTGTGGTATGACCACAAAGGCAGCCCCTCTGACCTCAGTT... | TTCAATAATTTGGCAAACCCCACATTCTCCAGAGCGGCAGTTTGGGTATCTGCTGTTGGACTCCTTCTACCTTTCAGGCCTGGGCTACTGTCTCTCTGCCAAGACCCTGCTCCCGGCTCCCAACTGCCTCCCTGCCTCTTTCCACCAGTCCTCTCCCTGCCTCATTTCCCAGCTCTGGCATGCTCCCTCTCCCCTTTTGTATGGAGTCATTAAAACTACAGCTGAGTACAGGCTCTGGAATTACAAAGACTTGTTTTTGAGCACCTACCCTTCCATTCATTTGTGGTATGACCACAAAGGCAGCCCCTCTGACCTCAGTT... | benign | 205,512 |
Benign or pathogenic: chromosome 12, position 132649898, gene POLE (DNA polymerase epsilon, catalytic subunit) variant? Disease(s) if pathogenic? | benign | CACCTCGGTCTCCCAAAGTGCGGGGATTACAGGTGTGAACCACCACACCTGGCTCTGCGTCTACTTTCTATATGCACATTCTACTGAATCACCTGGCTGGAATCGAGTTTCACCTTCTCCAGAAAACCTCCTTGTGTAGGTACAAATATGCACACCTCATCTCCCCAACTACGTGTCACTTCTTACGTGATTCACAGCATCCAGTCAAGAAATGTGCTGAGCCGACACATTAACAACGGGGAGTTCGGGTGGAGATGCCATCTAAGAGCCTCAGCGCACTCATGGCCACATGAAAACCCTCGCAGTTTCTGCAGGTGGAA... | CACCTCGGTCTCCCAAAGTGCGGGGATTACAGGTGTGAACCACCACACCTGGCTCTGCGTCTACTTTCTATATGCACATTCTACTGAATCACCTGGCTGGAATCGAGTTTCACCTTCTCCAGAAAACCTCCTTGTGTAGGTACAAATATGCACACCTCATCTCCCCAACTACGTGTCACTTCTTACGTGATTCACAGCATCCAGTCAAGAAATGTGCTGAGCCGACACATTAACAACGGGGAGTTCGGGTGGAGATGCCATCTAAGAGCCTCAGCGCACTCATGGCCACATGAAAACCCTCGCAGTTTCTGCAGGTGGAA... | benign | 205,781 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 132657119, gene POLE (DNA polymerase epsilon, catalytic subunit): what disease(s) if pathogenic? | benign | CCTTTATAACTCTTTATAACTTCTGTCTACTTCCTCTGATGGATCTGTTGTTCTCTAACTTTTTCAGTTGGAAACTTAATTTTCTATTTGTTTTTCTTTACTAATACATGCATTTAGATATATAAATGCGTATACAAGTCCTGTTTAACTGCATACTACAAATTTTAATAGCATTTGTATTTACATTCAGTTCCAAGTATTGTCTAAGTTCTATGACTTTTTTGATCCACAAGTTATAAATGTGTTTTTTTTTTCTTAAATTTCCAAACATGGTCTGTATTTAAGTTATCTAGAATTGGTTGCAGCTTACTCTGTGGTAT... | CCTTTATAACTCTTTATAACTTCTGTCTACTTCCTCTGATGGATCTGTTGTTCTCTAACTTTTTCAGTTGGAAACTTAATTTTCTATTTGTTTTTCTTTACTAATACATGCATTTAGATATATAAATGCGTATACAAGTCCTGTTTAACTGCATACTACAAATTTTAATAGCATTTGTATTTACATTCAGTTCCAAGTATTGTCTAAGTTCTATGACTTTTTTGATCCACAAGTTATAAATGTGTTTTTTTTTTCTTAAATTTCCAAACATGGTCTGTATTTAAGTTATCTAGAATTGGTTGCAGCTTACTCTGTGGTAT... | benign | 205,788 |
Variant at chromosome position 132659206, chromosome 12, gene POLE (DNA polymerase epsilon, catalytic subunit): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AAGAGCTCACTGATCTTCTTCTGCTTGTAGACATCATTCTTCTCCAGCAGTTTTTTGTGCAGCCAGTCGGGGTGTTTGACACGTGGCACTGGGTTCTTTACCTGTGTGAGGCCAACACCCATCAGAGAGAGACCCTTGTCTAACTGCACAGTTTTTAGCCCCACAGCCCGTGCCACTGACCCCGCCCTTACCTGCTGCAGGGCCGCAGGGATGGTGATGATCTTCTGGATGGCGCTTCCCAGCCGCTCAATGTAGTAGTCCCAATCCAGAATCTGCATGTGCAGGAAACGGGCACAGAGAACAGCAGGTGGCAGCAGCCA... | AAGAGCTCACTGATCTTCTTCTGCTTGTAGACATCATTCTTCTCCAGCAGTTTTTTGTGCAGCCAGTCGGGGTGTTTGACACGTGGCACTGGGTTCTTTACCTGTGTGAGGCCAACACCCATCAGAGAGAGACCCTTGTCTAACTGCACAGTTTTTAGCCCCACAGCCCGTGCCACTGACCCCGCCCTTACCTGCTGCAGGGCCGCAGGGATGGTGATGATCTTCTGGATGGCGCTTCCCAGCCGCTCAATGTAGTAGTCCCAATCCAGAATCTGCATGTGCAGGAAACGGGCACAGAGAACAGCAGGTGGCAGCAGCCA... | benign | 205,858 |
Is the genetic change at chromosome 12, position 132659257, within gene POLE (DNA polymerase epsilon, catalytic subunit) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTTTTGTGCAGCCAGTCGGGGTGTTTGACACGTGGCACTGGGTTCTTTACCTGTGTGAGGCCAACACCCATCAGAGAGAGACCCTTGTCTAACTGCACAGTTTTTAGCCCCACAGCCCGTGCCACTGACCCCGCCCTTACCTGCTGCAGGGCCGCAGGGATGGTGATGATCTTCTGGATGGCGCTTCCCAGCCGCTCAATGTAGTAGTCCCAATCCAGAATCTGCATGTGCAGGAAACGGGCACAGAGAACAGCAGGTGGCAGCAGCCAAGAGTGGGGCTCACTTCATGCTGAGCACAGGGCTAACCACTGTGTCTTATT... | TTTTTGTGCAGCCAGTCGGGGTGTTTGACACGTGGCACTGGGTTCTTTACCTGTGTGAGGCCAACACCCATCAGAGAGAGACCCTTGTCTAACTGCACAGTTTTTAGCCCCACAGCCCGTGCCACTGACCCCGCCCTTACCTGCTGCAGGGCCGCAGGGATGGTGATGATCTTCTGGATGGCGCTTCCCAGCCGCTCAATGTAGTAGTCCCAATCCAGAATCTGCATGTGCAGGAAACGGGCACAGAGAACAGCAGGTGGCAGCAGCCAAGAGTGGGGCTCACTTCATGCTGAGCACAGGGCTAACCACTGTGTCTTATT... | benign | 205,859 |
The genetic variant at chromosome 12, position 132659257, affecting gene POLE (DNA polymerase epsilon, catalytic subunit): benign or pathogenic? Disease name(s) if pathogenic? | benign | TTTTTGTGCAGCCAGTCGGGGTGTTTGACACGTGGCACTGGGTTCTTTACCTGTGTGAGGCCAACACCCATCAGAGAGAGACCCTTGTCTAACTGCACAGTTTTTAGCCCCACAGCCCGTGCCACTGACCCCGCCCTTACCTGCTGCAGGGCCGCAGGGATGGTGATGATCTTCTGGATGGCGCTTCCCAGCCGCTCAATGTAGTAGTCCCAATCCAGAATCTGCATGTGCAGGAAACGGGCACAGAGAACAGCAGGTGGCAGCAGCCAAGAGTGGGGCTCACTTCATGCTGAGCACAGGGCTAACCACTGTGTCTTATT... | TTTTTGTGCAGCCAGTCGGGGTGTTTGACACGTGGCACTGGGTTCTTTACCTGTGTGAGGCCAACACCCATCAGAGAGAGACCCTTGTCTAACTGCACAGTTTTTAGCCCCACAGCCCGTGCCACTGACCCCGCCCTTACCTGCTGCAGGGCCGCAGGGATGGTGATGATCTTCTGGATGGCGCTTCCCAGCCGCTCAATGTAGTAGTCCCAATCCAGAATCTGCATGTGCAGGAAACGGGCACAGAGAACAGCAGGTGGCAGCAGCCAAGAGTGGGGCTCACTTCATGCTGAGCACAGGGCTAACCACTGTGTCTTATT... | benign | 205,860 |
Regarding the variant found on chromosome 12 at position 132659279 in gene POLE (DNA polymerase epsilon, catalytic subunit): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GTTTGACACGTGGCACTGGGTTCTTTACCTGTGTGAGGCCAACACCCATCAGAGAGAGACCCTTGTCTAACTGCACAGTTTTTAGCCCCACAGCCCGTGCCACTGACCCCGCCCTTACCTGCTGCAGGGCCGCAGGGATGGTGATGATCTTCTGGATGGCGCTTCCCAGCCGCTCAATGTAGTAGTCCCAATCCAGAATCTGCATGTGCAGGAAACGGGCACAGAGAACAGCAGGTGGCAGCAGCCAAGAGTGGGGCTCACTTCATGCTGAGCACAGGGCTAACCACTGTGTCTTATTTAATCCTCTCAGAAACTCTATG... | GTTTGACACGTGGCACTGGGTTCTTTACCTGTGTGAGGCCAACACCCATCAGAGAGAGACCCTTGTCTAACTGCACAGTTTTTAGCCCCACAGCCCGTGCCACTGACCCCGCCCTTACCTGCTGCAGGGCCGCAGGGATGGTGATGATCTTCTGGATGGCGCTTCCCAGCCGCTCAATGTAGTAGTCCCAATCCAGAATCTGCATGTGCAGGAAACGGGCACAGAGAACAGCAGGTGGCAGCAGCCAAGAGTGGGGCTCACTTCATGCTGAGCACAGGGCTAACCACTGTGTCTTATTTAATCCTCTCAGAAACTCTATG... | benign | 205,862 |
The genetic variant at chromosome 12, position 132661167, affecting gene POLE (DNA polymerase epsilon, catalytic subunit): benign or pathogenic? Disease name(s) if pathogenic? | benign | CCAAACTTGGTGTTAAACACAGCCCAAATCTGTAAGGAACCCCTTACCTCTCCGTGACAGGGCAGCCCTCACCTCTCTGTGATGAGGGGAGCCCTCACCTCTCCGTGACGGAGGGAGCCCTCACCTGTCCGTGATGGGAGGAGCCCTCACCTCTCCGTGATGGGGGGAGCCCTCACCTCTCCGTGACAGGGGAGCCCTCGGGCTTGCGGGAGATGATGTAGCGGCAACTCAGCCCTGCATCCTTGACCATCTGGTCTCCCAGGAACTCGGCCAGGCGCTTTGCTGTGCTGATGGACGTAGACTTCTGCTCCCCGTAATCT... | CCAAACTTGGTGTTAAACACAGCCCAAATCTGTAAGGAACCCCTTACCTCTCCGTGACAGGGCAGCCCTCACCTCTCTGTGATGAGGGGAGCCCTCACCTCTCCGTGACGGAGGGAGCCCTCACCTGTCCGTGATGGGAGGAGCCCTCACCTCTCCGTGATGGGGGGAGCCCTCACCTCTCCGTGACAGGGGAGCCCTCGGGCTTGCGGGAGATGATGTAGCGGCAACTCAGCCCTGCATCCTTGACCATCTGGTCTCCCAGGAACTCGGCCAGGCGCTTTGCTGTGCTGATGGACGTAGACTTCTGCTCCCCGTAATCT... | benign | 205,955 |
Variant at chromosome position 132661167, chromosome 12, gene POLE (DNA polymerase epsilon, catalytic subunit): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CCAAACTTGGTGTTAAACACAGCCCAAATCTGTAAGGAACCCCTTACCTCTCCGTGACAGGGCAGCCCTCACCTCTCTGTGATGAGGGGAGCCCTCACCTCTCCGTGACGGAGGGAGCCCTCACCTGTCCGTGATGGGAGGAGCCCTCACCTCTCCGTGATGGGGGGAGCCCTCACCTCTCCGTGACAGGGGAGCCCTCGGGCTTGCGGGAGATGATGTAGCGGCAACTCAGCCCTGCATCCTTGACCATCTGGTCTCCCAGGAACTCGGCCAGGCGCTTTGCTGTGCTGATGGACGTAGACTTCTGCTCCCCGTAATCT... | CCAAACTTGGTGTTAAACACAGCCCAAATCTGTAAGGAACCCCTTACCTCTCCGTGACAGGGCAGCCCTCACCTCTCTGTGATGAGGGGAGCCCTCACCTCTCCGTGACGGAGGGAGCCCTCACCTGTCCGTGATGGGAGGAGCCCTCACCTCTCCGTGATGGGGGGAGCCCTCACCTCTCCGTGACAGGGGAGCCCTCGGGCTTGCGGGAGATGATGTAGCGGCAACTCAGCCCTGCATCCTTGACCATCTGGTCTCCCAGGAACTCGGCCAGGCGCTTTGCTGTGCTGATGGACGTAGACTTCTGCTCCCCGTAATCT... | benign | 205,956 |
Variant in POLE (DNA polymerase epsilon, catalytic subunit), chromosome 12, position 132661167—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | CCAAACTTGGTGTTAAACACAGCCCAAATCTGTAAGGAACCCCTTACCTCTCCGTGACAGGGCAGCCCTCACCTCTCTGTGATGAGGGGAGCCCTCACCTCTCCGTGACGGAGGGAGCCCTCACCTGTCCGTGATGGGAGGAGCCCTCACCTCTCCGTGATGGGGGGAGCCCTCACCTCTCCGTGACAGGGGAGCCCTCGGGCTTGCGGGAGATGATGTAGCGGCAACTCAGCCCTGCATCCTTGACCATCTGGTCTCCCAGGAACTCGGCCAGGCGCTTTGCTGTGCTGATGGACGTAGACTTCTGCTCCCCGTAATCT... | CCAAACTTGGTGTTAAACACAGCCCAAATCTGTAAGGAACCCCTTACCTCTCCGTGACAGGGCAGCCCTCACCTCTCTGTGATGAGGGGAGCCCTCACCTCTCCGTGACGGAGGGAGCCCTCACCTGTCCGTGATGGGAGGAGCCCTCACCTCTCCGTGATGGGGGGAGCCCTCACCTCTCCGTGACAGGGGAGCCCTCGGGCTTGCGGGAGATGATGTAGCGGCAACTCAGCCCTGCATCCTTGACCATCTGGTCTCCCAGGAACTCGGCCAGGCGCTTTGCTGTGCTGATGGACGTAGACTTCTGCTCCCCGTAATCT... | benign | 205,957 |
Is the genetic mutation found on chromosome 12 at position 132661167, within the gene POLE (DNA polymerase epsilon, catalytic subunit), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CCAAACTTGGTGTTAAACACAGCCCAAATCTGTAAGGAACCCCTTACCTCTCCGTGACAGGGCAGCCCTCACCTCTCTGTGATGAGGGGAGCCCTCACCTCTCCGTGACGGAGGGAGCCCTCACCTGTCCGTGATGGGAGGAGCCCTCACCTCTCCGTGATGGGGGGAGCCCTCACCTCTCCGTGACAGGGGAGCCCTCGGGCTTGCGGGAGATGATGTAGCGGCAACTCAGCCCTGCATCCTTGACCATCTGGTCTCCCAGGAACTCGGCCAGGCGCTTTGCTGTGCTGATGGACGTAGACTTCTGCTCCCCGTAATCT... | CCAAACTTGGTGTTAAACACAGCCCAAATCTGTAAGGAACCCCTTACCTCTCCGTGACAGGGCAGCCCTCACCTCTCTGTGATGAGGGGAGCCCTCACCTCTCCGTGACGGAGGGAGCCCTCACCTGTCCGTGATGGGAGGAGCCCTCACCTCTCCGTGATGGGGGGAGCCCTCACCTCTCCGTGACAGGGGAGCCCTCGGGCTTGCGGGAGATGATGTAGCGGCAACTCAGCCCTGCATCCTTGACCATCTGGTCTCCCAGGAACTCGGCCAGGCGCTTTGCTGTGCTGATGGACGTAGACTTCTGCTCCCCGTAATCT... | benign | 205,958 |
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