question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Regarding the variant at chromosome 3 and position 149009277, affecting gene GYG1 (glycogenin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Glycogen_storage_disease_XV', 'Polyglucosan_body_myopathy_type_2'] | TGACCTAATCACCTTCCAAAGACCCCACTCCAGATACCATCAACTTTGGGGTTAGGATTTCAATGTAGGAATTTTGGGGTATCTAAACATTGAGTCCATTGCATTTTTATAACAGTGAAGCATATTCTGTTGCCATCTTTATTGTCCTTTAGAACTTATAAGAGTGAAACTGATTTTCTGTTGTTCGTCCTTTGAGGAACAGAGACCTGTCAGGGGTGCTGTTTAAGGAGGGGTTTCCTCAAGACAATAAGTGAACGCCTTTGATTCTTAGAGTTGATTGAAGGTATTTGGAAAGGATAGAATACGCAGAGGGTGGATAA... | TGACCTAATCACCTTCCAAAGACCCCACTCCAGATACCATCAACTTTGGGGTTAGGATTTCAATGTAGGAATTTTGGGGTATCTAAACATTGAGTCCATTGCATTTTTATAACAGTGAAGCATATTCTGTTGCCATCTTTATTGTCCTTTAGAACTTATAAGAGTGAAACTGATTTTCTGTTGTTCGTCCTTTGAGGAACAGAGACCTGTCAGGGGTGCTGTTTAAGGAGGGGTTTCCTCAAGACAATAAGTGAACGCCTTTGATTCTTAGAGTTGATTGAAGGTATTTGGAAAGGATAGAATACGCAGAGGGTGGATAA... | pathogenic | 75,555 |
Clinically, how would you classify the variant at chromosome 3, position 149026452, gene GYG1 (glycogenin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Glycogen_storage_disease_XV', 'Polyglucosan_body_myopathy_type_2'] | TAACCATCTTAGGAGAAACATTACCAGCAAGAAGTAGCAGAAATAAACTGTGTGGCAGATTTCTTTGGATCTGAGAACACAGTTATTTAGAATTTTCTGTATATACCCATATATTTTAACTTTAGAATTCTTAGCCCATTCTCCTCTGAAAAGATTTTGAGATTATTCCTAAAGTAGTGGTCTATAAAAACAACACCCCATTGAATGTTTTAGGAACTGCAAACATTTAGATGTATCTACTTTATATTTGCCATCTGCTTAGAAGAATGTGTTTTCAGTGAAAATGACAATATGAACATACAGTAAATACTTCTATAGGA... | TAACCATCTTAGGAGAAACATTACCAGCAAGAAGTAGCAGAAATAAACTGTGTGGCAGATTTCTTTGGATCTGAGAACACAGTTATTTAGAATTTTCTGTATATACCCATATATTTTAACTTTAGAATTCTTAGCCCATTCTCCTCTGAAAAGATTTTGAGATTATTCCTAAAGTAGTGGTCTATAAAAACAACACCCCATTGAATGTTTTAGGAACTGCAAACATTTAGATGTATCTACTTTATATTTGCCATCTGCTTAGAAGAATGTGTTTTCAGTGAAAATGACAATATGAACATACAGTAAATACTTCTATAGGA... | pathogenic | 75,561 |
For chromosome 3, position 149129799, gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | TTGAATCTGTAACCTCCAATACCTCAGAATGTGACTGTATATAGAGATAGGGCCTTTAAGAAATAATTAAGGTTAAATAAGATCATAAGGGTGGGTCCTAATCTAATATGGCTGGTATCTTTATAAGACAAGGGAAGGACACCAGGGATGCAGGCACACAGAGGAAAGACCATAGGAACACATAATAAAAAGGTAGTCATCTTCAAGCCAAGGAGAAGGGGCTTCAGGAGAAACCATACCTGCTGACATCTTATCTTGGACTTCTAGCCTCCAGACCTGTGAAAATGAAATATCTATTGTGTAAGCCACCCAGTCTGTGG... | TTGAATCTGTAACCTCCAATACCTCAGAATGTGACTGTATATAGAGATAGGGCCTTTAAGAAATAATTAAGGTTAAATAAGATCATAAGGGTGGGTCCTAATCTAATATGGCTGGTATCTTTATAAGACAAGGGAAGGACACCAGGGATGCAGGCACACAGAGGAAAGACCATAGGAACACATAATAAAAAGGTAGTCATCTTCAAGCCAAGGAGAAGGGGCTTCAGGAGAAACCATACCTGCTGACATCTTATCTTGGACTTCTAGCCTCCAGACCTGTGAAAATGAAATATCTATTGTGTAAGCCACCCAGTCTGTGG... | pathogenic | 75,577 |
Mutation at chromosome 3, position 149129804, within HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | TCTGTAACCTCCAATACCTCAGAATGTGACTGTATATAGAGATAGGGCCTTTAAGAAATAATTAAGGTTAAATAAGATCATAAGGGTGGGTCCTAATCTAATATGGCTGGTATCTTTATAAGACAAGGGAAGGACACCAGGGATGCAGGCACACAGAGGAAAGACCATAGGAACACATAATAAAAAGGTAGTCATCTTCAAGCCAAGGAGAAGGGGCTTCAGGAGAAACCATACCTGCTGACATCTTATCTTGGACTTCTAGCCTCCAGACCTGTGAAAATGAAATATCTATTGTGTAAGCCACCCAGTCTGTGGTGTTT... | TCTGTAACCTCCAATACCTCAGAATGTGACTGTATATAGAGATAGGGCCTTTAAGAAATAATTAAGGTTAAATAAGATCATAAGGGTGGGTCCTAATCTAATATGGCTGGTATCTTTATAAGACAAGGGAAGGACACCAGGGATGCAGGCACACAGAGGAAAGACCATAGGAACACATAATAAAAAGGTAGTCATCTTCAAGCCAAGGAGAAGGGGCTTCAGGAGAAACCATACCTGCTGACATCTTATCTTGGACTTCTAGCCTCCAGACCTGTGAAAATGAAATATCTATTGTGTAAGCCACCCAGTCTGTGGTGTTT... | pathogenic | 75,578 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 149129807, gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1): what disease(s) if pathogenic? | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | GTAACCTCCAATACCTCAGAATGTGACTGTATATAGAGATAGGGCCTTTAAGAAATAATTAAGGTTAAATAAGATCATAAGGGTGGGTCCTAATCTAATATGGCTGGTATCTTTATAAGACAAGGGAAGGACACCAGGGATGCAGGCACACAGAGGAAAGACCATAGGAACACATAATAAAAAGGTAGTCATCTTCAAGCCAAGGAGAAGGGGCTTCAGGAGAAACCATACCTGCTGACATCTTATCTTGGACTTCTAGCCTCCAGACCTGTGAAAATGAAATATCTATTGTGTAAGCCACCCAGTCTGTGGTGTTTTGT... | GTAACCTCCAATACCTCAGAATGTGACTGTATATAGAGATAGGGCCTTTAAGAAATAATTAAGGTTAAATAAGATCATAAGGGTGGGTCCTAATCTAATATGGCTGGTATCTTTATAAGACAAGGGAAGGACACCAGGGATGCAGGCACACAGAGGAAAGACCATAGGAACACATAATAAAAAGGTAGTCATCTTCAAGCCAAGGAGAAGGGGCTTCAGGAGAAACCATACCTGCTGACATCTTATCTTGGACTTCTAGCCTCCAGACCTGTGAAAATGAAATATCTATTGTGTAAGCCACCCAGTCTGTGGTGTTTTGT... | pathogenic | 75,579 |
Assess the variant on chromosome 3, position 149140029, impacting HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | CGTACTACAATAAAAAAAATTTATTTATTTACTGGGGGAATTTTAGGAAGATGGAGGCCTCAACTTCATCCCAACTCTGTCCAAACTGCTTCCCTGGAAAAGTGAACAAACTTAGGGCACCTGCAGGATCTCTTTAGGCATTCTACGATCTCCAGGGAAAGAACAGGTTCAGGCTCCATCTCTGTGGCATAAAAAGAACCATCATCAGGAGAAAGCTTGCTACCTGTAGAAGTCAGGATCATTTTGGAGGAGGGAGCCTGGTCAGCCCAGTGAATGTCTGCAGAAAGGGGCAGCACCTGTTTGCTTGCCTCATAAGTACA... | CGTACTACAATAAAAAAAATTTATTTATTTACTGGGGGAATTTTAGGAAGATGGAGGCCTCAACTTCATCCCAACTCTGTCCAAACTGCTTCCCTGGAAAAGTGAACAAACTTAGGGCACCTGCAGGATCTCTTTAGGCATTCTACGATCTCCAGGGAAAGAACAGGTTCAGGCTCCATCTCTGTGGCATAAAAAGAACCATCATCAGGAGAAAGCTTGCTACCTGTAGAAGTCAGGATCATTTTGGAGGAGGGAGCCTGGTCAGCCCAGTGAATGTCTGCAGAAAGGGGCAGCACCTGTTTGCTTGCCTCATAAGTACA... | pathogenic | 75,587 |
Variant on chromosome 3, at position 149140031, affecting HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | TACTACAATAAAAAAAATTTATTTATTTACTGGGGGAATTTTAGGAAGATGGAGGCCTCAACTTCATCCCAACTCTGTCCAAACTGCTTCCCTGGAAAAGTGAACAAACTTAGGGCACCTGCAGGATCTCTTTAGGCATTCTACGATCTCCAGGGAAAGAACAGGTTCAGGCTCCATCTCTGTGGCATAAAAAGAACCATCATCAGGAGAAAGCTTGCTACCTGTAGAAGTCAGGATCATTTTGGAGGAGGGAGCCTGGTCAGCCCAGTGAATGTCTGCAGAAAGGGGCAGCACCTGTTTGCTTGCCTCATAAGTACATG... | TACTACAATAAAAAAAATTTATTTATTTACTGGGGGAATTTTAGGAAGATGGAGGCCTCAACTTCATCCCAACTCTGTCCAAACTGCTTCCCTGGAAAAGTGAACAAACTTAGGGCACCTGCAGGATCTCTTTAGGCATTCTACGATCTCCAGGGAAAGAACAGGTTCAGGCTCCATCTCTGTGGCATAAAAAGAACCATCATCAGGAGAAAGCTTGCTACCTGTAGAAGTCAGGATCATTTTGGAGGAGGGAGCCTGGTCAGCCCAGTGAATGTCTGCAGAAAGGGGCAGCACCTGTTTGCTTGCCTCATAAGTACATG... | pathogenic | 75,588 |
For chromosome 3, position 149140179, gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | TCCAGGGAAAGAACAGGTTCAGGCTCCATCTCTGTGGCATAAAAAGAACCATCATCAGGAGAAAGCTTGCTACCTGTAGAAGTCAGGATCATTTTGGAGGAGGGAGCCTGGTCAGCCCAGTGAATGTCTGCAGAAAGGGGCAGCACCTGTTTGCTTGCCTCATAAGTACATGGGAAGTCAATGTAATGGCAGCATTTCAATTTCAATTCATCGGAAAAGGGCCAATTTGCTTAATAGTGTTAATATAATAGAGTCTACATTTGGAAGAAGTGACATTAGATCCTCTGACTTATCTCCTTCTTTACCCGCAAAATTCTAAA... | TCCAGGGAAAGAACAGGTTCAGGCTCCATCTCTGTGGCATAAAAAGAACCATCATCAGGAGAAAGCTTGCTACCTGTAGAAGTCAGGATCATTTTGGAGGAGGGAGCCTGGTCAGCCCAGTGAATGTCTGCAGAAAGGGGCAGCACCTGTTTGCTTGCCTCATAAGTACATGGGAAGTCAATGTAATGGCAGCATTTCAATTTCAATTCATCGGAAAAGGGCCAATTTGCTTAATAGTGTTAATATAATAGAGTCTACATTTGGAAGAAGTGACATTAGATCCTCTGACTTATCTCCTTCTTTACCCGCAAAATTCTAAA... | pathogenic | 75,590 |
Gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1) variant at chromosome position 149140187 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | AAGAACAGGTTCAGGCTCCATCTCTGTGGCATAAAAAGAACCATCATCAGGAGAAAGCTTGCTACCTGTAGAAGTCAGGATCATTTTGGAGGAGGGAGCCTGGTCAGCCCAGTGAATGTCTGCAGAAAGGGGCAGCACCTGTTTGCTTGCCTCATAAGTACATGGGAAGTCAATGTAATGGCAGCATTTCAATTTCAATTCATCGGAAAAGGGCCAATTTGCTTAATAGTGTTAATATAATAGAGTCTACATTTGGAAGAAGTGACATTAGATCCTCTGACTTATCTCCTTCTTTACCCGCAAAATTCTAAAGATTAAAA... | AAGAACAGGTTCAGGCTCCATCTCTGTGGCATAAAAAGAACCATCATCAGGAGAAAGCTTGCTACCTGTAGAAGTCAGGATCATTTTGGAGGAGGGAGCCTGGTCAGCCCAGTGAATGTCTGCAGAAAGGGGCAGCACCTGTTTGCTTGCCTCATAAGTACATGGGAAGTCAATGTAATGGCAGCATTTCAATTTCAATTCATCGGAAAAGGGCCAATTTGCTTAATAGTGTTAATATAATAGAGTCTACATTTGGAAGAAGTGACATTAGATCCTCTGACTTATCTCCTTCTTTACCCGCAAAATTCTAAAGATTAAAA... | pathogenic | 75,591 |
Clinical significance of chromosome 3, position 149140374, gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | TTCAATTTCAATTCATCGGAAAAGGGCCAATTTGCTTAATAGTGTTAATATAATAGAGTCTACATTTGGAAGAAGTGACATTAGATCCTCTGACTTATCTCCTTCTTTACCCGCAAAATTCTAAAGATTAAAAATGTATATTTTCTAAACCTCCACTAAAATAGAAGAAAATATAGGAGCATATTTATGTAATTTGGAGGACATGGATGGGAACTCAGAAGGCAAGGAGGAAAAGATACATATAGTATACTCTAAATAAAAAGGGTATGGTAAAACATGCCATCAGCAAAGTCAAAATCAGAAAATAGACTCTAAAACCA... | TTCAATTTCAATTCATCGGAAAAGGGCCAATTTGCTTAATAGTGTTAATATAATAGAGTCTACATTTGGAAGAAGTGACATTAGATCCTCTGACTTATCTCCTTCTTTACCCGCAAAATTCTAAAGATTAAAAATGTATATTTTCTAAACCTCCACTAAAATAGAAGAAAATATAGGAGCATATTTATGTAATTTGGAGGACATGGATGGGAACTCAGAAGGCAAGGAGGAAAAGATACATATAGTATACTCTAAATAAAAAGGGTATGGTAAAACATGCCATCAGCAAAGTCAAAATCAGAAAATAGACTCTAAAACCA... | pathogenic | 75,594 |
Variant on chromosome 3, at position 149140438, affecting HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | TTTGGAAGAAGTGACATTAGATCCTCTGACTTATCTCCTTCTTTACCCGCAAAATTCTAAAGATTAAAAATGTATATTTTCTAAACCTCCACTAAAATAGAAGAAAATATAGGAGCATATTTATGTAATTTGGAGGACATGGATGGGAACTCAGAAGGCAAGGAGGAAAAGATACATATAGTATACTCTAAATAAAAAGGGTATGGTAAAACATGCCATCAGCAAAGTCAAAATCAGAAAATAGACTCTAAAACCATTTACTATTTATAGACGACAAAAGGTTTATATCCCTTTTAAGTAGAGAGCTACAGTGTCATGAT... | TTTGGAAGAAGTGACATTAGATCCTCTGACTTATCTCCTTCTTTACCCGCAAAATTCTAAAGATTAAAAATGTATATTTTCTAAACCTCCACTAAAATAGAAGAAAATATAGGAGCATATTTATGTAATTTGGAGGACATGGATGGGAACTCAGAAGGCAAGGAGGAAAAGATACATATAGTATACTCTAAATAAAAAGGGTATGGTAAAACATGCCATCAGCAAAGTCAAAATCAGAAAATAGACTCTAAAACCATTTACTATTTATAGACGACAAAAGGTTTATATCCCTTTTAAGTAGAGAGCTACAGTGTCATGAT... | pathogenic | 75,595 |
A genetic alteration at chromosome 3, position 149141032, in gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_3'] | ATGCCCTTTGGCCCAACATATCTCACTTTTGGGAATCTGTACCGTTAAAATAAATCCCCCAGTAAATAAATATATAGATATAAGCCTATGTATTACTATGAAACATAGTGGCAAAAAACCCTGGAAATATATTTGAATGCTTATCAGTAAGGGAATTATTGAATAAATTATGCGTATGTATGTACATATGGGATGTTGAACATATTGAAAAGGATGTTAGATATCCATGTATCAGCCTGGAGGGAGAGATTTATTAATAATTTTTAAAAGTTGCAGATTGTTAAATATATTTAATATGATTACATTTTAGTTTTTGTTCA... | ATGCCCTTTGGCCCAACATATCTCACTTTTGGGAATCTGTACCGTTAAAATAAATCCCCCAGTAAATAAATATATAGATATAAGCCTATGTATTACTATGAAACATAGTGGCAAAAAACCCTGGAAATATATTTGAATGCTTATCAGTAAGGGAATTATTGAATAAATTATGCGTATGTATGTACATATGGGATGTTGAACATATTGAAAAGGATGTTAGATATCCATGTATCAGCCTGGAGGGAGAGATTTATTAATAATTTTTAAAAGTTGCAGATTGTTAAATATATTTAATATGATTACATTTTAGTTTTTGTTCA... | pathogenic | 75,599 |
Is the variant located on chromosome 3 at position 149141153, gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['HPS3-related_disorder', 'Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_3'] | TGGAAATATATTTGAATGCTTATCAGTAAGGGAATTATTGAATAAATTATGCGTATGTATGTACATATGGGATGTTGAACATATTGAAAAGGATGTTAGATATCCATGTATCAGCCTGGAGGGAGAGATTTATTAATAATTTTTAAAAGTTGCAGATTGTTAAATATATTTAATATGATTACATTTTAGTTTTTGTTCATTTTTAAAAAAGACAGAATACCTCTCTGTGATCTCTGTTTATATGAGAGAAAGGTGTTGAAAGGCACATACCAGGCTGTGTGTTAACATTGGGTCCTCAAGGGGGAGATCATTATGCTTTT... | TGGAAATATATTTGAATGCTTATCAGTAAGGGAATTATTGAATAAATTATGCGTATGTATGTACATATGGGATGTTGAACATATTGAAAAGGATGTTAGATATCCATGTATCAGCCTGGAGGGAGAGATTTATTAATAATTTTTAAAAGTTGCAGATTGTTAAATATATTTAATATGATTACATTTTAGTTTTTGTTCATTTTTAAAAAAGACAGAATACCTCTCTGTGATCTCTGTTTATATGAGAGAAAGGTGTTGAAAGGCACATACCAGGCTGTGTGTTAACATTGGGTCCTCAAGGGGGAGATCATTATGCTTTT... | pathogenic | 75,602 |
Variant chromosome 3, position 149141200, gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1): benign or pathogenic? Disease(s)? | benign | TATGCGTATGTATGTACATATGGGATGTTGAACATATTGAAAAGGATGTTAGATATCCATGTATCAGCCTGGAGGGAGAGATTTATTAATAATTTTTAAAAGTTGCAGATTGTTAAATATATTTAATATGATTACATTTTAGTTTTTGTTCATTTTTAAAAAAGACAGAATACCTCTCTGTGATCTCTGTTTATATGAGAGAAAGGTGTTGAAAGGCACATACCAGGCTGTGTGTTAACATTGGGTCCTCAAGGGGGAGATCATTATGCTTTTCATTTTGCATCTCTTTACCACGTTACCATTTTGACTTCCCACAACCA... | TATGCGTATGTATGTACATATGGGATGTTGAACATATTGAAAAGGATGTTAGATATCCATGTATCAGCCTGGAGGGAGAGATTTATTAATAATTTTTAAAAGTTGCAGATTGTTAAATATATTTAATATGATTACATTTTAGTTTTTGTTCATTTTTAAAAAAGACAGAATACCTCTCTGTGATCTCTGTTTATATGAGAGAAAGGTGTTGAAAGGCACATACCAGGCTGTGTGTTAACATTGGGTCCTCAAGGGGGAGATCATTATGCTTTTCATTTTGCATCTCTTTACCACGTTACCATTTTGACTTCCCACAACCA... | benign | 75,604 |
Is the genetic change at chromosome 3, position 149141200, within gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TATGCGTATGTATGTACATATGGGATGTTGAACATATTGAAAAGGATGTTAGATATCCATGTATCAGCCTGGAGGGAGAGATTTATTAATAATTTTTAAAAGTTGCAGATTGTTAAATATATTTAATATGATTACATTTTAGTTTTTGTTCATTTTTAAAAAAGACAGAATACCTCTCTGTGATCTCTGTTTATATGAGAGAAAGGTGTTGAAAGGCACATACCAGGCTGTGTGTTAACATTGGGTCCTCAAGGGGGAGATCATTATGCTTTTCATTTTGCATCTCTTTACCACGTTACCATTTTGACTTCCCACAACCA... | TATGCGTATGTATGTACATATGGGATGTTGAACATATTGAAAAGGATGTTAGATATCCATGTATCAGCCTGGAGGGAGAGATTTATTAATAATTTTTAAAAGTTGCAGATTGTTAAATATATTTAATATGATTACATTTTAGTTTTTGTTCATTTTTAAAAAAGACAGAATACCTCTCTGTGATCTCTGTTTATATGAGAGAAAGGTGTTGAAAGGCACATACCAGGCTGTGTGTTAACATTGGGTCCTCAAGGGGGAGATCATTATGCTTTTCATTTTGCATCTCTTTACCACGTTACCATTTTGACTTCCCACAACCA... | benign | 75,605 |
Chromosome 3, position 149145377, gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | TCTCAGCCTTGTGTGACTGGTGCATTTAAGTCATTCAGTTCGCAGCTGAAGTGTAACTTCATGACGGAGGACTTCTCTGACCTCTCAATTTAAAATATCCCTTCTCCACTCACACTGGAGTTTACTTGTTTACTCTCCATCCCAATCCCCATCACTAGAATGAAGGCTCTGTGAAAGCAGTTACGTTGTTTTGAACACTGTTGTATCCCTAGAATCTGGAACAGCAGCACTTAGTAGGTACCTGATGAATGCTGACTGAATAGACGAATGGATGGGTCATATGTATTTGAGCTGGGCCGTAATGGATGATAGAGATTTTG... | TCTCAGCCTTGTGTGACTGGTGCATTTAAGTCATTCAGTTCGCAGCTGAAGTGTAACTTCATGACGGAGGACTTCTCTGACCTCTCAATTTAAAATATCCCTTCTCCACTCACACTGGAGTTTACTTGTTTACTCTCCATCCCAATCCCCATCACTAGAATGAAGGCTCTGTGAAAGCAGTTACGTTGTTTTGAACACTGTTGTATCCCTAGAATCTGGAACAGCAGCACTTAGTAGGTACCTGATGAATGCTGACTGAATAGACGAATGGATGGGTCATATGTATTTGAGCTGGGCCGTAATGGATGATAGAGATTTTG... | pathogenic | 75,609 |
Chromosome 3, position 149145439, gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | GACGGAGGACTTCTCTGACCTCTCAATTTAAAATATCCCTTCTCCACTCACACTGGAGTTTACTTGTTTACTCTCCATCCCAATCCCCATCACTAGAATGAAGGCTCTGTGAAAGCAGTTACGTTGTTTTGAACACTGTTGTATCCCTAGAATCTGGAACAGCAGCACTTAGTAGGTACCTGATGAATGCTGACTGAATAGACGAATGGATGGGTCATATGTATTTGAGCTGGGCCGTAATGGATGATAGAGATTTTGGAAAGATATTACATAATGGGAACCAACATTATATGAGGTGTAAAATTATGTGTATTTGGAGA... | GACGGAGGACTTCTCTGACCTCTCAATTTAAAATATCCCTTCTCCACTCACACTGGAGTTTACTTGTTTACTCTCCATCCCAATCCCCATCACTAGAATGAAGGCTCTGTGAAAGCAGTTACGTTGTTTTGAACACTGTTGTATCCCTAGAATCTGGAACAGCAGCACTTAGTAGGTACCTGATGAATGCTGACTGAATAGACGAATGGATGGGTCATATGTATTTGAGCTGGGCCGTAATGGATGATAGAGATTTTGGAAAGATATTACATAATGGGAACCAACATTATATGAGGTGTAAAATTATGTGTATTTGGAGA... | pathogenic | 75,610 |
Determine if the mutation at chromosome 3, position 149150620 in gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | TTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGACTGGTCTGGAACTCCAGACCTCAGGCAATTCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCATTTTTTTTTTTTTGTTGTTGTTTTTACAATGCATGTACTACTATGCCTTATTTATTACAGAAATTGATCATGCTCTGTCCACTGTTCAGCAACTTGCTATTTTACATAGCAGCATATCTTGGACATCTTTCAATGCCAGCACATTTCAGTTTATTCTTTCTCTAGTATACATTTCTGCTTAGGATT... | TTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGACTGGTCTGGAACTCCAGACCTCAGGCAATTCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCATTTTTTTTTTTTTGTTGTTGTTTTTACAATGCATGTACTACTATGCCTTATTTATTACAGAAATTGATCATGCTCTGTCCACTGTTCAGCAACTTGCTATTTTACATAGCAGCATATCTTGGACATCTTTCAATGCCAGCACATTTCAGTTTATTCTTTCTCTAGTATACATTTCTGCTTAGGATT... | pathogenic | 75,616 |
The genetic variant at chromosome 3, position 149153494, affecting gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | GATTTATTTATACTATTATCAGCTATGCCTGTAATTCTGTATTTTATAAGCCTTTGATAACCTTCTATACTTAATCGAAGAGTTAATGGTTATGGTAGATCAATAATCTCATTTTTAGTGAGAAGTAAAGTGCTTGGTTTCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCTCTTGACCACAGAATAAATGTAGGCATTATTATGTTGAGATTCGGTGTTTTCTGACTTTGAATTTCTGTTCTCAGAAATACACTGATCATTTACATTATATTGATCTATGTTATTTTACTTCTGAAGTATAAGCTATTTGAATTGG... | GATTTATTTATACTATTATCAGCTATGCCTGTAATTCTGTATTTTATAAGCCTTTGATAACCTTCTATACTTAATCGAAGAGTTAATGGTTATGGTAGATCAATAATCTCATTTTTAGTGAGAAGTAAAGTGCTTGGTTTCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCTCTTGACCACAGAATAAATGTAGGCATTATTATGTTGAGATTCGGTGTTTTCTGACTTTGAATTTCTGTTCTCAGAAATACACTGATCATTTACATTATATTGATCTATGTTATTTTACTTCTGAAGTATAAGCTATTTGAATTGG... | pathogenic | 75,624 |
A genetic variant on chromosome 3, position 149153576, affects the gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | TTAATGGTTATGGTAGATCAATAATCTCATTTTTAGTGAGAAGTAAAGTGCTTGGTTTCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCTCTTGACCACAGAATAAATGTAGGCATTATTATGTTGAGATTCGGTGTTTTCTGACTTTGAATTTCTGTTCTCAGAAATACACTGATCATTTACATTATATTGATCTATGTTATTTTACTTCTGAAGTATAAGCTATTTGAATTGGATATTTGTTAGGAATATACATGCTGCAAGAAGCTCCCAAATTATCATGCTCTGTGTTTCAAAAATTGGTTTATATCTGTCTG... | TTAATGGTTATGGTAGATCAATAATCTCATTTTTAGTGAGAAGTAAAGTGCTTGGTTTCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCTCTTGACCACAGAATAAATGTAGGCATTATTATGTTGAGATTCGGTGTTTTCTGACTTTGAATTTCTGTTCTCAGAAATACACTGATCATTTACATTATATTGATCTATGTTATTTTACTTCTGAAGTATAAGCTATTTGAATTGGATATTTGTTAGGAATATACATGCTGCAAGAAGCTCCCAAATTATCATGCTCTGTGTTTCAAAAATTGGTTTATATCTGTCTG... | pathogenic | 75,625 |
Considering the genetic mutation at chromosome 3, position 149157387, impacting HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | ACAGTGGAATGTATATCTCTCTCTGCCTCCTCATTGTTACAGCTTCTGACATCCGAGGAACCAGTAGAAATTCCCTTCACTAGCATAAGACTCCCTTATTCATACCCACTCTCCTAAGAAGATCGATTGGCCAATCTGAACATAGTCTTTGACCTTAATTTGAACTCTAGCAAAGATAGCTAAGAAATGGAGCAAATAAATAAATAAATAAATAAATCTAGGATTATGTATCCCTGTCCCACTCTTCTTATTTAGAAATGTTAGCACATTGTCCCAGGGCACCACAGCTACTGCAGCATTGTCCTGGGGGGAGGGACCCA... | ACAGTGGAATGTATATCTCTCTCTGCCTCCTCATTGTTACAGCTTCTGACATCCGAGGAACCAGTAGAAATTCCCTTCACTAGCATAAGACTCCCTTATTCATACCCACTCTCCTAAGAAGATCGATTGGCCAATCTGAACATAGTCTTTGACCTTAATTTGAACTCTAGCAAAGATAGCTAAGAAATGGAGCAAATAAATAAATAAATAAATAAATCTAGGATTATGTATCCCTGTCCCACTCTTCTTATTTAGAAATGTTAGCACATTGTCCCAGGGCACCACAGCTACTGCAGCATTGTCCTGGGGGGAGGGACCCA... | pathogenic | 75,635 |
Does the variant impacting HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1) on chromosome 3, position 149157399, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | ATATCTCTCTCTGCCTCCTCATTGTTACAGCTTCTGACATCCGAGGAACCAGTAGAAATTCCCTTCACTAGCATAAGACTCCCTTATTCATACCCACTCTCCTAAGAAGATCGATTGGCCAATCTGAACATAGTCTTTGACCTTAATTTGAACTCTAGCAAAGATAGCTAAGAAATGGAGCAAATAAATAAATAAATAAATAAATCTAGGATTATGTATCCCTGTCCCACTCTTCTTATTTAGAAATGTTAGCACATTGTCCCAGGGCACCACAGCTACTGCAGCATTGTCCTGGGGGGAGGGACCCAGAGGGAGCATCC... | ATATCTCTCTCTGCCTCCTCATTGTTACAGCTTCTGACATCCGAGGAACCAGTAGAAATTCCCTTCACTAGCATAAGACTCCCTTATTCATACCCACTCTCCTAAGAAGATCGATTGGCCAATCTGAACATAGTCTTTGACCTTAATTTGAACTCTAGCAAAGATAGCTAAGAAATGGAGCAAATAAATAAATAAATAAATAAATCTAGGATTATGTATCCCTGTCCCACTCTTCTTATTTAGAAATGTTAGCACATTGTCCCAGGGCACCACAGCTACTGCAGCATTGTCCTGGGGGGAGGGACCCAGAGGGAGCATCC... | pathogenic | 75,636 |
Determine if the mutation at chromosome 3, position 149157469 in gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | GCATAAGACTCCCTTATTCATACCCACTCTCCTAAGAAGATCGATTGGCCAATCTGAACATAGTCTTTGACCTTAATTTGAACTCTAGCAAAGATAGCTAAGAAATGGAGCAAATAAATAAATAAATAAATAAATCTAGGATTATGTATCCCTGTCCCACTCTTCTTATTTAGAAATGTTAGCACATTGTCCCAGGGCACCACAGCTACTGCAGCATTGTCCTGGGGGGAGGGACCCAGAGGGAGCATCCTTACTGATCTAAGAGTGACAGCTTCCTACTCATCCCTGGCAATTATTTTAACTCTTTATTTTGAAACAAT... | GCATAAGACTCCCTTATTCATACCCACTCTCCTAAGAAGATCGATTGGCCAATCTGAACATAGTCTTTGACCTTAATTTGAACTCTAGCAAAGATAGCTAAGAAATGGAGCAAATAAATAAATAAATAAATAAATCTAGGATTATGTATCCCTGTCCCACTCTTCTTATTTAGAAATGTTAGCACATTGTCCCAGGGCACCACAGCTACTGCAGCATTGTCCTGGGGGGAGGGACCCAGAGGGAGCATCCTTACTGATCTAAGAGTGACAGCTTCCTACTCATCCCTGGCAATTATTTTAACTCTTTATTTTGAAACAAT... | pathogenic | 75,638 |
Clinical significance of chromosome 3, position 149157520, gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | ATCTGAACATAGTCTTTGACCTTAATTTGAACTCTAGCAAAGATAGCTAAGAAATGGAGCAAATAAATAAATAAATAAATAAATCTAGGATTATGTATCCCTGTCCCACTCTTCTTATTTAGAAATGTTAGCACATTGTCCCAGGGCACCACAGCTACTGCAGCATTGTCCTGGGGGGAGGGACCCAGAGGGAGCATCCTTACTGATCTAAGAGTGACAGCTTCCTACTCATCCCTGGCAATTATTTTAACTCTTTATTTTGAAACAATTTCAAACTTACAGAAAAGTTGCAAGAATAAGTATATTCTTCCCAACCCTTT... | ATCTGAACATAGTCTTTGACCTTAATTTGAACTCTAGCAAAGATAGCTAAGAAATGGAGCAAATAAATAAATAAATAAATAAATCTAGGATTATGTATCCCTGTCCCACTCTTCTTATTTAGAAATGTTAGCACATTGTCCCAGGGCACCACAGCTACTGCAGCATTGTCCTGGGGGGAGGGACCCAGAGGGAGCATCCTTACTGATCTAAGAGTGACAGCTTCCTACTCATCCCTGGCAATTATTTTAACTCTTTATTTTGAAACAATTTCAAACTTACAGAAAAGTTGCAAGAATAAGTATATTCTTCCCAACCCTTT... | pathogenic | 75,639 |
Evaluate the clinical significance of the mutation at chromosome 3, position 149158814 in gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | TTATATTAGCTGTGCCCTGTCTTTTCAGTCTTGCTTAATTGAAAGTCTTCGTTTAGGTGATTTGACCGCTAGAGTCTGAATATATTGATTGAGTCAGATTAGCTAGTGATAATTTTTATGAGCCCTCTATGAGTTATGGAAATAGATGTAGTAGAGCCTAAACTTACCAATCAAAACTAAAATAAGGGAAGAATACTCAGTCTAAATTTGAGAAAGAATTAAATCACAATTTTTTGAAGTTTATTTCAAATATTAACATGTTCACTAGTCTTACTGAGATCAAATTGTTGCTAAGTTTACAGTATTATTAGTATTACAGT... | TTATATTAGCTGTGCCCTGTCTTTTCAGTCTTGCTTAATTGAAAGTCTTCGTTTAGGTGATTTGACCGCTAGAGTCTGAATATATTGATTGAGTCAGATTAGCTAGTGATAATTTTTATGAGCCCTCTATGAGTTATGGAAATAGATGTAGTAGAGCCTAAACTTACCAATCAAAACTAAAATAAGGGAAGAATACTCAGTCTAAATTTGAGAAAGAATTAAATCACAATTTTTTGAAGTTTATTTCAAATATTAACATGTTCACTAGTCTTACTGAGATCAAATTGTTGCTAAGTTTACAGTATTATTAGTATTACAGT... | pathogenic | 75,646 |
Regarding the variant at chromosome 3 and position 149158839, affecting gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | CAGTCTTGCTTAATTGAAAGTCTTCGTTTAGGTGATTTGACCGCTAGAGTCTGAATATATTGATTGAGTCAGATTAGCTAGTGATAATTTTTATGAGCCCTCTATGAGTTATGGAAATAGATGTAGTAGAGCCTAAACTTACCAATCAAAACTAAAATAAGGGAAGAATACTCAGTCTAAATTTGAGAAAGAATTAAATCACAATTTTTTGAAGTTTATTTCAAATATTAACATGTTCACTAGTCTTACTGAGATCAAATTGTTGCTAAGTTTACAGTATTATTAGTATTACAGTATTATTTGGACCTCTGTAATGATTA... | CAGTCTTGCTTAATTGAAAGTCTTCGTTTAGGTGATTTGACCGCTAGAGTCTGAATATATTGATTGAGTCAGATTAGCTAGTGATAATTTTTATGAGCCCTCTATGAGTTATGGAAATAGATGTAGTAGAGCCTAAACTTACCAATCAAAACTAAAATAAGGGAAGAATACTCAGTCTAAATTTGAGAAAGAATTAAATCACAATTTTTTGAAGTTTATTTCAAATATTAACATGTTCACTAGTCTTACTGAGATCAAATTGTTGCTAAGTTTACAGTATTATTAGTATTACAGTATTATTTGGACCTCTGTAATGATTA... | pathogenic | 75,648 |
A genetic variant at chromosome 3, position 149160253, affecting gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | CAGACTTACTTGATCCACATGAATGGTTAAAAATTAATAAAACAGACTTTTCCTCCTATAAACACCATTATTTTAGAGTCCGATCATGAATATTAGAATTAACTTAAATTGTTGTTTTTGTTTCTATTATGAGCAGGCAAAAAGAAACTGCATTAATTAGAAGTTTGTAAGATAAAACTTAGGAGTTTGTTTCAGTTACTAATGGCAGTAGAAAAGCATTTTGGAATTTCTATCTTCTGGAAAGCATGATATATTCTGTTATAGAATGTTTTAGATATCCAGGTTTAAAAATTCCAAATTTGACTAGGCATGGTGGCTTA... | CAGACTTACTTGATCCACATGAATGGTTAAAAATTAATAAAACAGACTTTTCCTCCTATAAACACCATTATTTTAGAGTCCGATCATGAATATTAGAATTAACTTAAATTGTTGTTTTTGTTTCTATTATGAGCAGGCAAAAAGAAACTGCATTAATTAGAAGTTTGTAAGATAAAACTTAGGAGTTTGTTTCAGTTACTAATGGCAGTAGAAAAGCATTTTGGAATTTCTATCTTCTGGAAAGCATGATATATTCTGTTATAGAATGTTTTAGATATCCAGGTTTAAAAATTCCAAATTTGACTAGGCATGGTGGCTTA... | pathogenic | 75,653 |
Clinical significance of chromosome 3, position 149162247, gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_3'] | GTGACATTGACCAAGGCAGCAGTGGCTCTGAAAATGGGAGATCTTGACATGCACAGAAATGAAATGAAAAGCCATTCAGAGGTATGGAGCTCTGCCCGGTGCTAACAGAAGGCTGAAATAGGACCTGGTAATCCTGAAGTGTTTAGCTGTCTTCTGGCTTCTTTCTAGCTTATATATTCTTGGTTGTAATGGAAAACAGACAATATTAGAAACAAAGTGATCCAAATGGGACTTCGGATCTGGCAAATGAAAAATAAATAAGACTGATAAATGACAGCAGTGGATATACAAAGACTTCAACTTAGTGTCAAGTGCGTTCA... | GTGACATTGACCAAGGCAGCAGTGGCTCTGAAAATGGGAGATCTTGACATGCACAGAAATGAAATGAAAAGCCATTCAGAGGTATGGAGCTCTGCCCGGTGCTAACAGAAGGCTGAAATAGGACCTGGTAATCCTGAAGTGTTTAGCTGTCTTCTGGCTTCTTTCTAGCTTATATATTCTTGGTTGTAATGGAAAACAGACAATATTAGAAACAAAGTGATCCAAATGGGACTTCGGATCTGGCAAATGAAAAATAAATAAGACTGATAAATGACAGCAGTGGATATACAAAGACTTCAACTTAGTGTCAAGTGCGTTCA... | pathogenic | 75,659 |
A genetic variant at chromosome 3, position 149162324, affecting gene HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | AGAGGTATGGAGCTCTGCCCGGTGCTAACAGAAGGCTGAAATAGGACCTGGTAATCCTGAAGTGTTTAGCTGTCTTCTGGCTTCTTTCTAGCTTATATATTCTTGGTTGTAATGGAAAACAGACAATATTAGAAACAAAGTGATCCAAATGGGACTTCGGATCTGGCAAATGAAAAATAAATAAGACTGATAAATGACAGCAGTGGATATACAAAGACTTCAACTTAGTGTCAAGTGCGTTCAGAGCACTGAGCTTGGTACTAAAGAACAGGCTCTGCTCCGAGGGGACGATGTGATCTGGCATGAGGGATATGGTGTGT... | AGAGGTATGGAGCTCTGCCCGGTGCTAACAGAAGGCTGAAATAGGACCTGGTAATCCTGAAGTGTTTAGCTGTCTTCTGGCTTCTTTCTAGCTTATATATTCTTGGTTGTAATGGAAAACAGACAATATTAGAAACAAAGTGATCCAAATGGGACTTCGGATCTGGCAAATGAAAAATAAATAAGACTGATAAATGACAGCAGTGGATATACAAAGACTTCAACTTAGTGTCAAGTGCGTTCAGAGCACTGAGCTTGGTACTAAAGAACAGGCTCTGCTCCGAGGGGACGATGTGATCTGGCATGAGGGATATGGTGTGT... | pathogenic | 75,661 |
Variant in gene CP, located at chromosome 3 position 149162714: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | TAGTAGTTGCAGAAATAGCCCCCGCTTGGGAAAATCACAGATTAAGAGGATTGGACATTTGAATGGTATACCAAGAAACACAGGCTTTCCCTTGGAAAAGAGGTCATTTAGGGACACTACCAAAGGTGTTAATCATTTAAGCGAAGAAAATAGGAGGTAGTGTAATTGAACACTTATTATTTACCAGGCCTATTCTAAGCTCCTTGCATATATCATTTAATTCTTAATACTGCTATAGGGTAGGAGTATTATACAAATGAGGAAATTAAGACACAGAGAGGTTAAGTAACTCATCAGGATCACACAGCAGTTAAGTTGTA... | TAGTAGTTGCAGAAATAGCCCCCGCTTGGGAAAATCACAGATTAAGAGGATTGGACATTTGAATGGTATACCAAGAAACACAGGCTTTCCCTTGGAAAAGAGGTCATTTAGGGACACTACCAAAGGTGTTAATCATTTAAGCGAAGAAAATAGGAGGTAGTGTAATTGAACACTTATTATTTACCAGGCCTATTCTAAGCTCCTTGCATATATCATTTAATTCTTAATACTGCTATAGGGTAGGAGTATTATACAAATGAGGAAATTAAGACACAGAGAGGTTAAGTAACTCATCAGGATCACACAGCAGTTAAGTTGTA... | pathogenic | 75,664 |
The genetic variant at chromosome 3, position 149162737, affecting gene CP: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | GCTTGGGAAAATCACAGATTAAGAGGATTGGACATTTGAATGGTATACCAAGAAACACAGGCTTTCCCTTGGAAAAGAGGTCATTTAGGGACACTACCAAAGGTGTTAATCATTTAAGCGAAGAAAATAGGAGGTAGTGTAATTGAACACTTATTATTTACCAGGCCTATTCTAAGCTCCTTGCATATATCATTTAATTCTTAATACTGCTATAGGGTAGGAGTATTATACAAATGAGGAAATTAAGACACAGAGAGGTTAAGTAACTCATCAGGATCACACAGCAGTTAAGTTGTAGAGCCAGAATTGAATCGGGCAGC... | GCTTGGGAAAATCACAGATTAAGAGGATTGGACATTTGAATGGTATACCAAGAAACACAGGCTTTCCCTTGGAAAAGAGGTCATTTAGGGACACTACCAAAGGTGTTAATCATTTAAGCGAAGAAAATAGGAGGTAGTGTAATTGAACACTTATTATTTACCAGGCCTATTCTAAGCTCCTTGCATATATCATTTAATTCTTAATACTGCTATAGGGTAGGAGTATTATACAAATGAGGAAATTAAGACACAGAGAGGTTAAGTAACTCATCAGGATCACACAGCAGTTAAGTTGTAGAGCCAGAATTGAATCGGGCAGC... | pathogenic | 75,665 |
Mutation found at chromosome 3 position 149162819, gene CP: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | ATTTAGGGACACTACCAAAGGTGTTAATCATTTAAGCGAAGAAAATAGGAGGTAGTGTAATTGAACACTTATTATTTACCAGGCCTATTCTAAGCTCCTTGCATATATCATTTAATTCTTAATACTGCTATAGGGTAGGAGTATTATACAAATGAGGAAATTAAGACACAGAGAGGTTAAGTAACTCATCAGGATCACACAGCAGTTAAGTTGTAGAGCCAGAATTGAATCGGGCAGCCTGATTTCAGAATCTGTGCTCCTGCACTGTTTTCTTGCCAGACTGGCCAAAGCCCACAGTATGACTTGGGTTGCTAAAAAAG... | ATTTAGGGACACTACCAAAGGTGTTAATCATTTAAGCGAAGAAAATAGGAGGTAGTGTAATTGAACACTTATTATTTACCAGGCCTATTCTAAGCTCCTTGCATATATCATTTAATTCTTAATACTGCTATAGGGTAGGAGTATTATACAAATGAGGAAATTAAGACACAGAGAGGTTAAGTAACTCATCAGGATCACACAGCAGTTAAGTTGTAGAGCCAGAATTGAATCGGGCAGCCTGATTTCAGAATCTGTGCTCCTGCACTGTTTTCTTGCCAGACTGGCCAAAGCCCACAGTATGACTTGGGTTGCTAAAAAAG... | pathogenic | 75,666 |
The genetic variant at chromosome 3, position 149162859, affecting gene CP: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_3'] | GAAAATAGGAGGTAGTGTAATTGAACACTTATTATTTACCAGGCCTATTCTAAGCTCCTTGCATATATCATTTAATTCTTAATACTGCTATAGGGTAGGAGTATTATACAAATGAGGAAATTAAGACACAGAGAGGTTAAGTAACTCATCAGGATCACACAGCAGTTAAGTTGTAGAGCCAGAATTGAATCGGGCAGCCTGATTTCAGAATCTGTGCTCCTGCACTGTTTTCTTGCCAGACTGGCCAAAGCCCACAGTATGACTTGGGTTGCTAAAAAAGGAAGAACGTAAGTGCTTTATCACTATACAAATGACATGCT... | GAAAATAGGAGGTAGTGTAATTGAACACTTATTATTTACCAGGCCTATTCTAAGCTCCTTGCATATATCATTTAATTCTTAATACTGCTATAGGGTAGGAGTATTATACAAATGAGGAAATTAAGACACAGAGAGGTTAAGTAACTCATCAGGATCACACAGCAGTTAAGTTGTAGAGCCAGAATTGAATCGGGCAGCCTGATTTCAGAATCTGTGCTCCTGCACTGTTTTCTTGCCAGACTGGCCAAAGCCCACAGTATGACTTGGGTTGCTAAAAAAGGAAGAACGTAAGTGCTTTATCACTATACAAATGACATGCT... | pathogenic | 75,668 |
Benign or pathogenic: chromosome 3, position 149167176, gene CP variant? Disease(s) if pathogenic? | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | GCTTCTGAGGGGCTAGCCTCAGATTTTGTTCATTTCACGAATATTGCTTGAGCATGTGCTGTAGATGTATGGGGAGCATTGGACAAGACAGATGGAGCTTTGCCTTCCTAGATCATACACACTAATTACATATTTAAAATTGTAATTGGAATAAGTGCTATTAAATTTTCCCTGATAAAGCTTTAAAGCATATTTATAATCATTGCTTGAAAAAGTATAATTCAGTGATCTTTTAAAATTTGTTTTAAAATATTTTAAAAGGAAAATATTTGCTATTAAAGGAGGAAAATCTTTGCTATTAAAGGAGCAAAATCTTTGCT... | GCTTCTGAGGGGCTAGCCTCAGATTTTGTTCATTTCACGAATATTGCTTGAGCATGTGCTGTAGATGTATGGGGAGCATTGGACAAGACAGATGGAGCTTTGCCTTCCTAGATCATACACACTAATTACATATTTAAAATTGTAATTGGAATAAGTGCTATTAAATTTTCCCTGATAAAGCTTTAAAGCATATTTATAATCATTGCTTGAAAAAGTATAATTCAGTGATCTTTTAAAATTTGTTTTAAAATATTTTAAAAGGAAAATATTTGCTATTAAAGGAGGAAAATCTTTGCTATTAAAGGAGCAAAATCTTTGCT... | pathogenic | 75,685 |
Variant at chromosome position 149167179, chromosome 3, gene CP: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic | TCTGAGGGGCTAGCCTCAGATTTTGTTCATTTCACGAATATTGCTTGAGCATGTGCTGTAGATGTATGGGGAGCATTGGACAAGACAGATGGAGCTTTGCCTTCCTAGATCATACACACTAATTACATATTTAAAATTGTAATTGGAATAAGTGCTATTAAATTTTCCCTGATAAAGCTTTAAAGCATATTTATAATCATTGCTTGAAAAAGTATAATTCAGTGATCTTTTAAAATTTGTTTTAAAATATTTTAAAAGGAAAATATTTGCTATTAAAGGAGGAAAATCTTTGCTATTAAAGGAGCAAAATCTTTGCTGTT... | TCTGAGGGGCTAGCCTCAGATTTTGTTCATTTCACGAATATTGCTTGAGCATGTGCTGTAGATGTATGGGGAGCATTGGACAAGACAGATGGAGCTTTGCCTTCCTAGATCATACACACTAATTACATATTTAAAATTGTAATTGGAATAAGTGCTATTAAATTTTCCCTGATAAAGCTTTAAAGCATATTTATAATCATTGCTTGAAAAAGTATAATTCAGTGATCTTTTAAAATTTGTTTTAAAATATTTTAAAAGGAAAATATTTGCTATTAAAGGAGGAAAATCTTTGCTATTAAAGGAGCAAAATCTTTGCTGTT... | pathogenic | 75,686 |
Chromosome 3, position 149167179, gene CP: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | TCTGAGGGGCTAGCCTCAGATTTTGTTCATTTCACGAATATTGCTTGAGCATGTGCTGTAGATGTATGGGGAGCATTGGACAAGACAGATGGAGCTTTGCCTTCCTAGATCATACACACTAATTACATATTTAAAATTGTAATTGGAATAAGTGCTATTAAATTTTCCCTGATAAAGCTTTAAAGCATATTTATAATCATTGCTTGAAAAAGTATAATTCAGTGATCTTTTAAAATTTGTTTTAAAATATTTTAAAAGGAAAATATTTGCTATTAAAGGAGGAAAATCTTTGCTATTAAAGGAGCAAAATCTTTGCTGTT... | TCTGAGGGGCTAGCCTCAGATTTTGTTCATTTCACGAATATTGCTTGAGCATGTGCTGTAGATGTATGGGGAGCATTGGACAAGACAGATGGAGCTTTGCCTTCCTAGATCATACACACTAATTACATATTTAAAATTGTAATTGGAATAAGTGCTATTAAATTTTCCCTGATAAAGCTTTAAAGCATATTTATAATCATTGCTTGAAAAAGTATAATTCAGTGATCTTTTAAAATTTGTTTTAAAATATTTTAAAAGGAAAATATTTGCTATTAAAGGAGGAAAATCTTTGCTATTAAAGGAGCAAAATCTTTGCTGTT... | pathogenic | 75,687 |
Considering the genetic mutation at chromosome 3, position 149167238, impacting CP: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hermansky-Pudlak_syndrome_3'] | AGATGTATGGGGAGCATTGGACAAGACAGATGGAGCTTTGCCTTCCTAGATCATACACACTAATTACATATTTAAAATTGTAATTGGAATAAGTGCTATTAAATTTTCCCTGATAAAGCTTTAAAGCATATTTATAATCATTGCTTGAAAAAGTATAATTCAGTGATCTTTTAAAATTTGTTTTAAAATATTTTAAAAGGAAAATATTTGCTATTAAAGGAGGAAAATCTTTGCTATTAAAGGAGCAAAATCTTTGCTGTTGAAGGAGAAACATAGTCTGCCTAAACTTTTATAATTTTTTTTTTTAGAGAGACAGTCTC... | AGATGTATGGGGAGCATTGGACAAGACAGATGGAGCTTTGCCTTCCTAGATCATACACACTAATTACATATTTAAAATTGTAATTGGAATAAGTGCTATTAAATTTTCCCTGATAAAGCTTTAAAGCATATTTATAATCATTGCTTGAAAAAGTATAATTCAGTGATCTTTTAAAATTTGTTTTAAAATATTTTAAAAGGAAAATATTTGCTATTAAAGGAGGAAAATCTTTGCTATTAAAGGAGCAAAATCTTTGCTGTTGAAGGAGAAACATAGTCTGCCTAAACTTTTATAATTTTTTTTTTTAGAGAGACAGTCTC... | pathogenic | 75,688 |
Considering the variant on chromosome 3, location 149167904, involving gene CP, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hermansky-Pudlak_syndrome'] | TATCAACCTTATTTCATCTCTGCCATCTGATTGTCAGGAAATTATTCACATGAATAATTTATTAAACTTGCAGGAAGAAAAGGTACCAACCTTATTCTCCTGGTCATTCCTTGGTAGATATTTGGAATAAAATAATCACACTGACTGTGATTGGGTAGATCACATTCCATATTCTCCTGTGAGTCTCAGAAGATGCTGTAGCAAAAAGGGTACAGGGACAAGAAAATTAGGACATGACCATCTCATCTTTATCCTGGAGAAAGGGAAAGTGGAGATTATTTTGGTGGTAGAATCAAAAGTAGTATTTATAGTTTAATTGC... | TATCAACCTTATTTCATCTCTGCCATCTGATTGTCAGGAAATTATTCACATGAATAATTTATTAAACTTGCAGGAAGAAAAGGTACCAACCTTATTCTCCTGGTCATTCCTTGGTAGATATTTGGAATAAAATAATCACACTGACTGTGATTGGGTAGATCACATTCCATATTCTCCTGTGAGTCTCAGAAGATGCTGTAGCAAAAAGGGTACAGGGACAAGAAAATTAGGACATGACCATCTCATCTTTATCCTGGAGAAAGGGAAAGTGGAGATTATTTTGGTGGTAGAATCAAAAGTAGTATTTATAGTTTAATTGC... | pathogenic | 75,693 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 149167992, gene CP. What disease(s) is it linked to if pathogenic? | benign | ACCTTATTCTCCTGGTCATTCCTTGGTAGATATTTGGAATAAAATAATCACACTGACTGTGATTGGGTAGATCACATTCCATATTCTCCTGTGAGTCTCAGAAGATGCTGTAGCAAAAAGGGTACAGGGACAAGAAAATTAGGACATGACCATCTCATCTTTATCCTGGAGAAAGGGAAAGTGGAGATTATTTTGGTGGTAGAATCAAAAGTAGTATTTATAGTTTAATTGCTTGAAGTAAATATTGGTAAAGTTGTAAATTCTGAGATAATACTGCTCCCTGTTATTCATCTTGTGACAAAGTGGTATTGATAACAATG... | ACCTTATTCTCCTGGTCATTCCTTGGTAGATATTTGGAATAAAATAATCACACTGACTGTGATTGGGTAGATCACATTCCATATTCTCCTGTGAGTCTCAGAAGATGCTGTAGCAAAAAGGGTACAGGGACAAGAAAATTAGGACATGACCATCTCATCTTTATCCTGGAGAAAGGGAAAGTGGAGATTATTTTGGTGGTAGAATCAAAAGTAGTATTTATAGTTTAATTGCTTGAAGTAAATATTGGTAAAGTTGTAAATTCTGAGATAATACTGCTCCCTGTTATTCATCTTGTGACAAAGTGGTATTGATAACAATG... | benign | 75,694 |
Variant on chromosome 3, at position 149183608, affecting CP (ceruloplasmin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TAAAGAAACATTTGATGATCTCCTAATATATGCCAGATACTGTACTAGATAGGGGGAATTTAGAGTTCCAAGTGGCAGCCTCTGGCCCTTAGAACCACATGTGCTAGAGACAGGCATGGGAACATCCAGCCACATATGGTGTGGTAGATGCCATTTGAGCTGTGTTCTAGCTGAGCGAGGAGACAGCATCTCTCTGATTCACGCTTGAGGATTCATAGATGTCTACTACCTTCAGGTTTTTCTCTTAAGCTCTCCTGTGGACTTTTTTTTTTAGTACAAGCATGTGCATGTACTTGCATACACACAGACACCTCCTTGCA... | TAAAGAAACATTTGATGATCTCCTAATATATGCCAGATACTGTACTAGATAGGGGGAATTTAGAGTTCCAAGTGGCAGCCTCTGGCCCTTAGAACCACATGTGCTAGAGACAGGCATGGGAACATCCAGCCACATATGGTGTGGTAGATGCCATTTGAGCTGTGTTCTAGCTGAGCGAGGAGACAGCATCTCTCTGATTCACGCTTGAGGATTCATAGATGTCTACTACCTTCAGGTTTTTCTCTTAAGCTCTCCTGTGGACTTTTTTTTTTAGTACAAGCATGTGCATGTACTTGCATACACACAGACACCTCCTTGCA... | benign | 75,729 |
Evaluate the clinical significance of the mutation at chromosome 3, position 149183619 in gene CP (ceruloplasmin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TTGATGATCTCCTAATATATGCCAGATACTGTACTAGATAGGGGGAATTTAGAGTTCCAAGTGGCAGCCTCTGGCCCTTAGAACCACATGTGCTAGAGACAGGCATGGGAACATCCAGCCACATATGGTGTGGTAGATGCCATTTGAGCTGTGTTCTAGCTGAGCGAGGAGACAGCATCTCTCTGATTCACGCTTGAGGATTCATAGATGTCTACTACCTTCAGGTTTTTCTCTTAAGCTCTCCTGTGGACTTTTTTTTTTAGTACAAGCATGTGCATGTACTTGCATACACACAGACACCTCCTTGCATCCCCTCTTCA... | TTGATGATCTCCTAATATATGCCAGATACTGTACTAGATAGGGGGAATTTAGAGTTCCAAGTGGCAGCCTCTGGCCCTTAGAACCACATGTGCTAGAGACAGGCATGGGAACATCCAGCCACATATGGTGTGGTAGATGCCATTTGAGCTGTGTTCTAGCTGAGCGAGGAGACAGCATCTCTCTGATTCACGCTTGAGGATTCATAGATGTCTACTACCTTCAGGTTTTTCTCTTAAGCTCTCCTGTGGACTTTTTTTTTTAGTACAAGCATGTGCATGTACTTGCATACACACAGACACCTCCTTGCATCCCCTCTTCA... | benign | 75,731 |
Is the genetic mutation found on chromosome 3 at position 149186530, within the gene CP (ceruloplasmin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['CP-related_disorder', 'Deficiency_of_ferroxidase', 'Neurodegeneration_with_brain_iron_accumulation'] | GCTATGCACCCTGGATCTGAACACCTGCCCACCCCAATCTCTCAGATCATCTCCATGTGGTCAGCGCATGATGTAAGTGGGATGATGGAGAGGAAAGTGCTTGGAAAAGTATGAAGAAAGGGCTAACTAGAAGTGATGAGAGATGCTGCTCTAAATTAATGTTTCTGAAGCTCTAATCATCCTCTACTTATATCTATTCATACAGAATTTATTTTGTACTTTTCCATGATGGACATGTTACTGGTAATTTTGTGCCATATTTTCCTGTAAGTTCTTAGAGGATAGAGACTATATCTATCATCTTCAAGCATTTAAAATAT... | GCTATGCACCCTGGATCTGAACACCTGCCCACCCCAATCTCTCAGATCATCTCCATGTGGTCAGCGCATGATGTAAGTGGGATGATGGAGAGGAAAGTGCTTGGAAAAGTATGAAGAAAGGGCTAACTAGAAGTGATGAGAGATGCTGCTCTAAATTAATGTTTCTGAAGCTCTAATCATCCTCTACTTATATCTATTCATACAGAATTTATTTTGTACTTTTCCATGATGGACATGTTACTGGTAATTTTGTGCCATATTTTCCTGTAAGTTCTTAGAGGATAGAGACTATATCTATCATCTTCAAGCATTTAAAATAT... | pathogenic | 75,738 |
Evaluate the clinical significance of the mutation at chromosome 3, position 149186604 in gene CP (ceruloplasmin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['CP-related_disorder', 'Deficiency_of_ferroxidase'] | AAGTGGGATGATGGAGAGGAAAGTGCTTGGAAAAGTATGAAGAAAGGGCTAACTAGAAGTGATGAGAGATGCTGCTCTAAATTAATGTTTCTGAAGCTCTAATCATCCTCTACTTATATCTATTCATACAGAATTTATTTTGTACTTTTCCATGATGGACATGTTACTGGTAATTTTGTGCCATATTTTCCTGTAAGTTCTTAGAGGATAGAGACTATATCTATCATCTTCAAGCATTTAAAATATTCCATACGTAACGGTTTTAAGGATGTGAAATGACCGATTGTTAGACTAACAATGAAAACTCTGAAGGAAAAATA... | AAGTGGGATGATGGAGAGGAAAGTGCTTGGAAAAGTATGAAGAAAGGGCTAACTAGAAGTGATGAGAGATGCTGCTCTAAATTAATGTTTCTGAAGCTCTAATCATCCTCTACTTATATCTATTCATACAGAATTTATTTTGTACTTTTCCATGATGGACATGTTACTGGTAATTTTGTGCCATATTTTCCTGTAAGTTCTTAGAGGATAGAGACTATATCTATCATCTTCAAGCATTTAAAATATTCCATACGTAACGGTTTTAAGGATGTGAAATGACCGATTGTTAGACTAACAATGAAAACTCTGAAGGAAAAATA... | pathogenic | 75,739 |
Variant in gene CP (ceruloplasmin), located at chromosome 3 position 149210165: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Deficiency_of_ferroxidase'] | AAAATTTTTAAGATTGGAAGAGATATGAAGGAGGGAAAAAATGTAGAAGGGCAGCAGGGACAGAGCCACAAAGACCTAAAAGTTCATAGGCAAGGTGGCCTGAAACCCTCAGAAGAAACTTATGGTCACTGTTCAAACTGGGTGGCCCTAAAAATTTCCCAAGTGGAAATTAGTTCTGGGAAGAATCCTGAGTGCACCACATGTAACACTGGTACCAAATCAAACCTGCTCAGGCTAGAATTTTGAGTATCTTTTTATAACAACTATTTTTGTTAGTACACAACAGAGACAGGATTAAAGTATGGAAAGAGGACCTTCCA... | AAAATTTTTAAGATTGGAAGAGATATGAAGGAGGGAAAAAATGTAGAAGGGCAGCAGGGACAGAGCCACAAAGACCTAAAAGTTCATAGGCAAGGTGGCCTGAAACCCTCAGAAGAAACTTATGGTCACTGTTCAAACTGGGTGGCCCTAAAAATTTCCCAAGTGGAAATTAGTTCTGGGAAGAATCCTGAGTGCACCACATGTAACACTGGTACCAAATCAAACCTGCTCAGGCTAGAATTTTGAGTATCTTTTTATAACAACTATTTTTGTTAGTACACAACAGAGACAGGATTAAAGTATGGAAAGAGGACCTTCCA... | pathogenic | 75,764 |
Considering the genetic mutation at chromosome 3, position 150927631, impacting CLRN1 (clarin 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CCCGGATGTAAGGAGTGCCCCTCCTCTTCATTCTAATGCACCATCTGCATCTGTTTTCGCTTCATTCTGAAGCTTGCTCCTCTTCCGGTGAACACGTCTTGCCTTGGCTGGGTCCACCTGGACAAACCTAGGGTGATGTTCATACATTCTTCTTGCCATTCTTTCTGGCAGCATCATCAGCACTGATGTTCTCACTGATGACATGAAGGTGTCTGAGACAATTAAACAGGCTCCCCACCTGGCATGGTGTTCGCCTCCCCAGGGCCAGCAGGGGGCCCCGCGACCTTGTGAGAAGGCTAGCTGCCACCTGGGGAAGGAGG... | CCCGGATGTAAGGAGTGCCCCTCCTCTTCATTCTAATGCACCATCTGCATCTGTTTTCGCTTCATTCTGAAGCTTGCTCCTCTTCCGGTGAACACGTCTTGCCTTGGCTGGGTCCACCTGGACAAACCTAGGGTGATGTTCATACATTCTTCTTGCCATTCTTTCTGGCAGCATCATCAGCACTGATGTTCTCACTGATGACATGAAGGTGTCTGAGACAATTAAACAGGCTCCCCACCTGGCATGGTGTTCGCCTCCCCAGGGCCAGCAGGGGGCCCCGCGACCTTGTGAGAAGGCTAGCTGCCACCTGGGGAAGGAGG... | benign | 75,792 |
Evaluate this variant at chromosome 3, position 150928043, gene CLRN1 (clarin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Retinitis_pigmentosa_61'] | AAGGGCTCCCCATAGGCCTGGGGACTATGCGTTTCATCTGCGAGAAGAGAGGGAGACCGGTGCTGCTGGTGCCGGGTTGTTTCCTGCTTTATTTTGTGTGCGGTGTGCTCTGCAGGGACCTTTTGAGTGTCTGTCACAGCCCTGCTTCTCCTTTCCAGCCAGGGAACATGGTGGGTTTGCCTCTTAGTTCCTCATTAGATTTTTCAGCAGCTGCTCCAGGTTTTCTTTCTCTTTCTACGGAACAGAGAACGATTGGAGACTTGTTTTCTAAAGAAAAAAGCCTGGTGTTCGAAGGAGTTTTTCAAAACTCCAAGAAGACA... | AAGGGCTCCCCATAGGCCTGGGGACTATGCGTTTCATCTGCGAGAAGAGAGGGAGACCGGTGCTGCTGGTGCCGGGTTGTTTCCTGCTTTATTTTGTGTGCGGTGTGCTCTGCAGGGACCTTTTGAGTGTCTGTCACAGCCCTGCTTCTCCTTTCCAGCCAGGGAACATGGTGGGTTTGCCTCTTAGTTCCTCATTAGATTTTTCAGCAGCTGCTCCAGGTTTTCTTTCTCTTTCTACGGAACAGAGAACGATTGGAGACTTGTTTTCTAAAGAAAAAAGCCTGGTGTTCGAAGGAGTTTTTCAAAACTCCAAGAAGACA... | pathogenic | 75,796 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 150928056, gene CLRN1 (clarin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Retinitis_pigmentosa_61', 'Usher_syndrome_type_3A'] | AGGCCTGGGGACTATGCGTTTCATCTGCGAGAAGAGAGGGAGACCGGTGCTGCTGGTGCCGGGTTGTTTCCTGCTTTATTTTGTGTGCGGTGTGCTCTGCAGGGACCTTTTGAGTGTCTGTCACAGCCCTGCTTCTCCTTTCCAGCCAGGGAACATGGTGGGTTTGCCTCTTAGTTCCTCATTAGATTTTTCAGCAGCTGCTCCAGGTTTTCTTTCTCTTTCTACGGAACAGAGAACGATTGGAGACTTGTTTTCTAAAGAAAAAAGCCTGGTGTTCGAAGGAGTTTTTCAAAACTCCAAGAAGACAGAGAGGAATCCAA... | AGGCCTGGGGACTATGCGTTTCATCTGCGAGAAGAGAGGGAGACCGGTGCTGCTGGTGCCGGGTTGTTTCCTGCTTTATTTTGTGTGCGGTGTGCTCTGCAGGGACCTTTTGAGTGTCTGTCACAGCCCTGCTTCTCCTTTCCAGCCAGGGAACATGGTGGGTTTGCCTCTTAGTTCCTCATTAGATTTTTCAGCAGCTGCTCCAGGTTTTCTTTCTCTTTCTACGGAACAGAGAACGATTGGAGACTTGTTTTCTAAAGAAAAAAGCCTGGTGTTCGAAGGAGTTTTTCAAAACTCCAAGAAGACAGAGAGGAATCCAA... | pathogenic | 75,797 |
Is chromosome 3, position 150928132, gene CLRN1 (clarin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['CLRN1-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa_61', 'Usher_syndrome', 'Usher_syndrome_type_3', 'Usher_syndrome_type_3A'] | TATTTTGTGTGCGGTGTGCTCTGCAGGGACCTTTTGAGTGTCTGTCACAGCCCTGCTTCTCCTTTCCAGCCAGGGAACATGGTGGGTTTGCCTCTTAGTTCCTCATTAGATTTTTCAGCAGCTGCTCCAGGTTTTCTTTCTCTTTCTACGGAACAGAGAACGATTGGAGACTTGTTTTCTAAAGAAAAAAGCCTGGTGTTCGAAGGAGTTTTTCAAAACTCCAAGAAGACAGAGAGGAATCCAATAAGAGTGCAGGGGGTACCTGGCCTTGGGGACCTCCAACCAACTCCTCACGCAGGAGACGGTCCTTGTCCTCCTAG... | TATTTTGTGTGCGGTGTGCTCTGCAGGGACCTTTTGAGTGTCTGTCACAGCCCTGCTTCTCCTTTCCAGCCAGGGAACATGGTGGGTTTGCCTCTTAGTTCCTCATTAGATTTTTCAGCAGCTGCTCCAGGTTTTCTTTCTCTTTCTACGGAACAGAGAACGATTGGAGACTTGTTTTCTAAAGAAAAAAGCCTGGTGTTCGAAGGAGTTTTTCAAAACTCCAAGAAGACAGAGAGGAATCCAATAAGAGTGCAGGGGGTACCTGGCCTTGGGGACCTCCAACCAACTCCTCACGCAGGAGACGGTCCTTGTCCTCCTAG... | pathogenic | 75,804 |
The chromosome 3, position 150941709 genetic variant in gene CLRN1 (clarin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Rare_genetic_deafness', 'Retinitis_pigmentosa_61', 'Usher_syndrome', 'Usher_syndrome_type_3', 'Usher_syndrome_type_3A'] | AGACGCTGCTCATCTGGGAACTCCAGTTTGAGAACCACTGCTTTACATTCCTTCTGTTAAAATTCTGTGTAATGGTCATCAGTAAAACAGCACACCACCCGGATCCACCTGTTTGGTTTTGGATGTTTGGTGAGCAGAAGTAATCCCAACTCTCTCTTCTCATCTGGACTTTCACATGTGATTGAATCACTTTCTCATTCAGTCTGCCCACACCCTGAGCCTGTGCTCTTGGCTCTTCAGCTCTGATTGCAAAGCCCTTGGCCTTTGTTTATGATATTCCATCCCTCTCCTCACTGGCTCATGTCCTATTGCTTCAAAGC... | AGACGCTGCTCATCTGGGAACTCCAGTTTGAGAACCACTGCTTTACATTCCTTCTGTTAAAATTCTGTGTAATGGTCATCAGTAAAACAGCACACCACCCGGATCCACCTGTTTGGTTTTGGATGTTTGGTGAGCAGAAGTAATCCCAACTCTCTCTTCTCATCTGGACTTTCACATGTGATTGAATCACTTTCTCATTCAGTCTGCCCACACCCTGAGCCTGTGCTCTTGGCTCTTCAGCTCTGATTGCAAAGCCCTTGGCCTTTGTTTATGATATTCCATCCCTCTCCTCACTGGCTCATGTCCTATTGCTTCAAAGC... | pathogenic | 75,811 |
Mutation at chromosome 3, position 150972557, within CLRN1 (clarin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Rare_genetic_deafness', 'Retinal_dystrophy', 'Retinitis_pigmentosa_61', 'Usher_syndrome_type_3', 'Usher_syndrome_type_3A'] | ATGCTTAGGAAAAAAAAAAAAGCTCTACTGTAAGTATTCTTAGCTGGGCCTCACCAAAATGAATGAGATTTTTAACATGTATAGTATATACAGTACACTTAATATGTATAGTCTATTGTATATTGATGGAGCTGTCACTGCAGAATGAACAAGTAAATGGAAGATTTTCTTCACTAGGCTAGGGGGAGAATGTCAGGGGTATCTGGGAGCTAATGAAATTCTGTGAGATAAGTGAGGGTACTGTTTAAACCCCACCAGTTCTGCAAGTCCTCACAGAAAGCAAAAGGAGGGGCACCCAATTAGAACAACTTCATCCTTAG... | ATGCTTAGGAAAAAAAAAAAAGCTCTACTGTAAGTATTCTTAGCTGGGCCTCACCAAAATGAATGAGATTTTTAACATGTATAGTATATACAGTACACTTAATATGTATAGTCTATTGTATATTGATGGAGCTGTCACTGCAGAATGAACAAGTAAATGGAAGATTTTCTTCACTAGGCTAGGGGGAGAATGTCAGGGGTATCTGGGAGCTAATGAAATTCTGTGAGATAAGTGAGGGTACTGTTTAAACCCCACCAGTTCTGCAAGTCCTCACAGAAAGCAAAAGGAGGGGCACCCAATTAGAACAACTTCATCCTTAG... | pathogenic | 75,823 |
The genetic variant at chromosome 3, position 150972560, affecting gene CLRN1 (clarin 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_61', 'Usher_syndrome', 'Usher_syndrome_type_3A'] | CTTAGGAAAAAAAAAAAAGCTCTACTGTAAGTATTCTTAGCTGGGCCTCACCAAAATGAATGAGATTTTTAACATGTATAGTATATACAGTACACTTAATATGTATAGTCTATTGTATATTGATGGAGCTGTCACTGCAGAATGAACAAGTAAATGGAAGATTTTCTTCACTAGGCTAGGGGGAGAATGTCAGGGGTATCTGGGAGCTAATGAAATTCTGTGAGATAAGTGAGGGTACTGTTTAAACCCCACCAGTTCTGCAAGTCCTCACAGAAAGCAAAAGGAGGGGCACCCAATTAGAACAACTTCATCCTTAGACA... | CTTAGGAAAAAAAAAAAAGCTCTACTGTAAGTATTCTTAGCTGGGCCTCACCAAAATGAATGAGATTTTTAACATGTATAGTATATACAGTACACTTAATATGTATAGTCTATTGTATATTGATGGAGCTGTCACTGCAGAATGAACAAGTAAATGGAAGATTTTCTTCACTAGGCTAGGGGGAGAATGTCAGGGGTATCTGGGAGCTAATGAAATTCTGTGAGATAAGTGAGGGTACTGTTTAAACCCCACCAGTTCTGCAAGTCCTCACAGAAAGCAAAAGGAGGGGCACCCAATTAGAACAACTTCATCCTTAGACA... | pathogenic | 75,824 |
Clinically, how would you classify the variant at chromosome 3, position 150972570, gene CLRN1 (clarin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Retinitis_pigmentosa_61'] | AAAAAAAAGCTCTACTGTAAGTATTCTTAGCTGGGCCTCACCAAAATGAATGAGATTTTTAACATGTATAGTATATACAGTACACTTAATATGTATAGTCTATTGTATATTGATGGAGCTGTCACTGCAGAATGAACAAGTAAATGGAAGATTTTCTTCACTAGGCTAGGGGGAGAATGTCAGGGGTATCTGGGAGCTAATGAAATTCTGTGAGATAAGTGAGGGTACTGTTTAAACCCCACCAGTTCTGCAAGTCCTCACAGAAAGCAAAAGGAGGGGCACCCAATTAGAACAACTTCATCCTTAGACAGGACAAGCAT... | AAAAAAAAGCTCTACTGTAAGTATTCTTAGCTGGGCCTCACCAAAATGAATGAGATTTTTAACATGTATAGTATATACAGTACACTTAATATGTATAGTCTATTGTATATTGATGGAGCTGTCACTGCAGAATGAACAAGTAAATGGAAGATTTTCTTCACTAGGCTAGGGGGAGAATGTCAGGGGTATCTGGGAGCTAATGAAATTCTGTGAGATAAGTGAGGGTACTGTTTAAACCCCACCAGTTCTGCAAGTCCTCACAGAAAGCAAAAGGAGGGGCACCCAATTAGAACAACTTCATCCTTAGACAGGACAAGCAT... | pathogenic | 75,827 |
Determine if the mutation at chromosome 3, position 150972572 in gene CLRN1 (clarin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_61'] | AAAAAAGCTCTACTGTAAGTATTCTTAGCTGGGCCTCACCAAAATGAATGAGATTTTTAACATGTATAGTATATACAGTACACTTAATATGTATAGTCTATTGTATATTGATGGAGCTGTCACTGCAGAATGAACAAGTAAATGGAAGATTTTCTTCACTAGGCTAGGGGGAGAATGTCAGGGGTATCTGGGAGCTAATGAAATTCTGTGAGATAAGTGAGGGTACTGTTTAAACCCCACCAGTTCTGCAAGTCCTCACAGAAAGCAAAAGGAGGGGCACCCAATTAGAACAACTTCATCCTTAGACAGGACAAGCATAG... | AAAAAAGCTCTACTGTAAGTATTCTTAGCTGGGCCTCACCAAAATGAATGAGATTTTTAACATGTATAGTATATACAGTACACTTAATATGTATAGTCTATTGTATATTGATGGAGCTGTCACTGCAGAATGAACAAGTAAATGGAAGATTTTCTTCACTAGGCTAGGGGGAGAATGTCAGGGGTATCTGGGAGCTAATGAAATTCTGTGAGATAAGTGAGGGTACTGTTTAAACCCCACCAGTTCTGCAAGTCCTCACAGAAAGCAAAAGGAGGGGCACCCAATTAGAACAACTTCATCCTTAGACAGGACAAGCATAG... | pathogenic | 75,828 |
Evaluate this variant at chromosome 3, position 150972677, gene CLRN1: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Retinitis_pigmentosa_61'] | TATTGATGGAGCTGTCACTGCAGAATGAACAAGTAAATGGAAGATTTTCTTCACTAGGCTAGGGGGAGAATGTCAGGGGTATCTGGGAGCTAATGAAATTCTGTGAGATAAGTGAGGGTACTGTTTAAACCCCACCAGTTCTGCAAGTCCTCACAGAAAGCAAAAGGAGGGGCACCCAATTAGAACAACTTCATCCTTAGACAGGACAAGCATAGGACACAACCACAAAAATCATTCGCTAAACCCCAGAAGAATGTGGCTGTGTAAGGATTAAATGAGACAAAGCATATAAAGTGCTTAGTATGTAGTAAGTGTTCAGA... | TATTGATGGAGCTGTCACTGCAGAATGAACAAGTAAATGGAAGATTTTCTTCACTAGGCTAGGGGGAGAATGTCAGGGGTATCTGGGAGCTAATGAAATTCTGTGAGATAAGTGAGGGTACTGTTTAAACCCCACCAGTTCTGCAAGTCCTCACAGAAAGCAAAAGGAGGGGCACCCAATTAGAACAACTTCATCCTTAGACAGGACAAGCATAGGACACAACCACAAAAATCATTCGCTAAACCCCAGAAGAATGTGGCTGTGTAAGGATTAAATGAGACAAAGCATATAAAGTGCTTAGTATGTAGTAAGTGTTCAGA... | pathogenic | 75,836 |
Variant at chromosome 3, position 151437207, gene IGSF10 (immunoglobulin superfamily member 10): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TTACCAGAGGAAATTACCTTAGAATAAGATGGAGCGAGACCCCAGCTCCCCTTAAAGACAAGACCTTGAAATCAAATGGAGTCAGCTATACCTATCAATCAATCACAGTTCTTGGATATAAGAAGCCCATAGACTCTCTTGTTTACACTGTAGGCTTTTTCTTAATAGGGTTGCATTTGTCAGTCATTGCATTTACCCTTCTTGGCCTGGAAGTAGAGGAGATCAATGCGTAGCTTTGACCACTTCCAGCCACAGGGTACTAACATCAGACATAAGTTGCAACCAGGTCACATTTTAGGCTGAGATGGGGCTAACTGAAA... | TTACCAGAGGAAATTACCTTAGAATAAGATGGAGCGAGACCCCAGCTCCCCTTAAAGACAAGACCTTGAAATCAAATGGAGTCAGCTATACCTATCAATCAATCACAGTTCTTGGATATAAGAAGCCCATAGACTCTCTTGTTTACACTGTAGGCTTTTTCTTAATAGGGTTGCATTTGTCAGTCATTGCATTTACCCTTCTTGGCCTGGAAGTAGAGGAGATCAATGCGTAGCTTTGACCACTTCCAGCCACAGGGTACTAACATCAGACATAAGTTGCAACCAGGTCACATTTTAGGCTGAGATGGGGCTAACTGAAA... | benign | 75,867 |
Clinical classification of chromosome 3, position 155160369, gene MME (membrane metalloendopeptidase): benign or pathogenic? Disease(s) if pathogenic? | benign | CTAGATACCTGTTAAATTAACTTTTATAGCAGTTAAAACTTTAATAACTATAAGCTGTTTACCTAAAAAATTTGCTGCCACGTTTGCTATGAAAATGTCGAGGACACATCAGAATTACCTTTCAGAAGTCATGCAAGGAACAATGTTTCCCCCTAGGAGTAGTAAGAGCACATTTTCCATTTTGACTTTCTTGCCAGACAGCTTGGAATCGTATCTGAACCTGAATTATAGTAACTGTCTGAATATATATAAACATAGTCATAATATATTTCCTAATCATGATTTTTGTTTATTTTCTTTTATAATACTTCGTAGTCACG... | CTAGATACCTGTTAAATTAACTTTTATAGCAGTTAAAACTTTAATAACTATAAGCTGTTTACCTAAAAAATTTGCTGCCACGTTTGCTATGAAAATGTCGAGGACACATCAGAATTACCTTTCAGAAGTCATGCAAGGAACAATGTTTCCCCCTAGGAGTAGTAAGAGCACATTTTCCATTTTGACTTTCTTGCCAGACAGCTTGGAATCGTATCTGAACCTGAATTATAGTAACTGTCTGAATATATATAAACATAGTCATAATATATTTCCTAATCATGATTTTTGTTTATTTTCTTTTATAATACTTCGTAGTCACG... | benign | 75,951 |
A genetic variant at chromosome 3, position 158644683, affecting gene GFM1 (G elongation factor mitochondrial 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | CTGTGCCAACCACAGGTCCACCTTTGCATACTTGACCTTACCAGTATTTTATGAATATATATGTACAGCTCCCATGTTACCAGTGAAGGGTCTTGACTATGAGTCATACAGGTTCTTGGCGTTTGAACAAAGAATTGGACAAAACACATAAGCAAAGCAATGAAAGAATGGAGCAATGAAGGCACAGATGTGTTGAAACAAAAGTACACTCCACAGCTCAAGAGCACCTGTTACAGAATTTTCTGGGATTTAAATACCCTCTAGAGCGTTCCCATTGGTTACACCCTATGTAAATGAAGGAGTGGCCCATAACCAGCCTG... | CTGTGCCAACCACAGGTCCACCTTTGCATACTTGACCTTACCAGTATTTTATGAATATATATGTACAGCTCCCATGTTACCAGTGAAGGGTCTTGACTATGAGTCATACAGGTTCTTGGCGTTTGAACAAAGAATTGGACAAAACACATAAGCAAAGCAATGAAAGAATGGAGCAATGAAGGCACAGATGTGTTGAAACAAAAGTACACTCCACAGCTCAAGAGCACCTGTTACAGAATTTTCTGGGATTTAAATACCCTCTAGAGCGTTCCCATTGGTTACACCCTATGTAAATGAAGGAGTGGCCCATAACCAGCCTG... | pathogenic | 76,019 |
Variant in gene GFM1 (G elongation factor mitochondrial 1), located at chromosome 3 position 158645635: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | CCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCCATCTCATGACCTCGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGCGTCCGGCCCTGGATGTCTTTTTGAAAGTAGAGCTTACAGGATATGCTGACTGATTAGACCGGAGATGTCACAGCATGGTGTCAAAGCGACTAATATTTTTGGCTAGAATCACT... | CCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCCATCTCATGACCTCGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGCGTCCGGCCCTGGATGTCTTTTTGAAAGTAGAGCTTACAGGATATGCTGACTGATTAGACCGGAGATGTCACAGCATGGTGTCAAAGCGACTAATATTTTTGGCTAGAATCACT... | pathogenic | 76,025 |
Considering the variant on chromosome 3, location 158645660, involving gene GFM1 (G elongation factor mitochondrial 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCCATCTCATGACCTCGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGCGTCCGGCCCTGGATGTCTTTTTGAAAGTAGAGCTTACAGGATATGCTGACTGATTAGACCGGAGATGTCACAGCATGGTGTCAAAGCGACTAATATTTTTGGCTAGAATCACTAAAGTTTACATTTATGAGATGGATA... | GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCCATCTCATGACCTCGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGCGTCCGGCCCTGGATGTCTTTTTGAAAGTAGAGCTTACAGGATATGCTGACTGATTAGACCGGAGATGTCACAGCATGGTGTCAAAGCGACTAATATTTTTGGCTAGAATCACTAAAGTTTACATTTATGAGATGGATA... | pathogenic | 76,027 |
A genetic variant on chromosome 3, position 158645709, affects the gene GFM1 (G elongation factor mitochondrial 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | GGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCCATCTCATGACCTCGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGCGTCCGGCCCTGGATGTCTTTTTGAAAGTAGAGCTTACAGGATATGCTGACTGATTAGACCGGAGATGTCACAGCATGGTGTCAAAGCGACTAATATTTTTGGCTAGAATCACTAAAGTTTACATTTATGAGATGGATAAGACTGTGGAAGGTTTGGGGAAGAAGATCCGAAGCTCAGTTTTGGACCT... | GGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCCATCTCATGACCTCGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGCGTCCGGCCCTGGATGTCTTTTTGAAAGTAGAGCTTACAGGATATGCTGACTGATTAGACCGGAGATGTCACAGCATGGTGTCAAAGCGACTAATATTTTTGGCTAGAATCACTAAAGTTTACATTTATGAGATGGATAAGACTGTGGAAGGTTTGGGGAAGAAGATCCGAAGCTCAGTTTTGGACCT... | pathogenic | 76,030 |
Is the genetic change at chromosome 3, position 158646175, within gene GFM1 (G elongation factor mitochondrial 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | GTTCATTCACTATAATTTGTCCACGTTCTTTTTCAGGCCATGTCATATATATACCTATTAATATTTGTAATAGACAATTTTGCTCTTTTCTACTTAAATTGTTATATACATTTCTCCACATTGCTTTATAGGCCTAACAACCATGTTTAAATTCTGTATCTTCATACAGAGGTAATATTTAAAAAAGAAGACGAAGACAAAAGGACTCCCTTCCCTCACCCATATACCTATGCCGTCTTACTGGGAGCAAACACTTCTTTAGCTCCGCAAAGCGATTGCACTTTCTCTTCCAAGTCGGCAGACGGCGCGCGAGCAGCGTA... | GTTCATTCACTATAATTTGTCCACGTTCTTTTTCAGGCCATGTCATATATATACCTATTAATATTTGTAATAGACAATTTTGCTCTTTTCTACTTAAATTGTTATATACATTTCTCCACATTGCTTTATAGGCCTAACAACCATGTTTAAATTCTGTATCTTCATACAGAGGTAATATTTAAAAAAGAAGACGAAGACAAAAGGACTCCCTTCCCTCACCCATATACCTATGCCGTCTTACTGGGAGCAAACACTTCTTTAGCTCCGCAAAGCGATTGCACTTTCTCTTCCAAGTCGGCAGACGGCGCGCGAGCAGCGTA... | pathogenic | 76,035 |
Is the variant located on chromosome 3 at position 158646201, gene GFM1 (G elongation factor mitochondrial 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | TCTTTTTCAGGCCATGTCATATATATACCTATTAATATTTGTAATAGACAATTTTGCTCTTTTCTACTTAAATTGTTATATACATTTCTCCACATTGCTTTATAGGCCTAACAACCATGTTTAAATTCTGTATCTTCATACAGAGGTAATATTTAAAAAAGAAGACGAAGACAAAAGGACTCCCTTCCCTCACCCATATACCTATGCCGTCTTACTGGGAGCAAACACTTCTTTAGCTCCGCAAAGCGATTGCACTTTCTCTTCCAAGTCGGCAGACGGCGCGCGAGCAGCGTAGGCACTGCTCCGCCTCCAATCCAGTT... | TCTTTTTCAGGCCATGTCATATATATACCTATTAATATTTGTAATAGACAATTTTGCTCTTTTCTACTTAAATTGTTATATACATTTCTCCACATTGCTTTATAGGCCTAACAACCATGTTTAAATTCTGTATCTTCATACAGAGGTAATATTTAAAAAAGAAGACGAAGACAAAAGGACTCCCTTCCCTCACCCATATACCTATGCCGTCTTACTGGGAGCAAACACTTCTTTAGCTCCGCAAAGCGATTGCACTTTCTCTTCCAAGTCGGCAGACGGCGCGCGAGCAGCGTAGGCACTGCTCCGCCTCCAATCCAGTT... | pathogenic | 76,036 |
For chromosome 3, position 158646211, gene GFM1 (G elongation factor mitochondrial 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | GCCATGTCATATATATACCTATTAATATTTGTAATAGACAATTTTGCTCTTTTCTACTTAAATTGTTATATACATTTCTCCACATTGCTTTATAGGCCTAACAACCATGTTTAAATTCTGTATCTTCATACAGAGGTAATATTTAAAAAAGAAGACGAAGACAAAAGGACTCCCTTCCCTCACCCATATACCTATGCCGTCTTACTGGGAGCAAACACTTCTTTAGCTCCGCAAAGCGATTGCACTTTCTCTTCCAAGTCGGCAGACGGCGCGCGAGCAGCGTAGGCACTGCTCCGCCTCCAATCCAGTTGCTCTTCTTT... | GCCATGTCATATATATACCTATTAATATTTGTAATAGACAATTTTGCTCTTTTCTACTTAAATTGTTATATACATTTCTCCACATTGCTTTATAGGCCTAACAACCATGTTTAAATTCTGTATCTTCATACAGAGGTAATATTTAAAAAAGAAGACGAAGACAAAAGGACTCCCTTCCCTCACCCATATACCTATGCCGTCTTACTGGGAGCAAACACTTCTTTAGCTCCGCAAAGCGATTGCACTTTCTCTTCCAAGTCGGCAGACGGCGCGCGAGCAGCGTAGGCACTGCTCCGCCTCCAATCCAGTTGCTCTTCTTT... | pathogenic | 76,037 |
Clinically, how would you classify the variant at chromosome 3, position 158646219, gene GFM1 (G elongation factor mitochondrial 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | ATATATATACCTATTAATATTTGTAATAGACAATTTTGCTCTTTTCTACTTAAATTGTTATATACATTTCTCCACATTGCTTTATAGGCCTAACAACCATGTTTAAATTCTGTATCTTCATACAGAGGTAATATTTAAAAAAGAAGACGAAGACAAAAGGACTCCCTTCCCTCACCCATATACCTATGCCGTCTTACTGGGAGCAAACACTTCTTTAGCTCCGCAAAGCGATTGCACTTTCTCTTCCAAGTCGGCAGACGGCGCGCGAGCAGCGTAGGCACTGCTCCGCCTCCAATCCAGTTGCTCTTCTTTCTTTTCCT... | ATATATATACCTATTAATATTTGTAATAGACAATTTTGCTCTTTTCTACTTAAATTGTTATATACATTTCTCCACATTGCTTTATAGGCCTAACAACCATGTTTAAATTCTGTATCTTCATACAGAGGTAATATTTAAAAAAGAAGACGAAGACAAAAGGACTCCCTTCCCTCACCCATATACCTATGCCGTCTTACTGGGAGCAAACACTTCTTTAGCTCCGCAAAGCGATTGCACTTTCTCTTCCAAGTCGGCAGACGGCGCGCGAGCAGCGTAGGCACTGCTCCGCCTCCAATCCAGTTGCTCTTCTTTCTTTTCCT... | pathogenic | 76,038 |
Mutation found at chromosome 3 position 158646232, gene GFM1 (G elongation factor mitochondrial 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | TTAATATTTGTAATAGACAATTTTGCTCTTTTCTACTTAAATTGTTATATACATTTCTCCACATTGCTTTATAGGCCTAACAACCATGTTTAAATTCTGTATCTTCATACAGAGGTAATATTTAAAAAAGAAGACGAAGACAAAAGGACTCCCTTCCCTCACCCATATACCTATGCCGTCTTACTGGGAGCAAACACTTCTTTAGCTCCGCAAAGCGATTGCACTTTCTCTTCCAAGTCGGCAGACGGCGCGCGAGCAGCGTAGGCACTGCTCCGCCTCCAATCCAGTTGCTCTTCTTTCTTTTCCTCACTCTCTTTTTC... | TTAATATTTGTAATAGACAATTTTGCTCTTTTCTACTTAAATTGTTATATACATTTCTCCACATTGCTTTATAGGCCTAACAACCATGTTTAAATTCTGTATCTTCATACAGAGGTAATATTTAAAAAAGAAGACGAAGACAAAAGGACTCCCTTCCCTCACCCATATACCTATGCCGTCTTACTGGGAGCAAACACTTCTTTAGCTCCGCAAAGCGATTGCACTTTCTCTTCCAAGTCGGCAGACGGCGCGCGAGCAGCGTAGGCACTGCTCCGCCTCCAATCCAGTTGCTCTTCTTTCTTTTCCTCACTCTCTTTTTC... | pathogenic | 76,039 |
A genetic variant at chromosome 3, position 158646775, affecting gene GFM1 (G elongation factor mitochondrial 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | TAGAGAGGCTAAATCGGGACCATTCCCGGAACCTTGTGATCCCTTCTGGGCAATGGAAGGCCGTGACACCCCCTGGGTCCTCATGACTGACAGCTCCGAATACTGGCAGTCGCTCGTCAGTGCTGAAAAGCACCTCGGTGCCTGCACATTAGCTCGTTAGCTCGTTTGTTTCGCTCTCTGGTATCCCTAGGGTTTAATCAACTAAAAGTGTCTGTCACTCAGATACTTTGATATTTTATCCACCTTTTCTAAGGTTTTTTTTTTTTTTTTTTGCCTCTCTTTTCCCGTGAATAATTGTGCATTTTGGATGTGCAGTCCTA... | TAGAGAGGCTAAATCGGGACCATTCCCGGAACCTTGTGATCCCTTCTGGGCAATGGAAGGCCGTGACACCCCCTGGGTCCTCATGACTGACAGCTCCGAATACTGGCAGTCGCTCGTCAGTGCTGAAAAGCACCTCGGTGCCTGCACATTAGCTCGTTAGCTCGTTTGTTTCGCTCTCTGGTATCCCTAGGGTTTAATCAACTAAAAGTGTCTGTCACTCAGATACTTTGATATTTTATCCACCTTTTCTAAGGTTTTTTTTTTTTTTTTTTGCCTCTCTTTTCCCGTGAATAATTGTGCATTTTGGATGTGCAGTCCTA... | pathogenic | 76,044 |
Assess the variant on chromosome 3, position 158646798, impacting GFM1 (G elongation factor mitochondrial 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | TCCCGGAACCTTGTGATCCCTTCTGGGCAATGGAAGGCCGTGACACCCCCTGGGTCCTCATGACTGACAGCTCCGAATACTGGCAGTCGCTCGTCAGTGCTGAAAAGCACCTCGGTGCCTGCACATTAGCTCGTTAGCTCGTTTGTTTCGCTCTCTGGTATCCCTAGGGTTTAATCAACTAAAAGTGTCTGTCACTCAGATACTTTGATATTTTATCCACCTTTTCTAAGGTTTTTTTTTTTTTTTTTTGCCTCTCTTTTCCCGTGAATAATTGTGCATTTTGGATGTGCAGTCCTATAGGGAAAGGTTTATATTGTATC... | TCCCGGAACCTTGTGATCCCTTCTGGGCAATGGAAGGCCGTGACACCCCCTGGGTCCTCATGACTGACAGCTCCGAATACTGGCAGTCGCTCGTCAGTGCTGAAAAGCACCTCGGTGCCTGCACATTAGCTCGTTAGCTCGTTTGTTTCGCTCTCTGGTATCCCTAGGGTTTAATCAACTAAAAGTGTCTGTCACTCAGATACTTTGATATTTTATCCACCTTTTCTAAGGTTTTTTTTTTTTTTTTTTGCCTCTCTTTTCCCGTGAATAATTGTGCATTTTGGATGTGCAGTCCTATAGGGAAAGGTTTATATTGTATC... | pathogenic | 76,045 |
Is the variant located on chromosome 3 at position 158646911, gene GFM1 (G elongation factor mitochondrial 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | GGTGCCTGCACATTAGCTCGTTAGCTCGTTTGTTTCGCTCTCTGGTATCCCTAGGGTTTAATCAACTAAAAGTGTCTGTCACTCAGATACTTTGATATTTTATCCACCTTTTCTAAGGTTTTTTTTTTTTTTTTTTGCCTCTCTTTTCCCGTGAATAATTGTGCATTTTGGATGTGCAGTCCTATAGGGAAAGGTTTATATTGTATCTTCATTCCATCTAATAGGGATCCCCATCCCCTGCCACCAGAGTAAAGTTAAAACAAGCTTCATGAATTGTTTTTGTTTGGAGGGAATTGGAAATCTTTGGGGGCTGTCTTGGA... | GGTGCCTGCACATTAGCTCGTTAGCTCGTTTGTTTCGCTCTCTGGTATCCCTAGGGTTTAATCAACTAAAAGTGTCTGTCACTCAGATACTTTGATATTTTATCCACCTTTTCTAAGGTTTTTTTTTTTTTTTTTTGCCTCTCTTTTCCCGTGAATAATTGTGCATTTTGGATGTGCAGTCCTATAGGGAAAGGTTTATATTGTATCTTCATTCCATCTAATAGGGATCCCCATCCCCTGCCACCAGAGTAAAGTTAAAACAAGCTTCATGAATTGTTTTTGTTTGGAGGGAATTGGAAATCTTTGGGGGCTGTCTTGGA... | pathogenic | 76,049 |
Mutation found at chromosome 3 position 158652093, gene GFM1 (G elongation factor mitochondrial 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['GFM1-related_disorder', 'Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | GATCGCAGGTCTGGCAGGTGGGCGAATGGCATTGTGATCAGTGAACTATAGAATTTATCTTCATCAGCCATCTTGTAAGCAGGAAAAGGATGGAGTCTGTCCAGTGGATAAGGTGTTTCTCTCACTTTTTATGTAACAACTGAGTAATGACAACAAAGTTTACCTACCACTCCTTAGGATATAAGGCCCAGTAAGGCAGAGTTTTTGTTTTTCTTTTTTCCTACTTTATTCACTGCTATGTCCCAGCCCCTAGAACAACTAGTTACAACTAGGCAGTTGTAACTGCCTAGTACATAATAGGGACTCAAAAATATTTGTAA... | GATCGCAGGTCTGGCAGGTGGGCGAATGGCATTGTGATCAGTGAACTATAGAATTTATCTTCATCAGCCATCTTGTAAGCAGGAAAAGGATGGAGTCTGTCCAGTGGATAAGGTGTTTCTCTCACTTTTTATGTAACAACTGAGTAATGACAACAAAGTTTACCTACCACTCCTTAGGATATAAGGCCCAGTAAGGCAGAGTTTTTGTTTTTCTTTTTTCCTACTTTATTCACTGCTATGTCCCAGCCCCTAGAACAACTAGTTACAACTAGGCAGTTGTAACTGCCTAGTACATAATAGGGACTCAAAAATATTTGTAA... | pathogenic | 76,063 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 158652125, gene GFM1 (G elongation factor mitochondrial 1): what disease(s) if pathogenic? | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | TGTGATCAGTGAACTATAGAATTTATCTTCATCAGCCATCTTGTAAGCAGGAAAAGGATGGAGTCTGTCCAGTGGATAAGGTGTTTCTCTCACTTTTTATGTAACAACTGAGTAATGACAACAAAGTTTACCTACCACTCCTTAGGATATAAGGCCCAGTAAGGCAGAGTTTTTGTTTTTCTTTTTTCCTACTTTATTCACTGCTATGTCCCAGCCCCTAGAACAACTAGTTACAACTAGGCAGTTGTAACTGCCTAGTACATAATAGGGACTCAAAAATATTTGTAAATGAATGAATAAATCCACTTTCCCAGAATTAC... | TGTGATCAGTGAACTATAGAATTTATCTTCATCAGCCATCTTGTAAGCAGGAAAAGGATGGAGTCTGTCCAGTGGATAAGGTGTTTCTCTCACTTTTTATGTAACAACTGAGTAATGACAACAAAGTTTACCTACCACTCCTTAGGATATAAGGCCCAGTAAGGCAGAGTTTTTGTTTTTCTTTTTTCCTACTTTATTCACTGCTATGTCCCAGCCCCTAGAACAACTAGTTACAACTAGGCAGTTGTAACTGCCTAGTACATAATAGGGACTCAAAAATATTTGTAAATGAATGAATAAATCCACTTTCCCAGAATTAC... | pathogenic | 76,065 |
Chromosome 3, position 158652217, gene GFM1 (G elongation factor mitochondrial 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | CTTTTTATGTAACAACTGAGTAATGACAACAAAGTTTACCTACCACTCCTTAGGATATAAGGCCCAGTAAGGCAGAGTTTTTGTTTTTCTTTTTTCCTACTTTATTCACTGCTATGTCCCAGCCCCTAGAACAACTAGTTACAACTAGGCAGTTGTAACTGCCTAGTACATAATAGGGACTCAAAAATATTTGTAAATGAATGAATAAATCCACTTTCCCAGAATTACCAAGGCACATATTTCTGTTGTCAGAAGTAGAGACTCTTAAACTTTGTTGTACATCAGAACCACAGATGCAGCATCTTAATGTACATGTCCCC... | CTTTTTATGTAACAACTGAGTAATGACAACAAAGTTTACCTACCACTCCTTAGGATATAAGGCCCAGTAAGGCAGAGTTTTTGTTTTTCTTTTTTCCTACTTTATTCACTGCTATGTCCCAGCCCCTAGAACAACTAGTTACAACTAGGCAGTTGTAACTGCCTAGTACATAATAGGGACTCAAAAATATTTGTAAATGAATGAATAAATCCACTTTCCCAGAATTACCAAGGCACATATTTCTGTTGTCAGAAGTAGAGACTCTTAAACTTTGTTGTACATCAGAACCACAGATGCAGCATCTTAATGTACATGTCCCC... | pathogenic | 76,070 |
Evaluate this variant at chromosome 3, position 158653354, gene GFM1 (G elongation factor mitochondrial 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | GAGATTGTTATGTTGTGATTAATAAGAATATGATTAATACAATTTCAAAGAACTCAGATGGGCCCTAGGCAGGTTGGCTTTGAATCTTACCTCTTCTGTTTACTAGTAGGACAGCCTTGGGCAAATTACTTTGCCTGTGTAAGTTAGTTTCCTGATCTGAAAATGCAGATAATAGAAGCTACTTCATATGTGAAGATCAAATAAATAACTTGTCACATATTTAGTTTAGCGCTTACTGCATTATAAGTATTCAGTAAATGGATGCTGTTATTACTTTGCATGCCTGCCAGTTTTAAAATAATTAGAGTACAGTAAAAACT... | GAGATTGTTATGTTGTGATTAATAAGAATATGATTAATACAATTTCAAAGAACTCAGATGGGCCCTAGGCAGGTTGGCTTTGAATCTTACCTCTTCTGTTTACTAGTAGGACAGCCTTGGGCAAATTACTTTGCCTGTGTAAGTTAGTTTCCTGATCTGAAAATGCAGATAATAGAAGCTACTTCATATGTGAAGATCAAATAAATAACTTGTCACATATTTAGTTTAGCGCTTACTGCATTATAAGTATTCAGTAAATGGATGCTGTTATTACTTTGCATGCCTGCCAGTTTTAAAATAATTAGAGTACAGTAAAAACT... | pathogenic | 76,073 |
Variant in GFM1 (G elongation factor mitochondrial 1), chromosome 3, position 158653441—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | TACCTCTTCTGTTTACTAGTAGGACAGCCTTGGGCAAATTACTTTGCCTGTGTAAGTTAGTTTCCTGATCTGAAAATGCAGATAATAGAAGCTACTTCATATGTGAAGATCAAATAAATAACTTGTCACATATTTAGTTTAGCGCTTACTGCATTATAAGTATTCAGTAAATGGATGCTGTTATTACTTTGCATGCCTGCCAGTTTTAAAATAATTAGAGTACAGTAAAAACTACACTGAAGAGTTTAAACTTTGATTTAGGTGATACTTTGTCAAGTCATTGTTTTGAACTTGTATTTTACTGTATATTGAGTAAGGAT... | TACCTCTTCTGTTTACTAGTAGGACAGCCTTGGGCAAATTACTTTGCCTGTGTAAGTTAGTTTCCTGATCTGAAAATGCAGATAATAGAAGCTACTTCATATGTGAAGATCAAATAAATAACTTGTCACATATTTAGTTTAGCGCTTACTGCATTATAAGTATTCAGTAAATGGATGCTGTTATTACTTTGCATGCCTGCCAGTTTTAAAATAATTAGAGTACAGTAAAAACTACACTGAAGAGTTTAAACTTTGATTTAGGTGATACTTTGTCAAGTCATTGTTTTGAACTTGTATTTTACTGTATATTGAGTAAGGAT... | pathogenic | 76,076 |
Gene mutation in GFM1 (G elongation factor mitochondrial 1) at chromosome 3, position 158653465—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | CAGCCTTGGGCAAATTACTTTGCCTGTGTAAGTTAGTTTCCTGATCTGAAAATGCAGATAATAGAAGCTACTTCATATGTGAAGATCAAATAAATAACTTGTCACATATTTAGTTTAGCGCTTACTGCATTATAAGTATTCAGTAAATGGATGCTGTTATTACTTTGCATGCCTGCCAGTTTTAAAATAATTAGAGTACAGTAAAAACTACACTGAAGAGTTTAAACTTTGATTTAGGTGATACTTTGTCAAGTCATTGTTTTGAACTTGTATTTTACTGTATATTGAGTAAGGATAAACCAGGTTGCATTAAATTGGGA... | CAGCCTTGGGCAAATTACTTTGCCTGTGTAAGTTAGTTTCCTGATCTGAAAATGCAGATAATAGAAGCTACTTCATATGTGAAGATCAAATAAATAACTTGTCACATATTTAGTTTAGCGCTTACTGCATTATAAGTATTCAGTAAATGGATGCTGTTATTACTTTGCATGCCTGCCAGTTTTAAAATAATTAGAGTACAGTAAAAACTACACTGAAGAGTTTAAACTTTGATTTAGGTGATACTTTGTCAAGTCATTGTTTTGAACTTGTATTTTACTGTATATTGAGTAAGGATAAACCAGGTTGCATTAAATTGGGA... | pathogenic | 76,077 |
A genetic variant on chromosome 3, position 158658982, affects the gene GFM1 (G elongation factor mitochondrial 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | TATATTCCATGCCCTAACCCTAGAATCAGCCGTTCTCCAAGGAGCACTGGTTCCTTTTTAAGTAAAATGGTATTAGAAACCAAGATTTGGGGACTGGATGGGCTTTTTGTTGAAATGCTGTTGCTTCTGTACATAATATTTTAAGTGGGGAAAAATGGTAGATAAGTTGGAAGTGTTAAGAGTGGTTATTTCTGGGATGGGATTATATTTTGGGGGCTTTTTCTTACTTTAAAAATATTTTACAGTATATTTATTACCTCCAAAATGAGGGGAAAATTTTTTTAATTAAAAAGTGGAAATAACATTACAGTAAAAGTATT... | TATATTCCATGCCCTAACCCTAGAATCAGCCGTTCTCCAAGGAGCACTGGTTCCTTTTTAAGTAAAATGGTATTAGAAACCAAGATTTGGGGACTGGATGGGCTTTTTGTTGAAATGCTGTTGCTTCTGTACATAATATTTTAAGTGGGGAAAAATGGTAGATAAGTTGGAAGTGTTAAGAGTGGTTATTTCTGGGATGGGATTATATTTTGGGGGCTTTTTCTTACTTTAAAAATATTTTACAGTATATTTATTACCTCCAAAATGAGGGGAAAATTTTTTTAATTAAAAAGTGGAAATAACATTACAGTAAAAGTATT... | pathogenic | 76,084 |
Does the variant impacting GFM1 (G elongation factor mitochondrial 1) on chromosome 3, position 158659007, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | TCAGCCGTTCTCCAAGGAGCACTGGTTCCTTTTTAAGTAAAATGGTATTAGAAACCAAGATTTGGGGACTGGATGGGCTTTTTGTTGAAATGCTGTTGCTTCTGTACATAATATTTTAAGTGGGGAAAAATGGTAGATAAGTTGGAAGTGTTAAGAGTGGTTATTTCTGGGATGGGATTATATTTTGGGGGCTTTTTCTTACTTTAAAAATATTTTACAGTATATTTATTACCTCCAAAATGAGGGGAAAATTTTTTTAATTAAAAAGTGGAAATAACATTACAGTAAAAGTATTTACACATAAAGCTTTTAAAAATACA... | TCAGCCGTTCTCCAAGGAGCACTGGTTCCTTTTTAAGTAAAATGGTATTAGAAACCAAGATTTGGGGACTGGATGGGCTTTTTGTTGAAATGCTGTTGCTTCTGTACATAATATTTTAAGTGGGGAAAAATGGTAGATAAGTTGGAAGTGTTAAGAGTGGTTATTTCTGGGATGGGATTATATTTTGGGGGCTTTTTCTTACTTTAAAAATATTTTACAGTATATTTATTACCTCCAAAATGAGGGGAAAATTTTTTTAATTAAAAAGTGGAAATAACATTACAGTAAAAGTATTTACACATAAAGCTTTTAAAAATACA... | pathogenic | 76,085 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 158660906, gene GFM1 (G elongation factor mitochondrial 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | CTCAATACTTTGATTATTATGTTTCTTTTTATTCTTCCTGCCCTTACCCAATCTTGACTTCTAGGTAGGTCGATTTGGACAATTAACTTATGTTCGCAGTTATCAGGGAGAGCTAAAGAAGGGTGACACCATCTATAACACAAGGACAAGAAAGAAAGTACGGTTGCAACGGCTGGCTCGCATGCATGCCGACATGATGGAGGCAAGTACAGAGTCATTGTGAGATTAGAAATTCCTCTGATGTGGGTGAAATAGACCCTTCTTGGTATCCTGAGCCCCACTAGAAAATTAATTCTGGTTAAATATATGTTTCTAGTTTC... | CTCAATACTTTGATTATTATGTTTCTTTTTATTCTTCCTGCCCTTACCCAATCTTGACTTCTAGGTAGGTCGATTTGGACAATTAACTTATGTTCGCAGTTATCAGGGAGAGCTAAAGAAGGGTGACACCATCTATAACACAAGGACAAGAAAGAAAGTACGGTTGCAACGGCTGGCTCGCATGCATGCCGACATGATGGAGGCAAGTACAGAGTCATTGTGAGATTAGAAATTCCTCTGATGTGGGTGAAATAGACCCTTCTTGGTATCCTGAGCCCCACTAGAAAATTAATTCTGGTTAAATATATGTTTCTAGTTTC... | pathogenic | 76,088 |
Determine if the mutation at chromosome 3, position 158660945 in gene GFM1 (G elongation factor mitochondrial 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | GCCCTTACCCAATCTTGACTTCTAGGTAGGTCGATTTGGACAATTAACTTATGTTCGCAGTTATCAGGGAGAGCTAAAGAAGGGTGACACCATCTATAACACAAGGACAAGAAAGAAAGTACGGTTGCAACGGCTGGCTCGCATGCATGCCGACATGATGGAGGCAAGTACAGAGTCATTGTGAGATTAGAAATTCCTCTGATGTGGGTGAAATAGACCCTTCTTGGTATCCTGAGCCCCACTAGAAAATTAATTCTGGTTAAATATATGTTTCTAGTTTCTTTCTACTTAAATGTGTTGTAGCTCTGATCTAGCACTTT... | GCCCTTACCCAATCTTGACTTCTAGGTAGGTCGATTTGGACAATTAACTTATGTTCGCAGTTATCAGGGAGAGCTAAAGAAGGGTGACACCATCTATAACACAAGGACAAGAAAGAAAGTACGGTTGCAACGGCTGGCTCGCATGCATGCCGACATGATGGAGGCAAGTACAGAGTCATTGTGAGATTAGAAATTCCTCTGATGTGGGTGAAATAGACCCTTCTTGGTATCCTGAGCCCCACTAGAAAATTAATTCTGGTTAAATATATGTTTCTAGTTTCTTTCTACTTAAATGTGTTGTAGCTCTGATCTAGCACTTT... | pathogenic | 76,089 |
Variant on chromosome 3, at position 158665356, affecting GFM1 (G elongation factor mitochondrial 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | CTTTTTAGTTCTTAAGTTGCCTTGGCATTCATAACAATCATGTTAATGTGGTATATTGAAATTCACTTATTCATACATTGAGTGAACTTTTTATGATTTGTTATACAGAACTTATTACAAAACATACTCTGATGAATTGTCACGTGTGATAATATCACTAACAGCTGCTACTACTACATCTATTTTGAGGAACCTTGGGATTTTCCAGACCTTTTCTCAATATAGAAAAGAGAAAATTGAGGTGGCAGGAAATATTAAATTTCTCCATTTTCTCAGGAATTTGAGGAAAGGTGAACCTTACATCTTAACCTCAGTAGGAT... | CTTTTTAGTTCTTAAGTTGCCTTGGCATTCATAACAATCATGTTAATGTGGTATATTGAAATTCACTTATTCATACATTGAGTGAACTTTTTATGATTTGTTATACAGAACTTATTACAAAACATACTCTGATGAATTGTCACGTGTGATAATATCACTAACAGCTGCTACTACTACATCTATTTTGAGGAACCTTGGGATTTTCCAGACCTTTTCTCAATATAGAAAAGAGAAAATTGAGGTGGCAGGAAATATTAAATTTCTCCATTTTCTCAGGAATTTGAGGAAAGGTGAACCTTACATCTTAACCTCAGTAGGAT... | pathogenic | 76,098 |
Gene mutation in GFM1 (G elongation factor mitochondrial 1) at chromosome 3, position 158665379—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | GGCATTCATAACAATCATGTTAATGTGGTATATTGAAATTCACTTATTCATACATTGAGTGAACTTTTTATGATTTGTTATACAGAACTTATTACAAAACATACTCTGATGAATTGTCACGTGTGATAATATCACTAACAGCTGCTACTACTACATCTATTTTGAGGAACCTTGGGATTTTCCAGACCTTTTCTCAATATAGAAAAGAGAAAATTGAGGTGGCAGGAAATATTAAATTTCTCCATTTTCTCAGGAATTTGAGGAAAGGTGAACCTTACATCTTAACCTCAGTAGGATGCCATAGTTTATTCCAAGTACAT... | GGCATTCATAACAATCATGTTAATGTGGTATATTGAAATTCACTTATTCATACATTGAGTGAACTTTTTATGATTTGTTATACAGAACTTATTACAAAACATACTCTGATGAATTGTCACGTGTGATAATATCACTAACAGCTGCTACTACTACATCTATTTTGAGGAACCTTGGGATTTTCCAGACCTTTTCTCAATATAGAAAAGAGAAAATTGAGGTGGCAGGAAATATTAAATTTCTCCATTTTCTCAGGAATTTGAGGAAAGGTGAACCTTACATCTTAACCTCAGTAGGATGCCATAGTTTATTCCAAGTACAT... | pathogenic | 76,099 |
Variant on chromosome 3, at position 158666312, affecting GFM1 (G elongation factor mitochondrial 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | AAATATATACTTTTATAGTTCTGTGGATCATAGGCTGATAGCTGTTCTCAAAGGGCTAAATTAATCAAGATATTGGTAATGTTGTTTTCCTTTCTGGAGGCTCTATGGGAGAATTTCTCTCCTTCTTACTCAGGTTATTGGCAGTATTCAATTCCTTGTGGTTGTAGGATGGGGGTTCCCCATTTCTTTGAAGACTGTTACCTGAGGGCTGTTCCTAGCTTCTAGAGGCTACCCACCTTCCTTGGCTTGTGGCCCCCTGCCTCCATCTTCAGTGCCGTCAACAGCTGGTTAAGTCCCTTTCTTGCTTCAGATATCTCCTG... | AAATATATACTTTTATAGTTCTGTGGATCATAGGCTGATAGCTGTTCTCAAAGGGCTAAATTAATCAAGATATTGGTAATGTTGTTTTCCTTTCTGGAGGCTCTATGGGAGAATTTCTCTCCTTCTTACTCAGGTTATTGGCAGTATTCAATTCCTTGTGGTTGTAGGATGGGGGTTCCCCATTTCTTTGAAGACTGTTACCTGAGGGCTGTTCCTAGCTTCTAGAGGCTACCCACCTTCCTTGGCTTGTGGCCCCCTGCCTCCATCTTCAGTGCCGTCAACAGCTGGTTAAGTCCCTTTCTTGCTTCAGATATCTCCTG... | pathogenic | 76,103 |
Mutation at chromosome 3, position 158666380, within GFM1 (G elongation factor mitochondrial 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | GATATTGGTAATGTTGTTTTCCTTTCTGGAGGCTCTATGGGAGAATTTCTCTCCTTCTTACTCAGGTTATTGGCAGTATTCAATTCCTTGTGGTTGTAGGATGGGGGTTCCCCATTTCTTTGAAGACTGTTACCTGAGGGCTGTTCCTAGCTTCTAGAGGCTACCCACCTTCCTTGGCTTGTGGCCCCCTGCCTCCATCTTCAGTGCCGTCAACAGCTGGTTAAGTCCCTTTCTTGCTTCAGATATCTCCTGCCACTTCTTCCTTCATGGAATCCCTCTGACCCCCCCTTCTAGCTTCCTCCTCCATGTTTGAAAGGCAC... | GATATTGGTAATGTTGTTTTCCTTTCTGGAGGCTCTATGGGAGAATTTCTCTCCTTCTTACTCAGGTTATTGGCAGTATTCAATTCCTTGTGGTTGTAGGATGGGGGTTCCCCATTTCTTTGAAGACTGTTACCTGAGGGCTGTTCCTAGCTTCTAGAGGCTACCCACCTTCCTTGGCTTGTGGCCCCCTGCCTCCATCTTCAGTGCCGTCAACAGCTGGTTAAGTCCCTTTCTTGCTTCAGATATCTCCTGCCACTTCTTCCTTCATGGAATCCCTCTGACCCCCCCTTCTAGCTTCCTCCTCCATGTTTGAAAGGCAC... | pathogenic | 76,106 |
Located at chromosome 3 position 158682024, the variant affecting gene GFM1 (G elongation factor mitochondrial 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | GCTGTCTTAAAAACATAATTAGTAGAAATGCCCATTGCTTGCAACTTTGTTATGACTCTAAAGTCAAAACAAATCTGCAAATTTGAGGTAAACAGCAAAGCCAACACAATTCTTACATATATGTATATATATTTTTCGTTGTTGAAAACAATGTGGCCCTGACATAATTTTTCTTTTTCAATTAAAAAAAATAGATTTAGTGGGTACAGGTGTAGTTTTGTTATATGGATATATTGGGTAGTGGTGAAGTCTGGGCTTTTAGTGTAATCGTCTGCCAAATAGTATTCATTGTACCCAATAGGTGAGTTCTCATCCCTCAA... | GCTGTCTTAAAAACATAATTAGTAGAAATGCCCATTGCTTGCAACTTTGTTATGACTCTAAAGTCAAAACAAATCTGCAAATTTGAGGTAAACAGCAAAGCCAACACAATTCTTACATATATGTATATATATTTTTCGTTGTTGAAAACAATGTGGCCCTGACATAATTTTTCTTTTTCAATTAAAAAAAATAGATTTAGTGGGTACAGGTGTAGTTTTGTTATATGGATATATTGGGTAGTGGTGAAGTCTGGGCTTTTAGTGTAATCGTCTGCCAAATAGTATTCATTGTACCCAATAGGTGAGTTCTCATCCCTCAA... | pathogenic | 76,117 |
Is the genetic mutation found on chromosome 3 at position 158684521, within the gene GFM1 (G elongation factor mitochondrial 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | TGTGTACTATTGCAGCAGAATGATCATTCTTTAGATTCCCAACACCTGGGTGCTACTGTCTCATGTCTACTACTGATTAATATGCTTTGTTAAATCAGTATTCAGAACTGTTTCTTCATTTGTAAACTGAGAGAAAATACTTAAACCTGCACCCCTCACAAAATTGAGGATCAGATAAGACTATGTGACATTTCCTTGGAGAAGTGCTTTGCACATATGAGGGGTTAGTGTTTTGTTTGCTTTCCAGTCATTTGCTTTATGACTGTCATAGGCCGGGCATGATGGTTCATGCCTGTAATCCTAACATTTTGGGAGGCCGA... | TGTGTACTATTGCAGCAGAATGATCATTCTTTAGATTCCCAACACCTGGGTGCTACTGTCTCATGTCTACTACTGATTAATATGCTTTGTTAAATCAGTATTCAGAACTGTTTCTTCATTTGTAAACTGAGAGAAAATACTTAAACCTGCACCCCTCACAAAATTGAGGATCAGATAAGACTATGTGACATTTCCTTGGAGAAGTGCTTTGCACATATGAGGGGTTAGTGTTTTGTTTGCTTTCCAGTCATTTGCTTTATGACTGTCATAGGCCGGGCATGATGGTTCATGCCTGTAATCCTAACATTTTGGGAGGCCGA... | pathogenic | 76,121 |
Evaluate this variant at chromosome 3, position 158684588, gene GFM1 (G elongation factor mitochondrial 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hepatoencephalopathy_due_to_combined_oxidative_phosphorylation_defect_type_1'] | TACTACTGATTAATATGCTTTGTTAAATCAGTATTCAGAACTGTTTCTTCATTTGTAAACTGAGAGAAAATACTTAAACCTGCACCCCTCACAAAATTGAGGATCAGATAAGACTATGTGACATTTCCTTGGAGAAGTGCTTTGCACATATGAGGGGTTAGTGTTTTGTTTGCTTTCCAGTCATTTGCTTTATGACTGTCATAGGCCGGGCATGATGGTTCATGCCTGTAATCCTAACATTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGCCCAGGAGTTTGAGACCAGCGTGGGCAACATGCTGAAACCCTGTCTCT... | TACTACTGATTAATATGCTTTGTTAAATCAGTATTCAGAACTGTTTCTTCATTTGTAAACTGAGAGAAAATACTTAAACCTGCACCCCTCACAAAATTGAGGATCAGATAAGACTATGTGACATTTCCTTGGAGAAGTGCTTTGCACATATGAGGGGTTAGTGTTTTGTTTGCTTTCCAGTCATTTGCTTTATGACTGTCATAGGCCGGGCATGATGGTTCATGCCTGTAATCCTAACATTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGCCCAGGAGTTTGAGACCAGCGTGGGCAACATGCTGAAACCCTGTCTCT... | pathogenic | 76,124 |
Considering the genetic mutation at chromosome 3, position 158691317, impacting GFM1 (G elongation factor mitochondrial 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CCAATCTAGTCCGGAATCCTTATTTTGTAGATGAAAAAATTTGAGACCTGGACAAATTGTGTTTTTCCAGAAGGCATATAGCTTCTTTGAGGTAGAGCAAAAACTAGAAACTTGATCTTCTCATTCTCAATCAGGTGATGAAATTGTTCAGACTAGAAAAGGAAAGACAGATCGTAGGCGTGGCTTGATTCTTGCTTCTGAGTATAGGAAGGGTACCCTCCACGTCCCCTCCTGCCCTGTGACAAAAATTATTTTCTTATAATTAAAAATAACTGCCTGCCAGGGACCACAAGAAAGAATGGGTTTATCCAGCCTGGCCA... | CCAATCTAGTCCGGAATCCTTATTTTGTAGATGAAAAAATTTGAGACCTGGACAAATTGTGTTTTTCCAGAAGGCATATAGCTTCTTTGAGGTAGAGCAAAAACTAGAAACTTGATCTTCTCATTCTCAATCAGGTGATGAAATTGTTCAGACTAGAAAAGGAAAGACAGATCGTAGGCGTGGCTTGATTCTTGCTTCTGAGTATAGGAAGGGTACCCTCCACGTCCCCTCCTGCCCTGTGACAAAAATTATTTTCTTATAATTAAAAATAACTGCCTGCCAGGGACCACAAGAAAGAATGGGTTTATCCAGCCTGGCCA... | benign | 76,140 |
Variant in IFT80, chromosome 3, position 160258644—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | CCAGCACCTCGGGAGACCGAGGAGCACGGATCACTAGAGGTCAGGAATTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCACTTGTAATCCCAGCTACTTAGGAGGCTGAGGCACTAGAATTGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCTGTGATGGGGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGACCCTGTCTCAAAAAATAAATAAACAAATAAATAAATAAAGGCAGTCTTTTTGGGAACCTTGCCCTTTAA... | CCAGCACCTCGGGAGACCGAGGAGCACGGATCACTAGAGGTCAGGAATTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCACTTGTAATCCCAGCTACTTAGGAGGCTGAGGCACTAGAATTGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCTGTGATGGGGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGACCCTGTCTCAAAAAATAAATAAACAAATAAATAAATAAAGGCAGTCTTTTTGGGAACCTTGCCCTTTAA... | benign | 76,149 |
Variant in gene IFT80, located at chromosome 3 position 160277443: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Asphyxiating_thoracic_dystrophy_2', 'Jeune_thoracic_dystrophy'] | TGTTTTTACTGGATTACTGTTTATCTCTCTAATTATTTATCTTTGCAGATATTTATGTTATCTTTCCCCTTATGGATTATATGCTTCCTGAACAGCAGAAACATTTTACATTACCTTTACATAGTAGGTAGTTAATATTCATTCTATGTGCAATACTCTTCATCATTTTGACATTTGACTATTATTAATGACAACGAAATGGAATTCCTAATTAGGTTACAAGCTTTTTAAGATAAAGACCATTACCTTAAATTTTTTTTTGTTAAATTGTACAGTATTCAGAATGCTATAGCAAGAGTAGTGTCTACGATTTCAACATA... | TGTTTTTACTGGATTACTGTTTATCTCTCTAATTATTTATCTTTGCAGATATTTATGTTATCTTTCCCCTTATGGATTATATGCTTCCTGAACAGCAGAAACATTTTACATTACCTTTACATAGTAGGTAGTTAATATTCATTCTATGTGCAATACTCTTCATCATTTTGACATTTGACTATTATTAATGACAACGAAATGGAATTCCTAATTAGGTTACAAGCTTTTTAAGATAAAGACCATTACCTTAAATTTTTTTTTGTTAAATTGTACAGTATTCAGAATGCTATAGCAAGAGTAGTGTCTACGATTTCAACATA... | pathogenic | 76,151 |
Considering the genetic mutation at chromosome 3, position 160319847, impacting IFT80: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Jeune_thoracic_dystrophy'] | AAATGCAGGACAGAAAACAGAGATAGAAGGGGACTCTTCAGACCAAAAGAGACTTAAAAGATACATCAGCCATTGCAATATGTAAAACTGGATCCTGATTCAAACAAAGTTTTGTGGCATGTAGGAAACAACTGGACATTTAAACACTTTGTGGATATTTGATAATATTAAGAAATTATTATTATTATTATATAATATGATAATGGTAGTGTGGTTATATTAAAACAGAGTCCTTATCTTTTAGTTATATATACTAAAATATTTATAAATGAAATACAATGTCTGAATTTGGGGAGCAAGGAAAGTAGATAGGACATGGA... | AAATGCAGGACAGAAAACAGAGATAGAAGGGGACTCTTCAGACCAAAAGAGACTTAAAAGATACATCAGCCATTGCAATATGTAAAACTGGATCCTGATTCAAACAAAGTTTTGTGGCATGTAGGAAACAACTGGACATTTAAACACTTTGTGGATATTTGATAATATTAAGAAATTATTATTATTATTATATAATATGATAATGGTAGTGTGGTTATATTAAAACAGAGTCCTTATCTTTTAGTTATATATACTAAAATATTTATAAATGAAATACAATGTCTGAATTTGGGGAGCAAGGAAAGTAGATAGGACATGGA... | pathogenic | 76,168 |
Determine whether the variant at chromosome 3, position 160375839, in gene IFT80 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Asphyxiating_thoracic_dystrophy_2', 'Jeune_thoracic_dystrophy'] | ATGTCACCACTGATCTGACAGGAGGTGTAGGTCAGGCAGTAATGGAAGTGATGGGGAACAGCTGTAAATACAGATAAAGCTTTACTCACTCGCCCACCCACTGCTCATCTCCTGCTGTACTGCCCAGTTCCTAACAGACAGCAGACAGCTACTGGTCTGTGGCCCAAGGGTTGGGGACCCCTGACATAGACTAAACAATTAACAATGTTTATATTAAACAACTTATTCCAAGTTTCCATTTTAGACTCTGGAACATCTGAAATGGTGAATCCACAGGTAGTAAATGGGAAGGAGATAACAGAAAAATTGAAGGAAGTGGA... | ATGTCACCACTGATCTGACAGGAGGTGTAGGTCAGGCAGTAATGGAAGTGATGGGGAACAGCTGTAAATACAGATAAAGCTTTACTCACTCGCCCACCCACTGCTCATCTCCTGCTGTACTGCCCAGTTCCTAACAGACAGCAGACAGCTACTGGTCTGTGGCCCAAGGGTTGGGGACCCCTGACATAGACTAAACAATTAACAATGTTTATATTAAACAACTTATTCCAAGTTTCCATTTTAGACTCTGGAACATCTGAAATGGTGAATCCACAGGTAGTAAATGGGAAGGAGATAACAGAAAAATTGAAGGAAGTGGA... | pathogenic | 76,174 |
Evaluate if the mutation on chromosome 3 at position 164983063 in SI (sucrase-isomaltase) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GACTTAATTTCTTTGTCACCCACATAAGACTACTGGACTAGATCAGGTATTCTGGAATTTTATAAATCAGTCAAATTATAAAAATAAAAATATGAGTGTAAGGCACTAAGATATTAACTTTTATTTTACCGAGGAAGGACATTAAATATATCAAAGTTGGGAAATTTTATTTTATATTTCCTATTCTTGATACAGTTTTAAGAAAAATAGCGAGTTGCAGTGCAAAAGCAGTAAGAAAAACATAGTTCCATATTAAAGGAAAACCCCACTTGTCAACAAAACAGCAGTAGCAGTAGGATGGGTGTTGAGTTTCAAAAAGA... | GACTTAATTTCTTTGTCACCCACATAAGACTACTGGACTAGATCAGGTATTCTGGAATTTTATAAATCAGTCAAATTATAAAAATAAAAATATGAGTGTAAGGCACTAAGATATTAACTTTTATTTTACCGAGGAAGGACATTAAATATATCAAAGTTGGGAAATTTTATTTTATATTTCCTATTCTTGATACAGTTTTAAGAAAAATAGCGAGTTGCAGTGCAAAAGCAGTAAGAAAAACATAGTTCCATATTAAAGGAAAACCCCACTTGTCAACAAAACAGCAGTAGCAGTAGGATGGGTGTTGAGTTTCAAAAAGA... | benign | 76,186 |
Gene SI (sucrase-isomaltase) variant at chromosome position 165007954 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Sucrase-isomaltase_deficiency'] | CTGGCCAGAAGATTTCAATCACTGCAAAACTTGTATTGGAAAGTGCTAATAAAGAATTGATTTTCAGTGAATGGTCTGTATTCCATCATCATTGGCCTTACATAAAAGTTTGTTAAAAATGCAGATAATTACTATGATCATTAATATTTGAGAAGTTCATTAAAAGTGCTCTAATTTACTAATAATGAATTTATTTATTTTATGTTTTTATTTTTATTTTGAAACAGAGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCGCCCAGGTCCAAGCGATTCTTGTGCCTC... | CTGGCCAGAAGATTTCAATCACTGCAAAACTTGTATTGGAAAGTGCTAATAAAGAATTGATTTTCAGTGAATGGTCTGTATTCCATCATCATTGGCCTTACATAAAAGTTTGTTAAAAATGCAGATAATTACTATGATCATTAATATTTGAGAAGTTCATTAAAAGTGCTCTAATTTACTAATAATGAATTTATTTATTTTATGTTTTTATTTTTATTTTGAAACAGAGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCGCCCAGGTCCAAGCGATTCTTGTGCCTC... | pathogenic | 76,209 |
Benign or pathogenic: chromosome 3, position 165009363, gene SI (sucrase-isomaltase) variant? Disease(s) if pathogenic? | pathogenic; ['Sucrase-isomaltase_deficiency'] | TTTTCTCAGTTTAAGATTTTTTTCCAGAGTTTTGCCATCACTTAATATGCTAATAGTTTGTGACGTTTTCTGCCTGCATAAGAGAATGATGATGAATATGAAACATCACATTCATCTTCATTTCCTTCTATGTCAAAGGTAAACAGATAAGTGTTAGCATTCTTTCCCTTATCCTTAGTAAAGAAACACTTCTAAAAACTTCCTTTCAAAATAATTTTATTTTTTATCTTAAAGAGTATTTAACATTTTTTGAATCTGGGAAAATTATTAAGCAAACCAAAATAACAACTTCAAACAAATTTAGAATTGTGTTCATGTAG... | TTTTCTCAGTTTAAGATTTTTTTCCAGAGTTTTGCCATCACTTAATATGCTAATAGTTTGTGACGTTTTCTGCCTGCATAAGAGAATGATGATGAATATGAAACATCACATTCATCTTCATTTCCTTCTATGTCAAAGGTAAACAGATAAGTGTTAGCATTCTTTCCCTTATCCTTAGTAAAGAAACACTTCTAAAAACTTCCTTTCAAAATAATTTTATTTTTTATCTTAAAGAGTATTTAACATTTTTTGAATCTGGGAAAATTATTAAGCAAACCAAAATAACAACTTCAAACAAATTTAGAATTGTGTTCATGTAG... | pathogenic | 76,210 |
Is chromosome 3, position 165017677, gene SI (sucrase-isomaltase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TTGTATAAAAATAGAAAATCTACCATTACATTTTGATAACTCCCATAAATAGAGGCCAATTTGTAGCTTGGATGATAACTAGAAAACAGCTTCCCTTTAACTCAGCTTTGGTTTTAAATCTCTAGGGATATACCTAAATACAAAGGTAGCTGATCACAACCCATGCAAATAAAATGAAGTGCTAAAGGAAGAGAGTTTTAGATTTGGGAGTGTTACTCAAAGTTATATACTTTCTATTTTGAAACATCTTCCCCCCCACCTGCTCATTTTAGGTGAATTAATGGAAACAAGAAATAAGACTCAGGTAAACTCCAAGTACT... | TTGTATAAAAATAGAAAATCTACCATTACATTTTGATAACTCCCATAAATAGAGGCCAATTTGTAGCTTGGATGATAACTAGAAAACAGCTTCCCTTTAACTCAGCTTTGGTTTTAAATCTCTAGGGATATACCTAAATACAAAGGTAGCTGATCACAACCCATGCAAATAAAATGAAGTGCTAAAGGAAGAGAGTTTTAGATTTGGGAGTGTTACTCAAAGTTATATACTTTCTATTTTGAAACATCTTCCCCCCCACCTGCTCATTTTAGGTGAATTAATGGAAACAAGAAATAAGACTCAGGTAAACTCCAAGTACT... | benign | 76,222 |
Does the variant on chromosome 3 at location 165021295 affecting gene SI (sucrase-isomaltase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Sucrase-isomaltase_deficiency'] | TCAAGGAAAACTTTAGGCAGTTATTTTCTAAAAGCTGGAGTAAAGGTAAACTTGACAGGGAATACAGAATCAGCATATTCTTTGTATGCATTTGAAACAGTTAAGGTATTGAGTCAAAGCCTGGCTTCTCACAGTAGTCAAGCAAATTGTTATCCATCCACTCCTCTACTTCCACCTGTAATTTATGGTGACTTTTTGGGTTTGTTTCTCAGAAAATTGCTATAGCTGCTCTGGAGATCTCTAGCTAATGCCTTTGTCATTACTTCAATCCTAAAGCACAGGCCCATAAAGAAGTGGCTTGGATTCTACTCATGGTCTTA... | TCAAGGAAAACTTTAGGCAGTTATTTTCTAAAAGCTGGAGTAAAGGTAAACTTGACAGGGAATACAGAATCAGCATATTCTTTGTATGCATTTGAAACAGTTAAGGTATTGAGTCAAAGCCTGGCTTCTCACAGTAGTCAAGCAAATTGTTATCCATCCACTCCTCTACTTCCACCTGTAATTTATGGTGACTTTTTGGGTTTGTTTCTCAGAAAATTGCTATAGCTGCTCTGGAGATCTCTAGCTAATGCCTTTGTCATTACTTCAATCCTAAAGCACAGGCCCATAAAGAAGTGGCTTGGATTCTACTCATGGTCTTA... | pathogenic | 76,232 |
Determine if the mutation at chromosome 3, position 165023722 in gene SI (sucrase-isomaltase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Sucrase-isomaltase_deficiency'] | GTATGGGTATACCAAAATTATTTCATGGTTAAAAACAGAAGTTGTTTCAATATTTTTTGTCATACATATTATTATACAATAAACCCTAATGCTAATTTATGTTTATTTGTGTTTTTATTTCTTCAGCACATTTCTTAAATACCACTAGGGTCTGAGTATACTTACCGTTTTAGGGTCTTTGATAACTATTGACAAACTGCTTTCCAGAATTTGTTTACTGATTAATATTCTCACCAAAATGTGTACTCTAATGCTAATTTATGTTAAATTAAAAGCATTTATTTTTCATTGTTAATCATTTCATTTCCTACTTATGAGGT... | GTATGGGTATACCAAAATTATTTCATGGTTAAAAACAGAAGTTGTTTCAATATTTTTTGTCATACATATTATTATACAATAAACCCTAATGCTAATTTATGTTTATTTGTGTTTTTATTTCTTCAGCACATTTCTTAAATACCACTAGGGTCTGAGTATACTTACCGTTTTAGGGTCTTTGATAACTATTGACAAACTGCTTTCCAGAATTTGTTTACTGATTAATATTCTCACCAAAATGTGTACTCTAATGCTAATTTATGTTAAATTAAAAGCATTTATTTTTCATTGTTAATCATTTCATTTCCTACTTATGAGGT... | pathogenic | 76,235 |
Evaluate this variant at chromosome 3, position 165030875, gene SI (sucrase-isomaltase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | ACAAAAATTCTAGAAGATAGCATTCTAGAAATTGTCTCAGGCAAGGATTTGATGACCAAAAACAAAAGCAAATCCAATAAAAACAAAGACAAACATCTGGGACTTAATTAAACTAAGATCTTTTGCAGTGCAAAAGGAACAGTCAGCAGAGTAAACAGACAACCCACAGAGTGGGAGAAAATCTTCACCATCTATACATCTGACAAAGAACGAATATCCAGAATCTACAACAAACTCAAATAATTTAGCAGGAAAAAACAAACAAACAATCCCTTCAAAAAGTGGACTAAAGGCATGAATAGACAAATCTCAAAAGAAAA... | ACAAAAATTCTAGAAGATAGCATTCTAGAAATTGTCTCAGGCAAGGATTTGATGACCAAAAACAAAAGCAAATCCAATAAAAACAAAGACAAACATCTGGGACTTAATTAAACTAAGATCTTTTGCAGTGCAAAAGGAACAGTCAGCAGAGTAAACAGACAACCCACAGAGTGGGAGAAAATCTTCACCATCTATACATCTGACAAAGAACGAATATCCAGAATCTACAACAAACTCAAATAATTTAGCAGGAAAAAACAAACAAACAATCCCTTCAAAAAGTGGACTAAAGGCATGAATAGACAAATCTCAAAAGAAAA... | benign | 76,244 |
Is the genetic variant on chromosome 3, position 165030877, gene SI (sucrase-isomaltase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AAAAATTCTAGAAGATAGCATTCTAGAAATTGTCTCAGGCAAGGATTTGATGACCAAAAACAAAAGCAAATCCAATAAAAACAAAGACAAACATCTGGGACTTAATTAAACTAAGATCTTTTGCAGTGCAAAAGGAACAGTCAGCAGAGTAAACAGACAACCCACAGAGTGGGAGAAAATCTTCACCATCTATACATCTGACAAAGAACGAATATCCAGAATCTACAACAAACTCAAATAATTTAGCAGGAAAAAACAAACAAACAATCCCTTCAAAAAGTGGACTAAAGGCATGAATAGACAAATCTCAAAAGAAAAGA... | AAAAATTCTAGAAGATAGCATTCTAGAAATTGTCTCAGGCAAGGATTTGATGACCAAAAACAAAAGCAAATCCAATAAAAACAAAGACAAACATCTGGGACTTAATTAAACTAAGATCTTTTGCAGTGCAAAAGGAACAGTCAGCAGAGTAAACAGACAACCCACAGAGTGGGAGAAAATCTTCACCATCTATACATCTGACAAAGAACGAATATCCAGAATCTACAACAAACTCAAATAATTTAGCAGGAAAAAACAAACAAACAATCCCTTCAAAAAGTGGACTAAAGGCATGAATAGACAAATCTCAAAAGAAAAGA... | benign | 76,245 |
Gene SI (sucrase-isomaltase) variant at chromosome position 165030877 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AAAAATTCTAGAAGATAGCATTCTAGAAATTGTCTCAGGCAAGGATTTGATGACCAAAAACAAAAGCAAATCCAATAAAAACAAAGACAAACATCTGGGACTTAATTAAACTAAGATCTTTTGCAGTGCAAAAGGAACAGTCAGCAGAGTAAACAGACAACCCACAGAGTGGGAGAAAATCTTCACCATCTATACATCTGACAAAGAACGAATATCCAGAATCTACAACAAACTCAAATAATTTAGCAGGAAAAAACAAACAAACAATCCCTTCAAAAAGTGGACTAAAGGCATGAATAGACAAATCTCAAAAGAAAAGA... | AAAAATTCTAGAAGATAGCATTCTAGAAATTGTCTCAGGCAAGGATTTGATGACCAAAAACAAAAGCAAATCCAATAAAAACAAAGACAAACATCTGGGACTTAATTAAACTAAGATCTTTTGCAGTGCAAAAGGAACAGTCAGCAGAGTAAACAGACAACCCACAGAGTGGGAGAAAATCTTCACCATCTATACATCTGACAAAGAACGAATATCCAGAATCTACAACAAACTCAAATAATTTAGCAGGAAAAAACAAACAAACAATCCCTTCAAAAAGTGGACTAAAGGCATGAATAGACAAATCTCAAAAGAAAAGA... | benign | 76,246 |
Is chromosome 3, position 165030877, gene SI (sucrase-isomaltase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AAAAATTCTAGAAGATAGCATTCTAGAAATTGTCTCAGGCAAGGATTTGATGACCAAAAACAAAAGCAAATCCAATAAAAACAAAGACAAACATCTGGGACTTAATTAAACTAAGATCTTTTGCAGTGCAAAAGGAACAGTCAGCAGAGTAAACAGACAACCCACAGAGTGGGAGAAAATCTTCACCATCTATACATCTGACAAAGAACGAATATCCAGAATCTACAACAAACTCAAATAATTTAGCAGGAAAAAACAAACAAACAATCCCTTCAAAAAGTGGACTAAAGGCATGAATAGACAAATCTCAAAAGAAAAGA... | AAAAATTCTAGAAGATAGCATTCTAGAAATTGTCTCAGGCAAGGATTTGATGACCAAAAACAAAAGCAAATCCAATAAAAACAAAGACAAACATCTGGGACTTAATTAAACTAAGATCTTTTGCAGTGCAAAAGGAACAGTCAGCAGAGTAAACAGACAACCCACAGAGTGGGAGAAAATCTTCACCATCTATACATCTGACAAAGAACGAATATCCAGAATCTACAACAAACTCAAATAATTTAGCAGGAAAAAACAAACAAACAATCCCTTCAAAAAGTGGACTAAAGGCATGAATAGACAAATCTCAAAAGAAAAGA... | benign | 76,247 |
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