question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
A genetic variant at chromosome 4, position 5694335, affecting gene EVC2 (EvC ciliary complex subunit 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | CAAGGTGCTGGGATTATAAACGTGAGCCACCACACTGGGCCTAATAACCATAAAATGTCTGTCATTGGCTGAGGGCCAGGCATGGCAGCCATCACTTTACATACATGAGTTCTATTACTCCCATTTTATAGATGAGGAAACTAAGACTCAGAAAGGTTAATACTCTTGCCAAAGATTACTCAGGCAGGAAGCTCGAGACTCTCCCCAGGCCTGTGTGACTCCAAATCCTGTGATCTTTCCACAACATGCATTCCCTCTCCACAGTGTAACCCTCTCATTGTGTAGAAAATTAACAAAAATGCCGGGCGCGGTGGCTCACG... | CAAGGTGCTGGGATTATAAACGTGAGCCACCACACTGGGCCTAATAACCATAAAATGTCTGTCATTGGCTGAGGGCCAGGCATGGCAGCCATCACTTTACATACATGAGTTCTATTACTCCCATTTTATAGATGAGGAAACTAAGACTCAGAAAGGTTAATACTCTTGCCAAAGATTACTCAGGCAGGAAGCTCGAGACTCTCCCCAGGCCTGTGTGACTCCAAATCCTGTGATCTTTCCACAACATGCATTCCCTCTCCACAGTGTAACCCTCTCATTGTGTAGAAAATTAACAAAAATGCCGGGCGCGGTGGCTCACG... | pathogenic | 79,686 |
The genetic variant at chromosome 4, position 5697602, affecting gene EVC2 (EvC ciliary complex subunit 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | CTCTGGGCCTCAGTTCCCCTCACCTGGGTGTGTGGTTAAGATACCAATCAGACAGGGCTGTTGTCTGAGCAGCCAATCAAATGCCACACTGCACATGAAAGTGCTTAGATGTATCCAATGCTTCAAGTCAGCAATTTTAGTTTTGAAATGACCTGGATGGTGGCATTGTGCCTTCTTCAACATTTGTCTTTTATTCAAATACAAACTAATTTGACTGAAAATAAGGTGTACTTTTCAGTCTTTCTTACCCAGCATATTGATGGTAAAGACTACAAGTGCTTTTGAAACTTTCTATAGAATTTCAAAATATATGCAGGAAA... | CTCTGGGCCTCAGTTCCCCTCACCTGGGTGTGTGGTTAAGATACCAATCAGACAGGGCTGTTGTCTGAGCAGCCAATCAAATGCCACACTGCACATGAAAGTGCTTAGATGTATCCAATGCTTCAAGTCAGCAATTTTAGTTTTGAAATGACCTGGATGGTGGCATTGTGCCTTCTTCAACATTTGTCTTTTATTCAAATACAAACTAATTTGACTGAAAATAAGGTGTACTTTTCAGTCTTTCTTACCCAGCATATTGATGGTAAAGACTACAAGTGCTTTTGAAACTTTCTATAGAATTTCAAAATATATGCAGGAAA... | pathogenic | 79,694 |
Mutation found at chromosome 4 position 5708264, gene EVC2 (EvC ciliary complex subunit 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GCAATCACTGTGTGCAATTAGGCATTGGTCTCCCAGCCCCCTGCACACAGCATGGGACTTAGCAAAGGTGCAATAAATATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATA... | GCAATCACTGTGTGCAATTAGGCATTGGTCTCCCAGCCCCCTGCACACAGCATGGGACTTAGCAAAGGTGCAATAAATATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATA... | pathogenic | 79,698 |
Is the genetic variant on chromosome 4, position 5708305, gene EVC2 (EvC ciliary complex subunit 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TGCACACAGCATGGGACTTAGCAAAGGTGCAATAAATATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTG... | TGCACACAGCATGGGACTTAGCAAAGGTGCAATAAATATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTG... | pathogenic | 79,699 |
Does the genetic variant at chromosome 4, position 5708315, impacting gene EVC2 (EvC ciliary complex subunit 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | ATGGGACTTAGCAAAGGTGCAATAAATATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGA... | ATGGGACTTAGCAAAGGTGCAATAAATATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGA... | pathogenic | 79,700 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 5708362, gene EVC2 (EvC ciliary complex subunit 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | ATAGATACATAGATAGATAGATAGATACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGG... | ATAGATACATAGATAGATAGATAGATACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGG... | pathogenic | 79,701 |
Does the variant on chromosome 4 at location 5708387 affecting gene EVC2 (EvC ciliary complex subunit 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAA... | TACATAGATAGATAGACACATAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAA... | pathogenic | 79,703 |
Gene mutation in EVC2 (EvC ciliary complex subunit 2) at chromosome 4, position 5708451—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGG... | TAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGG... | pathogenic | 79,705 |
Regarding the variant found on chromosome 4 at position 5708463 in gene EVC2 (EvC ciliary complex subunit 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACA... | TAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACA... | pathogenic | 79,707 |
Considering the variant on chromosome 4, location 5708483, involving gene EVC2 (EvC ciliary complex subunit 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACAGGCCCAGAGAGACGGAAGAA... | TAGATAGATAGATACATACATACATACATACATACATACATAGATAATATTGAATGAATGGATGGATAGATGGTATCAAGTAATTACATGAAGGCATCATATAATTACAATAGGAAGAACTAACCTGTGCCTTCGGGAACTGTGCTCTGGGAACAGCCCTTACACCATTGCTCAGAAGAGGAAGCAGAGACCCTGAGGGCTGTGACTTGTCCCAGGCCCCACAAGAGGGAGTGGCCAAGGCAGGGACACACATGGCCAGAGCTCTTTCCTGTACAGTGTGCAGAAGGGCTATGCAAGACAGGCCCAGAGAGACGGAAGAA... | pathogenic | 79,708 |
Regarding the variant found on chromosome 4 at position 5711351 in gene EVC: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCA... | GAGCCTTTTGTGTGCTTCCTCATCCCTGCCTAGGTCCTGGGTGACAGCTGACACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCA... | pathogenic | 79,717 |
Considering the variant on chromosome 4, location 5711403, involving gene EVC, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | ACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTT... | ACCTGTTGACGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTT... | pathogenic | 79,719 |
Variant on chromosome 4, at position 5711412, affecting EVC (EvC ciliary complex subunit 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | CGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAA... | CGGGGGAGGGCTCCACTCCCGCCAGCCTTCCTGCGGGGCAGGCTGTTAGGCTGTCTATAAAGTCTCAGGCCAGCGAGCCTGGCCCCTGGCAGCCTCTCTCCCCATAACCCAGACCATCCAAGGACAGGCCTTTCCTGACCTAACATGGACAAGGCCATGGGGTTCGAGAAGCTGAGAATTTATAAGCCAAGTTCCCCACACCAGGGGGTACGTGGCAGCTGTCAGGCATGTGACAAGACCACAGGCTAAATGCCAAGCATGTTGCTGGACCGTTGGAGTTGTTTGACAGTCAGTCATTTAAAGGTTAATTTAATAGTCAA... | pathogenic | 79,720 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 5719274, gene EVC (EvC ciliary complex subunit 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TCAATTTTGAAGAGTCATTTTTTTGTTCTGAGAATGTTCTATCCTGTCCTTATTTTATGAATGGAATACCTTCTCTGATCTCTCTGATAATATTTTAGTTGTTTATTTGTTTAAAGTTTTTTTTCCCTGTGTAGTGCGTTCCCTGCTTGCTTTTTCCTTTTGTTTGTTTTGGATTTTATCTTTCATATTAGAGTCTGTCCTCAAATGGCTAGTGACCCTCTAGACATTTTCAAGTGATGCTGATGCTCCCTCTGTGGGATATATATATTTTTTCCTCAATGTCTTTACTGTAGGACTATCTGACTGGGTTCTTCTTTGCA... | TCAATTTTGAAGAGTCATTTTTTTGTTCTGAGAATGTTCTATCCTGTCCTTATTTTATGAATGGAATACCTTCTCTGATCTCTCTGATAATATTTTAGTTGTTTATTTGTTTAAAGTTTTTTTTCCCTGTGTAGTGCGTTCCCTGCTTGCTTTTTCCTTTTGTTTGTTTTGGATTTTATCTTTCATATTAGAGTCTGTCCTCAAATGGCTAGTGACCCTCTAGACATTTTCAAGTGATGCTGATGCTCCCTCTGTGGGATATATATATTTTTTCCTCAATGTCTTTACTGTAGGACTATCTGACTGGGTTCTTCTTTGCA... | pathogenic | 79,730 |
A mutation at chromosome position 5731431 on chromosome 4 in gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | AGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACTTCCGTCATGTGCCAGAGATTGGGAGGAAAGTGGGGGGATTAACTGTGTGATGTTTGGTCCTGTTTGAGGGTTTTATGGCAAGTCATTTTAGTAGGGATAGTTTTGAGGCTCAGGAACAGGACATGCCCATGGTAACCACGGTACGGAAGTTCCATGGTTCCTTGTATCCCCAGGGACACGAGGTAACAGCACAGTAGGACAGCTCCCTCTCTGCCTTTTTAACACTAATACAAACACTGATACCGACTCAGTTCTGAGCGCTAATCCTCATTCA... | AGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACTTCCGTCATGTGCCAGAGATTGGGAGGAAAGTGGGGGGATTAACTGTGTGATGTTTGGTCCTGTTTGAGGGTTTTATGGCAAGTCATTTTAGTAGGGATAGTTTTGAGGCTCAGGAACAGGACATGCCCATGGTAACCACGGTACGGAAGTTCCATGGTTCCTTGTATCCCCAGGGACACGAGGTAACAGCACAGTAGGACAGCTCCCTCTCTGCCTTTTTAACACTAATACAAACACTGATACCGACTCAGTTCTGAGCGCTAATCCTCATTCA... | pathogenic | 79,747 |
Variant at chromosome position 5733430, chromosome 4, gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GAGGCATCACATGGACTGAGTGTGACTCCTACTGCCACCCCAGCCTCTGGCCGATGGCTCCTCCAACCCGTCTCTGCATGAAAACTTAAAGCAGGCTGTTTTGCCACACCAGCCGGTAGAGGCCTCTCCTTCCAGCAGTCTGGGGAGCCTGAGCCAGGGTGAGAAGGACGACTGCAGCTCCTCATCCAGCGTCCACTCGGCCACCAGCGATGACAGGTTTCTCAGCCGCACCTTCCTCCGGGTGAACGCCTTCCCTGAAGTGCTGGCCTGCGAGAGGTAAGGAGAGCGGGCAATGGAGGATGAGGCTTCCAGTCCTCTTG... | GAGGCATCACATGGACTGAGTGTGACTCCTACTGCCACCCCAGCCTCTGGCCGATGGCTCCTCCAACCCGTCTCTGCATGAAAACTTAAAGCAGGCTGTTTTGCCACACCAGCCGGTAGAGGCCTCTCCTTCCAGCAGTCTGGGGAGCCTGAGCCAGGGTGAGAAGGACGACTGCAGCTCCTCATCCAGCGTCCACTCGGCCACCAGCGATGACAGGTTTCTCAGCCGCACCTTCCTCCGGGTGAACGCCTTCCCTGAAGTGCTGGCCTGCGAGAGGTAAGGAGAGCGGGCAATGGAGGATGAGGCTTCCAGTCCTCTTG... | pathogenic | 79,760 |
Assess the variant on chromosome 4, position 5741760, impacting EVC (EvC ciliary complex subunit 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | CCAAAAAAAATTTGCTGTTTCACCCTTTACTGAAAAAGTTTGCTAACCCCTGCATTTAAAAATGCCTTACCAGGCGGGATGCAGTGACTCATGCCTATAATCCCAGCACTTTGGGAGGTGGAGGCAGGCAGGTTGCATGAGTTCAGGAGTTCGAGACCAGCCTGGGCAACACAGAGAAACCCCATCTCAAAAAAAAAAAAAAAAGCCTTACCGGTTCACCAAAGAAAAAGAAAATGCCTTATTATATCTAAATGACCATATTATATCTAAATGACCTTTGACAAAGAGGCAAAAGCACTTCAATGGAGGAATGATAAGCT... | CCAAAAAAAATTTGCTGTTTCACCCTTTACTGAAAAAGTTTGCTAACCCCTGCATTTAAAAATGCCTTACCAGGCGGGATGCAGTGACTCATGCCTATAATCCCAGCACTTTGGGAGGTGGAGGCAGGCAGGTTGCATGAGTTCAGGAGTTCGAGACCAGCCTGGGCAACACAGAGAAACCCCATCTCAAAAAAAAAAAAAAAAGCCTTACCGGTTCACCAAAGAAAAAGAAAATGCCTTATTATATCTAAATGACCATATTATATCTAAATGACCTTTGACAAAGAGGCAAAAGCACTTCAATGGAGGAATGATAAGCT... | pathogenic | 79,764 |
Evaluate the clinical significance of the mutation at chromosome 4, position 5745186 in gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | CTGTGGTTGTGCTGGTGGGAGTGTCTTATGCTAATGAGCAATGAGGGCAGCAAGGGATCACTTTCATCACCATCCACTGGTTCCTGCCGGTTTCTTCACTTTATCCTGTCTGGACCAGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATT... | CTGTGGTTGTGCTGGTGGGAGTGTCTTATGCTAATGAGCAATGAGGGCAGCAAGGGATCACTTTCATCACCATCCACTGGTTCCTGCCGGTTTCTTCACTTTATCCTGTCTGGACCAGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATT... | benign | 79,772 |
Clinical classification of chromosome 4, position 5745188, gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? Disease(s) if pathogenic? | benign | GTGGTTGTGCTGGTGGGAGTGTCTTATGCTAATGAGCAATGAGGGCAGCAAGGGATCACTTTCATCACCATCCACTGGTTCCTGCCGGTTTCTTCACTTTATCCTGTCTGGACCAGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGT... | GTGGTTGTGCTGGTGGGAGTGTCTTATGCTAATGAGCAATGAGGGCAGCAAGGGATCACTTTCATCACCATCCACTGGTTCCTGCCGGTTTCTTCACTTTATCCTGTCTGGACCAGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGT... | benign | 79,773 |
Evaluate the clinical significance of the mutation at chromosome 4, position 5745190 in gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GGTTGTGCTGGTGGGAGTGTCTTATGCTAATGAGCAATGAGGGCAGCAAGGGATCACTTTCATCACCATCCACTGGTTCCTGCCGGTTTCTTCACTTTATCCTGTCTGGACCAGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTG... | GGTTGTGCTGGTGGGAGTGTCTTATGCTAATGAGCAATGAGGGCAGCAAGGGATCACTTTCATCACCATCCACTGGTTCCTGCCGGTTTCTTCACTTTATCCTGTCTGGACCAGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTG... | benign | 79,775 |
Is the chromosome 4, position 5745274 variant in EVC (EvC ciliary complex subunit 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GGTTTCTTCACTTTATCCTGTCTGGACCAGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTA... | GGTTTCTTCACTTTATCCTGTCTGGACCAGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTA... | pathogenic | 79,776 |
Regarding the variant at chromosome 4 and position 5745302, affecting gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome', 'Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly'] | AGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGT... | AGATCCCATTTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGT... | pathogenic | 79,777 |
Variant in gene EVC (EvC ciliary complex subunit 1), located at chromosome 4 position 5745311: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCAT... | TTTGATCAGCAGGGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCAT... | pathogenic | 79,778 |
Determine if the mutation at chromosome 4, position 5745323 in gene EVC (EvC ciliary complex subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCATCGTCCTTGTTCC... | GGTTGTGATCAGAAAACAAGTCCTGCCAGTCTCCTACCTCACCTTATCCTCACCATCATTGTCATCATTATTCTCGTTACTACTATCACCAGCCTCTTATTCATCATCCCCTGCCATCATTTTCATTATCATCATCATTGTTATTGTCATCATTTTCATTACTGCCATCGTCATCGCATCATTGTTGTGATAGTCTTCATCAGCACCACCATCATCACCATCTTCATCAGCACCACCATCACCACCTTTATCATCTTTCCTGCTACCTCTACCTTCACCTTCATTAGAGTCCTCATTGTCATCGTCATCGTCCTTGTTCC... | pathogenic | 79,780 |
Variant at chromosome position 5748241, chromosome 4, gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GTGGGAGTCACTGAAGCTTTGAAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGA... | GTGGGAGTCACTGAAGCTTTGAAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGA... | pathogenic | 79,800 |
A mutation at chromosome position 5748262 on chromosome 4 in gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | AAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTC... | AAGCAGGGGGTGGCTGGCTTCAGCTTCTGCTTTAGAAGGGCTGCCCAGGCACTGAGTGGAGGGTGGTGAAGAGCTACTGGGCTAATCCAGCAGGAACTTTATTAAGGCAACTGCAGTAGGATGGAGAGGTGAGGAAACGTGTGAGAGAAGCTGTGGTGGTCTACCATGGGGCGGCAGGTGGGGAGGAGGAGGGGGTCCAGGGTCAGTGCTGCTGAAATAAGCGCCCCAGAGCAAGATGCTCATGGGAGGGAGGGAGCCAATGCTCCTGTCCTCTGAATAGGTCCAATATTGAGAGGAGAGGCTTGGAGATGGAGGGTCTC... | pathogenic | 79,803 |
Evaluate this variant at chromosome 4, position 5753839, gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GACATAGAAGGACCTGGCTGGGCAGGGGAGTGAGAGGAGGCAGTGAGGGTGTTCCAGGAGGAAGGCCCCGCATGTGCAGAGGCTGGGCAGCCGGGACCAGGCAGGTGTGCAGGACAGGGCCCCACAGAACTTCCTGCACCATGCCTGGGGTGCTGGACTTGATCTCAGGGCAGCAACAGGAGGGTTTGGGGCCATGGCTGACAGAACCATCAGCATCTCTGAAAGGTCCGCTGTTCTGTGAGGTGGGGTTAGAGCATGGGGCAGAGATGGGAGGCTGGGGAGCAGGACTGGCCTGTGGCCTCGGCCCAGCACAGAGGTGC... | GACATAGAAGGACCTGGCTGGGCAGGGGAGTGAGAGGAGGCAGTGAGGGTGTTCCAGGAGGAAGGCCCCGCATGTGCAGAGGCTGGGCAGCCGGGACCAGGCAGGTGTGCAGGACAGGGCCCCACAGAACTTCCTGCACCATGCCTGGGGTGCTGGACTTGATCTCAGGGCAGCAACAGGAGGGTTTGGGGCCATGGCTGACAGAACCATCAGCATCTCTGAAAGGTCCGCTGTTCTGTGAGGTGGGGTTAGAGCATGGGGCAGAGATGGGAGGCTGGGGAGCAGGACTGGCCTGTGGCCTCGGCCCAGCACAGAGGTGC... | pathogenic | 79,828 |
Does the variant on chromosome 4 at location 5753855 affecting gene EVC (EvC ciliary complex subunit 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GCTGGGCAGGGGAGTGAGAGGAGGCAGTGAGGGTGTTCCAGGAGGAAGGCCCCGCATGTGCAGAGGCTGGGCAGCCGGGACCAGGCAGGTGTGCAGGACAGGGCCCCACAGAACTTCCTGCACCATGCCTGGGGTGCTGGACTTGATCTCAGGGCAGCAACAGGAGGGTTTGGGGCCATGGCTGACAGAACCATCAGCATCTCTGAAAGGTCCGCTGTTCTGTGAGGTGGGGTTAGAGCATGGGGCAGAGATGGGAGGCTGGGGAGCAGGACTGGCCTGTGGCCTCGGCCCAGCACAGAGGTGCCTAGGCCTGAGCTGGG... | GCTGGGCAGGGGAGTGAGAGGAGGCAGTGAGGGTGTTCCAGGAGGAAGGCCCCGCATGTGCAGAGGCTGGGCAGCCGGGACCAGGCAGGTGTGCAGGACAGGGCCCCACAGAACTTCCTGCACCATGCCTGGGGTGCTGGACTTGATCTCAGGGCAGCAACAGGAGGGTTTGGGGCCATGGCTGACAGAACCATCAGCATCTCTGAAAGGTCCGCTGTTCTGTGAGGTGGGGTTAGAGCATGGGGCAGAGATGGGAGGCTGGGGAGCAGGACTGGCCTGTGGCCTCGGCCCAGCACAGAGGTGCCTAGGCCTGAGCTGGG... | pathogenic | 79,829 |
Is the genetic mutation found on chromosome 4 at position 5753884, within the gene EVC (EvC ciliary complex subunit 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | AGGGTGTTCCAGGAGGAAGGCCCCGCATGTGCAGAGGCTGGGCAGCCGGGACCAGGCAGGTGTGCAGGACAGGGCCCCACAGAACTTCCTGCACCATGCCTGGGGTGCTGGACTTGATCTCAGGGCAGCAACAGGAGGGTTTGGGGCCATGGCTGACAGAACCATCAGCATCTCTGAAAGGTCCGCTGTTCTGTGAGGTGGGGTTAGAGCATGGGGCAGAGATGGGAGGCTGGGGAGCAGGACTGGCCTGTGGCCTCGGCCCAGCACAGAGGTGCCTAGGCCTGAGCTGGGCGTGGCTGGGAGTGGGGGGTGCAGAGTCT... | AGGGTGTTCCAGGAGGAAGGCCCCGCATGTGCAGAGGCTGGGCAGCCGGGACCAGGCAGGTGTGCAGGACAGGGCCCCACAGAACTTCCTGCACCATGCCTGGGGTGCTGGACTTGATCTCAGGGCAGCAACAGGAGGGTTTGGGGCCATGGCTGACAGAACCATCAGCATCTCTGAAAGGTCCGCTGTTCTGTGAGGTGGGGTTAGAGCATGGGGCAGAGATGGGAGGCTGGGGAGCAGGACTGGCCTGTGGCCTCGGCCCAGCACAGAGGTGCCTAGGCCTGAGCTGGGCGTGGCTGGGAGTGGGGGGTGCAGAGTCT... | pathogenic | 79,830 |
Mutation at chromosome 4, position 5783634, within EVC (EvC ciliary complex subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | CAGCACTTTGGGAGGTCAAGGCAGGCAGATCATTTGAGCTCAGGAGTTCGAGAGCAGCTTGAGCAACACAGCAAAACCTCATCTCCACAAAAAAATATAAAAAATTAGCCAGGCATAGTGGCATACACTCTATAGTCCCAGCTATTTGGGAGGCTGAGGTGAGAGGGTCACCTGAGTCCAGGAAGTCGAGGGTGTGATCACGCCCCTGAACTCCAGCCTGGGCGACAGAGGGAGATCCTGTCTCAAAACAAAACAAAAAGCATCTGCACAATGAAACATGCAATGAGATGCCATTTATGGGTGAATGAACACAAACACCA... | CAGCACTTTGGGAGGTCAAGGCAGGCAGATCATTTGAGCTCAGGAGTTCGAGAGCAGCTTGAGCAACACAGCAAAACCTCATCTCCACAAAAAAATATAAAAAATTAGCCAGGCATAGTGGCATACACTCTATAGTCCCAGCTATTTGGGAGGCTGAGGTGAGAGGGTCACCTGAGTCCAGGAAGTCGAGGGTGTGATCACGCCCCTGAACTCCAGCCTGGGCGACAGAGGGAGATCCTGTCTCAAAACAAAACAAAAAGCATCTGCACAATGAAACATGCAATGAGATGCCATTTATGGGTGAATGAACACAAACACCA... | pathogenic | 79,843 |
Clinical significance of chromosome 4, position 5783681, gene EVC (EvC ciliary complex subunit 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | TCGAGAGCAGCTTGAGCAACACAGCAAAACCTCATCTCCACAAAAAAATATAAAAAATTAGCCAGGCATAGTGGCATACACTCTATAGTCCCAGCTATTTGGGAGGCTGAGGTGAGAGGGTCACCTGAGTCCAGGAAGTCGAGGGTGTGATCACGCCCCTGAACTCCAGCCTGGGCGACAGAGGGAGATCCTGTCTCAAAACAAAACAAAAAGCATCTGCACAATGAAACATGCAATGAGATGCCATTTATGGGTGAATGAACACAAACACCAAAAGCCACCTTTATGAACATGATATGCAGGGAAAGTAGAGACCTGTA... | TCGAGAGCAGCTTGAGCAACACAGCAAAACCTCATCTCCACAAAAAAATATAAAAAATTAGCCAGGCATAGTGGCATACACTCTATAGTCCCAGCTATTTGGGAGGCTGAGGTGAGAGGGTCACCTGAGTCCAGGAAGTCGAGGGTGTGATCACGCCCCTGAACTCCAGCCTGGGCGACAGAGGGAGATCCTGTCTCAAAACAAAACAAAAAGCATCTGCACAATGAAACATGCAATGAGATGCCATTTATGGGTGAATGAACACAAACACCAAAAGCCACCTTTATGAACATGATATGCAGGGAAAGTAGAGACCTGTA... | pathogenic | 79,848 |
Is the genetic mutation found on chromosome 4 at position 5783736, within the gene EVC (EvC ciliary complex subunit 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | AATTAGCCAGGCATAGTGGCATACACTCTATAGTCCCAGCTATTTGGGAGGCTGAGGTGAGAGGGTCACCTGAGTCCAGGAAGTCGAGGGTGTGATCACGCCCCTGAACTCCAGCCTGGGCGACAGAGGGAGATCCTGTCTCAAAACAAAACAAAAAGCATCTGCACAATGAAACATGCAATGAGATGCCATTTATGGGTGAATGAACACAAACACCAAAAGCCACCTTTATGAACATGATATGCAGGGAAAGTAGAGACCTGTAAACTGGAGAGAGGGTCACTGCATTCATGGGGATGGCTGTCTGAGGCTGAGAGGGA... | AATTAGCCAGGCATAGTGGCATACACTCTATAGTCCCAGCTATTTGGGAGGCTGAGGTGAGAGGGTCACCTGAGTCCAGGAAGTCGAGGGTGTGATCACGCCCCTGAACTCCAGCCTGGGCGACAGAGGGAGATCCTGTCTCAAAACAAAACAAAAAGCATCTGCACAATGAAACATGCAATGAGATGCCATTTATGGGTGAATGAACACAAACACCAAAAGCCACCTTTATGAACATGATATGCAGGGAAAGTAGAGACCTGTAAACTGGAGAGAGGGTCACTGCATTCATGGGGATGGCTGTCTGAGGCTGAGAGGGA... | pathogenic | 79,850 |
For chromosome 4, position 5797012, gene EVC (EvC ciliary complex subunit 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Curry-Hall_syndrome', 'EVC-related_disorder', 'Ellis-van_Creveld_syndrome'] | CTATAAGTGAGAACATGCAGTATTTGGTTTTCTGTGTCTACATTAATTTCCTTACGATAATGGCTTCCAGCTGCATCCATGTTACTGCAAATAACATGATTTCATTATTTTTTATGACTGCATAGTATTCCATGGTGTATATATACCATTTCTTTATCCAATCCACCATTGATGAACACCTAGGTTGATTCAGTGTCTTTGCTATCATGAATAGCACTGCAATGAACATATAAGTACATGTGTCTTTTTGGTAGAATTTATTTTCAATTTATTTTCTTTCAGGTATCAATATAACTATTTTTTAGTTGCCCAGCCCTTTG... | CTATAAGTGAGAACATGCAGTATTTGGTTTTCTGTGTCTACATTAATTTCCTTACGATAATGGCTTCCAGCTGCATCCATGTTACTGCAAATAACATGATTTCATTATTTTTTATGACTGCATAGTATTCCATGGTGTATATATACCATTTCTTTATCCAATCCACCATTGATGAACACCTAGGTTGATTCAGTGTCTTTGCTATCATGAATAGCACTGCAATGAACATATAAGTACATGTGTCTTTTTGGTAGAATTTATTTTCAATTTATTTTCTTTCAGGTATCAATATAACTATTTTTTAGTTGCCCAGCCCTTTG... | pathogenic | 79,860 |
Is the chromosome 4, position 5802102 variant in EVC (EvC ciliary complex subunit 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GTAAAGTGAGGCCGAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTAGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGCAGACTCACTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTGACATAGCTAGACTCTGTCTAAAAAACAAACAAACAAACAAAAAACAGAA... | GTAAAGTGAGGCCGAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTAGTGGTGTGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGCAGACTCACTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTGACATAGCTAGACTCTGTCTAAAAAACAAACAAACAAACAAAAAACAGAA... | benign | 79,882 |
Variant on chromosome 4, at position 5808188, affecting EVC (EvC ciliary complex subunit 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCTTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCGCACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCCGGTCTCAAACTCCTGACCTCAGGTGATTCACCCGCCTTGGCCTCTCGGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTGTCATTCTACTCGCTGTGTCCATGTGCACACATTATTGAGCTCCCACTCATAACTGAAAATATGAGATATTTCTGTTTC... | TGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCTTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCGCACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCCGGTCTCAAACTCCTGACCTCAGGTGATTCACCCGCCTTGGCCTCTCGGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTGTCATTCTACTCGCTGTGTCCATGTGCACACATTATTGAGCTCCCACTCATAACTGAAAATATGAGATATTTCTGTTTC... | benign | 79,895 |
Is the genetic mutation found on chromosome 4 at position 5809610, within the gene EVC (EvC ciliary complex subunit 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Curry-Hall_syndrome', 'Ellis-van_Creveld_syndrome'] | GCTTAGGAACGGAGGGCATCCAGAGAGGGAGGTGGGCCCTGGGGCTCAGGTACCCGGCCTCTGCTCCAGCTCTGTCCCCCTCTCTGAGAGTAACAGGCTGCCTGCCGTATTCGGGATTTCCCAGAGGCTGCATCCCAAGAAGCTTCTCATTTTACGAGGGAGGGGCCGGGGCAGTTCTGAGATTTAAACTCAGGGATGGGTAGCCGGTAGGCCTCTGGTCCTTTCAGGAGAATGCTCCTCCCTGGGGAAAAGATTGTTTTCTCATGAGAAGATGCCACCTTCTGCTCCGCCACTTCACAGACGTGTGTCCTGAGGGAGGC... | GCTTAGGAACGGAGGGCATCCAGAGAGGGAGGTGGGCCCTGGGGCTCAGGTACCCGGCCTCTGCTCCAGCTCTGTCCCCCTCTCTGAGAGTAACAGGCTGCCTGCCGTATTCGGGATTTCCCAGAGGCTGCATCCCAAGAAGCTTCTCATTTTACGAGGGAGGGGCCGGGGCAGTTCTGAGATTTAAACTCAGGGATGGGTAGCCGGTAGGCCTCTGGTCCTTTCAGGAGAATGCTCCTCCCTGGGGAAAAGATTGTTTTCTCATGAGAAGATGCCACCTTCTGCTCCGCCACTTCACAGACGTGTGTCCTGAGGGAGGC... | pathogenic | 79,901 |
Does the variant on chromosome 4 at location 5809623 affecting gene EVC (EvC ciliary complex subunit 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GGGCATCCAGAGAGGGAGGTGGGCCCTGGGGCTCAGGTACCCGGCCTCTGCTCCAGCTCTGTCCCCCTCTCTGAGAGTAACAGGCTGCCTGCCGTATTCGGGATTTCCCAGAGGCTGCATCCCAAGAAGCTTCTCATTTTACGAGGGAGGGGCCGGGGCAGTTCTGAGATTTAAACTCAGGGATGGGTAGCCGGTAGGCCTCTGGTCCTTTCAGGAGAATGCTCCTCCCTGGGGAAAAGATTGTTTTCTCATGAGAAGATGCCACCTTCTGCTCCGCCACTTCACAGACGTGTGTCCTGAGGGAGGCCCCCACCTCTCTG... | GGGCATCCAGAGAGGGAGGTGGGCCCTGGGGCTCAGGTACCCGGCCTCTGCTCCAGCTCTGTCCCCCTCTCTGAGAGTAACAGGCTGCCTGCCGTATTCGGGATTTCCCAGAGGCTGCATCCCAAGAAGCTTCTCATTTTACGAGGGAGGGGCCGGGGCAGTTCTGAGATTTAAACTCAGGGATGGGTAGCCGGTAGGCCTCTGGTCCTTTCAGGAGAATGCTCCTCCCTGGGGAAAAGATTGTTTTCTCATGAGAAGATGCCACCTTCTGCTCCGCCACTTCACAGACGTGTGTCCTGAGGGAGGCCCCCACCTCTCTG... | benign | 79,903 |
The mutation impacting EVC (EvC ciliary complex subunit 1) on chromosome 4 at position 5810939: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGAGTGTTGGCCCTTTCAGAGTGTTCTCCACTGGCGATGGCAGTCGCAGAGTGACAGTGGTAAGAATACAGCAGTGGTGGCCGATAGGTACTTATTGAGGGTCTATGATAGATAGTCATGAGCTGAGAGCTTTGCACACACTTTCCAACAAAAGAGGTTACTGCTACTGTCCCCATTACAGATGGACAAACTGAGGCATGCACAGGTTACGTTGCTATCCAGGGTCACACAGTTAATGCATCATGGAATTCTGGTGTGTTTGTTTACACCACAGTGTTGGAAGTTTAGAGCCCAGCCTGTGGAGTCGGGCAGAAGTGAGT... | AGAGTGTTGGCCCTTTCAGAGTGTTCTCCACTGGCGATGGCAGTCGCAGAGTGACAGTGGTAAGAATACAGCAGTGGTGGCCGATAGGTACTTATTGAGGGTCTATGATAGATAGTCATGAGCTGAGAGCTTTGCACACACTTTCCAACAAAAGAGGTTACTGCTACTGTCCCCATTACAGATGGACAAACTGAGGCATGCACAGGTTACGTTGCTATCCAGGGTCACACAGTTAATGCATCATGGAATTCTGGTGTGTTTGTTTACACCACAGTGTTGGAAGTTTAGAGCCCAGCCTGTGGAGTCGGGCAGAAGTGAGT... | benign | 79,914 |
Variant at chromosome 4, position 6277462, gene WFS1 (wolframin ER transmembrane glycoprotein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | CTTAGGTCTGCACGTGCAGTTAAATGGCTGCTTTTGTGGAAGGTGCCAGTTCCCGGGAGCTGGGAACTTGGAAACAGGATGGAGCAGGCTCCCAAGCTTGACCATGCATGGTTTGCACCTGGGGGATGCACCCGGGGGTGCTTGACCATGCATGGTTTGCACCTGGGGGATGCACGGGGGTGGGGTGGGGGGGGGGGGTGTGCTTGACCATGCATGGTTTGCACCTGGGGGATGTTTTACACTAAGGGCTCAGTCCCTCTGAGGGAGGAACGTGTGGATTGAAATCTGCAGAGTTCTTGAGCGACACCAGTCTGATCTTT... | CTTAGGTCTGCACGTGCAGTTAAATGGCTGCTTTTGTGGAAGGTGCCAGTTCCCGGGAGCTGGGAACTTGGAAACAGGATGGAGCAGGCTCCCAAGCTTGACCATGCATGGTTTGCACCTGGGGGATGCACCCGGGGGTGCTTGACCATGCATGGTTTGCACCTGGGGGATGCACGGGGGTGGGGTGGGGGGGGGGGGTGTGCTTGACCATGCATGGTTTGCACCTGGGGGATGTTTTACACTAAGGGCTCAGTCCCTCTGAGGGAGGAACGTGTGGATTGAAATCTGCAGAGTTCTTGAGCGACACCAGTCTGATCTTT... | pathogenic | 79,954 |
Variant at chromosome position 6277575, chromosome 4, gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Wolfram_syndrome_1'] | TGCACCTGGGGGATGCACCCGGGGGTGCTTGACCATGCATGGTTTGCACCTGGGGGATGCACGGGGGTGGGGTGGGGGGGGGGGGTGTGCTTGACCATGCATGGTTTGCACCTGGGGGATGTTTTACACTAAGGGCTCAGTCCCTCTGAGGGAGGAACGTGTGGATTGAAATCTGCAGAGTTCTTGAGCGACACCAGTCTGATCTTTAGGACTCATTTGCAGCGGGAATGGAGCAGAAATTGTTGTGTGTGGAGCCTGGGGCCACTCCTGACTCTTCCAGTCACAGCTGCCCCCAAAAGTGACCTCTGGGCACCTACTCA... | TGCACCTGGGGGATGCACCCGGGGGTGCTTGACCATGCATGGTTTGCACCTGGGGGATGCACGGGGGTGGGGTGGGGGGGGGGGGTGTGCTTGACCATGCATGGTTTGCACCTGGGGGATGTTTTACACTAAGGGCTCAGTCCCTCTGAGGGAGGAACGTGTGGATTGAAATCTGCAGAGTTCTTGAGCGACACCAGTCTGATCTTTAGGACTCATTTGCAGCGGGAATGGAGCAGAAATTGTTGTGTGTGGAGCCTGGGGCCACTCCTGACTCTTCCAGTCACAGCTGCCCCCAAAAGTGACCTCTGGGCACCTACTCA... | pathogenic | 79,963 |
The genetic variant at chromosome 4, position 6289078, affecting gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Retinal_dystrophy', 'Type_2_diabetes_mellitus', 'WFS1-Related_Spectrum_Disorders', 'Wolfram-like_syndrome', 'Wolfram_syndrome', 'Wolfram_syndrome_1'] | CCATCCTGACAAGTGACAAAGTCTGGCTTTGTGACATGTGTGTTTGTTTCTTCTGTGTTAAAGGGCCTACAAAGGGAGACATGGAAATCCCCTTTGAAGAAGTCCTGGAGAGGGCCAAGGCCGGGGACCCCAAGGCACAGACTGAGGTGAGGACTGCGGTGCCGGCAGGGACTTCGGGACGCGGCCCCCGGCACAACAGGCCTGGCCACGAGCTCCACAGCCCACAGAGAAGTGTCGGTGCCTGAGATCGGGGTCAGGAGCCAGCGTGGTGCACCCTACCCCACTTGAGCCCCATGTTGGTAGGGTGCCCATGTTCACTG... | CCATCCTGACAAGTGACAAAGTCTGGCTTTGTGACATGTGTGTTTGTTTCTTCTGTGTTAAAGGGCCTACAAAGGGAGACATGGAAATCCCCTTTGAAGAAGTCCTGGAGAGGGCCAAGGCCGGGGACCCCAAGGCACAGACTGAGGTGAGGACTGCGGTGCCGGCAGGGACTTCGGGACGCGGCCCCCGGCACAACAGGCCTGGCCACGAGCTCCACAGCCCACAGAGAAGTGTCGGTGCCTGAGATCGGGGTCAGGAGCCAGCGTGGTGCACCCTACCCCACTTGAGCCCCATGTTGGTAGGGTGCCCATGTTCACTG... | pathogenic | 79,992 |
A mutation at chromosome position 6289108 on chromosome 4 in gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Optic_atrophy', 'Wolfram_syndrome_1'] | GTGACATGTGTGTTTGTTTCTTCTGTGTTAAAGGGCCTACAAAGGGAGACATGGAAATCCCCTTTGAAGAAGTCCTGGAGAGGGCCAAGGCCGGGGACCCCAAGGCACAGACTGAGGTGAGGACTGCGGTGCCGGCAGGGACTTCGGGACGCGGCCCCCGGCACAACAGGCCTGGCCACGAGCTCCACAGCCCACAGAGAAGTGTCGGTGCCTGAGATCGGGGTCAGGAGCCAGCGTGGTGCACCCTACCCCACTTGAGCCCCATGTTGGTAGGGTGCCCATGTTCACTGTGCCAGTTTTCCTCCTGGCACTCCTCTGGG... | GTGACATGTGTGTTTGTTTCTTCTGTGTTAAAGGGCCTACAAAGGGAGACATGGAAATCCCCTTTGAAGAAGTCCTGGAGAGGGCCAAGGCCGGGGACCCCAAGGCACAGACTGAGGTGAGGACTGCGGTGCCGGCAGGGACTTCGGGACGCGGCCCCCGGCACAACAGGCCTGGCCACGAGCTCCACAGCCCACAGAGAAGTGTCGGTGCCTGAGATCGGGGTCAGGAGCCAGCGTGGTGCACCCTACCCCACTTGAGCCCCATGTTGGTAGGGTGCCCATGTTCACTGTGCCAGTTTTCCTCCTGGCACTCCTCTGGG... | pathogenic | 79,994 |
The chromosome 4, position 6291031 genetic variant in gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GCAGGTGGGGAAGCACTACCTGCAGTTGGCCGGCGACACGGATGAAGAACTCAACAGCTGCACCGCTGTGGACTGGCTGGTCCTCGCCGCGAAGCAGGGCCGTCGCGAGGCTGTGAAGCTGCTTCGCCGGTGCTTGGCGGACAGAAGAGGTGGGTCTGTGTGAGGCTTAGAACAGCCTCTGGAGGGTTGAGCAGCTTGTAATGCTGCTTGCTAACTGAACAACTAAAATCTTACCAAACCTAACGCTGGTGATGCTGTTGGGAAATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTT... | GCAGGTGGGGAAGCACTACCTGCAGTTGGCCGGCGACACGGATGAAGAACTCAACAGCTGCACCGCTGTGGACTGGCTGGTCCTCGCCGCGAAGCAGGGCCGTCGCGAGGCTGTGAAGCTGCTTCGCCGGTGCTTGGCGGACAGAAGAGGTGGGTCTGTGTGAGGCTTAGAACAGCCTCTGGAGGGTTGAGCAGCTTGTAATGCTGCTTGCTAACTGAACAACTAAAATCTTACCAAACCTAACGCTGGTGATGCTGTTGGGAAATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTT... | benign | 79,999 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 6300702, gene WFS1 (wolframin ER transmembrane glycoprotein). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'WFS1-related_disorder', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | ACACACTCATAACACTTCCGTTTCCTCCATGAGCCTGCCCCTCTCCTCTCATCTGTGGAAGACTCAGTCTTCTGGTTGTTTCCAGGTGTCCTGGTCCTCCAGAGCTGATAGCCAGGCTGTTGGCAGGTGAGGGCCACATTCTGGTGTTGTCACCTAGTTGCCATTCACCTGGGATCCCTCCTTGGCCTTCTGGTGGGCCTGGTGGAGAGAACCTGCCCCAGGGGATTTGTGGGGTCTGGTGCTTCCCCGAGGCCCGGAGCTGATGGGGGGCTCCAGCCTGGATGTGTCATGTAGCCCCTCAGTGGGCCCTGGACATGCAG... | ACACACTCATAACACTTCCGTTTCCTCCATGAGCCTGCCCCTCTCCTCTCATCTGTGGAAGACTCAGTCTTCTGGTTGTTTCCAGGTGTCCTGGTCCTCCAGAGCTGATAGCCAGGCTGTTGGCAGGTGAGGGCCACATTCTGGTGTTGTCACCTAGTTGCCATTCACCTGGGATCCCTCCTTGGCCTTCTGGTGGGCCTGGTGGAGAGAACCTGCCCCAGGGGATTTGTGGGGTCTGGTGCTTCCCCGAGGCCCGGAGCTGATGGGGGGCTCCAGCCTGGATGTGTCATGTAGCCCCTCAGTGGGCCCTGGACATGCAG... | pathogenic | 80,072 |
Clinical classification of chromosome 4, position 6300811, gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Wolfram_syndrome_1'] | AGCCAGGCTGTTGGCAGGTGAGGGCCACATTCTGGTGTTGTCACCTAGTTGCCATTCACCTGGGATCCCTCCTTGGCCTTCTGGTGGGCCTGGTGGAGAGAACCTGCCCCAGGGGATTTGTGGGGTCTGGTGCTTCCCCGAGGCCCGGAGCTGATGGGGGGCTCCAGCCTGGATGTGTCATGTAGCCCCTCAGTGGGCCCTGGACATGCAGCCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCAC... | AGCCAGGCTGTTGGCAGGTGAGGGCCACATTCTGGTGTTGTCACCTAGTTGCCATTCACCTGGGATCCCTCCTTGGCCTTCTGGTGGGCCTGGTGGAGAGAACCTGCCCCAGGGGATTTGTGGGGTCTGGTGCTTCCCCGAGGCCCGGAGCTGATGGGGGGCTCCAGCCTGGATGTGTCATGTAGCCCCTCAGTGGGCCCTGGACATGCAGCCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCAC... | pathogenic | 80,083 |
Evaluate the clinical significance of the mutation at chromosome 4, position 6301022 in gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Wolfram_syndrome_1'] | CCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTG... | CCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTG... | pathogenic | 80,101 |
A mutation at chromosome position 6301022 on chromosome 4 in gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Optic_atrophy', 'Type_2_diabetes_mellitus', 'WFS1-Related_Spectrum_Disorders', 'WFS1-related_disorder', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | CCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTG... | CCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTG... | pathogenic | 80,102 |
Variant at chromosome 4, position 6301025, gene WFS1 (wolframin ER transmembrane glycoprotein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | GGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCT... | GGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCT... | pathogenic | 80,104 |
Variant in gene WFS1 (wolframin ER transmembrane glycoprotein), located at chromosome 4 position 6301029: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Wolfram_syndrome'] | TCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGG... | TCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGG... | pathogenic | 80,106 |
The mutation in gene WFS1 (wolframin ER transmembrane glycoprotein) at chromosome 4, position 6301035—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Rare_genetic_deafness', 'Type_2_diabetes_mellitus', 'WFS1-Related_Spectrum_Disorders', 'WFS1-related_disorder', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | CCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGG... | CCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGG... | pathogenic | 80,108 |
Does the variant impacting WFS1 (wolframin ER transmembrane glycoprotein) on chromosome 4, position 6301156, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Diabetes_mellitus', 'Wolfram_syndrome_1'] | ATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGT... | ATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGT... | pathogenic | 80,121 |
Gene mutation in WFS1 (wolframin ER transmembrane glycoprotein) at chromosome 4, position 6301235—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Rare_genetic_deafness', 'Wolfram_syndrome_1'] | TCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTG... | TCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTG... | pathogenic | 80,128 |
Considering the variant on chromosome 4, location 6301309, involving gene WFS1 (wolframin ER transmembrane glycoprotein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | CAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGA... | CAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGA... | pathogenic | 80,140 |
Variant at chromosome 4, position 6301316, gene WFS1 (wolframin ER transmembrane glycoprotein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | CCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTG... | CCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTG... | pathogenic | 80,141 |
Does the chromosome 4 mutation at position 6301335 within gene WFS1 (wolframin ER transmembrane glycoprotein) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | CCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAAT... | CCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAAT... | pathogenic | 80,143 |
Is the genetic change at chromosome 4, position 6301342, within gene WFS1 (wolframin ER transmembrane glycoprotein) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | GCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTA... | GCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTA... | pathogenic | 80,144 |
Variant in WFS1 (wolframin ER transmembrane glycoprotein), chromosome 4, position 6301398—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | AGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTG... | AGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTG... | pathogenic | 80,148 |
Does the variant on chromosome 4 at location 6301483 affecting gene WFS1 (wolframin ER transmembrane glycoprotein) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'WFS1-related_disorder', 'Wolfram-like_syndrome', 'Wolfram_syndrome', 'Wolfram_syndrome_1'] | CACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGT... | CACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGT... | pathogenic | 80,164 |
Clinical classification of chromosome 4, position 6301493, gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | GGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGT... | GGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGT... | pathogenic | 80,166 |
Variant at chromosome position 6301742, chromosome 4, gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cataract_41', 'Wolfram_syndrome_1'] | TGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCT... | TGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCT... | pathogenic | 80,194 |
Clinical impact (benign or pathogenic) of the variant at chromosome 4, location 6302001, gene WFS1 (wolframin ER transmembrane glycoprotein): what disease(s) if pathogenic? | pathogenic; ['Wolfram_syndrome_1'] | GGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGAC... | GGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGAC... | pathogenic | 80,223 |
The mutation impacting WFS1 (wolframin ER transmembrane glycoprotein) on chromosome 4 at position 6302018: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Wolfram_syndrome_1'] | TGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCC... | TGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCC... | pathogenic | 80,224 |
For chromosome 4, position 6302109, gene WFS1 (wolframin ER transmembrane glycoprotein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | AGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCAC... | AGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCAC... | pathogenic | 80,231 |
Is the genetic variant on chromosome 4, position 6302180, gene WFS1 (wolframin ER transmembrane glycoprotein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAA... | CTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAA... | benign | 80,242 |
Variant on chromosome 4, at position 6302247, affecting WFS1 (wolframin ER transmembrane glycoprotein): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | TCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCAC... | TCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCAC... | pathogenic | 80,252 |
The mutation impacting WFS1 (wolframin ER transmembrane glycoprotein) on chromosome 4 at position 6302330: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Wolfram_syndrome_1'] | AGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGAT... | AGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGAT... | pathogenic | 80,259 |
A genetic variant on chromosome 4, position 6302435, affects the gene WFS1 (wolframin ER transmembrane glycoprotein). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | ATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGAT... | ATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGAT... | pathogenic | 80,273 |
Gene WFS1 (wolframin ER transmembrane glycoprotein) variant at chromosome 4, position 6302436—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | TCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATT... | TCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATT... | pathogenic | 80,274 |
Is chromosome 4, position 6302440, gene WFS1 (wolframin ER transmembrane glycoprotein) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_6', 'Cataract_41', 'Type_2_diabetes_mellitus', 'Wolfram-like_syndrome', 'Wolfram_syndrome_1'] | GTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACA... | GTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACA... | pathogenic | 80,275 |
Regarding the variant found on chromosome 4 at position 10081350 in gene WDR1 (WD repeat domain 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ATGGGAATCAACGTTCAGGGTAAGAAAGGTACTAACAACAGTAAACAAAAACAGCGACAGCCCCTAGGCACGTGCCAGCGCTCTGCTGTGAGTGTTCCAGCCCCACAAGGCAGGGATCGGGTTCCCCGTTTCAGAGAAGAAAATGGGGTACGGTGCTTATGCTGCACGCCCAAGGCTCCAGTTCCCACAGGCTGAGCCGGGACTCGCCCAGAATCCAAGCCTCGGCACCCGCACTGGGCCTTTGCCTCTGGTACATGCAGCAGAGGCTCTGCAGCGGGGGCCTTCCTTCCATCTCCCTTCCTTGTCAATTCTTCCGGTTC... | ATGGGAATCAACGTTCAGGGTAAGAAAGGTACTAACAACAGTAAACAAAAACAGCGACAGCCCCTAGGCACGTGCCAGCGCTCTGCTGTGAGTGTTCCAGCCCCACAAGGCAGGGATCGGGTTCCCCGTTTCAGAGAAGAAAATGGGGTACGGTGCTTATGCTGCACGCCCAAGGCTCCAGTTCCCACAGGCTGAGCCGGGACTCGCCCAGAATCCAAGCCTCGGCACCCGCACTGGGCCTTTGCCTCTGGTACATGCAGCAGAGGCTCTGCAGCGGGGGCCTTCCTTCCATCTCCCTTCCTTGTCAATTCTTCCGGTTC... | benign | 80,426 |
A genetic alteration at chromosome 4, position 15480777, in gene CC2D2A (coiled-coil and C2 domain containing 2A)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | ATTGAAAATGATGAGGATGCAGACATGGGAAGACAGAATAAGAACTCAAAGGTTCGAAGACAGCCAAGAAAGAAACAGGTAAGAAGTGACAAGAAACTGTGTCTGCGTATTGTCATTGATCAACAACCCGCCTGCATCCCCAGGGCCATACAGAATCCACAAGGGCAGCCTTCCTTCTTTTGGTACCAACTTTTGGCCTGCTCTGGGGGGCTGTGAGGCGGGGATGCAGATGGGTGGTCCAGGGTGCAGGAGCCTGATTCAGAGACTTATAGATGAGCCTCACAATAAGGCGGGGGTCCATACTTAGAGCATTTTTACTC... | ATTGAAAATGATGAGGATGCAGACATGGGAAGACAGAATAAGAACTCAAAGGTTCGAAGACAGCCAAGAAAGAAACAGGTAAGAAGTGACAAGAAACTGTGTCTGCGTATTGTCATTGATCAACAACCCGCCTGCATCCCCAGGGCCATACAGAATCCACAAGGGCAGCCTTCCTTCTTTTGGTACCAACTTTTGGCCTGCTCTGGGGGGCTGTGAGGCGGGGATGCAGATGGGTGGTCCAGGGTGCAGGAGCCTGATTCAGAGACTTATAGATGAGCCTCACAATAAGGCGGGGGTCCATACTTAGAGCATTTTTACTC... | pathogenic | 80,485 |
Determine whether the variant at chromosome 4, position 15502471, in gene CC2D2A (coiled-coil and C2 domain containing 2A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6'] | TGAAAAATGACTTGATTTTAAGTGAGTTTTAAAAGAATGCCAAAGGCCATTTTATTAAGCTAATGGAGATTCTCTTAAAGAACTTTGAACCTCAACACATGCATGCCAGACTCTAATCATTACCATAAATATTTCATGCCTCCATACAGGCATTAAGTGATAGTTGGGGGCATGATATAAGTAGTATTTTATAGCTTTCTATCACACATATGGAAGAAGGCACAACCCAAGAAACGGAGTGGCTGTGCTGCAGAAATGGGCTTTGAGGCTGGTGACTGTTGTCTTTGCTTGCATAAAGCAGGCTCAGGAGGAACCTGCAG... | TGAAAAATGACTTGATTTTAAGTGAGTTTTAAAAGAATGCCAAAGGCCATTTTATTAAGCTAATGGAGATTCTCTTAAAGAACTTTGAACCTCAACACATGCATGCCAGACTCTAATCATTACCATAAATATTTCATGCCTCCATACAGGCATTAAGTGATAGTTGGGGGCATGATATAAGTAGTATTTTATAGCTTTCTATCACACATATGGAAGAAGGCACAACCCAAGAAACGGAGTGGCTGTGCTGCAGAAATGGGCTTTGAGGCTGGTGACTGTTGTCTTTGCTTGCATAAAGCAGGCTCAGGAGGAACCTGCAG... | pathogenic | 80,493 |
Is the chromosome 4, position 15510218 variant in CC2D2A (coiled-coil and C2 domain containing 2A) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['CC2D2A-related_disorder', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome'] | CTGAGAAGCAGTCTACGTGACTCCTCAGAGGATCCCTGTGGGTTAAACTCTCTTGCCCACAGTGGTAGCCTTGTCAATCAAGTTCTCCTGCACTCACTTTCCACCTGCTTTATTCTTCCCAGTCCCCAGTTCCTGTTCTTTGGTGTCACTTCTCAGAGTCAACTACAGGCACAGAAAAACCCTTGCCACAGGCTCTGGTTTCCCATGGGCTAAACTAAAATGTTTAGTCGTATCATATGAATACAAACTATAGACCAAAAAAAAGACATGTAAGAAAAAGCTAGTAATATGATAATAATGGCTACCATTAATGCACCTGA... | CTGAGAAGCAGTCTACGTGACTCCTCAGAGGATCCCTGTGGGTTAAACTCTCTTGCCCACAGTGGTAGCCTTGTCAATCAAGTTCTCCTGCACTCACTTTCCACCTGCTTTATTCTTCCCAGTCCCCAGTTCCTGTTCTTTGGTGTCACTTCTCAGAGTCAACTACAGGCACAGAAAAACCCTTGCCACAGGCTCTGGTTTCCCATGGGCTAAACTAAAATGTTTAGTCGTATCATATGAATACAAACTATAGACCAAAAAAAAGACATGTAAGAAAAAGCTAGTAATATGATAATAATGGCTACCATTAATGCACCTGA... | pathogenic | 80,501 |
A mutation at chromosome position 15511353 on chromosome 4 in gene CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome'] | GCTCTATCTCCCAGGCTGGAGTGCAGTGCTGCAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTTTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAAACTTTGTATTTTTAGTAAAGGTGGGGTTTCACTATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAGTTCAAGCATGAGCCACTGCATCTGGACAACAGTTTTCATTTTAAAGCTTATTGAGTATACAATTTTACATTTGTTCAG... | GCTCTATCTCCCAGGCTGGAGTGCAGTGCTGCAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTTTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAAACTTTGTATTTTTAGTAAAGGTGGGGTTTCACTATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAGTTCAAGCATGAGCCACTGCATCTGGACAACAGTTTTCATTTTAAAGCTTATTGAGTATACAATTTTACATTTGTTCAG... | pathogenic | 80,504 |
Is the genetic change at chromosome 4, position 15511381, within gene CC2D2A (coiled-coil and C2 domain containing 2A) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTGCAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTTTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAAACTTTGTATTTTTAGTAAAGGTGGGGTTTCACTATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAGTTCAAGCATGAGCCACTGCATCTGGACAACAGTTTTCATTTTAAAGCTTATTGAGTATACAATTTTACATTTGTTCAGTCTTGAGAGAGACGAGTTGAGTAAGAAA... | CTGCAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTTTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAAACTTTGTATTTTTAGTAAAGGTGGGGTTTCACTATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAGTTCAAGCATGAGCCACTGCATCTGGACAACAGTTTTCATTTTAAAGCTTATTGAGTATACAATTTTACATTTGTTCAGTCTTGAGAGAGACGAGTTGAGTAAGAAA... | benign | 80,505 |
Mutation found at chromosome 4 position 15511418, gene CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | TTCAAGGGATTTTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAAACTTTGTATTTTTAGTAAAGGTGGGGTTTCACTATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAGTTCAAGCATGAGCCACTGCATCTGGACAACAGTTTTCATTTTAAAGCTTATTGAGTATACAATTTTACATTTGTTCAGTCTTGAGAGAGACGAGTTGAGTAAGAAAATATCAACATCAACCTTCAAATATACAGTCATGCATC... | TTCAAGGGATTTTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAAACTTTGTATTTTTAGTAAAGGTGGGGTTTCACTATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAGTTCAAGCATGAGCCACTGCATCTGGACAACAGTTTTCATTTTAAAGCTTATTGAGTATACAATTTTACATTTGTTCAGTCTTGAGAGAGACGAGTTGAGTAAGAAAATATCAACATCAACCTTCAAATATACAGTCATGCATC... | pathogenic | 80,507 |
Variant in gene CC2D2A (coiled-coil and C2 domain containing 2A), located at chromosome 4 position 15514821: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['COACH_syndrome_2', 'Joubert_syndrome_9', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | TGAAACCCTGTCTCTACTAAAATTACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCAGCTACTCAGGAGGCTGAGGCAGGAGTATTACTTGAACACGAGAGGCAGACGTTGCAGTGAGCCGAGATTGCGCTATTGCACTCCAGCCTAGATGACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGGTTAAAATGGTGGACTTCATGTTATATATATTTTACCACATTAAAAATAAGGAAAACACACTAGGATATTCTAGTATTCACATAATTGGCATACTTCTGTGCTTCACTTACAATCTCCTCCCTTGA... | TGAAACCCTGTCTCTACTAAAATTACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCAGCTACTCAGGAGGCTGAGGCAGGAGTATTACTTGAACACGAGAGGCAGACGTTGCAGTGAGCCGAGATTGCGCTATTGCACTCCAGCCTAGATGACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGGTTAAAATGGTGGACTTCATGTTATATATATTTTACCACATTAAAAATAAGGAAAACACACTAGGATATTCTAGTATTCACATAATTGGCATACTTCTGTGCTTCACTTACAATCTCCTCCCTTGA... | pathogenic | 80,513 |
Classify the chromosome 4 variant at position 15514827 affecting gene CC2D2A (coiled-coil and C2 domain containing 2A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | CCTGTCTCTACTAAAATTACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCAGCTACTCAGGAGGCTGAGGCAGGAGTATTACTTGAACACGAGAGGCAGACGTTGCAGTGAGCCGAGATTGCGCTATTGCACTCCAGCCTAGATGACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGGTTAAAATGGTGGACTTCATGTTATATATATTTTACCACATTAAAAATAAGGAAAACACACTAGGATATTCTAGTATTCACATAATTGGCATACTTCTGTGCTTCACTTACAATCTCCTCCCTTGAAAAATG... | CCTGTCTCTACTAAAATTACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCAGCTACTCAGGAGGCTGAGGCAGGAGTATTACTTGAACACGAGAGGCAGACGTTGCAGTGAGCCGAGATTGCGCTATTGCACTCCAGCCTAGATGACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAGGTTAAAATGGTGGACTTCATGTTATATATATTTTACCACATTAAAAATAAGGAAAACACACTAGGATATTCTAGTATTCACATAATTGGCATACTTCTGTGCTTCACTTACAATCTCCTCCCTTGAAAAATG... | pathogenic | 80,514 |
Clinical significance of chromosome 4, position 15527594, gene CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['COACH_syndrome_2', 'Joubert_syndrome_9', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | GTTGCAGTCTGAAGTGTAGGGATATTAATGACCAGATCTGATCTCTGAAAGGCCACCCAGGGCTTTCATAAGATACAAAAGACCAGTGGAAGCTGATCCATGTCCCAGTGGTTTTTCCTTCTATAAATCCAAGTGAAGATTCTTGGAAGAAATTGTTGTTACTGTGTTCATAATAGTTCTCGATATATAAGAAAGGGAACAGATACAACAAAGAGAAAAGGAACTAGAGGTCTTTCTCTCTAATAGTATGGGAGTTGTGGTCTTTTGGGCAGTCTAGCCCAGTGGCTGCAAGGAGTCCTGGAAGCTTTTTATACTTGGTT... | GTTGCAGTCTGAAGTGTAGGGATATTAATGACCAGATCTGATCTCTGAAAGGCCACCCAGGGCTTTCATAAGATACAAAAGACCAGTGGAAGCTGATCCATGTCCCAGTGGTTTTTCCTTCTATAAATCCAAGTGAAGATTCTTGGAAGAAATTGTTGTTACTGTGTTCATAATAGTTCTCGATATATAAGAAAGGGAACAGATACAACAAAGAGAAAAGGAACTAGAGGTCTTTCTCTCTAATAGTATGGGAGTTGTGGTCTTTTGGGCAGTCTAGCCCAGTGGCTGCAAGGAGTCCTGGAAGCTTTTTATACTTGGTT... | pathogenic | 80,521 |
Considering the genetic mutation at chromosome 4, position 15527634, impacting CC2D2A (coiled-coil and C2 domain containing 2A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | ATCTCTGAAAGGCCACCCAGGGCTTTCATAAGATACAAAAGACCAGTGGAAGCTGATCCATGTCCCAGTGGTTTTTCCTTCTATAAATCCAAGTGAAGATTCTTGGAAGAAATTGTTGTTACTGTGTTCATAATAGTTCTCGATATATAAGAAAGGGAACAGATACAACAAAGAGAAAAGGAACTAGAGGTCTTTCTCTCTAATAGTATGGGAGTTGTGGTCTTTTGGGCAGTCTAGCCCAGTGGCTGCAAGGAGTCCTGGAAGCTTTTTATACTTGGTTGGGCTAAGCAAAAAGCAGAGACCACCAGCAATTATTGGAA... | ATCTCTGAAAGGCCACCCAGGGCTTTCATAAGATACAAAAGACCAGTGGAAGCTGATCCATGTCCCAGTGGTTTTTCCTTCTATAAATCCAAGTGAAGATTCTTGGAAGAAATTGTTGTTACTGTGTTCATAATAGTTCTCGATATATAAGAAAGGGAACAGATACAACAAAGAGAAAAGGAACTAGAGGTCTTTCTCTCTAATAGTATGGGAGTTGTGGTCTTTTGGGCAGTCTAGCCCAGTGGCTGCAAGGAGTCCTGGAAGCTTTTTATACTTGGTTGGGCTAAGCAAAAAGCAGAGACCACCAGCAATTATTGGAA... | pathogenic | 80,522 |
The genetic variant at chromosome 4, position 15536975, affecting gene CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['CC2D2A-related_disorder', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6'] | CATTGCTTTGAAAACAGCCATATTTCAGCCAAAGATAGCTGCAAATTGTAATTTTTCTTTAGCTGTAATTATAAAATTGAAAAAAAAAAGGTTAGTTTTCAGGACAAGTGTAAGACTGTGTGATCTTTGAGAGCAGGGACCCTATTGCCATTGTATATTTGGTCCCTACAAGAGCACCTGCCACTTAGTATCTGCTCAGTTAATATTGGTTAACAAATTCAAATATGCTACCCCACAAAAATAATGGCTGTCTCCCAGAAATTCCAGTGTTTGTGCTTTCGAATTCCATCTCCTAGGCTGAGCCTCCCACAGAAGCAGTA... | CATTGCTTTGAAAACAGCCATATTTCAGCCAAAGATAGCTGCAAATTGTAATTTTTCTTTAGCTGTAATTATAAAATTGAAAAAAAAAAGGTTAGTTTTCAGGACAAGTGTAAGACTGTGTGATCTTTGAGAGCAGGGACCCTATTGCCATTGTATATTTGGTCCCTACAAGAGCACCTGCCACTTAGTATCTGCTCAGTTAATATTGGTTAACAAATTCAAATATGCTACCCCACAAAAATAATGGCTGTCTCCCAGAAATTCCAGTGTTTGTGCTTTCGAATTCCATCTCCTAGGCTGAGCCTCCCACAGAAGCAGTA... | pathogenic | 80,535 |
Clinical classification of chromosome 4, position 15550862, gene CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | ATAAAAATATAGAGAACATTTTTTAAAAGAGGAAGGGTCACTTATAAATTAATAGAGGCTTGAGGAACATATCAGTCAATTACAACATATGGAATATATTTTGATCCTGATTCAAACAAAATGTTACAGAATTTTTTGAGGCTCTCAAGGAAATTTGAAACTTACTAATAGTTGAGGTTATTAAGGAATTATTATAAAAATGGTATTGTAATTATGCTTTTTAAAAATATCTATTATAGATACATATTGAAATATTTACAGATAAAATGATGTCTAGATTCAAAATAATGGAGGGGAGGGGAGTGGTTGACAGTATAGAT... | ATAAAAATATAGAGAACATTTTTTAAAAGAGGAAGGGTCACTTATAAATTAATAGAGGCTTGAGGAACATATCAGTCAATTACAACATATGGAATATATTTTGATCCTGATTCAAACAAAATGTTACAGAATTTTTTGAGGCTCTCAAGGAAATTTGAAACTTACTAATAGTTGAGGTTATTAAGGAATTATTATAAAAATGGTATTGTAATTATGCTTTTTAAAAATATCTATTATAGATACATATTGAAATATTTACAGATAAAATGATGTCTAGATTCAAAATAATGGAGGGGAGGGGAGTGGTTGACAGTATAGAT... | pathogenic | 80,549 |
Determine whether the variant at chromosome 4, position 15555152, in gene CC2D2A (coiled-coil and C2 domain containing 2A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | TAGGCTCAGTCCCTCTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTT... | TAGGCTCAGTCCCTCTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTT... | pathogenic | 80,554 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 15559262, gene CC2D2A (coiled-coil and C2 domain containing 2A). What disease(s) is it linked to if pathogenic? | benign | ACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCGAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAA... | ACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCGAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAA... | benign | 80,569 |
Considering the genetic mutation at chromosome 4, position 15560607, impacting CC2D2A (coiled-coil and C2 domain containing 2A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_and_related_disorders', 'Meckel-Gruber_syndrome'] | ACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTA... | ACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTA... | pathogenic | 80,573 |
Variant in gene CC2D2A (coiled-coil and C2 domain containing 2A), located at chromosome 4 position 15563422: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['CC2D2A-related_disorder', 'COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinal_dystrophy', 'Retinitis_pigmentosa_93'] | AAATGTGCAATCCATAGCAGCCCCTTTCCACATATAGAAAGGAGGCTACACCCACATAAATCCATGCAAAACCTCTCTCTCTATTCCAGGCCCACAGTCCAGTCATTGAATGTTTTCAAAGTCATGAAAATTACACTTAGAATAGATGATGATTTTTCATATTGTTTTTTTTTTCTTTTCCTTCCTTTTTTTCTGCTTTACTTTCTGCATTAAGTTCTGAAGGCTCAGGGTATGTTCTTTCTTCTTTTAATTTCAGTTCCTTCTTGGCTTTAAGATGTTTCTGTATTTGATGGTCCTGGCTGACATGGTGCTCCCATGCT... | AAATGTGCAATCCATAGCAGCCCCTTTCCACATATAGAAAGGAGGCTACACCCACATAAATCCATGCAAAACCTCTCTCTCTATTCCAGGCCCACAGTCCAGTCATTGAATGTTTTCAAAGTCATGAAAATTACACTTAGAATAGATGATGATTTTTCATATTGTTTTTTTTTTCTTTTCCTTCCTTTTTTTCTGCTTTACTTTCTGCATTAAGTTCTGAAGGCTCAGGGTATGTTCTTTCTTCTTTTAATTTCAGTTCCTTCTTGGCTTTAAGATGTTTCTGTATTTGATGGTCCTGGCTGACATGGTGCTCCCATGCT... | pathogenic | 80,579 |
Chromosome 4, position 15567469, gene CC2D2A (coiled-coil and C2 domain containing 2A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | CTCACTGTTCTAATACAGCCTCTGACCATCCCTCTAGTCTAATACCTATCTCACTTTATTGAGATGATTTGTTTATGTGTCTGCCTTCCAGTCTAGTCTGCAGTGAAGTGTTATCTTCATCTTAAAAGCCCAAAGTCTAACATGGGGCCTAAAATATAGGTACTAAACAAATGGGTTTTTGGGGGTTTTTAAATTTTACTTCTTAGACCCAGGGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGC... | CTCACTGTTCTAATACAGCCTCTGACCATCCCTCTAGTCTAATACCTATCTCACTTTATTGAGATGATTTGTTTATGTGTCTGCCTTCCAGTCTAGTCTGCAGTGAAGTGTTATCTTCATCTTAAAAGCCCAAAGTCTAACATGGGGCCTAAAATATAGGTACTAAACAAATGGGTTTTTGGGGGTTTTTAAATTTTACTTCTTAGACCCAGGGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGC... | pathogenic | 80,585 |
The mutation in gene CC2D2A (coiled-coil and C2 domain containing 2A) at chromosome 4, position 15567675—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['CC2D2A-related_disorder', 'COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Inborn_genetic_diseases', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | ACCCAGGGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTT... | ACCCAGGGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTT... | pathogenic | 80,588 |
A mutation at chromosome position 15567701 on chromosome 4 in gene CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['COACH_syndrome_2', 'Joubert_syndrome_9', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | GCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGG... | GCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGG... | pathogenic | 80,590 |
Chromosome 4, position 15570488, gene CC2D2A (coiled-coil and C2 domain containing 2A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | ATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTA... | ATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTA... | pathogenic | 80,598 |
Considering the genetic mutation at chromosome 4, position 15574148, impacting CC2D2A (coiled-coil and C2 domain containing 2A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | AGAAACCTGATTCAACAATAATAATATTAATAACAATATTTATTAGGTGCATATTATATGTTATTGCCGGGTAGTTTATACATCACCTCAATTAAACCTCACAACACAATTGGCATTGTCATCCTCATTTTATAAATGGAGAAACAGAAGCCTAGAGAGGTTAAGTAACTTGCTCAAATCACAAAGTTTACAATAGAGGTGGGATTCAACTTGTACTGGCTTTCAATATACTATCATTGCTTATGCCTGGGAAATGAGGTTGGTAAAAGCAGAGAAAACTATTGAACTTTTTTGTTTCTATGTTTCAGTACATTTTGGAG... | AGAAACCTGATTCAACAATAATAATATTAATAACAATATTTATTAGGTGCATATTATATGTTATTGCCGGGTAGTTTATACATCACCTCAATTAAACCTCACAACACAATTGGCATTGTCATCCTCATTTTATAAATGGAGAAACAGAAGCCTAGAGAGGTTAAGTAACTTGCTCAAATCACAAAGTTTACAATAGAGGTGGGATTCAACTTGTACTGGCTTTCAATATACTATCATTGCTTATGCCTGGGAAATGAGGTTGGTAAAAGCAGAGAAAACTATTGAACTTTTTTGTTTCTATGTTTCAGTACATTTTGGAG... | pathogenic | 80,601 |
Is the chromosome 4, position 15574231 variant in CC2D2A (coiled-coil and C2 domain containing 2A) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['COACH_syndrome_2', 'Joubert_syndrome_9', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | CACCTCAATTAAACCTCACAACACAATTGGCATTGTCATCCTCATTTTATAAATGGAGAAACAGAAGCCTAGAGAGGTTAAGTAACTTGCTCAAATCACAAAGTTTACAATAGAGGTGGGATTCAACTTGTACTGGCTTTCAATATACTATCATTGCTTATGCCTGGGAAATGAGGTTGGTAAAAGCAGAGAAAACTATTGAACTTTTTTGTTTCTATGTTTCAGTACATTTTGGAGAATGACTTTATTACTTCTGTCATTTAAAAAGTTTGACTCCAAAGTGCATGCTCTCAAGTGTACCCACATTTGGTAATGTCTAA... | CACCTCAATTAAACCTCACAACACAATTGGCATTGTCATCCTCATTTTATAAATGGAGAAACAGAAGCCTAGAGAGGTTAAGTAACTTGCTCAAATCACAAAGTTTACAATAGAGGTGGGATTCAACTTGTACTGGCTTTCAATATACTATCATTGCTTATGCCTGGGAAATGAGGTTGGTAAAAGCAGAGAAAACTATTGAACTTTTTTGTTTCTATGTTTCAGTACATTTTGGAGAATGACTTTATTACTTCTGTCATTTAAAAAGTTTGACTCCAAAGTGCATGCTCTCAAGTGTACCCACATTTGGTAATGTCTAA... | pathogenic | 80,603 |
The genetic variant at chromosome 4, position 15574297, affecting gene CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome'] | GCCTAGAGAGGTTAAGTAACTTGCTCAAATCACAAAGTTTACAATAGAGGTGGGATTCAACTTGTACTGGCTTTCAATATACTATCATTGCTTATGCCTGGGAAATGAGGTTGGTAAAAGCAGAGAAAACTATTGAACTTTTTTGTTTCTATGTTTCAGTACATTTTGGAGAATGACTTTATTACTTCTGTCATTTAAAAAGTTTGACTCCAAAGTGCATGCTCTCAAGTGTACCCACATTTGGTAATGTCTAAAGACATTTTTGGCTCTCACAACTAATAAGAGTTGGTACTGCCACTGACATCTAGTGTGCAGATGCT... | GCCTAGAGAGGTTAAGTAACTTGCTCAAATCACAAAGTTTACAATAGAGGTGGGATTCAACTTGTACTGGCTTTCAATATACTATCATTGCTTATGCCTGGGAAATGAGGTTGGTAAAAGCAGAGAAAACTATTGAACTTTTTTGTTTCTATGTTTCAGTACATTTTGGAGAATGACTTTATTACTTCTGTCATTTAAAAAGTTTGACTCCAAAGTGCATGCTCTCAAGTGTACCCACATTTGGTAATGTCTAAAGACATTTTTGGCTCTCACAACTAATAAGAGTTGGTACTGCCACTGACATCTAGTGTGCAGATGCT... | pathogenic | 80,605 |
Chromosome 4, position 15579967, gene CC2D2A (coiled-coil and C2 domain containing 2A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['CC2D2A-related_disorder', 'COACH_syndrome_1', 'COACH_syndrome_2', 'Ciliopathy', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | ATTTTTCAGACTCCCAACATTTTTCAAAACTTGGATGAATGAGTAAATGAAATAGTTTAGAGGAACACAGATGAATTCAACTGTGTCCTTTTTTGCACATCATTCTTGTTTTATAATTCTCCATTTTTCCACAATTACAATTACTCCTGGACTGACCATTCTACATTAGAAATCTGTGATACACCTACACCAAAGCTGTATGAGCTTACCTCTTTCACTTAGTTACATATTCATCGTAACTTTTATTAGGTAGCTACTGTCTTGGCACTATGCTCAGCAGCAGGCAGTTATGACTGTGATGATGTTAAGATTTAGATGTC... | ATTTTTCAGACTCCCAACATTTTTCAAAACTTGGATGAATGAGTAAATGAAATAGTTTAGAGGAACACAGATGAATTCAACTGTGTCCTTTTTTGCACATCATTCTTGTTTTATAATTCTCCATTTTTCCACAATTACAATTACTCCTGGACTGACCATTCTACATTAGAAATCTGTGATACACCTACACCAAAGCTGTATGAGCTTACCTCTTTCACTTAGTTACATATTCATCGTAACTTTTATTAGGTAGCTACTGTCTTGGCACTATGCTCAGCAGCAGGCAGTTATGACTGTGATGATGTTAAGATTTAGATGTC... | pathogenic | 80,608 |
Clinical significance of chromosome 4, position 15580086, gene CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome'] | TCCATTTTTCCACAATTACAATTACTCCTGGACTGACCATTCTACATTAGAAATCTGTGATACACCTACACCAAAGCTGTATGAGCTTACCTCTTTCACTTAGTTACATATTCATCGTAACTTTTATTAGGTAGCTACTGTCTTGGCACTATGCTCAGCAGCAGGCAGTTATGACTGTGATGATGTTAAGATTTAGATGTCAAGGGACATTTTATGAGAATATATAGGAGGCTTCTGGAGATATCTCCATCCTAAATAACCCCTACAACCACTACTCCAACTTCTTAGGGTATAGTAATCAAATCTGGAATAGAAGCCAC... | TCCATTTTTCCACAATTACAATTACTCCTGGACTGACCATTCTACATTAGAAATCTGTGATACACCTACACCAAAGCTGTATGAGCTTACCTCTTTCACTTAGTTACATATTCATCGTAACTTTTATTAGGTAGCTACTGTCTTGGCACTATGCTCAGCAGCAGGCAGTTATGACTGTGATGATGTTAAGATTTAGATGTCAAGGGACATTTTATGAGAATATATAGGAGGCTTCTGGAGATATCTCCATCCTAAATAACCCCTACAACCACTACTCCAACTTCTTAGGGTATAGTAATCAAATCTGGAATAGAAGCCAC... | pathogenic | 80,610 |
Mutation at chromosome 4, position 15580170, within CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6'] | GCTTACCTCTTTCACTTAGTTACATATTCATCGTAACTTTTATTAGGTAGCTACTGTCTTGGCACTATGCTCAGCAGCAGGCAGTTATGACTGTGATGATGTTAAGATTTAGATGTCAAGGGACATTTTATGAGAATATATAGGAGGCTTCTGGAGATATCTCCATCCTAAATAACCCCTACAACCACTACTCCAACTTCTTAGGGTATAGTAATCAAATCTGGAATAGAAGCCACAGTTCAGCCCCAATATAAGGGGCAGACAAGAACAATTGGGATAATCTAGATTCTATTTGAGGTCATAAAAAGTAATGAAATGTT... | GCTTACCTCTTTCACTTAGTTACATATTCATCGTAACTTTTATTAGGTAGCTACTGTCTTGGCACTATGCTCAGCAGCAGGCAGTTATGACTGTGATGATGTTAAGATTTAGATGTCAAGGGACATTTTATGAGAATATATAGGAGGCTTCTGGAGATATCTCCATCCTAAATAACCCCTACAACCACTACTCCAACTTCTTAGGGTATAGTAATCAAATCTGGAATAGAAGCCACAGTTCAGCCCCAATATAAGGGGCAGACAAGAACAATTGGGATAATCTAGATTCTATTTGAGGTCATAAAAAGTAATGAAATGTT... | pathogenic | 80,611 |
Clinical impact (benign or pathogenic) of the variant at chromosome 4, location 15587795, gene CC2D2A (coiled-coil and C2 domain containing 2A): what disease(s) if pathogenic? | benign | TTCCCAAGTACTATTGGGAACCACATGTCTTGGTTCCCAAGTACTATTACCCTCTCAACCAGGGCTCCTTAGAGAAATGACTGCTTTCAAGACTGGGCCAAGTGAAAATGCAAGATGATTCTAGAAAGTCTTTTTATATCAGAAAGTAAAGTAGTGCGAAATGAAAGAAAATTAAAAAAGACTTGTCAAAGGGACACAGTTTCTTCATCTGTAAAGAATGGGTAATAACAATAACCTTCCATATAGGATGTTTGGTGAGGATGGAGATATTAATACAATATTTAGTGAGCATTAGTTTCATTTTGTACATGTAAATGTTT... | TTCCCAAGTACTATTGGGAACCACATGTCTTGGTTCCCAAGTACTATTACCCTCTCAACCAGGGCTCCTTAGAGAAATGACTGCTTTCAAGACTGGGCCAAGTGAAAATGCAAGATGATTCTAGAAAGTCTTTTTATATCAGAAAGTAAAGTAGTGCGAAATGAAAGAAAATTAAAAAAGACTTGTCAAAGGGACACAGTTTCTTCATCTGTAAAGAATGGGTAATAACAATAACCTTCCATATAGGATGTTTGGTGAGGATGGAGATATTAATACAATATTTAGTGAGCATTAGTTTCATTTTGTACATGTAAATGTTT... | benign | 80,615 |
Determine whether the variant at chromosome 4, position 15587832, in gene CC2D2A (coiled-coil and C2 domain containing 2A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['CC2D2A-related_disorder', 'COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | CAAGTACTATTACCCTCTCAACCAGGGCTCCTTAGAGAAATGACTGCTTTCAAGACTGGGCCAAGTGAAAATGCAAGATGATTCTAGAAAGTCTTTTTATATCAGAAAGTAAAGTAGTGCGAAATGAAAGAAAATTAAAAAAGACTTGTCAAAGGGACACAGTTTCTTCATCTGTAAAGAATGGGTAATAACAATAACCTTCCATATAGGATGTTTGGTGAGGATGGAGATATTAATACAATATTTAGTGAGCATTAGTTTCATTTTGTACATGTAAATGTTTGTAATATTTGAGATTTAAGAAATGAGGTAGGGGATGC... | CAAGTACTATTACCCTCTCAACCAGGGCTCCTTAGAGAAATGACTGCTTTCAAGACTGGGCCAAGTGAAAATGCAAGATGATTCTAGAAAGTCTTTTTATATCAGAAAGTAAAGTAGTGCGAAATGAAAGAAAATTAAAAAAGACTTGTCAAAGGGACACAGTTTCTTCATCTGTAAAGAATGGGTAATAACAATAACCTTCCATATAGGATGTTTGGTGAGGATGGAGATATTAATACAATATTTAGTGAGCATTAGTTTCATTTTGTACATGTAAATGTTTGTAATATTTGAGATTTAAGAAATGAGGTAGGGGATGC... | pathogenic | 80,616 |
Located at chromosome 4 position 15587928, the variant affecting gene CC2D2A (coiled-coil and C2 domain containing 2A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Anencephaly', 'COACH_syndrome_2', 'Clubfoot', 'Encephalocele', 'Familial_aplasia_of_the_vermis', 'Inborn_genetic_diseases', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Microcephaly', 'Narrow_chest', 'Oligohydramnios', 'Polycystic_kidney_disease', 'Polydactyly', 'Polydactyly... | TTATATCAGAAAGTAAAGTAGTGCGAAATGAAAGAAAATTAAAAAAGACTTGTCAAAGGGACACAGTTTCTTCATCTGTAAAGAATGGGTAATAACAATAACCTTCCATATAGGATGTTTGGTGAGGATGGAGATATTAATACAATATTTAGTGAGCATTAGTTTCATTTTGTACATGTAAATGTTTGTAATATTTGAGATTTAAGAAATGAGGTAGGGGATGCAGCATTCTGTTTTATTATAAATTATTTTTGTAAAGCTCATTTTGATTATACAGGAACTGGTGGCTCGATATGTGTCCTTGATTCCCTTCTTGCCTG... | TTATATCAGAAAGTAAAGTAGTGCGAAATGAAAGAAAATTAAAAAAGACTTGTCAAAGGGACACAGTTTCTTCATCTGTAAAGAATGGGTAATAACAATAACCTTCCATATAGGATGTTTGGTGAGGATGGAGATATTAATACAATATTTAGTGAGCATTAGTTTCATTTTGTACATGTAAATGTTTGTAATATTTGAGATTTAAGAAATGAGGTAGGGGATGCAGCATTCTGTTTTATTATAAATTATTTTTGTAAAGCTCATTTTGATTATACAGGAACTGGTGGCTCGATATGTGTCCTTGATTCCCTTCTTGCCTG... | pathogenic | 80,617 |
Chromosome 4, position 15589619, gene CC2D2A (coiled-coil and C2 domain containing 2A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Inborn_genetic_diseases', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome'] | CTACCACAATCATAGTGAGTATTGATTCTAGAAATCCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGT... | CTACCACAATCATAGTGAGTATTGATTCTAGAAATCCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGT... | pathogenic | 80,620 |
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