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 |
|---|---|---|---|---|---|
Is the genetic mutation found on chromosome 2 at position 73490746, within the gene ALMS1 (ALMS1 centrosome and basal body associated protein), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Alstrom_syndrome'] | TCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGC... | TCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGC... | pathogenic | 39,766 |
Is the genetic variant on chromosome 2, position 73491107, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Alstrom_syndrome'] | AACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGT... | AACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGT... | pathogenic | 39,786 |
Clinically, how would you classify the variant at chromosome 2, position 73491208, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Alstrom_syndrome'] | CATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGC... | CATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGC... | pathogenic | 39,791 |
Regarding the variant found on chromosome 2 at position 73491344 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Alstrom_syndrome'] | GTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTG... | GTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTG... | pathogenic | 39,801 |
Gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant at chromosome 2, position 73519756—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | AGTGCAATGGCGCAATCTCGGTTCATTGCAACCCCTGCCCGCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTTGTATTATTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTTTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATACTGGGATTACAGGCGTGAGCCACCACGCCTGACCTATTTTTTATTTTTAAACTTTTAGGTTCAGGGGGTACATGTTCCAATTTGTTCTATAGGTAAACTTGTGT... | AGTGCAATGGCGCAATCTCGGTTCATTGCAACCCCTGCCCGCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTTGTATTATTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTTTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATACTGGGATTACAGGCGTGAGCCACCACGCCTGACCTATTTTTTATTTTTAAACTTTTAGGTTCAGGGGGTACATGTTCCAATTTGTTCTATAGGTAAACTTGTGT... | benign | 39,808 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 73519780, gene ALMS1 (ALMS1 centrosome and basal body associated protein): what disease(s) if pathogenic? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | ATTGCAACCCCTGCCCGCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTTGTATTATTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTTTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATACTGGGATTACAGGCGTGAGCCACCACGCCTGACCTATTTTTTATTTTTAAACTTTTAGGTTCAGGGGGTACATGTTCCAATTTGTTCTATAGGTAAACTTGTGTCATGGGGGTTTGTTTTACAGATTA... | ATTGCAACCCCTGCCCGCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTTGTATTATTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTTTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATACTGGGATTACAGGCGTGAGCCACCACGCCTGACCTATTTTTTATTTTTAAACTTTTAGGTTCAGGGGGTACATGTTCCAATTTGTTCTATAGGTAAACTTGTGTCATGGGGGTTTGTTTTACAGATTA... | pathogenic | 39,809 |
Gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant at chromosome position 73520034 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AGGGGGTACATGTTCCAATTTGTTCTATAGGTAAACTTGTGTCATGGGGGTTTGTTTTACAGATTATGTCATCACCCAGGTACTAAGCGTGGTACCCAGTAGTTTTTTTTTTTTTTCTGTTTGTCTCCCCTGTCCCTCCACCCTCAAGTAGGCCCCAGTGTCTGTTGTTCCCCTCTTTGTGTCCATGAGTTCTCATCATTTAGCTCCCACTTATAAATGTGAGGATGCAGTATTTGGTTTTCTGTTCCTGCATTAGTTTGCTAAGGATAATGACCTCCAGCTCCATCCATGTTCTGCAAAAGACATGATCTTGTTCTTTT... | AGGGGGTACATGTTCCAATTTGTTCTATAGGTAAACTTGTGTCATGGGGGTTTGTTTTACAGATTATGTCATCACCCAGGTACTAAGCGTGGTACCCAGTAGTTTTTTTTTTTTTTCTGTTTGTCTCCCCTGTCCCTCCACCCTCAAGTAGGCCCCAGTGTCTGTTGTTCCCCTCTTTGTGTCCATGAGTTCTCATCATTTAGCTCCCACTTATAAATGTGAGGATGCAGTATTTGGTTTTCTGTTCCTGCATTAGTTTGCTAAGGATAATGACCTCCAGCTCCATCCATGTTCTGCAAAAGACATGATCTTGTTCTTTT... | benign | 39,829 |
Chromosome 2, position 73534938, gene ALMS1 (ALMS1 centrosome and basal body associated protein): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Alstrom_syndrome', 'Retinal_dystrophy'] | TGGCTACCACTGCTCACTATTCAGGACCCAAGTACTCTTTAGTCAGCAGGTGATGAATCCTGCCAGGACTGGGTCCTTCCCTGCAAGGCAGCAAGTTCCTTTCTGGCCCAGGGTATGTCTAGAAATGTCCAGGAACTAGGTCATGGAATGGAGGCCTCAGGACTCTGCCTGGCATCTCTATCATTCTGTGGCTGAGCTAGTATCCAGGTTGCAAGAGAAAGGTCTGTTTAATCTTCCGTCTTCCGAAGTGAAAGGAAGGACCCTCTCCTGGAGCAAGCTGTGCTGTCTAGGTTTGGGTATGGAGTGGTGCAAGTGCTTCC... | TGGCTACCACTGCTCACTATTCAGGACCCAAGTACTCTTTAGTCAGCAGGTGATGAATCCTGCCAGGACTGGGTCCTTCCCTGCAAGGCAGCAAGTTCCTTTCTGGCCCAGGGTATGTCTAGAAATGTCCAGGAACTAGGTCATGGAATGGAGGCCTCAGGACTCTGCCTGGCATCTCTATCATTCTGTGGCTGAGCTAGTATCCAGGTTGCAAGAGAAAGGTCTGTTTAATCTTCCGTCTTCCGAAGTGAAAGGAAGGACCCTCTCCTGGAGCAAGCTGTGCTGTCTAGGTTTGGGTATGGAGTGGTGCAAGTGCTTCC... | pathogenic | 39,845 |
Does the genetic variant at chromosome 2, position 73550275, impacting gene ALMS1 (ALMS1 centrosome and basal body associated protein), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Alstrom_syndrome'] | ACTTTTATGAAAACATACAGATGGGCATGAATATTCCAGATCTTTAGTTAGAGTTCTGGAGCAATAATGTTAACTCTTGTGCTGCCCCAAACATAAATCTATACTCGCACATACTATAGCTATGCACAGGTACAGGAAAATAAGTATATGTACATTCACTGACACGCACACATGTGTGGCTGCACTCTCTCAGCTGCCTCTCACCTCCTCTGAGGTTGATTCTCTTGCTTATTCACCCACTGCTCTCAGGGATGTAATTGTTCCTCACCTGACTCTGAACTTGAAAGGGTCATCTCTCTTGGAGAACGAGGGGTGGTGGT... | ACTTTTATGAAAACATACAGATGGGCATGAATATTCCAGATCTTTAGTTAGAGTTCTGGAGCAATAATGTTAACTCTTGTGCTGCCCCAAACATAAATCTATACTCGCACATACTATAGCTATGCACAGGTACAGGAAAATAAGTATATGTACATTCACTGACACGCACACATGTGTGGCTGCACTCTCTCAGCTGCCTCTCACCTCCTCTGAGGTTGATTCTCTTGCTTATTCACCCACTGCTCTCAGGGATGTAATTGTTCCTCACCTGACTCTGAACTTGAAAGGGTCATCTCTCTTGGAGAACGAGGGGTGGTGGT... | pathogenic | 39,856 |
Classify the chromosome 2 variant at position 73557266 affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | ACTTATTACATGTGTAGCTTATTTAAGACATCATTTACAAAGGAATAAACAGAAAGAAAAATGAAACAGAATGGTGACCCAGAAACATATCCATGAATGTGGAAACCTAACATACACAGAGATGGCATAACAATCTGTGGAGAAAGGATGAAGAGGAACTATTCAATAGAGTTTGAACCAATGAATATATATCTGGAAAAAATAAAATCAGATAAATCACTGCCACACACTAAACAGAAATGTATAGTATACCAGGCATATTAAAAGTAAATGGGATAACTAAGTTTTTAGAATTTAGATGGTCTGTCCTTATGACCATG... | ACTTATTACATGTGTAGCTTATTTAAGACATCATTTACAAAGGAATAAACAGAAAGAAAAATGAAACAGAATGGTGACCCAGAAACATATCCATGAATGTGGAAACCTAACATACACAGAGATGGCATAACAATCTGTGGAGAAAGGATGAAGAGGAACTATTCAATAGAGTTTGAACCAATGAATATATATCTGGAAAAAATAAAATCAGATAAATCACTGCCACACACTAAACAGAAATGTATAGTATACCAGGCATATTAAAAGTAAATGGGATAACTAAGTTTTTAGAATTTAGATGGTCTGTCCTTATGACCATG... | pathogenic | 39,864 |
The genetic variant at chromosome 2, position 73557286, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Alstrom_syndrome'] | ATTTAAGACATCATTTACAAAGGAATAAACAGAAAGAAAAATGAAACAGAATGGTGACCCAGAAACATATCCATGAATGTGGAAACCTAACATACACAGAGATGGCATAACAATCTGTGGAGAAAGGATGAAGAGGAACTATTCAATAGAGTTTGAACCAATGAATATATATCTGGAAAAAATAAAATCAGATAAATCACTGCCACACACTAAACAGAAATGTATAGTATACCAGGCATATTAAAAGTAAATGGGATAACTAAGTTTTTAGAATTTAGATGGTCTGTCCTTATGACCATGTGATAATAAAAGATTTCTTA... | ATTTAAGACATCATTTACAAAGGAATAAACAGAAAGAAAAATGAAACAGAATGGTGACCCAGAAACATATCCATGAATGTGGAAACCTAACATACACAGAGATGGCATAACAATCTGTGGAGAAAGGATGAAGAGGAACTATTCAATAGAGTTTGAACCAATGAATATATATCTGGAAAAAATAAAATCAGATAAATCACTGCCACACACTAAACAGAAATGTATAGTATACCAGGCATATTAAAAGTAAATGGGATAACTAAGTTTTTAGAATTTAGATGGTCTGTCCTTATGACCATGTGATAATAAAAGATTTCTTA... | pathogenic | 39,867 |
Clinical significance of chromosome 2, position 73572432, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | GAACATTTCCTGGAAATTGGCCATACATTGAGGTCATTGATCATATTAGCAAGAGCACTTTTAGTCCAGAAGTATGGCTGTACTCTGCAGTAATTTGAAGAGGGAATTGGGGTAGGGAGAGAGGTAAAGGAGAGGAAAATAGGTTCCTCTTTAGAAGCTTGGCTATGAAGAGGAGCAGAGAAGTGGGCCAGTACCTGGAGGAAGATGTGAGGATTTTCTAAACATACATACTAAATGATGTTTTCAAGCCAATGGAAATGACCCTGAAAGATAGAAGAGAGATATGATAGGGAAAGGAAGCAAGGTCTGGAAGGGAAGAT... | GAACATTTCCTGGAAATTGGCCATACATTGAGGTCATTGATCATATTAGCAAGAGCACTTTTAGTCCAGAAGTATGGCTGTACTCTGCAGTAATTTGAAGAGGGAATTGGGGTAGGGAGAGAGGTAAAGGAGAGGAAAATAGGTTCCTCTTTAGAAGCTTGGCTATGAAGAGGAGCAGAGAAGTGGGCCAGTACCTGGAGGAAGATGTGAGGATTTTCTAAACATACATACTAAATGATGTTTTCAAGCCAATGGAAATGACCCTGAAAGATAGAAGAGAGATATGATAGGGAAAGGAAGCAAGGTCTGGAAGGGAAGAT... | pathogenic | 39,895 |
Evaluate this variant at chromosome 2, position 73572441, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Alstrom_syndrome'] | CTGGAAATTGGCCATACATTGAGGTCATTGATCATATTAGCAAGAGCACTTTTAGTCCAGAAGTATGGCTGTACTCTGCAGTAATTTGAAGAGGGAATTGGGGTAGGGAGAGAGGTAAAGGAGAGGAAAATAGGTTCCTCTTTAGAAGCTTGGCTATGAAGAGGAGCAGAGAAGTGGGCCAGTACCTGGAGGAAGATGTGAGGATTTTCTAAACATACATACTAAATGATGTTTTCAAGCCAATGGAAATGACCCTGAAAGATAGAAGAGAGATATGATAGGGAAAGGAAGCAAGGTCTGGAAGGGAAGATGAGTTGGGT... | CTGGAAATTGGCCATACATTGAGGTCATTGATCATATTAGCAAGAGCACTTTTAGTCCAGAAGTATGGCTGTACTCTGCAGTAATTTGAAGAGGGAATTGGGGTAGGGAGAGAGGTAAAGGAGAGGAAAATAGGTTCCTCTTTAGAAGCTTGGCTATGAAGAGGAGCAGAGAAGTGGGCCAGTACCTGGAGGAAGATGTGAGGATTTTCTAAACATACATACTAAATGATGTTTTCAAGCCAATGGAAATGACCCTGAAAGATAGAAGAGAGATATGATAGGGAAAGGAAGCAAGGTCTGGAAGGGAAGATGAGTTGGGT... | pathogenic | 39,896 |
Considering the variant on chromosome 2, location 73572492, involving gene ALMS1 (ALMS1 centrosome and basal body associated protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | TTAGTCCAGAAGTATGGCTGTACTCTGCAGTAATTTGAAGAGGGAATTGGGGTAGGGAGAGAGGTAAAGGAGAGGAAAATAGGTTCCTCTTTAGAAGCTTGGCTATGAAGAGGAGCAGAGAAGTGGGCCAGTACCTGGAGGAAGATGTGAGGATTTTCTAAACATACATACTAAATGATGTTTTCAAGCCAATGGAAATGACCCTGAAAGATAGAAGAGAGATATGATAGGGAAAGGAAGCAAGGTCTGGAAGGGAAGATGAGTTGGGTTCCAGAGCAGCATTGGAGGAACTTGCCTTTAAAAGAATGGGAGAGGTGGTG... | TTAGTCCAGAAGTATGGCTGTACTCTGCAGTAATTTGAAGAGGGAATTGGGGTAGGGAGAGAGGTAAAGGAGAGGAAAATAGGTTCCTCTTTAGAAGCTTGGCTATGAAGAGGAGCAGAGAAGTGGGCCAGTACCTGGAGGAAGATGTGAGGATTTTCTAAACATACATACTAAATGATGTTTTCAAGCCAATGGAAATGACCCTGAAAGATAGAAGAGAGATATGATAGGGAAAGGAAGCAAGGTCTGGAAGGGAAGATGAGTTGGGTTCCAGAGCAGCATTGGAGGAACTTGCCTTTAAAAGAATGGGAGAGGTGGTG... | pathogenic | 39,899 |
Determine if the mutation at chromosome 2, position 73572648 in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype', 'Retinal_dystrophy'] | TCTAAACATACATACTAAATGATGTTTTCAAGCCAATGGAAATGACCCTGAAAGATAGAAGAGAGATATGATAGGGAAAGGAAGCAAGGTCTGGAAGGGAAGATGAGTTGGGTTCCAGAGCAGCATTGGAGGAACTTGCCTTTAAAAGAATGGGAGAGGTGGTGTTGTCTCTGTATCCAGAAAGGTTATGGGAGCAGGTGGATTGGCATAGGTGGCAGCTGCCTCAGGACATCCACAGAAAGTGATCCCTCAGCCCAGAATGTTCTTCTTCCTGTTTGTTTGTTTAGCTCTCATTTTTACTTCACATCTCATCCTCCTCA... | TCTAAACATACATACTAAATGATGTTTTCAAGCCAATGGAAATGACCCTGAAAGATAGAAGAGAGATATGATAGGGAAAGGAAGCAAGGTCTGGAAGGGAAGATGAGTTGGGTTCCAGAGCAGCATTGGAGGAACTTGCCTTTAAAAGAATGGGAGAGGTGGTGTTGTCTCTGTATCCAGAAAGGTTATGGGAGCAGGTGGATTGGCATAGGTGGCAGCTGCCTCAGGACATCCACAGAAAGTGATCCCTCAGCCCAGAATGTTCTTCTTCCTGTTTGTTTGTTTAGCTCTCATTTTTACTTCACATCTCATCCTCCTCA... | pathogenic | 39,905 |
Clinical classification of chromosome 2, position 73572661, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | ACTAAATGATGTTTTCAAGCCAATGGAAATGACCCTGAAAGATAGAAGAGAGATATGATAGGGAAAGGAAGCAAGGTCTGGAAGGGAAGATGAGTTGGGTTCCAGAGCAGCATTGGAGGAACTTGCCTTTAAAAGAATGGGAGAGGTGGTGTTGTCTCTGTATCCAGAAAGGTTATGGGAGCAGGTGGATTGGCATAGGTGGCAGCTGCCTCAGGACATCCACAGAAAGTGATCCCTCAGCCCAGAATGTTCTTCTTCCTGTTTGTTTGTTTAGCTCTCATTTTTACTTCACATCTCATCCTCCTCAGAGAATTCTTCTC... | ACTAAATGATGTTTTCAAGCCAATGGAAATGACCCTGAAAGATAGAAGAGAGATATGATAGGGAAAGGAAGCAAGGTCTGGAAGGGAAGATGAGTTGGGTTCCAGAGCAGCATTGGAGGAACTTGCCTTTAAAAGAATGGGAGAGGTGGTGTTGTCTCTGTATCCAGAAAGGTTATGGGAGCAGGTGGATTGGCATAGGTGGCAGCTGCCTCAGGACATCCACAGAAAGTGATCCCTCAGCCCAGAATGTTCTTCTTCCTGTTTGTTTGTTTAGCTCTCATTTTTACTTCACATCTCATCCTCCTCAGAGAATTCTTCTC... | pathogenic | 39,907 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 73572669, gene ALMS1 (ALMS1 centrosome and basal body associated protein). What disease(s) is it linked to if pathogenic? | pathogenic; ['Alstrom_syndrome'] | ATGTTTTCAAGCCAATGGAAATGACCCTGAAAGATAGAAGAGAGATATGATAGGGAAAGGAAGCAAGGTCTGGAAGGGAAGATGAGTTGGGTTCCAGAGCAGCATTGGAGGAACTTGCCTTTAAAAGAATGGGAGAGGTGGTGTTGTCTCTGTATCCAGAAAGGTTATGGGAGCAGGTGGATTGGCATAGGTGGCAGCTGCCTCAGGACATCCACAGAAAGTGATCCCTCAGCCCAGAATGTTCTTCTTCCTGTTTGTTTGTTTAGCTCTCATTTTTACTTCACATCTCATCCTCCTCAGAGAATTCTTCTCTAGCTACC... | ATGTTTTCAAGCCAATGGAAATGACCCTGAAAGATAGAAGAGAGATATGATAGGGAAAGGAAGCAAGGTCTGGAAGGGAAGATGAGTTGGGTTCCAGAGCAGCATTGGAGGAACTTGCCTTTAAAAGAATGGGAGAGGTGGTGTTGTCTCTGTATCCAGAAAGGTTATGGGAGCAGGTGGATTGGCATAGGTGGCAGCTGCCTCAGGACATCCACAGAAAGTGATCCCTCAGCCCAGAATGTTCTTCTTCCTGTTTGTTTGTTTAGCTCTCATTTTTACTTCACATCTCATCCTCCTCAGAGAATTCTTCTCTAGCTACC... | pathogenic | 39,910 |
Considering the variant on chromosome 2, location 73572702, involving gene ALMS1 (ALMS1 centrosome and basal body associated protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Alstrom_syndrome'] | ATAGAAGAGAGATATGATAGGGAAAGGAAGCAAGGTCTGGAAGGGAAGATGAGTTGGGTTCCAGAGCAGCATTGGAGGAACTTGCCTTTAAAAGAATGGGAGAGGTGGTGTTGTCTCTGTATCCAGAAAGGTTATGGGAGCAGGTGGATTGGCATAGGTGGCAGCTGCCTCAGGACATCCACAGAAAGTGATCCCTCAGCCCAGAATGTTCTTCTTCCTGTTTGTTTGTTTAGCTCTCATTTTTACTTCACATCTCATCCTCCTCAGAGAATTCTTCTCTAGCTACCATTTCCCAGTAAAATTTCTCTTATATCAGCTTG... | ATAGAAGAGAGATATGATAGGGAAAGGAAGCAAGGTCTGGAAGGGAAGATGAGTTGGGTTCCAGAGCAGCATTGGAGGAACTTGCCTTTAAAAGAATGGGAGAGGTGGTGTTGTCTCTGTATCCAGAAAGGTTATGGGAGCAGGTGGATTGGCATAGGTGGCAGCTGCCTCAGGACATCCACAGAAAGTGATCCCTCAGCCCAGAATGTTCTTCTTCCTGTTTGTTTGTTTAGCTCTCATTTTTACTTCACATCTCATCCTCCTCAGAGAATTCTTCTCTAGCTACCATTTCCCAGTAAAATTTCTCTTATATCAGCTTG... | pathogenic | 39,914 |
Mutation at chromosome 2, position 73572953, within ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['ALMS1-related_disorder', 'Alstrom_syndrome', 'Retinal_dystrophy'] | ATCTCATCCTCCTCAGAGAATTCTTCTCTAGCTACCATTTCCCAGTAAAATTTCTCTTATATCAGCTTGTTTTTGTTCTTTGTAGCCCCTAATTTAGAATTATATATTTGTTTGCATTTGTTCAGTGCAGAAGCTGCAATCTCAAGAACCTGTAGAATCTAAATGAAATCTCCCAATTTTTAAATGTTGCTAGATAATTCTAAAATTGTATAGTCTACATACTTTAGGTATAAATGCAGGCCCTGTGTGTCCCACTCTACTCTGGGGAAGTCCGTAGGGATTCCTAGAGTATTTCATGAAAACTCTGCTTGCCAGTAATC... | ATCTCATCCTCCTCAGAGAATTCTTCTCTAGCTACCATTTCCCAGTAAAATTTCTCTTATATCAGCTTGTTTTTGTTCTTTGTAGCCCCTAATTTAGAATTATATATTTGTTTGCATTTGTTCAGTGCAGAAGCTGCAATCTCAAGAACCTGTAGAATCTAAATGAAATCTCCCAATTTTTAAATGTTGCTAGATAATTCTAAAATTGTATAGTCTACATACTTTAGGTATAAATGCAGGCCCTGTGTGTCCCACTCTACTCTGGGGAAGTCCGTAGGGATTCCTAGAGTATTTCATGAAAACTCTGCTTGCCAGTAATC... | pathogenic | 39,929 |
Variant on chromosome 2, at position 73572953, affecting ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['ALMS1-related_disorder', 'Alstrom_syndrome'] | ATCTCATCCTCCTCAGAGAATTCTTCTCTAGCTACCATTTCCCAGTAAAATTTCTCTTATATCAGCTTGTTTTTGTTCTTTGTAGCCCCTAATTTAGAATTATATATTTGTTTGCATTTGTTCAGTGCAGAAGCTGCAATCTCAAGAACCTGTAGAATCTAAATGAAATCTCCCAATTTTTAAATGTTGCTAGATAATTCTAAAATTGTATAGTCTACATACTTTAGGTATAAATGCAGGCCCTGTGTGTCCCACTCTACTCTGGGGAAGTCCGTAGGGATTCCTAGAGTATTTCATGAAAACTCTGCTTGCCAGTAATC... | ATCTCATCCTCCTCAGAGAATTCTTCTCTAGCTACCATTTCCCAGTAAAATTTCTCTTATATCAGCTTGTTTTTGTTCTTTGTAGCCCCTAATTTAGAATTATATATTTGTTTGCATTTGTTCAGTGCAGAAGCTGCAATCTCAAGAACCTGTAGAATCTAAATGAAATCTCCCAATTTTTAAATGTTGCTAGATAATTCTAAAATTGTATAGTCTACATACTTTAGGTATAAATGCAGGCCCTGTGTGTCCCACTCTACTCTGGGGAAGTCCGTAGGGATTCCTAGAGTATTTCATGAAAACTCTGCTTGCCAGTAATC... | pathogenic | 39,930 |
Benign or pathogenic: chromosome 2, position 73572989, gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant? Disease(s) if pathogenic? | pathogenic; ['Alstrom_syndrome'] | ATTTCCCAGTAAAATTTCTCTTATATCAGCTTGTTTTTGTTCTTTGTAGCCCCTAATTTAGAATTATATATTTGTTTGCATTTGTTCAGTGCAGAAGCTGCAATCTCAAGAACCTGTAGAATCTAAATGAAATCTCCCAATTTTTAAATGTTGCTAGATAATTCTAAAATTGTATAGTCTACATACTTTAGGTATAAATGCAGGCCCTGTGTGTCCCACTCTACTCTGGGGAAGTCCGTAGGGATTCCTAGAGTATTTCATGAAAACTCTGCTTGCCAGTAATCTATAGTGTGGGTGAAAAGGATCCCATCATTGCATGT... | ATTTCCCAGTAAAATTTCTCTTATATCAGCTTGTTTTTGTTCTTTGTAGCCCCTAATTTAGAATTATATATTTGTTTGCATTTGTTCAGTGCAGAAGCTGCAATCTCAAGAACCTGTAGAATCTAAATGAAATCTCCCAATTTTTAAATGTTGCTAGATAATTCTAAAATTGTATAGTCTACATACTTTAGGTATAAATGCAGGCCCTGTGTGTCCCACTCTACTCTGGGGAAGTCCGTAGGGATTCCTAGAGTATTTCATGAAAACTCTGCTTGCCAGTAATCTATAGTGTGGGTGAAAAGGATCCCATCATTGCATGT... | pathogenic | 39,933 |
The chromosome 2, position 73573183 genetic variant in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | TAAATGCAGGCCCTGTGTGTCCCACTCTACTCTGGGGAAGTCCGTAGGGATTCCTAGAGTATTTCATGAAAACTCTGCTTGCCAGTAATCTATAGTGTGGGTGAAAAGGATCCCATCATTGCATGTGTGTATCTTTGTTTCTGCCCATGATGTAGAACTCTAAAACAGTGTTTTGATGTCATATCAGAGATTAGAATTAGGGTTTATGATTGTGTCTTAGCTCATTCCTGCTGCTGTAACAAAATTCTGCAGATCTAAGATCAAGGCACCAGCAGATTGGGTGTCTGGTGAGAGCCCAGTCTCTGCTTCCAAAATGGTGT... | TAAATGCAGGCCCTGTGTGTCCCACTCTACTCTGGGGAAGTCCGTAGGGATTCCTAGAGTATTTCATGAAAACTCTGCTTGCCAGTAATCTATAGTGTGGGTGAAAAGGATCCCATCATTGCATGTGTGTATCTTTGTTTCTGCCCATGATGTAGAACTCTAAAACAGTGTTTTGATGTCATATCAGAGATTAGAATTAGGGTTTATGATTGTGTCTTAGCTCATTCCTGCTGCTGTAACAAAATTCTGCAGATCTAAGATCAAGGCACCAGCAGATTGGGTGTCTGGTGAGAGCCCAGTCTCTGCTTCCAAAATGGTGT... | pathogenic | 39,945 |
Evaluate if the mutation on chromosome 2 at position 73573187 in ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | TGCAGGCCCTGTGTGTCCCACTCTACTCTGGGGAAGTCCGTAGGGATTCCTAGAGTATTTCATGAAAACTCTGCTTGCCAGTAATCTATAGTGTGGGTGAAAAGGATCCCATCATTGCATGTGTGTATCTTTGTTTCTGCCCATGATGTAGAACTCTAAAACAGTGTTTTGATGTCATATCAGAGATTAGAATTAGGGTTTATGATTGTGTCTTAGCTCATTCCTGCTGCTGTAACAAAATTCTGCAGATCTAAGATCAAGGCACCAGCAGATTGGGTGTCTGGTGAGAGCCCAGTCTCTGCTTCCAAAATGGTGTCTTG... | TGCAGGCCCTGTGTGTCCCACTCTACTCTGGGGAAGTCCGTAGGGATTCCTAGAGTATTTCATGAAAACTCTGCTTGCCAGTAATCTATAGTGTGGGTGAAAAGGATCCCATCATTGCATGTGTGTATCTTTGTTTCTGCCCATGATGTAGAACTCTAAAACAGTGTTTTGATGTCATATCAGAGATTAGAATTAGGGTTTATGATTGTGTCTTAGCTCATTCCTGCTGCTGTAACAAAATTCTGCAGATCTAAGATCAAGGCACCAGCAGATTGGGTGTCTGGTGAGAGCCCAGTCTCTGCTTCCAAAATGGTGTCTTG... | pathogenic | 39,947 |
Assess the variant on chromosome 2, position 73573255, impacting ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Alstrom_syndrome'] | CTCTGCTTGCCAGTAATCTATAGTGTGGGTGAAAAGGATCCCATCATTGCATGTGTGTATCTTTGTTTCTGCCCATGATGTAGAACTCTAAAACAGTGTTTTGATGTCATATCAGAGATTAGAATTAGGGTTTATGATTGTGTCTTAGCTCATTCCTGCTGCTGTAACAAAATTCTGCAGATCTAAGATCAAGGCACCAGCAGATTGGGTGTCTGGTGAGAGCCCAGTCTCTGCTTCCAAAATGGTGTCTTGTTGCTTTGTCCTCACGTGGTGGAAGGCAGGGAAAGGCCAAACAGGAGCCTTCAGGCCAAAGGGCACTA... | CTCTGCTTGCCAGTAATCTATAGTGTGGGTGAAAAGGATCCCATCATTGCATGTGTGTATCTTTGTTTCTGCCCATGATGTAGAACTCTAAAACAGTGTTTTGATGTCATATCAGAGATTAGAATTAGGGTTTATGATTGTGTCTTAGCTCATTCCTGCTGCTGTAACAAAATTCTGCAGATCTAAGATCAAGGCACCAGCAGATTGGGTGTCTGGTGAGAGCCCAGTCTCTGCTTCCAAAATGGTGTCTTGTTGCTTTGTCCTCACGTGGTGGAAGGCAGGGAAAGGCCAAACAGGAGCCTTCAGGCCAAAGGGCACTA... | pathogenic | 39,953 |
A genetic alteration at chromosome 2, position 73573323, in gene ALMS1 (ALMS1 centrosome and basal body associated protein)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | CTGCCCATGATGTAGAACTCTAAAACAGTGTTTTGATGTCATATCAGAGATTAGAATTAGGGTTTATGATTGTGTCTTAGCTCATTCCTGCTGCTGTAACAAAATTCTGCAGATCTAAGATCAAGGCACCAGCAGATTGGGTGTCTGGTGAGAGCCCAGTCTCTGCTTCCAAAATGGTGTCTTGTTGCTTTGTCCTCACGTGGTGGAAGGCAGGGAAAGGCCAAACAGGAGCCTTCAGGCCAAAGGGCACTAATCCCATTCATGAAGGTGGAGCCTTCATGACCTAATCACCTCCTACCTAATACTATTATATTGGGGAT... | CTGCCCATGATGTAGAACTCTAAAACAGTGTTTTGATGTCATATCAGAGATTAGAATTAGGGTTTATGATTGTGTCTTAGCTCATTCCTGCTGCTGTAACAAAATTCTGCAGATCTAAGATCAAGGCACCAGCAGATTGGGTGTCTGGTGAGAGCCCAGTCTCTGCTTCCAAAATGGTGTCTTGTTGCTTTGTCCTCACGTGGTGGAAGGCAGGGAAAGGCCAAACAGGAGCCTTCAGGCCAAAGGGCACTAATCCCATTCATGAAGGTGGAGCCTTCATGACCTAATCACCTCCTACCTAATACTATTATATTGGGGAT... | pathogenic | 39,962 |
Considering the genetic mutation at chromosome 2, position 73599465, impacting ALMS1 (ALMS1 centrosome and basal body associated protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype', 'Retinal_dystrophy'] | GAGACATTTTATAAATAAAAAAGCAAACACCTACATATACTTTTTTAGTACCTAACATGCTTTCTTCCCCTTTTTTATAGCTGCAGAGAAGGTATAATGTATTTCATATCAGTCACTTCTTTTTTATGTTCCCTTTTTTAAGGAGAAAATAAAAATATATTTTTTAACATCATTTTAGTCTCTAGTTTTATATCAGTGTTTTATATTTTACCATCTAAATCATCTGTTATTTCTAAAATGCAGATTTCGTTTCCTTTTCTAGATGGGGAAACTGACACAAAGAGGTTATGGCTTGCCTAAATAGAGACCGCTAATAAAGG... | GAGACATTTTATAAATAAAAAAGCAAACACCTACATATACTTTTTTAGTACCTAACATGCTTTCTTCCCCTTTTTTATAGCTGCAGAGAAGGTATAATGTATTTCATATCAGTCACTTCTTTTTTATGTTCCCTTTTTTAAGGAGAAAATAAAAATATATTTTTTAACATCATTTTAGTCTCTAGTTTTATATCAGTGTTTTATATTTTACCATCTAAATCATCTGTTATTTCTAAAATGCAGATTTCGTTTCCTTTTCTAGATGGGGAAACTGACACAAAGAGGTTATGGCTTGCCTAAATAGAGACCGCTAATAAAGG... | pathogenic | 39,976 |
Clinically, how would you classify the variant at chromosome 2, position 73599501, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | ATACTTTTTTAGTACCTAACATGCTTTCTTCCCCTTTTTTATAGCTGCAGAGAAGGTATAATGTATTTCATATCAGTCACTTCTTTTTTATGTTCCCTTTTTTAAGGAGAAAATAAAAATATATTTTTTAACATCATTTTAGTCTCTAGTTTTATATCAGTGTTTTATATTTTACCATCTAAATCATCTGTTATTTCTAAAATGCAGATTTCGTTTCCTTTTCTAGATGGGGAAACTGACACAAAGAGGTTATGGCTTGCCTAAATAGAGACCGCTAATAAAGGGAAGACCTGAAACTGGCCTAGCTGTTTGGAATCCTG... | ATACTTTTTTAGTACCTAACATGCTTTCTTCCCCTTTTTTATAGCTGCAGAGAAGGTATAATGTATTTCATATCAGTCACTTCTTTTTTATGTTCCCTTTTTTAAGGAGAAAATAAAAATATATTTTTTAACATCATTTTAGTCTCTAGTTTTATATCAGTGTTTTATATTTTACCATCTAAATCATCTGTTATTTCTAAAATGCAGATTTCGTTTCCTTTTCTAGATGGGGAAACTGACACAAAGAGGTTATGGCTTGCCTAAATAGAGACCGCTAATAAAGGGAAGACCTGAAACTGGCCTAGCTGTTTGGAATCCTG... | pathogenic | 39,977 |
Considering the genetic mutation at chromosome 2, position 73599519, impacting ALMS1 (ALMS1 centrosome and basal body associated protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | ACATGCTTTCTTCCCCTTTTTTATAGCTGCAGAGAAGGTATAATGTATTTCATATCAGTCACTTCTTTTTTATGTTCCCTTTTTTAAGGAGAAAATAAAAATATATTTTTTAACATCATTTTAGTCTCTAGTTTTATATCAGTGTTTTATATTTTACCATCTAAATCATCTGTTATTTCTAAAATGCAGATTTCGTTTCCTTTTCTAGATGGGGAAACTGACACAAAGAGGTTATGGCTTGCCTAAATAGAGACCGCTAATAAAGGGAAGACCTGAAACTGGCCTAGCTGTTTGGAATCCTGACACAGAGCTTTTTTTTT... | ACATGCTTTCTTCCCCTTTTTTATAGCTGCAGAGAAGGTATAATGTATTTCATATCAGTCACTTCTTTTTTATGTTCCCTTTTTTAAGGAGAAAATAAAAATATATTTTTTAACATCATTTTAGTCTCTAGTTTTATATCAGTGTTTTATATTTTACCATCTAAATCATCTGTTATTTCTAAAATGCAGATTTCGTTTCCTTTTCTAGATGGGGAAACTGACACAAAGAGGTTATGGCTTGCCTAAATAGAGACCGCTAATAAAGGGAAGACCTGAAACTGGCCTAGCTGTTTGGAATCCTGACACAGAGCTTTTTTTTT... | pathogenic | 39,978 |
Evaluate the clinical significance of the mutation at chromosome 2, position 73600703 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Alstrom_syndrome', 'Retinal_dystrophy'] | GATTACCAGACCCCTCCCCTAGAGATTCCAATTCATTATTCTGGGTTAGCCTCCCTCTGTCCTTATTAACGATGGAGATATTAACAATGAACAAGTTTAAGAAGCACTATTTTACACTATAGTATTTGTTCAGCTATATCTTGTTAATCATTTTGTCATCCACCGACATTCCACCATCAGCTGCAATCCCTGAAATTGCCTTCATTGCTCTACTTGCTCTGAACGTAATTTAAAAGGCCTTTGGGACTCTCTAATACTTTTTGCAATGCTCTACTCATCAGGACGTCTCACGAGCCTTGTAGGTCTTTGGTGTTTGTCTT... | GATTACCAGACCCCTCCCCTAGAGATTCCAATTCATTATTCTGGGTTAGCCTCCCTCTGTCCTTATTAACGATGGAGATATTAACAATGAACAAGTTTAAGAAGCACTATTTTACACTATAGTATTTGTTCAGCTATATCTTGTTAATCATTTTGTCATCCACCGACATTCCACCATCAGCTGCAATCCCTGAAATTGCCTTCATTGCTCTACTTGCTCTGAACGTAATTTAAAAGGCCTTTGGGACTCTCTAATACTTTTTGCAATGCTCTACTCATCAGGACGTCTCACGAGCCTTGTAGGTCTTTGGTGTTTGTCTT... | pathogenic | 39,984 |
Chromosome 2, position 73600721, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | CTAGAGATTCCAATTCATTATTCTGGGTTAGCCTCCCTCTGTCCTTATTAACGATGGAGATATTAACAATGAACAAGTTTAAGAAGCACTATTTTACACTATAGTATTTGTTCAGCTATATCTTGTTAATCATTTTGTCATCCACCGACATTCCACCATCAGCTGCAATCCCTGAAATTGCCTTCATTGCTCTACTTGCTCTGAACGTAATTTAAAAGGCCTTTGGGACTCTCTAATACTTTTTGCAATGCTCTACTCATCAGGACGTCTCACGAGCCTTGTAGGTCTTTGGTGTTTGTCTTAGTATACGTGTTTGAGTC... | CTAGAGATTCCAATTCATTATTCTGGGTTAGCCTCCCTCTGTCCTTATTAACGATGGAGATATTAACAATGAACAAGTTTAAGAAGCACTATTTTACACTATAGTATTTGTTCAGCTATATCTTGTTAATCATTTTGTCATCCACCGACATTCCACCATCAGCTGCAATCCCTGAAATTGCCTTCATTGCTCTACTTGCTCTGAACGTAATTTAAAAGGCCTTTGGGACTCTCTAATACTTTTTGCAATGCTCTACTCATCAGGACGTCTCACGAGCCTTGTAGGTCTTTGGTGTTTGTCTTAGTATACGTGTTTGAGTC... | pathogenic | 39,986 |
Variant in gene ALMS1 (ALMS1 centrosome and basal body associated protein), located at chromosome 2 position 73600772: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Alstrom_syndrome'] | CGATGGAGATATTAACAATGAACAAGTTTAAGAAGCACTATTTTACACTATAGTATTTGTTCAGCTATATCTTGTTAATCATTTTGTCATCCACCGACATTCCACCATCAGCTGCAATCCCTGAAATTGCCTTCATTGCTCTACTTGCTCTGAACGTAATTTAAAAGGCCTTTGGGACTCTCTAATACTTTTTGCAATGCTCTACTCATCAGGACGTCTCACGAGCCTTGTAGGTCTTTGGTGTTTGTCTTAGTATACGTGTTTGAGTCAGCTCTTAATTGGAGAGCGCTCTCTTCAGTTCATCACTCTTTTTAGCTATC... | CGATGGAGATATTAACAATGAACAAGTTTAAGAAGCACTATTTTACACTATAGTATTTGTTCAGCTATATCTTGTTAATCATTTTGTCATCCACCGACATTCCACCATCAGCTGCAATCCCTGAAATTGCCTTCATTGCTCTACTTGCTCTGAACGTAATTTAAAAGGCCTTTGGGACTCTCTAATACTTTTTGCAATGCTCTACTCATCAGGACGTCTCACGAGCCTTGTAGGTCTTTGGTGTTTGTCTTAGTATACGTGTTTGAGTCAGCTCTTAATTGGAGAGCGCTCTCTTCAGTTCATCACTCTTTTTAGCTATC... | pathogenic | 39,991 |
A genetic alteration at chromosome 2, position 73600814, in gene ALMS1 (ALMS1 centrosome and basal body associated protein)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Alstrom_syndrome'] | TTACACTATAGTATTTGTTCAGCTATATCTTGTTAATCATTTTGTCATCCACCGACATTCCACCATCAGCTGCAATCCCTGAAATTGCCTTCATTGCTCTACTTGCTCTGAACGTAATTTAAAAGGCCTTTGGGACTCTCTAATACTTTTTGCAATGCTCTACTCATCAGGACGTCTCACGAGCCTTGTAGGTCTTTGGTGTTTGTCTTAGTATACGTGTTTGAGTCAGCTCTTAATTGGAGAGCGCTCTCTTCAGTTCATCACTCTTTTTAGCTATCTCCAGGCCTCTTTATCTCACATGAAAATTATGTGCAGGTGTC... | TTACACTATAGTATTTGTTCAGCTATATCTTGTTAATCATTTTGTCATCCACCGACATTCCACCATCAGCTGCAATCCCTGAAATTGCCTTCATTGCTCTACTTGCTCTGAACGTAATTTAAAAGGCCTTTGGGACTCTCTAATACTTTTTGCAATGCTCTACTCATCAGGACGTCTCACGAGCCTTGTAGGTCTTTGGTGTTTGTCTTAGTATACGTGTTTGAGTCAGCTCTTAATTGGAGAGCGCTCTCTTCAGTTCATCACTCTTTTTAGCTATCTCCAGGCCTCTTTATCTCACATGAAAATTATGTGCAGGTGTC... | pathogenic | 39,994 |
A genetic alteration at chromosome 2, position 73601197, in gene ALMS1—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Alstrom_syndrome'] | TTTCCAAGCCCAGTGAAAATAGCCAGGCTTTTTTTTGTCTTACCACCTTATAACAGCTTAAGTCCTATCCACCTACAACATTCTCCCTATCACAGATACAAGGCAGCAAGTTCACAGTATCTCAAGCTTCCTCCAAATGCATCTCAACAGTTTGAATTGGATTAGAAAGAGGACTTGTTGGCTTGCTTATCCTGTGGATAACTGTGACATTGACTGCAGGTAATAATAACAAGATCTCTTTTATTTTTCTAGGTAGCAAACCATGTGATTTCTTCTGACTCTATTTCCTCTTCTGCCAGTAGTTTCCTGAGCTCAAACTC... | TTTCCAAGCCCAGTGAAAATAGCCAGGCTTTTTTTTGTCTTACCACCTTATAACAGCTTAAGTCCTATCCACCTACAACATTCTCCCTATCACAGATACAAGGCAGCAAGTTCACAGTATCTCAAGCTTCCTCCAAATGCATCTCAACAGTTTGAATTGGATTAGAAAGAGGACTTGTTGGCTTGCTTATCCTGTGGATAACTGTGACATTGACTGCAGGTAATAATAACAAGATCTCTTTTATTTTTCTAGGTAGCAAACCATGTGATTTCTTCTGACTCTATTTCCTCTTCTGCCAGTAGTTTCCTGAGCTCAAACTC... | pathogenic | 40,007 |
Does the genetic variant at chromosome 2, position 73601404, impacting gene ALMS1, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Alstrom_syndrome'] | CATTGACTGCAGGTAATAATAACAAGATCTCTTTTATTTTTCTAGGTAGCAAACCATGTGATTTCTTCTGACTCTATTTCCTCTTCTGCCAGTAGTTTCCTGAGCTCAAACTCTACTTTTTGCAACAAGCAGAATGTACACATGTTAAACAAGGGCATACAAGCAGGTAATTACTTGAATCTAAACTTTTTCATTGAAATACATTGAAATGGCTCTTAAACATGTAAGATACTCAACCTCAATCATAATAAAGGACATGAAGATAAAACTATATCCAACTGCCAATTTTCATCTTGTCAGATTGGCATAAATTCAAGTTT... | CATTGACTGCAGGTAATAATAACAAGATCTCTTTTATTTTTCTAGGTAGCAAACCATGTGATTTCTTCTGACTCTATTTCCTCTTCTGCCAGTAGTTTCCTGAGCTCAAACTCTACTTTTTGCAACAAGCAGAATGTACACATGTTAAACAAGGGCATACAAGCAGGTAATTACTTGAATCTAAACTTTTTCATTGAAATACATTGAAATGGCTCTTAAACATGTAAGATACTCAACCTCAATCATAATAAAGGACATGAAGATAAAACTATATCCAACTGCCAATTTTCATCTTGTCAGATTGGCATAAATTCAAGTTT... | pathogenic | 40,017 |
Variant at chromosome position 73602167, chromosome 2, gene ALMS1: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AATAAAAGAAAGAAAGGAGGGAAGAGAATTGCTTAAATGTGCAAAACGAATTCTCTGGAACCATATGGGGTTGTGAACAGAATAAATGGAGACCAGAAGTGGGAAGGAGGATTTTTAGCTATTGCCTTTCTATACCTTTTGGTTTCATAAAATAAAAATAAATAAACTTTCATCTTGATTTGTTTCTTCCCCTCAAATCCTGTCTTCTGTCAGCCTCTTCCTTACCTGCGTGACTACCAAAAGGACTCTTAAGTATTTATTGTCTTTCTAACTTGGGATCAGAGTTGAAATCCTTTACCCTTTGAACCCATATTCATTCT... | AATAAAAGAAAGAAAGGAGGGAAGAGAATTGCTTAAATGTGCAAAACGAATTCTCTGGAACCATATGGGGTTGTGAACAGAATAAATGGAGACCAGAAGTGGGAAGGAGGATTTTTAGCTATTGCCTTTCTATACCTTTTGGTTTCATAAAATAAAAATAAATAAACTTTCATCTTGATTTGTTTCTTCCCCTCAAATCCTGTCTTCTGTCAGCCTCTTCCTTACCTGCGTGACTACCAAAAGGACTCTTAAGTATTTATTGTCTTTCTAACTTGGGATCAGAGTTGAAATCCTTTACCCTTTGAACCCATATTCATTCT... | benign | 40,027 |
Variant in ALMS1, chromosome 2, position 73602167—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AATAAAAGAAAGAAAGGAGGGAAGAGAATTGCTTAAATGTGCAAAACGAATTCTCTGGAACCATATGGGGTTGTGAACAGAATAAATGGAGACCAGAAGTGGGAAGGAGGATTTTTAGCTATTGCCTTTCTATACCTTTTGGTTTCATAAAATAAAAATAAATAAACTTTCATCTTGATTTGTTTCTTCCCCTCAAATCCTGTCTTCTGTCAGCCTCTTCCTTACCTGCGTGACTACCAAAAGGACTCTTAAGTATTTATTGTCTTTCTAACTTGGGATCAGAGTTGAAATCCTTTACCCTTTGAACCCATATTCATTCT... | AATAAAAGAAAGAAAGGAGGGAAGAGAATTGCTTAAATGTGCAAAACGAATTCTCTGGAACCATATGGGGTTGTGAACAGAATAAATGGAGACCAGAAGTGGGAAGGAGGATTTTTAGCTATTGCCTTTCTATACCTTTTGGTTTCATAAAATAAAAATAAATAAACTTTCATCTTGATTTGTTTCTTCCCCTCAAATCCTGTCTTCTGTCAGCCTCTTCCTTACCTGCGTGACTACCAAAAGGACTCTTAAGTATTTATTGTCTTTCTAACTTGGGATCAGAGTTGAAATCCTTTACCCTTTGAACCCATATTCATTCT... | benign | 40,028 |
A mutation at chromosome position 73602218 on chromosome 2 in gene ALMS1: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | TCTCTGGAACCATATGGGGTTGTGAACAGAATAAATGGAGACCAGAAGTGGGAAGGAGGATTTTTAGCTATTGCCTTTCTATACCTTTTGGTTTCATAAAATAAAAATAAATAAACTTTCATCTTGATTTGTTTCTTCCCCTCAAATCCTGTCTTCTGTCAGCCTCTTCCTTACCTGCGTGACTACCAAAAGGACTCTTAAGTATTTATTGTCTTTCTAACTTGGGATCAGAGTTGAAATCCTTTACCCTTTGAACCCATATTCATTCTTCTTTCCCTCTCATACCTAAAATGAGTTACAAATAAAACCCTTTCTTTTTT... | TCTCTGGAACCATATGGGGTTGTGAACAGAATAAATGGAGACCAGAAGTGGGAAGGAGGATTTTTAGCTATTGCCTTTCTATACCTTTTGGTTTCATAAAATAAAAATAAATAAACTTTCATCTTGATTTGTTTCTTCCCCTCAAATCCTGTCTTCTGTCAGCCTCTTCCTTACCTGCGTGACTACCAAAAGGACTCTTAAGTATTTATTGTCTTTCTAACTTGGGATCAGAGTTGAAATCCTTTACCCTTTGAACCCATATTCATTCTTCTTTCCCTCTCATACCTAAAATGAGTTACAAATAAAACCCTTTCTTTTTT... | pathogenic | 40,033 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 73602219, gene ALMS1. What disease(s) is it linked to if pathogenic? | pathogenic; ['Alstrom_syndrome'] | CTCTGGAACCATATGGGGTTGTGAACAGAATAAATGGAGACCAGAAGTGGGAAGGAGGATTTTTAGCTATTGCCTTTCTATACCTTTTGGTTTCATAAAATAAAAATAAATAAACTTTCATCTTGATTTGTTTCTTCCCCTCAAATCCTGTCTTCTGTCAGCCTCTTCCTTACCTGCGTGACTACCAAAAGGACTCTTAAGTATTTATTGTCTTTCTAACTTGGGATCAGAGTTGAAATCCTTTACCCTTTGAACCCATATTCATTCTTCTTTCCCTCTCATACCTAAAATGAGTTACAAATAAAACCCTTTCTTTTTTC... | CTCTGGAACCATATGGGGTTGTGAACAGAATAAATGGAGACCAGAAGTGGGAAGGAGGATTTTTAGCTATTGCCTTTCTATACCTTTTGGTTTCATAAAATAAAAATAAATAAACTTTCATCTTGATTTGTTTCTTCCCCTCAAATCCTGTCTTCTGTCAGCCTCTTCCTTACCTGCGTGACTACCAAAAGGACTCTTAAGTATTTATTGTCTTTCTAACTTGGGATCAGAGTTGAAATCCTTTACCCTTTGAACCCATATTCATTCTTCTTTCCCTCTCATACCTAAAATGAGTTACAAATAAAACCCTTTCTTTTTTC... | pathogenic | 40,034 |
Chromosome 2, position 73602245, gene ALMS1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | AGAATAAATGGAGACCAGAAGTGGGAAGGAGGATTTTTAGCTATTGCCTTTCTATACCTTTTGGTTTCATAAAATAAAAATAAATAAACTTTCATCTTGATTTGTTTCTTCCCCTCAAATCCTGTCTTCTGTCAGCCTCTTCCTTACCTGCGTGACTACCAAAAGGACTCTTAAGTATTTATTGTCTTTCTAACTTGGGATCAGAGTTGAAATCCTTTACCCTTTGAACCCATATTCATTCTTCTTTCCCTCTCATACCTAAAATGAGTTACAAATAAAACCCTTTCTTTTTTCTTTGCCCTCTTTTTCCCTCCTACTCT... | AGAATAAATGGAGACCAGAAGTGGGAAGGAGGATTTTTAGCTATTGCCTTTCTATACCTTTTGGTTTCATAAAATAAAAATAAATAAACTTTCATCTTGATTTGTTTCTTCCCCTCAAATCCTGTCTTCTGTCAGCCTCTTCCTTACCTGCGTGACTACCAAAAGGACTCTTAAGTATTTATTGTCTTTCTAACTTGGGATCAGAGTTGAAATCCTTTACCCTTTGAACCCATATTCATTCTTCTTTCCCTCTCATACCTAAAATGAGTTACAAATAAAACCCTTTCTTTTTTCTTTGCCCTCTTTTTCCCTCCTACTCT... | pathogenic | 40,038 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 73603263, gene ALMS1 (ALMS1 centrosome and basal body associated protein). What disease(s) is it linked to if pathogenic? | pathogenic; ['Alstrom_syndrome'] | GTGGAAAATGTGGAGTCTAGATCAAAGAAGGAAAACGTGCCTAACACTTGTGGCCCTGGCATCTCCTGGTTTGAACCAATAACCAAGACCAGACCCTGGAGGGAGCCACTGCGGGAGCAGAACTGTCAGGGGCAGCACCTGGACGGTCGGGGCTACCTGGCAGGCCCAGGCAGAGAGGCTGGCAGAGACCTACTGAGGCCATTTGTGAGAGCAACCCTTCAGGTGCAGTGACGTTGACTTAACTTTAATGCTACGTGTAGGGAGAAGAAGGGCAAGGCGCAGAGAAGCTGGCTCTGTGACTTGGTGAGCTGAGGTGTAGG... | GTGGAAAATGTGGAGTCTAGATCAAAGAAGGAAAACGTGCCTAACACTTGTGGCCCTGGCATCTCCTGGTTTGAACCAATAACCAAGACCAGACCCTGGAGGGAGCCACTGCGGGAGCAGAACTGTCAGGGGCAGCACCTGGACGGTCGGGGCTACCTGGCAGGCCCAGGCAGAGAGGCTGGCAGAGACCTACTGAGGCCATTTGTGAGAGCAACCCTTCAGGTGCAGTGACGTTGACTTAACTTTAATGCTACGTGTAGGGAGAAGAAGGGCAAGGCGCAGAGAAGCTGGCTCTGTGACTTGGTGAGCTGAGGTGTAGG... | pathogenic | 40,056 |
Variant in gene ALMS1 (ALMS1 centrosome and basal body associated protein), located at chromosome 2 position 73603318: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CTGGCATCTCCTGGTTTGAACCAATAACCAAGACCAGACCCTGGAGGGAGCCACTGCGGGAGCAGAACTGTCAGGGGCAGCACCTGGACGGTCGGGGCTACCTGGCAGGCCCAGGCAGAGAGGCTGGCAGAGACCTACTGAGGCCATTTGTGAGAGCAACCCTTCAGGTGCAGTGACGTTGACTTAACTTTAATGCTACGTGTAGGGAGAAGAAGGGCAAGGCGCAGAGAAGCTGGCTCTGTGACTTGGTGAGCTGAGGTGTAGGCCTGAGACGCTCTTTTCCAGCACCTCCGCAGTTCACCTGTTTTCACGCACGAGGG... | CTGGCATCTCCTGGTTTGAACCAATAACCAAGACCAGACCCTGGAGGGAGCCACTGCGGGAGCAGAACTGTCAGGGGCAGCACCTGGACGGTCGGGGCTACCTGGCAGGCCCAGGCAGAGAGGCTGGCAGAGACCTACTGAGGCCATTTGTGAGAGCAACCCTTCAGGTGCAGTGACGTTGACTTAACTTTAATGCTACGTGTAGGGAGAAGAAGGGCAAGGCGCAGAGAAGCTGGCTCTGTGACTTGGTGAGCTGAGGTGTAGGCCTGAGACGCTCTTTTCCAGCACCTCCGCAGTTCACCTGTTTTCACGCACGAGGG... | benign | 40,058 |
Does the variant impacting ALMS1 (ALMS1 centrosome and basal body associated protein) on chromosome 2, position 73603320, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GGCATCTCCTGGTTTGAACCAATAACCAAGACCAGACCCTGGAGGGAGCCACTGCGGGAGCAGAACTGTCAGGGGCAGCACCTGGACGGTCGGGGCTACCTGGCAGGCCCAGGCAGAGAGGCTGGCAGAGACCTACTGAGGCCATTTGTGAGAGCAACCCTTCAGGTGCAGTGACGTTGACTTAACTTTAATGCTACGTGTAGGGAGAAGAAGGGCAAGGCGCAGAGAAGCTGGCTCTGTGACTTGGTGAGCTGAGGTGTAGGCCTGAGACGCTCTTTTCCAGCACCTCCGCAGTTCACCTGTTTTCACGCACGAGGGTT... | GGCATCTCCTGGTTTGAACCAATAACCAAGACCAGACCCTGGAGGGAGCCACTGCGGGAGCAGAACTGTCAGGGGCAGCACCTGGACGGTCGGGGCTACCTGGCAGGCCCAGGCAGAGAGGCTGGCAGAGACCTACTGAGGCCATTTGTGAGAGCAACCCTTCAGGTGCAGTGACGTTGACTTAACTTTAATGCTACGTGTAGGGAGAAGAAGGGCAAGGCGCAGAGAAGCTGGCTCTGTGACTTGGTGAGCTGAGGTGTAGGCCTGAGACGCTCTTTTCCAGCACCTCCGCAGTTCACCTGTTTTCACGCACGAGGGTT... | benign | 40,060 |
A genetic variant on chromosome 2, position 73608582, affects the gene ALMS1 (ALMS1 centrosome and basal body associated protein). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GAGTGGATTTAGTGCCCATCTTCTGGAGAGACTTTTTAAACTGTTTTTAAACTGGTACATTTTCATTAGGTTGCTTCTGTTCATGTTTATTTCTTGTGTGGCCTCTTTTCAAGGGAGTGATCTGTTTCCATCTGAGAATCTTCAATATCATCTAGTAACTCTTAATATTTAGGAAACTACAACCCAGAGAGGGGAAGTAACCCAGCAAGTTAGGGTCACAGCTGGAGTTAGAGCCTGGTGTTTGGCCTTCAATTGTGTCCTATTAAGGATTTGTGTCTCTGGAGCCTGTGTTACTCATCTTTTGTTATCACCTATCTCTA... | GAGTGGATTTAGTGCCCATCTTCTGGAGAGACTTTTTAAACTGTTTTTAAACTGGTACATTTTCATTAGGTTGCTTCTGTTCATGTTTATTTCTTGTGTGGCCTCTTTTCAAGGGAGTGATCTGTTTCCATCTGAGAATCTTCAATATCATCTAGTAACTCTTAATATTTAGGAAACTACAACCCAGAGAGGGGAAGTAACCCAGCAAGTTAGGGTCACAGCTGGAGTTAGAGCCTGGTGTTTGGCCTTCAATTGTGTCCTATTAAGGATTTGTGTCTCTGGAGCCTGTGTTACTCATCTTTTGTTATCACCTATCTCTA... | benign | 40,070 |
Variant chromosome 2, position 73849495, gene STAMBP (STAM binding protein): benign or pathogenic? Disease(s)? | benign | AAACAGAGGGTAGCACAACAGAAGCAGCAGCAATTGGAACAGGAACAGTTCCATGCCTTCGAGGAGATGATCCGGAACCAGGAGCTAGAAAAAGAGCGACTGAAAATTGTACAGGAGTTTGGGAAGGTAGACCCTGGCCTAGGTGGCCCGCTAGTGCCTGACTTGGAGAAGCCCTCCTTAGATGTGTTCCCCACCTTAACAGTCTCATCCATACAGCCTTCAGACTGTCACACAACTGTAAGGCCAGCTAAGCCACCTGTGGTGGACAGGTCCTTGAAACCTGGAGCACTGAGCAACTCAGAAAGTAGTAAGTGCATTTG... | AAACAGAGGGTAGCACAACAGAAGCAGCAGCAATTGGAACAGGAACAGTTCCATGCCTTCGAGGAGATGATCCGGAACCAGGAGCTAGAAAAAGAGCGACTGAAAATTGTACAGGAGTTTGGGAAGGTAGACCCTGGCCTAGGTGGCCCGCTAGTGCCTGACTTGGAGAAGCCCTCCTTAGATGTGTTCCCCACCTTAACAGTCTCATCCATACAGCCTTCAGACTGTCACACAACTGTAAGGCCAGCTAAGCCACCTGTGGTGGACAGGTCCTTGAAACCTGGAGCACTGAGCAACTCAGAAAGTAGTAAGTGCATTTG... | benign | 40,099 |
Considering the variant on chromosome 2, location 73946698, involving gene DGUOK (deoxyguanosine kinase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TTTGTTCTGTAGCTGAGATGGGTTCTTTCAGAAATTGTGTTGGTTTCTTTTACATTTTTGGTTCCAGAAGAGTCTCTCTTTGATAGCCCAAAGCCCACTGGTGCAATAGAACCCACCAGTCAACCTATTGCATCTGCCAGCACAGCACTCCGCTCCACATACAGTGTGTGAATTGTGCAACAGGCCCAGGGCTGCTCCCAACCATCTCTAGTGACACCACAGAGACTACAGGAGACACAAATTTGTCCTCCTACTTCTACCTCCAGCTCTTAGTCAGGGGCCACGTGTGAGGCTGGTATGTGTGGGCTTGCGGGGTCAGA... | TTTGTTCTGTAGCTGAGATGGGTTCTTTCAGAAATTGTGTTGGTTTCTTTTACATTTTTGGTTCCAGAAGAGTCTCTCTTTGATAGCCCAAAGCCCACTGGTGCAATAGAACCCACCAGTCAACCTATTGCATCTGCCAGCACAGCACTCCGCTCCACATACAGTGTGTGAATTGTGCAACAGGCCCAGGGCTGCTCCCAACCATCTCTAGTGACACCACAGAGACTACAGGAGACACAAATTTGTCCTCCTACTTCTACCTCCAGCTCTTAGTCAGGGGCCACGTGTGAGGCTGGTATGTGTGGGCTTGCGGGGTCAGA... | benign | 40,139 |
Is the genetic mutation found on chromosome 2 at position 73957118, within the gene DGUOK (deoxyguanosine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_3_(hepatocerebral_type)', 'Portal_hypertension,_noncirrhotic,_1', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_4'] | GACTTCTCAGGGAAATCCATTTGCTCTGTTAAGGAAATTAATAGTAAATAGAAATATGTTAGCTTATTTTAATAGATCAATGTTAGTGTCAAGGTTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAA... | GACTTCTCAGGGAAATCCATTTGCTCTGTTAAGGAAATTAATAGTAAATAGAAATATGTTAGCTTATTTTAATAGATCAATGTTAGTGTCAAGGTTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAA... | pathogenic | 40,154 |
A genetic variant on chromosome 2, position 73957134, affects the gene DGUOK (deoxyguanosine kinase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_3_(hepatocerebral_type)', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_4'] | CCATTTGCTCTGTTAAGGAAATTAATAGTAAATAGAAATATGTTAGCTTATTTTAATAGATCAATGTTAGTGTCAAGGTTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAG... | CCATTTGCTCTGTTAAGGAAATTAATAGTAAATAGAAATATGTTAGCTTATTTTAATAGATCAATGTTAGTGTCAAGGTTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAG... | pathogenic | 40,155 |
Clinical significance of chromosome 2, position 73957238, gene DGUOK (deoxyguanosine kinase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_3_(hepatocerebral_type)'] | TTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACT... | TTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACT... | pathogenic | 40,160 |
Evaluate if the mutation on chromosome 2 at position 73958199 in DGUOK is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['DGUOK-related_disorder', 'Mitochondrial_DNA_depletion_syndrome_3_(hepatocerebral_type)', 'Portal_hypertension,_noncirrhotic,_1', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_4'] | TCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATAT... | TCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATAT... | pathogenic | 40,162 |
Determine whether the variant at chromosome 2, position 74377630, in gene DCTN1 (dynactin subunit 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CTGGGGCCAGAACTCCATAAATATCAGACCATAGTTTCATGCTCTTCTCTATTCAAGGCCTGAGGTGAAATGGAAGCCCCAACCAGGAGACAATAATCAAAGGACAAAGCCAAGTTTCTATGACTCTGAAATGGGCCCAGGATCCTTCACAGCATTATTTTCCTTATATCCCCATTCCCTACCAAAGCAAGTACCAGCATGTGGTCTCTACCATGGCAAGACTCCAAAGGACCCATCACCAACCAGGAGCTGGTTTCCCCCTGGAAAAGGAGATGTTTTCCTCTTCCCTCCCACAGCCCCAATCCAGCAGCTCTCCATGC... | CTGGGGCCAGAACTCCATAAATATCAGACCATAGTTTCATGCTCTTCTCTATTCAAGGCCTGAGGTGAAATGGAAGCCCCAACCAGGAGACAATAATCAAAGGACAAAGCCAAGTTTCTATGACTCTGAAATGGGCCCAGGATCCTTCACAGCATTATTTTCCTTATATCCCCATTCCCTACCAAAGCAAGTACCAGCATGTGGTCTCTACCATGGCAAGACTCCAAAGGACCCATCACCAACCAGGAGCTGGTTTCCCCCTGGAAAAGGAGATGTTTTCCTCTTCCCTCCCACAGCCCCAATCCAGCAGCTCTCCATGC... | benign | 40,303 |
The chromosome 2, position 74377737 genetic variant in gene DCTN1 (dynactin subunit 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | AGCCAAGTTTCTATGACTCTGAAATGGGCCCAGGATCCTTCACAGCATTATTTTCCTTATATCCCCATTCCCTACCAAAGCAAGTACCAGCATGTGGTCTCTACCATGGCAAGACTCCAAAGGACCCATCACCAACCAGGAGCTGGTTTCCCCCTGGAAAAGGAGATGTTTTCCTCTTCCCTCCCACAGCCCCAATCCAGCAGCTCTCCATGCAATGTCAGAATGGCCTGAGATAGGCTGACGACAAGGAAATCACAGAATTGTACATACAGCACAGTACATACAGGCCAGACAGGCACATGCAGGTCAAAAACAGCTTG... | AGCCAAGTTTCTATGACTCTGAAATGGGCCCAGGATCCTTCACAGCATTATTTTCCTTATATCCCCATTCCCTACCAAAGCAAGTACCAGCATGTGGTCTCTACCATGGCAAGACTCCAAAGGACCCATCACCAACCAGGAGCTGGTTTCCCCCTGGAAAAGGAGATGTTTTCCTCTTCCCTCCCACAGCCCCAATCCAGCAGCTCTCCATGCAATGTCAGAATGGCCTGAGATAGGCTGACGACAAGGAAATCACAGAATTGTACATACAGCACAGTACATACAGGCCAGACAGGCACATGCAGGTCAAAAACAGCTTG... | benign | 40,305 |
Determine whether the variant at chromosome 2, position 74462538, in gene MOGS (mannosyl-oligosaccharide glucosidase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['MOGS-congenital_disorder_of_glycosylation'] | CGTTTAACTGGCGACTCCGGTATTGAGCTCTGCCCTTGTCCTGCCTCCGGTGAGGGTGAGCCAGTCAAGGAGGTGAGGGTTAGTGCCACCCTGCCAGATCTGGAGGACTACTCCCCGTGTGCACTACCCCCAGAGTCTGTACCGCAGATCTTTCCCATGGGGCTGTCTTCCAGTGAAGGGGACATCCCATAAGTAGTTTTGAGAGGGTGGATGGGTTACTTGCCCACCAGAAACAGCCCTAGTCCCAACTCCTTGCGTTCCTTTGGCCCCTCCCTGCCTACCTAGAATCTGCCTGAAAGGGCTGGAGAGGGGCAGTATTG... | CGTTTAACTGGCGACTCCGGTATTGAGCTCTGCCCTTGTCCTGCCTCCGGTGAGGGTGAGCCAGTCAAGGAGGTGAGGGTTAGTGCCACCCTGCCAGATCTGGAGGACTACTCCCCGTGTGCACTACCCCCAGAGTCTGTACCGCAGATCTTTCCCATGGGGCTGTCTTCCAGTGAAGGGGACATCCCATAAGTAGTTTTGAGAGGGTGGATGGGTTACTTGCCCACCAGAAACAGCCCTAGTCCCAACTCCTTGCGTTCCTTTGGCCCCTCCCTGCCTACCTAGAATCTGCCTGAAAGGGCTGGAGAGGGGCAGTATTG... | pathogenic | 40,332 |
Determine if the mutation at chromosome 2, position 74462906 in gene MOGS (mannosyl-oligosaccharide glucosidase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['MOGS-congenital_disorder_of_glycosylation', 'MOGS-related_disorder'] | ATCTCATTAAAGAGATGTGAACCAGCTACTTGTGGATTTGGGTGGACTAAAGCTCAACTCACTGCATTGCACTTGACCTGACTGGGTTTGAAGGGGACAGGTTATGGCCACTTGACCCCACCTTCCCTGAGGACAGCAGACAGTGCTGAGGCCTGGACTGACCTAAGGCCTCTTGGTGAGGCAAATCTGGCAAAAGCAATAGAGTTCAAAATGTTTTTTCCAATTTATTTAGAAAAATAGACTCTGGATTCACATTCACCCCAGGGCTATGTGGGATGACAGCAAGGAGACACCTGAGATGAAATGAGGAAGGTTTGAAT... | ATCTCATTAAAGAGATGTGAACCAGCTACTTGTGGATTTGGGTGGACTAAAGCTCAACTCACTGCATTGCACTTGACCTGACTGGGTTTGAAGGGGACAGGTTATGGCCACTTGACCCCACCTTCCCTGAGGACAGCAGACAGTGCTGAGGCCTGGACTGACCTAAGGCCTCTTGGTGAGGCAAATCTGGCAAAAGCAATAGAGTTCAAAATGTTTTTTCCAATTTATTTAGAAAAATAGACTCTGGATTCACATTCACCCCAGGGCTATGTGGGATGACAGCAAGGAGACACCTGAGATGAAATGAGGAAGGTTTGAAT... | pathogenic | 40,335 |
Is the genetic mutation found on chromosome 2 at position 74463319, within the gene MOGS (mannosyl-oligosaccharide glucosidase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['MOGS-congenital_disorder_of_glycosylation'] | CCCTTCAGTAGTCTTCAGCCATGGCCAGTAAGACAAGGCTGGTCCAGCCGTGGAAAGGGCGGCAGCCCATGCCTCGCCCATCGCGGTCACTGTACTGCTCCCAAAGAAAGCCTGTAGCCTGGTACTGGCGCCATACATTGCCTACCACGTTGGCACGGAGCTCACCGTGGAGTTTGGCAGCCCGAGCCTGGTGAGGACCCTCCAGATGCCCATAGTGGTGGAGTGCTCCCAAAGCCAGGTAGTTGACATTGAGCCACACAGCACCCCGCCAGTAGGGGGGATCATGCTCTGAATTGCGCTGGCCATAAAAGGAGCTGGAG... | CCCTTCAGTAGTCTTCAGCCATGGCCAGTAAGACAAGGCTGGTCCAGCCGTGGAAAGGGCGGCAGCCCATGCCTCGCCCATCGCGGTCACTGTACTGCTCCCAAAGAAAGCCTGTAGCCTGGTACTGGCGCCATACATTGCCTACCACGTTGGCACGGAGCTCACCGTGGAGTTTGGCAGCCCGAGCCTGGTGAGGACCCTCCAGATGCCCATAGTGGTGGAGTGCTCCCAAAGCCAGGTAGTTGACATTGAGCCACACAGCACCCCGCCAGTAGGGGGGATCATGCTCTGAATTGCGCTGGCCATAAAAGGAGCTGGAG... | pathogenic | 40,339 |
Does the chromosome 2 mutation at position 74530345 within gene HTRA2 (HtrA serine peptidase 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic | AGACCCAGGAGGCATCTGACACCGTCTGAGGGGAGGGCATGAGATGAGGCCTAAGCCAGGGCCAGGGATGGGAAATTTCCCCTTCAAGCCCCAGAGATTCCCTGTTCAACACACACTCACCACAGAGACCAGGGGTCTCTGAACTTGCAGGGTAAGAGGTTGTACCACATCTTGGATAGAAAATGGCCAGGAACTAGAAGAGGAAGGAGAAAGTAGGATGGGAATCCAGCCAGCCTAGTCAGCAGCTCACACCTGCCTTATAACAGGCAACTGTCAAACTCTACAAGCACATAATTGAAGAATGAAGGGATTCAGGAGAA... | AGACCCAGGAGGCATCTGACACCGTCTGAGGGGAGGGCATGAGATGAGGCCTAAGCCAGGGCCAGGGATGGGAAATTTCCCCTTCAAGCCCCAGAGATTCCCTGTTCAACACACACTCACCACAGAGACCAGGGGTCTCTGAACTTGCAGGGTAAGAGGTTGTACCACATCTTGGATAGAAAATGGCCAGGAACTAGAAGAGGAAGGAGAAAGTAGGATGGGAATCCAGCCAGCCTAGTCAGCAGCTCACACCTGCCTTATAACAGGCAACTGTCAAACTCTACAAGCACATAATTGAAGAATGAAGGGATTCAGGAGAA... | pathogenic | 40,357 |
Is the variant located on chromosome 2 at position 74530680, gene HTRA2, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['3-methylglutaconic_aciduria_type_8'] | CAGAAAGGAAATGAACTGGAGATGATGGGGTCTAAGGGCCGAAGAAAGTTGTAAAAACTCAAGGGCCCACAAGCTTGACCACCTACCCAGCTGGCGCCCCATACCTGTGCTAAACCCACCTGAAGCGCAGGAGCCCCTCCCGGCCATTGGTGGCCTCTTCCTCAGGGAATAGCAGCAGAGGAGTGGGGGGAAGCCTCGTGGAAGCACAGAATCTCTTGAGTGACTCCACCAACTCCCCCCGCCCATTCATCTCCATGAAGCCCCGAGACCAGCACACAAAGCTGGGGGGACTATTGAGTAGAGGCTGGGAACCAGGAGAA... | CAGAAAGGAAATGAACTGGAGATGATGGGGTCTAAGGGCCGAAGAAAGTTGTAAAAACTCAAGGGCCCACAAGCTTGACCACCTACCCAGCTGGCGCCCCATACCTGTGCTAAACCCACCTGAAGCGCAGGAGCCCCTCCCGGCCATTGGTGGCCTCTTCCTCAGGGAATAGCAGCAGAGGAGTGGGGGGAAGCCTCGTGGAAGCACAGAATCTCTTGAGTGACTCCACCAACTCCCCCCGCCCATTCATCTCCATGAAGCCCCGAGACCAGCACACAAAGCTGGGGGGACTATTGAGTAGAGGCTGGGAACCAGGAGAA... | pathogenic | 40,365 |
Evaluate if the mutation on chromosome 2 at position 84425610 in SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GTAATACAATGTGGTGAAAACATCTTAATTCAGGACATCTTCCACCTTGTTTTGGCTTCCAGTTGTACTGCAAGACCAGTGTCAGGCACATAGGCTGATTAATCAGTGGACAACAGAAGCAAACTGCTGCTGGGTTACATGTCTACGTGATCCATTCCACAGTTTTAGGAATTTTTTTTTTCTTTCATAGCATCTTCCTCTTTTCAAATTCCTTCAGAAACAGAAGAGAGAGAGAAGAGAGATGGAATGAATAAAGATAAAAGATCCAAATCACATTTAGGATCAAAATGATTTTGAAACCTATTATCTTTAGGATCCCC... | GTAATACAATGTGGTGAAAACATCTTAATTCAGGACATCTTCCACCTTGTTTTGGCTTCCAGTTGTACTGCAAGACCAGTGTCAGGCACATAGGCTGATTAATCAGTGGACAACAGAAGCAAACTGCTGCTGGGTTACATGTCTACGTGATCCATTCCACAGTTTTAGGAATTTTTTTTTTCTTTCATAGCATCTTCCTCTTTTCAAATTCCTTCAGAAACAGAAGAGAGAGAGAAGAGAGATGGAATGAATAAAGATAAAAGATCCAAATCACATTTAGGATCAAAATGATTTTGAAACCTATTATCTTTAGGATCCCC... | benign | 40,444 |
Is the variant located on chromosome 2 at position 84425612, gene SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AATACAATGTGGTGAAAACATCTTAATTCAGGACATCTTCCACCTTGTTTTGGCTTCCAGTTGTACTGCAAGACCAGTGTCAGGCACATAGGCTGATTAATCAGTGGACAACAGAAGCAAACTGCTGCTGGGTTACATGTCTACGTGATCCATTCCACAGTTTTAGGAATTTTTTTTTTCTTTCATAGCATCTTCCTCTTTTCAAATTCCTTCAGAAACAGAAGAGAGAGAGAAGAGAGATGGAATGAATAAAGATAAAAGATCCAAATCACATTTAGGATCAAAATGATTTTGAAACCTATTATCTTTAGGATCCCCTG... | AATACAATGTGGTGAAAACATCTTAATTCAGGACATCTTCCACCTTGTTTTGGCTTCCAGTTGTACTGCAAGACCAGTGTCAGGCACATAGGCTGATTAATCAGTGGACAACAGAAGCAAACTGCTGCTGGGTTACATGTCTACGTGATCCATTCCACAGTTTTAGGAATTTTTTTTTTCTTTCATAGCATCTTCCTCTTTTCAAATTCCTTCAGAAACAGAAGAGAGAGAGAAGAGAGATGGAATGAATAAAGATAAAAGATCCAAATCACATTTAGGATCAAAATGATTTTGAAACCTATTATCTTTAGGATCCCCTG... | benign | 40,445 |
Variant on chromosome 2, at position 84441231, affecting SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTTTTTTAAAAAAAAAAAAAAAGTCCTTTTTCAAAGGAATTAAAAGCAGTCTCCCAGACGACTGTCTCATCAATGGGTTATGACCATTCACAAAGGCAAGGTCTAAAGGACTTCCCTGAACTTCTCTTGATTTTCATTTTTTAGGTTTATGCTCACCTTAGAAAGCAGAGCAGTGATCAGAAAGGCAACTCAGCACAGAGCATTCCTTCCATGCTCACCTTAAGACCACAGCCTTCAAAACAGACCCAAGAATATAAGAAATATTCAAATATGTACAAGAGCATCAGTGATACATGGATCTGGCCCCACTGGAACTCAGA... | TTTTTTTAAAAAAAAAAAAAAAGTCCTTTTTCAAAGGAATTAAAAGCAGTCTCCCAGACGACTGTCTCATCAATGGGTTATGACCATTCACAAAGGCAAGGTCTAAAGGACTTCCCTGAACTTCTCTTGATTTTCATTTTTTAGGTTTATGCTCACCTTAGAAAGCAGAGCAGTGATCAGAAAGGCAACTCAGCACAGAGCATTCCTTCCATGCTCACCTTAAGACCACAGCCTTCAAAACAGACCCAAGAATATAAGAAATATTCAAATATGTACAAGAGCATCAGTGATACATGGATCTGGCCCCACTGGAACTCAGA... | benign | 40,456 |
Considering the genetic mutation at chromosome 2, position 84449762, impacting SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGATTATTTAGCTATCAGAATAAACATTTTTTTTTGAGACAGGGTCTCACTCTGTCACCCAAGCTGGAGTAAGTGGTTCAATCATGACTCACTGCAGCCTCAACCTCCTGGACTCAAGTGATCCTTCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCATGCACCACCACACCCAGCTAATTTTTCTGTTTTTTTTGTAGAGATGGAATCCCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCTAGCAATCCTGCTGCTCTGGCTCCCTAAAGTGCTAGGATTACAGGTGTGGGCTACCACATCCTGCCAT... | AGATTATTTAGCTATCAGAATAAACATTTTTTTTTGAGACAGGGTCTCACTCTGTCACCCAAGCTGGAGTAAGTGGTTCAATCATGACTCACTGCAGCCTCAACCTCCTGGACTCAAGTGATCCTTCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCATGCACCACCACACCCAGCTAATTTTTCTGTTTTTTTTGTAGAGATGGAATCCCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCTAGCAATCCTGCTGCTCTGGCTCCCTAAAGTGCTAGGATTACAGGTGTGGGCTACCACATCCTGCCAT... | benign | 40,465 |
Gene SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha) variant at chromosome position 84449762 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AGATTATTTAGCTATCAGAATAAACATTTTTTTTTGAGACAGGGTCTCACTCTGTCACCCAAGCTGGAGTAAGTGGTTCAATCATGACTCACTGCAGCCTCAACCTCCTGGACTCAAGTGATCCTTCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCATGCACCACCACACCCAGCTAATTTTTCTGTTTTTTTTGTAGAGATGGAATCCCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCTAGCAATCCTGCTGCTCTGGCTCCCTAAAGTGCTAGGATTACAGGTGTGGGCTACCACATCCTGCCAT... | AGATTATTTAGCTATCAGAATAAACATTTTTTTTTGAGACAGGGTCTCACTCTGTCACCCAAGCTGGAGTAAGTGGTTCAATCATGACTCACTGCAGCCTCAACCTCCTGGACTCAAGTGATCCTTCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCATGCACCACCACACCCAGCTAATTTTTCTGTTTTTTTTGTAGAGATGGAATCCCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCTAGCAATCCTGCTGCTCTGGCTCCCTAAAGTGCTAGGATTACAGGTGTGGGCTACCACATCCTGCCAT... | benign | 40,466 |
Gene SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha) variant at chromosome 2, position 84449762—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | AGATTATTTAGCTATCAGAATAAACATTTTTTTTTGAGACAGGGTCTCACTCTGTCACCCAAGCTGGAGTAAGTGGTTCAATCATGACTCACTGCAGCCTCAACCTCCTGGACTCAAGTGATCCTTCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCATGCACCACCACACCCAGCTAATTTTTCTGTTTTTTTTGTAGAGATGGAATCCCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCTAGCAATCCTGCTGCTCTGGCTCCCTAAAGTGCTAGGATTACAGGTGTGGGCTACCACATCCTGCCAT... | AGATTATTTAGCTATCAGAATAAACATTTTTTTTTGAGACAGGGTCTCACTCTGTCACCCAAGCTGGAGTAAGTGGTTCAATCATGACTCACTGCAGCCTCAACCTCCTGGACTCAAGTGATCCTTCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCATGCACCACCACACCCAGCTAATTTTTCTGTTTTTTTTGTAGAGATGGAATCCCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCTAGCAATCCTGCTGCTCTGGCTCCCTAAAGTGCTAGGATTACAGGTGTGGGCTACCACATCCTGCCAT... | benign | 40,467 |
Assess the variant on chromosome 2, position 85542382, impacting MAT2A (methionine adenosyltransferase 2A): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TCAGTTTACTGTGCCCATGATGAAATCCCACAAGTAACTTAGTGGTATGAGAGGACAAACCCAGGATCTTGATGAGTGCTGAAGGTTAGCTGTTACACCAGTTAGTAGTAGACCGAAGTTCAGAGCCTGCAGTCTGGCTTCCACATTATGTTTGGATTCTGTTTTAGGCGGTTATAGAAAATTCAGAAAAACGAACTTGAATTAGGGAGATATTTGTTCTCCCTCCTAACAATAGATGACAAAGCAGGGAGACATGGATTCGGAATACGTTTGAGCATCTTCTACACTGTTGAGCTTTTGTTTCCTGCGCAACTCCTAAC... | TCAGTTTACTGTGCCCATGATGAAATCCCACAAGTAACTTAGTGGTATGAGAGGACAAACCCAGGATCTTGATGAGTGCTGAAGGTTAGCTGTTACACCAGTTAGTAGTAGACCGAAGTTCAGAGCCTGCAGTCTGGCTTCCACATTATGTTTGGATTCTGTTTTAGGCGGTTATAGAAAATTCAGAAAAACGAACTTGAATTAGGGAGATATTTGTTCTCCCTCCTAACAATAGATGACAAAGCAGGGAGACATGGATTCGGAATACGTTTGAGCATCTTCTACACTGTTGAGCTTTTGTTTCCTGCGCAACTCCTAAC... | benign | 40,656 |
Benign or pathogenic: chromosome 2, position 85542759, gene MAT2A (methionine adenosyltransferase 2A) variant? Disease(s) if pathogenic? | benign | TCGAATTATCTTGTTGCTCATTATAATTGGTGTTCCTTAAGATTAGGGAAACTGGCCTACCTGTGGCCTCAGTTCTACCAGACTCCCAGGTGCAGAGGGGTTTGGTACAGTTGTGGAAGTGAATATGATATAGGGCAAATTCTGTTCTTTAAAGGATATAGGACTAACAGTTCACCTTTCTGGTGATTAGATTTATAATGCAAACTTTGAATTTTAGGAGGAAAGTGCAAACACAATGAATTAAGATGTATTAAGCATGTTTTTTAAAATCTCCAAAGATTTTACAGATAGTAACAGGGAGGGAGCTTGCATACATACAT... | TCGAATTATCTTGTTGCTCATTATAATTGGTGTTCCTTAAGATTAGGGAAACTGGCCTACCTGTGGCCTCAGTTCTACCAGACTCCCAGGTGCAGAGGGGTTTGGTACAGTTGTGGAAGTGAATATGATATAGGGCAAATTCTGTTCTTTAAAGGATATAGGACTAACAGTTCACCTTTCTGGTGATTAGATTTATAATGCAAACTTTGAATTTTAGGAGGAAAGTGCAAACACAATGAATTAAGATGTATTAAGCATGTTTTTTAAAATCTCCAAAGATTTTACAGATAGTAACAGGGAGGGAGCTTGCATACATACAT... | benign | 40,668 |
Variant chromosome 2, position 85542894, gene MAT2A (methionine adenosyltransferase 2A): benign or pathogenic? Disease(s)? | benign | CAAATTCTGTTCTTTAAAGGATATAGGACTAACAGTTCACCTTTCTGGTGATTAGATTTATAATGCAAACTTTGAATTTTAGGAGGAAAGTGCAAACACAATGAATTAAGATGTATTAAGCATGTTTTTTAAAATCTCCAAAGATTTTACAGATAGTAACAGGGAGGGAGCTTGCATACATACATACATACTTTGTTTAAAGTTAAAGAAACTGAGCCAGGAATTTCTCTTTTCCAGATAAGATTTGTGACCAAATCAGTGATGCTGTCCTTGATGCCCACCTTCAGCAGGATCCTGATGCCAAAGTAGCTTGTGGTAGG... | CAAATTCTGTTCTTTAAAGGATATAGGACTAACAGTTCACCTTTCTGGTGATTAGATTTATAATGCAAACTTTGAATTTTAGGAGGAAAGTGCAAACACAATGAATTAAGATGTATTAAGCATGTTTTTTAAAATCTCCAAAGATTTTACAGATAGTAACAGGGAGGGAGCTTGCATACATACATACATACTTTGTTTAAAGTTAAAGAAACTGAGCCAGGAATTTCTCTTTTCCAGATAAGATTTGTGACCAAATCAGTGATGCTGTCCTTGATGCCCACCTTCAGCAGGATCCTGATGCCAAAGTAGCTTGTGGTAGG... | benign | 40,672 |
Variant in SFTPB (surfactant protein B), chromosome 2, position 85663508—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AGCTGAGTTCTCATCAAAGGTCGGGGCTGTGGATACACTGGAGAGGGCTGGACATGGTCCCACACACCCCGAGGGCCTGTCACAGGGACAGCACCAGGGCTGAGGCCTGGGCCCCCTCAGCTCCCCACACCCAGCTCTTCCGGGAAAGAACAGCACTCACTCCACCTCCCGCCTAGTGGGTGCTACCAGTGTGACTCTGTAGACCCCTCGGGCCACTCCCTGAGCCACAGGCCTTAGGGTTTAGAGCCTGAGGAGGTGAGATGTTCACTCCAGAACACCCACTTTGTACCCCCACCCCACCAGCACACACTGGCCAGGGA... | AGCTGAGTTCTCATCAAAGGTCGGGGCTGTGGATACACTGGAGAGGGCTGGACATGGTCCCACACACCCCGAGGGCCTGTCACAGGGACAGCACCAGGGCTGAGGCCTGGGCCCCCTCAGCTCCCCACACCCAGCTCTTCCGGGAAAGAACAGCACTCACTCCACCTCCCGCCTAGTGGGTGCTACCAGTGTGACTCTGTAGACCCCTCGGGCCACTCCCTGAGCCACAGGCCTTAGGGTTTAGAGCCTGAGGAGGTGAGATGTTCACTCCAGAACACCCACTTTGTACCCCCACCCCACCAGCACACACTGGCCAGGGA... | benign | 40,738 |
A mutation at chromosome position 85666648 on chromosome 2 in gene SFTPB (surfactant protein B): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Surfactant_metabolism_dysfunction,_pulmonary,_1'] | GACTACAGGCACCTGTCACATCTGGCTAATTTTTGTATTCTTAGTAGAGACGGGGTTTCGCCATGTTGCCCAAGCTGGTCTTGAACTCCTGGGCTCAAGTGAACCACCTGCCTCAGCAGGAACCTCACCTGCTGCCTTGTGCCCCTGGTGGCCCACGCAACCCTATCTGGGAAAGGCTGAGGGGGCAGGGCCTTTCCTCATTTGGGCCCCAATTTGGGCAAGGTAGCCCTGGGCTGGCGGGGCCATTGGACAATAGCCACTGCAGGTCTGGAAGACTCCAAGTTGGACTCAGGCAAGGATGGGGAATCTATCTGTGGAAA... | GACTACAGGCACCTGTCACATCTGGCTAATTTTTGTATTCTTAGTAGAGACGGGGTTTCGCCATGTTGCCCAAGCTGGTCTTGAACTCCTGGGCTCAAGTGAACCACCTGCCTCAGCAGGAACCTCACCTGCTGCCTTGTGCCCCTGGTGGCCCACGCAACCCTATCTGGGAAAGGCTGAGGGGGCAGGGCCTTTCCTCATTTGGGCCCCAATTTGGGCAAGGTAGCCCTGGGCTGGCGGGGCCATTGGACAATAGCCACTGCAGGTCTGGAAGACTCCAAGTTGGACTCAGGCAAGGATGGGGAATCTATCTGTGGAAA... | pathogenic | 40,753 |
Is chromosome 2, position 85666649, gene SFTPB (surfactant protein B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_pulmonary_alveolar_proteinosis', 'SFTPB-related_disorder', 'Surfactant_metabolism_dysfunction,_pulmonary,_1'] | ACTACAGGCACCTGTCACATCTGGCTAATTTTTGTATTCTTAGTAGAGACGGGGTTTCGCCATGTTGCCCAAGCTGGTCTTGAACTCCTGGGCTCAAGTGAACCACCTGCCTCAGCAGGAACCTCACCTGCTGCCTTGTGCCCCTGGTGGCCCACGCAACCCTATCTGGGAAAGGCTGAGGGGGCAGGGCCTTTCCTCATTTGGGCCCCAATTTGGGCAAGGTAGCCCTGGGCTGGCGGGGCCATTGGACAATAGCCACTGCAGGTCTGGAAGACTCCAAGTTGGACTCAGGCAAGGATGGGGAATCTATCTGTGGAAAT... | ACTACAGGCACCTGTCACATCTGGCTAATTTTTGTATTCTTAGTAGAGACGGGGTTTCGCCATGTTGCCCAAGCTGGTCTTGAACTCCTGGGCTCAAGTGAACCACCTGCCTCAGCAGGAACCTCACCTGCTGCCTTGTGCCCCTGGTGGCCCACGCAACCCTATCTGGGAAAGGCTGAGGGGGCAGGGCCTTTCCTCATTTGGGCCCCAATTTGGGCAAGGTAGCCCTGGGCTGGCGGGGCCATTGGACAATAGCCACTGCAGGTCTGGAAGACTCCAAGTTGGACTCAGGCAAGGATGGGGAATCTATCTGTGGAAAT... | pathogenic | 40,754 |
The mutation in gene SFTPB (surfactant protein B) at chromosome 2, position 85666743—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['SFTPB-related_disorder'] | CAAGTGAACCACCTGCCTCAGCAGGAACCTCACCTGCTGCCTTGTGCCCCTGGTGGCCCACGCAACCCTATCTGGGAAAGGCTGAGGGGGCAGGGCCTTTCCTCATTTGGGCCCCAATTTGGGCAAGGTAGCCCTGGGCTGGCGGGGCCATTGGACAATAGCCACTGCAGGTCTGGAAGACTCCAAGTTGGACTCAGGCAAGGATGGGGAATCTATCTGTGGAAATTCCCCTCTTGAAAGATCAAAGCAACCTTTCTACAGAGACCTCTGGGGATCTTTCTCCATCAGATGGTGAGCTGCTGGAGGACAAAGCTGCGTCT... | CAAGTGAACCACCTGCCTCAGCAGGAACCTCACCTGCTGCCTTGTGCCCCTGGTGGCCCACGCAACCCTATCTGGGAAAGGCTGAGGGGGCAGGGCCTTTCCTCATTTGGGCCCCAATTTGGGCAAGGTAGCCCTGGGCTGGCGGGGCCATTGGACAATAGCCACTGCAGGTCTGGAAGACTCCAAGTTGGACTCAGGCAAGGATGGGGAATCTATCTGTGGAAATTCCCCTCTTGAAAGATCAAAGCAACCTTTCTACAGAGACCTCTGGGGATCTTTCTCCATCAGATGGTGAGCTGCTGGAGGACAAAGCTGCGTCT... | pathogenic | 40,758 |
Is chromosome 2, position 85846386, gene ST3GAL5 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['GM3_synthase_deficiency'] | TTTGTACACATCGCCCCTCAAACAGGGAATGATTAACTTTGAGTAGCAACAAAAATACCTTATCTCGGCCCCAGAACCTTGACTGAGGCTCTGAGTACTGAAGGATGTCAAAGGCAGTCTCTTTGATGATAACTGGATTCAAAATCCTGAAATGTTTTGGCTGCAGTGGGATTTTTTCTGCCACCTGCTTCCAAAAGAAGAGTCGTACCCAGAATGGCTAAGGAAAGCAAGCAAGCAGTTGTTAGTCATCCTTCTAGGGGAGGGGAGAAAGCATTCCCACTCATCAGACCAAGGCTGTGGGTGTGACCCCATGTGGCCCT... | TTTGTACACATCGCCCCTCAAACAGGGAATGATTAACTTTGAGTAGCAACAAAAATACCTTATCTCGGCCCCAGAACCTTGACTGAGGCTCTGAGTACTGAAGGATGTCAAAGGCAGTCTCTTTGATGATAACTGGATTCAAAATCCTGAAATGTTTTGGCTGCAGTGGGATTTTTTCTGCCACCTGCTTCCAAAAGAAGAGTCGTACCCAGAATGGCTAAGGAAAGCAAGCAAGCAGTTGTTAGTCATCCTTCTAGGGGAGGGGAGAAAGCATTCCCACTCATCAGACCAAGGCTGTGGGTGTGACCCCATGTGGCCCT... | pathogenic | 40,778 |
Is chromosome 2, position 85846431, gene ST3GAL5 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['GM3_synthase_deficiency'] | GCAACAAAAATACCTTATCTCGGCCCCAGAACCTTGACTGAGGCTCTGAGTACTGAAGGATGTCAAAGGCAGTCTCTTTGATGATAACTGGATTCAAAATCCTGAAATGTTTTGGCTGCAGTGGGATTTTTTCTGCCACCTGCTTCCAAAAGAAGAGTCGTACCCAGAATGGCTAAGGAAAGCAAGCAAGCAGTTGTTAGTCATCCTTCTAGGGGAGGGGAGAAAGCATTCCCACTCATCAGACCAAGGCTGTGGGTGTGACCCCATGTGGCCCTGTGCACTGCCTTCTGAAGCAATCTACTCCTATAGATTGCAAAAGC... | GCAACAAAAATACCTTATCTCGGCCCCAGAACCTTGACTGAGGCTCTGAGTACTGAAGGATGTCAAAGGCAGTCTCTTTGATGATAACTGGATTCAAAATCCTGAAATGTTTTGGCTGCAGTGGGATTTTTTCTGCCACCTGCTTCCAAAAGAAGAGTCGTACCCAGAATGGCTAAGGAAAGCAAGCAAGCAGTTGTTAGTCATCCTTCTAGGGGAGGGGAGAAAGCATTCCCACTCATCAGACCAAGGCTGTGGGTGTGACCCCATGTGGCCCTGTGCACTGCCTTCTGAAGCAATCTACTCCTATAGATTGCAAAAGC... | pathogenic | 40,779 |
Is the genetic mutation found on chromosome 2 at position 85848169, within the gene ST3GAL5 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['GM3_synthase_deficiency'] | GGGATGCGGAGGCTGCAGAGAGCCAAGACTGCACCACTGCACTCCAGCCCTCTAGCCTGGACAACAGAATGAGACTCCATCCCCAAAAAAAAGAATTGCTGAGGGGTTTCTACAAAGAGAGTGATCATCATTTGAAAGACAACACATAAGTATGCATTCCGCTCTGCGTGTTTAAAAATAAAAGGCTATAATTACAACTAAGTAAGACTCCTTCACTTTTTACTAAGGCAGATTTAATAGAAGTATTAGTGCTTACCAGGGTTTCCTTTTTTACCATTGCTTGAAGCCAGTTGAAATCAACACTCTTAAATAAAACAGCA... | GGGATGCGGAGGCTGCAGAGAGCCAAGACTGCACCACTGCACTCCAGCCCTCTAGCCTGGACAACAGAATGAGACTCCATCCCCAAAAAAAAGAATTGCTGAGGGGTTTCTACAAAGAGAGTGATCATCATTTGAAAGACAACACATAAGTATGCATTCCGCTCTGCGTGTTTAAAAATAAAAGGCTATAATTACAACTAAGTAAGACTCCTTCACTTTTTACTAAGGCAGATTTAATAGAAGTATTAGTGCTTACCAGGGTTTCCTTTTTTACCATTGCTTGAAGCCAGTTGAAATCAACACTCTTAAATAAAACAGCA... | pathogenic | 40,784 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 85861216, gene ST3GAL5 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5): what disease(s) if pathogenic? | pathogenic; ['GM3_synthase_deficiency'] | GAGCGCACCTCTCTCCTCAGCTGACCCAGACTTTAGAACAATCACTTTACAGTTGGTCAGATGGTAATGGACAGGAAAAAGAGGATGCAAAGAGAAAGTGGAGAAGGGCAGCAGAGAAACAAAGGGAAGAGTTCCCAGTCCATCAGTAAGCCATACCAAGTGCCATCATTTAAAGACTTTCTCAGAAGACAAAAACAGAGACAGGATGTCTAAAACCTTTATCCAAGAGAGCTGTGAAGCGCCGTGGAATTGCAAAGGACTGGGGGAGGTATGTCTGCAAGGCCAGACAGTCCAGGAAGAAAGGGAAGCCTGAGCAGAGG... | GAGCGCACCTCTCTCCTCAGCTGACCCAGACTTTAGAACAATCACTTTACAGTTGGTCAGATGGTAATGGACAGGAAAAAGAGGATGCAAAGAGAAAGTGGAGAAGGGCAGCAGAGAAACAAAGGGAAGAGTTCCCAGTCCATCAGTAAGCCATACCAAGTGCCATCATTTAAAGACTTTCTCAGAAGACAAAAACAGAGACAGGATGTCTAAAACCTTTATCCAAGAGAGCTGTGAAGCGCCGTGGAATTGCAAAGGACTGGGGGAGGTATGTCTGCAAGGCCAGACAGTCCAGGAAGAAAGGGAAGCCTGAGCAGAGG... | pathogenic | 40,790 |
Is the variant located on chromosome 2 at position 86077809, gene POLR1A (RNA polymerase I subunit A), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAATTTTTTCACCCAGTCTAAAACTTCATTTTCTTATCTGCCAATAAATTCAAAGTTCCCAAAGGTGGCATGGGGCACTTCCTTGAGACAGGTGGCAAATGCCTGTCCTCAAATACCCTGACATCCCTCATCTACCCTGGCAGACATCACTAATGCATCATGGTGCTGTCCCTGAGCCCAGACATGGCATCGGAATATCTCAACTCCACAGTTCTGGCAGCCATTACAATCAAGGTGGTACTTGAGATGAAACTGACGCATTCCTCTGATACCT... | GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCAATTTTTTCACCCAGTCTAAAACTTCATTTTCTTATCTGCCAATAAATTCAAAGTTCCCAAAGGTGGCATGGGGCACTTCCTTGAGACAGGTGGCAAATGCCTGTCCTCAAATACCCTGACATCCCTCATCTACCCTGGCAGACATCACTAATGCATCATGGTGCTGTCCCTGAGCCCAGACATGGCATCGGAATATCTCAACTCCACAGTTCTGGCAGCCATTACAATCAAGGTGGTACTTGAGATGAAACTGACGCATTCCTCTGATACCT... | benign | 40,833 |
Gene REEP1 (receptor accessory protein 1) variant at chromosome 2, position 86214211—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TCCTCTGTTGTTAGTAAAATTATGAAATTGAAGTTCTGCAGCATGTCAGGCCAGGATTATTAGGGAGATTCCTCGAAACTAGTGTGTGTTTATTAAAAGGAGAAAGGATAACAATAGAATGTTCTAAAACCAGAAGTCCAAGTGCGTGTCTACTTATGGGACCAATAAATAAAGAACAGACATTTGATTTGAGGTGAGGTAAAAGCCTGAAACATGGAATGGCATTCTGTTTTGATGGATTTTCATTTCTTCGCACTTCTGAGACGGCAAAGCCAACCACTTAGAAGCCTTCCACATCTTTGTCACCTGCCTGGCTCCTG... | TCCTCTGTTGTTAGTAAAATTATGAAATTGAAGTTCTGCAGCATGTCAGGCCAGGATTATTAGGGAGATTCCTCGAAACTAGTGTGTGTTTATTAAAAGGAGAAAGGATAACAATAGAATGTTCTAAAACCAGAAGTCCAAGTGCGTGTCTACTTATGGGACCAATAAATAAAGAACAGACATTTGATTTGAGGTGAGGTAAAAGCCTGAAACATGGAATGGCATTCTGTTTTGATGGATTTTCATTTCTTCGCACTTCTGAGACGGCAAAGCCAACCACTTAGAAGCCTTCCACATCTTTGTCACCTGCCTGGCTCCTG... | benign | 40,858 |
A genetic alteration at chromosome 2, position 86214989, in gene REEP1 (receptor accessory protein 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | ATATCTACAAAACTGGGTACATACATACTGTCTAACTGCTAATCCACATTTCCAGTCTTACAAAGGACATAATGATTAGTTAAGCCCTAATTTAGATTTGAGGAAACTGAAGCTGAGAGAGGGTTAAGTAAATTACCCAAAGTACAGCTAATAAGACCCAGAATCTCAGTCTCACTCCTTGGGATCCTGTGTATTTCCCTGAGTCTTCTAACATATGAAAATTCATATCTAAATCAACAAGTGACTGTAATCTGGTACTATAAATACTAAATAAACACTTCTTCATAACACTGTACCAATTCAGCTTTTAAATTTTATTA... | ATATCTACAAAACTGGGTACATACATACTGTCTAACTGCTAATCCACATTTCCAGTCTTACAAAGGACATAATGATTAGTTAAGCCCTAATTTAGATTTGAGGAAACTGAAGCTGAGAGAGGGTTAAGTAAATTACCCAAAGTACAGCTAATAAGACCCAGAATCTCAGTCTCACTCCTTGGGATCCTGTGTATTTCCCTGAGTCTTCTAACATATGAAAATTCATATCTAAATCAACAAGTGACTGTAATCTGGTACTATAAATACTAAATAAACACTTCTTCATAACACTGTACCAATTCAGCTTTTAAATTTTATTA... | benign | 40,864 |
Gene REEP1 (receptor accessory protein 1) variant at chromosome position 86216873 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AATACAGCATGTCTGAGAATAGAGCGCTTCAAACTTTTTTTGGCATAGTTAAGTGCAAACTTGATAACCTGTACTTGTCACAACTCTCCATTGTAAAATGGCGAAAATATAGGTTGTTCACGATAGGATTTTAAACTGCTGCTAAAGGCAATTTATTGTTTCGGCAAAAAAAAAAAAATTGCTAAGAAGCTGTGTAAGCTTTTTTTTTTTTTTTTTTTTTTTGCATTCGTTTCTGATAATTCTGGGTACTTCCAACTAACAGGTAAATACATTTTAAAGAGTATATTCTTCTTCTGTCTGGAACTACTCAATGAGCACAA... | AATACAGCATGTCTGAGAATAGAGCGCTTCAAACTTTTTTTGGCATAGTTAAGTGCAAACTTGATAACCTGTACTTGTCACAACTCTCCATTGTAAAATGGCGAAAATATAGGTTGTTCACGATAGGATTTTAAACTGCTGCTAAAGGCAATTTATTGTTTCGGCAAAAAAAAAAAAATTGCTAAGAAGCTGTGTAAGCTTTTTTTTTTTTTTTTTTTTTTTGCATTCGTTTCTGATAATTCTGGGTACTTCCAACTAACAGGTAAATACATTTTAAAGAGTATATTCTTCTTCTGTCTGGAACTACTCAATGAGCACAA... | benign | 40,873 |
Chromosome 2, position 86217124, gene REEP1 (receptor accessory protein 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCAACTAACAGGTAAATACATTTTAAAGAGTATATTCTTCTTCTGTCTGGAACTACTCAATGAGCACAAAGAAAACATTTTCTGTCTTCCTTAACAGATTTAGGTATTGGTGGGTGTGGGGCACAGAACATGAGCAAACAGCTTCTGTTTATCCTCTCAGCCACAAATTCGCTTTTAGGTATATTTTCCTATACCCTTTTGCAAATTACAAAATCACCTTCAGAGGAACTATGGGTAGATGGGATTCCAATATGCATATCTGGCAACAATCAGCTTCAAATCAAACCCTTTCTGGGGTGGCTAAGATCCAGCTAATGTGT... | CCAACTAACAGGTAAATACATTTTAAAGAGTATATTCTTCTTCTGTCTGGAACTACTCAATGAGCACAAAGAAAACATTTTCTGTCTTCCTTAACAGATTTAGGTATTGGTGGGTGTGGGGCACAGAACATGAGCAAACAGCTTCTGTTTATCCTCTCAGCCACAAATTCGCTTTTAGGTATATTTTCCTATACCCTTTTGCAAATTACAAAATCACCTTCAGAGGAACTATGGGTAGATGGGATTCCAATATGCATATCTGGCAACAATCAGCTTCAAATCAAACCCTTTCTGGGGTGGCTAAGATCCAGCTAATGTGT... | benign | 40,874 |
Assess the variant on chromosome 2, position 86232666, impacting REEP1 (receptor accessory protein 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_spastic_paraplegia_31'] | CCTTCTCAGGAGAGACAAATTACAAAAAGAACAATGATAACAGCTACTATGCACTGGCGCCAGGCATGGCCATAAGCACTTTCACATGGCTGGTTTCATTTGAAGCCTCACAACAACTCTACAAAGGGGTGTCATTCCTTGTGTAGATAAGAAATCTAGGGTGCAGAGATGGTAAATAGCTCGCCCGGGTCATGCGGCGAGCAAGTGGCTACCCCCTTCGAACTTCACCCCACTGGTTCTTGCTCTCTGCCCTCTGGGTTTTACTGAATTGAGGCCCCTTTTCCATCTAAGGGGCAGCTTTCATCTGAGGCTTGGTAGAT... | CCTTCTCAGGAGAGACAAATTACAAAAAGAACAATGATAACAGCTACTATGCACTGGCGCCAGGCATGGCCATAAGCACTTTCACATGGCTGGTTTCATTTGAAGCCTCACAACAACTCTACAAAGGGGTGTCATTCCTTGTGTAGATAAGAAATCTAGGGTGCAGAGATGGTAAATAGCTCGCCCGGGTCATGCGGCGAGCAAGTGGCTACCCCCTTCGAACTTCACCCCACTGGTTCTTGCTCTCTGCCCTCTGGGTTTTACTGAATTGAGGCCCCTTTTCCATCTAAGGGGCAGCTTTCATCTGAGGCTTGGTAGAT... | pathogenic | 40,880 |
Clinically, how would you classify the variant at chromosome 2, position 86232707, gene REEP1 (receptor accessory protein 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_31'] | AGCTACTATGCACTGGCGCCAGGCATGGCCATAAGCACTTTCACATGGCTGGTTTCATTTGAAGCCTCACAACAACTCTACAAAGGGGTGTCATTCCTTGTGTAGATAAGAAATCTAGGGTGCAGAGATGGTAAATAGCTCGCCCGGGTCATGCGGCGAGCAAGTGGCTACCCCCTTCGAACTTCACCCCACTGGTTCTTGCTCTCTGCCCTCTGGGTTTTACTGAATTGAGGCCCCTTTTCCATCTAAGGGGCAGCTTTCATCTGAGGCTTGGTAGATGATGAGCTGATGCAGTGTGGAGATGAGACTTAACTCTGTTT... | AGCTACTATGCACTGGCGCCAGGCATGGCCATAAGCACTTTCACATGGCTGGTTTCATTTGAAGCCTCACAACAACTCTACAAAGGGGTGTCATTCCTTGTGTAGATAAGAAATCTAGGGTGCAGAGATGGTAAATAGCTCGCCCGGGTCATGCGGCGAGCAAGTGGCTACCCCCTTCGAACTTCACCCCACTGGTTCTTGCTCTCTGCCCTCTGGGTTTTACTGAATTGAGGCCCCTTTTCCATCTAAGGGGCAGCTTTCATCTGAGGCTTGGTAGATGATGAGCTGATGCAGTGTGGAGATGAGACTTAACTCTGTTT... | pathogenic | 40,883 |
Determine whether the variant at chromosome 2, position 86254743, in gene REEP1 (receptor accessory protein 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_31'] | TTCTAAAATCAAATATCACCCCATTTGTATATCGATGGGAGGGATTACAAAGCTGAAAGAAATGAGTATTACTGGATAAGGGAGATTGTTTTACACATATTCAAATAAAATCAGAAATTAGAAGTCATCCAGTGTCATGCAACAAGGTAAAGGTGAGATGGAAAACAGGATTGAGGTCTTCTTCAGGGACCAAAGCCAAGTACAATATTGGTTTAGTTCAAATTTGGATTAACTTTGGTGTATTATTTTTGTTTGTTTGGGAGTGTTTTGTTGTTGTCATTGTTTTAAGAAAATGGCTGTTTGTCGGCCGGGTGCAGTGG... | TTCTAAAATCAAATATCACCCCATTTGTATATCGATGGGAGGGATTACAAAGCTGAAAGAAATGAGTATTACTGGATAAGGGAGATTGTTTTACACATATTCAAATAAAATCAGAAATTAGAAGTCATCCAGTGTCATGCAACAAGGTAAAGGTGAGATGGAAAACAGGATTGAGGTCTTCTTCAGGGACCAAAGCCAAGTACAATATTGGTTTAGTTCAAATTTGGATTAACTTTGGTGTATTATTTTTGTTTGTTTGGGAGTGTTTTGTTGTTGTCATTGTTTTAAGAAAATGGCTGTTTGTCGGCCGGGTGCAGTGG... | pathogenic | 40,902 |
Considering the genetic mutation at chromosome 2, position 86337544, impacting REEP1 (receptor accessory protein 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CCCTGAGACACCTCCCAAATATATGCCTCTCCTCTCCACCCCCATCAGTTGCTCATTGTAAAAAAGGGGGAGGAGCCGGGCGTGGTAGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAAGCGGGCGGATCACTAGGTCAGGAGTTCAAGACCAGGCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGCGCTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTTCAGTGAGCCGAGACTGTGCCACTGCAC... | CCCTGAGACACCTCCCAAATATATGCCTCTCCTCTCCACCCCCATCAGTTGCTCATTGTAAAAAAGGGGGAGGAGCCGGGCGTGGTAGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAAGCGGGCGGATCACTAGGTCAGGAGTTCAAGACCAGGCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGCGCTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTTCAGTGAGCCGAGACTGTGCCACTGCAC... | benign | 40,929 |
Mutation found at chromosome 2 position 88448578, gene FOXI3 (forkhead box I3): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GCACTTCAGCCTGGTTAAGAGAGGCAGACCGTCTCAAAAAACAAAACAAACAAAACAAAACAACAACAACAAAAAACCCACACACACACACAAAAGCTATTTTTAATAAAATTCTAATAATACTTTGTTAGAAAAGGAAACATCCAGGATATAAGCTAAAAGGGAGAGGATGCCAGGCTAACCATTACAAACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCAT... | GCACTTCAGCCTGGTTAAGAGAGGCAGACCGTCTCAAAAAACAAAACAAACAAAACAAAACAACAACAACAAAAAACCCACACACACACACAAAAGCTATTTTTAATAAAATTCTAATAATACTTTGTTAGAAAAGGAAACATCCAGGATATAAGCTAAAAGGGAGAGGATGCCAGGCTAACCATTACAAACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCAT... | benign | 40,949 |
A mutation at chromosome position 88452181 on chromosome 2 in gene FOXI3 (forkhead box I3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TAAAAGACTCAGCATTCTTGCTGGGCGCTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCGAAACGGGTGGGTCACTTGAAGCTTAGCAGTTCGAGACCAGCCTGGATAACATGGGAAAAGCCCATCTCTACATAAAATACAAATTAGCCGGGCACTGTGGCATGCTCCCGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGCAAAATTGTTTGAGCTGGTGAGGCAGAGGTTGCAGTGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGGAGTGAAATTGTCTCAAAAAAAAAAAAAAAAAACCTCAGCATTC... | TAAAAGACTCAGCATTCTTGCTGGGCGCTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCGAAACGGGTGGGTCACTTGAAGCTTAGCAGTTCGAGACCAGCCTGGATAACATGGGAAAAGCCCATCTCTACATAAAATACAAATTAGCCGGGCACTGTGGCATGCTCCCGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGCAAAATTGTTTGAGCTGGTGAGGCAGAGGTTGCAGTGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGGAGTGAAATTGTCTCAAAAAAAAAAAAAAAAAACCTCAGCATTC... | benign | 40,951 |
Is the variant located on chromosome 2 at position 88562324, gene EIF2AK3, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Wolcott-Rallison_dysplasia'] | TGCTTTGCCCCTTTTTAAAATGAGTTGTCTTTTTGTTGAGTTGTAATAGTTCTTTATGTATTCTGAATTCTAGACACTTTTCGGATATAGGATTTACAAATATTTTCTCCCATTCTGTGAGCTGCCTTTTCACTTTCTATTTCATTTAATTAATTTATTTAGAGATAGGGTCTCATGGTGCCCAGGCTATTTGCAGGCATAATCATAGCTTACTGTAGCCGTGAACTCCTGGTCTCAAGGAATTCCTTTTGCCTCAAGCTTCCCACGTAGCTGGGACTACAGGCATGTGCTACCACGTCCACCTTGTCTTTTCACTTTCT... | TGCTTTGCCCCTTTTTAAAATGAGTTGTCTTTTTGTTGAGTTGTAATAGTTCTTTATGTATTCTGAATTCTAGACACTTTTCGGATATAGGATTTACAAATATTTTCTCCCATTCTGTGAGCTGCCTTTTCACTTTCTATTTCATTTAATTAATTTATTTAGAGATAGGGTCTCATGGTGCCCAGGCTATTTGCAGGCATAATCATAGCTTACTGTAGCCGTGAACTCCTGGTCTCAAGGAATTCCTTTTGCCTCAAGCTTCCCACGTAGCTGGGACTACAGGCATGTGCTACCACGTCCACCTTGTCTTTTCACTTTCT... | pathogenic | 40,959 |
Does the variant on chromosome 2 at location 88574750 affecting gene EIF2AK3 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Wolcott-Rallison_dysplasia'] | TCAGTATAAACACTTTTGAGTGCAAAGAAAATAAAATTCAAAATAAATGGTATGACCATCTAGAACATTCAGGCATTGTACTGAGACTATAACAGGTAAAAGAAACAGATATGGTTCATACCCCATAGAAACCACAGAATAAATAATCCAGGTGTGATGAGAATAATGAAGAAGGACCAGGTTTCTGTCAGAACAGTGTATATCAAGAGGAACTGAGAAAAGTTCAGAGTGGAGAAAATAGAAGACTAGAAGTTAGTCTGAAGAGGCAGGAGCCAAAGTCCTGAAGACAAAAATGTGACCAAAATATAACAGGGGGAGAG... | TCAGTATAAACACTTTTGAGTGCAAAGAAAATAAAATTCAAAATAAATGGTATGACCATCTAGAACATTCAGGCATTGTACTGAGACTATAACAGGTAAAAGAAACAGATATGGTTCATACCCCATAGAAACCACAGAATAAATAATCCAGGTGTGATGAGAATAATGAAGAAGGACCAGGTTTCTGTCAGAACAGTGTATATCAAGAGGAACTGAGAAAAGTTCAGAGTGGAGAAAATAGAAGACTAGAAGTTAGTCTGAAGAGGCAGGAGCCAAAGTCCTGAAGACAAAAATGTGACCAAAATATAACAGGGGGAGAG... | pathogenic | 40,961 |
Is the genetic change at chromosome 2, position 88574783, within gene EIF2AK3 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Wolcott-Rallison_dysplasia'] | AAATTCAAAATAAATGGTATGACCATCTAGAACATTCAGGCATTGTACTGAGACTATAACAGGTAAAAGAAACAGATATGGTTCATACCCCATAGAAACCACAGAATAAATAATCCAGGTGTGATGAGAATAATGAAGAAGGACCAGGTTTCTGTCAGAACAGTGTATATCAAGAGGAACTGAGAAAAGTTCAGAGTGGAGAAAATAGAAGACTAGAAGTTAGTCTGAAGAGGCAGGAGCCAAAGTCCTGAAGACAAAAATGTGACCAAAATATAACAGGGGGAGAGGGCCTAGAAGGTTTAACATTGAGCTCAAAGATT... | AAATTCAAAATAAATGGTATGACCATCTAGAACATTCAGGCATTGTACTGAGACTATAACAGGTAAAAGAAACAGATATGGTTCATACCCCATAGAAACCACAGAATAAATAATCCAGGTGTGATGAGAATAATGAAGAAGGACCAGGTTTCTGTCAGAACAGTGTATATCAAGAGGAACTGAGAAAAGTTCAGAGTGGAGAAAATAGAAGACTAGAAGTTAGTCTGAAGAGGCAGGAGCCAAAGTCCTGAAGACAAAAATGTGACCAAAATATAACAGGGGGAGAGGGCCTAGAAGGTTTAACATTGAGCTCAAAGATT... | pathogenic | 40,963 |
A mutation at chromosome position 88585912 on chromosome 2 in gene EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Wolcott-Rallison_dysplasia'] | TGATTTCTTTTGACAAAATAAGGTAGGGAAAAAAAGCAAACAAACAAAAAACCCAGTAACAATAACAACAACAACAAAAAGACTAGAGAGATTTCCTTCCTAACCAGTTTCATAGATTGCATTAAAATGCTTTTAAGAACAGGAAATTAAATCAGGCAATGCCTCTTTACCAACATCTCCTAAAAGATGTTTTAGAGGATGTTAATAATTATCATGGTCAAATTGGGGCACTGTGGGTCACCTGTTTAGTCACTGATTCTTTCAACAAATCTTTACTGAGCTCCAATTATGTGCCAAGCACTGTGTAAGGGGCTGAGGAG... | TGATTTCTTTTGACAAAATAAGGTAGGGAAAAAAAGCAAACAAACAAAAAACCCAGTAACAATAACAACAACAACAAAAAGACTAGAGAGATTTCCTTCCTAACCAGTTTCATAGATTGCATTAAAATGCTTTTAAGAACAGGAAATTAAATCAGGCAATGCCTCTTTACCAACATCTCCTAAAAGATGTTTTAGAGGATGTTAATAATTATCATGGTCAAATTGGGGCACTGTGGGTCACCTGTTTAGTCACTGATTCTTTCAACAAATCTTTACTGAGCTCCAATTATGTGCCAAGCACTGTGTAAGGGGCTGAGGAG... | pathogenic | 40,977 |
Gene EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3) variant at chromosome 2, position 88585917—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Wolcott-Rallison_dysplasia'] | TCTTTTGACAAAATAAGGTAGGGAAAAAAAGCAAACAAACAAAAAACCCAGTAACAATAACAACAACAACAAAAAGACTAGAGAGATTTCCTTCCTAACCAGTTTCATAGATTGCATTAAAATGCTTTTAAGAACAGGAAATTAAATCAGGCAATGCCTCTTTACCAACATCTCCTAAAAGATGTTTTAGAGGATGTTAATAATTATCATGGTCAAATTGGGGCACTGTGGGTCACCTGTTTAGTCACTGATTCTTTCAACAAATCTTTACTGAGCTCCAATTATGTGCCAAGCACTGTGTAAGGGGCTGAGGAGATGGT... | TCTTTTGACAAAATAAGGTAGGGAAAAAAAGCAAACAAACAAAAAACCCAGTAACAATAACAACAACAACAAAAAGACTAGAGAGATTTCCTTCCTAACCAGTTTCATAGATTGCATTAAAATGCTTTTAAGAACAGGAAATTAAATCAGGCAATGCCTCTTTACCAACATCTCCTAAAAGATGTTTTAGAGGATGTTAATAATTATCATGGTCAAATTGGGGCACTGTGGGTCACCTGTTTAGTCACTGATTCTTTCAACAAATCTTTACTGAGCTCCAATTATGTGCCAAGCACTGTGTAAGGGGCTGAGGAGATGGT... | pathogenic | 40,978 |
Is the chromosome 2, position 88585925 variant in EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Wolcott-Rallison_dysplasia'] | CAAAATAAGGTAGGGAAAAAAAGCAAACAAACAAAAAACCCAGTAACAATAACAACAACAACAAAAAGACTAGAGAGATTTCCTTCCTAACCAGTTTCATAGATTGCATTAAAATGCTTTTAAGAACAGGAAATTAAATCAGGCAATGCCTCTTTACCAACATCTCCTAAAAGATGTTTTAGAGGATGTTAATAATTATCATGGTCAAATTGGGGCACTGTGGGTCACCTGTTTAGTCACTGATTCTTTCAACAAATCTTTACTGAGCTCCAATTATGTGCCAAGCACTGTGTAAGGGGCTGAGGAGATGGTGGTAAACA... | CAAAATAAGGTAGGGAAAAAAAGCAAACAAACAAAAAACCCAGTAACAATAACAACAACAACAAAAAGACTAGAGAGATTTCCTTCCTAACCAGTTTCATAGATTGCATTAAAATGCTTTTAAGAACAGGAAATTAAATCAGGCAATGCCTCTTTACCAACATCTCCTAAAAGATGTTTTAGAGGATGTTAATAATTATCATGGTCAAATTGGGGCACTGTGGGTCACCTGTTTAGTCACTGATTCTTTCAACAAATCTTTACTGAGCTCCAATTATGTGCCAAGCACTGTGTAAGGGGCTGAGGAGATGGTGGTAAACA... | pathogenic | 40,979 |
Evaluate this variant at chromosome 2, position 88627211, gene EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GTGACAATGATGCTATTAGCATCAGACTATATGCATATACAGTCGGCTCTAACCTATTTTTTCTATCCTCATCTACTTCTCCCTGCCTAGCATACATATGTGCATGTCTATATCGCTTACGTACACACACACACACACACACACACACACACACACACACACACAGACATACACAGAGACAAAATGTTTTCCAAACATAATCTCCGGCCTCTGTGCCTCTTGCTGTTTCCTCAAGTCCAGTGACTTTCCATTACAATTTTACCCATTTTTCAGGAACCAACTCATTCTGCCACAACCTTCTCTTATCTTCTTACCTACCC... | GTGACAATGATGCTATTAGCATCAGACTATATGCATATACAGTCGGCTCTAACCTATTTTTTCTATCCTCATCTACTTCTCCCTGCCTAGCATACATATGTGCATGTCTATATCGCTTACGTACACACACACACACACACACACACACACACACACACACACACAGACATACACAGAGACAAAATGTTTTCCAAACATAATCTCCGGCCTCTGTGCCTCTTGCTGTTTCCTCAAGTCCAGTGACTTTCCATTACAATTTTACCCATTTTTCAGGAACCAACTCATTCTGCCACAACCTTCTCTTATCTTCTTACCTACCC... | benign | 41,002 |
Is the chromosome 2, position 96253954 variant in TMEM127 (transmembrane protein 127) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma'] | TTCTGGTCTGCCTGCTCAGACACCCAAGGGCAGAGAGAGCTGGCCACAAGTAAACCTGCCAATGACAAACTCAGGACTTAACAGAAAGACTTAGTTCAGTTCCTTGGCTTTGTGCTCAGGCATCACATAGCAGGCAGCCTGCAGCCTTTCTTGCCTGAGAGAAGAGTCCAGAAGAGCAGGAGAGTCACCTTTGAACACACTCTGGCATCACAGCAGTGAACTGCAAGCAGCCACTGGCTCGTGTGCAGATGTGGCCCTCACCACCCATGCAGGCATCTGTCCGGACATCCCCAGTCAATCTGGCCAAAGGATGGGACATG... | TTCTGGTCTGCCTGCTCAGACACCCAAGGGCAGAGAGAGCTGGCCACAAGTAAACCTGCCAATGACAAACTCAGGACTTAACAGAAAGACTTAGTTCAGTTCCTTGGCTTTGTGCTCAGGCATCACATAGCAGGCAGCCTGCAGCCTTTCTTGCCTGAGAGAAGAGTCCAGAAGAGCAGGAGAGTCACCTTTGAACACACTCTGGCATCACAGCAGTGAACTGCAAGCAGCCACTGGCTCGTGTGCAGATGTGGCCCTCACCACCCATGCAGGCATCTGTCCGGACATCCCCAGTCAATCTGGCCAAAGGATGGGACATG... | pathogenic | 41,047 |
Gene TMEM127 (transmembrane protein 127) variant at chromosome 2, position 96253992—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_pheochromocytoma-paraganglioma'] | GCTGGCCACAAGTAAACCTGCCAATGACAAACTCAGGACTTAACAGAAAGACTTAGTTCAGTTCCTTGGCTTTGTGCTCAGGCATCACATAGCAGGCAGCCTGCAGCCTTTCTTGCCTGAGAGAAGAGTCCAGAAGAGCAGGAGAGTCACCTTTGAACACACTCTGGCATCACAGCAGTGAACTGCAAGCAGCCACTGGCTCGTGTGCAGATGTGGCCCTCACCACCCATGCAGGCATCTGTCCGGACATCCCCAGTCAATCTGGCCAAAGGATGGGACATGACAGTCCCTTTCTAGCCACAGCTTCATAGTGTTGTCCA... | GCTGGCCACAAGTAAACCTGCCAATGACAAACTCAGGACTTAACAGAAAGACTTAGTTCAGTTCCTTGGCTTTGTGCTCAGGCATCACATAGCAGGCAGCCTGCAGCCTTTCTTGCCTGAGAGAAGAGTCCAGAAGAGCAGGAGAGTCACCTTTGAACACACTCTGGCATCACAGCAGTGAACTGCAAGCAGCCACTGGCTCGTGTGCAGATGTGGCCCTCACCACCCATGCAGGCATCTGTCCGGACATCCCCAGTCAATCTGGCCAAAGGATGGGACATGACAGTCCCTTTCTAGCCACAGCTTCATAGTGTTGTCCA... | pathogenic | 41,057 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 96253994, gene TMEM127 (transmembrane protein 127). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma'] | TGGCCACAAGTAAACCTGCCAATGACAAACTCAGGACTTAACAGAAAGACTTAGTTCAGTTCCTTGGCTTTGTGCTCAGGCATCACATAGCAGGCAGCCTGCAGCCTTTCTTGCCTGAGAGAAGAGTCCAGAAGAGCAGGAGAGTCACCTTTGAACACACTCTGGCATCACAGCAGTGAACTGCAAGCAGCCACTGGCTCGTGTGCAGATGTGGCCCTCACCACCCATGCAGGCATCTGTCCGGACATCCCCAGTCAATCTGGCCAAAGGATGGGACATGACAGTCCCTTTCTAGCCACAGCTTCATAGTGTTGTCCATT... | TGGCCACAAGTAAACCTGCCAATGACAAACTCAGGACTTAACAGAAAGACTTAGTTCAGTTCCTTGGCTTTGTGCTCAGGCATCACATAGCAGGCAGCCTGCAGCCTTTCTTGCCTGAGAGAAGAGTCCAGAAGAGCAGGAGAGTCACCTTTGAACACACTCTGGCATCACAGCAGTGAACTGCAAGCAGCCACTGGCTCGTGTGCAGATGTGGCCCTCACCACCCATGCAGGCATCTGTCCGGACATCCCCAGTCAATCTGGCCAAAGGATGGGACATGACAGTCCCTTTCTAGCCACAGCTTCATAGTGTTGTCCATT... | pathogenic | 41,058 |
Clinical significance of chromosome 2, position 96254008, gene TMEM127 (transmembrane protein 127): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma'] | CCTGCCAATGACAAACTCAGGACTTAACAGAAAGACTTAGTTCAGTTCCTTGGCTTTGTGCTCAGGCATCACATAGCAGGCAGCCTGCAGCCTTTCTTGCCTGAGAGAAGAGTCCAGAAGAGCAGGAGAGTCACCTTTGAACACACTCTGGCATCACAGCAGTGAACTGCAAGCAGCCACTGGCTCGTGTGCAGATGTGGCCCTCACCACCCATGCAGGCATCTGTCCGGACATCCCCAGTCAATCTGGCCAAAGGATGGGACATGACAGTCCCTTTCTAGCCACAGCTTCATAGTGTTGTCCATTCTCCAGTCTTGCTC... | CCTGCCAATGACAAACTCAGGACTTAACAGAAAGACTTAGTTCAGTTCCTTGGCTTTGTGCTCAGGCATCACATAGCAGGCAGCCTGCAGCCTTTCTTGCCTGAGAGAAGAGTCCAGAAGAGCAGGAGAGTCACCTTTGAACACACTCTGGCATCACAGCAGTGAACTGCAAGCAGCCACTGGCTCGTGTGCAGATGTGGCCCTCACCACCCATGCAGGCATCTGTCCGGACATCCCCAGTCAATCTGGCCAAAGGATGGGACATGACAGTCCCTTTCTAGCCACAGCTTCATAGTGTTGTCCATTCTCCAGTCTTGCTC... | pathogenic | 41,061 |
Does the variant on chromosome 2 at location 96254844 affecting gene TMEM127 (transmembrane protein 127) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Pheochromocytoma'] | CAGGCCACAGTCCTCAGCCCCTCTGGGTTCCACGAGAAGGCCCCAGGGAGTCACCGTCACTGAGAGGGAAGGGGCCAGGGAAGGGAGGCTGCATTCTACTGGGAGAGACTCGGGGAGGGACTACCATGGGCTTGGAAGGAGCTACAGCCCCAAATATTGCAGAGCCAAAAGGAATGGGATACATGTCTAAAAAGTGACAACAGTCTTGTCCCTATTTTAAAAACAGAATATTGTTGCTGTTGCCTGGTTTCATTTTTTTCCTTTTAAAACCACTCATATTTAAAAGGTGAAGGGCTGGGAGATGTAGTCCCCTTCACTCT... | CAGGCCACAGTCCTCAGCCCCTCTGGGTTCCACGAGAAGGCCCCAGGGAGTCACCGTCACTGAGAGGGAAGGGGCCAGGGAAGGGAGGCTGCATTCTACTGGGAGAGACTCGGGGAGGGACTACCATGGGCTTGGAAGGAGCTACAGCCCCAAATATTGCAGAGCCAAAAGGAATGGGATACATGTCTAAAAAGTGACAACAGTCTTGTCCCTATTTTAAAAACAGAATATTGTTGCTGTTGCCTGGTTTCATTTTTTTCCTTTTAAAACCACTCATATTTAAAAGGTGAAGGGCTGGGAGATGTAGTCCCCTTCACTCT... | pathogenic | 41,091 |
Determine if the mutation at chromosome 2, position 96254858 in gene TMEM127 (transmembrane protein 127) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma'] | CAGCCCCTCTGGGTTCCACGAGAAGGCCCCAGGGAGTCACCGTCACTGAGAGGGAAGGGGCCAGGGAAGGGAGGCTGCATTCTACTGGGAGAGACTCGGGGAGGGACTACCATGGGCTTGGAAGGAGCTACAGCCCCAAATATTGCAGAGCCAAAAGGAATGGGATACATGTCTAAAAAGTGACAACAGTCTTGTCCCTATTTTAAAAACAGAATATTGTTGCTGTTGCCTGGTTTCATTTTTTTCCTTTTAAAACCACTCATATTTAAAAGGTGAAGGGCTGGGAGATGTAGTCCCCTTCACTCTGGTCCTTGATAGGC... | CAGCCCCTCTGGGTTCCACGAGAAGGCCCCAGGGAGTCACCGTCACTGAGAGGGAAGGGGCCAGGGAAGGGAGGCTGCATTCTACTGGGAGAGACTCGGGGAGGGACTACCATGGGCTTGGAAGGAGCTACAGCCCCAAATATTGCAGAGCCAAAAGGAATGGGATACATGTCTAAAAAGTGACAACAGTCTTGTCCCTATTTTAAAAACAGAATATTGTTGCTGTTGCCTGGTTTCATTTTTTTCCTTTTAAAACCACTCATATTTAAAAGGTGAAGGGCTGGGAGATGTAGTCCCCTTCACTCTGGTCCTTGATAGGC... | pathogenic | 41,095 |
Variant on chromosome 2, at position 96254933, affecting TMEM127 (transmembrane protein 127): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma'] | TGCATTCTACTGGGAGAGACTCGGGGAGGGACTACCATGGGCTTGGAAGGAGCTACAGCCCCAAATATTGCAGAGCCAAAAGGAATGGGATACATGTCTAAAAAGTGACAACAGTCTTGTCCCTATTTTAAAAACAGAATATTGTTGCTGTTGCCTGGTTTCATTTTTTTCCTTTTAAAACCACTCATATTTAAAAGGTGAAGGGCTGGGAGATGTAGTCCCCTTCACTCTGGTCCTTGATAGGCACCAGGGGGCCTCAGTCTCACGCTGGCTCCTGCTCTCCTTGCCTGGGCTCCAGCCACATGAAGCAAGGGCAGAGA... | TGCATTCTACTGGGAGAGACTCGGGGAGGGACTACCATGGGCTTGGAAGGAGCTACAGCCCCAAATATTGCAGAGCCAAAAGGAATGGGATACATGTCTAAAAAGTGACAACAGTCTTGTCCCTATTTTAAAAACAGAATATTGTTGCTGTTGCCTGGTTTCATTTTTTTCCTTTTAAAACCACTCATATTTAAAAGGTGAAGGGCTGGGAGATGTAGTCCCCTTCACTCTGGTCCTTGATAGGCACCAGGGGGCCTCAGTCTCACGCTGGCTCCTGCTCTCCTTGCCTGGGCTCCAGCCACATGAAGCAAGGGCAGAGA... | pathogenic | 41,111 |
The chromosome 2, position 96254973 genetic variant in gene TMEM127 (transmembrane protein 127): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma'] | GCTTGGAAGGAGCTACAGCCCCAAATATTGCAGAGCCAAAAGGAATGGGATACATGTCTAAAAAGTGACAACAGTCTTGTCCCTATTTTAAAAACAGAATATTGTTGCTGTTGCCTGGTTTCATTTTTTTCCTTTTAAAACCACTCATATTTAAAAGGTGAAGGGCTGGGAGATGTAGTCCCCTTCACTCTGGTCCTTGATAGGCACCAGGGGGCCTCAGTCTCACGCTGGCTCCTGCTCTCCTTGCCTGGGCTCCAGCCACATGAAGCAAGGGCAGAGAGGGTTGCAACTGCTCTGCCTTCCCAACAGCGATTCCCTCT... | GCTTGGAAGGAGCTACAGCCCCAAATATTGCAGAGCCAAAAGGAATGGGATACATGTCTAAAAAGTGACAACAGTCTTGTCCCTATTTTAAAAACAGAATATTGTTGCTGTTGCCTGGTTTCATTTTTTTCCTTTTAAAACCACTCATATTTAAAAGGTGAAGGGCTGGGAGATGTAGTCCCCTTCACTCTGGTCCTTGATAGGCACCAGGGGGCCTCAGTCTCACGCTGGCTCCTGCTCTCCTTGCCTGGGCTCCAGCCACATGAAGCAAGGGCAGAGAGGGTTGCAACTGCTCTGCCTTCCCAACAGCGATTCCCTCT... | pathogenic | 41,121 |
A mutation at chromosome position 96254973 on chromosome 2 in gene TMEM127 (transmembrane protein 127): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Pheochromocytoma'] | GCTTGGAAGGAGCTACAGCCCCAAATATTGCAGAGCCAAAAGGAATGGGATACATGTCTAAAAAGTGACAACAGTCTTGTCCCTATTTTAAAAACAGAATATTGTTGCTGTTGCCTGGTTTCATTTTTTTCCTTTTAAAACCACTCATATTTAAAAGGTGAAGGGCTGGGAGATGTAGTCCCCTTCACTCTGGTCCTTGATAGGCACCAGGGGGCCTCAGTCTCACGCTGGCTCCTGCTCTCCTTGCCTGGGCTCCAGCCACATGAAGCAAGGGCAGAGAGGGTTGCAACTGCTCTGCCTTCCCAACAGCGATTCCCTCT... | GCTTGGAAGGAGCTACAGCCCCAAATATTGCAGAGCCAAAAGGAATGGGATACATGTCTAAAAAGTGACAACAGTCTTGTCCCTATTTTAAAAACAGAATATTGTTGCTGTTGCCTGGTTTCATTTTTTTCCTTTTAAAACCACTCATATTTAAAAGGTGAAGGGCTGGGAGATGTAGTCCCCTTCACTCTGGTCCTTGATAGGCACCAGGGGGCCTCAGTCTCACGCTGGCTCCTGCTCTCCTTGCCTGGGCTCCAGCCACATGAAGCAAGGGCAGAGAGGGTTGCAACTGCTCTGCCTTCCCAACAGCGATTCCCTCT... | pathogenic | 41,122 |
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