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 |
|---|---|---|---|---|---|
Considering the variant on chromosome 4, location 15589658, involving gene CC2D2A (coiled-coil and C2 domain containing 2A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome'] | ATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCCTGAG... | ATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCCTGAG... | pathogenic | 80,622 |
The mutation in gene CC2D2A (coiled-coil and C2 domain containing 2A) at chromosome 4, position 15597431—clinically benign or pathogenic? If pathogenic, identify the related 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'] | ACAGGCAATTATAAACAATGCTAACTAATAATAATTTTAAAATAGCTAACAATTATTGAGCACTTACTACATACCAGGCATTTTTCTAAGAGGTACAGATTAATTAACTCACTGAATCAACTCAACCTTGAGGTAGATACTATTTATTATCCCACTGTTAAACAGAAGGAAACCGAGGCATACAGAAGTTACATTAATCATCCAAGGTCACACAAATAGTAAATGTTGGAGCCAAAATTAAAACACAAGTGGTCTGGTTCCAGAACCAACATGCTACGCTGCCTCACCAACACAAGGGCTATCTCAGAGAATGCGCATTG... | ACAGGCAATTATAAACAATGCTAACTAATAATAATTTTAAAATAGCTAACAATTATTGAGCACTTACTACATACCAGGCATTTTTCTAAGAGGTACAGATTAATTAACTCACTGAATCAACTCAACCTTGAGGTAGATACTATTTATTATCCCACTGTTAAACAGAAGGAAACCGAGGCATACAGAAGTTACATTAATCATCCAAGGTCACACAAATAGTAAATGTTGGAGCCAAAATTAAAACACAAGTGGTCTGGTTCCAGAACCAACATGCTACGCTGCCTCACCAACACAAGGGCTATCTCAGAGAATGCGCATTG... | pathogenic | 80,625 |
Variant at chromosome 4, position 15599548, gene CC2D2A (coiled-coil and C2 domain containing 2A): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['COACH_syndrome_2', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_9', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_6', 'Retinitis_pigmentosa_93'] | TCACTAGGAGTATAATACCAAACTTTAAACCACTGTCAGCCTGGATGAATGTGAAACAATTTAGGCAACTTAACTTTAATTCATGTTTATAGATTCCAAATACAGATGTGATCTCTAAATCCCATGGCTCAAAAGGAGCCTTTAGCATCAGCATGCTGTGGAACCAACCAGAGTGGAACACCAGTAATACGTACTTCTACAGGGACTTCACCTTGGATTGGAGTTTAACATCATGTTATAGGTGTTGTTGAGGCACATCATAAATCTCAGCTTAAATATACCTCTTCTGTCCTATTGAACTGCAGCTAGTTTATGGACCT... | TCACTAGGAGTATAATACCAAACTTTAAACCACTGTCAGCCTGGATGAATGTGAAACAATTTAGGCAACTTAACTTTAATTCATGTTTATAGATTCCAAATACAGATGTGATCTCTAAATCCCATGGCTCAAAAGGAGCCTTTAGCATCAGCATGCTGTGGAACCAACCAGAGTGGAACACCAGTAATACGTACTTCTACAGGGACTTCACCTTGGATTGGAGTTTAACATCATGTTATAGGTGTTGTTGAGGCACATCATAAATCTCAGCTTAAATATACCTCTTCTGTCCTATTGAACTGCAGCTAGTTTATGGACCT... | pathogenic | 80,627 |
Clinical impact (benign or pathogenic) of the variant at chromosome 4, location 15599548, gene CC2D2A (coiled-coil and C2 domain containing 2A): what 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'] | TCACTAGGAGTATAATACCAAACTTTAAACCACTGTCAGCCTGGATGAATGTGAAACAATTTAGGCAACTTAACTTTAATTCATGTTTATAGATTCCAAATACAGATGTGATCTCTAAATCCCATGGCTCAAAAGGAGCCTTTAGCATCAGCATGCTGTGGAACCAACCAGAGTGGAACACCAGTAATACGTACTTCTACAGGGACTTCACCTTGGATTGGAGTTTAACATCATGTTATAGGTGTTGTTGAGGCACATCATAAATCTCAGCTTAAATATACCTCTTCTGTCCTATTGAACTGCAGCTAGTTTATGGACCT... | TCACTAGGAGTATAATACCAAACTTTAAACCACTGTCAGCCTGGATGAATGTGAAACAATTTAGGCAACTTAACTTTAATTCATGTTTATAGATTCCAAATACAGATGTGATCTCTAAATCCCATGGCTCAAAAGGAGCCTTTAGCATCAGCATGCTGTGGAACCAACCAGAGTGGAACACCAGTAATACGTACTTCTACAGGGACTTCACCTTGGATTGGAGTTTAACATCATGTTATAGGTGTTGTTGAGGCACATCATAAATCTCAGCTTAAATATACCTCTTCTGTCCTATTGAACTGCAGCTAGTTTATGGACCT... | pathogenic | 80,628 |
Evaluate this variant at chromosome 4, position 15599626, gene CC2D2A (coiled-coil and C2 domain containing 2A): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_1', 'Meckel-Gruber_syndrome'] | ATTCATGTTTATAGATTCCAAATACAGATGTGATCTCTAAATCCCATGGCTCAAAAGGAGCCTTTAGCATCAGCATGCTGTGGAACCAACCAGAGTGGAACACCAGTAATACGTACTTCTACAGGGACTTCACCTTGGATTGGAGTTTAACATCATGTTATAGGTGTTGTTGAGGCACATCATAAATCTCAGCTTAAATATACCTCTTCTGTCCTATTGAACTGCAGCTAGTTTATGGACCTAACACATGGAGAAGATCAGTAAGAGCCTGTATGAGTCTCTGTAATTCTCATAACCCTGTAAAAATAGAACTTATTCTC... | ATTCATGTTTATAGATTCCAAATACAGATGTGATCTCTAAATCCCATGGCTCAAAAGGAGCCTTTAGCATCAGCATGCTGTGGAACCAACCAGAGTGGAACACCAGTAATACGTACTTCTACAGGGACTTCACCTTGGATTGGAGTTTAACATCATGTTATAGGTGTTGTTGAGGCACATCATAAATCTCAGCTTAAATATACCTCTTCTGTCCTATTGAACTGCAGCTAGTTTATGGACCTAACACATGGAGAAGATCAGTAAGAGCCTGTATGAGTCTCTGTAATTCTCATAACCCTGTAAAAATAGAACTTATTCTC... | pathogenic | 80,635 |
The mutation impacting PROM1 (prominin 1) on chromosome 4 at position 15980496: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa'] | GGATGTGCCTGACTGGTAAGCAGCTTCTGGCCTGGGAGGCTCTAAATATAAATACCTGGTGTGAAGCCAAAGCTGTGGGCTTACCTGAATGTGGGCACTTTTAACTGGATGCCTCCCATGTGGAGCGTGGGCCTTCTAAGGTGGATCTCCCCCATGCACCAACGTTAGACTCACCCTTTTGCATCTGAGACATCACTGTGGGGAGCGGGCTCGGGGGAGCACTGGCGGGCCAGCTGTATGGGCGTGGGAAGGATCACGCCCACTGAAGAGGACAGCCCACTGCTGCCCTGCTGCCCTGCACACTATGTCTCCACCTCTTA... | GGATGTGCCTGACTGGTAAGCAGCTTCTGGCCTGGGAGGCTCTAAATATAAATACCTGGTGTGAAGCCAAAGCTGTGGGCTTACCTGAATGTGGGCACTTTTAACTGGATGCCTCCCATGTGGAGCGTGGGCCTTCTAAGGTGGATCTCCCCCATGCACCAACGTTAGACTCACCCTTTTGCATCTGAGACATCACTGTGGGGAGCGGGCTCGGGGGAGCACTGGCGGGCCAGCTGTATGGGCGTGGGAAGGATCACGCCCACTGAAGAGGACAGCCCACTGCTGCCCTGCTGCCCTGCACACTATGTCTCCACCTCTTA... | pathogenic | 80,650 |
Benign or pathogenic: chromosome 4, position 15980540, gene PROM1 (prominin 1) variant? Disease(s) if pathogenic? | benign | AATATAAATACCTGGTGTGAAGCCAAAGCTGTGGGCTTACCTGAATGTGGGCACTTTTAACTGGATGCCTCCCATGTGGAGCGTGGGCCTTCTAAGGTGGATCTCCCCCATGCACCAACGTTAGACTCACCCTTTTGCATCTGAGACATCACTGTGGGGAGCGGGCTCGGGGGAGCACTGGCGGGCCAGCTGTATGGGCGTGGGAAGGATCACGCCCACTGAAGAGGACAGCCCACTGCTGCCCTGCTGCCCTGCACACTATGTCTCCACCTCTTATAAGCAGATAGGTCCCTGGCTGACGTGTGGGTCTGAATTCTTAG... | AATATAAATACCTGGTGTGAAGCCAAAGCTGTGGGCTTACCTGAATGTGGGCACTTTTAACTGGATGCCTCCCATGTGGAGCGTGGGCCTTCTAAGGTGGATCTCCCCCATGCACCAACGTTAGACTCACCCTTTTGCATCTGAGACATCACTGTGGGGAGCGGGCTCGGGGGAGCACTGGCGGGCCAGCTGTATGGGCGTGGGAAGGATCACGCCCACTGAAGAGGACAGCCCACTGCTGCCCTGCTGCCCTGCACACTATGTCTCCACCTCTTATAAGCAGATAGGTCCCTGGCTGACGTGTGGGTCTGAATTCTTAG... | benign | 80,651 |
Is chromosome 4, position 15984263, gene PROM1 (prominin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Retinal_dystrophy'] | CCACCATGAGGCCAAATGCCACTTGGAAATAACACCTGCTTCACCCTCACAGCTTGACCCTGCATTTCTGCTTTGCTCCTGGCTGAGTTCAGAATTACAGAGGTGGCACCACCTCTTGGCTCCTAACTTCCAGTCAATTTGTTCCCCCTTCCCTCTATGTTCTGTTAGATTTCTGTTTTCAACCTTGTCTTGAGAAGCTTTATAACTTTATAACAACCTTATCCTTTTTCTGGAAGCTGCCTCAATCCTTTTGGGGACAATTGAGATACAAAATAAACATGTTAGCTAGCCCACAGTCTATCGTATTGACTAAATGGATG... | CCACCATGAGGCCAAATGCCACTTGGAAATAACACCTGCTTCACCCTCACAGCTTGACCCTGCATTTCTGCTTTGCTCCTGGCTGAGTTCAGAATTACAGAGGTGGCACCACCTCTTGGCTCCTAACTTCCAGTCAATTTGTTCCCCCTTCCCTCTATGTTCTGTTAGATTTCTGTTTTCAACCTTGTCTTGAGAAGCTTTATAACTTTATAACAACCTTATCCTTTTTCTGGAAGCTGCCTCAATCCTTTTGGGGACAATTGAGATACAAAATAAACATGTTAGCTAGCCCACAGTCTATCGTATTGACTAAATGGATG... | pathogenic | 80,654 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 15984306, gene PROM1 (prominin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['PROM1-related_disorder'] | CCCTCACAGCTTGACCCTGCATTTCTGCTTTGCTCCTGGCTGAGTTCAGAATTACAGAGGTGGCACCACCTCTTGGCTCCTAACTTCCAGTCAATTTGTTCCCCCTTCCCTCTATGTTCTGTTAGATTTCTGTTTTCAACCTTGTCTTGAGAAGCTTTATAACTTTATAACAACCTTATCCTTTTTCTGGAAGCTGCCTCAATCCTTTTGGGGACAATTGAGATACAAAATAAACATGTTAGCTAGCCCACAGTCTATCGTATTGACTAAATGGATGCCCAGAGCTCTTCCTTACGATGTAAACCCTCTGCTACACAGCT... | CCCTCACAGCTTGACCCTGCATTTCTGCTTTGCTCCTGGCTGAGTTCAGAATTACAGAGGTGGCACCACCTCTTGGCTCCTAACTTCCAGTCAATTTGTTCCCCCTTCCCTCTATGTTCTGTTAGATTTCTGTTTTCAACCTTGTCTTGAGAAGCTTTATAACTTTATAACAACCTTATCCTTTTTCTGGAAGCTGCCTCAATCCTTTTGGGGACAATTGAGATACAAAATAAACATGTTAGCTAGCCCACAGTCTATCGTATTGACTAAATGGATGCCCAGAGCTCTTCCTTACGATGTAAACCCTCTGCTACACAGCT... | pathogenic | 80,655 |
Assess the variant on chromosome 4, position 15985824, impacting PROM1 (prominin 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Retinal_macular_dystrophy_type_2'] | CTTTCAGCAGAGGGAGAGGATCCACTCACAGAGAGAGTCAGCATCTGTTGAGGAGGGAACAGAGCTGAGGATTAAGCCTGACTAACTGGAACTTACCATCCCAATAGTCACATTTCTAAGGGCTTTTTAATGACAAATGAAATTTGATGCAACTTTGGGGTTGTAAATGTAGTTGTACTGAGTATTCTTTTGAAGATGAGAAATCTGCACACCCGTGACTGTCTTTCTGATTATTCTGAACTAACAGGAGTTTTCTCCCTGCAGGTCTCCTGACTCATAAATATAATCCTAGTGAGGAAAGAAGACAACCGCCCAGAACT... | CTTTCAGCAGAGGGAGAGGATCCACTCACAGAGAGAGTCAGCATCTGTTGAGGAGGGAACAGAGCTGAGGATTAAGCCTGACTAACTGGAACTTACCATCCCAATAGTCACATTTCTAAGGGCTTTTTAATGACAAATGAAATTTGATGCAACTTTGGGGTTGTAAATGTAGTTGTACTGAGTATTCTTTTGAAGATGAGAAATCTGCACACCCGTGACTGTCTTTCTGATTATTCTGAACTAACAGGAGTTTTCTCCCTGCAGGTCTCCTGACTCATAAATATAATCCTAGTGAGGAAAGAAGACAACCGCCCAGAACT... | pathogenic | 80,662 |
Evaluate this variant at chromosome 4, position 15987660, gene PROM1 (prominin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_retinitis_pigmentosa'] | AAGTCTTGGTCCTGCACATCAATGTCCTTTCACTTACTTCCTACCAAATTATGGGAAATTTAATTTTATTTCTTCCAGATTTTACCCTAGAAAATGGCTATCCTGAAACTTGACCCCCCTTAACATTCATAAAAGATAAACTACTTACAGAGAACTCGATCCACTGCAGATAATGTTCAAAATATCCTATTATTGTTCTCCCATACTTCTTAGTTTCCTGGAAAGAAACAAAAGATGAGTAGAAGCATTAAAATGATGACAGCATACTTAAACATTATAAATATTTAATCTGTAACATTCAAGTGCCCACTTATGGACAC... | AAGTCTTGGTCCTGCACATCAATGTCCTTTCACTTACTTCCTACCAAATTATGGGAAATTTAATTTTATTTCTTCCAGATTTTACCCTAGAAAATGGCTATCCTGAAACTTGACCCCCCTTAACATTCATAAAAGATAAACTACTTACAGAGAACTCGATCCACTGCAGATAATGTTCAAAATATCCTATTATTGTTCTCCCATACTTCTTAGTTTCCTGGAAAGAAACAAAAGATGAGTAGAAGCATTAAAATGATGACAGCATACTTAAACATTATAAATATTTAATCTGTAACATTCAAGTGCCCACTTATGGACAC... | pathogenic | 80,669 |
For chromosome 4, position 15992268, gene PROM1 (prominin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Retinal_dystrophy'] | CCCATTTTACAGATGAGGAAACTAAGGCAGAAGGGAGAAATAACTTGCCTAAGCTCCTATACCGAGTCAAGACTTAGACCCAGGTCTTCTTCAAGAGCCCAGGTTCCTCGTCACCATGGCGTGCTGCTTCTTGGACGGGGCCAGTTAAGGCCAAGTAGTCACCAACCAGCAGAGGAGTTGAAAGGGGAAGCTTATGGGGCTGGGGTGGTACCTCTGCCTTCCCTCATCACTTACTATTGGTAACTCAAAGCAACACATGAAATCTTCCTCCCACAGCCCCAGGTACTATTCCCTACACAGCAGGAAAACAACCTGTGTGC... | CCCATTTTACAGATGAGGAAACTAAGGCAGAAGGGAGAAATAACTTGCCTAAGCTCCTATACCGAGTCAAGACTTAGACCCAGGTCTTCTTCAAGAGCCCAGGTTCCTCGTCACCATGGCGTGCTGCTTCTTGGACGGGGCCAGTTAAGGCCAAGTAGTCACCAACCAGCAGAGGAGTTGAAAGGGGAAGCTTATGGGGCTGGGGTGGTACCTCTGCCTTCCCTCATCACTTACTATTGGTAACTCAAAGCAACACATGAAATCTTCCTCCCACAGCCCCAGGTACTATTCCCTACACAGCAGGAAAACAACCTGTGTGC... | pathogenic | 80,680 |
Clinical impact (benign or pathogenic) of the variant at chromosome 4, location 15994056, gene PROM1 (prominin 1): what disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy'] | GAAATGGGGGCAACTGCTTTGGGGTTTGCTTTAGGGTGATGAAAATGTCTTGGAACTACAGGAACTACAGAAGTAGTTGTGCAGCACTGTGAATGTACTCAATGCCACCGAATTGCTCACTTTAAAATAGTCTTACATCATGTGAATCTCATCTTAATAAAAAATCAAAAGCAAAACAGAAATACACATCTGACACTTTAATTTCTCCTAAAGGATCAAGCATGAACACATGCGCCATACCTGAGCCAAGTAGCTGTCATAATTCATTCTGTCTATTCCACAAGCAGCAAAATCCTGAAGGTTTTTTCTTCCTGCTGCAC... | GAAATGGGGGCAACTGCTTTGGGGTTTGCTTTAGGGTGATGAAAATGTCTTGGAACTACAGGAACTACAGAAGTAGTTGTGCAGCACTGTGAATGTACTCAATGCCACCGAATTGCTCACTTTAAAATAGTCTTACATCATGTGAATCTCATCTTAATAAAAAATCAAAAGCAAAACAGAAATACACATCTGACACTTTAATTTCTCCTAAAGGATCAAGCATGAACACATGCGCCATACCTGAGCCAAGTAGCTGTCATAATTCATTCTGTCTATTCCACAAGCAGCAAAATCCTGAAGGTTTTTTCTTCCTGCTGCAC... | pathogenic | 80,682 |
Considering the genetic mutation at chromosome 4, position 15998418, impacting PROM1 (prominin 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy'] | CGTGGTGACAGACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATGGTGCCATTACACTCCAGCCCGGGTGATAGAGCGAGACTCCATCTCAGAAAATAAATAAATAAATAAATAAATAAATAAATACTTAGTAATGACACAGCTACATTTGTTTTAAAATAACTTCTGTGGTTTGGCTACAGGAACTAATGACCATTGATTAATTAAATGTGTGCATATTTCAAAATATTTTTAAAAAGTACAAAAAGAACCTTGCAATACCTAAAAGTA... | CGTGGTGACAGACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATGGTGCCATTACACTCCAGCCCGGGTGATAGAGCGAGACTCCATCTCAGAAAATAAATAAATAAATAAATAAATAAATAAATACTTAGTAATGACACAGCTACATTTGTTTTAAAATAACTTCTGTGGTTTGGCTACAGGAACTAATGACCATTGATTAATTAAATGTGTGCATATTTCAAAATATTTTTAAAAAGTACAAAAAGAACCTTGCAATACCTAAAAGTA... | pathogenic | 80,683 |
Determine if the mutation at chromosome 4, position 15998437 in gene PROM1 (prominin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinal_dystrophy'] | AATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATGGTGCCATTACACTCCAGCCCGGGTGATAGAGCGAGACTCCATCTCAGAAAATAAATAAATAAATAAATAAATAAATAAATACTTAGTAATGACACAGCTACATTTGTTTTAAAATAACTTCTGTGGTTTGGCTACAGGAACTAATGACCATTGATTAATTAAATGTGTGCATATTTCAAAATATTTTTAAAAAGTACAAAAAGAACCTTGCAATACCTAAAAGTATAACAAATTCACAAAATGC... | AATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATGGTGCCATTACACTCCAGCCCGGGTGATAGAGCGAGACTCCATCTCAGAAAATAAATAAATAAATAAATAAATAAATAAATACTTAGTAATGACACAGCTACATTTGTTTTAAAATAACTTCTGTGGTTTGGCTACAGGAACTAATGACCATTGATTAATTAAATGTGTGCATATTTCAAAATATTTTTAAAAAGTACAAAAAGAACCTTGCAATACCTAAAAGTATAACAAATTCACAAAATGC... | pathogenic | 80,684 |
Does the chromosome 4 mutation at position 16000573 within gene PROM1 (prominin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Retinitis_pigmentosa_41'] | TTTACACTAACATACATACTAATATAATAAAATTAATATTCTGTTGAATGTATTTTGGAAATTTTTCATAACATTATTTTTCTGGTTGATTTCCAACTTATAACTAGAAAATAATAGTATAATTGGAATAAATCAATTTATTATATTTATTGATGGGTAGCATCAATCAAAATTATTAAAATTACTTTTTTTGAGAACTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCCCCTTCCGGGTTAAAATGATTCTCCAGTCTCAGCCTCCCGAGT... | TTTACACTAACATACATACTAATATAATAAAATTAATATTCTGTTGAATGTATTTTGGAAATTTTTCATAACATTATTTTTCTGGTTGATTTCCAACTTATAACTAGAAAATAATAGTATAATTGGAATAAATCAATTTATTATATTTATTGATGGGTAGCATCAATCAAAATTATTAAAATTACTTTTTTTGAGAACTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGCGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCCCCTTCCGGGTTAAAATGATTCTCCAGTCTCAGCCTCCCGAGT... | pathogenic | 80,689 |
Is chromosome 4, position 16006517, gene PROM1 (prominin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TTCGATGAGGGGTGCACCATTTTTCAGAGCAATTTACCCTACCTTTCAAGTAGTTAAAAAAGATGGAAATATAGGTATATATACACACCCCACCAAAACACTAACAAACAACCAAGTTAAATTGTTGTTAAATTTGTAACATTAAACTTAAAATCAATTAAACATTAAAAGTAATGGCAAAAACTGCAATTACTTTTACAGCAACCTAATAATCTTCTGTTTAATGTATTTTTGTGTATCTGTGTACATTTGAACAAGAAGGGAAGACAAATTCATTTTTCCTTGCAGATGTGATTTCTCCTTTTTTTCTTCTCTGTCCA... | TTCGATGAGGGGTGCACCATTTTTCAGAGCAATTTACCCTACCTTTCAAGTAGTTAAAAAAGATGGAAATATAGGTATATATACACACCCCACCAAAACACTAACAAACAACCAAGTTAAATTGTTGTTAAATTTGTAACATTAAACTTAAAATCAATTAAACATTAAAAGTAATGGCAAAAACTGCAATTACTTTTACAGCAACCTAATAATCTTCTGTTTAATGTATTTTTGTGTATCTGTGTACATTTGAACAAGAAGGGAAGACAAATTCATTTTTCCTTGCAGATGTGATTTCTCCTTTTTTTCTTCTCTGTCCA... | benign | 80,692 |
Gene PROM1 (prominin 1) variant at chromosome position 16006637 on chromosome 4: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_retinitis_pigmentosa', 'Cone-rod_dystrophy_12', 'Cone-rod_dystrophy_2', 'PROM1-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_41', 'Stargardt_disease'] | ATTGTTGTTAAATTTGTAACATTAAACTTAAAATCAATTAAACATTAAAAGTAATGGCAAAAACTGCAATTACTTTTACAGCAACCTAATAATCTTCTGTTTAATGTATTTTTGTGTATCTGTGTACATTTGAACAAGAAGGGAAGACAAATTCATTTTTCCTTGCAGATGTGATTTCTCCTTTTTTTCTTCTCTGTCCACAGGTACTTGCAGCTAATCTTTCTTTCTTTCTTTCTTTCTTTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCTCTCTCTCCCTCTCTCTCTCTCTCCCTCCCCCTCTCTCTCTCCCT... | ATTGTTGTTAAATTTGTAACATTAAACTTAAAATCAATTAAACATTAAAAGTAATGGCAAAAACTGCAATTACTTTTACAGCAACCTAATAATCTTCTGTTTAATGTATTTTTGTGTATCTGTGTACATTTGAACAAGAAGGGAAGACAAATTCATTTTTCCTTGCAGATGTGATTTCTCCTTTTTTTCTTCTCTGTCCACAGGTACTTGCAGCTAATCTTTCTTTCTTTCTTTCTTTCTTTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCTCTCTCTCCCTCTCTCTCTCTCTCCCTCCCCCTCTCTCTCTCCCT... | pathogenic | 80,694 |
Mutation found at chromosome 4 position 16009015, gene PROM1 (prominin 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['PROM1-related_disorder', 'Retinal_dystrophy'] | ACGGGTGTCACACAGGGTTCATAAGCACAGCACACTGAGCTTCTCCAAGGCTACTGATGAAAACACCCTTAAGATTTTTATGTTCTTTTAAGGCCTCTGATGTTCTAAGTGCCTATTATAATAATGAAGGCATATGGCTAGATCATGATTAGACTACAGATAAAGAAATACTGGATTCTTTTCCCTGGGCCTTTTTCTAAAATATTTTGTGGTTGCAGAAATATTTGGGGCCACTGTGTTCTTTACTGAACCAGATTACATGGCAGATGCATGGGGTATTTAGAATTTTATGAGCATCCTAAATCAAATGCCTGCAGAAT... | ACGGGTGTCACACAGGGTTCATAAGCACAGCACACTGAGCTTCTCCAAGGCTACTGATGAAAACACCCTTAAGATTTTTATGTTCTTTTAAGGCCTCTGATGTTCTAAGTGCCTATTATAATAATGAAGGCATATGGCTAGATCATGATTAGACTACAGATAAAGAAATACTGGATTCTTTTCCCTGGGCCTTTTTCTAAAATATTTTGTGGTTGCAGAAATATTTGGGGCCACTGTGTTCTTTACTGAACCAGATTACATGGCAGATGCATGGGGTATTTAGAATTTTATGAGCATCCTAAATCAAATGCCTGCAGAAT... | pathogenic | 80,697 |
Considering the genetic mutation at chromosome 4, position 16009020, impacting PROM1 (prominin 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy'] | TGTCACACAGGGTTCATAAGCACAGCACACTGAGCTTCTCCAAGGCTACTGATGAAAACACCCTTAAGATTTTTATGTTCTTTTAAGGCCTCTGATGTTCTAAGTGCCTATTATAATAATGAAGGCATATGGCTAGATCATGATTAGACTACAGATAAAGAAATACTGGATTCTTTTCCCTGGGCCTTTTTCTAAAATATTTTGTGGTTGCAGAAATATTTGGGGCCACTGTGTTCTTTACTGAACCAGATTACATGGCAGATGCATGGGGTATTTAGAATTTTATGAGCATCCTAAATCAAATGCCTGCAGAATGCAAA... | TGTCACACAGGGTTCATAAGCACAGCACACTGAGCTTCTCCAAGGCTACTGATGAAAACACCCTTAAGATTTTTATGTTCTTTTAAGGCCTCTGATGTTCTAAGTGCCTATTATAATAATGAAGGCATATGGCTAGATCATGATTAGACTACAGATAAAGAAATACTGGATTCTTTTCCCTGGGCCTTTTTCTAAAATATTTTGTGGTTGCAGAAATATTTGGGGCCACTGTGTTCTTTACTGAACCAGATTACATGGCAGATGCATGGGGTATTTAGAATTTTATGAGCATCCTAAATCAAATGCCTGCAGAATGCAAA... | pathogenic | 80,698 |
Is the genetic change at chromosome 4, position 16009071, within gene PROM1 (prominin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_41'] | ATGAAAACACCCTTAAGATTTTTATGTTCTTTTAAGGCCTCTGATGTTCTAAGTGCCTATTATAATAATGAAGGCATATGGCTAGATCATGATTAGACTACAGATAAAGAAATACTGGATTCTTTTCCCTGGGCCTTTTTCTAAAATATTTTGTGGTTGCAGAAATATTTGGGGCCACTGTGTTCTTTACTGAACCAGATTACATGGCAGATGCATGGGGTATTTAGAATTTTATGAGCATCCTAAATCAAATGCCTGCAGAATGCAAATCTCAATTTCATAATGGTCCTGCGAGACATTTAGGATAATGGATCCTCAAT... | ATGAAAACACCCTTAAGATTTTTATGTTCTTTTAAGGCCTCTGATGTTCTAAGTGCCTATTATAATAATGAAGGCATATGGCTAGATCATGATTAGACTACAGATAAAGAAATACTGGATTCTTTTCCCTGGGCCTTTTTCTAAAATATTTTGTGGTTGCAGAAATATTTGGGGCCACTGTGTTCTTTACTGAACCAGATTACATGGCAGATGCATGGGGTATTTAGAATTTTATGAGCATCCTAAATCAAATGCCTGCAGAATGCAAATCTCAATTTCATAATGGTCCTGCGAGACATTTAGGATAATGGATCCTCAAT... | pathogenic | 80,699 |
A genetic alteration at chromosome 4, position 16018455, in gene PROM1 (prominin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cone-rod_dystrophy', 'Retinitis_pigmentosa_41'] | GACCCTCCTTGACAAGCACTAATTTTTTGATGTCTGGAGGTCTCTTGCTGTAACCAGCTAAAAAAAAGAGGCAAAGAAATGTAACACAAATGTAATATATATGACTTCACAACTTCAAATACTAAAGATGGTCCAATAAAATTGTAAACAACCTTTTTAAAGTCACTTTTAAAAGCAATGTAGTCAGTGGTTATATTAGTGAGTAATCTGGAATCGTTTTTCCACTTACAGTATTATATATGGATTTGAAGTTCTCTAGCTCCTACCAATACTGGGACGAACATCATATGCCTCCCACATGATGTCCAAGAACATAATAT... | GACCCTCCTTGACAAGCACTAATTTTTTGATGTCTGGAGGTCTCTTGCTGTAACCAGCTAAAAAAAAGAGGCAAAGAAATGTAACACAAATGTAATATATATGACTTCACAACTTCAAATACTAAAGATGGTCCAATAAAATTGTAAACAACCTTTTTAAAGTCACTTTTAAAAGCAATGTAGTCAGTGGTTATATTAGTGAGTAATCTGGAATCGTTTTTCCACTTACAGTATTATATATGGATTTGAAGTTCTCTAGCTCCTACCAATACTGGGACGAACATCATATGCCTCCCACATGATGTCCAAGAACATAATAT... | pathogenic | 80,706 |
Evaluate the clinical significance of the mutation at chromosome 4, position 16025199 in gene PROM1 (prominin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cone-rod_dystrophy_12', 'Retinal_dystrophy', 'Retinal_macular_dystrophy_type_2', 'Retinitis_pigmentosa_41', 'Stargardt_disease_4'] | AAAGAGCACCACCAAGCTATTGCAACACAGTGTCTTGACCTGAACTGTCTGCATGGCCACGGACGGTGGCTCTCCCCAAGCCAGCTCTCAGGGAACAAGAAAAGAGTGAGCAAGCCTGCCAAGCCCAGGGACTCCTGGATGGAACTTTCTTTGGTCATTTTTGCCCACTGCTTACCTGTTGCCATGGACTTAATCTCATCAAGAACAGGGATGATGTTGGGTCTCAGTCGGTCAAGAATTCCGCCTCCTAGCACTGAATTGATACCTACATGCAAATAAGCACAAAGATGGTGAGGGTGGCCTCTGCTCATCTCTCCACC... | AAAGAGCACCACCAAGCTATTGCAACACAGTGTCTTGACCTGAACTGTCTGCATGGCCACGGACGGTGGCTCTCCCCAAGCCAGCTCTCAGGGAACAAGAAAAGAGTGAGCAAGCCTGCCAAGCCCAGGGACTCCTGGATGGAACTTTCTTTGGTCATTTTTGCCCACTGCTTACCTGTTGCCATGGACTTAATCTCATCAAGAACAGGGATGATGTTGGGTCTCAGTCGGTCAAGAATTCCGCCTCCTAGCACTGAATTGATACCTACATGCAAATAAGCACAAAGATGGTGAGGGTGGCCTCTGCTCATCTCTCCACC... | pathogenic | 80,717 |
Does the chromosome 4 mutation at position 16075767 within gene PROM1 (prominin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cone-rod_dystrophy_12', 'Leber_congenital_amaurosis_1', 'Retinitis_pigmentosa_41'] | CTCAGATTACATTAGGATTACAATTCTTCAGTTCCCTCCTTCGGTCTAACAATGTTGTTGCAGTTCAAAACCTTGTAATGCATTGGAAGTTGTGTAAGCTAAAAGACATCTTCGAACTTGATCACCAGAATGAAGACCTTAAAATACATTGCTTTTCCTTATTAAAAAAAAAAGTATGAGGAAACCTTCCAATCAAATCTAAAGGGACCAAAATAGAGCAACATATGGAAAGAGATTATGGGATTAACTAATTACATGATATGCCTTAGAATGAGACACGGGAAGCTTTCCAGTCTTTTTGAGGAAATGATTGTAAATTC... | CTCAGATTACATTAGGATTACAATTCTTCAGTTCCCTCCTTCGGTCTAACAATGTTGTTGCAGTTCAAAACCTTGTAATGCATTGGAAGTTGTGTAAGCTAAAAGACATCTTCGAACTTGATCACCAGAATGAAGACCTTAAAATACATTGCTTTTCCTTATTAAAAAAAAAAGTATGAGGAAACCTTCCAATCAAATCTAAAGGGACCAAAATAGAGCAACATATGGAAAGAGATTATGGGATTAACTAATTACATGATATGCCTTAGAATGAGACACGGGAAGCTTTCCAGTCTTTTTGAGGAAATGATTGTAAATTC... | pathogenic | 80,726 |
Does the variant impacting QDPR (quinoid dihydropteridine reductase) on chromosome 4, position 17486884, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GAGAATCACATGAACCTGGGAGGTAGAGGTTACAGTGTGCTGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAGATAAACACAAAAATTACCATATGGTCGAACAATCCTGCTCCTAGGTATATATCCAAAATCATTGAAAACAGATACACAAACACTTATACATGAATGTTCACAGCGGCAATGCTCACAACAGCCAAAAGGTGGAAACAGCCCAAATGTCTATCAACAGATCAGTAAACAAAATTGCAGTGGATACATATAATGGAATATTATGCCACAAAAAGA... | GAGAATCACATGAACCTGGGAGGTAGAGGTTACAGTGTGCTGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAGATAAACACAAAAATTACCATATGGTCGAACAATCCTGCTCCTAGGTATATATCCAAAATCATTGAAAACAGATACACAAACACTTATACATGAATGTTCACAGCGGCAATGCTCACAACAGCCAAAAGGTGGAAACAGCCCAAATGTCTATCAACAGATCAGTAAACAAAATTGCAGTGGATACATATAATGGAATATTATGCCACAAAAAGA... | benign | 80,777 |
The genetic variant at chromosome 4, position 17490681, affecting gene QDPR (quinoid dihydropteridine reductase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Dihydropteridine_reductase_deficiency'] | AACATTTACATTTGAGTACATCATCCATTTTGACAATTCACCAGCTGAGACTTCGGACCTTCATTAACTAAAAAGTGCTCAGCATTTCCTTCCTGGGAGACTCCCAGTGCCAATCTGTAACCTTCTGGGCCAGCGCTGATGTGTAAAGGTCCAGTCATTCAGGCCCCTACTCTGGGGTTTGAACAAGCTCATATGAGCACATGGGCTCAAAAAACAAAGCGTTGCTAAAACTCTCTAAAGTACTGTCATGTCATGGCCTCATCTCTGGGGACAGGGTAGGGCTTGGTGAGGGAAGGCTCTGAAAGAGACCAGTGCCGTTT... | AACATTTACATTTGAGTACATCATCCATTTTGACAATTCACCAGCTGAGACTTCGGACCTTCATTAACTAAAAAGTGCTCAGCATTTCCTTCCTGGGAGACTCCCAGTGCCAATCTGTAACCTTCTGGGCCAGCGCTGATGTGTAAAGGTCCAGTCATTCAGGCCCCTACTCTGGGGTTTGAACAAGCTCATATGAGCACATGGGCTCAAAAAACAAAGCGTTGCTAAAACTCTCTAAAGTACTGTCATGTCATGGCCTCATCTCTGGGGACAGGGTAGGGCTTGGTGAGGGAAGGCTCTGAAAGAGACCAGTGCCGTTT... | pathogenic | 80,784 |
Evaluate if the mutation on chromosome 4 at position 17501733 in QDPR (quinoid dihydropteridine reductase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['6-Pyruvoyl-tetrahydrobiopterin_synthase_deficiency', 'Dihydropteridine_reductase_deficiency'] | CAAGGCAGGAGCATCACCTGAAGCCAGGAATTTGAGACCAGCCTGGGCATCATAGCGAGACCCTGCTTCTACAAAAAATACAAAAATTAGCCAGGCATGGCAGTGTGTGTCTGCAGTCCCAGCTACTCAGGAGGCCGAGGCAAAGGATTGCTTGAGCCCAGGAGTTCCAAGCTACAGTGAGCTAGATCATACCACTACATTCCAGCCTGGGTGAGACCCTGTCTCTAAAAAAATAAACAACTGAGAAGGGTCCCAAGGTCTCTACCACTTACAAGAGAGTCAAAAAGAGCTCCCCCCACCTTTTTTTTTTTTCTTTTGAG... | CAAGGCAGGAGCATCACCTGAAGCCAGGAATTTGAGACCAGCCTGGGCATCATAGCGAGACCCTGCTTCTACAAAAAATACAAAAATTAGCCAGGCATGGCAGTGTGTGTCTGCAGTCCCAGCTACTCAGGAGGCCGAGGCAAAGGATTGCTTGAGCCCAGGAGTTCCAAGCTACAGTGAGCTAGATCATACCACTACATTCCAGCCTGGGTGAGACCCTGTCTCTAAAAAAATAAACAACTGAGAAGGGTCCCAAGGTCTCTACCACTTACAAGAGAGTCAAAAAGAGCTCCCCCCACCTTTTTTTTTTTTCTTTTGAG... | pathogenic | 80,794 |
Considering the genetic mutation at chromosome 4, position 17504395, impacting QDPR (quinoid dihydropteridine reductase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Dihydropteridine_reductase_deficiency'] | CAACCATTTTACACTTGTTTTAACTCCCCGGCCTTGCCAGAGACATAAGGAAGAACAAATGGTAACATATGTCACACCACCAACTGGGCAACTCGAAGGGCATGTGGTACCTGGTGATCAAAAAAGGATGTCCTCCTGATATAGGAGGGGTTGGTAGGTGATAAACAAGAAATTGCATTTCCCCACTAAAAAAGACTAGGAAAAAAACCTGATGGATCCACATTTATCATTTCTTGCTCCCAAAACATACAAAAAGGTTATCAAGCTGTTTTGCTAACCTGATCACCTCACAAAGCACCACTCTCACATTGACATGTGGG... | CAACCATTTTACACTTGTTTTAACTCCCCGGCCTTGCCAGAGACATAAGGAAGAACAAATGGTAACATATGTCACACCACCAACTGGGCAACTCGAAGGGCATGTGGTACCTGGTGATCAAAAAAGGATGTCCTCCTGATATAGGAGGGGTTGGTAGGTGATAAACAAGAAATTGCATTTCCCCACTAAAAAAGACTAGGAAAAAAACCTGATGGATCCACATTTATCATTTCTTGCTCCCAAAACATACAAAAAGGTTATCAAGCTGTTTTGCTAACCTGATCACCTCACAAAGCACCACTCTCACATTGACATGTGGG... | pathogenic | 80,802 |
Is the chromosome 4, position 17512134 variant in QDPR clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AAAATATAATTCTTCATTTGATTTTCTTTTCAACCACCTGAAAATGTAAAACTATTCTTAACTCTTGGGCTGTACAAAAACAGGTGGCAGACCAGATTCAGCTCACAAAGGATCCCTGTCCTGCAGCAGAGAGGGATGGACTTTAGGATTGGAAATCAGACAGATCAGGTTTGAATCCCAGCTCTGCCAGAGTGGCTTTCTCACTCCGATGCCGGGCAGAGGTTCCCAACAAAAGAGGTTGTTTGTTGATGATTAACAGGGTCAGTGTAAGAATTAAATGAAATGGAAGATGCTAAAGCTCCTGGCACAGGGGATGTTCA... | AAAATATAATTCTTCATTTGATTTTCTTTTCAACCACCTGAAAATGTAAAACTATTCTTAACTCTTGGGCTGTACAAAAACAGGTGGCAGACCAGATTCAGCTCACAAAGGATCCCTGTCCTGCAGCAGAGAGGGATGGACTTTAGGATTGGAAATCAGACAGATCAGGTTTGAATCCCAGCTCTGCCAGAGTGGCTTTCTCACTCCGATGCCGGGCAGAGGTTCCCAACAAAAGAGGTTGTTTGTTGATGATTAACAGGGTCAGTGTAAGAATTAAATGAAATGGAAGATGCTAAAGCTCCTGGCACAGGGGATGTTCA... | benign | 80,816 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 22515678, gene ADGRA3 (adhesion G protein-coupled receptor A3). What disease(s) is it linked to if pathogenic? | benign | GCCTTCCAAGTAGCTGGAATGACAGGCATACGCCACTACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGTCAAGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGGGATCCACCCGCTTTGACCTCACAAAGCCCTGGGATTACAGGTGTGAGCCCACCATGCCCAACCTTAACTTTATTTTCATCTAAAAAGCTTTCAGGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTGGATTGAAATGACATTTCATAGTTACTTATATTTTAACCAGTTTCTAAAAATTGTAGAAAAATAGTTTAATTG... | GCCTTCCAAGTAGCTGGAATGACAGGCATACGCCACTACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGTCAAGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGGGATCCACCCGCTTTGACCTCACAAAGCCCTGGGATTACAGGTGTGAGCCCACCATGCCCAACCTTAACTTTATTTTCATCTAAAAAGCTTTCAGGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTGGATTGAAATGACATTTCATAGTTACTTATATTTTAACCAGTTTCTAAAAATTGTAGAAAAATAGTTTAATTG... | benign | 80,885 |
Variant in gene SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase), located at chromosome 4 position 25123694: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | GAATTCTATGCCCTCAAATTTTAAGCCAGGAGGAATAGAGCTAGAATTCCAAAACCACTGAAAAAGAAAGGGTTAATAATAAAAACCACAGCTGATTTTCTGCATCAGGAATGAAATATTGTAACATATCTATCATTCACATGTGAGTTCATGTAATTTATGTTCAATTAGAATTATTATCTATTCAGCAGCTGAAGCCCAAGAACTGCTGATACACTGCAGATGAGAAAACATTTGCTACTCTCCCAGCTCTGGCCTTTCTTAAGCTAAATGATGATCACAACAATATAGATCACTTGTTCTATAAAACAATTTTGGCT... | GAATTCTATGCCCTCAAATTTTAAGCCAGGAGGAATAGAGCTAGAATTCCAAAACCACTGAAAAAGAAAGGGTTAATAATAAAAACCACAGCTGATTTTCTGCATCAGGAATGAAATATTGTAACATATCTATCATTCACATGTGAGTTCATGTAATTTATGTTCAATTAGAATTATTATCTATTCAGCAGCTGAAGCCCAAGAACTGCTGATACACTGCAGATGAGAAAACATTTGCTACTCTCCCAGCTCTGGCCTTTCTTAAGCTAAATGATGATCACAACAATATAGATCACTTGTTCTATAAAACAATTTTGGCT... | benign | 80,901 |
Considering the genetic mutation at chromosome 4, position 25125756, impacting SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Pontocerebellar_hypoplasia_type_2D'] | CTAATTGTATATTATAACCTGTTAAGGATCACAAGGATTGATGCAGTCTAAGAATGGGAAACTTAACAATCATCAATGGCTAGTTCAGACCAAAGTCTGCTCCTTGACTGAATATTCCCATGAAATTCTCAATTCAAAAATCTCAAGTCTTATCTTTAAACTGCTTGCTTGTACTACAGCCTTATCATTTCTTTCAAATGATCAAGAAGAAACCCTTCGCATGTCATGAAGAAGCATCCTGGTATGTGTCAAGAAGTACATTATCTAGTTTTAAAGCCATTTCTTCAATATCCACATCTTCAGTTTTGTCATAATTGTCA... | CTAATTGTATATTATAACCTGTTAAGGATCACAAGGATTGATGCAGTCTAAGAATGGGAAACTTAACAATCATCAATGGCTAGTTCAGACCAAAGTCTGCTCCTTGACTGAATATTCCCATGAAATTCTCAATTCAAAAATCTCAAGTCTTATCTTTAAACTGCTTGCTTGTACTACAGCCTTATCATTTCTTTCAAATGATCAAGAAGAAACCCTTCGCATGTCATGAAGAAGCATCCTGGTATGTGTCAAGAAGTACATTATCTAGTTTTAAAGCCATTTCTTCAATATCCACATCTTCAGTTTTGTCATAATTGTCA... | pathogenic | 80,908 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 25144773, gene SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Pontocerebellar_hypoplasia_type_2D'] | GAGACCATTGCGTTAAAAAGAAAAACTCAAATTTACAAAATGTCTAATTTATATTACCAATATGCCTTATACTGGATTACTAAATTACAGGCCAGTTCCCATGATTATTATGTCCAAAGTCCAGGAAGTAACTCTTTTAAGAAATATTCTAGAGTCTTTTAAGACTAAAAGTGGCCTGAGATATCAATTGTGTCTTTCACAAATGGGGAAATAAAATCTTTAAAACTTTTCCAGGACGAAACGACTAGTTATAGGAGAGCTAAGAACCACTGAAACAACTAAACTCTCATAGAAGCAGATGACAAGTTTTCCTCATCTAT... | GAGACCATTGCGTTAAAAAGAAAAACTCAAATTTACAAAATGTCTAATTTATATTACCAATATGCCTTATACTGGATTACTAAATTACAGGCCAGTTCCCATGATTATTATGTCCAAAGTCCAGGAAGTAACTCTTTTAAGAAATATTCTAGAGTCTTTTAAGACTAAAAGTGGCCTGAGATATCAATTGTGTCTTTCACAAATGGGGAAATAAAATCTTTAAAACTTTTCCAGGACGAAACGACTAGTTATAGGAGAGCTAAGAACCACTGAAACAACTAAACTCTCATAGAAGCAGATGACAAGTTTTCCTCATCTAT... | pathogenic | 80,914 |
Determine if the mutation at chromosome 4, position 25145102 in gene SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Pontocerebellar_hypoplasia_type_2D'] | TTATCTGACATATGGATCTGTTTTCTTGAAAGATTTGCCACAGTCTTCTCTTGGCTACAACAATCTACGACCATGAATGATTACAATTTGGAGTTTATAAAACCAGAGTTTTATTCTTATTGTATAAAAATTCATTGTCAGACTTACTGAGGTACAATTTGCTCACATAGTAAAATTCGGGATGTCTGTTTTTTAGGTGCCCACTTCTATGAATTTTGACAAATATATACAGTCATGAAACCACTACCACTATCAAGACATGAAACGTTTCATCACCCTAAAAAGTTCCCTCCCCAATCCCTACCCTTTAGCAACCATTA... | TTATCTGACATATGGATCTGTTTTCTTGAAAGATTTGCCACAGTCTTCTCTTGGCTACAACAATCTACGACCATGAATGATTACAATTTGGAGTTTATAAAACCAGAGTTTTATTCTTATTGTATAAAAATTCATTGTCAGACTTACTGAGGTACAATTTGCTCACATAGTAAAATTCGGGATGTCTGTTTTTTAGGTGCCCACTTCTATGAATTTTGACAAATATATACAGTCATGAAACCACTACCACTATCAAGACATGAAACGTTTCATCACCCTAAAAAGTTCCCTCCCCAATCCCTACCCTTTAGCAACCATTA... | pathogenic | 80,919 |
Assess the variant on chromosome 4, position 25145129, impacting SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Inborn_genetic_diseases', 'Pontocerebellar_hypoplasia_type_2D'] | GAAAGATTTGCCACAGTCTTCTCTTGGCTACAACAATCTACGACCATGAATGATTACAATTTGGAGTTTATAAAACCAGAGTTTTATTCTTATTGTATAAAAATTCATTGTCAGACTTACTGAGGTACAATTTGCTCACATAGTAAAATTCGGGATGTCTGTTTTTTAGGTGCCCACTTCTATGAATTTTGACAAATATATACAGTCATGAAACCACTACCACTATCAAGACATGAAACGTTTCATCACCCTAAAAAGTTCCCTCCCCAATCCCTACCCTTTAGCAACCATTAATCTTTCTTCTTTCCTTATATTTTTTA... | GAAAGATTTGCCACAGTCTTCTCTTGGCTACAACAATCTACGACCATGAATGATTACAATTTGGAGTTTATAAAACCAGAGTTTTATTCTTATTGTATAAAAATTCATTGTCAGACTTACTGAGGTACAATTTGCTCACATAGTAAAATTCGGGATGTCTGTTTTTTAGGTGCCCACTTCTATGAATTTTGACAAATATATACAGTCATGAAACCACTACCACTATCAAGACATGAAACGTTTCATCACCCTAAAAAGTTCCCTCCCCAATCCCTACCCTTTAGCAACCATTAATCTTTCTTCTTTCCTTATATTTTTTA... | pathogenic | 80,921 |
Considering the genetic mutation at chromosome 4, position 25155086, impacting SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases'] | TATGTTCATCTGTTACAAGTTTTCTTTTTTTTGTCCAGTTTGCCTCAGACCAAAAACAAGTTATCAATTTGCTTGCTTGAAGTCTTATGAATTAAAAACTCATTTTATCATTCATTTTCACAAACCCTACAAATTGATATAGACATCCTTTTTGTTACTTCAAACTAATCAGATGATGTTTTTAACAAAATAGACCTCTGGGATACACAGAAGTATTTTCTTCATAAAATAAAAGGCACTTTCATATGTGTGTGTTCTAATGAAAATATTCCTTAATAAATAATTTCTTTGAAAATAAGGCTCCATAACATTAAGCTCTA... | TATGTTCATCTGTTACAAGTTTTCTTTTTTTTGTCCAGTTTGCCTCAGACCAAAAACAAGTTATCAATTTGCTTGCTTGAAGTCTTATGAATTAAAAACTCATTTTATCATTCATTTTCACAAACCCTACAAATTGATATAGACATCCTTTTTGTTACTTCAAACTAATCAGATGATGTTTTTAACAAAATAGACCTCTGGGATACACAGAAGTATTTTCTTCATAAAATAAAAGGCACTTTCATATGTGTGTGTTCTAATGAAAATATTCCTTAATAAATAATTTCTTTGAAAATAAGGCTCCATAACATTAAGCTCTA... | pathogenic | 80,923 |
Does the genetic variant at chromosome 4, position 25156134, impacting gene SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Pontocerebellar_hypoplasia_type_2D'] | TGGTAAGTAATGAATAAACCACAAAGCATATGAAAAGTAATCTTAAAATAGAGTTCACAGGCTCATGAATGTAGCAAGGTAAATTTTTAAGAGCATAGTTAAAAAACTGTCTCTTACAATCTGCCTGTAAGATAACAAAAGCCAACATAGAATTCATTATTGCCAAATAATGTAATTCCATGAATTAAAACCAAAGTATAATTTGATGCTACAAGAAAAGCCCAAAGTCAATATAGTGCTTACAAATTATTACCACTTCCATTCAAAATGTTAAAATGAAACAAAAAAAATTGTAGTCAAAAACAGAAATCTGTATTACT... | TGGTAAGTAATGAATAAACCACAAAGCATATGAAAAGTAATCTTAAAATAGAGTTCACAGGCTCATGAATGTAGCAAGGTAAATTTTTAAGAGCATAGTTAAAAAACTGTCTCTTACAATCTGCCTGTAAGATAACAAAAGCCAACATAGAATTCATTATTGCCAAATAATGTAATTCCATGAATTAAAACCAAAGTATAATTTGATGCTACAAGAAAAGCCCAAAGTCAATATAGTGCTTACAAATTATTACCACTTCCATTCAAAATGTTAAAATGAAACAAAAAAAATTGTAGTCAAAAACAGAAATCTGTATTACT... | pathogenic | 80,926 |
The mutation impacting SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase) on chromosome 4 at position 25159110: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAAACACCAGGAGCAATATTTGGCTGTTACAGATATATGTCACAAACTATTAATGATGTGGAACTCTCCTACTTAAATTGAAATAATTTCATCAATTATGCTGTGATAGCTAGTTTCCAAAGACGGCCACCATCAATTCTTTTTCTCCCTATGCCCACATGCTACTCCCACACCAAGAGATGGAGTCTACTTCCTCTCCACTTGAATCTGGGCTGAATTTAGTAACTTGCTTGGCCAGGAAGAATCTAGCAGAAGTAACTGTGTGAAATTTTCATGCTAGGCAAACCTTCAGATGACTAAACTCTCAGCCAGTATCTGAC... | AAAACACCAGGAGCAATATTTGGCTGTTACAGATATATGTCACAAACTATTAATGATGTGGAACTCTCCTACTTAAATTGAAATAATTTCATCAATTATGCTGTGATAGCTAGTTTCCAAAGACGGCCACCATCAATTCTTTTTCTCCCTATGCCCACATGCTACTCCCACACCAAGAGATGGAGTCTACTTCCTCTCCACTTGAATCTGGGCTGAATTTAGTAACTTGCTTGGCCAGGAAGAATCTAGCAGAAGTAACTGTGTGAAATTTTCATGCTAGGCAAACCTTCAGATGACTAAACTCTCAGCCAGTATCTGAC... | benign | 80,933 |
Is the genetic mutation found on chromosome 4 at position 25160508, within the gene SEPSECS, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CACTTAATAATCTAATACACCTTTCCCTGTATCTATTGCAACAGAGGTATTTATAAAATGAGATTCAGTTTAAACACAGTTTAAAACAAAATTTAAAGTTGATAACTATAAATCATTCAAAAAAAAAAAACACTACAAATGTTAGAAAAGAAATATGGAAAGCTATAAACAACCTTAATGGATTTTGAACTCTTACAACCAGATATGTTTATTAGGGTAACCGTTCCTAAGAAAACGTATAGCCTGTGTTAGTCACCCAGAACCTGACAGGGTAACCCCCACTTAGTTTTTACTCTATTGTCTTTGAAAAGCACCTGCTG... | CACTTAATAATCTAATACACCTTTCCCTGTATCTATTGCAACAGAGGTATTTATAAAATGAGATTCAGTTTAAACACAGTTTAAAACAAAATTTAAAGTTGATAACTATAAATCATTCAAAAAAAAAAAACACTACAAATGTTAGAAAAGAAATATGGAAAGCTATAAACAACCTTAATGGATTTTGAACTCTTACAACCAGATATGTTTATTAGGGTAACCGTTCCTAAGAAAACGTATAGCCTGTGTTAGTCACCCAGAACCTGACAGGGTAACCCCCACTTAGTTTTTACTCTATTGTCTTTGAAAAGCACCTGCTG... | benign | 80,937 |
Mutation found at chromosome 4 position 26386337, gene RBPJ (recombination signal binding protein for immunoglobulin kappa J region): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AATGAAAATACTAAAATATTCCAGTCACAGATACTTAATTGCTTGTGAATTATCAATTCATAAACAGTATCTTAGGACAAATGAACAAAATGAACTAAATGGGATCCTATGACTTTTATCATCAAAGTTAATAATCTTGTGGAACATTACAAATACAGTAGAGAAATCTTTAAGTCAAATAAGACTTCATATCCTATAACTGTGTTTATGAACAAGTTACTTAACTGTTTATAATTGTAGTCTTGCTTCAAGGTCTTTTTCAAGTGCTGTGTCTTCACTGTCTCAGAAGTTTACACTTCCTATTTCAGAGGAAATAACAG... | AATGAAAATACTAAAATATTCCAGTCACAGATACTTAATTGCTTGTGAATTATCAATTCATAAACAGTATCTTAGGACAAATGAACAAAATGAACTAAATGGGATCCTATGACTTTTATCATCAAAGTTAATAATCTTGTGGAACATTACAAATACAGTAGAGAAATCTTTAAGTCAAATAAGACTTCATATCCTATAACTGTGTTTATGAACAAGTTACTTAACTGTTTATAATTGTAGTCTTGCTTCAAGGTCTTTTTCAAGTGCTGTGTCTTCACTGTCTCAGAAGTTTACACTTCCTATTTCAGAGGAAATAACAG... | benign | 80,966 |
The mutation impacting WDR19 (WD repeat domain 19) on chromosome 4 at position 39182566: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGCGATTCCCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGTGCCCACCACCATGCACAGCTAATTTTTTGTATTTTAGTAAAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCCTGAACTCCTGACCTCAAGTGAGCCCCCCACCTCGAACTCCCCAAGTGCTGAGATTACAGGCGTGAGCCACTGAGCCTGGCCACCAATACTTCTTTTTGCTGTTTTTTTTGACGGAGTCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCGTTCTCCG... | AGCGATTCCCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGTGCCCACCACCATGCACAGCTAATTTTTTGTATTTTAGTAAAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCCTGAACTCCTGACCTCAAGTGAGCCCCCCACCTCGAACTCCCCAAGTGCTGAGATTACAGGCGTGAGCCACTGAGCCTGGCCACCAATACTTCTTTTTGCTGTTTTTTTTGACGGAGTCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCGTTCTCCG... | benign | 81,035 |
Variant in WDR19 (WD repeat domain 19), chromosome 4, position 39186576—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Asphyxiating_thoracic_dystrophy_5', 'Senior-Loken_syndrome_8'] | ACCATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGGGATTCTCGTGCCTCAGCCTCCCAAGTAGATGGGATTACAGCAAGCGCCACCATGCCCAGCTCATTTTTTGGTAATTTTAGTAGAGACGAGGTTTCGCCATGTTGGCCAGGCGGTGTTTAATTTTGAGCATTGTAAGAGTTTTGTGTTGCCGCACAGACTAAGTCCCGTGTAACAGTATCTAAATTTCATATGCCTAGAAATGGGCATCATTGTTTAATCTATAATTTAACCTAATATTGAAATCTAAATTTTTTCACTGAAACTCATATTCCTAAATG... | ACCATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGGGATTCTCGTGCCTCAGCCTCCCAAGTAGATGGGATTACAGCAAGCGCCACCATGCCCAGCTCATTTTTTGGTAATTTTAGTAGAGACGAGGTTTCGCCATGTTGGCCAGGCGGTGTTTAATTTTGAGCATTGTAAGAGTTTTGTGTTGCCGCACAGACTAAGTCCCGTGTAACAGTATCTAAATTTCATATGCCTAGAAATGGGCATCATTGTTTAATCTATAATTTAACCTAATATTGAAATCTAAATTTTTTCACTGAAACTCATATTCCTAAATG... | pathogenic | 81,039 |
A genetic variant at chromosome 4, position 39205183, affecting gene WDR19 (WD repeat domain 19)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Asphyxiating_thoracic_dystrophy_5', 'Cranioectodermal_dysplasia_4', 'Nephronophthisis_13', 'Senior-Loken_syndrome_8', 'Spermatogenic_failure_72'] | AGGGTCTTGCTCTGAAGTGCAGTGGCATGATCATAGCTCACTGCAGCCTCAAGCTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTACTGAGATTACAGATATGAGCCACCGCACCCATCCTTTAATTAAATTATTGAAATGAACTTTGTTTTGTCTGACTCAACACTCAAGCCAAAACAAATGGATTTCCTTATTGTCTCCCATAGCTAGCTGCTCTGGATAGCTGCAGCATCAGTTTCTGCACACACTCTGGTTTTAGTGTGATCTTTGCTGATGGTCCCTGTAAATTTCCCTTTTCTTCTTTCAAGCT... | AGGGTCTTGCTCTGAAGTGCAGTGGCATGATCATAGCTCACTGCAGCCTCAAGCTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTACTGAGATTACAGATATGAGCCACCGCACCCATCCTTTAATTAAATTATTGAAATGAACTTTGTTTTGTCTGACTCAACACTCAAGCCAAAACAAATGGATTTCCTTATTGTCTCCCATAGCTAGCTGCTCTGGATAGCTGCAGCATCAGTTTCTGCACACACTCTGGTTTTAGTGTGATCTTTGCTGATGGTCCCTGTAAATTTCCCTTTTCTTCTTTCAAGCT... | pathogenic | 81,046 |
Is the chromosome 4, position 39205626 variant in WDR19 (WD repeat domain 19) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Asphyxiating_thoracic_dystrophy_5', 'Cranioectodermal_dysplasia_4', 'Jeune_thoracic_dystrophy', 'Nephronophthisis_13', 'Senior-Loken_syndrome_8', 'Spermatogenic_failure_72', 'WDR19-related_disorder'] | TTAATATTCAGAATGAATTTAAATATTGGGTTTGTTCATAGTGATGATGTTTTTACTCCTTTAGACACAAGTGAGATCAGAGCCTAGCAACATGCAGTTTTTCTTGATGAAGATGGATGACCGAACCTCTGCTGCTGAAAGCATGGTAAGAATTCTAATCAAATCCACGTGCAAATCATTTGGGTAATTTTGTGGAATGTATAATTTACTTTTCTTGGATGACTAAAATAGTGATAAATAAATTAGGTCCATTGACTGTATTTTAAGCCAAGGTAGAGCTAGGTCTTTTAGTCCCTAAAAGTTGTTGTAATTGCTACTGA... | TTAATATTCAGAATGAATTTAAATATTGGGTTTGTTCATAGTGATGATGTTTTTACTCCTTTAGACACAAGTGAGATCAGAGCCTAGCAACATGCAGTTTTTCTTGATGAAGATGGATGACCGAACCTCTGCTGCTGAAAGCATGGTAAGAATTCTAATCAAATCCACGTGCAAATCATTTGGGTAATTTTGTGGAATGTATAATTTACTTTTCTTGGATGACTAAAATAGTGATAAATAAATTAGGTCCATTGACTGTATTTTAAGCCAAGGTAGAGCTAGGTCTTTTAGTCCCTAAAAGTTGTTGTAATTGCTACTGA... | pathogenic | 81,050 |
Benign or pathogenic: chromosome 4, position 39216001, gene WDR19 (WD repeat domain 19) variant? Disease(s) if pathogenic? | pathogenic; ['Asphyxiating_thoracic_dystrophy_5', 'Cranioectodermal_dysplasia_4', 'Nephronophthisis_13', 'Senior-Loken_syndrome_8', 'Spermatogenic_failure_72', 'WDR19-related_disorder'] | AAGGTAAGAGGAAAACACTGGAAGAGAAGAGAAGGAGAAAAGGAGGTTAGGAGGAAAGAAATGTTACAACTATTAGTTCCCAACATTGTACTACACAACTTTCATTTACATCAACTTACTTATTCTTACTACAACCTTATGAAATAATGTTATGCCCGCATTTTTCAGAGCTTTCAACCTGATCCTTCTGATCCAAATTTAATGTTCTTTCTATACTATAATTCACTTCCTTTTGTATGAAAGAACTCTGGGCAGGGGAGAAAGGGAACACATTGTAAAGAGAAACCTGTATCATCTTACAATAATTAATACTACTCAGG... | AAGGTAAGAGGAAAACACTGGAAGAGAAGAGAAGGAGAAAAGGAGGTTAGGAGGAAAGAAATGTTACAACTATTAGTTCCCAACATTGTACTACACAACTTTCATTTACATCAACTTACTTATTCTTACTACAACCTTATGAAATAATGTTATGCCCGCATTTTTCAGAGCTTTCAACCTGATCCTTCTGATCCAAATTTAATGTTCTTTCTATACTATAATTCACTTCCTTTTGTATGAAAGAACTCTGGGCAGGGGAGAAAGGGAACACATTGTAAAGAGAAACCTGTATCATCTTACAATAATTAATACTACTCAGG... | pathogenic | 81,060 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 39231950, gene WDR19 (WD repeat domain 19). What disease(s) is it linked to if pathogenic? | pathogenic; ['Asphyxiating_thoracic_dystrophy_5', 'Cranioectodermal_dysplasia_4', 'Nephronophthisis_13', 'Senior-Loken_syndrome_8', 'Spermatogenic_failure_72'] | ATGCCTTAACACACATATACACCAGCTCCTTTCCTCCTCCCGTGTTCCCTCATCTTTACCCAGGCCCTCACCTGGAATAATGTGTAATGTAACTAACCACTTCCTAACTGCTCTGTCTGCCAATAGCCTTGTAACGATCTCATCTGTTCTCCACACACTTTTGAAGATGTGATTTGATCCTCTTATTTCCCTGCTCAGGATCCTTCAGTGACTTTCTATTGCCTTTACAAACAAATCCATTCCTGGGGGACCTCTATGACCTACTAGGCACTTCATGATTTAACACCAGCTCAACTGTCTCCACTCAAGTCCCTCTCTGT... | ATGCCTTAACACACATATACACCAGCTCCTTTCCTCCTCCCGTGTTCCCTCATCTTTACCCAGGCCCTCACCTGGAATAATGTGTAATGTAACTAACCACTTCCTAACTGCTCTGTCTGCCAATAGCCTTGTAACGATCTCATCTGTTCTCCACACACTTTTGAAGATGTGATTTGATCCTCTTATTTCCCTGCTCAGGATCCTTCAGTGACTTTCTATTGCCTTTACAAACAAATCCATTCCTGGGGGACCTCTATGACCTACTAGGCACTTCATGATTTAACACCAGCTCAACTGTCTCCACTCAAGTCCCTCTCTGT... | pathogenic | 81,081 |
Variant on chromosome 4, at position 39240264, affecting WDR19 (WD repeat domain 19): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CACCTAAGACCCTAGGCCTGTGTTCAATTTCAACAGTCTTGTTTCATTATGCATCCAAGACAGTGATTAGGTCAAAGCAGGGCCAGTCTATCAGGTCTGGGTGAGATTTAACTTACTAAAGTCTGGGATTAAACTAATGAGTTAGTTCCATATGAGAGCTTCAAAATAAAATAATAAATAATCCAGTGAGCTAAAAACAACATAAAAATAAAGTGAGAGTTCCAAAGTATTAATTTAGCTTGCCCAAGGAAAATCTCAGGCTCCTGTGGAAGGAACTGTCAACTCAATTGATTATATCAGCTGAGCTAGGGATATCTCCT... | CACCTAAGACCCTAGGCCTGTGTTCAATTTCAACAGTCTTGTTTCATTATGCATCCAAGACAGTGATTAGGTCAAAGCAGGGCCAGTCTATCAGGTCTGGGTGAGATTTAACTTACTAAAGTCTGGGATTAAACTAATGAGTTAGTTCCATATGAGAGCTTCAAAATAAAATAATAAATAATCCAGTGAGCTAAAAACAACATAAAAATAAAGTGAGAGTTCCAAAGTATTAATTTAGCTTGCCCAAGGAAAATCTCAGGCTCCTGTGGAAGGAACTGTCAACTCAATTGATTATATCAGCTGAGCTAGGGATATCTCCT... | benign | 81,087 |
A genetic alteration at chromosome 4, position 39244504, in gene WDR19 (WD repeat domain 19)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Asphyxiating_thoracic_dystrophy_5', 'Cranioectodermal_dysplasia_4', 'Nephronophthisis_13', 'Senior-Loken_syndrome_8'] | TATTTGGATGTACTATAATTTTTTGTATCCACTACCTTACTGAAGTATAGTTGTGGGGTTTTTTCTATCATCAAAAATACTGCAGGCTAGACACAATGGCTCATGCTAGTGATAACCAGCACTTTGGGAGGCCAAGGTGGGAGGAATGCTTGACACCAGGAGTTCAAGACCAGCTGGACAACAAAGCAAGACCCCCATCTCTACAAATTTATTTGTTTATTTTTCTTTTGGAGATAGTCTTTCACTGTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCCTGGCTCACTGCAACCTTTACCTCTTGGGTTCAAGTGATTC... | TATTTGGATGTACTATAATTTTTTGTATCCACTACCTTACTGAAGTATAGTTGTGGGGTTTTTTCTATCATCAAAAATACTGCAGGCTAGACACAATGGCTCATGCTAGTGATAACCAGCACTTTGGGAGGCCAAGGTGGGAGGAATGCTTGACACCAGGAGTTCAAGACCAGCTGGACAACAAAGCAAGACCCCCATCTCTACAAATTTATTTGTTTATTTTTCTTTTGGAGATAGTCTTTCACTGTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCCTGGCTCACTGCAACCTTTACCTCTTGGGTTCAAGTGATTC... | pathogenic | 81,091 |
Regarding the variant at chromosome 4 and position 39278155, affecting gene WDR19 (WD repeat domain 19): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Asphyxiating_thoracic_dystrophy_5', 'Jeune_thoracic_dystrophy', 'Senior-Loken_syndrome_8'] | GGTACCTGAATCTTGGATCCAGACCTTAGCCCAGGGAGATGACTGGATTGGTAATGACAAATGGAAGCAAATGACACTTCACTGGTAGCTGGGCTTGGGAGCTACCCTCATGGCAGAGAGCTCTAAGCTGGATGGGAGTACATAGAATACTCCTTTTTTTAAGTCTAAGTAGCTTCAGACCAAATCGGTCTGACCCAGAATACCTGCTAGTATGGAGAGTGGGATGGGGAGAAGGTAACTAGAAAATGCAAGATCATGTTTACCCCAACAGCATAGAACCACGCTAGCTGGGGCTCTGGCTGGGAGGAGATGCTAGTCAT... | GGTACCTGAATCTTGGATCCAGACCTTAGCCCAGGGAGATGACTGGATTGGTAATGACAAATGGAAGCAAATGACACTTCACTGGTAGCTGGGCTTGGGAGCTACCCTCATGGCAGAGAGCTCTAAGCTGGATGGGAGTACATAGAATACTCCTTTTTTTAAGTCTAAGTAGCTTCAGACCAAATCGGTCTGACCCAGAATACCTGCTAGTATGGAGAGTGGGATGGGGAGAAGGTAACTAGAAAATGCAAGATCATGTTTACCCCAACAGCATAGAACCACGCTAGCTGGGGCTCTGGCTGGGAGGAGATGCTAGTCAT... | pathogenic | 81,126 |
Does the chromosome 4 mutation at position 39462253 within gene LIAS (lipoic acid synthetase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Lipoic_acid_synthetase_deficiency'] | TGGAGTACATGAAAGTGTGATATATGTTAGTTCCAGAGATTTTCGGGCCGGGTGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGA... | TGGAGTACATGAAAGTGTGATATATGTTAGTTCCAGAGATTTTCGGGCCGGGTGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGA... | pathogenic | 81,175 |
Gene LIAS (lipoic acid synthetase) variant at chromosome 4, position 39465090—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Lipoic_acid_synthetase_deficiency'] | CTATAGGACATGCTCACTACACTCTAATCTTAATATAGAGTTGGGCAGTTTAACAGCCTTTTTTTTTTTTTTTTGAAGACAGGGCATTGCTCTGTTGTCTATGCTGGAGTGCTGTGGTACAATTGCCTTGACCTCCCAGGCTCAAGTGATCCTCTCTCCTCAGCCTTCTGAGTAGCTGGGAGTATAGGTGCACATTACCACGCCTGACTAACTTTGATTTTTTGTAGAGGCAGGATTTCACTATGTTGCCCAGACTGGTTCCAGACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCTTCCCAAAGTGCTGGAATTACAG... | CTATAGGACATGCTCACTACACTCTAATCTTAATATAGAGTTGGGCAGTTTAACAGCCTTTTTTTTTTTTTTTTGAAGACAGGGCATTGCTCTGTTGTCTATGCTGGAGTGCTGTGGTACAATTGCCTTGACCTCCCAGGCTCAAGTGATCCTCTCTCCTCAGCCTTCTGAGTAGCTGGGAGTATAGGTGCACATTACCACGCCTGACTAACTTTGATTTTTTGTAGAGGCAGGATTTCACTATGTTGCCCAGACTGGTTCCAGACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCTTCCCAAAGTGCTGGAATTACAG... | pathogenic | 81,183 |
A genetic alteration at chromosome 4, position 41261701, in gene UCHL1 (ubiquitin C-terminal hydrolase L1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | ATGGGAAATCAGTGTTTCTATAGTGTTAGTACCCTACTCTTTAACTGGGAAGTCCTAACTTATTTATTATATTTTTATTTTTTAGAGACAAGGTCTCAAACTTCTGAGCTCAAGTGATCCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGTGCAAGCCACTGACCCTGGCTCAAGAAATCATAACTTCTAAGGTCTTTAAAGCTAGTTAGTGAAAAGTCCAGATAGGCTTACTAAATTACTATACAGAAAGCTAGCAGATGCTTTGAGGAAATCCGTTTCCTAGTCCGATTCATTTACCAGTCTCTATCCTCCT... | ATGGGAAATCAGTGTTTCTATAGTGTTAGTACCCTACTCTTTAACTGGGAAGTCCTAACTTATTTATTATATTTTTATTTTTTAGAGACAAGGTCTCAAACTTCTGAGCTCAAGTGATCCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGTGCAAGCCACTGACCCTGGCTCAAGAAATCATAACTTCTAAGGTCTTTAAAGCTAGTTAGTGAAAAGTCCAGATAGGCTTACTAAATTACTATACAGAAAGCTAGCAGATGCTTTGAGGAAATCCGTTTCCTAGTCCGATTCATTTACCAGTCTCTATCCTCCT... | benign | 81,227 |
Variant at chromosome 4, position 41261701, gene UCHL1 (ubiquitin C-terminal hydrolase L1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | ATGGGAAATCAGTGTTTCTATAGTGTTAGTACCCTACTCTTTAACTGGGAAGTCCTAACTTATTTATTATATTTTTATTTTTTAGAGACAAGGTCTCAAACTTCTGAGCTCAAGTGATCCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGTGCAAGCCACTGACCCTGGCTCAAGAAATCATAACTTCTAAGGTCTTTAAAGCTAGTTAGTGAAAAGTCCAGATAGGCTTACTAAATTACTATACAGAAAGCTAGCAGATGCTTTGAGGAAATCCGTTTCCTAGTCCGATTCATTTACCAGTCTCTATCCTCCT... | ATGGGAAATCAGTGTTTCTATAGTGTTAGTACCCTACTCTTTAACTGGGAAGTCCTAACTTATTTATTATATTTTTATTTTTTAGAGACAAGGTCTCAAACTTCTGAGCTCAAGTGATCCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGTGCAAGCCACTGACCCTGGCTCAAGAAATCATAACTTCTAAGGTCTTTAAAGCTAGTTAGTGAAAAGTCCAGATAGGCTTACTAAATTACTATACAGAAAGCTAGCAGATGCTTTGAGGAAATCCGTTTCCTAGTCCGATTCATTTACCAGTCTCTATCCTCCT... | benign | 81,228 |
Determine whether the variant at chromosome 4, position 41745774, in gene PHOX2B (paired like homeobox 2B) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TCAAAGACCTGAATTCAAATCCTGCCTTGGCTGCCACTTAGTCCACATATCCACATCCAGATGTGAACACTTTTATCAATGCCCTGGTGTGCTTCTGGGGGACAGAAAAGCATGGACAAGAAGCCTCCCTGCTCTCTCAAGCACTAAATTTTATATTTGGCTGAATTTGGCTGCATGGGTTTAGATGTCCCAACCCACCTGGATTTCCAGAGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAA... | TCAAAGACCTGAATTCAAATCCTGCCTTGGCTGCCACTTAGTCCACATATCCACATCCAGATGTGAACACTTTTATCAATGCCCTGGTGTGCTTCTGGGGGACAGAAAAGCATGGACAAGAAGCCTCCCTGCTCTCTCAAGCACTAAATTTTATATTTGGCTGAATTTGGCTGCATGGGTTTAGATGTCCCAACCCACCTGGATTTCCAGAGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAA... | benign | 81,248 |
Evaluate if the mutation on chromosome 4 at position 41745885 in PHOX2B (paired like homeobox 2B) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Central_hypoventilation_syndrome,_congenital,_1,_with_or_without_Hirschsprung_disease', 'Neuroblastoma,_susceptibility_to,_2'] | ATGGACAAGAAGCCTCCCTGCTCTCTCAAGCACTAAATTTTATATTTGGCTGAATTTGGCTGCATGGGTTTAGATGTCCCAACCCACCTGGATTTCCAGAGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGA... | ATGGACAAGAAGCCTCCCTGCTCTCTCAAGCACTAAATTTTATATTTGGCTGAATTTGGCTGCATGGGTTTAGATGTCCCAACCCACCTGGATTTCCAGAGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGA... | pathogenic | 81,260 |
Classify the chromosome 4 variant at position 41745972 affecting gene PHOX2B (paired like homeobox 2B) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Congenital_central_hypoventilation', 'Hereditary_cancer-predisposing_syndrome', 'PHOX2B-related_disorder'] | CTGGATTTCCAGAGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTC... | CTGGATTTCCAGAGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTC... | pathogenic | 81,274 |
The genetic variant at chromosome 4, position 41745972, affecting gene PHOX2B: benign or pathogenic? Disease name(s) if pathogenic? | benign | CTGGATTTCCAGAGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTC... | CTGGATTTCCAGAGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTC... | benign | 81,275 |
Variant on chromosome 4, at position 41745975, affecting PHOX2B: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Central_hypoventilation_syndrome,_congenital,_1,_with_or_without_Hirschsprung_disease', 'Neuroblastoma,_susceptibility_to,_2', 'PHOX2B-related_disorder'] | GATTTCCAGAGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACA... | GATTTCCAGAGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACA... | pathogenic | 81,276 |
The mutation impacting PHOX2B on chromosome 4 at position 41745975: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Congenital_central_hypoventilation', 'Hereditary_cancer-predisposing_syndrome', 'PHOX2B-related_disorder'] | GATTTCCAGAGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACA... | GATTTCCAGAGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACA... | pathogenic | 81,277 |
Is the chromosome 4, position 41745975 variant in PHOX2B clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GATTTCCAGAGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACA... | GATTTCCAGAGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACA... | benign | 81,278 |
The genetic variant at chromosome 4, position 41745975, affecting gene PHOX2B: benign or pathogenic? Disease name(s) if pathogenic? | benign | GATTTCCAGAGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACA... | GATTTCCAGAGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACA... | benign | 81,279 |
Mutation at chromosome 4, position 41745984, within PHOX2B: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Central_hypoventilation_syndrome,_congenital,_1,_with_or_without_Hirschsprung_disease', 'Congenital_central_hypoventilation', 'Hereditary_cancer-predisposing_syndrome', 'Neuroblastoma,_susceptibility_to,_2', 'PHOX2B-related_disorder'] | AGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTC... | AGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTC... | pathogenic | 81,283 |
Clinical classification of chromosome 4, position 41745984, gene PHOX2B: benign or pathogenic? Disease(s) if pathogenic? | benign | AGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTC... | AGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTC... | benign | 81,284 |
A genetic alteration at chromosome 4, position 41745984, in gene PHOX2B—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTC... | AGCCCAGTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTC... | benign | 81,285 |
Benign or pathogenic: chromosome 4, position 41745990, gene PHOX2B variant? Disease(s) if pathogenic? | benign | GTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTCCAACAG... | GTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTCCAACAG... | benign | 81,288 |
The chromosome 4, position 41745990 genetic variant in gene PHOX2B: benign or pathogenic? If pathogenic, indicate disease(s). | benign | GTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTCCAACAG... | GTGAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTCCAACAG... | benign | 81,289 |
A genetic variant at chromosome 4, position 41745992, affecting gene PHOX2B—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Congenital_central_hypoventilation', 'PHOX2B-related_disorder'] | GAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTCCAACAGGA... | GAGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTCCAACAGGA... | pathogenic | 81,290 |
The mutation impacting PHOX2B on chromosome 4 at position 41745993: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Central_hypoventilation_syndrome,_congenital,_1,_with_or_without_Hirschsprung_disease', 'Congenital_central_hypoventilation', 'Hereditary_cancer-predisposing_syndrome'] | AGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTCCAACAGGAA... | AGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTCCAACAGGAA... | pathogenic | 81,291 |
Clinical significance of chromosome 4, position 41745993, gene PHOX2B: benign or pathogenic? Name the disease(s) if pathogenic. | benign | AGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTCCAACAGGAA... | AGGTTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTCCAACAGGAA... | benign | 81,293 |
A genetic variant on chromosome 4, position 41745996, affects the gene PHOX2B. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Congenital_central_hypoventilation', 'Hereditary_cancer-predisposing_syndrome'] | TTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTCCAACAGGAAAAA... | TTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTCCAACAGGAAAAA... | pathogenic | 81,294 |
Clinically, how would you classify the variant at chromosome 4, position 41745996, gene PHOX2B: benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTCCAACAGGAAAAA... | TTCTTGCTATTTTTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTCCAACAGGAAAAA... | benign | 81,297 |
A genetic alteration at chromosome 4, position 41746008, in gene PHOX2B—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'PHOX2B-related_disorder'] | TTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTCCAACAGGAAAAAAAAAGAAATCAG... | TTTAGCACAATTTCCTTTATCTTCCCTTATCCTTTTAAAAAAAAACTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTCCAACAGGAAAAAAAAAGAAATCAG... | pathogenic | 81,304 |
Is the chromosome 4, position 41746053 variant in PHOX2B (paired like homeobox 2B) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Haddad_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'PHOX2B-related_disorder'] | CTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTCCAACAGGAAAAAAAAAGAAATCAGACAGACATGCACCTGATAACAAAAATATATACCATTGTCTGAACC... | CTTAAAAAAAAAAAAACAATGACCAACCAAAAAAAAAAAAAAAAAAAAAGAATCAAGAAAAAGAAGAGTTCAATTGCTAGACTTGCTTTTTGTTTTTATTATCAACAATCAAGTTAATGGTACACTCTTGGAAAACTATATGCACATGTAGAAATATTTCCCTTTTAAATAGAAGCATTCATTATAACACATATAAATAAATTCAAAAATCTGAAACATAACTTATGACAATTATGTTCACAAACATAGTCCAACAGGAAAAAAAAAGAAATCAGACAGACATGCACCTGATAACAAAAATATATACCATTGTCTGAACC... | pathogenic | 81,326 |
Classify the chromosome 4 variant at position 47031753 affecting gene GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GTAATATATTTTCATGTATGTAATGATGTAAAGATCTACTTTTTTCCCTTATGGATAATAAATTGTCTTGCAACATTTATTGAGTAGCTCATCTTTTCCTACTTCTCTTAAAATAGAGGAGTATTTCTGTGCTCTCTATTTGCTCGTACTATTTTGCTTTTTATCCCTACATGAATTCCATGCCAAAGACAAACTGATTCAGTTTCTATATAGCACAATAATGTCTTGATATCTCAAAGGCAAATGCCCCCATATTCCTTCTCTTTTTTTCTTCTTCTTCTTCCAGGTTTTCTTGGCTTTTATTTACCCCCTCATTCTTC... | GTAATATATTTTCATGTATGTAATGATGTAAAGATCTACTTTTTTCCCTTATGGATAATAAATTGTCTTGCAACATTTATTGAGTAGCTCATCTTTTCCTACTTCTCTTAAAATAGAGGAGTATTTCTGTGCTCTCTATTTGCTCGTACTATTTTGCTTTTTATCCCTACATGAATTCCATGCCAAAGACAAACTGATTCAGTTTCTATATAGCACAATAATGTCTTGATATCTCAAAGGCAAATGCCCCCATATTCCTTCTCTTTTTTTCTTCTTCTTCTTCCAGGTTTTCTTGGCTTTTATTTACCCCCTCATTCTTC... | benign | 81,516 |
A genetic variant at chromosome 4, position 47936735, affecting gene CNGA1—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_49'] | AGCAAGACTATAGAGCTTGGGCCAGGGGTCACCAAATCAGAATCCTTGGCTATATCTCTAGCCCAGATGAGAGTCAAAGTATTCACCCTAGTCCTGGATGCTGTAATTAGGGGTGCTTCTTCTTGGGAGCCAGCTCTAAGCCAGGTATGTAACCCTCATTCTCCCTATCTTACCATATCTACCTGGTATGGGTAGCCAGTAAGCCTCTTTACACTGTCTTAGAGGTTTTTATAACAGGCAAGAAATGGCACAGAGAAAAAGAACAAAACGCAGATGAAGAAGTAATAACAAGAACAAGAAGAAAAAGAAAGGAAAAGGAG... | AGCAAGACTATAGAGCTTGGGCCAGGGGTCACCAAATCAGAATCCTTGGCTATATCTCTAGCCCAGATGAGAGTCAAAGTATTCACCCTAGTCCTGGATGCTGTAATTAGGGGTGCTTCTTCTTGGGAGCCAGCTCTAAGCCAGGTATGTAACCCTCATTCTCCCTATCTTACCATATCTACCTGGTATGGGTAGCCAGTAAGCCTCTTTACACTGTCTTAGAGGTTTTTATAACAGGCAAGAAATGGCACAGAGAAAAAGAACAAAACGCAGATGAAGAAGTAATAACAAGAACAAGAAGAAAAAGAAAGGAAAAGGAG... | pathogenic | 81,546 |
The mutation impacting CNGA1 on chromosome 4 at position 47936759: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_49'] | GGGGTCACCAAATCAGAATCCTTGGCTATATCTCTAGCCCAGATGAGAGTCAAAGTATTCACCCTAGTCCTGGATGCTGTAATTAGGGGTGCTTCTTCTTGGGAGCCAGCTCTAAGCCAGGTATGTAACCCTCATTCTCCCTATCTTACCATATCTACCTGGTATGGGTAGCCAGTAAGCCTCTTTACACTGTCTTAGAGGTTTTTATAACAGGCAAGAAATGGCACAGAGAAAAAGAACAAAACGCAGATGAAGAAGTAATAACAAGAACAAGAAGAAAAAGAAAGGAAAAGGAGAACTTGTGTCAGAGAGAAATACGT... | GGGGTCACCAAATCAGAATCCTTGGCTATATCTCTAGCCCAGATGAGAGTCAAAGTATTCACCCTAGTCCTGGATGCTGTAATTAGGGGTGCTTCTTCTTGGGAGCCAGCTCTAAGCCAGGTATGTAACCCTCATTCTCCCTATCTTACCATATCTACCTGGTATGGGTAGCCAGTAAGCCTCTTTACACTGTCTTAGAGGTTTTTATAACAGGCAAGAAATGGCACAGAGAAAAAGAACAAAACGCAGATGAAGAAGTAATAACAAGAACAAGAAGAAAAAGAAAGGAAAAGGAGAACTTGTGTCAGAGAGAAATACGT... | pathogenic | 81,547 |
Clinically, how would you classify the variant at chromosome 4, position 47937154, gene CNGA1: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['CNGA1-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa_49'] | TGAATGGAAACACAGGACTTCAAAGACATAATGTATAGTTCAATGGATATTCTACTGGTACAATAGAATAAAATATGCCATCAGCATACCCCAAGCAAGGTCTGTTTAAGTATCTGAAATGTCAAATTAACAAGAAGCCATTTTTAATCATGTCATTATAGATAGGGATAGAAATCTTCTAGTGATCTGTGTTAAGAAAGATTTTTTGAGCCACATCTGGGTTCAGCAGAAGATGGCTGATTGATTACCAATGTTTTCCACATCCACACACTTGCCAGATAGTTTCCTTTTCTTTTCTAGGACCATCCTCTCATTAACTC... | TGAATGGAAACACAGGACTTCAAAGACATAATGTATAGTTCAATGGATATTCTACTGGTACAATAGAATAAAATATGCCATCAGCATACCCCAAGCAAGGTCTGTTTAAGTATCTGAAATGTCAAATTAACAAGAAGCCATTTTTAATCATGTCATTATAGATAGGGATAGAAATCTTCTAGTGATCTGTGTTAAGAAAGATTTTTTGAGCCACATCTGGGTTCAGCAGAAGATGGCTGATTGATTACCAATGTTTTCCACATCCACACACTTGCCAGATAGTTTCCTTTTCTTTTCTAGGACCATCCTCTCATTAACTC... | pathogenic | 81,553 |
The chromosome 4, position 47937665 genetic variant in gene CNGA1: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Retinitis_pigmentosa_49'] | TGTTAATCGTCCAGAAATATTATTACTTTATCCCTTTTTCTTACTGCTGGCCAGGCAGAGAAGTAAAAAAATAGCCACTGCTGTCAGGTCTTAGTAATCAGAAAAAAATTAAAATTTAATATAAAAGATTCCTAAAACATTTTATGATTTTCAATGTAATATATCTCTATATCTATGTGTGTATATATATATATATTCATAAAGTCTGATTTATCATGCTTTATTGGTAAAAAGTTTCTCTCAACCACTCTTTCTCAGTCCTAGACTACAAAAATAATTGATTTTCCTTAAAATGACCCTGAAGTTCTGCAAGATCCTAA... | TGTTAATCGTCCAGAAATATTATTACTTTATCCCTTTTTCTTACTGCTGGCCAGGCAGAGAAGTAAAAAAATAGCCACTGCTGTCAGGTCTTAGTAATCAGAAAAAAATTAAAATTTAATATAAAAGATTCCTAAAACATTTTATGATTTTCAATGTAATATATCTCTATATCTATGTGTGTATATATATATATATTCATAAAGTCTGATTTATCATGCTTTATTGGTAAAAAGTTTCTCTCAACCACTCTTTCTCAGTCCTAGACTACAAAAATAATTGATTTTCCTTAAAATGACCCTGAAGTTCTGCAAGATCCTAA... | pathogenic | 81,558 |
The chromosome 4, position 47942055 genetic variant in gene CNGA1: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Retinitis_pigmentosa_49'] | TCCCTTAGACACTTGGGATCTTCCCTCCTATGCTGTTACCATGGGCTTGTGTGTTTTAAACCCAGCATTTCAGCCCTCTGATACATTACACTAGGAAAGGGATTTGCTCCTTCTCCTAAACTGGCTACCAAAGCTACAAATATGACAGGGCATTGTTCCAGGATACTAGTATTTAGAGAATGTTCAATTTTACGTAATGATTCTTAAAAGGTTATAGTCTGTGTATAATGGTTACATTTGCATGTGAGAGTGTAGAAACAATTAGCTTCTACCTACTTAACAGAAATACTTCAGAAGCTATCCCCTCTGGTCAATAATAT... | TCCCTTAGACACTTGGGATCTTCCCTCCTATGCTGTTACCATGGGCTTGTGTGTTTTAAACCCAGCATTTCAGCCCTCTGATACATTACACTAGGAAAGGGATTTGCTCCTTCTCCTAAACTGGCTACCAAAGCTACAAATATGACAGGGCATTGTTCCAGGATACTAGTATTTAGAGAATGTTCAATTTTACGTAATGATTCTTAAAAGGTTATAGTCTGTGTATAATGGTTACATTTGCATGTGAGAGTGTAGAAACAATTAGCTTCTACCTACTTAACAGAAATACTTCAGAAGCTATCCCCTCTGGTCAATAATAT... | pathogenic | 81,562 |
Determine whether the variant at chromosome 4, position 47942057, in gene CNGA1 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Retinitis_pigmentosa_49'] | CCTTAGACACTTGGGATCTTCCCTCCTATGCTGTTACCATGGGCTTGTGTGTTTTAAACCCAGCATTTCAGCCCTCTGATACATTACACTAGGAAAGGGATTTGCTCCTTCTCCTAAACTGGCTACCAAAGCTACAAATATGACAGGGCATTGTTCCAGGATACTAGTATTTAGAGAATGTTCAATTTTACGTAATGATTCTTAAAAGGTTATAGTCTGTGTATAATGGTTACATTTGCATGTGAGAGTGTAGAAACAATTAGCTTCTACCTACTTAACAGAAATACTTCAGAAGCTATCCCCTCTGGTCAATAATATCT... | CCTTAGACACTTGGGATCTTCCCTCCTATGCTGTTACCATGGGCTTGTGTGTTTTAAACCCAGCATTTCAGCCCTCTGATACATTACACTAGGAAAGGGATTTGCTCCTTCTCCTAAACTGGCTACCAAAGCTACAAATATGACAGGGCATTGTTCCAGGATACTAGTATTTAGAGAATGTTCAATTTTACGTAATGATTCTTAAAAGGTTATAGTCTGTGTATAATGGTTACATTTGCATGTGAGAGTGTAGAAACAATTAGCTTCTACCTACTTAACAGAAATACTTCAGAAGCTATCCCCTCTGGTCAATAATATCT... | pathogenic | 81,563 |
Classify the chromosome 4 variant at position 47949866 affecting gene CNGA1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_49'] | AGAAGAGGCAGACTGAATGGACATATTATGAGTGTGAGCACAAAGTTTGAAAATCTTTGTTTTTATTTGTCTGTTTTTTGCTCGTAGTGAACATGCCTGTTACAGAGACCAATGCTATGACTCCAAAACAGTGCTTTCTCCTGAGGAAAGTAATCAGTCACTTGATGGCAAGTTAACTAAATTGGACTCCTGACACCATGGAAGGGGCATCAAATATATTGATAAGAACTGACATATATTATGACTATTCATTTGCTTTTTTGCCACAGGGCTTTGACCAGTGCCATTATTTAGGGGCATATGAAGCATGATCACTATAT... | AGAAGAGGCAGACTGAATGGACATATTATGAGTGTGAGCACAAAGTTTGAAAATCTTTGTTTTTATTTGTCTGTTTTTTGCTCGTAGTGAACATGCCTGTTACAGAGACCAATGCTATGACTCCAAAACAGTGCTTTCTCCTGAGGAAAGTAATCAGTCACTTGATGGCAAGTTAACTAAATTGGACTCCTGACACCATGGAAGGGGCATCAAATATATTGATAAGAACTGACATATATTATGACTATTCATTTGCTTTTTTGCCACAGGGCTTTGACCAGTGCCATTATTTAGGGGCATATGAAGCATGATCACTATAT... | pathogenic | 81,568 |
Does the genetic variant at chromosome 4, position 47951397, impacting gene CNGA1, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_49'] | TGCTCCAGGGATCCCCAGAGAATCACATTGTACATCAGCTCTATTCTCTGAAGTTCGACTTCTCCCTCTGCCCAATACTGACCCCCAACTCCCTTCCAGATATTGTTCCCAAGACCATTCCCAACAAACTTCTGCATACAAGCCTCCATCTCAGAAACTGTCTCCTGAGGAAATTCACCTAAGACACATTGGCTCAAACTGGAAAGGAGTAATATTTCCTGACAAAAATTCACTTATTTTTGTCAGTCACTCTATTCACAGAGAAAGTCAACTGCATGAACACTATAGACATGATTTTTTCTACATGTATTCAAATAAAT... | TGCTCCAGGGATCCCCAGAGAATCACATTGTACATCAGCTCTATTCTCTGAAGTTCGACTTCTCCCTCTGCCCAATACTGACCCCCAACTCCCTTCCAGATATTGTTCCCAAGACCATTCCCAACAAACTTCTGCATACAAGCCTCCATCTCAGAAACTGTCTCCTGAGGAAATTCACCTAAGACACATTGGCTCAAACTGGAAAGGAGTAATATTTCCTGACAAAAATTCACTTATTTTTGTCAGTCACTCTATTCACAGAGAAAGTCAACTGCATGAACACTATAGACATGATTTTTTCTACATGTATTCAAATAAAT... | pathogenic | 81,571 |
Variant at chromosome position 49061875, chromosome 4, gene CWH43 (cell wall biogenesis 43 C-terminal homolog): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CAACCTGATTCCTGGGGTAGATGTGTGGGGTTAGGCCTTCAGCCTGAGTCTGCAGGAGCCACCCTGGTGCTGGAATGAACCTGGTGCCTGGATCCATTGGGATAGATCTGGAACCTGGGCCCATGGAGCCTAGGCCTCCTATGTTAAACTCAGTGCTGGGGTCTCCTCCATAGGTGTCCTATGGGCCTGTACTCTGGAATTGGTGGAGCAGGCCTAGATTCTGTTACCTGGGCTGCAGGGACTGGTCTGGAGCTCGGGTGGGTTAAAGCCTGGGTTCACAGGGCCAGTCTAGAACCTGGAACTGGCAATGCTGTCCTGGT... | CAACCTGATTCCTGGGGTAGATGTGTGGGGTTAGGCCTTCAGCCTGAGTCTGCAGGAGCCACCCTGGTGCTGGAATGAACCTGGTGCCTGGATCCATTGGGATAGATCTGGAACCTGGGCCCATGGAGCCTAGGCCTCCTATGTTAAACTCAGTGCTGGGGTCTCCTCCATAGGTGTCCTATGGGCCTGTACTCTGGAATTGGTGGAGCAGGCCTAGATTCTGTTACCTGGGCTGCAGGGACTGGTCTGGAGCTCGGGTGGGTTAAAGCCTGGGTTCACAGGGCCAGTCTAGAACCTGGAACTGGCAATGCTGTCCTGGT... | benign | 81,589 |
Considering the genetic mutation at chromosome 4, position 52027955, impacting SGCB (sarcoglycan beta): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ATGCATGCTTGTGGGGATGGAGAATCTAACTTTTCAATTGTTAAATGTGAGATGCCTATCAGATATCAAAATGGATAATGTTAAGCAGGCAGCTAGATATGTAACTCTTAGTTCAGAGGAGAGGTTAAAGCACAATTCCAAATTTGGGAGGCATCGGCTTACAGAGGGTATTTAAAGCAAAGAGAGAAAATTGGTTATAAATAATGGAGATGGTTAACTGATTATGCAGTGGTAGTATATGGAATAGACAGTAATTCTTAAGTGACTAGTTTTCCAATTTGTTCCAATGCTGCCATCTTGTGGTCATTTAATTTTACTTT... | ATGCATGCTTGTGGGGATGGAGAATCTAACTTTTCAATTGTTAAATGTGAGATGCCTATCAGATATCAAAATGGATAATGTTAAGCAGGCAGCTAGATATGTAACTCTTAGTTCAGAGGAGAGGTTAAAGCACAATTCCAAATTTGGGAGGCATCGGCTTACAGAGGGTATTTAAAGCAAAGAGAGAAAATTGGTTATAAATAATGGAGATGGTTAACTGATTATGCAGTGGTAGTATATGGAATAGACAGTAATTCTTAAGTGACTAGTTTTCCAATTTGTTCCAATGCTGCCATCTTGTGGTCATTTAATTTTACTTT... | benign | 81,599 |
Considering the variant on chromosome 4, location 52028018, involving gene SGCB (sarcoglycan beta), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | TATCAAAATGGATAATGTTAAGCAGGCAGCTAGATATGTAACTCTTAGTTCAGAGGAGAGGTTAAAGCACAATTCCAAATTTGGGAGGCATCGGCTTACAGAGGGTATTTAAAGCAAAGAGAGAAAATTGGTTATAAATAATGGAGATGGTTAACTGATTATGCAGTGGTAGTATATGGAATAGACAGTAATTCTTAAGTGACTAGTTTTCCAATTTGTTCCAATGCTGCCATCTTGTGGTCATTTAATTTTACTTTCTTTAAATTGTTTTTTGTTGTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTT... | TATCAAAATGGATAATGTTAAGCAGGCAGCTAGATATGTAACTCTTAGTTCAGAGGAGAGGTTAAAGCACAATTCCAAATTTGGGAGGCATCGGCTTACAGAGGGTATTTAAAGCAAAGAGAGAAAATTGGTTATAAATAATGGAGATGGTTAACTGATTATGCAGTGGTAGTATATGGAATAGACAGTAATTCTTAAGTGACTAGTTTTCCAATTTGTTCCAATGCTGCCATCTTGTGGTCATTTAATTTTACTTTCTTTAAATTGTTTTTTGTTGTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTT... | pathogenic | 81,602 |
Evaluate this variant at chromosome 4, position 52028063, gene SGCB (sarcoglycan beta): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | TAGTTCAGAGGAGAGGTTAAAGCACAATTCCAAATTTGGGAGGCATCGGCTTACAGAGGGTATTTAAAGCAAAGAGAGAAAATTGGTTATAAATAATGGAGATGGTTAACTGATTATGCAGTGGTAGTATATGGAATAGACAGTAATTCTTAAGTGACTAGTTTTCCAATTTGTTCCAATGCTGCCATCTTGTGGTCATTTAATTTTACTTTCTTTAAATTGTTTTTTGTTGTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTGGGTTCAC... | TAGTTCAGAGGAGAGGTTAAAGCACAATTCCAAATTTGGGAGGCATCGGCTTACAGAGGGTATTTAAAGCAAAGAGAGAAAATTGGTTATAAATAATGGAGATGGTTAACTGATTATGCAGTGGTAGTATATGGAATAGACAGTAATTCTTAAGTGACTAGTTTTCCAATTTGTTCCAATGCTGCCATCTTGTGGTCATTTAATTTTACTTTCTTTAAATTGTTTTTTGTTGTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTGGGTTCAC... | pathogenic | 81,603 |
Evaluate this variant at chromosome 4, position 52028070, gene SGCB (sarcoglycan beta): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | GAGGAGAGGTTAAAGCACAATTCCAAATTTGGGAGGCATCGGCTTACAGAGGGTATTTAAAGCAAAGAGAGAAAATTGGTTATAAATAATGGAGATGGTTAACTGATTATGCAGTGGTAGTATATGGAATAGACAGTAATTCTTAAGTGACTAGTTTTCCAATTTGTTCCAATGCTGCCATCTTGTGGTCATTTAATTTTACTTTCTTTAAATTGTTTTTTGTTGTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTGGGTTCACTGCAATC... | GAGGAGAGGTTAAAGCACAATTCCAAATTTGGGAGGCATCGGCTTACAGAGGGTATTTAAAGCAAAGAGAGAAAATTGGTTATAAATAATGGAGATGGTTAACTGATTATGCAGTGGTAGTATATGGAATAGACAGTAATTCTTAAGTGACTAGTTTTCCAATTTGTTCCAATGCTGCCATCTTGTGGTCATTTAATTTTACTTTCTTTAAATTGTTTTTTGTTGTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTGGGTTCACTGCAATC... | pathogenic | 81,604 |
The mutation in gene SGCB (sarcoglycan beta) at chromosome 4, position 52028752—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | TAACAGTAGAGAAACTGATATGTGTATATGTATATTTCAAAGTATTTAAATATTTGTCATATTAACTACAAGGTAGAATGGGACAAGAAGTGGCAGGTAGAAAAAAATAAAAGGTTTGGTAAGTTGCTAATGGTCTCTAAACAAATCTCTTGCTTCTGTGACTTTCTACTGCTGAGAACAGCAGTTGTACTGTGGCTATTCTTCAACAGTGTTCTTAGAAGAATGGCTTCTTACACCACAATATACATACAAATTAACTCTGTAGGCAACTGAGTTTCTGGCAAGAATTACATTTTATGTCCATCTTTATTATTTAGAGA... | TAACAGTAGAGAAACTGATATGTGTATATGTATATTTCAAAGTATTTAAATATTTGTCATATTAACTACAAGGTAGAATGGGACAAGAAGTGGCAGGTAGAAAAAAATAAAAGGTTTGGTAAGTTGCTAATGGTCTCTAAACAAATCTCTTGCTTCTGTGACTTTCTACTGCTGAGAACAGCAGTTGTACTGTGGCTATTCTTCAACAGTGTTCTTAGAAGAATGGCTTCTTACACCACAATATACATACAAATTAACTCTGTAGGCAACTGAGTTTCTGGCAAGAATTACATTTTATGTCCATCTTTATTATTTAGAGA... | pathogenic | 81,609 |
Is the genetic variant on chromosome 4, position 52028778, gene SGCB (sarcoglycan beta), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | TATGTATATTTCAAAGTATTTAAATATTTGTCATATTAACTACAAGGTAGAATGGGACAAGAAGTGGCAGGTAGAAAAAAATAAAAGGTTTGGTAAGTTGCTAATGGTCTCTAAACAAATCTCTTGCTTCTGTGACTTTCTACTGCTGAGAACAGCAGTTGTACTGTGGCTATTCTTCAACAGTGTTCTTAGAAGAATGGCTTCTTACACCACAATATACATACAAATTAACTCTGTAGGCAACTGAGTTTCTGGCAAGAATTACATTTTATGTCCATCTTTATTATTTAGAGATGGGATTATGTGTTCTGGGGGAAAAA... | TATGTATATTTCAAAGTATTTAAATATTTGTCATATTAACTACAAGGTAGAATGGGACAAGAAGTGGCAGGTAGAAAAAAATAAAAGGTTTGGTAAGTTGCTAATGGTCTCTAAACAAATCTCTTGCTTCTGTGACTTTCTACTGCTGAGAACAGCAGTTGTACTGTGGCTATTCTTCAACAGTGTTCTTAGAAGAATGGCTTCTTACACCACAATATACATACAAATTAACTCTGTAGGCAACTGAGTTTCTGGCAAGAATTACATTTTATGTCCATCTTTATTATTTAGAGATGGGATTATGTGTTCTGGGGGAAAAA... | pathogenic | 81,610 |
Regarding the variant found on chromosome 4 at position 52028783 in gene SGCB (sarcoglycan beta): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | ATATTTCAAAGTATTTAAATATTTGTCATATTAACTACAAGGTAGAATGGGACAAGAAGTGGCAGGTAGAAAAAAATAAAAGGTTTGGTAAGTTGCTAATGGTCTCTAAACAAATCTCTTGCTTCTGTGACTTTCTACTGCTGAGAACAGCAGTTGTACTGTGGCTATTCTTCAACAGTGTTCTTAGAAGAATGGCTTCTTACACCACAATATACATACAAATTAACTCTGTAGGCAACTGAGTTTCTGGCAAGAATTACATTTTATGTCCATCTTTATTATTTAGAGATGGGATTATGTGTTCTGGGGGAAAAACTGCT... | ATATTTCAAAGTATTTAAATATTTGTCATATTAACTACAAGGTAGAATGGGACAAGAAGTGGCAGGTAGAAAAAAATAAAAGGTTTGGTAAGTTGCTAATGGTCTCTAAACAAATCTCTTGCTTCTGTGACTTTCTACTGCTGAGAACAGCAGTTGTACTGTGGCTATTCTTCAACAGTGTTCTTAGAAGAATGGCTTCTTACACCACAATATACATACAAATTAACTCTGTAGGCAACTGAGTTTCTGGCAAGAATTACATTTTATGTCCATCTTTATTATTTAGAGATGGGATTATGTGTTCTGGGGGAAAAACTGCT... | pathogenic | 81,611 |
The chromosome 4, position 52028798 genetic variant in gene SGCB (sarcoglycan beta): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | TAAATATTTGTCATATTAACTACAAGGTAGAATGGGACAAGAAGTGGCAGGTAGAAAAAAATAAAAGGTTTGGTAAGTTGCTAATGGTCTCTAAACAAATCTCTTGCTTCTGTGACTTTCTACTGCTGAGAACAGCAGTTGTACTGTGGCTATTCTTCAACAGTGTTCTTAGAAGAATGGCTTCTTACACCACAATATACATACAAATTAACTCTGTAGGCAACTGAGTTTCTGGCAAGAATTACATTTTATGTCCATCTTTATTATTTAGAGATGGGATTATGTGTTCTGGGGGAAAAACTGCTTATAAAAGTAAAACA... | TAAATATTTGTCATATTAACTACAAGGTAGAATGGGACAAGAAGTGGCAGGTAGAAAAAAATAAAAGGTTTGGTAAGTTGCTAATGGTCTCTAAACAAATCTCTTGCTTCTGTGACTTTCTACTGCTGAGAACAGCAGTTGTACTGTGGCTATTCTTCAACAGTGTTCTTAGAAGAATGGCTTCTTACACCACAATATACATACAAATTAACTCTGTAGGCAACTGAGTTTCTGGCAAGAATTACATTTTATGTCCATCTTTATTATTTAGAGATGGGATTATGTGTTCTGGGGGAAAAACTGCTTATAAAAGTAAAACA... | pathogenic | 81,612 |
Evaluate if the mutation on chromosome 4 at position 52028832 in SGCB (sarcoglycan beta) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | GGACAAGAAGTGGCAGGTAGAAAAAAATAAAAGGTTTGGTAAGTTGCTAATGGTCTCTAAACAAATCTCTTGCTTCTGTGACTTTCTACTGCTGAGAACAGCAGTTGTACTGTGGCTATTCTTCAACAGTGTTCTTAGAAGAATGGCTTCTTACACCACAATATACATACAAATTAACTCTGTAGGCAACTGAGTTTCTGGCAAGAATTACATTTTATGTCCATCTTTATTATTTAGAGATGGGATTATGTGTTCTGGGGGAAAAACTGCTTATAAAAGTAAAACAACTACTTTTAAAAAGTATTTTTCCCAGGAACTAT... | GGACAAGAAGTGGCAGGTAGAAAAAAATAAAAGGTTTGGTAAGTTGCTAATGGTCTCTAAACAAATCTCTTGCTTCTGTGACTTTCTACTGCTGAGAACAGCAGTTGTACTGTGGCTATTCTTCAACAGTGTTCTTAGAAGAATGGCTTCTTACACCACAATATACATACAAATTAACTCTGTAGGCAACTGAGTTTCTGGCAAGAATTACATTTTATGTCCATCTTTATTATTTAGAGATGGGATTATGTGTTCTGGGGGAAAAACTGCTTATAAAAGTAAAACAACTACTTTTAAAAAGTATTTTTCCCAGGAACTAT... | pathogenic | 81,616 |
Determine whether the variant at chromosome 4, position 52028883, in gene SGCB (sarcoglycan beta) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | GGTCTCTAAACAAATCTCTTGCTTCTGTGACTTTCTACTGCTGAGAACAGCAGTTGTACTGTGGCTATTCTTCAACAGTGTTCTTAGAAGAATGGCTTCTTACACCACAATATACATACAAATTAACTCTGTAGGCAACTGAGTTTCTGGCAAGAATTACATTTTATGTCCATCTTTATTATTTAGAGATGGGATTATGTGTTCTGGGGGAAAAACTGCTTATAAAAGTAAAACAACTACTTTTAAAAAGTATTTTTCCCAGGAACTATGAAATTGAAATTTTTTTTAATAAGAAAGAATGATAAGTCCCTACGTTTAAG... | GGTCTCTAAACAAATCTCTTGCTTCTGTGACTTTCTACTGCTGAGAACAGCAGTTGTACTGTGGCTATTCTTCAACAGTGTTCTTAGAAGAATGGCTTCTTACACCACAATATACATACAAATTAACTCTGTAGGCAACTGAGTTTCTGGCAAGAATTACATTTTATGTCCATCTTTATTATTTAGAGATGGGATTATGTGTTCTGGGGGAAAAACTGCTTATAAAAGTAAAACAACTACTTTTAAAAAGTATTTTTCCCAGGAACTATGAAATTGAAATTTTTTTTAATAAGAAAGAATGATAAGTCCCTACGTTTAAG... | pathogenic | 81,618 |
A genetic variant on chromosome 4, position 52029722, affects the gene SGCB (sarcoglycan beta). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | AGAAATAAAAATAAAACAAATAATCTGTTATCTTGCTATCCACAGCTAAACATTGTTGACATTCTGGCACACCCTGCTAGGTTTTTATAAACATACATATGTTCTGAAAAATAAAAATAATGAATTTCACAAATTGTTTTGTAACTTTCTTTTACTTCACAACCCACTTTGAACATCTTTCCATGTCAAAAAATAGACAATTATATCATTTTCAATAATTGTATACTATTCCACATATGGATTTATGTACCCAAGAACCTAATAATTCTCTTAAGCTCTTAAAAGAATACTCACCGCCTTTAACTCCATATTACCACCCA... | AGAAATAAAAATAAAACAAATAATCTGTTATCTTGCTATCCACAGCTAAACATTGTTGACATTCTGGCACACCCTGCTAGGTTTTTATAAACATACATATGTTCTGAAAAATAAAAATAATGAATTTCACAAATTGTTTTGTAACTTTCTTTTACTTCACAACCCACTTTGAACATCTTTCCATGTCAAAAAATAGACAATTATATCATTTTCAATAATTGTATACTATTCCACATATGGATTTATGTACCCAAGAACCTAATAATTCTCTTAAGCTCTTAAAAGAATACTCACCGCCTTTAACTCCATATTACCACCCA... | pathogenic | 81,623 |
Evaluate this variant at chromosome 4, position 52029739, gene SGCB (sarcoglycan beta): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | AAATAATCTGTTATCTTGCTATCCACAGCTAAACATTGTTGACATTCTGGCACACCCTGCTAGGTTTTTATAAACATACATATGTTCTGAAAAATAAAAATAATGAATTTCACAAATTGTTTTGTAACTTTCTTTTACTTCACAACCCACTTTGAACATCTTTCCATGTCAAAAAATAGACAATTATATCATTTTCAATAATTGTATACTATTCCACATATGGATTTATGTACCCAAGAACCTAATAATTCTCTTAAGCTCTTAAAAGAATACTCACCGCCTTTAACTCCATATTACCACCCATGTGAAATTCAATGGTT... | AAATAATCTGTTATCTTGCTATCCACAGCTAAACATTGTTGACATTCTGGCACACCCTGCTAGGTTTTTATAAACATACATATGTTCTGAAAAATAAAAATAATGAATTTCACAAATTGTTTTGTAACTTTCTTTTACTTCACAACCCACTTTGAACATCTTTCCATGTCAAAAAATAGACAATTATATCATTTTCAATAATTGTATACTATTCCACATATGGATTTATGTACCCAAGAACCTAATAATTCTCTTAAGCTCTTAAAAGAATACTCACCGCCTTTAACTCCATATTACCACCCATGTGAAATTCAATGGTT... | pathogenic | 81,624 |
A genetic alteration at chromosome 4, position 52029852, in gene SGCB (sarcoglycan beta)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | AAATTGTTTTGTAACTTTCTTTTACTTCACAACCCACTTTGAACATCTTTCCATGTCAAAAAATAGACAATTATATCATTTTCAATAATTGTATACTATTCCACATATGGATTTATGTACCCAAGAACCTAATAATTCTCTTAAGCTCTTAAAAGAATACTCACCGCCTTTAACTCCATATTACCACCCATGTGAAATTCAATGGTTTTGCCCATAATGAATACACCTTCATTTCCACGCACAATAGCACGCCCATCAACTTTTATATTTAAATCACTGGTAGCATTGCTGGTAATCTGAAAATTTAAAAAACAAGTACT... | AAATTGTTTTGTAACTTTCTTTTACTTCACAACCCACTTTGAACATCTTTCCATGTCAAAAAATAGACAATTATATCATTTTCAATAATTGTATACTATTCCACATATGGATTTATGTACCCAAGAACCTAATAATTCTCTTAAGCTCTTAAAAGAATACTCACCGCCTTTAACTCCATATTACCACCCATGTGAAATTCAATGGTTTTGCCCATAATGAATACACCTTCATTTCCACGCACAATAGCACGCCCATCAACTTTTATATTTAAATCACTGGTAGCATTGCTGGTAATCTGAAAATTTAAAAAACAAGTACT... | pathogenic | 81,633 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 52033507, gene SGCB (sarcoglycan beta). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | TATCTATGAGTTCTTAATTGTTCCTTTTAATTTTTTTTTTTTTTGGTAGAGACAGGGTCTCACTTTATCAGGCATGAGCCACTGTGCCTGGCTTGTGCCTTTTAAATGGCATGTTATTCTTGTTTCATTGATGCAGTATATTCTTATTTCTCTGAAAATACTGAATTTAGGGCTTTTGTTTTTTTGGTAGTTTTTGTGGCATTTTCTCTATTCCATGAGTTTCTATTTTTTCCATGGTTTAGGAGTTTTCATCTCTATCATTTTTCAATTCTTGGCACTTTCCTCAAAAGTCTATTGATCCCTGGCTCAGTATTCATACT... | TATCTATGAGTTCTTAATTGTTCCTTTTAATTTTTTTTTTTTTTGGTAGAGACAGGGTCTCACTTTATCAGGCATGAGCCACTGTGCCTGGCTTGTGCCTTTTAAATGGCATGTTATTCTTGTTTCATTGATGCAGTATATTCTTATTTCTCTGAAAATACTGAATTTAGGGCTTTTGTTTTTTTGGTAGTTTTTGTGGCATTTTCTCTATTCCATGAGTTTCTATTTTTTCCATGGTTTAGGAGTTTTCATCTCTATCATTTTTCAATTCTTGGCACTTTCCTCAAAAGTCTATTGATCCCTGGCTCAGTATTCATACT... | pathogenic | 81,638 |
Chromosome 4, position 52033571, gene SGCB (sarcoglycan beta): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | TTATCAGGCATGAGCCACTGTGCCTGGCTTGTGCCTTTTAAATGGCATGTTATTCTTGTTTCATTGATGCAGTATATTCTTATTTCTCTGAAAATACTGAATTTAGGGCTTTTGTTTTTTTGGTAGTTTTTGTGGCATTTTCTCTATTCCATGAGTTTCTATTTTTTCCATGGTTTAGGAGTTTTCATCTCTATCATTTTTCAATTCTTGGCACTTTCCTCAAAAGTCTATTGATCCCTGGCTCAGTATTCATACTTAGTGATGAATTCATAGAAAATTATTTGAGGGGTAGGGCTTGTGACTGACAGGTGTCACAAGAG... | TTATCAGGCATGAGCCACTGTGCCTGGCTTGTGCCTTTTAAATGGCATGTTATTCTTGTTTCATTGATGCAGTATATTCTTATTTCTCTGAAAATACTGAATTTAGGGCTTTTGTTTTTTTGGTAGTTTTTGTGGCATTTTCTCTATTCCATGAGTTTCTATTTTTTCCATGGTTTAGGAGTTTTCATCTCTATCATTTTTCAATTCTTGGCACTTTCCTCAAAAGTCTATTGATCCCTGGCTCAGTATTCATACTTAGTGATGAATTCATAGAAAATTATTTGAGGGGTAGGGCTTGTGACTGACAGGTGTCACAAGAG... | pathogenic | 81,639 |
Mutation found at chromosome 4 position 52033587, gene SGCB (sarcoglycan beta): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | ACTGTGCCTGGCTTGTGCCTTTTAAATGGCATGTTATTCTTGTTTCATTGATGCAGTATATTCTTATTTCTCTGAAAATACTGAATTTAGGGCTTTTGTTTTTTTGGTAGTTTTTGTGGCATTTTCTCTATTCCATGAGTTTCTATTTTTTCCATGGTTTAGGAGTTTTCATCTCTATCATTTTTCAATTCTTGGCACTTTCCTCAAAAGTCTATTGATCCCTGGCTCAGTATTCATACTTAGTGATGAATTCATAGAAAATTATTTGAGGGGTAGGGCTTGTGACTGACAGGTGTCACAAGAGGGAAATTACATGGCTT... | ACTGTGCCTGGCTTGTGCCTTTTAAATGGCATGTTATTCTTGTTTCATTGATGCAGTATATTCTTATTTCTCTGAAAATACTGAATTTAGGGCTTTTGTTTTTTTGGTAGTTTTTGTGGCATTTTCTCTATTCCATGAGTTTCTATTTTTTCCATGGTTTAGGAGTTTTCATCTCTATCATTTTTCAATTCTTGGCACTTTCCTCAAAAGTCTATTGATCCCTGGCTCAGTATTCATACTTAGTGATGAATTCATAGAAAATTATTTGAGGGGTAGGGCTTGTGACTGACAGGTGTCACAAGAGGGAAATTACATGGCTT... | pathogenic | 81,641 |
Is the genetic change at chromosome 4, position 52033637, within gene SGCB (sarcoglycan beta) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | ATGCAGTATATTCTTATTTCTCTGAAAATACTGAATTTAGGGCTTTTGTTTTTTTGGTAGTTTTTGTGGCATTTTCTCTATTCCATGAGTTTCTATTTTTTCCATGGTTTAGGAGTTTTCATCTCTATCATTTTTCAATTCTTGGCACTTTCCTCAAAAGTCTATTGATCCCTGGCTCAGTATTCATACTTAGTGATGAATTCATAGAAAATTATTTGAGGGGTAGGGCTTGTGACTGACAGGTGTCACAAGAGGGAAATTACATGGCTTTTTCACCGGGACTTGCCAAATGACAGTATCTTCAGATCTTTTTTCTATAT... | ATGCAGTATATTCTTATTTCTCTGAAAATACTGAATTTAGGGCTTTTGTTTTTTTGGTAGTTTTTGTGGCATTTTCTCTATTCCATGAGTTTCTATTTTTTCCATGGTTTAGGAGTTTTCATCTCTATCATTTTTCAATTCTTGGCACTTTCCTCAAAAGTCTATTGATCCCTGGCTCAGTATTCATACTTAGTGATGAATTCATAGAAAATTATTTGAGGGGTAGGGCTTGTGACTGACAGGTGTCACAAGAGGGAAATTACATGGCTTTTTCACCGGGACTTGCCAAATGACAGTATCTTCAGATCTTTTTTCTATAT... | pathogenic | 81,644 |
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