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 |
|---|---|---|---|---|---|
Mutation found at chromosome 1 position 1040717, gene AGRN (agrin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_8'] | TGGTGCAGGGAGGTGACTGGGTCCTTGGCCATGGGGTTGGGACCTGGGGGGAACCATTGGTCCACAGGTCCAGCCGAAGCCCAGGAGAACAGCTGGCTGGGCATCAGCAGGTGCCCGTTGGATTTGGACTGGGAGTCCCAGGGCCTTGGACAAGGCAGGGCCAAAGGGAGAGGGAGATGCTGAGGGGAGAGAGAAGGGGAACCAGAAGGGAAGTGAAAGGGCCAGGGGTGCATGTGGTTTGAGTTTGATTTGAGCCAGGACGGGGGAAGGCCAGTGGTGATGACAGCCCTCATGACTATACTTACAGTGGCAGCAGACGG... | TGGTGCAGGGAGGTGACTGGGTCCTTGGCCATGGGGTTGGGACCTGGGGGGAACCATTGGTCCACAGGTCCAGCCGAAGCCCAGGAGAACAGCTGGCTGGGCATCAGCAGGTGCCCGTTGGATTTGGACTGGGAGTCCCAGGGCCTTGGACAAGGCAGGGCCAAAGGGAGAGGGAGATGCTGAGGGGAGAGAGAAGGGGAACCAGAAGGGAAGTGAAAGGGCCAGGGGTGCATGTGGTTTGAGTTTGATTTGAGCCAGGACGGGGGAAGGCCAGTGGTGATGACAGCCCTCATGACTATACTTACAGTGGCAGCAGACGG... | pathogenic | 67 |
Evaluate if the mutation on chromosome 1 at position 1040819 in AGRN is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Congenital_myasthenic_syndrome_8'] | ATCAGCAGGTGCCCGTTGGATTTGGACTGGGAGTCCCAGGGCCTTGGACAAGGCAGGGCCAAAGGGAGAGGGAGATGCTGAGGGGAGAGAGAAGGGGAACCAGAAGGGAAGTGAAAGGGCCAGGGGTGCATGTGGTTTGAGTTTGATTTGAGCCAGGACGGGGGAAGGCCAGTGGTGATGACAGCCCTCATGACTATACTTACAGTGGCAGCAGACGGGCCACATAGCGCTGTGTGCTGGGCACCCTCTAAGCTTTGCAGATACTGGCCCATTTAACCCCACAATCCTGGGAGGTAGGTCCTATTGCTCCTATTCACCGA... | ATCAGCAGGTGCCCGTTGGATTTGGACTGGGAGTCCCAGGGCCTTGGACAAGGCAGGGCCAAAGGGAGAGGGAGATGCTGAGGGGAGAGAGAAGGGGAACCAGAAGGGAAGTGAAAGGGCCAGGGGTGCATGTGGTTTGAGTTTGATTTGAGCCAGGACGGGGGAAGGCCAGTGGTGATGACAGCCCTCATGACTATACTTACAGTGGCAGCAGACGGGCCACATAGCGCTGTGTGCTGGGCACCCTCTAAGCTTTGCAGATACTGGCCCATTTAACCCCACAATCCTGGGAGGTAGGTCCTATTGCTCCTATTCACCGA... | pathogenic | 69 |
A genetic variant on chromosome 1, position 1041678, affects the gene AGRN (agrin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Congenital_myasthenic_syndrome_8', 'Presynaptic_congenital_myasthenic_syndrome'] | GTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATT... | GTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATT... | pathogenic | 80 |
A genetic variant at chromosome 1, position 1043223, affecting gene AGRN (agrin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCC... | TCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCC... | benign | 90 |
Clinical classification of chromosome 1, position 1048791, gene AGRN (agrin): benign or pathogenic? Disease(s) if pathogenic? | benign | GGGATCAAGGACTTGGGGTGGGTGGGCAGGCGCCGAGAGGCTCCACCAGAGCCTGGGCTCAGAGCGCGTCTCCCCAGGGCTCGAGCCCTTGGAGGGCAGCAGCGTGGCCACCCCTGGGCCACCTGTCGAGAGGGCTTCCTGCTACAACTCCGCGTTGGGCTGCTGCTCTGATGGGAAGACGCCCTCGCTGGACGCAGAGGGCTCCAACTGCCCCGGTGAGTGGACGGCTGGGCGAGGGGAGTGTGAGGATAGCCTGGGCTCGGCCGAGGTGCTGCCCCCTCGCCTGGGCAGCAGGTCAGTGCCGGGGGTTATGGTCTTGG... | GGGATCAAGGACTTGGGGTGGGTGGGCAGGCGCCGAGAGGCTCCACCAGAGCCTGGGCTCAGAGCGCGTCTCCCCAGGGCTCGAGCCCTTGGAGGGCAGCAGCGTGGCCACCCCTGGGCCACCTGTCGAGAGGGCTTCCTGCTACAACTCCGCGTTGGGCTGCTGCTCTGATGGGAAGACGCCCTCGCTGGACGCAGAGGGCTCCAACTGCCCCGGTGAGTGGACGGCTGGGCGAGGGGAGTGTGAGGATAGCCTGGGCTCGGCCGAGGTGCTGCCCCCTCGCCTGGGCAGCAGGTCAGTGCCGGGGGTTATGGTCTTGG... | benign | 166 |
Gene AGRN (agrin) variant at chromosome 1, position 1048977—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Congenital_myasthenic_syndrome_8'] | GCTGGACGCAGAGGGCTCCAACTGCCCCGGTGAGTGGACGGCTGGGCGAGGGGAGTGTGAGGATAGCCTGGGCTCGGCCGAGGTGCTGCCCCCTCGCCTGGGCAGCAGGTCAGTGCCGGGGGTTATGGTCTTGGGACTCGGCCCCCTCAAACATGTGCGTGCCGGGGACCCCACGCCTAACCCGTCTCTCTCGTTGCAAGCCGGTGTGGCACACTGCTCTGAGGAGTCCTCCTGGTAACCGACACCAGCCCCACCCTGGGGTCCCCACTAACCTCATGACCATCTGACTAACATCCACCTTCCCTTGCACCCTTGTGGCT... | GCTGGACGCAGAGGGCTCCAACTGCCCCGGTGAGTGGACGGCTGGGCGAGGGGAGTGTGAGGATAGCCTGGGCTCGGCCGAGGTGCTGCCCCCTCGCCTGGGCAGCAGGTCAGTGCCGGGGGTTATGGTCTTGGGACTCGGCCCCCTCAAACATGTGCGTGCCGGGGACCCCACGCCTAACCCGTCTCTCTCGTTGCAAGCCGGTGTGGCACACTGCTCTGAGGAGTCCTCCTGGTAACCGACACCAGCCCCACCCTGGGGTCCCCACTAACCTCATGACCATCTGACTAACATCCACCTTCCCTTGCACCCTTGTGGCT... | pathogenic | 172 |
Does the variant impacting DVL1 (dishevelled segment polarity protein 1) on chromosome 1, position 1338096, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_dominant_Robinow_syndrome_2'] | TCCTGGCCCCCACGAAGGCAAGCCCACGCGAGCTCTGCATGCGGCAGGACCGCCAGCTCCCCACCTCAGGCAGGGCTGGGGCATGCGCCACGAGTCACATGATGTCCACGAAGAACTCGCAGGGGTTCCCCATAGCCTTCTGGAAGGACTGGCGGCTGCCTGTCAATTCCGGGGGGACGGCAGCCAGCTCCCGGACAGGGGGTCCCCCGGGTGGCCCCCCCACCACTGTATAGGCCTTGGTCGTGGGGTGGGGCGGGGGGAGCCCCGGGGCGGTAGCCGAGGCCTGACTGCGTGGGCTGCTGCCACGGCTGAGCTGGCCG... | TCCTGGCCCCCACGAAGGCAAGCCCACGCGAGCTCTGCATGCGGCAGGACCGCCAGCTCCCCACCTCAGGCAGGGCTGGGGCATGCGCCACGAGTCACATGATGTCCACGAAGAACTCGCAGGGGTTCCCCATAGCCTTCTGGAAGGACTGGCGGCTGCCTGTCAATTCCGGGGGGACGGCAGCCAGCTCCCGGACAGGGGGTCCCCCGGGTGGCCCCCCCACCACTGTATAGGCCTTGGTCGTGGGGTGGGGCGGGGGGAGCCCCGGGGCGGTAGCCGAGGCCTGACTGCGTGGGCTGCTGCCACGGCTGAGCTGGCCG... | pathogenic | 327 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 1338107, gene DVL1 (dishevelled segment polarity protein 1): what disease(s) if pathogenic? | pathogenic; ['Autosomal_dominant_Robinow_syndrome_2'] | ACGAAGGCAAGCCCACGCGAGCTCTGCATGCGGCAGGACCGCCAGCTCCCCACCTCAGGCAGGGCTGGGGCATGCGCCACGAGTCACATGATGTCCACGAAGAACTCGCAGGGGTTCCCCATAGCCTTCTGGAAGGACTGGCGGCTGCCTGTCAATTCCGGGGGGACGGCAGCCAGCTCCCGGACAGGGGGTCCCCCGGGTGGCCCCCCCACCACTGTATAGGCCTTGGTCGTGGGGTGGGGCGGGGGGAGCCCCGGGGCGGTAGCCGAGGCCTGACTGCGTGGGCTGCTGCCACGGCTGAGCTGGCCGGCCGGACGCTC... | ACGAAGGCAAGCCCACGCGAGCTCTGCATGCGGCAGGACCGCCAGCTCCCCACCTCAGGCAGGGCTGGGGCATGCGCCACGAGTCACATGATGTCCACGAAGAACTCGCAGGGGTTCCCCATAGCCTTCTGGAAGGACTGGCGGCTGCCTGTCAATTCCGGGGGGACGGCAGCCAGCTCCCGGACAGGGGGTCCCCCGGGTGGCCCCCCCACCACTGTATAGGCCTTGGTCGTGGGGTGGGGCGGGGGGAGCCCCGGGGCGGTAGCCGAGGCCTGACTGCGTGGGCTGCTGCCACGGCTGAGCTGGCCGGCCGGACGCTC... | pathogenic | 328 |
Gene DVL1 (dishevelled segment polarity protein 1) variant at chromosome 1, position 1341593—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCAC... | TCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCAC... | benign | 354 |
Is the chromosome 1, position 1341659 variant in DVL1 (dishevelled segment polarity protein 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGC... | GTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGC... | benign | 355 |
Clinical classification of chromosome 1, position 1435798, gene VWA1 (von Willebrand factor A domain containing 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Neuromuscular_disease', 'Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7', 'VWA1-related_disorder'] | CCACGTCCCTCCTCCGGGGTGGAGACAGCGGGGGGAGGGCAGGACACAAGAATGAGTCCTGAAGACTGAGGGGCACGGGGAGAGCTGATGGGGAGGGTCTCCTAGCTGGAGGGACTCCAGGCAGAGCCGGGAGCAAGGCAGGTGGCTGAGCTCGGCCCAGGCTGGGTGGAGGCCAGGCCTCCTGTGCCTTCTCCCGCTGATGGCGAGCTGAAGGGAGGAGGGCGGCCGCTTCCTTGAGGGCCTGAGTCACAGCCAAGAAGACCCGCTCACTTTTTCCAGAAGTGAGGGAAACTTCCCCGTCAGCCCTGCAAGGCTGGCTG... | CCACGTCCCTCCTCCGGGGTGGAGACAGCGGGGGGAGGGCAGGACACAAGAATGAGTCCTGAAGACTGAGGGGCACGGGGAGAGCTGATGGGGAGGGTCTCCTAGCTGGAGGGACTCCAGGCAGAGCCGGGAGCAAGGCAGGTGGCTGAGCTCGGCCCAGGCTGGGTGGAGGCCAGGCCTCCTGTGCCTTCTCCCGCTGATGGCGAGCTGAAGGGAGGAGGGCGGCCGCTTCCTTGAGGGCCTGAGTCACAGCCAAGAAGACCCGCTCACTTTTTCCAGAAGTGAGGGAAACTTCCCCGTCAGCCCTGCAAGGCTGGCTG... | pathogenic | 369 |
Mutation found at chromosome 1 position 1437308, gene VWA1 (von Willebrand factor A domain containing 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7'] | TCTGGACGTGTTTTTTTGGTGCCACCGCCAGCCCCTGGGGTTCTCTTGGGCCTGGCTGCTGGGACCCCAGCACCCAGAGTCACGGCAGTGGTGGGCATGGGGAGGGCCTAGCCTGGTACCTCCCTGCTCGGCTCCCGCGGCTGGGGGTCGGAGAGGGGTGGAGAGCGTGGGCCGCACAGCCTCGGCCGGGAGAGGGAGACTGGAGTGTGTGTGTGTGCGTGCCTGCGCGTGCGTGCCTCGGTCGTATCTCGGCTGGTGCTGCGTGTCCCTGCGTGTCGGGGTCCGCTCGTGCGCGCCTCTCCGGGGTCTGTGCGCGTGGC... | TCTGGACGTGTTTTTTTGGTGCCACCGCCAGCCCCTGGGGTTCTCTTGGGCCTGGCTGCTGGGACCCCAGCACCCAGAGTCACGGCAGTGGTGGGCATGGGGAGGGCCTAGCCTGGTACCTCCCTGCTCGGCTCCCGCGGCTGGGGGTCGGAGAGGGGTGGAGAGCGTGGGCCGCACAGCCTCGGCCGGGAGAGGGAGACTGGAGTGTGTGTGTGTGCGTGCCTGCGCGTGCGTGCCTCGGTCGTATCTCGGCTGGTGCTGCGTGTCCCTGCGTGTCGGGGTCCGCTCGTGCGCGCCTCTCCGGGGTCTGTGCGCGTGGC... | pathogenic | 371 |
Is chromosome 1, position 1439536, gene VWA1 (von Willebrand factor A domain containing 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7'] | TGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTG... | TGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTG... | pathogenic | 377 |
The chromosome 1, position 2406525 genetic variant in gene PEX10 (peroxisomal biogenesis factor 10): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)'] | AAAGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATC... | AAAGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATC... | pathogenic | 758 |
Classify the chromosome 1 variant at position 2406527 affecting gene PEX10 (peroxisomal biogenesis factor 10) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder,_complementation_group_7'] | AGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTT... | AGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTT... | pathogenic | 759 |
Variant at chromosome position 2406580, chromosome 1, gene PEX10 (peroxisomal biogenesis factor 10): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B', 'Zellweger_spectrum_disorders'] | GCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTAC... | GCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTAC... | pathogenic | 764 |
Considering the variant on chromosome 1, location 2406599, involving gene PEX10 (peroxisomal biogenesis factor 10), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B'] | GTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAG... | GTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAG... | pathogenic | 765 |
Is chromosome 1, position 2406734, gene PEX10 (peroxisomal biogenesis factor 10) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B'] | TCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCT... | TCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCT... | pathogenic | 771 |
Gene PEX10 (peroxisomal biogenesis factor 10) variant at chromosome 1, position 2406739—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B'] | GCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGC... | GCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGC... | pathogenic | 772 |
Regarding the variant found on chromosome 1 at position 2406791 in gene PEX10 (peroxisomal biogenesis factor 10): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['PEX10-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B', 'Zellweger_spectrum_disorders'] | CACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGT... | CACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGT... | pathogenic | 775 |
Is the genetic variant on chromosome 1, position 2406792, gene PEX10 (peroxisomal biogenesis factor 10), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B'] | ACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTC... | ACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTC... | pathogenic | 776 |
A genetic variant at chromosome 1, position 2406931, affecting gene PEX10 (peroxisomal biogenesis factor 10)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B'] | TTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTG... | TTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTG... | pathogenic | 781 |
Gene PEX10 (peroxisomal biogenesis factor 10) variant at chromosome 1, position 2408464—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)'] | TGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGC... | TGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGC... | pathogenic | 785 |
Evaluate this variant at chromosome 1, position 2408500, gene PEX10 (peroxisomal biogenesis factor 10): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)'] | CACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCC... | CACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCC... | pathogenic | 786 |
Chromosome 1, position 2408555, gene PEX10 (peroxisomal biogenesis factor 10): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Spastic_ataxia'] | TGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGA... | TGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGA... | pathogenic | 788 |
Gene PEX10 (peroxisomal biogenesis factor 10) variant at chromosome position 2408628 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)'] | CAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGT... | CAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGT... | pathogenic | 791 |
Clinical significance of chromosome 1, position 2408635, gene PEX10 (peroxisomal biogenesis factor 10): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)'] | TTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAG... | TTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAG... | pathogenic | 792 |
Does the genetic variant at chromosome 1, position 2408688, impacting gene PEX10 (peroxisomal biogenesis factor 10), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)'] | CGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGG... | CGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGG... | pathogenic | 794 |
Determine whether the variant at chromosome 1, position 2408689, in gene PEX10 (peroxisomal biogenesis factor 10) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)'] | GTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGG... | GTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGG... | pathogenic | 795 |
Evaluate the clinical significance of the mutation at chromosome 1, position 2408713 in gene PEX10 (peroxisomal biogenesis factor 10): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)'] | TCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACA... | TCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACA... | pathogenic | 797 |
Considering the variant on chromosome 1, location 2408756, involving gene PEX10 (peroxisomal biogenesis factor 10), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)'] | CCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCC... | CCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCC... | pathogenic | 800 |
Is the genetic variant on chromosome 1, position 2410405, gene PEX10 (peroxisomal biogenesis factor 10), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Inborn_genetic_diseases', 'Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)'] | AGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGG... | AGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGG... | pathogenic | 804 |
The mutation impacting PEX10 (peroxisomal biogenesis factor 10) on chromosome 1 at position 2412475: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B'] | CTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCT... | CTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCT... | pathogenic | 807 |
Gene PEX10 (peroxisomal biogenesis factor 10) variant at chromosome position 2412476 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B'] | TCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTG... | TCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTG... | pathogenic | 808 |
Does the variant impacting PEX10 (peroxisomal biogenesis factor 10) on chromosome 1, position 2412476, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B'] | TCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTG... | TCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTG... | pathogenic | 810 |
Determine whether the variant at chromosome 1, position 2412494, in gene PEX10 (peroxisomal biogenesis factor 10) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)'] | TCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGG... | TCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGG... | pathogenic | 811 |
Regarding the variant found on chromosome 1 at position 2412498 in gene PEX10 (peroxisomal biogenesis factor 10): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['PEX10-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B', 'Zellweger_spectrum_disorders'] | ACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAG... | ACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAG... | pathogenic | 813 |
Evaluate if the mutation on chromosome 1 at position 3396467 in PRDM16 (PR/SET domain 16) is benign or pathogenic. Disease name(s) if pathogenic? | benign | AGAAGCAGGGAGTGCGGGAGGATGCCCGAGGTCTCACGTCAGGACCCTCGACGGGGGTGGGGTGGAGAGGGAGGTGGTGGGTGGGGTGGGTGGTGCGGCCTGGAGTGGAGCCAAGGGGCGGGCGGCCAGGGTCCACATTGCCCTCTAACGGGACCCCTCGAGAAGCCTCAGCCTCGCCCGCTGACCCTCCTCTCTCCTGCCCAGGGCCCGGGCCAGGCCACCTGCCCCACGGGCATCAGCCAGGCCGGGCAGTCACTCAGCAGCCCCTTCCACTTGCGCCTGCTACAATGCCACTCACGGCACCGCTCAGAGGGTCACCC... | AGAAGCAGGGAGTGCGGGAGGATGCCCGAGGTCTCACGTCAGGACCCTCGACGGGGGTGGGGTGGAGAGGGAGGTGGTGGGTGGGGTGGGTGGTGCGGCCTGGAGTGGAGCCAAGGGGCGGGCGGCCAGGGTCCACATTGCCCTCTAACGGGACCCCTCGAGAAGCCTCAGCCTCGCCCGCTGACCCTCCTCTCTCCTGCCCAGGGCCCGGGCCAGGCCACCTGCCCCACGGGCATCAGCCAGGCCGGGCAGTCACTCAGCAGCCCCTTCCACTTGCGCCTGCTACAATGCCACTCACGGCACCGCTCAGAGGGTCACCC... | benign | 873 |
Regarding the variant at chromosome 1 and position 3402771, affecting gene PRDM16 (PR/SET domain 16): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AACCAGTGCTTTCCTGAGGTTCAGGTCAGTGAGCAGGGCCAGGATGCCTGGACACCGGCTGAGAACGAAATCACAGTGTTTGGTGCATCTTGACCAGCAGTGGTGCCTGCCCACTCACCCCCAATGCACACACCCCTGGGGCTCCTCTCGGCCAGACACCCCTTCCCTGTCAGCCAGATACTTACCTCTGTCCAAAGACGGCACCAAAAATCACATCTGGCAAGCTGGCATCTGTACCTTGGTTGGCAAGGGGTGGGTGGGTGCGTGCCATCCAGTATGCCTGCTGTGGTCTCTTGGGGCCAGCACCCTGCTGGAATCCC... | AACCAGTGCTTTCCTGAGGTTCAGGTCAGTGAGCAGGGCCAGGATGCCTGGACACCGGCTGAGAACGAAATCACAGTGTTTGGTGCATCTTGACCAGCAGTGGTGCCTGCCCACTCACCCCCAATGCACACACCCCTGGGGCTCCTCTCGGCCAGACACCCCTTCCCTGTCAGCCAGATACTTACCTCTGTCCAAAGACGGCACCAAAAATCACATCTGGCAAGCTGGCATCTGTACCTTGGTTGGCAAGGGGTGGGTGGGTGCGTGCCATCCAGTATGCCTGCTGTGGTCTCTTGGGGCCAGCACCCTGCTGGAATCCC... | benign | 879 |
Classify the chromosome 1 variant at position 3403006 affecting gene PRDM16 (PR/SET domain 16) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ACCTTGGTTGGCAAGGGGTGGGTGGGTGCGTGCCATCCAGTATGCCTGCTGTGGTCTCTTGGGGCCAGCACCCTGCTGGAATCCCCACCTTGGGCACCTGAGGCTCAGGGAGCCAGGCTCTGAGGACCCGCCAGGGGTGCTGGGGTGGCCCAGGCCAAATAGCAGCATCTCTACCCTTAGGCTCAGGGAAGCTTCCAGTCAGCAAGGAGGTGCCACTTCTGGTAACCCCTGCACTGCCCAGACTGCAAAGCAGCCCACACTTTCCTTAGGACTCTAAAAGGCCTATGACCGTGGTGGTCTCTCTGACACAGGGAGGGGAC... | ACCTTGGTTGGCAAGGGGTGGGTGGGTGCGTGCCATCCAGTATGCCTGCTGTGGTCTCTTGGGGCCAGCACCCTGCTGGAATCCCCACCTTGGGCACCTGAGGCTCAGGGAGCCAGGCTCTGAGGACCCGCCAGGGGTGCTGGGGTGGCCCAGGCCAAATAGCAGCATCTCTACCCTTAGGCTCAGGGAAGCTTCCAGTCAGCAAGGAGGTGCCACTTCTGGTAACCCCTGCACTGCCCAGACTGCAAAGCAGCCCACACTTTCCTTAGGACTCTAAAAGGCCTATGACCGTGGTGGTCTCTCTGACACAGGGAGGGGAC... | benign | 891 |
Gene PRDM16 (PR/SET domain 16) variant at chromosome position 3411765 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Left_ventricular_noncompaction_8', 'Left_ventricular_noncompaction_cardiomyopathy'] | TGTGTGGTGTGTGTAGTGTGGGTGTGTGTGTGGTGTGGGTGTGAGTGTGTGTGGTTGTGTGTGGGTGTGTGGTGTGGGTGTGTGTGGTGTATGTGTGCATGTGTGTGGTTGTGTGTGGGTGTGTGGTGTGGGTGTGTGTGTGGTGTTTGTGTGCATGTGTGTGGTTGTGTGCATGTGTGTGGTGTGGTTGTGGGTGTGGTGTGTGTGTATGTGCATGTGTGTGGTGTGGGTGTGTGTGCGTGTGGGGGGTGTGGTTGTGTGTTTGCATGGGGGGGTGTGGGGGGTGTGCATGTGTGTGTGCTGTGTGTGCATGTGTGTGA... | TGTGTGGTGTGTGTAGTGTGGGTGTGTGTGTGGTGTGGGTGTGAGTGTGTGTGGTTGTGTGTGGGTGTGTGGTGTGGGTGTGTGTGGTGTATGTGTGCATGTGTGTGGTTGTGTGTGGGTGTGTGGTGTGGGTGTGTGTGTGGTGTTTGTGTGCATGTGTGTGGTTGTGTGCATGTGTGTGGTGTGGTTGTGGGTGTGGTGTGTGTGTATGTGCATGTGTGTGGTGTGGGTGTGTGTGCGTGTGGGGGGTGTGGTTGTGTGTTTGCATGGGGGGGTGTGGGGGGTGTGCATGTGTGTGTGCTGTGTGTGCATGTGTGTGA... | pathogenic | 924 |
Variant at chromosome 1, position 3430950, gene PRDM16 (PR/SET domain 16): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GCACTTGGAGAAAATCACGCAGGGGAGAAGGCCAAGGGAAAATGGAGACAGAGGTCAGGGTGATGCGCCTCCCAGCCAAGGGTCACCTAAGAGGGACAAAGGTCACCAAGGATGGCCAAGGAGGGCCAAGGGTCACATAGGAGGGCCGAAGAGTGCCAAGGTTTGCCAAGGATGGCCAAAGAGGGCCGGCAGCAGCGGGAGCTGGAGAGAGACCAGGGACAGATTCTCCCCCAGAGTCTTGGAAGGAACCCGGCCTGCCCTCGCCTGGATCTTGGACTTCTGGCCTCAGAGCTGTGAAAGCGTCCACGGCTGTTGCTTCA... | GCACTTGGAGAAAATCACGCAGGGGAGAAGGCCAAGGGAAAATGGAGACAGAGGTCAGGGTGATGCGCCTCCCAGCCAAGGGTCACCTAAGAGGGACAAAGGTCACCAAGGATGGCCAAGGAGGGCCAAGGGTCACATAGGAGGGCCGAAGAGTGCCAAGGTTTGCCAAGGATGGCCAAAGAGGGCCGGCAGCAGCGGGAGCTGGAGAGAGACCAGGGACAGATTCTCCCCCAGAGTCTTGGAAGGAACCCGGCCTGCCCTCGCCTGGATCTTGGACTTCTGGCCTCAGAGCTGTGAAAGCGTCCACGGCTGTTGCTTCA... | benign | 1,025 |
Variant on chromosome 1, at position 3825835, affecting CEP104 (centrosomal protein 104): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Intellectual_developmental_disorder,_autosomal_recessive_77', 'Joubert_syndrome_25', 'Joubert_syndrome_and_related_disorders'] | ATCGGGCAGGGGCCACTGTCAAGGATGGGGAAGCTACGGTCGGCCTGAGTGTGAAGCTTGGATGAGGGCGCAGAGTGGCTCAGTGGTTACAGTGTGGCCCAAGGTTGAAATTGTGGCTCCCCACTATTTCTAAGAATGCACACAGAAACAGGACCACAGAAAAGAATTTTAAGAGATTCTCTCGCTACGTTGGTGTCTCTGGCAGGAATGACTTGTATATACTCTATAACTTCAGGCCGCAGGACTTGACACACTGTGAGCCAGTTCAACCTCTTTTCTTCATAAATTACCCAGTCTTAGGGATATATATATTTTTTGAG... | ATCGGGCAGGGGCCACTGTCAAGGATGGGGAAGCTACGGTCGGCCTGAGTGTGAAGCTTGGATGAGGGCGCAGAGTGGCTCAGTGGTTACAGTGTGGCCCAAGGTTGAAATTGTGGCTCCCCACTATTTCTAAGAATGCACACAGAAACAGGACCACAGAAAAGAATTTTAAGAGATTCTCTCGCTACGTTGGTGTCTCTGGCAGGAATGACTTGTATATACTCTATAACTTCAGGCCGCAGGACTTGACACACTGTGAGCCAGTTCAACCTCTTTTCTTCATAAATTACCCAGTCTTAGGGATATATATATTTTTTGAG... | pathogenic | 1,089 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 3837356, gene CEP104 (centrosomal protein 104). What disease(s) is it linked to if pathogenic? | pathogenic; ['Intellectual_developmental_disorder,_autosomal_recessive_77', 'Joubert_syndrome_25', 'Joubert_syndrome_and_related_disorders'] | TTAAAATATAAAAAGTATTAAATTCTCCAAGAGAAATATTTTAAAGCTGAGAACGAGGGAAAACCCTACTCATTTCTTTTTATTTTGAGACAAACTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGGCTCACTGCAACCTCTGTCCCCCTGCGGGTTCAAGCAATTCTCCTGCCTCAGTCTTCCAGCTAGCTGGGATTACAGGTGCCTGACACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTTGGCCT... | TTAAAATATAAAAAGTATTAAATTCTCCAAGAGAAATATTTTAAAGCTGAGAACGAGGGAAAACCCTACTCATTTCTTTTTATTTTGAGACAAACTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGGCTCACTGCAACCTCTGTCCCCCTGCGGGTTCAAGCAATTCTCCTGCCTCAGTCTTCCAGCTAGCTGGGATTACAGGTGCCTGACACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTTGGCCT... | pathogenic | 1,142 |
Gene CEP104 (centrosomal protein 104) variant at chromosome 1, position 3847599—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Joubert_syndrome_25'] | GTGAGCCACCATGCCCTGCTAATTTTTGTGTTTTTTTGCAGAGATAGGATTTCACCATGTTGCCCAGGCTGGACTTAACCCCTTTATAACAAACTCTGACCTACACTGTTATCAAATGGGATGATGTATATCAAAGCGTATTAATTGTTAAAATGTTATGCCAATATAAATAATTTTTAATAATTAACAAAGAATTTTAAATAAATTATGTTAGTATTCTAATGCTAACCAAATGGTTATTTTTAACCATTTAAAGCCTGGGCGCGGTGCCTCATGCCTGTAATCCCATCACTATGGGAGGCCAAGGTGGAAGGATCACC... | GTGAGCCACCATGCCCTGCTAATTTTTGTGTTTTTTTGCAGAGATAGGATTTCACCATGTTGCCCAGGCTGGACTTAACCCCTTTATAACAAACTCTGACCTACACTGTTATCAAATGGGATGATGTATATCAAAGCGTATTAATTGTTAAAATGTTATGCCAATATAAATAATTTTTAATAATTAACAAAGAATTTTAAATAAATTATGTTAGTATTCTAATGCTAACCAAATGGTTATTTTTAACCATTTAAAGCCTGGGCGCGGTGCCTCATGCCTGTAATCCCATCACTATGGGAGGCCAAGGTGGAAGGATCACC... | pathogenic | 1,164 |
Determine if the mutation at chromosome 1, position 5865141 in gene NPHP4 (nephrocystin 4) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4'] | TACTACAAAATGACCAGCGCTCGGTCTCTGCTTCCTCAGCCAAGTGCACAGGTCAGCCAGGTGGGCACTGAAGTGAAAGGCTGCAGAGAGGCGGGGAGGACAGCCTGCAGGGCAGGAGGGGCACAGACAGGCCCCAGCTGGGTGCCGCAGGAAGGACGTCACCCTCAAGCCCTCACTGGTAGATGACCTTCACGCAAAATGCCTCTTCGTTTTTGTCCTCATGGTCATTGATGTAGATCAGGATCTCCTCCTCACCCACTCTCTGACTAGGCGCAAACTGCAAGCCGATGGTGTAGGTCTCTCCACCCCCGACCTGGAAA... | TACTACAAAATGACCAGCGCTCGGTCTCTGCTTCCTCAGCCAAGTGCACAGGTCAGCCAGGTGGGCACTGAAGTGAAAGGCTGCAGAGAGGCGGGGAGGACAGCCTGCAGGGCAGGAGGGGCACAGACAGGCCCCAGCTGGGTGCCGCAGGAAGGACGTCACCCTCAAGCCCTCACTGGTAGATGACCTTCACGCAAAATGCCTCTTCGTTTTTGTCCTCATGGTCATTGATGTAGATCAGGATCTCCTCCTCACCCACTCTCTGACTAGGCGCAAACTGCAAGCCGATGGTGTAGGTCTCTCCACCCCCGACCTGGAAA... | pathogenic | 1,192 |
Does the genetic variant at chromosome 1, position 5866476, impacting gene NPHP4 (nephrocystin 4), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AAAGCGGCTGCCGGCCCTAAGGGGCCTCACGCCAACATGCAGGTCCTGCACCCCACGAGGCGGCAGCACGAAGACACCTTTGGGGTCTGTCTTCAAGAGCGAGAGAGGCGGGTCAGAGCACAGCCTCTCAGGATGTGCAAGCAAGGGGCTCCTGGGCGCCTGCAGCCCAATCAGCCAGGGGAGCCCAAGGTCATGGGTGGTTCCGGGGCGGCCAAATCTGAGGCCACAACCAACCCTGACATGACTGTGGCCGCGACTTGGGTCCACACCAGGCAAGTCCCTCCTCTCACACGGCGACTATTCCCTAAGCGCTGCCTCCG... | AAAGCGGCTGCCGGCCCTAAGGGGCCTCACGCCAACATGCAGGTCCTGCACCCCACGAGGCGGCAGCACGAAGACACCTTTGGGGTCTGTCTTCAAGAGCGAGAGAGGCGGGTCAGAGCACAGCCTCTCAGGATGTGCAAGCAAGGGGCTCCTGGGCGCCTGCAGCCCAATCAGCCAGGGGAGCCCAAGGTCATGGGTGGTTCCGGGGCGGCCAAATCTGAGGCCACAACCAACCCTGACATGACTGTGGCCGCGACTTGGGTCCACACCAGGCAAGTCCCTCCTCTCACACGGCGACTATTCCCTAAGCGCTGCCTCCG... | benign | 1,201 |
A mutation at chromosome position 5867081 on chromosome 1 in gene NPHP4 (nephrocystin 4): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Nephronophthisis', 'Senior-Loken_syndrome_4'] | GAATGCCCACTGCCCGTCTCCAGGCTGGGGTTGGGGAGAGGCTCAGAACAGCCCCCAGAGAGGCCGTACCTTCAGCTCCTGGGGATGAGAGGTGAAAGCTCTCACTTTCCTCACTGTCTGTGTCCCCCGAAGGACAAGGGACAGGCGGGTCAGCTGGCCTGCGACGCAGGAGACATCCACGCGCTGCAGGGAGTGGAGGTAGACCTGCCACGTCTGTGTGGGTGTCGCCAGCCAGCGATCCCTGCAGTGGGATGGGAGCCATCTGCACTTGTCCCGGAGGACTCAGCACCGGCCCACGAGAGGCCAACAAGGGCTGCCAG... | GAATGCCCACTGCCCGTCTCCAGGCTGGGGTTGGGGAGAGGCTCAGAACAGCCCCCAGAGAGGCCGTACCTTCAGCTCCTGGGGATGAGAGGTGAAAGCTCTCACTTTCCTCACTGTCTGTGTCCCCCGAAGGACAAGGGACAGGCGGGTCAGCTGGCCTGCGACGCAGGAGACATCCACGCGCTGCAGGGAGTGGAGGTAGACCTGCCACGTCTGTGTGGGTGTCGCCAGCCAGCGATCCCTGCAGTGGGATGGGAGCCATCTGCACTTGTCCCGGAGGACTCAGCACCGGCCCACGAGAGGCCAACAAGGGCTGCCAG... | pathogenic | 1,204 |
A mutation at chromosome position 5867799 on chromosome 1 in gene NPHP4 (nephrocystin 4): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Nephronophthisis_4', 'Senior-Loken_syndrome_4'] | GGGCTGGGTGAGGCATCTTCATGGGCTCACGAGGAAGCCACTCTGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGG... | GGGCTGGGTGAGGCATCTTCATGGGCTCACGAGGAAGCCACTCTGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGG... | pathogenic | 1,210 |
Does the genetic variant at chromosome 1, position 5867842, impacting gene NPHP4 (nephrocystin 4), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4'] | TGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACA... | TGAGACGTGGTCACGTGGCCCCTCTGTGGTGGGCACTGAGTGCAGGTTAGCCCCTGCCCCATCCTCAGAAGCACTGCAGGAAATCTCCGAGCTCACACCAGTTTGAAAGGATTCTCACAGGGCTTGGGGATCCGACTTAGGAGGGGAGGGGAAAGGGGCCGGGTCATTTAGCCTGGAGGAGAGAGGGATGGGCATTTCCACCACAGTCCTGCCTCTCCGCAGGAGGGACCACAGCTTCATTCATGCTGTTCAGCCTAGGGACTCAGCAAGAAAAAGGTAATGAGGGGCTTCTGGGTGGCCCTTGCCACTATCTGGGGACA... | pathogenic | 1,211 |
Is the chromosome 1, position 5873294 variant in NPHP4 (nephrocystin 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Nephronophthisis'] | TACTTGTTATTTAAAAAAGGCACAGGAGTTAACTTGAAAAGGATGGCGGTGGCCTGAGAGAGGGCAGTTCCAGCGTCTAAGAGCGGTGCCTCCATGGGATGAGAAATACAAATATAACGCCTCGGTGTCCATCATGAGACGCCGCAAACATGGACTGTCTCTGGAGGCTGCTAGGACGCAGCTCATTTATTTGAAAATTGATAAAGGGAATGATTCTAACATTCATCCTCACTTTCAAGTACAAAGTATATTTTAGGGTAACCAAACTGCTGATCGGGAAAGTCCTTGTTTGTAGAAAGATCACAGGAAGAATGACAGGA... | TACTTGTTATTTAAAAAAGGCACAGGAGTTAACTTGAAAAGGATGGCGGTGGCCTGAGAGAGGGCAGTTCCAGCGTCTAAGAGCGGTGCCTCCATGGGATGAGAAATACAAATATAACGCCTCGGTGTCCATCATGAGACGCCGCAAACATGGACTGTCTCTGGAGGCTGCTAGGACGCAGCTCATTTATTTGAAAATTGATAAAGGGAATGATTCTAACATTCATCCTCACTTTCAAGTACAAAGTATATTTTAGGGTAACCAAACTGCTGATCGGGAAAGTCCTTGTTTGTAGAAAGATCACAGGAAGAATGACAGGA... | pathogenic | 1,216 |
Assess the variant on chromosome 1, position 5873294, impacting NPHP4 (nephrocystin 4): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['NPHP4-related_disorder', 'Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4'] | TACTTGTTATTTAAAAAAGGCACAGGAGTTAACTTGAAAAGGATGGCGGTGGCCTGAGAGAGGGCAGTTCCAGCGTCTAAGAGCGGTGCCTCCATGGGATGAGAAATACAAATATAACGCCTCGGTGTCCATCATGAGACGCCGCAAACATGGACTGTCTCTGGAGGCTGCTAGGACGCAGCTCATTTATTTGAAAATTGATAAAGGGAATGATTCTAACATTCATCCTCACTTTCAAGTACAAAGTATATTTTAGGGTAACCAAACTGCTGATCGGGAAAGTCCTTGTTTGTAGAAAGATCACAGGAAGAATGACAGGA... | TACTTGTTATTTAAAAAAGGCACAGGAGTTAACTTGAAAAGGATGGCGGTGGCCTGAGAGAGGGCAGTTCCAGCGTCTAAGAGCGGTGCCTCCATGGGATGAGAAATACAAATATAACGCCTCGGTGTCCATCATGAGACGCCGCAAACATGGACTGTCTCTGGAGGCTGCTAGGACGCAGCTCATTTATTTGAAAATTGATAAAGGGAATGATTCTAACATTCATCCTCACTTTCAAGTACAAAGTATATTTTAGGGTAACCAAACTGCTGATCGGGAAAGTCCTTGTTTGTAGAAAGATCACAGGAAGAATGACAGGA... | pathogenic | 1,217 |
Does the chromosome 1 mutation at position 5873344 within gene NPHP4 (nephrocystin 4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GGCCTGAGAGAGGGCAGTTCCAGCGTCTAAGAGCGGTGCCTCCATGGGATGAGAAATACAAATATAACGCCTCGGTGTCCATCATGAGACGCCGCAAACATGGACTGTCTCTGGAGGCTGCTAGGACGCAGCTCATTTATTTGAAAATTGATAAAGGGAATGATTCTAACATTCATCCTCACTTTCAAGTACAAAGTATATTTTAGGGTAACCAAACTGCTGATCGGGAAAGTCCTTGTTTGTAGAAAGATCACAGGAAGAATGACAGGACTGCAATTTCACCATTTTCCACCCTGGATGGAACACGCAGTGGGCCAGGA... | GGCCTGAGAGAGGGCAGTTCCAGCGTCTAAGAGCGGTGCCTCCATGGGATGAGAAATACAAATATAACGCCTCGGTGTCCATCATGAGACGCCGCAAACATGGACTGTCTCTGGAGGCTGCTAGGACGCAGCTCATTTATTTGAAAATTGATAAAGGGAATGATTCTAACATTCATCCTCACTTTCAAGTACAAAGTATATTTTAGGGTAACCAAACTGCTGATCGGGAAAGTCCTTGTTTGTAGAAAGATCACAGGAAGAATGACAGGACTGCAATTTCACCATTTTCCACCCTGGATGGAACACGCAGTGGGCCAGGA... | benign | 1,219 |
Variant chromosome 1, position 5874463, gene NPHP4 (nephrocystin 4): benign or pathogenic? Disease(s)? | benign | AGGACGCGATGGCTGGGACTTCCCACTCATGTAAGGAAAAAGCGTTAACCTAGAGCACTCAATAAAGATCAGATACATTCCTTAGATCAAGGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGT... | AGGACGCGATGGCTGGGACTTCCCACTCATGTAAGGAAAAAGCGTTAACCTAGAGCACTCAATAAAGATCAGATACATTCCTTAGATCAAGGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGT... | benign | 1,224 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 5874553, gene NPHP4 (nephrocystin 4). What disease(s) is it linked to if pathogenic? | pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4'] | GGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGA... | GGCAAAGCTGTGGCTGCACACTTAAATAAAATAAAGCAAGTTTTCACTGGTGATGGGGCCCGGTGGACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGA... | pathogenic | 1,225 |
Is the chromosome 1, position 5874618 variant in NPHP4 (nephrocystin 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4'] | GACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTC... | GACACAGAGGGCCAGGCTGCAACCACAGTGAGACCCGGGCCACGGGAACGCCACAGCCTCACAGGACTGCGCTGAACTCTGAATTCTGTCCTCCAGGCAATGTGTAAGAAAGACCAAAGCTTTTTAATTTTGTTTTTCACTTCCCAACTACTACAAAAGGCATGTTTCTACCGAATAAAAAACAACCTTCAGAAACTGCCATAAAGCAGCAGTGTCTCAAGCTCCTCCTGAGAATGTCTCAGCCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTC... | pathogenic | 1,228 |
Is the genetic variant on chromosome 1, position 5874860, gene NPHP4 (nephrocystin 4), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCC... | CCAGCTGTTGAGAAGCAGGTGCCTTACTATACGGCCTTCGCTTAGCAAGGGACGTAACCAAGGACTACGTCTTATTTCCAGGAAGAACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCC... | benign | 1,235 |
Does the chromosome 1 mutation at position 5874973 within gene NPHP4 (nephrocystin 4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Nephronophthisis'] | AATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCC... | AATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCC... | pathogenic | 1,238 |
Variant at chromosome 1, position 5875009, gene NPHP4 (nephrocystin 4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4'] | TGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGG... | TGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGG... | pathogenic | 1,240 |
Does the chromosome 1 mutation at position 5904752 within gene NPHP4 (nephrocystin 4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4'] | ACATAGGCATTTAAAACTGTAAATTCCCCTGTAATTACAATTTTACTTGCATCTCCTAAGTTTTGATATGCAATATTATTTTGTCATTCAGTTTTAAATAATTACGCATTTCTATTTTGAGGTCTTCATTGACTCATGGAATAATTAGAAGCACATTTTAAAATTAAAAAAATAAAAGCAGTTCAGAGTGGTTGTAGGGGAGGGAGTGACTGACTTCTGATCTTGTGGCATTATGGCCAGAGAAAGTTATAAAATTAGATTTGATACCGATTCTCTCAGTATAGGGTGATGCCTGCTTGGTGAGCTAAAAAATATATATG... | ACATAGGCATTTAAAACTGTAAATTCCCCTGTAATTACAATTTTACTTGCATCTCCTAAGTTTTGATATGCAATATTATTTTGTCATTCAGTTTTAAATAATTACGCATTTCTATTTTGAGGTCTTCATTGACTCATGGAATAATTAGAAGCACATTTTAAAATTAAAAAAATAAAAGCAGTTCAGAGTGGTTGTAGGGGAGGGAGTGACTGACTTCTGATCTTGTGGCATTATGGCCAGAGAAAGTTATAAAATTAGATTTGATACCGATTCTCTCAGTATAGGGTGATGCCTGCTTGGTGAGCTAAAAAATATATATG... | pathogenic | 1,267 |
Chromosome 1, position 5905354, gene NPHP4 (nephrocystin 4): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4'] | ATTACTTTCTTGGTTATTGTTTACCAGCCTCCTTGATCCCTAGCGCTGCATTTGCTTTGTGTCTCTGCTGTCAGGTGCCACTGTTAGGCTACTTCATTTGAGGTCAGCATTTTAACATCACTTTTCCCATCTGCCACTTTCTACCTCGAGAGGCGGCAGTGTTTCAGACCCCAGCTGGGTCCCTTATGAGCTGAGTCACTGACCAAGATGGGGAAACTGACCATCAATAAAAATATCAACATGTCAGGTGTGTTTCTATTCAATGTAGCTTCAATCTATTCGTTTACAATGATACCCGAAGAAAAAAAAAGTCATTAGTC... | ATTACTTTCTTGGTTATTGTTTACCAGCCTCCTTGATCCCTAGCGCTGCATTTGCTTTGTGTCTCTGCTGTCAGGTGCCACTGTTAGGCTACTTCATTTGAGGTCAGCATTTTAACATCACTTTTCCCATCTGCCACTTTCTACCTCGAGAGGCGGCAGTGTTTCAGACCCCAGCTGGGTCCCTTATGAGCTGAGTCACTGACCAAGATGGGGAAACTGACCATCAATAAAAATATCAACATGTCAGGTGTGTTTCTATTCAATGTAGCTTCAATCTATTCGTTTACAATGATACCCGAAGAAAAAAAAAGTCATTAGTC... | pathogenic | 1,271 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 5905690, gene NPHP4 (nephrocystin 4): what disease(s) if pathogenic? | pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4'] | GCCAGGGAATCATGTAATTACTTCAGAAATTGGCAAATAAAGGGAAGAATCAAGTATTATCCAGCCTTTCCTATACAAACTGCACCTCAAGGTAAGCAAAAAGTTGATGCCAGGAAGTTTCTGGTTTTGGAAGCATCCCAGCTAACAAACAAGGGAGGTGTTCTAGAAGCAGAACGTCACCTCTGCACAAATGACACAGCGGTGGGCACAATGGCTGCTGACGCAACACAAAGAGAAGCAAGCAGACGCCAAGGGCGCAGCGGAGGTGCAGGAGGTGGCGCAAACGTCACCTGCTACAAAGAACTCTTGCCAAAAACAAA... | GCCAGGGAATCATGTAATTACTTCAGAAATTGGCAAATAAAGGGAAGAATCAAGTATTATCCAGCCTTTCCTATACAAACTGCACCTCAAGGTAAGCAAAAAGTTGATGCCAGGAAGTTTCTGGTTTTGGAAGCATCCCAGCTAACAAACAAGGGAGGTGTTCTAGAAGCAGAACGTCACCTCTGCACAAATGACACAGCGGTGGGCACAATGGCTGCTGACGCAACACAAAGAGAAGCAAGCAGACGCCAAGGGCGCAGCGGAGGTGCAGGAGGTGGCGCAAACGTCACCTGCTACAAAGAACTCTTGCCAAAAACAAA... | pathogenic | 1,277 |
Variant at chromosome 1, position 5907139, gene NPHP4 (nephrocystin 4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4'] | AAAGATGGGGTAAAGCAGCTTTCACAGCATTTAGCATGCTGTGGGTGGGTCCTAGCCAAGAGAAGATAAAAACAGATGGCACTCCCGAATCTACTAAGACCTCAGCACAGACAGTTCTGCCAGGTCAGAACCTCAGCGAAGTTTCTCTTCAACACAGGAAATGTGAAAGCCAGATGAGTAACAGAATATTCAAGGATTTACCTGCTAAAGGCAAGAAACTGTAGCACCATCTCGTTGCTTTGTAGACAATCTGATTCTTCCTTCTGAGGGTTAAACGTCACAGGTTCTGTAGCGCTGACAGCCTCGGCTGGCTGTTTATT... | AAAGATGGGGTAAAGCAGCTTTCACAGCATTTAGCATGCTGTGGGTGGGTCCTAGCCAAGAGAAGATAAAAACAGATGGCACTCCCGAATCTACTAAGACCTCAGCACAGACAGTTCTGCCAGGTCAGAACCTCAGCGAAGTTTCTCTTCAACACAGGAAATGTGAAAGCCAGATGAGTAACAGAATATTCAAGGATTTACCTGCTAAAGGCAAGAAACTGTAGCACCATCTCGTTGCTTTGTAGACAATCTGATTCTTCCTTCTGAGGGTTAAACGTCACAGGTTCTGTAGCGCTGACAGCCTCGGCTGGCTGTTTATT... | pathogenic | 1,282 |
Gene NPHP4 (nephrocystin 4) variant at chromosome position 5927667 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4'] | TTTGTTTTGTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCGTTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCGCCCGCCACCACATCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAACGGTCTCGATCTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAGGAATGGGTTGTTTTAAATGATC... | TTTGTTTTGTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCGTTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACTACAGGCGCCCGCCACCACATCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAACGGTCTCGATCTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAGGAATGGGTTGTTTTAAATGATC... | pathogenic | 1,294 |
Is the genetic mutation found on chromosome 1 at position 5933177, within the gene NPHP4 (nephrocystin 4), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4'] | TCTTTTAATTTACGTTATATTTATTTAAAGTATACTTCTTATAGACAGTATATAGTTGGGCTTTGTCTTTCATTAAGCCTGACAATATCTTTTAAACTGGTGTGTTTACACTATTTACACGTAATGTAATTATAGGCATACCTCAAAGATACTACAGGTTCAGTTCCAAACCACTACAATAAAGCAAGTCACTGAATTTTTTGGTTTCCCAGTGCATTTAAAAGTTGTATTTATACTATACTGTAGTCAATAGGTGTGTAATAGCATATGTCTAAAAAAAAAAAAAAAAAAGTACTGTACCTACCTTAATTTAAAAATAC... | TCTTTTAATTTACGTTATATTTATTTAAAGTATACTTCTTATAGACAGTATATAGTTGGGCTTTGTCTTTCATTAAGCCTGACAATATCTTTTAAACTGGTGTGTTTACACTATTTACACGTAATGTAATTATAGGCATACCTCAAAGATACTACAGGTTCAGTTCCAAACCACTACAATAAAGCAAGTCACTGAATTTTTTGGTTTCCCAGTGCATTTAAAAGTTGTATTTATACTATACTGTAGTCAATAGGTGTGTAATAGCATATGTCTAAAAAAAAAAAAAAAAAAGTACTGTACCTACCTTAATTTAAAAATAC... | pathogenic | 1,297 |
Chromosome 1, position 5948220, gene NPHP4 (nephrocystin 4): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Nephronophthisis', 'Nephronophthisis_4', 'Senior-Loken_syndrome_4'] | TTGGAACAAACGCCCCATGGAAAAGGCGGAACTGCATTATTGACTTTTTCAAACAGAAAACTAAATCTTAAGAACAGCAGGATTTGGGTTTCTCAAAGAATCTACATTAATATAAATGATGTCCACATATTTTATTTCTTTCAACTGAACCTATAAATTCTTACTCTTAGTGTTCTATAGGTATATATAAAGTTCCCTATGAGAAACCATCTCTCATTTGTGCAAACTCAAGCTTTACCACACTACTGTCATATAAAAATACATTAAAATGGCCTCATTTTTCAAAATAATTAGCGATTCAATAATCATGAATTAACGCT... | TTGGAACAAACGCCCCATGGAAAAGGCGGAACTGCATTATTGACTTTTTCAAACAGAAAACTAAATCTTAAGAACAGCAGGATTTGGGTTTCTCAAAGAATCTACATTAATATAAATGATGTCCACATATTTTATTTCTTTCAACTGAACCTATAAATTCTTACTCTTAGTGTTCTATAGGTATATATAAAGTTCCCTATGAGAAACCATCTCTCATTTGTGCAAACTCAAGCTTTACCACACTACTGTCATATAAAAATACATTAAAATGGCCTCATTTTTCAAAATAATTAGCGATTCAATAATCATGAATTAACGCT... | pathogenic | 1,305 |
Considering the genetic mutation at chromosome 1, position 5978356, impacting NPHP4 (nephrocystin 4): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Nephronophthisis', 'Nephronophthisis_4'] | TGACGGCATGCTTCTGAGCCGATGCCTGGCCACGGGAAGCGCCTCCCGGTGAAGGATGGCTAACTTCACCACCCGCCGCATGGCTGTCACAACACCAGGTTTCGGGGGGCTCACTGTGCACATCTGAGAAAGCTAAAGCTAAACAGCTCTATCCCCAGCAGTTGGTCTGGCATTGCCAGCACCGGGAACTCATGGCGAGCCTCCTGCCACAGCGCAGGCCCGAGGGGACCCCCTGCCCGCGCTGAAACAGCACTCTAAGGGTTCATCCGCAGTCACACTCATGAAACCTTTCCTGACACGGCTGGCCAGAGAGACCTCTG... | TGACGGCATGCTTCTGAGCCGATGCCTGGCCACGGGAAGCGCCTCCCGGTGAAGGATGGCTAACTTCACCACCCGCCGCATGGCTGTCACAACACCAGGTTTCGGGGGGCTCACTGTGCACATCTGAGAAAGCTAAAGCTAAACAGCTCTATCCCCAGCAGTTGGTCTGGCATTGCCAGCACCGGGAACTCATGGCGAGCCTCCTGCCACAGCGCAGGCCCGAGGGGACCCCCTGCCCGCGCTGAAACAGCACTCTAAGGGTTCATCCGCAGTCACACTCATGAAACCTTTCCTGACACGGCTGGCCAGAGAGACCTCTG... | pathogenic | 1,323 |
Variant in gene NPHP4 (nephrocystin 4), located at chromosome 1 position 5978416: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TAACTTCACCACCCGCCGCATGGCTGTCACAACACCAGGTTTCGGGGGGCTCACTGTGCACATCTGAGAAAGCTAAAGCTAAACAGCTCTATCCCCAGCAGTTGGTCTGGCATTGCCAGCACCGGGAACTCATGGCGAGCCTCCTGCCACAGCGCAGGCCCGAGGGGACCCCCTGCCCGCGCTGAAACAGCACTCTAAGGGTTCATCCGCAGTCACACTCATGAAACCTTTCCTGACACGGCTGGCCAGAGAGACCTCTGAGAGGTATTTGCATTAGCTGTTTGACAACCTTAATGTCAGACACATCCTTAGCTGTCCAG... | TAACTTCACCACCCGCCGCATGGCTGTCACAACACCAGGTTTCGGGGGGCTCACTGTGCACATCTGAGAAAGCTAAAGCTAAACAGCTCTATCCCCAGCAGTTGGTCTGGCATTGCCAGCACCGGGAACTCATGGCGAGCCTCCTGCCACAGCGCAGGCCCGAGGGGACCCCCTGCCCGCGCTGAAACAGCACTCTAAGGGTTCATCCGCAGTCACACTCATGAAACCTTTCCTGACACGGCTGGCCAGAGAGACCTCTGAGAGGTATTTGCATTAGCTGTTTGACAACCTTAATGTCAGACACATCCTTAGCTGTCCAG... | benign | 1,324 |
The chromosome 1, position 6445949 genetic variant in gene ESPN (espin): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CCTGTGGTCAGACGCACAGACCGGGCAGGGCGAGGGGATGGCAGGCCTGGCAGCCTGAGTTCTGGCTGCCCATCACTGCAGCTGGCCATCCAGGCCCCACCCTTACCCCGAGGGCCCCATCAGGAGACAGGCCGGGCTGGTGTTGGGAGTCTGCCCCAGGCCCCAGGTCCAGCAAGGAGAGCCGGCTTGCCAGCCAGGTAACTAGGGATGGGCCTGTGCTGTGCGCCTCCCCATGGAGCCTCTGCCGATCCGTGAGGGAGAAGGCCGATCTCCTGGCATTTCTCCCCTTGGGGTGCAGCTCAAGGGCCCCCTCCTTGTCG... | CCTGTGGTCAGACGCACAGACCGGGCAGGGCGAGGGGATGGCAGGCCTGGCAGCCTGAGTTCTGGCTGCCCATCACTGCAGCTGGCCATCCAGGCCCCACCCTTACCCCGAGGGCCCCATCAGGAGACAGGCCGGGCTGGTGTTGGGAGTCTGCCCCAGGCCCCAGGTCCAGCAAGGAGAGCCGGCTTGCCAGCCAGGTAACTAGGGATGGGCCTGTGCTGTGCGCCTCCCCATGGAGCCTCTGCCGATCCGTGAGGGAGAAGGCCGATCTCCTGGCATTTCTCCCCTTGGGGTGCAGCTCAAGGGCCCCCTCCTTGTCG... | benign | 1,409 |
Regarding the variant found on chromosome 1 at position 6448961 in gene ESPN (espin): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TGCAGGCCAGCTCCAGTAGCTGCCCTCTTCATGCCACCTTAGACCAAGCTCCCACAGTGGCTTCCCCTTTCATCTCTGGGAGGCAGAGGGGGCCCTGGAATCGCTGAGTTCCCAACGCAGACTGTTGGCCCCGCCCAAATCCACAGGACAGGTGGCCCAGCCAGTGCCCCGTCTCCACCGTTGAGCCCAAGTGCCAGGTCTGCGTGGTCCCCTCCTGGCTGTGTGAGCCCCCTCCCGGCTGTGTGCGTCCCTCCGGGCTGTGTGCGCCCCTCCCGGCTGTGTGCGCCCCTCCCCACTGTGTGCGCCCCTCCCGGCTATGT... | TGCAGGCCAGCTCCAGTAGCTGCCCTCTTCATGCCACCTTAGACCAAGCTCCCACAGTGGCTTCCCCTTTCATCTCTGGGAGGCAGAGGGGGCCCTGGAATCGCTGAGTTCCCAACGCAGACTGTTGGCCCCGCCCAAATCCACAGGACAGGTGGCCCAGCCAGTGCCCCGTCTCCACCGTTGAGCCCAAGTGCCAGGTCTGCGTGGTCCCCTCCTGGCTGTGTGAGCCCCCTCCCGGCTGTGTGCGTCCCTCCGGGCTGTGTGCGCCCCTCCCGGCTGTGTGCGCCCCTCCCCACTGTGTGCGCCCCTCCCGGCTATGT... | benign | 1,419 |
Evaluate this variant at chromosome 1, position 6467933, gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Charcot-Marie-Tooth_disease_recessive_intermediate_C', 'Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_4'] | CTGGGAGGGGTTTCCTCTCAGTGGAAGGGCTACGCCCTGGAGGAGCCTTTAACGAGATCGGAAAGGGCGGCCAACCCAGCCCCCAGTGAGGCTTGGAGTGGAGACGCGCCCGGGGCCCCTTCCTTCACCGAGGCTCTTGGGACAGGGCTCAAAGCTGCCCCTAGCCTCCTGCGTCTCAACTCACCGCCGCCACCGCCGCGCAGCCCCGCGGCCGCTGCTCCATAGCCCTCCGACGGGCGCCCAGGGGCTTCCCGGCTCCGTGCTCTCTGCCCGTCGTGGTTCCGCCTTCAGCCCCGCGCCCGCAGGGCCCGCCCCGCGCC... | CTGGGAGGGGTTTCCTCTCAGTGGAAGGGCTACGCCCTGGAGGAGCCTTTAACGAGATCGGAAAGGGCGGCCAACCCAGCCCCCAGTGAGGCTTGGAGTGGAGACGCGCCCGGGGCCCCTTCCTTCACCGAGGCTCTTGGGACAGGGCTCAAAGCTGCCCCTAGCCTCCTGCGTCTCAACTCACCGCCGCCACCGCCGCGCAGCCCCGCGGCCGCTGCTCCATAGCCCTCCGACGGGCGCCCAGGGGCTTCCCGGCTCCGTGCTCTCTGCCCGTCGTGGTTCCGCCTTCAGCCCCGCGCCCGCAGGGCCCGCCCCGCGCC... | pathogenic | 1,452 |
Chromosome 1, position 6469122, gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTCAAGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACT... | CTCAAGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACT... | benign | 1,478 |
Is the genetic variant on chromosome 1, position 6469122, gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CTCAAGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACT... | CTCAAGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACT... | benign | 1,479 |
Clinical classification of chromosome 1, position 6469126, gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5): benign or pathogenic? Disease(s) if pathogenic? | benign | AGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCAT... | AGTGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCAT... | benign | 1,480 |
Is the genetic mutation found on chromosome 1 at position 6469128, within the gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCC... | TGCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCC... | benign | 1,483 |
Gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5) variant at chromosome position 6469129 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCA... | GCCCCGAGTCACTGGGCCCCAAAGCAAAGGACTCTTCCCAGTGGAGTCTAGACAAGTCTTTATAAAAGAACCAAAAGCTCAATAAATACGTAACTTCACAGAACCCAGCCCAAGCCAGGGGTGGCCTGTGGGACTGGGAAGGTGGGGGCAGGGCAGGAGTGAATCCCACTGGAGGCCAGTGAGGGTAGAAGTAGGATGGGCAGCCTAGGAGCCCAGCCCTGAAGACTCGAGCTGAGCTGGTAACTTCGGGGAGTAGGTGACGAGGGGCTGCCTGGGCAGGTGGGGTGGTACTGTGGCCTGGGCCTCCTCCACTCCATCCA... | benign | 1,484 |
Classify the chromosome 1 variant at position 6470357 affecting gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTA... | CCCGAGGCACTAGCTCTGCCATTGGGCCTGGGGCCACAAAGTCTTGTAAGGAGGTTGGGGAGAGGGTGCCGTAGGCAGAGTCCATGGAGCAGGAGCGGCCGTCCACCGGACCCAGGGGCAGCAGCTCACTGGTGGGCGTGGCAGATGAGGCAGTGGTGCTGAGAGAGGTCTCATCAGACTGGGAGCTGAAAGGACCGCTGTCGAACTCGGGGGAGGACAGCGTGTCCCCAGGCTCTACCACAACCATGGCCAGGGTCTCCGTGGAGCCATCTGAGGCACTGTGGGGCCAGGAGCAGAGTCAGCCCAGGCCATGAAACCTA... | benign | 1,504 |
Evaluate this variant at chromosome 1, position 6470905, gene PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCT... | GGCTGGCAGCACATGGAAAGGTGTCTGCCCTCCCCACCCGGACTCTGGGGGAGACAGAGCCCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCT... | benign | 1,512 |
Evaluate if the mutation on chromosome 1 at position 6470965 in PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGC... | CCCGCTCCCACAGTGTTCATGACAAGAGGCCATTGGGAGGAAGGGAGCGTGGCTGGGCCTTCAGGAGTCCTGGGCTAGAGTACTTGTCCTGGTTTGACCTGCTGGGTGGTCATGAGCAGACGTACCAGTGCTGAGAGTCGGGGCTGCCGCTGCTTTTCCGCATGATGGTAGGGGAGCTGGCAGCTGAAGTGCCACTGTCCTCGCCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTGCTCATCCTCCTCCTCTTCCAGGCTCTGCAGGGGCTGCTGACTGCCTGGGGGCTCCTGTGCACGCAGCTGTTGCAGC... | benign | 1,514 |
Is the variant located on chromosome 1 at position 7663346, gene CAMTA1 (calmodulin binding transcription activator 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TGGTCCACCACCTCTATCCTGAGTCTCCACAAGAAGCTCACAGGCTGGGAAGTCCCTCAGCCTCCTGTCCACTCTCCTTCTGTCCTTGTTCCCTTTCTCTTCCATTCCAGCACCCCTGGAAGAGCCGCCTCGTGCACTCTGACTTTAGGGAAACAAAAGCAGAACTCTATGCGGTCCACTCCCTGGGCTGCACCATAGTGAGGGGGAGCTAAAGAGCTCAGAACCCCCGATGGGAGCAGGGGGTCTGGCGGGGGCAGCCTGGCCTCCCTTCCCCTCCTCCTCCCCTACTCATCAATTCGCCCCAGGAGCCAGCTCCCCAG... | TGGTCCACCACCTCTATCCTGAGTCTCCACAAGAAGCTCACAGGCTGGGAAGTCCCTCAGCCTCCTGTCCACTCTCCTTCTGTCCTTGTTCCCTTTCTCTTCCATTCCAGCACCCCTGGAAGAGCCGCCTCGTGCACTCTGACTTTAGGGAAACAAAAGCAGAACTCTATGCGGTCCACTCCCTGGGCTGCACCATAGTGAGGGGGAGCTAAAGAGCTCAGAACCCCCGATGGGAGCAGGGGGTCTGGCGGGGGCAGCCTGGCCTCCCTTCCCCTCCTCCTCCCCTACTCATCAATTCGCCCCAGGAGCCAGCTCCCCAG... | benign | 1,624 |
Assess the variant on chromosome 1, position 7663384, impacting CAMTA1 (calmodulin binding transcription activator 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities'] | CACAGGCTGGGAAGTCCCTCAGCCTCCTGTCCACTCTCCTTCTGTCCTTGTTCCCTTTCTCTTCCATTCCAGCACCCCTGGAAGAGCCGCCTCGTGCACTCTGACTTTAGGGAAACAAAAGCAGAACTCTATGCGGTCCACTCCCTGGGCTGCACCATAGTGAGGGGGAGCTAAAGAGCTCAGAACCCCCGATGGGAGCAGGGGGTCTGGCGGGGGCAGCCTGGCCTCCCTTCCCCTCCTCCTCCCCTACTCATCAATTCGCCCCAGGAGCCAGCTCCCCAGCAGTGAGAGGGCTGCCCTCAGGGAGGGCCTGGGTCCTA... | CACAGGCTGGGAAGTCCCTCAGCCTCCTGTCCACTCTCCTTCTGTCCTTGTTCCCTTTCTCTTCCATTCCAGCACCCCTGGAAGAGCCGCCTCGTGCACTCTGACTTTAGGGAAACAAAAGCAGAACTCTATGCGGTCCACTCCCTGGGCTGCACCATAGTGAGGGGGAGCTAAAGAGCTCAGAACCCCCGATGGGAGCAGGGGGTCTGGCGGGGGCAGCCTGGCCTCCCTTCCCCTCCTCCTCCCCTACTCATCAATTCGCCCCAGGAGCCAGCTCCCCAGCAGTGAGAGGGCTGCCCTCAGGGAGGGCCTGGGTCCTA... | pathogenic | 1,625 |
Clinically, how would you classify the variant at chromosome 1, position 7664959, gene CAMTA1 (calmodulin binding transcription activator 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities'] | TTGGGGAGGGGAGGTGGGGCAGGATACGAACGTAGCCACTCTCACCAGGCTGATCCCCTCTTGCCAGCAAAAGCCCTTCCAGATGAGTGGTATCTGTCTCTGATGGCGGAGGGGACTTTCCTGGGTGTTGACATTCTCTCCACCTTCTCCTTCCCAACTTCCCATATGCTTCCTATTTGAAAAGAGCATCAAGGCCAAAGCCCCTCTGATCTTTGGAGGAGGGTCAAAGGGGCGTGGGACGGCCCCCGGGCTTGGGGTACGTGTCCAAGGGCTGAGAGTCTGTGGCCTGCCTGGGGTACCGGGCCTGGACTTTGCCAGGG... | TTGGGGAGGGGAGGTGGGGCAGGATACGAACGTAGCCACTCTCACCAGGCTGATCCCCTCTTGCCAGCAAAAGCCCTTCCAGATGAGTGGTATCTGTCTCTGATGGCGGAGGGGACTTTCCTGGGTGTTGACATTCTCTCCACCTTCTCCTTCCCAACTTCCCATATGCTTCCTATTTGAAAAGAGCATCAAGGCCAAAGCCCCTCTGATCTTTGGAGGAGGGTCAAAGGGGCGTGGGACGGCCCCCGGGCTTGGGGTACGTGTCCAAGGGCTGAGAGTCTGTGGCCTGCCTGGGGTACCGGGCCTGGACTTTGCCAGGG... | pathogenic | 1,653 |
Mutation at chromosome 1, position 7751268, within CAMTA1 (calmodulin binding transcription activator 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities'] | TCTATCACCTTGTCATAATCCAGGACTTGCCTCAATTTCTGATATGGGTTGCCGTTTCCTCAAGCTTCTCTAGGATTAAGCCCTATTAATGGGGGTGGGGGGACGTCTTTGGCTTCGAGCCAGTTGAGTTCATGATCCCAGAAAAGGAAGGTTTATTGTGCAAACGCTGACACCACAGTGCCTGTAGCTCTATAGCAGGGAGCCGCACTGGCTTCTGTTTGGTGAGCAGGCTTCCTGGGAGCACAAGTGATACACAGAATGAAGGTTTCAAGTCTGTGATTACAACAGGTATTGATTCCAAAATATGAGTTTGGTTTTTT... | TCTATCACCTTGTCATAATCCAGGACTTGCCTCAATTTCTGATATGGGTTGCCGTTTCCTCAAGCTTCTCTAGGATTAAGCCCTATTAATGGGGGTGGGGGGACGTCTTTGGCTTCGAGCCAGTTGAGTTCATGATCCCAGAAAAGGAAGGTTTATTGTGCAAACGCTGACACCACAGTGCCTGTAGCTCTATAGCAGGGAGCCGCACTGGCTTCTGTTTGGTGAGCAGGCTTCCTGGGAGCACAAGTGATACACAGAATGAAGGTTTCAAGTCTGTGATTACAACAGGTATTGATTCCAAAATATGAGTTTGGTTTTTT... | pathogenic | 1,690 |
Benign or pathogenic: chromosome 1, position 7965336, gene PARK7 (Parkinsonism associated deglycase) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_early-onset_Parkinson_disease_7'] | TCCTGAGCTCAAGTTGTCCACCCGCCTCAGGCCTCCCAAAGTGTTAGGACTACAGGCGTGAGCCACTGCACTGTCCTTAGACCCATTTCTTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTT... | TCCTGAGCTCAAGTTGTCCACCCGCCTCAGGCCTCCCAAAGTGTTAGGACTACAGGCGTGAGCCACTGCACTGTCCTTAGACCCATTTCTTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTT... | pathogenic | 1,720 |
Variant in PARK7 (Parkinsonism associated deglycase), chromosome 1, position 7965421—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_early-onset_Parkinson_disease_7'] | TTTCTTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGCCCGCCTTAGCCTTTTACAGTGCTGGGATTACAGGCAGGAGCCACCATGCCCGGCCCCTCAGACTCGTTTCTTA... | TTTCTTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGCCCGCCTTAGCCTTTTACAGTGCTGGGATTACAGGCAGGAGCCACCATGCCCGGCCCCTCAGACTCGTTTCTTA... | pathogenic | 1,722 |
Clinically, how would you classify the variant at chromosome 1, position 7969406, gene PARK7 (Parkinsonism associated deglycase): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CTGTTGGTGTAGTAAACAAGGGAGTGCAGGTGTCTCTTCAGTATACTGATTTCCTTTCCATTGGATACATGCCAAGTAGTGGGATTGCTGGACCATATGGTAGTTCCATTTACTGTAGTTTTTTAAGGAAGTGGTTACCTTTTGTGTGTTTTTATTTTTCAGTGCAGATTCTAAAAGGAGTAAAATAAATTCTATACTTTACACATTTTCTTTTGAGTTTTGAGCTTTGCTTGGTTTTGAATCAACGGTAGGATGTTTATGGTCTTAAAAGTGATTCTAAGCCAGCCATAGTGGTTCACACCTGAAATCCTAGCACTTTG... | CTGTTGGTGTAGTAAACAAGGGAGTGCAGGTGTCTCTTCAGTATACTGATTTCCTTTCCATTGGATACATGCCAAGTAGTGGGATTGCTGGACCATATGGTAGTTCCATTTACTGTAGTTTTTTAAGGAAGTGGTTACCTTTTGTGTGTTTTTATTTTTCAGTGCAGATTCTAAAAGGAGTAAAATAAATTCTATACTTTACACATTTTCTTTTGAGTTTTGAGCTTTGCTTGGTTTTGAATCAACGGTAGGATGTTTATGGTCTTAAAAGTGATTCTAAGCCAGCCATAGTGGTTCACACCTGAAATCCTAGCACTTTG... | benign | 1,726 |
A mutation at chromosome position 7984954 on chromosome 1 in gene PARK7 (Parkinsonism associated deglycase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_early-onset_Parkinson_disease_7'] | AGAAGAGGAGAAAGAGTAGAACAAGGTGTAACTGCCTGTGAACGATCAATTGAGATAACTCACTGCCTTCGACCAGCAGTGGCTTGGTTTCTAATGACAGTAAGACAAGTTCCTATAGCCATTGTTAATCTCCTTGGAAAAGAAATGAACACTGTGTGGTTTCAGAAGCTCATTAATATAGCAGAAGCACTCTGCTTCTGTTTGAAGGGAGGTTTTCAGATGAATTTTTCTGCGTGTTCATTGAACAGACGTTTCCTAAGCTCCTCCTTAGTGCCTGGCACTGGGAACAGAAGAAGGAAGAAGAGAAAGCTGTGCCCTCA... | AGAAGAGGAGAAAGAGTAGAACAAGGTGTAACTGCCTGTGAACGATCAATTGAGATAACTCACTGCCTTCGACCAGCAGTGGCTTGGTTTCTAATGACAGTAAGACAAGTTCCTATAGCCATTGTTAATCTCCTTGGAAAAGAAATGAACACTGTGTGGTTTCAGAAGCTCATTAATATAGCAGAAGCACTCTGCTTCTGTTTGAAGGGAGGTTTTCAGATGAATTTTTCTGCGTGTTCATTGAACAGACGTTTCCTAAGCTCCTCCTTAGTGCCTGGCACTGGGAACAGAAGAAGGAAGAAGAGAAAGCTGTGCCCTCA... | pathogenic | 1,740 |
Is the genetic mutation found on chromosome 1 at position 8358216, within the gene RERE (arginine-glutamic acid dipeptide repeats), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['CHARGE_syndrome', 'Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart'] | CCAGGCGGGTAGGGGAAGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCT... | CCAGGCGGGTAGGGGAAGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCT... | pathogenic | 1,763 |
Variant at chromosome position 8358580, chromosome 1, gene RERE (arginine-glutamic acid dipeptide repeats): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGC... | GACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGC... | benign | 1,776 |
Is the genetic variant on chromosome 1, position 8358802, gene RERE (arginine-glutamic acid dipeptide repeats), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Neurodevelopmental_disorder'] | AATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTT... | AATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTT... | pathogenic | 1,783 |
The chromosome 1, position 8359782 genetic variant in gene RERE (arginine-glutamic acid dipeptide repeats): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGA... | CGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGA... | benign | 1,788 |
Is the genetic variant on chromosome 1, position 8359782, gene RERE (arginine-glutamic acid dipeptide repeats), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGA... | CGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGA... | benign | 1,789 |
Determine whether the variant at chromosome 1, position 8359794, in gene RERE (arginine-glutamic acid dipeptide repeats) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTT... | CCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTT... | benign | 1,791 |
Is the variant located on chromosome 1 at position 8359808, gene RERE (arginine-glutamic acid dipeptide repeats), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAG... | AGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAG... | benign | 1,792 |
Evaluate the clinical significance of the mutation at chromosome 1, position 8359808 in gene RERE (arginine-glutamic acid dipeptide repeats): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | AGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAG... | AGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAG... | benign | 1,793 |
Is the genetic mutation found on chromosome 1 at position 8361046, within the gene RERE (arginine-glutamic acid dipeptide repeats), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTG... | TCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTG... | benign | 1,807 |
The chromosome 1, position 8614630 genetic variant in gene RERE (arginine-glutamic acid dipeptide repeats): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart'] | TATAAAAAGTTTACAAAAAAATTAATGTTATTATGGGGAAGACTTAAAATCCATTCAGCAATTCCTGTTGAGTATTACAGTAAATAAAAGTATTAATAATAGCATCCACATTGATTAAGAAAATATCAGCCTGAAAGTAAAACCTACTTTTTAGATATATGTGGAAATAAGACATATCGGTAAATAAGACATATTGGTAATTGCTAAAGGCTGAAGCTTTAGAAGTAGGTAGTCACATTGGGAATCTACTAATTTGTCCCGTAAGATGTCAGTCTTTCTCTGGGAATTAAAATTAGACTTTTATCTATACTACACTGGGT... | TATAAAAAGTTTACAAAAAAATTAATGTTATTATGGGGAAGACTTAAAATCCATTCAGCAATTCCTGTTGAGTATTACAGTAAATAAAAGTATTAATAATAGCATCCACATTGATTAAGAAAATATCAGCCTGAAAGTAAAACCTACTTTTTAGATATATGTGGAAATAAGACATATCGGTAAATAAGACATATTGGTAATTGCTAAAGGCTGAAGCTTTAGAAGTAGGTAGTCACATTGGGAATCTACTAATTTGTCCCGTAAGATGTCAGTCTTTCTCTGGGAATTAAAATTAGACTTTTATCTATACTACACTGGGT... | pathogenic | 1,832 |
Located at chromosome 1 position 8656224, the variant affecting gene RERE (arginine-glutamic acid dipeptide repeats)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Neurodevelopmental_disorder_with_or_without_anomalies_of_the_brain,_eye,_or_heart'] | ACTGCAGTCTCATCACACTCCCAGCTAATTTTTTACTGTTTTGCAGAGATACGGTCTCACTATGTTGCCCAGGCTGGTCTCCACACTACTCAAGCAATCCTCCCGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCCCACTGACATCTTTTGAAATTTAAAAAACTCCTGTGTGGGAGAATGAAAATCTGGAACTTGACGTGAAGTTCATAACAGTAACAGCATTCCTCAGTAAAATGATTGTTCCAGATTATGGACATAACACAGTGAAGTATTTTAATCTCCTTCTCAGAAAAA... | ACTGCAGTCTCATCACACTCCCAGCTAATTTTTTACTGTTTTGCAGAGATACGGTCTCACTATGTTGCCCAGGCTGGTCTCCACACTACTCAAGCAATCCTCCCGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCCCACTGACATCTTTTGAAATTTAAAAAACTCCTGTGTGGGAGAATGAAAATCTGGAACTTGACGTGAAGTTCATAACAGTAACAGCATTCCTCAGTAAAATGATTGTTCCAGATTATGGACATAACACAGTGAAGTATTTTAATCTCCTTCTCAGAAAAA... | pathogenic | 1,838 |
Clinical classification of chromosome 1, position 8656247, gene RERE (arginine-glutamic acid dipeptide repeats): benign or pathogenic? Disease(s) if pathogenic? | benign | GCTAATTTTTTACTGTTTTGCAGAGATACGGTCTCACTATGTTGCCCAGGCTGGTCTCCACACTACTCAAGCAATCCTCCCGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCCCACTGACATCTTTTGAAATTTAAAAAACTCCTGTGTGGGAGAATGAAAATCTGGAACTTGACGTGAAGTTCATAACAGTAACAGCATTCCTCAGTAAAATGATTGTTCCAGATTATGGACATAACACAGTGAAGTATTTTAATCTCCTTCTCAGAAAAACATAAAAATGGGCAGCTTTAATC... | GCTAATTTTTTACTGTTTTGCAGAGATACGGTCTCACTATGTTGCCCAGGCTGGTCTCCACACTACTCAAGCAATCCTCCCGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCCCACTGACATCTTTTGAAATTTAAAAAACTCCTGTGTGGGAGAATGAAAATCTGGAACTTGACGTGAAGTTCATAACAGTAACAGCATTCCTCAGTAAAATGATTGTTCCAGATTATGGACATAACACAGTGAAGTATTTTAATCTCCTTCTCAGAAAAACATAAAAATGGGCAGCTTTAATC... | benign | 1,839 |
Assess the variant on chromosome 1, position 8656262, impacting RERE (arginine-glutamic acid dipeptide repeats): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TTTTGCAGAGATACGGTCTCACTATGTTGCCCAGGCTGGTCTCCACACTACTCAAGCAATCCTCCCGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCCCACTGACATCTTTTGAAATTTAAAAAACTCCTGTGTGGGAGAATGAAAATCTGGAACTTGACGTGAAGTTCATAACAGTAACAGCATTCCTCAGTAAAATGATTGTTCCAGATTATGGACATAACACAGTGAAGTATTTTAATCTCCTTCTCAGAAAAACATAAAAATGGGCAGCTTTAATCTGCTAATTACATCTC... | TTTTGCAGAGATACGGTCTCACTATGTTGCCCAGGCTGGTCTCCACACTACTCAAGCAATCCTCCCGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCCCACTGACATCTTTTGAAATTTAAAAAACTCCTGTGTGGGAGAATGAAAATCTGGAACTTGACGTGAAGTTCATAACAGTAACAGCATTCCTCAGTAAAATGATTGTTCCAGATTATGGACATAACACAGTGAAGTATTTTAATCTCCTTCTCAGAAAAACATAAAAATGGGCAGCTTTAATCTGCTAATTACATCTC... | benign | 1,840 |
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