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 |
|---|---|---|---|---|---|
Does the genetic variant at chromosome 2, position 232542987, impacting gene CHRNG (cholinergic receptor nicotinic gamma subunit), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita', 'Autosomal_recessive_multiple_pterygium_syndrome', 'Fetal_akinesia_deformation_sequence_1', 'Lethal_multiple_pterygium_syndrome'] | GGCTGGGCCACCTGGGTGGGCTGCTCCCTTCCCTGTAACATGGGGCCGCTGACGGGTCCTATAGAAGCTGGCGAGAGTCAACAAGACAGGCATGAAAAGTGCATCACTCGGGGGCTGGCACATGGTGTGGGCTTAACACATTAGTCGCTATTATGACTATTATTATTATTATTATTATTATGATTAAAACAAGAGAGAGTAAGATAAGCAGAAATTAGGAGGTGGTGCCTGAGGAAGTCTGTCTGGGGCGGGGGGTGGCAGGAGGATTGCTGGGGGGACCTAGTGGTCCGGGTGGGAACCAGTCAGGGGGTGACAGGCTG... | GGCTGGGCCACCTGGGTGGGCTGCTCCCTTCCCTGTAACATGGGGCCGCTGACGGGTCCTATAGAAGCTGGCGAGAGTCAACAAGACAGGCATGAAAAGTGCATCACTCGGGGGCTGGCACATGGTGTGGGCTTAACACATTAGTCGCTATTATGACTATTATTATTATTATTATTATTATGATTAAAACAAGAGAGAGTAAGATAAGCAGAAATTAGGAGGTGGTGCCTGAGGAAGTCTGTCTGGGGCGGGGGGTGGCAGGAGGATTGCTGGGGGGACCTAGTGGTCCGGGTGGGAACCAGTCAGGGGGTGACAGGCTG... | pathogenic | 58,795 |
Determine if the mutation at chromosome 2, position 232543029 in gene CHRNG (cholinergic receptor nicotinic gamma subunit) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Abnormality_of_prenatal_development_or_birth', 'Autosomal_recessive_multiple_pterygium_syndrome', 'CHRNG-related_disorder', 'Inborn_genetic_diseases', 'Lethal_multiple_pterygium_syndrome'] | GGGCCGCTGACGGGTCCTATAGAAGCTGGCGAGAGTCAACAAGACAGGCATGAAAAGTGCATCACTCGGGGGCTGGCACATGGTGTGGGCTTAACACATTAGTCGCTATTATGACTATTATTATTATTATTATTATTATGATTAAAACAAGAGAGAGTAAGATAAGCAGAAATTAGGAGGTGGTGCCTGAGGAAGTCTGTCTGGGGCGGGGGGTGGCAGGAGGATTGCTGGGGGGACCTAGTGGTCCGGGTGGGAACCAGTCAGGGGGTGACAGGCTGGTAGGGACTGGTGTCCCCAGGCCCCTATCCACATGGGGCACA... | GGGCCGCTGACGGGTCCTATAGAAGCTGGCGAGAGTCAACAAGACAGGCATGAAAAGTGCATCACTCGGGGGCTGGCACATGGTGTGGGCTTAACACATTAGTCGCTATTATGACTATTATTATTATTATTATTATTATGATTAAAACAAGAGAGAGTAAGATAAGCAGAAATTAGGAGGTGGTGCCTGAGGAAGTCTGTCTGGGGCGGGGGGTGGCAGGAGGATTGCTGGGGGGACCTAGTGGTCCGGGTGGGAACCAGTCAGGGGGTGACAGGCTGGTAGGGACTGGTGTCCCCAGGCCCCTATCCACATGGGGCACA... | pathogenic | 58,798 |
Evaluate if the mutation on chromosome 2 at position 232543275 in CHRNG (cholinergic receptor nicotinic gamma subunit) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_multiple_pterygium_syndrome', 'Lethal_multiple_pterygium_syndrome'] | CGGGTGGGAACCAGTCAGGGGGTGACAGGCTGGTAGGGACTGGTGTCCCCAGGCCCCTATCCACATGGGGCACAGGGGCTGGTCTGGGGCTGGGGTGTCGGGGGCTGAGCCCACAGCCTCGTGGCCTGGCCTGTTCTGTGCATACAGCGTGGACGGTGTCTTCGAGGTGGCCCTCTACTGCAATGTGCTCGTGTCCCCTGACGGCTGTATCTACTGGCTGCCGCCTGCCATCTTCCGTTCCGCCTGCTCTATCTCAGTCACCTACTTCCCCTTCGACTGGCAGAACTGCTCCCTTATCTTCCAGTGAGGCCATTTATTGG... | CGGGTGGGAACCAGTCAGGGGGTGACAGGCTGGTAGGGACTGGTGTCCCCAGGCCCCTATCCACATGGGGCACAGGGGCTGGTCTGGGGCTGGGGTGTCGGGGGCTGAGCCCACAGCCTCGTGGCCTGGCCTGTTCTGTGCATACAGCGTGGACGGTGTCTTCGAGGTGGCCCTCTACTGCAATGTGCTCGTGTCCCCTGACGGCTGTATCTACTGGCTGCCGCCTGCCATCTTCCGTTCCGCCTGCTCTATCTCAGTCACCTACTTCCCCTTCGACTGGCAGAACTGCTCCCTTATCTTCCAGTGAGGCCATTTATTGG... | pathogenic | 58,801 |
A mutation at chromosome position 232543510 on chromosome 2 in gene CHRNG (cholinergic receptor nicotinic gamma subunit): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CGTTCCGCCTGCTCTATCTCAGTCACCTACTTCCCCTTCGACTGGCAGAACTGCTCCCTTATCTTCCAGTGAGGCCATTTATTGGGGAGGATTAAGAGAGCTGCTCTCAGAGGGGCCTGGGCAGTGGTGGGGTAAGGCCTGGGCAAGGCTTCTGGCCTTGGCTCTGGCAGCACCTAGAGGCCTGGCTCCATCTCCCCTGGGCCTCTGTGCCCATCTCAGGCTAAGACACCTGAAGGTGCCCAAGCTCTCCCTGCTAAGCCCGAGTCCCCTCACTCATCCTTTACTGCCTCAGTTTCCTCACCTGTGCTCCAAGGGGAGAC... | CGTTCCGCCTGCTCTATCTCAGTCACCTACTTCCCCTTCGACTGGCAGAACTGCTCCCTTATCTTCCAGTGAGGCCATTTATTGGGGAGGATTAAGAGAGCTGCTCTCAGAGGGGCCTGGGCAGTGGTGGGGTAAGGCCTGGGCAAGGCTTCTGGCCTTGGCTCTGGCAGCACCTAGAGGCCTGGCTCCATCTCCCCTGGGCCTCTGTGCCCATCTCAGGCTAAGACACCTGAAGGTGCCCAAGCTCTCCCTGCTAAGCCCGAGTCCCCTCACTCATCCTTTACTGCCTCAGTTTCCTCACCTGTGCTCCAAGGGGAGAC... | benign | 58,802 |
Regarding the variant found on chromosome 2 at position 232544409 in gene CHRNG: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_multiple_pterygium_syndrome', 'Lethal_multiple_pterygium_syndrome'] | CCCCATGCAGTCGTGGCAGGTCCACCCGCTCACATTTAGCCTCTTTCCTCGGTGACTCCCAGGTCCCAGACTTACAGCACCAATGAGATTGATCTGCAGCTGAGTCAGGAAGATGGCCAGACCATCGAGTGGATTTTCATTGACCCTGAGGCCTTCACAGGTAACCCCCACCCAAGGGCTCCCCAGGCAGCCTCATCCAGGGCTCCTGCTGGACCCAGCTGTGGTCAAGGCTGGACCAAGGTCAAATCCCTCCCATGTAACTCAAAATGAAAACTACAGCAAACCATAAAATATGCTTTTTAAAACGTCCAACAAAGCTC... | CCCCATGCAGTCGTGGCAGGTCCACCCGCTCACATTTAGCCTCTTTCCTCGGTGACTCCCAGGTCCCAGACTTACAGCACCAATGAGATTGATCTGCAGCTGAGTCAGGAAGATGGCCAGACCATCGAGTGGATTTTCATTGACCCTGAGGCCTTCACAGGTAACCCCCACCCAAGGGCTCCCCAGGCAGCCTCATCCAGGGCTCCTGCTGGACCCAGCTGTGGTCAAGGCTGGACCAAGGTCAAATCCCTCCCATGTAACTCAAAATGAAAACTACAGCAAACCATAAAATATGCTTTTTAAAACGTCCAACAAAGCTC... | pathogenic | 58,811 |
Mutation at chromosome 2, position 233309256, within SAG (S-antigen visual arrestin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Oguchi_disease-1', 'Retinitis_pigmentosa_47', 'Retinitis_pigmentosa_96'] | CCTGGGAGACAGAGCAAGACTCCATCTCAAAACAAAAAACAAAACAAAAAAAAGAAAAGAAATAGATGTAGTCAGACAGTGGGGAATCACTCCGGTCCTGAGAAGCAAAGGCGGTGCTGGGGATGGGAGGATGCAGACAGGTTCCAGAGACACTGAGGGGATCAACAGGACTCCTGAAGCCATCAATCAGTAGGACCGGGTGGAGGAGAGGGACAGATCCAGCTTGGCTTGCATAACACCAGGTTCATCTTGAGGTTGACATTTCTCCTTGACCTTTTTGTTTAGTCCCCACCCGCAAGGTCGCATTAGCTGCCTGCTGA... | CCTGGGAGACAGAGCAAGACTCCATCTCAAAACAAAAAACAAAACAAAAAAAAGAAAAGAAATAGATGTAGTCAGACAGTGGGGAATCACTCCGGTCCTGAGAAGCAAAGGCGGTGCTGGGGATGGGAGGATGCAGACAGGTTCCAGAGACACTGAGGGGATCAACAGGACTCCTGAAGCCATCAATCAGTAGGACCGGGTGGAGGAGAGGGACAGATCCAGCTTGGCTTGCATAACACCAGGTTCATCTTGAGGTTGACATTTCTCCTTGACCTTTTTGTTTAGTCCCCACCCGCAAGGTCGCATTAGCTGCCTGCTGA... | pathogenic | 58,847 |
Variant in gene SAG (S-antigen visual arrestin), located at chromosome 2 position 233335078: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Oguchi_disease', 'Retinal_dystrophy', 'Retinitis_pigmentosa_47', 'SAG-related_disorder'] | AGGTGATCTGCTTGCCTCAGCCTCCCAAAGTGCTGAAATTACAGGCGTGAGCCACCGCACCTGGCCTATATGGGAATATTTAAAAGGCAACTTTAGGAGAAACTATTACTGTTATTCAAAACAGATTCAAACTGTAGGTCTACAAGGGAGGGAGACAGGAAAGAACCACCACTCACTGCCTCCTTTCTGCCAAGATTGGGCTCTGTTCTGCCTTTAGGGGATCCTCGCACATCCCTGTGCCCTGGAGGGGTCTTGGCCCTGGTTCACCTTTCCTCATGTGCTCAGCAACATGGGAGCAAAGGATCCTGGCTGAGTTTTCC... | AGGTGATCTGCTTGCCTCAGCCTCCCAAAGTGCTGAAATTACAGGCGTGAGCCACCGCACCTGGCCTATATGGGAATATTTAAAAGGCAACTTTAGGAGAAACTATTACTGTTATTCAAAACAGATTCAAACTGTAGGTCTACAAGGGAGGGAGACAGGAAAGAACCACCACTCACTGCCTCCTTTCTGCCAAGATTGGGCTCTGTTCTGCCTTTAGGGGATCCTCGCACATCCCTGTGCCCTGGAGGGGTCTTGGCCCTGGTTCACCTTTCCTCATGTGCTCAGCAACATGGGAGCAAAGGATCCTGGCTGAGTTTTCC... | pathogenic | 58,880 |
Gene UGT1A variant at chromosome 2, position 233760235—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Gilbert_syndrome', 'UGT1A1-related_disorder'] | GATTGCTTAGTAGTGGTTCTCTGTTGTAATTCATGAGCATGAATGTGGATTGCCCACTATTCAGATTAGTAAGTATTTCTTGGTCAAGGGCAGAGCTGTGGCCACAAACCATCCAGGTACACAGCAGAAGCAGCCTCAAAAAGCTTGGAAGCTCTGCATGATGCAGGAAAGTCATAAAATCATTACAGTGGTGACTTATGTGTTTATAGCCCCTTTACTGTCTATAATCTGCAAATGAACTCACACAGCATTGGGACTTTGGAAGAATTATCACCCTTAAGGTTTAAATTAAACTGTGAATTTCAGAATTTCTAATAAGG... | GATTGCTTAGTAGTGGTTCTCTGTTGTAATTCATGAGCATGAATGTGGATTGCCCACTATTCAGATTAGTAAGTATTTCTTGGTCAAGGGCAGAGCTGTGGCCACAAACCATCCAGGTACACAGCAGAAGCAGCCTCAAAAAGCTTGGAAGCTCTGCATGATGCAGGAAAGTCATAAAATCATTACAGTGGTGACTTATGTGTTTATAGCCCCTTTACTGTCTATAATCTGCAAATGAACTCACACAGCATTGGGACTTTGGAAGAATTATCACCCTTAAGGTTTAAATTAAACTGTGAATTTCAGAATTTCTAATAAGG... | pathogenic | 58,910 |
Gene UGT1A variant at chromosome 2, position 233760364—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['UGT1A1-related_disorder'] | GCAGCCTCAAAAAGCTTGGAAGCTCTGCATGATGCAGGAAAGTCATAAAATCATTACAGTGGTGACTTATGTGTTTATAGCCCCTTTACTGTCTATAATCTGCAAATGAACTCACACAGCATTGGGACTTTGGAAGAATTATCACCCTTAAGGTTTAAATTAAACTGTGAATTTCAGAATTTCTAATAAGGACACAACAAAGAGTGAAAGCATTGCTATGTCTATTCTGCTTGCCCAGAATCTTGGTCCTAAAAAATGAAGAGTGTTTGGGTGTGGGGAGGAGCTTCAGTGTGCATGTGCATGCAAAGTACCTACTCTAA... | GCAGCCTCAAAAAGCTTGGAAGCTCTGCATGATGCAGGAAAGTCATAAAATCATTACAGTGGTGACTTATGTGTTTATAGCCCCTTTACTGTCTATAATCTGCAAATGAACTCACACAGCATTGGGACTTTGGAAGAATTATCACCCTTAAGGTTTAAATTAAACTGTGAATTTCAGAATTTCTAATAAGGACACAACAAAGAGTGAAAGCATTGCTATGTCTATTCTGCTTGCCCAGAATCTTGGTCCTAAAAAATGAAGAGTGTTTGGGTGTGGGGAGGAGCTTCAGTGTGCATGTGCATGCAAAGTACCTACTCTAA... | pathogenic | 58,912 |
Gene mutation in UGT1A at chromosome 2, position 233760524—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hyperbilirubinemia', 'UGT1A1-related_disorder'] | TAAACTGTGAATTTCAGAATTTCTAATAAGGACACAACAAAGAGTGAAAGCATTGCTATGTCTATTCTGCTTGCCCAGAATCTTGGTCCTAAAAAATGAAGAGTGTTTGGGTGTGGGGAGGAGCTTCAGTGTGCATGTGCATGCAAAGTACCTACTCTAAGGAGAAGAATGAGAGGGTACCCTAATTACCTGTTAATATGTCCCATAGGACACCAAAACTCTAGTTAGCTGTTTCTCTATGATCCTCTAAGCACATCCCCAAGTATGGCTGGCCAGTGATGTGTATGGTTCAAATGTTGGGATCTGTGCAGTTATCTTGG... | TAAACTGTGAATTTCAGAATTTCTAATAAGGACACAACAAAGAGTGAAAGCATTGCTATGTCTATTCTGCTTGCCCAGAATCTTGGTCCTAAAAAATGAAGAGTGTTTGGGTGTGGGGAGGAGCTTCAGTGTGCATGTGCATGCAAAGTACCTACTCTAAGGAGAAGAATGAGAGGGTACCCTAATTACCTGTTAATATGTCCCATAGGACACCAAAACTCTAGTTAGCTGTTTCTCTATGATCCTCTAAGCACATCCCCAAGTATGGCTGGCCAGTGATGTGTATGGTTCAAATGTTGGGATCTGTGCAGTTATCTTGG... | pathogenic | 58,914 |
Determine whether the variant at chromosome 2, position 233760582, in gene UGT1A is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Bilirubin,_serum_level_of,_quantitative_trait_locus_1', 'Crigler-Najjar_syndrome,_type_II', 'Crigler-Najjar_syndrome_type_1', 'Gilbert_syndrome', 'Lucey-Driscoll_syndrome'] | TGTCTATTCTGCTTGCCCAGAATCTTGGTCCTAAAAAATGAAGAGTGTTTGGGTGTGGGGAGGAGCTTCAGTGTGCATGTGCATGCAAAGTACCTACTCTAAGGAGAAGAATGAGAGGGTACCCTAATTACCTGTTAATATGTCCCATAGGACACCAAAACTCTAGTTAGCTGTTTCTCTATGATCCTCTAAGCACATCCCCAAGTATGGCTGGCCAGTGATGTGTATGGTTCAAATGTTGGGATCTGTGCAGTTATCTTGGAATTGTATAGTACAGCAGTATATCCCCCCCAAAAAGAGTGTAATACTTCCAATTCTGG... | TGTCTATTCTGCTTGCCCAGAATCTTGGTCCTAAAAAATGAAGAGTGTTTGGGTGTGGGGAGGAGCTTCAGTGTGCATGTGCATGCAAAGTACCTACTCTAAGGAGAAGAATGAGAGGGTACCCTAATTACCTGTTAATATGTCCCATAGGACACCAAAACTCTAGTTAGCTGTTTCTCTATGATCCTCTAAGCACATCCCCAAGTATGGCTGGCCAGTGATGTGTATGGTTCAAATGTTGGGATCTGTGCAGTTATCTTGGAATTGTATAGTACAGCAGTATATCCCCCCCAAAAAGAGTGTAATACTTCCAATTCTGG... | pathogenic | 58,915 |
Is the genetic mutation found on chromosome 2 at position 233760634, within the gene UGT1A, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Crigler-Najjar_syndrome_type_1', 'Gilbert_syndrome', 'Inborn_genetic_diseases', 'UGT1A1-related_disorder'] | GTGTGGGGAGGAGCTTCAGTGTGCATGTGCATGCAAAGTACCTACTCTAAGGAGAAGAATGAGAGGGTACCCTAATTACCTGTTAATATGTCCCATAGGACACCAAAACTCTAGTTAGCTGTTTCTCTATGATCCTCTAAGCACATCCCCAAGTATGGCTGGCCAGTGATGTGTATGGTTCAAATGTTGGGATCTGTGCAGTTATCTTGGAATTGTATAGTACAGCAGTATATCCCCCCCAAAAAGAGTGTAATACTTCCAATTCTGGCTGCACAATACTTGCCCCATAGTCCATGGTCAATAAATACAAATTTGAGTTG... | GTGTGGGGAGGAGCTTCAGTGTGCATGTGCATGCAAAGTACCTACTCTAAGGAGAAGAATGAGAGGGTACCCTAATTACCTGTTAATATGTCCCATAGGACACCAAAACTCTAGTTAGCTGTTTCTCTATGATCCTCTAAGCACATCCCCAAGTATGGCTGGCCAGTGATGTGTATGGTTCAAATGTTGGGATCTGTGCAGTTATCTTGGAATTGTATAGTACAGCAGTATATCCCCCCCAAAAAGAGTGTAATACTTCCAATTCTGGCTGCACAATACTTGCCCCATAGTCCATGGTCAATAAATACAAATTTGAGTTG... | pathogenic | 58,916 |
Variant at chromosome 2, position 233760794, gene UGT1A: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Bilirubin,_serum_level_of,_quantitative_trait_locus_1', 'Crigler-Najjar_syndrome,_type_II', 'Crigler-Najjar_syndrome_type_1', 'Gilbert_syndrome', 'Lucey-Driscoll_syndrome'] | GGCCAGTGATGTGTATGGTTCAAATGTTGGGATCTGTGCAGTTATCTTGGAATTGTATAGTACAGCAGTATATCCCCCCCAAAAAGAGTGTAATACTTCCAATTCTGGCTGCACAATACTTGCCCCATAGTCCATGGTCAATAAATACAAATTTGAGTTGTTTTTGCTCATCTTTCCCTTTTGACTTCAAATCAGTCATCAGAATTTCCCCAAATGCCTTTCCCCTGGATCTTGGGCCAGTGGAATGAGTACAATTTAACTTAATTGAATTTGCTTATCTATTTGGTTTCCTGTTGTGAACAAAAGTTCTCTGAAAAGGA... | GGCCAGTGATGTGTATGGTTCAAATGTTGGGATCTGTGCAGTTATCTTGGAATTGTATAGTACAGCAGTATATCCCCCCCAAAAAGAGTGTAATACTTCCAATTCTGGCTGCACAATACTTGCCCCATAGTCCATGGTCAATAAATACAAATTTGAGTTGTTTTTGCTCATCTTTCCCTTTTGACTTCAAATCAGTCATCAGAATTTCCCCAAATGCCTTTCCCCTGGATCTTGGGCCAGTGGAATGAGTACAATTTAACTTAATTGAATTTGCTTATCTATTTGGTTTCCTGTTGTGAACAAAAGTTCTCTGAAAAGGA... | pathogenic | 58,918 |
The chromosome 2, position 233760894 genetic variant in gene UGT1A: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Crigler-Najjar_syndrome'] | AATTCTGGCTGCACAATACTTGCCCCATAGTCCATGGTCAATAAATACAAATTTGAGTTGTTTTTGCTCATCTTTCCCTTTTGACTTCAAATCAGTCATCAGAATTTCCCCAAATGCCTTTCCCCTGGATCTTGGGCCAGTGGAATGAGTACAATTTAACTTAATTGAATTTGCTTATCTATTTGGTTTCCTGTTGTGAACAAAAGTTCTCTGAAAAGGAATTTGGAAGAAAGAGACTTTGTTCTAGTGAACAGTTTGCAAACCAGGGAGTTACAGCCTCTGGTACGCAATGAAGGTGAGTTCCACAGAACACAAGGCAG... | AATTCTGGCTGCACAATACTTGCCCCATAGTCCATGGTCAATAAATACAAATTTGAGTTGTTTTTGCTCATCTTTCCCTTTTGACTTCAAATCAGTCATCAGAATTTCCCCAAATGCCTTTCCCCTGGATCTTGGGCCAGTGGAATGAGTACAATTTAACTTAATTGAATTTGCTTATCTATTTGGTTTCCTGTTGTGAACAAAAGTTCTCTGAAAAGGAATTTGGAAGAAAGAGACTTTGTTCTAGTGAACAGTTTGCAAACCAGGGAGTTACAGCCTCTGGTACGCAATGAAGGTGAGTTCCACAGAACACAAGGCAG... | pathogenic | 58,921 |
Regarding the variant at chromosome 2 and position 233760908, affecting gene UGT1A: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Crigler-Najjar_syndrome'] | AATACTTGCCCCATAGTCCATGGTCAATAAATACAAATTTGAGTTGTTTTTGCTCATCTTTCCCTTTTGACTTCAAATCAGTCATCAGAATTTCCCCAAATGCCTTTCCCCTGGATCTTGGGCCAGTGGAATGAGTACAATTTAACTTAATTGAATTTGCTTATCTATTTGGTTTCCTGTTGTGAACAAAAGTTCTCTGAAAAGGAATTTGGAAGAAAGAGACTTTGTTCTAGTGAACAGTTTGCAAACCAGGGAGTTACAGCCTCTGGTACGCAATGAAGGTGAGTTCCACAGAACACAAGGCAGGCAGGTTTCACGGC... | AATACTTGCCCCATAGTCCATGGTCAATAAATACAAATTTGAGTTGTTTTTGCTCATCTTTCCCTTTTGACTTCAAATCAGTCATCAGAATTTCCCCAAATGCCTTTCCCCTGGATCTTGGGCCAGTGGAATGAGTACAATTTAACTTAATTGAATTTGCTTATCTATTTGGTTTCCTGTTGTGAACAAAAGTTCTCTGAAAAGGAATTTGGAAGAAAGAGACTTTGTTCTAGTGAACAGTTTGCAAACCAGGGAGTTACAGCCTCTGGTACGCAATGAAGGTGAGTTCCACAGAACACAAGGCAGGCAGGTTTCACGGC... | pathogenic | 58,922 |
Variant at chromosome 2, position 233761002, gene UGT1A: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Crigler-Najjar_syndrome_type_1', 'Hyperbilirubinemia', 'UGT1A1-related_disorder'] | CCCAAATGCCTTTCCCCTGGATCTTGGGCCAGTGGAATGAGTACAATTTAACTTAATTGAATTTGCTTATCTATTTGGTTTCCTGTTGTGAACAAAAGTTCTCTGAAAAGGAATTTGGAAGAAAGAGACTTTGTTCTAGTGAACAGTTTGCAAACCAGGGAGTTACAGCCTCTGGTACGCAATGAAGGTGAGTTCCACAGAACACAAGGCAGGCAGGTTTCACGGCAAAAAGTTCCTTCCCAGGTTCCCAATCAGGTCCATTTATGCAAATGAAGGATGGAAACTTGCTTAGTTCTTATTGGTCACTGCAGCTGCATTCT... | CCCAAATGCCTTTCCCCTGGATCTTGGGCCAGTGGAATGAGTACAATTTAACTTAATTGAATTTGCTTATCTATTTGGTTTCCTGTTGTGAACAAAAGTTCTCTGAAAAGGAATTTGGAAGAAAGAGACTTTGTTCTAGTGAACAGTTTGCAAACCAGGGAGTTACAGCCTCTGGTACGCAATGAAGGTGAGTTCCACAGAACACAAGGCAGGCAGGTTTCACGGCAAAAAGTTCCTTCCCAGGTTCCCAATCAGGTCCATTTATGCAAATGAAGGATGGAAACTTGCTTAGTTCTTATTGGTCACTGCAGCTGCATTCT... | pathogenic | 58,924 |
Considering the variant on chromosome 2, location 233767046, involving gene UGT1A, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Crigler-Najjar_syndrome_type_1'] | CATGTTCCAAATCAGGCTTGGCAGGAGTCCTGCTGTGCAAATTGCGTTTGCTGAGCCCTGTCAGAGGTCTCCTGTGTCTCACATCTAGGGTGACCAGCATCCTGGCTTCCTCAGGACTGTTCAGGTTTTAGCACTGAACATCACATGTCCTAGGGAACCCCTCAGTTTGGGCAAGCCCTGCCACATCACACAATCATATTAGTGCCCTCAGTATTCTTTGCAAACATAAAACCATAGACTCAGTAATCCCATTACTGGGTATATACCCAAAGAAATATAAATTATTCTACTATAAAGACACATGCACATATTTGTTTATT... | CATGTTCCAAATCAGGCTTGGCAGGAGTCCTGCTGTGCAAATTGCGTTTGCTGAGCCCTGTCAGAGGTCTCCTGTGTCTCACATCTAGGGTGACCAGCATCCTGGCTTCCTCAGGACTGTTCAGGTTTTAGCACTGAACATCACATGTCCTAGGGAACCCCTCAGTTTGGGCAAGCCCTGCCACATCACACAATCATATTAGTGCCCTCAGTATTCTTTGCAAACATAAAACCATAGACTCAGTAATCCCATTACTGGGTATATACCCAAAGAAATATAAATTATTCTACTATAAAGACACATGCACATATTTGTTTATT... | pathogenic | 58,926 |
Clinical classification of chromosome 2, position 233767893, gene UGT1A: benign or pathogenic? Disease(s) if pathogenic? | pathogenic | CCTCACAGAGCATGTGACAGCGGGAGGGGCTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTG... | CCTCACAGAGCATGTGACAGCGGGAGGGGCTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTG... | pathogenic | 58,932 |
Clinical significance of chromosome 2, position 233768295, gene UGT1A: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bilirubin,_serum_level_of,_quantitative_trait_locus_1', 'Crigler-Najjar_syndrome,_type_II', 'Crigler-Najjar_syndrome_type_1', 'Gilbert_syndrome', 'Lucey-Driscoll_syndrome', 'UGT1A1-related_disorder'] | CAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGG... | CAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGG... | pathogenic | 58,936 |
Does the variant impacting UGT1A on chromosome 2, position 233768353, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bilirubin,_serum_level_of,_quantitative_trait_locus_1', 'Crigler-Najjar_syndrome,_type_II', 'Crigler-Najjar_syndrome_type_1', 'Gilbert_syndrome', 'Lucey-Driscoll_syndrome'] | GACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTC... | GACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTC... | pathogenic | 58,937 |
Does the genetic variant at chromosome 2, position 237336168, impacting gene COL6A3 (collagen type VI alpha 3 chain), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Bethlem_myopathy_1A'] | AGCCAAGGGCAGAGCCCAACTATGGTGAGATCAGGGCAGGGAGACTCAGCTATCGACATCCTCCACCCCCGGGGCGGTGAGACTTCAGGGACACCTCCATTACTCCCTAAGGAGCCAGTGACTGGCTGGTGTTTTCCTGAACATGGAAACCTGGACGGGGTGGTGGGCAACCAGGAGCCCTCACCGGGAGACGTGGCCATCTTTCCCGGGTGCAATGTTGGAAAGGGCTGTGCTCAGGCGACGTGGATCTGGCTTCCTCCAAAAAGTAGCCCAGGACCCAGAGGGCAGGACTGCATCCCACATGGAATCCCATTTCCATT... | AGCCAAGGGCAGAGCCCAACTATGGTGAGATCAGGGCAGGGAGACTCAGCTATCGACATCCTCCACCCCCGGGGCGGTGAGACTTCAGGGACACCTCCATTACTCCCTAAGGAGCCAGTGACTGGCTGGTGTTTTCCTGAACATGGAAACCTGGACGGGGTGGTGGGCAACCAGGAGCCCTCACCGGGAGACGTGGCCATCTTTCCCGGGTGCAATGTTGGAAAGGGCTGTGCTCAGGCGACGTGGATCTGGCTTCCTCCAAAAAGTAGCCCAGGACCCAGAGGGCAGGACTGCATCCCACATGGAATCCCATTTCCATT... | pathogenic | 59,001 |
Does the chromosome 2 mutation at position 237336220 within gene COL6A3 (collagen type VI alpha 3 chain) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TCGACATCCTCCACCCCCGGGGCGGTGAGACTTCAGGGACACCTCCATTACTCCCTAAGGAGCCAGTGACTGGCTGGTGTTTTCCTGAACATGGAAACCTGGACGGGGTGGTGGGCAACCAGGAGCCCTCACCGGGAGACGTGGCCATCTTTCCCGGGTGCAATGTTGGAAAGGGCTGTGCTCAGGCGACGTGGATCTGGCTTCCTCCAAAAAGTAGCCCAGGACCCAGAGGGCAGGACTGCATCCCACATGGAATCCCATTTCCATTCTGTGTTTTATAAGCTTAGGCTGCCACCAAAGCACCCAGGCTGAGTTGTTTT... | TCGACATCCTCCACCCCCGGGGCGGTGAGACTTCAGGGACACCTCCATTACTCCCTAAGGAGCCAGTGACTGGCTGGTGTTTTCCTGAACATGGAAACCTGGACGGGGTGGTGGGCAACCAGGAGCCCTCACCGGGAGACGTGGCCATCTTTCCCGGGTGCAATGTTGGAAAGGGCTGTGCTCAGGCGACGTGGATCTGGCTTCCTCCAAAAAGTAGCCCAGGACCCAGAGGGCAGGACTGCATCCCACATGGAATCCCATTTCCATTCTGTGTTTTATAAGCTTAGGCTGCCACCAAAGCACCCAGGCTGAGTTGTTTT... | benign | 59,003 |
The mutation impacting COL6A3 (collagen type VI alpha 3 chain) on chromosome 2 at position 237336232: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ACCCCCGGGGCGGTGAGACTTCAGGGACACCTCCATTACTCCCTAAGGAGCCAGTGACTGGCTGGTGTTTTCCTGAACATGGAAACCTGGACGGGGTGGTGGGCAACCAGGAGCCCTCACCGGGAGACGTGGCCATCTTTCCCGGGTGCAATGTTGGAAAGGGCTGTGCTCAGGCGACGTGGATCTGGCTTCCTCCAAAAAGTAGCCCAGGACCCAGAGGGCAGGACTGCATCCCACATGGAATCCCATTTCCATTCTGTGTTTTATAAGCTTAGGCTGCCACCAAAGCACCCAGGCTGAGTTGTTTTGTTGTTGTTGCT... | ACCCCCGGGGCGGTGAGACTTCAGGGACACCTCCATTACTCCCTAAGGAGCCAGTGACTGGCTGGTGTTTTCCTGAACATGGAAACCTGGACGGGGTGGTGGGCAACCAGGAGCCCTCACCGGGAGACGTGGCCATCTTTCCCGGGTGCAATGTTGGAAAGGGCTGTGCTCAGGCGACGTGGATCTGGCTTCCTCCAAAAAGTAGCCCAGGACCCAGAGGGCAGGACTGCATCCCACATGGAATCCCATTTCCATTCTGTGTTTTATAAGCTTAGGCTGCCACCAAAGCACCCAGGCTGAGTTGTTTTGTTGTTGTTGCT... | benign | 59,004 |
Determine whether the variant at chromosome 2, position 237336409, in gene COL6A3 (collagen type VI alpha 3 chain) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CGTGGATCTGGCTTCCTCCAAAAAGTAGCCCAGGACCCAGAGGGCAGGACTGCATCCCACATGGAATCCCATTTCCATTCTGTGTTTTATAAGCTTAGGCTGCCACCAAAGCACCCAGGCTGAGTTGTTTTGTTGTTGTTGCTGTTGTTGTTTTTTGAATTTGTGGTTATTTCAGAATAGATTCAATAAGTAAGTGTCTCCTTTGTGTCCTATTTGATACTCTACATAGAAATCAGGTACCGACTTGTACTGATCATGTACTTACTTGTACTGAAACTTCCGTGGTAGGTGGCTCTGACCTGAGACCTCAGGTAGCAGAC... | CGTGGATCTGGCTTCCTCCAAAAAGTAGCCCAGGACCCAGAGGGCAGGACTGCATCCCACATGGAATCCCATTTCCATTCTGTGTTTTATAAGCTTAGGCTGCCACCAAAGCACCCAGGCTGAGTTGTTTTGTTGTTGTTGCTGTTGTTGTTTTTTGAATTTGTGGTTATTTCAGAATAGATTCAATAAGTAAGTGTCTCCTTTGTGTCCTATTTGATACTCTACATAGAAATCAGGTACCGACTTGTACTGATCATGTACTTACTTGTACTGAAACTTCCGTGGTAGGTGGCTCTGACCTGAGACCTCAGGTAGCAGAC... | benign | 59,012 |
Clinically, how would you classify the variant at chromosome 2, position 237339123, gene COL6A3 (collagen type VI alpha 3 chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GATCTATTACCAATATCTAGAGAGAATAGCAGCCTAATCAAACAGACATAACAACAAGGACCCACACTTCATAGCTTTCTTGATCTTAGAAGAAAATATATTATTTTATAGTCATATCTTGCTACTTGTCCTAGGAAGTATTAATATATTTTCAAGTTAATATCATAAGACTTCAAATACTAGGTTACTTCATTCATTCTGTTTTCCTAAAGATAAAAAGGTTGAGCCAATTTCAGGGAAGGTTTCAGAGAAAAAATACGAATCATTAGAGCCTAGAAAAATGGAGGCTACAAAGCTAAATGAAGCATCCAGTGCCACGA... | GATCTATTACCAATATCTAGAGAGAATAGCAGCCTAATCAAACAGACATAACAACAAGGACCCACACTTCATAGCTTTCTTGATCTTAGAAGAAAATATATTATTTTATAGTCATATCTTGCTACTTGTCCTAGGAAGTATTAATATATTTTCAAGTTAATATCATAAGACTTCAAATACTAGGTTACTTCATTCATTCTGTTTTCCTAAAGATAAAAAGGTTGAGCCAATTTCAGGGAAGGTTTCAGAGAAAAAATACGAATCATTAGAGCCTAGAAAAATGGAGGCTACAAAGCTAAATGAAGCATCCAGTGCCACGA... | benign | 59,017 |
The mutation impacting COL6A3 (collagen type VI alpha 3 chain) on chromosome 2 at position 237339123: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GATCTATTACCAATATCTAGAGAGAATAGCAGCCTAATCAAACAGACATAACAACAAGGACCCACACTTCATAGCTTTCTTGATCTTAGAAGAAAATATATTATTTTATAGTCATATCTTGCTACTTGTCCTAGGAAGTATTAATATATTTTCAAGTTAATATCATAAGACTTCAAATACTAGGTTACTTCATTCATTCTGTTTTCCTAAAGATAAAAAGGTTGAGCCAATTTCAGGGAAGGTTTCAGAGAAAAAATACGAATCATTAGAGCCTAGAAAAATGGAGGCTACAAAGCTAAATGAAGCATCCAGTGCCACGA... | GATCTATTACCAATATCTAGAGAGAATAGCAGCCTAATCAAACAGACATAACAACAAGGACCCACACTTCATAGCTTTCTTGATCTTAGAAGAAAATATATTATTTTATAGTCATATCTTGCTACTTGTCCTAGGAAGTATTAATATATTTTCAAGTTAATATCATAAGACTTCAAATACTAGGTTACTTCATTCATTCTGTTTTCCTAAAGATAAAAAGGTTGAGCCAATTTCAGGGAAGGTTTCAGAGAAAAAATACGAATCATTAGAGCCTAGAAAAATGGAGGCTACAAAGCTAAATGAAGCATCCAGTGCCACGA... | benign | 59,018 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 237341118, gene COL6A3 (collagen type VI alpha 3 chain). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bethlem_myopathy_1A'] | AATCACACTGTTTCCTGATATCTGGGGACAAGTAAAAAGCATTTTCACCTAAAGAAAAAAAACAAAGAAAACAATTGAACCGCATGCTAATAACATGAAAATTAAAATTAATCTGTCAACAAGTTAAATGAATCACATAACATTTATTTAGCCCATAATTATTGTTGAATTAACTATATCAGACAAACTATGTCCAGTGATTTTAAACATAAAGTATGATGGCATTGGATCCATAAAACATGGTAAGCCAATATGTTCTATTTGGCAATATTTGGGTGATTAAGTTAAAGATATATTTATCCAACATGAGAGAGAAGACA... | AATCACACTGTTTCCTGATATCTGGGGACAAGTAAAAAGCATTTTCACCTAAAGAAAAAAAACAAAGAAAACAATTGAACCGCATGCTAATAACATGAAAATTAAAATTAATCTGTCAACAAGTTAAATGAATCACATAACATTTATTTAGCCCATAATTATTGTTGAATTAACTATATCAGACAAACTATGTCCAGTGATTTTAAACATAAAGTATGATGGCATTGGATCCATAAAACATGGTAAGCCAATATGTTCTATTTGGCAATATTTGGGTGATTAAGTTAAAGATATATTTATCCAACATGAGAGAGAAGACA... | pathogenic | 59,038 |
A genetic variant on chromosome 2, position 237345211, affects the gene COL6A3 (collagen type VI alpha 3 chain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Bethlem_myopathy_1A', 'Bethlem_myopathy_1C'] | TCGCCAGAACTGCACTGAATAAATATTAATTGATGTAAGAATTAAACTAGTTGTCTGGGTGCGGTGGCTTACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGTGGTCAGGAGTTCGAGACCAGTCTGACCAATATGGTGAAACCCCCGTCTCTACTAAAAAAAAAAAAAAGAAAGAAAAATACAAAAATTAGCCAGGCATGGTGGCGAGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCACTTAAAACTGGAAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACT... | TCGCCAGAACTGCACTGAATAAATATTAATTGATGTAAGAATTAAACTAGTTGTCTGGGTGCGGTGGCTTACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGTGGTCAGGAGTTCGAGACCAGTCTGACCAATATGGTGAAACCCCCGTCTCTACTAAAAAAAAAAAAAAGAAAGAAAAATACAAAAATTAGCCAGGCATGGTGGCGAGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCACTTAAAACTGGAAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACT... | pathogenic | 59,058 |
Gene COL6A3 (collagen type VI alpha 3 chain) variant at chromosome position 237354960 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GCTGTAGCCACACAACAGAGTATCCTTCCATCATGTAAAGGAATGAAGTGCTTCTACATGCTGCAATGTGGATGAAGCTCAAGAACATGATGCTCCGTCAAGCCACACACACAAAGCTGCCTAGTAAATGATTCCATTTATACAAAATATCCATAGTGGGCAAATCCATAAAGAGAGAGAGATTAGTGGTTTCCAGGGACTCGGGGTGGAGGGTGATGGGGAGTGACTGCTAATGGGTACAGGTCTCCTTCGAGACTGTGTTTTGAACCTAGATAGAGGTGATGATTGCACAGCATTGTGGAAGTACCAAATGCCACTGG... | GCTGTAGCCACACAACAGAGTATCCTTCCATCATGTAAAGGAATGAAGTGCTTCTACATGCTGCAATGTGGATGAAGCTCAAGAACATGATGCTCCGTCAAGCCACACACACAAAGCTGCCTAGTAAATGATTCCATTTATACAAAATATCCATAGTGGGCAAATCCATAAAGAGAGAGAGATTAGTGGTTTCCAGGGACTCGGGGTGGAGGGTGATGGGGAGTGACTGCTAATGGGTACAGGTCTCCTTCGAGACTGTGTTTTGAACCTAGATAGAGGTGATGATTGCACAGCATTGTGGAAGTACCAAATGCCACTGG... | benign | 59,100 |
Variant in COL6A3, chromosome 2, position 237359234—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Bethlem_myopathy_1A'] | ATGAAAATAGATTGGAGTAACAACCGTTTCAGAAATCCTTTTACATTCACTCACTGCAGAGCTGTGGACTAACCATGCACCAGGTCATGTTGGGCAGATCTTATGGCACTAAGAATTGTCACAGAGCCCCCCAAAGCCCTAATGGCACTCACATTCTTCCCAGTTTCTCCAGGTCCTCCAGGTACTCCATCTCTCCCTGGGACACCCTGGTGTGGGGAAAATTAGCATGAGATTCTCATCTGCAGAGAAGAATGTCTAGCTCTGAAATGCTGCACAAGACATTGCAGGGAAAGGGGTCGATTCACAGAGGAAGAGCCCGT... | ATGAAAATAGATTGGAGTAACAACCGTTTCAGAAATCCTTTTACATTCACTCACTGCAGAGCTGTGGACTAACCATGCACCAGGTCATGTTGGGCAGATCTTATGGCACTAAGAATTGTCACAGAGCCCCCCAAAGCCCTAATGGCACTCACATTCTTCCCAGTTTCTCCAGGTCCTCCAGGTACTCCATCTCTCCCTGGGACACCCTGGTGTGGGGAAAATTAGCATGAGATTCTCATCTGCAGAGAAGAATGTCTAGCTCTGAAATGCTGCACAAGACATTGCAGGGAAAGGGGTCGATTCACAGAGGAAGAGCCCGT... | pathogenic | 59,116 |
Variant at chromosome position 237363239, chromosome 2, gene COL6A3 (collagen type VI alpha 3 chain): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GGGTCCTCTGTTTAATCCCGTGGTCTTCTTTGCTCTACAGTAAGAATCCCTGTGGTCCCCCTTCATTTGGCAGAGCAGCACTAAAACTCAGCATGGCTTTCCCTGTTACTGCTTTTCCCCTCAGTACACCATGTCACGATTCTCTCTATCAGGATCTCTAAGGCTCCTGCTCTGCCAAGAAAGCCTGTTAGTTCCTACTGACTCAGAGCAAATGCTATGAGTTCCAGCTGCCATTCGCAGCCAGGCTGCTGTCAGGGACGCCAGCTGCCTTTAACATTATTTTATGAAATGAAGGACCAAGCTGTTAAAGCACAGATCCC... | GGGTCCTCTGTTTAATCCCGTGGTCTTCTTTGCTCTACAGTAAGAATCCCTGTGGTCCCCCTTCATTTGGCAGAGCAGCACTAAAACTCAGCATGGCTTTCCCTGTTACTGCTTTTCCCCTCAGTACACCATGTCACGATTCTCTCTATCAGGATCTCTAAGGCTCCTGCTCTGCCAAGAAAGCCTGTTAGTTCCTACTGACTCAGAGCAAATGCTATGAGTTCCAGCTGCCATTCGCAGCCAGGCTGCTGTCAGGGACGCCAGCTGCCTTTAACATTATTTTATGAAATGAAGGACCAAGCTGTTAAAGCACAGATCCC... | benign | 59,154 |
For chromosome 2, position 237366706, gene COL6A3 (collagen type VI alpha 3 chain): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Bethlem_myopathy_1A'] | ACAATAAAAACAATTTTTATCTCATTCTCATATTTCTAAGATGTAGTTTCTGCGAATCATATGCATATGTGTGCATGCATGTGTGCGTGCATGTGTGTGCATGTGTGTGGGTACATATGTGTGTGTATGGGTGCATTGTGTGTGCATGTGTGTGCACGTGTGTGTGCATGTGTGGGTGTGTGGGTGTACATGTGTGTGGGTGCGTATGTGTGTGCATGTGTATGGGTGCATGTGCGTGCATGTGTGTGGGTGCATGTCTGTGGGTGTGTGTGCGTGTGTGCATGTGTGCATGTGTTATGGGCTAAATTGTGTCCCCTCAA... | ACAATAAAAACAATTTTTATCTCATTCTCATATTTCTAAGATGTAGTTTCTGCGAATCATATGCATATGTGTGCATGCATGTGTGCGTGCATGTGTGTGCATGTGTGTGGGTACATATGTGTGTGTATGGGTGCATTGTGTGTGCATGTGTGTGCACGTGTGTGTGCATGTGTGGGTGTGTGGGTGTACATGTGTGTGGGTGCGTATGTGTGTGCATGTGTATGGGTGCATGTGCGTGCATGTGTGTGGGTGCATGTCTGTGGGTGTGTGTGCGTGTGTGCATGTGTGCATGTGTTATGGGCTAAATTGTGTCCCCTCAA... | pathogenic | 59,172 |
Is the genetic change at chromosome 2, position 237371892, within gene COL6A3 (collagen type VI alpha 3 chain) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bethlem_myopathy_1A'] | TTTTTTTTTTCTGAGACATGGTCTCTTTCTATCTCCCAGGCTGGAGTGCAGTTGCACAGTCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCTCCTTATCCTCCAAGTAGCTGGAACTACAGACATGAACCACCATGCCTGTGCCTTTATTTTTTAAATTTCATTAAAATTTTTTTTTTTAATTTTTTGGATGAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCCCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGAATTATAGGCATGAGCCGCCATGCCCAGCTTC... | TTTTTTTTTTCTGAGACATGGTCTCTTTCTATCTCCCAGGCTGGAGTGCAGTTGCACAGTCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCTCCCTCCTTATCCTCCAAGTAGCTGGAACTACAGACATGAACCACCATGCCTGTGCCTTTATTTTTTAAATTTCATTAAAATTTTTTTTTTTAATTTTTTGGATGAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCCCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGAATTATAGGCATGAGCCGCCATGCCCAGCTTC... | pathogenic | 59,198 |
The mutation impacting COL6A3 (collagen type VI alpha 3 chain) on chromosome 2 at position 237374586: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bethlem_myopathy_1A', 'Ullrich_congenital_muscular_dystrophy_1A'] | GACGGAGGCAGAATCAGAAGAGCCTCATCAGCACCAGCGAGGATGGTACTTGGGAAGGACGTGACCTGCACTGCATCAGGTGCTGCTCAGGGACCCGAGGGTCAGCCACTGGGCTTCGCCAGAGACAGGGACCTTGTCAGATGGAGTGACCTCAACTGGAGCACTTGGGGGAGGAGCAAGGGTGAATGACAAAGTAGGGTGGGCTCAGAGAGGATGGGAGGAAAGGAACTTTAGAGTATAGATAAGTCTTTAGGAGACAGGTGCTGCTGGCAGGGGAAGTGGCGCATCAGAGAGGGTGTTTAAGAGAGAAGAAGCAATGC... | GACGGAGGCAGAATCAGAAGAGCCTCATCAGCACCAGCGAGGATGGTACTTGGGAAGGACGTGACCTGCACTGCATCAGGTGCTGCTCAGGGACCCGAGGGTCAGCCACTGGGCTTCGCCAGAGACAGGGACCTTGTCAGATGGAGTGACCTCAACTGGAGCACTTGGGGGAGGAGCAAGGGTGAATGACAAAGTAGGGTGGGCTCAGAGAGGATGGGAGGAAAGGAACTTTAGAGTATAGATAAGTCTTTAGGAGACAGGTGCTGCTGGCAGGGGAAGTGGCGCATCAGAGAGGGTGTTTAAGAGAGAAGAAGCAATGC... | pathogenic | 59,210 |
Is chromosome 2, position 237388132, gene COL6A3 (collagen type VI alpha 3 chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bethlem_myopathy_1A', 'COL6A3-related_disorder', 'Collagen_6-related_myopathy'] | CTGAGCTTTCTACCTGTAATTTTTATTACAACAAAAGCTGTGGTTTAAAATCATTTGAGGCAAGTTCAATCTAACTCAGTGTGAATTTTGTAACCCTTGTAAGGAAATGTGGTGTGTTGCCTTTACATGAATGCAGCAACTAGAACTAATGATTAGCAAGGCACTATTAAGTAGAGGTCAGCTCCTTAAATAAATAGATAGTGATGTTTTTAATTAAGACTTTAAAATCTTCTACTCTTAATTTCATACAATGGCATATTCTCCAAAATGGTTATTTTTAAATTATTTTCACTCCTTTATCAAAGGAAAACCTCCCTTGA... | CTGAGCTTTCTACCTGTAATTTTTATTACAACAAAAGCTGTGGTTTAAAATCATTTGAGGCAAGTTCAATCTAACTCAGTGTGAATTTTGTAACCCTTGTAAGGAAATGTGGTGTGTTGCCTTTACATGAATGCAGCAACTAGAACTAATGATTAGCAAGGCACTATTAAGTAGAGGTCAGCTCCTTAAATAAATAGATAGTGATGTTTTTAATTAAGACTTTAAAATCTTCTACTCTTAATTTCATACAATGGCATATTCTCCAAAATGGTTATTTTTAAATTATTTTCACTCCTTTATCAAAGGAAAACCTCCCTTGA... | pathogenic | 59,267 |
Variant on chromosome 2, at position 237388203, affecting COL6A3 (collagen type VI alpha 3 chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TAACTCAGTGTGAATTTTGTAACCCTTGTAAGGAAATGTGGTGTGTTGCCTTTACATGAATGCAGCAACTAGAACTAATGATTAGCAAGGCACTATTAAGTAGAGGTCAGCTCCTTAAATAAATAGATAGTGATGTTTTTAATTAAGACTTTAAAATCTTCTACTCTTAATTTCATACAATGGCATATTCTCCAAAATGGTTATTTTTAAATTATTTTCACTCCTTTATCAAAGGAAAACCTCCCTTGATCAATTGTAATTGATACAATGGGTAAAGCAGTATCTTATTACAATATTTATCTTGTAGACCCAGACTTTAT... | TAACTCAGTGTGAATTTTGTAACCCTTGTAAGGAAATGTGGTGTGTTGCCTTTACATGAATGCAGCAACTAGAACTAATGATTAGCAAGGCACTATTAAGTAGAGGTCAGCTCCTTAAATAAATAGATAGTGATGTTTTTAATTAAGACTTTAAAATCTTCTACTCTTAATTTCATACAATGGCATATTCTCCAAAATGGTTATTTTTAAATTATTTTCACTCCTTTATCAAAGGAAAACCTCCCTTGATCAATTGTAATTGATACAATGGGTAAAGCAGTATCTTATTACAATATTTATCTTGTAGACCCAGACTTTAT... | benign | 59,268 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 239190174, gene HDAC4 (histone deacetylase 4): what disease(s) if pathogenic? | benign | ACAGAGCTCTCCGGGCTCACCTTTGAAGCACAGGCACTCACAGAATGGTTTGGCACCCATGAGAGGGGACATGGAGCTGTCCCTGAGCCTGTCCTCCAGGGCCAGCCCAGCTTTGGGATGCAGCCTCCCCCACAATCTGCCACTAAGTCTACAGACAACTGATACTACTTTACCTCCATTTCTCGACAGTGATTATGAAATAAAGACACTGAACAAAGTGTCTTACATATAAAGGAAGGGAAACTGGGATCCTGTGGTCAAGAGAATTATCAGCTAGGGCAGAAACAGAGGGATGCACCCCTAAGCTACTCTGCACACTA... | ACAGAGCTCTCCGGGCTCACCTTTGAAGCACAGGCACTCACAGAATGGTTTGGCACCCATGAGAGGGGACATGGAGCTGTCCCTGAGCCTGTCCTCCAGGGCCAGCCCAGCTTTGGGATGCAGCCTCCCCCACAATCTGCCACTAAGTCTACAGACAACTGATACTACTTTACCTCCATTTCTCGACAGTGATTATGAAATAAAGACACTGAACAAAGTGTCTTACATATAAAGGAAGGGAAACTGGGATCCTGTGGTCAAGAGAATTATCAGCTAGGGCAGAAACAGAGGGATGCACCCCTAAGCTACTCTGCACACTA... | benign | 59,505 |
Clinical significance of chromosome 2, position 239959194, gene NDUFA10 (NADH:ubiquinone oxidoreductase subunit A10): benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATGCACAACCCTGCATCAGGGGCTTCCACCTGGGCCTCGCCCCTCAGCCACTGCTAGCATTTCTGCTCTCACTGCCACGTGTCCAGCGCTGAGATGCTGCCCGGGATGCAGGAGGCCCCATCAACGTTCACTGTAAGAAAACCCACATGACCACGCGTAACATGCCAGAGGAAACAGCTTTTTACAAATTAAAAGCTGGGATTTTTAATATAATCACCAGGTATAGTCTCATTAAAAACATGTTTATTCAATGAAACTACATAGCACTAAAATGAGAGCTTCCCAAAATGTAACCAGCAATTGGATCTAACTAACTAGGG... | ATGCACAACCCTGCATCAGGGGCTTCCACCTGGGCCTCGCCCCTCAGCCACTGCTAGCATTTCTGCTCTCACTGCCACGTGTCCAGCGCTGAGATGCTGCCCGGGATGCAGGAGGCCCCATCAACGTTCACTGTAAGAAAACCCACATGACCACGCGTAACATGCCAGAGGAAACAGCTTTTTACAAATTAAAAGCTGGGATTTTTAATATAATCACCAGGTATAGTCTCATTAAAAACATGTTTATTCAATGAAACTACATAGCACTAAAATGAGAGCTTCCCAAAATGTAACCAGCAATTGGATCTAACTAACTAGGG... | benign | 59,516 |
Variant chromosome 2, position 239961190, gene NDUFA10 (NADH:ubiquinone oxidoreductase subunit A10): benign or pathogenic? Disease(s)? | benign | ACAAATTACATACTTCCCACTCCATCAAGGGAATGCAACCACACAGGGTCAGACGCAAACACAGGGGATGATCAGAGCACCCGAGTCCACACCATGCCGACACGGAGCCCTGCATGGTTGGAGAGCTCTGCCCCTCACAAGGGCAATCCTGACCACAGGGCAGACCTGCCCTCTCACTGCTGAGGACACTACCCGTGCAACCACCAAGGTTGAAGGAAACAGCTAGCTCTTTGCAGCCAAAGACATTAGGAACAGCTAAGATAATTAAAGATGGCTTTCTTTTTCTTTCCTCCCCTCCACAATGGGTTTGTGAAGTGCTC... | ACAAATTACATACTTCCCACTCCATCAAGGGAATGCAACCACACAGGGTCAGACGCAAACACAGGGGATGATCAGAGCACCCGAGTCCACACCATGCCGACACGGAGCCCTGCATGGTTGGAGAGCTCTGCCCCTCACAAGGGCAATCCTGACCACAGGGCAGACCTGCCCTCTCACTGCTGAGGACACTACCCGTGCAACCACCAAGGTTGAAGGAAACAGCTAGCTCTTTGCAGCCAAAGACATTAGGAACAGCTAAGATAATTAAAGATGGCTTTCTTTTTCTTTCCTCCCCTCCACAATGGGTTTGTGAAGTGCTC... | benign | 59,526 |
Is the genetic change at chromosome 2, position 239961195, within gene NDUFA10 (NADH:ubiquinone oxidoreductase subunit A10) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTACATACTTCCCACTCCATCAAGGGAATGCAACCACACAGGGTCAGACGCAAACACAGGGGATGATCAGAGCACCCGAGTCCACACCATGCCGACACGGAGCCCTGCATGGTTGGAGAGCTCTGCCCCTCACAAGGGCAATCCTGACCACAGGGCAGACCTGCCCTCTCACTGCTGAGGACACTACCCGTGCAACCACCAAGGTTGAAGGAAACAGCTAGCTCTTTGCAGCCAAAGACATTAGGAACAGCTAAGATAATTAAAGATGGCTTTCTTTTTCTTTCCTCCCCTCCACAATGGGTTTGTGAAGTGCTCAGAGC... | TTACATACTTCCCACTCCATCAAGGGAATGCAACCACACAGGGTCAGACGCAAACACAGGGGATGATCAGAGCACCCGAGTCCACACCATGCCGACACGGAGCCCTGCATGGTTGGAGAGCTCTGCCCCTCACAAGGGCAATCCTGACCACAGGGCAGACCTGCCCTCTCACTGCTGAGGACACTACCCGTGCAACCACCAAGGTTGAAGGAAACAGCTAGCTCTTTGCAGCCAAAGACATTAGGAACAGCTAAGATAATTAAAGATGGCTTTCTTTTTCTTTCCTCCCCTCCACAATGGGTTTGTGAAGTGCTCAGAGC... | benign | 59,528 |
A mutation at chromosome position 240719206 on chromosome 2 in gene KIF1A (kinesin family member 1A): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CAAGAAGAACTGACACGCACAGCCTCTGCTGGGAGCACAGCTGGTCGTGTGGCACAGGTCCCCGGGCCTGGCATGGGCGTCCCCTGGGGGGTCGACCCGGTCGTGGGCTGTCTGGCAGGAGAGGGGCTGGGCGGCAGGTGACAGGACAGACGAGGATGAGGGAGGGGATGGGCTGGGCCTGCCGGCTGTCACGGGAGGGCTCAGGTTCAGACCCGCATCTGGGCAGACCTCCTTCTGGAGAGCTTGGACCTGCAGAAGAGTTGGGAGAGGCGGCGTGGTCAGGCCAGGAACACCTGCAGGCCATATCCACCGTGCCCTGC... | CAAGAAGAACTGACACGCACAGCCTCTGCTGGGAGCACAGCTGGTCGTGTGGCACAGGTCCCCGGGCCTGGCATGGGCGTCCCCTGGGGGGTCGACCCGGTCGTGGGCTGTCTGGCAGGAGAGGGGCTGGGCGGCAGGTGACAGGACAGACGAGGATGAGGGAGGGGATGGGCTGGGCCTGCCGGCTGTCACGGGAGGGCTCAGGTTCAGACCCGCATCTGGGCAGACCTCCTTCTGGAGAGCTTGGACCTGCAGAAGAGTTGGGAGAGGCGGCGTGGTCAGGCCAGGAACACCTGCAGGCCATATCCACCGTGCCCTGC... | benign | 59,625 |
Is the genetic variant on chromosome 2, position 240724047, gene KIF1A (kinesin family member 1A), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AGCACAGTGGGTCAAGGTGGGCAGCACCTCCACCCCGCCCAGGTCATCGGGTGAGCCCAGGAAGTCTCCCAGGGTCAGGCACCGGCTGAGGGCCTGGTGTGAGGGCCAGAGGCTGTGCTGCCTCCAGTGCAGGAGGCGCAGGAAGCCTTCCCAGAGGCCCGTTCAGCCGCCAAAAGAGCCACTTGTGGGTGGAAGTGGTGAGCTCCCCATCAGCACAGGTATTCAAGAGAGTGATTCATCGCTTGGGAAGGGAGGCTGCAAAAGGCACCCAACTTTCAGTGCAGGTGGGGTGCAGTCAGTGGGCAAGGGGACCCTAGGGA... | AGCACAGTGGGTCAAGGTGGGCAGCACCTCCACCCCGCCCAGGTCATCGGGTGAGCCCAGGAAGTCTCCCAGGGTCAGGCACCGGCTGAGGGCCTGGTGTGAGGGCCAGAGGCTGTGCTGCCTCCAGTGCAGGAGGCGCAGGAAGCCTTCCCAGAGGCCCGTTCAGCCGCCAAAAGAGCCACTTGTGGGTGGAAGTGGTGAGCTCCCCATCAGCACAGGTATTCAAGAGAGTGATTCATCGCTTGGGAAGGGAGGCTGCAAAAGGCACCCAACTTTCAGTGCAGGTGGGGTGCAGTCAGTGGGCAAGGGGACCCTAGGGA... | benign | 59,674 |
Is the genetic variant on chromosome 2, position 240757336, gene KIF1A (kinesin family member 1A), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_spastic_paraplegia_30', 'Intellectual_disability,_autosomal_dominant_9', 'KIF1A-related_disorder', 'Neuropathy,_hereditary_sensory,_type_2C', 'Neuropathy,_hereditary_sensory_and_autonomic,_type_2A'] | GACTGAAACCCAGCCCAAGAGAGGCAGCAGCAGAGGCAGACAGAGCGAGGGCTGAGTGTGGCGGGAGGGAGGGAGGAGGCAGGTGCTAACCACAGATTGGTGAGGTGCAAAGACGCATGCTGGGACCCAGGGAAGCCTTTCCAGAGGGGACAAGAGTGGGTGCCCCAATTTCGCTGAAGCTTTGGAGAGAGAGCCAGCAGCTACCAGAAGGTTAAAGGAAAATCAACGAGGGGCCTTCCCAGGGCCGGGCCTGCACAGCTGCTGCATGGGAGAAGCCAATTCTTGCCAAACCAAAAAGATCAAGATGATTCCCAATGAAG... | GACTGAAACCCAGCCCAAGAGAGGCAGCAGCAGAGGCAGACAGAGCGAGGGCTGAGTGTGGCGGGAGGGAGGGAGGAGGCAGGTGCTAACCACAGATTGGTGAGGTGCAAAGACGCATGCTGGGACCCAGGGAAGCCTTTCCAGAGGGGACAAGAGTGGGTGCCCCAATTTCGCTGAAGCTTTGGAGAGAGAGCCAGCAGCTACCAGAAGGTTAAAGGAAAATCAACGAGGGGCCTTCCCAGGGCCGGGCCTGCACAGCTGCTGCATGGGAGAAGCCAATTCTTGCCAAACCAAAAAGATCAAGATGATTCCCAATGAAG... | pathogenic | 59,746 |
The genetic variant at chromosome 2, position 240757423, affecting gene KIF1A (kinesin family member 1A): benign or pathogenic? Disease name(s) if pathogenic? | benign | AACCACAGATTGGTGAGGTGCAAAGACGCATGCTGGGACCCAGGGAAGCCTTTCCAGAGGGGACAAGAGTGGGTGCCCCAATTTCGCTGAAGCTTTGGAGAGAGAGCCAGCAGCTACCAGAAGGTTAAAGGAAAATCAACGAGGGGCCTTCCCAGGGCCGGGCCTGCACAGCTGCTGCATGGGAGAAGCCAATTCTTGCCAAACCAAAAAGATCAAGATGATTCCCAATGAAGCCCTTCACAGACCACCCCGCAATATGGGGGCCAGGTCTCTCTTTGATGACTTTTGTTTGGTTTGGTAGTTTCGTAAAATCTCAAATC... | AACCACAGATTGGTGAGGTGCAAAGACGCATGCTGGGACCCAGGGAAGCCTTTCCAGAGGGGACAAGAGTGGGTGCCCCAATTTCGCTGAAGCTTTGGAGAGAGAGCCAGCAGCTACCAGAAGGTTAAAGGAAAATCAACGAGGGGCCTTCCCAGGGCCGGGCCTGCACAGCTGCTGCATGGGAGAAGCCAATTCTTGCCAAACCAAAAAGATCAAGATGATTCCCAATGAAGCCCTTCACAGACCACCCCGCAATATGGGGGCCAGGTCTCTCTTTGATGACTTTTGTTTGGTTTGGTAGTTTCGTAAAATCTCAAATC... | benign | 59,748 |
Gene mutation in KIF1A (kinesin family member 1A) at chromosome 2, position 240757423—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AACCACAGATTGGTGAGGTGCAAAGACGCATGCTGGGACCCAGGGAAGCCTTTCCAGAGGGGACAAGAGTGGGTGCCCCAATTTCGCTGAAGCTTTGGAGAGAGAGCCAGCAGCTACCAGAAGGTTAAAGGAAAATCAACGAGGGGCCTTCCCAGGGCCGGGCCTGCACAGCTGCTGCATGGGAGAAGCCAATTCTTGCCAAACCAAAAAGATCAAGATGATTCCCAATGAAGCCCTTCACAGACCACCCCGCAATATGGGGGCCAGGTCTCTCTTTGATGACTTTTGTTTGGTTTGGTAGTTTCGTAAAATCTCAAATC... | AACCACAGATTGGTGAGGTGCAAAGACGCATGCTGGGACCCAGGGAAGCCTTTCCAGAGGGGACAAGAGTGGGTGCCCCAATTTCGCTGAAGCTTTGGAGAGAGAGCCAGCAGCTACCAGAAGGTTAAAGGAAAATCAACGAGGGGCCTTCCCAGGGCCGGGCCTGCACAGCTGCTGCATGGGAGAAGCCAATTCTTGCCAAACCAAAAAGATCAAGATGATTCCCAATGAAGCCCTTCACAGACCACCCCGCAATATGGGGGCCAGGTCTCTCTTTGATGACTTTTGTTTGGTTTGGTAGTTTCGTAAAATCTCAAATC... | benign | 59,749 |
Is chromosome 2, position 240783102, gene KIF1A (kinesin family member 1A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_spastic_paraplegia_30', 'Intellectual_disability,_autosomal_dominant_9', 'Neuropathy,_hereditary_sensory,_type_2C', 'Spastic_paraplegia_30b,_autosomal_recessive'] | CACACACACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTC... | CACACACACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTC... | pathogenic | 59,845 |
Assess the variant on chromosome 2, position 240868867, impacting AGXT (alanine--glyoxylate aminotransferase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Primary_hyperoxaluria,_type_I'] | TGTGCTGTCATCAACAGGACCCGTTGCACCTACATTTATGTGTCTGGAGAAGTGGAAACCGATGCCCAAGAAATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAG... | TGTGCTGTCATCAACAGGACCCGTTGCACCTACATTTATGTGTCTGGAGAAGTGGAAACCGATGCCCAAGAAATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAG... | pathogenic | 59,924 |
Is the genetic mutation found on chromosome 2 at position 240868890, within the gene AGXT (alanine--glyoxylate aminotransferase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['AGXT-related_disorder', 'Alanine_glyoxylate_aminotransferase_deficiency', 'Nephrotic_syndrome', 'Primary_hyperoxaluria', 'Primary_hyperoxaluria,_type_I'] | TTGCACCTACATTTATGTGTCTGGAGAAGTGGAAACCGATGCCCAAGAAATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTG... | TTGCACCTACATTTATGTGTCTGGAGAAGTGGAAACCGATGCCCAAGAAATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTG... | pathogenic | 59,925 |
The genetic variant at chromosome 2, position 240868890, affecting gene AGXT (alanine--glyoxylate aminotransferase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['AGXT-related_disorder', 'Primary_hyperoxaluria', 'Primary_hyperoxaluria,_type_I'] | TTGCACCTACATTTATGTGTCTGGAGAAGTGGAAACCGATGCCCAAGAAATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTG... | TTGCACCTACATTTATGTGTCTGGAGAAGTGGAAACCGATGCCCAAGAAATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTG... | pathogenic | 59,926 |
Evaluate if the mutation on chromosome 2 at position 240868980 in AGXT (alanine--glyoxylate aminotransferase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Primary_hyperoxaluria', 'Primary_hyperoxaluria,_type_I'] | CAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATG... | CAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATG... | pathogenic | 59,934 |
Gene AGXT (alanine--glyoxylate aminotransferase) variant at chromosome position 240868985 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Primary_hyperoxaluria,_type_I'] | AAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCT... | AAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCT... | pathogenic | 59,935 |
Mutation found at chromosome 2 position 240868985, gene AGXT (alanine--glyoxylate aminotransferase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Primary_hyperoxaluria', 'Primary_hyperoxaluria,_type_I'] | AAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCT... | AAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCT... | pathogenic | 59,936 |
Variant at chromosome position 240869253, chromosome 2, gene AGXT (alanine--glyoxylate aminotransferase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Primary_hyperoxaluria,_type_I'] | CTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGA... | CTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGA... | pathogenic | 59,953 |
Chromosome 2, position 240869326, gene AGXT (alanine--glyoxylate aminotransferase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Primary_hyperoxaluria,_type_I'] | GCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCA... | GCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCA... | pathogenic | 59,957 |
Regarding the variant at chromosome 2 and position 240870639, affecting gene AGXT (alanine--glyoxylate aminotransferase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Primary_hyperoxaluria,_type_I'] | GAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTC... | GAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTC... | pathogenic | 59,965 |
Mutation found at chromosome 2 position 240870655, gene AGXT (alanine--glyoxylate aminotransferase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Primary_hyperoxaluria,_type_I'] | ACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCC... | ACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCC... | pathogenic | 59,968 |
Is the genetic variant on chromosome 2, position 240871355, gene AGXT (alanine--glyoxylate aminotransferase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Primary_hyperoxaluria,_type_I'] | GGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGA... | GGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGA... | pathogenic | 59,976 |
Gene AGXT (alanine--glyoxylate aminotransferase) variant at chromosome 2, position 240871369—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Primary_hyperoxaluria', 'Primary_hyperoxaluria,_type_I'] | GCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGA... | GCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGA... | pathogenic | 59,977 |
Benign or pathogenic: chromosome 2, position 240873021, gene AGXT (alanine--glyoxylate aminotransferase) variant? Disease(s) if pathogenic? | pathogenic; ['Primary_hyperoxaluria', 'Primary_hyperoxaluria,_type_I'] | TGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGG... | TGGAGGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGG... | pathogenic | 59,998 |
Determine if the mutation at chromosome 2, position 240873025 in gene AGXT (alanine--glyoxylate aminotransferase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Primary_hyperoxaluria', 'Primary_hyperoxaluria,_type_I'] | GGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTG... | GGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTG... | pathogenic | 60,000 |
Evaluate this variant at chromosome 2, position 240873025, gene AGXT (alanine--glyoxylate aminotransferase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Primary_hyperoxaluria', 'Primary_hyperoxaluria,_type_I'] | GGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTG... | GGCAGGAGGCCGAGTTGGAGTCTAGGCTGCAGAACATGTCCCTGACACTCAGGATACCCCACCCTGTGGGCTGAAGTCAACCTCAGCCTACCCGGAGTGTGGGGACTCAGTCCATCTAGCAACAGCCCTCACAGGCCAGGCAACAGGCTGGGGGCACCCTCCTCCATCTCTGCACCAAAGTCCTGTTCTTGGAAAAGCCCTTGTCCCGGAGCGGAGATGCCCCAGCCTCCTCCTCCCATGCACACCATCAGGGAGGAGTAGAGGCAGGCCCAGCCCCTGCTACCTGGAGCTGTGCCACCCATGGGGGGTTTGTGGGGGTG... | pathogenic | 60,001 |
Is the genetic change at chromosome 2, position 240874054, within gene AGXT (alanine--glyoxylate aminotransferase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Primary_hyperoxaluria,_type_I'] | GCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGA... | GCATGGACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGA... | pathogenic | 60,018 |
Determine whether the variant at chromosome 2, position 240874060, in gene AGXT (alanine--glyoxylate aminotransferase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Primary_hyperoxaluria,_type_I'] | ACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGA... | ACCGTGGCCATGAATAAAGCTCACAAACATAACCTGGCCAGCTTCAGCAACACCCAGGCCATCCCCACCTGCGGCCAGCACGAGATACTTTCTGTGTCTCTTTTTTCTTTATAAGAAAACCTGGAGGTGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGTAGGTGGAGGAGGATAAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGA... | pathogenic | 60,019 |
The mutation impacting AGXT (alanine--glyoxylate aminotransferase) on chromosome 2 at position 240875964: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Primary_hyperoxaluria,_type_I'] | CCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGT... | CCGCTGGACTGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGT... | pathogenic | 60,041 |
The mutation in gene AGXT (alanine--glyoxylate aminotransferase) at chromosome 2, position 240875973—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Primary_hyperoxaluria', 'Primary_hyperoxaluria,_type_I'] | TGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCC... | TGGCCTGCCCTGAGGTGGGACTCACCCGTCCCGAGCAAACCACCCATCTACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCCACAGACCCTCACCTCTGTGCAGGGCTGGGCTTGCAGGGAGCTCAGGTGGCCCGAGGCGGGAGGGGCGGGAGCCAGGCAGGAAGGGCTCCCCATGCTCCTCCAGCACCTGGCGCTCTCCCGCCCACCCTCTGGGAGGCCAAAGGCACTGCGTTCACAGGGAGTGGGGAGGCC... | pathogenic | 60,042 |
Considering the genetic mutation at chromosome 2, position 240878047, impacting AGXT (alanine--glyoxylate aminotransferase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Primary_hyperoxaluria,_type_I'] | GAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCC... | GAACAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCC... | pathogenic | 60,059 |
Evaluate the clinical significance of the mutation at chromosome 2, position 240878050 in gene AGXT (alanine--glyoxylate aminotransferase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Primary_hyperoxaluria,_type_I'] | CAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGA... | CAGGTGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGA... | pathogenic | 60,060 |
Classify the chromosome 2 variant at position 240878054 affecting gene AGXT (alanine--glyoxylate aminotransferase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Primary_hyperoxaluria', 'Primary_hyperoxaluria,_type_I'] | TGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATG... | TGCATGGGCTGCACTCCACAGGAGGAGACAGGGCCACTGGCTGGATTGTCGAGGGCGCGGCCTGCAGAGAAGGAACCATCCCTGGTGCACAGAGAAAAGGGAGCCTGCCAGAGAGAGGCCCTCAGTGGGGGTGGGGGAGAGAGGACAGGGCCCCGGGTACACTGGCTGCGGGCAGGGCCAGGGGGATACAGCCCCAGGGACAGATGCAGCAATGGGGCAGGTGTGGATGCTCCCAACCCTTCCATTGCTGTGTGAAGCAGTAAGTGAGGCCCAGTGAGTGGGTGGGCTGGGAGAAGGGGAGGCCGAAGGGGCCAGAGATG... | pathogenic | 60,061 |
A genetic alteration at chromosome 3, position 3137329, in gene TRNT1 (tRNA nucleotidyl transferase 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Congenital_sideroblastic_anemia-B-cell_immunodeficiency-periodic_fever-developmental_delay_syndrome', 'TRNT1-related_disorder'] | TACAGACAGTGTGATGCAGAGTTTAGCAAGAGATGAGACAAATAGGTCATGGAAGCCTTTGGATATAGCACTGAGGAATTTGGGTACTGTGTTGTGAGTAGTTAGGAGGAGCAGTTAATGCGTAGCGTAATTAACCTAGTGTTTTAAATCCCTATGTCTAGATGGTGGAGGCTGGATTTAAGGGAGGTGATGTGGTCCCAGAAGTGGGCTTTCATGGGAAATGTGGCATTAGGGGAATATGAACACTTCCCCTTGGGGAGAGCTTGTGGAAAAGATATCCTTAATTAAGTCAAGAGGGTAGGGAGCATTTGTTACTTTTA... | TACAGACAGTGTGATGCAGAGTTTAGCAAGAGATGAGACAAATAGGTCATGGAAGCCTTTGGATATAGCACTGAGGAATTTGGGTACTGTGTTGTGAGTAGTTAGGAGGAGCAGTTAATGCGTAGCGTAATTAACCTAGTGTTTTAAATCCCTATGTCTAGATGGTGGAGGCTGGATTTAAGGGAGGTGATGTGGTCCCAGAAGTGGGCTTTCATGGGAAATGTGGCATTAGGGGAATATGAACACTTCCCCTTGGGGAGAGCTTGTGGAAAAGATATCCTTAATTAAGTCAAGAGGGTAGGGAGCATTTGTTACTTTTA... | pathogenic | 60,327 |
Variant at chromosome 3, position 3140539, gene TRNT1 (tRNA nucleotidyl transferase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Congenital_sideroblastic_anemia-B-cell_immunodeficiency-periodic_fever-developmental_delay_syndrome'] | TACTGTGCAGGGCACTTAGTGGGCCCTCATGTTTCTTTCATAATTTCATCCCTTTTGTTAAATGCTTTTTCCTTTGGAAACTCTTATTATTTGGATCCTGGATTGCTGGGACTGACCTTCTAGTTTTATCTTTTGTCTTTATTTTATATTCTCCTGTCTTACTTTCTATGAGAGTGCCTTAACTTCATCTCCCAGTCATTGTATAATACTGACAACTTCTGTGGTCTTGTAGAATTTCAAGAGGTCTTTCTTAGTATATTTCTTTGGAAAGCTTCCCGTTCATGTTTCAGATGGAAGATCTTTTATTTCTCTTAGGATAT... | TACTGTGCAGGGCACTTAGTGGGCCCTCATGTTTCTTTCATAATTTCATCCCTTTTGTTAAATGCTTTTTCCTTTGGAAACTCTTATTATTTGGATCCTGGATTGCTGGGACTGACCTTCTAGTTTTATCTTTTGTCTTTATTTTATATTCTCCTGTCTTACTTTCTATGAGAGTGCCTTAACTTCATCTCCCAGTCATTGTATAATACTGACAACTTCTGTGGTCTTGTAGAATTTCAAGAGGTCTTTCTTAGTATATTTCTTTGGAAAGCTTCCCGTTCATGTTTCAGATGGAAGATCTTTTATTTCTCTTAGGATAT... | pathogenic | 60,333 |
Considering the variant on chromosome 3, location 3144580, involving gene TRNT1 (tRNA nucleotidyl transferase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TAAAAGGATGATATTCAGAGCAAAACAAAATACACACCAGTATGATGCTTACTAAGCTTTGTGTAGTTTTCTATCCTGGCTTTTTCCAAGCCTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTTCCCAAACGCTTATTTTTGCTTTGATCATATTCCTATGATTTTTTCCTCCAAATTTTGATCTTGCCTTTAGGTTCCCCAGGGACGGTTACAAGTCTCTTCATTAGGAGAAATAACACCAAGATGGATATACCATATTATTTGCTACTTTGTGATCATATTTTTGCCTATTTACATAT... | TAAAAGGATGATATTCAGAGCAAAACAAAATACACACCAGTATGATGCTTACTAAGCTTTGTGTAGTTTTCTATCCTGGCTTTTTCCAAGCCTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTTCCCAAACGCTTATTTTTGCTTTGATCATATTCCTATGATTTTTTCCTCCAAATTTTGATCTTGCCTTTAGGTTCCCCAGGGACGGTTACAAGTCTCTTCATTAGGAGAAATAACACCAAGATGGATATACCATATTATTTGCTACTTTGTGATCATATTTTTGCCTATTTACATAT... | benign | 60,338 |
Does the variant impacting TRNT1 (tRNA nucleotidyl transferase 1) on chromosome 3, position 3144596, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Congenital_sideroblastic_anemia-B-cell_immunodeficiency-periodic_fever-developmental_delay_syndrome', 'Retinal_dystrophy', 'Retinitis_pigmentosa_and_erythrocytic_microcytosis', 'TRNT1-related_disorder'] | AGAGCAAAACAAAATACACACCAGTATGATGCTTACTAAGCTTTGTGTAGTTTTCTATCCTGGCTTTTTCCAAGCCTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTTCCCAAACGCTTATTTTTGCTTTGATCATATTCCTATGATTTTTTCCTCCAAATTTTGATCTTGCCTTTAGGTTCCCCAGGGACGGTTACAAGTCTCTTCATTAGGAGAAATAACACCAAGATGGATATACCATATTATTTGCTACTTTGTGATCATATTTTTGCCTATTTACATATTTTCTTTTTATCATTT... | AGAGCAAAACAAAATACACACCAGTATGATGCTTACTAAGCTTTGTGTAGTTTTCTATCCTGGCTTTTTCCAAGCCTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTTCCCAAACGCTTATTTTTGCTTTGATCATATTCCTATGATTTTTTCCTCCAAATTTTGATCTTGCCTTTAGGTTCCCCAGGGACGGTTACAAGTCTCTTCATTAGGAGAAATAACACCAAGATGGATATACCATATTATTTGCTACTTTGTGATCATATTTTTGCCTATTTACATATTTTCTTTTTATCATTT... | pathogenic | 60,339 |
Evaluate if the mutation on chromosome 3 at position 3144641 in TRNT1 (tRNA nucleotidyl transferase 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Congenital_sideroblastic_anemia-B-cell_immunodeficiency-periodic_fever-developmental_delay_syndrome', 'Inborn_genetic_diseases', 'Retinal_dystrophy', 'TRNT1-related_disorder'] | TGTAGTTTTCTATCCTGGCTTTTTCCAAGCCTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTTCCCAAACGCTTATTTTTGCTTTGATCATATTCCTATGATTTTTTCCTCCAAATTTTGATCTTGCCTTTAGGTTCCCCAGGGACGGTTACAAGTCTCTTCATTAGGAGAAATAACACCAAGATGGATATACCATATTATTTGCTACTTTGTGATCATATTTTTGCCTATTTACATATTTTCTTTTTATCATTTTCTTTTATGTCTTTTTGAATCTGGAGCCTTCGAAATTTGCCATGT... | TGTAGTTTTCTATCCTGGCTTTTTCCAAGCCTTATTGGATCAAGCATTCATAGTTCTGGCATTTATGGTTGGTTACTTTGCTTCCCAAACGCTTATTTTTGCTTTGATCATATTCCTATGATTTTTTCCTCCAAATTTTGATCTTGCCTTTAGGTTCCCCAGGGACGGTTACAAGTCTCTTCATTAGGAGAAATAACACCAAGATGGATATACCATATTATTTGCTACTTTGTGATCATATTTTTGCCTATTTACATATTTTCTTTTTATCATTTTCTTTTATGTCTTTTTGAATCTGGAGCCTTCGAAATTTGCCATGT... | pathogenic | 60,341 |
Gene TRNT1 (tRNA nucleotidyl transferase 1) variant at chromosome 3, position 3147456—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CAGGAGGATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTC... | CAGGAGGATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTC... | benign | 60,350 |
Mutation found at chromosome 3 position 3147507, gene TRNT1 (tRNA nucleotidyl transferase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Congenital_sideroblastic_anemia-B-cell_immunodeficiency-periodic_fever-developmental_delay_syndrome'] | TGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAG... | TGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGATCTTGGATAAACTTGGTAAATATGAAACGCATGACTAGTTTTGTGGGTAGCAATGATGTTTAAATGTCACACACTAACCTTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAG... | pathogenic | 60,352 |
Clinical classification of chromosome 3, position 3147656, gene TRNT1 (tRNA nucleotidyl transferase 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Congenital_sideroblastic_anemia-B-cell_immunodeficiency-periodic_fever-developmental_delay_syndrome', 'Retinitis_pigmentosa_and_erythrocytic_microcytosis'] | TTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAGACTTAGCTGTATTTGTATCACTAATCCAGATTTAGCATTAATTTACTTATTTAGCATCACTTTGGACCGCTGATGAATTCATTAGAATTTTAAGGGCATGAGAGGGAAACACATGCACGTTAGGGCTTCCAGTTCTAAGATTCCGCGAA... | TTTTTAAAAAACTATCCGAATTGGCTAGTTTATGTCAAGTAATATTCATTTTTCACTGGTTGGGATTGCTCTCAGAATATTCTATAACAGAACATGGATATTTTGTCAATGTAGTTTCTCTAAACTTGAGTATTTGTAGTCTGTCTTATAAATAATAGAACATAGATTAAGACTTAGCTGTATTTGTATCACTAATCCAGATTTAGCATTAATTTACTTATTTAGCATCACTTTGGACCGCTGATGAATTCATTAGAATTTTAAGGGCATGAGAGGGAAACACATGCACGTTAGGGCTTCCAGTTCTAAGATTCCGCGAA... | pathogenic | 60,356 |
Evaluate this variant at chromosome 3, position 3148051, gene TRNT1 (tRNA nucleotidyl transferase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Congenital_sideroblastic_anemia-B-cell_immunodeficiency-periodic_fever-developmental_delay_syndrome'] | CAAGCTTTGAGGAATTCAGACTACTCTGTTAAGGCACTGCAGTCTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTG... | CAAGCTTTGAGGAATTCAGACTACTCTGTTAAGGCACTGCAGTCTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTG... | pathogenic | 60,359 |
Determine whether the variant at chromosome 3, position 3148094, in gene TRNT1 (tRNA nucleotidyl transferase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Congenital_sideroblastic_anemia-B-cell_immunodeficiency-periodic_fever-developmental_delay_syndrome', 'Retinal_dystrophy', 'Retinitis_pigmentosa_and_erythrocytic_microcytosis', 'TRNT1-related_disorder'] | CTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTGTTTTCATTAAGCAGATGTATGGGATAGTACCAATAAAAATGAA... | CTTGTTTTGGTTTGCTGCCTTTACAAGAATGCTGTTTTTTTTTTCATCTAGTATAAGTGCCAATTCAGGAATTGCATTTGATGACCATTCGGAATGTCTTGAGTCAGTAATTTGGAAGTGAGGTGGAGACCTTGAAGTTTTAGTTCTTGCTAACCTCAAAAAGGCTACTTATATTTTATTCGATCCTGGGTTTTCTTATCTGGGAAAAGAAAGAGGAGGTGGAGAAATGACCAGTTGCTTTCTAAGGTCCCTTCTAGACCTAACTAATTATATGTTGTTTTCATTAAGCAGATGTATGGGATAGTACCAATAAAAATGAA... | pathogenic | 60,360 |
Is the variant located on chromosome 3 at position 4376373, gene SUMF1 (sulfatase modifying factor 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Multiple_sulfatase_deficiency'] | TGCAAGGTTGCAAGACTCAAGATGAACATAAAAAATCAGTACCATGTAAGTGTACTTAATAAAGTATGTAGGAGTTTAAAAGATATTTTTAAAGAATCTACTGGGAAGCTTATAAAAATGTAGATTACAAATAAGCTAAAAGTTATAAAACATGAAAGTAGATACATTCATACGCATGGAATTAGGACAGTTAATGTCCTTTACTTGCTTAAAATGTTTTTTACAAGCTTCTGTTACCCCATTTATTCTTGATGAAAAATCTTCTGGTCCTCAATTACTTAGAAAGTAAATGGATTCTGAATTTAGAAAAGTGCCATATG... | TGCAAGGTTGCAAGACTCAAGATGAACATAAAAAATCAGTACCATGTAAGTGTACTTAATAAAGTATGTAGGAGTTTAAAAGATATTTTTAAAGAATCTACTGGGAAGCTTATAAAAATGTAGATTACAAATAAGCTAAAAGTTATAAAACATGAAAGTAGATACATTCATACGCATGGAATTAGGACAGTTAATGTCCTTTACTTGCTTAAAATGTTTTTTACAAGCTTCTGTTACCCCATTTATTCTTGATGAAAAATCTTCTGGTCCTCAATTACTTAGAAAGTAAATGGATTCTGAATTTAGAAAAGTGCCATATG... | pathogenic | 60,403 |
Located at chromosome 3 position 4417135, the variant affecting gene SUMF1 (sulfatase modifying factor 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Multiple_sulfatase_deficiency'] | TATTGTGGTGCACAGCTATAATCCTAGCTACTAAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGGAGTGAGCCACGATCACGCCACTGCACTCCAGCCTCGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAACAGACAGAAAAATAAAAGAAATGATTATCACGGTCTTGTCCAAATGAGGGCCACAAAAGCCATCACCTGTGTCTTTGGAATGGAGCTCATTTCAAATGAGCATATGATTATGCCAACAAAAGAATGGTGAGAAAGGAACTCTTGTACACCCATAAAGGAAA... | TATTGTGGTGCACAGCTATAATCCTAGCTACTAAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGGAGTGAGCCACGATCACGCCACTGCACTCCAGCCTCGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAACAGACAGAAAAATAAAAGAAATGATTATCACGGTCTTGTCCAAATGAGGGCCACAAAAGCCATCACCTGTGTCTTTGGAATGGAGCTCATTTCAAATGAGCATATGATTATGCCAACAAAAGAATGGTGAGAAAGGAACTCTTGTACACCCATAAAGGAAA... | pathogenic | 60,413 |
Is the genetic variant on chromosome 3, position 4417241, gene SUMF1 (sulfatase modifying factor 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Multiple_sulfatase_deficiency'] | CTCCAGCCTCGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAACAGACAGAAAAATAAAAGAAATGATTATCACGGTCTTGTCCAAATGAGGGCCACAAAAGCCATCACCTGTGTCTTTGGAATGGAGCTCATTTCAAATGAGCATATGATTATGCCAACAAAAGAATGGTGAGAAAGGAACTCTTGTACACCCATAAAGGAAAACATGCCCCAAGTGTTCTGGAAAATAATTCAACCATATATCTGAAACTCTTACCAAGAAAAGTTTTCTAACCTTTGACTCAATCATTTCACTGCTGGGAATCTATC... | CTCCAGCCTCGGCAACAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAAAAACAGACAGAAAAATAAAAGAAATGATTATCACGGTCTTGTCCAAATGAGGGCCACAAAAGCCATCACCTGTGTCTTTGGAATGGAGCTCATTTCAAATGAGCATATGATTATGCCAACAAAAGAATGGTGAGAAAGGAACTCTTGTACACCCATAAAGGAAAACATGCCCCAAGTGTTCTGGAAAATAATTCAACCATATATCTGAAACTCTTACCAAGAAAAGTTTTCTAACCTTTGACTCAATCATTTCACTGCTGGGAATCTATC... | pathogenic | 60,416 |
For chromosome 3, position 4418043, gene SUMF1 (sulfatase modifying factor 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Multiple_sulfatase_deficiency'] | AATTTCTGTTGTTTACAAATTATCCAGTCTGTAGTATTTTCTTACAGTAGCACAAAGGGACTAAGACTAAGACATGGCTTTATGAGTATATGATTATGCCAGCAAAAGAACGGTGAGAAAAGATTTCTTATACACCAATAGAGGAAAACATGCCCCAAGCATTCTGGAAAACAGTTTGGCCATATATCTGAAACTCTTACCCAGAAAGTTTTCTAGACTTTGAATTATTTCACTGCTGGGAATCTAATCTATCTTTCAAAAATCATCAAAGACGTAGGTTAATATTTATGTACAAGATGTTCACTGTAGAAAAAAAAAAC... | AATTTCTGTTGTTTACAAATTATCCAGTCTGTAGTATTTTCTTACAGTAGCACAAAGGGACTAAGACTAAGACATGGCTTTATGAGTATATGATTATGCCAGCAAAAGAACGGTGAGAAAAGATTTCTTATACACCAATAGAGGAAAACATGCCCCAAGCATTCTGGAAAACAGTTTGGCCATATATCTGAAACTCTTACCCAGAAAGTTTTCTAGACTTTGAATTATTTCACTGCTGGGAATCTAATCTATCTTTCAAAAATCATCAAAGACGTAGGTTAATATTTATGTACAAGATGTTCACTGTAGAAAAAAAAAAC... | pathogenic | 60,418 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 4453040, gene SUMF1 (sulfatase modifying factor 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Multiple_sulfatase_deficiency'] | GCAGTTCTTGGTCCTTTTTGAGCTCCTTGGCAGTATGGTGAAGCTTAAGAACCCCCTTCTCAGAATAAAATGTTTAAATGCATAAAATAAAATCAATAAAAAAATAAAATAAAATAAATAGTATTATGAAGAAAAGTCATTATATCAAAATATTAATAAACAAACCAGTGCTATAGTATTAAATATGCTCTTCATTAATATATTAAATAAGATCTAGTGGCAGGTCTCATAATTATCATATTTCAAAGTGGGGATGAATGCAAACAATATTTCAAGATCTCTGCAACAACAAAAATATGATTAAAAATGTCTGTGATTTC... | GCAGTTCTTGGTCCTTTTTGAGCTCCTTGGCAGTATGGTGAAGCTTAAGAACCCCCTTCTCAGAATAAAATGTTTAAATGCATAAAATAAAATCAATAAAAAAATAAAATAAAATAAATAGTATTATGAAGAAAAGTCATTATATCAAAATATTAATAAACAAACCAGTGCTATAGTATTAAATATGCTCTTCATTAATATATTAAATAAGATCTAGTGGCAGGTCTCATAATTATCATATTTCAAAGTGGGGATGAATGCAAACAATATTTCAAGATCTCTGCAACAACAAAAATATGATTAAAAATGTCTGTGATTTC... | pathogenic | 60,439 |
Is the genetic variant on chromosome 3, position 4645612, gene ITPR1 (inositol 1,4,5-trisphosphate receptor type 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Spinocerebellar_ataxia_type_15/16', 'Spinocerebellar_ataxia_type_29'] | GTGTTACATCACATAATGATAAGTATTGTTTTTTTGGGGGGGGGGTAACTTTTGTTTTAGTTACATATATATATAGTATTATAATTATAGAAACATGCGTATAAGTCTCAATGGCTGTATATATGACTTGATCATAGACCATGTATTTCCGAATGTTATAGTAAAAATATGAAAGTAATTGTTTTAGAAACATAAAGTTATGGCTTTGTCAAAGATAAAGACTTACTCTGACTCTATCTTGTTTTTTCTTAAATTTAGTTAAAACTTACTTATATAGGTACCTTAAACTGAACAGTTTTTTTTTTTTTTCCTGCTCTGAA... | GTGTTACATCACATAATGATAAGTATTGTTTTTTTGGGGGGGGGGTAACTTTTGTTTTAGTTACATATATATATAGTATTATAATTATAGAAACATGCGTATAAGTCTCAATGGCTGTATATATGACTTGATCATAGACCATGTATTTCCGAATGTTATAGTAAAAATATGAAAGTAATTGTTTTAGAAACATAAAGTTATGGCTTTGTCAAAGATAAAGACTTACTCTGACTCTATCTTGTTTTTTCTTAAATTTAGTTAAAACTTACTTATATAGGTACCTTAAACTGAACAGTTTTTTTTTTTTTTCCTGCTCTGAA... | pathogenic | 60,471 |
A genetic variant at chromosome 3, position 4660972, affecting gene ITPR1 (inositol 1,4,5-trisphosphate receptor type 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TTGTGTTATATAATTTCATCTTTCTCAAAAAACCCAGTGAGAGATAGGTATTGCTATCACCCTTTCTTGTAGATGAAGAAGCTGAGGCTCAGAGAGTTTAAGCAACATATCATAAGTCAGTGAGTCCCGTAGCAGAACCCAAAATCTTAAATGTTTAAGACACATAGGGTTATTTGGGCAATTCTGACTCTCCAATACCATGTTGGTTAATGGAAATGTCACTGTCATTTATGGATTACACGTATGGCCCCTCGTGAAGTATTAGTTGTGTTTCATCCATTCAGAGGTAGCTACTGGTAACATTTTTGTTTATGTAGTTT... | TTGTGTTATATAATTTCATCTTTCTCAAAAAACCCAGTGAGAGATAGGTATTGCTATCACCCTTTCTTGTAGATGAAGAAGCTGAGGCTCAGAGAGTTTAAGCAACATATCATAAGTCAGTGAGTCCCGTAGCAGAACCCAAAATCTTAAATGTTTAAGACACATAGGGTTATTTGGGCAATTCTGACTCTCCAATACCATGTTGGTTAATGGAAATGTCACTGTCATTTATGGATTACACGTATGGCCCCTCGTGAAGTATTAGTTGTGTTTCATCCATTCAGAGGTAGCTACTGGTAACATTTTTGTTTATGTAGTTT... | benign | 60,509 |
Determine if the mutation at chromosome 3, position 4669634 in gene ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CTGCCTGTAAGATGCAGGGACTTAGCTGGTGCTTTTTACTACGTTTCCTTGTGCTGCTAGTGACAAGTTTTGATTAGTTAGGTCTGGAGAGGCTTTTTGATGAGTAGTGGCAAGAACTTGGTGTTAAAATGAGACCTGGGGGTGCATTCCTAGCTCCAGTGTGTCCCACCTGGATGAGCTTGGGTTTTTTCCTGAACTTTAATTTCCTTATCTGCTAAATGGGTAGTTATGAAAATTAAATGAGAATAAACGCAGGTGACGTGCAGGCACTTAGTGGATGCAGAGGAAATGACAAATTGTTGGCCACTCATTCACTTTTT... | CTGCCTGTAAGATGCAGGGACTTAGCTGGTGCTTTTTACTACGTTTCCTTGTGCTGCTAGTGACAAGTTTTGATTAGTTAGGTCTGGAGAGGCTTTTTGATGAGTAGTGGCAAGAACTTGGTGTTAAAATGAGACCTGGGGGTGCATTCCTAGCTCCAGTGTGTCCCACCTGGATGAGCTTGGGTTTTTTCCTGAACTTTAATTTCCTTATCTGCTAAATGGGTAGTTATGAAAATTAAATGAGAATAAACGCAGGTGACGTGCAGGCACTTAGTGGATGCAGAGGAAATGACAAATTGTTGGCCACTCATTCACTTTTT... | benign | 60,539 |
Is the genetic variant on chromosome 3, position 4697315, gene ITPR1 (inositol 1,4,5-trisphosphate receptor type 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TGAAAATGGTCATTTCAACATAGTTTTAATTTACAGTTCACTTGTTATGGATAAAGAAGGTAGAGTTATAACTAGTATTAGGGATGAGAGAAGCGTCGTGTTATAACAAGCATTAGTTTGTTTTTTACTCTTTTTTATTTGAAATACAACGGAAGTGCAAAAAAGTACATAAACTCAGTTGTATACTGCAAGAACGATAGAACGATTATAAAGAGAACAGCTTTGTAACTGCCACCCAGGTCAAGAAATATGCAAAAACCTCCCCCCATTCCCCTTTCCTGTCCTCACCTCCCCCAAGGGCTGTCTCCTGAGGGTAACCA... | TGAAAATGGTCATTTCAACATAGTTTTAATTTACAGTTCACTTGTTATGGATAAAGAAGGTAGAGTTATAACTAGTATTAGGGATGAGAGAAGCGTCGTGTTATAACAAGCATTAGTTTGTTTTTTACTCTTTTTTATTTGAAATACAACGGAAGTGCAAAAAAGTACATAAACTCAGTTGTATACTGCAAGAACGATAGAACGATTATAAAGAGAACAGCTTTGTAACTGCCACCCAGGTCAAGAAATATGCAAAAACCTCCCCCCATTCCCCTTTCCTGTCCTCACCTCCCCCAAGGGCTGTCTCCTGAGGGTAACCA... | benign | 60,609 |
Mutation found at chromosome 3 position 4711744, gene ITPR1 (inositol 1,4,5-trisphosphate receptor type 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GTGTTTTGCATTTGAAGACCATCATGCTATCAGGGTACATGTATTTAGCATGTTGATACAGCATGTTCATTCATTGGTGTCCTCATGTTTGTATGACTTTATTATGTGAATAATTCATGCTCATTGAAAATAAACAACACTGACAAGTATTTCTATATAGAAGAAAATCAGAATCACCTGTAATCCCACCACCCAGAGAAAACCAGTAGTAATGTTTTAATATTTGATGTTTATCCTTTAGCTAGATATTGATGATGTTTATAAAAATAGGATTATTATTGTTTGACCTTTGTTATGCCCATGTCATAGACATCTTTCCA... | GTGTTTTGCATTTGAAGACCATCATGCTATCAGGGTACATGTATTTAGCATGTTGATACAGCATGTTCATTCATTGGTGTCCTCATGTTTGTATGACTTTATTATGTGAATAATTCATGCTCATTGAAAATAAACAACACTGACAAGTATTTCTATATAGAAGAAAATCAGAATCACCTGTAATCCCACCACCCAGAGAAAACCAGTAGTAATGTTTTAATATTTGATGTTTATCCTTTAGCTAGATATTGATGATGTTTATAAAAATAGGATTATTATTGTTTGACCTTTGTTATGCCCATGTCATAGACATCTTTCCA... | benign | 60,631 |
The chromosome 3, position 4815176 genetic variant in gene ITPR1: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Gillespie_syndrome', 'Inborn_genetic_diseases'] | CTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATTCAGCCGATTTATACTGAGTGCC... | CTTCTCTCTCCCAGAAACCGGCGAGAGTTTGGCAAGCGAGTTCCTGTTCTCCGATGTGTGTAGGGTGGAGAGTGGGGAGAACTGCTCCTCTCCTGCACCCAGAGAAGGTAGGACCTCCTAACTGTAAGCCCCATGTTAATATCGGACTCCTCCAGAGGCTTAGCTGATGCAGGTGATGTTGGAAGAAGATTAAATTTACTGCTCAGGAGTAAGGCTATAGCAAAGGGGAAAGGCTGAGAAAGAGGAGGGAGATGAAGGGAAAAGAAGGTTACACCTGAAGAAAAGATCTGATGTGATTCAGCCGATTTATACTGAGTGCC... | pathogenic | 60,717 |
Does the variant on chromosome 3 at location 4836945 affecting gene ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AAGGTAGAGATTGCCATTTTTCTCCTCCAGCAGTCACGATAAGCAGCTCAGGCTTACTACTTAAGCATTTGTTATTAGGGTGCATGCAGAAGAAGAGTTGCATATCATTCTGTCCTTCCACAAGCTTTTATTAATATTGAATGTCTACTATGCTCTAGTCAGTATACTAAGGTGGTTCCTGCCTTCATAAAGCTCACAAACTAGTGACTGTGACCCTGCCCGCCCACCCACCAGTATCTTAAGCAAACACTCTATGACACCTTGTTGTCCATGTGGTATGACTGCTTGTGATATTTTTCATCTAGCTCTCTTATAGGGCT... | AAGGTAGAGATTGCCATTTTTCTCCTCCAGCAGTCACGATAAGCAGCTCAGGCTTACTACTTAAGCATTTGTTATTAGGGTGCATGCAGAAGAAGAGTTGCATATCATTCTGTCCTTCCACAAGCTTTTATTAATATTGAATGTCTACTATGCTCTAGTCAGTATACTAAGGTGGTTCCTGCCTTCATAAAGCTCACAAACTAGTGACTGTGACCCTGCCCGCCCACCCACCAGTATCTTAAGCAAACACTCTATGACACCTTGTTGTCCATGTGGTATGACTGCTTGTGATATTTTTCATCTAGCTCTCTTATAGGGCT... | benign | 60,728 |
Chromosome 3, position 8745478, gene CAV3: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | AAGAAGTAACATCCTTCCTGAGAAGATGAGGCCCATTTTCTTCCTCTCCTCCCATCCACAGGGTTGCATAAGAGATTAAGTCATCTCTGATGAAACCTGCAGCAGAGAAAGCTGGGGGCCAAGATTATACAAGGAAGGTCCTGGGAGGTCAGCTTTTCCATTTCTCCTGCAGCCCAGAGTCTCACCCTGTAAACTGTGCTGCCTGCTGACACACCACCCCGAGTGAGGCCTCATCCTCAGGGATCCCCAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAA... | AAGAAGTAACATCCTTCCTGAGAAGATGAGGCCCATTTTCTTCCTCTCCTCCCATCCACAGGGTTGCATAAGAGATTAAGTCATCTCTGATGAAACCTGCAGCAGAGAAAGCTGGGGGCCAAGATTATACAAGGAAGGTCCTGGGAGGTCAGCTTTTCCATTTCTCCTGCAGCCCAGAGTCTCACCCTGTAAACTGTGCTGCCTGCTGACACACCACCCCGAGTGAGGCCTCATCCTCAGGGATCCCCAGCCTCAGAGCACAGGGGGATCAGGGACCTGAGGTGGGGTGCAGGAGCTCAGAAGCTAAAGTCACATGAGAA... | benign | 60,792 |
Is the genetic variant on chromosome 3, position 8746677, gene CAV3, benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CAGCTAGGAAGGTGCTTCATGCATAGCAGGGCTCGAGAGAGCTTAGGTAAGCGATGTGAGGAACCTCTGCCTGTTCACCATCCAATCCACAGGTGCTCAGTAAATTGCTGTAGGATGCATACGACCGTCCAACACCCTTCAGATCATAAAACAATAGAATTTGAGAGCTGCGACTATAGCACTGCCACTAAGTCACTGTTGGCTTTAAGCAAGTCGCTCACCTTGAGGGGGTTGAACGAGCGTGTTGTGTTGGTCAGCGGTGCCTAGGAACAGCAGCAGCTTGGGCTCAACAGGGAGCTTGTTAGAAATACAGAGCCTTA... | CAGCTAGGAAGGTGCTTCATGCATAGCAGGGCTCGAGAGAGCTTAGGTAAGCGATGTGAGGAACCTCTGCCTGTTCACCATCCAATCCACAGGTGCTCAGTAAATTGCTGTAGGATGCATACGACCGTCCAACACCCTTCAGATCATAAAACAATAGAATTTGAGAGCTGCGACTATAGCACTGCCACTAAGTCACTGTTGGCTTTAAGCAAGTCGCTCACCTTGAGGGGGTTGAACGAGCGTGTTGTGTTGGTCAGCGGTGCCTAGGAACAGCAGCAGCTTGGGCTCAACAGGGAGCTTGTTAGAAATACAGAGCCTTA... | benign | 60,831 |
Determine if the mutation at chromosome 3, position 9447263 in gene SETD5 (SET domain containing 5) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Intellectual_disability-facial_dysmorphism_syndrome_due_to_SETD5_haploinsufficiency'] | AGCAGCAGAATGAGGCTTCAGAGGAGAATAATGACCAGCAATCACAAGAAGTTCCAGAAAAAGTAACTGTATCCAGTGATCATGAGGTAATCGCCCCTGGTCAAATGATGATGCTATGGCATCAATCCTCCAAAGGAAGAGGAACCCGGGTTGCCGCATGGTTTAAGTAGGGGAGCTATAGTAACACTTAGTGCCCTTTATATCAATGTGGGTTTATTGTGTTCATACATTTCTTTCTGTTTTACAAAGTCAAAAACATCCTTTGCTGGTTTTGCACCAGAGAATAGGGGTTAGTTATCATCTGTGTTTACCATGTGGCC... | AGCAGCAGAATGAGGCTTCAGAGGAGAATAATGACCAGCAATCACAAGAAGTTCCAGAAAAAGTAACTGTATCCAGTGATCATGAGGTAATCGCCCCTGGTCAAATGATGATGCTATGGCATCAATCCTCCAAAGGAAGAGGAACCCGGGTTGCCGCATGGTTTAAGTAGGGGAGCTATAGTAACACTTAGTGCCCTTTATATCAATGTGGGTTTATTGTGTTCATACATTTCTTTCTGTTTTACAAAGTCAAAAACATCCTTTGCTGGTTTTGCACCAGAGAATAGGGGTTAGTTATCATCTGTGTTTACCATGTGGCC... | pathogenic | 60,890 |
Evaluate if the mutation on chromosome 3 at position 9448000 in SETD5 (SET domain containing 5) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | GTTTGAAGAGGTTGTTTTTTTTTTTTTTTTTTTTTTTACTAACAATCTGGTTTCCGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGGCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTCGCTAACACGGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGTGGAGATAGCGCCACTGCACTCCGGCCTGGGCAAAAGA... | GTTTGAAGAGGTTGTTTTTTTTTTTTTTTTTTTTTTTACTAACAATCTGGTTTCCGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGGCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTCGCTAACACGGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGTGGAGATAGCGCCACTGCACTCCGGCCTGGGCAAAAGA... | pathogenic | 60,901 |
Is the genetic change at chromosome 3, position 9470900, within gene SETD5 (SET domain containing 5) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Developmental_disorder'] | GAGGGGGTGGCTGGAGTTCTATTAAAGAATAGAATCTAGAAGTCAAGATGCTGATATGTGGTAGGAGCCTTGTTAAAGAAAGGCTAATAAATCAGGAAAGTTGAGTCAAAAGTTGTAAGAGCTGTTTTTTGAGTTGGGTGGTGACTTATGCCTTGTTCTAGGGTTAATCTAACAGCTCTGTAAACCAGATGTTTTGACCTTTGGTTGATAGATTGAGCAGCTTCTTCAGGAAGGGAAAGTCATTCTGTCTTTCAGCTTTCCTACATTTTCTCTGCAGCTCCTTACTGGGTGCACAAGGAAACCAAGTGAGTCCCTGGCTT... | GAGGGGGTGGCTGGAGTTCTATTAAAGAATAGAATCTAGAAGTCAAGATGCTGATATGTGGTAGGAGCCTTGTTAAAGAAAGGCTAATAAATCAGGAAAGTTGAGTCAAAAGTTGTAAGAGCTGTTTTTTGAGTTGGGTGGTGACTTATGCCTTGTTCTAGGGTTAATCTAACAGCTCTGTAAACCAGATGTTTTGACCTTTGGTTGATAGATTGAGCAGCTTCTTCAGGAAGGGAAAGTCATTCTGTCTTTCAGCTTTCCTACATTTTCTCTGCAGCTCCTTACTGGGTGCACAAGGAAACCAAGTGAGTCCCTGGCTT... | pathogenic | 60,924 |
Variant at chromosome 3, position 9470923, gene SETD5 (SET domain containing 5): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic | AAAGAATAGAATCTAGAAGTCAAGATGCTGATATGTGGTAGGAGCCTTGTTAAAGAAAGGCTAATAAATCAGGAAAGTTGAGTCAAAAGTTGTAAGAGCTGTTTTTTGAGTTGGGTGGTGACTTATGCCTTGTTCTAGGGTTAATCTAACAGCTCTGTAAACCAGATGTTTTGACCTTTGGTTGATAGATTGAGCAGCTTCTTCAGGAAGGGAAAGTCATTCTGTCTTTCAGCTTTCCTACATTTTCTCTGCAGCTCCTTACTGGGTGCACAAGGAAACCAAGTGAGTCCCTGGCTTTCTGTCACAGGCCACCATTCTGC... | AAAGAATAGAATCTAGAAGTCAAGATGCTGATATGTGGTAGGAGCCTTGTTAAAGAAAGGCTAATAAATCAGGAAAGTTGAGTCAAAAGTTGTAAGAGCTGTTTTTTGAGTTGGGTGGTGACTTATGCCTTGTTCTAGGGTTAATCTAACAGCTCTGTAAACCAGATGTTTTGACCTTTGGTTGATAGATTGAGCAGCTTCTTCAGGAAGGGAAAGTCATTCTGTCTTTCAGCTTTCCTACATTTTCTCTGCAGCTCCTTACTGGGTGCACAAGGAAACCAAGTGAGTCCCTGGCTTTCTGTCACAGGCCACCATTCTGC... | pathogenic | 60,925 |
Regarding the variant at chromosome 3 and position 9475610, affecting gene SETD5 (SET domain containing 5): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability-facial_dysmorphism_syndrome_due_to_SETD5_haploinsufficiency'] | AGTTAAATTGGGGGTGGGGGGGAGTATATATCTAAGATCATTCCCAGTTTTACCTAAAATCTATGGGAACACTTGATGGGAACATCTGAGACAGCCAGCCAACAGTACCATCTGTCCTGTTCAGCTGATTTAATAATGTCAGCTGCAACCCCCCAGCTTTGCAGAATTAAGAATTACCAACATGCCTGTGGAGCAGTGCTTTGGATGACATGTAGTTATGGATGCAGATGAGCTCTTTCATTTGGTGGGCACTAACACTGCCTTTCCTATTTCTCATTTCACATGAAAGGTGAGTCAAGAATCCAGCCAAGTTCCACATG... | AGTTAAATTGGGGGTGGGGGGGAGTATATATCTAAGATCATTCCCAGTTTTACCTAAAATCTATGGGAACACTTGATGGGAACATCTGAGACAGCCAGCCAACAGTACCATCTGTCCTGTTCAGCTGATTTAATAATGTCAGCTGCAACCCCCCAGCTTTGCAGAATTAAGAATTACCAACATGCCTGTGGAGCAGTGCTTTGGATGACATGTAGTTATGGATGCAGATGAGCTCTTTCATTTGGTGGGCACTAACACTGCCTTTCCTATTTCTCATTTCACATGAAAGGTGAGTCAAGAATCCAGCCAAGTTCCACATG... | pathogenic | 60,953 |
Classify the chromosome 3 variant at position 9475616 affecting gene SETD5 (SET domain containing 5) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Intellectual_disability-facial_dysmorphism_syndrome_due_to_SETD5_haploinsufficiency'] | ATTGGGGGTGGGGGGGAGTATATATCTAAGATCATTCCCAGTTTTACCTAAAATCTATGGGAACACTTGATGGGAACATCTGAGACAGCCAGCCAACAGTACCATCTGTCCTGTTCAGCTGATTTAATAATGTCAGCTGCAACCCCCCAGCTTTGCAGAATTAAGAATTACCAACATGCCTGTGGAGCAGTGCTTTGGATGACATGTAGTTATGGATGCAGATGAGCTCTTTCATTTGGTGGGCACTAACACTGCCTTTCCTATTTCTCATTTCACATGAAAGGTGAGTCAAGAATCCAGCCAAGTTCCACATGAATTAA... | ATTGGGGGTGGGGGGGAGTATATATCTAAGATCATTCCCAGTTTTACCTAAAATCTATGGGAACACTTGATGGGAACATCTGAGACAGCCAGCCAACAGTACCATCTGTCCTGTTCAGCTGATTTAATAATGTCAGCTGCAACCCCCCAGCTTTGCAGAATTAAGAATTACCAACATGCCTGTGGAGCAGTGCTTTGGATGACATGTAGTTATGGATGCAGATGAGCTCTTTCATTTGGTGGGCACTAACACTGCCTTTCCTATTTCTCATTTCACATGAAAGGTGAGTCAAGAATCCAGCCAAGTTCCACATGAATTAA... | pathogenic | 60,954 |
Evaluate this variant at chromosome 3, position 9475867, gene SETD5 (SET domain containing 5): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; [] | CTGCCTTTCCTATTTCTCATTTCACATGAAAGGTGAGTCAAGAATCCAGCCAAGTTCCACATGAATTAACAACAGATGTCTCTCTTCCACACAGCTAGCATATACAGAGCAAAAAGACATTCTGAAAGGATTTGTCTGGTTTAGGGGAGACCACAAATTTAAAAATGAATAATACTGGTGGCAAATACTGAGGATCAAATGTGTGAAATAGAGAATGAAGCACAGGAGTTCAGGGATCTTGAACTGAAAAAAATAAGTCTGGGAAAGAACAGTCCTGGCTCAAATGTTTCATGTTCATTAATCTATGAAACCTTTATTAA... | CTGCCTTTCCTATTTCTCATTTCACATGAAAGGTGAGTCAAGAATCCAGCCAAGTTCCACATGAATTAACAACAGATGTCTCTCTTCCACACAGCTAGCATATACAGAGCAAAAAGACATTCTGAAAGGATTTGTCTGGTTTAGGGGAGACCACAAATTTAAAAATGAATAATACTGGTGGCAAATACTGAGGATCAAATGTGTGAAATAGAGAATGAAGCACAGGAGTTCAGGGATCTTGAACTGAAAAAAATAAGTCTGGGAAAGAACAGTCCTGGCTCAAATGTTTCATGTTCATTAATCTATGAAACCTTTATTAA... | pathogenic | 60,962 |
Gene BRPF1 (bromodomain and PHD finger containing 1) variant at chromosome position 9739281 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Inborn_genetic_diseases'] | TCTGTATGGCGAATCAGACACAATCCCCACTTCTATCGTGTAGTGGAGGAGTTAGACACATACACAGCTATAATGCTAGGAAGGTGGGTAAAGGCCATACAAAAACTAATAAGTTAACATTTATTGAGTGCTTGCTGCACACCAGGCACTGTCCTAAGCACTTTACCTGCATTAACTCATTTAATGCTCAGAATAGCTATGTGAAATAGGTTCAGATTATTAGCATCACCACTTTACAGATGAACAAACAAGGCTCAGGGAGCTTAGCTCACTTGCCCTCTGTTAGACAGCACCCAGGCAGTGTGGCTCCAGAGCCTGTG... | TCTGTATGGCGAATCAGACACAATCCCCACTTCTATCGTGTAGTGGAGGAGTTAGACACATACACAGCTATAATGCTAGGAAGGTGGGTAAAGGCCATACAAAAACTAATAAGTTAACATTTATTGAGTGCTTGCTGCACACCAGGCACTGTCCTAAGCACTTTACCTGCATTAACTCATTTAATGCTCAGAATAGCTATGTGAAATAGGTTCAGATTATTAGCATCACCACTTTACAGATGAACAAACAAGGCTCAGGGAGCTTAGCTCACTTGCCCTCTGTTAGACAGCACCCAGGCAGTGTGGCTCCAGAGCCTGTG... | pathogenic | 60,986 |
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