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 |
|---|---|---|---|---|---|
Benign or pathogenic: chromosome 6, position 26156826, gene H1-4 (H1.4 linker histone, cluster member) variant? Disease(s) if pathogenic? | pathogenic; ['Auditory_neuropathy_spectrum_disorder', 'Rahman_syndrome'] | TCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTTTTCAG... | TCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTTTTCAG... | pathogenic | 106,194 |
Determine whether the variant at chromosome 6, position 26156836, in gene H1-4 (H1.4 linker histone, cluster member) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Rahman_syndrome'] | ACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTTTTCAGAGGGCAATGA... | ACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTTTTCAGAGGGCAATGA... | pathogenic | 106,195 |
Gene H1-4 (H1.4 linker histone, cluster member) variant at chromosome 6, position 26156844—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Rahman_syndrome'] | CTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTTTTCAGAGGGCAATGATTTATAAT... | CTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTTTTCAGAGGGCAATGATTTATAAT... | pathogenic | 106,196 |
Does the chromosome 6 mutation at position 26156850 within gene H1-4 (H1.4 linker histone, cluster member) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Neurodevelopmental_disorder', 'Rahman_syndrome'] | CCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTTTTCAGAGGGCAATGATTTATAATAGCTTA... | CCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTTTTCAGAGGGCAATGATTTATAATAGCTTA... | pathogenic | 106,198 |
Gene mutation in VARS2 (valyl-tRNA synthetase 2, mitochondrial) at chromosome 6, position 30915204—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_20'] | AGGTATAGACAGGCTCCAAGATGTCAGAGGCTGGCAGCTGGTGATGACATGATGGAAAAGAAAAAGGGGCATCCAAATCTGGGGAAGAAACAGAGGGCCGGGTTGTCTGGGGCAGTATTCTGAGTCCCTACAGTCAACCCTTGCTCCTTGCAGACACCTGTGCTGCCCCCCACCATCACCGACCAGATCCGGCTCTGGGAGCTGGAAAGGGACAGACTCCGGTTCACTGAGGGTGAGTAGCTTCTGGTGGCCAAGTCTTGGTCATTGGCCAGAGAAAGGGCAGACAGTTCAGTCTGCATTTTATTTTTTACTTCATGGAC... | AGGTATAGACAGGCTCCAAGATGTCAGAGGCTGGCAGCTGGTGATGACATGATGGAAAAGAAAAAGGGGCATCCAAATCTGGGGAAGAAACAGAGGGCCGGGTTGTCTGGGGCAGTATTCTGAGTCCCTACAGTCAACCCTTGCTCCTTGCAGACACCTGTGCTGCCCCCCACCATCACCGACCAGATCCGGCTCTGGGAGCTGGAAAGGGACAGACTCCGGTTCACTGAGGGTGAGTAGCTTCTGGTGGCCAAGTCTTGGTCATTGGCCAGAGAAAGGGCAGACAGTTCAGTCTGCATTTTATTTTTTACTTCATGGAC... | pathogenic | 106,245 |
Does the variant impacting VARS2 (valyl-tRNA synthetase 2, mitochondrial) on chromosome 6, position 30915985, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | ACAGCGACGTCAAGCGCTTTTGGAAGCGGCAGAAACATAGCTCCTGAGAGCGCGGGACTTGGACACGGACCTCGGCGGGCGGGACTGGGCGGGGCGGGGCATCAGAACTCAGGTGTTTTTTATTTACGCGTCAGGGCTTTTCTTGTTTAATAAAGTTATGATAGCTAGCAGTGCGGTCCCGGGCGCCTCCCCGTGGGGTTTGCCTTCGCGGCGGACTCGCTCCTCTGGTCTACAGCCTTTGGACCGGTAGGGAGAGGGTGGGGCCAAAGCCAGCTGCTGCGCATGCGCCGGCCGGGGCCCCGCCCCCATGCGCCGCGCGG... | ACAGCGACGTCAAGCGCTTTTGGAAGCGGCAGAAACATAGCTCCTGAGAGCGCGGGACTTGGACACGGACCTCGGCGGGCGGGACTGGGCGGGGCGGGGCATCAGAACTCAGGTGTTTTTTATTTACGCGTCAGGGCTTTTCTTGTTTAATAAAGTTATGATAGCTAGCAGTGCGGTCCCGGGCGCCTCCCCGTGGGGTTTGCCTTCGCGGCGGACTCGCTCCTCTGGTCTACAGCCTTTGGACCGGTAGGGAGAGGGTGGGGCCAAAGCCAGCTGCTGCGCATGCGCCGGCCGGGGCCCCGCCCCCATGCGCCGCGCGG... | pathogenic | 106,248 |
Variant in gene VARS2 (valyl-tRNA synthetase 2, mitochondrial), located at chromosome 6 position 30916101: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TTTTTATTTACGCGTCAGGGCTTTTCTTGTTTAATAAAGTTATGATAGCTAGCAGTGCGGTCCCGGGCGCCTCCCCGTGGGGTTTGCCTTCGCGGCGGACTCGCTCCTCTGGTCTACAGCCTTTGGACCGGTAGGGAGAGGGTGGGGCCAAAGCCAGCTGCTGCGCATGCGCCGGCCGGGGCCCCGCCCCCATGCGCCGCGCGGCTCCAGGGCCACGTTCCAGGGTCGGGTTTGGTGGATTCCTCAGTCCCTGCCGCCGCGGGGCGCCCTGGGATAGCGGCGGGGCCTCCTGGTGAGCGCGCGCCGGGGCGGCCTCCGGG... | TTTTTATTTACGCGTCAGGGCTTTTCTTGTTTAATAAAGTTATGATAGCTAGCAGTGCGGTCCCGGGCGCCTCCCCGTGGGGTTTGCCTTCGCGGCGGACTCGCTCCTCTGGTCTACAGCCTTTGGACCGGTAGGGAGAGGGTGGGGCCAAAGCCAGCTGCTGCGCATGCGCCGGCCGGGGCCCCGCCCCCATGCGCCGCGCGGCTCCAGGGCCACGTTCCAGGGTCGGGTTTGGTGGATTCCTCAGTCCCTGCCGCCGCGGGGCGCCCTGGGATAGCGGCGGGGCCTCCTGGTGAGCGCGCGCCGGGGCGGCCTCCGGG... | benign | 106,249 |
Is the genetic mutation found on chromosome 6 at position 30922142, within the gene VARS2, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_20'] | GTGAAGGTGACTCCAGCTCACAGTCCTGCCGATGCTGAGATGGGGGCCCGACATGGCTTGAGCCCCTTGAATGTCATTGCGGAGGATGGGACCATGACCTCCCTCTGCGGGGACTGGCTGCAGGTGGTACCACCCTATGTTACCCCATCCTTTGGGGGCTCTCTGTCCCCCTAATCCTCCTCCTAGTTTCTTATTTCTCTAGAGGCCTTCAGTCTTTACTCTTGCCGCTTTTTCTCCAGGGTCTTCACCGGTTTGTGGCCCGGGAAAAGATAATGTCTGTGCTGAGTGAATGGGGCCTGTTCCGGGGCCTCCAGAACCAC... | GTGAAGGTGACTCCAGCTCACAGTCCTGCCGATGCTGAGATGGGGGCCCGACATGGCTTGAGCCCCTTGAATGTCATTGCGGAGGATGGGACCATGACCTCCCTCTGCGGGGACTGGCTGCAGGTGGTACCACCCTATGTTACCCCATCCTTTGGGGGCTCTCTGTCCCCCTAATCCTCCTCCTAGTTTCTTATTTCTCTAGAGGCCTTCAGTCTTTACTCTTGCCGCTTTTTCTCCAGGGTCTTCACCGGTTTGTGGCCCGGGAAAAGATAATGTCTGTGCTGAGTGAATGGGGCCTGTTCCGGGGCCTCCAGAACCAC... | pathogenic | 106,284 |
Mutation at chromosome 6, position 30922875, within VARS2: benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CAGGAGACCTCCTGCCCTGAAGACCTCTCCAGCTGTGGTAACTGAGAGGATGTGTGGGATGGAGGCTGGGCGGCCCAGCAAGGGCTGGCTCATATCCTTACTCAAGCCCAGAATCTTGGCAAGAGGCTTGGGAGGTCCTTTCTGAGTTTTAAAATGACCTCAGAGGCCACTCGTCCTATCTGTGGAGGTGCGGCCGTGCAGGAAGGGCAACATTGTCTAAAGTCCCCTTTCTCTCCAGGCTGTGGAGTCGGGGGCCCTGGAGCTCAGTCCCTCCTTCCACCAGAAGAACTGGCAGCACTGGTTTTCCCATATTGGGTAAG... | CAGGAGACCTCCTGCCCTGAAGACCTCTCCAGCTGTGGTAACTGAGAGGATGTGTGGGATGGAGGCTGGGCGGCCCAGCAAGGGCTGGCTCATATCCTTACTCAAGCCCAGAATCTTGGCAAGAGGCTTGGGAGGTCCTTTCTGAGTTTTAAAATGACCTCAGAGGCCACTCGTCCTATCTGTGGAGGTGCGGCCGTGCAGGAAGGGCAACATTGTCTAAAGTCCCCTTTCTCTCCAGGCTGTGGAGTCGGGGGCCCTGGAGCTCAGTCCCTCCTTCCACCAGAAGAACTGGCAGCACTGGTTTTCCCATATTGGGTAAG... | benign | 106,296 |
Gene VARS2 (valyl-tRNA synthetase 2, mitochondrial) variant at chromosome position 30925222 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TCTTCGCTTTATCCTCAATGCTTTAGGGGAGAAATTTGTGCCACAGCCTGCTGAGGAGGTAAGAGAAAACAGAGGTGCTTGGGAGTAGGGTAGTCAGGTGTCAGAGGGCCAAGGTGGCATCTGGAAGGAAAGGAGGCAGGGGAGGGGGAGTCAGGCCATCCTGCCCCCTCTGCCTGCAGCTGTCTCCCTCCTCCCCGATGGATGCCTGGATCCTGAGCCGCCTTGCCCTGGCTGCCCAGGAGTGTGAGCGGGGCTTCCTCACCCGAGAGCTCTCGCTCGTCACTCATGCCCTGCACCACTTCTGGCTTCACAACCTCTGT... | TCTTCGCTTTATCCTCAATGCTTTAGGGGAGAAATTTGTGCCACAGCCTGCTGAGGAGGTAAGAGAAAACAGAGGTGCTTGGGAGTAGGGTAGTCAGGTGTCAGAGGGCCAAGGTGGCATCTGGAAGGAAAGGAGGCAGGGGAGGGGGAGTCAGGCCATCCTGCCCCCTCTGCCTGCAGCTGTCTCCCTCCTCCCCGATGGATGCCTGGATCCTGAGCCGCCTTGCCCTGGCTGCCCAGGAGTGTGAGCGGGGCTTCCTCACCCGAGAGCTCTCGCTCGTCACTCATGCCCTGCACCACTTCTGGCTTCACAACCTCTGT... | benign | 106,310 |
A mutation at chromosome position 31669412 on chromosome 6 in gene CSNK2B (casein kinase 2 beta): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Inborn_genetic_diseases'] | TCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATGTCTAAGAAAAAGATTGCTGTATCTACTTATCCTTAGAAAAGAAAAGCCAAA... | TCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATGTCTAAGAAAAAGATTGCTGTATCTACTTATCCTTAGAAAAGAAAAGCCAAA... | pathogenic | 106,367 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 31669443, gene CSNK2B (casein kinase 2 beta). What disease(s) is it linked to if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Neurodevelopmental_disorder', 'Poirier-Bienvenu_neurodevelopmental_syndrome'] | GTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATGTCTAAGAAAAAGATTGCTGTATCTACTTATCCTTAGAAAAGAAAAGCCAAAGCTTTTATGGGAGAGAGTGTAGGTGAACTAG... | GTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATGTCTAAGAAAAAGATTGCTGTATCTACTTATCCTTAGAAAAGAAAAGCCAAAGCTTTTATGGGAGAGAGTGTAGGTGAACTAG... | pathogenic | 106,368 |
Variant at chromosome 6, position 31792801, gene VARS1: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Neurodevelopmental_disorder_with_microcephaly,_seizures,_and_cortical_atrophy'] | TGTAAGAAGAAAGCTAGATCATAACAAGTGTAATATGAACCCTTTATGTTAAAAAATAGAAAAGACTCACCCAAAAGGAGAACTATAAATTTCTATGGGTACGTGTATATGTAAGTAAATAGGAAAGATCTGGGAAGATACACATCAAAGTGATAACAATGGCTAAATCTTAGGAGGAAGTAGGTGTGGAGGGGGATGGTCAAGGAGATTTGAAACTTTAAATTTCTTACAAGAATATATTCATATATTTTGGTCAGTTGTGGTGGCGCATTCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAA... | TGTAAGAAGAAAGCTAGATCATAACAAGTGTAATATGAACCCTTTATGTTAAAAAATAGAAAAGACTCACCCAAAAGGAGAACTATAAATTTCTATGGGTACGTGTATATGTAAGTAAATAGGAAAGATCTGGGAAGATACACATCAAAGTGATAACAATGGCTAAATCTTAGGAGGAAGTAGGTGTGGAGGGGGATGGTCAAGGAGATTTGAAACTTTAAATTTCTTACAAGAATATATTCATATATTTTGGTCAGTTGTGGTGGCGCATTCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAA... | pathogenic | 106,381 |
Determine if the mutation at chromosome 6, position 31792897 in gene VARS1 is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GGGTACGTGTATATGTAAGTAAATAGGAAAGATCTGGGAAGATACACATCAAAGTGATAACAATGGCTAAATCTTAGGAGGAAGTAGGTGTGGAGGGGGATGGTCAAGGAGATTTGAAACTTTAAATTTCTTACAAGAATATATTCATATATTTTGGTCAGTTGTGGTGGCGCATTCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGCGGTTGCCATGAGCCGAGATGGCGTCACTGCACTCCGGCCTGGGCAACAGAACAAGACTCTGTCCCCCCAAAAAAAAATATATA... | GGGTACGTGTATATGTAAGTAAATAGGAAAGATCTGGGAAGATACACATCAAAGTGATAACAATGGCTAAATCTTAGGAGGAAGTAGGTGTGGAGGGGGATGGTCAAGGAGATTTGAAACTTTAAATTTCTTACAAGAATATATTCATATATTTTGGTCAGTTGTGGTGGCGCATTCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGCGGTTGCCATGAGCCGAGATGGCGTCACTGCACTCCGGCCTGGGCAACAGAACAAGACTCTGTCCCCCCAAAAAAAAATATATA... | benign | 106,383 |
Variant at chromosome 6, position 31862661, gene NEU1 (neuraminidase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Sialidosis'] | CCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGC... | CCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGC... | pathogenic | 106,404 |
Clinical classification of chromosome 6, position 31934288, gene C2 (complement C2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Age_related_macular_degeneration_14', 'C2-related_disorder', 'C2_deficiency,_type_I', 'Complement_component_2_deficiency'] | GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACCAGGTGGCTGCTGGGCGGAGGGGCTCCTCACTTCTCAGACAGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGATGGAGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACATCCCGGATGGGGCGGCCGGGCAGAGGTGCTCCCCACATCTCAGACGATGGGCGGCAGGGCAGAGACGCTCCTCACTTCCCAGATGTGATGG... | GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACCAGGTGGCTGCTGGGCGGAGGGGCTCCTCACTTCTCAGACAGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGATGGAGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACATCCCGGATGGGGCGGCCGGGCAGAGGTGCTCCCCACATCTCAGACGATGGGCGGCAGGGCAGAGACGCTCCTCACTTCCCAGATGTGATGG... | pathogenic | 106,427 |
Considering the genetic mutation at chromosome 6, position 31943545, impacting C2 (complement C2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCTGTTCATTTGTTTGAGACAGAGTCTCGCTCTGTCACCCAGAAGCCCAGGCTGCAGTGCAGTGGCGGGATCCCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAGGTGATTCTCGTGCCTCAGTCTCCCAAGAAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCAAATTTTTGTATTTTTAGTAGAGACATGGTCTCGCCATGTTGGCTAGGCTGGTCTTAAACTCCTGGCCTCAAGGCGATCTGCCTGCCTTCGCCTCAAAAAAACTGCCGGGATTACAGGCATGAGTCACCACCATGCCCAGCCAGTTCACTT... | TCTGTTCATTTGTTTGAGACAGAGTCTCGCTCTGTCACCCAGAAGCCCAGGCTGCAGTGCAGTGGCGGGATCCCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAGGTGATTCTCGTGCCTCAGTCTCCCAAGAAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCAAATTTTTGTATTTTTAGTAGAGACATGGTCTCGCCATGTTGGCTAGGCTGGTCTTAAACTCCTGGCCTCAAGGCGATCTGCCTGCCTTCGCCTCAAAAAAACTGCCGGGATTACAGGCATGAGTCACCACCATGCCCAGCCAGTTCACTT... | benign | 106,432 |
Is the genetic change at chromosome 6, position 31944148, within gene C2 (complement C2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Complement_component_2_deficiency'] | GCCACCGTGCCCGGCTCACCTCTTCTTTTTTTTTTTTTGAGACGGGGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACCACAACCACCGCCTCCTGGTGATTACAGGTGTGAGCCACCACGCCTGGCTCTGGCTTACCTCTTCTTATAAGGACCTCAGTCATTGGATTAGAGCTCACCCTAATCTAGTATGACTTAATCTTAACTTGATTACATCTGCAAAGACCCTTTTTCCAAATAAAGTCACAGATACTGGGGATTAGGACTCGAACACATCTTTCTGGGGGACACAATTCCACCATT... | GCCACCGTGCCCGGCTCACCTCTTCTTTTTTTTTTTTTGAGACGGGGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACCACAACCACCGCCTCCTGGTGATTACAGGTGTGAGCCACCACGCCTGGCTCTGGCTTACCTCTTCTTATAAGGACCTCAGTCATTGGATTAGAGCTCACCCTAATCTAGTATGACTTAATCTTAACTTGATTACATCTGCAAAGACCCTTTTTCCAAATAAAGTCACAGATACTGGGGATTAGGACTCGAACACATCTTTCTGGGGGACACAATTCCACCATT... | pathogenic | 106,433 |
A genetic variant at chromosome 6, position 31963457, affecting gene SKIC2 (SKI2 subunit of superkiller complex)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Trichohepatoenteric_syndrome_2'] | GGCAAGAAAGAGCCTTGCCACCAGGATGTGGGCTGGCTAGGATGGGTCTGAGGGGAAGAAAGGGACATCTTTTGGGAGGAGTGCTAATTGAGAGCCCTCTGGTTGTATCTTTATCACTGCTACCCCTGACTCTTCCAGGAAGCGTCCACAGCTGTATCCACCCCAGAGGCCCCAGAGCCTCCATCTCAGGAGCAGTGGGCCATCCCTGTGGACGCCACCTCCCCTGTTGGTGATTTCTATCGCCTCATTCCCCAGCCAGCCTTCCAGGTACTTTGGCCCCATCTTCACACGCTCCTCTACCTCTTTCTGGGTCACACTCC... | GGCAAGAAAGAGCCTTGCCACCAGGATGTGGGCTGGCTAGGATGGGTCTGAGGGGAAGAAAGGGACATCTTTTGGGAGGAGTGCTAATTGAGAGCCCTCTGGTTGTATCTTTATCACTGCTACCCCTGACTCTTCCAGGAAGCGTCCACAGCTGTATCCACCCCAGAGGCCCCAGAGCCTCCATCTCAGGAGCAGTGGGCCATCCCTGTGGACGCCACCTCCCCTGTTGGTGATTTCTATCGCCTCATTCCCCAGCCAGCCTTCCAGGTACTTTGGCCCCATCTTCACACGCTCCTCTACCTCTTTCTGGGTCACACTCC... | pathogenic | 106,492 |
Regarding the variant at chromosome 6 and position 31963694, affecting gene SKIC2 (SKI2 subunit of superkiller complex): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['SKIC2-related_disorder'] | TATCGCCTCATTCCCCAGCCAGCCTTCCAGGTACTTTGGCCCCATCTTCACACGCTCCTCTACCTCTTTCTGGGTCACACTCCCAGCCGACCCCTTGTCTCCTCTATTGGCCAGAGGTCAGATCCATCCCAGGCCAGTCTTGGTACTCAGTCCCAGCCTCGGCTGGCTCCGGCCTTCATCCGCCCGCCCTGCGTGCTCCATGAGCAGGAGGCAGCAAGGCCCCGCTCCTTTCTTCAGCTCCTGTCTATTTCTCTCTCCCATAGTGGGCATTTGAGCCAGATGTGTTTCAGAAACAGGCCATCCTGCACTTGGAACGGCAT... | TATCGCCTCATTCCCCAGCCAGCCTTCCAGGTACTTTGGCCCCATCTTCACACGCTCCTCTACCTCTTTCTGGGTCACACTCCCAGCCGACCCCTTGTCTCCTCTATTGGCCAGAGGTCAGATCCATCCCAGGCCAGTCTTGGTACTCAGTCCCAGCCTCGGCTGGCTCCGGCCTTCATCCGCCCGCCCTGCGTGCTCCATGAGCAGGAGGCAGCAAGGCCCCGCTCCTTTCTTCAGCTCCTGTCTATTTCTCTCTCCCATAGTGGGCATTTGAGCCAGATGTGTTTCAGAAACAGGCCATCCTGCACTTGGAACGGCAT... | pathogenic | 106,493 |
Does the chromosome 6 mutation at position 31963717 within gene SKIC2 (SKI2 subunit of superkiller complex) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Trichohepatoenteric_syndrome'] | CTTCCAGGTACTTTGGCCCCATCTTCACACGCTCCTCTACCTCTTTCTGGGTCACACTCCCAGCCGACCCCTTGTCTCCTCTATTGGCCAGAGGTCAGATCCATCCCAGGCCAGTCTTGGTACTCAGTCCCAGCCTCGGCTGGCTCCGGCCTTCATCCGCCCGCCCTGCGTGCTCCATGAGCAGGAGGCAGCAAGGCCCCGCTCCTTTCTTCAGCTCCTGTCTATTTCTCTCTCCCATAGTGGGCATTTGAGCCAGATGTGTTTCAGAAACAGGCCATCCTGCACTTGGAACGGCATGACTCTGTCTTTGTCGCAGCTCA... | CTTCCAGGTACTTTGGCCCCATCTTCACACGCTCCTCTACCTCTTTCTGGGTCACACTCCCAGCCGACCCCTTGTCTCCTCTATTGGCCAGAGGTCAGATCCATCCCAGGCCAGTCTTGGTACTCAGTCCCAGCCTCGGCTGGCTCCGGCCTTCATCCGCCCGCCCTGCGTGCTCCATGAGCAGGAGGCAGCAAGGCCCCGCTCCTTTCTTCAGCTCCTGTCTATTTCTCTCTCCCATAGTGGGCATTTGAGCCAGATGTGTTTCAGAAACAGGCCATCCTGCACTTGGAACGGCATGACTCTGTCTTTGTCGCAGCTCA... | pathogenic | 106,494 |
Clinical classification of chromosome 6, position 31963962, gene SKIC2 (SKI2 subunit of superkiller complex): benign or pathogenic? Disease(s) if pathogenic? | pathogenic | ATTTGAGCCAGATGTGTTTCAGAAACAGGCCATCCTGCACTTGGAACGGCATGACTCTGTCTTTGTCGCAGCTCACACATCTGCAGGAAAAACAGTTGTGGCTGAATATGCCATTGCCCTGGCCCAGAAACACATGACACGGTATGAGTTCCTTTGCCAACCTCCCCCTTCACCAGCCAGCCCCATTTTCTCCTGCATCCTTTGAAAATCTCATCTCTTCCCCCACCTCTCTAGCTCATCCTTTAAGTGAGAGGTTCAGGGCTAAGACTGAGACAAGAGCCCAGAGAGAAATGAAAAGACATGGTGGGGAGAAAGTTTAG... | ATTTGAGCCAGATGTGTTTCAGAAACAGGCCATCCTGCACTTGGAACGGCATGACTCTGTCTTTGTCGCAGCTCACACATCTGCAGGAAAAACAGTTGTGGCTGAATATGCCATTGCCCTGGCCCAGAAACACATGACACGGTATGAGTTCCTTTGCCAACCTCCCCCTTCACCAGCCAGCCCCATTTTCTCCTGCATCCTTTGAAAATCTCATCTCTTCCCCCACCTCTCTAGCTCATCCTTTAAGTGAGAGGTTCAGGGCTAAGACTGAGACAAGAGCCCAGAGAGAAATGAAAAGACATGGTGGGGAGAAAGTTTAG... | pathogenic | 106,495 |
Gene SKIC2 (SKI2 subunit of superkiller complex) variant at chromosome 6, position 31964125—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CCCCCTTCACCAGCCAGCCCCATTTTCTCCTGCATCCTTTGAAAATCTCATCTCTTCCCCCACCTCTCTAGCTCATCCTTTAAGTGAGAGGTTCAGGGCTAAGACTGAGACAAGAGCCCAGAGAGAAATGAAAAGACATGGTGGGGAGAAAGTTTAGAAGAATGACCTGGGTTAGTTTAGGAAGGGGTTGGGGACAGAATTTTTCTGGGGTTATATCATGCAGGAGAATGTAAGGGCAGTTTGGGTGAAGAAGAGGAGCACCTGAGCTTCTGGGGCATGCTTCCACGAGGGCTCCATGTGGGAGAGGAAGTGCGGGCCAT... | CCCCCTTCACCAGCCAGCCCCATTTTCTCCTGCATCCTTTGAAAATCTCATCTCTTCCCCCACCTCTCTAGCTCATCCTTTAAGTGAGAGGTTCAGGGCTAAGACTGAGACAAGAGCCCAGAGAGAAATGAAAAGACATGGTGGGGAGAAAGTTTAGAAGAATGACCTGGGTTAGTTTAGGAAGGGGTTGGGGACAGAATTTTTCTGGGGTTATATCATGCAGGAGAATGTAAGGGCAGTTTGGGTGAAGAAGAGGAGCACCTGAGCTTCTGGGGCATGCTTCCACGAGGGCTCCATGTGGGAGAGGAAGTGCGGGCCAT... | benign | 106,498 |
Clinical classification of chromosome 6, position 31967792, gene SKIC2 (SKI2 subunit of superkiller complex): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Trichohepatoenteric_syndrome_2'] | AGAGCCTTTGCTGATCCTTTCTGTTCTCCTCTGTCCCAGGTCTTGTTTGCCACAGAGACCTTTGCCATGGGAGTAAACATGCCTGCTCGTACAGTAGTGTTTGACTCCATGCGCAAACACGATGGCTCCACCTTCCGGGACCTGCTCCCTGGGGAGTATGTGCAGATGGCAGGCCGGGCAGGGCGGAGGGGCCTGGACCCCACAGGCACCGTTATCCTGCTCTGCAAGGGCCGAGTGCCCGAGATGGCAGACCTGCACCGCATGATGATGGTGAGCGGGCCAGCATGCTCGGCAGGGCCCCAGCTCCAGGACCTTGCTGG... | AGAGCCTTTGCTGATCCTTTCTGTTCTCCTCTGTCCCAGGTCTTGTTTGCCACAGAGACCTTTGCCATGGGAGTAAACATGCCTGCTCGTACAGTAGTGTTTGACTCCATGCGCAAACACGATGGCTCCACCTTCCGGGACCTGCTCCCTGGGGAGTATGTGCAGATGGCAGGCCGGGCAGGGCGGAGGGGCCTGGACCCCACAGGCACCGTTATCCTGCTCTGCAAGGGCCGAGTGCCCGAGATGGCAGACCTGCACCGCATGATGATGGTGAGCGGGCCAGCATGCTCGGCAGGGCCCCAGCTCCAGGACCTTGCTGG... | pathogenic | 106,510 |
Is the genetic mutation found on chromosome 6 at position 31969532, within the gene SKIC2 (SKI2 subunit of superkiller complex), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Trichohepatoenteric_syndrome_2'] | TCCCCTCTTGCCCTCCTTTTCACCCTCTCCCTTCCCATCACCACATCATGCTCACTCCTTCCTCCCACCACCCCAAGAAGTCTGCTCTGATCGCTTGACTTGGTTGCCCCTCTCTACTGGTGAGCTCTGCATGGTTGCTTCCTGATTCCTGCCCAAGGGTGGGTATCTGGTCTCTGCCTTTGATGTCTACTCATCACACCCCCCTCTCCTGGCCTCTCTGACCACCCCCAGGTCTCCTCGAACTCCACCAGCAGAGTATTCACAACCCTGGTCTTGTGTGATAAGCCCTTGTCCCAGGACCCACAGGACAGGGGGCCAGC... | TCCCCTCTTGCCCTCCTTTTCACCCTCTCCCTTCCCATCACCACATCATGCTCACTCCTTCCTCCCACCACCCCAAGAAGTCTGCTCTGATCGCTTGACTTGGTTGCCCCTCTCTACTGGTGAGCTCTGCATGGTTGCTTCCTGATTCCTGCCCAAGGGTGGGTATCTGGTCTCTGCCTTTGATGTCTACTCATCACACCCCCCTCTCCTGGCCTCTCTGACCACCCCCAGGTCTCCTCGAACTCCACCAGCAGAGTATTCACAACCCTGGTCTTGTGTGATAAGCCCTTGTCCCAGGACCCACAGGACAGGGGGCCAGC... | pathogenic | 106,519 |
Does the variant on chromosome 6 at location 32038437 affecting gene CYP21A2 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GAGCAGGTGGCCTCCAAGTGGGGCTCTGAAGACTGAGAAGGAGCCAGGAAAAGAGCAGGGGTAGATGAGGGCATCTGGGGCAGAAGGAGAATATACAAAGGCCCAGAGGCCGGGGGCAGGACAGGGTACCTTTGGGGACATTGCATGTAATTGACCACATTCGGAGTTTGGATTTGGAAGTGGTGGAAGAGATGGAGATGGTGAGACAAGTAGTAAGCACGTCAGCCTTCCAGGTGCGCTCCTTTCCGATGAGCACTGTCTTATCCCACGTAACTTTGAGAAGTTTGGGCCTTTCCCACTGTGGCAGAGGTTTCCTGAGG... | GAGCAGGTGGCCTCCAAGTGGGGCTCTGAAGACTGAGAAGGAGCCAGGAAAAGAGCAGGGGTAGATGAGGGCATCTGGGGCAGAAGGAGAATATACAAAGGCCCAGAGGCCGGGGGCAGGACAGGGTACCTTTGGGGACATTGCATGTAATTGACCACATTCGGAGTTTGGATTTGGAAGTGGTGGAAGAGATGGAGATGGTGAGACAAGTAGTAAGCACGTCAGCCTTCCAGGTGCGCTCCTTTCCGATGAGCACTGTCTTATCCCACGTAACTTTGAGAAGTTTGGGCCTTTCCCACTGTGGCAGAGGTTTCCTGAGG... | benign | 106,526 |
Evaluate this variant at chromosome 6, position 32039132, gene CYP21A2: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency'] | GGTCGCCTCTGACCTCTCAGGTACCATCCAGGAGGCCCTGGCCTCTCACTGAACCCGGCCACTCCTCTTTGGCATGGCCTCTTCCCAAATCCCCAAACTGCCTCCTTACCCACAAAAGTGGTCTCTGAGTGTCAGTCCAGTGGGACCCCCACCCCTTATGGCTTCAGTTCCCCAAATAGGGCTGGACCCTTGATCCTGATCCAGCTGTGGCTATCCAGCCCCTTCCTGGGGACTTTGGACTTTGAGGGGGGCATGCCCAGTTGTGCTGGGAATCCATACTTTCCCTGGCTGGAGTAGAACCTGTGGACTGTAGTCCTGAG... | GGTCGCCTCTGACCTCTCAGGTACCATCCAGGAGGCCCTGGCCTCTCACTGAACCCGGCCACTCCTCTTTGGCATGGCCTCTTCCCAAATCCCCAAACTGCCTCCTTACCCACAAAAGTGGTCTCTGAGTGTCAGTCCAGTGGGACCCCCACCCCTTATGGCTTCAGTTCCCCAAATAGGGCTGGACCCTTGATCCTGATCCAGCTGTGGCTATCCAGCCCCTTCCTGGGGACTTTGGACTTTGAGGGGGGCATGCCCAGTTGTGCTGGGAATCCATACTTTCCCTGGCTGGAGTAGAACCTGTGGACTGTAGTCCTGAG... | pathogenic | 106,538 |
Is the genetic variant on chromosome 6, position 32039807, gene CYP21A2, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency'] | TGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTG... | TGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTG... | pathogenic | 106,543 |
Clinical classification of chromosome 6, position 32040182, gene CYP21A2: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency'] | TGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGC... | TGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGC... | pathogenic | 106,550 |
Is the chromosome 6, position 32040188 variant in CYP21A2 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency'] | GTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGC... | GTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGC... | pathogenic | 106,551 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 32041097, gene CYP21A2: what disease(s) if pathogenic? | pathogenic; ['CYP21A2-related_disorder', 'Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency'] | TGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCC... | TGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCC... | pathogenic | 106,574 |
Located at chromosome 6 position 32045308, the variant affecting gene TNXB—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Ehlers-Danlos_syndrome', 'Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency', 'Vesicoureteral_reflux_8'] | AAGGTCATGCAGGGGGTAGTCCACCGCGCTGCCTGGGGTCTCCGCCTGCAGAGGCGGGGCTGGGAGTGTAGAGAGGGGCATCAAGGCCTGCCCCCTCCATCCTCGGCCAGAGTCCAGCCTCCCCCCTGCAATCCCCACCCTGAACAAGTCCCCTCCAGAGGCCTCAGGCCTGCTCACCCCCAGGGGCTGTGACCTGGACGTCATAGGTGTCCACAGGATTCTGGGGGGGCTTCCAGTGCAGCACGGCGAATCCCTCGGTCAAGTTCAGTGCACGCAACTGTGTGGGACCGTCAGGAACTGGGGGAAGGGGAGGGGCTCAG... | AAGGTCATGCAGGGGGTAGTCCACCGCGCTGCCTGGGGTCTCCGCCTGCAGAGGCGGGGCTGGGAGTGTAGAGAGGGGCATCAAGGCCTGCCCCCTCCATCCTCGGCCAGAGTCCAGCCTCCCCCCTGCAATCCCCACCCTGAACAAGTCCCCTCCAGAGGCCTCAGGCCTGCTCACCCCCAGGGGCTGTGACCTGGACGTCATAGGTGTCCACAGGATTCTGGGGGGGCTTCCAGTGCAGCACGGCGAATCCCTCGGTCAAGTTCAGTGCACGCAACTGTGTGGGACCGTCAGGAACTGGGGGAAGGGGAGGGGCTCAG... | pathogenic | 106,615 |
Regarding the variant found on chromosome 6 at position 32049596 in gene TNXB (tenascin XB): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GCGAATGAAAGGAAGTAATGCATATGCTTCAGAACTGTGCCTGACACACAGAGGGACTCACTTTCGGAGTTAAGATGGTTGTGTCAGGGCTGATAGAGGGAATCTCACGGGAAGGCTGCAGGGCCAGCTCTGAGGGCTCGGATGAGAGGCAGCTCTGGAAAAGGTGGAGGCTGGACTGGGACTCACCTGTGGTGCTGTCAGCAGAGATGGGGCCCAGTCGTTTCCTGCCTGACAGACCATAGAGCAGGAACCTGTATTTCCTACTGGGCTCCAGGCCCTGGACTGTGACCTCCCGCTGGTTGGCTGCCACCGGCACCACC... | GCGAATGAAAGGAAGTAATGCATATGCTTCAGAACTGTGCCTGACACACAGAGGGACTCACTTTCGGAGTTAAGATGGTTGTGTCAGGGCTGATAGAGGGAATCTCACGGGAAGGCTGCAGGGCCAGCTCTGAGGGCTCGGATGAGAGGCAGCTCTGGAAAAGGTGGAGGCTGGACTGGGACTCACCTGTGGTGCTGTCAGCAGAGATGGGGCCCAGTCGTTTCCTGCCTGACAGACCATAGAGCAGGAACCTGTATTTCCTACTGGGCTCCAGGCCCTGGACTGTGACCTCCCGCTGGTTGGCTGCCACCGGCACCACC... | benign | 106,646 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 32053565, gene TNXB (tenascin XB): what disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency', 'Vesicoureteral_reflux_8'] | AGGTGGAAGCAACCCAGATGTCCATCAATGGATGAAAGGATGAGCAAAGTGTGGTCTGTATGTGTAAAACGAAACATTATTCAGCCTGAAAAGGAAGGAAGTTCTGGCCAGGTGCAGTGGCTCTTGCCTATAATCCCAGCACTTTGGGAGGTCAAGGTGGGAGACTCGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATACCGAGACCCCCATTGCCACAGAAAATAAAATAAAAAGGAAATTCTGACTGATGCTACGACATAGATGAACCTTAAAGACATTGTATTTAATGAAATGAACCATTCAAAAAAGAC... | AGGTGGAAGCAACCCAGATGTCCATCAATGGATGAAAGGATGAGCAAAGTGTGGTCTGTATGTGTAAAACGAAACATTATTCAGCCTGAAAAGGAAGGAAGTTCTGGCCAGGTGCAGTGGCTCTTGCCTATAATCCCAGCACTTTGGGAGGTCAAGGTGGGAGACTCGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATACCGAGACCCCCATTGCCACAGAAAATAAAATAAAAAGGAAATTCTGACTGATGCTACGACATAGATGAACCTTAAAGACATTGTATTTAATGAAATGAACCATTCAAAAAAGAC... | pathogenic | 106,680 |
Variant in TNXB (tenascin XB), chromosome 6, position 32058377—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency', 'Vesicoureteral_reflux_8'] | CTAACACACATGACAAGTTCCAGGGTCAGCTGTGGGGGACCTGGGACAGTCACCAGCACAGCAGAACTCCTGATGGCCCCTCCCTGCTCAGGAGGAGCCAGGGGTCAGCCTCAGAGGAAGGCCCAAGGGGAGCCCCAGCCACAAGCAGGTCTGTGGTGCTGACCGGACCCCTGGCCCATTCCCCACCAGTCATCACCAAAGAGCAAGAGGGTGACCCTCCCACGGCTCCCACCCTGGGGCTGCCATCATCCACTCACCCGTCACCCCAATGACAGAGATGGGGCCCACGCGCTGGCCACCGTGGAAGCCGTACAGGTTCA... | CTAACACACATGACAAGTTCCAGGGTCAGCTGTGGGGGACCTGGGACAGTCACCAGCACAGCAGAACTCCTGATGGCCCCTCCCTGCTCAGGAGGAGCCAGGGGTCAGCCTCAGAGGAAGGCCCAAGGGGAGCCCCAGCCACAAGCAGGTCTGTGGTGCTGACCGGACCCCTGGCCCATTCCCCACCAGTCATCACCAAAGAGCAAGAGGGTGACCCTCCCACGGCTCCCACCCTGGGGCTGCCATCATCCACTCACCCGTCACCCCAATGACAGAGATGGGGCCCACGCGCTGGCCACCGTGGAAGCCGTACAGGTTCA... | pathogenic | 106,717 |
Mutation found at chromosome 6 position 32067911, gene TNXB (tenascin XB): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency', 'Vesicoureteral_reflux_8'] | TGGTCTTGAACTCTTTACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAACCACCTCACCTGGCCATATTGTGGATTTTTTAAAAATAATTTTTTTAAAAAGAGATATACCTTTAAATATTTAGTGATGAAAGCATAGGATGTCTGTGGTTCGTTTTTAAAATACTGCAGTAGTATAACCACACAATGCAATACTGTTTGGCAATAAAAAGCAGTGTAGTGGCTGAGAGAGAGCAGGTGGCTCATGCCTGCTATCCCAGCACTTTGTAAGGCCCAGGCAGGAAGATTCCTTGAAGCCA... | TGGTCTTGAACTCTTTACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAACCACCTCACCTGGCCATATTGTGGATTTTTTAAAAATAATTTTTTTAAAAAGAGATATACCTTTAAATATTTAGTGATGAAAGCATAGGATGTCTGTGGTTCGTTTTTAAAATACTGCAGTAGTATAACCACACAATGCAATACTGTTTGGCAATAAAAAGCAGTGTAGTGGCTGAGAGAGAGCAGGTGGCTCATGCCTGCTATCCCAGCACTTTGTAAGGCCCAGGCAGGAAGATTCCTTGAAGCCA... | pathogenic | 106,760 |
For chromosome 6, position 32081467, gene TNXB (tenascin XB): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Ehlers-Danlos_syndrome', 'Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency', 'Vesicoureteral_reflux_8'] | CAGATGACAGCCATGGAAATGCCCTTACGCTGTGGGCTCAGGGGCTCTGTAGCCTTTGTATTTGCCATTCGGTCACTCACGGATGGAGAAGGCTGAGACAGCCCTTGCCCCATCCTGCTCTGGTGGGTTCTGTGGGGGTGAGGGGTCTCCCTTCGTGTCTGAGAAAGGAGCTGAGATGGGAAGAGAGGAAGCCTCTGAGGGTTCTTCCAAACCACGTTCACTGACAGTGCTGACCTCAGACAGTGAGGAGGGCAGTGAGGCCTCTTCCTACCTGTGCCCTCCCCAGGGCACTCTGGCTGCCCCACCCCTCATATGAGGAT... | CAGATGACAGCCATGGAAATGCCCTTACGCTGTGGGCTCAGGGGCTCTGTAGCCTTTGTATTTGCCATTCGGTCACTCACGGATGGAGAAGGCTGAGACAGCCCTTGCCCCATCCTGCTCTGGTGGGTTCTGTGGGGGTGAGGGGTCTCCCTTCGTGTCTGAGAAAGGAGCTGAGATGGGAAGAGAGGAAGCCTCTGAGGGTTCTTCCAAACCACGTTCACTGACAGTGCTGACCTCAGACAGTGAGGAGGGCAGTGAGGCCTCTTCCTACCTGTGCCCTCCCCAGGGCACTCTGGCTGCCCCACCCCTCATATGAGGAT... | pathogenic | 106,801 |
Variant on chromosome 6, at position 32081646, affecting TNXB (tenascin XB): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency', 'Vesicoureteral_reflux_8'] | GAAGAGAGGAAGCCTCTGAGGGTTCTTCCAAACCACGTTCACTGACAGTGCTGACCTCAGACAGTGAGGAGGGCAGTGAGGCCTCTTCCTACCTGTGCCCTCCCCAGGGCACTCTGGCTGCCCCACCCCTCATATGAGGATCTGACCATGGAATGTGCTCTTGCTGTGGCCTCCCCAGGCAGCCCTGCCCCTCCCTCCCCTTTAACCCCAAGGAATGAATTGCTAAGGCAGGGCTCCAGGCATGAGTGGGAGAAAAATTCTGGGGTGAGTGGGATCCAAGGAGAGACATGTCCTTCCCTGGCTGGCTCTGGAATCACAGC... | GAAGAGAGGAAGCCTCTGAGGGTTCTTCCAAACCACGTTCACTGACAGTGCTGACCTCAGACAGTGAGGAGGGCAGTGAGGCCTCTTCCTACCTGTGCCCTCCCCAGGGCACTCTGGCTGCCCCACCCCTCATATGAGGATCTGACCATGGAATGTGCTCTTGCTGTGGCCTCCCCAGGCAGCCCTGCCCCTCCCTCCCCTTTAACCCCAAGGAATGAATTGCTAAGGCAGGGCTCCAGGCATGAGTGGGAGAAAAATTCTGGGGTGAGTGGGATCCAAGGAGAGACATGTCCTTCCCTGGCTGGCTCTGGAATCACAGC... | pathogenic | 106,803 |
Gene TNXB (tenascin XB) variant at chromosome position 32084566 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency', 'TNXB-related_disorder', 'Vesicoureteral_reflux_8'] | TGGTGTCCACTTTAAGGAATGGGTGCCTTCTTTCAAACGGCATGGAAGCACTGCGTGGACTAGTGTGGCTCTGCCTCCAACCACAAACCAGAGCAGCAGGGAGCTTCAGAAAGAGGGGAGCCCAGCCAGGCCCTTTCACATCTCCATAGCCAGGGAAATCTTCCCAGTACAACCTCCACTGCTTCCAAGCCTAACTACTAGCTGGCTTCTTCTCCAAGAGAGGAGAGCACAATCCTTGAAGCGTTTTAACGTGGGACAGCCTCCCTCATCTATGCTGCAGGCCTCTCCTCCTCTTTGGGAACTTTGACCCATGGATGGAC... | TGGTGTCCACTTTAAGGAATGGGTGCCTTCTTTCAAACGGCATGGAAGCACTGCGTGGACTAGTGTGGCTCTGCCTCCAACCACAAACCAGAGCAGCAGGGAGCTTCAGAAAGAGGGGAGCCCAGCCAGGCCCTTTCACATCTCCATAGCCAGGGAAATCTTCCCAGTACAACCTCCACTGCTTCCAAGCCTAACTACTAGCTGGCTTCTTCTCCAAGAGAGGAGAGCACAATCCTTGAAGCGTTTTAACGTGGGACAGCCTCCCTCATCTATGCTGCAGGCCTCTCCTCCTCTTTGGGAACTTTGACCCATGGATGGAC... | pathogenic | 106,812 |
Variant in gene TNXB (tenascin XB), located at chromosome 6 position 32084569: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency', 'Vesicoureteral_reflux_8'] | TGTCCACTTTAAGGAATGGGTGCCTTCTTTCAAACGGCATGGAAGCACTGCGTGGACTAGTGTGGCTCTGCCTCCAACCACAAACCAGAGCAGCAGGGAGCTTCAGAAAGAGGGGAGCCCAGCCAGGCCCTTTCACATCTCCATAGCCAGGGAAATCTTCCCAGTACAACCTCCACTGCTTCCAAGCCTAACTACTAGCTGGCTTCTTCTCCAAGAGAGGAGAGCACAATCCTTGAAGCGTTTTAACGTGGGACAGCCTCCCTCATCTATGCTGCAGGCCTCTCCTCCTCTTTGGGAACTTTGACCCATGGATGGACTCC... | TGTCCACTTTAAGGAATGGGTGCCTTCTTTCAAACGGCATGGAAGCACTGCGTGGACTAGTGTGGCTCTGCCTCCAACCACAAACCAGAGCAGCAGGGAGCTTCAGAAAGAGGGGAGCCCAGCCAGGCCCTTTCACATCTCCATAGCCAGGGAAATCTTCCCAGTACAACCTCCACTGCTTCCAAGCCTAACTACTAGCTGGCTTCTTCTCCAAGAGAGGAGAGCACAATCCTTGAAGCGTTTTAACGTGGGACAGCCTCCCTCATCTATGCTGCAGGCCTCTCCTCCTCTTTGGGAACTTTGACCCATGGATGGACTCC... | pathogenic | 106,813 |
Determine whether the variant at chromosome 6, position 32089062, in gene TNXB (tenascin XB) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GCTGCCTTGACCTTAGGCATCCACAGGATGGATGCCAGGACCCTGGGGTGGGGACGTCTTCTAGGGACAATGGACTCGTGCTTTGTCCTGGGGGCCCCCTGGAGCCCCGGCCAGGTAGGGCCTGAAGGTAGAAGGGGGCAGTGGGGGGTGGCAGTGGGAGGAATTCATGAATGCAGGCTCCAACGGCAGGTGAGGCTGGACAAGGGATAGGTGTCCCGTGGCCCCAGCCCACACTACCTGTGGTGGTGATGAAGGCGTAGGACTTGGAGGTCTGCCCCGCCCGCACCCCGTGGACCTCCACGTGGTAGGTGGTGCCGGGC... | GCTGCCTTGACCTTAGGCATCCACAGGATGGATGCCAGGACCCTGGGGTGGGGACGTCTTCTAGGGACAATGGACTCGTGCTTTGTCCTGGGGGCCCCCTGGAGCCCCGGCCAGGTAGGGCCTGAAGGTAGAAGGGGGCAGTGGGGGGTGGCAGTGGGAGGAATTCATGAATGCAGGCTCCAACGGCAGGTGAGGCTGGACAAGGGATAGGTGTCCCGTGGCCCCAGCCCACACTACCTGTGGTGGTGATGAAGGCGTAGGACTTGGAGGTCTGCCCCGCCCGCACCCCGTGGACCTCCACGTGGTAGGTGGTGCCGGGC... | benign | 106,820 |
Gene mutation in TNXB (tenascin XB) at chromosome 6, position 32095974—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency', 'Inborn_genetic_diseases', 'Vesicoureteral_reflux_8'] | TCTACTAAAAATACAAACATTAGCAGGCTAAGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAAGAGGATGACCTAAGCCTGGGATGCAGAGGTTGCAGTGAGCTGAGATGGCACCACTGCACTCGAGCCTGGGCCACAGAGTGAGACTCTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCAAGTTGGAGGGAGACAGAGAAAAAACTGGTTTGCATGTACTGATGACAAGGAGGTGGGAGATGAAGTTCACAGACTCAAAATTATTGCAACAGCCTAGACAGCTTGGCCCAAACCA... | TCTACTAAAAATACAAACATTAGCAGGCTAAGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAAGAGGATGACCTAAGCCTGGGATGCAGAGGTTGCAGTGAGCTGAGATGGCACCACTGCACTCGAGCCTGGGCCACAGAGTGAGACTCTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCAAGTTGGAGGGAGACAGAGAAAAAACTGGTTTGCATGTACTGATGACAAGGAGGTGGGAGATGAAGTTCACAGACTCAAAATTATTGCAACAGCCTAGACAGCTTGGCCCAAACCA... | pathogenic | 106,830 |
The genetic variant at chromosome 6, position 32223881, affecting gene NOTCH4 (notch receptor 4): benign or pathogenic? Disease name(s) if pathogenic? | benign | CGGCCCCTTCTGTCCTCTCAGCAACCTTATGAAGTGTGACCATTACTCTCCCTGTTTGTCAGCTGACAACTGAACACCAGAAAGCTAAAATATCTTATATGAGGTCATGTAGCTGATCAGTGGCAGAGCTAGCATTTGGATCCAGGGGCTGGTGCAGAGCCCCTAGAATGAAGCACTAAGCTTGCCCCAGGGTTACACCCCTCCTCCTGGGGCGGCCCCCAATCCACTCTCTGGGTCACATCCTTCCCTTCCCGGTGCCCCTCCCACCACTGCAGTCTTCCCAGGTGATATAATGGCTCCCTCCACTCAGAATGGGAGCC... | CGGCCCCTTCTGTCCTCTCAGCAACCTTATGAAGTGTGACCATTACTCTCCCTGTTTGTCAGCTGACAACTGAACACCAGAAAGCTAAAATATCTTATATGAGGTCATGTAGCTGATCAGTGGCAGAGCTAGCATTTGGATCCAGGGGCTGGTGCAGAGCCCCTAGAATGAAGCACTAAGCTTGCCCCAGGGTTACACCCCTCCTCCTGGGGCGGCCCCCAATCCACTCTCTGGGTCACATCCTTCCCTTCCCGGTGCCCCTCCCACCACTGCAGTCTTCCCAGGTGATATAATGGCTCCCTCCACTCAGAATGGGAGCC... | benign | 106,860 |
Evaluate this variant at chromosome 6, position 32853681, gene TAP1 (transporter 1, ATP binding cassette subfamily B member): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['MHC_class_I_deficiency'] | CAAGAGACCAGGGTTCTAACCCCAAGTGTGTCTCTAGCCATATGTAACTGTGCAGTTTCAGCATTTAGGGTCTTGGCCTCAGTTTCCTTCTCTGTCAGATGAGGCAGTTGGTCTCTATGAGCTCAAAATTTCCAGGTTTGAAATTCTATGGTTTCTATCTAAGGATACATAGGAATAGATTTATAAGAAAATGCTAGATGAAAACTCTAGGTTTTTCTTAAGGTAAGGAGGACAATATTTTGCTCCTGAGGTATATCAAGAATGAGAAAAACAATTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGACAGAGACA... | CAAGAGACCAGGGTTCTAACCCCAAGTGTGTCTCTAGCCATATGTAACTGTGCAGTTTCAGCATTTAGGGTCTTGGCCTCAGTTTCCTTCTCTGTCAGATGAGGCAGTTGGTCTCTATGAGCTCAAAATTTCCAGGTTTGAAATTCTATGGTTTCTATCTAAGGATACATAGGAATAGATTTATAAGAAAATGCTAGATGAAAACTCTAGGTTTTTCTTAAGGTAAGGAGGACAATATTTTGCTCCTGAGGTATATCAAGAATGAGAAAAACAATTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGACAGAGACA... | pathogenic | 106,913 |
Is chromosome 6, position 33164479, gene COL11A2 (collagen type XI alpha 2 chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CAGAAGCAATCGCACACCCGTGTCAGAAACTGGAGCCATAGGGACCCCAAACCCCTACCTGGTGTCCCTGGGGCATTGTTTGTAATTTTATGCTAGTCACCCAGGCTTTGTAAACTCTGGGCCCTGACACCCCAGCTGGACAGGGCTTGCAGGGTATCTGGATTAAGCCATACAATTCTGGTAACCACTTAGCTGGGAAGAGGAAGCATCAGATGGGTGTCGGGGGAGACTGAAATAACAACACAAGCAGTGACACAGACACCTGGGAGGAGACAATCACATTATTTAACCATCAGTCAGCATGGAAGCTGGGCACAGGG... | CAGAAGCAATCGCACACCCGTGTCAGAAACTGGAGCCATAGGGACCCCAAACCCCTACCTGGTGTCCCTGGGGCATTGTTTGTAATTTTATGCTAGTCACCCAGGCTTTGTAAACTCTGGGCCCTGACACCCCAGCTGGACAGGGCTTGCAGGGTATCTGGATTAAGCCATACAATTCTGGTAACCACTTAGCTGGGAAGAGGAAGCATCAGATGGGTGTCGGGGGAGACTGAAATAACAACACAAGCAGTGACACAGACACCTGGGAGGAGACAATCACATTATTTAACCATCAGTCAGCATGGAAGCTGGGCACAGGG... | benign | 106,934 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 33164479, gene COL11A2 (collagen type XI alpha 2 chain). What disease(s) is it linked to if pathogenic? | benign | CAGAAGCAATCGCACACCCGTGTCAGAAACTGGAGCCATAGGGACCCCAAACCCCTACCTGGTGTCCCTGGGGCATTGTTTGTAATTTTATGCTAGTCACCCAGGCTTTGTAAACTCTGGGCCCTGACACCCCAGCTGGACAGGGCTTGCAGGGTATCTGGATTAAGCCATACAATTCTGGTAACCACTTAGCTGGGAAGAGGAAGCATCAGATGGGTGTCGGGGGAGACTGAAATAACAACACAAGCAGTGACACAGACACCTGGGAGGAGACAATCACATTATTTAACCATCAGTCAGCATGGAAGCTGGGCACAGGG... | CAGAAGCAATCGCACACCCGTGTCAGAAACTGGAGCCATAGGGACCCCAAACCCCTACCTGGTGTCCCTGGGGCATTGTTTGTAATTTTATGCTAGTCACCCAGGCTTTGTAAACTCTGGGCCCTGACACCCCAGCTGGACAGGGCTTGCAGGGTATCTGGATTAAGCCATACAATTCTGGTAACCACTTAGCTGGGAAGAGGAAGCATCAGATGGGTGTCGGGGGAGACTGAAATAACAACACAAGCAGTGACACAGACACCTGGGAGGAGACAATCACATTATTTAACCATCAGTCAGCATGGAAGCTGGGCACAGGG... | benign | 106,935 |
Is the genetic change at chromosome 6, position 33170547, within gene COL11A2 (collagen type XI alpha 2 chain) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CAGGGGTCCACCTCACTTACTCGCTTTCCAAGTGGCCCTGGGGGTCCATTCTCCCCGGTGGGACCAGGGGATCCCTAGGGAGAGAGGAATTGGGGTGGCTGAGTGTTTATCCTCCAGCCAAGGGACCCCTCAGGAGTGGGGCACAGAAGAGGGGTAAAGAGGATGAGGCTTGGGCTCAGGGGGGTGGTGGGGTCACCAGGCACTCACAGGCTGTCCTGGCTCACCATCCTCGCCTCGGTCACCCTTAGCACCATCCTGGCCCTGCAGAAGTGAAGCAAGGTCAGAGGTGGGCCCCCAACCTGGCTGGCATCACCTCCAAA... | CAGGGGTCCACCTCACTTACTCGCTTTCCAAGTGGCCCTGGGGGTCCATTCTCCCCGGTGGGACCAGGGGATCCCTAGGGAGAGAGGAATTGGGGTGGCTGAGTGTTTATCCTCCAGCCAAGGGACCCCTCAGGAGTGGGGCACAGAAGAGGGGTAAAGAGGATGAGGCTTGGGCTCAGGGGGGTGGTGGGGTCACCAGGCACTCACAGGCTGTCCTGGCTCACCATCCTCGCCTCGGTCACCCTTAGCACCATCCTGGCCCTGCAGAAGTGAAGCAAGGTCAGAGGTGGGCCCCCAACCTGGCTGGCATCACCTCCAAA... | benign | 106,989 |
Gene COL11A2 (collagen type XI alpha 2 chain) variant at chromosome position 33171150 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_13', 'Autosomal_recessive_nonsyndromic_hearing_loss_53', 'Fibrochondrogenesis_2', 'Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant', 'Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive'] | CAGTGCCCACCAGTACCCCCCAGGAAGAGGTCTCCTGCACCCCTTTCCCTACCACGTGCACTGCGTGTTGTCTAATTCCTCAAGGTATTAACTGCAGGGCATCTCTCACTTTCTCTCCGGATCCTAGACCCCAGGCATCCCTCTGGATGCCCCATTCCCAGAGCATCCCCCAAACTCCCGGGCTCCCCACACTCCAAGATCCTCCCTCACACACACCCATATTCCCAGGTCTGTCATTCACAGGGCCTGAGAGGACTCAGCCCCCACTGCCCCAAACTCACAGGGTTCCCTTTGGGGCCATCATCGCCTGTGGGGCCTTT... | CAGTGCCCACCAGTACCCCCCAGGAAGAGGTCTCCTGCACCCCTTTCCCTACCACGTGCACTGCGTGTTGTCTAATTCCTCAAGGTATTAACTGCAGGGCATCTCTCACTTTCTCTCCGGATCCTAGACCCCAGGCATCCCTCTGGATGCCCCATTCCCAGAGCATCCCCCAAACTCCCGGGCTCCCCACACTCCAAGATCCTCCCTCACACACACCCATATTCCCAGGTCTGTCATTCACAGGGCCTGAGAGGACTCAGCCCCCACTGCCCCAAACTCACAGGGTTCCCTTTGGGGCCATCATCGCCTGTGGGGCCTTT... | pathogenic | 106,993 |
Is the genetic variant on chromosome 6, position 33171183, gene COL11A2 (collagen type XI alpha 2 chain), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CCTGCACCCCTTTCCCTACCACGTGCACTGCGTGTTGTCTAATTCCTCAAGGTATTAACTGCAGGGCATCTCTCACTTTCTCTCCGGATCCTAGACCCCAGGCATCCCTCTGGATGCCCCATTCCCAGAGCATCCCCCAAACTCCCGGGCTCCCCACACTCCAAGATCCTCCCTCACACACACCCATATTCCCAGGTCTGTCATTCACAGGGCCTGAGAGGACTCAGCCCCCACTGCCCCAAACTCACAGGGTTCCCTTTGGGGCCATCATCGCCTGTGGGGCCTTTAGGCCCTGGTGGCCCTGGCTCTCCTGGCTGCCC... | CCTGCACCCCTTTCCCTACCACGTGCACTGCGTGTTGTCTAATTCCTCAAGGTATTAACTGCAGGGCATCTCTCACTTTCTCTCCGGATCCTAGACCCCAGGCATCCCTCTGGATGCCCCATTCCCAGAGCATCCCCCAAACTCCCGGGCTCCCCACACTCCAAGATCCTCCCTCACACACACCCATATTCCCAGGTCTGTCATTCACAGGGCCTGAGAGGACTCAGCCCCCACTGCCCCAAACTCACAGGGTTCCCTTTGGGGCCATCATCGCCTGTGGGGCCTTTAGGCCCTGGTGGCCCTGGCTCTCCTGGCTGCCC... | benign | 106,995 |
The mutation in gene COL11A2 (collagen type XI alpha 2 chain) at chromosome 6, position 33172386—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GGGTCCAGCTGGACCTCGAGGTCCTGGGGGGCCAGGTGGTCCCTGGGGGAAACAGATACACCACAGATGAGGAAGGGAAGTGAGATGGCTGAGCATGAATGGTGGAGAGAGGAGGAGGAGCAGCCAGGCCAGGGAGTTGGCAGTGGGGTGTGGGGTGGGGGCTGGCCAGGGAGGGGGGTGACTAGTATGGTGGCTAGGGTCAGTAGGGGTCACACTCACCATAGGACCCACATCTCCTGTTTCTCCCTTCTCCCCAGAGGGGCCTGGCAAACCCTGTGCAAGTATACAAAACATGGGCCCAGGTGACGACCCCACCCAAA... | GGGTCCAGCTGGACCTCGAGGTCCTGGGGGGCCAGGTGGTCCCTGGGGGAAACAGATACACCACAGATGAGGAAGGGAAGTGAGATGGCTGAGCATGAATGGTGGAGAGAGGAGGAGGAGCAGCCAGGCCAGGGAGTTGGCAGTGGGGTGTGGGGTGGGGGCTGGCCAGGGAGGGGGGTGACTAGTATGGTGGCTAGGGTCAGTAGGGGTCACACTCACCATAGGACCCACATCTCCTGTTTCTCCCTTCTCCCCAGAGGGGCCTGGCAAACCCTGTGCAAGTATACAAAACATGGGCCCAGGTGACGACCCCACCCAAA... | benign | 107,008 |
Does the variant impacting COL11A2 (collagen type XI alpha 2 chain) on chromosome 6, position 33173393, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant'] | AGATATTAGAGAAAGGTGATGGGTAGAGTGGGAAGGATGACATGACAGGGGCCAGGGGTCATGCCCAGGTCAGCCATCTCATCTGGAAAGAAGATTGGTCGGGGTCTGTGGGGTCCCCTCACCTTGTCTCCATCCTCTCCAGCCACACCTGGAGGCCCAGCAGGACCAGGAAGCCCCACAGGACCCTGCACTCCATCTCGGCCAGTCGGGCCAATGGGGCCCTTCTCACCCTGTGGGACAGGAGGAAGGAGTCATGGCCTGGAGGTGACCCTCACCCTCAAACACCCCACAGGAAACTTGTCATAGCCCATCAACCCTAG... | AGATATTAGAGAAAGGTGATGGGTAGAGTGGGAAGGATGACATGACAGGGGCCAGGGGTCATGCCCAGGTCAGCCATCTCATCTGGAAAGAAGATTGGTCGGGGTCTGTGGGGTCCCCTCACCTTGTCTCCATCCTCTCCAGCCACACCTGGAGGCCCAGCAGGACCAGGAAGCCCCACAGGACCCTGCACTCCATCTCGGCCAGTCGGGCCAATGGGGCCCTTCTCACCCTGTGGGACAGGAGGAAGGAGTCATGGCCTGGAGGTGACCCTCACCCTCAAACACCCCACAGGAAACTTGTCATAGCCCATCAACCCTAG... | pathogenic | 107,017 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 33173569, gene COL11A2 (collagen type XI alpha 2 chain). What disease(s) is it linked to if pathogenic? | benign | CACAGGACCCTGCACTCCATCTCGGCCAGTCGGGCCAATGGGGCCCTTCTCACCCTGTGGGACAGGAGGAAGGAGTCATGGCCTGGAGGTGACCCTCACCCTCAAACACCCCACAGGAAACTTGTCATAGCCCATCAACCCTAGGCTCACAGACCCCTCCCCAGTACCCCTCCCCAATACCCCCACACTCACTGGGACACCTTTCTCTCCTGCTGCTCCAGGGGGACCCTGCGGGCCTGGGCGCCCTGGCGGACCAATGGGTCCCCCTGATCCTGCTGCACCTCGTTCCCCAGGGGAGCCCTGAGAAAGCAGATGGTCAG... | CACAGGACCCTGCACTCCATCTCGGCCAGTCGGGCCAATGGGGCCCTTCTCACCCTGTGGGACAGGAGGAAGGAGTCATGGCCTGGAGGTGACCCTCACCCTCAAACACCCCACAGGAAACTTGTCATAGCCCATCAACCCTAGGCTCACAGACCCCTCCCCAGTACCCCTCCCCAATACCCCCACACTCACTGGGACACCTTTCTCTCCTGCTGCTCCAGGGGGACCCTGCGGGCCTGGGCGCCCTGGCGGACCAATGGGTCCCCCTGATCCTGCTGCACCTCGTTCCCCAGGGGAGCCCTGAGAAAGCAGATGGTCAG... | benign | 107,020 |
Does the variant on chromosome 6 at location 33173749 affecting gene COL11A2 (collagen type XI alpha 2 chain) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CCCCACACTCACTGGGACACCTTTCTCTCCTGCTGCTCCAGGGGGACCCTGCGGGCCTGGGCGCCCTGGCGGACCAATGGGTCCCCCTGATCCTGCTGCACCTCGTTCCCCAGGGGAGCCCTGAGAAAGCAGATGGTCAGACCCCCAGGAAGGAGACACCAGCCCGCCCATACCAGAGAACCTCAGACCACAATTCCCAAAAGCTCCCAAAATCAGATGCATTCTGGCTGTCCCTGGACAGCCTCTGCCCAGCCCCACAGCCCCTGGTGGTATCAGAATGCCACTCCCACCCTTCCTCACCCACCCCTTTCCCGGGTCCT... | CCCCACACTCACTGGGACACCTTTCTCTCCTGCTGCTCCAGGGGGACCCTGCGGGCCTGGGCGCCCTGGCGGACCAATGGGTCCCCCTGATCCTGCTGCACCTCGTTCCCCAGGGGAGCCCTGAGAAAGCAGATGGTCAGACCCCCAGGAAGGAGACACCAGCCCGCCCATACCAGAGAACCTCAGACCACAATTCCCAAAAGCTCCCAAAATCAGATGCATTCTGGCTGTCCCTGGACAGCCTCTGCCCAGCCCCACAGCCCCTGGTGGTATCAGAATGCCACTCCCACCCTTCCTCACCCACCCCTTTCCCGGGTCCT... | benign | 107,024 |
Gene COL11A2 (collagen type XI alpha 2 chain) variant at chromosome 6, position 33173997—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CCAGCCCCACAGCCCCTGGTGGTATCAGAATGCCACTCCCACCCTTCCTCACCCACCCCTTTCCCGGGTCCTTCCTACCACTTCCGGAACCCCAGACTCACTGCAGGGCCAGGGGGGCCAGACGGACCTTCATTCCCCTTCAAACCAGGTCCACCCTATGAACCAGACATTTGGGGAAGATGAGACTTCACGAAAAGAGAAGGGTGAGAGCTGGAGAGGGAAGACAGGCTCCAAAAGATGGAAGTGGGGAGTGACATGGAGGGGGTCAGGGACAGGGTCGGGGTGGGGACTCAGGATGCTTGGTGCTTGTGACAGGCAGG... | CCAGCCCCACAGCCCCTGGTGGTATCAGAATGCCACTCCCACCCTTCCTCACCCACCCCTTTCCCGGGTCCTTCCTACCACTTCCGGAACCCCAGACTCACTGCAGGGCCAGGGGGGCCAGACGGACCTTCATTCCCCTTCAAACCAGGTCCACCCTATGAACCAGACATTTGGGGAAGATGAGACTTCACGAAAAGAGAAGGGTGAGAGCTGGAGAGGGAAGACAGGCTCCAAAAGATGGAAGTGGGGAGTGACATGGAGGGGGTCAGGGACAGGGTCGGGGTGGGGACTCAGGATGCTTGGTGCTTGTGACAGGCAGG... | benign | 107,027 |
Chromosome 6, position 33174151, gene COL11A2 (collagen type XI alpha 2 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCTATGAACCAGACATTTGGGGAAGATGAGACTTCACGAAAAGAGAAGGGTGAGAGCTGGAGAGGGAAGACAGGCTCCAAAAGATGGAAGTGGGGAGTGACATGGAGGGGGTCAGGGACAGGGTCGGGGTGGGGACTCAGGATGCTTGGTGCTTGTGACAGGCAGGGGTCTGGGAGTCACACTCACAGCAGTGCCTGGGAGGCCTCTCTCTCCTGGGAATCCCCTCAGACCAGCAGGACCATCCTTCCCTGGGGCCCCAGGGGGACCAGGGTCACCCTAAAAGGAAAGGAGAGGTGATGAGCCACAGCCATGCTCCCAAA... | CCTATGAACCAGACATTTGGGGAAGATGAGACTTCACGAAAAGAGAAGGGTGAGAGCTGGAGAGGGAAGACAGGCTCCAAAAGATGGAAGTGGGGAGTGACATGGAGGGGGTCAGGGACAGGGTCGGGGTGGGGACTCAGGATGCTTGGTGCTTGTGACAGGCAGGGGTCTGGGAGTCACACTCACAGCAGTGCCTGGGAGGCCTCTCTCTCCTGGGAATCCCCTCAGACCAGCAGGACCATCCTTCCCTGGGGCCCCAGGGGGACCAGGGTCACCCTAAAAGGAAAGGAGAGGTGATGAGCCACAGCCATGCTCCCAAA... | benign | 107,030 |
Determine if the mutation at chromosome 6, position 33174235 in gene COL11A2 (collagen type XI alpha 2 chain) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TGGAAGTGGGGAGTGACATGGAGGGGGTCAGGGACAGGGTCGGGGTGGGGACTCAGGATGCTTGGTGCTTGTGACAGGCAGGGGTCTGGGAGTCACACTCACAGCAGTGCCTGGGAGGCCTCTCTCTCCTGGGAATCCCCTCAGACCAGCAGGACCATCCTTCCCTGGGGCCCCAGGGGGACCAGGGTCACCCTAAAAGGAAAGGAGAGGTGATGAGCCACAGCCATGCTCCCAAATTAAACAGAGAGCTCTCCAGCCCCCCCTCAAATCTCCAACTACCTGTTCCTTTCAGCACCCCAATCCCCAGCTCCCCCACTTCC... | TGGAAGTGGGGAGTGACATGGAGGGGGTCAGGGACAGGGTCGGGGTGGGGACTCAGGATGCTTGGTGCTTGTGACAGGCAGGGGTCTGGGAGTCACACTCACAGCAGTGCCTGGGAGGCCTCTCTCTCCTGGGAATCCCCTCAGACCAGCAGGACCATCCTTCCCTGGGGCCCCAGGGGGACCAGGGTCACCCTAAAAGGAAAGGAGAGGTGATGAGCCACAGCCATGCTCCCAAATTAAACAGAGAGCTCTCCAGCCCCCCCTCAAATCTCCAACTACCTGTTCCTTTCAGCACCCCAATCCCCAGCTCCCCCACTTCC... | benign | 107,034 |
The mutation in gene COL11A2 (collagen type XI alpha 2 chain) at chromosome 6, position 33176751—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive'] | GCCTCTAGCCCCTCATTGCTTGCCCCACAGCTGCCTGACTTTTGTTGTCTCTCCTTCCCGTGAGTGGATTTTCCCCAATTCTAGTGCTGGGATCCCACCTCCCCTGCGCCTACAGAGGTATCAGGTCCTTCAGGGTCACTGTGATCTAGCTGCTTCCCACATGTCAACCTCAGCTCCATCTACCCCATGAGGGAGGTGGGATCTACCCCAGCACCCACTCCTGCTTCACCAAGACCAATCCCCCTGCAGGCCCTTTGCCCACCACACCCCGACTCCCGTGCATGCCCCCTTCCCCAGAGGCTCCAGGGCTCATCCTGCCC... | GCCTCTAGCCCCTCATTGCTTGCCCCACAGCTGCCTGACTTTTGTTGTCTCTCCTTCCCGTGAGTGGATTTTCCCCAATTCTAGTGCTGGGATCCCACCTCCCCTGCGCCTACAGAGGTATCAGGTCCTTCAGGGTCACTGTGATCTAGCTGCTTCCCACATGTCAACCTCAGCTCCATCTACCCCATGAGGGAGGTGGGATCTACCCCAGCACCCACTCCTGCTTCACCAAGACCAATCCCCCTGCAGGCCCTTTGCCCACCACACCCCGACTCCCGTGCATGCCCCCTTCCCCAGAGGCTCCAGGGCTCATCCTGCCC... | pathogenic | 107,053 |
The mutation impacting COL11A2 (collagen type XI alpha 2 chain) on chromosome 6 at position 33178193: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GTGGAAGCAGGGGCTCGGGAGCTGGACGGCAGTGCGGGGCAGGCTGGAGGGAAGGCAGTGAAGAGAGGAGATGGCAGGACTGAGGTGCTGGGAAGCTGGGGGCATGGTGCTCACCTTCTCACCCTTATGACCCTTCAGACCCCGAATTCCGTCCACACCCTAGAATTAGAGAGGGGATAGAAGTAGACTGATCAGGGGATGGAGGTGGGTTGGAAGGACCAAGCTCCTAAGACCCCATATAGCTCCCCTGACCACAGCCCTTTGTCTCCCAGCCTGGTGGTCAGTTACCTTGACCCCTCGAGGTCCTGGGTATCCTAGAG... | GTGGAAGCAGGGGCTCGGGAGCTGGACGGCAGTGCGGGGCAGGCTGGAGGGAAGGCAGTGAAGAGAGGAGATGGCAGGACTGAGGTGCTGGGAAGCTGGGGGCATGGTGCTCACCTTCTCACCCTTATGACCCTTCAGACCCCGAATTCCGTCCACACCCTAGAATTAGAGAGGGGATAGAAGTAGACTGATCAGGGGATGGAGGTGGGTTGGAAGGACCAAGCTCCTAAGACCCCATATAGCTCCCCTGACCACAGCCCTTTGTCTCCCAGCCTGGTGGTCAGTTACCTTGACCCCTCGAGGTCCTGGGTATCCTAGAG... | benign | 107,066 |
Determine whether the variant at chromosome 6, position 33178675, in gene COL11A2 (collagen type XI alpha 2 chain) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant'] | ATATGAATAATGAGACAAGGGAATCCCAAGGACTTTGAGGCTCTAGAGTCTGAGTGGAGACTCCCTCAGGGGATAAAGACATGGAAGATCTCACCTGGTTTCCTTTGGTTCCAGGGGGACCTTCCTTCCCTGGGTGACCCTGGGAGTAAGGGATAGAAAATGTGACCAGTGGCCCCTGTCACCCTCTCTGCACCCCTCCCTACACTTCTTCCAACCCAAATTTCCTGTGACCTAGTGAAGCCAACTGTCCATGGACAAGCACCACCAGTGACCTTTCAGTGCAAGGGTCACTAAAGGAGCTCTGAGGTCATGCACTGGGG... | ATATGAATAATGAGACAAGGGAATCCCAAGGACTTTGAGGCTCTAGAGTCTGAGTGGAGACTCCCTCAGGGGATAAAGACATGGAAGATCTCACCTGGTTTCCTTTGGTTCCAGGGGGACCTTCCTTCCCTGGGTGACCCTGGGAGTAAGGGATAGAAAATGTGACCAGTGGCCCCTGTCACCCTCTCTGCACCCCTCCCTACACTTCTTCCAACCCAAATTTCCTGTGACCTAGTGAAGCCAACTGTCCATGGACAAGCACCACCAGTGACCTTTCAGTGCAAGGGTCACTAAAGGAGCTCTGAGGTCATGCACTGGGG... | pathogenic | 107,071 |
Clinically, how would you classify the variant at chromosome 6, position 33178734, gene COL11A2 (collagen type XI alpha 2 chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | ACTCCCTCAGGGGATAAAGACATGGAAGATCTCACCTGGTTTCCTTTGGTTCCAGGGGGACCTTCCTTCCCTGGGTGACCCTGGGAGTAAGGGATAGAAAATGTGACCAGTGGCCCCTGTCACCCTCTCTGCACCCCTCCCTACACTTCTTCCAACCCAAATTTCCTGTGACCTAGTGAAGCCAACTGTCCATGGACAAGCACCACCAGTGACCTTTCAGTGCAAGGGTCACTAAAGGAGCTCTGAGGTCATGCACTGGGGTGGAAGGCCAAGGGGAACTGGATTCGGAAGTGGGGTCCCACTCACCGGGGGTCCGTCTG... | ACTCCCTCAGGGGATAAAGACATGGAAGATCTCACCTGGTTTCCTTTGGTTCCAGGGGGACCTTCCTTCCCTGGGTGACCCTGGGAGTAAGGGATAGAAAATGTGACCAGTGGCCCCTGTCACCCTCTCTGCACCCCTCCCTACACTTCTTCCAACCCAAATTTCCTGTGACCTAGTGAAGCCAACTGTCCATGGACAAGCACCACCAGTGACCTTTCAGTGCAAGGGTCACTAAAGGAGCTCTGAGGTCATGCACTGGGGTGGAAGGCCAAGGGGAACTGGATTCGGAAGTGGGGTCCCACTCACCGGGGGTCCGTCTG... | benign | 107,074 |
Is the chromosome 6, position 33180240 variant in COL11A2 (collagen type XI alpha 2 chain) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TCACGGTGAGGGGAGGAGACGGCATGAATGGATAAAACTGTGTCCCTTTAGTGCTCATGTCCCCCTCCTGGCTTCCCCAGAGCCCCCTCCCCCAGCACCAGCCCTTGGACACTCACCGACTCTCCAGGCAGCCCTCGAGGCCCAATCTCCCCGTCATCTCCCTGGAGGAGGAGGACACGGTAAAGCTGCTGTGCCTTCTAGACCTCCCCTGCACCCAGCCCCTACATTTGCCACTACACTTACCCTCTCTCCATCCTCACCAGGGGGACCAGGAAGGCCCTGGGCACCAGTATCACCCTGCAAAATGGGGGAACTCATAA... | TCACGGTGAGGGGAGGAGACGGCATGAATGGATAAAACTGTGTCCCTTTAGTGCTCATGTCCCCCTCCTGGCTTCCCCAGAGCCCCCTCCCCCAGCACCAGCCCTTGGACACTCACCGACTCTCCAGGCAGCCCTCGAGGCCCAATCTCCCCGTCATCTCCCTGGAGGAGGAGGACACGGTAAAGCTGCTGTGCCTTCTAGACCTCCCCTGCACCCAGCCCCTACATTTGCCACTACACTTACCCTCTCTCCATCCTCACCAGGGGGACCAGGAAGGCCCTGGGCACCAGTATCACCCTGCAAAATGGGGGAACTCATAA... | benign | 107,089 |
Chromosome 6, position 33184244, gene COL11A2 (collagen type XI alpha 2 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | CCCAGGAGGTGGAGGTTGAAGTGAACCAAGATTATGCCATCGTACTCCAGCCTAGGCAACAAGAGCAAAACTCCATCTCAAAGAAAAAAAAGAATCTGATGAAAGCTGTGAGTCTTTCTCCAGAAATGAAAAAGTATATGCTATTATGCACAGAATTTTATTTAGGATTTCAAAGGGTTCACAAGTTTAAATATGCCCCAAAGGTTAAGCATCCATACTCTAAGTAAATTTGGAGGCCAGGCACGGTGGCGCACGCCTGTAATCCCAGCACTTTGTGGGGCCGAAACAGGCAGCTTATTTGAGGTCAGTAGTTTGAGACC... | CCCAGGAGGTGGAGGTTGAAGTGAACCAAGATTATGCCATCGTACTCCAGCCTAGGCAACAAGAGCAAAACTCCATCTCAAAGAAAAAAAAGAATCTGATGAAAGCTGTGAGTCTTTCTCCAGAAATGAAAAAGTATATGCTATTATGCACAGAATTTTATTTAGGATTTCAAAGGGTTCACAAGTTTAAATATGCCCCAAAGGTTAAGCATCCATACTCTAAGTAAATTTGGAGGCCAGGCACGGTGGCGCACGCCTGTAATCCCAGCACTTTGTGGGGCCGAAACAGGCAGCTTATTTGAGGTCAGTAGTTTGAGACC... | pathogenic | 107,103 |
Does the variant on chromosome 6 at location 33192173 affecting gene COL11A2 (collagen type XI alpha 2 chain) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive'] | CATGCTGAGGAAAAAGATACAAGAAAGCTCTCCCAGGAGTCTGTGCCTCCTGGTTTAGGAGATGAGTTGGGGAGGGGTGGAGGAATGGGGGGCAGGGGCTGAAGCTGCCACGAGGAGCCGGAACAGGTCCAGGGCCCTGAGCCACACATCTGTGGATCCCATCAGAGTGCTTGCCCAGAACCCAGGCAAGCTCCCCACACCTGGAACCTCAATCCTGTCTCACCACCCCCACCAACCCCACCACCTGGGACCCAAAGATTCAAGATCCAGCCCACCAGCCCTGTCTAACTAGAACTCAGCTTCCTAGGGCTCAAACTCCC... | CATGCTGAGGAAAAAGATACAAGAAAGCTCTCCCAGGAGTCTGTGCCTCCTGGTTTAGGAGATGAGTTGGGGAGGGGTGGAGGAATGGGGGGCAGGGGCTGAAGCTGCCACGAGGAGCCGGAACAGGTCCAGGGCCCTGAGCCACACATCTGTGGATCCCATCAGAGTGCTTGCCCAGAACCCAGGCAAGCTCCCCACACCTGGAACCTCAATCCTGTCTCACCACCCCCACCAACCCCACCACCTGGGACCCAAAGATTCAAGATCCAGCCCACCAGCCCTGTCTAACTAGAACTCAGCTTCCTAGGGCTCAAACTCCC... | pathogenic | 107,135 |
Considering the genetic mutation at chromosome 6, position 33313727, impacting TAPBP (TAP binding protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TGCTTTGACCCCAGTTGTTTGTGAAATACAGACAATCTTACCACCCGGGCACTTCCAGGGCTCCCTGTCTGCATGTCCTTCACTTTCTACTTTACATTAGGATTATCCGTGGCAAATACGCCCAGAACCTCCTGGAGAGCAGAGTCTACATCAGATCATCTTTGTGACCCTTAAGGGCACCCAGGGCCACCCCAGAGATTCTGATTTAATCGGCCAAGCTAAGCATGGGATTGAATCAGGTTTCAGTATATTTTAGAAACCTCCAACAGTGTGGACTGAGAACTGCTGAGTCCTAACTCATTCTTGGTGCTAAAAAGTAT... | TGCTTTGACCCCAGTTGTTTGTGAAATACAGACAATCTTACCACCCGGGCACTTCCAGGGCTCCCTGTCTGCATGTCCTTCACTTTCTACTTTACATTAGGATTATCCGTGGCAAATACGCCCAGAACCTCCTGGAGAGCAGAGTCTACATCAGATCATCTTTGTGACCCTTAAGGGCACCCAGGGCCACCCCAGAGATTCTGATTTAATCGGCCAAGCTAAGCATGGGATTGAATCAGGTTTCAGTATATTTTAGAAACCTCCAACAGTGTGGACTGAGAACTGCTGAGTCCTAACTCATTCTTGGTGCTAAAAAGTAT... | benign | 107,147 |
A genetic alteration at chromosome 6, position 33420340, in gene SYNGAP1 (synaptic Ras GTPase activating protein 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AACCCGAAACTGCCACTTGCTGGCTGAGGAGAGCCGCTGCGGCGTTCCACTGTCACGTGAGGGGGCCGGTCCTCTTCGGCGGCGGCACTCAGTGAGTGACGCCAAGTGGCCAATCACAGGCCAGCCTCGCAGGCCACGTGAGGCGAGAGCTGGTTCCAGGAAAGGGGGGCCAGAGACCCCGCAGAGTCGATGCGTCAGGCTGTGGAGTGGGGAATCATCCTTAAACCCCACAATGTGCCTAGTGACCTCCCCTGCACTGTTTCCGAGGTCTTAAGGAGTGGGAGGGTCTGAGAAGGACCCTTCACCCCAAACTCAGGGGT... | AACCCGAAACTGCCACTTGCTGGCTGAGGAGAGCCGCTGCGGCGTTCCACTGTCACGTGAGGGGGCCGGTCCTCTTCGGCGGCGGCACTCAGTGAGTGACGCCAAGTGGCCAATCACAGGCCAGCCTCGCAGGCCACGTGAGGCGAGAGCTGGTTCCAGGAAAGGGGGGCCAGAGACCCCGCAGAGTCGATGCGTCAGGCTGTGGAGTGGGGAATCATCCTTAAACCCCACAATGTGCCTAGTGACCTCCCCTGCACTGTTTCCGAGGTCTTAAGGAGTGGGAGGGTCTGAGAAGGACCCTTCACCCCAAACTCAGGGGT... | benign | 107,153 |
Mutation found at chromosome 6 position 33432197, gene SYNGAP1 (synaptic Ras GTPase activating protein 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Infantile_epilepsy_syndrome', 'Intellectual_disability,_autosomal_dominant_5'] | GATGAGCTTGCACATGAAAATAATGGCTGAGCTCGGTTCCCTGAAATGAGAGTGAGGCAGCCATACCTGAGAAATGCAGAAAAAATGTTACTAGGGAAGAGATATCCTGAACCATTGGATGCATTGCTTAGTGTGTACCAGAAGGATAATTAACACATTTGCTCCTGGTTTTTCTTTACTCTGGTGGCAATCTCGGATGCCTGTGTTAGAGTGAGAGAAGGGCTGGGGGAGGAAAGGGGGTTGTCCTGAGACAGAGTGGATGTGGTTGTACTTTTCACGTGAATGAAAGGATGTTTGTGCTTCTGAGATATGGGGATACC... | GATGAGCTTGCACATGAAAATAATGGCTGAGCTCGGTTCCCTGAAATGAGAGTGAGGCAGCCATACCTGAGAAATGCAGAAAAAATGTTACTAGGGAAGAGATATCCTGAACCATTGGATGCATTGCTTAGTGTGTACCAGAAGGATAATTAACACATTTGCTCCTGGTTTTTCTTTACTCTGGTGGCAATCTCGGATGCCTGTGTTAGAGTGAGAGAAGGGCTGGGGGAGGAAAGGGGGTTGTCCTGAGACAGAGTGGATGTGGTTGTACTTTTCACGTGAATGAAAGGATGTTTGTGCTTCTGAGATATGGGGATACC... | pathogenic | 107,166 |
A genetic alteration at chromosome 6, position 33432675, in gene SYNGAP1 (synaptic Ras GTPase activating protein 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CAGCAGCTCTCATGTGGGTCACTGGGTTCAAGTATGTACTCCCTTGTTGCAGAGCTCACATATGTCAAAGCATGTATCCTGTGGGGTGTGTGGGCCTCAGGGTCTCAGAATGTGGATCCGTGCTATGCCCGTGCTCACAGTTGTCTGTATGTCTCAAAAGCACATAGATCCCCAGTTATTTTTCTGTATTGTGGTTCTCATATACACGTACCTCCATAGCTCAGTATATGTTTCTGTACTATACACCTGTTCCTGAGGGAGTGATAGGGTTCTCGTGTCATGGGGTCCACATTTTTGTATGCAAACCTCCTAACACCTGG... | CAGCAGCTCTCATGTGGGTCACTGGGTTCAAGTATGTACTCCCTTGTTGCAGAGCTCACATATGTCAAAGCATGTATCCTGTGGGGTGTGTGGGCCTCAGGGTCTCAGAATGTGGATCCGTGCTATGCCCGTGCTCACAGTTGTCTGTATGTCTCAAAAGCACATAGATCCCCAGTTATTTTTCTGTATTGTGGTTCTCATATACACGTACCTCCATAGCTCAGTATATGTTTCTGTACTATACACCTGTTCCTGAGGGAGTGATAGGGTTCTCGTGTCATGGGGTCCACATTTTTGTATGCAAACCTCCTAACACCTGG... | benign | 107,170 |
Is the genetic variant on chromosome 6, position 33435294, gene SYNGAP1 (synaptic Ras GTPase activating protein 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Intellectual_disability,_autosomal_dominant_5'] | GAGTGGGGCTGGGGGTGGCTGAATGAATGGATGATGGCTAGGGCTCAAGGACCTCATCAGTGAGGGAAGAGACAGTATAGAGCATGGCAGAGAAGGGGAGGCTGGGACAGGTGTGCAGGGTGACAGAATGGGAAGCAACCCATGGACTGAGGCATGAAGAAGCAGCCAGCGGAGAAGTCCAGAAGGCACTGTCCCTGAGACCAGGCTGAAGGAGACCTCCACTGTTTGCCTTTGTTGCCTGCCATTTGGGGTTCCTCTCTGGGTTTCCCCCTCACCCAGTCACTCCCCAGGGAGAACCATGCCCTCCCTTTCCCCCATGT... | GAGTGGGGCTGGGGGTGGCTGAATGAATGGATGATGGCTAGGGCTCAAGGACCTCATCAGTGAGGGAAGAGACAGTATAGAGCATGGCAGAGAAGGGGAGGCTGGGACAGGTGTGCAGGGTGACAGAATGGGAAGCAACCCATGGACTGAGGCATGAAGAAGCAGCCAGCGGAGAAGTCCAGAAGGCACTGTCCCTGAGACCAGGCTGAAGGAGACCTCCACTGTTTGCCTTTGTTGCCTGCCATTTGGGGTTCCTCTCTGGGTTTCCCCCTCACCCAGTCACTCCCCAGGGAGAACCATGCCCTCCCTTTCCCCCATGT... | pathogenic | 107,181 |
Clinical significance of chromosome 6, position 33437727, gene SYNGAP1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Intellectual_disability,_autosomal_dominant_5', 'SYNGAP1-related_disorder'] | GGCCTAGGGAGGAAAGTGAGTTAAAGGAGGAGAGGCTTGGGGAAGGAGAGGATTGAGGTACAGTGTATCTGGACAAGCAGGGGGAGACCCCCATTATTCTGAGTCCCCCATTTCTTTTCGCTTTCTGTACTGCTACCCTGCCTTACGATCTCTTTCCCTGCCATAGAAGTCATAGACTTACAGAGTTGATGGGGCTCTGGAAATTCTTTAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTG... | GGCCTAGGGAGGAAAGTGAGTTAAAGGAGGAGAGGCTTGGGGAAGGAGAGGATTGAGGTACAGTGTATCTGGACAAGCAGGGGGAGACCCCCATTATTCTGAGTCCCCCATTTCTTTTCGCTTTCTGTACTGCTACCCTGCCTTACGATCTCTTTCCCTGCCATAGAAGTCATAGACTTACAGAGTTGATGGGGCTCTGGAAATTCTTTAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTG... | pathogenic | 107,188 |
A genetic variant at chromosome 6, position 33438059, affecting gene SYNGAP1—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Intellectual_disability,_autosomal_dominant_5'] | TGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATATCACCTGAGCCTTACCATTAGCTTGTGCTCAATTGTATCCCCCCAGGCCCTTACTGATTCTTTTTTTTTT... | TGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATATCACCTGAGCCTTACCATTAGCTTGTGCTCAATTGTATCCCCCCAGGCCCTTACTGATTCTTTTTTTTTT... | pathogenic | 107,198 |
Clinically, how would you classify the variant at chromosome 6, position 33438071, gene SYNGAP1: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Intellectual_disability,_autosomal_dominant_5'] | TCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATATCACCTGAGCCTTACCATTAGCTTGTGCTCAATTGTATCCCCCCAGGCCCTTACTGATTCTTTTTTTTTTTTTTTTGAGACA... | TCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATATCACCTGAGCCTTACCATTAGCTTGTGCTCAATTGTATCCCCCCAGGCCCTTACTGATTCTTTTTTTTTTTTTTTTGAGACA... | pathogenic | 107,200 |
A mutation at chromosome position 33438071 on chromosome 6 in gene SYNGAP1: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_dominant_5'] | TCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATATCACCTGAGCCTTACCATTAGCTTGTGCTCAATTGTATCCCCCCAGGCCCTTACTGATTCTTTTTTTTTTTTTTTTGAGACA... | TCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATATCACCTGAGCCTTACCATTAGCTTGTGCTCAATTGTATCCCCCCAGGCCCTTACTGATTCTTTTTTTTTTTTTTTTGAGACA... | pathogenic | 107,201 |
Is the genetic change at chromosome 6, position 33438423, within gene SYNGAP1 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Intellectual_disability,_autosomal_dominant_5'] | GTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCAATTCCTGTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCA... | GTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCAATTCCTGTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCA... | pathogenic | 107,208 |
Located at chromosome 6 position 33438483, the variant affecting gene SYNGAP1—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Intellectual_disability,_autosomal_dominant_5'] | CAGCCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCAAATTCTACATTAATATTTTTGGCTTGTTATTCCAGCTTTTGAAATCTTTCCAATACTGTT... | CAGCCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCAAATTCTACATTAATATTTTTGGCTTGTTATTCCAGCTTTTGAAATCTTTCCAATACTGTT... | pathogenic | 107,210 |
Variant on chromosome 6, at position 33438881, affecting SYNGAP1: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_dominant_5'] | GTAAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGC... | GTAAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGC... | pathogenic | 107,217 |
The genetic variant at chromosome 6, position 33440599, affecting gene SYNGAP1: benign or pathogenic? Disease name(s) if pathogenic? | benign | AAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCCCAAGTCCACCCTTCCACAGCTTGATACTTCCTAACCCAGAGTCCTAGGACTCCAGCCTCCAACACCTGATTCTGAAATTTCCCCAACCCTGGCCACCCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACC... | AAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCCCAAGTCCACCCTTCCACAGCTTGATACTTCCTAACCCAGAGTCCTAGGACTCCAGCCTCCAACACCTGATTCTGAAATTTCCCCAACCCTGGCCACCCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACC... | benign | 107,219 |
Does the genetic variant at chromosome 6, position 33440833, impacting gene SYNGAP1, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Intellectual_disability,_autosomal_dominant_5'] | CCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATG... | CCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATG... | pathogenic | 107,228 |
Regarding the variant at chromosome 6 and position 33440986, affecting gene SYNGAP1: benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTT... | GGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTT... | benign | 107,236 |
Mutation at chromosome 6, position 33442906, within SYNGAP1: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Intellectual_disability,_autosomal_dominant_5'] | TATGTCGCCCAGTCTCTTTGGGCTTATGCAGGAGTACCCAGATGAGCAGACCTCACGAACCCTCACCCTCATTGCCAAGGTCATCCAGAACCTGGCCAACTTTTCCAAGTGAGGGAAGCTTCAGGAGTGGGCAGGGCAGGGAGTGGCAGGGCAGGGAGTGGCAGGGCTGGGGGTCGGCAAGAAGGGTCTCCTGAGTCCCCAGAGATCCTGAGATGGGGAGGCTATGATACCTTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGACCTTTATCTTCTGCATTCTTGGCTAGGTTTA... | TATGTCGCCCAGTCTCTTTGGGCTTATGCAGGAGTACCCAGATGAGCAGACCTCACGAACCCTCACCCTCATTGCCAAGGTCATCCAGAACCTGGCCAACTTTTCCAAGTGAGGGAAGCTTCAGGAGTGGGCAGGGCAGGGAGTGGCAGGGCAGGGAGTGGCAGGGCTGGGGGTCGGCAAGAAGGGTCTCCTGAGTCCCCAGAGATCCTGAGATGGGGAGGCTATGATACCTTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGACCTTTATCTTCTGCATTCTTGGCTAGGTTTA... | pathogenic | 107,254 |
Evaluate if the mutation on chromosome 6 at position 33442934 in SYNGAP1 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_dominant_5'] | CAGGAGTACCCAGATGAGCAGACCTCACGAACCCTCACCCTCATTGCCAAGGTCATCCAGAACCTGGCCAACTTTTCCAAGTGAGGGAAGCTTCAGGAGTGGGCAGGGCAGGGAGTGGCAGGGCAGGGAGTGGCAGGGCTGGGGGTCGGCAAGAAGGGTCTCCTGAGTCCCCAGAGATCCTGAGATGGGGAGGCTATGATACCTTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGACCTTTATCTTCTGCATTCTTGGCTAGGTTTACCTCAAAGGAGGACTTTCTGGGCTTCAT... | CAGGAGTACCCAGATGAGCAGACCTCACGAACCCTCACCCTCATTGCCAAGGTCATCCAGAACCTGGCCAACTTTTCCAAGTGAGGGAAGCTTCAGGAGTGGGCAGGGCAGGGAGTGGCAGGGCAGGGAGTGGCAGGGCTGGGGGTCGGCAAGAAGGGTCTCCTGAGTCCCCAGAGATCCTGAGATGGGGAGGCTATGATACCTTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGACCTTTATCTTCTGCATTCTTGGCTAGGTTTACCTCAAAGGAGGACTTTCTGGGCTTCAT... | pathogenic | 107,257 |
Determine whether the variant at chromosome 6, position 33442989, in gene SYNGAP1 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Intellectual_disability,_autosomal_dominant_5'] | TCCAGAACCTGGCCAACTTTTCCAAGTGAGGGAAGCTTCAGGAGTGGGCAGGGCAGGGAGTGGCAGGGCAGGGAGTGGCAGGGCTGGGGGTCGGCAAGAAGGGTCTCCTGAGTCCCCAGAGATCCTGAGATGGGGAGGCTATGATACCTTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGACCTTTATCTTCTGCATTCTTGGCTAGGTTTACCTCAAAGGAGGACTTTCTGGGCTTCATGAATGAGTTTCTGGAGCTGGAATGGGGTTCCATGCAGCAGTTTTTGTATGAGATC... | TCCAGAACCTGGCCAACTTTTCCAAGTGAGGGAAGCTTCAGGAGTGGGCAGGGCAGGGAGTGGCAGGGCAGGGAGTGGCAGGGCTGGGGGTCGGCAAGAAGGGTCTCCTGAGTCCCCAGAGATCCTGAGATGGGGAGGCTATGATACCTTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGACCTTTATCTTCTGCATTCTTGGCTAGGTTTACCTCAAAGGAGGACTTTCTGGGCTTCATGAATGAGTTTCTGGAGCTGGAATGGGGTTCCATGCAGCAGTTTTTGTATGAGATC... | pathogenic | 107,260 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 33443150, gene SYNGAP1. What disease(s) is it linked to if pathogenic? | pathogenic; ['Intellectual_disability,_autosomal_dominant_5'] | TATGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGACCTTTATCTTCTGCATTCTTGGCTAGGTTTACCTCAAAGGAGGACTTTCTGGGCTTCATGAATGAGTTTCTGGAGCTGGAATGGGGTTCCATGCAGCAGTTTTTGTATGAGATCTCCAATCTGGACACGCTAACCAACAGCAGTAGCTTTGAGGGTTACATCGACTTGGGCCGAGAGCTCTCCACACTGCATGCCCTACTCTGGGAGGTGCTGCCCCAGCTCAGCAAGGTCAGCAGATCCCCTCTTTGCCCTATCCCCAGATGGCTCCAGAGGTT... | TATGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGACCTTTATCTTCTGCATTCTTGGCTAGGTTTACCTCAAAGGAGGACTTTCTGGGCTTCATGAATGAGTTTCTGGAGCTGGAATGGGGTTCCATGCAGCAGTTTTTGTATGAGATCTCCAATCTGGACACGCTAACCAACAGCAGTAGCTTTGAGGGTTACATCGACTTGGGCCGAGAGCTCTCCACACTGCATGCCCTACTCTGGGAGGTGCTGCCCCAGCTCAGCAAGGTCAGCAGATCCCCTCTTTGCCCTATCCCCAGATGGCTCCAGAGGTT... | pathogenic | 107,267 |
Does the chromosome 6 mutation at position 33443340 within gene SYNGAP1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Developmental_disorder', 'Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_dominant_5'] | GCTTTGAGGGTTACATCGACTTGGGCCGAGAGCTCTCCACACTGCATGCCCTACTCTGGGAGGTGCTGCCCCAGCTCAGCAAGGTCAGCAGATCCCCTCTTTGCCCTATCCCCAGATGGCTCCAGAGGTTCCTGGAGCCTGAGAAACTACCCTTTGAAGATTTTTTTTCTCCCCTTGTTTCTCGAGGTGTCACCACTACTATCCCAACTCAGGCCCCCTCCACCTGCACCCTCAGAGGCCCTCTTAGAGCTGGGCACTGAGCCCCCAGGTAACAGCCTCACCCTTCCAGGAAGCCCTCCTGAAGCTGGGTCCACTGCCCC... | GCTTTGAGGGTTACATCGACTTGGGCCGAGAGCTCTCCACACTGCATGCCCTACTCTGGGAGGTGCTGCCCCAGCTCAGCAAGGTCAGCAGATCCCCTCTTTGCCCTATCCCCAGATGGCTCCAGAGGTTCCTGGAGCCTGAGAAACTACCCTTTGAAGATTTTTTTTCTCCCCTTGTTTCTCGAGGTGTCACCACTACTATCCCAACTCAGGCCCCCTCCACCTGCACCCTCAGAGGCCCTCTTAGAGCTGGGCACTGAGCCCCCAGGTAACAGCCTCACCCTTCCAGGAAGCCCTCCTGAAGCTGGGTCCACTGCCCC... | pathogenic | 107,278 |
Variant in SYNGAP1, chromosome 6, position 33443467—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Inborn_genetic_diseases'] | GTTCCTGGAGCCTGAGAAACTACCCTTTGAAGATTTTTTTTCTCCCCTTGTTTCTCGAGGTGTCACCACTACTATCCCAACTCAGGCCCCCTCCACCTGCACCCTCAGAGGCCCTCTTAGAGCTGGGCACTGAGCCCCCAGGTAACAGCCTCACCCTTCCAGGAAGCCCTCCTGAAGCTGGGTCCACTGCCCCGGCTCCTCAACGACATCAGCACAGCTCTGAGGAACCCCAACATCCAAAGGCAGCCAAGCCGCCAGAGTGAGCGGCCCCGGCCTCAGCCTGTGGTACTGCGGGGGCCATCGGCTGAGATGCAGGGCTA... | GTTCCTGGAGCCTGAGAAACTACCCTTTGAAGATTTTTTTTCTCCCCTTGTTTCTCGAGGTGTCACCACTACTATCCCAACTCAGGCCCCCTCCACCTGCACCCTCAGAGGCCCTCTTAGAGCTGGGCACTGAGCCCCCAGGTAACAGCCTCACCCTTCCAGGAAGCCCTCCTGAAGCTGGGTCCACTGCCCCGGCTCCTCAACGACATCAGCACAGCTCTGAGGAACCCCAACATCCAAAGGCAGCCAAGCCGCCAGAGTGAGCGGCCCCGGCCTCAGCCTGTGGTACTGCGGGGGCCATCGGCTGAGATGCAGGGCTA... | pathogenic | 107,286 |
Does the variant impacting SYNGAP1 on chromosome 6, position 33443685, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Intellectual_disability,_autosomal_dominant_5'] | TCTGAGGAACCCCAACATCCAAAGGCAGCCAAGCCGCCAGAGTGAGCGGCCCCGGCCTCAGCCTGTGGTACTGCGGGGGCCATCGGCTGAGATGCAGGGCTACATGATGCGGGACCTCAACAGGTGAGCACCCTGGGACAGCCAGGCCTGTGCCCTAGGAGCCCTTCTCCTATTCTAGATACTCCTCACTGGGCCCCACATGCATCTCTCTAGGGCTTGAAAGAAGGGAGGAAAAAGCACCAAGTTCTCAGGGGAGACGATAAGGAGACAGGTACAGTCAGTGGTAGGCTGAGAGCCCTTTACAGCCTGAGGGAGTGAGA... | TCTGAGGAACCCCAACATCCAAAGGCAGCCAAGCCGCCAGAGTGAGCGGCCCCGGCCTCAGCCTGTGGTACTGCGGGGGCCATCGGCTGAGATGCAGGGCTACATGATGCGGGACCTCAACAGGTGAGCACCCTGGGACAGCCAGGCCTGTGCCCTAGGAGCCCTTCTCCTATTCTAGATACTCCTCACTGGGCCCCACATGCATCTCTCTAGGGCTTGAAAGAAGGGAGGAAAAAGCACCAAGTTCTCAGGGGAGACGATAAGGAGACAGGTACAGTCAGTGGTAGGCTGAGAGCCCTTTACAGCCTGAGGGAGTGAGA... | pathogenic | 107,291 |
Is chromosome 6, position 33443708, gene SYNGAP1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GGCAGCCAAGCCGCCAGAGTGAGCGGCCCCGGCCTCAGCCTGTGGTACTGCGGGGGCCATCGGCTGAGATGCAGGGCTACATGATGCGGGACCTCAACAGGTGAGCACCCTGGGACAGCCAGGCCTGTGCCCTAGGAGCCCTTCTCCTATTCTAGATACTCCTCACTGGGCCCCACATGCATCTCTCTAGGGCTTGAAAGAAGGGAGGAAAAAGCACCAAGTTCTCAGGGGAGACGATAAGGAGACAGGTACAGTCAGTGGTAGGCTGAGAGCCCTTTACAGCCTGAGGGAGTGAGAGATTTGGAGCTCTAGGAATAGGG... | GGCAGCCAAGCCGCCAGAGTGAGCGGCCCCGGCCTCAGCCTGTGGTACTGCGGGGGCCATCGGCTGAGATGCAGGGCTACATGATGCGGGACCTCAACAGGTGAGCACCCTGGGACAGCCAGGCCTGTGCCCTAGGAGCCCTTCTCCTATTCTAGATACTCCTCACTGGGCCCCACATGCATCTCTCTAGGGCTTGAAAGAAGGGAGGAAAAAGCACCAAGTTCTCAGGGGAGACGATAAGGAGACAGGTACAGTCAGTGGTAGGCTGAGAGCCCTTTACAGCCTGAGGGAGTGAGAGATTTGGAGCTCTAGGAATAGGG... | benign | 107,294 |
Variant in SYNGAP1, chromosome 6, position 33443726—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Intellectual_disability,_autosomal_dominant_5'] | GTGAGCGGCCCCGGCCTCAGCCTGTGGTACTGCGGGGGCCATCGGCTGAGATGCAGGGCTACATGATGCGGGACCTCAACAGGTGAGCACCCTGGGACAGCCAGGCCTGTGCCCTAGGAGCCCTTCTCCTATTCTAGATACTCCTCACTGGGCCCCACATGCATCTCTCTAGGGCTTGAAAGAAGGGAGGAAAAAGCACCAAGTTCTCAGGGGAGACGATAAGGAGACAGGTACAGTCAGTGGTAGGCTGAGAGCCCTTTACAGCCTGAGGGAGTGAGAGATTTGGAGCTCTAGGAATAGGGCTGAGGCTCCACCAACTC... | GTGAGCGGCCCCGGCCTCAGCCTGTGGTACTGCGGGGGCCATCGGCTGAGATGCAGGGCTACATGATGCGGGACCTCAACAGGTGAGCACCCTGGGACAGCCAGGCCTGTGCCCTAGGAGCCCTTCTCCTATTCTAGATACTCCTCACTGGGCCCCACATGCATCTCTCTAGGGCTTGAAAGAAGGGAGGAAAAAGCACCAAGTTCTCAGGGGAGACGATAAGGAGACAGGTACAGTCAGTGGTAGGCTGAGAGCCCTTTACAGCCTGAGGGAGTGAGAGATTTGGAGCTCTAGGAATAGGGCTGAGGCTCCACCAACTC... | pathogenic | 107,297 |
The mutation impacting SYNGAP1 on chromosome 6 at position 33443726: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Intellectual_disability,_autosomal_dominant_5'] | GTGAGCGGCCCCGGCCTCAGCCTGTGGTACTGCGGGGGCCATCGGCTGAGATGCAGGGCTACATGATGCGGGACCTCAACAGGTGAGCACCCTGGGACAGCCAGGCCTGTGCCCTAGGAGCCCTTCTCCTATTCTAGATACTCCTCACTGGGCCCCACATGCATCTCTCTAGGGCTTGAAAGAAGGGAGGAAAAAGCACCAAGTTCTCAGGGGAGACGATAAGGAGACAGGTACAGTCAGTGGTAGGCTGAGAGCCCTTTACAGCCTGAGGGAGTGAGAGATTTGGAGCTCTAGGAATAGGGCTGAGGCTCCACCAACTC... | GTGAGCGGCCCCGGCCTCAGCCTGTGGTACTGCGGGGGCCATCGGCTGAGATGCAGGGCTACATGATGCGGGACCTCAACAGGTGAGCACCCTGGGACAGCCAGGCCTGTGCCCTAGGAGCCCTTCTCCTATTCTAGATACTCCTCACTGGGCCCCACATGCATCTCTCTAGGGCTTGAAAGAAGGGAGGAAAAAGCACCAAGTTCTCAGGGGAGACGATAAGGAGACAGGTACAGTCAGTGGTAGGCTGAGAGCCCTTTACAGCCTGAGGGAGTGAGAGATTTGGAGCTCTAGGAATAGGGCTGAGGCTCCACCAACTC... | pathogenic | 107,298 |
Is the chromosome 6, position 33443781 variant in SYNGAP1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_dominant_5'] | GGGCTACATGATGCGGGACCTCAACAGGTGAGCACCCTGGGACAGCCAGGCCTGTGCCCTAGGAGCCCTTCTCCTATTCTAGATACTCCTCACTGGGCCCCACATGCATCTCTCTAGGGCTTGAAAGAAGGGAGGAAAAAGCACCAAGTTCTCAGGGGAGACGATAAGGAGACAGGTACAGTCAGTGGTAGGCTGAGAGCCCTTTACAGCCTGAGGGAGTGAGAGATTTGGAGCTCTAGGAATAGGGCTGAGGCTCCACCAACTCACGGCTTAGTTGTAAGCCTAGAGCATCCCTGCTGCAAGCTCTGATTTGCTGTCCC... | GGGCTACATGATGCGGGACCTCAACAGGTGAGCACCCTGGGACAGCCAGGCCTGTGCCCTAGGAGCCCTTCTCCTATTCTAGATACTCCTCACTGGGCCCCACATGCATCTCTCTAGGGCTTGAAAGAAGGGAGGAAAAAGCACCAAGTTCTCAGGGGAGACGATAAGGAGACAGGTACAGTCAGTGGTAGGCTGAGAGCCCTTTACAGCCTGAGGGAGTGAGAGATTTGGAGCTCTAGGAATAGGGCTGAGGCTCCACCAACTCACGGCTTAGTTGTAAGCCTAGAGCATCCCTGCTGCAAGCTCTGATTTGCTGTCCC... | pathogenic | 107,303 |
A genetic alteration at chromosome 6, position 33443871, in gene SYNGAP1—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Intellectual_disability,_autosomal_dominant_5'] | CACTGGGCCCCACATGCATCTCTCTAGGGCTTGAAAGAAGGGAGGAAAAAGCACCAAGTTCTCAGGGGAGACGATAAGGAGACAGGTACAGTCAGTGGTAGGCTGAGAGCCCTTTACAGCCTGAGGGAGTGAGAGATTTGGAGCTCTAGGAATAGGGCTGAGGCTCCACCAACTCACGGCTTAGTTGTAAGCCTAGAGCATCCCTGCTGCAAGCTCTGATTTGCTGTCCCTCTGCCTGCCCATGCTAGTCCCCAGGCTGAGGTTCAGCCAGCATGTCATGTCAGCCATGTGTCAAAATGTTCAAACATCTCAGTAATAGC... | CACTGGGCCCCACATGCATCTCTCTAGGGCTTGAAAGAAGGGAGGAAAAAGCACCAAGTTCTCAGGGGAGACGATAAGGAGACAGGTACAGTCAGTGGTAGGCTGAGAGCCCTTTACAGCCTGAGGGAGTGAGAGATTTGGAGCTCTAGGAATAGGGCTGAGGCTCCACCAACTCACGGCTTAGTTGTAAGCCTAGAGCATCCCTGCTGCAAGCTCTGATTTGCTGTCCCTCTGCCTGCCCATGCTAGTCCCCAGGCTGAGGTTCAGCCAGCATGTCATGTCAGCCATGTGTCAAAATGTTCAAACATCTCAGTAATAGC... | pathogenic | 107,309 |
Is the genetic change at chromosome 6, position 33443930, within gene SYNGAP1 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Intellectual_disability,_autosomal_dominant_5'] | TCTCAGGGGAGACGATAAGGAGACAGGTACAGTCAGTGGTAGGCTGAGAGCCCTTTACAGCCTGAGGGAGTGAGAGATTTGGAGCTCTAGGAATAGGGCTGAGGCTCCACCAACTCACGGCTTAGTTGTAAGCCTAGAGCATCCCTGCTGCAAGCTCTGATTTGCTGTCCCTCTGCCTGCCCATGCTAGTCCCCAGGCTGAGGTTCAGCCAGCATGTCATGTCAGCCATGTGTCAAAATGTTCAAACATCTCAGTAATAGCTAGTGAATAAGCACTTCCCCCAGCCCCCGACCACAACCCCACAGACCTCCCCATGATCC... | TCTCAGGGGAGACGATAAGGAGACAGGTACAGTCAGTGGTAGGCTGAGAGCCCTTTACAGCCTGAGGGAGTGAGAGATTTGGAGCTCTAGGAATAGGGCTGAGGCTCCACCAACTCACGGCTTAGTTGTAAGCCTAGAGCATCCCTGCTGCAAGCTCTGATTTGCTGTCCCTCTGCCTGCCCATGCTAGTCCCCAGGCTGAGGTTCAGCCAGCATGTCATGTCAGCCATGTGTCAAAATGTTCAAACATCTCAGTAATAGCTAGTGAATAAGCACTTCCCCCAGCCCCCGACCACAACCCCACAGACCTCCCCATGATCC... | pathogenic | 107,315 |
Is the genetic change at chromosome 6, position 33444450, within gene SYNGAP1 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_dominant_5'] | CATCTCTCTCCTTCTCTGTCTGTGCTCGCCCCTCTTTCCATCTCTCTCCAGCTCCATCGACCTTCAGTCCTTCATGGCTCGAGGCCTCAACAGGTGAGGGGCTCTCCCCTCCCCCGCCCTCCTCTCCTCTCCTGTCTGTTCCCTCTCCCACTCCACTGGCCTTCGCCCTACTCCTCTCCTCTCCTCCTCCATGGACCTCATCTCCTCCATATGTGCCCAGCCCTGCCCCCATCCCTTCTCTTGCTGCCCCCATCTCCCCTCCTCTAGGCCTCACCCCCTTCCCGGAGGGGCCCTGTCCTTTCCCTTTACTCACCTGTCCC... | CATCTCTCTCCTTCTCTGTCTGTGCTCGCCCCTCTTTCCATCTCTCTCCAGCTCCATCGACCTTCAGTCCTTCATGGCTCGAGGCCTCAACAGGTGAGGGGCTCTCCCCTCCCCCGCCCTCCTCTCCTCTCCTGTCTGTTCCCTCTCCCACTCCACTGGCCTTCGCCCTACTCCTCTCCTCTCCTCCTCCATGGACCTCATCTCCTCCATATGTGCCCAGCCCTGCCCCCATCCCTTCTCTTGCTGCCCCCATCTCCCCTCCTCTAGGCCTCACCCCCTTCCCGGAGGGGCCCTGTCCTTTCCCTTTACTCACCTGTCCC... | pathogenic | 107,316 |
Evaluate this variant at chromosome 6, position 33655890, gene ITPR3 (inositol 1,4,5-trisphosphate receptor type 3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GTTGGGAATTGCCTGCCTCTAACAAGGCACTGAGATCCACAAAATGATGTGGGGAAGCCCTGGGAGTGCCAACCCAGCCTGAAGAGGCAGGAGGACCCCAGCTGCCTCCTGAGGGCCGAGCCGAACCCATAAAGATGCACTCTCTGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTTGTAGGCCGAAGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCTTGGGCAATATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTG... | GTTGGGAATTGCCTGCCTCTAACAAGGCACTGAGATCCACAAAATGATGTGGGGAAGCCCTGGGAGTGCCAACCCAGCCTGAAGAGGCAGGAGGACCCCAGCTGCCTCCTGAGGGCCGAGCCGAACCCATAAAGATGCACTCTCTGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTTGTAGGCCGAAGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCTTGGGCAATATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTG... | benign | 107,340 |
Gene mutation in RPS10 at chromosome 6, position 34424715—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Diamond-Blackfan_anemia', 'Diamond-Blackfan_anemia_9'] | CAGGCTGGTCTTGAACTCCTGGTCTCATGTGATCCTCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCTAAGGCACAAACTTTAAGAGCTACCTTAAAAAAATTATCATAAATGGCCAGACGCAGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTGATCACTTGAGGCCAGGAGTTCAAGAACAACCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAATTACAAAAATTAGCCGGGTGTGGTGGTGCACGCCTGTGATCCCAGCTACCAAGAAGCTGAGGCA... | CAGGCTGGTCTTGAACTCCTGGTCTCATGTGATCCTCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCTAAGGCACAAACTTTAAGAGCTACCTTAAAAAAATTATCATAAATGGCCAGACGCAGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTGATCACTTGAGGCCAGGAGTTCAAGAACAACCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAATTACAAAAATTAGCCGGGTGTGGTGGTGCACGCCTGTGATCCCAGCTACCAAGAAGCTGAGGCA... | pathogenic | 107,376 |
Gene FANCE variant at chromosome 6, position 35452658—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Fanconi_anemia_complementation_group_E'] | GCAATAAGGCTGCTTCTGCATTCAATCTGTTGCAATATTACTTGTCACTTAGCTTCTGGAAAACTTCACAGTGCATTTTTGCATTATGAAAATAGTAATAACCTCATGAATCTTGTGAAAGGGACTCGGGGATCCACCAGGGTCCTTGAGCCATGTTTAGAACTTTTCCTCCCTGTTCCCTTTCAGGTGGCCAGAATACAGACCTTGGTGGGTGGGAGCCACAGCCACTCAGAGTAAAGCTGTAGGTGAGGATGCACAGGGCATTGCAGGCTTTTTAGCATTCTTGGCCCTGCCTGCTATTCATCAGGTCCCACTCCTCT... | GCAATAAGGCTGCTTCTGCATTCAATCTGTTGCAATATTACTTGTCACTTAGCTTCTGGAAAACTTCACAGTGCATTTTTGCATTATGAAAATAGTAATAACCTCATGAATCTTGTGAAAGGGACTCGGGGATCCACCAGGGTCCTTGAGCCATGTTTAGAACTTTTCCTCCCTGTTCCCTTTCAGGTGGCCAGAATACAGACCTTGGTGGGTGGGAGCCACAGCCACTCAGAGTAAAGCTGTAGGTGAGGATGCACAGGGCATTGCAGGCTTTTTAGCATTCTTGGCCCTGCCTGCTATTCATCAGGTCCCACTCCTCT... | pathogenic | 107,402 |
A genetic alteration at chromosome 6, position 35452793, in gene FANCE—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Fanconi_anemia_complementation_group_E'] | ACCAGGGTCCTTGAGCCATGTTTAGAACTTTTCCTCCCTGTTCCCTTTCAGGTGGCCAGAATACAGACCTTGGTGGGTGGGAGCCACAGCCACTCAGAGTAAAGCTGTAGGTGAGGATGCACAGGGCATTGCAGGCTTTTTAGCATTCTTGGCCCTGCCTGCTATTCATCAGGTCCCACTCCTCTAACAGCTTGTCATTCGAAGACCCAAAACATCCCCTGTAAAGTTAGAGCTGCTTACCTGAAACAGAAGGTGTCTGGAAGAAACTTCTTTCTTGCTATTTTGGCATTTGCAAAGCAGCCATTATCTAAGAAATATCA... | ACCAGGGTCCTTGAGCCATGTTTAGAACTTTTCCTCCCTGTTCCCTTTCAGGTGGCCAGAATACAGACCTTGGTGGGTGGGAGCCACAGCCACTCAGAGTAAAGCTGTAGGTGAGGATGCACAGGGCATTGCAGGCTTTTTAGCATTCTTGGCCCTGCCTGCTATTCATCAGGTCCCACTCCTCTAACAGCTTGTCATTCGAAGACCCAAAACATCCCCTGTAAAGTTAGAGCTGCTTACCTGAAACAGAAGGTGTCTGGAAGAAACTTCTTTCTTGCTATTTTGGCATTTGCAAAGCAGCCATTATCTAAGAAATATCA... | pathogenic | 107,406 |
Clinical significance of chromosome 6, position 35455794, gene FANCE (FA complementation group E): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia_complementation_group_E'] | ATGGGTCAGGAGAACTTGTCTGAATCCCCAAATTGGAAGCTATAGAAATGTTTGCCCAGCTATCTGGCTTATTCTGGATAGAGTAAGGAGAGGGCAGGGCCTTAACCTGGGGCCCCTGGATAGAAGAGTATTTCAGCACAATTGATTTCCTTTATAATCCTAGATATTTTATCAAATGCATTTAACACTCATTCTGATCACAGGTCTCTGGCACTAAAACAGGTTAAAATTTCCTGGAGTAGGGTCTTCCCTATCTCTCTACCCCCAAATATCCTCCCCACCACAAATTAGCCATCTTTTAAACTTAGGTTTTTTTTGTT... | ATGGGTCAGGAGAACTTGTCTGAATCCCCAAATTGGAAGCTATAGAAATGTTTGCCCAGCTATCTGGCTTATTCTGGATAGAGTAAGGAGAGGGCAGGGCCTTAACCTGGGGCCCCTGGATAGAAGAGTATTTCAGCACAATTGATTTCCTTTATAATCCTAGATATTTTATCAAATGCATTTAACACTCATTCTGATCACAGGTCTCTGGCACTAAAACAGGTTAAAATTTCCTGGAGTAGGGTCTTCCCTATCTCTCTACCCCCAAATATCCTCCCCACCACAAATTAGCCATCTTTTAAACTTAGGTTTTTTTTGTT... | pathogenic | 107,412 |
Determine whether the variant at chromosome 6, position 35455829, in gene FANCE (FA complementation group E) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Fanconi_anemia_complementation_group_E'] | GAAGCTATAGAAATGTTTGCCCAGCTATCTGGCTTATTCTGGATAGAGTAAGGAGAGGGCAGGGCCTTAACCTGGGGCCCCTGGATAGAAGAGTATTTCAGCACAATTGATTTCCTTTATAATCCTAGATATTTTATCAAATGCATTTAACACTCATTCTGATCACAGGTCTCTGGCACTAAAACAGGTTAAAATTTCCTGGAGTAGGGTCTTCCCTATCTCTCTACCCCCAAATATCCTCCCCACCACAAATTAGCCATCTTTTAAACTTAGGTTTTTTTTGTTTGTTTTGTTTTTTTTTTTGACGGAATCTTGCTCTG... | GAAGCTATAGAAATGTTTGCCCAGCTATCTGGCTTATTCTGGATAGAGTAAGGAGAGGGCAGGGCCTTAACCTGGGGCCCCTGGATAGAAGAGTATTTCAGCACAATTGATTTCCTTTATAATCCTAGATATTTTATCAAATGCATTTAACACTCATTCTGATCACAGGTCTCTGGCACTAAAACAGGTTAAAATTTCCTGGAGTAGGGTCTTCCCTATCTCTCTACCCCCAAATATCCTCCCCACCACAAATTAGCCATCTTTTAAACTTAGGTTTTTTTTGTTTGTTTTGTTTTTTTTTTTGACGGAATCTTGCTCTG... | pathogenic | 107,414 |
Chromosome 6, position 35455834, gene FANCE (FA complementation group E): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_E'] | TATAGAAATGTTTGCCCAGCTATCTGGCTTATTCTGGATAGAGTAAGGAGAGGGCAGGGCCTTAACCTGGGGCCCCTGGATAGAAGAGTATTTCAGCACAATTGATTTCCTTTATAATCCTAGATATTTTATCAAATGCATTTAACACTCATTCTGATCACAGGTCTCTGGCACTAAAACAGGTTAAAATTTCCTGGAGTAGGGTCTTCCCTATCTCTCTACCCCCAAATATCCTCCCCACCACAAATTAGCCATCTTTTAAACTTAGGTTTTTTTTGTTTGTTTTGTTTTTTTTTTTGACGGAATCTTGCTCTGTTGCC... | TATAGAAATGTTTGCCCAGCTATCTGGCTTATTCTGGATAGAGTAAGGAGAGGGCAGGGCCTTAACCTGGGGCCCCTGGATAGAAGAGTATTTCAGCACAATTGATTTCCTTTATAATCCTAGATATTTTATCAAATGCATTTAACACTCATTCTGATCACAGGTCTCTGGCACTAAAACAGGTTAAAATTTCCTGGAGTAGGGTCTTCCCTATCTCTCTACCCCCAAATATCCTCCCCACCACAAATTAGCCATCTTTTAAACTTAGGTTTTTTTTGTTTGTTTTGTTTTTTTTTTTGACGGAATCTTGCTCTGTTGCC... | pathogenic | 107,415 |
Evaluate the clinical significance of the mutation at chromosome 6, position 35455845 in gene FANCE (FA complementation group E): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Fanconi_anemia_complementation_group_E'] | TTGCCCAGCTATCTGGCTTATTCTGGATAGAGTAAGGAGAGGGCAGGGCCTTAACCTGGGGCCCCTGGATAGAAGAGTATTTCAGCACAATTGATTTCCTTTATAATCCTAGATATTTTATCAAATGCATTTAACACTCATTCTGATCACAGGTCTCTGGCACTAAAACAGGTTAAAATTTCCTGGAGTAGGGTCTTCCCTATCTCTCTACCCCCAAATATCCTCCCCACCACAAATTAGCCATCTTTTAAACTTAGGTTTTTTTTGTTTGTTTTGTTTTTTTTTTTGACGGAATCTTGCTCTGTTGCCCAAGCTGGAGT... | TTGCCCAGCTATCTGGCTTATTCTGGATAGAGTAAGGAGAGGGCAGGGCCTTAACCTGGGGCCCCTGGATAGAAGAGTATTTCAGCACAATTGATTTCCTTTATAATCCTAGATATTTTATCAAATGCATTTAACACTCATTCTGATCACAGGTCTCTGGCACTAAAACAGGTTAAAATTTCCTGGAGTAGGGTCTTCCCTATCTCTCTACCCCCAAATATCCTCCCCACCACAAATTAGCCATCTTTTAAACTTAGGTTTTTTTTGTTTGTTTTGTTTTTTTTTTTGACGGAATCTTGCTCTGTTGCCCAAGCTGGAGT... | pathogenic | 107,416 |
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