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 chromosome 16 mutation at position 89280764 within gene ANKRD11 (ankyrin repeat domain containing 11) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['KBG_syndrome'] | GGTGGCTCTCGTGAGGCCGTCCTGGTGGACGGGGAGTGGAGAGGGGAGAGTGAGCGGCGTGAAGGGGGAGCCCCACACGAGTGGGACCGGGGTGCACCCAGGGTGAGGGGGAGGTCAGGAGACCGAGGCCTGGCACGGACCAGCTGGAGGAAGGACCTCGGGTCTGCAGAACAGCTGGGCAGCTTCCGGCTTTTGCCTCCACAGCAGAAGTGGGGCTGTGTCTCCTCAGGTGGCAGAAGGTCGAGAGAGGTCAAGGGCCATGAGTGGGACAAGACGGGCTGGAGGAAGCCGTGACTAGGGGCCCCAGACGCATCCCAGAG... | GGTGGCTCTCGTGAGGCCGTCCTGGTGGACGGGGAGTGGAGAGGGGAGAGTGAGCGGCGTGAAGGGGGAGCCCCACACGAGTGGGACCGGGGTGCACCCAGGGTGAGGGGGAGGTCAGGAGACCGAGGCCTGGCACGGACCAGCTGGAGGAAGGACCTCGGGTCTGCAGAACAGCTGGGCAGCTTCCGGCTTTTGCCTCCACAGCAGAAGTGGGGCTGTGTCTCCTCAGGTGGCAGAAGGTCGAGAGAGGTCAAGGGCCATGAGTGGGACAAGACGGGCTGGAGGAAGCCGTGACTAGGGGCCCCAGACGCATCCCAGAG... | pathogenic | 258,547 |
Determine whether the variant at chromosome 16, position 89281307, in gene ANKRD11 (ankyrin repeat domain containing 11) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['KBG_syndrome'] | TCGATGGCATCCAGCTTGATGGCGTCCACGATGGCGGCCAGCGTCTGCTGGATCACCTCCCGCGTCTGCTGCGTGGACGTGTTCAGCTGCTGCTGCAGCTGCTGGGTGGAGCGCTGAAAGCGGCGTTTGCGCGGATGCTGGGCCTGGGCGTCGTCGTCCTCGGAGCCGCGGGCCTTGGCCCTGGTGACCGGGGCAGGGGTGGGGGCGCACTCCTTCTCGGAGGGGGGCGGGCCCTGCTTGCTCTGGTTCGCGAGCATCTGCGCCCGGTTCCTGGTCATGCGCTGAGGGATCTCCTCCACTCGGGGGGCCTTCGGGGCTTC... | TCGATGGCATCCAGCTTGATGGCGTCCACGATGGCGGCCAGCGTCTGCTGGATCACCTCCCGCGTCTGCTGCGTGGACGTGTTCAGCTGCTGCTGCAGCTGCTGGGTGGAGCGCTGAAAGCGGCGTTTGCGCGGATGCTGGGCCTGGGCGTCGTCGTCCTCGGAGCCGCGGGCCTTGGCCCTGGTGACCGGGGCAGGGGTGGGGGCGCACTCCTTCTCGGAGGGGGGCGGGCCCTGCTTGCTCTGGTTCGCGAGCATCTGCGCCCGGTTCCTGGTCATGCGCTGAGGGATCTCCTCCACTCGGGGGGCCTTCGGGGCTTC... | pathogenic | 258,582 |
Evaluate if the mutation on chromosome 16 at position 89281576 in ANKRD11 (ankyrin repeat domain containing 11) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['ANKRD11-related_disorder', 'KBG_syndrome'] | CCTGGTCATGCGCTGAGGGATCTCCTCCACTCGGGGGGCCTTCGGGGCTTCGGCCGTGGGTTTTGGTTCTGCGGCTTCCGGCTGGATGCCGCCAGGAGGGCCTTCGGCTGGGGCGGCGGCACGGGAGGCCTCAGTGTCGTCCTCGGGGCCGGCACCGTCTGCGGCCTGAGCTTGTGCCACAGTGTTCGGGGCGGGGCCGTCAGGGGCACAGAGGGACGCGGCGGGGGGGCCTTCAGCCTCAGCCCCCTGGTCTCCGCTCCCCAGTGGGCGCTGTTCTGGGGGAACGGGCGCGGGCTCCACGCTGGAGTCCGGATCCCCAC... | CCTGGTCATGCGCTGAGGGATCTCCTCCACTCGGGGGGCCTTCGGGGCTTCGGCCGTGGGTTTTGGTTCTGCGGCTTCCGGCTGGATGCCGCCAGGAGGGCCTTCGGCTGGGGCGGCGGCACGGGAGGCCTCAGTGTCGTCCTCGGGGCCGGCACCGTCTGCGGCCTGAGCTTGTGCCACAGTGTTCGGGGCGGGGCCGTCAGGGGCACAGAGGGACGCGGCGGGGGGGCCTTCAGCCTCAGCCCCCTGGTCTCCGCTCCCCAGTGGGCGCTGTTCTGGGGGAACGGGCGCGGGCTCCACGCTGGAGTCCGGATCCCCAC... | pathogenic | 258,598 |
Chromosome 16, position 89282043, gene ANKRD11 (ankyrin repeat domain containing 11): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTACGGTGGAAACATCCCCACCGTTTATGACCCCGGGGGCCCCTGGAGGCATCTCTTCTGGAGGAGCAAGACTTTCTTCCACGGGTTCCGCTTCACCATCTGCGGCATCTTTAGTCTGCAGGGGAAGCTCCGGCAGGGAGAAGGGCCCCAGGTCCAGGTCGTCCTCGGGGCCGGCGAAGGCGTCCGCCCAGGGCACCGGCTCCACCTGGCCGAGGTGAGACAGGCCGCGGCTGCCGTCCAGGAAGCTATTTTCCAGGGGCCCCAGAGCCTCCACCTGAGCCACAGCGGCTACACAGGCGGGCTCGGGGGCCACGTCCAGC... | CTACGGTGGAAACATCCCCACCGTTTATGACCCCGGGGGCCCCTGGAGGCATCTCTTCTGGAGGAGCAAGACTTTCTTCCACGGGTTCCGCTTCACCATCTGCGGCATCTTTAGTCTGCAGGGGAAGCTCCGGCAGGGAGAAGGGCCCCAGGTCCAGGTCGTCCTCGGGGCCGGCGAAGGCGTCCGCCCAGGGCACCGGCTCCACCTGGCCGAGGTGAGACAGGCCGCGGCTGCCGTCCAGGAAGCTATTTTCCAGGGGCCCCAGAGCCTCCACCTGAGCCACAGCGGCTACACAGGCGGGCTCGGGGGCCACGTCCAGC... | benign | 258,616 |
Determine whether the variant at chromosome 16, position 89282051, in gene ANKRD11 (ankyrin repeat domain containing 11) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['KBG_syndrome'] | GAAACATCCCCACCGTTTATGACCCCGGGGGCCCCTGGAGGCATCTCTTCTGGAGGAGCAAGACTTTCTTCCACGGGTTCCGCTTCACCATCTGCGGCATCTTTAGTCTGCAGGGGAAGCTCCGGCAGGGAGAAGGGCCCCAGGTCCAGGTCGTCCTCGGGGCCGGCGAAGGCGTCCGCCCAGGGCACCGGCTCCACCTGGCCGAGGTGAGACAGGCCGCGGCTGCCGTCCAGGAAGCTATTTTCCAGGGGCCCCAGAGCCTCCACCTGAGCCACAGCGGCTACACAGGCGGGCTCGGGGGCCACGTCCAGCGGGGCTTC... | GAAACATCCCCACCGTTTATGACCCCGGGGGCCCCTGGAGGCATCTCTTCTGGAGGAGCAAGACTTTCTTCCACGGGTTCCGCTTCACCATCTGCGGCATCTTTAGTCTGCAGGGGAAGCTCCGGCAGGGAGAAGGGCCCCAGGTCCAGGTCGTCCTCGGGGCCGGCGAAGGCGTCCGCCCAGGGCACCGGCTCCACCTGGCCGAGGTGAGACAGGCCGCGGCTGCCGTCCAGGAAGCTATTTTCCAGGGGCCCCAGAGCCTCCACCTGAGCCACAGCGGCTACACAGGCGGGCTCGGGGGCCACGTCCAGCGGGGCTTC... | pathogenic | 258,617 |
Mutation found at chromosome 16 position 89282144, gene ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['KBG_syndrome'] | GCGGCATCTTTAGTCTGCAGGGGAAGCTCCGGCAGGGAGAAGGGCCCCAGGTCCAGGTCGTCCTCGGGGCCGGCGAAGGCGTCCGCCCAGGGCACCGGCTCCACCTGGCCGAGGTGAGACAGGCCGCGGCTGCCGTCCAGGAAGCTATTTTCCAGGGGCCCCAGAGCCTCCACCTGAGCCACAGCGGCTACACAGGCGGGCTCGGGGGCCACGTCCAGCGGGGCTTCCGGAAGTGACTTGCAGTTGCTGAAGAAGGACTCCAGCCCGGAGGGAGGGGCGTAGGGAGCCGCCTCTGAGGTGGAGATGGCGGCGGGGACGGC... | GCGGCATCTTTAGTCTGCAGGGGAAGCTCCGGCAGGGAGAAGGGCCCCAGGTCCAGGTCGTCCTCGGGGCCGGCGAAGGCGTCCGCCCAGGGCACCGGCTCCACCTGGCCGAGGTGAGACAGGCCGCGGCTGCCGTCCAGGAAGCTATTTTCCAGGGGCCCCAGAGCCTCCACCTGAGCCACAGCGGCTACACAGGCGGGCTCGGGGGCCACGTCCAGCGGGGCTTCCGGAAGTGACTTGCAGTTGCTGAAGAAGGACTCCAGCCCGGAGGGAGGGGCGTAGGGAGCCGCCTCTGAGGTGGAGATGGCGGCGGGGACGGC... | pathogenic | 258,625 |
Chromosome 16, position 89282151, gene ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'KBG_syndrome'] | CTTTAGTCTGCAGGGGAAGCTCCGGCAGGGAGAAGGGCCCCAGGTCCAGGTCGTCCTCGGGGCCGGCGAAGGCGTCCGCCCAGGGCACCGGCTCCACCTGGCCGAGGTGAGACAGGCCGCGGCTGCCGTCCAGGAAGCTATTTTCCAGGGGCCCCAGAGCCTCCACCTGAGCCACAGCGGCTACACAGGCGGGCTCGGGGGCCACGTCCAGCGGGGCTTCCGGAAGTGACTTGCAGTTGCTGAAGAAGGACTCCAGCCCGGAGGGAGGGGCGTAGGGAGCCGCCTCTGAGGTGGAGATGGCGGCGGGGACGGCGTCCACT... | CTTTAGTCTGCAGGGGAAGCTCCGGCAGGGAGAAGGGCCCCAGGTCCAGGTCGTCCTCGGGGCCGGCGAAGGCGTCCGCCCAGGGCACCGGCTCCACCTGGCCGAGGTGAGACAGGCCGCGGCTGCCGTCCAGGAAGCTATTTTCCAGGGGCCCCAGAGCCTCCACCTGAGCCACAGCGGCTACACAGGCGGGCTCGGGGGCCACGTCCAGCGGGGCTTCCGGAAGTGACTTGCAGTTGCTGAAGAAGGACTCCAGCCCGGAGGGAGGGGCGTAGGGAGCCGCCTCTGAGGTGGAGATGGCGGCGGGGACGGCGTCCACT... | pathogenic | 258,628 |
Variant chromosome 16, position 89282157, gene ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic? Disease(s)? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability', 'KBG_syndrome'] | TCTGCAGGGGAAGCTCCGGCAGGGAGAAGGGCCCCAGGTCCAGGTCGTCCTCGGGGCCGGCGAAGGCGTCCGCCCAGGGCACCGGCTCCACCTGGCCGAGGTGAGACAGGCCGCGGCTGCCGTCCAGGAAGCTATTTTCCAGGGGCCCCAGAGCCTCCACCTGAGCCACAGCGGCTACACAGGCGGGCTCGGGGGCCACGTCCAGCGGGGCTTCCGGAAGTGACTTGCAGTTGCTGAAGAAGGACTCCAGCCCGGAGGGAGGGGCGTAGGGAGCCGCCTCTGAGGTGGAGATGGCGGCGGGGACGGCGTCCACTCCGTCC... | TCTGCAGGGGAAGCTCCGGCAGGGAGAAGGGCCCCAGGTCCAGGTCGTCCTCGGGGCCGGCGAAGGCGTCCGCCCAGGGCACCGGCTCCACCTGGCCGAGGTGAGACAGGCCGCGGCTGCCGTCCAGGAAGCTATTTTCCAGGGGCCCCAGAGCCTCCACCTGAGCCACAGCGGCTACACAGGCGGGCTCGGGGGCCACGTCCAGCGGGGCTTCCGGAAGTGACTTGCAGTTGCTGAAGAAGGACTCCAGCCCGGAGGGAGGGGCGTAGGGAGCCGCCTCTGAGGTGGAGATGGCGGCGGGGACGGCGTCCACTCCGTCC... | pathogenic | 258,629 |
A genetic variant on chromosome 16, position 89282170, affects the gene ANKRD11 (ankyrin repeat domain containing 11). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['KBG_syndrome'] | CTCCGGCAGGGAGAAGGGCCCCAGGTCCAGGTCGTCCTCGGGGCCGGCGAAGGCGTCCGCCCAGGGCACCGGCTCCACCTGGCCGAGGTGAGACAGGCCGCGGCTGCCGTCCAGGAAGCTATTTTCCAGGGGCCCCAGAGCCTCCACCTGAGCCACAGCGGCTACACAGGCGGGCTCGGGGGCCACGTCCAGCGGGGCTTCCGGAAGTGACTTGCAGTTGCTGAAGAAGGACTCCAGCCCGGAGGGAGGGGCGTAGGGAGCCGCCTCTGAGGTGGAGATGGCGGCGGGGACGGCGTCCACTCCGTCCTTGACGTCCTCCA... | CTCCGGCAGGGAGAAGGGCCCCAGGTCCAGGTCGTCCTCGGGGCCGGCGAAGGCGTCCGCCCAGGGCACCGGCTCCACCTGGCCGAGGTGAGACAGGCCGCGGCTGCCGTCCAGGAAGCTATTTTCCAGGGGCCCCAGAGCCTCCACCTGAGCCACAGCGGCTACACAGGCGGGCTCGGGGGCCACGTCCAGCGGGGCTTCCGGAAGTGACTTGCAGTTGCTGAAGAAGGACTCCAGCCCGGAGGGAGGGGCGTAGGGAGCCGCCTCTGAGGTGGAGATGGCGGCGGGGACGGCGTCCACTCCGTCCTTGACGTCCTCCA... | pathogenic | 258,631 |
Determine if the mutation at chromosome 16, position 89282433 in gene ANKRD11 (ankyrin repeat domain containing 11) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['KBG_syndrome'] | CCTCTGAGGTGGAGATGGCGGCGGGGACGGCGTCCACTCCGTCCTTGACGTCCTCCAGCCCCGGCTCAGCGACGGGCAGAGCGTACGGGGCAGGAGAGGCGGGAGGGGCGGGGTACGGCGCCTCCGAGGCGCTGAAGGGCCCTGGGGCGGCAGAGTGGAGGGGGTCCGCGGGGCAGAAACGCTTTGGGGACTCGGGGAATCTCTGTGGAGACTTCAGCAGGAGGTCCGAGCCCACAGGCCAGCTCACAGGGTTTTCAGAGGTGCCCCCGATCAGGCTAGAGGCAAGCGCCTGCTCGGAGGGGTGGGCCCACTCAACGGGC... | CCTCTGAGGTGGAGATGGCGGCGGGGACGGCGTCCACTCCGTCCTTGACGTCCTCCAGCCCCGGCTCAGCGACGGGCAGAGCGTACGGGGCAGGAGAGGCGGGAGGGGCGGGGTACGGCGCCTCCGAGGCGCTGAAGGGCCCTGGGGCGGCAGAGTGGAGGGGGTCCGCGGGGCAGAAACGCTTTGGGGACTCGGGGAATCTCTGTGGAGACTTCAGCAGGAGGTCCGAGCCCACAGGCCAGCTCACAGGGTTTTCAGAGGTGCCCCCGATCAGGCTAGAGGCAAGCGCCTGCTCGGAGGGGTGGGCCCACTCAACGGGC... | pathogenic | 258,643 |
Gene mutation in ANKRD11 (ankyrin repeat domain containing 11) at chromosome 16, position 89282650—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CAGGAGGTCCGAGCCCACAGGCCAGCTCACAGGGTTTTCAGAGGTGCCCCCGATCAGGCTAGAGGCAAGCGCCTGCTCGGAGGGGTGGGCCCACTCAACGGGCTCCTCGGTGATGACGGCGCTGAAGGGACCCTCGTCCAGCGGCTCCAGGTAGCTGGGCTCCGGGGGGATGATGGCGGCCGTCGCCTGCTGGTCCTCGGAGGTGTCCAGGTCCGGGGGAAGGGCCCCTTCGAGGGAAGGAACCAGCAGCTCGGCTCTGGGGGAAGGGGAAGGTTTTGCTTGTAAACTTGAGAAGACGCCCTCTGGAGACGGGGTGACAG... | CAGGAGGTCCGAGCCCACAGGCCAGCTCACAGGGTTTTCAGAGGTGCCCCCGATCAGGCTAGAGGCAAGCGCCTGCTCGGAGGGGTGGGCCCACTCAACGGGCTCCTCGGTGATGACGGCGCTGAAGGGACCCTCGTCCAGCGGCTCCAGGTAGCTGGGCTCCGGGGGGATGATGGCGGCCGTCGCCTGCTGGTCCTCGGAGGTGTCCAGGTCCGGGGGAAGGGCCCCTTCGAGGGAAGGAACCAGCAGCTCGGCTCTGGGGGAAGGGGAAGGTTTTGCTTGTAAACTTGAGAAGACGCCCTCTGGAGACGGGGTGACAG... | benign | 258,651 |
Is the chromosome 16, position 89282706 variant in ANKRD11 (ankyrin repeat domain containing 11) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['KBG_syndrome'] | GGCTAGAGGCAAGCGCCTGCTCGGAGGGGTGGGCCCACTCAACGGGCTCCTCGGTGATGACGGCGCTGAAGGGACCCTCGTCCAGCGGCTCCAGGTAGCTGGGCTCCGGGGGGATGATGGCGGCCGTCGCCTGCTGGTCCTCGGAGGTGTCCAGGTCCGGGGGAAGGGCCCCTTCGAGGGAAGGAACCAGCAGCTCGGCTCTGGGGGAAGGGGAAGGTTTTGCTTGTAAACTTGAGAAGACGCCCTCTGGAGACGGGGTGACAGTGACAACGGCAGCCGGTGGGCAGTGCAAAGCGTCGACTTTGGGCGACGGGAGGCCA... | GGCTAGAGGCAAGCGCCTGCTCGGAGGGGTGGGCCCACTCAACGGGCTCCTCGGTGATGACGGCGCTGAAGGGACCCTCGTCCAGCGGCTCCAGGTAGCTGGGCTCCGGGGGGATGATGGCGGCCGTCGCCTGCTGGTCCTCGGAGGTGTCCAGGTCCGGGGGAAGGGCCCCTTCGAGGGAAGGAACCAGCAGCTCGGCTCTGGGGGAAGGGGAAGGTTTTGCTTGTAAACTTGAGAAGACGCCCTCTGGAGACGGGGTGACAGTGACAACGGCAGCCGGTGGGCAGTGCAAAGCGTCGACTTTGGGCGACGGGAGGCCA... | pathogenic | 258,654 |
Regarding the variant at chromosome 16 and position 89282753, affecting gene ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['KBG_syndrome'] | TCCTCGGTGATGACGGCGCTGAAGGGACCCTCGTCCAGCGGCTCCAGGTAGCTGGGCTCCGGGGGGATGATGGCGGCCGTCGCCTGCTGGTCCTCGGAGGTGTCCAGGTCCGGGGGAAGGGCCCCTTCGAGGGAAGGAACCAGCAGCTCGGCTCTGGGGGAAGGGGAAGGTTTTGCTTGTAAACTTGAGAAGACGCCCTCTGGAGACGGGGTGACAGTGACAACGGCAGCCGGTGGGCAGTGCAAAGCGTCGACTTTGGGCGACGGGAGGCCATAGTCTGGGGAGTAGTACCCTGGCGACAAGCAGGCAAACTTCTCCGC... | TCCTCGGTGATGACGGCGCTGAAGGGACCCTCGTCCAGCGGCTCCAGGTAGCTGGGCTCCGGGGGGATGATGGCGGCCGTCGCCTGCTGGTCCTCGGAGGTGTCCAGGTCCGGGGGAAGGGCCCCTTCGAGGGAAGGAACCAGCAGCTCGGCTCTGGGGGAAGGGGAAGGTTTTGCTTGTAAACTTGAGAAGACGCCCTCTGGAGACGGGGTGACAGTGACAACGGCAGCCGGTGGGCAGTGCAAAGCGTCGACTTTGGGCGACGGGAGGCCATAGTCTGGGGAGTAGTACCCTGGCGACAAGCAGGCAAACTTCTCCGC... | pathogenic | 258,658 |
Does the genetic variant at chromosome 16, position 89282770, impacting gene ANKRD11 (ankyrin repeat domain containing 11), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'KBG_syndrome', 'Rare_genetic_intellectual_disability'] | GCTGAAGGGACCCTCGTCCAGCGGCTCCAGGTAGCTGGGCTCCGGGGGGATGATGGCGGCCGTCGCCTGCTGGTCCTCGGAGGTGTCCAGGTCCGGGGGAAGGGCCCCTTCGAGGGAAGGAACCAGCAGCTCGGCTCTGGGGGAAGGGGAAGGTTTTGCTTGTAAACTTGAGAAGACGCCCTCTGGAGACGGGGTGACAGTGACAACGGCAGCCGGTGGGCAGTGCAAAGCGTCGACTTTGGGCGACGGGAGGCCATAGTCTGGGGAGTAGTACCCTGGCGACAAGCAGGCAAACTTCTCCGCGGGAACCGGGGGCAGGG... | GCTGAAGGGACCCTCGTCCAGCGGCTCCAGGTAGCTGGGCTCCGGGGGGATGATGGCGGCCGTCGCCTGCTGGTCCTCGGAGGTGTCCAGGTCCGGGGGAAGGGCCCCTTCGAGGGAAGGAACCAGCAGCTCGGCTCTGGGGGAAGGGGAAGGTTTTGCTTGTAAACTTGAGAAGACGCCCTCTGGAGACGGGGTGACAGTGACAACGGCAGCCGGTGGGCAGTGCAAAGCGTCGACTTTGGGCGACGGGAGGCCATAGTCTGGGGAGTAGTACCCTGGCGACAAGCAGGCAAACTTCTCCGCGGGAACCGGGGGCAGGG... | pathogenic | 258,660 |
A genetic alteration at chromosome 16, position 89282772, in gene ANKRD11 (ankyrin repeat domain containing 11)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['KBG_syndrome'] | TGAAGGGACCCTCGTCCAGCGGCTCCAGGTAGCTGGGCTCCGGGGGGATGATGGCGGCCGTCGCCTGCTGGTCCTCGGAGGTGTCCAGGTCCGGGGGAAGGGCCCCTTCGAGGGAAGGAACCAGCAGCTCGGCTCTGGGGGAAGGGGAAGGTTTTGCTTGTAAACTTGAGAAGACGCCCTCTGGAGACGGGGTGACAGTGACAACGGCAGCCGGTGGGCAGTGCAAAGCGTCGACTTTGGGCGACGGGAGGCCATAGTCTGGGGAGTAGTACCCTGGCGACAAGCAGGCAAACTTCTCCGCGGGAACCGGGGGCAGGGGC... | TGAAGGGACCCTCGTCCAGCGGCTCCAGGTAGCTGGGCTCCGGGGGGATGATGGCGGCCGTCGCCTGCTGGTCCTCGGAGGTGTCCAGGTCCGGGGGAAGGGCCCCTTCGAGGGAAGGAACCAGCAGCTCGGCTCTGGGGGAAGGGGAAGGTTTTGCTTGTAAACTTGAGAAGACGCCCTCTGGAGACGGGGTGACAGTGACAACGGCAGCCGGTGGGCAGTGCAAAGCGTCGACTTTGGGCGACGGGAGGCCATAGTCTGGGGAGTAGTACCCTGGCGACAAGCAGGCAAACTTCTCCGCGGGAACCGGGGGCAGGGGC... | pathogenic | 258,661 |
Mutation at chromosome 16, position 89282834, within ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['ANKRD11-related_disorder', 'KBG_syndrome'] | GCCTGCTGGTCCTCGGAGGTGTCCAGGTCCGGGGGAAGGGCCCCTTCGAGGGAAGGAACCAGCAGCTCGGCTCTGGGGGAAGGGGAAGGTTTTGCTTGTAAACTTGAGAAGACGCCCTCTGGAGACGGGGTGACAGTGACAACGGCAGCCGGTGGGCAGTGCAAAGCGTCGACTTTGGGCGACGGGAGGCCATAGTCTGGGGAGTAGTACCCTGGCGACAAGCAGGCAAACTTCTCCGCGGGAACCGGGGGCAGGGGCGCCCTGTCTTCCATCGAGGGTGGCATGGGAGAGTCGTAGCTGGAGGCAGCAGGAACGCTCTG... | GCCTGCTGGTCCTCGGAGGTGTCCAGGTCCGGGGGAAGGGCCCCTTCGAGGGAAGGAACCAGCAGCTCGGCTCTGGGGGAAGGGGAAGGTTTTGCTTGTAAACTTGAGAAGACGCCCTCTGGAGACGGGGTGACAGTGACAACGGCAGCCGGTGGGCAGTGCAAAGCGTCGACTTTGGGCGACGGGAGGCCATAGTCTGGGGAGTAGTACCCTGGCGACAAGCAGGCAAACTTCTCCGCGGGAACCGGGGGCAGGGGCGCCCTGTCTTCCATCGAGGGTGGCATGGGAGAGTCGTAGCTGGAGGCAGCAGGAACGCTCTG... | pathogenic | 258,664 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 89282836, gene ANKRD11 (ankyrin repeat domain containing 11). What disease(s) is it linked to if pathogenic? | pathogenic; ['Inborn_genetic_diseases'] | CTGCTGGTCCTCGGAGGTGTCCAGGTCCGGGGGAAGGGCCCCTTCGAGGGAAGGAACCAGCAGCTCGGCTCTGGGGGAAGGGGAAGGTTTTGCTTGTAAACTTGAGAAGACGCCCTCTGGAGACGGGGTGACAGTGACAACGGCAGCCGGTGGGCAGTGCAAAGCGTCGACTTTGGGCGACGGGAGGCCATAGTCTGGGGAGTAGTACCCTGGCGACAAGCAGGCAAACTTCTCCGCGGGAACCGGGGGCAGGGGCGCCCTGTCTTCCATCGAGGGTGGCATGGGAGAGTCGTAGCTGGAGGCAGCAGGAACGCTCTGCT... | CTGCTGGTCCTCGGAGGTGTCCAGGTCCGGGGGAAGGGCCCCTTCGAGGGAAGGAACCAGCAGCTCGGCTCTGGGGGAAGGGGAAGGTTTTGCTTGTAAACTTGAGAAGACGCCCTCTGGAGACGGGGTGACAGTGACAACGGCAGCCGGTGGGCAGTGCAAAGCGTCGACTTTGGGCGACGGGAGGCCATAGTCTGGGGAGTAGTACCCTGGCGACAAGCAGGCAAACTTCTCCGCGGGAACCGGGGGCAGGGGCGCCCTGTCTTCCATCGAGGGTGGCATGGGAGAGTCGTAGCTGGAGGCAGCAGGAACGCTCTGCT... | pathogenic | 258,665 |
Variant in ANKRD11 (ankyrin repeat domain containing 11), chromosome 16, position 89282844—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['KBG_syndrome'] | CCTCGGAGGTGTCCAGGTCCGGGGGAAGGGCCCCTTCGAGGGAAGGAACCAGCAGCTCGGCTCTGGGGGAAGGGGAAGGTTTTGCTTGTAAACTTGAGAAGACGCCCTCTGGAGACGGGGTGACAGTGACAACGGCAGCCGGTGGGCAGTGCAAAGCGTCGACTTTGGGCGACGGGAGGCCATAGTCTGGGGAGTAGTACCCTGGCGACAAGCAGGCAAACTTCTCCGCGGGAACCGGGGGCAGGGGCGCCCTGTCTTCCATCGAGGGTGGCATGGGAGAGTCGTAGCTGGAGGCAGCAGGAACGCTCTGCTGCCTGAAG... | CCTCGGAGGTGTCCAGGTCCGGGGGAAGGGCCCCTTCGAGGGAAGGAACCAGCAGCTCGGCTCTGGGGGAAGGGGAAGGTTTTGCTTGTAAACTTGAGAAGACGCCCTCTGGAGACGGGGTGACAGTGACAACGGCAGCCGGTGGGCAGTGCAAAGCGTCGACTTTGGGCGACGGGAGGCCATAGTCTGGGGAGTAGTACCCTGGCGACAAGCAGGCAAACTTCTCCGCGGGAACCGGGGGCAGGGGCGCCCTGTCTTCCATCGAGGGTGGCATGGGAGAGTCGTAGCTGGAGGCAGCAGGAACGCTCTGCTGCCTGAAG... | pathogenic | 258,666 |
Mutation at chromosome 16, position 89282908, within ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['KBG_syndrome'] | GGGGGAAGGGGAAGGTTTTGCTTGTAAACTTGAGAAGACGCCCTCTGGAGACGGGGTGACAGTGACAACGGCAGCCGGTGGGCAGTGCAAAGCGTCGACTTTGGGCGACGGGAGGCCATAGTCTGGGGAGTAGTACCCTGGCGACAAGCAGGCAAACTTCTCCGCGGGAACCGGGGGCAGGGGCGCCCTGTCTTCCATCGAGGGTGGCATGGGAGAGTCGTAGCTGGAGGCAGCAGGAACGCTCTGCTGCCTGAAGAGCTTGTCTCCGACGCTGAATTCTTCCTCGGGGGTCCTCCTAATGTCGACAGAGACCGAGCGGT... | GGGGGAAGGGGAAGGTTTTGCTTGTAAACTTGAGAAGACGCCCTCTGGAGACGGGGTGACAGTGACAACGGCAGCCGGTGGGCAGTGCAAAGCGTCGACTTTGGGCGACGGGAGGCCATAGTCTGGGGAGTAGTACCCTGGCGACAAGCAGGCAAACTTCTCCGCGGGAACCGGGGGCAGGGGCGCCCTGTCTTCCATCGAGGGTGGCATGGGAGAGTCGTAGCTGGAGGCAGCAGGAACGCTCTGCTGCCTGAAGAGCTTGTCTCCGACGCTGAATTCTTCCTCGGGGGTCCTCCTAATGTCGACAGAGACCGAGCGGT... | pathogenic | 258,669 |
Regarding the variant at chromosome 16 and position 89282947, affecting gene ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Global_developmental_delay'] | GCCCTCTGGAGACGGGGTGACAGTGACAACGGCAGCCGGTGGGCAGTGCAAAGCGTCGACTTTGGGCGACGGGAGGCCATAGTCTGGGGAGTAGTACCCTGGCGACAAGCAGGCAAACTTCTCCGCGGGAACCGGGGGCAGGGGCGCCCTGTCTTCCATCGAGGGTGGCATGGGAGAGTCGTAGCTGGAGGCAGCAGGAACGCTCTGCTGCCTGAAGAGCTTGTCTCCGACGCTGAATTCTTCCTCGGGGGTCCTCCTAATGTCGACAGAGACCGAGCGGTAAAGGTTTGTGGAGAGAGGCCTGGCAGGAGCCTGGCTGG... | GCCCTCTGGAGACGGGGTGACAGTGACAACGGCAGCCGGTGGGCAGTGCAAAGCGTCGACTTTGGGCGACGGGAGGCCATAGTCTGGGGAGTAGTACCCTGGCGACAAGCAGGCAAACTTCTCCGCGGGAACCGGGGGCAGGGGCGCCCTGTCTTCCATCGAGGGTGGCATGGGAGAGTCGTAGCTGGAGGCAGCAGGAACGCTCTGCTGCCTGAAGAGCTTGTCTCCGACGCTGAATTCTTCCTCGGGGGTCCTCCTAATGTCGACAGAGACCGAGCGGTAAAGGTTTGTGGAGAGAGGCCTGGCAGGAGCCTGGCTGG... | pathogenic | 258,671 |
Regarding the variant at chromosome 16 and position 89283169, affecting gene ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['KBG_syndrome', 'Rare_genetic_intellectual_disability'] | GTCTCCGACGCTGAATTCTTCCTCGGGGGTCCTCCTAATGTCGACAGAGACCGAGCGGTAAAGGTTTGTGGAGAGAGGCCTGGCAGGAGCCTGGCTGGCGTTTTCCGAAAGCCCACTTGAAGCCACGGAGAACCTGTCGAAAAAGGAGGGGGAGCAGGCGCTGGTGGGAGCGGTGGGCACGGGCGTGGAGTGCTGCGAGTCGGCGCAGTCGAACACGAGGTCCGCGTAGTCATCGGCGCTGCAGGACGGGGTCCTGGGCGTGTGCATCACCTCCTCGTAGCTGGGGCAGGATAGCACCGACGTAGGGGTGGGCACGCCAG... | GTCTCCGACGCTGAATTCTTCCTCGGGGGTCCTCCTAATGTCGACAGAGACCGAGCGGTAAAGGTTTGTGGAGAGAGGCCTGGCAGGAGCCTGGCTGGCGTTTTCCGAAAGCCCACTTGAAGCCACGGAGAACCTGTCGAAAAAGGAGGGGGAGCAGGCGCTGGTGGGAGCGGTGGGCACGGGCGTGGAGTGCTGCGAGTCGGCGCAGTCGAACACGAGGTCCGCGTAGTCATCGGCGCTGCAGGACGGGGTCCTGGGCGTGTGCATCACCTCCTCGTAGCTGGGGCAGGATAGCACCGACGTAGGGGTGGGCACGCCAG... | pathogenic | 258,684 |
Chromosome 16, position 89283219, gene ANKRD11 (ankyrin repeat domain containing 11): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['KBG_syndrome'] | CCGAGCGGTAAAGGTTTGTGGAGAGAGGCCTGGCAGGAGCCTGGCTGGCGTTTTCCGAAAGCCCACTTGAAGCCACGGAGAACCTGTCGAAAAAGGAGGGGGAGCAGGCGCTGGTGGGAGCGGTGGGCACGGGCGTGGAGTGCTGCGAGTCGGCGCAGTCGAACACGAGGTCCGCGTAGTCATCGGCGCTGCAGGACGGGGTCCTGGGCGTGTGCATCACCTCCTCGTAGCTGGGGCAGGATAGCACCGACGTAGGGGTGGGCACGCCAGTGGGCCGGCTCTGGTCAGGCCTGGGGGACGCAGGCAGGACCTCTTTCATG... | CCGAGCGGTAAAGGTTTGTGGAGAGAGGCCTGGCAGGAGCCTGGCTGGCGTTTTCCGAAAGCCCACTTGAAGCCACGGAGAACCTGTCGAAAAAGGAGGGGGAGCAGGCGCTGGTGGGAGCGGTGGGCACGGGCGTGGAGTGCTGCGAGTCGGCGCAGTCGAACACGAGGTCCGCGTAGTCATCGGCGCTGCAGGACGGGGTCCTGGGCGTGTGCATCACCTCCTCGTAGCTGGGGCAGGATAGCACCGACGTAGGGGTGGGCACGCCAGTGGGCCGGCTCTGGTCAGGCCTGGGGGACGCAGGCAGGACCTCTTTCATG... | pathogenic | 258,686 |
The genetic variant at chromosome 16, position 89283232, affecting gene ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['ANKRD11-related_disorder', 'Abnormality_of_the_nervous_system', 'KBG_syndrome'] | GTTTGTGGAGAGAGGCCTGGCAGGAGCCTGGCTGGCGTTTTCCGAAAGCCCACTTGAAGCCACGGAGAACCTGTCGAAAAAGGAGGGGGAGCAGGCGCTGGTGGGAGCGGTGGGCACGGGCGTGGAGTGCTGCGAGTCGGCGCAGTCGAACACGAGGTCCGCGTAGTCATCGGCGCTGCAGGACGGGGTCCTGGGCGTGTGCATCACCTCCTCGTAGCTGGGGCAGGATAGCACCGACGTAGGGGTGGGCACGCCAGTGGGCCGGCTCTGGTCAGGCCTGGGGGACGCAGGCAGGACCTCTTTCATGTGAGGGCCTGCCA... | GTTTGTGGAGAGAGGCCTGGCAGGAGCCTGGCTGGCGTTTTCCGAAAGCCCACTTGAAGCCACGGAGAACCTGTCGAAAAAGGAGGGGGAGCAGGCGCTGGTGGGAGCGGTGGGCACGGGCGTGGAGTGCTGCGAGTCGGCGCAGTCGAACACGAGGTCCGCGTAGTCATCGGCGCTGCAGGACGGGGTCCTGGGCGTGTGCATCACCTCCTCGTAGCTGGGGCAGGATAGCACCGACGTAGGGGTGGGCACGCCAGTGGGCCGGCTCTGGTCAGGCCTGGGGGACGCAGGCAGGACCTCTTTCATGTGAGGGCCTGCCA... | pathogenic | 258,687 |
Is the genetic change at chromosome 16, position 89283314, within gene ANKRD11 (ankyrin repeat domain containing 11) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['KBG_syndrome'] | GAGGGGGAGCAGGCGCTGGTGGGAGCGGTGGGCACGGGCGTGGAGTGCTGCGAGTCGGCGCAGTCGAACACGAGGTCCGCGTAGTCATCGGCGCTGCAGGACGGGGTCCTGGGCGTGTGCATCACCTCCTCGTAGCTGGGGCAGGATAGCACCGACGTAGGGGTGGGCACGCCAGTGGGCCGGCTCTGGTCAGGCCTGGGGGACGCAGGCAGGACCTCTTTCATGTGAGGGCCTGCCAGCCAGTCTTTGGAGTCTGCACCTGATGCTGGGTGTAGCTTATTTTCCGCGGCAGGTGGAATAGGAGTCGACTCTTTGAGCTT... | GAGGGGGAGCAGGCGCTGGTGGGAGCGGTGGGCACGGGCGTGGAGTGCTGCGAGTCGGCGCAGTCGAACACGAGGTCCGCGTAGTCATCGGCGCTGCAGGACGGGGTCCTGGGCGTGTGCATCACCTCCTCGTAGCTGGGGCAGGATAGCACCGACGTAGGGGTGGGCACGCCAGTGGGCCGGCTCTGGTCAGGCCTGGGGGACGCAGGCAGGACCTCTTTCATGTGAGGGCCTGCCAGCCAGTCTTTGGAGTCTGCACCTGATGCTGGGTGTAGCTTATTTTCCGCGGCAGGTGGAATAGGAGTCGACTCTTTGAGCTT... | pathogenic | 258,689 |
Does the variant on chromosome 16 at location 89283342 affecting gene ANKRD11 (ankyrin repeat domain containing 11) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['KBG_syndrome'] | TGGGCACGGGCGTGGAGTGCTGCGAGTCGGCGCAGTCGAACACGAGGTCCGCGTAGTCATCGGCGCTGCAGGACGGGGTCCTGGGCGTGTGCATCACCTCCTCGTAGCTGGGGCAGGATAGCACCGACGTAGGGGTGGGCACGCCAGTGGGCCGGCTCTGGTCAGGCCTGGGGGACGCAGGCAGGACCTCTTTCATGTGAGGGCCTGCCAGCCAGTCTTTGGAGTCTGCACCTGATGCTGGGTGTAGCTTATTTTCCGCGGCAGGTGGAATAGGAGTCGACTCTTTGAGCTTTTTGTCTTTAAATGGAGGGTCCAGCCCC... | TGGGCACGGGCGTGGAGTGCTGCGAGTCGGCGCAGTCGAACACGAGGTCCGCGTAGTCATCGGCGCTGCAGGACGGGGTCCTGGGCGTGTGCATCACCTCCTCGTAGCTGGGGCAGGATAGCACCGACGTAGGGGTGGGCACGCCAGTGGGCCGGCTCTGGTCAGGCCTGGGGGACGCAGGCAGGACCTCTTTCATGTGAGGGCCTGCCAGCCAGTCTTTGGAGTCTGCACCTGATGCTGGGTGTAGCTTATTTTCCGCGGCAGGTGGAATAGGAGTCGACTCTTTGAGCTTTTTGTCTTTAAATGGAGGGTCCAGCCCC... | pathogenic | 258,690 |
Variant in gene ANKRD11 (ankyrin repeat domain containing 11), located at chromosome 16 position 89283482: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic | ACGCCAGTGGGCCGGCTCTGGTCAGGCCTGGGGGACGCAGGCAGGACCTCTTTCATGTGAGGGCCTGCCAGCCAGTCTTTGGAGTCTGCACCTGATGCTGGGTGTAGCTTATTTTCCGCGGCAGGTGGAATAGGAGTCGACTCTTTGAGCTTTTTGTCTTTAAATGGAGGGTCCAGCCCCGGCGGTTTCTTAGCAGGAATGTCCAGACCCTTCTTCCGCCCGTCGTCTGCCGGCTTCGCCTTCTCCTTGAGCTTGGGGTCTCCGGACCGGTGCCTCAGCTTCTCCATTTGCTTCATCCTCTCCTTGTGCCGCTTGTGGCG... | ACGCCAGTGGGCCGGCTCTGGTCAGGCCTGGGGGACGCAGGCAGGACCTCTTTCATGTGAGGGCCTGCCAGCCAGTCTTTGGAGTCTGCACCTGATGCTGGGTGTAGCTTATTTTCCGCGGCAGGTGGAATAGGAGTCGACTCTTTGAGCTTTTTGTCTTTAAATGGAGGGTCCAGCCCCGGCGGTTTCTTAGCAGGAATGTCCAGACCCTTCTTCCGCCCGTCGTCTGCCGGCTTCGCCTTCTCCTTGAGCTTGGGGTCTCCGGACCGGTGCCTCAGCTTCTCCATTTGCTTCATCCTCTCCTTGTGCCGCTTGTGGCG... | pathogenic | 258,693 |
The chromosome 16, position 89283712 genetic variant in gene ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['ANKRD11-related_disorder', 'KBG_syndrome'] | CGGCTTCGCCTTCTCCTTGAGCTTGGGGTCTCCGGACCGGTGCCTCAGCTTCTCCATTTGCTTCATCCTCTCCTTGTGCCGCTTGTGGCGCTCCTCGATCTCCAGGTCCTTCTGGGACAGCATCCTCTCGAAGCTGGTCATCATCAGGTCGCCGTCCCCCAGGAGCTTCTCCCTGGGCCTGGCGTCTTTCTTGCCTGGGTCTTTGGATGGCGCTACCTTATCATTCCCGTTGCTCATCTTCACTGGGTCGCCCTTTTCTTTCTCTGCACCGTCCTTGAATTTCTCCTTCAGTTTGGCATCGCCGAGCCTCGGGCCCTCGT... | CGGCTTCGCCTTCTCCTTGAGCTTGGGGTCTCCGGACCGGTGCCTCAGCTTCTCCATTTGCTTCATCCTCTCCTTGTGCCGCTTGTGGCGCTCCTCGATCTCCAGGTCCTTCTGGGACAGCATCCTCTCGAAGCTGGTCATCATCAGGTCGCCGTCCCCCAGGAGCTTCTCCCTGGGCCTGGCGTCTTTCTTGCCTGGGTCTTTGGATGGCGCTACCTTATCATTCCCGTTGCTCATCTTCACTGGGTCGCCCTTTTCTTTCTCTGCACCGTCCTTGAATTTCTCCTTCAGTTTGGCATCGCCGAGCCTCGGGCCCTCGT... | pathogenic | 258,707 |
Is the genetic change at chromosome 16, position 89283712, within gene ANKRD11 (ankyrin repeat domain containing 11) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['KBG_syndrome'] | CGGCTTCGCCTTCTCCTTGAGCTTGGGGTCTCCGGACCGGTGCCTCAGCTTCTCCATTTGCTTCATCCTCTCCTTGTGCCGCTTGTGGCGCTCCTCGATCTCCAGGTCCTTCTGGGACAGCATCCTCTCGAAGCTGGTCATCATCAGGTCGCCGTCCCCCAGGAGCTTCTCCCTGGGCCTGGCGTCTTTCTTGCCTGGGTCTTTGGATGGCGCTACCTTATCATTCCCGTTGCTCATCTTCACTGGGTCGCCCTTTTCTTTCTCTGCACCGTCCTTGAATTTCTCCTTCAGTTTGGCATCGCCGAGCCTCGGGCCCTCGT... | CGGCTTCGCCTTCTCCTTGAGCTTGGGGTCTCCGGACCGGTGCCTCAGCTTCTCCATTTGCTTCATCCTCTCCTTGTGCCGCTTGTGGCGCTCCTCGATCTCCAGGTCCTTCTGGGACAGCATCCTCTCGAAGCTGGTCATCATCAGGTCGCCGTCCCCCAGGAGCTTCTCCCTGGGCCTGGCGTCTTTCTTGCCTGGGTCTTTGGATGGCGCTACCTTATCATTCCCGTTGCTCATCTTCACTGGGTCGCCCTTTTCTTTCTCTGCACCGTCCTTGAATTTCTCCTTCAGTTTGGCATCGCCGAGCCTCGGGCCCTCGT... | pathogenic | 258,708 |
Is the variant located on chromosome 16 at position 89283925, gene ANKRD11 (ankyrin repeat domain containing 11), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['KBG_syndrome'] | TACCTTATCATTCCCGTTGCTCATCTTCACTGGGTCGCCCTTTTCTTTCTCTGCACCGTCCTTGAATTTCTCCTTCAGTTTGGCATCGCCGAGCCTCGGGCCCTCGTCCCTGGACTTGTCTTTGAGCACGCGGGGCGGGCTGTCCTTGTCCCTGGTGGCGGGCTTCTGCTCGTCCCTGTGATGCCGCAGGAGCTCGTCCCTGTGATGCCGCAGCAGCCCATCCGCATGCCTGTCCCGGTGCCTCTCCTTCTCGTCTCTCCATTTCTCCCTGTGTTTCTCTCTCTTCTTCTTCTCTTTTAGGATGTTGATGGCACTAGATC... | TACCTTATCATTCCCGTTGCTCATCTTCACTGGGTCGCCCTTTTCTTTCTCTGCACCGTCCTTGAATTTCTCCTTCAGTTTGGCATCGCCGAGCCTCGGGCCCTCGTCCCTGGACTTGTCTTTGAGCACGCGGGGCGGGCTGTCCTTGTCCCTGGTGGCGGGCTTCTGCTCGTCCCTGTGATGCCGCAGGAGCTCGTCCCTGTGATGCCGCAGCAGCCCATCCGCATGCCTGTCCCGGTGCCTCTCCTTCTCGTCTCTCCATTTCTCCCTGTGTTTCTCTCTCTTCTTCTTCTCTTTTAGGATGTTGATGGCACTAGATC... | pathogenic | 258,713 |
Gene ANKRD11 (ankyrin repeat domain containing 11) variant at chromosome 16, position 89284087—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['KBG_syndrome'] | CTTCTGCTCGTCCCTGTGATGCCGCAGGAGCTCGTCCCTGTGATGCCGCAGCAGCCCATCCGCATGCCTGTCCCGGTGCCTCTCCTTCTCGTCTCTCCATTTCTCCCTGTGTTTCTCTCTCTTCTTCTTCTCTTTTAGGATGTTGATGGCACTAGATCCATAAGGCTTTAGTTCCTTTTCTATTTTCTTGGAAGGTTCTCTCTCGGAATCATTTTTATCTTTCTTTTCGGTAGAAAACAATTCAATGGTTTTATCTAGCTCATCTTCTATGTCAGCTTTCATGTTGTAAGAAACTCCGTAAGCATCCGCCTCCAGGAAGT... | CTTCTGCTCGTCCCTGTGATGCCGCAGGAGCTCGTCCCTGTGATGCCGCAGCAGCCCATCCGCATGCCTGTCCCGGTGCCTCTCCTTCTCGTCTCTCCATTTCTCCCTGTGTTTCTCTCTCTTCTTCTTCTCTTTTAGGATGTTGATGGCACTAGATCCATAAGGCTTTAGTTCCTTTTCTATTTTCTTGGAAGGTTCTCTCTCGGAATCATTTTTATCTTTCTTTTCGGTAGAAAACAATTCAATGGTTTTATCTAGCTCATCTTCTATGTCAGCTTTCATGTTGTAAGAAACTCCGTAAGCATCCGCCTCCAGGAAGT... | pathogenic | 258,720 |
The chromosome 16, position 89284129 genetic variant in gene ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['KBG_syndrome'] | ATGCCGCAGCAGCCCATCCGCATGCCTGTCCCGGTGCCTCTCCTTCTCGTCTCTCCATTTCTCCCTGTGTTTCTCTCTCTTCTTCTTCTCTTTTAGGATGTTGATGGCACTAGATCCATAAGGCTTTAGTTCCTTTTCTATTTTCTTGGAAGGTTCTCTCTCGGAATCATTTTTATCTTTCTTTTCGGTAGAAAACAATTCAATGGTTTTATCTAGCTCATCTTCTATGTCAGCTTTCATGTTGTAAGAAACTCCGTAAGCATCCGCCTCCAGGAAGTCCTTTTCGTACTGGCCGGAGTCCTTCCTGCTACCGCCCTCCT... | ATGCCGCAGCAGCCCATCCGCATGCCTGTCCCGGTGCCTCTCCTTCTCGTCTCTCCATTTCTCCCTGTGTTTCTCTCTCTTCTTCTTCTCTTTTAGGATGTTGATGGCACTAGATCCATAAGGCTTTAGTTCCTTTTCTATTTTCTTGGAAGGTTCTCTCTCGGAATCATTTTTATCTTTCTTTTCGGTAGAAAACAATTCAATGGTTTTATCTAGCTCATCTTCTATGTCAGCTTTCATGTTGTAAGAAACTCCGTAAGCATCCGCCTCCAGGAAGTCCTTTTCGTACTGGCCGGAGTCCTTCCTGCTACCGCCCTCCT... | pathogenic | 258,722 |
Assess the variant on chromosome 16, position 89284129, impacting ANKRD11 (ankyrin repeat domain containing 11): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['ANKRD11-related_disorder', 'Global_developmental_delay', 'Inborn_genetic_diseases', 'KBG_syndrome'] | ATGCCGCAGCAGCCCATCCGCATGCCTGTCCCGGTGCCTCTCCTTCTCGTCTCTCCATTTCTCCCTGTGTTTCTCTCTCTTCTTCTTCTCTTTTAGGATGTTGATGGCACTAGATCCATAAGGCTTTAGTTCCTTTTCTATTTTCTTGGAAGGTTCTCTCTCGGAATCATTTTTATCTTTCTTTTCGGTAGAAAACAATTCAATGGTTTTATCTAGCTCATCTTCTATGTCAGCTTTCATGTTGTAAGAAACTCCGTAAGCATCCGCCTCCAGGAAGTCCTTTTCGTACTGGCCGGAGTCCTTCCTGCTACCGCCCTCCT... | ATGCCGCAGCAGCCCATCCGCATGCCTGTCCCGGTGCCTCTCCTTCTCGTCTCTCCATTTCTCCCTGTGTTTCTCTCTCTTCTTCTTCTCTTTTAGGATGTTGATGGCACTAGATCCATAAGGCTTTAGTTCCTTTTCTATTTTCTTGGAAGGTTCTCTCTCGGAATCATTTTTATCTTTCTTTTCGGTAGAAAACAATTCAATGGTTTTATCTAGCTCATCTTCTATGTCAGCTTTCATGTTGTAAGAAACTCCGTAAGCATCCGCCTCCAGGAAGTCCTTTTCGTACTGGCCGGAGTCCTTCCTGCTACCGCCCTCCT... | pathogenic | 258,723 |
Considering the genetic mutation at chromosome 16, position 89284134, impacting ANKRD11 (ankyrin repeat domain containing 11): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['KBG_syndrome'] | GCAGCAGCCCATCCGCATGCCTGTCCCGGTGCCTCTCCTTCTCGTCTCTCCATTTCTCCCTGTGTTTCTCTCTCTTCTTCTTCTCTTTTAGGATGTTGATGGCACTAGATCCATAAGGCTTTAGTTCCTTTTCTATTTTCTTGGAAGGTTCTCTCTCGGAATCATTTTTATCTTTCTTTTCGGTAGAAAACAATTCAATGGTTTTATCTAGCTCATCTTCTATGTCAGCTTTCATGTTGTAAGAAACTCCGTAAGCATCCGCCTCCAGGAAGTCCTTTTCGTACTGGCCGGAGTCCTTCCTGCTACCGCCCTCCTTGTAA... | GCAGCAGCCCATCCGCATGCCTGTCCCGGTGCCTCTCCTTCTCGTCTCTCCATTTCTCCCTGTGTTTCTCTCTCTTCTTCTTCTCTTTTAGGATGTTGATGGCACTAGATCCATAAGGCTTTAGTTCCTTTTCTATTTTCTTGGAAGGTTCTCTCTCGGAATCATTTTTATCTTTCTTTTCGGTAGAAAACAATTCAATGGTTTTATCTAGCTCATCTTCTATGTCAGCTTTCATGTTGTAAGAAACTCCGTAAGCATCCGCCTCCAGGAAGTCCTTTTCGTACTGGCCGGAGTCCTTCCTGCTACCGCCCTCCTTGTAA... | pathogenic | 258,724 |
Evaluate the clinical significance of the mutation at chromosome 16, position 89284140 in gene ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Global_developmental_delay', 'Inborn_genetic_diseases', 'KBG_syndrome', 'Rare_genetic_intellectual_disability'] | GCCCATCCGCATGCCTGTCCCGGTGCCTCTCCTTCTCGTCTCTCCATTTCTCCCTGTGTTTCTCTCTCTTCTTCTTCTCTTTTAGGATGTTGATGGCACTAGATCCATAAGGCTTTAGTTCCTTTTCTATTTTCTTGGAAGGTTCTCTCTCGGAATCATTTTTATCTTTCTTTTCGGTAGAAAACAATTCAATGGTTTTATCTAGCTCATCTTCTATGTCAGCTTTCATGTTGTAAGAAACTCCGTAAGCATCCGCCTCCAGGAAGTCCTTTTCGTACTGGCCGGAGTCCTTCCTGCTACCGCCCTCCTTGTAATCTTCG... | GCCCATCCGCATGCCTGTCCCGGTGCCTCTCCTTCTCGTCTCTCCATTTCTCCCTGTGTTTCTCTCTCTTCTTCTTCTCTTTTAGGATGTTGATGGCACTAGATCCATAAGGCTTTAGTTCCTTTTCTATTTTCTTGGAAGGTTCTCTCTCGGAATCATTTTTATCTTTCTTTTCGGTAGAAAACAATTCAATGGTTTTATCTAGCTCATCTTCTATGTCAGCTTTCATGTTGTAAGAAACTCCGTAAGCATCCGCCTCCAGGAAGTCCTTTTCGTACTGGCCGGAGTCCTTCCTGCTACCGCCCTCCTTGTAATCTTCG... | pathogenic | 258,725 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 89284209, gene ANKRD11 (ankyrin repeat domain containing 11). What disease(s) is it linked to if pathogenic? | pathogenic; ['KBG_syndrome'] | TCTTCTTCTCTTTTAGGATGTTGATGGCACTAGATCCATAAGGCTTTAGTTCCTTTTCTATTTTCTTGGAAGGTTCTCTCTCGGAATCATTTTTATCTTTCTTTTCGGTAGAAAACAATTCAATGGTTTTATCTAGCTCATCTTCTATGTCAGCTTTCATGTTGTAAGAAACTCCGTAAGCATCCGCCTCCAGGAAGTCCTTTTCGTACTGGCCGGAGTCCTTCCTGCTACCGCCCTCCTTGTAATCTTCGCCCTTCTCTTTCTTCTCGGCCTTCTCTTTCTTGGCTCGCTCTCGGTCGTGGCTCTTCTTGGATGAAGAT... | TCTTCTTCTCTTTTAGGATGTTGATGGCACTAGATCCATAAGGCTTTAGTTCCTTTTCTATTTTCTTGGAAGGTTCTCTCTCGGAATCATTTTTATCTTTCTTTTCGGTAGAAAACAATTCAATGGTTTTATCTAGCTCATCTTCTATGTCAGCTTTCATGTTGTAAGAAACTCCGTAAGCATCCGCCTCCAGGAAGTCCTTTTCGTACTGGCCGGAGTCCTTCCTGCTACCGCCCTCCTTGTAATCTTCGCCCTTCTCTTTCTTCTCGGCCTTCTCTTTCTTGGCTCGCTCTCGGTCGTGGCTCTTCTTGGATGAAGAT... | pathogenic | 258,727 |
Variant in ANKRD11 (ankyrin repeat domain containing 11), chromosome 16, position 89284241—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Intellectual_disability', 'KBG_syndrome'] | GATCCATAAGGCTTTAGTTCCTTTTCTATTTTCTTGGAAGGTTCTCTCTCGGAATCATTTTTATCTTTCTTTTCGGTAGAAAACAATTCAATGGTTTTATCTAGCTCATCTTCTATGTCAGCTTTCATGTTGTAAGAAACTCCGTAAGCATCCGCCTCCAGGAAGTCCTTTTCGTACTGGCCGGAGTCCTTCCTGCTACCGCCCTCCTTGTAATCTTCGCCCTTCTCTTTCTTCTCGGCCTTCTCTTTCTTGGCTCGCTCTCGGTCGTGGCTCTTCTTGGATGAAGATGAGGAGTGTCTGTGCCTCTCCTTCTCTTTCAG... | GATCCATAAGGCTTTAGTTCCTTTTCTATTTTCTTGGAAGGTTCTCTCTCGGAATCATTTTTATCTTTCTTTTCGGTAGAAAACAATTCAATGGTTTTATCTAGCTCATCTTCTATGTCAGCTTTCATGTTGTAAGAAACTCCGTAAGCATCCGCCTCCAGGAAGTCCTTTTCGTACTGGCCGGAGTCCTTCCTGCTACCGCCCTCCTTGTAATCTTCGCCCTTCTCTTTCTTCTCGGCCTTCTCTTTCTTGGCTCGCTCTCGGTCGTGGCTCTTCTTGGATGAAGATGAGGAGTGTCTGTGCCTCTCCTTCTCTTTCAG... | pathogenic | 258,731 |
Variant in gene ANKRD11 (ankyrin repeat domain containing 11), located at chromosome 16 position 89284267: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['KBG_syndrome'] | TATTTTCTTGGAAGGTTCTCTCTCGGAATCATTTTTATCTTTCTTTTCGGTAGAAAACAATTCAATGGTTTTATCTAGCTCATCTTCTATGTCAGCTTTCATGTTGTAAGAAACTCCGTAAGCATCCGCCTCCAGGAAGTCCTTTTCGTACTGGCCGGAGTCCTTCCTGCTACCGCCCTCCTTGTAATCTTCGCCCTTCTCTTTCTTCTCGGCCTTCTCTTTCTTGGCTCGCTCTCGGTCGTGGCTCTTCTTGGATGAAGATGAGGAGTGTCTGTGCCTCTCCTTCTCTTTCAGCTTCTCAGGGAGGCAGGCGCTCTCCC... | TATTTTCTTGGAAGGTTCTCTCTCGGAATCATTTTTATCTTTCTTTTCGGTAGAAAACAATTCAATGGTTTTATCTAGCTCATCTTCTATGTCAGCTTTCATGTTGTAAGAAACTCCGTAAGCATCCGCCTCCAGGAAGTCCTTTTCGTACTGGCCGGAGTCCTTCCTGCTACCGCCCTCCTTGTAATCTTCGCCCTTCTCTTTCTTCTCGGCCTTCTCTTTCTTGGCTCGCTCTCGGTCGTGGCTCTTCTTGGATGAAGATGAGGAGTGTCTGTGCCTCTCCTTCTCTTTCAGCTTCTCAGGGAGGCAGGCGCTCTCCC... | pathogenic | 258,733 |
For chromosome 16, position 89284363, gene ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Inborn_genetic_diseases', 'KBG_syndrome'] | TTTCATGTTGTAAGAAACTCCGTAAGCATCCGCCTCCAGGAAGTCCTTTTCGTACTGGCCGGAGTCCTTCCTGCTACCGCCCTCCTTGTAATCTTCGCCCTTCTCTTTCTTCTCGGCCTTCTCTTTCTTGGCTCGCTCTCGGTCGTGGCTCTTCTTGGATGAAGATGAGGAGTGTCTGTGCCTCTCCTTCTCTTTCAGCTTCTCAGGGAGGCAGGCGCTCTCCCTCGGCTTGTCGTCTCCAGGTGGCTCCGTGAAAGAGACCTCCAGGAAGGCAGTCAGCCCCGGCTCCTGCCCTCGGTCCGTGAAGCTGTCAGAGGAGA... | TTTCATGTTGTAAGAAACTCCGTAAGCATCCGCCTCCAGGAAGTCCTTTTCGTACTGGCCGGAGTCCTTCCTGCTACCGCCCTCCTTGTAATCTTCGCCCTTCTCTTTCTTCTCGGCCTTCTCTTTCTTGGCTCGCTCTCGGTCGTGGCTCTTCTTGGATGAAGATGAGGAGTGTCTGTGCCTCTCCTTCTCTTTCAGCTTCTCAGGGAGGCAGGCGCTCTCCCTCGGCTTGTCGTCTCCAGGTGGCTCCGTGAAAGAGACCTCCAGGAAGGCAGTCAGCCCCGGCTCCTGCCCTCGGTCCGTGAAGCTGTCAGAGGAGA... | pathogenic | 258,741 |
Determine if the mutation at chromosome 16, position 89284450 in gene ANKRD11 (ankyrin repeat domain containing 11) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'KBG_syndrome'] | GTAATCTTCGCCCTTCTCTTTCTTCTCGGCCTTCTCTTTCTTGGCTCGCTCTCGGTCGTGGCTCTTCTTGGATGAAGATGAGGAGTGTCTGTGCCTCTCCTTCTCTTTCAGCTTCTCAGGGAGGCAGGCGCTCTCCCTCGGCTTGTCGTCTCCAGGTGGCTCCGTGAAAGAGACCTCCAGGAAGGCAGTCAGCCCCGGCTCCTGCCCTCGGTCCGTGAAGCTGTCAGAGGAGACCTCGCTGATTTTATCGTTGGAGTCTTCTCTGTACTCATGGAGAGCCTCTTCTTCCAACTTTTCAAGCAGGCTTTTTTCCGCGTCGG... | GTAATCTTCGCCCTTCTCTTTCTTCTCGGCCTTCTCTTTCTTGGCTCGCTCTCGGTCGTGGCTCTTCTTGGATGAAGATGAGGAGTGTCTGTGCCTCTCCTTCTCTTTCAGCTTCTCAGGGAGGCAGGCGCTCTCCCTCGGCTTGTCGTCTCCAGGTGGCTCCGTGAAAGAGACCTCCAGGAAGGCAGTCAGCCCCGGCTCCTGCCCTCGGTCCGTGAAGCTGTCAGAGGAGACCTCGCTGATTTTATCGTTGGAGTCTTCTCTGTACTCATGGAGAGCCTCTTCTTCCAACTTTTCAAGCAGGCTTTTTTCCGCGTCGG... | pathogenic | 258,743 |
The chromosome 16, position 89284486 genetic variant in gene ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['KBG_syndrome'] | TTTCTTGGCTCGCTCTCGGTCGTGGCTCTTCTTGGATGAAGATGAGGAGTGTCTGTGCCTCTCCTTCTCTTTCAGCTTCTCAGGGAGGCAGGCGCTCTCCCTCGGCTTGTCGTCTCCAGGTGGCTCCGTGAAAGAGACCTCCAGGAAGGCAGTCAGCCCCGGCTCCTGCCCTCGGTCCGTGAAGCTGTCAGAGGAGACCTCGCTGATTTTATCGTTGGAGTCTTCTCTGTACTCATGGAGAGCCTCTTCTTCCAACTTTTCAAGCAGGCTTTTTTCCGCGTCGGCACTTCTCGAGGACTTCCTCTCCTTGGAATGTTCTT... | TTTCTTGGCTCGCTCTCGGTCGTGGCTCTTCTTGGATGAAGATGAGGAGTGTCTGTGCCTCTCCTTCTCTTTCAGCTTCTCAGGGAGGCAGGCGCTCTCCCTCGGCTTGTCGTCTCCAGGTGGCTCCGTGAAAGAGACCTCCAGGAAGGCAGTCAGCCCCGGCTCCTGCCCTCGGTCCGTGAAGCTGTCAGAGGAGACCTCGCTGATTTTATCGTTGGAGTCTTCTCTGTACTCATGGAGAGCCTCTTCTTCCAACTTTTCAAGCAGGCTTTTTTCCGCGTCGGCACTTCTCGAGGACTTCCTCTCCTTGGAATGTTCTT... | pathogenic | 258,744 |
The chromosome 16, position 89284519 genetic variant in gene ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Developmental_disorder', 'KBG_syndrome'] | GGATGAAGATGAGGAGTGTCTGTGCCTCTCCTTCTCTTTCAGCTTCTCAGGGAGGCAGGCGCTCTCCCTCGGCTTGTCGTCTCCAGGTGGCTCCGTGAAAGAGACCTCCAGGAAGGCAGTCAGCCCCGGCTCCTGCCCTCGGTCCGTGAAGCTGTCAGAGGAGACCTCGCTGATTTTATCGTTGGAGTCTTCTCTGTACTCATGGAGAGCCTCTTCTTCCAACTTTTCAAGCAGGCTTTTTTCCGCGTCGGCACTTCTCGAGGACTTCCTCTCCTTGGAATGTTCTTTGTCCGACTTCTCTTTGTGTTTGCTTTTAGCCT... | GGATGAAGATGAGGAGTGTCTGTGCCTCTCCTTCTCTTTCAGCTTCTCAGGGAGGCAGGCGCTCTCCCTCGGCTTGTCGTCTCCAGGTGGCTCCGTGAAAGAGACCTCCAGGAAGGCAGTCAGCCCCGGCTCCTGCCCTCGGTCCGTGAAGCTGTCAGAGGAGACCTCGCTGATTTTATCGTTGGAGTCTTCTCTGTACTCATGGAGAGCCTCTTCTTCCAACTTTTCAAGCAGGCTTTTTTCCGCGTCGGCACTTCTCGAGGACTTCCTCTCCTTGGAATGTTCTTTGTCCGACTTCTCTTTGTGTTTGCTTTTAGCCT... | pathogenic | 258,746 |
Is the genetic change at chromosome 16, position 89284565, within gene ANKRD11 (ankyrin repeat domain containing 11) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['KBG_syndrome'] | TCAGGGAGGCAGGCGCTCTCCCTCGGCTTGTCGTCTCCAGGTGGCTCCGTGAAAGAGACCTCCAGGAAGGCAGTCAGCCCCGGCTCCTGCCCTCGGTCCGTGAAGCTGTCAGAGGAGACCTCGCTGATTTTATCGTTGGAGTCTTCTCTGTACTCATGGAGAGCCTCTTCTTCCAACTTTTCAAGCAGGCTTTTTTCCGCGTCGGCACTTCTCGAGGACTTCCTCTCCTTGGAATGTTCTTTGTCCGACTTCTCTTTGTGTTTGCTTTTAGCCTTGTCTTCGGCAGCGTGCTTCTTTTCAGCCTTCTCGGGGAGCTTCTG... | TCAGGGAGGCAGGCGCTCTCCCTCGGCTTGTCGTCTCCAGGTGGCTCCGTGAAAGAGACCTCCAGGAAGGCAGTCAGCCCCGGCTCCTGCCCTCGGTCCGTGAAGCTGTCAGAGGAGACCTCGCTGATTTTATCGTTGGAGTCTTCTCTGTACTCATGGAGAGCCTCTTCTTCCAACTTTTCAAGCAGGCTTTTTTCCGCGTCGGCACTTCTCGAGGACTTCCTCTCCTTGGAATGTTCTTTGTCCGACTTCTCTTTGTGTTTGCTTTTAGCCTTGTCTTCGGCAGCGTGCTTCTTTTCAGCCTTCTCGGGGAGCTTCTG... | pathogenic | 258,748 |
Chromosome 16, position 89284634, gene ANKRD11 (ankyrin repeat domain containing 11): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['ANKRD11-related_disorder', 'Abnormal_facial_shape', 'Clinodactyly_of_the_5th_finger', 'Conductive_hearing_impairment', 'Delayed_speech_and_language_development', 'Global_developmental_delay', 'Inborn_genetic_diseases', 'Intellectual_disability', 'KBG_syndrome', 'Neurodevelopmental_delay', 'Ptosis', 'Rare_... | GCAGTCAGCCCCGGCTCCTGCCCTCGGTCCGTGAAGCTGTCAGAGGAGACCTCGCTGATTTTATCGTTGGAGTCTTCTCTGTACTCATGGAGAGCCTCTTCTTCCAACTTTTCAAGCAGGCTTTTTTCCGCGTCGGCACTTCTCGAGGACTTCCTCTCCTTGGAATGTTCTTTGTCCGACTTCTCTTTGTGTTTGCTTTTAGCCTTGTCTTCGGCAGCGTGCTTCTTTTCAGCCTTCTCGGGGAGCTTCTGTTTATTTTTCTTATCTTGCGTGGAGTCCACTGAGGCTCTGTCCTTCCTGTCCTTGTACTTTTCTGTGGA... | GCAGTCAGCCCCGGCTCCTGCCCTCGGTCCGTGAAGCTGTCAGAGGAGACCTCGCTGATTTTATCGTTGGAGTCTTCTCTGTACTCATGGAGAGCCTCTTCTTCCAACTTTTCAAGCAGGCTTTTTTCCGCGTCGGCACTTCTCGAGGACTTCCTCTCCTTGGAATGTTCTTTGTCCGACTTCTCTTTGTGTTTGCTTTTAGCCTTGTCTTCGGCAGCGTGCTTCTTTTCAGCCTTCTCGGGGAGCTTCTGTTTATTTTTCTTATCTTGCGTGGAGTCCACTGAGGCTCTGTCCTTCCTGTCCTTGTACTTTTCTGTGGA... | pathogenic | 258,750 |
Chromosome 16, position 89284830, gene ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['KBG_syndrome'] | TTTTAGCCTTGTCTTCGGCAGCGTGCTTCTTTTCAGCCTTCTCGGGGAGCTTCTGTTTATTTTTCTTATCTTGCGTGGAGTCCACTGAGGCTCTGTCCTTCCTGTCCTTGTACTTTTCTGTGGACTCTTTATCCTTCTTCTCCTTGTGCTTTTCAAAGACTTTCTCTTTTTTGTCTCTCCCCGCGTCGGCAGCCCCTCGGTCCTTTCTCCTGTCTCTGGGCTCCTTGTCCTTCTGCCTCTCAGGGTGCTGCTTGTCAGAAGACTTCCTGTGTCTGTCGGAGGCATAGGCCTCCCGTCCTTCCTCCTTCTCCTGGAGGCCG... | TTTTAGCCTTGTCTTCGGCAGCGTGCTTCTTTTCAGCCTTCTCGGGGAGCTTCTGTTTATTTTTCTTATCTTGCGTGGAGTCCACTGAGGCTCTGTCCTTCCTGTCCTTGTACTTTTCTGTGGACTCTTTATCCTTCTTCTCCTTGTGCTTTTCAAAGACTTTCTCTTTTTTGTCTCTCCCCGCGTCGGCAGCCCCTCGGTCCTTTCTCCTGTCTCTGGGCTCCTTGTCCTTCTGCCTCTCAGGGTGCTGCTTGTCAGAAGACTTCCTGTGTCTGTCGGAGGCATAGGCCTCCCGTCCTTCCTCCTTCTCCTGGAGGCCG... | pathogenic | 258,764 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 89285063, gene ANKRD11 (ankyrin repeat domain containing 11). What disease(s) is it linked to if pathogenic? | pathogenic; ['KBG_syndrome'] | TGCCTCTCAGGGTGCTGCTTGTCAGAAGACTTCCTGTGTCTGTCGGAGGCATAGGCCTCCCGTCCTTCCTCCTTCTCCTGGAGGCCGTCCGTCCTCGGCAAGTCGCTGGCCTCTCCCATCTTGAACCCGCTCCCCATGCAGCTGTCTCTGTCGTCCTCACTCTCATCTGTGAAGATGTCTGCGATGTACCAGCTTTTCTCTTTGCCTTTCTTGTCATCTTTTTTTTCAGAGAAGTCTTCTGAGATGATCCCAGGGAAAGCCTTCTCCTTCTTCTCTTTCCCTTGGTCGAGAGACGCTTTCCTTTCTTTGTCTTTGCCATG... | TGCCTCTCAGGGTGCTGCTTGTCAGAAGACTTCCTGTGTCTGTCGGAGGCATAGGCCTCCCGTCCTTCCTCCTTCTCCTGGAGGCCGTCCGTCCTCGGCAAGTCGCTGGCCTCTCCCATCTTGAACCCGCTCCCCATGCAGCTGTCTCTGTCGTCCTCACTCTCATCTGTGAAGATGTCTGCGATGTACCAGCTTTTCTCTTTGCCTTTCTTGTCATCTTTTTTTTCAGAGAAGTCTTCTGAGATGATCCCAGGGAAAGCCTTCTCCTTCTTCTCTTTCCCTTGGTCGAGAGACGCTTTCCTTTCTTTGTCTTTGCCATG... | pathogenic | 258,770 |
Is the variant located on chromosome 16 at position 89285078, gene ANKRD11 (ankyrin repeat domain containing 11), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Inborn_genetic_diseases', 'KBG_syndrome'] | TGCTTGTCAGAAGACTTCCTGTGTCTGTCGGAGGCATAGGCCTCCCGTCCTTCCTCCTTCTCCTGGAGGCCGTCCGTCCTCGGCAAGTCGCTGGCCTCTCCCATCTTGAACCCGCTCCCCATGCAGCTGTCTCTGTCGTCCTCACTCTCATCTGTGAAGATGTCTGCGATGTACCAGCTTTTCTCTTTGCCTTTCTTGTCATCTTTTTTTTCAGAGAAGTCTTCTGAGATGATCCCAGGGAAAGCCTTCTCCTTCTTCTCTTTCCCTTGGTCGAGAGACGCTTTCCTTTCTTTGTCTTTGCCATGTGTGTCTTTATGTTT... | TGCTTGTCAGAAGACTTCCTGTGTCTGTCGGAGGCATAGGCCTCCCGTCCTTCCTCCTTCTCCTGGAGGCCGTCCGTCCTCGGCAAGTCGCTGGCCTCTCCCATCTTGAACCCGCTCCCCATGCAGCTGTCTCTGTCGTCCTCACTCTCATCTGTGAAGATGTCTGCGATGTACCAGCTTTTCTCTTTGCCTTTCTTGTCATCTTTTTTTTCAGAGAAGTCTTCTGAGATGATCCCAGGGAAAGCCTTCTCCTTCTTCTCTTTCCCTTGGTCGAGAGACGCTTTCCTTTCTTTGTCTTTGCCATGTGTGTCTTTATGTTT... | pathogenic | 258,771 |
Clinical classification of chromosome 16, position 89285157, gene ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Global_developmental_delay', 'Inborn_genetic_diseases', 'KBG_syndrome'] | TCGGCAAGTCGCTGGCCTCTCCCATCTTGAACCCGCTCCCCATGCAGCTGTCTCTGTCGTCCTCACTCTCATCTGTGAAGATGTCTGCGATGTACCAGCTTTTCTCTTTGCCTTTCTTGTCATCTTTTTTTTCAGAGAAGTCTTCTGAGATGATCCCAGGGAAAGCCTTCTCCTTCTTCTCTTTCCCTTGGTCGAGAGACGCTTTCCTTTCTTTGTCTTTGCCATGTGTGTCTTTATGTTTTTCCTTGGTATCTTTTTTCTCTTTAAAACATTTATCAAATTCTTTGTCCTTCTGACATTTTTCCAGGATTGATTTCTCA... | TCGGCAAGTCGCTGGCCTCTCCCATCTTGAACCCGCTCCCCATGCAGCTGTCTCTGTCGTCCTCACTCTCATCTGTGAAGATGTCTGCGATGTACCAGCTTTTCTCTTTGCCTTTCTTGTCATCTTTTTTTTCAGAGAAGTCTTCTGAGATGATCCCAGGGAAAGCCTTCTCCTTCTTCTCTTTCCCTTGGTCGAGAGACGCTTTCCTTTCTTTGTCTTTGCCATGTGTGTCTTTATGTTTTTCCTTGGTATCTTTTTTCTCTTTAAAACATTTATCAAATTCTTTGTCCTTCTGACATTTTTCCAGGATTGATTTCTCA... | pathogenic | 258,775 |
Variant in ANKRD11 (ankyrin repeat domain containing 11), chromosome 16, position 89285182—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Inborn_genetic_diseases'] | CTTGAACCCGCTCCCCATGCAGCTGTCTCTGTCGTCCTCACTCTCATCTGTGAAGATGTCTGCGATGTACCAGCTTTTCTCTTTGCCTTTCTTGTCATCTTTTTTTTCAGAGAAGTCTTCTGAGATGATCCCAGGGAAAGCCTTCTCCTTCTTCTCTTTCCCTTGGTCGAGAGACGCTTTCCTTTCTTTGTCTTTGCCATGTGTGTCTTTATGTTTTTCCTTGGTATCTTTTTTCTCTTTAAAACATTTATCAAATTCTTTGTCCTTCTGACATTTTTCCAGGATTGATTTCTCACTTTTGTCCTTGTCACTGGATTTCT... | CTTGAACCCGCTCCCCATGCAGCTGTCTCTGTCGTCCTCACTCTCATCTGTGAAGATGTCTGCGATGTACCAGCTTTTCTCTTTGCCTTTCTTGTCATCTTTTTTTTCAGAGAAGTCTTCTGAGATGATCCCAGGGAAAGCCTTCTCCTTCTTCTCTTTCCCTTGGTCGAGAGACGCTTTCCTTTCTTTGTCTTTGCCATGTGTGTCTTTATGTTTTTCCTTGGTATCTTTTTTCTCTTTAAAACATTTATCAAATTCTTTGTCCTTCTGACATTTTTCCAGGATTGATTTCTCACTTTTGTCCTTGTCACTGGATTTCT... | pathogenic | 258,777 |
Variant on chromosome 16, at position 89285186, affecting ANKRD11 (ankyrin repeat domain containing 11): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases'] | AACCCGCTCCCCATGCAGCTGTCTCTGTCGTCCTCACTCTCATCTGTGAAGATGTCTGCGATGTACCAGCTTTTCTCTTTGCCTTTCTTGTCATCTTTTTTTTCAGAGAAGTCTTCTGAGATGATCCCAGGGAAAGCCTTCTCCTTCTTCTCTTTCCCTTGGTCGAGAGACGCTTTCCTTTCTTTGTCTTTGCCATGTGTGTCTTTATGTTTTTCCTTGGTATCTTTTTTCTCTTTAAAACATTTATCAAATTCTTTGTCCTTCTGACATTTTTCCAGGATTGATTTCTCACTTTTGTCCTTGTCACTGGATTTCTCTTT... | AACCCGCTCCCCATGCAGCTGTCTCTGTCGTCCTCACTCTCATCTGTGAAGATGTCTGCGATGTACCAGCTTTTCTCTTTGCCTTTCTTGTCATCTTTTTTTTCAGAGAAGTCTTCTGAGATGATCCCAGGGAAAGCCTTCTCCTTCTTCTCTTTCCCTTGGTCGAGAGACGCTTTCCTTTCTTTGTCTTTGCCATGTGTGTCTTTATGTTTTTCCTTGGTATCTTTTTTCTCTTTAAAACATTTATCAAATTCTTTGTCCTTCTGACATTTTTCCAGGATTGATTTCTCACTTTTGTCCTTGTCACTGGATTTCTCTTT... | pathogenic | 258,778 |
Determine whether the variant at chromosome 16, position 89285564, in gene ANKRD11 (ankyrin repeat domain containing 11) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['KBG_syndrome'] | TTCTCTCGTGCTGGGTGGTGCCGTTCCCACGGCTCCAGGCCCTTCCCAAAGTCGCCGTCGGACTTGTCCTTGAAGCCACTCTCGCAGCCACACTCCTTCAGCTCCTCCCGGTGCGCCTCCTCGGGCTTGGCCCTGCCGTCCCTGCGCTCCTTGCAGCTCTCCAGGGCGTCCTTTCTGTCCCGCCCGGCCTCTGCGGACTCTCTCCTCTTCTTGTCCTTTTCCGAAAGGTAGCCAGGGACACTTTTATGCTTTTCGGTCTGCTCTTTCCTCTTCTCAGAGTTTTTATCCAAATAGTCCCTGTCCTTCTTTCGGAAGAAGGG... | TTCTCTCGTGCTGGGTGGTGCCGTTCCCACGGCTCCAGGCCCTTCCCAAAGTCGCCGTCGGACTTGTCCTTGAAGCCACTCTCGCAGCCACACTCCTTCAGCTCCTCCCGGTGCGCCTCCTCGGGCTTGGCCCTGCCGTCCCTGCGCTCCTTGCAGCTCTCCAGGGCGTCCTTTCTGTCCCGCCCGGCCTCTGCGGACTCTCTCCTCTTCTTGTCCTTTTCCGAAAGGTAGCCAGGGACACTTTTATGCTTTTCGGTCTGCTCTTTCCTCTTCTCAGAGTTTTTATCCAAATAGTCCCTGTCCTTCTTTCGGAAGAAGGG... | pathogenic | 258,798 |
Does the variant on chromosome 16 at location 89508488 affecting gene SPG7 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_spastic_paraplegia_7'] | TGTCCCGTGACCAACCCAACCAAACTTCCGAAAGGGTTTTTTGTGTTCTAGGAAGTGACCGAGCCCCACAACCCTTTATGCCTGTGCGTTCAGAGGATTTGTGACCTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAGCGCCCGGCTAATTTTTCGTATTTTTAGTAGAGACGGGGTTTCGCCGTGTTAGCCAGGATGG... | TGTCCCGTGACCAACCCAACCAAACTTCCGAAAGGGTTTTTTGTGTTCTAGGAAGTGACCGAGCCCCACAACCCTTTATGCCTGTGCGTTCAGAGGATTTGTGACCTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAGCGCCCGGCTAATTTTTCGTATTTTTAGTAGAGACGGGGTTTCGCCGTGTTAGCCAGGATGG... | pathogenic | 258,865 |
Variant in SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin), chromosome 16, position 89510471—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | CGTGCTGCTGCTGCTGCTCCGTGCCCTCCGCCGGGGTCCAGGCCCGGGTCCTCGGCCGCTGTGGGGCCCAGGCCCGGCCTGGAGTCCAGGGTTCCCCGCCAGGCCCGGGAGGGGGCGGCCGTACATGGCCAGCAGGCCTCCGGGGGACCTCGCCGAGGCTGGAGGCCGAGCTCTGCAGGTAAATCCCCGCGGAGTCCGGGCCCCACCTCCCGCCCGGCTCTGCTCTGTAAGGCCCAGCCCGGCGGGGCGGGTCGGAGGCCGCCTGGCCCCTGCGGCGGGGGAGCCTGCGCCTGTGGGCCCGCGGATCCCCCAGCTGTGGA... | CGTGCTGCTGCTGCTGCTCCGTGCCCTCCGCCGGGGTCCAGGCCCGGGTCCTCGGCCGCTGTGGGGCCCAGGCCCGGCCTGGAGTCCAGGGTTCCCCGCCAGGCCCGGGAGGGGGCGGCCGTACATGGCCAGCAGGCCTCCGGGGGACCTCGCCGAGGCTGGAGGCCGAGCTCTGCAGGTAAATCCCCGCGGAGTCCGGGCCCCACCTCCCGCCCGGCTCTGCTCTGTAAGGCCCAGCCCGGCGGGGCGGGTCGGAGGCCGCCTGGCCCCTGCGGCGGGGGAGCCTGCGCCTGTGGGCCCGCGGATCCCCCAGCTGTGGA... | benign | 258,869 |
Considering the variant on chromosome 16, location 89510506, involving gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_spastic_paraplegia_7'] | GTCCAGGCCCGGGTCCTCGGCCGCTGTGGGGCCCAGGCCCGGCCTGGAGTCCAGGGTTCCCCGCCAGGCCCGGGAGGGGGCGGCCGTACATGGCCAGCAGGCCTCCGGGGGACCTCGCCGAGGCTGGAGGCCGAGCTCTGCAGGTAAATCCCCGCGGAGTCCGGGCCCCACCTCCCGCCCGGCTCTGCTCTGTAAGGCCCAGCCCGGCGGGGCGGGTCGGAGGCCGCCTGGCCCCTGCGGCGGGGGAGCCTGCGCCTGTGGGCCCGCGGATCCCCCAGCTGTGGACCTCGGCGCGGAGCGACTGTTGGGGCCCTGGATCG... | GTCCAGGCCCGGGTCCTCGGCCGCTGTGGGGCCCAGGCCCGGCCTGGAGTCCAGGGTTCCCCGCCAGGCCCGGGAGGGGGCGGCCGTACATGGCCAGCAGGCCTCCGGGGGACCTCGCCGAGGCTGGAGGCCGAGCTCTGCAGGTAAATCCCCGCGGAGTCCGGGCCCCACCTCCCGCCCGGCTCTGCTCTGTAAGGCCCAGCCCGGCGGGGCGGGTCGGAGGCCGCCTGGCCCCTGCGGCGGGGGAGCCTGCGCCTGTGGGCCCGCGGATCCCCCAGCTGTGGACCTCGGCGCGGAGCGACTGTTGGGGCCCTGGATCG... | pathogenic | 258,870 |
The genetic variant at chromosome 16, position 89510576, affecting gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia_7'] | CGGGAGGGGGCGGCCGTACATGGCCAGCAGGCCTCCGGGGGACCTCGCCGAGGCTGGAGGCCGAGCTCTGCAGGTAAATCCCCGCGGAGTCCGGGCCCCACCTCCCGCCCGGCTCTGCTCTGTAAGGCCCAGCCCGGCGGGGCGGGTCGGAGGCCGCCTGGCCCCTGCGGCGGGGGAGCCTGCGCCTGTGGGCCCGCGGATCCCCCAGCTGTGGACCTCGGCGCGGAGCGACTGTTGGGGCCCTGGATCGTGGGCGCTGGGCGGGCCGGGAAGAGGCAGGGCTGGGATCCGCGCAGTCCTCGGCGTGGACTTTCCCAACC... | CGGGAGGGGGCGGCCGTACATGGCCAGCAGGCCTCCGGGGGACCTCGCCGAGGCTGGAGGCCGAGCTCTGCAGGTAAATCCCCGCGGAGTCCGGGCCCCACCTCCCGCCCGGCTCTGCTCTGTAAGGCCCAGCCCGGCGGGGCGGGTCGGAGGCCGCCTGGCCCCTGCGGCGGGGGAGCCTGCGCCTGTGGGCCCGCGGATCCCCCAGCTGTGGACCTCGGCGCGGAGCGACTGTTGGGGCCCTGGATCGTGGGCGCTGGGCGGGCCGGGAAGAGGCAGGGCTGGGATCCGCGCAGTCCTCGGCGTGGACTTTCCCAACC... | pathogenic | 258,874 |
Determine whether the variant at chromosome 16, position 89512995, in gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_7'] | CTCAGCCTTCCATAGAGCCAGGACTCCAGGCACACACCAAAGCGCCTAGCTAATTTTTGGGGGGTATTTTTTGTGGAGATGGGGTTTTGCCACGTTTCCCAGGCTGGTCTTAAACTCCTGGACTCAAGCGATCAGCCTGCCTTGGCCTCCCAAAGTGTTGAGATCACAGGCATGAGCCACCGCATCTGGCCAAGTTGTCCTTTTTTAAAAAAAATTCTGCTGTATTCCAGTAATTGGGCTGCTTGAAAAAGGTTTTTCGTGTTATCTAGTCAGCTGCAAGAATGTTTAGTAAGGATTTACAAAGTGGCTACAGATGTTTT... | CTCAGCCTTCCATAGAGCCAGGACTCCAGGCACACACCAAAGCGCCTAGCTAATTTTTGGGGGGTATTTTTTGTGGAGATGGGGTTTTGCCACGTTTCCCAGGCTGGTCTTAAACTCCTGGACTCAAGCGATCAGCCTGCCTTGGCCTCCCAAAGTGTTGAGATCACAGGCATGAGCCACCGCATCTGGCCAAGTTGTCCTTTTTTAAAAAAAATTCTGCTGTATTCCAGTAATTGGGCTGCTTGAAAAAGGTTTTTCGTGTTATCTAGTCAGCTGCAAGAATGTTTAGTAAGGATTTACAAAGTGGCTACAGATGTTTT... | pathogenic | 258,878 |
A mutation at chromosome position 89524098 on chromosome 16 in gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_spastic_paraplegia_7'] | TTTCTAACAATTGGATACTCACCTGAGAACATAAATTTGCTCTCTGAAATAAGCGGTGGGCTTTAAATAATTGCCTTTGTGAATATGAAATTTAAGTATTAGATGCACGATTAGGATCGATTGTAACAAAACAGTGATATCTAAAATATACCTTCATGTTTTCAAAGTAATTATTTTGCCACCTTTTTAGTGGGTTTCATTTTGTGTTTTTAAGCCGATTTAAAAATTGTTTGAATTCGTCTAAAATGATTGTTGGAAAGGAAGGTGGTACATGGGACGTGCCCAGGCCAGGCTTTGATCCCAGCATGAAGCCCCCGCAA... | TTTCTAACAATTGGATACTCACCTGAGAACATAAATTTGCTCTCTGAAATAAGCGGTGGGCTTTAAATAATTGCCTTTGTGAATATGAAATTTAAGTATTAGATGCACGATTAGGATCGATTGTAACAAAACAGTGATATCTAAAATATACCTTCATGTTTTCAAAGTAATTATTTTGCCACCTTTTTAGTGGGTTTCATTTTGTGTTTTTAAGCCGATTTAAAAATTGTTTGAATTCGTCTAAAATGATTGTTGGAAAGGAAGGTGGTACATGGGACGTGCCCAGGCCAGGCTTTGATCCCAGCATGAAGCCCCCGCAA... | pathogenic | 258,888 |
Variant in gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin), located at chromosome 16 position 89524249: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CTTCATGTTTTCAAAGTAATTATTTTGCCACCTTTTTAGTGGGTTTCATTTTGTGTTTTTAAGCCGATTTAAAAATTGTTTGAATTCGTCTAAAATGATTGTTGGAAAGGAAGGTGGTACATGGGACGTGCCCAGGCCAGGCTTTGATCCCAGCATGAAGCCCCCGCAAGACAATGCAGGAGGAGAAGAGCTGTGAATCTCAAGAAGACGTGAGCCTCTCGTCCCGGCTGCTGGGTCCGTGGCGGTTTGTCCGCAGGCGCAGGTGTTCTGGAAATGACGTCGTTACCACCGCTGGGTCTGTGGCGGTTTGTCCGCAGGCG... | CTTCATGTTTTCAAAGTAATTATTTTGCCACCTTTTTAGTGGGTTTCATTTTGTGTTTTTAAGCCGATTTAAAAATTGTTTGAATTCGTCTAAAATGATTGTTGGAAAGGAAGGTGGTACATGGGACGTGCCCAGGCCAGGCTTTGATCCCAGCATGAAGCCCCCGCAAGACAATGCAGGAGGAGAAGAGCTGTGAATCTCAAGAAGACGTGAGCCTCTCGTCCCGGCTGCTGGGTCCGTGGCGGTTTGTCCGCAGGCGCAGGTGTTCTGGAAATGACGTCGTTACCACCGCTGGGTCTGTGGCGGTTTGTCCGCAGGCG... | benign | 258,890 |
Considering the variant on chromosome 16, location 89526419, involving gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_spastic_paraplegia_7'] | ACCTGTGATTGAGGGCATGCTTCTTTCTCATGCAGGGACCTCAGCCCATTGATTTGCATTTATTTGGTTGCCTTTGTTTTTGTTTTTGTTTTTGAGACAGTCTCGCTCTGTTGGCCAGGCTGAAGCGCAGTGATGTGATCTTGGCTCACTGCAACATCTGCCTCCCGAGTTCAAGGGATTCTCCTGGCTCAGCCTCCCGGGTAGCTGGGATTACAGGCGTGCACCACAACGCCTGGCTAATTTTTGTAGTTCTAGTAGAGATGGGGTTTCTCCATGTTGGGCAAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCC... | ACCTGTGATTGAGGGCATGCTTCTTTCTCATGCAGGGACCTCAGCCCATTGATTTGCATTTATTTGGTTGCCTTTGTTTTTGTTTTTGTTTTTGAGACAGTCTCGCTCTGTTGGCCAGGCTGAAGCGCAGTGATGTGATCTTGGCTCACTGCAACATCTGCCTCCCGAGTTCAAGGGATTCTCCTGGCTCAGCCTCCCGGGTAGCTGGGATTACAGGCGTGCACCACAACGCCTGGCTAATTTTTGTAGTTCTAGTAGAGATGGGGTTTCTCCATGTTGGGCAAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCC... | pathogenic | 258,896 |
Clinical significance of chromosome 16, position 89529488, gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_7', 'SPG7-related_disorder'] | TTCTATTTTCAGTATATTTTGTTTTCAAAAGTAAGCGATCACTTTCAGTTAGCAAGGCAAGATCAGCCTAGCAGTAAGAAAGAAAGTCAAGGAGGACCGTGATAATGTCCTGGGCTTGCTCTCTTCTACAGACAGGAAAATGGAACGGGAAAAGGGTAGACACAGGAAGGTGAAATTCTCATTTCAGTGTTGAGAGGGAAACAGACCAGGTGGGAGCTGTCAGCACGTATGGACCATGGACCCTGACAGGTTCCTTAGTAGGACAAATGAGGGGCCAGCGGGTACTGAAACAGAGGTTTATTGTTGACTTGTAATCTCTG... | TTCTATTTTCAGTATATTTTGTTTTCAAAAGTAAGCGATCACTTTCAGTTAGCAAGGCAAGATCAGCCTAGCAGTAAGAAAGAAAGTCAAGGAGGACCGTGATAATGTCCTGGGCTTGCTCTCTTCTACAGACAGGAAAATGGAACGGGAAAAGGGTAGACACAGGAAGGTGAAATTCTCATTTCAGTGTTGAGAGGGAAACAGACCAGGTGGGAGCTGTCAGCACGTATGGACCATGGACCCTGACAGGTTCCTTAGTAGGACAAATGAGGGGCCAGCGGGTACTGAAACAGAGGTTTATTGTTGACTTGTAATCTCTG... | pathogenic | 258,901 |
Clinically, how would you classify the variant at chromosome 16, position 89529492, gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_spastic_paraplegia_7'] | ATTTTCAGTATATTTTGTTTTCAAAAGTAAGCGATCACTTTCAGTTAGCAAGGCAAGATCAGCCTAGCAGTAAGAAAGAAAGTCAAGGAGGACCGTGATAATGTCCTGGGCTTGCTCTCTTCTACAGACAGGAAAATGGAACGGGAAAAGGGTAGACACAGGAAGGTGAAATTCTCATTTCAGTGTTGAGAGGGAAACAGACCAGGTGGGAGCTGTCAGCACGTATGGACCATGGACCCTGACAGGTTCCTTAGTAGGACAAATGAGGGGCCAGCGGGTACTGAAACAGAGGTTTATTGTTGACTTGTAATCTCTGAAGA... | ATTTTCAGTATATTTTGTTTTCAAAAGTAAGCGATCACTTTCAGTTAGCAAGGCAAGATCAGCCTAGCAGTAAGAAAGAAAGTCAAGGAGGACCGTGATAATGTCCTGGGCTTGCTCTCTTCTACAGACAGGAAAATGGAACGGGAAAAGGGTAGACACAGGAAGGTGAAATTCTCATTTCAGTGTTGAGAGGGAAACAGACCAGGTGGGAGCTGTCAGCACGTATGGACCATGGACCCTGACAGGTTCCTTAGTAGGACAAATGAGGGGCCAGCGGGTACTGAAACAGAGGTTTATTGTTGACTTGTAATCTCTGAAGA... | pathogenic | 258,902 |
Regarding the variant at chromosome 16 and position 89529496, affecting gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_spastic_paraplegia_7'] | TCAGTATATTTTGTTTTCAAAAGTAAGCGATCACTTTCAGTTAGCAAGGCAAGATCAGCCTAGCAGTAAGAAAGAAAGTCAAGGAGGACCGTGATAATGTCCTGGGCTTGCTCTCTTCTACAGACAGGAAAATGGAACGGGAAAAGGGTAGACACAGGAAGGTGAAATTCTCATTTCAGTGTTGAGAGGGAAACAGACCAGGTGGGAGCTGTCAGCACGTATGGACCATGGACCCTGACAGGTTCCTTAGTAGGACAAATGAGGGGCCAGCGGGTACTGAAACAGAGGTTTATTGTTGACTTGTAATCTCTGAAGATGTA... | TCAGTATATTTTGTTTTCAAAAGTAAGCGATCACTTTCAGTTAGCAAGGCAAGATCAGCCTAGCAGTAAGAAAGAAAGTCAAGGAGGACCGTGATAATGTCCTGGGCTTGCTCTCTTCTACAGACAGGAAAATGGAACGGGAAAAGGGTAGACACAGGAAGGTGAAATTCTCATTTCAGTGTTGAGAGGGAAACAGACCAGGTGGGAGCTGTCAGCACGTATGGACCATGGACCCTGACAGGTTCCTTAGTAGGACAAATGAGGGGCCAGCGGGTACTGAAACAGAGGTTTATTGTTGACTTGTAATCTCTGAAGATGTA... | pathogenic | 258,903 |
Mutation at chromosome 16, position 89529568, within SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_7'] | AGAAAGTCAAGGAGGACCGTGATAATGTCCTGGGCTTGCTCTCTTCTACAGACAGGAAAATGGAACGGGAAAAGGGTAGACACAGGAAGGTGAAATTCTCATTTCAGTGTTGAGAGGGAAACAGACCAGGTGGGAGCTGTCAGCACGTATGGACCATGGACCCTGACAGGTTCCTTAGTAGGACAAATGAGGGGCCAGCGGGTACTGAAACAGAGGTTTATTGTTGACTTGTAATCTCTGAAGATGTAGAATGCCAGTGACTGGCAAGTACTCCCTTGATCAAAATGTACCTCTAGCCGGGTGCAGTGGCTATGCCTGTA... | AGAAAGTCAAGGAGGACCGTGATAATGTCCTGGGCTTGCTCTCTTCTACAGACAGGAAAATGGAACGGGAAAAGGGTAGACACAGGAAGGTGAAATTCTCATTTCAGTGTTGAGAGGGAAACAGACCAGGTGGGAGCTGTCAGCACGTATGGACCATGGACCCTGACAGGTTCCTTAGTAGGACAAATGAGGGGCCAGCGGGTACTGAAACAGAGGTTTATTGTTGACTTGTAATCTCTGAAGATGTAGAATGCCAGTGACTGGCAAGTACTCCCTTGATCAAAATGTACCTCTAGCCGGGTGCAGTGGCTATGCCTGTA... | pathogenic | 258,904 |
Is the genetic mutation found on chromosome 16 at position 89529575, within the gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_7', 'Mitochondrial_disease'] | CAAGGAGGACCGTGATAATGTCCTGGGCTTGCTCTCTTCTACAGACAGGAAAATGGAACGGGAAAAGGGTAGACACAGGAAGGTGAAATTCTCATTTCAGTGTTGAGAGGGAAACAGACCAGGTGGGAGCTGTCAGCACGTATGGACCATGGACCCTGACAGGTTCCTTAGTAGGACAAATGAGGGGCCAGCGGGTACTGAAACAGAGGTTTATTGTTGACTTGTAATCTCTGAAGATGTAGAATGCCAGTGACTGGCAAGTACTCCCTTGATCAAAATGTACCTCTAGCCGGGTGCAGTGGCTATGCCTGTAATCCCAG... | CAAGGAGGACCGTGATAATGTCCTGGGCTTGCTCTCTTCTACAGACAGGAAAATGGAACGGGAAAAGGGTAGACACAGGAAGGTGAAATTCTCATTTCAGTGTTGAGAGGGAAACAGACCAGGTGGGAGCTGTCAGCACGTATGGACCATGGACCCTGACAGGTTCCTTAGTAGGACAAATGAGGGGCCAGCGGGTACTGAAACAGAGGTTTATTGTTGACTTGTAATCTCTGAAGATGTAGAATGCCAGTGACTGGCAAGTACTCCCTTGATCAAAATGTACCTCTAGCCGGGTGCAGTGGCTATGCCTGTAATCCCAG... | pathogenic | 258,905 |
The mutation in gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin) at chromosome 16, position 89529580—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_7'] | AGGACCGTGATAATGTCCTGGGCTTGCTCTCTTCTACAGACAGGAAAATGGAACGGGAAAAGGGTAGACACAGGAAGGTGAAATTCTCATTTCAGTGTTGAGAGGGAAACAGACCAGGTGGGAGCTGTCAGCACGTATGGACCATGGACCCTGACAGGTTCCTTAGTAGGACAAATGAGGGGCCAGCGGGTACTGAAACAGAGGTTTATTGTTGACTTGTAATCTCTGAAGATGTAGAATGCCAGTGACTGGCAAGTACTCCCTTGATCAAAATGTACCTCTAGCCGGGTGCAGTGGCTATGCCTGTAATCCCAGCACTT... | AGGACCGTGATAATGTCCTGGGCTTGCTCTCTTCTACAGACAGGAAAATGGAACGGGAAAAGGGTAGACACAGGAAGGTGAAATTCTCATTTCAGTGTTGAGAGGGAAACAGACCAGGTGGGAGCTGTCAGCACGTATGGACCATGGACCCTGACAGGTTCCTTAGTAGGACAAATGAGGGGCCAGCGGGTACTGAAACAGAGGTTTATTGTTGACTTGTAATCTCTGAAGATGTAGAATGCCAGTGACTGGCAAGTACTCCCTTGATCAAAATGTACCTCTAGCCGGGTGCAGTGGCTATGCCTGTAATCCCAGCACTT... | pathogenic | 258,907 |
Is the chromosome 16, position 89530753 variant in SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_spastic_paraplegia_7'] | CAGTGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCACACCACCACATCCAGCTAAGTTTTTTTGTATTTTTAGTAGACACAGGGTTTATTCTTACATTTTTCTTTTCTTTTTGAGATGGAGTCTTGCTCTGTAGCTCAGGCTGGAGTTCAGTGGCACGATCTTGACTCACTGCAGCCTTCACCTCCTAGGTTCAAGCATTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTGCAGACGCATGCCACCATGTCCAGCTAATTTTTGTATTTTTTTAGTAGATATGGGGTTTTACCATGTTGGCCAG... | CAGTGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCACACCACCACATCCAGCTAAGTTTTTTTGTATTTTTAGTAGACACAGGGTTTATTCTTACATTTTTCTTTTCTTTTTGAGATGGAGTCTTGCTCTGTAGCTCAGGCTGGAGTTCAGTGGCACGATCTTGACTCACTGCAGCCTTCACCTCCTAGGTTCAAGCATTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTGCAGACGCATGCCACCATGTCCAGCTAATTTTTGTATTTTTTTAGTAGATATGGGGTTTTACCATGTTGGCCAG... | pathogenic | 258,914 |
Considering the genetic mutation at chromosome 16, position 89530793, impacting SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia_7'] | ACAGATGCACACCACCACATCCAGCTAAGTTTTTTTGTATTTTTAGTAGACACAGGGTTTATTCTTACATTTTTCTTTTCTTTTTGAGATGGAGTCTTGCTCTGTAGCTCAGGCTGGAGTTCAGTGGCACGATCTTGACTCACTGCAGCCTTCACCTCCTAGGTTCAAGCATTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTGCAGACGCATGCCACCATGTCCAGCTAATTTTTGTATTTTTTTAGTAGATATGGGGTTTTACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATTCACCCGCCACG... | ACAGATGCACACCACCACATCCAGCTAAGTTTTTTTGTATTTTTAGTAGACACAGGGTTTATTCTTACATTTTTCTTTTCTTTTTGAGATGGAGTCTTGCTCTGTAGCTCAGGCTGGAGTTCAGTGGCACGATCTTGACTCACTGCAGCCTTCACCTCCTAGGTTCAAGCATTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTGCAGACGCATGCCACCATGTCCAGCTAATTTTTGTATTTTTTTAGTAGATATGGGGTTTTACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATTCACCCGCCACG... | pathogenic | 258,916 |
Variant at chromosome position 89531960, chromosome 16, gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_spastic_paraplegia_7'] | TCACCGCAACTTGCACCTCCCGCATTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACGCGCCACCACGTCCAGCTAATTTTGTATTTTTGGTAGAGACGGGGTTTCTCCATGTTGTTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCTGGCCTTTCTTTTTTGTGTGTGTGTGTGTGTGACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTG... | TCACCGCAACTTGCACCTCCCGCATTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACGCGCCACCACGTCCAGCTAATTTTGTATTTTTGGTAGAGACGGGGTTTCTCCATGTTGTTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCTGGCCTTTCTTTTTTGTGTGTGTGTGTGTGTGACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTG... | pathogenic | 258,922 |
Gene mutation in SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin) at chromosome 16, position 89531962—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_7', 'SPG7-related_disorder'] | ACCGCAACTTGCACCTCCCGCATTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACGCGCCACCACGTCCAGCTAATTTTGTATTTTTGGTAGAGACGGGGTTTCTCCATGTTGTTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCTGGCCTTTCTTTTTTGTGTGTGTGTGTGTGTGACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCC... | ACCGCAACTTGCACCTCCCGCATTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACGCGCCACCACGTCCAGCTAATTTTGTATTTTTGGTAGAGACGGGGTTTCTCCATGTTGTTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCTGGCCTTTCTTTTTTGTGTGTGTGTGTGTGTGACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCC... | pathogenic | 258,924 |
Considering the genetic mutation at chromosome 16, position 89531962, impacting SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia_7'] | ACCGCAACTTGCACCTCCCGCATTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACGCGCCACCACGTCCAGCTAATTTTGTATTTTTGGTAGAGACGGGGTTTCTCCATGTTGTTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCTGGCCTTTCTTTTTTGTGTGTGTGTGTGTGTGACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCC... | ACCGCAACTTGCACCTCCCGCATTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCACGCGCCACCACGTCCAGCTAATTTTGTATTTTTGGTAGAGACGGGGTTTCTCCATGTTGTTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCTGGCCTTTCTTTTTTGTGTGTGTGTGTGTGTGACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCC... | pathogenic | 258,925 |
Considering the genetic mutation at chromosome 16, position 89546656, impacting SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cerebral_cortical_atrophy', 'Distal_spinal_muscular_atrophy', 'Dysarthria', 'Gait_ataxia', 'Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_7', 'Inborn_genetic_diseases', 'Memory_impairment', 'Seizure', 'Spastic_paraparesis', 'Spastic_paraplegia'] | ACCCCTACCCTCAGAGCCACTGTCTGCTCTGTCCCCTCAGGAATGGGTACCACAGACCATGTCATCGTCCTGGCGTCCACGAACCGAGCTGACATTTTGGACGGTGCTCTGATGAGGCCAGGCCGACTGGACCGGCACGTCTTCATTGATCTCCCCACGCTGCAGGTCAGAGCCAGGATCCCAGCCTCTCCCACTCCACCTGGGCCGCCCCCACTCGCTCTGAGTGGTCTGGCCTCTCCTCTAAGACACTTCTTGGTGTGAAGCCTGTCACAGCCCCACAGGTGCTGGCAGTGTCCAGCGTGGCCCCCGCATCGGCTGCA... | ACCCCTACCCTCAGAGCCACTGTCTGCTCTGTCCCCTCAGGAATGGGTACCACAGACCATGTCATCGTCCTGGCGTCCACGAACCGAGCTGACATTTTGGACGGTGCTCTGATGAGGCCAGGCCGACTGGACCGGCACGTCTTCATTGATCTCCCCACGCTGCAGGTCAGAGCCAGGATCCCAGCCTCTCCCACTCCACCTGGGCCGCCCCCACTCGCTCTGAGTGGTCTGGCCTCTCCTCTAAGACACTTCTTGGTGTGAAGCCTGTCACAGCCCCACAGGTGCTGGCAGTGTCCAGCGTGGCCCCCGCATCGGCTGCA... | pathogenic | 258,953 |
Gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin) variant at chromosome position 89547991 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TCAGGGCTCAAGCTGAGGAGCTAGGACTACTATGGGCGTGCGCCGCCGTGCTGGTTAATTTTTAACAGAGTCTCGCTGTGTTGCCAAGGCTGGTGTCAAACCCCTGGCCTCAAGTGATCCCCACCCACCTCTCCTTCCAAGAGCGTTCTCTTTTTTTTTTTTTTGAGACAGTCTCACTCTATCCCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAACCACCATCTCCCAGGTTCAAGTGATTGTCCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCGTCTTGCCTGGCTAATTTTTGTAT... | TCAGGGCTCAAGCTGAGGAGCTAGGACTACTATGGGCGTGCGCCGCCGTGCTGGTTAATTTTTAACAGAGTCTCGCTGTGTTGCCAAGGCTGGTGTCAAACCCCTGGCCTCAAGTGATCCCCACCCACCTCTCCTTCCAAGAGCGTTCTCTTTTTTTTTTTTTTGAGACAGTCTCACTCTATCCCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAACCACCATCTCCCAGGTTCAAGTGATTGTCCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCGTCTTGCCTGGCTAATTTTTGTAT... | benign | 258,960 |
Variant in SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin), chromosome 16, position 89548000—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_spastic_paraplegia_7'] | AAGCTGAGGAGCTAGGACTACTATGGGCGTGCGCCGCCGTGCTGGTTAATTTTTAACAGAGTCTCGCTGTGTTGCCAAGGCTGGTGTCAAACCCCTGGCCTCAAGTGATCCCCACCCACCTCTCCTTCCAAGAGCGTTCTCTTTTTTTTTTTTTTGAGACAGTCTCACTCTATCCCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAACCACCATCTCCCAGGTTCAAGTGATTGTCCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCGTCTTGCCTGGCTAATTTTTGTATTTTAGTAGG... | AAGCTGAGGAGCTAGGACTACTATGGGCGTGCGCCGCCGTGCTGGTTAATTTTTAACAGAGTCTCGCTGTGTTGCCAAGGCTGGTGTCAAACCCCTGGCCTCAAGTGATCCCCACCCACCTCTCCTTCCAAGAGCGTTCTCTTTTTTTTTTTTTTGAGACAGTCTCACTCTATCCCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAACCACCATCTCCCAGGTTCAAGTGATTGTCCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCGTCTTGCCTGGCTAATTTTTGTATTTTAGTAGG... | pathogenic | 258,961 |
Variant chromosome 16, position 89548065, gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_7'] | GCTGTGTTGCCAAGGCTGGTGTCAAACCCCTGGCCTCAAGTGATCCCCACCCACCTCTCCTTCCAAGAGCGTTCTCTTTTTTTTTTTTTTGAGACAGTCTCACTCTATCCCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAACCACCATCTCCCAGGTTCAAGTGATTGTCCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCGTCTTGCCTGGCTAATTTTTGTATTTTAGTAGGGATGGGGTTTCACCGTGTTGGCCAGACTGCCCACTTCAGCCTCCCAAAGTGCTAGGATTACAGGT... | GCTGTGTTGCCAAGGCTGGTGTCAAACCCCTGGCCTCAAGTGATCCCCACCCACCTCTCCTTCCAAGAGCGTTCTCTTTTTTTTTTTTTTGAGACAGTCTCACTCTATCCCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAACCACCATCTCCCAGGTTCAAGTGATTGTCCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCGTCTTGCCTGGCTAATTTTTGTATTTTAGTAGGGATGGGGTTTCACCGTGTTGGCCAGACTGCCCACTTCAGCCTCCCAAAGTGCTAGGATTACAGGT... | pathogenic | 258,964 |
Chromosome 16, position 89550527, gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_spastic_paraplegia_7'] | GCCGCTGACTGTGGGCCGGAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATC... | GCCGCTGACTGTGGGCCGGAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATC... | pathogenic | 258,976 |
Is the chromosome 16, position 89553792 variant in SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_spastic_paraplegia_7'] | AGCTGGGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTT... | AGCTGGGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTT... | pathogenic | 259,000 |
Determine whether the variant at chromosome 16, position 89553852, in gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_7'] | TCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGA... | TCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGA... | pathogenic | 259,002 |
For chromosome 16, position 89553923, gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_spastic_paraplegia_7'] | AGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGG... | AGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGG... | pathogenic | 259,010 |
Assess the variant on chromosome 16, position 89553952, impacting SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_spastic_paraplegia_7', 'SPG7-related_disorder'] | AAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGA... | AAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGCATGCCCCACTGGTGGCTCGA... | pathogenic | 259,012 |
Variant chromosome 16, position 89554494, gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_spastic_paraplegia_7'] | CAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGCCTCAGCATCGTGGGGTTCTCATTGCTCTGAACCCTCAGTAGCTGTCGCTGGTGTGAGGGGTCAGCGCAGCGGCCATCGGGGGTGAAACTTGTCCTTCGCCTCTCAGCTGTCTTCTACGGGCCTTGTCTTCTTGACTCCCTGCCTGTCTAGTCATGTATGAGAAGACACTTCCC... | CAGCTGGGCCAGCCCCTGCCCCGTCTCCGTCCGTCTCCCACTCAGCGGTTCCGTGTTGTCGAGTTAGCTCGTTGCCCCGCGCCACCTCCTTGCACACCTGATGTGGGGCTGTGGGGGAGCAGCAGAGGTGAGGACAGCCTCTGCTGCCTCAGCATCGTGGGGTTCTCATTGCTCTGAACCCTCAGTAGCTGTCGCTGGTGTGAGGGGTCAGCGCAGCGGCCATCGGGGGTGAAACTTGTCCTTCGCCTCTCAGCTGTCTTCTACGGGCCTTGTCTTCTTGACTCCCTGCCTGTCTAGTCATGTATGAGAAGACACTTCCC... | pathogenic | 259,015 |
Gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin) variant at chromosome position 89556918 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_spastic_paraplegia_7'] | TTGAACATTTTTTTAAAACAAAGCTTTAATTTTAGAGTAGGAATTTTTTTTTCTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCT... | TTGAACATTTTTTTAAAACAAAGCTTTAATTTTAGAGTAGGAATTTTTTTTTCTTTTTTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCT... | pathogenic | 259,020 |
Is the genetic mutation found on chromosome 16 at position 89556975, within the gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_7'] | TTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCTCCTGTCTCAGCCTCCCAAGTGTCTGGGATTACAGGCACGCGTCACCATGCCCAGCTA... | TTTTTTTGAGACAAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCGATGGCGACATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACTGCAGGCATGCACCAACACACTCGGCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACGAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCCACCTCCACCTCCCCAGTTCAAGCATTCTCCTGTCTCAGCCTCCCAAGTGTCTGGGATTACAGGCACGCGTCACCATGCCCAGCTA... | pathogenic | 259,024 |
Variant at chromosome 16, position 89693307, gene CDK10 (cyclin dependent kinase 10): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Al_Kaissi_syndrome'] | TGGGCAACGAGCGAAACTCCGTCTCAAAAAAAAAAAAATGCTTATTGGGGTCGCCCCAATTCTCCCTGAGGTGGGGACACTGCAGCACCTGCTATCAGGTGTTCGTGAAGCCCAAGAGTGGCTGGGGTTGGGGCTTCCCCGCCATCACTGGGGTGGGGCTCGCTGAGGCCACCTCCCTCCCCAGGCATCCCCATCAGCAGCTTGCGGGAGATCACGCTGCTGCTCCGCCTGCGTCATCCGAACATCGTGGAGCTGAAGGAGGTGGTTGTGGGGAACCACCTGGAGAGGTACGTGGTCTCCTGGTCTGCACATTGGGCCCT... | TGGGCAACGAGCGAAACTCCGTCTCAAAAAAAAAAAAATGCTTATTGGGGTCGCCCCAATTCTCCCTGAGGTGGGGACACTGCAGCACCTGCTATCAGGTGTTCGTGAAGCCCAAGAGTGGCTGGGGTTGGGGCTTCCCCGCCATCACTGGGGTGGGGCTCGCTGAGGCCACCTCCCTCCCCAGGCATCCCCATCAGCAGCTTGCGGGAGATCACGCTGCTGCTCCGCCTGCGTCATCCGAACATCGTGGAGCTGAAGGAGGTGGTTGTGGGGAACCACCTGGAGAGGTACGTGGTCTCCTGGTCTGCACATTGGGCCCT... | pathogenic | 259,096 |
Determine whether the variant at chromosome 16, position 89694227, in gene CDK10 (cyclin dependent kinase 10) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Al_Kaissi_syndrome'] | GGGAGCGGGGAGCCCTGGGCGGAGAGCCTTCTGAGGGCACTGGTTTTCTGGGCTGCTGGGAGAGTGCAGCCCCGGGGCCAAGAGCCTTGTGAGGGCACTGGTTTCCTGGGCTGCTGGGAGCGTGCAGCCCCGGGGCCGAGAGCCTTCTGAGGGCACTGGTTTCCTGGGCTATTGGGACTGCTAGTCCTGCTGGCCAGTGTGGGTGTGGCAGGGCCCAGCTGGGCTTCCCTGCAGGCTCACCCTGACTGGTACCTCTGACCCTCTGCACAGGTCAAGTGCATCGTGCTGCAGGTGCTCCGGGGCCTCCAGTATCTGCACAG... | GGGAGCGGGGAGCCCTGGGCGGAGAGCCTTCTGAGGGCACTGGTTTTCTGGGCTGCTGGGAGAGTGCAGCCCCGGGGCCAAGAGCCTTGTGAGGGCACTGGTTTCCTGGGCTGCTGGGAGCGTGCAGCCCCGGGGCCGAGAGCCTTCTGAGGGCACTGGTTTCCTGGGCTATTGGGACTGCTAGTCCTGCTGGCCAGTGTGGGTGTGGCAGGGCCCAGCTGGGCTTCCCTGCAGGCTCACCCTGACTGGTACCTCTGACCCTCTGCACAGGTCAAGTGCATCGTGCTGCAGGTGCTCCGGGGCCTCCAGTATCTGCACAG... | pathogenic | 259,100 |
Regarding the variant at chromosome 16 and position 89694723, affecting gene CDK10 (cyclin dependent kinase 10): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Al_Kaissi_syndrome'] | CTCTGTGTTGCCCAGGCTGGTCTCACACACTTGGGCTCAAGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCACACCCAGGCATGCACTCCGATTTTTAAAAGGTCCAAACATCAACAGCATGTAAGAGTTAATGAAAAAAAAAATAATAAAGATACTACGCCGGGCACAGTGGCTCACGCCTGTGATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTTGTTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCC... | CTCTGTGTTGCCCAGGCTGGTCTCACACACTTGGGCTCAAGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACCACACCCAGGCATGCACTCCGATTTTTAAAAGGTCCAAACATCAACAGCATGTAAGAGTTAATGAAAAAAAAAATAATAAAGATACTACGCCGGGCACAGTGGCTCACGCCTGTGATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTTGTTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCC... | pathogenic | 259,101 |
Does the chromosome 16 mutation at position 89695007 within gene CDK10 (cyclin dependent kinase 10) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Al_Kaissi_syndrome', 'Inborn_genetic_diseases'] | AACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGGGATTGCTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGATACTAAAAAGCCCAAAGCTGAGGAAACGTGCAGGAAGTCTACGGGCATTGGTGCCGTGGGGGAGCTCTCAGCCCCTGTGGCCCTCTGGGAGCCACCTGCCACTGTTTTTCCATCACAGGGACC... | AACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGGGATTGCTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGATACTAAAAAGCCCAAAGCTGAGGAAACGTGCAGGAAGTCTACGGGCATTGGTGCCGTGGGGGAGCTCTCAGCCCCTGTGGCCCTCTGGGAGCCACCTGCCACTGTTTTTCCATCACAGGGACC... | pathogenic | 259,102 |
Gene FANCA variant at chromosome 16, position 89738693—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | ATTACCTGGGTGTGGTGGTGCACACCTGTGGTCCCAGCTACTTGAGAGGTTGAGGCAGGAGGATCACTTAAGCCTGGGAGTTCCAGGCTATAGTGAGCCATGATTGTACCATTGCACTTCAACCTGGGCAACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGAATCCCTTGAACCTGGGAGGTGGAGTTTCCAGTGAGCTGAGATTGGGCTGTTGCACTCCAGCCTGGGCAACAGAGCAAGACTCAAGTCTCAAAAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAA... | ATTACCTGGGTGTGGTGGTGCACACCTGTGGTCCCAGCTACTTGAGAGGTTGAGGCAGGAGGATCACTTAAGCCTGGGAGTTCCAGGCTATAGTGAGCCATGATTGTACCATTGCACTTCAACCTGGGCAACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAGAATCCCTTGAACCTGGGAGGTGGAGTTTCCAGTGAGCTGAGATTGGGCTGTTGCACTCCAGCCTGGGCAACAGAGCAAGACTCAAGTCTCAAAAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAA... | pathogenic | 259,121 |
Variant at chromosome 16, position 89738880, gene FANCA: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GAGGTGGAGTTTCCAGTGAGCTGAGATTGGGCTGTTGCACTCCAGCCTGGGCAACAGAGCAAGACTCAAGTCTCAAAAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAAGTCTGTCTTGTGAAGCGTTTCAGGGCTTGACAGATGTGGAGGCAGCACAGGGTGAGTGGGTCTGCATGTCCACATGTGGCATTTGTGGACTAGCAAGTGAGATCTCTTTGTTCAAGGGTGTGAGAAAGATTTCCAGAGCCAGTACAGCAATGCATACCCCCAGACCCTGGGTATGGACCCCTCTCAT... | GAGGTGGAGTTTCCAGTGAGCTGAGATTGGGCTGTTGCACTCCAGCCTGGGCAACAGAGCAAGACTCAAGTCTCAAAAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAAGTCTGTCTTGTGAAGCGTTTCAGGGCTTGACAGATGTGGAGGCAGCACAGGGTGAGTGGGTCTGCATGTCCACATGTGGCATTTGTGGACTAGCAAGTGAGATCTCTTTGTTCAAGGGTGTGAGAAAGATTTCCAGAGCCAGTACAGCAATGCATACCCCCAGACCCTGGGTATGGACCCCTCTCAT... | pathogenic | 259,127 |
The genetic variant at chromosome 16, position 89738884, affecting gene FANCA: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Fanconi_anemia_complementation_group_A'] | TGGAGTTTCCAGTGAGCTGAGATTGGGCTGTTGCACTCCAGCCTGGGCAACAGAGCAAGACTCAAGTCTCAAAAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAAGTCTGTCTTGTGAAGCGTTTCAGGGCTTGACAGATGTGGAGGCAGCACAGGGTGAGTGGGTCTGCATGTCCACATGTGGCATTTGTGGACTAGCAAGTGAGATCTCTTTGTTCAAGGGTGTGAGAAAGATTTCCAGAGCCAGTACAGCAATGCATACCCCCAGACCCTGGGTATGGACCCCTCTCATATGG... | TGGAGTTTCCAGTGAGCTGAGATTGGGCTGTTGCACTCCAGCCTGGGCAACAGAGCAAGACTCAAGTCTCAAAAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAAGTCTGTCTTGTGAAGCGTTTCAGGGCTTGACAGATGTGGAGGCAGCACAGGGTGAGTGGGTCTGCATGTCCACATGTGGCATTTGTGGACTAGCAAGTGAGATCTCTTTGTTCAAGGGTGTGAGAAAGATTTCCAGAGCCAGTACAGCAATGCATACCCCCAGACCCTGGGTATGGACCCCTCTCATATGG... | pathogenic | 259,129 |
Determine if the mutation at chromosome 16, position 89738956 in gene FANCA is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi_anemia'] | AAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAAGTCTGTCTTGTGAAGCGTTTCAGGGCTTGACAGATGTGGAGGCAGCACAGGGTGAGTGGGTCTGCATGTCCACATGTGGCATTTGTGGACTAGCAAGTGAGATCTCTTTGTTCAAGGGTGTGAGAAAGATTTCCAGAGCCAGTACAGCAATGCATACCCCCAGACCCTGGGTATGGACCCCTCTCATATGGAGATGAATTCTAGAGAACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTT... | AAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAAGTCTGTCTTGTGAAGCGTTTCAGGGCTTGACAGATGTGGAGGCAGCACAGGGTGAGTGGGTCTGCATGTCCACATGTGGCATTTGTGGACTAGCAAGTGAGATCTCTTTGTTCAAGGGTGTGAGAAAGATTTCCAGAGCCAGTACAGCAATGCATACCCCCAGACCCTGGGTATGGACCCCTCTCATATGGAGATGAATTCTAGAGAACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTT... | pathogenic | 259,139 |
Variant in gene FANCA, located at chromosome 16 position 89739174: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | AGACCCTGGGTATGGACCCCTCTCATATGGAGATGAATTCTAGAGAACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCT... | AGACCCTGGGTATGGACCCCTCTCATATGGAGATGAATTCTAGAGAACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCT... | pathogenic | 259,145 |
Determine whether the variant at chromosome 16, position 89739217, in gene FANCA is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | AGAACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACT... | AGAACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACT... | pathogenic | 259,149 |
Is the variant located on chromosome 16 at position 89739278, gene FANCA, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | AGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGT... | AGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGT... | pathogenic | 259,155 |
Mutation found at chromosome 16 position 89739284, gene FANCA: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | TGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGA... | TGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGA... | pathogenic | 259,156 |
Is the variant located on chromosome 16 at position 89739290, gene FANCA, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGC... | CCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGC... | pathogenic | 259,158 |
Located at chromosome 16 position 89739459, the variant affecting gene FANCA—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['FANCA-related_disorder', 'Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGT... | CTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGT... | pathogenic | 259,160 |
Assess the variant on chromosome 16, position 89739514, impacting FANCA: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | AGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTC... | AGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTC... | pathogenic | 259,163 |
Is the genetic variant on chromosome 16, position 89739995, gene FANCA, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['FANCA-related_disorder', 'Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGC... | GCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGC... | pathogenic | 259,178 |
For chromosome 16, position 89739995, gene FANCA: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGC... | GCACCTTCTTATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGC... | pathogenic | 259,179 |
Clinical classification of chromosome 16, position 89740004, gene FANCA: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | TATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGC... | TATCTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGC... | pathogenic | 259,180 |
Assess the variant on chromosome 16, position 89740007, impacting FANCA: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGC... | CTGCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGC... | pathogenic | 259,182 |
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