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 |
|---|---|---|---|---|---|
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 4899386, gene CHRNE. What disease(s) is it linked to if pathogenic? | benign | AGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTG... | AGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTG... | benign | 261,344 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 4899474, gene CHRNE (cholinergic receptor nicotinic epsilon subunit): what disease(s) if pathogenic? | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | CCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCAC... | CCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCAC... | pathogenic | 261,348 |
Is the genetic mutation found on chromosome 17 at position 4899491, within the gene CHRNE (cholinergic receptor nicotinic epsilon subunit), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | TTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCA... | TTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCA... | pathogenic | 261,350 |
The mutation in gene CHRNE (cholinergic receptor nicotinic epsilon subunit) at chromosome 17, position 4899528—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B', 'Congenital_myasthenic_syndrome_4C'] | CCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCT... | CCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCT... | pathogenic | 261,354 |
Clinical significance of chromosome 17, position 4899563, gene CHRNE: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B', 'Congenital_myasthenic_syndrome_4C'] | GGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCTTCCCCCAAACTCCAGGGAATGGAGGGGGGACCCCG... | GGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCTGCTGACTGGGCAGGGCCCTGGACCCCTTTATTTGCACGTCAGGGGAGCCGGCTCCCCCCTTGAATGTACCAGACCCTGGGGGGGGTCACTGGGCCCTAGATTTTTGGGGGGTCACCAGCCACTCCAGGGGCAGGGACCATTTCTTCATTTTCTGAAAGCACTTTAATGATTCCCCTTCCCCCAAACTCCAGGGAATGGAGGGGGGACCCCG... | pathogenic | 261,358 |
Assess the variant on chromosome 17, position 4900822, impacting CHRNE: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | CTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCT... | CTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCT... | pathogenic | 261,365 |
The mutation impacting CHRNE on chromosome 17 at position 4900843: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | GGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGG... | GGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGG... | pathogenic | 261,367 |
Mutation at chromosome 17, position 4900857, within CHRNE: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B', 'Congenital_myasthenic_syndrome_4C'] | GAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGG... | GAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGG... | pathogenic | 261,369 |
Clinically, how would you classify the variant at chromosome 17, position 4900997, gene CHRNE: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B', 'Congenital_myasthenic_syndrome_4C'] | AGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGC... | AGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGC... | pathogenic | 261,374 |
Variant at chromosome 17, position 4901104, gene CHRNE: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | ACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTC... | ACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTC... | pathogenic | 261,379 |
Located at chromosome 17 position 4901156, the variant affecting gene CHRNE—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | CTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGC... | CTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGC... | pathogenic | 261,380 |
Determine if the mutation at chromosome 17, position 4901171 in gene CHRNE is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B', 'Congenital_myasthenic_syndrome_4C'] | CCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGG... | CCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGAGCCCAGGAGGCGCGGCAGCAGCTCCAGGAGAACCTGGGGCAGGGGCGGGGCTTAGGGGACGAGGTTAGTACGAAGCCCCACCCCGACCCGG... | pathogenic | 261,381 |
The chromosome 17, position 4901556 genetic variant in gene CHRNE: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B', 'Congenital_myasthenic_syndrome_4C'] | CGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGA... | CGCTGGGACACGTTGAGCACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGA... | pathogenic | 261,384 |
Gene mutation in CHRNE at chromosome 17, position 4901574—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['CHRNE-related_disorder', 'Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_4A'] | ACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCC... | ACGATGACGCAATTCATGACAATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCC... | pathogenic | 261,386 |
Is the genetic change at chromosome 17, position 4901594, within gene CHRNE benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | AATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACC... | AATGAGCGTGGCGACCACCATGACGAAAATAAGGAACCTGAGGAGCCCGGAAGGCATGACATCACCGTTCCTCCTCCCAGCTACCGAAGGCGCCGCGCGCTGACCTCACAAACACGGCTTCTCCTGGTACGGGCTGGTTACGCCCTCCAGCTGCGCCCCCTACACGACGACAGACGCGTCCCCCAGCCCTTCTCCTGTCCTACCACTTGTGGCGGCCATGAAGGGGACCCCCAGCTCCCTGGACACCCTGATGTGGATCTACCACTTCCACAGCTCCACCGAGGTGAGGCTACGCCCGCCAAGGGCTGCACCTCGAGACC... | pathogenic | 261,388 |
Mutation at chromosome 17, position 4901972, within CHRNE: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4C'] | CTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAG... | CTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAG... | pathogenic | 261,397 |
Located at chromosome 17 position 4901974, the variant affecting gene CHRNE—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B', 'Congenital_myasthenic_syndrome_4C'] | CCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCC... | CCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCC... | pathogenic | 261,398 |
Gene mutation in CHRNE at chromosome 17, position 4902464—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B', 'Congenital_myasthenic_syndrome_4C'] | GCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTT... | GCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTT... | pathogenic | 261,414 |
The chromosome 17, position 4902473 genetic variant in gene CHRNE: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B'] | GTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACG... | GTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACG... | pathogenic | 261,415 |
Is the chromosome 17, position 4902622 variant in CHRNE clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Abnormality_of_the_musculature', 'Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_4A'] | TGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCA... | TGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCA... | pathogenic | 261,416 |
Gene CHRNE variant at chromosome position 4902679 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Abnormality_of_the_musculature', 'Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B', 'Congenital_myasthenic_syndrome_4C', 'Slow-Channel_Congenital_Myasthenia_Syndrome'] | GGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGC... | GGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGC... | pathogenic | 261,418 |
Benign or pathogenic: chromosome 17, position 4902694, gene CHRNE variant? Disease(s) if pathogenic? | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | GACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGG... | GACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGGGTTTTGGCCACGCCCCCACCCTTCACACTGGCCACACCCCCGCGGGGGCTCCGGCTTCACCTGCCCAGGAGCGGCACGCTCAGAGAAGTCTCTGGGATTTTCTGGGCAATGAGGAACAAGAAGACGGTCTGGGCGAGCAGGACGTTGATGGAGACCGTGCATTTCTGGCCGCCGGCTGGAGGGAGAGCCAGTGAGAGCGGGCCCCGCCTCCCGGGAGCGAGCCCGGGTTTGGG... | pathogenic | 261,419 |
Considering the variant on chromosome 17, location 4932706, involving gene GP1BA (glycoprotein Ib platelet subunit alpha), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Bernard_Soulier_syndrome'] | TGGGAGACAGGGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAAGGAGGAAGAGGAGGAAGAAGAAGAGGAGGAGGAGGATATGAACAAGAAACAACAACAACCTTGGACTAGGAATGCTGGCAGGATGGTGTGGATGGAGAGTAGATTTGAGAGAGACGGGAGATAAAATCACCAGGACTTGGTGATGGGGATGAAAGACGGGAGACGTTAGAGATGACTATTAGGGATTTTGTTTGTGTTGACTGAATGGTTAGGTAAATGAGTGGATGATGGTGCCACTCACCAGGCTGAGCAACACA... | TGGGAGACAGGGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAAGGAGGAAGAGGAGGAAGAAGAAGAGGAGGAGGAGGATATGAACAAGAAACAACAACAACCTTGGACTAGGAATGCTGGCAGGATGGTGTGGATGGAGAGTAGATTTGAGAGAGACGGGAGATAAAATCACCAGGACTTGGTGATGGGGATGAAAGACGGGAGACGTTAGAGATGACTATTAGGGATTTTGTTTGTGTTGACTGAATGGTTAGGTAAATGAGTGGATGATGGTGCCACTCACCAGGCTGAGCAACACA... | pathogenic | 261,429 |
Gene mutation in GP1BA (glycoprotein Ib platelet subunit alpha) at chromosome 17, position 4932764—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Bernard_Soulier_syndrome'] | AGAAAGGAGGAAGAGGAGGAAGAAGAAGAGGAGGAGGAGGATATGAACAAGAAACAACAACAACCTTGGACTAGGAATGCTGGCAGGATGGTGTGGATGGAGAGTAGATTTGAGAGAGACGGGAGATAAAATCACCAGGACTTGGTGATGGGGATGAAAGACGGGAGACGTTAGAGATGACTATTAGGGATTTTGTTTGTGTTGACTGAATGGTTAGGTAAATGAGTGGATGATGGTGCCACTCACCAGGCTGAGCAACACAGGAGGAGAAGCCATTTGGAGAGAGATGGTGAGTTCAGCTTTGAACATATTGTTTTGGT... | AGAAAGGAGGAAGAGGAGGAAGAAGAAGAGGAGGAGGAGGATATGAACAAGAAACAACAACAACCTTGGACTAGGAATGCTGGCAGGATGGTGTGGATGGAGAGTAGATTTGAGAGAGACGGGAGATAAAATCACCAGGACTTGGTGATGGGGATGAAAGACGGGAGACGTTAGAGATGACTATTAGGGATTTTGTTTGTGTTGACTGAATGGTTAGGTAAATGAGTGGATGATGGTGCCACTCACCAGGCTGAGCAACACAGGAGGAGAAGCCATTTGGAGAGAGATGGTGAGTTCAGCTTTGAACATATTGTTTTGGT... | pathogenic | 261,431 |
Is chromosome 17, position 4933543, gene GP1BA (glycoprotein Ib platelet subunit alpha) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bernard_Soulier_syndrome'] | AGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAA... | AGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAA... | pathogenic | 261,448 |
Is the genetic mutation found on chromosome 17 at position 4933666, within the gene GP1BA (glycoprotein Ib platelet subunit alpha), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bernard_Soulier_syndrome'] | AAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTT... | AAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTT... | pathogenic | 261,451 |
Does the variant impacting GP1BA (glycoprotein Ib platelet subunit alpha) on chromosome 17, position 4933876, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCAC... | GCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCAC... | benign | 261,455 |
A mutation at chromosome position 4933907 on chromosome 17 in gene GP1BA (glycoprotein Ib platelet subunit alpha): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGA... | TCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGA... | benign | 261,456 |
Clinical classification of chromosome 17, position 4933915, gene GP1BA (glycoprotein Ib platelet subunit alpha): benign or pathogenic? Disease(s) if pathogenic? | benign | TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAA... | TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAA... | benign | 261,459 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 4933925, gene GP1BA (glycoprotein Ib platelet subunit alpha): what disease(s) if pathogenic? | benign | TCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGT... | TCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGT... | benign | 261,460 |
Evaluate this variant at chromosome 17, position 4934057, gene GP1BA (glycoprotein Ib platelet subunit alpha): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Bernard_Soulier_syndrome'] | CAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGA... | CAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGA... | pathogenic | 261,462 |
Chromosome 17, position 4934077, gene GP1BA (glycoprotein Ib platelet subunit alpha): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Bernard-Soulier_syndrome,_type_A2,_autosomal_dominant', 'Bernard_Soulier_syndrome', 'Nonarteritic_anterior_ischemic_optic_neuropathy,_susceptibility_to', 'Pseudo_von_Willebrand_disease'] | ATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGA... | ATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGA... | pathogenic | 261,463 |
Chromosome 17, position 4934203, gene GP1BA (glycoprotein Ib platelet subunit alpha): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bernard-Soulier_syndrome,_type_A2,_autosomal_dominant', 'Bernard_Soulier_syndrome', 'GP1BA-related_disorder', 'Nonarteritic_anterior_ischemic_optic_neuropathy,_susceptibility_to', 'Pseudo_von_Willebrand_disease'] | GCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAG... | GCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAG... | pathogenic | 261,464 |
Determine whether the variant at chromosome 17, position 4934448, in gene GP1BA is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGA... | TCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGA... | benign | 261,466 |
Located at chromosome 17 position 4946633, the variant affecting gene PFN1 (profilin 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_18', 'Neurodegeneration'] | GCCTGGATGAATATGAGGATGGGGACAAGCTGCGGGTACTCCCCTGTGCTCATGGTGAGGCCCTCACTGCCTGCCCATGCCCCTCTGCCACCAGCAGCCACCAGGTGCTTCACCTTGTTCCTCTCTGCAGCCTACCACAGCCGCTGCGTGGACCCCTGGCTCACTCAGACCCGGAAGACCTGCCCCATTTGCAAGCAGCCTGTTCATCGGGGTCCTGGGGACGAAGACCAAGAGGAAGAAACTCAAGGGCAAGAGGAGGGTGATGAAGGGGAGCCAAGGGACCACCCTGCCTCAGAAAGGACCCCACTTTTGGGTTCTAG... | GCCTGGATGAATATGAGGATGGGGACAAGCTGCGGGTACTCCCCTGTGCTCATGGTGAGGCCCTCACTGCCTGCCCATGCCCCTCTGCCACCAGCAGCCACCAGGTGCTTCACCTTGTTCCTCTCTGCAGCCTACCACAGCCGCTGCGTGGACCCCTGGCTCACTCAGACCCGGAAGACCTGCCCCATTTGCAAGCAGCCTGTTCATCGGGGTCCTGGGGACGAAGACCAAGAGGAAGAAACTCAAGGGCAAGAGGAGGGTGATGAAGGGGAGCCAAGGGACCACCCTGCCTCAGAAAGGACCCCACTTTTGGGTTCTAG... | pathogenic | 261,478 |
The mutation in gene KIF1C (kinesin family member 1C) at chromosome 17, position 5002851—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCCCAAAAGCTTCACCTTTGACTACTCCTACTGGTCACACACTTCGGTGGGTTGTTGGGCTGGGGGAAGAGCAAGGCAGTGAGAGACAGAGGATTTAGGTCCTGGGGAGGGGACATGTTAAGAAATAGGACCCCCAGGGGATTAGTCAGGGTGAATTGGGAGGATGATCCTGGGTGGGGGTGGTAGGACCCTTAGGCTGTGATTGAGGCCTCGACAGGAAGGCGGAATCCCTTGGGGTAATTAGGACTAGCAGGGGCTGGATAGGATCCTTGGGGTGGTAAGGACAATGATGAGGGTGGGAGGGCACACAGGACATTTGG... | CCCCAAAAGCTTCACCTTTGACTACTCCTACTGGTCACACACTTCGGTGGGTTGTTGGGCTGGGGGAAGAGCAAGGCAGTGAGAGACAGAGGATTTAGGTCCTGGGGAGGGGACATGTTAAGAAATAGGACCCCCAGGGGATTAGTCAGGGTGAATTGGGAGGATGATCCTGGGTGGGGGTGGTAGGACCCTTAGGCTGTGATTGAGGCCTCGACAGGAAGGCGGAATCCCTTGGGGTAATTAGGACTAGCAGGGGCTGGATAGGATCCTTGGGGTGGTAAGGACAATGATGAGGGTGGGAGGGCACACAGGACATTTGG... | benign | 261,540 |
Evaluate if the mutation on chromosome 17 at position 5002851 in KIF1C (kinesin family member 1C) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CCCCAAAAGCTTCACCTTTGACTACTCCTACTGGTCACACACTTCGGTGGGTTGTTGGGCTGGGGGAAGAGCAAGGCAGTGAGAGACAGAGGATTTAGGTCCTGGGGAGGGGACATGTTAAGAAATAGGACCCCCAGGGGATTAGTCAGGGTGAATTGGGAGGATGATCCTGGGTGGGGGTGGTAGGACCCTTAGGCTGTGATTGAGGCCTCGACAGGAAGGCGGAATCCCTTGGGGTAATTAGGACTAGCAGGGGCTGGATAGGATCCTTGGGGTGGTAAGGACAATGATGAGGGTGGGAGGGCACACAGGACATTTGG... | CCCCAAAAGCTTCACCTTTGACTACTCCTACTGGTCACACACTTCGGTGGGTTGTTGGGCTGGGGGAAGAGCAAGGCAGTGAGAGACAGAGGATTTAGGTCCTGGGGAGGGGACATGTTAAGAAATAGGACCCCCAGGGGATTAGTCAGGGTGAATTGGGAGGATGATCCTGGGTGGGGGTGGTAGGACCCTTAGGCTGTGATTGAGGCCTCGACAGGAAGGCGGAATCCCTTGGGGTAATTAGGACTAGCAGGGGCTGGATAGGATCCTTGGGGTGGTAAGGACAATGATGAGGGTGGGAGGGCACACAGGACATTTGG... | benign | 261,541 |
A genetic alteration at chromosome 17, position 5002851, in gene KIF1C (kinesin family member 1C)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CCCCAAAAGCTTCACCTTTGACTACTCCTACTGGTCACACACTTCGGTGGGTTGTTGGGCTGGGGGAAGAGCAAGGCAGTGAGAGACAGAGGATTTAGGTCCTGGGGAGGGGACATGTTAAGAAATAGGACCCCCAGGGGATTAGTCAGGGTGAATTGGGAGGATGATCCTGGGTGGGGGTGGTAGGACCCTTAGGCTGTGATTGAGGCCTCGACAGGAAGGCGGAATCCCTTGGGGTAATTAGGACTAGCAGGGGCTGGATAGGATCCTTGGGGTGGTAAGGACAATGATGAGGGTGGGAGGGCACACAGGACATTTGG... | CCCCAAAAGCTTCACCTTTGACTACTCCTACTGGTCACACACTTCGGTGGGTTGTTGGGCTGGGGGAAGAGCAAGGCAGTGAGAGACAGAGGATTTAGGTCCTGGGGAGGGGACATGTTAAGAAATAGGACCCCCAGGGGATTAGTCAGGGTGAATTGGGAGGATGATCCTGGGTGGGGGTGGTAGGACCCTTAGGCTGTGATTGAGGCCTCGACAGGAAGGCGGAATCCCTTGGGGTAATTAGGACTAGCAGGGGCTGGATAGGATCCTTGGGGTGGTAAGGACAATGATGAGGGTGGGAGGGCACACAGGACATTTGG... | benign | 261,542 |
Determine whether the variant at chromosome 17, position 5002851, in gene KIF1C (kinesin family member 1C) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CCCCAAAAGCTTCACCTTTGACTACTCCTACTGGTCACACACTTCGGTGGGTTGTTGGGCTGGGGGAAGAGCAAGGCAGTGAGAGACAGAGGATTTAGGTCCTGGGGAGGGGACATGTTAAGAAATAGGACCCCCAGGGGATTAGTCAGGGTGAATTGGGAGGATGATCCTGGGTGGGGGTGGTAGGACCCTTAGGCTGTGATTGAGGCCTCGACAGGAAGGCGGAATCCCTTGGGGTAATTAGGACTAGCAGGGGCTGGATAGGATCCTTGGGGTGGTAAGGACAATGATGAGGGTGGGAGGGCACACAGGACATTTGG... | CCCCAAAAGCTTCACCTTTGACTACTCCTACTGGTCACACACTTCGGTGGGTTGTTGGGCTGGGGGAAGAGCAAGGCAGTGAGAGACAGAGGATTTAGGTCCTGGGGAGGGGACATGTTAAGAAATAGGACCCCCAGGGGATTAGTCAGGGTGAATTGGGAGGATGATCCTGGGTGGGGGTGGTAGGACCCTTAGGCTGTGATTGAGGCCTCGACAGGAAGGCGGAATCCCTTGGGGTAATTAGGACTAGCAGGGGCTGGATAGGATCCTTGGGGTGGTAAGGACAATGATGAGGGTGGGAGGGCACACAGGACATTTGG... | benign | 261,543 |
Does the chromosome 17 mutation at position 5020081 within gene KIF1C classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TGCAGTGGCATGATCATGGTTCACTGTAGCCTCAACCTCCCGGGTTAAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGACCTGTGCCACCACACCTGGCTAATTTTTGTACTTTTCGTACAGACAGGGTTTTACTGTGTTGCCCAGGCTGGTCTCAAAGTCCTGAGCTCAAGCAGTCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAACCCTATTCCCTTTAGAGAGGACTTTAGATTATCTGCTTTTAAAAATATTAATAGAATTAAATGCCTTTTTCCCC... | TGCAGTGGCATGATCATGGTTCACTGTAGCCTCAACCTCCCGGGTTAAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGACCTGTGCCACCACACCTGGCTAATTTTTGTACTTTTCGTACAGACAGGGTTTTACTGTGTTGCCCAGGCTGGTCTCAAAGTCCTGAGCTCAAGCAGTCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAACCCTATTCCCTTTAGAGAGGACTTTAGATTATCTGCTTTTAAAAATATTAATAGAATTAAATGCCTTTTTCCCC... | benign | 261,568 |
Does the genetic variant at chromosome 17, position 5020474, impacting gene KIF1C, appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGCGGGTGGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGAGGTTGCAGTGAGCTGAGATCGCACCATTGCACTCCAGCCTCCAACAAGAGTTTCACTCCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAGAAAAAAGAAAAGCCATCCATCACGATTAA... | GGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGCGGGTGGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGAGGTTGCAGTGAGCTGAGATCGCACCATTGCACTCCAGCCTCCAACAAGAGTTTCACTCCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAGAAAAAAGAAAAGCCATCCATCACGATTAA... | benign | 261,570 |
Clinically, how would you classify the variant at chromosome 17, position 5022558, gene KIF1C (kinesin family member 1C): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Spastic_ataxia_2'] | GCAAGAACCACGTTTTCCGCTTCAACCACCCGGAGCAGGCAAGGCTGGAACGGGAACGAGGGGTCCCCCCACCCCCAGGACCGCCCTCTGAGCCAGTCGACTGGAACTTTGCCCAGAAGGAACTGCTGGAGCAGCAAGGCATCGACATAAAGCTGGAAATGGAGAAGAGGTGCGAGGGGGTTACCCACGTGCCCCATGGCCGTCTAGGCCGTCCCTCCCGGGCCTCTGGGCCCGTGTCCTCCTCTTGTCAGATACTCACCAAGGTTGCTCTTCCTTCCCTCCCTGTCCAATCCCAGGCTGCAGGATCTGGAGAATCAGTA... | GCAAGAACCACGTTTTCCGCTTCAACCACCCGGAGCAGGCAAGGCTGGAACGGGAACGAGGGGTCCCCCCACCCCCAGGACCGCCCTCTGAGCCAGTCGACTGGAACTTTGCCCAGAAGGAACTGCTGGAGCAGCAAGGCATCGACATAAAGCTGGAAATGGAGAAGAGGTGCGAGGGGGTTACCCACGTGCCCCATGGCCGTCTAGGCCGTCCCTCCCGGGCCTCTGGGCCCGTGTCCTCCTCTTGTCAGATACTCACCAAGGTTGCTCTTCCTTCCCTCCCTGTCCAATCCCAGGCTGCAGGATCTGGAGAATCAGTA... | pathogenic | 261,588 |
A genetic variant on chromosome 17, position 5434981, affects the gene C1QBP (complement C1q binding protein). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AAGCACATGTCTAGCTTCAGAGTAGGATTTGTTCACTGGCCAAAGCCTGCCATGAAACTATGGCTTTCAGCATCTGTCTGCTCTACTGGCTCTTGACAAAACTCTTGAGGTCTTCAAGAAAAGTAATGTACTCCTGGTGCTCCAGGGCTGTGCTGAGCTCCACCAGCTCATCTGCAAAAGTGTTGTCCACCCCTCGGTCGGCAAGGAAATCCATTAGGTGGTCATATAAGGCCTGCAAAGAACAATATTTACTAGTTAAAAAAAAATCTGTAATGAACATTAAAATGCTTTTTTCTCCCCTTGAACTAGGACCCTTCCTT... | AAGCACATGTCTAGCTTCAGAGTAGGATTTGTTCACTGGCCAAAGCCTGCCATGAAACTATGGCTTTCAGCATCTGTCTGCTCTACTGGCTCTTGACAAAACTCTTGAGGTCTTCAAGAAAAGTAATGTACTCCTGGTGCTCCAGGGCTGTGCTGAGCTCCACCAGCTCATCTGCAAAAGTGTTGTCCACCCCTCGGTCGGCAAGGAAATCCATTAGGTGGTCATATAAGGCCTGCAAAGAACAATATTTACTAGTTAAAAAAAAATCTGTAATGAACATTAAAATGCTTTTTTCTCCCCTTGAACTAGGACCCTTCCTT... | benign | 261,649 |
The mutation impacting NLRP1 (NLR family pyrin domain containing 1) on chromosome 17 at position 5521756: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAAGTGCTGGGATTATAGGCGTGACCCACTGCGCCTGGCCCATAATGGCCTTTTGACTTGTCTCTCTGCTTTCACTCTTGCCTGCTTATCATTCGTTCTCACCCAGCAGCCAGAGGCATCTTTATGAAAGTAAATCAGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTATCACCTAGGCTGGAGTGCAGTGGTGCACTCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGCATTACAGGCATACACCACCACACCCAGCTAATTTT... | AAAGTGCTGGGATTATAGGCGTGACCCACTGCGCCTGGCCCATAATGGCCTTTTGACTTGTCTCTCTGCTTTCACTCTTGCCTGCTTATCATTCGTTCTCACCCAGCAGCCAGAGGCATCTTTATGAAAGTAAATCAGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTATCACCTAGGCTGGAGTGCAGTGGTGCACTCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGCATTACAGGCATACACCACCACACCCAGCTAATTTT... | benign | 261,666 |
The mutation impacting AIPL1 (AIP like 1 HSP90 co-chaperone) on chromosome 17 at position 6425307: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTCGAGAGCAGCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACAGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGGAGGTTGCAGTGAGCCGAGATCAAGCCAGTGCATTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAATGAAAAAGAAAAAAGGAAGAGGAGAAGAGAAGAAAAA... | TCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTCGAGAGCAGCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCACAGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGGAGGTTGCAGTGAGCCGAGATCAAGCCAGTGCATTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAATGAAAAAGAAAAAAGGAAGAGGAGAAGAGAAGAAAAA... | benign | 261,735 |
Gene mutation in AIPL1 (AIP like 1 HSP90 co-chaperone) at chromosome 17, position 6425603—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Leber_congenital_amaurosis_4'] | AGGAAGAGGAGAAGAGAAGAAAAACATAAAACACTGCCATGTTAAAATGTACATTATCACTCCAGATGCCAGAAATATCCTCATTCTGGTGTCCCAGGGGTCACGAAATTGGAACCACAGAGAAAGCAATGCAGTGGAAGCATTGCGCTGGGCCCTGTGGGGAAACACACCTACACAGCCACAATCATGCAAATGCTGTTTATTGATTTTCAGATTGTAGAATCAACCTATGGACAAAGCACAGAAGATTTAGTTTTGCTTACAGAGCAGAAGGTAGATGTTAACAACAAGGAAGATGGAAAAGTAAAGTACATCAGAAC... | AGGAAGAGGAGAAGAGAAGAAAAACATAAAACACTGCCATGTTAAAATGTACATTATCACTCCAGATGCCAGAAATATCCTCATTCTGGTGTCCCAGGGGTCACGAAATTGGAACCACAGAGAAAGCAATGCAGTGGAAGCATTGCGCTGGGCCCTGTGGGGAAACACACCTACACAGCCACAATCATGCAAATGCTGTTTATTGATTTTCAGATTGTAGAATCAACCTATGGACAAAGCACAGAAGATTTAGTTTTGCTTACAGAGCAGAAGGTAGATGTTAACAACAAGGAAGATGGAAAAGTAAAGTACATCAGAAC... | pathogenic | 261,738 |
The mutation impacting AIPL1 (AIP like 1 HSP90 co-chaperone) on chromosome 17 at position 6426925: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Leber_congenital_amaurosis_4'] | TTCTACCCTACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAA... | TTCTACCCTACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAA... | pathogenic | 261,749 |
Is the chromosome 17, position 6428488 variant in AIPL1 (AIP like 1 HSP90 co-chaperone) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_4', 'Retinitis_pigmentosa'] | CACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTG... | CACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTG... | pathogenic | 261,759 |
Is the genetic change at chromosome 17, position 6435070, within gene AIPL1 (AIP like 1 HSP90 co-chaperone) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_4'] | ACCAGCCGCGGGTTGATGGTGGCCGGCACTGGGTGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATA... | ACCAGCCGCGGGTTGATGGTGGCCGGCACTGGGTGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATA... | pathogenic | 261,770 |
Mutation at chromosome 17, position 6452943, within PITPNM3 (PITPNM family member 3): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CTCAGTGCAGAGCACTGTGGATGTGCCAGGAGGGGTAGCCCTGTTCAAGAGCAATTTCTGCCCTTTGTAAATTATTTAAGAAACCTGCTTTGTCATTTTATTAGAAAGAAACCAGCGTGTGACTTTCCTAGATAACACTGCTTTCTCATAATAAAGACTATTTGCATTTGACATCTGTTCCCTTTCACCGGCAACCTCCAACCTCCCCCGCCCTCCCACACCACTCTGGGCTATAGATTTGTAATTTGTGGTTTGGGGTCTGGCCCTCATCCACCTCTGCTCCGAGCCAGTCTGCCCCCAATCCCACCCCAGGGAGAACA... | CTCAGTGCAGAGCACTGTGGATGTGCCAGGAGGGGTAGCCCTGTTCAAGAGCAATTTCTGCCCTTTGTAAATTATTTAAGAAACCTGCTTTGTCATTTTATTAGAAAGAAACCAGCGTGTGACTTTCCTAGATAACACTGCTTTCTCATAATAAAGACTATTTGCATTTGACATCTGTTCCCTTTCACCGGCAACCTCCAACCTCCCCCGCCCTCCCACACCACTCTGGGCTATAGATTTGTAATTTGTGGTTTGGGGTCTGGCCCTCATCCACCTCTGCTCCGAGCCAGTCTGCCCCCAATCCCACCCCAGGGAGAACA... | benign | 261,777 |
Located at chromosome 17 position 6455647, the variant affecting gene PITPNM3 (PITPNM family member 3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TGGGGAGAGCAGGGATGGGGGTTAGGAGCCCAGACCCCTCCAGCCCCAGGAGGGCACCCAATTTGCCAGGCAATTCACAACGGCGGTGCCAGCCGCCCCCACCAGCAGCGTCACTGGCTGCATGGGAGCCGCGAGAGGTAGACATTGAGCAGAAGCGACACTGAGCTGACACAGGTGCCTGCTGTGTATACAGACGTCTGGGCCCTGGGGCAGCCTGGCTGAAATTGCTGGGACCGGCCTTGATGGCAGCCTATGGGGGCTCAGTGGCCACGTGGGCAGCCCCACACAGCAGGTGTGGGCCTGGGCCAGGGAGTCGGGGT... | TGGGGAGAGCAGGGATGGGGGTTAGGAGCCCAGACCCCTCCAGCCCCAGGAGGGCACCCAATTTGCCAGGCAATTCACAACGGCGGTGCCAGCCGCCCCCACCAGCAGCGTCACTGGCTGCATGGGAGCCGCGAGAGGTAGACATTGAGCAGAAGCGACACTGAGCTGACACAGGTGCCTGCTGTGTATACAGACGTCTGGGCCCTGGGGCAGCCTGGCTGAAATTGCTGGGACCGGCCTTGATGGCAGCCTATGGGGGCTCAGTGGCCACGTGGGCAGCCCCACACAGCAGGTGTGGGCCTGGGCCAGGGAGTCGGGGT... | benign | 261,787 |
Variant in PITPNM3 (PITPNM family member 3), chromosome 17, position 6461568—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ACTACCCTAAGCCATATCAGGTCCCGTGGCTGTATCAGCCTTGACATGTCCACAGCTGAGCTCATCTCCCTCCAGCCTGGTCCTCCTCTCATGTCCCCTCTCATTCACTCACTCATTCATTTATTCATTCTACCAACATTTATGGAGTCCCTACCATGTGGCATCATCACCCCCAATGCAGAAGCTATATTGGTGAGCAGAACGGACAGGCTCTGCCTCCATGGAGACCTTGGTCAGGTGTGTAGCACCTGGATCCCTCCTGGTCACCCAGCACGGGCATCTTAGAACTCCTCGCTCCCTGCATCCAACCATCCCTGAGC... | ACTACCCTAAGCCATATCAGGTCCCGTGGCTGTATCAGCCTTGACATGTCCACAGCTGAGCTCATCTCCCTCCAGCCTGGTCCTCCTCTCATGTCCCCTCTCATTCACTCACTCATTCATTTATTCATTCTACCAACATTTATGGAGTCCCTACCATGTGGCATCATCACCCCCAATGCAGAAGCTATATTGGTGAGCAGAACGGACAGGCTCTGCCTCCATGGAGACCTTGGTCAGGTGTGTAGCACCTGGATCCCTCCTGGTCACCCAGCACGGGCATCTTAGAACTCCTCGCTCCCTGCATCCAACCATCCCTGAGC... | benign | 261,794 |
Does the variant on chromosome 17 at location 6610133 affecting gene KIAA0753 (KIAA0753) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Short-rib_thoracic_dysplasia_21_without_polydactyly', 'likely other unspecified diseases'] | ATACAAAACTAGCAAGTGATATATAATTGACACATATATAATTTATGAATGAATAAGAAAAAATAGAAGAGCTCACTATAAGCTATATAGTTTGACTGAAACGTTTAATAAACTACATTTTATGTATTTATTCTATTTTTAAAAATAATCTACATTTTAAATAACCAACTTTAAATGTAGGAAAGAGAAGAAAGGGTTCACTTCCAAGTCTATGTAAAAGGAGCTCTTTAATTCTCAAAGATCTGAAAAATACCAGCACAAACCTGGCTGCTTCATGCTCAACAGCACCTGTCAGGTGACTTTCCTCTTGAGGATCTTCT... | ATACAAAACTAGCAAGTGATATATAATTGACACATATATAATTTATGAATGAATAAGAAAAAATAGAAGAGCTCACTATAAGCTATATAGTTTGACTGAAACGTTTAATAAACTACATTTTATGTATTTATTCTATTTTTAAAAATAATCTACATTTTAAATAACCAACTTTAAATGTAGGAAAGAGAAGAAAGGGTTCACTTCCAAGTCTATGTAAAAGGAGCTCTTTAATTCTCAAAGATCTGAAAAATACCAGCACAAACCTGGCTGCTTCATGCTCAACAGCACCTGTCAGGTGACTTTCCTCTTGAGGATCTTCT... | pathogenic | 261,865 |
The mutation in gene KIAA0753 (KIAA0753) at chromosome 17, position 6611982—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Joubert_syndrome_38'] | TTGATATATGGAGGAAAAAGAGCATCACATACACAAACGGTCCCTTGAGTTTTCACATACCATTTAGGAGACGCTGGTGGGGATGTGGGGTTTGGGGGTATCCATGGTGCCTTGCGGTCTTTCACAGGCTGCCGGTTCATTTTTAATCTGGATGAAACTGTTGTCTGCTGCACTCTGCTTTTACTGTGAGGTTGGCTTTGTCTACCTCTTTCAGCTTTGCGGAGTCCCTGTGAGAGATAAGTAAGAATTATAAGGCCACACAAATACCAAAGAAACTATGGTTTAACCTCTGACTCACTGAAGCTCCAAGTTCTCCATGT... | TTGATATATGGAGGAAAAAGAGCATCACATACACAAACGGTCCCTTGAGTTTTCACATACCATTTAGGAGACGCTGGTGGGGATGTGGGGTTTGGGGGTATCCATGGTGCCTTGCGGTCTTTCACAGGCTGCCGGTTCATTTTTAATCTGGATGAAACTGTTGTCTGCTGCACTCTGCTTTTACTGTGAGGTTGGCTTTGTCTACCTCTTTCAGCTTTGCGGAGTCCCTGTGAGAGATAAGTAAGAATTATAAGGCCACACAAATACCAAAGAAACTATGGTTTAACCTCTGACTCACTGAAGCTCCAAGTTCTCCATGT... | pathogenic | 261,871 |
Clinically, how would you classify the variant at chromosome 17, position 6690763, gene SLC13A5 (solute carrier family 13 member 5): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | AGCCAAGATCACACCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCTGTCTCAAAAAAAGTGTGTGAGTGTGTAAAATATCCAGAAAAATATTTGAGAAATTAACAGAGGTCATCTCTAGGGAGGAGGCTAGAGGATTAAGGTCTGTATACATCTTTGCATTATTAGACATTTTTAGCCATATACCATCTGCAATTTTAAAAAACTATACTATGAGCATGTTCCCATTTTATTACTCTTTGAAACTGTGATTTTTAATGGCCTGATAATGTCATATTATATGAATATATGATAATTTATTTCAGCAAACCCCCTGT... | AGCCAAGATCACACCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCTGTCTCAAAAAAAGTGTGTGAGTGTGTAAAATATCCAGAAAAATATTTGAGAAATTAACAGAGGTCATCTCTAGGGAGGAGGCTAGAGGATTAAGGTCTGTATACATCTTTGCATTATTAGACATTTTTAGCCATATACCATCTGCAATTTTAAAAAACTATACTATGAGCATGTTCCCATTTTATTACTCTTTGAAACTGTGATTTTTAATGGCCTGATAATGTCATATTATATGAATATATGATAATTTATTTCAGCAAACCCCCTGT... | benign | 261,920 |
A genetic variant on chromosome 17, position 6693178, affects the gene SLC13A5 (solute carrier family 13 member 5). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TGGCCTACTATGTGGATTTACATACCCATATGCCTTCTGGAAATGTCCATCCAGATGTCCCAAGAGCACAACAGACTCAACATGCTCCACCCTGCATTCATCCTCCATAGCCCAGAATCTGCTTCTCTCTCTGGGCCTCCCAGTTTGGTGAATGGACTCACCATCCACCAGCCATCCAGCCCAGCAGGCTGGGAGTCATGCTGCCGGTCTCTGTTCCCCTCCTTCCTTATACCCAGTCAGTCACCAAGTCACCCAAATGTCTCACATCCATCTCCTCCTCTTCAGTGCTCCACAGTTTTGGAAGCTCAGGAGAATGATTT... | TGGCCTACTATGTGGATTTACATACCCATATGCCTTCTGGAAATGTCCATCCAGATGTCCCAAGAGCACAACAGACTCAACATGCTCCACCCTGCATTCATCCTCCATAGCCCAGAATCTGCTTCTCTCTCTGGGCCTCCCAGTTTGGTGAATGGACTCACCATCCACCAGCCATCCAGCCCAGCAGGCTGGGAGTCATGCTGCCGGTCTCTGTTCCCCTCCTTCCTTATACCCAGTCAGTCACCAAGTCACCCAAATGTCTCACATCCATCTCCTCCTCTTCAGTGCTCCACAGTTTTGGAAGCTCAGGAGAATGATTT... | benign | 261,933 |
The chromosome 17, position 6693178 genetic variant in gene SLC13A5 (solute carrier family 13 member 5): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TGGCCTACTATGTGGATTTACATACCCATATGCCTTCTGGAAATGTCCATCCAGATGTCCCAAGAGCACAACAGACTCAACATGCTCCACCCTGCATTCATCCTCCATAGCCCAGAATCTGCTTCTCTCTCTGGGCCTCCCAGTTTGGTGAATGGACTCACCATCCACCAGCCATCCAGCCCAGCAGGCTGGGAGTCATGCTGCCGGTCTCTGTTCCCCTCCTTCCTTATACCCAGTCAGTCACCAAGTCACCCAAATGTCTCACATCCATCTCCTCCTCTTCAGTGCTCCACAGTTTTGGAAGCTCAGGAGAATGATTT... | TGGCCTACTATGTGGATTTACATACCCATATGCCTTCTGGAAATGTCCATCCAGATGTCCCAAGAGCACAACAGACTCAACATGCTCCACCCTGCATTCATCCTCCATAGCCCAGAATCTGCTTCTCTCTCTGGGCCTCCCAGTTTGGTGAATGGACTCACCATCCACCAGCCATCCAGCCCAGCAGGCTGGGAGTCATGCTGCCGGTCTCTGTTCCCCTCCTTCCTTATACCCAGTCAGTCACCAAGTCACCCAAATGTCTCACATCCATCTCCTCCTCTTCAGTGCTCCACAGTTTTGGAAGCTCAGGAGAATGATTT... | benign | 261,934 |
Is chromosome 17, position 6693178, gene SLC13A5 (solute carrier family 13 member 5) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TGGCCTACTATGTGGATTTACATACCCATATGCCTTCTGGAAATGTCCATCCAGATGTCCCAAGAGCACAACAGACTCAACATGCTCCACCCTGCATTCATCCTCCATAGCCCAGAATCTGCTTCTCTCTCTGGGCCTCCCAGTTTGGTGAATGGACTCACCATCCACCAGCCATCCAGCCCAGCAGGCTGGGAGTCATGCTGCCGGTCTCTGTTCCCCTCCTTCCTTATACCCAGTCAGTCACCAAGTCACCCAAATGTCTCACATCCATCTCCTCCTCTTCAGTGCTCCACAGTTTTGGAAGCTCAGGAGAATGATTT... | TGGCCTACTATGTGGATTTACATACCCATATGCCTTCTGGAAATGTCCATCCAGATGTCCCAAGAGCACAACAGACTCAACATGCTCCACCCTGCATTCATCCTCCATAGCCCAGAATCTGCTTCTCTCTCTGGGCCTCCCAGTTTGGTGAATGGACTCACCATCCACCAGCCATCCAGCCCAGCAGGCTGGGAGTCATGCTGCCGGTCTCTGTTCCCCTCCTTCCTTATACCCAGTCAGTCACCAAGTCACCCAAATGTCTCACATCCATCTCCTCCTCTTCAGTGCTCCACAGTTTTGGAAGCTCAGGAGAATGATTT... | benign | 261,935 |
A genetic alteration at chromosome 17, position 6693178, in gene SLC13A5 (solute carrier family 13 member 5)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TGGCCTACTATGTGGATTTACATACCCATATGCCTTCTGGAAATGTCCATCCAGATGTCCCAAGAGCACAACAGACTCAACATGCTCCACCCTGCATTCATCCTCCATAGCCCAGAATCTGCTTCTCTCTCTGGGCCTCCCAGTTTGGTGAATGGACTCACCATCCACCAGCCATCCAGCCCAGCAGGCTGGGAGTCATGCTGCCGGTCTCTGTTCCCCTCCTTCCTTATACCCAGTCAGTCACCAAGTCACCCAAATGTCTCACATCCATCTCCTCCTCTTCAGTGCTCCACAGTTTTGGAAGCTCAGGAGAATGATTT... | TGGCCTACTATGTGGATTTACATACCCATATGCCTTCTGGAAATGTCCATCCAGATGTCCCAAGAGCACAACAGACTCAACATGCTCCACCCTGCATTCATCCTCCATAGCCCAGAATCTGCTTCTCTCTCTGGGCCTCCCAGTTTGGTGAATGGACTCACCATCCACCAGCCATCCAGCCCAGCAGGCTGGGAGTCATGCTGCCGGTCTCTGTTCCCCTCCTTCCTTATACCCAGTCAGTCACCAAGTCACCCAAATGTCTCACATCCATCTCCTCCTCTTCAGTGCTCCACAGTTTTGGAAGCTCAGGAGAATGATTT... | benign | 261,936 |
Chromosome 17, position 6693178, gene SLC13A5 (solute carrier family 13 member 5): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TGGCCTACTATGTGGATTTACATACCCATATGCCTTCTGGAAATGTCCATCCAGATGTCCCAAGAGCACAACAGACTCAACATGCTCCACCCTGCATTCATCCTCCATAGCCCAGAATCTGCTTCTCTCTCTGGGCCTCCCAGTTTGGTGAATGGACTCACCATCCACCAGCCATCCAGCCCAGCAGGCTGGGAGTCATGCTGCCGGTCTCTGTTCCCCTCCTTCCTTATACCCAGTCAGTCACCAAGTCACCCAAATGTCTCACATCCATCTCCTCCTCTTCAGTGCTCCACAGTTTTGGAAGCTCAGGAGAATGATTT... | TGGCCTACTATGTGGATTTACATACCCATATGCCTTCTGGAAATGTCCATCCAGATGTCCCAAGAGCACAACAGACTCAACATGCTCCACCCTGCATTCATCCTCCATAGCCCAGAATCTGCTTCTCTCTCTGGGCCTCCCAGTTTGGTGAATGGACTCACCATCCACCAGCCATCCAGCCCAGCAGGCTGGGAGTCATGCTGCCGGTCTCTGTTCCCCTCCTTCCTTATACCCAGTCAGTCACCAAGTCACCCAAATGTCTCACATCCATCTCCTCCTCTTCAGTGCTCCACAGTTTTGGAAGCTCAGGAGAATGATTT... | benign | 261,937 |
Mutation at chromosome 17, position 6694111, within SLC13A5 (solute carrier family 13 member 5): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_25'] | AATCTCTGTGCCTGGCATAACACTAGGGACATAATAGGAATGTTGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGATGGATGGATGGATAGATAGATGGGTGGATAGATAGATGGGTGGATGGATGGACAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGACGGATGGACGGACGGATGGATGGATGAAGACATGAATAGATGCATGGATGATGGATGGAGAGGTGACTAGATGGATGGATTTGTTCACCTCCGCAAAAACTTAGC... | AATCTCTGTGCCTGGCATAACACTAGGGACATAATAGGAATGTTGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGATGGATGGATGGATAGATAGATGGGTGGATAGATAGATGGGTGGATGGATGGACAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGACGGATGGACGGACGGATGGATGGATGAAGACATGAATAGATGCATGGATGATGGATGGAGAGGTGACTAGATGGATGGATTTGTTCACCTCCGCAAAAACTTAGC... | pathogenic | 261,940 |
Is the genetic change at chromosome 17, position 6702948, within gene SLC13A5 (solute carrier family 13 member 5) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CCAGACACGAAGGACTTTGTAAACCTGCCTATTGAGTCTGAGGGCTCTTCTGCAGCTTTGAGGCATAATTAGGCATAATTAGGCTGTGAGCAGCTCAAACTTACTTGAATCTCATGTAAACAAACTGGAGCCACAGCCAGGCGAACAGCAGCATCACCAGCATGTTGGGAAAGGCAAATGCAAACCAGGAAGCAAAGTTCACGAGGTCCTTGCTGTCAGGAAACAACCTACAAGAAGACACCGGCCCCCACCTCAGATGCTGAGCTGTGGGAGCCAGCCTGGCCCTGTGCGTGGGGACGGAGCAGCAGCTGGGCCCTGAG... | CCAGACACGAAGGACTTTGTAAACCTGCCTATTGAGTCTGAGGGCTCTTCTGCAGCTTTGAGGCATAATTAGGCATAATTAGGCTGTGAGCAGCTCAAACTTACTTGAATCTCATGTAAACAAACTGGAGCCACAGCCAGGCGAACAGCAGCATCACCAGCATGTTGGGAAAGGCAAATGCAAACCAGGAAGCAAAGTTCACGAGGTCCTTGCTGTCAGGAAACAACCTACAAGAAGACACCGGCCCCCACCTCAGATGCTGAGCTGTGGGAGCCAGCCTGGCCCTGTGCGTGGGGACGGAGCAGCAGCTGGGCCCTGAG... | benign | 261,967 |
Evaluate the clinical significance of the mutation at chromosome 17, position 7190805 in gene DLG4 (discs large MAGUK scaffold protein 4): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Intellectual_developmental_disorder_62'] | TTAGATTCTTATTTTCCTACCCTCATTATTTACAAAGCTGCCTCAGATCTTTCCCATAGAGATAGGACATAAAGGCTGGGCGTAGTGGCTCATGCCTGTAATCTTAACACTGTGGGAGGCCAAGCTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACAAAGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCAGGCGCCTGTAATCCCAGCTATTCGAGAGGCTGAGGCAGGAGAACCGTGTGAACCCAGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACAGC... | TTAGATTCTTATTTTCCTACCCTCATTATTTACAAAGCTGCCTCAGATCTTTCCCATAGAGATAGGACATAAAGGCTGGGCGTAGTGGCTCATGCCTGTAATCTTAACACTGTGGGAGGCCAAGCTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACAAAGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCAGGCGCCTGTAATCCCAGCTATTCGAGAGGCTGAGGCAGGAGAACCGTGTGAACCCAGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACAGC... | pathogenic | 262,051 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 7192955, gene DLG4 (discs large MAGUK scaffold protein 4): what disease(s) if pathogenic? | pathogenic; ['Intellectual_developmental_disorder_62'] | CTTTCCAACTCTCCAAGCCATAAGTCCTGGGGCTGCACCCGCCCACAGGGGCACCTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATTGAGTTTTGCTCTTAGCGCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTACCGAGTAGCTGGGATTACAGGTGCCCGCCAGTGCTGGGATTACAGGCGTGAGCCACCATGCCGCGCCCACAGGGGCACCTCTTTCTAAGCCATCCACTGGGGGTGGCGGGGGAGCTCTTTCTAATCCGAGCAAG... | CTTTCCAACTCTCCAAGCCATAAGTCCTGGGGCTGCACCCGCCCACAGGGGCACCTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATTGAGTTTTGCTCTTAGCGCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTACCGAGTAGCTGGGATTACAGGTGCCCGCCAGTGCTGGGATTACAGGCGTGAGCCACCATGCCGCGCCCACAGGGGCACCTCTTTCTAAGCCATCCACTGGGGGTGGCGGGGGAGCTCTTTCTAATCCGAGCAAG... | pathogenic | 262,054 |
Evaluate if the mutation on chromosome 17 at position 7193096 in DLG4 (discs large MAGUK scaffold protein 4) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Intellectual_developmental_disorder_62', 'Marfanoid_habitus_and_intellectual_disability'] | CAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTACCGAGTAGCTGGGATTACAGGTGCCCGCCAGTGCTGGGATTACAGGCGTGAGCCACCATGCCGCGCCCACAGGGGCACCTCTTTCTAAGCCATCCACTGGGGGTGGCGGGGGAGCTCTTTCTAATCCGAGCAAGGGCACCCTACATGCTGGCAACAGCCTTGCTGTGGCCTCACCTGAGAAGCACTCTGTGAACTCCTGCTCCAGCTTGGTGGCTCTGTCGAAGGCTTTGCGGGCTTGCTCCTCTGTGATCCGCTTGTTAATCTCTCTGTGAAGA... | CAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTACCGAGTAGCTGGGATTACAGGTGCCCGCCAGTGCTGGGATTACAGGCGTGAGCCACCATGCCGCGCCCACAGGGGCACCTCTTTCTAAGCCATCCACTGGGGGTGGCGGGGGAGCTCTTTCTAATCCGAGCAAGGGCACCCTACATGCTGGCAACAGCCTTGCTGTGGCCTCACCTGAGAAGCACTCTGTGAACTCCTGCTCCAGCTTGGTGGCTCTGTCGAAGGCTTTGCGGGCTTGCTCCTCTGTGATCCGCTTGTTAATCTCTCTGTGAAGA... | pathogenic | 262,059 |
Considering the genetic mutation at chromosome 17, position 7193113, impacting DLG4 (discs large MAGUK scaffold protein 4): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Intellectual_developmental_disorder_62', 'Neurodevelopmental_delay'] | GTTCAAGCGATTCTCCTGCCTCGGCCTACCGAGTAGCTGGGATTACAGGTGCCCGCCAGTGCTGGGATTACAGGCGTGAGCCACCATGCCGCGCCCACAGGGGCACCTCTTTCTAAGCCATCCACTGGGGGTGGCGGGGGAGCTCTTTCTAATCCGAGCAAGGGCACCCTACATGCTGGCAACAGCCTTGCTGTGGCCTCACCTGAGAAGCACTCTGTGAACTCCTGCTCCAGCTTGGTGGCTCTGTCGAAGGCTTTGCGGGCTTGCTCCTCTGTGATCCGCTTGTTAATCTCTCTGTGAAGAGGGAGGGAGAGCAGGCC... | GTTCAAGCGATTCTCCTGCCTCGGCCTACCGAGTAGCTGGGATTACAGGTGCCCGCCAGTGCTGGGATTACAGGCGTGAGCCACCATGCCGCGCCCACAGGGGCACCTCTTTCTAAGCCATCCACTGGGGGTGGCGGGGGAGCTCTTTCTAATCCGAGCAAGGGCACCCTACATGCTGGCAACAGCCTTGCTGTGGCCTCACCTGAGAAGCACTCTGTGAACTCCTGCTCCAGCTTGGTGGCTCTGTCGAAGGCTTTGCGGGCTTGCTCCTCTGTGATCCGCTTGTTAATCTCTCTGTGAAGAGGGAGGGAGAGCAGGCC... | pathogenic | 262,060 |
Gene DLG4 (discs large MAGUK scaffold protein 4) variant at chromosome position 7194338 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Intellectual_developmental_disorder_62'] | TGGCAGAGCCGGGGCAGCAGCGAGTGGGGCGGGGTGTGCAAGGCAGAGGTGACACAGGCGGGAAGGAAAGCCAAGAAAAAGGAGAAAGGAAGTAGGATAGAGGGAGGAGGGAGGGGAGGACGGACAGAGGACAGACAGATGGAAGGAACAAGGAGACAGATGGGAGGGAGTGAGGCAGATGGAGAAAGGAACCGTGGAGGGAGGGAGGGAGGGCAGGGTGAGGAGCAGCGGGGAAAGGAAAGGAGTTAGCAGAGGAGTGGGAGAGGGGAGCCGGGCCCCAGAAAAGGGTGAGGCAGGGGAGAGGGCCAGCGGGGAGTCAG... | TGGCAGAGCCGGGGCAGCAGCGAGTGGGGCGGGGTGTGCAAGGCAGAGGTGACACAGGCGGGAAGGAAAGCCAAGAAAAAGGAGAAAGGAAGTAGGATAGAGGGAGGAGGGAGGGGAGGACGGACAGAGGACAGACAGATGGAAGGAACAAGGAGACAGATGGGAGGGAGTGAGGCAGATGGAGAAAGGAACCGTGGAGGGAGGGAGGGAGGGCAGGGTGAGGAGCAGCGGGGAAAGGAAAGGAGTTAGCAGAGGAGTGGGAGAGGGGAGCCGGGCCCCAGAAAAGGGTGAGGCAGGGGAGAGGGCCAGCGGGGAGTCAG... | pathogenic | 262,071 |
For chromosome 17, position 7194362, gene DLG4 (discs large MAGUK scaffold protein 4): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Intellectual_developmental_disorder_62'] | TGGGGCGGGGTGTGCAAGGCAGAGGTGACACAGGCGGGAAGGAAAGCCAAGAAAAAGGAGAAAGGAAGTAGGATAGAGGGAGGAGGGAGGGGAGGACGGACAGAGGACAGACAGATGGAAGGAACAAGGAGACAGATGGGAGGGAGTGAGGCAGATGGAGAAAGGAACCGTGGAGGGAGGGAGGGAGGGCAGGGTGAGGAGCAGCGGGGAAAGGAAAGGAGTTAGCAGAGGAGTGGGAGAGGGGAGCCGGGCCCCAGAAAAGGGTGAGGCAGGGGAGAGGGCCAGCGGGGAGTCAGGAAAAAGGGAGGGACCCAGTGGGG... | TGGGGCGGGGTGTGCAAGGCAGAGGTGACACAGGCGGGAAGGAAAGCCAAGAAAAAGGAGAAAGGAAGTAGGATAGAGGGAGGAGGGAGGGGAGGACGGACAGAGGACAGACAGATGGAAGGAACAAGGAGACAGATGGGAGGGAGTGAGGCAGATGGAGAAAGGAACCGTGGAGGGAGGGAGGGAGGGCAGGGTGAGGAGCAGCGGGGAAAGGAAAGGAGTTAGCAGAGGAGTGGGAGAGGGGAGCCGGGCCCCAGAAAAGGGTGAGGCAGGGGAGAGGGCCAGCGGGGAGTCAGGAAAAAGGGAGGGACCCAGTGGGG... | pathogenic | 262,072 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 7196814, gene DLG4. What disease(s) is it linked to if pathogenic? | pathogenic; ['Intellectual_developmental_disorder_62', 'Marfanoid_habitus_and_intellectual_disability'] | CCACCTGGAATCCCAGCTGACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATTGAGACCATGGTGAAACCCCGTCTCTACTAAAAATACAAAATATTAGCCGGGCACGGTGGCGGGTGCCTGTATTCCCAGCTTCTCGGGAGGCTGAGGCAGGAAAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACGGAGCGAGACACCGTCTCAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAACAGAAAGCAGTGTGCAGTACACACGCACATCATA... | CCACCTGGAATCCCAGCTGACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATTGAGACCATGGTGAAACCCCGTCTCTACTAAAAATACAAAATATTAGCCGGGCACGGTGGCGGGTGCCTGTATTCCCAGCTTCTCGGGAGGCTGAGGCAGGAAAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACGGAGCGAGACACCGTCTCAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAACAGAAAGCAGTGTGCAGTACACACGCACATCATA... | pathogenic | 262,081 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 7203229, gene DLG4 (discs large MAGUK scaffold protein 4). What disease(s) is it linked to if pathogenic? | pathogenic; ['Intellectual_developmental_disorder_62'] | TTAACTTTGCATATTTTTCCAGTTAATTCACTTAGATTTTGATCTAGATGCACAGTAGTATAATTTACAAATAGAGATAACTTTTGTTTTTCCCTTCCAAATGTAACTATTCTCCTTGTCTTGTTACACTGTCTGAAATCTCTAAAGCAGTGATTCTCAACCACCATAATTTCGCTGGGGCAATTCTGTCATAACATTTTTTAATTGTTATGACTGAGGGGGAGGAGTACCATTGTCATCTGATAGACAGAGGCCAGGGATGCTGCTTAATATCCCACAAGGCACAGAACAACCCCCCACAATGAAGAGTTATTGGGTCC... | TTAACTTTGCATATTTTTCCAGTTAATTCACTTAGATTTTGATCTAGATGCACAGTAGTATAATTTACAAATAGAGATAACTTTTGTTTTTCCCTTCCAAATGTAACTATTCTCCTTGTCTTGTTACACTGTCTGAAATCTCTAAAGCAGTGATTCTCAACCACCATAATTTCGCTGGGGCAATTCTGTCATAACATTTTTTAATTGTTATGACTGAGGGGGAGGAGTACCATTGTCATCTGATAGACAGAGGCCAGGGATGCTGCTTAATATCCCACAAGGCACAGAACAACCCCCCACAATGAAGAGTTATTGGGTCC... | pathogenic | 262,087 |
Benign or pathogenic: chromosome 17, position 7203309, gene DLG4 (discs large MAGUK scaffold protein 4) variant? Disease(s) if pathogenic? | pathogenic; ['Intellectual_developmental_disorder_62'] | CTTTTGTTTTTCCCTTCCAAATGTAACTATTCTCCTTGTCTTGTTACACTGTCTGAAATCTCTAAAGCAGTGATTCTCAACCACCATAATTTCGCTGGGGCAATTCTGTCATAACATTTTTTAATTGTTATGACTGAGGGGGAGGAGTACCATTGTCATCTGATAGACAGAGGCCAGGGATGCTGCTTAATATCCCACAAGGCACAGAACAACCCCCCACAATGAAGAGTTATTGGGTCCAAAAATGTCAGGAGTAACACTGAGAAACCCTGCTCTAAAGCAATGAAGAATAATAGCAGTGGGAAGAGGCATCCCTGCCC... | CTTTTGTTTTTCCCTTCCAAATGTAACTATTCTCCTTGTCTTGTTACACTGTCTGAAATCTCTAAAGCAGTGATTCTCAACCACCATAATTTCGCTGGGGCAATTCTGTCATAACATTTTTTAATTGTTATGACTGAGGGGGAGGAGTACCATTGTCATCTGATAGACAGAGGCCAGGGATGCTGCTTAATATCCCACAAGGCACAGAACAACCCCCCACAATGAAGAGTTATTGGGTCCAAAAATGTCAGGAGTAACACTGAGAAACCCTGCTCTAAAGCAATGAAGAATAATAGCAGTGGGAAGAGGCATCCCTGCCC... | pathogenic | 262,090 |
Clinically, how would you classify the variant at chromosome 17, position 7203589, gene DLG4 (discs large MAGUK scaffold protein 4): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Intellectual_developmental_disorder_62'] | CAATGAAGAATAATAGCAGTGGGAAGAGGCATCCCTGCCCTCTTTGTAAGTTAACGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGAGGGCAGATCACCTGAGGTCAGGCATTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAACTACAAAAATTAGCCAGGCGTGATGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCCGGGGCAGCAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTCAGCTGAGATCACACCACTGCACTCCAGCCTGGGCA... | CAATGAAGAATAATAGCAGTGGGAAGAGGCATCCCTGCCCTCTTTGTAAGTTAACGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGAGGGCAGATCACCTGAGGTCAGGCATTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAACTACAAAAATTAGCCAGGCGTGATGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCCGGGGCAGCAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTCAGCTGAGATCACACCACTGCACTCCAGCCTGGGCA... | pathogenic | 262,092 |
Benign or pathogenic: chromosome 17, position 7203700, gene DLG4 (discs large MAGUK scaffold protein 4) variant? Disease(s) if pathogenic? | pathogenic; ['Intellectual_developmental_disorder_62'] | GGGCAGATCACCTGAGGTCAGGCATTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAACTACAAAAATTAGCCAGGCGTGATGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCCGGGGCAGCAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTCAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAAGAAGAGCGAAACTCCATTTCAAGAAAAAAATTAAAATTAAATTAAAAAATAAGTTAATGGACACACTGCTAAAATTGTATCATTATAAAATGTTTGTTACTGGTTCCTGA... | GGGCAGATCACCTGAGGTCAGGCATTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAACTACAAAAATTAGCCAGGCGTGATGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCCGGGGCAGCAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTCAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAAGAAGAGCGAAACTCCATTTCAAGAAAAAAATTAAAATTAAATTAAAAAATAAGTTAATGGACACACTGCTAAAATTGTATCATTATAAAATGTTTGTTACTGGTTCCTGA... | pathogenic | 262,093 |
Is the chromosome 17, position 7203783 variant in DLG4 (discs large MAGUK scaffold protein 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Intellectual_developmental_disorder_62'] | GCCAGGCGTGATGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCCGGGGCAGCAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTCAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAAGAAGAGCGAAACTCCATTTCAAGAAAAAAATTAAAATTAAATTAAAAAATAAGTTAATGGACACACTGCTAAAATTGTATCATTATAAAATGTTTGTTACTGGTTCCTGATAACTAGTCTTCACCATCTTAAGGAAAATTTCTGTGTTCCTAGTTTACTAAAAGCTTTCATCCAAAAGAGATGGTGAATTTCA... | GCCAGGCGTGATGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCCGGGGCAGCAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTCAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAAGAAGAGCGAAACTCCATTTCAAGAAAAAAATTAAAATTAAATTAAAAAATAAGTTAATGGACACACTGCTAAAATTGTATCATTATAAAATGTTTGTTACTGGTTCCTGATAACTAGTCTTCACCATCTTAAGGAAAATTTCTGTGTTCCTAGTTTACTAAAAGCTTTCATCCAAAAGAGATGGTGAATTTCA... | pathogenic | 262,095 |
Is the variant located on chromosome 17 at position 7204200, gene DLG4 (discs large MAGUK scaffold protein 4), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cerebral_visual_impairment_and_intellectual_disability', 'Intellectual_developmental_disorder_62'] | CTGCAGCTTCCAACTCCTCGGCTCAAGCGATCCTCCAGCCTCAGCCTCCCAAGTAGCAAGGAGTATAGGCACGTGCTAATTTTTTTAATTTTTTTAGAGACAGGATCTCGCTTTGTTGCCTAGGCTGGTCTCAAATCCCTAGCTGGTCTCAAATCCTCCCACTTTGGCCTCCCAAGTGCTGGGATTACAAGCATGAGCCACCACACTTAGCCTCCCGTAACGTTTTAATATATGAATCATATTAAGAGATTTCCTAATATTGAGCCATCTTTAGTTTTCTGAAACAAACCCTATGTTATTCCCTTAACATGCTGCCATGT... | CTGCAGCTTCCAACTCCTCGGCTCAAGCGATCCTCCAGCCTCAGCCTCCCAAGTAGCAAGGAGTATAGGCACGTGCTAATTTTTTTAATTTTTTTAGAGACAGGATCTCGCTTTGTTGCCTAGGCTGGTCTCAAATCCCTAGCTGGTCTCAAATCCTCCCACTTTGGCCTCCCAAGTGCTGGGATTACAAGCATGAGCCACCACACTTAGCCTCCCGTAACGTTTTAATATATGAATCATATTAAGAGATTTCCTAATATTGAGCCATCTTTAGTTTTCTGAAACAAACCCTATGTTATTCCCTTAACATGCTGCCATGT... | pathogenic | 262,101 |
Is the variant located on chromosome 17 at position 7217134, gene DLG4, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Intellectual_developmental_disorder_62'] | AGAGATGAACCACAACTCCCAACAGCGCCATGGGCAGCAACCCTCTAACATTGAGGGATCTGGTGCCTCGGGGCCTTATGGGAGTTGGAGTCCCCACCATACCGAGGCTGACAAGTTTTCCAGCCAAGGAATGTGGCAAGCCTGGGTCTCCACGCCTCTGTAAACCCCAAATGCATGATCTGCTCTGTAAGCCTCCTTCCTTCAGGGATGCTCAACCCTGGGCTCCATGGAAGAAGTAGGAGTCTGGAGTGGGTAATGAATAAGGCCACCCACCCACCCAGAATAGCTGCCTGCTGGCAAGCCCCTCACCCTCGCTCCCA... | AGAGATGAACCACAACTCCCAACAGCGCCATGGGCAGCAACCCTCTAACATTGAGGGATCTGGTGCCTCGGGGCCTTATGGGAGTTGGAGTCCCCACCATACCGAGGCTGACAAGTTTTCCAGCCAAGGAATGTGGCAAGCCTGGGTCTCCACGCCTCTGTAAACCCCAAATGCATGATCTGCTCTGTAAGCCTCCTTCCTTCAGGGATGCTCAACCCTGGGCTCCATGGAAGAAGTAGGAGTCTGGAGTGGGTAATGAATAAGGCCACCCACCCACCCAGAATAGCTGCCTGCTGGCAAGCCCCTCACCCTCGCTCCCA... | pathogenic | 262,102 |
Gene DLG4 variant at chromosome 17, position 7219921—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | ACGGTTATTTGAATACGGGAGGGAGGCCTCTCGGCAGGCGGTAGGGGGTCGGGTGTGAGGGAGGAGCTGAAGGAGGCAATCCCTGGGGGCCTAGTTCTCCCTCAGGTTTCTCAGGGGGAAACCTAAAAAGTTAAGCCCTAGACTCTTTAGTGCCTGAAACTGGGGCAGCCAAAGAAAACGAGGAAGAAAGGGAGAGTGGGTACAGGACCACAGAGAGTGCATTCTCGGTGCCCCAAGTCCCTGGGCCACTGACTCAGGCTTTTGTCAGCAGGGCCCCCAAGATTCCAGGTAATATTAGTGATATTTGGCTCACCCCTCCA... | ACGGTTATTTGAATACGGGAGGGAGGCCTCTCGGCAGGCGGTAGGGGGTCGGGTGTGAGGGAGGAGCTGAAGGAGGCAATCCCTGGGGGCCTAGTTCTCCCTCAGGTTTCTCAGGGGGAAACCTAAAAAGTTAAGCCCTAGACTCTTTAGTGCCTGAAACTGGGGCAGCCAAAGAAAACGAGGAAGAAAGGGAGAGTGGGTACAGGACCACAGAGAGTGCATTCTCGGTGCCCCAAGTCCCTGGGCCACTGACTCAGGCTTTTGTCAGCAGGGCCCCCAAGATTCCAGGTAATATTAGTGATATTTGGCTCACCCCTCCA... | benign | 262,104 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 7220055, gene ACADVL (acyl-CoA dehydrogenase very long chain). What disease(s) is it linked to if pathogenic? | benign | GCCCTAGACTCTTTAGTGCCTGAAACTGGGGCAGCCAAAGAAAACGAGGAAGAAAGGGAGAGTGGGTACAGGACCACAGAGAGTGCATTCTCGGTGCCCCAAGTCCCTGGGCCACTGACTCAGGCTTTTGTCAGCAGGGCCCCCAAGATTCCAGGTAATATTAGTGATATTTGGCTCACCCCTCCAGCCCTGCCTGCCCCTCAGGAAGTTAGGCGCTCGCCCCCACCTCCTTACCTGACTCTCTGAGAGGGAAGCCTCATAATAGTCCAGGATGTCTGTCACAGGAACAGAACTGAGTTACCTCCCCACCCCAGGCCTCT... | GCCCTAGACTCTTTAGTGCCTGAAACTGGGGCAGCCAAAGAAAACGAGGAAGAAAGGGAGAGTGGGTACAGGACCACAGAGAGTGCATTCTCGGTGCCCCAAGTCCCTGGGCCACTGACTCAGGCTTTTGTCAGCAGGGCCCCCAAGATTCCAGGTAATATTAGTGATATTTGGCTCACCCCTCCAGCCCTGCCTGCCCCTCAGGAAGTTAGGCGCTCGCCCCCACCTCCTTACCTGACTCTCTGAGAGGGAAGCCTCATAATAGTCCAGGATGTCTGTCACAGGAACAGAACTGAGTTACCTCCCCACCCCAGGCCTCT... | benign | 262,110 |
Variant chromosome 17, position 7220135, gene ACADVL: benign or pathogenic? Disease(s)? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GAGTGCATTCTCGGTGCCCCAAGTCCCTGGGCCACTGACTCAGGCTTTTGTCAGCAGGGCCCCCAAGATTCCAGGTAATATTAGTGATATTTGGCTCACCCCTCCAGCCCTGCCTGCCCCTCAGGAAGTTAGGCGCTCGCCCCCACCTCCTTACCTGACTCTCTGAGAGGGAAGCCTCATAATAGTCCAGGATGTCTGTCACAGGAACAGAACTGAGTTACCTCCCCACCCCAGGCCTCTCCAGGCACATCACCCCTGTCATCACCGCTGCTGGCTGGCTGGCAAGGGAGGAGCCCTTTCAGCCAAGGCTGGTCCACACT... | GAGTGCATTCTCGGTGCCCCAAGTCCCTGGGCCACTGACTCAGGCTTTTGTCAGCAGGGCCCCCAAGATTCCAGGTAATATTAGTGATATTTGGCTCACCCCTCCAGCCCTGCCTGCCCCTCAGGAAGTTAGGCGCTCGCCCCCACCTCCTTACCTGACTCTCTGAGAGGGAAGCCTCATAATAGTCCAGGATGTCTGTCACAGGAACAGAACTGAGTTACCTCCCCACCCCAGGCCTCTCCAGGCACATCACCCCTGTCATCACCGCTGCTGGCTGGCTGGCAAGGGAGGAGCCCTTTCAGCCAAGGCTGGTCCACACT... | pathogenic | 262,116 |
Evaluate the clinical significance of the mutation at chromosome 17, position 7220150 in gene ACADVL: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GCCCCAAGTCCCTGGGCCACTGACTCAGGCTTTTGTCAGCAGGGCCCCCAAGATTCCAGGTAATATTAGTGATATTTGGCTCACCCCTCCAGCCCTGCCTGCCCCTCAGGAAGTTAGGCGCTCGCCCCCACCTCCTTACCTGACTCTCTGAGAGGGAAGCCTCATAATAGTCCAGGATGTCTGTCACAGGAACAGAACTGAGTTACCTCCCCACCCCAGGCCTCTCCAGGCACATCACCCCTGTCATCACCGCTGCTGGCTGGCTGGCAAGGGAGGAGCCCTTTCAGCCAAGGCTGGTCCACACTCATGGAGGACACCAT... | GCCCCAAGTCCCTGGGCCACTGACTCAGGCTTTTGTCAGCAGGGCCCCCAAGATTCCAGGTAATATTAGTGATATTTGGCTCACCCCTCCAGCCCTGCCTGCCCCTCAGGAAGTTAGGCGCTCGCCCCCACCTCCTTACCTGACTCTCTGAGAGGGAAGCCTCATAATAGTCCAGGATGTCTGTCACAGGAACAGAACTGAGTTACCTCCCCACCCCAGGCCTCTCCAGGCACATCACCCCTGTCATCACCGCTGCTGGCTGGCTGGCAAGGGAGGAGCCCTTTCAGCCAAGGCTGGTCCACACTCATGGAGGACACCAT... | pathogenic | 262,117 |
Does the chromosome 17 mutation at position 7220154 within gene ACADVL classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CAAGTCCCTGGGCCACTGACTCAGGCTTTTGTCAGCAGGGCCCCCAAGATTCCAGGTAATATTAGTGATATTTGGCTCACCCCTCCAGCCCTGCCTGCCCCTCAGGAAGTTAGGCGCTCGCCCCCACCTCCTTACCTGACTCTCTGAGAGGGAAGCCTCATAATAGTCCAGGATGTCTGTCACAGGAACAGAACTGAGTTACCTCCCCACCCCAGGCCTCTCCAGGCACATCACCCCTGTCATCACCGCTGCTGGCTGGCTGGCAAGGGAGGAGCCCTTTCAGCCAAGGCTGGTCCACACTCATGGAGGACACCATAGGC... | CAAGTCCCTGGGCCACTGACTCAGGCTTTTGTCAGCAGGGCCCCCAAGATTCCAGGTAATATTAGTGATATTTGGCTCACCCCTCCAGCCCTGCCTGCCCCTCAGGAAGTTAGGCGCTCGCCCCCACCTCCTTACCTGACTCTCTGAGAGGGAAGCCTCATAATAGTCCAGGATGTCTGTCACAGGAACAGAACTGAGTTACCTCCCCACCCCAGGCCTCTCCAGGCACATCACCCCTGTCATCACCGCTGCTGGCTGGCTGGCAAGGGAGGAGCCCTTTCAGCCAAGGCTGGTCCACACTCATGGAGGACACCATAGGC... | pathogenic | 262,118 |
Determine if the mutation at chromosome 17, position 7220154 in gene ACADVL is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CAAGTCCCTGGGCCACTGACTCAGGCTTTTGTCAGCAGGGCCCCCAAGATTCCAGGTAATATTAGTGATATTTGGCTCACCCCTCCAGCCCTGCCTGCCCCTCAGGAAGTTAGGCGCTCGCCCCCACCTCCTTACCTGACTCTCTGAGAGGGAAGCCTCATAATAGTCCAGGATGTCTGTCACAGGAACAGAACTGAGTTACCTCCCCACCCCAGGCCTCTCCAGGCACATCACCCCTGTCATCACCGCTGCTGGCTGGCTGGCAAGGGAGGAGCCCTTTCAGCCAAGGCTGGTCCACACTCATGGAGGACACCATAGGC... | CAAGTCCCTGGGCCACTGACTCAGGCTTTTGTCAGCAGGGCCCCCAAGATTCCAGGTAATATTAGTGATATTTGGCTCACCCCTCCAGCCCTGCCTGCCCCTCAGGAAGTTAGGCGCTCGCCCCCACCTCCTTACCTGACTCTCTGAGAGGGAAGCCTCATAATAGTCCAGGATGTCTGTCACAGGAACAGAACTGAGTTACCTCCCCACCCCAGGCCTCTCCAGGCACATCACCCCTGTCATCACCGCTGCTGGCTGGCTGGCAAGGGAGGAGCCCTTTCAGCCAAGGCTGGTCCACACTCATGGAGGACACCATAGGC... | pathogenic | 262,119 |
Clinical significance of chromosome 17, position 7220159, gene ACADVL: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CCCTGGGCCACTGACTCAGGCTTTTGTCAGCAGGGCCCCCAAGATTCCAGGTAATATTAGTGATATTTGGCTCACCCCTCCAGCCCTGCCTGCCCCTCAGGAAGTTAGGCGCTCGCCCCCACCTCCTTACCTGACTCTCTGAGAGGGAAGCCTCATAATAGTCCAGGATGTCTGTCACAGGAACAGAACTGAGTTACCTCCCCACCCCAGGCCTCTCCAGGCACATCACCCCTGTCATCACCGCTGCTGGCTGGCTGGCAAGGGAGGAGCCCTTTCAGCCAAGGCTGGTCCACACTCATGGAGGACACCATAGGCAGGAC... | CCCTGGGCCACTGACTCAGGCTTTTGTCAGCAGGGCCCCCAAGATTCCAGGTAATATTAGTGATATTTGGCTCACCCCTCCAGCCCTGCCTGCCCCTCAGGAAGTTAGGCGCTCGCCCCCACCTCCTTACCTGACTCTCTGAGAGGGAAGCCTCATAATAGTCCAGGATGTCTGTCACAGGAACAGAACTGAGTTACCTCCCCACCCCAGGCCTCTCCAGGCACATCACCCCTGTCATCACCGCTGCTGGCTGGCTGGCAAGGGAGGAGCCCTTTCAGCCAAGGCTGGTCCACACTCATGGAGGACACCATAGGCAGGAC... | pathogenic | 262,121 |
Does the variant impacting ACADVL on chromosome 17, position 7220160, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CCTGGGCCACTGACTCAGGCTTTTGTCAGCAGGGCCCCCAAGATTCCAGGTAATATTAGTGATATTTGGCTCACCCCTCCAGCCCTGCCTGCCCCTCAGGAAGTTAGGCGCTCGCCCCCACCTCCTTACCTGACTCTCTGAGAGGGAAGCCTCATAATAGTCCAGGATGTCTGTCACAGGAACAGAACTGAGTTACCTCCCCACCCCAGGCCTCTCCAGGCACATCACCCCTGTCATCACCGCTGCTGGCTGGCTGGCAAGGGAGGAGCCCTTTCAGCCAAGGCTGGTCCACACTCATGGAGGACACCATAGGCAGGACC... | CCTGGGCCACTGACTCAGGCTTTTGTCAGCAGGGCCCCCAAGATTCCAGGTAATATTAGTGATATTTGGCTCACCCCTCCAGCCCTGCCTGCCCCTCAGGAAGTTAGGCGCTCGCCCCCACCTCCTTACCTGACTCTCTGAGAGGGAAGCCTCATAATAGTCCAGGATGTCTGTCACAGGAACAGAACTGAGTTACCTCCCCACCCCAGGCCTCTCCAGGCACATCACCCCTGTCATCACCGCTGCTGGCTGGCTGGCAAGGGAGGAGCCCTTTCAGCCAAGGCTGGTCCACACTCATGGAGGACACCATAGGCAGGACC... | pathogenic | 262,122 |
A genetic variant at chromosome 17, position 7220182, affecting gene ACADVL—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | TTGTCAGCAGGGCCCCCAAGATTCCAGGTAATATTAGTGATATTTGGCTCACCCCTCCAGCCCTGCCTGCCCCTCAGGAAGTTAGGCGCTCGCCCCCACCTCCTTACCTGACTCTCTGAGAGGGAAGCCTCATAATAGTCCAGGATGTCTGTCACAGGAACAGAACTGAGTTACCTCCCCACCCCAGGCCTCTCCAGGCACATCACCCCTGTCATCACCGCTGCTGGCTGGCTGGCAAGGGAGGAGCCCTTTCAGCCAAGGCTGGTCCACACTCATGGAGGACACCATAGGCAGGACCCTGCATGGTGCTCCAGCTTGGA... | TTGTCAGCAGGGCCCCCAAGATTCCAGGTAATATTAGTGATATTTGGCTCACCCCTCCAGCCCTGCCTGCCCCTCAGGAAGTTAGGCGCTCGCCCCCACCTCCTTACCTGACTCTCTGAGAGGGAAGCCTCATAATAGTCCAGGATGTCTGTCACAGGAACAGAACTGAGTTACCTCCCCACCCCAGGCCTCTCCAGGCACATCACCCCTGTCATCACCGCTGCTGGCTGGCTGGCAAGGGAGGAGCCCTTTCAGCCAAGGCTGGTCCACACTCATGGAGGACACCATAGGCAGGACCCTGCATGGTGCTCCAGCTTGGA... | pathogenic | 262,124 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 7220467, gene ACADVL (acyl-CoA dehydrogenase very long chain). What disease(s) is it linked to if pathogenic? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CATAGGCAGGACCCTGCATGGTGCTCCAGCTTGGACCAAATGATCTCTGGGCTCCCAAACAGCCCCCGAAGTTCAGTAATGGCCCTTGGAGGCCCAGGTCCCTCAGAAAACGGGCTACTCACCCAGCAAGGCCTGGAAGAGGTCGCTATGCAGCACTGTGAGGAGTGGGGGTGCCCACCGCAGCAGTGGGGGTGCCAGGAGCCAGAGGGCTGACCTGGGAGCTAGTGAGATGCAAGGAGAATTGGGACAGGGAAGATGCCAACACAGGAAGATGAACACACTGTCACTTCATCTCCCCAGACTGTGCCCTTCACCCCAGC... | CATAGGCAGGACCCTGCATGGTGCTCCAGCTTGGACCAAATGATCTCTGGGCTCCCAAACAGCCCCCGAAGTTCAGTAATGGCCCTTGGAGGCCCAGGTCCCTCAGAAAACGGGCTACTCACCCAGCAAGGCCTGGAAGAGGTCGCTATGCAGCACTGTGAGGAGTGGGGGTGCCCACCGCAGCAGTGGGGGTGCCAGGAGCCAGAGGGCTGACCTGGGAGCTAGTGAGATGCAAGGAGAATTGGGACAGGGAAGATGCCAACACAGGAAGATGAACACACTGTCACTTCATCTCCCCAGACTGTGCCCTTCACCCCAGC... | pathogenic | 262,133 |
For chromosome 17, position 7220492, gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CCAGCTTGGACCAAATGATCTCTGGGCTCCCAAACAGCCCCCGAAGTTCAGTAATGGCCCTTGGAGGCCCAGGTCCCTCAGAAAACGGGCTACTCACCCAGCAAGGCCTGGAAGAGGTCGCTATGCAGCACTGTGAGGAGTGGGGGTGCCCACCGCAGCAGTGGGGGTGCCAGGAGCCAGAGGGCTGACCTGGGAGCTAGTGAGATGCAAGGAGAATTGGGACAGGGAAGATGCCAACACAGGAAGATGAACACACTGTCACTTCATCTCCCCAGACTGTGCCCTTCACCCCAGCCCCTACGGAAAGATTTGGGGAGAAG... | CCAGCTTGGACCAAATGATCTCTGGGCTCCCAAACAGCCCCCGAAGTTCAGTAATGGCCCTTGGAGGCCCAGGTCCCTCAGAAAACGGGCTACTCACCCAGCAAGGCCTGGAAGAGGTCGCTATGCAGCACTGTGAGGAGTGGGGGTGCCCACCGCAGCAGTGGGGGTGCCAGGAGCCAGAGGGCTGACCTGGGAGCTAGTGAGATGCAAGGAGAATTGGGACAGGGAAGATGCCAACACAGGAAGATGAACACACTGTCACTTCATCTCCCCAGACTGTGCCCTTCACCCCAGCCCCTACGGAAAGATTTGGGGAGAAG... | pathogenic | 262,135 |
Benign or pathogenic: chromosome 17, position 7220511, gene ACADVL (acyl-CoA dehydrogenase very long chain) variant? Disease(s) if pathogenic? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CTCTGGGCTCCCAAACAGCCCCCGAAGTTCAGTAATGGCCCTTGGAGGCCCAGGTCCCTCAGAAAACGGGCTACTCACCCAGCAAGGCCTGGAAGAGGTCGCTATGCAGCACTGTGAGGAGTGGGGGTGCCCACCGCAGCAGTGGGGGTGCCAGGAGCCAGAGGGCTGACCTGGGAGCTAGTGAGATGCAAGGAGAATTGGGACAGGGAAGATGCCAACACAGGAAGATGAACACACTGTCACTTCATCTCCCCAGACTGTGCCCTTCACCCCAGCCCCTACGGAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCC... | CTCTGGGCTCCCAAACAGCCCCCGAAGTTCAGTAATGGCCCTTGGAGGCCCAGGTCCCTCAGAAAACGGGCTACTCACCCAGCAAGGCCTGGAAGAGGTCGCTATGCAGCACTGTGAGGAGTGGGGGTGCCCACCGCAGCAGTGGGGGTGCCAGGAGCCAGAGGGCTGACCTGGGAGCTAGTGAGATGCAAGGAGAATTGGGACAGGGAAGATGCCAACACAGGAAGATGAACACACTGTCACTTCATCTCCCCAGACTGTGCCCTTCACCCCAGCCCCTACGGAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCC... | pathogenic | 262,137 |
Does the chromosome 17 mutation at position 7220511 within gene ACADVL (acyl-CoA dehydrogenase very long chain) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CTCTGGGCTCCCAAACAGCCCCCGAAGTTCAGTAATGGCCCTTGGAGGCCCAGGTCCCTCAGAAAACGGGCTACTCACCCAGCAAGGCCTGGAAGAGGTCGCTATGCAGCACTGTGAGGAGTGGGGGTGCCCACCGCAGCAGTGGGGGTGCCAGGAGCCAGAGGGCTGACCTGGGAGCTAGTGAGATGCAAGGAGAATTGGGACAGGGAAGATGCCAACACAGGAAGATGAACACACTGTCACTTCATCTCCCCAGACTGTGCCCTTCACCCCAGCCCCTACGGAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCC... | CTCTGGGCTCCCAAACAGCCCCCGAAGTTCAGTAATGGCCCTTGGAGGCCCAGGTCCCTCAGAAAACGGGCTACTCACCCAGCAAGGCCTGGAAGAGGTCGCTATGCAGCACTGTGAGGAGTGGGGGTGCCCACCGCAGCAGTGGGGGTGCCAGGAGCCAGAGGGCTGACCTGGGAGCTAGTGAGATGCAAGGAGAATTGGGACAGGGAAGATGCCAACACAGGAAGATGAACACACTGTCACTTCATCTCCCCAGACTGTGCCCTTCACCCCAGCCCCTACGGAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCC... | pathogenic | 262,138 |
Variant at chromosome position 7220608, chromosome 17, gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GTCGCTATGCAGCACTGTGAGGAGTGGGGGTGCCCACCGCAGCAGTGGGGGTGCCAGGAGCCAGAGGGCTGACCTGGGAGCTAGTGAGATGCAAGGAGAATTGGGACAGGGAAGATGCCAACACAGGAAGATGAACACACTGTCACTTCATCTCCCCAGACTGTGCCCTTCACCCCAGCCCCTACGGAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAA... | GTCGCTATGCAGCACTGTGAGGAGTGGGGGTGCCCACCGCAGCAGTGGGGGTGCCAGGAGCCAGAGGGCTGACCTGGGAGCTAGTGAGATGCAAGGAGAATTGGGACAGGGAAGATGCCAACACAGGAAGATGAACACACTGTCACTTCATCTCCCCAGACTGTGCCCTTCACCCCAGCCCCTACGGAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAA... | pathogenic | 262,144 |
Determine whether the variant at chromosome 17, position 7220651, in gene ACADVL (acyl-CoA dehydrogenase very long chain) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | AGTGGGGGTGCCAGGAGCCAGAGGGCTGACCTGGGAGCTAGTGAGATGCAAGGAGAATTGGGACAGGGAAGATGCCAACACAGGAAGATGAACACACTGTCACTTCATCTCCCCAGACTGTGCCCTTCACCCCAGCCCCTACGGAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCC... | AGTGGGGGTGCCAGGAGCCAGAGGGCTGACCTGGGAGCTAGTGAGATGCAAGGAGAATTGGGACAGGGAAGATGCCAACACAGGAAGATGAACACACTGTCACTTCATCTCCCCAGACTGTGCCCTTCACCCCAGCCCCTACGGAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCC... | pathogenic | 262,145 |
Mutation at chromosome 17, position 7220662, within ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CAGGAGCCAGAGGGCTGACCTGGGAGCTAGTGAGATGCAAGGAGAATTGGGACAGGGAAGATGCCAACACAGGAAGATGAACACACTGTCACTTCATCTCCCCAGACTGTGCCCTTCACCCCAGCCCCTACGGAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTA... | CAGGAGCCAGAGGGCTGACCTGGGAGCTAGTGAGATGCAAGGAGAATTGGGACAGGGAAGATGCCAACACAGGAAGATGAACACACTGTCACTTCATCTCCCCAGACTGTGCCCTTCACCCCAGCCCCTACGGAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTA... | pathogenic | 262,147 |
Considering the genetic mutation at chromosome 17, position 7220726, impacting ACADVL (acyl-CoA dehydrogenase very long chain): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CAACACAGGAAGATGAACACACTGTCACTTCATCTCCCCAGACTGTGCCCTTCACCCCAGCCCCTACGGAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGC... | CAACACAGGAAGATGAACACACTGTCACTTCATCTCCCCAGACTGTGCCCTTCACCCCAGCCCCTACGGAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGC... | benign | 262,152 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 7220779, gene ACADVL (acyl-CoA dehydrogenase very long chain): what disease(s) if pathogenic? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | ACCCCAGCCCCTACGGAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACC... | ACCCCAGCCCCTACGGAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACC... | pathogenic | 262,155 |
Is the genetic change at chromosome 17, position 7220782, within gene ACADVL (acyl-CoA dehydrogenase very long chain) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['ACADVL-related_disorder', 'Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CCAGCCCCTACGGAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAG... | CCAGCCCCTACGGAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAG... | pathogenic | 262,156 |
Regarding the variant at chromosome 17 and position 7220786, affecting gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CCCCTACGGAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCAC... | CCCCTACGGAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCAC... | pathogenic | 262,157 |
Determine if the mutation at chromosome 17, position 7220794 in gene ACADVL (acyl-CoA dehydrogenase very long chain) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['ACADVL-related_disorder', 'Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCT... | GAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCT... | pathogenic | 262,158 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 7220794, gene ACADVL (acyl-CoA dehydrogenase very long chain). What disease(s) is it linked to if pathogenic? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCT... | GAAAGATTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCT... | pathogenic | 262,159 |
Does the genetic variant at chromosome 17, position 7220800, impacting gene ACADVL (acyl-CoA dehydrogenase very long chain), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | TTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAG... | TTTGGGGAGAAGGATCTCCGAGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAG... | pathogenic | 262,160 |
The mutation impacting ACADVL (acyl-CoA dehydrogenase very long chain) on chromosome 17 at position 7220820: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | AGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTC... | AGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTC... | pathogenic | 262,162 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.