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 |
|---|---|---|---|---|---|
Clinically, how would you classify the variant at chromosome 17, position 7220820, gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | AGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTC... | AGCCCCAGCCCCCCACTTCGCTCCCAGACCTCCCCTCCACAAGGAGCCCTGTTTTTCACCTCTTGGTCTCTGGGACATCTCTCTCTTCTCTCACTTTAATCTCCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTC... | pathogenic | 262,163 |
Is the variant located on chromosome 17 at position 7220922, gene ACADVL (acyl-CoA dehydrogenase very long chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Inborn_genetic_diseases', 'Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTG... | CCCTAATCCTCCAGGATTGGAGTTGAGCTGCTTCTCCCCACTAAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTG... | pathogenic | 262,168 |
A mutation at chromosome position 7220964 on chromosome 17 in gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['ACADVL-related_disorder', 'Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | AAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTA... | AAATTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTA... | pathogenic | 262,173 |
Variant chromosome 17, position 7220967, gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? Disease(s)? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | TTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTACGG... | TTCCAGCTGTGAGTAAAGTAGGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTACGG... | pathogenic | 262,174 |
Evaluate if the mutation on chromosome 17 at position 7220997 in ACADVL (acyl-CoA dehydrogenase very long chain) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTACGGGTAAGAGGCAGGAGAATTCCTGCAGTTCCT... | GAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTACGGGTAAGAGGCAGGAGAATTCCTGCAGTTCCT... | pathogenic | 262,176 |
Regarding the variant found on chromosome 17 at position 7220999 in gene ACADVL (acyl-CoA dehydrogenase very long chain): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTACGGGTAAGAGGCAGGAGAATTCCTGCAGTTCCTCT... | GCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTACGGGTAAGAGGCAGGAGAATTCCTGCAGTTCCTCT... | pathogenic | 262,177 |
Is the genetic change at chromosome 17, position 7221431, within gene ACADVL (acyl-CoA dehydrogenase very long chain) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GTGAATCTGGGGGGGTCTTCCTACTGTGAAACTGTAGCTGTTCCAAGAGTTAGTGAATGGCCTACATCTCAGAAGAATACACTTAGGGTACTCACACCCTAGCTTGGGTGCCCCCCACCACTGTACCCTCCCTTTTGTGTTGGCCGAGATAGATTTCATCAGGAACCCTAGAGTCTGTCTTTCCATGTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCC... | GTGAATCTGGGGGGGTCTTCCTACTGTGAAACTGTAGCTGTTCCAAGAGTTAGTGAATGGCCTACATCTCAGAAGAATACACTTAGGGTACTCACACCCTAGCTTGGGTGCCCCCCACCACTGTACCCTCCCTTTTGTGTTGGCCGAGATAGATTTCATCAGGAACCCTAGAGTCTGTCTTTCCATGTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCC... | benign | 262,184 |
Is the chromosome 17, position 7221515 variant in ACADVL (acyl-CoA dehydrogenase very long chain) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AGGGTACTCACACCCTAGCTTGGGTGCCCCCCACCACTGTACCCTCCCTTTTGTGTTGGCCGAGATAGATTTCATCAGGAACCCTAGAGTCTGTCTTTCCATGTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTT... | AGGGTACTCACACCCTAGCTTGGGTGCCCCCCACCACTGTACCCTCCCTTTTGTGTTGGCCGAGATAGATTTCATCAGGAACCCTAGAGTCTGTCTTTCCATGTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTT... | benign | 262,187 |
A genetic variant on chromosome 17, position 7221556, affects the gene ACADVL (acyl-CoA dehydrogenase very long chain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CCCTCCCTTTTGTGTTGGCCGAGATAGATTTCATCAGGAACCCTAGAGTCTGTCTTTCCATGTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCA... | CCCTCCCTTTTGTGTTGGCCGAGATAGATTTCATCAGGAACCCTAGAGTCTGTCTTTCCATGTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCA... | pathogenic | 262,191 |
The genetic variant at chromosome 17, position 7221598, affecting gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CTAGAGTCTGTCTTTCCATGTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTC... | CTAGAGTCTGTCTTTCCATGTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTC... | pathogenic | 262,196 |
Mutation at chromosome 17, position 7221611, 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'] | TTCCATGTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGC... | TTCCATGTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGC... | pathogenic | 262,197 |
Evaluate the clinical significance of the mutation at chromosome 17, position 7221617 in gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTG... | GTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTG... | pathogenic | 262,200 |
Does the genetic variant at chromosome 17, position 7221661, 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'] | TTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGG... | TTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGG... | pathogenic | 262,203 |
Does the chromosome 17 mutation at position 7221662 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'] | TCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGA... | TCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGA... | pathogenic | 262,205 |
Variant on chromosome 17, at position 7221949, affecting ACADVL (acyl-CoA dehydrogenase very long chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAA... | GGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAA... | pathogenic | 262,211 |
Evaluate the clinical significance of the mutation at chromosome 17, position 7221950 in gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAG... | GGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAG... | pathogenic | 262,212 |
Gene mutation in ACADVL (acyl-CoA dehydrogenase very long chain) at chromosome 17, position 7221954—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | AGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGG... | AGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGG... | pathogenic | 262,214 |
Mutation at chromosome 17, position 7221958, 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'] | GCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTG... | GCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTG... | pathogenic | 262,215 |
Determine whether the variant at chromosome 17, position 7221966, 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'] | ACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGC... | ACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGC... | pathogenic | 262,220 |
Is the genetic mutation found on chromosome 17 at position 7221969, within the gene ACADVL (acyl-CoA dehydrogenase very long chain), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | TGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGT... | TGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGT... | pathogenic | 262,221 |
The mutation impacting ACADVL (acyl-CoA dehydrogenase very long chain) on chromosome 17 at position 7221969: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | TGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGT... | TGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGT... | pathogenic | 262,222 |
Located at chromosome 17 position 7221980, the variant affecting gene ACADVL (acyl-CoA dehydrogenase very long chain)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCG... | GACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCG... | pathogenic | 262,224 |
Variant in gene ACADVL (acyl-CoA dehydrogenase very long chain), located at chromosome 17 position 7222004: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCT... | GAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCT... | pathogenic | 262,230 |
Is the variant located on chromosome 17 at position 7222015, gene ACADVL (acyl-CoA dehydrogenase very long chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAG... | GCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAG... | pathogenic | 262,233 |
Regarding the variant found on chromosome 17 at position 7222036 in gene ACADVL (acyl-CoA dehydrogenase very long chain): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTC... | CAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTC... | pathogenic | 262,236 |
Benign or pathogenic: chromosome 17, position 7222037, gene ACADVL (acyl-CoA dehydrogenase very long chain) variant? Disease(s) if pathogenic? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | AGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCG... | AGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCG... | pathogenic | 262,237 |
Gene ACADVL (acyl-CoA dehydrogenase very long chain) variant at chromosome position 7222193 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGC... | GGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGC... | pathogenic | 262,245 |
Gene ACADVL (acyl-CoA dehydrogenase very long chain) variant at chromosome position 7222220 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACC... | GGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACC... | pathogenic | 262,250 |
Clinical significance of chromosome 17, position 7222221, gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCC... | GCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCC... | pathogenic | 262,251 |
Is the chromosome 17, position 7222231 variant in ACADVL (acyl-CoA dehydrogenase very long chain) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCT... | GGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCT... | pathogenic | 262,252 |
Variant in ACADVL (acyl-CoA dehydrogenase very long chain), chromosome 17, position 7222250—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['ACADVL-related_disorder', 'Inborn_genetic_diseases', 'Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGG... | GTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGG... | pathogenic | 262,254 |
A genetic alteration at chromosome 17, position 7222253, in gene ACADVL (acyl-CoA dehydrogenase very long chain)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['ACADVL-related_disorder', 'Inborn_genetic_diseases', 'Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | ACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCA... | ACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCA... | pathogenic | 262,255 |
Chromosome 17, position 7222276, gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | TGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCC... | TGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCC... | pathogenic | 262,257 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 7222287, gene ACADVL (acyl-CoA dehydrogenase very long chain): what disease(s) if pathogenic? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTT... | GTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTT... | pathogenic | 262,261 |
Is the genetic variant on chromosome 17, position 7222288, gene ACADVL (acyl-CoA dehydrogenase very long chain), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['ACADVL-related_disorder', 'Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | TCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTA... | TCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTA... | pathogenic | 262,262 |
Is chromosome 17, position 7222288, gene ACADVL (acyl-CoA dehydrogenase very long chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Abnormality_of_the_musculature', 'Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | TCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTA... | TCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTA... | pathogenic | 262,264 |
Classify the chromosome 17 variant at position 7222668 affecting gene ACADVL (acyl-CoA dehydrogenase very long chain) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCG... | CTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCG... | pathogenic | 262,269 |
For chromosome 17, position 7222674, 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'] | GAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGA... | GAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGA... | pathogenic | 262,270 |
A genetic variant on chromosome 17, position 7222677, affects the gene ACADVL (acyl-CoA dehydrogenase very long chain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | TGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATG... | TGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATG... | pathogenic | 262,271 |
Assess the variant on chromosome 17, position 7222711, impacting ACADVL (acyl-CoA dehydrogenase very long chain): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCA... | CCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCA... | pathogenic | 262,273 |
Is the genetic mutation found on chromosome 17 at position 7222718, within the gene ACADVL (acyl-CoA dehydrogenase very long chain), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTC... | CCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTC... | pathogenic | 262,274 |
Benign or pathogenic: chromosome 17, position 7222782, gene ACADVL (acyl-CoA dehydrogenase very long chain) variant? Disease(s) if pathogenic? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACA... | GGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACA... | pathogenic | 262,280 |
Regarding the variant found on chromosome 17 at position 7222782 in gene ACADVL (acyl-CoA dehydrogenase very long chain): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiac_arrhythmia', 'Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACA... | GGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACA... | pathogenic | 262,281 |
Variant at chromosome 17, position 7222785, gene ACADVL (acyl-CoA dehydrogenase very long chain): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCC... | CTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCC... | pathogenic | 262,282 |
Chromosome 17, position 7222794, gene ACADVL (acyl-CoA dehydrogenase very long chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGG... | CTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGG... | pathogenic | 262,283 |
Variant in gene ACADVL (acyl-CoA dehydrogenase very long chain), located at chromosome 17 position 7222799: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCC... | CCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCC... | pathogenic | 262,284 |
A mutation at chromosome position 7222825 on chromosome 17 in gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATAC... | GAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATAC... | pathogenic | 262,285 |
Evaluate this variant at chromosome 17, position 7222829, gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | AGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCA... | AGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCA... | pathogenic | 262,287 |
The chromosome 17, position 7222843 genetic variant in gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | AAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCA... | AAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCA... | pathogenic | 262,288 |
For chromosome 17, position 7222844, 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'] | AAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAG... | AAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAG... | pathogenic | 262,289 |
The mutation in gene ACADVL (acyl-CoA dehydrogenase very long chain) at chromosome 17, position 7222865—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['ACADVL-related_disorder', 'Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGA... | CCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGA... | pathogenic | 262,291 |
Assess the variant on chromosome 17, position 7223156, impacting ACADVL (acyl-CoA dehydrogenase very long chain): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | AGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCC... | AGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCC... | pathogenic | 262,301 |
Clinically, how would you classify the variant at chromosome 17, position 7223167, gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | TTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAA... | TTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAA... | pathogenic | 262,303 |
Does the chromosome 17 mutation at position 7223193 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'] | CTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGT... | CTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGT... | pathogenic | 262,304 |
Clinically, how would you classify the variant at chromosome 17, position 7223198, gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCC... | GTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCC... | pathogenic | 262,305 |
Chromosome 17, position 7223653, gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | AGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTT... | AGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTT... | pathogenic | 262,311 |
Variant at chromosome 17, position 7223703, gene ACADVL (acyl-CoA dehydrogenase very long chain): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGT... | GAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGT... | pathogenic | 262,317 |
Regarding the variant found on chromosome 17 at position 7223711 in gene ACADVL (acyl-CoA dehydrogenase very long chain): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGA... | CCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGA... | pathogenic | 262,320 |
Does the variant impacting ACADVL (acyl-CoA dehydrogenase very long chain) on chromosome 17, position 7223824, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | ATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCC... | ATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCC... | pathogenic | 262,324 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 7223853, 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'] | CATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCC... | CATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCC... | pathogenic | 262,328 |
Is the genetic variant on chromosome 17, position 7223853, gene ACADVL (acyl-CoA dehydrogenase very long chain), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCC... | CATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCC... | pathogenic | 262,329 |
Variant chromosome 17, position 7223859, gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? Disease(s)? | pathogenic; ['ACADVL-related_disorder', 'Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | AGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCC... | AGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCC... | pathogenic | 262,331 |
Gene mutation in ACADVL (acyl-CoA dehydrogenase very long chain) at chromosome 17, position 7223859—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | AGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCC... | AGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCC... | pathogenic | 262,332 |
Clinical classification of chromosome 17, position 7224002, gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTG... | GAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTG... | pathogenic | 262,340 |
Does the variant impacting ACADVL (acyl-CoA dehydrogenase very long chain) on chromosome 17, position 7224008, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAG... | GTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAG... | pathogenic | 262,342 |
Variant at chromosome 17, position 7224020, gene ACADVL (acyl-CoA dehydrogenase very long chain): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | TGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGG... | TGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGG... | pathogenic | 262,346 |
Variant chromosome 17, position 7224043, gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? Disease(s)? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTT... | GTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTT... | pathogenic | 262,349 |
Is the variant located on chromosome 17 at position 7224148, gene ACADVL (acyl-CoA dehydrogenase very long chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAA... | CTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAA... | pathogenic | 262,350 |
Variant chromosome 17, position 7224207, gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? Disease(s)? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | TATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAA... | TATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAA... | pathogenic | 262,353 |
Considering the genetic mutation at chromosome 17, position 7224217, impacting ACADVL (acyl-CoA dehydrogenase very long chain): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | TTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACA... | TTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACA... | pathogenic | 262,354 |
Variant at chromosome 17, position 7224320, gene ACADVL (acyl-CoA dehydrogenase very long chain): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | TGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAG... | TGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAG... | pathogenic | 262,362 |
Benign or pathogenic: chromosome 17, position 7224379, gene ACADVL (acyl-CoA dehydrogenase very long chain) variant? Disease(s) if pathogenic? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCA... | GGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCA... | pathogenic | 262,366 |
Does the variant impacting ACADVL (acyl-CoA dehydrogenase very long chain) on chromosome 17, position 7224476, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | TTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGA... | TTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGA... | pathogenic | 262,371 |
Mutation found at chromosome 17 position 7224479, gene ACADVL (acyl-CoA dehydrogenase very long chain): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAA... | GGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAA... | pathogenic | 262,372 |
Chromosome 17, position 7224485, gene ACADVL (acyl-CoA dehydrogenase very long chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | ATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCT... | ATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCT... | pathogenic | 262,373 |
Mutation at chromosome 17, position 7224503, 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'] | TAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGG... | TAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGG... | pathogenic | 262,374 |
A genetic alteration at chromosome 17, position 7224643, in gene ACADVL (acyl-CoA dehydrogenase very long chain)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTG... | CGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTG... | pathogenic | 262,378 |
Is chromosome 17, position 7224645, gene ACADVL (acyl-CoA dehydrogenase very long chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | AAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTC... | AAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTC... | pathogenic | 262,379 |
Variant in ACADVL (acyl-CoA dehydrogenase very long chain), chromosome 17, position 7224684—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | ACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCC... | ACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCC... | pathogenic | 262,381 |
Benign or pathogenic: chromosome 17, position 7224690, gene ACADVL (acyl-CoA dehydrogenase very long chain) variant? Disease(s) if pathogenic? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACT... | GCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACT... | pathogenic | 262,382 |
Does the variant impacting ACADVL (acyl-CoA dehydrogenase very long chain) on chromosome 17, position 7224692, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | TTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAG... | TTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAG... | pathogenic | 262,383 |
Gene mutation in ACADVL (acyl-CoA dehydrogenase very long chain) at chromosome 17, position 7224804—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | TGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTC... | TGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTC... | pathogenic | 262,388 |
Does the variant impacting ACADVL (acyl-CoA dehydrogenase very long chain) on chromosome 17, position 7224822, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAAC... | GCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAAC... | pathogenic | 262,390 |
Variant on chromosome 17, at position 7224860, affecting ACADVL (acyl-CoA dehydrogenase very long chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['ACADVL-related_disorder', 'Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | TTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCA... | TTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCA... | pathogenic | 262,392 |
Is chromosome 17, position 7224967, gene ACADVL (acyl-CoA dehydrogenase very long chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | CCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGG... | CCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGG... | pathogenic | 262,398 |
Evaluate if the mutation on chromosome 17 at position 7225036 in ACADVL (acyl-CoA dehydrogenase very long chain) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Very_long_chain_acyl-CoA_dehydrogenase_deficiency'] | GACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCC... | GACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCC... | pathogenic | 262,404 |
Variant in gene CHRNB1 (cholinergic receptor nicotinic beta 1 subunit), located at chromosome 17 position 7454357: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Congenital_myasthenic_syndrome_2A'] | CAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCT... | CAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCT... | pathogenic | 262,466 |
Variant at chromosome position 7455781, chromosome 17, gene CHRNB1 (cholinergic receptor nicotinic beta 1 subunit): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Congenital_myasthenic_syndrome_2A'] | ATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGAC... | ATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGAC... | pathogenic | 262,477 |
Assess the variant on chromosome 17, position 7668169, impacting TP53 (tumor protein p53): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GCAATGGCGCAATCTCGGCTCACTGCAACCCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGATCCACCGTGCCTGGCCGGAAATGTTTTCTAAATAAAAAAATAGAACATATTGATTTAAGGTTGTGAATTACAAGTTTAGACTGAAGCCATGAGGAAATTGGGAGATTTGATTTCAGATCTCATTAGGATAAGGCCTGGGCTCTTTGAGTGGGAGGGTAGGGAACATGTCTGCCATAGGTTTCCAGGGCCTAGAACAGCTCCTGGCACAGGGTAAGGTACCAAT... | GCAATGGCGCAATCTCGGCTCACTGCAACCCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGATCCACCGTGCCTGGCCGGAAATGTTTTCTAAATAAAAAAATAGAACATATTGATTTAAGGTTGTGAATTACAAGTTTAGACTGAAGCCATGAGGAAATTGGGAGATTTGATTTCAGATCTCATTAGGATAAGGCCTGGGCTCTTTGAGTGGGAGGGTAGGGAACATGTCTGCCATAGGTTTCCAGGGCCTAGAACAGCTCCTGGCACAGGGTAAGGTACCAAT... | benign | 262,547 |
For chromosome 17, position 7670588, gene TP53 (tumor protein p53): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | ACCCTTCCAGCTGGACGTGGTGGCTCACAATTGTAATCCCAGCACTCTGGGAGGCTGAGACAGGTGGATCGCCTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACTGTGAGACCCCATCTCTACAAAACATGCAAAAGTTGGCTGGCCATGGTGGCATGAACCTGTGGTCCCAGCTACTCCGGAGGCTGAGGCAGGACTGCTCGAGCCGGGGAGGCAAAGGCTGCAGTAAGCCAAGATCACGCCACTCCACTCCAGCCTGGGCAACAAAGCGAGACCCAGTCTCAAAGAAAAAGAAAAAAAAAAAAAAAAAAGAAAA... | ACCCTTCCAGCTGGACGTGGTGGCTCACAATTGTAATCCCAGCACTCTGGGAGGCTGAGACAGGTGGATCGCCTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACTGTGAGACCCCATCTCTACAAAACATGCAAAAGTTGGCTGGCCATGGTGGCATGAACCTGTGGTCCCAGCTACTCCGGAGGCTGAGGCAGGACTGCTCGAGCCGGGGAGGCAAAGGCTGCAGTAAGCCAAGATCACGCCACTCCACTCCAGCCTGGGCAACAAAGCGAGACCCAGTCTCAAAGAAAAAGAAAAAAAAAAAAAAAAAAGAAAA... | benign | 262,581 |
Is chromosome 17, position 7670625, gene TP53 (tumor protein p53) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bone_marrow_failure_syndrome_5', 'Diamond-Blackfan_anemia'] | CCCAGCACTCTGGGAGGCTGAGACAGGTGGATCGCCTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACTGTGAGACCCCATCTCTACAAAACATGCAAAAGTTGGCTGGCCATGGTGGCATGAACCTGTGGTCCCAGCTACTCCGGAGGCTGAGGCAGGACTGCTCGAGCCGGGGAGGCAAAGGCTGCAGTAAGCCAAGATCACGCCACTCCACTCCAGCCTGGGCAACAAAGCGAGACCCAGTCTCAAAGAAAAAGAAAAAAAAAAAAAAAAAAGAAAAAAGAAATTGACCCTGAGCATAAAACAAGTCTTGGTGG... | CCCAGCACTCTGGGAGGCTGAGACAGGTGGATCGCCTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACTGTGAGACCCCATCTCTACAAAACATGCAAAAGTTGGCTGGCCATGGTGGCATGAACCTGTGGTCCCAGCTACTCCGGAGGCTGAGGCAGGACTGCTCGAGCCGGGGAGGCAAAGGCTGCAGTAAGCCAAGATCACGCCACTCCACTCCAGCCTGGGCAACAAAGCGAGACCCAGTCTCAAAGAAAAAGAAAAAAAAAAAAAAAAAAGAAAAAAGAAATTGACCCTGAGCATAAAACAAGTCTTGGTGG... | pathogenic | 262,590 |
A genetic variant at chromosome 17, position 7670631, affecting gene TP53 (tumor protein p53)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Bone_marrow_failure_syndrome_5', 'Diamond-Blackfan_anemia', 'Hereditary_cancer-predisposing_syndrome'] | ACTCTGGGAGGCTGAGACAGGTGGATCGCCTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACTGTGAGACCCCATCTCTACAAAACATGCAAAAGTTGGCTGGCCATGGTGGCATGAACCTGTGGTCCCAGCTACTCCGGAGGCTGAGGCAGGACTGCTCGAGCCGGGGAGGCAAAGGCTGCAGTAAGCCAAGATCACGCCACTCCACTCCAGCCTGGGCAACAAAGCGAGACCCAGTCTCAAAGAAAAAGAAAAAAAAAAAAAAAAAAGAAAAAAGAAATTGACCCTGAGCATAAAACAAGTCTTGGTGGATCCAG... | ACTCTGGGAGGCTGAGACAGGTGGATCGCCTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACTGTGAGACCCCATCTCTACAAAACATGCAAAAGTTGGCTGGCCATGGTGGCATGAACCTGTGGTCCCAGCTACTCCGGAGGCTGAGGCAGGACTGCTCGAGCCGGGGAGGCAAAGGCTGCAGTAAGCCAAGATCACGCCACTCCACTCCAGCCTGGGCAACAAAGCGAGACCCAGTCTCAAAGAAAAAGAAAAAAAAAAAAAAAAAAGAAAAAAGAAATTGACCCTGAGCATAAAACAAGTCTTGGTGGATCCAG... | pathogenic | 262,594 |
Benign or pathogenic: chromosome 17, position 7670680, gene TP53 (tumor protein p53) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome'] | CCAGCCTGGGCAACACTGTGAGACCCCATCTCTACAAAACATGCAAAAGTTGGCTGGCCATGGTGGCATGAACCTGTGGTCCCAGCTACTCCGGAGGCTGAGGCAGGACTGCTCGAGCCGGGGAGGCAAAGGCTGCAGTAAGCCAAGATCACGCCACTCCACTCCAGCCTGGGCAACAAAGCGAGACCCAGTCTCAAAGAAAAAGAAAAAAAAAAAAAAAAAAGAAAAAAGAAATTGACCCTGAGCATAAAACAAGTCTTGGTGGATCCAGATCATCATATACAAGAGATGAAATCCTCCAGGGTGTGGGATGGGGTGAG... | CCAGCCTGGGCAACACTGTGAGACCCCATCTCTACAAAACATGCAAAAGTTGGCTGGCCATGGTGGCATGAACCTGTGGTCCCAGCTACTCCGGAGGCTGAGGCAGGACTGCTCGAGCCGGGGAGGCAAAGGCTGCAGTAAGCCAAGATCACGCCACTCCACTCCAGCCTGGGCAACAAAGCGAGACCCAGTCTCAAAGAAAAAGAAAAAAAAAAAAAAAAAAGAAAAAAGAAATTGACCCTGAGCATAAAACAAGTCTTGGTGGATCCAGATCATCATATACAAGAGATGAAATCCTCCAGGGTGTGGGATGGGGTGAG... | pathogenic | 262,607 |
Variant on chromosome 17, at position 7670684, affecting TP53 (tumor protein p53): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome', 'Li-Fraumeni_syndrome_1', 'Ovarian_neoplasm'] | CCTGGGCAACACTGTGAGACCCCATCTCTACAAAACATGCAAAAGTTGGCTGGCCATGGTGGCATGAACCTGTGGTCCCAGCTACTCCGGAGGCTGAGGCAGGACTGCTCGAGCCGGGGAGGCAAAGGCTGCAGTAAGCCAAGATCACGCCACTCCACTCCAGCCTGGGCAACAAAGCGAGACCCAGTCTCAAAGAAAAAGAAAAAAAAAAAAAAAAAAGAAAAAAGAAATTGACCCTGAGCATAAAACAAGTCTTGGTGGATCCAGATCATCATATACAAGAGATGAAATCCTCCAGGGTGTGGGATGGGGTGAGATTT... | CCTGGGCAACACTGTGAGACCCCATCTCTACAAAACATGCAAAAGTTGGCTGGCCATGGTGGCATGAACCTGTGGTCCCAGCTACTCCGGAGGCTGAGGCAGGACTGCTCGAGCCGGGGAGGCAAAGGCTGCAGTAAGCCAAGATCACGCCACTCCACTCCAGCCTGGGCAACAAAGCGAGACCCAGTCTCAAAGAAAAAGAAAAAAAAAAAAAAAAAAGAAAAAAGAAATTGACCCTGAGCATAAAACAAGTCTTGGTGGATCCAGATCATCATATACAAGAGATGAAATCCTCCAGGGTGTGGGATGGGGTGAGATTT... | pathogenic | 262,611 |
A genetic variant at chromosome 17, position 7670711, affecting gene TP53 (tumor protein p53)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome', 'Li-Fraumeni_syndrome_1'] | CTACAAAACATGCAAAAGTTGGCTGGCCATGGTGGCATGAACCTGTGGTCCCAGCTACTCCGGAGGCTGAGGCAGGACTGCTCGAGCCGGGGAGGCAAAGGCTGCAGTAAGCCAAGATCACGCCACTCCACTCCAGCCTGGGCAACAAAGCGAGACCCAGTCTCAAAGAAAAAGAAAAAAAAAAAAAAAAAAGAAAAAAGAAATTGACCCTGAGCATAAAACAAGTCTTGGTGGATCCAGATCATCATATACAAGAGATGAAATCCTCCAGGGTGTGGGATGGGGTGAGATTTCCTTTTAGGTACTAAGGTTCACCAAGA... | CTACAAAACATGCAAAAGTTGGCTGGCCATGGTGGCATGAACCTGTGGTCCCAGCTACTCCGGAGGCTGAGGCAGGACTGCTCGAGCCGGGGAGGCAAAGGCTGCAGTAAGCCAAGATCACGCCACTCCACTCCAGCCTGGGCAACAAAGCGAGACCCAGTCTCAAAGAAAAAGAAAAAAAAAAAAAAAAAAGAAAAAAGAAATTGACCCTGAGCATAAAACAAGTCTTGGTGGATCCAGATCATCATATACAAGAGATGAAATCCTCCAGGGTGTGGGATGGGGTGAGATTTCCTTTTAGGTACTAAGGTTCACCAAGA... | pathogenic | 262,627 |
Evaluate the clinical significance of the mutation at chromosome 17, position 7673193 in gene TP53 (tumor protein p53): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TACAGGTGTGAGCCACTGTGCCCGGCCCTTTTTTAAATTTTAGAGATGATGTCTTGCTATGTTGTTCAGGCTGGACTCAAACTCTTGGGCTCAAGAGATCCTCCTGCCTTAGCCTCTCAAGTAACTGGGACTACATGTGCATGCGACTGTGCCTCGTTTCTTTTCTTTTTTTTCTGAGACGGAGTCTCACTCTATCGCCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCCCTGCAACCTCCGCCTCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCATCACGCCCGGT... | TACAGGTGTGAGCCACTGTGCCCGGCCCTTTTTTAAATTTTAGAGATGATGTCTTGCTATGTTGTTCAGGCTGGACTCAAACTCTTGGGCTCAAGAGATCCTCCTGCCTTAGCCTCTCAAGTAACTGGGACTACATGTGCATGCGACTGTGCCTCGTTTCTTTTCTTTTTTTTCTGAGACGGAGTCTCACTCTATCGCCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCCCTGCAACCTCCGCCTCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCATCACGCCCGGT... | benign | 262,638 |
Does the chromosome 17 mutation at position 7673533 within gene TP53 (tumor protein p53) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome'] | AGACGGGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCGAAATGCTGGGATTACAGGCGTGAGCCAGTGCGCCTGGCCTTTTCTTTTTTTGAGTCTCGCTCTGCGCCCAGGCTGTGCCTGGCTCGACTGTGCCTCCTTTCATGCAACCATGCTGTTTCTCACTTTCAGTAACAATATTCAATAAATCACATGAGATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTC... | AGACGGGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCGAAATGCTGGGATTACAGGCGTGAGCCAGTGCGCCTGGCCTTTTCTTTTTTTGAGTCTCGCTCTGCGCCCAGGCTGTGCCTGGCTCGACTGTGCCTCCTTTCATGCAACCATGCTGTTTCTCACTTTCAGTAACAATATTCAATAAATCACATGAGATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTC... | pathogenic | 262,649 |
Benign or pathogenic: chromosome 17, position 7673539, gene TP53 (tumor protein p53) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome', 'Li-Fraumeni_syndrome_1'] | GGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCGAAATGCTGGGATTACAGGCGTGAGCCAGTGCGCCTGGCCTTTTCTTTTTTTGAGTCTCGCTCTGCGCCCAGGCTGTGCCTGGCTCGACTGTGCCTCCTTTCATGCAACCATGCTGTTTCTCACTTTCAGTAACAATATTCAATAAATCACATGAGATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAG... | GGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCGAAATGCTGGGATTACAGGCGTGAGCCAGTGCGCCTGGCCTTTTCTTTTTTTGAGTCTCGCTCTGCGCCCAGGCTGTGCCTGGCTCGACTGTGCCTCCTTTCATGCAACCATGCTGTTTCTCACTTTCAGTAACAATATTCAATAAATCACATGAGATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAG... | pathogenic | 262,654 |
Assess the variant on chromosome 17, position 7673544, impacting TP53 (tumor protein p53): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome', 'Li-Fraumeni_syndrome_1'] | CACCATGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCGAAATGCTGGGATTACAGGCGTGAGCCAGTGCGCCTGGCCTTTTCTTTTTTTGAGTCTCGCTCTGCGCCCAGGCTGTGCCTGGCTCGACTGTGCCTCCTTTCATGCAACCATGCTGTTTCTCACTTTCAGTAACAATATTCAATAAATCACATGAGATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAG... | CACCATGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCGAAATGCTGGGATTACAGGCGTGAGCCAGTGCGCCTGGCCTTTTCTTTTTTTGAGTCTCGCTCTGCGCCCAGGCTGTGCCTGGCTCGACTGTGCCTCCTTTCATGCAACCATGCTGTTTCTCACTTTCAGTAACAATATTCAATAAATCACATGAGATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAG... | pathogenic | 262,656 |
Gene mutation in TP53 (tumor protein p53) at chromosome 17, position 7673581—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome'] | CAGGTGATCCACCCGCCTCAGCCTCCCGAAATGCTGGGATTACAGGCGTGAGCCAGTGCGCCTGGCCTTTTCTTTTTTTGAGTCTCGCTCTGCGCCCAGGCTGTGCCTGGCTCGACTGTGCCTCCTTTCATGCAACCATGCTGTTTCTCACTTTCAGTAACAATATTCAATAAATCACATGAGATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATAC... | CAGGTGATCCACCCGCCTCAGCCTCCCGAAATGCTGGGATTACAGGCGTGAGCCAGTGCGCCTGGCCTTTTCTTTTTTTGAGTCTCGCTCTGCGCCCAGGCTGTGCCTGGCTCGACTGTGCCTCCTTTCATGCAACCATGCTGTTTCTCACTTTCAGTAACAATATTCAATAAATCACATGAGATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATAC... | pathogenic | 262,670 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.