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 |
|---|---|---|---|---|---|
Variant in NEB, chromosome 2, position 151492461—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | AGGTGGTGGTCTGGTGCTTCTGAATGCTCAGACTTCTCCTCACCCCCACTGATGCTTAGTGCACTGGCAGATCGTGACTGCTCCCGGCTCCGGCGCTGAGCTTGGACTGGGAGAGATGCAGTTGGGGGAGATGTAGCAAACATGAAATTTCTATGGTAGTAATGCCTAACAGTGATTGAATCTCAGTTATTGTTATCTTTGCCAAGCATGGTTTTAAGTACTTTCCCATGGGTCAAACCCTCACAGTTATTCTGATGTAGGTTTGTCTTTCTTATTTTTACAGATGAGAGCTTACGTACATGACCAAAGGTCATGGAACA... | AGGTGGTGGTCTGGTGCTTCTGAATGCTCAGACTTCTCCTCACCCCCACTGATGCTTAGTGCACTGGCAGATCGTGACTGCTCCCGGCTCCGGCGCTGAGCTTGGACTGGGAGAGATGCAGTTGGGGGAGATGTAGCAAACATGAAATTTCTATGGTAGTAATGCCTAACAGTGATTGAATCTCAGTTATTGTTATCTTTGCCAAGCATGGTTTTAAGTACTTTCCCATGGGTCAAACCCTCACAGTTATTCTGATGTAGGTTTGTCTTTCTTATTTTTACAGATGAGAGCTTACGTACATGACCAAAGGTCATGGAACA... | pathogenic | 43,388 |
Benign or pathogenic: chromosome 2, position 151493381, gene NEB variant? Disease(s) if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | CTCAGGAAGTTCCTACAGGTCAAATCCTTTCTCTTCCCTTTGCCTATGTATTTTATGTATTTTCATTATTTCTCCAATAGAATTACTACTGTTTTTTCTTTGGAAGAAAAATTAGAAATGATAATAATGGGAGACATGCACTGAGGCAGTGAAACAAAATTTTTTCTAACTTGAACTTATCTAGAAAGTAAGTTTTGCTCACTAGTTAACAAGGTATTTTTATGCCAAATGGGCAGCTCAGAAAATGGAAAACTCTGGAGGGAAGGAACTTCAGAGCCCAAATGAAAGTCATTGACTCTAGCATACTAAATGGTGATGTT... | CTCAGGAAGTTCCTACAGGTCAAATCCTTTCTCTTCCCTTTGCCTATGTATTTTATGTATTTTCATTATTTCTCCAATAGAATTACTACTGTTTTTTCTTTGGAAGAAAAATTAGAAATGATAATAATGGGAGACATGCACTGAGGCAGTGAAACAAAATTTTTTCTAACTTGAACTTATCTAGAAAGTAAGTTTTGCTCACTAGTTAACAAGGTATTTTTATGCCAAATGGGCAGCTCAGAAAATGGAAAACTCTGGAGGGAAGGAACTTCAGAGCCCAAATGAAAGTCATTGACTCTAGCATACTAAATGGTGATGTT... | pathogenic | 43,391 |
Evaluate the clinical significance of the mutation at chromosome 2, position 151493386 in gene NEB: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | GAAGTTCCTACAGGTCAAATCCTTTCTCTTCCCTTTGCCTATGTATTTTATGTATTTTCATTATTTCTCCAATAGAATTACTACTGTTTTTTCTTTGGAAGAAAAATTAGAAATGATAATAATGGGAGACATGCACTGAGGCAGTGAAACAAAATTTTTTCTAACTTGAACTTATCTAGAAAGTAAGTTTTGCTCACTAGTTAACAAGGTATTTTTATGCCAAATGGGCAGCTCAGAAAATGGAAAACTCTGGAGGGAAGGAACTTCAGAGCCCAAATGAAAGTCATTGACTCTAGCATACTAAATGGTGATGTTTATGT... | GAAGTTCCTACAGGTCAAATCCTTTCTCTTCCCTTTGCCTATGTATTTTATGTATTTTCATTATTTCTCCAATAGAATTACTACTGTTTTTTCTTTGGAAGAAAAATTAGAAATGATAATAATGGGAGACATGCACTGAGGCAGTGAAACAAAATTTTTTCTAACTTGAACTTATCTAGAAAGTAAGTTTTGCTCACTAGTTAACAAGGTATTTTTATGCCAAATGGGCAGCTCAGAAAATGGAAAACTCTGGAGGGAAGGAACTTCAGAGCCCAAATGAAAGTCATTGACTCTAGCATACTAAATGGTGATGTTTATGT... | pathogenic | 43,392 |
Mutation found at chromosome 2 position 151493780, gene NEB: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | ATAGTCAAAAACCGAACCAGGATTAGTACGCCAGACACGTAAACCTGAAAGGGAAACCAGTGATCAGAACAAGTGTTCTTGGAGTTTTCCAATAACTTGAAAACCAAGGCATGAATTTTAACAACCACCAAAGGATTGAATCACACTTATTCCAGCTTAGGTTCTGGGTCATGTCTTTTCCTCAGAGGAGAACAAAGATAAGGTAGAAATCAGCTTTGTAAACTATGAGATAATAGGAGCTTTCTTGCACCTCTAGAAAAACAGATTGAAGTCCTTTATGTTTTGACTTGATGTAGGTAATGCTACTTTTGTTCTTCTAC... | ATAGTCAAAAACCGAACCAGGATTAGTACGCCAGACACGTAAACCTGAAAGGGAAACCAGTGATCAGAACAAGTGTTCTTGGAGTTTTCCAATAACTTGAAAACCAAGGCATGAATTTTAACAACCACCAAAGGATTGAATCACACTTATTCCAGCTTAGGTTCTGGGTCATGTCTTTTCCTCAGAGGAGAACAAAGATAAGGTAGAAATCAGCTTTGTAAACTATGAGATAATAGGAGCTTTCTTGCACCTCTAGAAAAACAGATTGAAGTCCTTTATGTTTTGACTTGATGTAGGTAATGCTACTTTTGTTCTTCTAC... | pathogenic | 43,395 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 151493780, gene NEB. What disease(s) is it linked to if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Nemaline_myopathy_2'] | ATAGTCAAAAACCGAACCAGGATTAGTACGCCAGACACGTAAACCTGAAAGGGAAACCAGTGATCAGAACAAGTGTTCTTGGAGTTTTCCAATAACTTGAAAACCAAGGCATGAATTTTAACAACCACCAAAGGATTGAATCACACTTATTCCAGCTTAGGTTCTGGGTCATGTCTTTTCCTCAGAGGAGAACAAAGATAAGGTAGAAATCAGCTTTGTAAACTATGAGATAATAGGAGCTTTCTTGCACCTCTAGAAAAACAGATTGAAGTCCTTTATGTTTTGACTTGATGTAGGTAATGCTACTTTTGTTCTTCTAC... | ATAGTCAAAAACCGAACCAGGATTAGTACGCCAGACACGTAAACCTGAAAGGGAAACCAGTGATCAGAACAAGTGTTCTTGGAGTTTTCCAATAACTTGAAAACCAAGGCATGAATTTTAACAACCACCAAAGGATTGAATCACACTTATTCCAGCTTAGGTTCTGGGTCATGTCTTTTCCTCAGAGGAGAACAAAGATAAGGTAGAAATCAGCTTTGTAAACTATGAGATAATAGGAGCTTTCTTGCACCTCTAGAAAAACAGATTGAAGTCCTTTATGTTTTGACTTGATGTAGGTAATGCTACTTTTGTTCTTCTAC... | pathogenic | 43,396 |
Benign or pathogenic: chromosome 2, position 151493806, gene NEB variant? Disease(s) if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TACGCCAGACACGTAAACCTGAAAGGGAAACCAGTGATCAGAACAAGTGTTCTTGGAGTTTTCCAATAACTTGAAAACCAAGGCATGAATTTTAACAACCACCAAAGGATTGAATCACACTTATTCCAGCTTAGGTTCTGGGTCATGTCTTTTCCTCAGAGGAGAACAAAGATAAGGTAGAAATCAGCTTTGTAAACTATGAGATAATAGGAGCTTTCTTGCACCTCTAGAAAAACAGATTGAAGTCCTTTATGTTTTGACTTGATGTAGGTAATGCTACTTTTGTTCTTCTACCCCCTCACTTAAAGTTAATCCCCTCC... | TACGCCAGACACGTAAACCTGAAAGGGAAACCAGTGATCAGAACAAGTGTTCTTGGAGTTTTCCAATAACTTGAAAACCAAGGCATGAATTTTAACAACCACCAAAGGATTGAATCACACTTATTCCAGCTTAGGTTCTGGGTCATGTCTTTTCCTCAGAGGAGAACAAAGATAAGGTAGAAATCAGCTTTGTAAACTATGAGATAATAGGAGCTTTCTTGCACCTCTAGAAAAACAGATTGAAGTCCTTTATGTTTTGACTTGATGTAGGTAATGCTACTTTTGTTCTTCTACCCCCTCACTTAAAGTTAATCCCCTCC... | pathogenic | 43,397 |
The mutation impacting NEB on chromosome 2 at position 151494184: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TCCATTTCTACCACTTTCCTCTGAATACCTCGGTAGTTAATGTCACTGAAGTCCTGCATGTTCTTCTTTACTCGTTCAGTGATAGGATCTGTCACCACTGGTGTGAAGCAACCCTTGTGTTTCTCAAAGTCTTCATGATATTTCACCTGAAATGTCATGAATTTGCTTTATGAAAATATGATGGTGTGACTATATCCCTTTTTACACATTCTGACAGGCAGCCAGCCAATCCTAAAGAATTCCTGACTCACCGTTGAGATGTGCCGTTGGGTCTCCCTCACCCGTCTCATCTCGGGGGTATCCAATACATAGGCAGCTTT... | TCCATTTCTACCACTTTCCTCTGAATACCTCGGTAGTTAATGTCACTGAAGTCCTGCATGTTCTTCTTTACTCGTTCAGTGATAGGATCTGTCACCACTGGTGTGAAGCAACCCTTGTGTTTCTCAAAGTCTTCATGATATTTCACCTGAAATGTCATGAATTTGCTTTATGAAAATATGATGGTGTGACTATATCCCTTTTTACACATTCTGACAGGCAGCCAGCCAATCCTAAAGAATTCCTGACTCACCGTTGAGATGTGCCGTTGGGTCTCCCTCACCCGTCTCATCTCGGGGGTATCCAATACATAGGCAGCTTT... | pathogenic | 43,402 |
Considering the genetic mutation at chromosome 2, position 151494189, impacting NEB: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | TTCTACCACTTTCCTCTGAATACCTCGGTAGTTAATGTCACTGAAGTCCTGCATGTTCTTCTTTACTCGTTCAGTGATAGGATCTGTCACCACTGGTGTGAAGCAACCCTTGTGTTTCTCAAAGTCTTCATGATATTTCACCTGAAATGTCATGAATTTGCTTTATGAAAATATGATGGTGTGACTATATCCCTTTTTACACATTCTGACAGGCAGCCAGCCAATCCTAAAGAATTCCTGACTCACCGTTGAGATGTGCCGTTGGGTCTCCCTCACCCGTCTCATCTCGGGGGTATCCAATACATAGGCAGCTTTGCCTT... | TTCTACCACTTTCCTCTGAATACCTCGGTAGTTAATGTCACTGAAGTCCTGCATGTTCTTCTTTACTCGTTCAGTGATAGGATCTGTCACCACTGGTGTGAAGCAACCCTTGTGTTTCTCAAAGTCTTCATGATATTTCACCTGAAATGTCATGAATTTGCTTTATGAAAATATGATGGTGTGACTATATCCCTTTTTACACATTCTGACAGGCAGCCAGCCAATCCTAAAGAATTCCTGACTCACCGTTGAGATGTGCCGTTGGGTCTCCCTCACCCGTCTCATCTCGGGGGTATCCAATACATAGGCAGCTTTGCCTT... | pathogenic | 43,403 |
Variant in NEB, chromosome 2, position 151494211—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Abnormality_of_the_neck', 'Arthrogryposis_multiplex_congenita_6', 'Dysphagia', 'Low-set_ears', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | CCTCGGTAGTTAATGTCACTGAAGTCCTGCATGTTCTTCTTTACTCGTTCAGTGATAGGATCTGTCACCACTGGTGTGAAGCAACCCTTGTGTTTCTCAAAGTCTTCATGATATTTCACCTGAAATGTCATGAATTTGCTTTATGAAAATATGATGGTGTGACTATATCCCTTTTTACACATTCTGACAGGCAGCCAGCCAATCCTAAAGAATTCCTGACTCACCGTTGAGATGTGCCGTTGGGTCTCCCTCACCCGTCTCATCTCGGGGGTATCCAATACATAGGCAGCTTTGCCTTGTATTTGTTTCCGGAAACTATC... | CCTCGGTAGTTAATGTCACTGAAGTCCTGCATGTTCTTCTTTACTCGTTCAGTGATAGGATCTGTCACCACTGGTGTGAAGCAACCCTTGTGTTTCTCAAAGTCTTCATGATATTTCACCTGAAATGTCATGAATTTGCTTTATGAAAATATGATGGTGTGACTATATCCCTTTTTACACATTCTGACAGGCAGCCAGCCAATCCTAAAGAATTCCTGACTCACCGTTGAGATGTGCCGTTGGGTCTCCCTCACCCGTCTCATCTCGGGGGTATCCAATACATAGGCAGCTTTGCCTTGTATTTGTTTCCGGAAACTATC... | pathogenic | 43,405 |
Is the genetic variant on chromosome 2, position 151494218, gene NEB, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Nemaline_myopathy'] | AGTTAATGTCACTGAAGTCCTGCATGTTCTTCTTTACTCGTTCAGTGATAGGATCTGTCACCACTGGTGTGAAGCAACCCTTGTGTTTCTCAAAGTCTTCATGATATTTCACCTGAAATGTCATGAATTTGCTTTATGAAAATATGATGGTGTGACTATATCCCTTTTTACACATTCTGACAGGCAGCCAGCCAATCCTAAAGAATTCCTGACTCACCGTTGAGATGTGCCGTTGGGTCTCCCTCACCCGTCTCATCTCGGGGGTATCCAATACATAGGCAGCTTTGCCTTGTATTTGTTTCCGGAAACTATCAGAATAA... | AGTTAATGTCACTGAAGTCCTGCATGTTCTTCTTTACTCGTTCAGTGATAGGATCTGTCACCACTGGTGTGAAGCAACCCTTGTGTTTCTCAAAGTCTTCATGATATTTCACCTGAAATGTCATGAATTTGCTTTATGAAAATATGATGGTGTGACTATATCCCTTTTTACACATTCTGACAGGCAGCCAGCCAATCCTAAAGAATTCCTGACTCACCGTTGAGATGTGCCGTTGGGTCTCCCTCACCCGTCTCATCTCGGGGGTATCCAATACATAGGCAGCTTTGCCTTGTATTTGTTTCCGGAAACTATCAGAATAA... | pathogenic | 43,406 |
Variant in gene NEB, located at chromosome 2 position 151494236: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | CCTGCATGTTCTTCTTTACTCGTTCAGTGATAGGATCTGTCACCACTGGTGTGAAGCAACCCTTGTGTTTCTCAAAGTCTTCATGATATTTCACCTGAAATGTCATGAATTTGCTTTATGAAAATATGATGGTGTGACTATATCCCTTTTTACACATTCTGACAGGCAGCCAGCCAATCCTAAAGAATTCCTGACTCACCGTTGAGATGTGCCGTTGGGTCTCCCTCACCCGTCTCATCTCGGGGGTATCCAATACATAGGCAGCTTTGCCTTGTATTTGTTTCCGGAAACTATCAGAATAAAGAACCTGATGCAGGAGA... | CCTGCATGTTCTTCTTTACTCGTTCAGTGATAGGATCTGTCACCACTGGTGTGAAGCAACCCTTGTGTTTCTCAAAGTCTTCATGATATTTCACCTGAAATGTCATGAATTTGCTTTATGAAAATATGATGGTGTGACTATATCCCTTTTTACACATTCTGACAGGCAGCCAGCCAATCCTAAAGAATTCCTGACTCACCGTTGAGATGTGCCGTTGGGTCTCCCTCACCCGTCTCATCTCGGGGGTATCCAATACATAGGCAGCTTTGCCTTGTATTTGTTTCCGGAAACTATCAGAATAAAGAACCTGATGCAGGAGA... | pathogenic | 43,408 |
Variant at chromosome 2, position 151496363, gene NEB: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | GGAAATGGTACAGATAACTTTTGATTATCTTTAGGGCCCCAAACCATTTGGGCAATTAGGTTAGATGGAAAGTAGTATGTTTCCTAAGGAAGTTAAGTGTAGTTACAGCAAGACACAACCAGGATAGGCACCTGCCCTGAAACCCTTGAGGACTGCAAGAGAGACCTGTGGTGTTCCTCAAAAGGATGAGAAACCACCATCATTTTACCGCTAGTCTCTCAATGTCAAGCCCCTGAGAGATGATCCAAACAGGAGTTACAGGCATGAGCTTCAATCACACTGAGAAGGTTGAGGCTGTTCCTAATACATCAGCTGTTTGT... | GGAAATGGTACAGATAACTTTTGATTATCTTTAGGGCCCCAAACCATTTGGGCAATTAGGTTAGATGGAAAGTAGTATGTTTCCTAAGGAAGTTAAGTGTAGTTACAGCAAGACACAACCAGGATAGGCACCTGCCCTGAAACCCTTGAGGACTGCAAGAGAGACCTGTGGTGTTCCTCAAAAGGATGAGAAACCACCATCATTTTACCGCTAGTCTCTCAATGTCAAGCCCCTGAGAGATGATCCAAACAGGAGTTACAGGCATGAGCTTCAATCACACTGAGAAGGTTGAGGCTGTTCCTAATACATCAGCTGTTTGT... | pathogenic | 43,413 |
Gene NEB variant at chromosome position 151496959 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy'] | GTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCCACAGCAGCTGTTTTTTTACTGGACTGTTTTGCAGCACTTAAACTCTCATAGACATATCAGTAAAACTGTAGGCCCTCAGACAAAGCAAAGGGTTTCCCCTACCCTCTTTTTCTTTGCTATCCTCTATGCTCTGCCTCTTGCTTTAGTTTCATACAACATTCAGCTTATCATTAAGGAATAAGGTTTTTGGCTCTTATATCACTATCATGGCGAATCAGTGGAAAATGAGAAACATAGTAACACATCATGATAAATCCTCAACCTCGGTATCTCCCCTCAGTG... | GTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCCACAGCAGCTGTTTTTTTACTGGACTGTTTTGCAGCACTTAAACTCTCATAGACATATCAGTAAAACTGTAGGCCCTCAGACAAAGCAAAGGGTTTCCCCTACCCTCTTTTTCTTTGCTATCCTCTATGCTCTGCCTCTTGCTTTAGTTTCATACAACATTCAGCTTATCATTAAGGAATAAGGTTTTTGGCTCTTATATCACTATCATGGCGAATCAGTGGAAAATGAGAAACATAGTAACACATCATGATAAATCCTCAACCTCGGTATCTCCCCTCAGTG... | pathogenic | 43,417 |
Is chromosome 2, position 151496962, gene NEB variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | CTGGGATTACAGGCGTGAGCCACCACACCTGGCCCACAGCAGCTGTTTTTTTACTGGACTGTTTTGCAGCACTTAAACTCTCATAGACATATCAGTAAAACTGTAGGCCCTCAGACAAAGCAAAGGGTTTCCCCTACCCTCTTTTTCTTTGCTATCCTCTATGCTCTGCCTCTTGCTTTAGTTTCATACAACATTCAGCTTATCATTAAGGAATAAGGTTTTTGGCTCTTATATCACTATCATGGCGAATCAGTGGAAAATGAGAAACATAGTAACACATCATGATAAATCCTCAACCTCGGTATCTCCCCTCAGTGTCA... | CTGGGATTACAGGCGTGAGCCACCACACCTGGCCCACAGCAGCTGTTTTTTTACTGGACTGTTTTGCAGCACTTAAACTCTCATAGACATATCAGTAAAACTGTAGGCCCTCAGACAAAGCAAAGGGTTTCCCCTACCCTCTTTTTCTTTGCTATCCTCTATGCTCTGCCTCTTGCTTTAGTTTCATACAACATTCAGCTTATCATTAAGGAATAAGGTTTTTGGCTCTTATATCACTATCATGGCGAATCAGTGGAAAATGAGAAACATAGTAACACATCATGATAAATCCTCAACCTCGGTATCTCCCCTCAGTGTCA... | pathogenic | 43,418 |
Evaluate this variant at chromosome 2, position 151496969, gene NEB: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TACAGGCGTGAGCCACCACACCTGGCCCACAGCAGCTGTTTTTTTACTGGACTGTTTTGCAGCACTTAAACTCTCATAGACATATCAGTAAAACTGTAGGCCCTCAGACAAAGCAAAGGGTTTCCCCTACCCTCTTTTTCTTTGCTATCCTCTATGCTCTGCCTCTTGCTTTAGTTTCATACAACATTCAGCTTATCATTAAGGAATAAGGTTTTTGGCTCTTATATCACTATCATGGCGAATCAGTGGAAAATGAGAAACATAGTAACACATCATGATAAATCCTCAACCTCGGTATCTCCCCTCAGTGTCATTCTTGG... | TACAGGCGTGAGCCACCACACCTGGCCCACAGCAGCTGTTTTTTTACTGGACTGTTTTGCAGCACTTAAACTCTCATAGACATATCAGTAAAACTGTAGGCCCTCAGACAAAGCAAAGGGTTTCCCCTACCCTCTTTTTCTTTGCTATCCTCTATGCTCTGCCTCTTGCTTTAGTTTCATACAACATTCAGCTTATCATTAAGGAATAAGGTTTTTGGCTCTTATATCACTATCATGGCGAATCAGTGGAAAATGAGAAACATAGTAACACATCATGATAAATCCTCAACCTCGGTATCTCCCCTCAGTGTCATTCTTGG... | pathogenic | 43,419 |
Regarding the variant at chromosome 2 and position 151496969, affecting gene NEB: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TACAGGCGTGAGCCACCACACCTGGCCCACAGCAGCTGTTTTTTTACTGGACTGTTTTGCAGCACTTAAACTCTCATAGACATATCAGTAAAACTGTAGGCCCTCAGACAAAGCAAAGGGTTTCCCCTACCCTCTTTTTCTTTGCTATCCTCTATGCTCTGCCTCTTGCTTTAGTTTCATACAACATTCAGCTTATCATTAAGGAATAAGGTTTTTGGCTCTTATATCACTATCATGGCGAATCAGTGGAAAATGAGAAACATAGTAACACATCATGATAAATCCTCAACCTCGGTATCTCCCCTCAGTGTCATTCTTGG... | TACAGGCGTGAGCCACCACACCTGGCCCACAGCAGCTGTTTTTTTACTGGACTGTTTTGCAGCACTTAAACTCTCATAGACATATCAGTAAAACTGTAGGCCCTCAGACAAAGCAAAGGGTTTCCCCTACCCTCTTTTTCTTTGCTATCCTCTATGCTCTGCCTCTTGCTTTAGTTTCATACAACATTCAGCTTATCATTAAGGAATAAGGTTTTTGGCTCTTATATCACTATCATGGCGAATCAGTGGAAAATGAGAAACATAGTAACACATCATGATAAATCCTCAACCTCGGTATCTCCCCTCAGTGTCATTCTTGG... | pathogenic | 43,420 |
Evaluate the clinical significance of the mutation at chromosome 2, position 151496975 in gene NEB: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | CGTGAGCCACCACACCTGGCCCACAGCAGCTGTTTTTTTACTGGACTGTTTTGCAGCACTTAAACTCTCATAGACATATCAGTAAAACTGTAGGCCCTCAGACAAAGCAAAGGGTTTCCCCTACCCTCTTTTTCTTTGCTATCCTCTATGCTCTGCCTCTTGCTTTAGTTTCATACAACATTCAGCTTATCATTAAGGAATAAGGTTTTTGGCTCTTATATCACTATCATGGCGAATCAGTGGAAAATGAGAAACATAGTAACACATCATGATAAATCCTCAACCTCGGTATCTCCCCTCAGTGTCATTCTTGGAAACGT... | CGTGAGCCACCACACCTGGCCCACAGCAGCTGTTTTTTTACTGGACTGTTTTGCAGCACTTAAACTCTCATAGACATATCAGTAAAACTGTAGGCCCTCAGACAAAGCAAAGGGTTTCCCCTACCCTCTTTTTCTTTGCTATCCTCTATGCTCTGCCTCTTGCTTTAGTTTCATACAACATTCAGCTTATCATTAAGGAATAAGGTTTTTGGCTCTTATATCACTATCATGGCGAATCAGTGGAAAATGAGAAACATAGTAACACATCATGATAAATCCTCAACCTCGGTATCTCCCCTCAGTGTCATTCTTGGAAACGT... | pathogenic | 43,421 |
Is the genetic variant on chromosome 2, position 151496977, gene NEB, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | TGAGCCACCACACCTGGCCCACAGCAGCTGTTTTTTTACTGGACTGTTTTGCAGCACTTAAACTCTCATAGACATATCAGTAAAACTGTAGGCCCTCAGACAAAGCAAAGGGTTTCCCCTACCCTCTTTTTCTTTGCTATCCTCTATGCTCTGCCTCTTGCTTTAGTTTCATACAACATTCAGCTTATCATTAAGGAATAAGGTTTTTGGCTCTTATATCACTATCATGGCGAATCAGTGGAAAATGAGAAACATAGTAACACATCATGATAAATCCTCAACCTCGGTATCTCCCCTCAGTGTCATTCTTGGAAACGTGG... | TGAGCCACCACACCTGGCCCACAGCAGCTGTTTTTTTACTGGACTGTTTTGCAGCACTTAAACTCTCATAGACATATCAGTAAAACTGTAGGCCCTCAGACAAAGCAAAGGGTTTCCCCTACCCTCTTTTTCTTTGCTATCCTCTATGCTCTGCCTCTTGCTTTAGTTTCATACAACATTCAGCTTATCATTAAGGAATAAGGTTTTTGGCTCTTATATCACTATCATGGCGAATCAGTGGAAAATGAGAAACATAGTAACACATCATGATAAATCCTCAACCTCGGTATCTCCCCTCAGTGTCATTCTTGGAAACGTGG... | pathogenic | 43,422 |
Clinical significance of chromosome 2, position 151496991, gene NEB: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'NEB-related_disorder', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | TGGCCCACAGCAGCTGTTTTTTTACTGGACTGTTTTGCAGCACTTAAACTCTCATAGACATATCAGTAAAACTGTAGGCCCTCAGACAAAGCAAAGGGTTTCCCCTACCCTCTTTTTCTTTGCTATCCTCTATGCTCTGCCTCTTGCTTTAGTTTCATACAACATTCAGCTTATCATTAAGGAATAAGGTTTTTGGCTCTTATATCACTATCATGGCGAATCAGTGGAAAATGAGAAACATAGTAACACATCATGATAAATCCTCAACCTCGGTATCTCCCCTCAGTGTCATTCTTGGAAACGTGGGAGATTTAGGAAAT... | TGGCCCACAGCAGCTGTTTTTTTACTGGACTGTTTTGCAGCACTTAAACTCTCATAGACATATCAGTAAAACTGTAGGCCCTCAGACAAAGCAAAGGGTTTCCCCTACCCTCTTTTTCTTTGCTATCCTCTATGCTCTGCCTCTTGCTTTAGTTTCATACAACATTCAGCTTATCATTAAGGAATAAGGTTTTTGGCTCTTATATCACTATCATGGCGAATCAGTGGAAAATGAGAAACATAGTAACACATCATGATAAATCCTCAACCTCGGTATCTCCCCTCAGTGTCATTCTTGGAAACGTGGGAGATTTAGGAAAT... | pathogenic | 43,423 |
Benign or pathogenic: chromosome 2, position 151497028, gene NEB variant? Disease(s) if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | CAGCACTTAAACTCTCATAGACATATCAGTAAAACTGTAGGCCCTCAGACAAAGCAAAGGGTTTCCCCTACCCTCTTTTTCTTTGCTATCCTCTATGCTCTGCCTCTTGCTTTAGTTTCATACAACATTCAGCTTATCATTAAGGAATAAGGTTTTTGGCTCTTATATCACTATCATGGCGAATCAGTGGAAAATGAGAAACATAGTAACACATCATGATAAATCCTCAACCTCGGTATCTCCCCTCAGTGTCATTCTTGGAAACGTGGGAGATTTAGGAAATGACATTGAAGAGGAAGAATTCTGTTGAAATAGTGATT... | CAGCACTTAAACTCTCATAGACATATCAGTAAAACTGTAGGCCCTCAGACAAAGCAAAGGGTTTCCCCTACCCTCTTTTTCTTTGCTATCCTCTATGCTCTGCCTCTTGCTTTAGTTTCATACAACATTCAGCTTATCATTAAGGAATAAGGTTTTTGGCTCTTATATCACTATCATGGCGAATCAGTGGAAAATGAGAAACATAGTAACACATCATGATAAATCCTCAACCTCGGTATCTCCCCTCAGTGTCATTCTTGGAAACGTGGGAGATTTAGGAAATGACATTGAAGAGGAAGAATTCTGTTGAAATAGTGATT... | pathogenic | 43,424 |
Is the variant located on chromosome 2 at position 151497640, gene NEB, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | ATAATGTCACAGAGCACAAGCTTACGGGAAATGGTTTACTAAAGTTTGCAGTTAAAGACTACAGTAAAACTAAAGAACAACAACAACAACAAACAAAAAACGAAAACTGGTAAAACAAAAAGCCATTCTGGTGACACTTTCATTTTTAAGTAAGTAAATTGATAATCAATAATTGCCAAAACTACTATTGGATCATAATTTATATCATTATTCTTGAAGGAGGGGATCAGGGATTATTTTTCCCAAGGTCTCTTTGTCCAAATCTGACAGGGTAAATTAGAACCTGAAGTCATTGACACAAAAACACAACAAAATCATAT... | ATAATGTCACAGAGCACAAGCTTACGGGAAATGGTTTACTAAAGTTTGCAGTTAAAGACTACAGTAAAACTAAAGAACAACAACAACAACAAACAAAAAACGAAAACTGGTAAAACAAAAAGCCATTCTGGTGACACTTTCATTTTTAAGTAAGTAAATTGATAATCAATAATTGCCAAAACTACTATTGGATCATAATTTATATCATTATTCTTGAAGGAGGGGATCAGGGATTATTTTTCCCAAGGTCTCTTTGTCCAAATCTGACAGGGTAAATTAGAACCTGAAGTCATTGACACAAAAACACAACAAAATCATAT... | pathogenic | 43,428 |
Classify the chromosome 2 variant at position 151497647 affecting gene NEB as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | CACAGAGCACAAGCTTACGGGAAATGGTTTACTAAAGTTTGCAGTTAAAGACTACAGTAAAACTAAAGAACAACAACAACAACAAACAAAAAACGAAAACTGGTAAAACAAAAAGCCATTCTGGTGACACTTTCATTTTTAAGTAAGTAAATTGATAATCAATAATTGCCAAAACTACTATTGGATCATAATTTATATCATTATTCTTGAAGGAGGGGATCAGGGATTATTTTTCCCAAGGTCTCTTTGTCCAAATCTGACAGGGTAAATTAGAACCTGAAGTCATTGACACAAAAACACAACAAAATCATATTTAAGAA... | CACAGAGCACAAGCTTACGGGAAATGGTTTACTAAAGTTTGCAGTTAAAGACTACAGTAAAACTAAAGAACAACAACAACAACAAACAAAAAACGAAAACTGGTAAAACAAAAAGCCATTCTGGTGACACTTTCATTTTTAAGTAAGTAAATTGATAATCAATAATTGCCAAAACTACTATTGGATCATAATTTATATCATTATTCTTGAAGGAGGGGATCAGGGATTATTTTTCCCAAGGTCTCTTTGTCCAAATCTGACAGGGTAAATTAGAACCTGAAGTCATTGACACAAAAACACAACAAAATCATATTTAAGAA... | pathogenic | 43,429 |
Is the genetic change at chromosome 2, position 151497651, within gene NEB benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | GAGCACAAGCTTACGGGAAATGGTTTACTAAAGTTTGCAGTTAAAGACTACAGTAAAACTAAAGAACAACAACAACAACAAACAAAAAACGAAAACTGGTAAAACAAAAAGCCATTCTGGTGACACTTTCATTTTTAAGTAAGTAAATTGATAATCAATAATTGCCAAAACTACTATTGGATCATAATTTATATCATTATTCTTGAAGGAGGGGATCAGGGATTATTTTTCCCAAGGTCTCTTTGTCCAAATCTGACAGGGTAAATTAGAACCTGAAGTCATTGACACAAAAACACAACAAAATCATATTTAAGAAAGAG... | GAGCACAAGCTTACGGGAAATGGTTTACTAAAGTTTGCAGTTAAAGACTACAGTAAAACTAAAGAACAACAACAACAACAAACAAAAAACGAAAACTGGTAAAACAAAAAGCCATTCTGGTGACACTTTCATTTTTAAGTAAGTAAATTGATAATCAATAATTGCCAAAACTACTATTGGATCATAATTTATATCATTATTCTTGAAGGAGGGGATCAGGGATTATTTTTCCCAAGGTCTCTTTGTCCAAATCTGACAGGGTAAATTAGAACCTGAAGTCATTGACACAAAAACACAACAAAATCATATTTAAGAAAGAG... | pathogenic | 43,430 |
The genetic variant at chromosome 2, position 151497655, affecting gene NEB: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | ACAAGCTTACGGGAAATGGTTTACTAAAGTTTGCAGTTAAAGACTACAGTAAAACTAAAGAACAACAACAACAACAAACAAAAAACGAAAACTGGTAAAACAAAAAGCCATTCTGGTGACACTTTCATTTTTAAGTAAGTAAATTGATAATCAATAATTGCCAAAACTACTATTGGATCATAATTTATATCATTATTCTTGAAGGAGGGGATCAGGGATTATTTTTCCCAAGGTCTCTTTGTCCAAATCTGACAGGGTAAATTAGAACCTGAAGTCATTGACACAAAAACACAACAAAATCATATTTAAGAAAGAGCCGC... | ACAAGCTTACGGGAAATGGTTTACTAAAGTTTGCAGTTAAAGACTACAGTAAAACTAAAGAACAACAACAACAACAAACAAAAAACGAAAACTGGTAAAACAAAAAGCCATTCTGGTGACACTTTCATTTTTAAGTAAGTAAATTGATAATCAATAATTGCCAAAACTACTATTGGATCATAATTTATATCATTATTCTTGAAGGAGGGGATCAGGGATTATTTTTCCCAAGGTCTCTTTGTCCAAATCTGACAGGGTAAATTAGAACCTGAAGTCATTGACACAAAAACACAACAAAATCATATTTAAGAAAGAGCCGC... | pathogenic | 43,431 |
Does the chromosome 2 mutation at position 151497655 within gene NEB classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'NEB-related_disorder', 'Nemaline_myopathy_2'] | ACAAGCTTACGGGAAATGGTTTACTAAAGTTTGCAGTTAAAGACTACAGTAAAACTAAAGAACAACAACAACAACAAACAAAAAACGAAAACTGGTAAAACAAAAAGCCATTCTGGTGACACTTTCATTTTTAAGTAAGTAAATTGATAATCAATAATTGCCAAAACTACTATTGGATCATAATTTATATCATTATTCTTGAAGGAGGGGATCAGGGATTATTTTTCCCAAGGTCTCTTTGTCCAAATCTGACAGGGTAAATTAGAACCTGAAGTCATTGACACAAAAACACAACAAAATCATATTTAAGAAAGAGCCGC... | ACAAGCTTACGGGAAATGGTTTACTAAAGTTTGCAGTTAAAGACTACAGTAAAACTAAAGAACAACAACAACAACAAACAAAAAACGAAAACTGGTAAAACAAAAAGCCATTCTGGTGACACTTTCATTTTTAAGTAAGTAAATTGATAATCAATAATTGCCAAAACTACTATTGGATCATAATTTATATCATTATTCTTGAAGGAGGGGATCAGGGATTATTTTTCCCAAGGTCTCTTTGTCCAAATCTGACAGGGTAAATTAGAACCTGAAGTCATTGACACAAAAACACAACAAAATCATATTTAAGAAAGAGCCGC... | pathogenic | 43,432 |
Does the variant on chromosome 2 at location 151497713 affecting gene NEB have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | AGAACAACAACAACAACAAACAAAAAACGAAAACTGGTAAAACAAAAAGCCATTCTGGTGACACTTTCATTTTTAAGTAAGTAAATTGATAATCAATAATTGCCAAAACTACTATTGGATCATAATTTATATCATTATTCTTGAAGGAGGGGATCAGGGATTATTTTTCCCAAGGTCTCTTTGTCCAAATCTGACAGGGTAAATTAGAACCTGAAGTCATTGACACAAAAACACAACAAAATCATATTTAAGAAAGAGCCGCATTGGACCTACTCCACCACCCCACACGTACCCGTCCTAAATTTCAAGCATATCTAAAA... | AGAACAACAACAACAACAAACAAAAAACGAAAACTGGTAAAACAAAAAGCCATTCTGGTGACACTTTCATTTTTAAGTAAGTAAATTGATAATCAATAATTGCCAAAACTACTATTGGATCATAATTTATATCATTATTCTTGAAGGAGGGGATCAGGGATTATTTTTCCCAAGGTCTCTTTGTCCAAATCTGACAGGGTAAATTAGAACCTGAAGTCATTGACACAAAAACACAACAAAATCATATTTAAGAAAGAGCCGCATTGGACCTACTCCACCACCCCACACGTACCCGTCCTAAATTTCAAGCATATCTAAAA... | pathogenic | 43,435 |
Variant at chromosome position 151497713, chromosome 2, gene NEB: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | AGAACAACAACAACAACAAACAAAAAACGAAAACTGGTAAAACAAAAAGCCATTCTGGTGACACTTTCATTTTTAAGTAAGTAAATTGATAATCAATAATTGCCAAAACTACTATTGGATCATAATTTATATCATTATTCTTGAAGGAGGGGATCAGGGATTATTTTTCCCAAGGTCTCTTTGTCCAAATCTGACAGGGTAAATTAGAACCTGAAGTCATTGACACAAAAACACAACAAAATCATATTTAAGAAAGAGCCGCATTGGACCTACTCCACCACCCCACACGTACCCGTCCTAAATTTCAAGCATATCTAAAA... | AGAACAACAACAACAACAAACAAAAAACGAAAACTGGTAAAACAAAAAGCCATTCTGGTGACACTTTCATTTTTAAGTAAGTAAATTGATAATCAATAATTGCCAAAACTACTATTGGATCATAATTTATATCATTATTCTTGAAGGAGGGGATCAGGGATTATTTTTCCCAAGGTCTCTTTGTCCAAATCTGACAGGGTAAATTAGAACCTGAAGTCATTGACACAAAAACACAACAAAATCATATTTAAGAAAGAGCCGCATTGGACCTACTCCACCACCCCACACGTACCCGTCCTAAATTTCAAGCATATCTAAAA... | pathogenic | 43,436 |
Variant chromosome 2, position 151497713, gene NEB: benign or pathogenic? Disease(s)? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | AGAACAACAACAACAACAAACAAAAAACGAAAACTGGTAAAACAAAAAGCCATTCTGGTGACACTTTCATTTTTAAGTAAGTAAATTGATAATCAATAATTGCCAAAACTACTATTGGATCATAATTTATATCATTATTCTTGAAGGAGGGGATCAGGGATTATTTTTCCCAAGGTCTCTTTGTCCAAATCTGACAGGGTAAATTAGAACCTGAAGTCATTGACACAAAAACACAACAAAATCATATTTAAGAAAGAGCCGCATTGGACCTACTCCACCACCCCACACGTACCCGTCCTAAATTTCAAGCATATCTAAAA... | AGAACAACAACAACAACAAACAAAAAACGAAAACTGGTAAAACAAAAAGCCATTCTGGTGACACTTTCATTTTTAAGTAAGTAAATTGATAATCAATAATTGCCAAAACTACTATTGGATCATAATTTATATCATTATTCTTGAAGGAGGGGATCAGGGATTATTTTTCCCAAGGTCTCTTTGTCCAAATCTGACAGGGTAAATTAGAACCTGAAGTCATTGACACAAAAACACAACAAAATCATATTTAAGAAAGAGCCGCATTGGACCTACTCCACCACCCCACACGTACCCGTCCTAAATTTCAAGCATATCTAAAA... | pathogenic | 43,437 |
Assess the variant on chromosome 2, position 151498274, impacting NEB: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | AAGTAGTTTTTAAAATCAGTAAGTAGTTTTTTTCTTTTCTCGCCAAGTACCGAGCTAATATTTTCTTGATTGTGTTTGACTCGCTCCATCTCGGGAGTGACAGCTAAAGGAGTTCCCTTGCCCATGTTTTCTTTGTATAACACCTGTGCGATGAGAAAGCATCCAGAAAAACAACCATGAGTAACATTTCATTTGTTGAGAGGTTTTAAGGGTAAGGTCAACTTCCTTGTTAAGAAAACACAGTCGTCCAAGGAGCCAGAAGTTATATGCTGACAAAATGCCACCAGCTACTTTAGTGGAAGCTGTTGTTGGGATGGGGA... | AAGTAGTTTTTAAAATCAGTAAGTAGTTTTTTTCTTTTCTCGCCAAGTACCGAGCTAATATTTTCTTGATTGTGTTTGACTCGCTCCATCTCGGGAGTGACAGCTAAAGGAGTTCCCTTGCCCATGTTTTCTTTGTATAACACCTGTGCGATGAGAAAGCATCCAGAAAAACAACCATGAGTAACATTTCATTTGTTGAGAGGTTTTAAGGGTAAGGTCAACTTCCTTGTTAAGAAAACACAGTCGTCCAAGGAGCCAGAAGTTATATGCTGACAAAATGCCACCAGCTACTTTAGTGGAAGCTGTTGTTGGGATGGGGA... | pathogenic | 43,442 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 151498281, gene NEB: what disease(s) if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TTTTAAAATCAGTAAGTAGTTTTTTTCTTTTCTCGCCAAGTACCGAGCTAATATTTTCTTGATTGTGTTTGACTCGCTCCATCTCGGGAGTGACAGCTAAAGGAGTTCCCTTGCCCATGTTTTCTTTGTATAACACCTGTGCGATGAGAAAGCATCCAGAAAAACAACCATGAGTAACATTTCATTTGTTGAGAGGTTTTAAGGGTAAGGTCAACTTCCTTGTTAAGAAAACACAGTCGTCCAAGGAGCCAGAAGTTATATGCTGACAAAATGCCACCAGCTACTTTAGTGGAAGCTGTTGTTGGGATGGGGAATCTGCA... | TTTTAAAATCAGTAAGTAGTTTTTTTCTTTTCTCGCCAAGTACCGAGCTAATATTTTCTTGATTGTGTTTGACTCGCTCCATCTCGGGAGTGACAGCTAAAGGAGTTCCCTTGCCCATGTTTTCTTTGTATAACACCTGTGCGATGAGAAAGCATCCAGAAAAACAACCATGAGTAACATTTCATTTGTTGAGAGGTTTTAAGGGTAAGGTCAACTTCCTTGTTAAGAAAACACAGTCGTCCAAGGAGCCAGAAGTTATATGCTGACAAAATGCCACCAGCTACTTTAGTGGAAGCTGTTGTTGGGATGGGGAATCTGCA... | pathogenic | 43,443 |
A mutation at chromosome position 151498287 on chromosome 2 in gene NEB: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | AATCAGTAAGTAGTTTTTTTCTTTTCTCGCCAAGTACCGAGCTAATATTTTCTTGATTGTGTTTGACTCGCTCCATCTCGGGAGTGACAGCTAAAGGAGTTCCCTTGCCCATGTTTTCTTTGTATAACACCTGTGCGATGAGAAAGCATCCAGAAAAACAACCATGAGTAACATTTCATTTGTTGAGAGGTTTTAAGGGTAAGGTCAACTTCCTTGTTAAGAAAACACAGTCGTCCAAGGAGCCAGAAGTTATATGCTGACAAAATGCCACCAGCTACTTTAGTGGAAGCTGTTGTTGGGATGGGGAATCTGCACCCTCT... | AATCAGTAAGTAGTTTTTTTCTTTTCTCGCCAAGTACCGAGCTAATATTTTCTTGATTGTGTTTGACTCGCTCCATCTCGGGAGTGACAGCTAAAGGAGTTCCCTTGCCCATGTTTTCTTTGTATAACACCTGTGCGATGAGAAAGCATCCAGAAAAACAACCATGAGTAACATTTCATTTGTTGAGAGGTTTTAAGGGTAAGGTCAACTTCCTTGTTAAGAAAACACAGTCGTCCAAGGAGCCAGAAGTTATATGCTGACAAAATGCCACCAGCTACTTTAGTGGAAGCTGTTGTTGGGATGGGGAATCTGCACCCTCT... | pathogenic | 43,444 |
The chromosome 2, position 151498288 genetic variant in gene NEB: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | ATCAGTAAGTAGTTTTTTTCTTTTCTCGCCAAGTACCGAGCTAATATTTTCTTGATTGTGTTTGACTCGCTCCATCTCGGGAGTGACAGCTAAAGGAGTTCCCTTGCCCATGTTTTCTTTGTATAACACCTGTGCGATGAGAAAGCATCCAGAAAAACAACCATGAGTAACATTTCATTTGTTGAGAGGTTTTAAGGGTAAGGTCAACTTCCTTGTTAAGAAAACACAGTCGTCCAAGGAGCCAGAAGTTATATGCTGACAAAATGCCACCAGCTACTTTAGTGGAAGCTGTTGTTGGGATGGGGAATCTGCACCCTCTA... | ATCAGTAAGTAGTTTTTTTCTTTTCTCGCCAAGTACCGAGCTAATATTTTCTTGATTGTGTTTGACTCGCTCCATCTCGGGAGTGACAGCTAAAGGAGTTCCCTTGCCCATGTTTTCTTTGTATAACACCTGTGCGATGAGAAAGCATCCAGAAAAACAACCATGAGTAACATTTCATTTGTTGAGAGGTTTTAAGGGTAAGGTCAACTTCCTTGTTAAGAAAACACAGTCGTCCAAGGAGCCAGAAGTTATATGCTGACAAAATGCCACCAGCTACTTTAGTGGAAGCTGTTGTTGGGATGGGGAATCTGCACCCTCTA... | pathogenic | 43,445 |
Is the variant located on chromosome 2 at position 151499312, gene NEB, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TCAGAGTTATCCATGTTATTTTTTTTTTTCCTTTTTTGTGAGTACCATGCCTCCTAAACAATTATATGAGGATTTGAGACAGTTAGAACTCAGTGGTGTTATCCACACAAACTGAAAAACTCATTATTTTAAAAAAAAGATTGAAAATACCAGATGAAATAAAAAATTGAAATTAACTGTATTATAGAAATGGGAATGGTGTTAGGCTAGAAGTAGCCCAAAGGAAAAAAGGATAAATTTGCTAAAGAAATTCACAAAATTTAAGTTGTCTTTAAAAAGTAGGATTAATACGTATTATTTTAAATCATGAAAGTTTTCAA... | TCAGAGTTATCCATGTTATTTTTTTTTTTCCTTTTTTGTGAGTACCATGCCTCCTAAACAATTATATGAGGATTTGAGACAGTTAGAACTCAGTGGTGTTATCCACACAAACTGAAAAACTCATTATTTTAAAAAAAAGATTGAAAATACCAGATGAAATAAAAAATTGAAATTAACTGTATTATAGAAATGGGAATGGTGTTAGGCTAGAAGTAGCCCAAAGGAAAAAAGGATAAATTTGCTAAAGAAATTCACAAAATTTAAGTTGTCTTTAAAAAGTAGGATTAATACGTATTATTTTAAATCATGAAAGTTTTCAA... | pathogenic | 43,451 |
Evaluate if the mutation on chromosome 2 at position 151499319 in NEB is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | TATCCATGTTATTTTTTTTTTTCCTTTTTTGTGAGTACCATGCCTCCTAAACAATTATATGAGGATTTGAGACAGTTAGAACTCAGTGGTGTTATCCACACAAACTGAAAAACTCATTATTTTAAAAAAAAGATTGAAAATACCAGATGAAATAAAAAATTGAAATTAACTGTATTATAGAAATGGGAATGGTGTTAGGCTAGAAGTAGCCCAAAGGAAAAAAGGATAAATTTGCTAAAGAAATTCACAAAATTTAAGTTGTCTTTAAAAAGTAGGATTAATACGTATTATTTTAAATCATGAAAGTTTTCAAAATCATT... | TATCCATGTTATTTTTTTTTTTCCTTTTTTGTGAGTACCATGCCTCCTAAACAATTATATGAGGATTTGAGACAGTTAGAACTCAGTGGTGTTATCCACACAAACTGAAAAACTCATTATTTTAAAAAAAAGATTGAAAATACCAGATGAAATAAAAAATTGAAATTAACTGTATTATAGAAATGGGAATGGTGTTAGGCTAGAAGTAGCCCAAAGGAAAAAAGGATAAATTTGCTAAAGAAATTCACAAAATTTAAGTTGTCTTTAAAAAGTAGGATTAATACGTATTATTTTAAATCATGAAAGTTTTCAAAATCATT... | pathogenic | 43,452 |
A genetic alteration at chromosome 2, position 151499339, in gene NEB—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TTCCTTTTTTGTGAGTACCATGCCTCCTAAACAATTATATGAGGATTTGAGACAGTTAGAACTCAGTGGTGTTATCCACACAAACTGAAAAACTCATTATTTTAAAAAAAAGATTGAAAATACCAGATGAAATAAAAAATTGAAATTAACTGTATTATAGAAATGGGAATGGTGTTAGGCTAGAAGTAGCCCAAAGGAAAAAAGGATAAATTTGCTAAAGAAATTCACAAAATTTAAGTTGTCTTTAAAAAGTAGGATTAATACGTATTATTTTAAATCATGAAAGTTTTCAAAATCATTAAATAAGTAGTTTTTTTCTT... | TTCCTTTTTTGTGAGTACCATGCCTCCTAAACAATTATATGAGGATTTGAGACAGTTAGAACTCAGTGGTGTTATCCACACAAACTGAAAAACTCATTATTTTAAAAAAAAGATTGAAAATACCAGATGAAATAAAAAATTGAAATTAACTGTATTATAGAAATGGGAATGGTGTTAGGCTAGAAGTAGCCCAAAGGAAAAAAGGATAAATTTGCTAAAGAAATTCACAAAATTTAAGTTGTCTTTAAAAAGTAGGATTAATACGTATTATTTTAAATCATGAAAGTTTTCAAAATCATTAAATAAGTAGTTTTTTTCTT... | pathogenic | 43,453 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 151499360, gene NEB: what disease(s) if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy'] | GCCTCCTAAACAATTATATGAGGATTTGAGACAGTTAGAACTCAGTGGTGTTATCCACACAAACTGAAAAACTCATTATTTTAAAAAAAAGATTGAAAATACCAGATGAAATAAAAAATTGAAATTAACTGTATTATAGAAATGGGAATGGTGTTAGGCTAGAAGTAGCCCAAAGGAAAAAAGGATAAATTTGCTAAAGAAATTCACAAAATTTAAGTTGTCTTTAAAAAGTAGGATTAATACGTATTATTTTAAATCATGAAAGTTTTCAAAATCATTAAATAAGTAGTTTTTTTCTTTTCTTGCCAAAGTACCGAGCT... | GCCTCCTAAACAATTATATGAGGATTTGAGACAGTTAGAACTCAGTGGTGTTATCCACACAAACTGAAAAACTCATTATTTTAAAAAAAAGATTGAAAATACCAGATGAAATAAAAAATTGAAATTAACTGTATTATAGAAATGGGAATGGTGTTAGGCTAGAAGTAGCCCAAAGGAAAAAAGGATAAATTTGCTAAAGAAATTCACAAAATTTAAGTTGTCTTTAAAAAGTAGGATTAATACGTATTATTTTAAATCATGAAAGTTTTCAAAATCATTAAATAAGTAGTTTTTTTCTTTTCTTGCCAAAGTACCGAGCT... | pathogenic | 43,456 |
The genetic variant at chromosome 2, position 151499383, affecting gene NEB: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | ATTTGAGACAGTTAGAACTCAGTGGTGTTATCCACACAAACTGAAAAACTCATTATTTTAAAAAAAAGATTGAAAATACCAGATGAAATAAAAAATTGAAATTAACTGTATTATAGAAATGGGAATGGTGTTAGGCTAGAAGTAGCCCAAAGGAAAAAAGGATAAATTTGCTAAAGAAATTCACAAAATTTAAGTTGTCTTTAAAAAGTAGGATTAATACGTATTATTTTAAATCATGAAAGTTTTCAAAATCATTAAATAAGTAGTTTTTTTCTTTTCTTGCCAAAGTACCGAGCTAATATTTTCTTGATTGTGTTTGA... | ATTTGAGACAGTTAGAACTCAGTGGTGTTATCCACACAAACTGAAAAACTCATTATTTTAAAAAAAAGATTGAAAATACCAGATGAAATAAAAAATTGAAATTAACTGTATTATAGAAATGGGAATGGTGTTAGGCTAGAAGTAGCCCAAAGGAAAAAAGGATAAATTTGCTAAAGAAATTCACAAAATTTAAGTTGTCTTTAAAAAGTAGGATTAATACGTATTATTTTAAATCATGAAAGTTTTCAAAATCATTAAATAAGTAGTTTTTTTCTTTTCTTGCCAAAGTACCGAGCTAATATTTTCTTGATTGTGTTTGA... | pathogenic | 43,457 |
Gene mutation in NEB at chromosome 2, position 151501405—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | GAATCCCTTTTCCAACGTTTTCTTTATACAACACCTGTATGACACAAGAAAGCATCCAGAAAAAACAAGAGCAGTCAAAACAGCCCTTTCATCTACCTTGTGGGGAACCTGGTATAAAACTACAGACGTCAGACAGAAAAGACAGATTCAACAAGTCAACCTCTCTGTTCAGGCACAGATCTGGGTGAGAACATGTTTTGTATTTCCTTAGTGAAATATCAGTGTATTTGATATTCATCATCTTTTTATTGTAACTTGAATATATTTATTTCCTGTGCCAGGAATTAAGGAAAAAAATACAAATAATTTCCTAAGACCAC... | GAATCCCTTTTCCAACGTTTTCTTTATACAACACCTGTATGACACAAGAAAGCATCCAGAAAAAACAAGAGCAGTCAAAACAGCCCTTTCATCTACCTTGTGGGGAACCTGGTATAAAACTACAGACGTCAGACAGAAAAGACAGATTCAACAAGTCAACCTCTCTGTTCAGGCACAGATCTGGGTGAGAACATGTTTTGTATTTCCTTAGTGAAATATCAGTGTATTTGATATTCATCATCTTTTTATTGTAACTTGAATATATTTATTTCCTGTGCCAGGAATTAAGGAAAAAAATACAAATAATTTCCTAAGACCAC... | pathogenic | 43,460 |
Benign or pathogenic: chromosome 2, position 151501409, gene NEB variant? Disease(s) if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | CCCTTTTCCAACGTTTTCTTTATACAACACCTGTATGACACAAGAAAGCATCCAGAAAAAACAAGAGCAGTCAAAACAGCCCTTTCATCTACCTTGTGGGGAACCTGGTATAAAACTACAGACGTCAGACAGAAAAGACAGATTCAACAAGTCAACCTCTCTGTTCAGGCACAGATCTGGGTGAGAACATGTTTTGTATTTCCTTAGTGAAATATCAGTGTATTTGATATTCATCATCTTTTTATTGTAACTTGAATATATTTATTTCCTGTGCCAGGAATTAAGGAAAAAAATACAAATAATTTCCTAAGACCACTAAA... | CCCTTTTCCAACGTTTTCTTTATACAACACCTGTATGACACAAGAAAGCATCCAGAAAAAACAAGAGCAGTCAAAACAGCCCTTTCATCTACCTTGTGGGGAACCTGGTATAAAACTACAGACGTCAGACAGAAAAGACAGATTCAACAAGTCAACCTCTCTGTTCAGGCACAGATCTGGGTGAGAACATGTTTTGTATTTCCTTAGTGAAATATCAGTGTATTTGATATTCATCATCTTTTTATTGTAACTTGAATATATTTATTTCCTGTGCCAGGAATTAAGGAAAAAAATACAAATAATTTCCTAAGACCACTAAA... | pathogenic | 43,462 |
Is the genetic mutation found on chromosome 2 at position 151501410, within the gene NEB, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | CCTTTTCCAACGTTTTCTTTATACAACACCTGTATGACACAAGAAAGCATCCAGAAAAAACAAGAGCAGTCAAAACAGCCCTTTCATCTACCTTGTGGGGAACCTGGTATAAAACTACAGACGTCAGACAGAAAAGACAGATTCAACAAGTCAACCTCTCTGTTCAGGCACAGATCTGGGTGAGAACATGTTTTGTATTTCCTTAGTGAAATATCAGTGTATTTGATATTCATCATCTTTTTATTGTAACTTGAATATATTTATTTCCTGTGCCAGGAATTAAGGAAAAAAATACAAATAATTTCCTAAGACCACTAAAA... | CCTTTTCCAACGTTTTCTTTATACAACACCTGTATGACACAAGAAAGCATCCAGAAAAAACAAGAGCAGTCAAAACAGCCCTTTCATCTACCTTGTGGGGAACCTGGTATAAAACTACAGACGTCAGACAGAAAAGACAGATTCAACAAGTCAACCTCTCTGTTCAGGCACAGATCTGGGTGAGAACATGTTTTGTATTTCCTTAGTGAAATATCAGTGTATTTGATATTCATCATCTTTTTATTGTAACTTGAATATATTTATTTCCTGTGCCAGGAATTAAGGAAAAAAATACAAATAATTTCCTAAGACCACTAAAA... | pathogenic | 43,463 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 151501410, gene NEB. What disease(s) is it linked to if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | CCTTTTCCAACGTTTTCTTTATACAACACCTGTATGACACAAGAAAGCATCCAGAAAAAACAAGAGCAGTCAAAACAGCCCTTTCATCTACCTTGTGGGGAACCTGGTATAAAACTACAGACGTCAGACAGAAAAGACAGATTCAACAAGTCAACCTCTCTGTTCAGGCACAGATCTGGGTGAGAACATGTTTTGTATTTCCTTAGTGAAATATCAGTGTATTTGATATTCATCATCTTTTTATTGTAACTTGAATATATTTATTTCCTGTGCCAGGAATTAAGGAAAAAAATACAAATAATTTCCTAAGACCACTAAAA... | CCTTTTCCAACGTTTTCTTTATACAACACCTGTATGACACAAGAAAGCATCCAGAAAAAACAAGAGCAGTCAAAACAGCCCTTTCATCTACCTTGTGGGGAACCTGGTATAAAACTACAGACGTCAGACAGAAAAGACAGATTCAACAAGTCAACCTCTCTGTTCAGGCACAGATCTGGGTGAGAACATGTTTTGTATTTCCTTAGTGAAATATCAGTGTATTTGATATTCATCATCTTTTTATTGTAACTTGAATATATTTATTTCCTGTGCCAGGAATTAAGGAAAAAAATACAAATAATTTCCTAAGACCACTAAAA... | pathogenic | 43,464 |
Variant at chromosome position 151501444, chromosome 2, gene NEB: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'NEB-related_disorder', 'Nemaline_myopathy_2'] | TGACACAAGAAAGCATCCAGAAAAAACAAGAGCAGTCAAAACAGCCCTTTCATCTACCTTGTGGGGAACCTGGTATAAAACTACAGACGTCAGACAGAAAAGACAGATTCAACAAGTCAACCTCTCTGTTCAGGCACAGATCTGGGTGAGAACATGTTTTGTATTTCCTTAGTGAAATATCAGTGTATTTGATATTCATCATCTTTTTATTGTAACTTGAATATATTTATTTCCTGTGCCAGGAATTAAGGAAAAAAATACAAATAATTTCCTAAGACCACTAAAATACTCAGTGTACAATAGAAAAATTGCTTAAGTTA... | TGACACAAGAAAGCATCCAGAAAAAACAAGAGCAGTCAAAACAGCCCTTTCATCTACCTTGTGGGGAACCTGGTATAAAACTACAGACGTCAGACAGAAAAGACAGATTCAACAAGTCAACCTCTCTGTTCAGGCACAGATCTGGGTGAGAACATGTTTTGTATTTCCTTAGTGAAATATCAGTGTATTTGATATTCATCATCTTTTTATTGTAACTTGAATATATTTATTTCCTGTGCCAGGAATTAAGGAAAAAAATACAAATAATTTCCTAAGACCACTAAAATACTCAGTGTACAATAGAAAAATTGCTTAAGTTA... | pathogenic | 43,465 |
Variant in NEB, chromosome 2, position 151502821—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | ATTTTTAGCAGAGATGGAATTTCACCATGTTGGCTAGGCTGGTCTCGACCTCCTGGGCTCAAGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGAGGTGACAGGTGTGAGCCACCACGCCTGGCCCCAAATAAGATTTCTTTTGGTTTCAATATGGAGCAATTTTCTTTCTTGGTGCTATTGTTTATCTGAATAGGGTCTATGTTAAGATGATCCCTGTTCCTAAGGAAGAGCCACCATTTCTATATGTGGCTTCAAGTCCAGTATCTTTTCTTGCATCTCTAACCCAGAAACATCAGATAAAAAGAGTTCCAAGTAAA... | ATTTTTAGCAGAGATGGAATTTCACCATGTTGGCTAGGCTGGTCTCGACCTCCTGGGCTCAAGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGAGGTGACAGGTGTGAGCCACCACGCCTGGCCCCAAATAAGATTTCTTTTGGTTTCAATATGGAGCAATTTTCTTTCTTGGTGCTATTGTTTATCTGAATAGGGTCTATGTTAAGATGATCCCTGTTCCTAAGGAAGAGCCACCATTTCTATATGTGGCTTCAAGTCCAGTATCTTTTCTTGCATCTCTAACCCAGAAACATCAGATAAAAAGAGTTCCAAGTAAA... | pathogenic | 43,467 |
Assess the variant on chromosome 2, position 151502839, impacting NEB: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | ATTTCACCATGTTGGCTAGGCTGGTCTCGACCTCCTGGGCTCAAGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGAGGTGACAGGTGTGAGCCACCACGCCTGGCCCCAAATAAGATTTCTTTTGGTTTCAATATGGAGCAATTTTCTTTCTTGGTGCTATTGTTTATCTGAATAGGGTCTATGTTAAGATGATCCCTGTTCCTAAGGAAGAGCCACCATTTCTATATGTGGCTTCAAGTCCAGTATCTTTTCTTGCATCTCTAACCCAGAAACATCAGATAAAAAGAGTTCCAAGTAAATAAGAGCTTTAGTGTTTG... | ATTTCACCATGTTGGCTAGGCTGGTCTCGACCTCCTGGGCTCAAGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGAGGTGACAGGTGTGAGCCACCACGCCTGGCCCCAAATAAGATTTCTTTTGGTTTCAATATGGAGCAATTTTCTTTCTTGGTGCTATTGTTTATCTGAATAGGGTCTATGTTAAGATGATCCCTGTTCCTAAGGAAGAGCCACCATTTCTATATGTGGCTTCAAGTCCAGTATCTTTTCTTGCATCTCTAACCCAGAAACATCAGATAAAAAGAGTTCCAAGTAAATAAGAGCTTTAGTGTTTG... | pathogenic | 43,468 |
A mutation at chromosome position 151502869 on chromosome 2 in gene NEB: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | CCTCCTGGGCTCAAGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGAGGTGACAGGTGTGAGCCACCACGCCTGGCCCCAAATAAGATTTCTTTTGGTTTCAATATGGAGCAATTTTCTTTCTTGGTGCTATTGTTTATCTGAATAGGGTCTATGTTAAGATGATCCCTGTTCCTAAGGAAGAGCCACCATTTCTATATGTGGCTTCAAGTCCAGTATCTTTTCTTGCATCTCTAACCCAGAAACATCAGATAAAAAGAGTTCCAAGTAAATAAGAGCTTTAGTGTTTGGTTTTTCTTTTCTGGAAATCAATTAACTTC... | CCTCCTGGGCTCAAGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGAGGTGACAGGTGTGAGCCACCACGCCTGGCCCCAAATAAGATTTCTTTTGGTTTCAATATGGAGCAATTTTCTTTCTTGGTGCTATTGTTTATCTGAATAGGGTCTATGTTAAGATGATCCCTGTTCCTAAGGAAGAGCCACCATTTCTATATGTGGCTTCAAGTCCAGTATCTTTTCTTGCATCTCTAACCCAGAAACATCAGATAAAAAGAGTTCCAAGTAAATAAGAGCTTTAGTGTTTGGTTTTTCTTTTCTGGAAATCAATTAACTTC... | pathogenic | 43,470 |
Does the genetic variant at chromosome 2, position 151503327, impacting gene NEB, appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TAAAAAAAGATTTTGTTAAATTGATTATTATAAAGGGATGAACAGTGAGATGTTCTGTTTTGTAGAAATTATTATTTTTTAATATGGAGTTAAAGAGCTTTCTCCCAAATACCGAGCTAAAGTTTTCTTGATTGAGTTTGACTCGCTCCATCTCAGGAGTGACAGGTAGGGGAGTCCCCTTGCTCAAGTTCTCTTTGTACAATATCTGTGTGCACAAAACCAACAAACAAATCAACCTGGACCCATCATTTTTTAGGTAGACTTAACCTAAAAAAACAGCCTAAAAGAAGTATTTTTATTGTTGTTTTTATGATGAAGTA... | TAAAAAAAGATTTTGTTAAATTGATTATTATAAAGGGATGAACAGTGAGATGTTCTGTTTTGTAGAAATTATTATTTTTTAATATGGAGTTAAAGAGCTTTCTCCCAAATACCGAGCTAAAGTTTTCTTGATTGAGTTTGACTCGCTCCATCTCAGGAGTGACAGGTAGGGGAGTCCCCTTGCTCAAGTTCTCTTTGTACAATATCTGTGTGCACAAAACCAACAAACAAATCAACCTGGACCCATCATTTTTTAGGTAGACTTAACCTAAAAAAACAGCCTAAAAGAAGTATTTTTATTGTTGTTTTTATGATGAAGTA... | benign | 43,473 |
A genetic variant on chromosome 2, position 151503377, affects the gene NEB. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TGTTCTGTTTTGTAGAAATTATTATTTTTTAATATGGAGTTAAAGAGCTTTCTCCCAAATACCGAGCTAAAGTTTTCTTGATTGAGTTTGACTCGCTCCATCTCAGGAGTGACAGGTAGGGGAGTCCCCTTGCTCAAGTTCTCTTTGTACAATATCTGTGTGCACAAAACCAACAAACAAATCAACCTGGACCCATCATTTTTTAGGTAGACTTAACCTAAAAAAACAGCCTAAAAGAAGTATTTTTATTGTTGTTTTTATGATGAAGTACCTCAGTAACTTTTAAAAATAGAGTTAACTATAGATCCCCTTTGGACATT... | TGTTCTGTTTTGTAGAAATTATTATTTTTTAATATGGAGTTAAAGAGCTTTCTCCCAAATACCGAGCTAAAGTTTTCTTGATTGAGTTTGACTCGCTCCATCTCAGGAGTGACAGGTAGGGGAGTCCCCTTGCTCAAGTTCTCTTTGTACAATATCTGTGTGCACAAAACCAACAAACAAATCAACCTGGACCCATCATTTTTTAGGTAGACTTAACCTAAAAAAACAGCCTAAAAGAAGTATTTTTATTGTTGTTTTTATGATGAAGTACCTCAGTAACTTTTAAAAATAGAGTTAACTATAGATCCCCTTTGGACATT... | pathogenic | 43,475 |
A genetic variant at chromosome 2, position 151503388, affecting gene NEB—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Nemaline_myopathy'] | GTAGAAATTATTATTTTTTAATATGGAGTTAAAGAGCTTTCTCCCAAATACCGAGCTAAAGTTTTCTTGATTGAGTTTGACTCGCTCCATCTCAGGAGTGACAGGTAGGGGAGTCCCCTTGCTCAAGTTCTCTTTGTACAATATCTGTGTGCACAAAACCAACAAACAAATCAACCTGGACCCATCATTTTTTAGGTAGACTTAACCTAAAAAAACAGCCTAAAAGAAGTATTTTTATTGTTGTTTTTATGATGAAGTACCTCAGTAACTTTTAAAAATAGAGTTAACTATAGATCCCCTTTGGACATTTAGTCACACAC... | GTAGAAATTATTATTTTTTAATATGGAGTTAAAGAGCTTTCTCCCAAATACCGAGCTAAAGTTTTCTTGATTGAGTTTGACTCGCTCCATCTCAGGAGTGACAGGTAGGGGAGTCCCCTTGCTCAAGTTCTCTTTGTACAATATCTGTGTGCACAAAACCAACAAACAAATCAACCTGGACCCATCATTTTTTAGGTAGACTTAACCTAAAAAAACAGCCTAAAAGAAGTATTTTTATTGTTGTTTTTATGATGAAGTACCTCAGTAACTTTTAAAAATAGAGTTAACTATAGATCCCCTTTGGACATTTAGTCACACAC... | pathogenic | 43,476 |
Is the genetic change at chromosome 2, position 151503397, within gene NEB benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | ATTATTTTTTAATATGGAGTTAAAGAGCTTTCTCCCAAATACCGAGCTAAAGTTTTCTTGATTGAGTTTGACTCGCTCCATCTCAGGAGTGACAGGTAGGGGAGTCCCCTTGCTCAAGTTCTCTTTGTACAATATCTGTGTGCACAAAACCAACAAACAAATCAACCTGGACCCATCATTTTTTAGGTAGACTTAACCTAAAAAAACAGCCTAAAAGAAGTATTTTTATTGTTGTTTTTATGATGAAGTACCTCAGTAACTTTTAAAAATAGAGTTAACTATAGATCCCCTTTGGACATTTAGTCACACACAGGATGTCT... | ATTATTTTTTAATATGGAGTTAAAGAGCTTTCTCCCAAATACCGAGCTAAAGTTTTCTTGATTGAGTTTGACTCGCTCCATCTCAGGAGTGACAGGTAGGGGAGTCCCCTTGCTCAAGTTCTCTTTGTACAATATCTGTGTGCACAAAACCAACAAACAAATCAACCTGGACCCATCATTTTTTAGGTAGACTTAACCTAAAAAAACAGCCTAAAAGAAGTATTTTTATTGTTGTTTTTATGATGAAGTACCTCAGTAACTTTTAAAAATAGAGTTAACTATAGATCCCCTTTGGACATTTAGTCACACACAGGATGTCT... | pathogenic | 43,477 |
Gene mutation in NEB at chromosome 2, position 151505508—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | ATACCCAGAAAGGTAAAATGACCGTAAATCCTTTAGATAGCAGCCACATGTGGGCTATTTGGGGGAAACTCATAAAAACAATCTAGCTCTCAAATATAACATTCAAGGAACAGGGGGGAAAATTCCATGAATATTTATGTTGTCTTTTCCAAAATAGTAAAAATTTTTACTACTTTGAAAACTGGGCACTAAATTATGCATTTTCTGTAACCACTTAGTGCATGCCTAAAATGCATTAATAAATAAATTTACCAATGAGAAAAATCTAACCATTTTGTTGCATCTAGCTTTGGTGCCTCAAATATAGTAGGCCTGCAGTA... | ATACCCAGAAAGGTAAAATGACCGTAAATCCTTTAGATAGCAGCCACATGTGGGCTATTTGGGGGAAACTCATAAAAACAATCTAGCTCTCAAATATAACATTCAAGGAACAGGGGGGAAAATTCCATGAATATTTATGTTGTCTTTTCCAAAATAGTAAAAATTTTTACTACTTTGAAAACTGGGCACTAAATTATGCATTTTCTGTAACCACTTAGTGCATGCCTAAAATGCATTAATAAATAAATTTACCAATGAGAAAAATCTAACCATTTTGTTGCATCTAGCTTTGGTGCCTCAAATATAGTAGGCCTGCAGTA... | pathogenic | 43,480 |
Does the genetic variant at chromosome 2, position 151506183, impacting gene NEB, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | AGTTTTCAGCCTAAAGGACTGAATGAGTTCTTTTAAATGGATGGATTCCCTGGTGTATTAGTGCATGGCGTGGGGAGCAACGTACCCAGATTTTAATTCTTAAAATCAGTGACAAGCTAGGCGTGATAGCTTTGTTTTGCAAGGAAGCTTCTAGGAACCTTTGAACATCTACCTTCTTGGTAACAAAGTTGCATTTCTTTACTCTTCACCCAACAAAGCAGCAGAATTGATCTCGGACAACAGCACAAAGCAAAATTAAAGAAAACCAAGAAGTTGTAATGCAAAGTGACAAAGGAGCCTAGGCTAGCTTTCTCAACTCT... | AGTTTTCAGCCTAAAGGACTGAATGAGTTCTTTTAAATGGATGGATTCCCTGGTGTATTAGTGCATGGCGTGGGGAGCAACGTACCCAGATTTTAATTCTTAAAATCAGTGACAAGCTAGGCGTGATAGCTTTGTTTTGCAAGGAAGCTTCTAGGAACCTTTGAACATCTACCTTCTTGGTAACAAAGTTGCATTTCTTTACTCTTCACCCAACAAAGCAGCAGAATTGATCTCGGACAACAGCACAAAGCAAAATTAAAGAAAACCAAGAAGTTGTAATGCAAAGTGACAAAGGAGCCTAGGCTAGCTTTCTCAACTCT... | pathogenic | 43,482 |
Is the genetic variant on chromosome 2, position 151506965, gene NEB, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | CCACTGCATTTACTAGATGGAGAGAGCAAAGAATACAGGAGAAGAAACCTTGAAAGGGAGGGGAGAAGAGACTTCACATGTCTACCCAGGGTCTTTTTGGACACTGGGAATCCTATCATTCATATGATGTGTCATACATACACACACACATGTTTTATATATATACACAAAACCAAAGTATGTTATACTACTTATATGTTTATATGTATATGCTTTTAGTTAAATTACTTGAGATCATCCCAATAACCTTATTACTACCATCAAAACATTTTACTTTGGAAACGAATGGCATGATAATTAATTAAGAAGCCAAGTCCATG... | CCACTGCATTTACTAGATGGAGAGAGCAAAGAATACAGGAGAAGAAACCTTGAAAGGGAGGGGAGAAGAGACTTCACATGTCTACCCAGGGTCTTTTTGGACACTGGGAATCCTATCATTCATATGATGTGTCATACATACACACACACATGTTTTATATATATACACAAAACCAAAGTATGTTATACTACTTATATGTTTATATGTATATGCTTTTAGTTAAATTACTTGAGATCATCCCAATAACCTTATTACTACCATCAAAACATTTTACTTTGGAAACGAATGGCATGATAATTAATTAAGAAGCCAAGTCCATG... | pathogenic | 43,487 |
Is the genetic variant on chromosome 2, position 151506968, gene NEB, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | CTGCATTTACTAGATGGAGAGAGCAAAGAATACAGGAGAAGAAACCTTGAAAGGGAGGGGAGAAGAGACTTCACATGTCTACCCAGGGTCTTTTTGGACACTGGGAATCCTATCATTCATATGATGTGTCATACATACACACACACATGTTTTATATATATACACAAAACCAAAGTATGTTATACTACTTATATGTTTATATGTATATGCTTTTAGTTAAATTACTTGAGATCATCCCAATAACCTTATTACTACCATCAAAACATTTTACTTTGGAAACGAATGGCATGATAATTAATTAAGAAGCCAAGTCCATGAGC... | CTGCATTTACTAGATGGAGAGAGCAAAGAATACAGGAGAAGAAACCTTGAAAGGGAGGGGAGAAGAGACTTCACATGTCTACCCAGGGTCTTTTTGGACACTGGGAATCCTATCATTCATATGATGTGTCATACATACACACACACATGTTTTATATATATACACAAAACCAAAGTATGTTATACTACTTATATGTTTATATGTATATGCTTTTAGTTAAATTACTTGAGATCATCCCAATAACCTTATTACTACCATCAAAACATTTTACTTTGGAAACGAATGGCATGATAATTAATTAAGAAGCCAAGTCCATGAGC... | pathogenic | 43,488 |
Is the genetic mutation found on chromosome 2 at position 151508068, within the gene NEB, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | GCCACTGTGTGGTGGTGGTACACAGGCACCTATTTTAGCAATATAAGCTGTTTCTGGTGACAGAGGCTTTGAGTGCAACTCATAGGTCATTGTAAATTATCAAAGGGAGGCAGAAAATATTGCAAGTGCATTCACTGTGTCTTTACCGAGCTAATGTGGTCCTGTGTTTGTTTCACTCTCATCATCTCAGGTGTCTTTCCGATAGCCGTTCCTGGTGAGACATCCTCTTTATATAAAACCTGGGCATTCAGAATCAGGACAGTGTTAACACAGAAGAAAAGAAAACCCAGCAGTTCCTGGAGAAAGACTAGGACACATGG... | GCCACTGTGTGGTGGTGGTACACAGGCACCTATTTTAGCAATATAAGCTGTTTCTGGTGACAGAGGCTTTGAGTGCAACTCATAGGTCATTGTAAATTATCAAAGGGAGGCAGAAAATATTGCAAGTGCATTCACTGTGTCTTTACCGAGCTAATGTGGTCCTGTGTTTGTTTCACTCTCATCATCTCAGGTGTCTTTCCGATAGCCGTTCCTGGTGAGACATCCTCTTTATATAAAACCTGGGCATTCAGAATCAGGACAGTGTTAACACAGAAGAAAAGAAAACCCAGCAGTTCCTGGAGAAAGACTAGGACACATGG... | pathogenic | 43,492 |
Located at chromosome 2 position 151508077, the variant affecting gene NEB—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Nemaline_myopathy_2'] | TGGTGGTGGTACACAGGCACCTATTTTAGCAATATAAGCTGTTTCTGGTGACAGAGGCTTTGAGTGCAACTCATAGGTCATTGTAAATTATCAAAGGGAGGCAGAAAATATTGCAAGTGCATTCACTGTGTCTTTACCGAGCTAATGTGGTCCTGTGTTTGTTTCACTCTCATCATCTCAGGTGTCTTTCCGATAGCCGTTCCTGGTGAGACATCCTCTTTATATAAAACCTGGGCATTCAGAATCAGGACAGTGTTAACACAGAAGAAAAGAAAACCCAGCAGTTCCTGGAGAAAGACTAGGACACATGGCTTTTGTGA... | TGGTGGTGGTACACAGGCACCTATTTTAGCAATATAAGCTGTTTCTGGTGACAGAGGCTTTGAGTGCAACTCATAGGTCATTGTAAATTATCAAAGGGAGGCAGAAAATATTGCAAGTGCATTCACTGTGTCTTTACCGAGCTAATGTGGTCCTGTGTTTGTTTCACTCTCATCATCTCAGGTGTCTTTCCGATAGCCGTTCCTGGTGAGACATCCTCTTTATATAAAACCTGGGCATTCAGAATCAGGACAGTGTTAACACAGAAGAAAAGAAAACCCAGCAGTTCCTGGAGAAAGACTAGGACACATGGCTTTTGTGA... | pathogenic | 43,494 |
Is chromosome 2, position 151508104, gene NEB variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | AGCAATATAAGCTGTTTCTGGTGACAGAGGCTTTGAGTGCAACTCATAGGTCATTGTAAATTATCAAAGGGAGGCAGAAAATATTGCAAGTGCATTCACTGTGTCTTTACCGAGCTAATGTGGTCCTGTGTTTGTTTCACTCTCATCATCTCAGGTGTCTTTCCGATAGCCGTTCCTGGTGAGACATCCTCTTTATATAAAACCTGGGCATTCAGAATCAGGACAGTGTTAACACAGAAGAAAAGAAAACCCAGCAGTTCCTGGAGAAAGACTAGGACACATGGCTTTTGTGAAAACAAGACACTAGACGATGTTCCCAG... | AGCAATATAAGCTGTTTCTGGTGACAGAGGCTTTGAGTGCAACTCATAGGTCATTGTAAATTATCAAAGGGAGGCAGAAAATATTGCAAGTGCATTCACTGTGTCTTTACCGAGCTAATGTGGTCCTGTGTTTGTTTCACTCTCATCATCTCAGGTGTCTTTCCGATAGCCGTTCCTGGTGAGACATCCTCTTTATATAAAACCTGGGCATTCAGAATCAGGACAGTGTTAACACAGAAGAAAAGAAAACCCAGCAGTTCCTGGAGAAAGACTAGGACACATGGCTTTTGTGAAAACAAGACACTAGACGATGTTCCCAG... | pathogenic | 43,495 |
Does the variant on chromosome 2 at location 151513656 affecting gene NEB have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Nemaline_myopathy_2'] | TGATCAGAAGACAAGCACAAATTCTAATCTGGCACCACTCAAACAAATTGCAGACTCCTGACCATCACTGACAATCGTTCATACAAGTGAAGGCCTATCCCAGGGTGTGAAGGATGGCCTACTTTTCTTCATCTCTCTATTTGTAGGAAGATGATGGAGAGTTATTCATCATGAGGGGAGTCAGGGGTTAGACTGTGTGGTCTCAATCTCAGTCTTGTTTGAGATTGGTAATCCAAATGTGGGCTACTTTGTTTCTTCCAGATCTGCGCACACATTTTTAAAGCCACATCATAAGAGATTTTACATGTTAAAATATTGAT... | TGATCAGAAGACAAGCACAAATTCTAATCTGGCACCACTCAAACAAATTGCAGACTCCTGACCATCACTGACAATCGTTCATACAAGTGAAGGCCTATCCCAGGGTGTGAAGGATGGCCTACTTTTCTTCATCTCTCTATTTGTAGGAAGATGATGGAGAGTTATTCATCATGAGGGGAGTCAGGGGTTAGACTGTGTGGTCTCAATCTCAGTCTTGTTTGAGATTGGTAATCCAAATGTGGGCTACTTTGTTTCTTCCAGATCTGCGCACACATTTTTAAAGCCACATCATAAGAGATTTTACATGTTAAAATATTGAT... | pathogenic | 43,504 |
Does the genetic variant at chromosome 2, position 151513677, impacting gene NEB, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6'] | TTCTAATCTGGCACCACTCAAACAAATTGCAGACTCCTGACCATCACTGACAATCGTTCATACAAGTGAAGGCCTATCCCAGGGTGTGAAGGATGGCCTACTTTTCTTCATCTCTCTATTTGTAGGAAGATGATGGAGAGTTATTCATCATGAGGGGAGTCAGGGGTTAGACTGTGTGGTCTCAATCTCAGTCTTGTTTGAGATTGGTAATCCAAATGTGGGCTACTTTGTTTCTTCCAGATCTGCGCACACATTTTTAAAGCCACATCATAAGAGATTTTACATGTTAAAATATTGATTCATTAATTACAAGTTGTACC... | TTCTAATCTGGCACCACTCAAACAAATTGCAGACTCCTGACCATCACTGACAATCGTTCATACAAGTGAAGGCCTATCCCAGGGTGTGAAGGATGGCCTACTTTTCTTCATCTCTCTATTTGTAGGAAGATGATGGAGAGTTATTCATCATGAGGGGAGTCAGGGGTTAGACTGTGTGGTCTCAATCTCAGTCTTGTTTGAGATTGGTAATCCAAATGTGGGCTACTTTGTTTCTTCCAGATCTGCGCACACATTTTTAAAGCCACATCATAAGAGATTTTACATGTTAAAATATTGATTCATTAATTACAAGTTGTACC... | pathogenic | 43,505 |
Is the genetic variant on chromosome 2, position 151516457, gene NEB, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | AGATCTTTCCTGTACTCTTTCTATATCATGAAAGAAAAGCAACAACATTGACAAGAAAGCCCAGATTGATTCTCTCAGGCAAAGAAGAAAATAAAAAACAATTCCAATTTTTAAAGGGTTCACAGTTTAGTAAGTAAAAATATGAATACAGGCAGGGTATAAGCATGATCAGTTAACATTAAATATCAAATGAAAGCTTGAAGTTAATAGAATGCTAAGGTAATATTCAAATAAAAAATTAGAAGAATTAACATGGGTAATAGATTAGGTGGTAGTACCAAGCACATGAGAACCCAATTTGAAACCCACAGTTAGGTGGT... | AGATCTTTCCTGTACTCTTTCTATATCATGAAAGAAAAGCAACAACATTGACAAGAAAGCCCAGATTGATTCTCTCAGGCAAAGAAGAAAATAAAAAACAATTCCAATTTTTAAAGGGTTCACAGTTTAGTAAGTAAAAATATGAATACAGGCAGGGTATAAGCATGATCAGTTAACATTAAATATCAAATGAAAGCTTGAAGTTAATAGAATGCTAAGGTAATATTCAAATAAAAAATTAGAAGAATTAACATGGGTAATAGATTAGGTGGTAGTACCAAGCACATGAGAACCCAATTTGAAACCCACAGTTAGGTGGT... | pathogenic | 43,514 |
Regarding the variant found on chromosome 2 at position 151518324 in gene NEB: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | AGCATTTTTAAAAAATAACTGAACCATAGGATTTCTGAGATGGAGAAGATTTTAGTGATCACATGATAAAAAGTTTCATCAGCTACCACTTTTGGATGACAGGAAACTGGCCATGTCATGGGCAGAGCTTGTGTTCAGTAGTGTGATGGATCATTGTTGTGTGGTGTGGTTTTTTTGACTTACCCCACTCTGCATCTGCTGAGACTCTTTGGCAGTGATGTACGTTGGTGTTTCAAAGTCCAGCATGGGTTTTCCTCGTTCCTTTTCATACTTTTCTTTGTATTTCACCTGGTGATAGAAAGCCATGTTAGATATCTCTC... | AGCATTTTTAAAAAATAACTGAACCATAGGATTTCTGAGATGGAGAAGATTTTAGTGATCACATGATAAAAAGTTTCATCAGCTACCACTTTTGGATGACAGGAAACTGGCCATGTCATGGGCAGAGCTTGTGTTCAGTAGTGTGATGGATCATTGTTGTGTGGTGTGGTTTTTTTGACTTACCCCACTCTGCATCTGCTGAGACTCTTTGGCAGTGATGTACGTTGGTGTTTCAAAGTCCAGCATGGGTTTTCCTCGTTCCTTTTCATACTTTTCTTTGTATTTCACCTGGTGATAGAAAGCCATGTTAGATATCTCTC... | pathogenic | 43,520 |
Chromosome 2, position 151519018, gene NEB: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | GTTTTTCTTTCACAAGAACTTTTATCAGAGACCTGGGGTCTAGATTGAATGGATAACACATGGAGCTTTATTTATAAGTAAACAACTCTATGTGGGTCCTGACTGGCCATATATTTAATGCAGCCAATAAATTGGTATAAAAATGAAAACTAGTTTACATATTGACTGACTTGTTAAAAAACCTGACAGTCTCAAAAGATCCTCAAGCCTGTTGTATAAATAAAATTTTCTCATCCTCATAACATGTGGTTAAGAATCAGGGGAGCCACATAAATGTATGTGACAGAGAACTTCTGGAAAAACAGGCGAAGACCCTCATG... | GTTTTTCTTTCACAAGAACTTTTATCAGAGACCTGGGGTCTAGATTGAATGGATAACACATGGAGCTTTATTTATAAGTAAACAACTCTATGTGGGTCCTGACTGGCCATATATTTAATGCAGCCAATAAATTGGTATAAAAATGAAAACTAGTTTACATATTGACTGACTTGTTAAAAAACCTGACAGTCTCAAAAGATCCTCAAGCCTGTTGTATAAATAAAATTTTCTCATCCTCATAACATGTGGTTAAGAATCAGGGGAGCCACATAAATGTATGTGACAGAGAACTTCTGGAAAAACAGGCGAAGACCCTCATG... | pathogenic | 43,522 |
Is the variant located on chromosome 2 at position 151519058, gene NEB, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TAGATTGAATGGATAACACATGGAGCTTTATTTATAAGTAAACAACTCTATGTGGGTCCTGACTGGCCATATATTTAATGCAGCCAATAAATTGGTATAAAAATGAAAACTAGTTTACATATTGACTGACTTGTTAAAAAACCTGACAGTCTCAAAAGATCCTCAAGCCTGTTGTATAAATAAAATTTTCTCATCCTCATAACATGTGGTTAAGAATCAGGGGAGCCACATAAATGTATGTGACAGAGAACTTCTGGAAAAACAGGCGAAGACCCTCATGCACGCAGCACCTTGATGGCACTGCTCAATCTCCGAGCTCT... | TAGATTGAATGGATAACACATGGAGCTTTATTTATAAGTAAACAACTCTATGTGGGTCCTGACTGGCCATATATTTAATGCAGCCAATAAATTGGTATAAAAATGAAAACTAGTTTACATATTGACTGACTTGTTAAAAAACCTGACAGTCTCAAAAGATCCTCAAGCCTGTTGTATAAATAAAATTTTCTCATCCTCATAACATGTGGTTAAGAATCAGGGGAGCCACATAAATGTATGTGACAGAGAACTTCTGGAAAAACAGGCGAAGACCCTCATGCACGCAGCACCTTGATGGCACTGCTCAATCTCCGAGCTCT... | pathogenic | 43,523 |
Chromosome 2, position 151519736, gene NEB: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Nemaline_myopathy_2'] | TTATTTTACTGAAATCTGTAGGCACTTGTAACACAAGAGTATTTGTGTATCTTGATACCTCTAAGCATAGAAAAGGTACAGTAAAAATATGGTATTAAAGGTTTTAAAATGGTACACCTGCATAGGGTAGCTCCATTATAATCTTATGGGACCACTGTCATACAGGTGGTCTGCTGTTGACCAAAAACATCATGCGGTATATGACTGTATCTTAAAAATTTAGTAATTTTGTAAATTCCCAGAACTGCTTTCAGTAGTAGACCTGATCGTATCACTTCTCTGTTTGAAATCTTCCTGACTCCCTATAATCTACTGTAGTG... | TTATTTTACTGAAATCTGTAGGCACTTGTAACACAAGAGTATTTGTGTATCTTGATACCTCTAAGCATAGAAAAGGTACAGTAAAAATATGGTATTAAAGGTTTTAAAATGGTACACCTGCATAGGGTAGCTCCATTATAATCTTATGGGACCACTGTCATACAGGTGGTCTGCTGTTGACCAAAAACATCATGCGGTATATGACTGTATCTTAAAAATTTAGTAATTTTGTAAATTCCCAGAACTGCTTTCAGTAGTAGACCTGATCGTATCACTTCTCTGTTTGAAATCTTCCTGACTCCCTATAATCTACTGTAGTG... | pathogenic | 43,526 |
A genetic variant on chromosome 2, position 151525159, affects the gene NEB. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | AAAAACATTAACTTTTTGCATTAATAAGTTCTTGTTACATCTCATTACTCTTAGAGATTCCACTGTTTTTTTGTTGGTGGTGGTGATCCCATATCTTAGTTTCAAATACTTATACAATTCCATTAATTTATAATAAAATATGTTACATAGGAATTTTAAGTTTAAAAACTTTTAAAAAATAATATTTGCTTTTCATCAGTCATCTGACCCTCTTGTGTTTTCATAATTCTAACTTGTTCTGTCACTTGACATTACTGCATTATATCTTCCAAAAGATTGGAATCCCATGTTTGCTATTGCTGAAAGTCAGTCACTCACGA... | AAAAACATTAACTTTTTGCATTAATAAGTTCTTGTTACATCTCATTACTCTTAGAGATTCCACTGTTTTTTTGTTGGTGGTGGTGATCCCATATCTTAGTTTCAAATACTTATACAATTCCATTAATTTATAATAAAATATGTTACATAGGAATTTTAAGTTTAAAAACTTTTAAAAAATAATATTTGCTTTTCATCAGTCATCTGACCCTCTTGTGTTTTCATAATTCTAACTTGTTCTGTCACTTGACATTACTGCATTATATCTTCCAAAAGATTGGAATCCCATGTTTGCTATTGCTGAAAGTCAGTCACTCACGA... | pathogenic | 43,534 |
The chromosome 2, position 151525214 genetic variant in gene NEB: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | GATTCCACTGTTTTTTTGTTGGTGGTGGTGATCCCATATCTTAGTTTCAAATACTTATACAATTCCATTAATTTATAATAAAATATGTTACATAGGAATTTTAAGTTTAAAAACTTTTAAAAAATAATATTTGCTTTTCATCAGTCATCTGACCCTCTTGTGTTTTCATAATTCTAACTTGTTCTGTCACTTGACATTACTGCATTATATCTTCCAAAAGATTGGAATCCCATGTTTGCTATTGCTGAAAGTCAGTCACTCACGACAACCAAATGTATATCCCAAACCTATTTCTTCAAACAGATACCTGAGAGGACAAG... | GATTCCACTGTTTTTTTGTTGGTGGTGGTGATCCCATATCTTAGTTTCAAATACTTATACAATTCCATTAATTTATAATAAAATATGTTACATAGGAATTTTAAGTTTAAAAACTTTTAAAAAATAATATTTGCTTTTCATCAGTCATCTGACCCTCTTGTGTTTTCATAATTCTAACTTGTTCTGTCACTTGACATTACTGCATTATATCTTCCAAAAGATTGGAATCCCATGTTTGCTATTGCTGAAAGTCAGTCACTCACGACAACCAAATGTATATCCCAAACCTATTTCTTCAAACAGATACCTGAGAGGACAAG... | pathogenic | 43,536 |
Does the variant impacting NEB on chromosome 2, position 151525215, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | ATTCCACTGTTTTTTTGTTGGTGGTGGTGATCCCATATCTTAGTTTCAAATACTTATACAATTCCATTAATTTATAATAAAATATGTTACATAGGAATTTTAAGTTTAAAAACTTTTAAAAAATAATATTTGCTTTTCATCAGTCATCTGACCCTCTTGTGTTTTCATAATTCTAACTTGTTCTGTCACTTGACATTACTGCATTATATCTTCCAAAAGATTGGAATCCCATGTTTGCTATTGCTGAAAGTCAGTCACTCACGACAACCAAATGTATATCCCAAACCTATTTCTTCAAACAGATACCTGAGAGGACAAGG... | ATTCCACTGTTTTTTTGTTGGTGGTGGTGATCCCATATCTTAGTTTCAAATACTTATACAATTCCATTAATTTATAATAAAATATGTTACATAGGAATTTTAAGTTTAAAAACTTTTAAAAAATAATATTTGCTTTTCATCAGTCATCTGACCCTCTTGTGTTTTCATAATTCTAACTTGTTCTGTCACTTGACATTACTGCATTATATCTTCCAAAAGATTGGAATCCCATGTTTGCTATTGCTGAAAGTCAGTCACTCACGACAACCAAATGTATATCCCAAACCTATTTCTTCAAACAGATACCTGAGAGGACAAGG... | pathogenic | 43,537 |
Considering the genetic mutation at chromosome 2, position 151525980, impacting NEB: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | GAATTTCATTGCTCTTCATGTTAAATCTATCCCAGGTGACTCAAGTATGAATCAGACCCCGAGGATGAAACTCTTAAGGCCTGGGGAGAGGTTCCAGTAGGATCTCATGAACTGATGTTTTTGTCACATAAAGATAGTTAAGCACACAGACACCCAGACAAATGCCCATAAATGGTAAAGTGGAGAACAAGAAAGGTCTAGACAGCTTAGAGGGAAACGAGAAAAGGCCCTCAGTGCACTTTTTATAACTCTTGGAAGCTTTGCAGTACTATTACAGACCCAGCATCCCTTTGCATTTTCAATCTGGAAATCACTTCTTC... | GAATTTCATTGCTCTTCATGTTAAATCTATCCCAGGTGACTCAAGTATGAATCAGACCCCGAGGATGAAACTCTTAAGGCCTGGGGAGAGGTTCCAGTAGGATCTCATGAACTGATGTTTTTGTCACATAAAGATAGTTAAGCACACAGACACCCAGACAAATGCCCATAAATGGTAAAGTGGAGAACAAGAAAGGTCTAGACAGCTTAGAGGGAAACGAGAAAAGGCCCTCAGTGCACTTTTTATAACTCTTGGAAGCTTTGCAGTACTATTACAGACCCAGCATCCCTTTGCATTTTCAATCTGGAAATCACTTCTTC... | pathogenic | 43,541 |
Is chromosome 2, position 151527598, gene NEB variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CTCATATAATACCAAGGTTACTACAGCATTATTGATAAGGATAGAGCAGGCAGAGATTACTGAGGCCCAAAGAGGTAGTTTTACCTTTCTAAAATTGGGTAGCAGTTTAATAATAGGAGAGGCCACTCCTAATCAACAATGTTTCCTTCTGTTATTAATAGGTTAGTAATATCTGATATGGCTAGATTACATGTCCTGTAGCAAAACCCACATTTGCCATAATTGCCAGAATTGGAAAGCCAATAAATACTGGGTCATTTTAAAAGTCAGAGTTTAAGATTCACATGTAGATATTGATGGTAAGAGTGAAGCTACATAAA... | CTCATATAATACCAAGGTTACTACAGCATTATTGATAAGGATAGAGCAGGCAGAGATTACTGAGGCCCAAAGAGGTAGTTTTACCTTTCTAAAATTGGGTAGCAGTTTAATAATAGGAGAGGCCACTCCTAATCAACAATGTTTCCTTCTGTTATTAATAGGTTAGTAATATCTGATATGGCTAGATTACATGTCCTGTAGCAAAACCCACATTTGCCATAATTGCCAGAATTGGAAAGCCAATAAATACTGGGTCATTTTAAAAGTCAGAGTTTAAGATTCACATGTAGATATTGATGGTAAGAGTGAAGCTACATAAA... | benign | 43,555 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 151529326, gene NEB. What disease(s) is it linked to if pathogenic? | benign | AGGCCCAGCCAAAGGAGAATAGGCTCCATGGGCAGGTTTGGGTTCTGAGCTCGCCTATCGCTCCCCCAACCATCCTCCTCTCCTTCTCGGATCTCAAACGAGCAAGGGTTAACACTCATGATAGTGGTTATTATAAATAATTATTCATTGTATTTCTCAGGTGCAGTATGCAGTTACAATCGTCTGTGTCTCTCCTGTCTTACATCGCTTTGCTGCAGGGATGACTTGGCAGCCTGGAGGAAGTCCGGTCGGTCAGGAGTCCACTTCCAGTGGGCTTTGTTGGCTTCGTACTGTTTCTTATAGTCCAGCTGTTTTTAACA... | AGGCCCAGCCAAAGGAGAATAGGCTCCATGGGCAGGTTTGGGTTCTGAGCTCGCCTATCGCTCCCCCAACCATCCTCCTCTCCTTCTCGGATCTCAAACGAGCAAGGGTTAACACTCATGATAGTGGTTATTATAAATAATTATTCATTGTATTTCTCAGGTGCAGTATGCAGTTACAATCGTCTGTGTCTCTCCTGTCTTACATCGCTTTGCTGCAGGGATGACTTGGCAGCCTGGAGGAAGTCCGGTCGGTCAGGAGTCCACTTCCAGTGGGCTTTGTTGGCTTCGTACTGTTTCTTATAGTCCAGCTGTTTTTAACA... | benign | 43,557 |
Is the genetic mutation found on chromosome 2 at position 151531809, within the gene NEB, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | TCAGGTGATCCCGCCCACCTCAGCCTTTCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTGCCATATAATTTTTGTTTCTGTGCTTGTGCTGAAAGGACCAGTTGGAACCCTATTCATTCAGGTTTTCCTTTCCCCAAATCAGCAAATCTTGAGTTCAGAACATCTTGATAACTGCTGATGGAAGAGAAGCCTTTCCCTACCAGCTCACCCAGACAGAATTAGTCTTGCTCTCCTTCTGTGCTCCGGCAGTTATAGCTATTATCATATCGTGTTATAATTTTTTTTAATCTGCCTATTCTTTCCATTAAG... | TCAGGTGATCCCGCCCACCTCAGCCTTTCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTGCCATATAATTTTTGTTTCTGTGCTTGTGCTGAAAGGACCAGTTGGAACCCTATTCATTCAGGTTTTCCTTTCCCCAAATCAGCAAATCTTGAGTTCAGAACATCTTGATAACTGCTGATGGAAGAGAAGCCTTTCCCTACCAGCTCACCCAGACAGAATTAGTCTTGCTCTCCTTCTGTGCTCCGGCAGTTATAGCTATTATCATATCGTGTTATAATTTTTTTTAATCTGCCTATTCTTTCCATTAAG... | pathogenic | 43,564 |
Determine if the mutation at chromosome 2, position 151531901 in gene NEB is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GCTTGTGCTGAAAGGACCAGTTGGAACCCTATTCATTCAGGTTTTCCTTTCCCCAAATCAGCAAATCTTGAGTTCAGAACATCTTGATAACTGCTGATGGAAGAGAAGCCTTTCCCTACCAGCTCACCCAGACAGAATTAGTCTTGCTCTCCTTCTGTGCTCCGGCAGTTATAGCTATTATCATATCGTGTTATAATTTTTTTTAATCTGCCTATTCTTTCCATTAAGGACCCCTTAAGGGCAAAAACTGTTTATCATCCATCATCTCATTCCTAGTGTCAGGCACATAGACAATATTTGATGAATGAATGAACTGATGA... | GCTTGTGCTGAAAGGACCAGTTGGAACCCTATTCATTCAGGTTTTCCTTTCCCCAAATCAGCAAATCTTGAGTTCAGAACATCTTGATAACTGCTGATGGAAGAGAAGCCTTTCCCTACCAGCTCACCCAGACAGAATTAGTCTTGCTCTCCTTCTGTGCTCCGGCAGTTATAGCTATTATCATATCGTGTTATAATTTTTTTTAATCTGCCTATTCTTTCCATTAAGGACCCCTTAAGGGCAAAAACTGTTTATCATCCATCATCTCATTCCTAGTGTCAGGCACATAGACAATATTTGATGAATGAATGAACTGATGA... | benign | 43,566 |
The mutation in gene NEB at chromosome 2, position 151533540—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TTTTTAGTAGAGATGGGGTTTTGCCATATTGGCCAGGCTGGTCTCAAACTCGTGGCCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGAATTACAGGCATAAGCCACCACGCCCGGCCACAACAATTCTTTATTGGGGAGGAGAATCCTGTGCATAACAGGACATCTCGCACCCCTGCCTCCCTCCCACTAAATGGCAGTAGTCTCCCAGACTTTGTGACAATTTAAAATGCCCCTCCATGTTTGCAGATGCCCCCTGAGTTTGAGAAGGTATTCAGTGTTTCTTGCACTTACATCGCTGATTTGTTTGTTGA... | TTTTTAGTAGAGATGGGGTTTTGCCATATTGGCCAGGCTGGTCTCAAACTCGTGGCCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGGAATTACAGGCATAAGCCACCACGCCCGGCCACAACAATTCTTTATTGGGGAGGAGAATCCTGTGCATAACAGGACATCTCGCACCCCTGCCTCCCTCCCACTAAATGGCAGTAGTCTCCCAGACTTTGTGACAATTTAAAATGCCCCTCCATGTTTGCAGATGCCCCCTGAGTTTGAGAAGGTATTCAGTGTTTCTTGCACTTACATCGCTGATTTGTTTGTTGA... | pathogenic | 43,568 |
A mutation at chromosome position 151537210 on chromosome 2 in gene NEB (nebulin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | GAAAAAATTTGGGTGCAGATGGATACTTCTGTGCACCAATATATGTGGGAGTAACAATGGCAATATCTTTGAAGCATGAATCACAACTATTCCTTTAGCGTAGCTCTTCTAACAACTGACATTTTGGTGCCTTAGTAGAGGATACTAAATTAACCTTGAACTTCTGTGTCTTCCAAATCTACACAATATAGATTGTGTAATATATAAGGGAGTTCCGCTGACAGTCAAGAAAATCCTTTACCTGCCTGGTATTGTCACCCGCAGGGCTGTGCTGCCCTGTGTTTGTGCAGAGGTGCTGATGTTTGCGGGGCTCTCCCACC... | GAAAAAATTTGGGTGCAGATGGATACTTCTGTGCACCAATATATGTGGGAGTAACAATGGCAATATCTTTGAAGCATGAATCACAACTATTCCTTTAGCGTAGCTCTTCTAACAACTGACATTTTGGTGCCTTAGTAGAGGATACTAAATTAACCTTGAACTTCTGTGTCTTCCAAATCTACACAATATAGATTGTGTAATATATAAGGGAGTTCCGCTGACAGTCAAGAAAATCCTTTACCTGCCTGGTATTGTCACCCGCAGGGCTGTGCTGCCCTGTGTTTGTGCAGAGGTGCTGATGTTTGCGGGGCTCTCCCACC... | pathogenic | 43,578 |
Variant in gene NEB (nebulin), located at chromosome 2 position 151537235: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Nemaline_myopathy_2'] | CTTCTGTGCACCAATATATGTGGGAGTAACAATGGCAATATCTTTGAAGCATGAATCACAACTATTCCTTTAGCGTAGCTCTTCTAACAACTGACATTTTGGTGCCTTAGTAGAGGATACTAAATTAACCTTGAACTTCTGTGTCTTCCAAATCTACACAATATAGATTGTGTAATATATAAGGGAGTTCCGCTGACAGTCAAGAAAATCCTTTACCTGCCTGGTATTGTCACCCGCAGGGCTGTGCTGCCCTGTGTTTGTGCAGAGGTGCTGATGTTTGCGGGGCTCTCCCACCACTGAACGGTCCCTTCACTTGTTCT... | CTTCTGTGCACCAATATATGTGGGAGTAACAATGGCAATATCTTTGAAGCATGAATCACAACTATTCCTTTAGCGTAGCTCTTCTAACAACTGACATTTTGGTGCCTTAGTAGAGGATACTAAATTAACCTTGAACTTCTGTGTCTTCCAAATCTACACAATATAGATTGTGTAATATATAAGGGAGTTCCGCTGACAGTCAAGAAAATCCTTTACCTGCCTGGTATTGTCACCCGCAGGGCTGTGCTGCCCTGTGTTTGTGCAGAGGTGCTGATGTTTGCGGGGCTCTCCCACCACTGAACGGTCCCTTCACTTGTTCT... | pathogenic | 43,579 |
Evaluate this variant at chromosome 2, position 151537880, gene NEB (nebulin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | TATGATTATCTTAAGAATGAGACATGCTGTTTATCATATGATATAATTGTGATAATTAATTCATAGAACTAACACATATTCGTTTGTTTGTTTTGAGACAGGGTTTCACTCTGTTGCCCAGGCTGGACTGCAAGGCACAGTCATAGCTCACTGCAACCTCCGCCTCCCAGGCTCCATCGATCTTCCCACCTCAGCCTCCCAAGTAGGTGGGACTACAGGTTGTACACCACCATGCCTGGCTAATTTACGTATATTTTGTAGAGATGGGGTTTTGTCATATTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAGGCTATCCG... | TATGATTATCTTAAGAATGAGACATGCTGTTTATCATATGATATAATTGTGATAATTAATTCATAGAACTAACACATATTCGTTTGTTTGTTTTGAGACAGGGTTTCACTCTGTTGCCCAGGCTGGACTGCAAGGCACAGTCATAGCTCACTGCAACCTCCGCCTCCCAGGCTCCATCGATCTTCCCACCTCAGCCTCCCAAGTAGGTGGGACTACAGGTTGTACACCACCATGCCTGGCTAATTTACGTATATTTTGTAGAGATGGGGTTTTGTCATATTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAGGCTATCCG... | pathogenic | 43,580 |
The genetic variant at chromosome 2, position 151538160, affecting gene NEB (nebulin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | TGCCCAGGCTGGTCTCAAACTCCTGGGCTCAGGCTATCCGCCTGCCTTGGCCTCCCAAGTGCTGGGATTACATGTGTGAGCCACAGAACCCAGCCAAGCTAACACATATTTACTGATTGTTTATTCTGCCTCCAAGACAGTAAAGGGTAGAACTGCCTAGATGTCTTGAAAACTAGCCCAAAAGTGGACACGACGAAAACACTTCCATTGAATGGATGCCAAATAGATTTATTTTCCATATTGGGCAAAAATTTAAATCAATGTCTAGTTTATTTCTATATATTATAATTATTATTTAACTTTGAAAGTATTTTCATGTG... | TGCCCAGGCTGGTCTCAAACTCCTGGGCTCAGGCTATCCGCCTGCCTTGGCCTCCCAAGTGCTGGGATTACATGTGTGAGCCACAGAACCCAGCCAAGCTAACACATATTTACTGATTGTTTATTCTGCCTCCAAGACAGTAAAGGGTAGAACTGCCTAGATGTCTTGAAAACTAGCCCAAAAGTGGACACGACGAAAACACTTCCATTGAATGGATGCCAAATAGATTTATTTTCCATATTGGGCAAAAATTTAAATCAATGTCTAGTTTATTTCTATATATTATAATTATTATTTAACTTTGAAAGTATTTTCATGTG... | pathogenic | 43,586 |
Determine if the mutation at chromosome 2, position 151540390 in gene NEB (nebulin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Nemaline_myopathy_2'] | CCATGAATACATTTAGGAAAAATTTAAAAGCTTATTTCAGACCCTAGAAGAGAAAAAGAACACTAGGGAAAACTAATGAAATCCAAAGCAACTATGGAGTTTAACCGATCATAATGTATCAATCTTGGTTCACTGATCATGGCAAATCTACGATGGTGATACAGGTGTTAGCAACAGGAGGATATGGGTGTTCCCCTGGGTGTGGGGCATGTGATAACTCTGTACAATTTCGGTAAATCTAAGACTACTTAAAATAGAAAGTTTATTTAAATATAAAACATAAACCAAAAGTTCATTTGAGAGAAAAAAAAAACCCAAAC... | CCATGAATACATTTAGGAAAAATTTAAAAGCTTATTTCAGACCCTAGAAGAGAAAAAGAACACTAGGGAAAACTAATGAAATCCAAAGCAACTATGGAGTTTAACCGATCATAATGTATCAATCTTGGTTCACTGATCATGGCAAATCTACGATGGTGATACAGGTGTTAGCAACAGGAGGATATGGGTGTTCCCCTGGGTGTGGGGCATGTGATAACTCTGTACAATTTCGGTAAATCTAAGACTACTTAAAATAGAAAGTTTATTTAAATATAAAACATAAACCAAAAGTTCATTTGAGAGAAAAAAAAAACCCAAAC... | pathogenic | 43,591 |
Does the variant impacting NEB (nebulin) on chromosome 2, position 151546001, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TTGGCCATCACACTTTTTACTAACTCAATGTTTTCCAAACTTTCCTGATATTAACCCTCCCCCGCTCTCCATGGTTTTTATTAAAAACAGATTCGTAGGCTGTCTCCCAACCCTTCTAAATTCAGGGGAGTGGCTTGGATCAGCATTTTATCAAGCCTGGGTCATTCTTATGGAGAGGCAAATGTGGTGCAAACTGCTCCACTGAAAAATATCCATTCTTCTTCCTCAGTGCTGATGCACAACTTGCCCAAAATCCCTCTGGGAACTGGGAAGAGGAGAAACTAAAGTTTTAGATAATTCTGAGCCCAGAAAGCCAAAAA... | TTGGCCATCACACTTTTTACTAACTCAATGTTTTCCAAACTTTCCTGATATTAACCCTCCCCCGCTCTCCATGGTTTTTATTAAAAACAGATTCGTAGGCTGTCTCCCAACCCTTCTAAATTCAGGGGAGTGGCTTGGATCAGCATTTTATCAAGCCTGGGTCATTCTTATGGAGAGGCAAATGTGGTGCAAACTGCTCCACTGAAAAATATCCATTCTTCTTCCTCAGTGCTGATGCACAACTTGCCCAAAATCCCTCTGGGAACTGGGAAGAGGAGAAACTAAAGTTTTAGATAATTCTGAGCCCAGAAAGCCAAAAA... | benign | 43,602 |
Clinical classification of chromosome 2, position 151546398, gene NEB (nebulin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TGGAGGAGAGATGTGGTGCGGTGGTTTTCAACACAGGCTACATATTATTAAACAGAATCTCTATGGAGCATCTAAAAGTGTATAGATGCCCAGACACGGAGAATCAGTCTGGTGTGGAACAAGGGGTCAGGGCCCTCTCTGGGTGGATTTTAAATATTCCACAGGTGATTCTCATACTGAGCCAGAGTGGAAAAGCACAACTTTAGCAGGATAAAAATAACGTAAGCGTTCTAGTCTGAGTGCGAGTGCGGGCTGAAATAACACAGTGAAGCTTTTAGGAAAGCAAATTGGCTCAATGTTGCATTTGCAAAAGCTGAAGA... | TGGAGGAGAGATGTGGTGCGGTGGTTTTCAACACAGGCTACATATTATTAAACAGAATCTCTATGGAGCATCTAAAAGTGTATAGATGCCCAGACACGGAGAATCAGTCTGGTGTGGAACAAGGGGTCAGGGCCCTCTCTGGGTGGATTTTAAATATTCCACAGGTGATTCTCATACTGAGCCAGAGTGGAAAAGCACAACTTTAGCAGGATAAAAATAACGTAAGCGTTCTAGTCTGAGTGCGAGTGCGGGCTGAAATAACACAGTGAAGCTTTTAGGAAAGCAAATTGGCTCAATGTTGCATTTGCAAAAGCTGAAGA... | pathogenic | 43,604 |
Clinical significance of chromosome 2, position 151547539, gene NEB (nebulin): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CATGAACCCAGGAGACAGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTTCAGACTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAGAAAAAGAAAGGTCTTTCTAATCTATAAAATCATGCAAAACCCCTCATCAGCCCTAGACATAGGAAGAGCCAGTATGAATATGCGTATCTTACCAAAAGGGGGCAAAATAAGTAAACTGAGGTAAAGTGCAGTTGGTTGACTTGCTTAGACATAGTAGCCATTCCACAGTTAAGAGGGGAAATATTTTACCTGCCGCAGTTGCCTGAACAGCGATCACTAGAGG... | CATGAACCCAGGAGACAGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTTCAGACTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAGAAAAAGAAAGGTCTTTCTAATCTATAAAATCATGCAAAACCCCTCATCAGCCCTAGACATAGGAAGAGCCAGTATGAATATGCGTATCTTACCAAAAGGGGGCAAAATAAGTAAACTGAGGTAAAGTGCAGTTGGTTGACTTGCTTAGACATAGTAGCCATTCCACAGTTAAGAGGGGAAATATTTTACCTGCCGCAGTTGCCTGAACAGCGATCACTAGAGG... | benign | 43,608 |
Gene NEB (nebulin) variant at chromosome 2, position 151547642—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | AAAGGTCTTTCTAATCTATAAAATCATGCAAAACCCCTCATCAGCCCTAGACATAGGAAGAGCCAGTATGAATATGCGTATCTTACCAAAAGGGGGCAAAATAAGTAAACTGAGGTAAAGTGCAGTTGGTTGACTTGCTTAGACATAGTAGCCATTCCACAGTTAAGAGGGGAAATATTTTACCTGCCGCAGTTGCCTGAACAGCGATCACTAGAGGAACTAAGAGCCTTGTGGAGTAATTCAGTTTGTACTGGTCAATTTGATTGACTTCAATGACAAGTAAAGCGTCCTTACCTCACTCAGATGTGTCTTCAGTTCTT... | AAAGGTCTTTCTAATCTATAAAATCATGCAAAACCCCTCATCAGCCCTAGACATAGGAAGAGCCAGTATGAATATGCGTATCTTACCAAAAGGGGGCAAAATAAGTAAACTGAGGTAAAGTGCAGTTGGTTGACTTGCTTAGACATAGTAGCCATTCCACAGTTAAGAGGGGAAATATTTTACCTGCCGCAGTTGCCTGAACAGCGATCACTAGAGGAACTAAGAGCCTTGTGGAGTAATTCAGTTTGTACTGGTCAATTTGATTGACTTCAATGACAAGTAAAGCGTCCTTACCTCACTCAGATGTGTCTTCAGTTCTT... | pathogenic | 43,610 |
Is the genetic change at chromosome 2, position 151547682, within gene NEB (nebulin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | TCAGCCCTAGACATAGGAAGAGCCAGTATGAATATGCGTATCTTACCAAAAGGGGGCAAAATAAGTAAACTGAGGTAAAGTGCAGTTGGTTGACTTGCTTAGACATAGTAGCCATTCCACAGTTAAGAGGGGAAATATTTTACCTGCCGCAGTTGCCTGAACAGCGATCACTAGAGGAACTAAGAGCCTTGTGGAGTAATTCAGTTTGTACTGGTCAATTTGATTGACTTCAATGACAAGTAAAGCGTCCTTACCTCACTCAGATGTGTCTTCAGTTCTTGCACTTTTCTGTATTCTGGAGTGTCAAGCACCACTTTGTA... | TCAGCCCTAGACATAGGAAGAGCCAGTATGAATATGCGTATCTTACCAAAAGGGGGCAAAATAAGTAAACTGAGGTAAAGTGCAGTTGGTTGACTTGCTTAGACATAGTAGCCATTCCACAGTTAAGAGGGGAAATATTTTACCTGCCGCAGTTGCCTGAACAGCGATCACTAGAGGAACTAAGAGCCTTGTGGAGTAATTCAGTTTGTACTGGTCAATTTGATTGACTTCAATGACAAGTAAAGCGTCCTTACCTCACTCAGATGTGTCTTCAGTTCTTGCACTTTTCTGTATTCTGGAGTGTCAAGCACCACTTTGTA... | pathogenic | 43,611 |
Variant in NEB (nebulin), chromosome 2, position 151547731—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | AAGGGGGCAAAATAAGTAAACTGAGGTAAAGTGCAGTTGGTTGACTTGCTTAGACATAGTAGCCATTCCACAGTTAAGAGGGGAAATATTTTACCTGCCGCAGTTGCCTGAACAGCGATCACTAGAGGAACTAAGAGCCTTGTGGAGTAATTCAGTTTGTACTGGTCAATTTGATTGACTTCAATGACAAGTAAAGCGTCCTTACCTCACTCAGATGTGTCTTCAGTTCTTGCACTTTTCTGTATTCTGGAGTGTCAAGCACCACTTTGTATTTGTCTCGCATCTTCCTTGCCTTATCAGTGTATAGGTAATTAGACTTA... | AAGGGGGCAAAATAAGTAAACTGAGGTAAAGTGCAGTTGGTTGACTTGCTTAGACATAGTAGCCATTCCACAGTTAAGAGGGGAAATATTTTACCTGCCGCAGTTGCCTGAACAGCGATCACTAGAGGAACTAAGAGCCTTGTGGAGTAATTCAGTTTGTACTGGTCAATTTGATTGACTTCAATGACAAGTAAAGCGTCCTTACCTCACTCAGATGTGTCTTCAGTTCTTGCACTTTTCTGTATTCTGGAGTGTCAAGCACCACTTTGTATTTGTCTCGCATCTTCCTTGCCTTATCAGTGTATAGGTAATTAGACTTA... | pathogenic | 43,613 |
Variant chromosome 2, position 151549696, gene NEB (nebulin): benign or pathogenic? Disease(s)? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | CTTGTGTCTTCTTGACTTGGCGGATCTCAGGGGTATCGGGAGTTGTATGGATCTTGTCTTTCAGTTTGTGGTACAATTCCCGATACAGTCTCTACGTTGGAGGAAATATCATTACAGGCATTTAGTAGGGGACGACGAGGGCATCTACTGACTAATCAAGAATAAAATATTTTACATAAGGAAGAGGGGAGGAAATATCGAGGATATAGAAAATGATTGAGATTAGGAAAAAAGGAGAAAATGAGAGTTATTTCATTTAGGTGAAGAATTCTGAGCACAAAGCCTTCCACTTTCTATCAGATGGTTGCATAGTAGGATCA... | CTTGTGTCTTCTTGACTTGGCGGATCTCAGGGGTATCGGGAGTTGTATGGATCTTGTCTTTCAGTTTGTGGTACAATTCCCGATACAGTCTCTACGTTGGAGGAAATATCATTACAGGCATTTAGTAGGGGACGACGAGGGCATCTACTGACTAATCAAGAATAAAATATTTTACATAAGGAAGAGGGGAGGAAATATCGAGGATATAGAAAATGATTGAGATTAGGAAAAAAGGAGAAAATGAGAGTTATTTCATTTAGGTGAAGAATTCTGAGCACAAAGCCTTCCACTTTCTATCAGATGGTTGCATAGTAGGATCA... | pathogenic | 43,617 |
Is the variant located on chromosome 2 at position 151549725, gene NEB (nebulin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | GGGGTATCGGGAGTTGTATGGATCTTGTCTTTCAGTTTGTGGTACAATTCCCGATACAGTCTCTACGTTGGAGGAAATATCATTACAGGCATTTAGTAGGGGACGACGAGGGCATCTACTGACTAATCAAGAATAAAATATTTTACATAAGGAAGAGGGGAGGAAATATCGAGGATATAGAAAATGATTGAGATTAGGAAAAAAGGAGAAAATGAGAGTTATTTCATTTAGGTGAAGAATTCTGAGCACAAAGCCTTCCACTTTCTATCAGATGGTTGCATAGTAGGATCAGATATGCAAACCAATAGTTGGTGTAGAAA... | GGGGTATCGGGAGTTGTATGGATCTTGTCTTTCAGTTTGTGGTACAATTCCCGATACAGTCTCTACGTTGGAGGAAATATCATTACAGGCATTTAGTAGGGGACGACGAGGGCATCTACTGACTAATCAAGAATAAAATATTTTACATAAGGAAGAGGGGAGGAAATATCGAGGATATAGAAAATGATTGAGATTAGGAAAAAAGGAGAAAATGAGAGTTATTTCATTTAGGTGAAGAATTCTGAGCACAAAGCCTTCCACTTTCTATCAGATGGTTGCATAGTAGGATCAGATATGCAAACCAATAGTTGGTGTAGAAA... | pathogenic | 43,618 |
Is chromosome 2, position 151563884, gene NEB (nebulin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | GTACAGATGCTTGAGAGTAGTTCACTAAGAAACACCTCCCAGATAAGCTTTTATTATAAATGTGCATTGCCTTAAACCAAAGGAGAGACTCAGACTGGGAAGATCCAGCCCCAGAGCAGGACACTAGAAGAGCTTTGATTGGGAGAGGAGGGGCTTTGGTCAGTTAGAGCCTACACTGTTACAGCAACTTTCTTTGCCTGCCCATCAGCCCACTGACACCACCATGGATTCTGATGACCCATGGAGAACCAGTCCTTCTAGGAAGGTGGCTCACCTGACTCTGAAGGTCGTATGATTTCTTGGCATGGAGGATTTGGGGT... | GTACAGATGCTTGAGAGTAGTTCACTAAGAAACACCTCCCAGATAAGCTTTTATTATAAATGTGCATTGCCTTAAACCAAAGGAGAGACTCAGACTGGGAAGATCCAGCCCCAGAGCAGGACACTAGAAGAGCTTTGATTGGGAGAGGAGGGGCTTTGGTCAGTTAGAGCCTACACTGTTACAGCAACTTTCTTTGCCTGCCCATCAGCCCACTGACACCACCATGGATTCTGATGACCCATGGAGAACCAGTCCTTCTAGGAAGGTGGCTCACCTGACTCTGAAGGTCGTATGATTTCTTGGCATGGAGGATTTGGGGT... | pathogenic | 43,673 |
The mutation in gene NEB (nebulin) at chromosome 2, position 151565142—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | AACCTCTGCCTCCTGGGTTCAAATAATTCTCATGCCTCAGCATCCAGAGTAACTAGAATTACAGGCATGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCTGGTGATCTGCCTGCCTTGGCCTCCAAAGTGCTGGGATTACAGGTGTGAGCCATTTCACCTGGCCTGAAGTTTTCCATCCTTTTATAACACAGGGTAAATAGTGACCTTGATGCTTTTTCCTTTTCTGAACACAAAGCAGTCACAGTGTTAAATAGTCAGGGAGA... | AACCTCTGCCTCCTGGGTTCAAATAATTCTCATGCCTCAGCATCCAGAGTAACTAGAATTACAGGCATGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCTGGTGATCTGCCTGCCTTGGCCTCCAAAGTGCTGGGATTACAGGTGTGAGCCATTTCACCTGGCCTGAAGTTTTCCATCCTTTTATAACACAGGGTAAATAGTGACCTTGATGCTTTTTCCTTTTCTGAACACAAAGCAGTCACAGTGTTAAATAGTCAGGGAGA... | pathogenic | 43,678 |
Benign or pathogenic: chromosome 2, position 151565148, gene NEB (nebulin) variant? Disease(s) if pathogenic? | pathogenic; ['Nemaline_myopathy_2'] | TGCCTCCTGGGTTCAAATAATTCTCATGCCTCAGCATCCAGAGTAACTAGAATTACAGGCATGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCTGGTGATCTGCCTGCCTTGGCCTCCAAAGTGCTGGGATTACAGGTGTGAGCCATTTCACCTGGCCTGAAGTTTTCCATCCTTTTATAACACAGGGTAAATAGTGACCTTGATGCTTTTTCCTTTTCTGAACACAAAGCAGTCACAGTGTTAAATAGTCAGGGAGAAAGTGG... | TGCCTCCTGGGTTCAAATAATTCTCATGCCTCAGCATCCAGAGTAACTAGAATTACAGGCATGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCTGGTGATCTGCCTGCCTTGGCCTCCAAAGTGCTGGGATTACAGGTGTGAGCCATTTCACCTGGCCTGAAGTTTTCCATCCTTTTATAACACAGGGTAAATAGTGACCTTGATGCTTTTTCCTTTTCTGAACACAAAGCAGTCACAGTGTTAAATAGTCAGGGAGAAAGTGG... | pathogenic | 43,679 |
Regarding the variant at chromosome 2 and position 151565748, affecting gene NEB (nebulin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Nemaline_myopathy_2'] | TATGTCTCTTTGTATTTAAGCTGTAAAGTGGGTTAAACATTGAGAATCGCTGGAGTTTCCTAACCAGCCCCTTGATCCCCAGTAAAGACTCTCAAACTTAGGAGAGGAAAAGGTCATACTGACCTCACTGTTCACCAGATCAGCATGCTTGGCTCCAACAATGGGAATGTAGCGCTCATCCAGGGTGTAGCCATAGGCCTTGGTGCCCTCCCACGCCCCTTTATACAGTATCTAGAACAAAGAAATACATGGCAACAAAAGTTTTCTTTCAACTTCTTTCAGATACCACTAAAACAATTGGTCTAATTAAGGTGAAACAT... | TATGTCTCTTTGTATTTAAGCTGTAAAGTGGGTTAAACATTGAGAATCGCTGGAGTTTCCTAACCAGCCCCTTGATCCCCAGTAAAGACTCTCAAACTTAGGAGAGGAAAAGGTCATACTGACCTCACTGTTCACCAGATCAGCATGCTTGGCTCCAACAATGGGAATGTAGCGCTCATCCAGGGTGTAGCCATAGGCCTTGGTGCCCTCCCACGCCCCTTTATACAGTATCTAGAACAAAGAAATACATGGCAACAAAAGTTTTCTTTCAACTTCTTTCAGATACCACTAAAACAATTGGTCTAATTAAGGTGAAACAT... | pathogenic | 43,684 |
Is chromosome 2, position 151565765, gene NEB (nebulin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | AAGCTGTAAAGTGGGTTAAACATTGAGAATCGCTGGAGTTTCCTAACCAGCCCCTTGATCCCCAGTAAAGACTCTCAAACTTAGGAGAGGAAAAGGTCATACTGACCTCACTGTTCACCAGATCAGCATGCTTGGCTCCAACAATGGGAATGTAGCGCTCATCCAGGGTGTAGCCATAGGCCTTGGTGCCCTCCCACGCCCCTTTATACAGTATCTAGAACAAAGAAATACATGGCAACAAAAGTTTTCTTTCAACTTCTTTCAGATACCACTAAAACAATTGGTCTAATTAAGGTGAAACATGTATGTTCAAGGCAAGG... | AAGCTGTAAAGTGGGTTAAACATTGAGAATCGCTGGAGTTTCCTAACCAGCCCCTTGATCCCCAGTAAAGACTCTCAAACTTAGGAGAGGAAAAGGTCATACTGACCTCACTGTTCACCAGATCAGCATGCTTGGCTCCAACAATGGGAATGTAGCGCTCATCCAGGGTGTAGCCATAGGCCTTGGTGCCCTCCCACGCCCCTTTATACAGTATCTAGAACAAAGAAATACATGGCAACAAAAGTTTTCTTTCAACTTCTTTCAGATACCACTAAAACAATTGGTCTAATTAAGGTGAAACATGTATGTTCAAGGCAAGG... | pathogenic | 43,685 |
Assess the variant on chromosome 2, position 151567296, impacting NEB (nebulin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | TAACCAACTGGTTGAATTTTAGCCCATTTTAGCTAAAACAATAGAATAATTTGGATAGGAATATAGATATCTAAAAGTGAATACAATTCACCACCTGCTAGTGACTTTTAAGACATACCCCCCAAAGATGATCTTAGAATTTACCACCTCCCAATTTTTTTACAAGCAATTATCTAAAGTTAAGCTAATCCACCCAATGATAGACAATTTACTCCCCAGTCTGTGCACTTCAGCATGCACAAAGCAAACTTACATCACTTTGATTGACAGAATTAATCTTGGCTAAAACAATCTCTGGAGGATCCACCACACTTCTAAAG... | TAACCAACTGGTTGAATTTTAGCCCATTTTAGCTAAAACAATAGAATAATTTGGATAGGAATATAGATATCTAAAAGTGAATACAATTCACCACCTGCTAGTGACTTTTAAGACATACCCCCCAAAGATGATCTTAGAATTTACCACCTCCCAATTTTTTTACAAGCAATTATCTAAAGTTAAGCTAATCCACCCAATGATAGACAATTTACTCCCCAGTCTGTGCACTTCAGCATGCACAAAGCAAACTTACATCACTTTGATTGACAGAATTAATCTTGGCTAAAACAATCTCTGGAGGATCCACCACACTTCTAAAG... | pathogenic | 43,691 |
Gene NEB (nebulin) variant at chromosome 2, position 151567337—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | TAGAATAATTTGGATAGGAATATAGATATCTAAAAGTGAATACAATTCACCACCTGCTAGTGACTTTTAAGACATACCCCCCAAAGATGATCTTAGAATTTACCACCTCCCAATTTTTTTACAAGCAATTATCTAAAGTTAAGCTAATCCACCCAATGATAGACAATTTACTCCCCAGTCTGTGCACTTCAGCATGCACAAAGCAAACTTACATCACTTTGATTGACAGAATTAATCTTGGCTAAAACAATCTCTGGAGGATCCACCACACTTCTAAAGTTAGGATAGTTTTCAAGGGCATTTTTCTTATATTTGATCTG... | TAGAATAATTTGGATAGGAATATAGATATCTAAAAGTGAATACAATTCACCACCTGCTAGTGACTTTTAAGACATACCCCCCAAAGATGATCTTAGAATTTACCACCTCCCAATTTTTTTACAAGCAATTATCTAAAGTTAAGCTAATCCACCCAATGATAGACAATTTACTCCCCAGTCTGTGCACTTCAGCATGCACAAAGCAAACTTACATCACTTTGATTGACAGAATTAATCTTGGCTAAAACAATCTCTGGAGGATCCACCACACTTCTAAAGTTAGGATAGTTTTCAAGGGCATTTTTCTTATATTTGATCTG... | pathogenic | 43,692 |
Mutation found at chromosome 2 position 151568086, gene NEB (nebulin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TCTAGGAGTTGAGATAAGTCATTTATAAAGCAAGAAGTGCTGTTAGATCGAGTGCTCAAATGCTATTGGAGTTGAGGGGAAGGGGCTGTTATTTTCTGCTATCGTCATAAGAAAAGGCTTACCAAGGAGGTTGTACTTTTAGATGGATTTGATACATTTAGTCACGTAGAAGTATGTGGGGCATTTAGACTAAATGAGGGAAACTACACAAGTAAATATTCACGTATTGGGTAGGGGAGGCATCCCCTGGGTCCCAGCCAAACCTATTCTTGCCCTTACGCCTTCAAGAACCTAGATTCTCCCAGCCAACTCGACATGAA... | TCTAGGAGTTGAGATAAGTCATTTATAAAGCAAGAAGTGCTGTTAGATCGAGTGCTCAAATGCTATTGGAGTTGAGGGGAAGGGGCTGTTATTTTCTGCTATCGTCATAAGAAAAGGCTTACCAAGGAGGTTGTACTTTTAGATGGATTTGATACATTTAGTCACGTAGAAGTATGTGGGGCATTTAGACTAAATGAGGGAAACTACACAAGTAAATATTCACGTATTGGGTAGGGGAGGCATCCCCTGGGTCCCAGCCAAACCTATTCTTGCCCTTACGCCTTCAAGAACCTAGATTCTCCCAGCCAACTCGACATGAA... | pathogenic | 43,697 |
Determine whether the variant at chromosome 2, position 151568133, in gene NEB (nebulin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TCGAGTGCTCAAATGCTATTGGAGTTGAGGGGAAGGGGCTGTTATTTTCTGCTATCGTCATAAGAAAAGGCTTACCAAGGAGGTTGTACTTTTAGATGGATTTGATACATTTAGTCACGTAGAAGTATGTGGGGCATTTAGACTAAATGAGGGAAACTACACAAGTAAATATTCACGTATTGGGTAGGGGAGGCATCCCCTGGGTCCCAGCCAAACCTATTCTTGCCCTTACGCCTTCAAGAACCTAGATTCTCCCAGCCAACTCGACATGAAAATAAGAAGAGTTGCTATTCTGATTTAAGTTCCACAACAGCTATTTT... | TCGAGTGCTCAAATGCTATTGGAGTTGAGGGGAAGGGGCTGTTATTTTCTGCTATCGTCATAAGAAAAGGCTTACCAAGGAGGTTGTACTTTTAGATGGATTTGATACATTTAGTCACGTAGAAGTATGTGGGGCATTTAGACTAAATGAGGGAAACTACACAAGTAAATATTCACGTATTGGGTAGGGGAGGCATCCCCTGGGTCCCAGCCAAACCTATTCTTGCCCTTACGCCTTCAAGAACCTAGATTCTCCCAGCCAACTCGACATGAAAATAAGAAGAGTTGCTATTCTGATTTAAGTTCCACAACAGCTATTTT... | pathogenic | 43,698 |
Variant in NEB (nebulin), chromosome 2, position 151568356—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | TGCCCTTACGCCTTCAAGAACCTAGATTCTCCCAGCCAACTCGACATGAAAATAAGAAGAGTTGCTATTCTGATTTAAGTTCCACAACAGCTATTTTGCTGCAGCAACCAGTGAGGTCAGATGTTCAAGTTCAACATCTATGCTGCAGCAGTCTTTGACTTCCAGGTTCCCTTTTGTTAATGATGAGAAGACCCAGGGAGCATTAGCTTCTCTGGGCACCTAAGCAACTAAGTTGATGCATCCAGTTACTGTTCTGCACATGCAGAAGGCTGGTGGCAAGTAGAGATCTTGATTCAGGCTTCAGTGGGAGGTAGGTTATG... | TGCCCTTACGCCTTCAAGAACCTAGATTCTCCCAGCCAACTCGACATGAAAATAAGAAGAGTTGCTATTCTGATTTAAGTTCCACAACAGCTATTTTGCTGCAGCAACCAGTGAGGTCAGATGTTCAAGTTCAACATCTATGCTGCAGCAGTCTTTGACTTCCAGGTTCCCTTTTGTTAATGATGAGAAGACCCAGGGAGCATTAGCTTCTCTGGGCACCTAAGCAACTAAGTTGATGCATCCAGTTACTGTTCTGCACATGCAGAAGGCTGGTGGCAAGTAGAGATCTTGATTCAGGCTTCAGTGGGAGGTAGGTTATG... | pathogenic | 43,701 |
Variant at chromosome position 151568419, chromosome 2, gene NEB (nebulin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GCTATTCTGATTTAAGTTCCACAACAGCTATTTTGCTGCAGCAACCAGTGAGGTCAGATGTTCAAGTTCAACATCTATGCTGCAGCAGTCTTTGACTTCCAGGTTCCCTTTTGTTAATGATGAGAAGACCCAGGGAGCATTAGCTTCTCTGGGCACCTAAGCAACTAAGTTGATGCATCCAGTTACTGTTCTGCACATGCAGAAGGCTGGTGGCAAGTAGAGATCTTGATTCAGGCTTCAGTGGGAGGTAGGTTATGTCTTATTCTCTATCCTAGCTTTACCAAAGCTCTGCATGAGGCATACTGGGCCCTCATGCAGCT... | GCTATTCTGATTTAAGTTCCACAACAGCTATTTTGCTGCAGCAACCAGTGAGGTCAGATGTTCAAGTTCAACATCTATGCTGCAGCAGTCTTTGACTTCCAGGTTCCCTTTTGTTAATGATGAGAAGACCCAGGGAGCATTAGCTTCTCTGGGCACCTAAGCAACTAAGTTGATGCATCCAGTTACTGTTCTGCACATGCAGAAGGCTGGTGGCAAGTAGAGATCTTGATTCAGGCTTCAGTGGGAGGTAGGTTATGTCTTATTCTCTATCCTAGCTTTACCAAAGCTCTGCATGAGGCATACTGGGCCCTCATGCAGCT... | benign | 43,702 |
Variant in NEB (nebulin), chromosome 2, position 151568710—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | CATGAGGCATACTGGGCCCTCATGCAGCTTAATCAGTATTTTGTTTCTCTTTTGCTTTGCGAACAACTTCATAAATGCCGTGAGGAATGAGATGCTTGGCAAAGCAGGAATAGGGCATGCTTAGGTCTTTAACTGTGCTATCATCTAATATTGTCAAAACCTCAACTCATTCTCAATTCCCACCCAAGCCAATTATTATTTTCCATCAGCTGATACTTTTCTATGTGAATGTGAGTGAGGAGTTGCTGATGGCCAAAATGGTACAAAAGCAGCAGATTTTTTTTAAAAAAATTTGATTGAAAGTTACTCAGAAATGCAGT... | CATGAGGCATACTGGGCCCTCATGCAGCTTAATCAGTATTTTGTTTCTCTTTTGCTTTGCGAACAACTTCATAAATGCCGTGAGGAATGAGATGCTTGGCAAAGCAGGAATAGGGCATGCTTAGGTCTTTAACTGTGCTATCATCTAATATTGTCAAAACCTCAACTCATTCTCAATTCCCACCCAAGCCAATTATTATTTTCCATCAGCTGATACTTTTCTATGTGAATGTGAGTGAGGAGTTGCTGATGGCCAAAATGGTACAAAAGCAGCAGATTTTTTTTAAAAAAATTTGATTGAAAGTTACTCAGAAATGCAGT... | pathogenic | 43,705 |
Evaluate if the mutation on chromosome 2 at position 151570080 in NEB (nebulin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | CCCACTTTTGCAAAATGCACTCCCATCAGGATGTATTACCTCACTCTGAACGTCATTGCAGTGATGGGCATGAACAAATGGCACAGCATCTGGAGGCAAAATGTAACCTGTGGCTTTTTGTCTCTCCCAGCCTTCCTTGTAGAGATACTGAAAGACAGAGCCACCATAAAGGGTTAAAATGAGGAGTCAGAAGGGAGGGGTAAGTTGTGTGCATAATTATCCTACAGTTCCATTAAGGCCCTCCACTCGTACACAAACACCAGGCATGTGGGTGAAACCCATACCTGGTCCAGTATCCTAGCAGCCTCCTGGGCAGTGTG... | CCCACTTTTGCAAAATGCACTCCCATCAGGATGTATTACCTCACTCTGAACGTCATTGCAGTGATGGGCATGAACAAATGGCACAGCATCTGGAGGCAAAATGTAACCTGTGGCTTTTTGTCTCTCCCAGCCTTCCTTGTAGAGATACTGAAAGACAGAGCCACCATAAAGGGTTAAAATGAGGAGTCAGAAGGGAGGGGTAAGTTGTGTGCATAATTATCCTACAGTTCCATTAAGGCCCTCCACTCGTACACAAACACCAGGCATGTGGGTGAAACCCATACCTGGTCCAGTATCCTAGCAGCCTCCTGGGCAGTGTG... | pathogenic | 43,710 |
Chromosome 2, position 151570200, gene NEB (nebulin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TCTCTCCCAGCCTTCCTTGTAGAGATACTGAAAGACAGAGCCACCATAAAGGGTTAAAATGAGGAGTCAGAAGGGAGGGGTAAGTTGTGTGCATAATTATCCTACAGTTCCATTAAGGCCCTCCACTCGTACACAAACACCAGGCATGTGGGTGAAACCCATACCTGGTCCAGTATCCTAGCAGCCTCCTGGGCAGTGTGCAGCAGGGGGGTTTCTGTGAGGGTGTACTTTGATTTGGTGGCATTCCAGTCTTTCCGGTATTTAATCTAAAAAAAAAAAAATGAGAGGCAAGGGGGCAAGTTACTTGTTAAGAAAGCATC... | TCTCTCCCAGCCTTCCTTGTAGAGATACTGAAAGACAGAGCCACCATAAAGGGTTAAAATGAGGAGTCAGAAGGGAGGGGTAAGTTGTGTGCATAATTATCCTACAGTTCCATTAAGGCCCTCCACTCGTACACAAACACCAGGCATGTGGGTGAAACCCATACCTGGTCCAGTATCCTAGCAGCCTCCTGGGCAGTGTGCAGCAGGGGGGTTTCTGTGAGGGTGTACTTTGATTTGGTGGCATTCCAGTCTTTCCGGTATTTAATCTAAAAAAAAAAAAATGAGAGGCAAGGGGGCAAGTTACTTGTTAAGAAAGCATC... | pathogenic | 43,712 |
Evaluate if the mutation on chromosome 2 at position 151570268 in NEB (nebulin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | AGAAGGGAGGGGTAAGTTGTGTGCATAATTATCCTACAGTTCCATTAAGGCCCTCCACTCGTACACAAACACCAGGCATGTGGGTGAAACCCATACCTGGTCCAGTATCCTAGCAGCCTCCTGGGCAGTGTGCAGCAGGGGGGTTTCTGTGAGGGTGTACTTTGATTTGGTGGCATTCCAGTCTTTCCGGTATTTAATCTAAAAAAAAAAAAATGAGAGGCAAGGGGGCAAGTTACTTGTTAAGAAAGCATCATGTTGTCCAAGCAATTGTTAGCATCCATCATTTCAATGATTAAAATCTGTATTTCAGATGATTGCAT... | AGAAGGGAGGGGTAAGTTGTGTGCATAATTATCCTACAGTTCCATTAAGGCCCTCCACTCGTACACAAACACCAGGCATGTGGGTGAAACCCATACCTGGTCCAGTATCCTAGCAGCCTCCTGGGCAGTGTGCAGCAGGGGGGTTTCTGTGAGGGTGTACTTTGATTTGGTGGCATTCCAGTCTTTCCGGTATTTAATCTAAAAAAAAAAAAATGAGAGGCAAGGGGGCAAGTTACTTGTTAAGAAAGCATCATGTTGTCCAAGCAATTGTTAGCATCCATCATTTCAATGATTAAAATCTGTATTTCAGATGATTGCAT... | pathogenic | 43,715 |
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