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 |
|---|---|---|---|---|---|
For chromosome 2, position 151570594, gene NEB (nebulin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TGTAAGTAGATGGAAAAGCTTTGGAAGTGATATCTGCATCACTGTGAGATTTTAAAACAGCCATATACTTACATCATCGAGGATCTCGCCACTTTGTTTCGCTGTCACATAATCAACTCTGTCATCCACAGGCGTAAAGTTGAGAGTTTCTATTTTTGTGCGATATTTTTTCTATGGGAAAGAAAGCATCTTTTAGATAGTTGTAATTCCTAGACATGTGTGAACTGAGAAGATACACTAAATTTAGAGTCCTTCTCTACTAGAAACATACAGTGCCGTATTTGAATAGCGTCTTCTTGGGAATTTGGCTTTCTTTTTAG... | TGTAAGTAGATGGAAAAGCTTTGGAAGTGATATCTGCATCACTGTGAGATTTTAAAACAGCCATATACTTACATCATCGAGGATCTCGCCACTTTGTTTCGCTGTCACATAATCAACTCTGTCATCCACAGGCGTAAAGTTGAGAGTTTCTATTTTTGTGCGATATTTTTTCTATGGGAAAGAAAGCATCTTTTAGATAGTTGTAATTCCTAGACATGTGTGAACTGAGAAGATACACTAAATTTAGAGTCCTTCTCTACTAGAAACATACAGTGCCGTATTTGAATAGCGTCTTCTTGGGAATTTGGCTTTCTTTTTAG... | pathogenic | 43,719 |
The mutation in gene NEB (nebulin) at chromosome 2, position 151576219—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Nemaline_myopathy'] | TCACCGTGTTAGGCAGGATGGTCTCGATCTCCTGACCTCGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCAGGCATGTTCTTACTCTTGAGTAATTATATTAGCATCAATGAGAATCTCACTCACTTAGCCAATACTTCCAGCAAATGTTAAATAATGATGATATTAGGGGCACCCTCATTTTAATCCTGATATGAATGAGAAGTTTGGTCACTGAGGATGAGTTGGCCTTTGATTTGAGATTTATTTTTCAGTCATGTTGAGAAAATATTCATTTATTCTTTCTTAACTAA... | TCACCGTGTTAGGCAGGATGGTCTCGATCTCCTGACCTCGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCAGGCATGTTCTTACTCTTGAGTAATTATATTAGCATCAATGAGAATCTCACTCACTTAGCCAATACTTCCAGCAAATGTTAAATAATGATGATATTAGGGGCACCCTCATTTTAATCCTGATATGAATGAGAAGTTTGGTCACTGAGGATGAGTTGGCCTTTGATTTGAGATTTATTTTTCAGTCATGTTGAGAAAATATTCATTTATTCTTTCTTAACTAA... | pathogenic | 43,723 |
Evaluate the clinical significance of the mutation at chromosome 2, position 151591331 in gene NEB (nebulin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GAGCTGAGACTCCAGCCTGGGCCGCAGGGCCAGACTAAGGAAGGAAGGAAGGAACAAAGAAACGAACTGCAAGGCTGGGCGCGGTGGCTCACATCTATAATCCCAGAACTTTGGGAGGCTGAGACAAGTGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAAGATGGCGAAAACCCGCCTCTAATAAAAATACAAAAATTAGCTGGGTGTGGTGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGATGCAGGAACATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGGGCTGAGATTGCACCACTGCAC... | GAGCTGAGACTCCAGCCTGGGCCGCAGGGCCAGACTAAGGAAGGAAGGAAGGAACAAAGAAACGAACTGCAAGGCTGGGCGCGGTGGCTCACATCTATAATCCCAGAACTTTGGGAGGCTGAGACAAGTGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAAGATGGCGAAAACCCGCCTCTAATAAAAATACAAAAATTAGCTGGGTGTGGTGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGATGCAGGAACATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGGGCTGAGATTGCACCACTGCAC... | benign | 43,746 |
Is chromosome 2, position 151591463, gene NEB (nebulin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAAGATGGCGAAAACCCGCCTCTAATAAAAATACAAAAATTAGCTGGGTGTGGTGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGATGCAGGAACATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGGGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAACTGGAAACACTGTACACATTAACAAATCTATAGGAAAATTCTGGTAGCACCTTTAACAATGAAAACTT... | TCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAAGATGGCGAAAACCCGCCTCTAATAAAAATACAAAAATTAGCTGGGTGTGGTGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGATGCAGGAACATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGGGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAACTGGAAACACTGTACACATTAACAAATCTATAGGAAAATTCTGGTAGCACCTTTAACAATGAAAACTT... | benign | 43,749 |
A genetic variant on chromosome 2, position 151601884, affects the gene NEB (nebulin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GAGCTGAGACTCCAGCCTGGGCCGCAGGGCCAGACTAAGGAAGGAAGGAAGGAACAAAGAAACGAACTGCAAGGCTGGGCGCGGTGGCTCACATCTATAATCCCAGAACTTTGGGAGGCTGAGACAAGTGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAAGATGGCGAAAACCCGCCTCTAATAAAAATACAAAAATTAGCTGGGTGTGGTGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGATGCAGGAACATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGGGCTGAGATTGCACCACTGCAC... | GAGCTGAGACTCCAGCCTGGGCCGCAGGGCCAGACTAAGGAAGGAAGGAAGGAACAAAGAAACGAACTGCAAGGCTGGGCGCGGTGGCTCACATCTATAATCCCAGAACTTTGGGAGGCTGAGACAAGTGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAAGATGGCGAAAACCCGCCTCTAATAAAAATACAAAAATTAGCTGGGTGTGGTGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGATGCAGGAACATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGGGCTGAGATTGCACCACTGCAC... | benign | 43,767 |
A genetic variant on chromosome 2, position 151603611, affects the gene NEB (nebulin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TTATAGGAAACACCGGTAGTATACACGCCACACTTTGAGTAACAACAGAATTCTCTGTACTATGAAATTAAATCTCTTTAAGTACTTGTAAATTAAGTGACATTGTGAAGATATTGAAAAGAAAATCAAAATCTGTGCTTAAACGCAAGAGTTGCAGAACCAAACATAGATGCAAAAGGATCCTCAGATTGTAAGAGTTGTTCTTGAATTTAGGATTTACAAATATACTAATAACAATGACCCAATTCCATTTAAATATAATTCAAAGGGCATTAAGTTAAACTCCCTCTATTTCTACTAGTTAGTGTTTGTTCCGGTTG... | TTATAGGAAACACCGGTAGTATACACGCCACACTTTGAGTAACAACAGAATTCTCTGTACTATGAAATTAAATCTCTTTAAGTACTTGTAAATTAAGTGACATTGTGAAGATATTGAAAAGAAAATCAAAATCTGTGCTTAAACGCAAGAGTTGCAGAACCAAACATAGATGCAAAAGGATCCTCAGATTGTAAGAGTTGTTCTTGAATTTAGGATTTACAAATATACTAATAACAATGACCCAATTCCATTTAAATATAATTCAAAGGGCATTAAGTTAAACTCCCTCTATTTCTACTAGTTAGTGTTTGTTCCGGTTG... | pathogenic | 43,775 |
Variant at chromosome position 151603700, chromosome 2, gene NEB (nebulin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'NEB-related_disorder', 'Nemaline_myopathy_2'] | AAATTAAGTGACATTGTGAAGATATTGAAAAGAAAATCAAAATCTGTGCTTAAACGCAAGAGTTGCAGAACCAAACATAGATGCAAAAGGATCCTCAGATTGTAAGAGTTGTTCTTGAATTTAGGATTTACAAATATACTAATAACAATGACCCAATTCCATTTAAATATAATTCAAAGGGCATTAAGTTAAACTCCCTCTATTTCTACTAGTTAGTGTTTGTTCCGGTTGGGAAGGAGGAGCTCTTACGTCACTGGCAATATCCCTGGAAGCCTTGGCATGCTGGATCCCAATGGCATCTGCTCGCAGGTCATAACCAG... | AAATTAAGTGACATTGTGAAGATATTGAAAAGAAAATCAAAATCTGTGCTTAAACGCAAGAGTTGCAGAACCAAACATAGATGCAAAAGGATCCTCAGATTGTAAGAGTTGTTCTTGAATTTAGGATTTACAAATATACTAATAACAATGACCCAATTCCATTTAAATATAATTCAAAGGGCATTAAGTTAAACTCCCTCTATTTCTACTAGTTAGTGTTTGTTCCGGTTGGGAAGGAGGAGCTCTTACGTCACTGGCAATATCCCTGGAAGCCTTGGCATGCTGGATCCCAATGGCATCTGCTCGCAGGTCATAACCAG... | pathogenic | 43,778 |
Classify the chromosome 2 variant at position 151609917 affecting gene NEB (nebulin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Arthrogryposis_multiplex_congenita_6'] | AGGAGACTACCCTTCATGATGTGGGTGAGCCTTATCTAATTAGTTGAAGACCTTGATAGAAAAGACAAACCTCCCCAGTAAAAAGGAATTCTGCCAGCAGATGGCCTTTGGGTTTGAATTGCAACACATCCCTCAGTCTCTAGCCGGCTGGCCTACCCTGCAGACTTTGGACTTGCCAGCCTGCATGATCTCAGGAGCCAATTTCTTAAAGTCTCTCTCTTCTGTGTGTGTGTACAAACACACACACACAAACACACACACACACACAGCCCCTATTGGTTCTGTTTCTCTAGAGAATCTGGACTAATACAATGTTATGT... | AGGAGACTACCCTTCATGATGTGGGTGAGCCTTATCTAATTAGTTGAAGACCTTGATAGAAAAGACAAACCTCCCCAGTAAAAAGGAATTCTGCCAGCAGATGGCCTTTGGGTTTGAATTGCAACACATCCCTCAGTCTCTAGCCGGCTGGCCTACCCTGCAGACTTTGGACTTGCCAGCCTGCATGATCTCAGGAGCCAATTTCTTAAAGTCTCTCTCTTCTGTGTGTGTGTACAAACACACACACACAAACACACACACACACACAGCCCCTATTGGTTCTGTTTCTCTAGAGAATCTGGACTAATACAATGTTATGT... | pathogenic | 43,794 |
Mutation found at chromosome 2 position 151609956, gene NEB (nebulin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TTAGTTGAAGACCTTGATAGAAAAGACAAACCTCCCCAGTAAAAAGGAATTCTGCCAGCAGATGGCCTTTGGGTTTGAATTGCAACACATCCCTCAGTCTCTAGCCGGCTGGCCTACCCTGCAGACTTTGGACTTGCCAGCCTGCATGATCTCAGGAGCCAATTTCTTAAAGTCTCTCTCTTCTGTGTGTGTGTACAAACACACACACACAAACACACACACACACACAGCCCCTATTGGTTCTGTTTCTCTAGAGAATCTGGACTAATACAATGTTATGTTATTATGTAGCATGACACTACATGTCTTAGTATTTAATA... | TTAGTTGAAGACCTTGATAGAAAAGACAAACCTCCCCAGTAAAAAGGAATTCTGCCAGCAGATGGCCTTTGGGTTTGAATTGCAACACATCCCTCAGTCTCTAGCCGGCTGGCCTACCCTGCAGACTTTGGACTTGCCAGCCTGCATGATCTCAGGAGCCAATTTCTTAAAGTCTCTCTCTTCTGTGTGTGTGTACAAACACACACACACAAACACACACACACACACAGCCCCTATTGGTTCTGTTTCTCTAGAGAATCTGGACTAATACAATGTTATGTTATTATGTAGCATGACACTACATGTCTTAGTATTTAATA... | pathogenic | 43,796 |
Benign or pathogenic: chromosome 2, position 151609972, gene NEB (nebulin) variant? Disease(s) if pathogenic? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | ATAGAAAAGACAAACCTCCCCAGTAAAAAGGAATTCTGCCAGCAGATGGCCTTTGGGTTTGAATTGCAACACATCCCTCAGTCTCTAGCCGGCTGGCCTACCCTGCAGACTTTGGACTTGCCAGCCTGCATGATCTCAGGAGCCAATTTCTTAAAGTCTCTCTCTTCTGTGTGTGTGTACAAACACACACACACAAACACACACACACACACAGCCCCTATTGGTTCTGTTTCTCTAGAGAATCTGGACTAATACAATGTTATGTTATTATGTAGCATGACACTACATGTCTTAGTATTTAATATGAGGTCAACAAGTAT... | ATAGAAAAGACAAACCTCCCCAGTAAAAAGGAATTCTGCCAGCAGATGGCCTTTGGGTTTGAATTGCAACACATCCCTCAGTCTCTAGCCGGCTGGCCTACCCTGCAGACTTTGGACTTGCCAGCCTGCATGATCTCAGGAGCCAATTTCTTAAAGTCTCTCTCTTCTGTGTGTGTGTACAAACACACACACACAAACACACACACACACACAGCCCCTATTGGTTCTGTTTCTCTAGAGAATCTGGACTAATACAATGTTATGTTATTATGTAGCATGACACTACATGTCTTAGTATTTAATATGAGGTCAACAAGTAT... | pathogenic | 43,797 |
Does the chromosome 2 mutation at position 151609978 within gene NEB (nebulin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | AAGACAAACCTCCCCAGTAAAAAGGAATTCTGCCAGCAGATGGCCTTTGGGTTTGAATTGCAACACATCCCTCAGTCTCTAGCCGGCTGGCCTACCCTGCAGACTTTGGACTTGCCAGCCTGCATGATCTCAGGAGCCAATTTCTTAAAGTCTCTCTCTTCTGTGTGTGTGTACAAACACACACACACAAACACACACACACACACAGCCCCTATTGGTTCTGTTTCTCTAGAGAATCTGGACTAATACAATGTTATGTTATTATGTAGCATGACACTACATGTCTTAGTATTTAATATGAGGTCAACAAGTATTTGTGT... | AAGACAAACCTCCCCAGTAAAAAGGAATTCTGCCAGCAGATGGCCTTTGGGTTTGAATTGCAACACATCCCTCAGTCTCTAGCCGGCTGGCCTACCCTGCAGACTTTGGACTTGCCAGCCTGCATGATCTCAGGAGCCAATTTCTTAAAGTCTCTCTCTTCTGTGTGTGTGTACAAACACACACACACAAACACACACACACACACAGCCCCTATTGGTTCTGTTTCTCTAGAGAATCTGGACTAATACAATGTTATGTTATTATGTAGCATGACACTACATGTCTTAGTATTTAATATGAGGTCAACAAGTATTTGTGT... | pathogenic | 43,799 |
Clinical significance of chromosome 2, position 151614289, gene NEB (nebulin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | ATGCATGTGAATTTGAGCTGGTCTGCAGGCTGGCGATACTTCCTGTCACTCAGGATTTCTCCAGCTCTCTTCACTTTCTCGACCTCTACAGAGCCAATGGGAACCCATCCTATGCCTCTCAGCCACTCAAGATCAGATTTGTAAATAGCCTGAAAATGAAATAATGTCAAATATTTATAGATGTCACCTAGACGGCCTGGTGCCTGATCCTGATTTAACATACACAGATAATGTGTTAGTCTGAATCTTATTTGTGTAAATTTCTGGGAAGACCCACAGGATTGCTTTACTTTGGTTTAGAATGGCTAGTTAAATGCCTG... | ATGCATGTGAATTTGAGCTGGTCTGCAGGCTGGCGATACTTCCTGTCACTCAGGATTTCTCCAGCTCTCTTCACTTTCTCGACCTCTACAGAGCCAATGGGAACCCATCCTATGCCTCTCAGCCACTCAAGATCAGATTTGTAAATAGCCTGAAAATGAAATAATGTCAAATATTTATAGATGTCACCTAGACGGCCTGGTGCCTGATCCTGATTTAACATACACAGATAATGTGTTAGTCTGAATCTTATTTGTGTAAATTTCTGGGAAGACCCACAGGATTGCTTTACTTTGGTTTAGAATGGCTAGTTAAATGCCTG... | pathogenic | 43,815 |
Variant at chromosome position 151618326, chromosome 2, gene NEB (nebulin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | ACATGTTCCAAACATTGGGATTTTACTGACTTGTAAATTTCAACAAAAAAATGTGGGGAAAAAATCAACATTTGGTTGGCAAAATTTTATTTGCCAAACAAGCAGATGTAAAAAAAAAAATTATTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGTGGATCACCTGAGGTCATGAGTTTGAGAAGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCCACTAAAAATACAATAATTAACTGGGCATGGTAGCATGCACCTGCAATCCCAGTTACTCGGGAGGCTGAG... | ACATGTTCCAAACATTGGGATTTTACTGACTTGTAAATTTCAACAAAAAAATGTGGGGAAAAAATCAACATTTGGTTGGCAAAATTTTATTTGCCAAACAAGCAGATGTAAAAAAAAAAATTATTTACTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGTGGATCACCTGAGGTCATGAGTTTGAGAAGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCCACTAAAAATACAATAATTAACTGGGCATGGTAGCATGCACCTGCAATCCCAGTTACTCGGGAGGCTGAG... | pathogenic | 43,829 |
Regarding the variant at chromosome 2 and position 151620926, affecting gene NEB (nebulin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TCACAAAACTTCAAGTGTATAAAGGAAATGTGATGTTACAGAGATATGTTTGGTATTTCCTTAATTATTCATTTTATTTTACTCTCAATAGGACATGCTGAATGTTGATAAGTATTAGACGACTGGTTTCGAAAAACGTAAGAATGATAGAATTTTCCCATCAGTAAGTATAAAATGTAAATTAAAGTAATTTAGCATAATATGCTTTCCCTCTATCTCCCTACTGCCCTCTGCCAACAAACACACACATTTTTTTACTTCCTTAGCCAAAAGTTTGCAGTGATATATTTTTAAGGGCTAAGTTTCATCTGATTCAAACA... | TCACAAAACTTCAAGTGTATAAAGGAAATGTGATGTTACAGAGATATGTTTGGTATTTCCTTAATTATTCATTTTATTTTACTCTCAATAGGACATGCTGAATGTTGATAAGTATTAGACGACTGGTTTCGAAAAACGTAAGAATGATAGAATTTTCCCATCAGTAAGTATAAAATGTAAATTAAAGTAATTTAGCATAATATGCTTTCCCTCTATCTCCCTACTGCCCTCTGCCAACAAACACACACATTTTTTTACTTCCTTAGCCAAAAGTTTGCAGTGATATATTTTTAAGGGCTAAGTTTCATCTGATTCAAACA... | pathogenic | 43,841 |
Considering the variant on chromosome 2, location 151627722, involving gene NEB (nebulin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | CAGTTTGTTGTAAACAGGAGTTTTCAATTAAGACACCATGACAAAGTTGAGAGCCAGCTTTCTTGCTGTCTGTTCCATGTATGTTAATATTCTTTTCAACCTCTTTGATTTTACAAGACATTTATTGTAACAAAATATAAATGTATACTAAGATATGAAAAGAAAAATATATATATACATATAATCAAACACACACACACATATACACACCCACGTGTGTGTGTTTGGTAACCAGGTCACTCTCACCCCAATTAAATAAAAAGCAAGTATTTCTCAAGCATATATTCACATCCATATCTGTAGTATGACTATATTAACAA... | CAGTTTGTTGTAAACAGGAGTTTTCAATTAAGACACCATGACAAAGTTGAGAGCCAGCTTTCTTGCTGTCTGTTCCATGTATGTTAATATTCTTTTCAACCTCTTTGATTTTACAAGACATTTATTGTAACAAAATATAAATGTATACTAAGATATGAAAAGAAAAATATATATATACATATAATCAAACACACACACACATATACACACCCACGTGTGTGTGTTTGGTAACCAGGTCACTCTCACCCCAATTAAATAAAAAGCAAGTATTTCTCAAGCATATATTCACATCCATATCTGTAGTATGACTATATTAACAA... | pathogenic | 43,855 |
A genetic alteration at chromosome 2, position 151629643, in gene NEB (nebulin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | CAGGTAGTTCTTGTAGTCCACATCGCTGACTAAGGTCTGGCACTTCTTGGCTAACACCACTCCCAGCATGTCCACTGGGCTGCTGAACTTGGTCTTCCACTTCTCAAAGTCCTTCTTATACTCCCTGTCACTCTGGATCTTGGCCACATGCATGGACCACATCATCTTGGGGTCATCTTCAATGTTCCGGGCTCCAATGTGGTGGCCGAGCTGCTTGCGGTAACCATCTTTGTATTTGTACTGAAATAAAGGTGGTCATTTCAAAAATAAAAATGAATAGAAAGGCTTAGAAGCCTCATTAATTTAAAACTTTATTATTT... | CAGGTAGTTCTTGTAGTCCACATCGCTGACTAAGGTCTGGCACTTCTTGGCTAACACCACTCCCAGCATGTCCACTGGGCTGCTGAACTTGGTCTTCCACTTCTCAAAGTCCTTCTTATACTCCCTGTCACTCTGGATCTTGGCCACATGCATGGACCACATCATCTTGGGGTCATCTTCAATGTTCCGGGCTCCAATGTGGTGGCCGAGCTGCTTGCGGTAACCATCTTTGTATTTGTACTGAAATAAAGGTGGTCATTTCAAAAATAAAAATGAATAGAAAGGCTTAGAAGCCTCATTAATTTAAAACTTTATTATTT... | pathogenic | 43,859 |
Determine whether the variant at chromosome 2, position 151631295, in gene NEB (nebulin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | GAGATGAATTTCTCATAATTGTAGATATGAAAAATTATAGAATCACATCCAATTTTATACTGCATTGAAGTATACTGGTTTAGGTTACCCCCTTCCTACCTGGGACATAGATACTGAAGTCTTCCGAAGCTTAAAACATGAGTTTTTTCAAATGAAAAACTTTGAATTTGAATTTGATTTAGAAAAACAAGCCAATAAATGTGCTTAAACTGGCCCCCAAATGTTATAATAGTAATAATCCTGCCTCCCCACTTCATCCATCCATGTAAATATCTAGGGTGTTGCTACTCACATCACTGATAACGTCCCTGGAGGCCTTG... | GAGATGAATTTCTCATAATTGTAGATATGAAAAATTATAGAATCACATCCAATTTTATACTGCATTGAAGTATACTGGTTTAGGTTACCCCCTTCCTACCTGGGACATAGATACTGAAGTCTTCCGAAGCTTAAAACATGAGTTTTTTCAAATGAAAAACTTTGAATTTGAATTTGATTTAGAAAAACAAGCCAATAAATGTGCTTAAACTGGCCCCCAAATGTTATAATAGTAATAATCCTGCCTCCCCACTTCATCCATCCATGTAAATATCTAGGGTGTTGCTACTCACATCACTGATAACGTCCCTGGAGGCCTTG... | pathogenic | 43,873 |
Mutation at chromosome 2, position 151633783, within NEB (nebulin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | CCATTAAAAGCTTCACTGTTGAAGAATATTTATGACATGTAGAAATGTCATTAATACAATATGAAATTTTAAAGTAGCACATAAAACAATGTGGGTAGATAAATTACATGAATAAGAGTGGGTTTTTCTAGTGGTTGGATTGTTTTGGATTCTTATTCCCTGCGATGTATTCTTCTATACATTTCAAAATATCTGTAATGCCTTTAAAAACACAGTTAAAATATAACAGTGCTGTAGAACCCCTGAAGCCCTGAGATCTTCAACAGCTGTAACTCTGTCCAAGATTCAGGGCAATAAAATTTAATTATTTATTAAATGGA... | CCATTAAAAGCTTCACTGTTGAAGAATATTTATGACATGTAGAAATGTCATTAATACAATATGAAATTTTAAAGTAGCACATAAAACAATGTGGGTAGATAAATTACATGAATAAGAGTGGGTTTTTCTAGTGGTTGGATTGTTTTGGATTCTTATTCCCTGCGATGTATTCTTCTATACATTTCAAAATATCTGTAATGCCTTTAAAAACACAGTTAAAATATAACAGTGCTGTAGAACCCCTGAAGCCCTGAGATCTTCAACAGCTGTAACTCTGTCCAAGATTCAGGGCAATAAAATTTAATTATTTATTAAATGGA... | pathogenic | 43,885 |
Variant in gene NEB (nebulin), located at chromosome 2 position 151639389: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TGTGGAGGGGAAGCGGAGGGGTGTTGAAGGAAGTGGGTGAGGCCCCAGGGAGGAGTTCACAGGAGAGGGCTGAGAATAGCCCAGAGTTGGACTGTGAACGCCTCATTCTAAGAAGTTGGTGTTTAATTCTACAGAAAATAGGAAAGCAGCCAAAAAGTTCTCTTCTTTTTAACATCAGAGGGGAGCGCCCATGGCAGCGTCCCAGTCTGGGTGGGTGGAATAGGGGGTTGCGGGCAAAATGGGGAAGGGCACCTGGGCCTCCTGGGACTGGCAGCCGAGTAGCCGCACTAACACATCTCTGAGCTTTTTCAGCAAAGACA... | TGTGGAGGGGAAGCGGAGGGGTGTTGAAGGAAGTGGGTGAGGCCCCAGGGAGGAGTTCACAGGAGAGGGCTGAGAATAGCCCAGAGTTGGACTGTGAACGCCTCATTCTAAGAAGTTGGTGTTTAATTCTACAGAAAATAGGAAAGCAGCCAAAAAGTTCTCTTCTTTTTAACATCAGAGGGGAGCGCCCATGGCAGCGTCCCAGTCTGGGTGGGTGGAATAGGGGGTTGCGGGCAAAATGGGGAAGGGCACCTGGGCCTCCTGGGACTGGCAGCCGAGTAGCCGCACTAACACATCTCTGAGCTTTTTCAGCAAAGACA... | benign | 43,896 |
Determine if the mutation at chromosome 2, position 151639885 in gene NEB (nebulin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Nemaline_myopathy_2'] | CAATTAAAAGCTAGCTATACAAGCACTAAAATTACAGTCTCACTTCCAAAATAATTACTTAAGATGGTGGCAATTCCATCTAAATTCTCTAAATTATGCTCTGTGTGTTGATTTATGCTGCCAAATAAACAATATTTTCCTTGCTGGTGGCACAAAGCCAGGTGAAATAACTAACACATCAGCTGACAGAATCTTAGATTCACAAAAATCTCCACAGGCTTATACCCACAGGCTCAGTCTAAGAAGAAGAAATTACAGAGATAAATGCCAATCTTTGAACAGAGATAAATTACCAAACGCATAAATGCAGGATGGAAGAA... | CAATTAAAAGCTAGCTATACAAGCACTAAAATTACAGTCTCACTTCCAAAATAATTACTTAAGATGGTGGCAATTCCATCTAAATTCTCTAAATTATGCTCTGTGTGTTGATTTATGCTGCCAAATAAACAATATTTTCCTTGCTGGTGGCACAAAGCCAGGTGAAATAACTAACACATCAGCTGACAGAATCTTAGATTCACAAAAATCTCCACAGGCTTATACCCACAGGCTCAGTCTAAGAAGAAGAAATTACAGAGATAAATGCCAATCTTTGAACAGAGATAAATTACCAAACGCATAAATGCAGGATGGAAGAA... | pathogenic | 43,898 |
The mutation in gene NEB (nebulin) at chromosome 2, position 151640493—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | GGAGGCACCCTGGTGCTGCTCTCCATCTCTGGGGGTTGGCACAGATTTGTTCTGTGCAGCTTCAGAGGACTATGTGAGTTTACAGAGAGAAATGTTGTGACTCAATACATCAGAAGCTTTCTCATAAATTTTCCAGAACGAATGGACTGATTTATGAGATCAGCTCCTTGTCACTGGGAACCCTTAAGCAAAGGCAGGTCAAAAACCTATTTGTGGGGAGGGGTACCTTTGCACTAGGGTGGAGGCTTGACTCTCTGCCTAAGCCTCTATGATTCTGGAATGATGGCACGTGGCCCTGTGCACACTGAAAGTGAAAGGAA... | GGAGGCACCCTGGTGCTGCTCTCCATCTCTGGGGGTTGGCACAGATTTGTTCTGTGCAGCTTCAGAGGACTATGTGAGTTTACAGAGAGAAATGTTGTGACTCAATACATCAGAAGCTTTCTCATAAATTTTCCAGAACGAATGGACTGATTTATGAGATCAGCTCCTTGTCACTGGGAACCCTTAAGCAAAGGCAGGTCAAAAACCTATTTGTGGGGAGGGGTACCTTTGCACTAGGGTGGAGGCTTGACTCTCTGCCTAAGCCTCTATGATTCTGGAATGATGGCACGTGGCCCTGTGCACACTGAAAGTGAAAGGAA... | pathogenic | 43,907 |
Located at chromosome 2 position 151640644, the variant affecting gene NEB (nebulin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | TTATGAGATCAGCTCCTTGTCACTGGGAACCCTTAAGCAAAGGCAGGTCAAAAACCTATTTGTGGGGAGGGGTACCTTTGCACTAGGGTGGAGGCTTGACTCTCTGCCTAAGCCTCTATGATTCTGGAATGATGGCACGTGGCCCTGTGCACACTGAAAGTGAAAGGAAATGGGCTTGCTAATATTTACACTGACAGATATTTCTCTCTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTTACCTGGTAGTACTGTGGATTTTAGTTCTTGCCTTTAATCTTATATACTAAAAATCTTAAATTTGGATCCTAA... | TTATGAGATCAGCTCCTTGTCACTGGGAACCCTTAAGCAAAGGCAGGTCAAAAACCTATTTGTGGGGAGGGGTACCTTTGCACTAGGGTGGAGGCTTGACTCTCTGCCTAAGCCTCTATGATTCTGGAATGATGGCACGTGGCCCTGTGCACACTGAAAGTGAAAGGAAATGGGCTTGCTAATATTTACACTGACAGATATTTCTCTCTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTTACCTGGTAGTACTGTGGATTTTAGTTCTTGCCTTTAATCTTATATACTAAAAATCTTAAATTTGGATCCTAA... | pathogenic | 43,911 |
The genetic variant at chromosome 2, position 151643268, affecting gene NEB (nebulin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | TATAATTAGAAGTCATATTGTATATGGGTTTGTGCCTGCTCTTTTCAGTTATTATATAAGCATTTCTATGTGTCATTAAATAGTCTTTGCACACATGACTGTTTTTTTTGTTTTGTTTTGTTTTGTATTTTAGAAAGCATCTCTCTCTGTTGCCCAGGTTGGAGTGCAGTGGTACAATCATGTCTCACTGCAACCTCCAACTCTTGGGCTGAAGTGATCCTCCCACCTCAGCTTCTGAGTAGCTAGCACTACAGGCATGCGCCATCACACCTGGCTAATTTTTAAGTTTTTTGTAGAGATAGTGCCTTGCTATGTTGACC... | TATAATTAGAAGTCATATTGTATATGGGTTTGTGCCTGCTCTTTTCAGTTATTATATAAGCATTTCTATGTGTCATTAAATAGTCTTTGCACACATGACTGTTTTTTTTGTTTTGTTTTGTTTTGTATTTTAGAAAGCATCTCTCTCTGTTGCCCAGGTTGGAGTGCAGTGGTACAATCATGTCTCACTGCAACCTCCAACTCTTGGGCTGAAGTGATCCTCCCACCTCAGCTTCTGAGTAGCTAGCACTACAGGCATGCGCCATCACACCTGGCTAATTTTTAAGTTTTTTGTAGAGATAGTGCCTTGCTATGTTGACC... | pathogenic | 43,924 |
Variant in NEB (nebulin), chromosome 2, position 151643873—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATATATGTGCCATGTTGGTGTGCTGCACCCATTAACTGATCATTTACGTTAGGTATATCTCCTAATGCTATCCCTCCTCCCTCCCCCCATCCTATGACAGGCCCCAGTGTGTGATGTTCCCCACCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCAGTGTTTGATTTTCTGTCCTTGTGACAGTGAGCAAATCCATCTTTTAAAGAAAGCAAATATTTGTAACCCACCACCTGATATAGA... | TTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATATATGTGCCATGTTGGTGTGCTGCACCCATTAACTGATCATTTACGTTAGGTATATCTCCTAATGCTATCCCTCCTCCCTCCCCCCATCCTATGACAGGCCCCAGTGTGTGATGTTCCCCACCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCAGTGTTTGATTTTCTGTCCTTGTGACAGTGAGCAAATCCATCTTTTAAAGAAAGCAAATATTTGTAACCCACCACCTGATATAGA... | pathogenic | 43,928 |
A genetic alteration at chromosome 2, position 151644553, in gene NEB (nebulin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | ATAAATCCAGGAGAGAGAAATAAATCTTTGAGCCAAAGCTAAGGCAAATAACTTTCCAAGTATACTTACTTCACTTGCAATATCTCTGGAGGCCTTGGCTGCCTTGATAGGAATGGCATCTACCCGCATGTCATAACCTTTCCTCTTGGCTTCTTCTAGGCCAAGCTTATACAATTTCTAAAATAGACATTAATAGTAAGTTGGATTTATAAAGTGCATTGTAAGGAAAATGTATCACGCACTATGAATATATTACTTACCTCACTGTAATTTACTTTGTTTTGTTTAGCTAATAAAACTTCAGGGGTATCTGGCATAAT... | ATAAATCCAGGAGAGAGAAATAAATCTTTGAGCCAAAGCTAAGGCAAATAACTTTCCAAGTATACTTACTTCACTTGCAATATCTCTGGAGGCCTTGGCTGCCTTGATAGGAATGGCATCTACCCGCATGTCATAACCTTTCCTCTTGGCTTCTTCTAGGCCAAGCTTATACAATTTCTAAAATAGACATTAATAGTAAGTTGGATTTATAAAGTGCATTGTAAGGAAAATGTATCACGCACTATGAATATATTACTTACCTCACTGTAATTTACTTTGTTTTGTTTAGCTAATAAAACTTCAGGGGTATCTGGCATAAT... | pathogenic | 43,935 |
Is the chromosome 2, position 151644568 variant in NEB (nebulin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | AGAAATAAATCTTTGAGCCAAAGCTAAGGCAAATAACTTTCCAAGTATACTTACTTCACTTGCAATATCTCTGGAGGCCTTGGCTGCCTTGATAGGAATGGCATCTACCCGCATGTCATAACCTTTCCTCTTGGCTTCTTCTAGGCCAAGCTTATACAATTTCTAAAATAGACATTAATAGTAAGTTGGATTTATAAAGTGCATTGTAAGGAAAATGTATCACGCACTATGAATATATTACTTACCTCACTGTAATTTACTTTGTTTTGTTTAGCTAATAAAACTTCAGGGGTATCTGGCATAATGTGGACAGTGGTTTT... | AGAAATAAATCTTTGAGCCAAAGCTAAGGCAAATAACTTTCCAAGTATACTTACTTCACTTGCAATATCTCTGGAGGCCTTGGCTGCCTTGATAGGAATGGCATCTACCCGCATGTCATAACCTTTCCTCTTGGCTTCTTCTAGGCCAAGCTTATACAATTTCTAAAATAGACATTAATAGTAAGTTGGATTTATAAAGTGCATTGTAAGGAAAATGTATCACGCACTATGAATATATTACTTACCTCACTGTAATTTACTTTGTTTTGTTTAGCTAATAAAACTTCAGGGGTATCTGGCATAATGTGGACAGTGGTTTT... | pathogenic | 43,937 |
Variant at chromosome 2, position 151646139, gene NEB (nebulin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'NEB-related_disorder', 'Nemaline_myopathy_2'] | GTGGCCGAGCTGCTTGCGAAAGCCTTCCTTGTACTTGTACTAGAGAAAAAAAATGTGTCTCATTCCTTTCAAAATTTACTTCTGTTGCCATCTTTGTGGCAAATTACAAAGCGCATTAACTCTAAATATTTTACTAAGCCTAGAGAGCCAAAGACTTCAGTCTTTTGATAAGAAAGATTAAAGGCTAAATTCAGCTATGAAATTCCATACATAATAAATGCATCCTTGATCTTATCCTCATCCCACACTGCATGGGATCATTTTATTCCACTGTAATTTGTTACCCCTTAGATTTTGTTCAATTTAAAATTAAATTGAGA... | GTGGCCGAGCTGCTTGCGAAAGCCTTCCTTGTACTTGTACTAGAGAAAAAAAATGTGTCTCATTCCTTTCAAAATTTACTTCTGTTGCCATCTTTGTGGCAAATTACAAAGCGCATTAACTCTAAATATTTTACTAAGCCTAGAGAGCCAAAGACTTCAGTCTTTTGATAAGAAAGATTAAAGGCTAAATTCAGCTATGAAATTCCATACATAATAAATGCATCCTTGATCTTATCCTCATCCCACACTGCATGGGATCATTTTATTCCACTGTAATTTGTTACCCCTTAGATTTTGTTCAATTTAAAATTAAATTGAGA... | pathogenic | 43,938 |
Variant in gene NEB (nebulin), located at chromosome 2 position 151646145: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6'] | GAGCTGCTTGCGAAAGCCTTCCTTGTACTTGTACTAGAGAAAAAAAATGTGTCTCATTCCTTTCAAAATTTACTTCTGTTGCCATCTTTGTGGCAAATTACAAAGCGCATTAACTCTAAATATTTTACTAAGCCTAGAGAGCCAAAGACTTCAGTCTTTTGATAAGAAAGATTAAAGGCTAAATTCAGCTATGAAATTCCATACATAATAAATGCATCCTTGATCTTATCCTCATCCCACACTGCATGGGATCATTTTATTCCACTGTAATTTGTTACCCCTTAGATTTTGTTCAATTTAAAATTAAATTGAGACTGCTT... | GAGCTGCTTGCGAAAGCCTTCCTTGTACTTGTACTAGAGAAAAAAAATGTGTCTCATTCCTTTCAAAATTTACTTCTGTTGCCATCTTTGTGGCAAATTACAAAGCGCATTAACTCTAAATATTTTACTAAGCCTAGAGAGCCAAAGACTTCAGTCTTTTGATAAGAAAGATTAAAGGCTAAATTCAGCTATGAAATTCCATACATAATAAATGCATCCTTGATCTTATCCTCATCCCACACTGCATGGGATCATTTTATTCCACTGTAATTTGTTACCCCTTAGATTTTGTTCAATTTAAAATTAAATTGAGACTGCTT... | pathogenic | 43,939 |
The mutation in gene NEB (nebulin) at chromosome 2, position 151650807—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TGCTTCTGGTTGAAAGTCACTAAGTTAGATTATTTCTTCAATGGCATGTGCCACTTTCACCCCATGGAATGCAGAGAAAATGCTATTATTATTTACACTGGGATAGGTGTATCAGTTGATTCAGAAGGAGAGACTGCAAGCTCAAGGACCCCAGCTGGCCCGGGTTTTGTGTGGCAGTCCTGAGGCCTGAGAGCTCCATGTTTCAGCATTCCCCAAACTAGAGCACACTGCTGGGGAGTCCTGTCCCAGAACGTGTATATCGATAAACTTAATGATCTAGGGGTTCTCATTTGGTCACCTTATTAAGTTCAGATCTTTTT... | TGCTTCTGGTTGAAAGTCACTAAGTTAGATTATTTCTTCAATGGCATGTGCCACTTTCACCCCATGGAATGCAGAGAAAATGCTATTATTATTTACACTGGGATAGGTGTATCAGTTGATTCAGAAGGAGAGACTGCAAGCTCAAGGACCCCAGCTGGCCCGGGTTTTGTGTGGCAGTCCTGAGGCCTGAGAGCTCCATGTTTCAGCATTCCCCAAACTAGAGCACACTGCTGGGGAGTCCTGTCCCAGAACGTGTATATCGATAAACTTAATGATCTAGGGGTTCTCATTTGGTCACCTTATTAAGTTCAGATCTTTTT... | pathogenic | 43,949 |
Is the chromosome 2, position 151650846 variant in NEB (nebulin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | AATGGCATGTGCCACTTTCACCCCATGGAATGCAGAGAAAATGCTATTATTATTTACACTGGGATAGGTGTATCAGTTGATTCAGAAGGAGAGACTGCAAGCTCAAGGACCCCAGCTGGCCCGGGTTTTGTGTGGCAGTCCTGAGGCCTGAGAGCTCCATGTTTCAGCATTCCCCAAACTAGAGCACACTGCTGGGGAGTCCTGTCCCAGAACGTGTATATCGATAAACTTAATGATCTAGGGGTTCTCATTTGGTCACCTTATTAAGTTCAGATCTTTTTATCTCCTGTTTCATGGAAAGAAAAGAAACTTGGATTCCA... | AATGGCATGTGCCACTTTCACCCCATGGAATGCAGAGAAAATGCTATTATTATTTACACTGGGATAGGTGTATCAGTTGATTCAGAAGGAGAGACTGCAAGCTCAAGGACCCCAGCTGGCCCGGGTTTTGTGTGGCAGTCCTGAGGCCTGAGAGCTCCATGTTTCAGCATTCCCCAAACTAGAGCACACTGCTGGGGAGTCCTGTCCCAGAACGTGTATATCGATAAACTTAATGATCTAGGGGTTCTCATTTGGTCACCTTATTAAGTTCAGATCTTTTTATCTCCTGTTTCATGGAAAGAAAAGAAACTTGGATTCCA... | pathogenic | 43,950 |
Evaluate this variant at chromosome 2, position 151654082, gene NEB (nebulin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | AGGAGGGCAAATATGAAAATGTTTGAAGACCTATCAAGTGGAAGTGGAAATAGGCTGCTTTGTGGTGTTGTAGAACAGAGATCTAGAGCTTATTGGTAAAATATTTAGGCAAAAATAAGAAGGTATATAATGGCAATTAGAAATGATCTAACAAAGAAATGACCTGCCCTGAAGGACTCCAAAATTCCTTTAAAGAATTTTTTTATTTTTGAGATACCGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTAAAGCCTCAGCCTTCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAG... | AGGAGGGCAAATATGAAAATGTTTGAAGACCTATCAAGTGGAAGTGGAAATAGGCTGCTTTGTGGTGTTGTAGAACAGAGATCTAGAGCTTATTGGTAAAATATTTAGGCAAAAATAAGAAGGTATATAATGGCAATTAGAAATGATCTAACAAAGAAATGACCTGCCCTGAAGGACTCCAAAATTCCTTTAAAGAATTTTTTTATTTTTGAGATACCGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTAAAGCCTCAGCCTTCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAG... | pathogenic | 43,953 |
Evaluate this variant at chromosome 2, position 151654092, gene NEB (nebulin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | ATATGAAAATGTTTGAAGACCTATCAAGTGGAAGTGGAAATAGGCTGCTTTGTGGTGTTGTAGAACAGAGATCTAGAGCTTATTGGTAAAATATTTAGGCAAAAATAAGAAGGTATATAATGGCAATTAGAAATGATCTAACAAAGAAATGACCTGCCCTGAAGGACTCCAAAATTCCTTTAAAGAATTTTTTTATTTTTGAGATACCGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTAAAGCCTCAGCCTTCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGAGAC... | ATATGAAAATGTTTGAAGACCTATCAAGTGGAAGTGGAAATAGGCTGCTTTGTGGTGTTGTAGAACAGAGATCTAGAGCTTATTGGTAAAATATTTAGGCAAAAATAAGAAGGTATATAATGGCAATTAGAAATGATCTAACAAAGAAATGACCTGCCCTGAAGGACTCCAAAATTCCTTTAAAGAATTTTTTTATTTTTGAGATACCGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTAAAGCCTCAGCCTTCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGAGAC... | pathogenic | 43,954 |
Does the chromosome 2 mutation at position 151655956 within gene NEB (nebulin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | GACTATCCATAAAAATAGTTACCGACATTAAGTCACCTGATTCAGATAAAAATATAGCCTTATAGAACTCAAACTAGTACTCACATCACTAGCAATGTCTCTTGAAGCTTTAGCTAGCTGTACAGAAATTGCATCAACTGGGAGATCATAGCCTTTCTTCAAAGCTTCTTCCCATCCAAGTTTATAGAGTTTCTGAAAATTAAAGATATTCTTCAGCATTATTCTGTCTATATAAAGAATATCAATAGATTATTAGGGAAAAGTTTACCTACAGAGTGAATATCAGATCGAACATCATCTACCCTATCTTTAAAGATATG... | GACTATCCATAAAAATAGTTACCGACATTAAGTCACCTGATTCAGATAAAAATATAGCCTTATAGAACTCAAACTAGTACTCACATCACTAGCAATGTCTCTTGAAGCTTTAGCTAGCTGTACAGAAATTGCATCAACTGGGAGATCATAGCCTTTCTTCAAAGCTTCTTCCCATCCAAGTTTATAGAGTTTCTGAAAATTAAAGATATTCTTCAGCATTATTCTGTCTATATAAAGAATATCAATAGATTATTAGGGAAAAGTTTACCTACAGAGTGAATATCAGATCGAACATCATCTACCCTATCTTTAAAGATATG... | pathogenic | 43,960 |
Clinical classification of chromosome 2, position 151658087, gene NEB (nebulin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | GCAAATTCTACTTTATCTTATCCATTTAGACACAAACCATGGCATGTAAACAGACTGTGATCTCCCTTCCCATGCTAGGATTCCAACCATCACCCAAGTAGAAGAAAGCCTTACATCACTCTGTATGCGATTCATATTCCTGGTCAGCTCAATGTTCATTGCATCTGGAAGGAGGATGTACTTGTGAATCAGGTGCTTGTAGTTAGTGTTGGTGATGTTGGCTTGGGCATCCTTTGCAGCCGTGACACTGAGCATGTCGGCAGGGGTGTGGTAGCTGGTCTTTGTGTTCTCATAGTTTTTCTTGTACTCCCGATCAGATT... | GCAAATTCTACTTTATCTTATCCATTTAGACACAAACCATGGCATGTAAACAGACTGTGATCTCCCTTCCCATGCTAGGATTCCAACCATCACCCAAGTAGAAGAAAGCCTTACATCACTCTGTATGCGATTCATATTCCTGGTCAGCTCAATGTTCATTGCATCTGGAAGGAGGATGTACTTGTGAATCAGGTGCTTGTAGTTAGTGTTGGTGATGTTGGCTTGGGCATCCTTTGCAGCCGTGACACTGAGCATGTCGGCAGGGGTGTGGTAGCTGGTCTTTGTGTTCTCATAGTTTTTCTTGTACTCCCGATCAGATT... | pathogenic | 43,974 |
Is the variant located on chromosome 2 at position 151663588, gene NEB (nebulin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | CAAAAACAGATGTTCAAGGTTGATTGTACTTGTTGGTCTTGATCTCTTATTGCAAATCAATGTAAAAATAGAGTAAGTCTTTTCTAAAAGCTGGAATAATTCATGAACCAAGGAAACACTGATGTAGAACAACTGCCCTCAAGATTACCCAGAGAACGTCCTGGTTTGAAATGCTGCTACAGGCATGTAATCTTGGACTTTTCTTTGATCCCATCAAAGCAGAAAGCAAGCTGGGGTTTGGGAGGTGGTTTCCAACACCAGCTACCATCAGGAAATCTGCTGATTCAGTGTCATGAATGTCTATTCAACCTCACCTTAGA... | CAAAAACAGATGTTCAAGGTTGATTGTACTTGTTGGTCTTGATCTCTTATTGCAAATCAATGTAAAAATAGAGTAAGTCTTTTCTAAAAGCTGGAATAATTCATGAACCAAGGAAACACTGATGTAGAACAACTGCCCTCAAGATTACCCAGAGAACGTCCTGGTTTGAAATGCTGCTACAGGCATGTAATCTTGGACTTTTCTTTGATCCCATCAAAGCAGAAAGCAAGCTGGGGTTTGGGAGGTGGTTTCCAACACCAGCTACCATCAGGAAATCTGCTGATTCAGTGTCATGAATGTCTATTCAACCTCACCTTAGA... | pathogenic | 43,989 |
Does the chromosome 2 mutation at position 151663783 within gene NEB (nebulin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | GACTTTTCTTTGATCCCATCAAAGCAGAAAGCAAGCTGGGGTTTGGGAGGTGGTTTCCAACACCAGCTACCATCAGGAAATCTGCTGATTCAGTGTCATGAATGTCTATTCAACCTCACCTTAGACAAACAGGACTCATTTTCAAGAGGTGCAGTAAAAGAAAAAGTCCCTATTTATTTGGTTATGTCAATGAGATAGGATGGTTCATTGAAGATTTGAAGACTACTAGTTAGAAATAATTCCTATTCTTTTTTTTTTTAACGACAAGACTCTTTTTCTAGGTAAAATAACCTCAAGTGTGATGCCCTATAACTGTATTA... | GACTTTTCTTTGATCCCATCAAAGCAGAAAGCAAGCTGGGGTTTGGGAGGTGGTTTCCAACACCAGCTACCATCAGGAAATCTGCTGATTCAGTGTCATGAATGTCTATTCAACCTCACCTTAGACAAACAGGACTCATTTTCAAGAGGTGCAGTAAAAGAAAAAGTCCCTATTTATTTGGTTATGTCAATGAGATAGGATGGTTCATTGAAGATTTGAAGACTACTAGTTAGAAATAATTCCTATTCTTTTTTTTTTTAACGACAAGACTCTTTTTCTAGGTAAAATAACCTCAAGTGTGATGCCCTATAACTGTATTA... | pathogenic | 43,997 |
Variant in gene NEB (nebulin), located at chromosome 2 position 151664489: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Nemaline_myopathy_2'] | TTTTCTGTAACTTTTCCACTTCAATATTTGCTTGAATATTGGTATTTAACCAATAGCATGTTGAACTTCAACCATTTCTTCCCTAAACTTTTATCCTTTTTATATTTCCTTGCATGATAAATTAAAAATAAGCAGAAATGTCTTTGTGACTTGTTTTTCTCAATGCCTTCATAAAGAAAAAGTACTAAGAAATACCACATAGATTCATCTCCCAGGTGACTGTTATCTCCTTGAGAAAAGCAACTATGCTGACCTTTCTTATAAAAATTCCCAAGTCCCCTTGGTTAACAGATGACTATGGAAACCCCATTTTTCTCTTT... | TTTTCTGTAACTTTTCCACTTCAATATTTGCTTGAATATTGGTATTTAACCAATAGCATGTTGAACTTCAACCATTTCTTCCCTAAACTTTTATCCTTTTTATATTTCCTTGCATGATAAATTAAAAATAAGCAGAAATGTCTTTGTGACTTGTTTTTCTCAATGCCTTCATAAAGAAAAAGTACTAAGAAATACCACATAGATTCATCTCCCAGGTGACTGTTATCTCCTTGAGAAAAGCAACTATGCTGACCTTTCTTATAAAAATTCCCAAGTCCCCTTGGTTAACAGATGACTATGGAAACCCCATTTTTCTCTTT... | pathogenic | 43,999 |
A genetic variant at chromosome 2, position 151664601, affecting gene NEB (nebulin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | CATGATAAATTAAAAATAAGCAGAAATGTCTTTGTGACTTGTTTTTCTCAATGCCTTCATAAAGAAAAAGTACTAAGAAATACCACATAGATTCATCTCCCAGGTGACTGTTATCTCCTTGAGAAAAGCAACTATGCTGACCTTTCTTATAAAAATTCCCAAGTCCCCTTGGTTAACAGATGACTATGGAAACCCCATTTTTCTCTTTCACTGTCTTTGATCAACCACCACCATTACAATTCCCTCAGGTATGCCAGAAACCTTCCTGGTACTTTGTGTAAATTTCATTTTTTCCTCCTCAGCTTTGACATTTCTCTCTA... | CATGATAAATTAAAAATAAGCAGAAATGTCTTTGTGACTTGTTTTTCTCAATGCCTTCATAAAGAAAAAGTACTAAGAAATACCACATAGATTCATCTCCCAGGTGACTGTTATCTCCTTGAGAAAAGCAACTATGCTGACCTTTCTTATAAAAATTCCCAAGTCCCCTTGGTTAACAGATGACTATGGAAACCCCATTTTTCTCTTTCACTGTCTTTGATCAACCACCACCATTACAATTCCCTCAGGTATGCCAGAAACCTTCCTGGTACTTTGTGTAAATTTCATTTTTTCCTCCTCAGCTTTGACATTTCTCTCTA... | pathogenic | 44,003 |
Variant on chromosome 2, at position 151665341, affecting NEB (nebulin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | AAGTTCCATTTGCTGTTGTGGAATTCAGAATCCAACAATGCTCCCAGCAACAATAGTAGAAAACAAGACTTTAGTTTCTAGAATTGATCTCCTTTTGTTAAAGGACATGAATTCAATCTAAGGTAACAAATGAAACACTATGTTGGGAAATTGCAGATGAATTTCTTTCAGGATTTTCAAAACGTCATTGCTTATGGTCACTCATGGTTGCTTATTATCCAGAGTAAACGCTCTGCAAATGTGGTTTTCACGTACATCACTTTGAATCTGCATCATATTTTTGGCCAATTCAAAGCTCATGGCATCAGGAAGCATGTTGT... | AAGTTCCATTTGCTGTTGTGGAATTCAGAATCCAACAATGCTCCCAGCAACAATAGTAGAAAACAAGACTTTAGTTTCTAGAATTGATCTCCTTTTGTTAAAGGACATGAATTCAATCTAAGGTAACAAATGAAACACTATGTTGGGAAATTGCAGATGAATTTCTTTCAGGATTTTCAAAACGTCATTGCTTATGGTCACTCATGGTTGCTTATTATCCAGAGTAAACGCTCTGCAAATGTGGTTTTCACGTACATCACTTTGAATCTGCATCATATTTTTGGCCAATTCAAAGCTCATGGCATCAGGAAGCATGTTGT... | pathogenic | 44,008 |
Is the variant located on chromosome 2 at position 151665431, gene NEB (nebulin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | CCTTTTGTTAAAGGACATGAATTCAATCTAAGGTAACAAATGAAACACTATGTTGGGAAATTGCAGATGAATTTCTTTCAGGATTTTCAAAACGTCATTGCTTATGGTCACTCATGGTTGCTTATTATCCAGAGTAAACGCTCTGCAAATGTGGTTTTCACGTACATCACTTTGAATCTGCATCATATTTTTGGCCAATTCAAAGCTCATGGCATCAGGAAGCATGTTGTAGGTATGGATCACGTTCCTGTAGTTGGCATTGGTGGCCACTTCCTGAGACTTCTTGGCTGCCACCACACTGAGCATGTCCACCGGGGTGT... | CCTTTTGTTAAAGGACATGAATTCAATCTAAGGTAACAAATGAAACACTATGTTGGGAAATTGCAGATGAATTTCTTTCAGGATTTTCAAAACGTCATTGCTTATGGTCACTCATGGTTGCTTATTATCCAGAGTAAACGCTCTGCAAATGTGGTTTTCACGTACATCACTTTGAATCTGCATCATATTTTTGGCCAATTCAAAGCTCATGGCATCAGGAAGCATGTTGTAGGTATGGATCACGTTCCTGTAGTTGGCATTGGTGGCCACTTCCTGAGACTTCTTGGCTGCCACCACACTGAGCATGTCCACCGGGGTGT... | pathogenic | 44,011 |
Variant in NEB (nebulin), chromosome 2, position 151665539—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | CACTCATGGTTGCTTATTATCCAGAGTAAACGCTCTGCAAATGTGGTTTTCACGTACATCACTTTGAATCTGCATCATATTTTTGGCCAATTCAAAGCTCATGGCATCAGGAAGCATGTTGTAGGTATGGATCACGTTCCTGTAGTTGGCATTGGTGGCCACTTCCTGAGACTTCTTGGCTGCCACCACACTGAGCATGTCCACCGGGGTGTGGAAGGAGGTCTTGGATTTCTCATATCCCTTCTTGTATTCCCGGTCTGACTGCATCTTGGCCACTTGCATGAAGTGCACCAGCTTGGGGTCATCTTCCAGGCTCCGGA... | CACTCATGGTTGCTTATTATCCAGAGTAAACGCTCTGCAAATGTGGTTTTCACGTACATCACTTTGAATCTGCATCATATTTTTGGCCAATTCAAAGCTCATGGCATCAGGAAGCATGTTGTAGGTATGGATCACGTTCCTGTAGTTGGCATTGGTGGCCACTTCCTGAGACTTCTTGGCTGCCACCACACTGAGCATGTCCACCGGGGTGTGGAAGGAGGTCTTGGATTTCTCATATCCCTTCTTGTATTCCCGGTCTGACTGCATCTTGGCCACTTGCATGAAGTGCACCAGCTTGGGGTCATCTTCCAGGCTCCGGA... | pathogenic | 44,014 |
Regarding the variant at chromosome 2 and position 151665551, affecting gene NEB (nebulin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CTTATTATCCAGAGTAAACGCTCTGCAAATGTGGTTTTCACGTACATCACTTTGAATCTGCATCATATTTTTGGCCAATTCAAAGCTCATGGCATCAGGAAGCATGTTGTAGGTATGGATCACGTTCCTGTAGTTGGCATTGGTGGCCACTTCCTGAGACTTCTTGGCTGCCACCACACTGAGCATGTCCACCGGGGTGTGGAAGGAGGTCTTGGATTTCTCATATCCCTTCTTGTATTCCCGGTCTGACTGCATCTTGGCCACTTGCATGAAGTGCACCAGCTTGGGGTCATCTTCCAGGCTCCGGAAGCCAATGTGTT... | CTTATTATCCAGAGTAAACGCTCTGCAAATGTGGTTTTCACGTACATCACTTTGAATCTGCATCATATTTTTGGCCAATTCAAAGCTCATGGCATCAGGAAGCATGTTGTAGGTATGGATCACGTTCCTGTAGTTGGCATTGGTGGCCACTTCCTGAGACTTCTTGGCTGCCACCACACTGAGCATGTCCACCGGGGTGTGGAAGGAGGTCTTGGATTTCTCATATCCCTTCTTGTATTCCCGGTCTGACTGCATCTTGGCCACTTGCATGAAGTGCACCAGCTTGGGGTCATCTTCCAGGCTCCGGAAGCCAATGTGTT... | benign | 44,015 |
A genetic variant at chromosome 2, position 151667899, affecting gene NEB (nebulin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TCATAGACAACATCATATGTTTGGGTCTAATACCAACATTTTAAATATATTTGTATGCATATATATAAAATTAACAACAAAGCCACCTATAGTTCAAATGAGTGAAATCCTAAAACTCTGAGTTCTGGAGGGAATCCTTAATTACAGTGAGTGCAGCCAGGTGTGGGATGGAGTAAGTGGCTCCTGTTTTTTCCTCCCACCCATTAGAAATGGATAACAACTTGGTAACCAGTACATACATCACTCTGAATCTGCATGGCATTCCTGGAGTGCTCCACATTCAAGGCATCGGGCAGGAGAGTGTAGTGGTGGTATGACTG... | TCATAGACAACATCATATGTTTGGGTCTAATACCAACATTTTAAATATATTTGTATGCATATATATAAAATTAACAACAAAGCCACCTATAGTTCAAATGAGTGAAATCCTAAAACTCTGAGTTCTGGAGGGAATCCTTAATTACAGTGAGTGCAGCCAGGTGTGGGATGGAGTAAGTGGCTCCTGTTTTTTCCTCCCACCCATTAGAAATGGATAACAACTTGGTAACCAGTACATACATCACTCTGAATCTGCATGGCATTCCTGGAGTGCTCCACATTCAAGGCATCGGGCAGGAGAGTGTAGTGGTGGTATGACTG... | pathogenic | 44,025 |
Variant in NEB (nebulin), chromosome 2, position 151672644—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | GCCTCTCAGAACATGGAGCTATTATGCGAGGGGATTAGGACATTATGCCTCTTCCCTATGTGGCTAGGTAGAAATATTGCAACCAAGAGCAATAAATAGCTTGTTTTGCAATTCATACAGAGCCACAGATAATGATAGTAATAATGTTATTTCATATGTATAATGCGTATCTGCTTATGAATAGCACAGGCTCTCTACATTTGGAAAACAAAGCAAATTTGGAATAGTCCCCCATTTTCATCTCCCTGTTTTTCCCATGTTCAAGATCCCAGTTGCCTCAAAAGGCAGCCCTTTCTCTCATACCTATGAAAGCAGTTTAT... | GCCTCTCAGAACATGGAGCTATTATGCGAGGGGATTAGGACATTATGCCTCTTCCCTATGTGGCTAGGTAGAAATATTGCAACCAAGAGCAATAAATAGCTTGTTTTGCAATTCATACAGAGCCACAGATAATGATAGTAATAATGTTATTTCATATGTATAATGCGTATCTGCTTATGAATAGCACAGGCTCTCTACATTTGGAAAACAAAGCAAATTTGGAATAGTCCCCCATTTTCATCTCCCTGTTTTTCCCATGTTCAAGATCCCAGTTGCCTCAAAAGGCAGCCCTTTCTCTCATACCTATGAAAGCAGTTTAT... | pathogenic | 44,042 |
Considering the genetic mutation at chromosome 2, position 151674475, impacting NEB (nebulin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | TATGTGTAATGATGCAATGGCTGTTTGTAGTTGACATTGGTAGCGACATCCTGGGCCATCTTTGCAGCTGTGATGCTAACCATGTCCCCAGGGGTATGGTAGCTGGTTTTGGTGTTCTCATAGTTCTTCTTGTATTCACGATCAGACTGCAGCTTTGCCACATTCATATAGTGGACCAGCTTGGGATCATCCTGGAGGCTTCTGAAACCCACATGCTTTCCCTTTGACTTCTCATAAGCTTCCTTGTATTTATACTGTGGAGGCAGAATTGGGTTAGCAAAGTCCTAGGCATTGATAGCATTAGCGCTGCAATTACATTC... | TATGTGTAATGATGCAATGGCTGTTTGTAGTTGACATTGGTAGCGACATCCTGGGCCATCTTTGCAGCTGTGATGCTAACCATGTCCCCAGGGGTATGGTAGCTGGTTTTGGTGTTCTCATAGTTCTTCTTGTATTCACGATCAGACTGCAGCTTTGCCACATTCATATAGTGGACCAGCTTGGGATCATCCTGGAGGCTTCTGAAACCCACATGCTTTCCCTTTGACTTCTCATAAGCTTCCTTGTATTTATACTGTGGAGGCAGAATTGGGTTAGCAAAGTCCTAGGCATTGATAGCATTAGCGCTGCAATTACATTC... | pathogenic | 44,047 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 151675322, gene NEB (nebulin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Nemaline_myopathy_2'] | AACAGGTCAGAACCTCAACTGTTATGCAAGAGAATTCAAATCCACTTAAACCCTGCAGACTTTCAGCTCCTGCTATTTAAGCCTTAATTCATAAATAAGAGTTTAGCAGGCAAAAGGATCGTCAAGTAATTTCTAACATGTGAAAAATCACTGTGTAAGTGCTAAAAAAAAAAAAAGAAAAAAAAAGAATAAAGTTATACTGTAGACTTTCACTTTCTACTTAGACTAGAAATGTATTTCATAGTGATGTGCATTGTGTGCAGACCTCCGAGGAAGATGTTTTCAGTATCATTCCTACAAGGAAAGTAGCAGAGTTTTTA... | AACAGGTCAGAACCTCAACTGTTATGCAAGAGAATTCAAATCCACTTAAACCCTGCAGACTTTCAGCTCCTGCTATTTAAGCCTTAATTCATAAATAAGAGTTTAGCAGGCAAAAGGATCGTCAAGTAATTTCTAACATGTGAAAAATCACTGTGTAAGTGCTAAAAAAAAAAAAAGAAAAAAAAAGAATAAAGTTATACTGTAGACTTTCACTTTCTACTTAGACTAGAAATGTATTTCATAGTGATGTGCATTGTGTGCAGACCTCCGAGGAAGATGTTTTCAGTATCATTCCTACAAGGAAAGTAGCAGAGTTTTTA... | pathogenic | 44,058 |
Determine whether the variant at chromosome 2, position 151677647, in gene NEB (nebulin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | AAGAAAATAGAAATTGTTCACTGCCCAAGATGAATGGAAGGTAAATTCAACCATGAAACCCTAGCAAGAATAATAGAATTCACCAAAGCCAAATCAATTTATTATTTGCCTGTGAGTTAATAGCTCTTCCATTTTTGTTAGTTTCTATTTTTTTATCCCTAGAGAGAAAGTAGTAGTTAGAATAAGTTTTTCACTTCTGCTAAAAACTTTCCAAATTATAATTGTATCAGTGAAAGCATACAATAATTTCCTCATAATGTAGAGGTGCTTATACATGAATCTAGCATACTCAAAAGGCTCACTATTTCATATTTGCCCTA... | AAGAAAATAGAAATTGTTCACTGCCCAAGATGAATGGAAGGTAAATTCAACCATGAAACCCTAGCAAGAATAATAGAATTCACCAAAGCCAAATCAATTTATTATTTGCCTGTGAGTTAATAGCTCTTCCATTTTTGTTAGTTTCTATTTTTTTATCCCTAGAGAGAAAGTAGTAGTTAGAATAAGTTTTTCACTTCTGCTAAAAACTTTCCAAATTATAATTGTATCAGTGAAAGCATACAATAATTTCCTCATAATGTAGAGGTGCTTATACATGAATCTAGCATACTCAAAAGGCTCACTATTTCATATTTGCCCTA... | pathogenic | 44,064 |
Clinical classification of chromosome 2, position 151677954, gene NEB (nebulin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | CATATTTGCCCTATGTTGTTACTTTAAAGAATTATATACACTTTTGACTGAAAGATGTCAAAGTATGTGATGCAGAAATCTTACTGCATCCTCCTCCTGGTATTAGAAATATATTACTTAGTTCCTAAAACTAAAATAGAGCCAGAATCACAAGTAGATTTTCAATCTCATAATTCTCATTTCTCATATATATCCTTATTTCCAAGGCATGACTATATGGAATATGACATGTAAACTGGTATGCATGTACCCAAGATAAAATCTGACATGGCTAATAGCTAAATTAATCCCCAAATAATAAATAATTTCTTCTAGGACCC... | CATATTTGCCCTATGTTGTTACTTTAAAGAATTATATACACTTTTGACTGAAAGATGTCAAAGTATGTGATGCAGAAATCTTACTGCATCCTCCTCCTGGTATTAGAAATATATTACTTAGTTCCTAAAACTAAAATAGAGCCAGAATCACAAGTAGATTTTCAATCTCATAATTCTCATTTCTCATATATATCCTTATTTCCAAGGCATGACTATATGGAATATGACATGTAAACTGGTATGCATGTACCCAAGATAAAATCTGACATGGCTAATAGCTAAATTAATCCCCAAATAATAAATAATTTCTTCTAGGACCC... | pathogenic | 44,071 |
The genetic variant at chromosome 2, position 151678052, affecting gene NEB (nebulin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | GGTATTAGAAATATATTACTTAGTTCCTAAAACTAAAATAGAGCCAGAATCACAAGTAGATTTTCAATCTCATAATTCTCATTTCTCATATATATCCTTATTTCCAAGGCATGACTATATGGAATATGACATGTAAACTGGTATGCATGTACCCAAGATAAAATCTGACATGGCTAATAGCTAAATTAATCCCCAAATAATAAATAATTTCTTCTAGGACCCAAAGAGTTACCTCTAAGTCCTCATTGCCTTTAAGAACAATATCTAAGCAATGACAGATTCATGAATTCGACCTTCTACACAGCTCCTTCTCTGCCATT... | GGTATTAGAAATATATTACTTAGTTCCTAAAACTAAAATAGAGCCAGAATCACAAGTAGATTTTCAATCTCATAATTCTCATTTCTCATATATATCCTTATTTCCAAGGCATGACTATATGGAATATGACATGTAAACTGGTATGCATGTACCCAAGATAAAATCTGACATGGCTAATAGCTAAATTAATCCCCAAATAATAAATAATTTCTTCTAGGACCCAAAGAGTTACCTCTAAGTCCTCATTGCCTTTAAGAACAATATCTAAGCAATGACAGATTCATGAATTCGACCTTCTACACAGCTCCTTCTCTGCCATT... | pathogenic | 44,073 |
Variant in NEB (nebulin), chromosome 2, position 151678058—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | AGAAATATATTACTTAGTTCCTAAAACTAAAATAGAGCCAGAATCACAAGTAGATTTTCAATCTCATAATTCTCATTTCTCATATATATCCTTATTTCCAAGGCATGACTATATGGAATATGACATGTAAACTGGTATGCATGTACCCAAGATAAAATCTGACATGGCTAATAGCTAAATTAATCCCCAAATAATAAATAATTTCTTCTAGGACCCAAAGAGTTACCTCTAAGTCCTCATTGCCTTTAAGAACAATATCTAAGCAATGACAGATTCATGAATTCGACCTTCTACACAGCTCCTTCTCTGCCATTGCTACT... | AGAAATATATTACTTAGTTCCTAAAACTAAAATAGAGCCAGAATCACAAGTAGATTTTCAATCTCATAATTCTCATTTCTCATATATATCCTTATTTCCAAGGCATGACTATATGGAATATGACATGTAAACTGGTATGCATGTACCCAAGATAAAATCTGACATGGCTAATAGCTAAATTAATCCCCAAATAATAAATAATTTCTTCTAGGACCCAAAGAGTTACCTCTAAGTCCTCATTGCCTTTAAGAACAATATCTAAGCAATGACAGATTCATGAATTCGACCTTCTACACAGCTCCTTCTCTGCCATTGCTACT... | pathogenic | 44,075 |
Chromosome 2, position 151678172, gene NEB (nebulin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | GGAATATGACATGTAAACTGGTATGCATGTACCCAAGATAAAATCTGACATGGCTAATAGCTAAATTAATCCCCAAATAATAAATAATTTCTTCTAGGACCCAAAGAGTTACCTCTAAGTCCTCATTGCCTTTAAGAACAATATCTAAGCAATGACAGATTCATGAATTCGACCTTCTACACAGCTCCTTCTCTGCCATTGCTACTGCCTTAGCTTCAGTCCAATTAAGCCTTCCTTGGATTTCGGTGACAGCCTTCTAATTCATCTTCTCACCTCCAGTCTCTCCTCTTTCCAAAGTCTCCACACTTGGGGCCAGCATT... | GGAATATGACATGTAAACTGGTATGCATGTACCCAAGATAAAATCTGACATGGCTAATAGCTAAATTAATCCCCAAATAATAAATAATTTCTTCTAGGACCCAAAGAGTTACCTCTAAGTCCTCATTGCCTTTAAGAACAATATCTAAGCAATGACAGATTCATGAATTCGACCTTCTACACAGCTCCTTCTCTGCCATTGCTACTGCCTTAGCTTCAGTCCAATTAAGCCTTCCTTGGATTTCGGTGACAGCCTTCTAATTCATCTTCTCACCTCCAGTCTCTCCTCTTTCCAAAGTCTCCACACTTGGGGCCAGCATT... | pathogenic | 44,078 |
A genetic alteration at chromosome 2, position 151678172, in gene NEB (nebulin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | GGAATATGACATGTAAACTGGTATGCATGTACCCAAGATAAAATCTGACATGGCTAATAGCTAAATTAATCCCCAAATAATAAATAATTTCTTCTAGGACCCAAAGAGTTACCTCTAAGTCCTCATTGCCTTTAAGAACAATATCTAAGCAATGACAGATTCATGAATTCGACCTTCTACACAGCTCCTTCTCTGCCATTGCTACTGCCTTAGCTTCAGTCCAATTAAGCCTTCCTTGGATTTCGGTGACAGCCTTCTAATTCATCTTCTCACCTCCAGTCTCTCCTCTTTCCAAAGTCTCCACACTTGGGGCCAGCATT... | GGAATATGACATGTAAACTGGTATGCATGTACCCAAGATAAAATCTGACATGGCTAATAGCTAAATTAATCCCCAAATAATAAATAATTTCTTCTAGGACCCAAAGAGTTACCTCTAAGTCCTCATTGCCTTTAAGAACAATATCTAAGCAATGACAGATTCATGAATTCGACCTTCTACACAGCTCCTTCTCTGCCATTGCTACTGCCTTAGCTTCAGTCCAATTAAGCCTTCCTTGGATTTCGGTGACAGCCTTCTAATTCATCTTCTCACCTCCAGTCTCTCCTCTTTCCAAAGTCTCCACACTTGGGGCCAGCATT... | pathogenic | 44,079 |
A mutation at chromosome position 151679717 on chromosome 2 in gene NEB (nebulin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | TCAGAGCATCACCGGCCTTTTTAACTTTTTCGACGTCGAGACTGCCAATAGGAATCCAGCCAATGCCTTTCATCCAGTTGTTGTAGTCTTCCTTGTAGACGTTCTACAGCAATGGAGAAAAGAGGAGTGAGGGCCTAGGACAGGGTTCTTTTCATGGCAGGCTCTGAACTTAATAGGGGGGTTTCTTGAGAAGTAAATGACACTTACATCACTCTGTATCTGCATCATGTTCTTAGACAGCTCCAGGTCCATGGCGTCAGGCAAGTAGGTGTAATGATGGAGAGAATGCTTATAGTTGACATTGCTGACCACATCCTGGG... | TCAGAGCATCACCGGCCTTTTTAACTTTTTCGACGTCGAGACTGCCAATAGGAATCCAGCCAATGCCTTTCATCCAGTTGTTGTAGTCTTCCTTGTAGACGTTCTACAGCAATGGAGAAAAGAGGAGTGAGGGCCTAGGACAGGGTTCTTTTCATGGCAGGCTCTGAACTTAATAGGGGGGTTTCTTGAGAAGTAAATGACACTTACATCACTCTGTATCTGCATCATGTTCTTAGACAGCTCCAGGTCCATGGCGTCAGGCAAGTAGGTGTAATGATGGAGAGAATGCTTATAGTTGACATTGCTGACCACATCCTGGG... | pathogenic | 44,080 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 151684828, gene NEB (nebulin): what disease(s) if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | AAGAGAAAGGTTACATTTCTTTGCTGTGTCATCCTCATTATGTAAAATCATCAAAGTTTTACCCAAAACAATGTTTTTGAGATTTCTGACCAGCTTCCTTACTCCAGACATTAAGGTTATTTTATATATTTCTTTGGTGAGATATAGTAACAGCTCTTCGATTTTTGCTTTCCTTCTAACTGGCGTTATGTTCCATTTCATCCTTATTTCCAACTTAATGGAAGTCTGTGGTACTCTAATTCCAACCTGGAAAATGTTCGAGTCAAAGCTGCACTTCAAAGAGTAAGTGAAATTGTCAGTTAACCAAATGTGAGACGTTT... | AAGAGAAAGGTTACATTTCTTTGCTGTGTCATCCTCATTATGTAAAATCATCAAAGTTTTACCCAAAACAATGTTTTTGAGATTTCTGACCAGCTTCCTTACTCCAGACATTAAGGTTATTTTATATATTTCTTTGGTGAGATATAGTAACAGCTCTTCGATTTTTGCTTTCCTTCTAACTGGCGTTATGTTCCATTTCATCCTTATTTCCAACTTAATGGAAGTCTGTGGTACTCTAATTCCAACCTGGAAAATGTTCGAGTCAAAGCTGCACTTCAAAGAGTAAGTGAAATTGTCAGTTAACCAAATGTGAGACGTTT... | pathogenic | 44,097 |
Does the variant impacting NEB (nebulin) on chromosome 2, position 151684829, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | AGAGAAAGGTTACATTTCTTTGCTGTGTCATCCTCATTATGTAAAATCATCAAAGTTTTACCCAAAACAATGTTTTTGAGATTTCTGACCAGCTTCCTTACTCCAGACATTAAGGTTATTTTATATATTTCTTTGGTGAGATATAGTAACAGCTCTTCGATTTTTGCTTTCCTTCTAACTGGCGTTATGTTCCATTTCATCCTTATTTCCAACTTAATGGAAGTCTGTGGTACTCTAATTCCAACCTGGAAAATGTTCGAGTCAAAGCTGCACTTCAAAGAGTAAGTGAAATTGTCAGTTAACCAAATGTGAGACGTTTG... | AGAGAAAGGTTACATTTCTTTGCTGTGTCATCCTCATTATGTAAAATCATCAAAGTTTTACCCAAAACAATGTTTTTGAGATTTCTGACCAGCTTCCTTACTCCAGACATTAAGGTTATTTTATATATTTCTTTGGTGAGATATAGTAACAGCTCTTCGATTTTTGCTTTCCTTCTAACTGGCGTTATGTTCCATTTCATCCTTATTTCCAACTTAATGGAAGTCTGTGGTACTCTAATTCCAACCTGGAAAATGTTCGAGTCAAAGCTGCACTTCAAAGAGTAAGTGAAATTGTCAGTTAACCAAATGTGAGACGTTTG... | pathogenic | 44,098 |
Chromosome 2, position 151687608, gene NEB (nebulin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ATTGCAGCAGTTAAAAGACTTCACAGGAGAAAAGTTTGAGAAACTGAGCCATTAAAATAACGTTGGCCCTTCCGTACAGCATTATAAACCAAATGTCCTGGCTGGGCCTCAAGGACTCCCTTCATTGTCTGGTTTTCTGGAATGGTTAGACAAGGTGCTAGTTGGGTCAAATTCCCAGCTTCATTGTATCCACTCACCAATTACTTTGACAGAAAAATGTTGACCCACTGCCTTTCAGAAAACTCTAAACTCATCCTAGTTTCCCATGGTCACATATGTGTTAGAGACGGTGACCCAAGCTGGCAAGTACAGATGTGCAC... | ATTGCAGCAGTTAAAAGACTTCACAGGAGAAAAGTTTGAGAAACTGAGCCATTAAAATAACGTTGGCCCTTCCGTACAGCATTATAAACCAAATGTCCTGGCTGGGCCTCAAGGACTCCCTTCATTGTCTGGTTTTCTGGAATGGTTAGACAAGGTGCTAGTTGGGTCAAATTCCCAGCTTCATTGTATCCACTCACCAATTACTTTGACAGAAAAATGTTGACCCACTGCCTTTCAGAAAACTCTAAACTCATCCTAGTTTCCCATGGTCACATATGTGTTAGAGACGGTGACCCAAGCTGGCAAGTACAGATGTGCAC... | benign | 44,109 |
Evaluate this variant at chromosome 2, position 151687649, gene NEB (nebulin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Nemaline_myopathy_2'] | AACTGAGCCATTAAAATAACGTTGGCCCTTCCGTACAGCATTATAAACCAAATGTCCTGGCTGGGCCTCAAGGACTCCCTTCATTGTCTGGTTTTCTGGAATGGTTAGACAAGGTGCTAGTTGGGTCAAATTCCCAGCTTCATTGTATCCACTCACCAATTACTTTGACAGAAAAATGTTGACCCACTGCCTTTCAGAAAACTCTAAACTCATCCTAGTTTCCCATGGTCACATATGTGTTAGAGACGGTGACCCAAGCTGGCAAGTACAGATGTGCACTACAAATCTTCTGTAACAATTCCTTTTGCAAATGATCTGAT... | AACTGAGCCATTAAAATAACGTTGGCCCTTCCGTACAGCATTATAAACCAAATGTCCTGGCTGGGCCTCAAGGACTCCCTTCATTGTCTGGTTTTCTGGAATGGTTAGACAAGGTGCTAGTTGGGTCAAATTCCCAGCTTCATTGTATCCACTCACCAATTACTTTGACAGAAAAATGTTGACCCACTGCCTTTCAGAAAACTCTAAACTCATCCTAGTTTCCCATGGTCACATATGTGTTAGAGACGGTGACCCAAGCTGGCAAGTACAGATGTGCACTACAAATCTTCTGTAACAATTCCTTTTGCAAATGATCTGAT... | pathogenic | 44,110 |
Chromosome 2, position 151691869, 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'] | ATGCTCAGAAAAGTGGCACACGAGCTGAAATGACTTCTGAGTTATACTGATGCCATTCTCCTCTTTACTAATTGGGTATGAGCTAATTTGTGTCATTAAAATATATTTTATAGTAGGACAAACTGTATCTTTCACTTACCTATCTTGAGAAGGATGTACTACTCTCTAGGACTTAGCTATGTTAGCACCTTGCTGTTCAAAGAGTAGCCTACCAATCACAGCATCAGCATCACCTAGGAGCTTATTAGAAAGTCAGAATATGGAGTCCCCTAGATCTACTGAATTAGAATCTGCACTTCAACAGGGTCAGCAGGCGATTG... | ATGCTCAGAAAAGTGGCACACGAGCTGAAATGACTTCTGAGTTATACTGATGCCATTCTCCTCTTTACTAATTGGGTATGAGCTAATTTGTGTCATTAAAATATATTTTATAGTAGGACAAACTGTATCTTTCACTTACCTATCTTGAGAAGGATGTACTACTCTCTAGGACTTAGCTATGTTAGCACCTTGCTGTTCAAAGAGTAGCCTACCAATCACAGCATCAGCATCACCTAGGAGCTTATTAGAAAGTCAGAATATGGAGTCCCCTAGATCTACTGAATTAGAATCTGCACTTCAACAGGGTCAGCAGGCGATTG... | pathogenic | 44,119 |
The chromosome 2, position 151692047 genetic variant in gene NEB (nebulin): benign or pathogenic? If pathogenic, indicate disease(s). | benign | ATGTTAGCACCTTGCTGTTCAAAGAGTAGCCTACCAATCACAGCATCAGCATCACCTAGGAGCTTATTAGAAAGTCAGAATATGGAGTCCCCTAGATCTACTGAATTAGAATCTGCACTTCAACAGGGTCAGCAGGCGATTGCATGAATGTGGAGGTCTGAGAAGCACTGCTGTTTTCCCCCGATCTTGGCATGACTGGACCACGCCTGTCTTAGACTTTCTTTGACCACTCAATCTAAAGTGCCCATCCAGTTCTTGATGTCATCCCACTTTAATTCTGTAGCACCATTCTATATTAGTTTTCTTATCACTGTTTGATG... | ATGTTAGCACCTTGCTGTTCAAAGAGTAGCCTACCAATCACAGCATCAGCATCACCTAGGAGCTTATTAGAAAGTCAGAATATGGAGTCCCCTAGATCTACTGAATTAGAATCTGCACTTCAACAGGGTCAGCAGGCGATTGCATGAATGTGGAGGTCTGAGAAGCACTGCTGTTTTCCCCCGATCTTGGCATGACTGGACCACGCCTGTCTTAGACTTTCTTTGACCACTCAATCTAAAGTGCCCATCCAGTTCTTGATGTCATCCCACTTTAATTCTGTAGCACCATTCTATATTAGTTTTCTTATCACTGTTTGATG... | benign | 44,121 |
Variant on chromosome 2, at position 151692088, affecting NEB (nebulin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | AGCATCAGCATCACCTAGGAGCTTATTAGAAAGTCAGAATATGGAGTCCCCTAGATCTACTGAATTAGAATCTGCACTTCAACAGGGTCAGCAGGCGATTGCATGAATGTGGAGGTCTGAGAAGCACTGCTGTTTTCCCCCGATCTTGGCATGACTGGACCACGCCTGTCTTAGACTTTCTTTGACCACTCAATCTAAAGTGCCCATCCAGTTCTTGATGTCATCCCACTTTAATTCTGTAGCACCATTCTATATTAGTTTTCTTATCACTGTTTGATGTCTGTCTTGTTACTGTGCCCTTTCTTTTTGCAAAATCTTTG... | AGCATCAGCATCACCTAGGAGCTTATTAGAAAGTCAGAATATGGAGTCCCCTAGATCTACTGAATTAGAATCTGCACTTCAACAGGGTCAGCAGGCGATTGCATGAATGTGGAGGTCTGAGAAGCACTGCTGTTTTCCCCCGATCTTGGCATGACTGGACCACGCCTGTCTTAGACTTTCTTTGACCACTCAATCTAAAGTGCCCATCCAGTTCTTGATGTCATCCCACTTTAATTCTGTAGCACCATTCTATATTAGTTTTCTTATCACTGTTTGATGTCTGTCTTGTTACTGTGCCCTTTCTTTTTGCAAAATCTTTG... | pathogenic | 44,124 |
Does the variant on chromosome 2 at location 151692099 affecting gene NEB (nebulin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Nemaline_myopathy_2'] | CACCTAGGAGCTTATTAGAAAGTCAGAATATGGAGTCCCCTAGATCTACTGAATTAGAATCTGCACTTCAACAGGGTCAGCAGGCGATTGCATGAATGTGGAGGTCTGAGAAGCACTGCTGTTTTCCCCCGATCTTGGCATGACTGGACCACGCCTGTCTTAGACTTTCTTTGACCACTCAATCTAAAGTGCCCATCCAGTTCTTGATGTCATCCCACTTTAATTCTGTAGCACCATTCTATATTAGTTTTCTTATCACTGTTTGATGTCTGTCTTGTTACTGTGCCCTTTCTTTTTGCAAAATCTTTGTTAGCAAATTC... | CACCTAGGAGCTTATTAGAAAGTCAGAATATGGAGTCCCCTAGATCTACTGAATTAGAATCTGCACTTCAACAGGGTCAGCAGGCGATTGCATGAATGTGGAGGTCTGAGAAGCACTGCTGTTTTCCCCCGATCTTGGCATGACTGGACCACGCCTGTCTTAGACTTTCTTTGACCACTCAATCTAAAGTGCCCATCCAGTTCTTGATGTCATCCCACTTTAATTCTGTAGCACCATTCTATATTAGTTTTCTTATCACTGTTTGATGTCTGTCTTGTTACTGTGCCCTTTCTTTTTGCAAAATCTTTGTTAGCAAATTC... | pathogenic | 44,125 |
Is the variant located on chromosome 2 at position 151694369, gene NEB (nebulin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Inborn_genetic_diseases', 'Nemaline_myopathy'] | ACTCTTTGCCTTTGTCTTCTCATAGTTTTCCTTGTATAATCTCTGTTAAAGGAAAAATAAATTAAACCAAAAAGAAAGAAATATATATCTCATAAAGTAAAAGTCATTCATGTCTTTGCTGCACTTTAACTGAAGGGGCAAAATTTATGTTTTCTCACCATCAATTTTCCACAAAGCAGAAAAGCAGAATAGATGTGGTAGAGGCTCATGCCTTATATAATCTCATCTGCTAATAATCATGAAGATGTTTATGTTACTTTTCCTAATATTTTTTCAGACTGAAAAACGCACACCAATGCTGTCTTTTTTTAAATAATTTT... | ACTCTTTGCCTTTGTCTTCTCATAGTTTTCCTTGTATAATCTCTGTTAAAGGAAAAATAAATTAAACCAAAAAGAAAGAAATATATATCTCATAAAGTAAAAGTCATTCATGTCTTTGCTGCACTTTAACTGAAGGGGCAAAATTTATGTTTTCTCACCATCAATTTTCCACAAAGCAGAAAAGCAGAATAGATGTGGTAGAGGCTCATGCCTTATATAATCTCATCTGCTAATAATCATGAAGATGTTTATGTTACTTTTCCTAATATTTTTTCAGACTGAAAAACGCACACCAATGCTGTCTTTTTTTAAATAATTTT... | pathogenic | 44,133 |
The genetic variant at chromosome 2, position 151694415, affecting gene NEB (nebulin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TAAAGGAAAAATAAATTAAACCAAAAAGAAAGAAATATATATCTCATAAAGTAAAAGTCATTCATGTCTTTGCTGCACTTTAACTGAAGGGGCAAAATTTATGTTTTCTCACCATCAATTTTCCACAAAGCAGAAAAGCAGAATAGATGTGGTAGAGGCTCATGCCTTATATAATCTCATCTGCTAATAATCATGAAGATGTTTATGTTACTTTTCCTAATATTTTTTCAGACTGAAAAACGCACACCAATGCTGTCTTTTTTTAAATAATTTTTTGTCTTAAAGTAATTCATTTGAATATGTTTAAAGAAAAATGAGTT... | TAAAGGAAAAATAAATTAAACCAAAAAGAAAGAAATATATATCTCATAAAGTAAAAGTCATTCATGTCTTTGCTGCACTTTAACTGAAGGGGCAAAATTTATGTTTTCTCACCATCAATTTTCCACAAAGCAGAAAAGCAGAATAGATGTGGTAGAGGCTCATGCCTTATATAATCTCATCTGCTAATAATCATGAAGATGTTTATGTTACTTTTCCTAATATTTTTTCAGACTGAAAAACGCACACCAATGCTGTCTTTTTTTAAATAATTTTTTGTCTTAAAGTAATTCATTTGAATATGTTTAAAGAAAAATGAGTT... | pathogenic | 44,134 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 151695628, gene NEB (nebulin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | TGCAAAGGACATGATCTGATTCCATTTTATGGCTGCACAGTATTCCATGGTCTATCTGTACCACATTTTCTTTATACAATCTATCGTTGTTGATTCCTTGTCTTTGCTATTGTGAATAGTGCTGCAATGAATATATGTGTTCATATATATTTATAATAGAATGATTTATATTCCTTTGGGTATATGCCCAGTAATGGGATTGCTGGGTCATATTTTATTTTTAATAAGTATGTTAAAGTCTTTAAAATAAGATCAATATTCTATAAATTTCTTAAAATAAAATGCTTTGCTTTTGAGTTTATGCCTTATGTAGTTTTTCT... | TGCAAAGGACATGATCTGATTCCATTTTATGGCTGCACAGTATTCCATGGTCTATCTGTACCACATTTTCTTTATACAATCTATCGTTGTTGATTCCTTGTCTTTGCTATTGTGAATAGTGCTGCAATGAATATATGTGTTCATATATATTTATAATAGAATGATTTATATTCCTTTGGGTATATGCCCAGTAATGGGATTGCTGGGTCATATTTTATTTTTAATAAGTATGTTAAAGTCTTTAAAATAAGATCAATATTCTATAAATTTCTTAAAATAAAATGCTTTGCTTTTGAGTTTATGCCTTATGTAGTTTTTCT... | pathogenic | 44,144 |
Regarding the variant at chromosome 2 and position 151695683, affecting gene NEB (nebulin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | CTGTACCACATTTTCTTTATACAATCTATCGTTGTTGATTCCTTGTCTTTGCTATTGTGAATAGTGCTGCAATGAATATATGTGTTCATATATATTTATAATAGAATGATTTATATTCCTTTGGGTATATGCCCAGTAATGGGATTGCTGGGTCATATTTTATTTTTAATAAGTATGTTAAAGTCTTTAAAATAAGATCAATATTCTATAAATTTCTTAAAATAAAATGCTTTGCTTTTGAGTTTATGCCTTATGTAGTTTTTCTTACTTTGCCCTTACATTAATTTCTTTACTTCTTTTCATTTTCCTATATATATATT... | CTGTACCACATTTTCTTTATACAATCTATCGTTGTTGATTCCTTGTCTTTGCTATTGTGAATAGTGCTGCAATGAATATATGTGTTCATATATATTTATAATAGAATGATTTATATTCCTTTGGGTATATGCCCAGTAATGGGATTGCTGGGTCATATTTTATTTTTAATAAGTATGTTAAAGTCTTTAAAATAAGATCAATATTCTATAAATTTCTTAAAATAAAATGCTTTGCTTTTGAGTTTATGCCTTATGTAGTTTTTCTTACTTTGCCCTTACATTAATTTCTTTACTTCTTTTCATTTTCCTATATATATATT... | pathogenic | 44,146 |
Determine if the mutation at chromosome 2, position 151696679 in gene NEB (nebulin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TGGACAAAAAAATTCAGCAAAGGAATTGGCAAAAGTGATATGCATGTCACGACCTTTAAAGACTAGTGGGTAACTAAATACCTTATCTTAATATAAAATAAATGGGCCCTTTTTATTGTCTAGGAAATCATGCATATTTTAAATATTTCTTCTCAAGCTGGAGCTATTAATTCTCCAAGATTGGGCTTCTCTACTCCCCATGAGAATTTTTTATCAAATTAATTTAATTCTAGCTATTATACTCATATTTGATTCCTAACACTGAATGTTTTATAGAGTAGCACATATATTCTACAGTTAACTTACTTTTTTATGATATA... | TGGACAAAAAAATTCAGCAAAGGAATTGGCAAAAGTGATATGCATGTCACGACCTTTAAAGACTAGTGGGTAACTAAATACCTTATCTTAATATAAAATAAATGGGCCCTTTTTATTGTCTAGGAAATCATGCATATTTTAAATATTTCTTCTCAAGCTGGAGCTATTAATTCTCCAAGATTGGGCTTCTCTACTCCCCATGAGAATTTTTTATCAAATTAATTTAATTCTAGCTATTATACTCATATTTGATTCCTAACACTGAATGTTTTATAGAGTAGCACATATATTCTACAGTTAACTTACTTTTTTATGATATA... | pathogenic | 44,149 |
Clinical significance of chromosome 2, position 151697451, gene NEB (nebulin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy'] | CATATTTTGTAAGGTGAATTCAGTTATACTGGCAGAGGCATAGCAACATGATACAAATGTTAACAGTTCTTCTCATTTTTAACATTAATCTATTCATTGAATTGCAACAAAGCAGTTCAAACATAAAAGCACAGGTTGTCAGTACATCACATGGTACAGGGCATAAGGAACTTACATCACTCAAGTTATAGGCATTGACTTTGTGCTGGATAAAAGCAGGAGTATCAGGGGGGATATGGCACTTGAACTTTTCACTTTCATGTTTTGCTTTGTAATTTAACTATGACAGAGAGAGAACCAATTAGTTCAGAAGAATTGTT... | CATATTTTGTAAGGTGAATTCAGTTATACTGGCAGAGGCATAGCAACATGATACAAATGTTAACAGTTCTTCTCATTTTTAACATTAATCTATTCATTGAATTGCAACAAAGCAGTTCAAACATAAAAGCACAGGTTGTCAGTACATCACATGGTACAGGGCATAAGGAACTTACATCACTCAAGTTATAGGCATTGACTTTGTGCTGGATAAAAGCAGGAGTATCAGGGGGGATATGGCACTTGAACTTTTCACTTTCATGTTTTGCTTTGTAATTTAACTATGACAGAGAGAGAACCAATTAGTTCAGAAGAATTGTT... | pathogenic | 44,158 |
Evaluate the clinical significance of the mutation at chromosome 2, position 151697585 in gene NEB (nebulin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | GTTGTCAGTACATCACATGGTACAGGGCATAAGGAACTTACATCACTCAAGTTATAGGCATTGACTTTGTGCTGGATAAAAGCAGGAGTATCAGGGGGGATATGGCACTTGAACTTTTCACTTTCATGTTTTGCTTTGTAATTTAACTATGACAGAGAGAGAACCAATTAGTTCAGAAGAATTGTTCCAGAATACAAAAATTCTTGTGTGGTACATTTTGTAAAGTTAGTGACAGCATTATTGAGATCAGAAGAGACATCTAGAGCTTGGGTAGGCCATCTGCATTACTGATCCTGTGTGCAGGACACTTGGCAGCTATT... | GTTGTCAGTACATCACATGGTACAGGGCATAAGGAACTTACATCACTCAAGTTATAGGCATTGACTTTGTGCTGGATAAAAGCAGGAGTATCAGGGGGGATATGGCACTTGAACTTTTCACTTTCATGTTTTGCTTTGTAATTTAACTATGACAGAGAGAGAACCAATTAGTTCAGAAGAATTGTTCCAGAATACAAAAATTCTTGTGTGGTACATTTTGTAAAGTTAGTGACAGCATTATTGAGATCAGAAGAGACATCTAGAGCTTGGGTAGGCCATCTGCATTACTGATCCTGTGTGCAGGACACTTGGCAGCTATT... | pathogenic | 44,162 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 151709672, gene NEB (nebulin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | GGGAGAATAGGGAAGGCAGGGTTCACAAGCCCCCATCAGGAGCCTGTCCACAGGGATTAGAACAAGAAACTGATCCTGGTTCCCACCATGATCCCCAGTGTAAGCCCTTTATTCAGGCAATATAAGCACAGAAGTTCAAGGAATCCTAGATAAATCTACCACTTATGAACTCAGAAAACAAGGCAATCAGCTTGGTATCCAAAGGCAAGAGATACACAAGGGAAGCACAGAGGCATCAACCCCTCAGCCTCCACAGAGCATCACGACAGTATGCTACAGTAATGGGAGACTCAGATCACTTTTCCACCTTAGAGAATTAA... | GGGAGAATAGGGAAGGCAGGGTTCACAAGCCCCCATCAGGAGCCTGTCCACAGGGATTAGAACAAGAAACTGATCCTGGTTCCCACCATGATCCCCAGTGTAAGCCCTTTATTCAGGCAATATAAGCACAGAAGTTCAAGGAATCCTAGATAAATCTACCACTTATGAACTCAGAAAACAAGGCAATCAGCTTGGTATCCAAAGGCAAGAGATACACAAGGGAAGCACAGAGGCATCAACCCCTCAGCCTCCACAGAGCATCACGACAGTATGCTACAGTAATGGGAGACTCAGATCACTTTTCCACCTTAGAGAATTAA... | pathogenic | 44,169 |
Classify the chromosome 2 variant at position 151709756 affecting gene NEB (nebulin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | ACCATGATCCCCAGTGTAAGCCCTTTATTCAGGCAATATAAGCACAGAAGTTCAAGGAATCCTAGATAAATCTACCACTTATGAACTCAGAAAACAAGGCAATCAGCTTGGTATCCAAAGGCAAGAGATACACAAGGGAAGCACAGAGGCATCAACCCCTCAGCCTCCACAGAGCATCACGACAGTATGCTACAGTAATGGGAGACTCAGATCACTTTTCCACCTTAGAGAATTAACTGTTTCCTTGAAAAATGGAAACGACCAGAAAGCAGATTCACAAACTTTACTCTCCCCCTACCCGCATCTGGGATACACAGCCT... | ACCATGATCCCCAGTGTAAGCCCTTTATTCAGGCAATATAAGCACAGAAGTTCAAGGAATCCTAGATAAATCTACCACTTATGAACTCAGAAAACAAGGCAATCAGCTTGGTATCCAAAGGCAAGAGATACACAAGGGAAGCACAGAGGCATCAACCCCTCAGCCTCCACAGAGCATCACGACAGTATGCTACAGTAATGGGAGACTCAGATCACTTTTCCACCTTAGAGAATTAACTGTTTCCTTGAAAAATGGAAACGACCAGAAAGCAGATTCACAAACTTTACTCTCCCCCTACCCGCATCTGGGATACACAGCCT... | pathogenic | 44,170 |
A genetic variant on chromosome 2, position 151717466, affects the gene NEB (nebulin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | CCCCCCAAATTCATATGTTGAAGACCTAACTCACAAGCATGTGATGGTACTTGAAGGTAAGGGGATTTGGGAAGCAATTAAGTTTAGGTGAGGTCATGAGGGTGGGAACCCCATAATGAGATTATCATCCTTATAAGAAGAGGAAGAAGAGGAAGAGATCAGAGCTGGCTCTCTGTCTCCAATGTGTGAGAACACAATGAGAAGGCAGCTATCTACAAGCCAGGAAGGGGTCTCTCACCAGGAACTGAATCCGTGATCTTAGACTCCCAGCCTCCAGAACTGTGAGAAAATAAACGTCTATTGTTTAAGCCACCCAATGT... | CCCCCCAAATTCATATGTTGAAGACCTAACTCACAAGCATGTGATGGTACTTGAAGGTAAGGGGATTTGGGAAGCAATTAAGTTTAGGTGAGGTCATGAGGGTGGGAACCCCATAATGAGATTATCATCCTTATAAGAAGAGGAAGAAGAGGAAGAGATCAGAGCTGGCTCTCTGTCTCCAATGTGTGAGAACACAATGAGAAGGCAGCTATCTACAAGCCAGGAAGGGGTCTCTCACCAGGAACTGAATCCGTGATCTTAGACTCCCAGCCTCCAGAACTGTGAGAAAATAAACGTCTATTGTTTAAGCCACCCAATGT... | pathogenic | 44,177 |
Variant in NEB (nebulin), chromosome 2, position 151717498—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | ACAAGCATGTGATGGTACTTGAAGGTAAGGGGATTTGGGAAGCAATTAAGTTTAGGTGAGGTCATGAGGGTGGGAACCCCATAATGAGATTATCATCCTTATAAGAAGAGGAAGAAGAGGAAGAGATCAGAGCTGGCTCTCTGTCTCCAATGTGTGAGAACACAATGAGAAGGCAGCTATCTACAAGCCAGGAAGGGGTCTCTCACCAGGAACTGAATCCGTGATCTTAGACTCCCAGCCTCCAGAACTGTGAGAAAATAAACGTCTATTGTTTAAGCCACCCAATGTATGGTATTTTGTTGTAGAAGCCCAAGCTGACT... | ACAAGCATGTGATGGTACTTGAAGGTAAGGGGATTTGGGAAGCAATTAAGTTTAGGTGAGGTCATGAGGGTGGGAACCCCATAATGAGATTATCATCCTTATAAGAAGAGGAAGAAGAGGAAGAGATCAGAGCTGGCTCTCTGTCTCCAATGTGTGAGAACACAATGAGAAGGCAGCTATCTACAAGCCAGGAAGGGGTCTCTCACCAGGAACTGAATCCGTGATCTTAGACTCCCAGCCTCCAGAACTGTGAGAAAATAAACGTCTATTGTTTAAGCCACCCAATGTATGGTATTTTGTTGTAGAAGCCCAAGCTGACT... | pathogenic | 44,179 |
Variant on chromosome 2, at position 151717503, affecting NEB (nebulin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Nemaline_myopathy', 'Nemaline_myopathy_2'] | CATGTGATGGTACTTGAAGGTAAGGGGATTTGGGAAGCAATTAAGTTTAGGTGAGGTCATGAGGGTGGGAACCCCATAATGAGATTATCATCCTTATAAGAAGAGGAAGAAGAGGAAGAGATCAGAGCTGGCTCTCTGTCTCCAATGTGTGAGAACACAATGAGAAGGCAGCTATCTACAAGCCAGGAAGGGGTCTCTCACCAGGAACTGAATCCGTGATCTTAGACTCCCAGCCTCCAGAACTGTGAGAAAATAAACGTCTATTGTTTAAGCCACCCAATGTATGGTATTTTGTTGTAGAAGCCCAAGCTGACTTATAT... | CATGTGATGGTACTTGAAGGTAAGGGGATTTGGGAAGCAATTAAGTTTAGGTGAGGTCATGAGGGTGGGAACCCCATAATGAGATTATCATCCTTATAAGAAGAGGAAGAAGAGGAAGAGATCAGAGCTGGCTCTCTGTCTCCAATGTGTGAGAACACAATGAGAAGGCAGCTATCTACAAGCCAGGAAGGGGTCTCTCACCAGGAACTGAATCCGTGATCTTAGACTCCCAGCCTCCAGAACTGTGAGAAAATAAACGTCTATTGTTTAAGCCACCCAATGTATGGTATTTTGTTGTAGAAGCCCAAGCTGACTTATAT... | pathogenic | 44,180 |
Variant at chromosome 2, position 151724864, gene NEB (nebulin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | TGGGATTACAGGGGTGAGTCACCACATCCAGCCACAAATATGTTTTAACAAGTACACTAGTCAGGTCCCACACACAGAAAAAGGGAGACACACCACAATTTGGACTTGATGATTAGAATAGTAAGGCACAACCCTTCCATAACATTGTTTACTTAATAGATTTGGGAAGGTGGCTATGATTACAATAGGTTTTTAAAAATTGTCATTCTGTTGTCACAGAACAACTTCAACCAGAGCCAAGGGGAAAGAAGGACTCATGCTCTAATGGGAAGAATACTAGTCTTGGGCTCACAAGCCTGGGCTCTGCCACTAACTAATGT... | TGGGATTACAGGGGTGAGTCACCACATCCAGCCACAAATATGTTTTAACAAGTACACTAGTCAGGTCCCACACACAGAAAAAGGGAGACACACCACAATTTGGACTTGATGATTAGAATAGTAAGGCACAACCCTTCCATAACATTGTTTACTTAATAGATTTGGGAAGGTGGCTATGATTACAATAGGTTTTTAAAAATTGTCATTCTGTTGTCACAGAACAACTTCAACCAGAGCCAAGGGGAAAGAAGGACTCATGCTCTAATGGGAAGAATACTAGTCTTGGGCTCACAAGCCTGGGCTCTGCCACTAACTAATGT... | pathogenic | 44,192 |
Variant in NEB (nebulin), chromosome 2, position 151724958—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy_2'] | ACAATTTGGACTTGATGATTAGAATAGTAAGGCACAACCCTTCCATAACATTGTTTACTTAATAGATTTGGGAAGGTGGCTATGATTACAATAGGTTTTTAAAAATTGTCATTCTGTTGTCACAGAACAACTTCAACCAGAGCCAAGGGGAAAGAAGGACTCATGCTCTAATGGGAAGAATACTAGTCTTGGGCTCACAAGCCTGGGCTCTGCCACTAACTAATGTGACCCCAGATTCAGGTTTGCCACCTATAAGAAGAGGGAACTGGACAAGATTATATTTAATATAAAGTGTAAATTATATCTAATTTAAATGAGAC... | ACAATTTGGACTTGATGATTAGAATAGTAAGGCACAACCCTTCCATAACATTGTTTACTTAATAGATTTGGGAAGGTGGCTATGATTACAATAGGTTTTTAAAAATTGTCATTCTGTTGTCACAGAACAACTTCAACCAGAGCCAAGGGGAAAGAAGGACTCATGCTCTAATGGGAAGAATACTAGTCTTGGGCTCACAAGCCTGGGCTCTGCCACTAACTAATGTGACCCCAGATTCAGGTTTGCCACCTATAAGAAGAGGGAACTGGACAAGATTATATTTAATATAAAGTGTAAATTATATCTAATTTAAATGAGAC... | pathogenic | 44,196 |
Regarding the variant at chromosome 2 and position 151727801, affecting gene NEB (nebulin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TGGATCTTGGAGACAATGCAAATTTATTATAGACTATTGTCTTGGAAATACCCTAAAATGATTCTTTCAATCTTTTTTTTTGTCTGAATGCATACATAAAAAGCCTAAATCTCAATTATTTTAGAAAATAAATATAGAAATTGAGTTAATTCTGAAAAGATTTGAGTGCTAATACAATGCAAAAATATTCAATTCAGAAGTTGCAGCTAAACTTCAGTAGTTCAGATAGCTGAGACACCAGCTGAATTAATGGCAGATCTGAATTATATTCTGTAAATTTAGGAATGTGATTTTATTATTTCTGCTGAATACACAATGAA... | TGGATCTTGGAGACAATGCAAATTTATTATAGACTATTGTCTTGGAAATACCCTAAAATGATTCTTTCAATCTTTTTTTTTGTCTGAATGCATACATAAAAAGCCTAAATCTCAATTATTTTAGAAAATAAATATAGAAATTGAGTTAATTCTGAAAAGATTTGAGTGCTAATACAATGCAAAAATATTCAATTCAGAAGTTGCAGCTAAACTTCAGTAGTTCAGATAGCTGAGACACCAGCTGAATTAATGGCAGATCTGAATTATATTCTGTAAATTTAGGAATGTGATTTTATTATTTCTGCTGAATACACAATGAA... | benign | 44,206 |
Does the chromosome 2 mutation at position 151727838 within gene NEB (nebulin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Arthrogryposis_multiplex_congenita_6', 'Nemaline_myopathy', 'Nemaline_myopathy_2'] | TGTCTTGGAAATACCCTAAAATGATTCTTTCAATCTTTTTTTTTGTCTGAATGCATACATAAAAAGCCTAAATCTCAATTATTTTAGAAAATAAATATAGAAATTGAGTTAATTCTGAAAAGATTTGAGTGCTAATACAATGCAAAAATATTCAATTCAGAAGTTGCAGCTAAACTTCAGTAGTTCAGATAGCTGAGACACCAGCTGAATTAATGGCAGATCTGAATTATATTCTGTAAATTTAGGAATGTGATTTTATTATTTCTGCTGAATACACAATGAATTCTTGCTTTAATGATAATGTGCATAATTTATCATTA... | TGTCTTGGAAATACCCTAAAATGATTCTTTCAATCTTTTTTTTTGTCTGAATGCATACATAAAAAGCCTAAATCTCAATTATTTTAGAAAATAAATATAGAAATTGAGTTAATTCTGAAAAGATTTGAGTGCTAATACAATGCAAAAATATTCAATTCAGAAGTTGCAGCTAAACTTCAGTAGTTCAGATAGCTGAGACACCAGCTGAATTAATGGCAGATCTGAATTATATTCTGTAAATTTAGGAATGTGATTTTATTATTTCTGCTGAATACACAATGAATTCTTGCTTTAATGATAATGTGCATAATTTATCATTA... | pathogenic | 44,208 |
Benign or pathogenic: chromosome 2, position 156329861, gene NR4A2 (nuclear receptor subfamily 4 group A member 2) variant? Disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_developmental_disorder_with_language_impairment_and_early-onset_DOPA-responsive_dystonia-parkinsonism', 'Neurodevelopmental_disorder'] | GGTTTGTCCACATGATATCCCCCCCGCCAGCTTCTTACCCTGGAATAGTCCAGGCTGGTCATAGCCGGGTTGGAGTCGACATGGGCCCTGACGAGGGCACTGATCAGACTCACCGGGGGCGAAGGGGGAGAGGGCTCCTGTGGGCTCTTCGGTTTCGAGGGCAAACGACCTCTCCGGCCTTTTAAACTGTCTGTGCGAACCACTGCAAAGGAAGAGCCCTGTTAGCGCCGCTTTTCCGAGCCCAGGCCCAGCTGCTGCCTCGGTCCCTCCCCGGGGAAGGCCGCAGCCGCGGGGCACCAGGCTGAGCGGCTGAGGGCCCC... | GGTTTGTCCACATGATATCCCCCCCGCCAGCTTCTTACCCTGGAATAGTCCAGGCTGGTCATAGCCGGGTTGGAGTCGACATGGGCCCTGACGAGGGCACTGATCAGACTCACCGGGGGCGAAGGGGGAGAGGGCTCCTGTGGGCTCTTCGGTTTCGAGGGCAAACGACCTCTCCGGCCTTTTAAACTGTCTGTGCGAACCACTGCAAAGGAAGAGCCCTGTTAGCGCCGCTTTTCCGAGCCCAGGCCCAGCTGCTGCCTCGGTCCCTCCCCGGGGAAGGCCGCAGCCGCGGGGCACCAGGCTGAGCGGCTGAGGGCCCC... | pathogenic | 44,261 |
Considering the genetic mutation at chromosome 2, position 160101838, impacting ITGB6 (integrin subunit beta 6): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GTTTTGGCCTTTCCAAGGTCCTGCCTGGGGTCAAAACAGTATTCAGAGAAAGAGCAGATTCTTCTCTACCTTCCCTAAAACACACACAAAGGTAACTTCTATTTTCTAAAATCCCATTCCAATAATAATTAAAAAAACAACAGTAAGTCCACGTAGAGGAGAGGATTGCTGTTGTGTTATCAGCATTGCAACCTGTATATTGCTGTAGATTTCCCCCAGGTTCTGCGCATCAGTCAGGAACATAAAGGGTATATCAGCCCTTCGGATTTTCAAGGTGATTTTTCAGTAATTCTTTCACCTAGCCCTGTACTCTGTAAAGG... | GTTTTGGCCTTTCCAAGGTCCTGCCTGGGGTCAAAACAGTATTCAGAGAAAGAGCAGATTCTTCTCTACCTTCCCTAAAACACACACAAAGGTAACTTCTATTTTCTAAAATCCCATTCCAATAATAATTAAAAAAACAACAGTAAGTCCACGTAGAGGAGAGGATTGCTGTTGTGTTATCAGCATTGCAACCTGTATATTGCTGTAGATTTCCCCCAGGTTCTGCGCATCAGTCAGGAACATAAAGGGTATATCAGCCCTTCGGATTTTCAAGGTGATTTTTCAGTAATTCTTTCACCTAGCCCTGTACTCTGTAAAGG... | benign | 44,363 |
The mutation in gene TBR1 (T-box brain transcription factor 1) at chromosome 2, position 161416602—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; [] | CCCGTCTCCGCCCATGCTCAGGACCCACCCAATGTCCCCAGGCGCTGCTCTCACTCCGGGAGCTGCCCCGGCCCGGGTAGGACAGACGCGCTCGCTCGAAGCCAGAGGCTCCCCCGGCTGAGGTGCCCAGGCCGCTCCTCCAGCCCGGGAAGAGCGTGTGCCCCTGGGGTCTGCGCCAGACGCAGCTCACCCCTTGCTCCTTCAGTCTCCCGGGCGGAGCCCGCCCTCGGGCCGGCCAGCTCTCGGGGCCGAGCGGAGCTCTGGGCGGCGCTCCTCCTGCTCATTCCCGCGCGGCTCGGCGTCCGGGAGGAAAGCCGCGG... | CCCGTCTCCGCCCATGCTCAGGACCCACCCAATGTCCCCAGGCGCTGCTCTCACTCCGGGAGCTGCCCCGGCCCGGGTAGGACAGACGCGCTCGCTCGAAGCCAGAGGCTCCCCCGGCTGAGGTGCCCAGGCCGCTCCTCCAGCCCGGGAAGAGCGTGTGCCCCTGGGGTCTGCGCCAGACGCAGCTCACCCCTTGCTCCTTCAGTCTCCCGGGCGGAGCCCGCCCTCGGGCCGGCCAGCTCTCGGGGCCGAGCGGAGCTCTGGGCGGCGCTCCTCCTGCTCATTCCCGCGCGGCTCGGCGTCCGGGAGGAAAGCCGCGG... | pathogenic | 44,393 |
Variant in TBR1 (T-box brain transcription factor 1), chromosome 2, position 161417689—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autistic_behavior', 'Intellectual_disability', 'Moderate_global_developmental_delay'] | AGCAGGGATTTATTTATTTATGTTTGCAGTTTAAAAGGTGGGGGTGGGGGCGCCGAGGACATGTAGGATCTGCTCACAAAGCACCAGCTCAGGTGTTGTGTGCTTTTGTATTAGCTGGAAAAGACAGACTCTGGAACTTTTACAGGGCGAGAAGAGGCCACCGGCTCGCGCTTTGTATACTTTGCACTTGAAATCGTTACATTCAACTGAATATTTGGCTCATTCAGATCCGAAAAGTCTCCTAGCATCGTCGAATTCCCTCCTCCGCCCCTCCGCTCTAAAGGGGGGAAGGGGGGGAAGGTAGGAAATGTTTAGTAAAT... | AGCAGGGATTTATTTATTTATGTTTGCAGTTTAAAAGGTGGGGGTGGGGGCGCCGAGGACATGTAGGATCTGCTCACAAAGCACCAGCTCAGGTGTTGTGTGCTTTTGTATTAGCTGGAAAAGACAGACTCTGGAACTTTTACAGGGCGAGAAGAGGCCACCGGCTCGCGCTTTGTATACTTTGCACTTGAAATCGTTACATTCAACTGAATATTTGGCTCATTCAGATCCGAAAAGTCTCCTAGCATCGTCGAATTCCCTCCTCCGCCCCTCCGCTCTAAAGGGGGGAAGGGGGGGAAGGTAGGAAATGTTTAGTAAAT... | pathogenic | 44,394 |
Chromosome 2, position 161423547, gene TBR1 (T-box brain transcription factor 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autistic_behavior', 'Intellectual_disability', 'Moderate_global_developmental_delay'] | AGTATATGGCTCAAGAGACTAGAGATGTTAGAGGAGAGTCCTGTAGATTTTGAGATTTTAATTCTGTTGTGAACATCTGTTCAAAAGCATTTTATTTTGCACAAATCAATTCAGTAATCCCAAGTGGGTGGGACCTGGATAGGCATCTAAACTGTATCTTTTGCGGACTGCTTTTTTCTTTTTAAAATATTGTGGTGATAAACAGAGAAGATATTTGCACCTTGCTAGTTATGTTCCCTTCCTGCCTCCCTCTACTTCTCTTATTTGAAACTGGAATTCAATTTCAGAAGGGAAATTTTGTGCACTAAACAGAACGGACC... | AGTATATGGCTCAAGAGACTAGAGATGTTAGAGGAGAGTCCTGTAGATTTTGAGATTTTAATTCTGTTGTGAACATCTGTTCAAAAGCATTTTATTTTGCACAAATCAATTCAGTAATCCCAAGTGGGTGGGACCTGGATAGGCATCTAAACTGTATCTTTTGCGGACTGCTTTTTTCTTTTTAAAATATTGTGGTGATAAACAGAGAAGATATTTGCACCTTGCTAGTTATGTTCCCTTCCTGCCTCCCTCTACTTCTCTTATTTGAAACTGGAATTCAATTTCAGAAGGGAAATTTTGTGCACTAAACAGAACGGACC... | pathogenic | 44,401 |
Variant on chromosome 2, at position 161423752, affecting TBR1: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Abnormal_brainstem_MRI_signal_intensity', 'Autism,_susceptibility_to,_5', 'Autistic_behavior', 'Delayed_fine_motor_development', 'Focal_cortical_dysplasia', 'Gait_ataxia', 'Hypoplasia_of_the_frontal_lobes', 'Inborn_genetic_diseases', 'Intellectual_developmental_disorder_with_speech_delay,_autism,_and_dysm... | AGAAGATATTTGCACCTTGCTAGTTATGTTCCCTTCCTGCCTCCCTCTACTTCTCTTATTTGAAACTGGAATTCAATTTCAGAAGGGAAATTTTGTGCACTAAACAGAACGGACCTGAGCAGCCACAGCAAAACTCTCACATGCCCCTCCTCCTCTGGCTGCCTTCTGTTGGAAAAGCCACTCCTCTTTGATCTTAAATCACTTTAAATCTTTCATAAAAGCTTCTTTATCTATACACACACACACACACACACACACACACAAACCTGAGATTTTTAGGGGACAGAGAAGAGTTGAGTGGTTCATGACACTCTTCCTTT... | AGAAGATATTTGCACCTTGCTAGTTATGTTCCCTTCCTGCCTCCCTCTACTTCTCTTATTTGAAACTGGAATTCAATTTCAGAAGGGAAATTTTGTGCACTAAACAGAACGGACCTGAGCAGCCACAGCAAAACTCTCACATGCCCCTCCTCCTCTGGCTGCCTTCTGTTGGAAAAGCCACTCCTCTTTGATCTTAAATCACTTTAAATCTTTCATAAAAGCTTCTTTATCTATACACACACACACACACACACACACACACAAACCTGAGATTTTTAGGGGACAGAGAAGAGTTGAGTGGTTCATGACACTCTTCCTTT... | pathogenic | 44,403 |
Variant in TBR1 (T-box brain transcription factor 1), chromosome 2, position 161423829—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autistic_behavior', 'Intellectual_disability', 'Severe_global_developmental_delay'] | TTCAGAAGGGAAATTTTGTGCACTAAACAGAACGGACCTGAGCAGCCACAGCAAAACTCTCACATGCCCCTCCTCCTCTGGCTGCCTTCTGTTGGAAAAGCCACTCCTCTTTGATCTTAAATCACTTTAAATCTTTCATAAAAGCTTCTTTATCTATACACACACACACACACACACACACACACAAACCTGAGATTTTTAGGGGACAGAGAAGAGTTGAGTGGTTCATGACACTCTTCCTTTCCCCTTTTACGTTGGTTACTTGGACATGGCTCAATTTTGGAGAAAGAGGGAGAAGTATAAGGGTTCATGGGGTACTA... | TTCAGAAGGGAAATTTTGTGCACTAAACAGAACGGACCTGAGCAGCCACAGCAAAACTCTCACATGCCCCTCCTCCTCTGGCTGCCTTCTGTTGGAAAAGCCACTCCTCTTTGATCTTAAATCACTTTAAATCTTTCATAAAAGCTTCTTTATCTATACACACACACACACACACACACACACACAAACCTGAGATTTTTAGGGGACAGAGAAGAGTTGAGTGGTTCATGACACTCTTCCTTTCCCCTTTTACGTTGGTTACTTGGACATGGCTCAATTTTGGAGAAAGAGGGAGAAGTATAAGGGTTCATGGGGTACTA... | pathogenic | 44,405 |
The mutation impacting SLC4A10 (solute carrier family 4 member 10) on chromosome 2 at position 161903995: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCTTTCTCAGGTGTAACATGCCACATAGCTTAGATTTTTTTCGAAGTTCACTTTTCCTTACTGCTTCCTAAATCCTCCCAGGTCACCAATATCCGGTATCTTCGCTTCTCCAGAGTTCTTCCACAGATTCTGTTGCTGACATGACTTGAAGTATCCATTACTCATCTGCTCTCCTGGAGTTGCTGGTGTACATCTGGGCTGCTCTTGCACTGTTCTCTGTAATGAACTCCCACTTCCGGATTTAGATTTTTACTGCTAAAAGCACATTTATTACACAGTACTATAACAACTATTCAGACTAATGTATGCTCTAATAAGTA... | TCTTTCTCAGGTGTAACATGCCACATAGCTTAGATTTTTTTCGAAGTTCACTTTTCCTTACTGCTTCCTAAATCCTCCCAGGTCACCAATATCCGGTATCTTCGCTTCTCCAGAGTTCTTCCACAGATTCTGTTGCTGACATGACTTGAAGTATCCATTACTCATCTGCTCTCCTGGAGTTGCTGGTGTACATCTGGGCTGCTCTTGCACTGTTCTCTGTAATGAACTCCCACTTCCGGATTTAGATTTTTACTGCTAAAAGCACATTTATTACACAGTACTATAACAACTATTCAGACTAATGTATGCTCTAATAAGTA... | benign | 44,408 |
Gene IFIH1 (interferon induced with helicase C domain 1) variant at chromosome position 162273931 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AATTAAAAAACTGTGCCTTTACAAACAAATTGGATCAAACCAAAATTACCATGTTGGATTGAATCAGTGAGTTGCAGCAGTCTTTCTGGAACAAGGCAGGCTAAATTTATATTATCCAAATTTATGGTTGGTTTTACTGGAATGAGGAATGGCTCCCTGATAATTTCCTGCCCACCATGGATCTTGATTCTCTGCATGTGAATCTGGATTAAGCACAGTTCACTAAACAGAAACTTATAATTCAGCACAATTTTTGTCTGGAGAATGAGTCACAGAGATATCAATGGCAACCACATGCCGCCATTTTTAAATGAAAATCA... | AATTAAAAAACTGTGCCTTTACAAACAAATTGGATCAAACCAAAATTACCATGTTGGATTGAATCAGTGAGTTGCAGCAGTCTTTCTGGAACAAGGCAGGCTAAATTTATATTATCCAAATTTATGGTTGGTTTTACTGGAATGAGGAATGGCTCCCTGATAATTTCCTGCCCACCATGGATCTTGATTCTCTGCATGTGAATCTGGATTAAGCACAGTTCACTAAACAGAAACTTATAATTCAGCACAATTTTTGTCTGGAGAATGAGTCACAGAGATATCAATGGCAACCACATGCCGCCATTTTTAAATGAAAATCA... | benign | 44,458 |
Evaluate this variant at chromosome 2, position 162277435, gene IFIH1 (interferon induced with helicase C domain 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TCAACACAGAGGCTGTGAGACTGAACTTGAGTTTTTCCTGCTAGCTTTCTGGAAGCTAAGGCAAAAAGAAAAACATATAAAGCAAACTACATCTCATCAAAAAGAAGGAAGCAAACTTGTTACCCAAGGAAAACAGTACTTTCTCTGGCATTAATTTTATTGGCAATGCTCACAGGAGTGCATGTAGAGGGTATATAAAGAGTTATAGTGAACCATTTCAAGAATTTTTTTCCAGCAAACACTGAAACAGAATTAATTTGCTCCATTGGCTTGAATAGTGATAACTATAATAGAAAGGAAGTATCCATTTGTCCAGAAAG... | TCAACACAGAGGCTGTGAGACTGAACTTGAGTTTTTCCTGCTAGCTTTCTGGAAGCTAAGGCAAAAAGAAAAACATATAAAGCAAACTACATCTCATCAAAAAGAAGGAAGCAAACTTGTTACCCAAGGAAAACAGTACTTTCTCTGGCATTAATTTTATTGGCAATGCTCACAGGAGTGCATGTAGAGGGTATATAAAGAGTTATAGTGAACCATTTCAAGAATTTTTTTCCAGCAAACACTGAAACAGAATTAATTTGCTCCATTGGCTTGAATAGTGATAACTATAATAGAAAGGAAGTATCCATTTGTCCAGAAAG... | benign | 44,471 |
Clinical classification of chromosome 2, position 162282341, gene IFIH1 (interferon induced with helicase C domain 1): benign or pathogenic? Disease(s) if pathogenic? | benign | TTATTATGGATCTCATTAACCCACAATCAGCAACATTTGTCCTAATATAGGAAAAAGGAGCTTCTAAATCAAGTTGGTGTAATAACAGAGAAAAAGGTGTATTGATATTCATTCCTTAAATTCCATTTTCCAAGTGGAAAACTGACATGGAAAGAGTATAACAATTTACCATCATTGACAGAGAATGATTTTGAGATAACCATGTTACATGAGGCATATCAAAGGTCAACTTGACATCCGTGGATCATACTACCACCTTCTTCTACACATAAAGCAGGCATCTACACATAAAGCTGGGAGCATCCTTAGTCATGTTCCTT... | TTATTATGGATCTCATTAACCCACAATCAGCAACATTTGTCCTAATATAGGAAAAAGGAGCTTCTAAATCAAGTTGGTGTAATAACAGAGAAAAAGGTGTATTGATATTCATTCCTTAAATTCCATTTTCCAAGTGGAAAACTGACATGGAAAGAGTATAACAATTTACCATCATTGACAGAGAATGATTTTGAGATAACCATGTTACATGAGGCATATCAAAGGTCAACTTGACATCCGTGGATCATACTACCACCTTCTTCTACACATAAAGCAGGCATCTACACATAAAGCTGGGAGCATCCTTAGTCATGTTCCTT... | benign | 44,488 |
The mutation in gene IFIH1 (interferon induced with helicase C domain 1) at chromosome 2, position 162288032—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GGCAAATGCGGTCATAAGCTGGGTGTCATATCTCATGTCTCCTACGCTCTGCACTGGTATGATCTTATCTGTAGTATTTTGCCCAACTCTGGACACCGCATTTAAGAGTGTCCCAGAAAAATGTCTGAAGGAGTATGAGCACTAGGAATGATGACAGGTTTAGAAACCATGTTATATGGAAAACAGTTAAAGGAACTGTGGACATTTATTCCAAGGAACAACAAAAAAAAGTAACTTAGGAGCCACATGATGCTGCCTTGTCTATGTGAAGGGCTGTCATTAGGCTGGAGAATTAGGACTTCGTGTGGTTGCAGAGGAAG... | GGCAAATGCGGTCATAAGCTGGGTGTCATATCTCATGTCTCCTACGCTCTGCACTGGTATGATCTTATCTGTAGTATTTTGCCCAACTCTGGACACCGCATTTAAGAGTGTCCCAGAAAAATGTCTGAAGGAGTATGAGCACTAGGAATGATGACAGGTTTAGAAACCATGTTATATGGAAAACAGTTAAAGGAACTGTGGACATTTATTCCAAGGAACAACAAAAAAAAGTAACTTAGGAGCCACATGATGCTGCCTTGTCTATGTGAAGGGCTGTCATTAGGCTGGAGAATTAGGACTTCGTGTGGTTGCAGAGGAAG... | benign | 44,491 |
Considering the genetic mutation at chromosome 2, position 165131225, impacting SCN3A (sodium voltage-gated channel alpha subunit 3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GCCCAATATGATGGCATAAAGAAATGCTTTGCCCACGCATGACTGAGAAATTTAAGCATTAAACATATAAATATATAAACTATGCTTTTGCATTAGTGATTTTAAGTCACAGTTAAAAGTAACTCCTTTGAGTCTGGACAATGTCCATACATATGAATAATTTAAACTGTAATAATTGGTTTTCCTATAGTAATGCAAATTCAGGGAAGAAAACATTTTGTCCTCTTCCAAGTTACTTGGATAATTACAATGCATAGCTAAAATATAATGGTCTACTTCATTGAAATGTGTCTTCAAAATTTGGTACTATGCAACCTATG... | GCCCAATATGATGGCATAAAGAAATGCTTTGCCCACGCATGACTGAGAAATTTAAGCATTAAACATATAAATATATAAACTATGCTTTTGCATTAGTGATTTTAAGTCACAGTTAAAAGTAACTCCTTTGAGTCTGGACAATGTCCATACATATGAATAATTTAAACTGTAATAATTGGTTTTCCTATAGTAATGCAAATTCAGGGAAGAAAACATTTTGTCCTCTTCCAAGTTACTTGGATAATTACAATGCATAGCTAAAATATAATGGTCTACTTCATTGAAATGTGTCTTCAAAATTTGGTACTATGCAACCTATG... | benign | 44,556 |
Is the chromosome 2, position 165162254 variant in SCN3A (sodium voltage-gated channel alpha subunit 3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CTTTGGGAGGCCGAGGCAGGTGAATCATTTGAGATCAGGCTCCCACTGATTCTACATTATGGTGACTTGTACAATTATTTCATTATATATTACAGTATGCTAATAATATAAATAATGTACACAATAAATGTAACGTGCTTGAATCATCCTGAAATCATTTCCCACCACCACCCTTGGTCGGTGGAAAAATTGTCTTCCACAAAACAGTCCCTGGTGCCAAAAAGGCTGGGGACTGTTGATGTAAATTACTTAAGCCATAATAGGAATTCATTAAGGGGAATAGATTATTATGGTTTAATAGGAATAAAGTATGTATTAAC... | CTTTGGGAGGCCGAGGCAGGTGAATCATTTGAGATCAGGCTCCCACTGATTCTACATTATGGTGACTTGTACAATTATTTCATTATATATTACAGTATGCTAATAATATAAATAATGTACACAATAAATGTAACGTGCTTGAATCATCCTGAAATCATTTCCCACCACCACCCTTGGTCGGTGGAAAAATTGTCTTCCACAAAACAGTCCCTGGTGCCAAAAAGGCTGGGGACTGTTGATGTAAATTACTTAAGCCATAATAGGAATTCATTAAGGGGAATAGATTATTATGGTTTAATAGGAATAAAGTATGTATTAAC... | benign | 44,583 |
Does the genetic variant at chromosome 2, position 165162381, impacting gene SCN3A (sodium voltage-gated channel alpha subunit 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | ATGTAACGTGCTTGAATCATCCTGAAATCATTTCCCACCACCACCCTTGGTCGGTGGAAAAATTGTCTTCCACAAAACAGTCCCTGGTGCCAAAAAGGCTGGGGACTGTTGATGTAAATTACTTAAGCCATAATAGGAATTCATTAAGGGGAATAGATTATTATGGTTTAATAGGAATAAAGTATGTATTAACCAAATTTATCCAAAATTTTATCTGGGCTTTTATGTTAATCATCATCATAATAAATAATAGTTAATAGGCAATAAATTCTTTTCTTTTTTTAGAGTGTGCTTTTTTTTTAAATTTATTAAAAAAATTT... | ATGTAACGTGCTTGAATCATCCTGAAATCATTTCCCACCACCACCCTTGGTCGGTGGAAAAATTGTCTTCCACAAAACAGTCCCTGGTGCCAAAAAGGCTGGGGACTGTTGATGTAAATTACTTAAGCCATAATAGGAATTCATTAAGGGGAATAGATTATTATGGTTTAATAGGAATAAAGTATGTATTAACCAAATTTATCCAAAATTTTATCTGGGCTTTTATGTTAATCATCATCATAATAAATAATAGTTAATAGGCAATAAATTCTTTTCTTTTTTTAGAGTGTGCTTTTTTTTTAAATTTATTAAAAAAATTT... | benign | 44,584 |
Variant on chromosome 2, at position 165164407, affecting SCN3A (sodium voltage-gated channel alpha subunit 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | ACATAAAAGTGACCTGTTAATACAAAAAAAAACCCATTTTATTTCATATTAATCCTATTCACATTAGTATTAGTAATAAATCAGAGTTGGACTATTTCAGTTATTTACAAAGGTGGCTGTACACCCACAGTCTCAACTATTTATAGTTGAAAATTCATTCAGCAACACTAAGGTTAACATAATGTAATACTTCTTACTGTCATCTCCAATGTAATCCTTCCAGTTAAATGTGCTCATTGTTACATTAACAAATGTCCCATTTGAATCCATTGTGCCATTAAAGTAGGAAGTGGTGTTGGTTTCAAAAGCAGAATCGCTTG... | ACATAAAAGTGACCTGTTAATACAAAAAAAAACCCATTTTATTTCATATTAATCCTATTCACATTAGTATTAGTAATAAATCAGAGTTGGACTATTTCAGTTATTTACAAAGGTGGCTGTACACCCACAGTCTCAACTATTTATAGTTGAAAATTCATTCAGCAACACTAAGGTTAACATAATGTAATACTTCTTACTGTCATCTCCAATGTAATCCTTCCAGTTAAATGTGCTCATTGTTACATTAACAAATGTCCCATTTGAATCCATTGTGCCATTAAAGTAGGAAGTGGTGTTGGTTTCAAAAGCAGAATCGCTTG... | pathogenic | 44,593 |
A genetic alteration at chromosome 2, position 165176265, in gene SCN3A (sodium voltage-gated channel alpha subunit 3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | ATTTATTTACAATGAGATACATTACTTTCATATGGACTGAGATAATTGTAGTGATGTAATGAGCACGTTCTTTTCTTCAAGCAGGTTTAGGGGAAAACAAATTGTAGTCAGAAGGTTTCTTGCTGAATATGGAGCCCAAGCCAGCTGACCTAATCAAATGATGTGGAATGTTTAATAGCATGTGTTAGGTAGTTCAGTGTAGCCCCTCCACAATGAGGTGGCCTGGCCATTGGGAAGAAAATGCTTTCAGTGCTACTACTAAAGTTCTGTCTCCCTTGGAAAATAGTAACGTTTGCCTCTGTTGTTCTCCTTTTGTTTCC... | ATTTATTTACAATGAGATACATTACTTTCATATGGACTGAGATAATTGTAGTGATGTAATGAGCACGTTCTTTTCTTCAAGCAGGTTTAGGGGAAAACAAATTGTAGTCAGAAGGTTTCTTGCTGAATATGGAGCCCAAGCCAGCTGACCTAATCAAATGATGTGGAATGTTTAATAGCATGTGTTAGGTAGTTCAGTGTAGCCCCTCCACAATGAGGTGGCCTGGCCATTGGGAAGAAAATGCTTTCAGTGCTACTACTAAAGTTCTGTCTCCCTTGGAAAATAGTAACGTTTGCCTCTGTTGTTCTCCTTTTGTTTCC... | benign | 44,605 |
Variant at chromosome position 165315615, chromosome 2, gene SCN2A (sodium voltage-gated channel alpha subunit 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_11', 'Inborn_genetic_diseases', 'Seizures,_benign_familial_infantile,_3'] | ATTAGCAGACTTGCCGTTATTGACTTCCTTTCTTTCCTCTAACCTAATTATAGCCAGTGTCCTGAAGGATACATCTGTGTGAAGGCTGGTAGAAACCCCAACTATGGCTACACGAGCTTTGACACCTTTAGTTGGGCCTTTTTGTCCTTATTTCGTCTCATGACTCAAGACTTCTGGGAAAACCTTTATCAACTGGTGAGAACAGATAAAATCATTTTTCTGAGAATCATAAAACACCGAACTCAAGAGAATTGCTGTAGAATATTTTATTACTTAGAGTGTAAGTTTGTAACATCCTATATAAAATTTATTAAAATCTC... | ATTAGCAGACTTGCCGTTATTGACTTCCTTTCTTTCCTCTAACCTAATTATAGCCAGTGTCCTGAAGGATACATCTGTGTGAAGGCTGGTAGAAACCCCAACTATGGCTACACGAGCTTTGACACCTTTAGTTGGGCCTTTTTGTCCTTATTTCGTCTCATGACTCAAGACTTCTGGGAAAACCTTTATCAACTGGTGAGAACAGATAAAATCATTTTTCTGAGAATCATAAAACACCGAACTCAAGAGAATTGCTGTAGAATATTTTATTACTTAGAGTGTAAGTTTGTAACATCCTATATAAAATTTATTAAAATCTC... | pathogenic | 44,689 |
The chromosome 2, position 165323211 genetic variant in gene SCN2A (sodium voltage-gated channel alpha subunit 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_11', 'Seizures,_benign_familial_infantile,_3'] | AAATGCCACCAGTCTCTTTGCTAAAATATAACAAGAGTCACCTTTGCTCCATTTCCCAACAAGTTCCTCATCTCCATGAGAGACCACTTTAGCCTGGACCTTATTGTCCATATTGCCATCAGGCTTTTGGTCAAAGCCATTCAATAAGTCTCTAGAAAGTTCCAAACTTTCTCACATTTTCCTGTGTTCTTCCGAGCCCTCCAAACTGTTCCATCCTCTGCCTGTTATCCAGTTCCAAAGCTGCTTCCACATTTTTGGGTATCTTTTCAGCAGCGTCCCACTCCTGGTATCAATTTACTGTATTAATCTGTTTTCATGCT... | AAATGCCACCAGTCTCTTTGCTAAAATATAACAAGAGTCACCTTTGCTCCATTTCCCAACAAGTTCCTCATCTCCATGAGAGACCACTTTAGCCTGGACCTTATTGTCCATATTGCCATCAGGCTTTTGGTCAAAGCCATTCAATAAGTCTCTAGAAAGTTCCAAACTTTCTCACATTTTCCTGTGTTCTTCCGAGCCCTCCAAACTGTTCCATCCTCTGCCTGTTATCCAGTTCCAAAGCTGCTTCCACATTTTTGGGTATCTTTTCAGCAGCGTCCCACTCCTGGTATCAATTTACTGTATTAATCTGTTTTCATGCT... | pathogenic | 44,704 |
Clinical significance of chromosome 2, position 165323310, gene SCN2A (sodium voltage-gated channel alpha subunit 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_11', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Seizures,_benign_familial_infantile,_3'] | CTTATTGTCCATATTGCCATCAGGCTTTTGGTCAAAGCCATTCAATAAGTCTCTAGAAAGTTCCAAACTTTCTCACATTTTCCTGTGTTCTTCCGAGCCCTCCAAACTGTTCCATCCTCTGCCTGTTATCCAGTTCCAAAGCTGCTTCCACATTTTTGGGTATCTTTTCAGCAGCGTCCCACTCCTGGTATCAATTTACTGTATTAATCTGTTTTCATGCTGCTGATAAAGACATACCTGAGACTGGGCAATTTACCAAAGAAAGACATTTAATTGGACTTACAGTTCCATGTGGCTGGGGAAGCCTCACAATCATGGCA... | CTTATTGTCCATATTGCCATCAGGCTTTTGGTCAAAGCCATTCAATAAGTCTCTAGAAAGTTCCAAACTTTCTCACATTTTCCTGTGTTCTTCCGAGCCCTCCAAACTGTTCCATCCTCTGCCTGTTATCCAGTTCCAAAGCTGCTTCCACATTTTTGGGTATCTTTTCAGCAGCGTCCCACTCCTGGTATCAATTTACTGTATTAATCTGTTTTCATGCTGCTGATAAAGACATACCTGAGACTGGGCAATTTACCAAAGAAAGACATTTAATTGGACTTACAGTTCCATGTGGCTGGGGAAGCCTCACAATCATGGCA... | pathogenic | 44,708 |
For chromosome 2, position 165323455, gene SCN2A (sodium voltage-gated channel alpha subunit 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_11', 'SCN2A-related_disorder', 'Seizures,_benign_familial_infantile,_3'] | TTCCACATTTTTGGGTATCTTTTCAGCAGCGTCCCACTCCTGGTATCAATTTACTGTATTAATCTGTTTTCATGCTGCTGATAAAGACATACCTGAGACTGGGCAATTTACCAAAGAAAGACATTTAATTGGACTTACAGTTCCATGTGGCTGGGGAAGCCTCACAATCATGGCAGAAGGCAAAGAGGAGCAAGTCACATCTTACATGGATGGTGTCAGGCAAAGAGAGAGTGAGAGCCAAGTGAAAGGGATTTCTCCCCATAAAATCATTAGATCTCATGAGACTTATTCACTACCATGAGAACAGTATGGAGAAAACT... | TTCCACATTTTTGGGTATCTTTTCAGCAGCGTCCCACTCCTGGTATCAATTTACTGTATTAATCTGTTTTCATGCTGCTGATAAAGACATACCTGAGACTGGGCAATTTACCAAAGAAAGACATTTAATTGGACTTACAGTTCCATGTGGCTGGGGAAGCCTCACAATCATGGCAGAAGGCAAAGAGGAGCAAGTCACATCTTACATGGATGGTGTCAGGCAAAGAGAGAGTGAGAGCCAAGTGAAAGGGATTTCTCCCCATAAAATCATTAGATCTCATGAGACTTATTCACTACCATGAGAACAGTATGGAGAAAACT... | pathogenic | 44,717 |
Does the chromosome 2 mutation at position 165327155 within gene SCN2A (sodium voltage-gated channel alpha subunit 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TGATAAATGTTAATTGGGTAAACAAAAGCAAATCTACAATTACCATGCAGGAATACAGACAGACTGTCAGTCTGTCAGAAATTATTTAGCATTTATCAATAATTATCATAAATCTCCTGTCCTATCAGAGATGATGGGACAAATCGCTGAAGGCAAAGTTGGGGCCAGCTTGAAGCAAAGCTTTGTGTGGTCCCTTTATTTCCTGCTTCCTCAACTTCATTCTTTAATCTTACAATCTTAAGTGCTTTGAGGCAGGGCACTGTACTATTGCAAAGTTGAGCTGAAGGTGCAAACAAATGAAGTAGGCTTTTGGAGAATGC... | TGATAAATGTTAATTGGGTAAACAAAAGCAAATCTACAATTACCATGCAGGAATACAGACAGACTGTCAGTCTGTCAGAAATTATTTAGCATTTATCAATAATTATCATAAATCTCCTGTCCTATCAGAGATGATGGGACAAATCGCTGAAGGCAAAGTTGGGGCCAGCTTGAAGCAAAGCTTTGTGTGGTCCCTTTATTTCCTGCTTCCTCAACTTCATTCTTTAATCTTACAATCTTAAGTGCTTTGAGGCAGGGCACTGTACTATTGCAAAGTTGAGCTGAAGGTGCAAACAAATGAAGTAGGCTTTTGGAGAATGC... | benign | 44,732 |
A mutation at chromosome position 165365059 on chromosome 2 in gene SCN2A (sodium voltage-gated channel alpha subunit 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CAGATACTTGGCAGCAGGAGTGATAATTGATGTTACAGGAATCCTATGTAAACTTTTGCACATTTTAATGAAGATTTTCTATAATATGCTGTCTGGTGACTTCTCCCAATCACTGTCAAGGGCTAGACTTCATTATTTTAAGATGTCTTTCATTCATTTATTCACTCACTCATTCTTTTTTTTAAGCAAAATTTATTAAGACCTGTAACATACTTAGCACTGATGTAAGCTCTGATACAGTCATTCAGTAATGTCAGCCTGAGCATTTGCAGAACCCTGAATATGGATCCTCATTTTTCCCTTGGGGTCACCCGAAGTCT... | CAGATACTTGGCAGCAGGAGTGATAATTGATGTTACAGGAATCCTATGTAAACTTTTGCACATTTTAATGAAGATTTTCTATAATATGCTGTCTGGTGACTTCTCCCAATCACTGTCAAGGGCTAGACTTCATTATTTTAAGATGTCTTTCATTCATTTATTCACTCACTCATTCTTTTTTTTAAGCAAAATTTATTAAGACCTGTAACATACTTAGCACTGATGTAAGCTCTGATACAGTCATTCAGTAATGTCAGCCTGAGCATTTGCAGAACCCTGAATATGGATCCTCATTTTTCCCTTGGGGTCACCCGAAGTCT... | benign | 44,793 |
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