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 |
|---|---|---|---|---|---|
Is the genetic mutation found on chromosome 2 at position 178605139, within the gene TTN, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | AATTACAGAAATTCTTTTACTGTACTTGTCTTTTTAATCTTAACTTTTCCCCCTCCAGTGGTTAATATAGATCCTTGCACAAAGCACATGTTCAATACTAGTTTGCAAATGAATGAATAACTACCTCATTATATAGGTATATATGCTCCACATAGCACTTGAGTATTTAAAATTTTCTTTTTAACAAATAATTGAATTTTTCTTCTATAGAGAATCTAATCAGATATGTAGCAAATAGGATGAATTATTATGGCCACAGTATTTTTTAATTTTTGAACGAATCTGCTCACAGATCTTTTAGAAGAATTTTTCTCTCTTAT... | AATTACAGAAATTCTTTTACTGTACTTGTCTTTTTAATCTTAACTTTTCCCCCTCCAGTGGTTAATATAGATCCTTGCACAAAGCACATGTTCAATACTAGTTTGCAAATGAATGAATAACTACCTCATTATATAGGTATATATGCTCCACATAGCACTTGAGTATTTAAAATTTTCTTTTTAACAAATAATTGAATTTTTCTTCTATAGAGAATCTAATCAGATATGTAGCAAATAGGATGAATTATTATGGCCACAGTATTTTTTAATTTTTGAACGAATCTGCTCACAGATCTTTTAGAAGAATTTTTCTCTCTTAT... | pathogenic | 49,822 |
Classify the chromosome 2 variant at position 178605153 affecting gene TTN as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TTTTACTGTACTTGTCTTTTTAATCTTAACTTTTCCCCCTCCAGTGGTTAATATAGATCCTTGCACAAAGCACATGTTCAATACTAGTTTGCAAATGAATGAATAACTACCTCATTATATAGGTATATATGCTCCACATAGCACTTGAGTATTTAAAATTTTCTTTTTAACAAATAATTGAATTTTTCTTCTATAGAGAATCTAATCAGATATGTAGCAAATAGGATGAATTATTATGGCCACAGTATTTTTTAATTTTTGAACGAATCTGCTCACAGATCTTTTAGAAGAATTTTTCTCTCTTATTTGACCTCACAGAC... | TTTTACTGTACTTGTCTTTTTAATCTTAACTTTTCCCCCTCCAGTGGTTAATATAGATCCTTGCACAAAGCACATGTTCAATACTAGTTTGCAAATGAATGAATAACTACCTCATTATATAGGTATATATGCTCCACATAGCACTTGAGTATTTAAAATTTTCTTTTTAACAAATAATTGAATTTTTCTTCTATAGAGAATCTAATCAGATATGTAGCAAATAGGATGAATTATTATGGCCACAGTATTTTTTAATTTTTGAACGAATCTGCTCACAGATCTTTTAGAAGAATTTTTCTCTCTTATTTGACCTCACAGAC... | pathogenic | 49,824 |
Is the genetic variant on chromosome 2, position 178605258, gene TTN, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Primary_dilated_cardiomyopathy', 'TTN-related_myopathy'] | ACTACCTCATTATATAGGTATATATGCTCCACATAGCACTTGAGTATTTAAAATTTTCTTTTTAACAAATAATTGAATTTTTCTTCTATAGAGAATCTAATCAGATATGTAGCAAATAGGATGAATTATTATGGCCACAGTATTTTTTAATTTTTGAACGAATCTGCTCACAGATCTTTTAGAAGAATTTTTCTCTCTTATTTGACCTCACAGACTATGCCTGAGAATCCTAAATCTTTGTTCAATAATATTATAGAAAAGCTAACAACATTCTGTTTTTTGTTGAATTCCTACTGGAAGGTCTGACTGTTTAGTGGGAG... | ACTACCTCATTATATAGGTATATATGCTCCACATAGCACTTGAGTATTTAAAATTTTCTTTTTAACAAATAATTGAATTTTTCTTCTATAGAGAATCTAATCAGATATGTAGCAAATAGGATGAATTATTATGGCCACAGTATTTTTTAATTTTTGAACGAATCTGCTCACAGATCTTTTAGAAGAATTTTTCTCTCTTATTTGACCTCACAGACTATGCCTGAGAATCCTAAATCTTTGTTCAATAATATTATAGAAAAGCTAACAACATTCTGTTTTTTGTTGAATTCCTACTGGAAGGTCTGACTGTTTAGTGGGAG... | pathogenic | 49,828 |
Variant at chromosome 2, position 178605678, gene TTN: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AATATTTGGTTTAATCCAAGAGTTTACAAACTGTATGATTTTATGTATGTGTGTATGTATATATCTGTGCATGTATGTATACACACATAAATATATACTTCCGATAGTCTATGTGAACATGAACCTTTTTTATTTTAATAAATAAAATAATTTGGCATAGAAAAATATAAGAAATTTAAGGCAGAATTATCCATTTAGTGACTTTGTGCTTTAGAAATTAGTCCCCAGAAACGGAAGCATACTTACATATGGGATCTCCTGCAACCTCTGGATCTGATGGTTCACTGGGAGGACCAATTCCTGCAGCATTTATTGCCATG... | AATATTTGGTTTAATCCAAGAGTTTACAAACTGTATGATTTTATGTATGTGTGTATGTATATATCTGTGCATGTATGTATACACACATAAATATATACTTCCGATAGTCTATGTGAACATGAACCTTTTTTATTTTAATAAATAAAATAATTTGGCATAGAAAAATATAAGAAATTTAAGGCAGAATTATCCATTTAGTGACTTTGTGCTTTAGAAATTAGTCCCCAGAAACGGAAGCATACTTACATATGGGATCTCCTGCAACCTCTGGATCTGATGGTTCACTGGGAGGACCAATTCCTGCAGCATTTATTGCCATG... | pathogenic | 49,838 |
Variant in TTN, chromosome 2, position 178607189—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | ATCAGTGGGTTTTTCAATTACAGTTTCATTTTTGGACCATTCAATCTTAGGCATTGGAAGGCCTGTCACATCTGCAGGGATGTGGACAGGCTCTCCTGCCTTAACTTTGATAGTGTCTCCTCGAACACTCAGACGCAACTTAATAGTTGGAGGCACTGCAAAGAGAAGAGAAAGAAAAACAGTAACAAAGTCATAAGGATGTTTTTTTCAACTTATGGGATAAAGGCACACTGTAAAATGCATTAAAATTATTATTATATTCAGATTCCGCACCTTCATCATCTTGTATGACTACATTAAGAGGTAGGGATGGTTCACTT... | ATCAGTGGGTTTTTCAATTACAGTTTCATTTTTGGACCATTCAATCTTAGGCATTGGAAGGCCTGTCACATCTGCAGGGATGTGGACAGGCTCTCCTGCCTTAACTTTGATAGTGTCTCCTCGAACACTCAGACGCAACTTAATAGTTGGAGGCACTGCAAAGAGAAGAGAAAGAAAAACAGTAACAAAGTCATAAGGATGTTTTTTTCAACTTATGGGATAAAGGCACACTGTAAAATGCATTAAAATTATTATTATATTCAGATTCCGCACCTTCATCATCTTGTATGACTACATTAAGAGGTAGGGATGGTTCACTT... | pathogenic | 49,850 |
Evaluate the clinical significance of the mutation at chromosome 2, position 178607208 in gene TTN: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_dominant_titinopathy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Autosomal_recessive_titinopathy', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Hypertrophic_cardiomyopathy_9', 'Primary_dilated_cardiomyopathy', 'TTN-related_myopathy'] | ACAGTTTCATTTTTGGACCATTCAATCTTAGGCATTGGAAGGCCTGTCACATCTGCAGGGATGTGGACAGGCTCTCCTGCCTTAACTTTGATAGTGTCTCCTCGAACACTCAGACGCAACTTAATAGTTGGAGGCACTGCAAAGAGAAGAGAAAGAAAAACAGTAACAAAGTCATAAGGATGTTTTTTTCAACTTATGGGATAAAGGCACACTGTAAAATGCATTAAAATTATTATTATATTCAGATTCCGCACCTTCATCATCTTGTATGACTACATTAAGAGGTAGGGATGGTTCACTTTCACCAATTTCATTGACAG... | ACAGTTTCATTTTTGGACCATTCAATCTTAGGCATTGGAAGGCCTGTCACATCTGCAGGGATGTGGACAGGCTCTCCTGCCTTAACTTTGATAGTGTCTCCTCGAACACTCAGACGCAACTTAATAGTTGGAGGCACTGCAAAGAGAAGAGAAAGAAAAACAGTAACAAAGTCATAAGGATGTTTTTTTCAACTTATGGGATAAAGGCACACTGTAAAATGCATTAAAATTATTATTATATTCAGATTCCGCACCTTCATCATCTTGTATGACTACATTAAGAGGTAGGGATGGTTCACTTTCACCAATTTCATTGACAG... | pathogenic | 49,851 |
Gene mutation in TTN at chromosome 2, position 178607428—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Primary_familial_dilated_cardiomyopathy'] | GCATTAAAATTATTATTATATTCAGATTCCGCACCTTCATCATCTTGTATGACTACATTAAGAGGTAGGGATGGTTCACTTTCACCAATTTCATTGACAGCTTTGACACGGAACTCATACATTTGGTGTTCATCAAGATTTTCAACCAGAAAAGATGTGGTTGGGCAGAGTCGCTTGTTAACTCTTTCAAAGTCAGGTTTGTCATGACGCCGTTTTTCAATGATATATCCTTGGATGGGACTGCCACCATTACTGCGGGGCTCTTTCCAGTCAAGTGTGATAGTGGACTTTGTCCTTTCAGTGTATGTGAGCCTCTCTGG... | GCATTAAAATTATTATTATATTCAGATTCCGCACCTTCATCATCTTGTATGACTACATTAAGAGGTAGGGATGGTTCACTTTCACCAATTTCATTGACAGCTTTGACACGGAACTCATACATTTGGTGTTCATCAAGATTTTCAACCAGAAAAGATGTGGTTGGGCAGAGTCGCTTGTTAACTCTTTCAAAGTCAGGTTTGTCATGACGCCGTTTTTCAATGATATATCCTTGGATGGGACTGCCACCATTACTGCGGGGCTCTTTCCAGTCAAGTGTGATAGTGGACTTTGTCCTTTCAGTGTATGTGAGCCTCTCTGG... | pathogenic | 49,854 |
Evaluate if the mutation on chromosome 2 at position 178607660 in TTN is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Tibial_muscular_dystrophy'] | GGATGGGACTGCCACCATTACTGCGGGGCTCTTTCCAGTCAAGTGTGATAGTGGACTTTGTCCTTTCAGTGTATGTGAGCCTCTCTGGAGATGTTGGAGGACCTTTAGCCAGAGGCAAGTGAAAATGATTAGCATGAGATAAATATTCATGTAAGAAATAATATTTCACTTCAACTTAATTATGTAAAAAATAGCCTTCTGTTTGGCATAACCTTACATCCTTATTTAAAATCATTCCTAAAACTTGTCAGTTGCCAAAATTATAGACATTCATGTAGACAGAATTTTTCTTAGCAAACTTTTCATCAAGATTATCAGTG... | GGATGGGACTGCCACCATTACTGCGGGGCTCTTTCCAGTCAAGTGTGATAGTGGACTTTGTCCTTTCAGTGTATGTGAGCCTCTCTGGAGATGTTGGAGGACCTTTAGCCAGAGGCAAGTGAAAATGATTAGCATGAGATAAATATTCATGTAAGAAATAATATTTCACTTCAACTTAATTATGTAAAAAATAGCCTTCTGTTTGGCATAACCTTACATCCTTATTTAAAATCATTCCTAAAACTTGTCAGTTGCCAAAATTATAGACATTCATGTAGACAGAATTTTTCTTAGCAAACTTTTCATCAAGATTATCAGTG... | pathogenic | 49,866 |
Determine whether the variant at chromosome 2, position 178607856, in gene TTN is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TTCTGTTTGGCATAACCTTACATCCTTATTTAAAATCATTCCTAAAACTTGTCAGTTGCCAAAATTATAGACATTCATGTAGACAGAATTTTTCTTAGCAAACTTTTCATCAAGATTATCAGTGAAAAATAAATCAAGGGCACGTATGCTTTTTTAATTTAACATTTTAGATTGTTTACCTTTGTAACTGGGGATGCTTCTAATTCTACTGAACTAGGAAAGTAAGTCTGTGAAGCTTTGCTTTGAATGACCAGCTGAGAGCAAAGTGTTTTTTCTTTTATTAACAGATAGTGGATATGTCTATGAACATACTTTGAGTC... | TTCTGTTTGGCATAACCTTACATCCTTATTTAAAATCATTCCTAAAACTTGTCAGTTGCCAAAATTATAGACATTCATGTAGACAGAATTTTTCTTAGCAAACTTTTCATCAAGATTATCAGTGAAAAATAAATCAAGGGCACGTATGCTTTTTTAATTTAACATTTTAGATTGTTTACCTTTGTAACTGGGGATGCTTCTAATTCTACTGAACTAGGAAAGTAAGTCTGTGAAGCTTTGCTTTGAATGACCAGCTGAGAGCAAAGTGTTTTTTCTTTTATTAACAGATAGTGGATATGTCTATGAACATACTTTGAGTC... | pathogenic | 49,877 |
Gene TTN variant at chromosome 2, position 178608054—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TCTAATTCTACTGAACTAGGAAAGTAAGTCTGTGAAGCTTTGCTTTGAATGACCAGCTGAGAGCAAAGTGTTTTTTCTTTTATTAACAGATAGTGGATATGTCTATGAACATACTTTGAGTCATGTTGCCTCACATGTGGGTTCAAAATATGGTGGAAAGAGGATGTATGTAATGCTGCTGAAGTTTTCTTTCCTGAAGGACCAAACTAAGAGTTAAGCTTTCAGTGGTAAAACTAGACCCAATCCATACTTGTTGACTGTTATTGCAACCAGAAGGAGTGGAAGCTCAGCTCTGTTCTGGTGCCTCTGGCACAGCCTGT... | TCTAATTCTACTGAACTAGGAAAGTAAGTCTGTGAAGCTTTGCTTTGAATGACCAGCTGAGAGCAAAGTGTTTTTTCTTTTATTAACAGATAGTGGATATGTCTATGAACATACTTTGAGTCATGTTGCCTCACATGTGGGTTCAAAATATGGTGGAAAGAGGATGTATGTAATGCTGCTGAAGTTTTCTTTCCTGAAGGACCAAACTAAGAGTTAAGCTTTCAGTGGTAAAACTAGACCCAATCCATACTTGTTGACTGTTATTGCAACCAGAAGGAGTGGAAGCTCAGCTCTGTTCTGGTGCCTCTGGCACAGCCTGT... | pathogenic | 49,888 |
Variant at chromosome 2, position 178608187, gene TTN: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Tibial_muscular_dystrophy'] | CATGTGGGTTCAAAATATGGTGGAAAGAGGATGTATGTAATGCTGCTGAAGTTTTCTTTCCTGAAGGACCAAACTAAGAGTTAAGCTTTCAGTGGTAAAACTAGACCCAATCCATACTTGTTGACTGTTATTGCAACCAGAAGGAGTGGAAGCTCAGCTCTGTTCTGGTGCCTCTGGCACAGCCTGTGGTATATTGGACGTTCATAGATGAGCTGCAGCAGTGATATAGGATGTATTTTTTTTTTTCAGGGGGTGATGGTGAAGGAATAAGTTCTTCTGTCTCTTGAGGAATGGGTCTTCCTCAAAGCCTTTGCTTTCTT... | CATGTGGGTTCAAAATATGGTGGAAAGAGGATGTATGTAATGCTGCTGAAGTTTTCTTTCCTGAAGGACCAAACTAAGAGTTAAGCTTTCAGTGGTAAAACTAGACCCAATCCATACTTGTTGACTGTTATTGCAACCAGAAGGAGTGGAAGCTCAGCTCTGTTCTGGTGCCTCTGGCACAGCCTGTGGTATATTGGACGTTCATAGATGAGCTGCAGCAGTGATATAGGATGTATTTTTTTTTTTCAGGGGGTGATGGTGAAGGAATAAGTTCTTCTGTCTCTTGAGGAATGGGTCTTCCTCAAAGCCTTTGCTTTCTT... | pathogenic | 49,890 |
Benign or pathogenic: chromosome 2, position 178608279, gene TTN variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TGGTAAAACTAGACCCAATCCATACTTGTTGACTGTTATTGCAACCAGAAGGAGTGGAAGCTCAGCTCTGTTCTGGTGCCTCTGGCACAGCCTGTGGTATATTGGACGTTCATAGATGAGCTGCAGCAGTGATATAGGATGTATTTTTTTTTTTCAGGGGGTGATGGTGAAGGAATAAGTTCTTCTGTCTCTTGAGGAATGGGTCTTCCTCAAAGCCTTTGCTTTCTTAGATGGGATGTCAGTGTGCATTACTGTGTGTGCAATTTTAGTGTTTCGTATTGATTTCTGGGAGATTCCCTCTGGTTGGTTTTCTATTCTTT... | TGGTAAAACTAGACCCAATCCATACTTGTTGACTGTTATTGCAACCAGAAGGAGTGGAAGCTCAGCTCTGTTCTGGTGCCTCTGGCACAGCCTGTGGTATATTGGACGTTCATAGATGAGCTGCAGCAGTGATATAGGATGTATTTTTTTTTTTCAGGGGGTGATGGTGAAGGAATAAGTTCTTCTGTCTCTTGAGGAATGGGTCTTCCTCAAAGCCTTTGCTTTCTTAGATGGGATGTCAGTGTGCATTACTGTGTGTGCAATTTTAGTGTTTCGTATTGATTTCTGGGAGATTCCCTCTGGTTGGTTTTCTATTCTTT... | pathogenic | 49,894 |
Chromosome 2, position 178608693, gene TTN: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CTAATCTTTTAGAAGAACATTGAATTCTCTTTAACTACTACGCTAGTAAGTTTTAAAAACCCGACTTCCAATGTGTTCTACTGGAGAGATATAATATGTCTAAACTACTTCTAGGTTATTATTAAGCCCCTGTAGATCCAAGTTTTTCAGTACAAGAAACCATGCATGATTAATATACTTACAGCCACAAATTACATTGAAATTATAGGAAATATGATATCTTTAATGTTGCTAATAGTTTTTTGATTTACTTTTCTTATTACTCTTTAGCTATAGATTTTGAGACTGTTGGGAGTTTGAAGCCATAAAGCTCAGTAAAT... | CTAATCTTTTAGAAGAACATTGAATTCTCTTTAACTACTACGCTAGTAAGTTTTAAAAACCCGACTTCCAATGTGTTCTACTGGAGAGATATAATATGTCTAAACTACTTCTAGGTTATTATTAAGCCCCTGTAGATCCAAGTTTTTCAGTACAAGAAACCATGCATGATTAATATACTTACAGCCACAAATTACATTGAAATTATAGGAAATATGATATCTTTAATGTTGCTAATAGTTTTTTGATTTACTTTTCTTATTACTCTTTAGCTATAGATTTTGAGACTGTTGGGAGTTTGAAGCCATAAAGCTCAGTAAAT... | pathogenic | 49,907 |
Is the genetic change at chromosome 2, position 178608700, within gene TTN benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TTTAGAAGAACATTGAATTCTCTTTAACTACTACGCTAGTAAGTTTTAAAAACCCGACTTCCAATGTGTTCTACTGGAGAGATATAATATGTCTAAACTACTTCTAGGTTATTATTAAGCCCCTGTAGATCCAAGTTTTTCAGTACAAGAAACCATGCATGATTAATATACTTACAGCCACAAATTACATTGAAATTATAGGAAATATGATATCTTTAATGTTGCTAATAGTTTTTTGATTTACTTTTCTTATTACTCTTTAGCTATAGATTTTGAGACTGTTGGGAGTTTGAAGCCATAAAGCTCAGTAAATAATATAA... | TTTAGAAGAACATTGAATTCTCTTTAACTACTACGCTAGTAAGTTTTAAAAACCCGACTTCCAATGTGTTCTACTGGAGAGATATAATATGTCTAAACTACTTCTAGGTTATTATTAAGCCCCTGTAGATCCAAGTTTTTCAGTACAAGAAACCATGCATGATTAATATACTTACAGCCACAAATTACATTGAAATTATAGGAAATATGATATCTTTAATGTTGCTAATAGTTTTTTGATTTACTTTTCTTATTACTCTTTAGCTATAGATTTTGAGACTGTTGGGAGTTTGAAGCCATAAAGCTCAGTAAATAATATAA... | pathogenic | 49,908 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 178608773, gene TTN: what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_familial_dilated_cardiomyopathy'] | CTGGAGAGATATAATATGTCTAAACTACTTCTAGGTTATTATTAAGCCCCTGTAGATCCAAGTTTTTCAGTACAAGAAACCATGCATGATTAATATACTTACAGCCACAAATTACATTGAAATTATAGGAAATATGATATCTTTAATGTTGCTAATAGTTTTTTGATTTACTTTTCTTATTACTCTTTAGCTATAGATTTTGAGACTGTTGGGAGTTTGAAGCCATAAAGCTCAGTAAATAATATAACTAGAAGCAAAACATTACTCTATAAACACAATGAAACCTTCTCTTTTACCTAGTGGATCAACTGCAAGAATTG... | CTGGAGAGATATAATATGTCTAAACTACTTCTAGGTTATTATTAAGCCCCTGTAGATCCAAGTTTTTCAGTACAAGAAACCATGCATGATTAATATACTTACAGCCACAAATTACATTGAAATTATAGGAAATATGATATCTTTAATGTTGCTAATAGTTTTTTGATTTACTTTTCTTATTACTCTTTAGCTATAGATTTTGAGACTGTTGGGAGTTTGAAGCCATAAAGCTCAGTAAATAATATAACTAGAAGCAAAACATTACTCTATAAACACAATGAAACCTTCTCTTTTACCTAGTGGATCAACTGCAAGAATTG... | pathogenic | 49,912 |
Variant at chromosome position 178608781, chromosome 2, gene TTN: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | ATATAATATGTCTAAACTACTTCTAGGTTATTATTAAGCCCCTGTAGATCCAAGTTTTTCAGTACAAGAAACCATGCATGATTAATATACTTACAGCCACAAATTACATTGAAATTATAGGAAATATGATATCTTTAATGTTGCTAATAGTTTTTTGATTTACTTTTCTTATTACTCTTTAGCTATAGATTTTGAGACTGTTGGGAGTTTGAAGCCATAAAGCTCAGTAAATAATATAACTAGAAGCAAAACATTACTCTATAAACACAATGAAACCTTCTCTTTTACCTAGTGGATCAACTGCAAGAATTGGTCCTATT... | ATATAATATGTCTAAACTACTTCTAGGTTATTATTAAGCCCCTGTAGATCCAAGTTTTTCAGTACAAGAAACCATGCATGATTAATATACTTACAGCCACAAATTACATTGAAATTATAGGAAATATGATATCTTTAATGTTGCTAATAGTTTTTTGATTTACTTTTCTTATTACTCTTTAGCTATAGATTTTGAGACTGTTGGGAGTTTGAAGCCATAAAGCTCAGTAAATAATATAACTAGAAGCAAAACATTACTCTATAAACACAATGAAACCTTCTCTTTTACCTAGTGGATCAACTGCAAGAATTGGTCCTATT... | pathogenic | 49,913 |
Regarding the variant found on chromosome 2 at position 178609344 in gene TTN: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AGAACTGGACCAGGGACATCTGAAAACAAAACAAAGCCAAAAATCAATGTAATAAGATAGTATCACTTGGGAAAATCCTGTGAAAATCAGTGCAACATTCCTTACCAAAAACTTCTACCCTGGCTGCTGCAAATTTGGAACCACAGCTATTTGTAGCTGTAATCACATATCTGCCATGGTCTTTTCGCAGTGCATCCTTGATAATTAGTTCAGATTTGGTTCCAACGTTGTCTATTACAACACGGTCTTTATCCAGCTCCCCTTCTTCTTTGGTCCATACTTTTGTAGGTACAGGGCGACCAGTCACCACAGCTGGAATT... | AGAACTGGACCAGGGACATCTGAAAACAAAACAAAGCCAAAAATCAATGTAATAAGATAGTATCACTTGGGAAAATCCTGTGAAAATCAGTGCAACATTCCTTACCAAAAACTTCTACCCTGGCTGCTGCAAATTTGGAACCACAGCTATTTGTAGCTGTAATCACATATCTGCCATGGTCTTTTCGCAGTGCATCCTTGATAATTAGTTCAGATTTGGTTCCAACGTTGTCTATTACAACACGGTCTTTATCCAGCTCCCCTTCTTCTTTGGTCCATACTTTTGTAGGTACAGGGCGACCAGTCACCACAGCTGGAATT... | pathogenic | 49,926 |
Assess the variant on chromosome 2, position 178609387, impacting TTN: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiovascular_phenotype'] | TCAATGTAATAAGATAGTATCACTTGGGAAAATCCTGTGAAAATCAGTGCAACATTCCTTACCAAAAACTTCTACCCTGGCTGCTGCAAATTTGGAACCACAGCTATTTGTAGCTGTAATCACATATCTGCCATGGTCTTTTCGCAGTGCATCCTTGATAATTAGTTCAGATTTGGTTCCAACGTTGTCTATTACAACACGGTCTTTATCCAGCTCCCCTTCTTCTTTGGTCCATACTTTTGTAGGTACAGGGCGACCAGTCACCACAGCTGGAATTCTAAGAGTCTTCCCAGCCATTATTTGTATTCCACCCTTGACAG... | TCAATGTAATAAGATAGTATCACTTGGGAAAATCCTGTGAAAATCAGTGCAACATTCCTTACCAAAAACTTCTACCCTGGCTGCTGCAAATTTGGAACCACAGCTATTTGTAGCTGTAATCACATATCTGCCATGGTCTTTTCGCAGTGCATCCTTGATAATTAGTTCAGATTTGGTTCCAACGTTGTCTATTACAACACGGTCTTTATCCAGCTCCCCTTCTTCTTTGGTCCATACTTTTGTAGGTACAGGGCGACCAGTCACCACAGCTGGAATTCTAAGAGTCTTCCCAGCCATTATTTGTATTCCACCCTTGACAG... | pathogenic | 49,929 |
Variant in gene TTN, located at chromosome 2 position 178609393: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TAATAAGATAGTATCACTTGGGAAAATCCTGTGAAAATCAGTGCAACATTCCTTACCAAAAACTTCTACCCTGGCTGCTGCAAATTTGGAACCACAGCTATTTGTAGCTGTAATCACATATCTGCCATGGTCTTTTCGCAGTGCATCCTTGATAATTAGTTCAGATTTGGTTCCAACGTTGTCTATTACAACACGGTCTTTATCCAGCTCCCCTTCTTCTTTGGTCCATACTTTTGTAGGTACAGGGCGACCAGTCACCACAGCTGGAATTCTAAGAGTCTTCCCAGCCATTATTTGTATTCCACCCTTGACAGAAACAT... | TAATAAGATAGTATCACTTGGGAAAATCCTGTGAAAATCAGTGCAACATTCCTTACCAAAAACTTCTACCCTGGCTGCTGCAAATTTGGAACCACAGCTATTTGTAGCTGTAATCACATATCTGCCATGGTCTTTTCGCAGTGCATCCTTGATAATTAGTTCAGATTTGGTTCCAACGTTGTCTATTACAACACGGTCTTTATCCAGCTCCCCTTCTTCTTTGGTCCATACTTTTGTAGGTACAGGGCGACCAGTCACCACAGCTGGAATTCTAAGAGTCTTCCCAGCCATTATTTGTATTCCACCCTTGACAGAAACAT... | pathogenic | 49,930 |
Gene TTN variant at chromosome position 178609439 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | CATTCCTTACCAAAAACTTCTACCCTGGCTGCTGCAAATTTGGAACCACAGCTATTTGTAGCTGTAATCACATATCTGCCATGGTCTTTTCGCAGTGCATCCTTGATAATTAGTTCAGATTTGGTTCCAACGTTGTCTATTACAACACGGTCTTTATCCAGCTCCCCTTCTTCTTTGGTCCATACTTTTGTAGGTACAGGGCGACCAGTCACCACAGCTGGAATTCTAAGAGTCTTCCCAGCCATTATTTGTATTCCACCCTTGACAGAAACATCCAGTTCCACAGCTGGAGGCTCTGTTGAAAGAGAACAGTCATGCAT... | CATTCCTTACCAAAAACTTCTACCCTGGCTGCTGCAAATTTGGAACCACAGCTATTTGTAGCTGTAATCACATATCTGCCATGGTCTTTTCGCAGTGCATCCTTGATAATTAGTTCAGATTTGGTTCCAACGTTGTCTATTACAACACGGTCTTTATCCAGCTCCCCTTCTTCTTTGGTCCATACTTTTGTAGGTACAGGGCGACCAGTCACCACAGCTGGAATTCTAAGAGTCTTCCCAGCCATTATTTGTATTCCACCCTTGACAGAAACATCCAGTTCCACAGCTGGAGGCTCTGTTGAAAGAGAACAGTCATGCAT... | pathogenic | 49,933 |
Considering the genetic mutation at chromosome 2, position 178609461, impacting TTN: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CCCTGGCTGCTGCAAATTTGGAACCACAGCTATTTGTAGCTGTAATCACATATCTGCCATGGTCTTTTCGCAGTGCATCCTTGATAATTAGTTCAGATTTGGTTCCAACGTTGTCTATTACAACACGGTCTTTATCCAGCTCCCCTTCTTCTTTGGTCCATACTTTTGTAGGTACAGGGCGACCAGTCACCACAGCTGGAATTCTAAGAGTCTTCCCAGCCATTATTTGTATTCCACCCTTGACAGAAACATCCAGTTCCACAGCTGGAGGCTCTGTTGAAAGAGAACAGTCATGCATTAGCCCATGAAAGATTAAAAAA... | CCCTGGCTGCTGCAAATTTGGAACCACAGCTATTTGTAGCTGTAATCACATATCTGCCATGGTCTTTTCGCAGTGCATCCTTGATAATTAGTTCAGATTTGGTTCCAACGTTGTCTATTACAACACGGTCTTTATCCAGCTCCCCTTCTTCTTTGGTCCATACTTTTGTAGGTACAGGGCGACCAGTCACCACAGCTGGAATTCTAAGAGTCTTCCCAGCCATTATTTGTATTCCACCCTTGACAGAAACATCCAGTTCCACAGCTGGAGGCTCTGTTGAAAGAGAACAGTCATGCATTAGCCCATGAAAGATTAAAAAA... | pathogenic | 49,935 |
Located at chromosome 2 position 178609523, the variant affecting gene TTN—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'TTN-related_disorder'] | TCTTTTCGCAGTGCATCCTTGATAATTAGTTCAGATTTGGTTCCAACGTTGTCTATTACAACACGGTCTTTATCCAGCTCCCCTTCTTCTTTGGTCCATACTTTTGTAGGTACAGGGCGACCAGTCACCACAGCTGGAATTCTAAGAGTCTTCCCAGCCATTATTTGTATTCCACCCTTGACAGAAACATCCAGTTCCACAGCTGGAGGCTCTGTTGAAAGAGAACAGTCATGCATTAGCCCATGAAAGATTAAAAAATAGTCCCATATAGAGAAAATATCCATAATTTTATTCCAATAACGTTAAGTACCTTGTGGTTC... | TCTTTTCGCAGTGCATCCTTGATAATTAGTTCAGATTTGGTTCCAACGTTGTCTATTACAACACGGTCTTTATCCAGCTCCCCTTCTTCTTTGGTCCATACTTTTGTAGGTACAGGGCGACCAGTCACCACAGCTGGAATTCTAAGAGTCTTCCCAGCCATTATTTGTATTCCACCCTTGACAGAAACATCCAGTTCCACAGCTGGAGGCTCTGTTGAAAGAGAACAGTCATGCATTAGCCCATGAAAGATTAAAAAATAGTCCCATATAGAGAAAATATCCATAATTTTATTCCAATAACGTTAAGTACCTTGTGGTTC... | pathogenic | 49,936 |
Variant at chromosome position 178609768, chromosome 2, gene TTN: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AAAGATTAAAAAATAGTCCCATATAGAGAAAATATCCATAATTTTATTCCAATAACGTTAAGTACCTTGTGGTTCAGCCACAGTAACAGGTTGTGTTTCTCCAGGCGGTCCTTCCCCTGCGGCATTGACAGCACTCACCCGAAGTTTGTAATCAGCACCCTCTCGGATTTCTTTGACGGTGTACTGACGGACCTTGATCATCTTCTCTGTGCAGCGTGACCATTCATTTGTGCCAACCAACTGCTTATCAACAAAATAGCCAACAATTTCCCCACCACCATTGAAAGCTGGGGGTTCCCATTCTAGTTCAATAGTTGTAG... | AAAGATTAAAAAATAGTCCCATATAGAGAAAATATCCATAATTTTATTCCAATAACGTTAAGTACCTTGTGGTTCAGCCACAGTAACAGGTTGTGTTTCTCCAGGCGGTCCTTCCCCTGCGGCATTGACAGCACTCACCCGAAGTTTGTAATCAGCACCCTCTCGGATTTCTTTGACGGTGTACTGACGGACCTTGATCATCTTCTCTGTGCAGCGTGACCATTCATTTGTGCCAACCAACTGCTTATCAACAAAATAGCCAACAATTTCCCCACCACCATTGAAAGCTGGGGGTTCCCATTCTAGTTCAATAGTTGTAG... | pathogenic | 49,948 |
The mutation impacting TTN on chromosome 2 at position 178609897: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1A', 'Dilated_cardiomyopathy_1G'] | AGCACTCACCCGAAGTTTGTAATCAGCACCCTCTCGGATTTCTTTGACGGTGTACTGACGGACCTTGATCATCTTCTCTGTGCAGCGTGACCATTCATTTGTGCCAACCAACTGCTTATCAACAAAATAGCCAACAATTTCCCCACCACCATTGAAAGCTGGGGGTTCCCATTCTAGTTCAATAGTTGTAGAGCTTGTGTCAGTGACTCTTGGGATAGGTGGCCCAGGAGGAGCTAGAATGAATGAAGATAGACAAATCAAACTCCCTGATGGTTTTAAAATGTACAATAGCTTGTTCTACTCCACCTTCTTCTTAAGGA... | AGCACTCACCCGAAGTTTGTAATCAGCACCCTCTCGGATTTCTTTGACGGTGTACTGACGGACCTTGATCATCTTCTCTGTGCAGCGTGACCATTCATTTGTGCCAACCAACTGCTTATCAACAAAATAGCCAACAATTTCCCCACCACCATTGAAAGCTGGGGGTTCCCATTCTAGTTCAATAGTTGTAGAGCTTGTGTCAGTGACTCTTGGGATAGGTGGCCCAGGAGGAGCTAGAATGAATGAAGATAGACAAATCAAACTCCCTGATGGTTTTAAAATGTACAATAGCTTGTTCTACTCCACCTTCTTCTTAAGGA... | pathogenic | 49,953 |
Located at chromosome 2 position 178609960, the variant affecting gene TTN—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CTTGATCATCTTCTCTGTGCAGCGTGACCATTCATTTGTGCCAACCAACTGCTTATCAACAAAATAGCCAACAATTTCCCCACCACCATTGAAAGCTGGGGGTTCCCATTCTAGTTCAATAGTTGTAGAGCTTGTGTCAGTGACTCTTGGGATAGGTGGCCCAGGAGGAGCTAGAATGAATGAAGATAGACAAATCAAACTCCCTGATGGTTTTAAAATGTACAATAGCTTGTTCTACTCCACCTTCTTCTTAAGGAACTACTTACAGATTGGATCATGTGCTGTTTTGGGATCTGAAGGTGGACTGAACTTTCCAGGTC... | CTTGATCATCTTCTCTGTGCAGCGTGACCATTCATTTGTGCCAACCAACTGCTTATCAACAAAATAGCCAACAATTTCCCCACCACCATTGAAAGCTGGGGGTTCCCATTCTAGTTCAATAGTTGTAGAGCTTGTGTCAGTGACTCTTGGGATAGGTGGCCCAGGAGGAGCTAGAATGAATGAAGATAGACAAATCAAACTCCCTGATGGTTTTAAAATGTACAATAGCTTGTTCTACTCCACCTTCTTCTTAAGGAACTACTTACAGATTGGATCATGTGCTGTTTTGGGATCTGAAGGTGGACTGAACTTTCCAGGTC... | pathogenic | 49,957 |
Is the genetic mutation found on chromosome 2 at position 178609978, within the gene TTN, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | GCAGCGTGACCATTCATTTGTGCCAACCAACTGCTTATCAACAAAATAGCCAACAATTTCCCCACCACCATTGAAAGCTGGGGGTTCCCATTCTAGTTCAATAGTTGTAGAGCTTGTGTCAGTGACTCTTGGGATAGGTGGCCCAGGAGGAGCTAGAATGAATGAAGATAGACAAATCAAACTCCCTGATGGTTTTAAAATGTACAATAGCTTGTTCTACTCCACCTTCTTCTTAAGGAACTACTTACAGATTGGATCATGTGCTGTTTTGGGATCTGAAGGTGGACTGAACTTTCCAGGTCCAGCTGCATTTTCAGCAC... | GCAGCGTGACCATTCATTTGTGCCAACCAACTGCTTATCAACAAAATAGCCAACAATTTCCCCACCACCATTGAAAGCTGGGGGTTCCCATTCTAGTTCAATAGTTGTAGAGCTTGTGTCAGTGACTCTTGGGATAGGTGGCCCAGGAGGAGCTAGAATGAATGAAGATAGACAAATCAAACTCCCTGATGGTTTTAAAATGTACAATAGCTTGTTCTACTCCACCTTCTTCTTAAGGAACTACTTACAGATTGGATCATGTGCTGTTTTGGGATCTGAAGGTGGACTGAACTTTCCAGGTCCAGCTGCATTTTCAGCAC... | pathogenic | 49,958 |
Mutation at chromosome 2, position 178610301, within TTN: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CTCTGAAGACATAGGTGAGTCCTTCTAATAAGCCATCTACATTGGCTTTCAAGGCATTCAGAAGGCTTTTGTTGACACGAGACCAATGTGTACTGTTAACTTCACGTTTTTCAAGCCAGTAACCCAAAATGGGGCTTCCATTATCTTTTGGTTCATTCCATTTCACTAGCATACTGTTGCTGGTAACATCTTCCACAATGGGCTTATCTGGTGCATCAGGTGGTCCTGATAAAAAAATAACATTTGAAGTAAATTTCCCAGTATGACATAAAAATGCAATTTTAAAAGCTGTAGTAATTATATACCAAAGTACATGGTAA... | CTCTGAAGACATAGGTGAGTCCTTCTAATAAGCCATCTACATTGGCTTTCAAGGCATTCAGAAGGCTTTTGTTGACACGAGACCAATGTGTACTGTTAACTTCACGTTTTTCAAGCCAGTAACCCAAAATGGGGCTTCCATTATCTTTTGGTTCATTCCATTTCACTAGCATACTGTTGCTGGTAACATCTTCCACAATGGGCTTATCTGGTGCATCAGGTGGTCCTGATAAAAAAATAACATTTGAAGTAAATTTCCCAGTATGACATAAAAATGCAATTTTAAAAGCTGTAGTAATTATATACCAAAGTACATGGTAA... | pathogenic | 49,971 |
Evaluate if the mutation on chromosome 2 at position 178611131 in TTN is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TAAAATATGATTGAGGATAACTTGCTGAAGCTATGTCCCATTTCTTTTAACTCTCTCCCAAACTTTTTATTTTTATGTTTTACTAAAACCTTTTTCCATTGGAAAGTGTAGTTTTAATGACTCACCTAACACACTGACAGTACAAGGAGCTTTTGCAATACCGTGGTCATTTTCAACTTTGATCATATACAGACCATGGTCAGGTCGGAGAGAATCTCGGACGCGTAGCTGAGATTCTCCCTTTTTGCTGTTGTCAATACTCAAACGCTGTGTCAGAGGCAGGACAAATGGTTCTTCTTCTTGAACTTCACCCTTCCTTC... | TAAAATATGATTGAGGATAACTTGCTGAAGCTATGTCCCATTTCTTTTAACTCTCTCCCAAACTTTTTATTTTTATGTTTTACTAAAACCTTTTTCCATTGGAAAGTGTAGTTTTAATGACTCACCTAACACACTGACAGTACAAGGAGCTTTTGCAATACCGTGGTCATTTTCAACTTTGATCATATACAGACCATGGTCAGGTCGGAGAGAATCTCGGACGCGTAGCTGAGATTCTCCCTTTTTGCTGTTGTCAATACTCAAACGCTGTGTCAGAGGCAGGACAAATGGTTCTTCTTCTTGAACTTCACCCTTCCTTC... | pathogenic | 49,977 |
Determine whether the variant at chromosome 2, position 178611210, in gene TTN is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TTACTAAAACCTTTTTCCATTGGAAAGTGTAGTTTTAATGACTCACCTAACACACTGACAGTACAAGGAGCTTTTGCAATACCGTGGTCATTTTCAACTTTGATCATATACAGACCATGGTCAGGTCGGAGAGAATCTCGGACGCGTAGCTGAGATTCTCCCTTTTTGCTGTTGTCAATACTCAAACGCTGTGTCAGAGGCAGGACAAATGGTTCTTCTTCTTGAACTTCACCCTTCCTTCTCCTAACCAAGGGTGCTGCACGCTTCTTAATTTCCTCTGGTACAATAACATTTTCATCCTTTATCCATGTAATAGTTGG... | TTACTAAAACCTTTTTCCATTGGAAAGTGTAGTTTTAATGACTCACCTAACACACTGACAGTACAAGGAGCTTTTGCAATACCGTGGTCATTTTCAACTTTGATCATATACAGACCATGGTCAGGTCGGAGAGAATCTCGGACGCGTAGCTGAGATTCTCCCTTTTTGCTGTTGTCAATACTCAAACGCTGTGTCAGAGGCAGGACAAATGGTTCTTCTTCTTGAACTTCACCCTTCCTTCTCCTAACCAAGGGTGCTGCACGCTTCTTAATTTCCTCTGGTACAATAACATTTTCATCCTTTATCCATGTAATAGTTGG... | pathogenic | 49,982 |
Clinical classification of chromosome 2, position 178611568, gene TTN: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Noncompaction_cardiomyopathy', 'Reduced_lef... | CATCACCTCGTTTCACTTCTAGGCTTGTTCTCAGAATGACTTTGGGGGCATCTATAGTGATCATAACCAATAAATGTTTTCAATTCTGATGAAAATAACTGACAAAACATTATTTTCATTTATTTCAAAATGGGAAAGTGGCAACTCCATGAAACAAAACTTACCAATGGGATCTACAGCTTTGGTTGGAGGAGTAGCCCGAGAAGGTTCACTAATACCCGCGGCGTTCTCTGCTCGCACACGGAATTGGTACTCTTTCCCCTCTTCAAGTCCTTTTGCTGTATAGGTCAGGATTGGTACCAGGTGTTCATTGCATCTCT... | CATCACCTCGTTTCACTTCTAGGCTTGTTCTCAGAATGACTTTGGGGGCATCTATAGTGATCATAACCAATAAATGTTTTCAATTCTGATGAAAATAACTGACAAAACATTATTTTCATTTATTTCAAAATGGGAAAGTGGCAACTCCATGAAACAAAACTTACCAATGGGATCTACAGCTTTGGTTGGAGGAGTAGCCCGAGAAGGTTCACTAATACCCGCGGCGTTCTCTGCTCGCACACGGAATTGGTACTCTTTCCCCTCTTCAAGTCCTTTTGCTGTATAGGTCAGGATTGGTACCAGGTGTTCATTGCATCTCT... | pathogenic | 49,988 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 178611818, gene TTN: what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TACTCTTTCCCCTCTTCAAGTCCTTTTGCTGTATAGGTCAGGATTGGTACCAGGTGTTCATTGCATCTCTTCCACCTTTCTTCACCCTTAGCAATCTTCTCTATGATGTAGCCCATTATCTTGCTCCCTCCATCATACAAAGGTGGCTTCCATGTAATAGTCATTGCCTCCGCTGTAGGATTATGAACCTCTACATCTACAGGTGGATCAGGGGGTTCTGAAGAACAAGAAAAAAATGTTAGTATCAGGAAAACCACCTTCTTAAAACAAAACTATGGTTTATTAGTTCTTAGCCATAGTGCATCCATGTCCAAACTTAC... | TACTCTTTCCCCTCTTCAAGTCCTTTTGCTGTATAGGTCAGGATTGGTACCAGGTGTTCATTGCATCTCTTCCACCTTTCTTCACCCTTAGCAATCTTCTCTATGATGTAGCCCATTATCTTGCTCCCTCCATCATACAAAGGTGGCTTCCATGTAATAGTCATTGCCTCCGCTGTAGGATTATGAACCTCTACATCTACAGGTGGATCAGGGGGTTCTGAAGAACAAGAAAAAAATGTTAGTATCAGGAAAACCACCTTCTTAAAACAAAACTATGGTTTATTAGTTCTTAGCCATAGTGCATCCATGTCCAAACTTAC... | pathogenic | 49,995 |
Determine whether the variant at chromosome 2, position 178611840, in gene TTN is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | CTTTTGCTGTATAGGTCAGGATTGGTACCAGGTGTTCATTGCATCTCTTCCACCTTTCTTCACCCTTAGCAATCTTCTCTATGATGTAGCCCATTATCTTGCTCCCTCCATCATACAAAGGTGGCTTCCATGTAATAGTCATTGCCTCCGCTGTAGGATTATGAACCTCTACATCTACAGGTGGATCAGGGGGTTCTGAAGAACAAGAAAAAAATGTTAGTATCAGGAAAACCACCTTCTTAAAACAAAACTATGGTTTATTAGTTCTTAGCCATAGTGCATCCATGTCCAAACTTACGCTTTGGATCTTGAGCAATGAC... | CTTTTGCTGTATAGGTCAGGATTGGTACCAGGTGTTCATTGCATCTCTTCCACCTTTCTTCACCCTTAGCAATCTTCTCTATGATGTAGCCCATTATCTTGCTCCCTCCATCATACAAAGGTGGCTTCCATGTAATAGTCATTGCCTCCGCTGTAGGATTATGAACCTCTACATCTACAGGTGGATCAGGGGGTTCTGAAGAACAAGAAAAAAATGTTAGTATCAGGAAAACCACCTTCTTAAAACAAAACTATGGTTTATTAGTTCTTAGCCATAGTGCATCCATGTCCAAACTTACGCTTTGGATCTTGAGCAATGAC... | pathogenic | 49,997 |
Mutation found at chromosome 2 position 178611930, gene TTN: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CCATTATCTTGCTCCCTCCATCATACAAAGGTGGCTTCCATGTAATAGTCATTGCCTCCGCTGTAGGATTATGAACCTCTACATCTACAGGTGGATCAGGGGGTTCTGAAGAACAAGAAAAAAATGTTAGTATCAGGAAAACCACCTTCTTAAAACAAAACTATGGTTTATTAGTTCTTAGCCATAGTGCATCCATGTCCAAACTTACGCTTTGGATCTTGAGCAATGACTGGATTTTTCAGTTCAATATATTCTCCTCCACCAACCTTGTTGACTGCTTTAACACGGAAGAAGTATTCACCATTTGGTATGAGATCCTT... | CCATTATCTTGCTCCCTCCATCATACAAAGGTGGCTTCCATGTAATAGTCATTGCCTCCGCTGTAGGATTATGAACCTCTACATCTACAGGTGGATCAGGGGGTTCTGAAGAACAAGAAAAAAATGTTAGTATCAGGAAAACCACCTTCTTAAAACAAAACTATGGTTTATTAGTTCTTAGCCATAGTGCATCCATGTCCAAACTTACGCTTTGGATCTTGAGCAATGACTGGATTTTTCAGTTCAATATATTCTCCTCCACCAACCTTGTTGACTGCTTTAACACGGAAGAAGTATTCACCATTTGGTATGAGATCCTT... | pathogenic | 49,999 |
Clinical significance of chromosome 2, position 178612387, gene TTN: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype'] | AACTCTTGGTAATGTCACTTGCTTTAATATCTTTGCATGGTCCAGGTAGGCCTATTACAAAAATGGATAATTATTCTAGTAATCCTGAAAAATCAGCATTTTAATAATGCACTTGTCTCTAAGTGGGGCTATCTGTATTTTGGGTAGGATAATCTTTGATGTGCTGGAGTGTCATTCACACTGCAGAGCATTTAGCATCCTTGGCTCCCAACTACTAAATGTCAGTGGTATCTACCTCAAGTCTGTGTGCCAAGCAAAAATGGCCCCACAAATTTCCAGACATTATTTGCAGGGCTGGGGGGAATGCAGAAAATGTTACT... | AACTCTTGGTAATGTCACTTGCTTTAATATCTTTGCATGGTCCAGGTAGGCCTATTACAAAAATGGATAATTATTCTAGTAATCCTGAAAAATCAGCATTTTAATAATGCACTTGTCTCTAAGTGGGGCTATCTGTATTTTGGGTAGGATAATCTTTGATGTGCTGGAGTGTCATTCACACTGCAGAGCATTTAGCATCCTTGGCTCCCAACTACTAAATGTCAGTGGTATCTACCTCAAGTCTGTGTGCCAAGCAAAAATGGCCCCACAAATTTCCAGACATTATTTGCAGGGCTGGGGGGAATGCAGAAAATGTTACT... | pathogenic | 50,015 |
Assess the variant on chromosome 2, position 178612455, impacting TTN: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Tibial_muscular_dystrophy'] | AATTATTCTAGTAATCCTGAAAAATCAGCATTTTAATAATGCACTTGTCTCTAAGTGGGGCTATCTGTATTTTGGGTAGGATAATCTTTGATGTGCTGGAGTGTCATTCACACTGCAGAGCATTTAGCATCCTTGGCTCCCAACTACTAAATGTCAGTGGTATCTACCTCAAGTCTGTGTGCCAAGCAAAAATGGCCCCACAAATTTCCAGACATTATTTGCAGGGCTGGGGGGAATGCAGAAAATGTTACTATCCCTGGTTAAGAACACTATGGGAAAATGTGAAGCTGTGCAATTAAAAAATTGTGGTCATTTCAATG... | AATTATTCTAGTAATCCTGAAAAATCAGCATTTTAATAATGCACTTGTCTCTAAGTGGGGCTATCTGTATTTTGGGTAGGATAATCTTTGATGTGCTGGAGTGTCATTCACACTGCAGAGCATTTAGCATCCTTGGCTCCCAACTACTAAATGTCAGTGGTATCTACCTCAAGTCTGTGTGCCAAGCAAAAATGGCCCCACAAATTTCCAGACATTATTTGCAGGGCTGGGGGGAATGCAGAAAATGTTACTATCCCTGGTTAAGAACACTATGGGAAAATGTGAAGCTGTGCAATTAAAAAATTGTGGTCATTTCAATG... | pathogenic | 50,021 |
Does the variant impacting TTN on chromosome 2, position 178612527, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TGGGTAGGATAATCTTTGATGTGCTGGAGTGTCATTCACACTGCAGAGCATTTAGCATCCTTGGCTCCCAACTACTAAATGTCAGTGGTATCTACCTCAAGTCTGTGTGCCAAGCAAAAATGGCCCCACAAATTTCCAGACATTATTTGCAGGGCTGGGGGGAATGCAGAAAATGTTACTATCCCTGGTTAAGAACACTATGGGAAAATGTGAAGCTGTGCAATTAAAAAATTGTGGTCATTTCAATGCTCTTTGGGTATGCTAATATCTGTTATTTAAATTAGTATTTCACATGCAATTAACTAAAACTAGTATAAATT... | TGGGTAGGATAATCTTTGATGTGCTGGAGTGTCATTCACACTGCAGAGCATTTAGCATCCTTGGCTCCCAACTACTAAATGTCAGTGGTATCTACCTCAAGTCTGTGTGCCAAGCAAAAATGGCCCCACAAATTTCCAGACATTATTTGCAGGGCTGGGGGGAATGCAGAAAATGTTACTATCCCTGGTTAAGAACACTATGGGAAAATGTGAAGCTGTGCAATTAAAAAATTGTGGTCATTTCAATGCTCTTTGGGTATGCTAATATCTGTTATTTAAATTAGTATTTCACATGCAATTAACTAAAACTAGTATAAATT... | pathogenic | 50,024 |
Chromosome 2, position 178613158, gene TTN: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Primary_dilated_cardiomyo... | GATCATTCTTCATTGTTAATCTATCACTTGCTTTAACTTCTTTGCCATCTTTATGCCAACTAACAGTTGGAACTGGGACAGCTCTGAAGGGAACAGGAATGCTTAACTTTTCACCTTCAATAACAATAATGTCATGAGTCTCCAGGTCAATTGTTGGCTTGCCTGTAAGATATCATTCAAAAGAGCAAAAAACAGAGTATGTCAAAATGCAATGCATGAATAAAGGGTATTTTATTAACTATAAAAGACCTTGTGCTCTTACAGTCTGGGTCTTTGGCAACCACATTTTCAGAGATTTCAGATGGCTCGCTGACACCAAT... | GATCATTCTTCATTGTTAATCTATCACTTGCTTTAACTTCTTTGCCATCTTTATGCCAACTAACAGTTGGAACTGGGACAGCTCTGAAGGGAACAGGAATGCTTAACTTTTCACCTTCAATAACAATAATGTCATGAGTCTCCAGGTCAATTGTTGGCTTGCCTGTAAGATATCATTCAAAAGAGCAAAAAACAGAGTATGTCAAAATGCAATGCATGAATAAAGGGTATTTTATTAACTATAAAAGACCTTGTGCTCTTACAGTCTGGGTCTTTGGCAACCACATTTTCAGAGATTTCAGATGGCTCGCTGACACCAAT... | pathogenic | 50,048 |
Variant in TTN, chromosome 2, position 178613222—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AGTTGGAACTGGGACAGCTCTGAAGGGAACAGGAATGCTTAACTTTTCACCTTCAATAACAATAATGTCATGAGTCTCCAGGTCAATTGTTGGCTTGCCTGTAAGATATCATTCAAAAGAGCAAAAAACAGAGTATGTCAAAATGCAATGCATGAATAAAGGGTATTTTATTAACTATAAAAGACCTTGTGCTCTTACAGTCTGGGTCTTTGGCAACCACATTTTCAGAGATTTCAGATGGCTCGCTGACACCAATAGCATTGACTGCTCTCACTCTCAGGACATATTCTTTGTCAGGAACAACACCTTCTTCAACCTTG... | AGTTGGAACTGGGACAGCTCTGAAGGGAACAGGAATGCTTAACTTTTCACCTTCAATAACAATAATGTCATGAGTCTCCAGGTCAATTGTTGGCTTGCCTGTAAGATATCATTCAAAAGAGCAAAAAACAGAGTATGTCAAAATGCAATGCATGAATAAAGGGTATTTTATTAACTATAAAAGACCTTGTGCTCTTACAGTCTGGGTCTTTGGCAACCACATTTTCAGAGATTTCAGATGGCTCGCTGACACCAATAGCATTGACTGCTCTCACTCTCAGGACATATTCTTTGTCAGGAACAACACCTTCTTCAACCTTG... | pathogenic | 50,050 |
Mutation at chromosome 2, position 178614081, within TTN: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | TTTATGAATTAATTCAAATTCTACCTCTGTATTGGTCTTCCACCATCATTTTTAGGTGGCTCCCACTTTAGGTCAACATGTCGTTTTGTCACATCAACCACTGCCAGGGCGTAGGGTGGTCCAGGAGTGGCTGAAAATAAAATAAACAATGATTAGGAAAACCAGAGGAAAGGTGATAATCTCCTGTCACAAAAATTAAGTGCGAGAGCACTTATTGTCACAAAGATTAAGTGCAAGAGCATACTAAAGGTGTCTTTGGCCAGCACAGAGTCCTCAATTTCGGTGTAGTCGCTTTGTCCTATAGCATTTTCTGCAGCAAC... | TTTATGAATTAATTCAAATTCTACCTCTGTATTGGTCTTCCACCATCATTTTTAGGTGGCTCCCACTTTAGGTCAACATGTCGTTTTGTCACATCAACCACTGCCAGGGCGTAGGGTGGTCCAGGAGTGGCTGAAAATAAAATAAACAATGATTAGGAAAACCAGAGGAAAGGTGATAATCTCCTGTCACAAAAATTAAGTGCGAGAGCACTTATTGTCACAAAGATTAAGTGCAAGAGCATACTAAAGGTGTCTTTGGCCAGCACAGAGTCCTCAATTTCGGTGTAGTCGCTTTGTCCTATAGCATTTTCTGCAGCAAC... | pathogenic | 50,067 |
Is the genetic variant on chromosome 2, position 178614294, gene TTN, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | ATTGTCACAAAGATTAAGTGCAAGAGCATACTAAAGGTGTCTTTGGCCAGCACAGAGTCCTCAATTTCGGTGTAGTCGCTTTGTCCTATAGCATTTTCTGCAGCAACTCGGAACACATATAAAGAGCCCTCAGTCAGTGGGGTGACTGTGCACTTGGTGTCCTTGACAGTGGTATCCACTGTTTGCCAGCCTTTTCGCCTGACGTCTCTCTTTTCCACAATGTAGTTGGTGATGGGGGACCCTCCATCTTTCTCAGGAACTGTCCATTTTAGGTCTGCTGTATTTTTTGTGATATTAATAACTTCAAGCCAGCGTGGTGG... | ATTGTCACAAAGATTAAGTGCAAGAGCATACTAAAGGTGTCTTTGGCCAGCACAGAGTCCTCAATTTCGGTGTAGTCGCTTTGTCCTATAGCATTTTCTGCAGCAACTCGGAACACATATAAAGAGCCCTCAGTCAGTGGGGTGACTGTGCACTTGGTGTCCTTGACAGTGGTATCCACTGTTTGCCAGCCTTTTCGCCTGACGTCTCTCTTTTCCACAATGTAGTTGGTGATGGGGGACCCTCCATCTTTCTCAGGAACTGTCCATTTTAGGTCTGCTGTATTTTTTGTGATATTAATAACTTCAAGCCAGCGTGGTGG... | pathogenic | 50,076 |
Regarding the variant found on chromosome 2 at position 178614509 in gene TTN: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CACAATGTAGTTGGTGATGGGGGACCCTCCATCTTTCTCAGGAACTGTCCATTTTAGGTCTGCTGTATTTTTTGTGATATTAATAACTTCAAGCCAGCGTGGTGGTGATGGAGGATCTGAAAAAGAAGGAAGGAAAACAAATTCATTTTTTTTTTTATTACCCAATAGTCAGTCTGAAAGTGCAGGCAGTCATTAAGAAGTAATGTAGCCAGGAGGAAATAATAGTAATGAATTTTTCATATTTTCTCATATCGTAGCTCACAGGCAGATATTAGAAGAATTTATATATCCCAGACATCAAGAGTGACTTACATAGCTTC... | CACAATGTAGTTGGTGATGGGGGACCCTCCATCTTTCTCAGGAACTGTCCATTTTAGGTCTGCTGTATTTTTTGTGATATTAATAACTTCAAGCCAGCGTGGTGGTGATGGAGGATCTGAAAAAGAAGGAAGGAAAACAAATTCATTTTTTTTTTTATTACCCAATAGTCAGTCTGAAAGTGCAGGCAGTCATTAAGAAGTAATGTAGCCAGGAGGAAATAATAGTAATGAATTTTTCATATTTTCTCATATCGTAGCTCACAGGCAGATATTAGAAGAATTTATATATCCCAGACATCAAGAGTGACTTACATAGCTTC... | pathogenic | 50,083 |
Considering the variant on chromosome 2, location 178614650, involving gene TTN, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Primary_dilated_cardiomyopathy'] | TTCATTTTTTTTTTTATTACCCAATAGTCAGTCTGAAAGTGCAGGCAGTCATTAAGAAGTAATGTAGCCAGGAGGAAATAATAGTAATGAATTTTTCATATTTTCTCATATCGTAGCTCACAGGCAGATATTAGAAGAATTTATATATCCCAGACATCAAGAGTGACTTACATAGCTTCTCCCGGCAAAGCACAGGGTCACTGGGTTCACTGGGTTCACTTTCCCCAGCCTTATTCACAGCTCTAACTCGGAATGAGTATTCCTGTCCTTCCATGAGCCCTGGGAGCAAGTGCTGAGTGGTGGGAACCCCTTCCGCCACT... | TTCATTTTTTTTTTTATTACCCAATAGTCAGTCTGAAAGTGCAGGCAGTCATTAAGAAGTAATGTAGCCAGGAGGAAATAATAGTAATGAATTTTTCATATTTTCTCATATCGTAGCTCACAGGCAGATATTAGAAGAATTTATATATCCCAGACATCAAGAGTGACTTACATAGCTTCTCCCGGCAAAGCACAGGGTCACTGGGTTCACTGGGTTCACTTTCCCCAGCCTTATTCACAGCTCTAACTCGGAATGAGTATTCCTGTCCTTCCATGAGCCCTGGGAGCAAGTGCTGAGTGGTGGGAACCCCTTCCGCCACT... | pathogenic | 50,089 |
Assess the variant on chromosome 2, position 178615305, impacting TTN: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TATTAGTGAGACCTTTCACTCTGAATTAGGAACAAAGTGCATGTGTATCATCATGGTAAGAAGCAGAAGAAGCCTATGTTTATTTTACACAGAAGAGACTAATTTATTTAAATTGTGAAAAGGTGATTTGGAAATTTAACTGAAAAGCACTTCAATATAAATTAAAAATTGCTTTTTAACTGCCACACACTTTAGACTGGGCCAAACATACCAATCTAATTATAATATCTATGACAGTGGTCATTATCATAATATACTGGGGGATCAAACACTTTGAAACTTCCTGAAGGTTAATATTTTAGAGTAAACTAAGAAATGTG... | TATTAGTGAGACCTTTCACTCTGAATTAGGAACAAAGTGCATGTGTATCATCATGGTAAGAAGCAGAAGAAGCCTATGTTTATTTTACACAGAAGAGACTAATTTATTTAAATTGTGAAAAGGTGATTTGGAAATTTAACTGAAAAGCACTTCAATATAAATTAAAAATTGCTTTTTAACTGCCACACACTTTAGACTGGGCCAAACATACCAATCTAATTATAATATCTATGACAGTGGTCATTATCATAATATACTGGGGGATCAAACACTTTGAAACTTCCTGAAGGTTAATATTTTAGAGTAAACTAAGAAATGTG... | pathogenic | 50,108 |
A mutation at chromosome position 178615315 on chromosome 2 in gene TTN: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | ACCTTTCACTCTGAATTAGGAACAAAGTGCATGTGTATCATCATGGTAAGAAGCAGAAGAAGCCTATGTTTATTTTACACAGAAGAGACTAATTTATTTAAATTGTGAAAAGGTGATTTGGAAATTTAACTGAAAAGCACTTCAATATAAATTAAAAATTGCTTTTTAACTGCCACACACTTTAGACTGGGCCAAACATACCAATCTAATTATAATATCTATGACAGTGGTCATTATCATAATATACTGGGGGATCAAACACTTTGAAACTTCCTGAAGGTTAATATTTTAGAGTAAACTAAGAAATGTGCCCTTGAATG... | ACCTTTCACTCTGAATTAGGAACAAAGTGCATGTGTATCATCATGGTAAGAAGCAGAAGAAGCCTATGTTTATTTTACACAGAAGAGACTAATTTATTTAAATTGTGAAAAGGTGATTTGGAAATTTAACTGAAAAGCACTTCAATATAAATTAAAAATTGCTTTTTAACTGCCACACACTTTAGACTGGGCCAAACATACCAATCTAATTATAATATCTATGACAGTGGTCATTATCATAATATACTGGGGGATCAAACACTTTGAAACTTCCTGAAGGTTAATATTTTAGAGTAAACTAAGAAATGTGCCCTTGAATG... | pathogenic | 50,110 |
Located at chromosome 2 position 178615442, the variant affecting gene TTN—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AACTGAAAAGCACTTCAATATAAATTAAAAATTGCTTTTTAACTGCCACACACTTTAGACTGGGCCAAACATACCAATCTAATTATAATATCTATGACAGTGGTCATTATCATAATATACTGGGGGATCAAACACTTTGAAACTTCCTGAAGGTTAATATTTTAGAGTAAACTAAGAAATGTGCCCTTGAATGGAATTTATATAATTTTTCAAATTATGAGGTAATAGAAAATATGAGTAAAAGTAGTTTAAAATTTTTTTAGTAATATATAATCATCTGTAATCCCAAGGAATACTAAAGAGTAAACATTTGAATATAC... | AACTGAAAAGCACTTCAATATAAATTAAAAATTGCTTTTTAACTGCCACACACTTTAGACTGGGCCAAACATACCAATCTAATTATAATATCTATGACAGTGGTCATTATCATAATATACTGGGGGATCAAACACTTTGAAACTTCCTGAAGGTTAATATTTTAGAGTAAACTAAGAAATGTGCCCTTGAATGGAATTTATATAATTTTTCAAATTATGAGGTAATAGAAAATATGAGTAAAAGTAGTTTAAAATTTTTTTAGTAATATATAATCATCTGTAATCCCAAGGAATACTAAAGAGTAAACATTTGAATATAC... | pathogenic | 50,118 |
A genetic alteration at chromosome 2, position 178615704, in gene TTN—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Early-onset_myopathy_with_fatal_cardiomyopathy'] | GTAATATATAATCATCTGTAATCCCAAGGAATACTAAAGAGTAAACATTTGAATATACTGCTGTCTTAACATCTTGATGGGGATTCTGAGCATACCTGTATGTTGTGTCCTTTACTGGCATCTTATTGCATCTAACCCATTTATCTGTATCAGGATCCAGTCTTTCAACCCAGTATCCTGTGATTGGGCTGCCACCATCATCATCTGGCTCACACCATGTGAGAGTCACTGCGTCTTTAGTGATATCAGAAGGTTCTAGGCGAGTTGGAGGACCAGGTGGATCTATAGACAGGATAATGGTGTAAAATGTTATATGTCCT... | GTAATATATAATCATCTGTAATCCCAAGGAATACTAAAGAGTAAACATTTGAATATACTGCTGTCTTAACATCTTGATGGGGATTCTGAGCATACCTGTATGTTGTGTCCTTTACTGGCATCTTATTGCATCTAACCCATTTATCTGTATCAGGATCCAGTCTTTCAACCCAGTATCCTGTGATTGGGCTGCCACCATCATCATCTGGCTCACACCATGTGAGAGTCACTGCGTCTTTAGTGATATCAGAAGGTTCTAGGCGAGTTGGAGGACCAGGTGGATCTATAGACAGGATAATGGTGTAAAATGTTATATGTCCT... | pathogenic | 50,126 |
Regarding the variant found on chromosome 2 at position 178615718 in gene TTN: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | TCTGTAATCCCAAGGAATACTAAAGAGTAAACATTTGAATATACTGCTGTCTTAACATCTTGATGGGGATTCTGAGCATACCTGTATGTTGTGTCCTTTACTGGCATCTTATTGCATCTAACCCATTTATCTGTATCAGGATCCAGTCTTTCAACCCAGTATCCTGTGATTGGGCTGCCACCATCATCATCTGGCTCACACCATGTGAGAGTCACTGCGTCTTTAGTGATATCAGAAGGTTCTAGGCGAGTTGGAGGACCAGGTGGATCTATAGACAGGATAATGGTGTAAAATGTTATATGTCCTGTATATAAATATGA... | TCTGTAATCCCAAGGAATACTAAAGAGTAAACATTTGAATATACTGCTGTCTTAACATCTTGATGGGGATTCTGAGCATACCTGTATGTTGTGTCCTTTACTGGCATCTTATTGCATCTAACCCATTTATCTGTATCAGGATCCAGTCTTTCAACCCAGTATCCTGTGATTGGGCTGCCACCATCATCATCTGGCTCACACCATGTGAGAGTCACTGCGTCTTTAGTGATATCAGAAGGTTCTAGGCGAGTTGGAGGACCAGGTGGATCTATAGACAGGATAATGGTGTAAAATGTTATATGTCCTGTATATAAATATGA... | pathogenic | 50,127 |
Considering the genetic mutation at chromosome 2, position 178615766, impacting TTN: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | GTCTTAACATCTTGATGGGGATTCTGAGCATACCTGTATGTTGTGTCCTTTACTGGCATCTTATTGCATCTAACCCATTTATCTGTATCAGGATCCAGTCTTTCAACCCAGTATCCTGTGATTGGGCTGCCACCATCATCATCTGGCTCACACCATGTGAGAGTCACTGCGTCTTTAGTGATATCAGAAGGTTCTAGGCGAGTTGGAGGACCAGGTGGATCTATAGACAGGATAATGGTGTAAAATGTTATATGTCCTGTATATAAATATGACACCAAAATGCAAGTTTGACATAAGCATCCTTTTTTTTTTATCAGCTG... | GTCTTAACATCTTGATGGGGATTCTGAGCATACCTGTATGTTGTGTCCTTTACTGGCATCTTATTGCATCTAACCCATTTATCTGTATCAGGATCCAGTCTTTCAACCCAGTATCCTGTGATTGGGCTGCCACCATCATCATCTGGCTCACACCATGTGAGAGTCACTGCGTCTTTAGTGATATCAGAAGGTTCTAGGCGAGTTGGAGGACCAGGTGGATCTATAGACAGGATAATGGTGTAAAATGTTATATGTCCTGTATATAAATATGACACCAAAATGCAAGTTTGACATAAGCATCCTTTTTTTTTTATCAGCTG... | pathogenic | 50,128 |
Is the genetic mutation found on chromosome 2 at position 178616526, within the gene TTN, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CTTCCACCACAGCAGTGGCCCGGCCACACACATTCACAGCCTCAATGATATATGTGCCAGTGTCACTTCTCTTACTATCAACAATAGTCACTGTGGATTTCTTAGGGACATTTTCAATGGTAATTCTTTTGTCCTGCTTCAGAATCATATCAGCCTTTGTCCAAGTTATTTTAGGTTCAGGTTTTCCGGTTACGGTGGCAGGAAGTTCAATCTTGGTCCCAGCTTTTACAGTGAGACCAGCAAGGAGCTTCACATCGAGGAAGATTTCTGGGGCCTCTGAATTGGAAAAGATTATTTATGATGTTATCAAGTTCAAGCAG... | CTTCCACCACAGCAGTGGCCCGGCCACACACATTCACAGCCTCAATGATATATGTGCCAGTGTCACTTCTCTTACTATCAACAATAGTCACTGTGGATTTCTTAGGGACATTTTCAATGGTAATTCTTTTGTCCTGCTTCAGAATCATATCAGCCTTTGTCCAAGTTATTTTAGGTTCAGGTTTTCCGGTTACGGTGGCAGGAAGTTCAATCTTGGTCCCAGCTTTTACAGTGAGACCAGCAAGGAGCTTCACATCGAGGAAGATTTCTGGGGCCTCTGAATTGGAAAAGATTATTTATGATGTTATCAAGTTCAAGCAG... | pathogenic | 50,132 |
The mutation in gene TTN at chromosome 2, position 178616539—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AGTGGCCCGGCCACACACATTCACAGCCTCAATGATATATGTGCCAGTGTCACTTCTCTTACTATCAACAATAGTCACTGTGGATTTCTTAGGGACATTTTCAATGGTAATTCTTTTGTCCTGCTTCAGAATCATATCAGCCTTTGTCCAAGTTATTTTAGGTTCAGGTTTTCCGGTTACGGTGGCAGGAAGTTCAATCTTGGTCCCAGCTTTTACAGTGAGACCAGCAAGGAGCTTCACATCGAGGAAGATTTCTGGGGCCTCTGAATTGGAAAAGATTATTTATGATGTTATCAAGTTCAAGCAGATTTAAGGTCAGA... | AGTGGCCCGGCCACACACATTCACAGCCTCAATGATATATGTGCCAGTGTCACTTCTCTTACTATCAACAATAGTCACTGTGGATTTCTTAGGGACATTTTCAATGGTAATTCTTTTGTCCTGCTTCAGAATCATATCAGCCTTTGTCCAAGTTATTTTAGGTTCAGGTTTTCCGGTTACGGTGGCAGGAAGTTCAATCTTGGTCCCAGCTTTTACAGTGAGACCAGCAAGGAGCTTCACATCGAGGAAGATTTCTGGGGCCTCTGAATTGGAAAAGATTATTTATGATGTTATCAAGTTCAAGCAGATTTAAGGTCAGA... | pathogenic | 50,136 |
Mutation found at chromosome 2 position 178616623, gene TTN: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TTTCTTAGGGACATTTTCAATGGTAATTCTTTTGTCCTGCTTCAGAATCATATCAGCCTTTGTCCAAGTTATTTTAGGTTCAGGTTTTCCGGTTACGGTGGCAGGAAGTTCAATCTTGGTCCCAGCTTTTACAGTGAGACCAGCAAGGAGCTTCACATCGAGGAAGATTTCTGGGGCCTCTGAATTGGAAAAGATTATTTATGATGTTATCAAGTTCAAGCAGATTTAAGGTCAGAGGCCTATTTGATAAGACAAAAATCAAAAATAGATACCTTGTGTGTCCACAGCCTGGATTTCCTCTGTGGGTCTGCTTGGTTTGC... | TTTCTTAGGGACATTTTCAATGGTAATTCTTTTGTCCTGCTTCAGAATCATATCAGCCTTTGTCCAAGTTATTTTAGGTTCAGGTTTTCCGGTTACGGTGGCAGGAAGTTCAATCTTGGTCCCAGCTTTTACAGTGAGACCAGCAAGGAGCTTCACATCGAGGAAGATTTCTGGGGCCTCTGAATTGGAAAAGATTATTTATGATGTTATCAAGTTCAAGCAGATTTAAGGTCAGAGGCCTATTTGATAAGACAAAAATCAAAAATAGATACCTTGTGTGTCCACAGCCTGGATTTCCTCTGTGGGTCTGCTTGGTTTGC... | pathogenic | 50,141 |
Considering the genetic mutation at chromosome 2, position 178616746, impacting TTN: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AGCTTTTACAGTGAGACCAGCAAGGAGCTTCACATCGAGGAAGATTTCTGGGGCCTCTGAATTGGAAAAGATTATTTATGATGTTATCAAGTTCAAGCAGATTTAAGGTCAGAGGCCTATTTGATAAGACAAAAATCAAAAATAGATACCTTGTGTGTCCACAGCCTGGATTTCCTCTGTGGGTCTGCTTGGTTTGCTAGCACCCTGCCTGTTTAAGGCCTTCACGCGGTAGGCATACCATTTGCCTTCCTCAAGACCTGTCACTTCCATTCTGTCAGAAAACAGAATAGGATGTTTTACTGTGATGTCGATAATCGTTT... | AGCTTTTACAGTGAGACCAGCAAGGAGCTTCACATCGAGGAAGATTTCTGGGGCCTCTGAATTGGAAAAGATTATTTATGATGTTATCAAGTTCAAGCAGATTTAAGGTCAGAGGCCTATTTGATAAGACAAAAATCAAAAATAGATACCTTGTGTGTCCACAGCCTGGATTTCCTCTGTGGGTCTGCTTGGTTTGCTAGCACCCTGCCTGTTTAAGGCCTTCACGCGGTAGGCATACCATTTGCCTTCCTCAAGACCTGTCACTTCCATTCTGTCAGAAAACAGAATAGGATGTTTTACTGTGATGTCGATAATCGTTT... | pathogenic | 50,142 |
The mutation in gene TTN at chromosome 2, position 178616872—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AGACAAAAATCAAAAATAGATACCTTGTGTGTCCACAGCCTGGATTTCCTCTGTGGGTCTGCTTGGTTTGCTAGCACCCTGCCTGTTTAAGGCCTTCACGCGGTAGGCATACCATTTGCCTTCCTCAAGACCTGTCACTTCCATTCTGTCAGAAAACAGAATAGGATGTTTTACTGTGATGTCGATAATCGTTTCATTGTGTAGTACTCATAATCTTTCAAAAATTCAAACCCCTGGTATAATACTAGTCTTTAAATTAAACCTGGATTACTTCAACACTATAACTGAATACATTTTCATTTCAATACTGTCATGAAAAC... | AGACAAAAATCAAAAATAGATACCTTGTGTGTCCACAGCCTGGATTTCCTCTGTGGGTCTGCTTGGTTTGCTAGCACCCTGCCTGTTTAAGGCCTTCACGCGGTAGGCATACCATTTGCCTTCCTCAAGACCTGTCACTTCCATTCTGTCAGAAAACAGAATAGGATGTTTTACTGTGATGTCGATAATCGTTTCATTGTGTAGTACTCATAATCTTTCAAAAATTCAAACCCCTGGTATAATACTAGTCTTTAAATTAAACCTGGATTACTTCAACACTATAACTGAATACATTTTCATTTCAATACTGTCATGAAAAC... | pathogenic | 50,148 |
The mutation impacting TTN on chromosome 2 at position 178617003: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CTGTCACTTCCATTCTGTCAGAAAACAGAATAGGATGTTTTACTGTGATGTCGATAATCGTTTCATTGTGTAGTACTCATAATCTTTCAAAAATTCAAACCCCTGGTATAATACTAGTCTTTAAATTAAACCTGGATTACTTCAACACTATAACTGAATACATTTTCATTTCAATACTGTCATGAAAACCCTGAGCAGGCAGTACATTCAGCAGCACCTTTAAAAATCAGACAGATACACCGGCAGCATAGGATTCTCAATGAAAAAAGACAAACATTTAAATTTTCCCCAACAAAGCCCATTTTAGTGACTAGGAGTAC... | CTGTCACTTCCATTCTGTCAGAAAACAGAATAGGATGTTTTACTGTGATGTCGATAATCGTTTCATTGTGTAGTACTCATAATCTTTCAAAAATTCAAACCCCTGGTATAATACTAGTCTTTAAATTAAACCTGGATTACTTCAACACTATAACTGAATACATTTTCATTTCAATACTGTCATGAAAACCCTGAGCAGGCAGTACATTCAGCAGCACCTTTAAAAATCAGACAGATACACCGGCAGCATAGGATTCTCAATGAAAAAAGACAAACATTTAAATTTTCCCCAACAAAGCCCATTTTAGTGACTAGGAGTAC... | pathogenic | 50,153 |
Evaluate if the mutation on chromosome 2 at position 178617186 in TTN is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_familial_dilated_cardiomyopathy'] | GAAAACCCTGAGCAGGCAGTACATTCAGCAGCACCTTTAAAAATCAGACAGATACACCGGCAGCATAGGATTCTCAATGAAAAAAGACAAACATTTAAATTTTCCCCAACAAAGCCCATTTTAGTGACTAGGAGTACACATTTACTCTCATGCCAAATTAAAAACCTACTTTGTTTCTGCAACAGGTTCTCCACAGGCAACCCATTTATCAGAACCACGTGGACATCTTTCAACTATATATCCTTTGATGCGTGAACCACCATCATTTTTAGGTGGATCCCATGTTAAGAAGATGCTATTGGCTGTTCGATCTCTCCATT... | GAAAACCCTGAGCAGGCAGTACATTCAGCAGCACCTTTAAAAATCAGACAGATACACCGGCAGCATAGGATTCTCAATGAAAAAAGACAAACATTTAAATTTTCCCCAACAAAGCCCATTTTAGTGACTAGGAGTACACATTTACTCTCATGCCAAATTAAAAACCTACTTTGTTTCTGCAACAGGTTCTCCACAGGCAACCCATTTATCAGAACCACGTGGACATCTTTCAACTATATATCCTTTGATGCGTGAACCACCATCATTTTTAGGTGGATCCCATGTTAAGAAGATGCTATTGGCTGTTCGATCTCTCCATT... | pathogenic | 50,159 |
The genetic variant at chromosome 2, position 178617852, affecting gene TTN: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Non-compaction_cardiomyopathy'] | ACAGTTAATCAGTTATTTCCAAAAAACCCTTTCGCCAACCCAAAAGATTTTTACCATGACCAGGGATACAAACTGCAGTTGTTTTGAATGCTAGGGATTATTCTTACATTAATTTCATATTAGGGAAAATTGCAAAGTAGGATACATGATAATATTTGACTCAATATAAGAAAAACTGCTTCATAGTTTGTACACATGAAAAAAGATGGCAAATGAGGTGTTGATTCTACCAGTTTGCTTATCAGAAATATGATTTTAATTCAGGGTAAAGAATAGTAACTAATATAAACACAAGGAAATAATGGCTGATTAGGTCAACT... | ACAGTTAATCAGTTATTTCCAAAAAACCCTTTCGCCAACCCAAAAGATTTTTACCATGACCAGGGATACAAACTGCAGTTGTTTTGAATGCTAGGGATTATTCTTACATTAATTTCATATTAGGGAAAATTGCAAAGTAGGATACATGATAATATTTGACTCAATATAAGAAAAACTGCTTCATAGTTTGTACACATGAAAAAAGATGGCAAATGAGGTGTTGATTCTACCAGTTTGCTTATCAGAAATATGATTTTAATTCAGGGTAAAGAATAGTAACTAATATAAACACAAGGAAATAATGGCTGATTAGGTCAACT... | pathogenic | 50,177 |
Is the genetic mutation found on chromosome 2 at position 178617862, within the gene TTN, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AGTTATTTCCAAAAAACCCTTTCGCCAACCCAAAAGATTTTTACCATGACCAGGGATACAAACTGCAGTTGTTTTGAATGCTAGGGATTATTCTTACATTAATTTCATATTAGGGAAAATTGCAAAGTAGGATACATGATAATATTTGACTCAATATAAGAAAAACTGCTTCATAGTTTGTACACATGAAAAAAGATGGCAAATGAGGTGTTGATTCTACCAGTTTGCTTATCAGAAATATGATTTTAATTCAGGGTAAAGAATAGTAACTAATATAAACACAAGGAAATAATGGCTGATTAGGTCAACTAAGGTATTCT... | AGTTATTTCCAAAAAACCCTTTCGCCAACCCAAAAGATTTTTACCATGACCAGGGATACAAACTGCAGTTGTTTTGAATGCTAGGGATTATTCTTACATTAATTTCATATTAGGGAAAATTGCAAAGTAGGATACATGATAATATTTGACTCAATATAAGAAAAACTGCTTCATAGTTTGTACACATGAAAAAAGATGGCAAATGAGGTGTTGATTCTACCAGTTTGCTTATCAGAAATATGATTTTAATTCAGGGTAAAGAATAGTAACTAATATAAACACAAGGAAATAATGGCTGATTAGGTCAACTAAGGTATTCT... | pathogenic | 50,179 |
Does the chromosome 2 mutation at position 178618269 within gene TTN classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | ACCAAGTCAGTAGGGAATTTTTTTTTTTATTACAAATTTGGTAAGGCTCACAAGACAAGACAATTACAATTATACAATCCTTGGTTGAGCTACCTCAGGAAGCATTAGCACCGATGCATTCTTAAAAAGTTTTTGTACATTTTCAGTGAGGTAAAGGTAAGAAGTTGTAGCACATAAGACTTTTGTATGGCATCCCAACCTTCTGGGATTTCCCCTACTCTCATTTTTGGCATTGATGCAGTGCTGCTCAAAACTCACTTTAGTCCATGTTTTCCGGCTGACTTCTCGTTTTTCAACAACGTATCCAGTTAACGGACTTC... | ACCAAGTCAGTAGGGAATTTTTTTTTTTATTACAAATTTGGTAAGGCTCACAAGACAAGACAATTACAATTATACAATCCTTGGTTGAGCTACCTCAGGAAGCATTAGCACCGATGCATTCTTAAAAAGTTTTTGTACATTTTCAGTGAGGTAAAGGTAAGAAGTTGTAGCACATAAGACTTTTGTATGGCATCCCAACCTTCTGGGATTTCCCCTACTCTCATTTTTGGCATTGATGCAGTGCTGCTCAAAACTCACTTTAGTCCATGTTTTCCGGCTGACTTCTCGTTTTTCAACAACGTATCCAGTTAACGGACTTC... | pathogenic | 50,186 |
Gene TTN variant at chromosome 2, position 178618314—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | GCTCACAAGACAAGACAATTACAATTATACAATCCTTGGTTGAGCTACCTCAGGAAGCATTAGCACCGATGCATTCTTAAAAAGTTTTTGTACATTTTCAGTGAGGTAAAGGTAAGAAGTTGTAGCACATAAGACTTTTGTATGGCATCCCAACCTTCTGGGATTTCCCCTACTCTCATTTTTGGCATTGATGCAGTGCTGCTCAAAACTCACTTTAGTCCATGTTTTCCGGCTGACTTCTCGTTTTTCAACAACGTATCCAGTTAACGGACTTCCTCCATCATCATCAGGTGGTTCCCAAGTCAAATGTACTGAGTCCT... | GCTCACAAGACAAGACAATTACAATTATACAATCCTTGGTTGAGCTACCTCAGGAAGCATTAGCACCGATGCATTCTTAAAAAGTTTTTGTACATTTTCAGTGAGGTAAAGGTAAGAAGTTGTAGCACATAAGACTTTTGTATGGCATCCCAACCTTCTGGGATTTCCCCTACTCTCATTTTTGGCATTGATGCAGTGCTGCTCAAAACTCACTTTAGTCCATGTTTTCCGGCTGACTTCTCGTTTTTCAACAACGTATCCAGTTAACGGACTTCCTCCATCATCATCAGGTGGTTCCCAAGTCAAATGTACTGAGTCCT... | pathogenic | 50,187 |
The mutation impacting TTN on chromosome 2 at position 178618319: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CAAGACAAGACAATTACAATTATACAATCCTTGGTTGAGCTACCTCAGGAAGCATTAGCACCGATGCATTCTTAAAAAGTTTTTGTACATTTTCAGTGAGGTAAAGGTAAGAAGTTGTAGCACATAAGACTTTTGTATGGCATCCCAACCTTCTGGGATTTCCCCTACTCTCATTTTTGGCATTGATGCAGTGCTGCTCAAAACTCACTTTAGTCCATGTTTTCCGGCTGACTTCTCGTTTTTCAACAACGTATCCAGTTAACGGACTTCCTCCATCATCATCAGGTGGTTCCCAAGTCAAATGTACTGAGTCCTTGGTT... | CAAGACAAGACAATTACAATTATACAATCCTTGGTTGAGCTACCTCAGGAAGCATTAGCACCGATGCATTCTTAAAAAGTTTTTGTACATTTTCAGTGAGGTAAAGGTAAGAAGTTGTAGCACATAAGACTTTTGTATGGCATCCCAACCTTCTGGGATTTCCCCTACTCTCATTTTTGGCATTGATGCAGTGCTGCTCAAAACTCACTTTAGTCCATGTTTTCCGGCTGACTTCTCGTTTTTCAACAACGTATCCAGTTAACGGACTTCCTCCATCATCATCAGGTGGTTCCCAAGTCAAATGTACTGAGTCCTTGGTT... | pathogenic | 50,189 |
Gene TTN variant at chromosome position 178618792 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Tip-toe_gait'] | CAATTTCCCCAGAAATTGTTTTCACACGGTTTTCTAATTTCAGTGTATAAATGCCCTTGTCTGAACGTTCACTTGGAGAAATGACAAGTTCGGCATAGGCAGACAAGGTCTTCATTTTCACCCGGTCCCCTGTTTCTAGTACTTTATCTCCAAAACACCAGGTTGCAGTTGGCCTTGGATAGCCTGTACTTGGAACCAGGATCGTGATAGGATTTGGGACAATAACTTCCAGACCATCTTTAAATGCACTTAAATCCATTGTTGGTTCAACTACAAAGAAGAAAAGTTAATGAGTTTGCAGTGCCATATTTAAGTCCCTG... | CAATTTCCCCAGAAATTGTTTTCACACGGTTTTCTAATTTCAGTGTATAAATGCCCTTGTCTGAACGTTCACTTGGAGAAATGACAAGTTCGGCATAGGCAGACAAGGTCTTCATTTTCACCCGGTCCCCTGTTTCTAGTACTTTATCTCCAAAACACCAGGTTGCAGTTGGCCTTGGATAGCCTGTACTTGGAACCAGGATCGTGATAGGATTTGGGACAATAACTTCCAGACCATCTTTAAATGCACTTAAATCCATTGTTGGTTCAACTACAAAGAAGAAAAGTTAATGAGTTTGCAGTGCCATATTTAAGTCCCTG... | pathogenic | 50,204 |
Determine whether the variant at chromosome 2, position 178618870, in gene TTN is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AAATGACAAGTTCGGCATAGGCAGACAAGGTCTTCATTTTCACCCGGTCCCCTGTTTCTAGTACTTTATCTCCAAAACACCAGGTTGCAGTTGGCCTTGGATAGCCTGTACTTGGAACCAGGATCGTGATAGGATTTGGGACAATAACTTCCAGACCATCTTTAAATGCACTTAAATCCATTGTTGGTTCAACTACAAAGAAGAAAAGTTAATGAGTTTGCAGTGCCATATTTAAGTCCCTGTTGCCCCAAAGTAGCTATGTGCTATTCCCCGATCTAAAAATAAAATATCTATTTACCAAATGCATCGTCAGCGGTGAG... | AAATGACAAGTTCGGCATAGGCAGACAAGGTCTTCATTTTCACCCGGTCCCCTGTTTCTAGTACTTTATCTCCAAAACACCAGGTTGCAGTTGGCCTTGGATAGCCTGTACTTGGAACCAGGATCGTGATAGGATTTGGGACAATAACTTCCAGACCATCTTTAAATGCACTTAAATCCATTGTTGGTTCAACTACAAAGAAGAAAAGTTAATGAGTTTGCAGTGCCATATTTAAGTCCCTGTTGCCCCAAAGTAGCTATGTGCTATTCCCCGATCTAAAAATAAAATATCTATTTACCAAATGCATCGTCAGCGGTGAG... | benign | 50,211 |
Variant at chromosome 2, position 178619645, gene TTN: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CATTAACAGGTTTATCAAATTCACTAAGTAAAGTAGGCACAGTCTGGGTTTCTAAAACTTTATCCAAATTTTTATGATATTCTACCTTTTTATTAACTTTCATTTAACTTGATTTATTTTAATTGATAGGCCTAATATCTGGATTTCATGCAGTAATTATTTCCCTTTTTTGATGGGCTTACCAATTGGATCAGCAACTTTGACGAAGGGTGTGGCTGCACTTGGTTTTCCAACTCCAATTCGATTTTGGGCTCTCACTCGGAAACTGTACTCCTGTCCTTCTACCACATCAGTAACAGTTGCAGACAGGTCTTCAGCTC... | CATTAACAGGTTTATCAAATTCACTAAGTAAAGTAGGCACAGTCTGGGTTTCTAAAACTTTATCCAAATTTTTATGATATTCTACCTTTTTATTAACTTTCATTTAACTTGATTTATTTTAATTGATAGGCCTAATATCTGGATTTCATGCAGTAATTATTTCCCTTTTTTGATGGGCTTACCAATTGGATCAGCAACTTTGACGAAGGGTGTGGCTGCACTTGGTTTTCCAACTCCAATTCGATTTTGGGCTCTCACTCGGAAACTGTACTCCTGTCCTTCTACCACATCAGTAACAGTTGCAGACAGGTCTTCAGCTC... | pathogenic | 50,215 |
Determine if the mutation at chromosome 2, position 178619799 in gene TTN is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AATTATTTCCCTTTTTTGATGGGCTTACCAATTGGATCAGCAACTTTGACGAAGGGTGTGGCTGCACTTGGTTTTCCAACTCCAATTCGATTTTGGGCTCTCACTCGGAAACTGTACTCCTGTCCTTCTACCACATCAGTAACAGTTGCAGACAGGTCTTCAGCTCTCACAGTCATGGCAGTATCCCACCTGATAGAAGTCTTGTCTCTTAATTCAATGACGTAGTTTGTGATCTCAGCACCTCCATCATACTCTGGTGGTTCCCATGTCAGTGAGACACCAAATCGATTCACATCAGTGATGGTTACATTCAAAGGAGG... | AATTATTTCCCTTTTTTGATGGGCTTACCAATTGGATCAGCAACTTTGACGAAGGGTGTGGCTGCACTTGGTTTTCCAACTCCAATTCGATTTTGGGCTCTCACTCGGAAACTGTACTCCTGTCCTTCTACCACATCAGTAACAGTTGCAGACAGGTCTTCAGCTCTCACAGTCATGGCAGTATCCCACCTGATAGAAGTCTTGTCTCTTAATTCAATGACGTAGTTTGTGATCTCAGCACCTCCATCATACTCTGGTGGTTCCCATGTCAGTGAGACACCAAATCGATTCACATCAGTGATGGTTACATTCAAAGGAGG... | pathogenic | 50,221 |
Clinical significance of chromosome 2, position 178620041, gene TTN: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TCCATCATACTCTGGTGGTTCCCATGTCAGTGAGACACCAAATCGATTCACATCAGTGATGGTTACATTCAAAGGAGGGCCTGGAACATCTGGATTTCACCACAGAAGAAGAAAATATGAGTTTGGGGTAACGATGATGAAGGCAAAGACTGCAATTTACTTAAAAGCTAACTTGAATTTACTTAAAACTTCTTACCATATTTACTCCTTGCTTCTACAGGATTGTCAGTTTCTACTGGCTCACCAGTGCCAACTCTGTTTCTTGCACTCACACGGAATAGGTACTCAACTCCTCCTTTCTGTAGACCAGTGACAGTAAA... | TCCATCATACTCTGGTGGTTCCCATGTCAGTGAGACACCAAATCGATTCACATCAGTGATGGTTACATTCAAAGGAGGGCCTGGAACATCTGGATTTCACCACAGAAGAAGAAAATATGAGTTTGGGGTAACGATGATGAAGGCAAAGACTGCAATTTACTTAAAAGCTAACTTGAATTTACTTAAAACTTCTTACCATATTTACTCCTTGCTTCTACAGGATTGTCAGTTTCTACTGGCTCACCAGTGCCAACTCTGTTTCTTGCACTCACACGGAATAGGTACTCAACTCCTCCTTTCTGTAGACCAGTGACAGTAAA... | pathogenic | 50,228 |
Is the chromosome 2, position 178620756 variant in TTN (titin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G'] | ATCAATGGTTTTTGTAGATAAAGGTTCATTTTCTTTAAACCATTCAGCTTCTGCTTTGGGGTAGGCATCATATGGCACCACCATTGTCAGAGGCTTGCCAACATCAACCACAAGGTCTTGGTCAGCTGTCTTGATTTTTGGTGCAGCTAGTGAGAAAGATAACATGTGAACGCTTTCGACTATTAAACGTAGCCAAGCTACATCATGTTATTATGCATTTATTAGAAAATATTGGTTACATAACCTTGGAAGTAAGCTACAGTAACTTTATAGCAGAGAAAACTAAGTGGCTTAGAGTTCTCATAGCTTTTTGTTGTTGT... | ATCAATGGTTTTTGTAGATAAAGGTTCATTTTCTTTAAACCATTCAGCTTCTGCTTTGGGGTAGGCATCATATGGCACCACCATTGTCAGAGGCTTGCCAACATCAACCACAAGGTCTTGGTCAGCTGTCTTGATTTTTGGTGCAGCTAGTGAGAAAGATAACATGTGAACGCTTTCGACTATTAAACGTAGCCAAGCTACATCATGTTATTATGCATTTATTAGAAAATATTGGTTACATAACCTTGGAAGTAAGCTACAGTAACTTTATAGCAGAGAAAACTAAGTGGCTTAGAGTTCTCATAGCTTTTTGTTGTTGT... | pathogenic | 50,250 |
Mutation found at chromosome 2 position 178620845, gene TTN (titin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | GAGGCTTGCCAACATCAACCACAAGGTCTTGGTCAGCTGTCTTGATTTTTGGTGCAGCTAGTGAGAAAGATAACATGTGAACGCTTTCGACTATTAAACGTAGCCAAGCTACATCATGTTATTATGCATTTATTAGAAAATATTGGTTACATAACCTTGGAAGTAAGCTACAGTAACTTTATAGCAGAGAAAACTAAGTGGCTTAGAGTTCTCATAGCTTTTTGTTGTTGTTGTGCGTGCAAATTAGATTGGAGAGTAGAGGATTGAGAATGGCATAAAATCATAAGACATGCATTCCTTGCCAAAAATAGTAACATAGG... | GAGGCTTGCCAACATCAACCACAAGGTCTTGGTCAGCTGTCTTGATTTTTGGTGCAGCTAGTGAGAAAGATAACATGTGAACGCTTTCGACTATTAAACGTAGCCAAGCTACATCATGTTATTATGCATTTATTAGAAAATATTGGTTACATAACCTTGGAAGTAAGCTACAGTAACTTTATAGCAGAGAAAACTAAGTGGCTTAGAGTTCTCATAGCTTTTTGTTGTTGTTGTGCGTGCAAATTAGATTGGAGAGTAGAGGATTGAGAATGGCATAAAATCATAAGACATGCATTCCTTGCCAAAAATAGTAACATAGG... | pathogenic | 50,256 |
Gene mutation in TTN (titin) at chromosome 2, position 178620934—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | ACTATTAAACGTAGCCAAGCTACATCATGTTATTATGCATTTATTAGAAAATATTGGTTACATAACCTTGGAAGTAAGCTACAGTAACTTTATAGCAGAGAAAACTAAGTGGCTTAGAGTTCTCATAGCTTTTTGTTGTTGTTGTGCGTGCAAATTAGATTGGAGAGTAGAGGATTGAGAATGGCATAAAATCATAAGACATGCATTCCTTGCCAAAAATAGTAACATAGGACTCAGTGTAGTGCAAAACATGTTTTGTTTTGTTTTTTGATAGAGTAGGCACTGCATACTTAGTTCAATAAATCAGAGAAACTTTTTTC... | ACTATTAAACGTAGCCAAGCTACATCATGTTATTATGCATTTATTAGAAAATATTGGTTACATAACCTTGGAAGTAAGCTACAGTAACTTTATAGCAGAGAAAACTAAGTGGCTTAGAGTTCTCATAGCTTTTTGTTGTTGTTGTGCGTGCAAATTAGATTGGAGAGTAGAGGATTGAGAATGGCATAAAATCATAAGACATGCATTCCTTGCCAAAAATAGTAACATAGGACTCAGTGTAGTGCAAAACATGTTTTGTTTTGTTTTTTGATAGAGTAGGCACTGCATACTTAGTTCAATAAATCAGAGAAACTTTTTTC... | pathogenic | 50,260 |
Evaluate the clinical significance of the mutation at chromosome 2, position 178621503 in gene TTN: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Left_ventricular_noncompaction_2'] | ACTCAAGACACTTACTTTGTAGTGAGCAAAATTAGAGTTGTTAACATGTGGGTAGGGCTTGCTAGAAATGAAAGACCCTCACAAGGATTACCTCATTAAATAACTGTGAAATCTGAAATCTAAACTCTGTGATATTGGAAGGATATTTTAAAATAAAGGGACTGACCTGCCAGTTCAAGCTTAGCTCTGGCTTCTTTGTCTTTGGCAATAAATCTGTATTCACCCTGGTCACGGGGCTTAATATCACAAATCTGTAGTCGATGTATCTTTCCTTCACTCATCATCTGGTGTTTATCACCCTGGACAACAACCATGTTATT... | ACTCAAGACACTTACTTTGTAGTGAGCAAAATTAGAGTTGTTAACATGTGGGTAGGGCTTGCTAGAAATGAAAGACCCTCACAAGGATTACCTCATTAAATAACTGTGAAATCTGAAATCTAAACTCTGTGATATTGGAAGGATATTTTAAAATAAAGGGACTGACCTGCCAGTTCAAGCTTAGCTCTGGCTTCTTTGTCTTTGGCAATAAATCTGTATTCACCCTGGTCACGGGGCTTAATATCACAAATCTGTAGTCGATGTATCTTTCCTTCACTCATCATCTGGTGTTTATCACCCTGGACAACAACCATGTTATT... | pathogenic | 50,280 |
A mutation at chromosome position 178621723 on chromosome 2 in gene TTN: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CACCCTGGTCACGGGGCTTAATATCACAAATCTGTAGTCGATGTATCTTTCCTTCACTCATCATCTGGTGTTTATCACCCTGGACAACAACCATGTTATTTCTTAGCCATTGGACTTCCACCTTATCTTTATTGAGTTCTGCTAAAAAGACAACATCAGCACCAGGGGCTTCAAGAATATCTTGTGGAGGCCTGATGATCTCAACAGGAATTTCTGGAAAGAAAATGTGAAATAAATACAAATATGTTTACATTTTGATTAACAATTTTAAAAAATTGGTAACATTAGAATTGTTTTTTCACTTAATATGTACCTTCCAC... | CACCCTGGTCACGGGGCTTAATATCACAAATCTGTAGTCGATGTATCTTTCCTTCACTCATCATCTGGTGTTTATCACCCTGGACAACAACCATGTTATTTCTTAGCCATTGGACTTCCACCTTATCTTTATTGAGTTCTGCTAAAAAGACAACATCAGCACCAGGGGCTTCAAGAATATCTTGTGGAGGCCTGATGATCTCAACAGGAATTTCTGGAAAGAAAATGTGAAATAAATACAAATATGTTTACATTTTGATTAACAATTTTAAAAAATTGGTAACATTAGAATTGTTTTTTCACTTAATATGTACCTTCCAC... | pathogenic | 50,289 |
A genetic alteration at chromosome 2, position 178621755, in gene TTN—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TGTAGTCGATGTATCTTTCCTTCACTCATCATCTGGTGTTTATCACCCTGGACAACAACCATGTTATTTCTTAGCCATTGGACTTCCACCTTATCTTTATTGAGTTCTGCTAAAAAGACAACATCAGCACCAGGGGCTTCAAGAATATCTTGTGGAGGCCTGATGATCTCAACAGGAATTTCTGGAAAGAAAATGTGAAATAAATACAAATATGTTTACATTTTGATTAACAATTTTAAAAAATTGGTAACATTAGAATTGTTTTTTCACTTAATATGTACCTTCCACAAAAAGTCTAGCACGAGACTTCCTGTCTTCTA... | TGTAGTCGATGTATCTTTCCTTCACTCATCATCTGGTGTTTATCACCCTGGACAACAACCATGTTATTTCTTAGCCATTGGACTTCCACCTTATCTTTATTGAGTTCTGCTAAAAAGACAACATCAGCACCAGGGGCTTCAAGAATATCTTGTGGAGGCCTGATGATCTCAACAGGAATTTCTGGAAAGAAAATGTGAAATAAATACAAATATGTTTACATTTTGATTAACAATTTTAAAAAATTGGTAACATTAGAATTGTTTTTTCACTTAATATGTACCTTCCACAAAAAGTCTAGCACGAGACTTCCTGTCTTCTA... | benign | 50,292 |
Located at chromosome 2 position 178629346, the variant affecting gene TTN (titin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TTCCTATTCCTACAGCTTGTTTTTGCTTGTTTGGTTATTGTAGTTTTGAAGGCGAAAATTTTTACATAAAATGAGTATTAAAGTTCGGAATTACATTGACAAGAGCAAGTTTGTTCTGACAGACTTAATTTAAACAAAATCTGCCACATGTAACAAAATGATTTTATTACTTCAAAGTTTATATTTAAGTTCTTTTTGAAAAGAGACATTTAAGTAATGCAAGAGCAAGTTCACAAAAGGCTAAGGTATTTCGGGTGCCTAGAGTAAAGGATTAAAATTCCTATGCCAAAAGAGATGTAAAGGGGCCCTATAGAATTATA... | TTCCTATTCCTACAGCTTGTTTTTGCTTGTTTGGTTATTGTAGTTTTGAAGGCGAAAATTTTTACATAAAATGAGTATTAAAGTTCGGAATTACATTGACAAGAGCAAGTTTGTTCTGACAGACTTAATTTAAACAAAATCTGCCACATGTAACAAAATGATTTTATTACTTCAAAGTTTATATTTAAGTTCTTTTTGAAAAGAGACATTTAAGTAATGCAAGAGCAAGTTCACAAAAGGCTAAGGTATTTCGGGTGCCTAGAGTAAAGGATTAAAATTCCTATGCCAAAAGAGATGTAAAGGGGCCCTATAGAATTATA... | pathogenic | 50,323 |
A mutation at chromosome position 178629360 on chromosome 2 in gene TTN (titin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Primary_dilated_cardiomyopathy'] | GCTTGTTTTTGCTTGTTTGGTTATTGTAGTTTTGAAGGCGAAAATTTTTACATAAAATGAGTATTAAAGTTCGGAATTACATTGACAAGAGCAAGTTTGTTCTGACAGACTTAATTTAAACAAAATCTGCCACATGTAACAAAATGATTTTATTACTTCAAAGTTTATATTTAAGTTCTTTTTGAAAAGAGACATTTAAGTAATGCAAGAGCAAGTTCACAAAAGGCTAAGGTATTTCGGGTGCCTAGAGTAAAGGATTAAAATTCCTATGCCAAAAGAGATGTAAAGGGGCCCTATAGAATTATAGTAAACTGATCCTT... | GCTTGTTTTTGCTTGTTTGGTTATTGTAGTTTTGAAGGCGAAAATTTTTACATAAAATGAGTATTAAAGTTCGGAATTACATTGACAAGAGCAAGTTTGTTCTGACAGACTTAATTTAAACAAAATCTGCCACATGTAACAAAATGATTTTATTACTTCAAAGTTTATATTTAAGTTCTTTTTGAAAAGAGACATTTAAGTAATGCAAGAGCAAGTTCACAAAAGGCTAAGGTATTTCGGGTGCCTAGAGTAAAGGATTAAAATTCCTATGCCAAAAGAGATGTAAAGGGGCCCTATAGAATTATAGTAAACTGATCCTT... | pathogenic | 50,325 |
Variant in gene TTN (titin), located at chromosome 2 position 178629386: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J'] | TAGTTTTGAAGGCGAAAATTTTTACATAAAATGAGTATTAAAGTTCGGAATTACATTGACAAGAGCAAGTTTGTTCTGACAGACTTAATTTAAACAAAATCTGCCACATGTAACAAAATGATTTTATTACTTCAAAGTTTATATTTAAGTTCTTTTTGAAAAGAGACATTTAAGTAATGCAAGAGCAAGTTCACAAAAGGCTAAGGTATTTCGGGTGCCTAGAGTAAAGGATTAAAATTCCTATGCCAAAAGAGATGTAAAGGGGCCCTATAGAATTATAGTAAACTGATCCTTTCTAACCCTAGAAAAAATTTTAGTTA... | TAGTTTTGAAGGCGAAAATTTTTACATAAAATGAGTATTAAAGTTCGGAATTACATTGACAAGAGCAAGTTTGTTCTGACAGACTTAATTTAAACAAAATCTGCCACATGTAACAAAATGATTTTATTACTTCAAAGTTTATATTTAAGTTCTTTTTGAAAAGAGACATTTAAGTAATGCAAGAGCAAGTTCACAAAAGGCTAAGGTATTTCGGGTGCCTAGAGTAAAGGATTAAAATTCCTATGCCAAAAGAGATGTAAAGGGGCCCTATAGAATTATAGTAAACTGATCCTTTCTAACCCTAGAAAAAATTTTAGTTA... | pathogenic | 50,327 |
Regarding the variant found on chromosome 2 at position 178629430 in gene TTN (titin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G'] | TCGGAATTACATTGACAAGAGCAAGTTTGTTCTGACAGACTTAATTTAAACAAAATCTGCCACATGTAACAAAATGATTTTATTACTTCAAAGTTTATATTTAAGTTCTTTTTGAAAAGAGACATTTAAGTAATGCAAGAGCAAGTTCACAAAAGGCTAAGGTATTTCGGGTGCCTAGAGTAAAGGATTAAAATTCCTATGCCAAAAGAGATGTAAAGGGGCCCTATAGAATTATAGTAAACTGATCCTTTCTAACCCTAGAAAAAATTTTAGTTACAATGAGAATTTTTTAAAAATAAAATGTGAATAAGATTTTTAGG... | TCGGAATTACATTGACAAGAGCAAGTTTGTTCTGACAGACTTAATTTAAACAAAATCTGCCACATGTAACAAAATGATTTTATTACTTCAAAGTTTATATTTAAGTTCTTTTTGAAAAGAGACATTTAAGTAATGCAAGAGCAAGTTCACAAAAGGCTAAGGTATTTCGGGTGCCTAGAGTAAAGGATTAAAATTCCTATGCCAAAAGAGATGTAAAGGGGCCCTATAGAATTATAGTAAACTGATCCTTTCTAACCCTAGAAAAAATTTTAGTTACAATGAGAATTTTTTAAAAATAAAATGTGAATAAGATTTTTAGG... | pathogenic | 50,330 |
Clinical significance of chromosome 2, position 178630272, gene TTN (titin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CAAAGCAGTTACTTGAAGGCATTGCTTTCAAATACTTCAGTCAATGCTGTGGCTTTTTGTTAAACTGAATCACTTTTTAATTATATTCCTTTAAGTCTTCAAAGTTTGATTTTTGTTGAGATCTTTATAGCACATTTAATAGTATTTCTGAAATATTGGGGGAATATGTCACAGAACAATGTACTGTCCTGTGCTTTATTTCCAACCCAGGCTGGACATATTCCATATATTTTATTTTAAGAATTCAAAATTAATGATGGATTGTCAAGATAATTTAAAGACATATGTTGTTTCTGGGGACAAAACATATAGATCAATTT... | CAAAGCAGTTACTTGAAGGCATTGCTTTCAAATACTTCAGTCAATGCTGTGGCTTTTTGTTAAACTGAATCACTTTTTAATTATATTCCTTTAAGTCTTCAAAGTTTGATTTTTGTTGAGATCTTTATAGCACATTTAATAGTATTTCTGAAATATTGGGGGAATATGTCACAGAACAATGTACTGTCCTGTGCTTTATTTCCAACCCAGGCTGGACATATTCCATATATTTTATTTTAAGAATTCAAAATTAATGATGGATTGTCAAGATAATTTAAAGACATATGTTGTTTCTGGGGACAAAACATATAGATCAATTT... | pathogenic | 50,335 |
Does the chromosome 2 mutation at position 178632355 within gene TTN (titin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CCAGGCGACAGTTGTGCAAAACAAGGGAGTGTATTTTGCCTTCTTCCTTAATTTCACAATCCTGTACCAACAAAACAGAAAAACTTTCATAGAAAATAATTTTCTTTGAAATTTTGTTCTAAGGATAGATTATCTTAATTAAAGGAATGCAACAAATAAATGGTGATGAAACTTTATATAACTTTGAGCTCTTTTTTTAGGAAGTAAAGCTTACAAGTACTAAGAGGAAAGCCACATTTATTTTAGCTGTATAATTCTGAGCCAACTAGCAGCATCACAGAGTATCTACAACCTTATACTCACTCTGCTGGATCAAAAGT... | CCAGGCGACAGTTGTGCAAAACAAGGGAGTGTATTTTGCCTTCTTCCTTAATTTCACAATCCTGTACCAACAAAACAGAAAAACTTTCATAGAAAATAATTTTCTTTGAAATTTTGTTCTAAGGATAGATTATCTTAATTAAAGGAATGCAACAAATAAATGGTGATGAAACTTTATATAACTTTGAGCTCTTTTTTTAGGAAGTAAAGCTTACAAGTACTAAGAGGAAAGCCACATTTATTTTAGCTGTATAATTCTGAGCCAACTAGCAGCATCACAGAGTATCTACAACCTTATACTCACTCTGCTGGATCAAAAGT... | pathogenic | 50,366 |
The chromosome 2, position 178632384 genetic variant in gene TTN (titin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiomyopathy', 'Dilated_cardiomyopathy_1G'] | TGTATTTTGCCTTCTTCCTTAATTTCACAATCCTGTACCAACAAAACAGAAAAACTTTCATAGAAAATAATTTTCTTTGAAATTTTGTTCTAAGGATAGATTATCTTAATTAAAGGAATGCAACAAATAAATGGTGATGAAACTTTATATAACTTTGAGCTCTTTTTTTAGGAAGTAAAGCTTACAAGTACTAAGAGGAAAGCCACATTTATTTTAGCTGTATAATTCTGAGCCAACTAGCAGCATCACAGAGTATCTACAACCTTATACTCACTCTGCTGGATCAAAAGTAATGCAAGTGTGCCAGTCTGAGCCCATTC... | TGTATTTTGCCTTCTTCCTTAATTTCACAATCCTGTACCAACAAAACAGAAAAACTTTCATAGAAAATAATTTTCTTTGAAATTTTGTTCTAAGGATAGATTATCTTAATTAAAGGAATGCAACAAATAAATGGTGATGAAACTTTATATAACTTTGAGCTCTTTTTTTAGGAAGTAAAGCTTACAAGTACTAAGAGGAAAGCCACATTTATTTTAGCTGTATAATTCTGAGCCAACTAGCAGCATCACAGAGTATCTACAACCTTATACTCACTCTGCTGGATCAAAAGTAATGCAAGTGTGCCAGTCTGAGCCCATTC... | pathogenic | 50,368 |
Evaluate this variant at chromosome 2, position 178632421, gene TTN (titin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CCAACAAAACAGAAAAACTTTCATAGAAAATAATTTTCTTTGAAATTTTGTTCTAAGGATAGATTATCTTAATTAAAGGAATGCAACAAATAAATGGTGATGAAACTTTATATAACTTTGAGCTCTTTTTTTAGGAAGTAAAGCTTACAAGTACTAAGAGGAAAGCCACATTTATTTTAGCTGTATAATTCTGAGCCAACTAGCAGCATCACAGAGTATCTACAACCTTATACTCACTCTGCTGGATCAAAAGTAATGCAAGTGTGCCAGTCTGAGCCCATTCATAGACCCTGACATCTCTCTTTGGCTTAGGGTCTGAT... | CCAACAAAACAGAAAAACTTTCATAGAAAATAATTTTCTTTGAAATTTTGTTCTAAGGATAGATTATCTTAATTAAAGGAATGCAACAAATAAATGGTGATGAAACTTTATATAACTTTGAGCTCTTTTTTTAGGAAGTAAAGCTTACAAGTACTAAGAGGAAAGCCACATTTATTTTAGCTGTATAATTCTGAGCCAACTAGCAGCATCACAGAGTATCTACAACCTTATACTCACTCTGCTGGATCAAAAGTAATGCAAGTGTGCCAGTCTGAGCCCATTCATAGACCCTGACATCTCTCTTTGGCTTAGGGTCTGAT... | benign | 50,370 |
Evaluate if the mutation on chromosome 2 at position 178632751 in TTN (titin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CTATCATGTTTTAAATGTCCTGCATCCACTCTGACTTTCACCTGTTCTTTTCTAATTCACACAGCTCCTTTAGGTGTTGACAAGTTCAGAAATAGCCTTACAGGTGTTTGGAGTAGGGCCTCTCCCTTGAGTTTCCAGTTGGCGTGGATATCATCTTCAGAGATTTCGGTTTCAAAGCGTGCTGTCTCAGTCTCCATCACCTCCACACTGTGCAGGGGTCGCACCAGTTTAATTTCCCGATCTAGAAAAGTGAAGGGCCAGCATGGGTCATTAGCCTCTGGCACAAATAACCCCAATGCTTCAAGAGTGAAACTCATGGA... | CTATCATGTTTTAAATGTCCTGCATCCACTCTGACTTTCACCTGTTCTTTTCTAATTCACACAGCTCCTTTAGGTGTTGACAAGTTCAGAAATAGCCTTACAGGTGTTTGGAGTAGGGCCTCTCCCTTGAGTTTCCAGTTGGCGTGGATATCATCTTCAGAGATTTCGGTTTCAAAGCGTGCTGTCTCAGTCTCCATCACCTCCACACTGTGCAGGGGTCGCACCAGTTTAATTTCCCGATCTAGAAAAGTGAAGGGCCAGCATGGGTCATTAGCCTCTGGCACAAATAACCCCAATGCTTCAAGAGTGAAACTCATGGA... | pathogenic | 50,381 |
Is the genetic change at chromosome 2, position 178633008, within gene TTN (titin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CCAGCATGGGTCATTAGCCTCTGGCACAAATAACCCCAATGCTTCAAGAGTGAAACTCATGGAAATTTCCTTACCCTCAATGTCAAGTTTTCCTGAGGTCTTATCTGTCCCACAGTCACAGGTGTACTGTCCAATATCTGATTTCAAGGCTTTCTTTAGGATTAGCATGCGTTTCTTGCCATCTGCCTTAATAACAGCATTTTTGGATGGCTTTATTTCCTTCCCATCCTTAAACCATTTCACTGGTGCATCTGCTTTGCTAATTTCACACTGTAGAATAACTTCATCTTTCTCTACACCAGTATAATCTTGAAGTTTTC... | CCAGCATGGGTCATTAGCCTCTGGCACAAATAACCCCAATGCTTCAAGAGTGAAACTCATGGAAATTTCCTTACCCTCAATGTCAAGTTTTCCTGAGGTCTTATCTGTCCCACAGTCACAGGTGTACTGTCCAATATCTGATTTCAAGGCTTTCTTTAGGATTAGCATGCGTTTCTTGCCATCTGCCTTAATAACAGCATTTTTGGATGGCTTTATTTCCTTCCCATCCTTAAACCATTTCACTGGTGCATCTGCTTTGCTAATTTCACACTGTAGAATAACTTCATCTTTCTCTACACCAGTATAATCTTGAAGTTTTC... | pathogenic | 50,386 |
Is the variant located on chromosome 2 at position 178633336, gene TTN (titin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TATGGGTCTCCCTCTGCAAGTAAAGTATAAGTGAAAAGCTTTTATTAATCACCTTAGGGAAATGACAATCTCTTGGAAAGTTTAAGACACAACTCACAGAGTTCTGAGTATCTTTTAAAATTGTGTCAAGTGTTCAATCATTTAACCTGTTTATGTTCAAAAGTTCTCTAAATATTAGGAAGGGAATCAGTGTGTGGGATTTATCAAGATCTAATCCATTCATATTGAATTTTGAAACATTTTATTAACAGTAGCTAAAAAGACTGAAATTTAGCTTCAAATACAATTTTGTGTTCCTCCATTATTTGGGTAAATTTCTA... | TATGGGTCTCCCTCTGCAAGTAAAGTATAAGTGAAAAGCTTTTATTAATCACCTTAGGGAAATGACAATCTCTTGGAAAGTTTAAGACACAACTCACAGAGTTCTGAGTATCTTTTAAAATTGTGTCAAGTGTTCAATCATTTAACCTGTTTATGTTCAAAAGTTCTCTAAATATTAGGAAGGGAATCAGTGTGTGGGATTTATCAAGATCTAATCCATTCATATTGAATTTTGAAACATTTTATTAACAGTAGCTAAAAAGACTGAAATTTAGCTTCAAATACAATTTTGTGTTCCTCCATTATTTGGGTAAATTTCTA... | benign | 50,391 |
Gene TTN (titin) variant at chromosome 2, position 178633859—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TGAAAAACATTCCTCTGAAATAATTTTGATAAAATGAAGAGATAGAAAGTATTTATATACTCCTATTTTAAACATGACAGGGCTCAATAATTAATGAAGAATTTTAAGTTGGCTTTTAATTGGCTATTTTGTGGGTGTAAGCTAGAATCTTCATTAACTTATAGTAATGAAGGTAAAGTGTTTTAGAAATAAGCCTGATTACATATGTGATAGCTTCTTAAGGAGTTGGGCTGCTTTCATGCAATATAACACTTAGAAGACTATTTTATAGAATAGATACTCCACAAATTTCTGTTGAATTTAATGCAGTAAAATTAAAA... | TGAAAAACATTCCTCTGAAATAATTTTGATAAAATGAAGAGATAGAAAGTATTTATATACTCCTATTTTAAACATGACAGGGCTCAATAATTAATGAAGAATTTTAAGTTGGCTTTTAATTGGCTATTTTGTGGGTGTAAGCTAGAATCTTCATTAACTTATAGTAATGAAGGTAAAGTGTTTTAGAAATAAGCCTGATTACATATGTGATAGCTTCTTAAGGAGTTGGGCTGCTTTCATGCAATATAACACTTAGAAGACTATTTTATAGAATAGATACTCCACAAATTTCTGTTGAATTTAATGCAGTAAAATTAAAA... | pathogenic | 50,401 |
Is the chromosome 2, position 178633862 variant in TTN (titin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | AAAACATTCCTCTGAAATAATTTTGATAAAATGAAGAGATAGAAAGTATTTATATACTCCTATTTTAAACATGACAGGGCTCAATAATTAATGAAGAATTTTAAGTTGGCTTTTAATTGGCTATTTTGTGGGTGTAAGCTAGAATCTTCATTAACTTATAGTAATGAAGGTAAAGTGTTTTAGAAATAAGCCTGATTACATATGTGATAGCTTCTTAAGGAGTTGGGCTGCTTTCATGCAATATAACACTTAGAAGACTATTTTATAGAATAGATACTCCACAAATTTCTGTTGAATTTAATGCAGTAAAATTAAAATTT... | AAAACATTCCTCTGAAATAATTTTGATAAAATGAAGAGATAGAAAGTATTTATATACTCCTATTTTAAACATGACAGGGCTCAATAATTAATGAAGAATTTTAAGTTGGCTTTTAATTGGCTATTTTGTGGGTGTAAGCTAGAATCTTCATTAACTTATAGTAATGAAGGTAAAGTGTTTTAGAAATAAGCCTGATTACATATGTGATAGCTTCTTAAGGAGTTGGGCTGCTTTCATGCAATATAACACTTAGAAGACTATTTTATAGAATAGATACTCCACAAATTTCTGTTGAATTTAATGCAGTAAAATTAAAATTT... | pathogenic | 50,402 |
A mutation at chromosome position 178634009 on chromosome 2 in gene TTN (titin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Myopathy'] | TCATTAACTTATAGTAATGAAGGTAAAGTGTTTTAGAAATAAGCCTGATTACATATGTGATAGCTTCTTAAGGAGTTGGGCTGCTTTCATGCAATATAACACTTAGAAGACTATTTTATAGAATAGATACTCCACAAATTTCTGTTGAATTTAATGCAGTAAAATTAAAATTTAAAAAGCACTTACCAAGCACAGTGAGTTTAGCTTCTGAACTCATCCCCATAGCTTCTACTCTAATTTGGGAGGTGTCATCAATAGACAGGTCTTTGAATGTGATCGAATGAGTTTTCCCTTCGTCTTGCATTGAGACCGACCTGGTG... | TCATTAACTTATAGTAATGAAGGTAAAGTGTTTTAGAAATAAGCCTGATTACATATGTGATAGCTTCTTAAGGAGTTGGGCTGCTTTCATGCAATATAACACTTAGAAGACTATTTTATAGAATAGATACTCCACAAATTTCTGTTGAATTTAATGCAGTAAAATTAAAATTTAAAAAGCACTTACCAAGCACAGTGAGTTTAGCTTCTGAACTCATCCCCATAGCTTCTACTCTAATTTGGGAGGTGTCATCAATAGACAGGTCTTTGAATGTGATCGAATGAGTTTTCCCTTCGTCTTGCATTGAGACCGACCTGGTG... | pathogenic | 50,410 |
Is the variant located on chromosome 2 at position 178634462, gene TTN (titin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_familial_dilated_cardiomyopathy'] | CTATCAAGAAAAAAAAGAAAGAACTTATTAATTGAAGCACTTTAAAGAAGAAATATAAAACTAAAGGCAAAAAAAATGATTTTGGGGTGGACTATTTGATAAAACTATTTACCTTCAATGATCAGTTTGCCACTTGTGTGCTTATCTTCAGCTTCAAACATGTATTTTGCTTCATCTTCAAAAGCAGCTGACTTGATCACCATTGAATGCTTAGTGCCATCCTTTATAAGCTCAAATCTGTCATCACCTGTGATTTCCTGGGTTCCTTTTAGCCAACGGAATGTTTTGGGCTCCCTGGATACTTCACACTCAAACTTAGC... | CTATCAAGAAAAAAAAGAAAGAACTTATTAATTGAAGCACTTTAAAGAAGAAATATAAAACTAAAGGCAAAAAAAATGATTTTGGGGTGGACTATTTGATAAAACTATTTACCTTCAATGATCAGTTTGCCACTTGTGTGCTTATCTTCAGCTTCAAACATGTATTTTGCTTCATCTTCAAAAGCAGCTGACTTGATCACCATTGAATGCTTAGTGCCATCCTTTATAAGCTCAAATCTGTCATCACCTGTGATTTCCTGGGTTCCTTTTAGCCAACGGAATGTTTTGGGCTCCCTGGATACTTCACACTCAAACTTAGC... | pathogenic | 50,417 |
Determine whether the variant at chromosome 2, position 178636087, in gene TTN (titin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy', 'TTN-related_disorder'] | TTACTGTTTGATCTTCAAGAGGTGACATGAATTTCAGTCTTATACCTGAAATGCAAGCATAGATAATGCCTCAGAAACACAATTCACCTTCAGAAAGATTCCATTCTAATCTGCCTGAGTAAAAGGGACCCATTTCACATGGCACTTATTTATTCATCTTTCCAAATAGAGCTCCACTAAAAACAAATTAAGGGGGGTTGTTTTGGTAACACTGTGAAAGTTAATTAGTGATGCATTATCACAGCTTTTAGAACTTGGCGTCCTATCTTTAAAGTCATATATTTGCATGCCTTTATGGGATGTCACAGATCTCATTAGCT... | TTACTGTTTGATCTTCAAGAGGTGACATGAATTTCAGTCTTATACCTGAAATGCAAGCATAGATAATGCCTCAGAAACACAATTCACCTTCAGAAAGATTCCATTCTAATCTGCCTGAGTAAAAGGGACCCATTTCACATGGCACTTATTTATTCATCTTTCCAAATAGAGCTCCACTAAAAACAAATTAAGGGGGGTTGTTTTGGTAACACTGTGAAAGTTAATTAGTGATGCATTATCACAGCTTTTAGAACTTGGCGTCCTATCTTTAAAGTCATATATTTGCATGCCTTTATGGGATGTCACAGATCTCATTAGCT... | pathogenic | 50,455 |
The mutation impacting TTN (titin) on chromosome 2 at position 178636138: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TGCAAGCATAGATAATGCCTCAGAAACACAATTCACCTTCAGAAAGATTCCATTCTAATCTGCCTGAGTAAAAGGGACCCATTTCACATGGCACTTATTTATTCATCTTTCCAAATAGAGCTCCACTAAAAACAAATTAAGGGGGGTTGTTTTGGTAACACTGTGAAAGTTAATTAGTGATGCATTATCACAGCTTTTAGAACTTGGCGTCCTATCTTTAAAGTCATATATTTGCATGCCTTTATGGGATGTCACAGATCTCATTAGCTCGCTTACCTGTGACAAACAACCGAGCTGAGGTCTTCTTGCCCTCCACCTCA... | TGCAAGCATAGATAATGCCTCAGAAACACAATTCACCTTCAGAAAGATTCCATTCTAATCTGCCTGAGTAAAAGGGACCCATTTCACATGGCACTTATTTATTCATCTTTCCAAATAGAGCTCCACTAAAAACAAATTAAGGGGGGTTGTTTTGGTAACACTGTGAAAGTTAATTAGTGATGCATTATCACAGCTTTTAGAACTTGGCGTCCTATCTTTAAAGTCATATATTTGCATGCCTTTATGGGATGTCACAGATCTCATTAGCTCGCTTACCTGTGACAAACAACCGAGCTGAGGTCTTCTTGCCCTCCACCTCA... | pathogenic | 50,456 |
Is the chromosome 2, position 178636203 variant in TTN (titin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | GAGTAAAAGGGACCCATTTCACATGGCACTTATTTATTCATCTTTCCAAATAGAGCTCCACTAAAAACAAATTAAGGGGGGTTGTTTTGGTAACACTGTGAAAGTTAATTAGTGATGCATTATCACAGCTTTTAGAACTTGGCGTCCTATCTTTAAAGTCATATATTTGCATGCCTTTATGGGATGTCACAGATCTCATTAGCTCGCTTACCTGTGACAAACAACCGAGCTGAGGTCTTCTTGCCCTCCACCTCAGCAGTATAGACCCCTTCATCATCAAATTGAGAATCATTAATAACAAGAATATGTTTCTTTCCATC... | GAGTAAAAGGGACCCATTTCACATGGCACTTATTTATTCATCTTTCCAAATAGAGCTCCACTAAAAACAAATTAAGGGGGGTTGTTTTGGTAACACTGTGAAAGTTAATTAGTGATGCATTATCACAGCTTTTAGAACTTGGCGTCCTATCTTTAAAGTCATATATTTGCATGCCTTTATGGGATGTCACAGATCTCATTAGCTCGCTTACCTGTGACAAACAACCGAGCTGAGGTCTTCTTGCCCTCCACCTCAGCAGTATAGACCCCTTCATCATCAAATTGAGAATCATTAATAACAAGAATATGTTTCTTTCCATC... | pathogenic | 50,459 |
Is the variant located on chromosome 2 at position 178636503, gene TTN (titin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AGAATATGTTTCTTTCCATCAGCGATGATATCAAATTTGTCAGATGACTTAATTATATCAGGTCCTTTGGACCATATAACATTTGCCTCTCGGGTGAGGACACATTCGAATCGAGCCTGTCGCCTTTCTGGAACAGTGACATCCTTCAGGGGCACAGCAAAGTCAAGTTCGATTTCTGAAAATCAGACATTAAGAATGAGGCTTTTCAGAATGCACAGGGAAGTGAAATAAAGTTGAGACCCCTCCCCAAATTCTAAAAGCCCCATACCTTTTACTGTCAAAATGGCAGTTGTAATTGCATTAAGGGCCTGGTAGAGGAC... | AGAATATGTTTCTTTCCATCAGCGATGATATCAAATTTGTCAGATGACTTAATTATATCAGGTCCTTTGGACCATATAACATTTGCCTCTCGGGTGAGGACACATTCGAATCGAGCCTGTCGCCTTTCTGGAACAGTGACATCCTTCAGGGGCACAGCAAAGTCAAGTTCGATTTCTGAAAATCAGACATTAAGAATGAGGCTTTTCAGAATGCACAGGGAAGTGAAATAAAGTTGAGACCCCTCCCCAAATTCTAAAAGCCCCATACCTTTTACTGTCAAAATGGCAGTTGTAATTGCATTAAGGGCCTGGTAGAGGAC... | pathogenic | 50,468 |
Clinical significance of chromosome 2, position 178640640, gene TTN (titin): benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTTGTGCTTTATCAGTGGAGATGATCATTTTTCCATAGGAACAAATTGTCAAGGCATTATATTGAATATCTTAGATTCTTCACATCTTAGAAAATTATCAATACATGCCTTCTCCCCACCCCACCACCACCGCCCCCGCTTTAAATTTACTTTGTTTTATTTTTGGTTTTGTTGTTTCTTTTTTAAAAAAATAATTTCAACTTTTATTTTAAACTCATGGGATGCATGTGCAGTTTTGTTATGTGGATATATTTCATGATGCTGAGGTCTGGGATATGAGTGATCTCATCACCCAGATAGTGAGCCAAAGGGCAAATAGT... | TTTGTGCTTTATCAGTGGAGATGATCATTTTTCCATAGGAACAAATTGTCAAGGCATTATATTGAATATCTTAGATTCTTCACATCTTAGAAAATTATCAATACATGCCTTCTCCCCACCCCACCACCACCGCCCCCGCTTTAAATTTACTTTGTTTTATTTTTGGTTTTGTTGTTTCTTTTTTAAAAAAATAATTTCAACTTTTATTTTAAACTCATGGGATGCATGTGCAGTTTTGTTATGTGGATATATTTCATGATGCTGAGGTCTGGGATATGAGTGATCTCATCACCCAGATAGTGAGCCAAAGGGCAAATAGT... | benign | 50,490 |
Variant chromosome 2, position 178640645, gene TTN (titin): benign or pathogenic? Disease(s)? | benign | GCTTTATCAGTGGAGATGATCATTTTTCCATAGGAACAAATTGTCAAGGCATTATATTGAATATCTTAGATTCTTCACATCTTAGAAAATTATCAATACATGCCTTCTCCCCACCCCACCACCACCGCCCCCGCTTTAAATTTACTTTGTTTTATTTTTGGTTTTGTTGTTTCTTTTTTAAAAAAATAATTTCAACTTTTATTTTAAACTCATGGGATGCATGTGCAGTTTTGTTATGTGGATATATTTCATGATGCTGAGGTCTGGGATATGAGTGATCTCATCACCCAGATAGTGAGCCAAAGGGCAAATAGTCAGGA... | GCTTTATCAGTGGAGATGATCATTTTTCCATAGGAACAAATTGTCAAGGCATTATATTGAATATCTTAGATTCTTCACATCTTAGAAAATTATCAATACATGCCTTCTCCCCACCCCACCACCACCGCCCCCGCTTTAAATTTACTTTGTTTTATTTTTGGTTTTGTTGTTTCTTTTTTAAAAAAATAATTTCAACTTTTATTTTAAACTCATGGGATGCATGTGCAGTTTTGTTATGTGGATATATTTCATGATGCTGAGGTCTGGGATATGAGTGATCTCATCACCCAGATAGTGAGCCAAAGGGCAAATAGTCAGGA... | benign | 50,491 |
Assess the variant on chromosome 2, position 178641247, impacting TTN (titin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AGCCATTTTTAAGTATTCAATTCAGTTGCATGAAATACATTCACAATATTGTACAACCATCAACACTATCCATTTCCAGAACTTTTACATTATCCCAATATACACACTTTTTTAAAAAAGAGAAATTGTTCCAATAGGGTATAAGGGAAATTTGAAGCTTCATGGGATTCTTATATGTATACCCTTACAGGGTCTCTGCCTGTCTCCTTAGTTTTTATCAGCCCCAAACATATTCATTACTTAATCTCCAAAGCATATGAAAGAAATGGTGCAACCCAGGAACGTACATTCCAGTTAAGGCACAATATTCACCCACTGGG... | AGCCATTTTTAAGTATTCAATTCAGTTGCATGAAATACATTCACAATATTGTACAACCATCAACACTATCCATTTCCAGAACTTTTACATTATCCCAATATACACACTTTTTTAAAAAAGAGAAATTGTTCCAATAGGGTATAAGGGAAATTTGAAGCTTCATGGGATTCTTATATGTATACCCTTACAGGGTCTCTGCCTGTCTCCTTAGTTTTTATCAGCCCCAAACATATTCATTACTTAATCTCCAAAGCATATGAAAGAAATGGTGCAACCCAGGAACGTACATTCCAGTTAAGGCACAATATTCACCCACTGGG... | pathogenic | 50,493 |
Assess the variant on chromosome 2, position 178641265, impacting TTN (titin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Primary_dilated_cardiomyopathy'] | AATTCAGTTGCATGAAATACATTCACAATATTGTACAACCATCAACACTATCCATTTCCAGAACTTTTACATTATCCCAATATACACACTTTTTTAAAAAAGAGAAATTGTTCCAATAGGGTATAAGGGAAATTTGAAGCTTCATGGGATTCTTATATGTATACCCTTACAGGGTCTCTGCCTGTCTCCTTAGTTTTTATCAGCCCCAAACATATTCATTACTTAATCTCCAAAGCATATGAAAGAAATGGTGCAACCCAGGAACGTACATTCCAGTTAAGGCACAATATTCACCCACTGGGCAAGAGACAAGGTGGATA... | AATTCAGTTGCATGAAATACATTCACAATATTGTACAACCATCAACACTATCCATTTCCAGAACTTTTACATTATCCCAATATACACACTTTTTTAAAAAAGAGAAATTGTTCCAATAGGGTATAAGGGAAATTTGAAGCTTCATGGGATTCTTATATGTATACCCTTACAGGGTCTCTGCCTGTCTCCTTAGTTTTTATCAGCCCCAAACATATTCATTACTTAATCTCCAAAGCATATGAAAGAAATGGTGCAACCCAGGAACGTACATTCCAGTTAAGGCACAATATTCACCCACTGGGCAAGAGACAAGGTGGATA... | pathogenic | 50,494 |
Is the variant located on chromosome 2 at position 178647040, gene TTN (titin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | ATGAGGGTTGTAGAGGGCAAGAATCACCAGCAGCAATGTCTTATGCTGGAAGACTGTGGTTTGAAGATACATAGGTCTGTATAGGGAAAGTGCATATCTAAGATTATATCTAGATAATTTTAGATTGGGGAATCATATGACGTCACAAGACAACTTTTTATTAAAATAAGAATAATATGTTTCTGCCAGTTTATTTCAGCTTTTAAAGAAACTGATATTTTTAAAATTAAGTAACATTGTGTCAATTCATAGAAAAATCAAAATATAAGAAGGGGGAAGGGAAGTTTAATAATAAATGCTGGATACCAAATGTCTTCATA... | ATGAGGGTTGTAGAGGGCAAGAATCACCAGCAGCAATGTCTTATGCTGGAAGACTGTGGTTTGAAGATACATAGGTCTGTATAGGGAAAGTGCATATCTAAGATTATATCTAGATAATTTTAGATTGGGGAATCATATGACGTCACAAGACAACTTTTTATTAAAATAAGAATAATATGTTTCTGCCAGTTTATTTCAGCTTTTAAAGAAACTGATATTTTTAAAATTAAGTAACATTGTGTCAATTCATAGAAAAATCAAAATATAAGAAGGGGGAAGGGAAGTTTAATAATAAATGCTGGATACCAAATGTCTTCATA... | benign | 50,508 |
The genetic variant at chromosome 2, position 178647040, affecting gene TTN (titin): benign or pathogenic? Disease name(s) if pathogenic? | benign | ATGAGGGTTGTAGAGGGCAAGAATCACCAGCAGCAATGTCTTATGCTGGAAGACTGTGGTTTGAAGATACATAGGTCTGTATAGGGAAAGTGCATATCTAAGATTATATCTAGATAATTTTAGATTGGGGAATCATATGACGTCACAAGACAACTTTTTATTAAAATAAGAATAATATGTTTCTGCCAGTTTATTTCAGCTTTTAAAGAAACTGATATTTTTAAAATTAAGTAACATTGTGTCAATTCATAGAAAAATCAAAATATAAGAAGGGGGAAGGGAAGTTTAATAATAAATGCTGGATACCAAATGTCTTCATA... | ATGAGGGTTGTAGAGGGCAAGAATCACCAGCAGCAATGTCTTATGCTGGAAGACTGTGGTTTGAAGATACATAGGTCTGTATAGGGAAAGTGCATATCTAAGATTATATCTAGATAATTTTAGATTGGGGAATCATATGACGTCACAAGACAACTTTTTATTAAAATAAGAATAATATGTTTCTGCCAGTTTATTTCAGCTTTTAAAGAAACTGATATTTTTAAAATTAAGTAACATTGTGTCAATTCATAGAAAAATCAAAATATAAGAAGGGGGAAGGGAAGTTTAATAATAAATGCTGGATACCAAATGTCTTCATA... | benign | 50,509 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 178649800, gene TTN (titin): what disease(s) if pathogenic? | benign | CTTATTTACATGTGAATGACTTTAAGATCTACATCTCTAGGCCTGATCTCTTTCTTAAGCTCCTGATACACACTCCCAACTTTTATGCTTTAAAGGTGAAAAGCACATCTACCATTTTCCTCTAACGTTAGTTCAGAGACCCAATGAACCATTCTTTTGGCCATCTAGCTTTAAACCTTACAATGATCTTGGGCTCCTCAATTTCCCTAATGGTTTTGATAATGGTCAGAGGCCACTAAGTCTCCATCTCTTTCAAACCCAGTCCCCCTTTCCATTTCTGCCGCCACGGATCTTGTCCAACTCTTAAAGACCTTAAATAA... | CTTATTTACATGTGAATGACTTTAAGATCTACATCTCTAGGCCTGATCTCTTTCTTAAGCTCCTGATACACACTCCCAACTTTTATGCTTTAAAGGTGAAAAGCACATCTACCATTTTCCTCTAACGTTAGTTCAGAGACCCAATGAACCATTCTTTTGGCCATCTAGCTTTAAACCTTACAATGATCTTGGGCTCCTCAATTTCCCTAATGGTTTTGATAATGGTCAGAGGCCACTAAGTCTCCATCTCTTTCAAACCCAGTCCCCCTTTCCATTTCTGCCGCCACGGATCTTGTCCAACTCTTAAAGACCTTAAATAA... | benign | 50,520 |
A genetic variant at chromosome 2, position 178650214, affecting gene TTN (titin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TTTGAAGCTTCCTATTGCCTACAGAAAAAAGTACAAGCCTTTTACTGGCATTTGAAGTACTCCAAAATATGACCCCATCTTTATATCTGGTATTATCTTTCAAGACATTCCACAGCCAATCCATACTCAAATTGAGTTTACTTGACATAAGTTTACTTGACAATCCTTGAACATTCTAGACCCTTCTATCTCTGTGCCTTTCAATATGCTCTTCCCTTTCCATGGGATATCATGTCCTCAATTTCTTTTTTTTAATTTTTTTGAGACAGAGGCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCATTATCTCAGCTCAC... | TTTGAAGCTTCCTATTGCCTACAGAAAAAAGTACAAGCCTTTTACTGGCATTTGAAGTACTCCAAAATATGACCCCATCTTTATATCTGGTATTATCTTTCAAGACATTCCACAGCCAATCCATACTCAAATTGAGTTTACTTGACATAAGTTTACTTGACAATCCTTGAACATTCTAGACCCTTCTATCTCTGTGCCTTTCAATATGCTCTTCCCTTTCCATGGGATATCATGTCCTCAATTTCTTTTTTTTAATTTTTTTGAGACAGAGGCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCATTATCTCAGCTCAC... | benign | 50,522 |
A genetic variant at chromosome 2, position 178651453, affecting gene TTN (titin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | ATTTATTGGAGCAGCATTAAAATTAATGAAAGCAAAATAAGGAAATTTTTGTCCTTAGTTATGCAACAACAATGAGGACAACTTATTGGATTCCACTTTAAGATATCAGAATACTTTCTTTTTTATGATGCCAACGATGAAGTGAATACCTTTAGCTGCTGGTGTTTCTGGCTTCTTAACAGTTGGGACCTTCTTCACTGGAACAACTTTCTTTGGCATCTCAGGTTCTTTAAAGATATCAGTAGCATTTAATAATACAAAGTTGTGAGATGTAAGATATACATACAAGTTTATTCAACACTGTAACATATAGGTAAGAG... | ATTTATTGGAGCAGCATTAAAATTAATGAAAGCAAAATAAGGAAATTTTTGTCCTTAGTTATGCAACAACAATGAGGACAACTTATTGGATTCCACTTTAAGATATCAGAATACTTTCTTTTTTATGATGCCAACGATGAAGTGAATACCTTTAGCTGCTGGTGTTTCTGGCTTCTTAACAGTTGGGACCTTCTTCACTGGAACAACTTTCTTTGGCATCTCAGGTTCTTTAAAGATATCAGTAGCATTTAATAATACAAAGTTGTGAGATGTAAGATATACATACAAGTTTATTCAACACTGTAACATATAGGTAAGAG... | pathogenic | 50,535 |
A genetic alteration at chromosome 2, position 178652189, in gene TTN (titin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | ATACAGTGGATTCTGCTTTGTACCTGCTGGAGGTGGAACCTCTGGTTCCTCCTCTTCTGCAACAGGAACTGGCTTTTCCTCTTCAGGAGCAATTTCCTCTTCAGGAGCAATTTCCTCAGGTTCTTCATATACTTTAAAGATATTAGTTAATTTTATTTCAATGTATGGAACAATATTCTAAGATGGACAAACACTAAACACGATAAATAGTAATCTTGATTTCTTCCTTTGTTTCAATTGATACCTTCTCTTATTTTTGTTTAGATAAAATCTATCTCATTTGCACTGACTTCTTTGTCTATTGATTCAAATGCTTGCAA... | ATACAGTGGATTCTGCTTTGTACCTGCTGGAGGTGGAACCTCTGGTTCCTCCTCTTCTGCAACAGGAACTGGCTTTTCCTCTTCAGGAGCAATTTCCTCTTCAGGAGCAATTTCCTCAGGTTCTTCATATACTTTAAAGATATTAGTTAATTTTATTTCAATGTATGGAACAATATTCTAAGATGGACAAACACTAAACACGATAAATAGTAATCTTGATTTCTTCCTTTGTTTCAATTGATACCTTCTCTTATTTTTGTTTAGATAAAATCTATCTCATTTGCACTGACTTCTTTGTCTATTGATTCAAATGCTTGCAA... | benign | 50,560 |
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