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 |
|---|---|---|---|---|---|
Classify the chromosome 2 variant at position 178580350 affecting gene TTN as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AGTATCTATACTTTTATTACCCAAGCATAGTGCCATTTTTTTTTTCCTCTTGGAATATGCATAGTTGTTGTCTTTTTTGGTGAACAATTTTAACTTACAAAAATAGATATTATAATTAAGAAATACTTTATTAACTATTACATTAGGATATTTTCAATAAAATTAAACATTAACCATATGTACTGAAATAAAAACACATTTCTGTATAAGCAGATAATGTTATCGATAAGCACATGTTCAACTGTTCTCAGGGAAATATTTGTGAGGAATCTTGATGTAAAAGCTGTAGGATAAGAACAAACAAAATACCTGTAATTGGA... | AGTATCTATACTTTTATTACCCAAGCATAGTGCCATTTTTTTTTTCCTCTTGGAATATGCATAGTTGTTGTCTTTTTTGGTGAACAATTTTAACTTACAAAAATAGATATTATAATTAAGAAATACTTTATTAACTATTACATTAGGATATTTTCAATAAAATTAAACATTAACCATATGTACTGAAATAAAAACACATTTCTGTATAAGCAGATAATGTTATCGATAAGCACATGTTCAACTGTTCTCAGGGAAATATTTGTGAGGAATCTTGATGTAAAAGCTGTAGGATAAGAACAAACAAAATACCTGTAATTGGA... | pathogenic | 49,137 |
Is the genetic variant on chromosome 2, position 178580410, gene TTN, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'TTN-related_disorder'] | ATAGTTGTTGTCTTTTTTGGTGAACAATTTTAACTTACAAAAATAGATATTATAATTAAGAAATACTTTATTAACTATTACATTAGGATATTTTCAATAAAATTAAACATTAACCATATGTACTGAAATAAAAACACATTTCTGTATAAGCAGATAATGTTATCGATAAGCACATGTTCAACTGTTCTCAGGGAAATATTTGTGAGGAATCTTGATGTAAAAGCTGTAGGATAAGAACAAACAAAATACCTGTAATTGGAGAACCACCAGTTTTCTTGGGGTCAGTCCAAGTTAGAGATACTGAATCGTGTCTGACATCC... | ATAGTTGTTGTCTTTTTTGGTGAACAATTTTAACTTACAAAAATAGATATTATAATTAAGAAATACTTTATTAACTATTACATTAGGATATTTTCAATAAAATTAAACATTAACCATATGTACTGAAATAAAAACACATTTCTGTATAAGCAGATAATGTTATCGATAAGCACATGTTCAACTGTTCTCAGGGAAATATTTGTGAGGAATCTTGATGTAAAAGCTGTAGGATAAGAACAAACAAAATACCTGTAATTGGAGAACCACCAGTTTTCTTGGGGTCAGTCCAAGTTAGAGATACTGAATCGTGTCTGACATCC... | pathogenic | 49,142 |
Is the variant located on chromosome 2 at position 178580561, gene TTN, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AGATAATGTTATCGATAAGCACATGTTCAACTGTTCTCAGGGAAATATTTGTGAGGAATCTTGATGTAAAAGCTGTAGGATAAGAACAAACAAAATACCTGTAATTGGAGAACCACCAGTTTTCTTGGGGTCAGTCCAAGTTAGAGATACTGAATCGTGTCTGACATCCACAATATTGGGAGGTGGGGGAGCATCAGGCACATCTAGAAAAAAGTAGATAATGCAAGATTTATAATAAGAAGCCTCCTCAAAACCGTGTTTTGCTTTACGTCTTCTGAATTTAAGACACTTACCAAATGGATGTCTCGCAACAATTGGCT... | AGATAATGTTATCGATAAGCACATGTTCAACTGTTCTCAGGGAAATATTTGTGAGGAATCTTGATGTAAAAGCTGTAGGATAAGAACAAACAAAATACCTGTAATTGGAGAACCACCAGTTTTCTTGGGGTCAGTCCAAGTTAGAGATACTGAATCGTGTCTGACATCCACAATATTGGGAGGTGGGGGAGCATCAGGCACATCTAGAAAAAAGTAGATAATGCAAGATTTATAATAAGAAGCCTCCTCAAAACCGTGTTTTGCTTTACGTCTTCTGAATTTAAGACACTTACCAAATGGATGTCTCGCAACAATTGGCT... | pathogenic | 49,149 |
Variant in gene TTN, located at chromosome 2 position 178582126: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TGTAGACCAGGATTTCCTCTCTGCATCACGTTTTTGTACCACATAGTTTATGATGGGGCTTCCGCCATCAATAATGGGAGGCTCCCAGGTAACATAAGCAGAGTCTTTGGATATTTCCTTAACAGTCACATTGACAGGTGGCCCAGGAGTATCTGGATAAATAGTAGGTAAATAAGAAATGAATGTGTAAAAAATACATAAGCTATTTTAAAATATATATGATTCTTTTTTGAAATAGACTTACCAAGCACTTTCACAACAATGGTATATTCCTTTTTACCACAGCTGTTCTCCAGGGTTAAGATATATTTTCCTGCATC... | TGTAGACCAGGATTTCCTCTCTGCATCACGTTTTTGTACCACATAGTTTATGATGGGGCTTCCGCCATCAATAATGGGAGGCTCCCAGGTAACATAAGCAGAGTCTTTGGATATTTCCTTAACAGTCACATTGACAGGTGGCCCAGGAGTATCTGGATAAATAGTAGGTAAATAAGAAATGAATGTGTAAAAAATACATAAGCTATTTTAAAATATATATGATTCTTTTTTGAAATAGACTTACCAAGCACTTTCACAACAATGGTATATTCCTTTTTACCACAGCTGTTCTCCAGGGTTAAGATATATTTTCCTGCATC... | pathogenic | 49,188 |
Considering the variant on chromosome 2, location 178582216, involving gene TTN, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AACATAAGCAGAGTCTTTGGATATTTCCTTAACAGTCACATTGACAGGTGGCCCAGGAGTATCTGGATAAATAGTAGGTAAATAAGAAATGAATGTGTAAAAAATACATAAGCTATTTTAAAATATATATGATTCTTTTTTGAAATAGACTTACCAAGCACTTTCACAACAATGGTATATTCCTTTTTACCACAGCTGTTCTCCAGGGTTAAGATATATTTTCCTGCATCATATTTGTTCACATTTTCACAGCGCAAGAAAGTGTCAAAGTCAGTTGACTTTATGTCCAGTCCAATCCTGTCTCTTAGATTGACATTTGG... | AACATAAGCAGAGTCTTTGGATATTTCCTTAACAGTCACATTGACAGGTGGCCCAGGAGTATCTGGATAAATAGTAGGTAAATAAGAAATGAATGTGTAAAAAATACATAAGCTATTTTAAAATATATATGATTCTTTTTTGAAATAGACTTACCAAGCACTTTCACAACAATGGTATATTCCTTTTTACCACAGCTGTTCTCCAGGGTTAAGATATATTTTCCTGCATCATATTTGTTCACATTTTCACAGCGCAAGAAAGTGTCAAAGTCAGTTGACTTTATGTCCAGTCCAATCCTGTCTCTTAGATTGACATTTGG... | benign | 49,193 |
Classify the chromosome 2 variant at position 178583096 affecting gene TTN as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Primary_dilated_cardiomyopathy'] | TAAAGGGGAAATTATCATGGAGGATAAGCAAATAGAAGAAATAAGAAGAAGGGAAATTAAGATGGAGAGCCCACCAGTCACATACTTAGGGAGATGGTGGATTGGAAAACAGAAACCCTAAGAATAGTAAATAGCTCACTACTTAGTTAAAAGGCCTCTTTATTCCTAAAATAAAATTCTTACATTCCAATAAAATTCTCTCATTTCATGTCTTTTGAAGACAGGAAATTCTTATATATATGAAAAGCTTTTCAAAACCACAAATCATGTGCATTTGATTTGCCTGTTCCACAATACCGTAAAGTACCCACCCAGCTCTC... | TAAAGGGGAAATTATCATGGAGGATAAGCAAATAGAAGAAATAAGAAGAAGGGAAATTAAGATGGAGAGCCCACCAGTCACATACTTAGGGAGATGGTGGATTGGAAAACAGAAACCCTAAGAATAGTAAATAGCTCACTACTTAGTTAAAAGGCCTCTTTATTCCTAAAATAAAATTCTTACATTCCAATAAAATTCTCTCATTTCATGTCTTTTGAAGACAGGAAATTCTTATATATATGAAAAGCTTTTCAAAACCACAAATCATGTGCATTTGATTTGCCTGTTCCACAATACCGTAAAGTACCCACCCAGCTCTC... | pathogenic | 49,216 |
Mutation found at chromosome 2 position 178583105, gene TTN: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G'] | AATTATCATGGAGGATAAGCAAATAGAAGAAATAAGAAGAAGGGAAATTAAGATGGAGAGCCCACCAGTCACATACTTAGGGAGATGGTGGATTGGAAAACAGAAACCCTAAGAATAGTAAATAGCTCACTACTTAGTTAAAAGGCCTCTTTATTCCTAAAATAAAATTCTTACATTCCAATAAAATTCTCTCATTTCATGTCTTTTGAAGACAGGAAATTCTTATATATATGAAAAGCTTTTCAAAACCACAAATCATGTGCATTTGATTTGCCTGTTCCACAATACCGTAAAGTACCCACCCAGCTCTCCTAAAAAGT... | AATTATCATGGAGGATAAGCAAATAGAAGAAATAAGAAGAAGGGAAATTAAGATGGAGAGCCCACCAGTCACATACTTAGGGAGATGGTGGATTGGAAAACAGAAACCCTAAGAATAGTAAATAGCTCACTACTTAGTTAAAAGGCCTCTTTATTCCTAAAATAAAATTCTTACATTCCAATAAAATTCTCTCATTTCATGTCTTTTGAAGACAGGAAATTCTTATATATATGAAAAGCTTTTCAAAACCACAAATCATGTGCATTTGATTTGCCTGTTCCACAATACCGTAAAGTACCCACCCAGCTCTCCTAAAAAGT... | pathogenic | 49,219 |
Classify the chromosome 2 variant at position 178583237 affecting gene TTN as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CTTAGTTAAAAGGCCTCTTTATTCCTAAAATAAAATTCTTACATTCCAATAAAATTCTCTCATTTCATGTCTTTTGAAGACAGGAAATTCTTATATATATGAAAAGCTTTTCAAAACCACAAATCATGTGCATTTGATTTGCCTGTTCCACAATACCGTAAAGTACCCACCCAGCTCTCCTAAAAAGTACTCTTGGAGTTACCAGCTCTACACCTTGTTAATAAATTAATCTACCTAAGGGAGTTCTAGTCTCCCTCTTAGAATATGATTAATAGGAAAAGCCTTATGTACTCCCCCTGGTAATACTTACTTAAGATGTC... | CTTAGTTAAAAGGCCTCTTTATTCCTAAAATAAAATTCTTACATTCCAATAAAATTCTCTCATTTCATGTCTTTTGAAGACAGGAAATTCTTATATATATGAAAAGCTTTTCAAAACCACAAATCATGTGCATTTGATTTGCCTGTTCCACAATACCGTAAAGTACCCACCCAGCTCTCCTAAAAAGTACTCTTGGAGTTACCAGCTCTACACCTTGTTAATAAATTAATCTACCTAAGGGAGTTCTAGTCTCCCTCTTAGAATATGATTAATAGGAAAAGCCTTATGTACTCCCCCTGGTAATACTTACTTAAGATGTC... | benign | 49,228 |
Variant at chromosome position 178583650, 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'] | CAGGCCAGTAACCTCAAAGCGGGTTTTCTGTAGATTCTGTGGTAAGTTGCACCTCACCCAGTTATCGGAGTCAGCCCGTTTTACTTCAACGAGATAACCAATGATAGGGCTGCCGCCGTCATAGGCTGGCTTGCCCCAAGATAGACTCACAGAGCTGCGAGTTGTATCATATACTTTAGGGAAAGCCGGTGGGCCAGGAGGATCTGAGAATAAATAATGATAGGAAATTTTCATGAAAACTTCCTTCCTGGGTGTTTAATGCTGCTTTTAACACAGGATATGGAACTCGTTCATGAACACTTACACTGAGGGTCCCGAGC... | CAGGCCAGTAACCTCAAAGCGGGTTTTCTGTAGATTCTGTGGTAAGTTGCACCTCACCCAGTTATCGGAGTCAGCCCGTTTTACTTCAACGAGATAACCAATGATAGGGCTGCCGCCGTCATAGGCTGGCTTGCCCCAAGATAGACTCACAGAGCTGCGAGTTGTATCATATACTTTAGGGAAAGCCGGTGGGCCAGGAGGATCTGAGAATAAATAATGATAGGAAATTTTCATGAAAACTTCCTTCCTGGGTGTTTAATGCTGCTTTTAACACAGGATATGGAACTCGTTCATGAACACTTACACTGAGGGTCCCGAGC... | pathogenic | 49,234 |
Evaluate this variant at chromosome 2, position 178583676, gene TTN: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Primary_dilated_cardiomyopathy', 'Tibial_muscular_dystrophy'] | TCTGTAGATTCTGTGGTAAGTTGCACCTCACCCAGTTATCGGAGTCAGCCCGTTTTACTTCAACGAGATAACCAATGATAGGGCTGCCGCCGTCATAGGCTGGCTTGCCCCAAGATAGACTCACAGAGCTGCGAGTTGTATCATATACTTTAGGGAAAGCCGGTGGGCCAGGAGGATCTGAGAATAAATAATGATAGGAAATTTTCATGAAAACTTCCTTCCTGGGTGTTTAATGCTGCTTTTAACACAGGATATGGAACTCGTTCATGAACACTTACACTGAGGGTCCCGAGCATAAGCGGCCTTGGATGCGTCACTGG... | TCTGTAGATTCTGTGGTAAGTTGCACCTCACCCAGTTATCGGAGTCAGCCCGTTTTACTTCAACGAGATAACCAATGATAGGGCTGCCGCCGTCATAGGCTGGCTTGCCCCAAGATAGACTCACAGAGCTGCGAGTTGTATCATATACTTTAGGGAAAGCCGGTGGGCCAGGAGGATCTGAGAATAAATAATGATAGGAAATTTTCATGAAAACTTCCTTCCTGGGTGTTTAATGCTGCTTTTAACACAGGATATGGAACTCGTTCATGAACACTTACACTGAGGGTCCCGAGCATAAGCGGCCTTGGATGCGTCACTGG... | pathogenic | 49,238 |
Does the genetic variant at chromosome 2, position 178584255, impacting gene TTN, appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GTCTGCAGAAATTGATTGAAAAGTTAATTTCCCAGGCTAAAAGATAATTTTAAAAAATAAAATGAAAAACCACCGGGAAATGTTCCTACCATATGGGTTTTTGGCAATTGCTGGTTCAGTGAAGACTGGATCGCCTACTCCATATTTATTTTCAGCACAAATACGGAACTGATACTCATGGCCCTCTATAAGTTTCTCCACGCTGCAGCTGGTGATAGGCACAGTTGCAGAGACTTGAGCCCAGTTGGGCCTGCTTGTTTCACGTTTGTCAACAATATAGTTGGTGATTTCTGAGCCTCCATCTTCAAGAGGCGGTTCCC... | GTCTGCAGAAATTGATTGAAAAGTTAATTTCCCAGGCTAAAAGATAATTTTAAAAAATAAAATGAAAAACCACCGGGAAATGTTCCTACCATATGGGTTTTTGGCAATTGCTGGTTCAGTGAAGACTGGATCGCCTACTCCATATTTATTTTCAGCACAAATACGGAACTGATACTCATGGCCCTCTATAAGTTTCTCCACGCTGCAGCTGGTGATAGGCACAGTTGCAGAGACTTGAGCCCAGTTGGGCCTGCTTGTTTCACGTTTGTCAACAATATAGTTGGTGATTTCTGAGCCTCCATCTTCAAGAGGCGGTTCCC... | benign | 49,250 |
Is the variant located on chromosome 2 at position 178584653, gene TTN, benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GGAAGAAGAGTGAATATGTGGAATGGGGAATGAGTATAGAGTAGAGGTCTGGAGACCTGGGCTGCAGTCTTTCTATTGTCAATTTCCTATATGACCTAGGAGGTTAGTTAATTTTTTAGAATCTTAGTTTCTTCACTTGTAAAATTAGGTAATTGAAATATGTGATTTCTAAAGCTCTTTTTAACTCTAAAACGTGGTTCTGTCATAAGAATAATTCTGTGCATAGGAAATACACATTAGAATATGAATGTCTTCTCCCACATTATTCTGTAAATCCTATTTACATCCCATTATCCAAAGTAAAATATGGGATTCCAATG... | GGAAGAAGAGTGAATATGTGGAATGGGGAATGAGTATAGAGTAGAGGTCTGGAGACCTGGGCTGCAGTCTTTCTATTGTCAATTTCCTATATGACCTAGGAGGTTAGTTAATTTTTTAGAATCTTAGTTTCTTCACTTGTAAAATTAGGTAATTGAAATATGTGATTTCTAAAGCTCTTTTTAACTCTAAAACGTGGTTCTGTCATAAGAATAATTCTGTGCATAGGAAATACACATTAGAATATGAATGTCTTCTCCCACATTATTCTGTAAATCCTATTTACATCCCATTATCCAAAGTAAAATATGGGATTCCAATG... | benign | 49,268 |
The mutation impacting TTN on chromosome 2 at position 178584952: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | GTAAAATATGGGATTCCAATGAAGTTTATTAGTTACCTAACACTTTAAGCTTAATGGTGGCTGATTTAGAACCACTTGAATTTTCAGCAGTAATGGTATAGTCTCCTGAGTCCTTCCGGTTCACGCTGAATAGCTCCAAGGTGCACAGATTCCGCTGCATGGCCATCTTTATGCCTTCTGCTGGTTTTAGCAGTGTGCCATCTTTTTTCCAAGAAACTGTTGGCATCGGTTTACCAAAAACAGTAGCATCCAAGCAGACATTAGTTCCAGCTTTCACAGTAAGCAAAGATTTCATAGCCACACTCAGGTCTATCCTGGGA... | GTAAAATATGGGATTCCAATGAAGTTTATTAGTTACCTAACACTTTAAGCTTAATGGTGGCTGATTTAGAACCACTTGAATTTTCAGCAGTAATGGTATAGTCTCCTGAGTCCTTCCGGTTCACGCTGAATAGCTCCAAGGTGCACAGATTCCGCTGCATGGCCATCTTTATGCCTTCTGCTGGTTTTAGCAGTGTGCCATCTTTTTTCCAAGAAACTGTTGGCATCGGTTTACCAAAAACAGTAGCATCCAAGCAGACATTAGTTCCAGCTTTCACAGTAAGCAAAGATTTCATAGCCACACTCAGGTCTATCCTGGGA... | pathogenic | 49,282 |
Considering the genetic mutation at chromosome 2, position 178584952, 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', 'likely other unspecified diseases'] | GTAAAATATGGGATTCCAATGAAGTTTATTAGTTACCTAACACTTTAAGCTTAATGGTGGCTGATTTAGAACCACTTGAATTTTCAGCAGTAATGGTATAGTCTCCTGAGTCCTTCCGGTTCACGCTGAATAGCTCCAAGGTGCACAGATTCCGCTGCATGGCCATCTTTATGCCTTCTGCTGGTTTTAGCAGTGTGCCATCTTTTTTCCAAGAAACTGTTGGCATCGGTTTACCAAAAACAGTAGCATCCAAGCAGACATTAGTTCCAGCTTTCACAGTAAGCAAAGATTTCATAGCCACACTCAGGTCTATCCTGGGA... | GTAAAATATGGGATTCCAATGAAGTTTATTAGTTACCTAACACTTTAAGCTTAATGGTGGCTGATTTAGAACCACTTGAATTTTCAGCAGTAATGGTATAGTCTCCTGAGTCCTTCCGGTTCACGCTGAATAGCTCCAAGGTGCACAGATTCCGCTGCATGGCCATCTTTATGCCTTCTGCTGGTTTTAGCAGTGTGCCATCTTTTTTCCAAGAAACTGTTGGCATCGGTTTACCAAAAACAGTAGCATCCAAGCAGACATTAGTTCCAGCTTTCACAGTAAGCAAAGATTTCATAGCCACACTCAGGTCTATCCTGGGA... | pathogenic | 49,283 |
Benign or pathogenic: chromosome 2, position 178584960, gene TTN variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TGGGATTCCAATGAAGTTTATTAGTTACCTAACACTTTAAGCTTAATGGTGGCTGATTTAGAACCACTTGAATTTTCAGCAGTAATGGTATAGTCTCCTGAGTCCTTCCGGTTCACGCTGAATAGCTCCAAGGTGCACAGATTCCGCTGCATGGCCATCTTTATGCCTTCTGCTGGTTTTAGCAGTGTGCCATCTTTTTTCCAAGAAACTGTTGGCATCGGTTTACCAAAAACAGTAGCATCCAAGCAGACATTAGTTCCAGCTTTCACAGTAAGCAAAGATTTCATAGCCACACTCAGGTCTATCCTGGGAGGGACTGG... | TGGGATTCCAATGAAGTTTATTAGTTACCTAACACTTTAAGCTTAATGGTGGCTGATTTAGAACCACTTGAATTTTCAGCAGTAATGGTATAGTCTCCTGAGTCCTTCCGGTTCACGCTGAATAGCTCCAAGGTGCACAGATTCCGCTGCATGGCCATCTTTATGCCTTCTGCTGGTTTTAGCAGTGTGCCATCTTTTTTCCAAGAAACTGTTGGCATCGGTTTACCAAAAACAGTAGCATCCAAGCAGACATTAGTTCCAGCTTTCACAGTAAGCAAAGATTTCATAGCCACACTCAGGTCTATCCTGGGAGGGACTGG... | pathogenic | 49,284 |
Gene TTN variant at chromosome 2, position 178585348—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'] | AAATTCATATGCTGCTTCTTTCAAGAATGGAATTTTAGTGTTATTTCATTTTGTTTATTTTTAATAGACAAATAATAACTGCACTATTGAATAACTATTGAAATTATATAGTTGCCACAGTTGTGTATCTTGCTTTTTAATTTAGCATGTTATTATGATTCTCCATAATCATAATGTTTGTGTCTATATACAAAACATCATTTTAATTTTCCTTTTTTCCTTAGGTGTATATTTAGTTTTTTATTAGGAAAAATGACCATCATGAATGCTGTTACATCTTTGCCTATAATACTCAGCAGAATCTTACCATTTTCTGCGAG... | AAATTCATATGCTGCTTCTTTCAAGAATGGAATTTTAGTGTTATTTCATTTTGTTTATTTTTAATAGACAAATAATAACTGCACTATTGAATAACTATTGAAATTATATAGTTGCCACAGTTGTGTATCTTGCTTTTTAATTTAGCATGTTATTATGATTCTCCATAATCATAATGTTTGTGTCTATATACAAAACATCATTTTAATTTTCCTTTTTTCCTTAGGTGTATATTTAGTTTTTTATTAGGAAAAATGACCATCATGAATGCTGTTACATCTTTGCCTATAATACTCAGCAGAATCTTACCATTTTCTGCGAG... | pathogenic | 49,297 |
A mutation at chromosome position 178586613 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'] | TTCACTAGGAACACCTGGAGATGAAGACAAGGAAGATGTCAGTTTCTACATTAAGTAACAAACTAGAAAGAAAACAACTTTTTTTCTCCTTCACAAAAACATACCAAATGGGAACTGCGCAACCATCTTTGGAGATGTGAGAGGCTCTGAAATGCCAAATCGGTTTTCAGCACGGACCCGGAAGATGTACTCCTGGCCTGGGATCAGCTTTCCAACCCTGCAGGAAGTTTTTGTGACTGAAGCTAGAGCCGTGACCCAGTCACCTCGGCTTACATCACACTTCTCCACTATATAATTGGTGATGTTACTGCCTCCGTCCT... | TTCACTAGGAACACCTGGAGATGAAGACAAGGAAGATGTCAGTTTCTACATTAAGTAACAAACTAGAAAGAAAACAACTTTTTTTCTCCTTCACAAAAACATACCAAATGGGAACTGCGCAACCATCTTTGGAGATGTGAGAGGCTCTGAAATGCCAAATCGGTTTTCAGCACGGACCCGGAAGATGTACTCCTGGCCTGGGATCAGCTTTCCAACCCTGCAGGAAGTTTTTGTGACTGAAGCTAGAGCCGTGACCCAGTCACCTCGGCTTACATCACACTTCTCCACTATATAATTGGTGATGTTACTGCCTCCGTCCT... | pathogenic | 49,302 |
A genetic alteration at chromosome 2, position 178586647, in gene TTN—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | GATGTCAGTTTCTACATTAAGTAACAAACTAGAAAGAAAACAACTTTTTTTCTCCTTCACAAAAACATACCAAATGGGAACTGCGCAACCATCTTTGGAGATGTGAGAGGCTCTGAAATGCCAAATCGGTTTTCAGCACGGACCCGGAAGATGTACTCCTGGCCTGGGATCAGCTTTCCAACCCTGCAGGAAGTTTTTGTGACTGAAGCTAGAGCCGTGACCCAGTCACCTCGGCTTACATCACACTTCTCCACTATATAATTGGTGATGTTACTGCCTCCGTCCTCCAGAGGGATGTGCCATGACAGGGAGCAAGCATC... | GATGTCAGTTTCTACATTAAGTAACAAACTAGAAAGAAAACAACTTTTTTTCTCCTTCACAAAAACATACCAAATGGGAACTGCGCAACCATCTTTGGAGATGTGAGAGGCTCTGAAATGCCAAATCGGTTTTCAGCACGGACCCGGAAGATGTACTCCTGGCCTGGGATCAGCTTTCCAACCCTGCAGGAAGTTTTTGTGACTGAAGCTAGAGCCGTGACCCAGTCACCTCGGCTTACATCACACTTCTCCACTATATAATTGGTGATGTTACTGCCTCCGTCCTCCAGAGGGATGTGCCATGACAGGGAGCAAGCATC... | pathogenic | 49,303 |
Determine if the mutation at chromosome 2, position 178586802 in gene TTN is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G'] | CTCCTGGCCTGGGATCAGCTTTCCAACCCTGCAGGAAGTTTTTGTGACTGAAGCTAGAGCCGTGACCCAGTCACCTCGGCTTACATCACACTTCTCCACTATATAATTGGTGATGTTACTGCCTCCGTCCTCCAGAGGGATGTGCCATGACAGGGAGCAAGCATCAGCGTCTATATCAGAAATGTCAAATGGAGGCTGAGGGGGGCCGGGGGCATCTACATGAACCAAGAGGAAAGAAATGTAAGAACAAGGATTTGATACGTAAAAATATTTCTGAGCTTCATATTTAGATGGCCATTTGTCTAATACTTAACTTACCC... | CTCCTGGCCTGGGATCAGCTTTCCAACCCTGCAGGAAGTTTTTGTGACTGAAGCTAGAGCCGTGACCCAGTCACCTCGGCTTACATCACACTTCTCCACTATATAATTGGTGATGTTACTGCCTCCGTCCTCCAGAGGGATGTGCCATGACAGGGAGCAAGCATCAGCGTCTATATCAGAAATGTCAAATGGAGGCTGAGGGGGGCCGGGGGCATCTACATGAACCAAGAGGAAAGAAATGTAAGAACAAGGATTTGATACGTAAAAATATTTCTGAGCTTCATATTTAGATGGCCATTTGTCTAATACTTAACTTACCC... | pathogenic | 49,315 |
Variant chromosome 2, position 178587506, gene TTN: benign or pathogenic? Disease(s)? | benign | ATATACTTTAAGTTCTGGGATACATATGCAGAATGTGCAGGCTTGTTACATAGGTATACATGTGCCATGGTGATTTGCTGCACCCATCAACACATCGTCTACATTAGGTATTCTCCTAATGCTATCCTTCCCCTAGCCTCCCAACCCCTGACAGGCCCCAGTGTGTGATGCTCCCCTCCCTGTGTCCATGTGTTTTCATTGTTCAGCTCCCACTTATGAGTGAGAACATGTGGTGTTTGGTTTTCTGTTCTTGTGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCCTTTT... | ATATACTTTAAGTTCTGGGATACATATGCAGAATGTGCAGGCTTGTTACATAGGTATACATGTGCCATGGTGATTTGCTGCACCCATCAACACATCGTCTACATTAGGTATTCTCCTAATGCTATCCTTCCCCTAGCCTCCCAACCCCTGACAGGCCCCAGTGTGTGATGCTCCCCTCCCTGTGTCCATGTGTTTTCATTGTTCAGCTCCCACTTATGAGTGAGAACATGTGGTGTTTGGTTTTCTGTTCTTGTGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCCTTTT... | benign | 49,336 |
Considering the genetic mutation at chromosome 2, position 178587587, 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'] | ACCCATCAACACATCGTCTACATTAGGTATTCTCCTAATGCTATCCTTCCCCTAGCCTCCCAACCCCTGACAGGCCCCAGTGTGTGATGCTCCCCTCCCTGTGTCCATGTGTTTTCATTGTTCAGCTCCCACTTATGAGTGAGAACATGTGGTGTTTGGTTTTCTGTTCTTGTGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCCTTTTTTATGGCTGCGTAGTATCCTGTGGTGTAAATGTGGTGCCACATTTTCTTTATCCAGTCTGTCATTGATGGGCATTTGGGTT... | ACCCATCAACACATCGTCTACATTAGGTATTCTCCTAATGCTATCCTTCCCCTAGCCTCCCAACCCCTGACAGGCCCCAGTGTGTGATGCTCCCCTCCCTGTGTCCATGTGTTTTCATTGTTCAGCTCCCACTTATGAGTGAGAACATGTGGTGTTTGGTTTTCTGTTCTTGTGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCCTTTTTTATGGCTGCGTAGTATCCTGTGGTGTAAATGTGGTGCCACATTTTCTTTATCCAGTCTGTCATTGATGGGCATTTGGGTT... | pathogenic | 49,338 |
Located at chromosome 2 position 178587693, the variant affecting gene TTN—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype'] | ATGTGTTTTCATTGTTCAGCTCCCACTTATGAGTGAGAACATGTGGTGTTTGGTTTTCTGTTCTTGTGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCCTTTTTTATGGCTGCGTAGTATCCTGTGGTGTAAATGTGGTGCCACATTTTCTTTATCCAGTCTGTCATTGATGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAACAGTGCCACAATAAACATACATGTGCATGTGTCTTTATAGTAGAATGATTTATAATCCTTTGGGTATATACCCAGTAATGA... | ATGTGTTTTCATTGTTCAGCTCCCACTTATGAGTGAGAACATGTGGTGTTTGGTTTTCTGTTCTTGTGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCCTTTTTTATGGCTGCGTAGTATCCTGTGGTGTAAATGTGGTGCCACATTTTCTTTATCCAGTCTGTCATTGATGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAACAGTGCCACAATAAACATACATGTGCATGTGTCTTTATAGTAGAATGATTTATAATCCTTTGGGTATATACCCAGTAATGA... | pathogenic | 49,342 |
Is the genetic variant on chromosome 2, position 178587781, gene TTN, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCCTTTTTTATGGCTGCGTAGTATCCTGTGGTGTAAATGTGGTGCCACATTTTCTTTATCCAGTCTGTCATTGATGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAACAGTGCCACAATAAACATACATGTGCATGTGTCTTTATAGTAGAATGATTTATAATCCTTTGGGTATATACCCAGTAATGAGATTGCTGGGTCAAATGGTATTTCTGGTTCTAGATCCTTGAGGAATCGCCACACTGTCTTCCATAATGGTTGAACTAATTTACACTCC... | CCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCCTTTTTTATGGCTGCGTAGTATCCTGTGGTGTAAATGTGGTGCCACATTTTCTTTATCCAGTCTGTCATTGATGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAACAGTGCCACAATAAACATACATGTGCATGTGTCTTTATAGTAGAATGATTTATAATCCTTTGGGTATATACCCAGTAATGAGATTGCTGGGTCAAATGGTATTTCTGGTTCTAGATCCTTGAGGAATCGCCACACTGTCTTCCATAATGGTTGAACTAATTTACACTCC... | pathogenic | 49,347 |
Clinical significance of chromosome 2, position 178587902, 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'] | GGGTTGGTTCCAAGTCTTTGCTATTGTGAACAGTGCCACAATAAACATACATGTGCATGTGTCTTTATAGTAGAATGATTTATAATCCTTTGGGTATATACCCAGTAATGAGATTGCTGGGTCAAATGGTATTTCTGGTTCTAGATCCTTGAGGAATCGCCACACTGTCTTCCATAATGGTTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCTTTCCTATTTCTCCACATCCTCTCTAGCACCTGTTGTTTCCTGACTTTTTAGTGATCACCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTT... | GGGTTGGTTCCAAGTCTTTGCTATTGTGAACAGTGCCACAATAAACATACATGTGCATGTGTCTTTATAGTAGAATGATTTATAATCCTTTGGGTATATACCCAGTAATGAGATTGCTGGGTCAAATGGTATTTCTGGTTCTAGATCCTTGAGGAATCGCCACACTGTCTTCCATAATGGTTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCTTTCCTATTTCTCCACATCCTCTCTAGCACCTGTTGTTTCCTGACTTTTTAGTGATCACCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTT... | pathogenic | 49,349 |
Chromosome 2, position 178588172, gene TTN: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | GATCACCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTAGTGACCAGTGGTGATGAGCTTTTCTTCATATGTTTGTTGTACAGCCAATATTTTTAAAAACACAGAATAGGGTAGAAAACATAAGAATGCACATGATAATAAATGGGTATTGTTTCAGGAAATGTTTTTTAGTTATATATGTGTTTGTATAAGTTTATTTACTGTGTGTTTTTGGCCCACTCATGTGTTTGAAAGCCACTGTTCTCTACTGTTTTTCAAGAATTTCTAGAGCTAGATTCCTCAGGGAGAAATGTCTACA... | GATCACCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTAGTGACCAGTGGTGATGAGCTTTTCTTCATATGTTTGTTGTACAGCCAATATTTTTAAAAACACAGAATAGGGTAGAAAACATAAGAATGCACATGATAATAAATGGGTATTGTTTCAGGAAATGTTTTTTAGTTATATATGTGTTTGTATAAGTTTATTTACTGTGTGTTTTTGGCCCACTCATGTGTTTGAAAGCCACTGTTCTCTACTGTTTTTCAAGAATTTCTAGAGCTAGATTCCTCAGGGAGAAATGTCTACA... | pathogenic | 49,361 |
Clinically, how would you classify the variant at chromosome 2, position 178588674, gene TTN: benign or pathogenic? If pathogenic, specify the associated illness(es). | 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'] | GCTCAGATCTTTTACCACTGAGTACTCTGTCCAGCGATCTGCAGGCTGCTCTTCTTCTCTGTAACTAGTGATGTAGCCATCGATTTTAGCACCTCCATCACGTAGGGGAGGTAACCAGGCTAAGGTGGCACTGTTCTTGGTCATTTCAGTCACTTCTAATTTCCTTGGGGGATCCGGCTCACCTAGAAGAAAAACATAATTTAGAAGATTACCTAGGTAACCTAATCAAATCCCCTTTGTTAATGTACATAAGAGTTTTAGTATGGATTTGCTCCAATGTACATAGAACCTGTAGTTCAGTACATTAAAAGCAAAACATA... | GCTCAGATCTTTTACCACTGAGTACTCTGTCCAGCGATCTGCAGGCTGCTCTTCTTCTCTGTAACTAGTGATGTAGCCATCGATTTTAGCACCTCCATCACGTAGGGGAGGTAACCAGGCTAAGGTGGCACTGTTCTTGGTCATTTCAGTCACTTCTAATTTCCTTGGGGGATCCGGCTCACCTAGAAGAAAAACATAATTTAGAAGATTACCTAGGTAACCTAATCAAATCCCCTTTGTTAATGTACATAAGAGTTTTAGTATGGATTTGCTCCAATGTACATAGAACCTGTAGTTCAGTACATTAAAAGCAAAACATA... | pathogenic | 49,373 |
The chromosome 2, position 178588758 genetic variant in gene TTN: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TTTAGCACCTCCATCACGTAGGGGAGGTAACCAGGCTAAGGTGGCACTGTTCTTGGTCATTTCAGTCACTTCTAATTTCCTTGGGGGATCCGGCTCACCTAGAAGAAAAACATAATTTAGAAGATTACCTAGGTAACCTAATCAAATCCCCTTTGTTAATGTACATAAGAGTTTTAGTATGGATTTGCTCCAATGTACATAGAACCTGTAGTTCAGTACATTAAAAGCAAAACATATAAGATGAGACAGATCAAAAAAGTGTTTCATGAGTGAGATAGATATTTATTACACTATTTCGGTCTCTACAAATGAAATCTCTT... | TTTAGCACCTCCATCACGTAGGGGAGGTAACCAGGCTAAGGTGGCACTGTTCTTGGTCATTTCAGTCACTTCTAATTTCCTTGGGGGATCCGGCTCACCTAGAAGAAAAACATAATTTAGAAGATTACCTAGGTAACCTAATCAAATCCCCTTTGTTAATGTACATAAGAGTTTTAGTATGGATTTGCTCCAATGTACATAGAACCTGTAGTTCAGTACATTAAAAGCAAAACATATAAGATGAGACAGATCAAAAAAGTGTTTCATGAGTGAGATAGATATTTATTACACTATTTCGGTCTCTACAAATGAAATCTCTT... | pathogenic | 49,380 |
Mutation at chromosome 2, position 178588815, 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'] | CATTTCAGTCACTTCTAATTTCCTTGGGGGATCCGGCTCACCTAGAAGAAAAACATAATTTAGAAGATTACCTAGGTAACCTAATCAAATCCCCTTTGTTAATGTACATAAGAGTTTTAGTATGGATTTGCTCCAATGTACATAGAACCTGTAGTTCAGTACATTAAAAGCAAAACATATAAGATGAGACAGATCAAAAAAGTGTTTCATGAGTGAGATAGATATTTATTACACTATTTCGGTCTCTACAAATGAAATCTCTTTCAGAAGTGGATTAAAATGGTATTAGTATCTTGACCTTGCTAAAATAGGAGACTGGG... | CATTTCAGTCACTTCTAATTTCCTTGGGGGATCCGGCTCACCTAGAAGAAAAACATAATTTAGAAGATTACCTAGGTAACCTAATCAAATCCCCTTTGTTAATGTACATAAGAGTTTTAGTATGGATTTGCTCCAATGTACATAGAACCTGTAGTTCAGTACATTAAAAGCAAAACATATAAGATGAGACAGATCAAAAAAGTGTTTCATGAGTGAGATAGATATTTATTACACTATTTCGGTCTCTACAAATGAAATCTCTTTCAGAAGTGGATTAAAATGGTATTAGTATCTTGACCTTGCTAAAATAGGAGACTGGG... | pathogenic | 49,384 |
Mutation at chromosome 2, position 178589127, within TTN: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | AGACTGGGGTTAAAAGGAGGAAGAAAGCATAATACTTACTTAGAGGATCTGATGCAAGCACTGGTTTTGGGACATCTGTTGGGACGCCAGGGCCATATTCGTTGACAGCAGTTACTCTGAAGTAATACTCATTCCCAGGGACAAGATTGGTTACATGGAAGCTTGTTTTCTTAACTTCTGGGGTAACGGTCGACCATGTCTTTCTGTCTGCCTCACGTTTCTCCACGATATAATGTGTCACTTGGCTCCCACCGTCGTTTTCAGGAGGGGCCCAGGACACATGGCATGATGTTTTAGTGACATCTGAAACTTTTAAATCA... | AGACTGGGGTTAAAAGGAGGAAGAAAGCATAATACTTACTTAGAGGATCTGATGCAAGCACTGGTTTTGGGACATCTGTTGGGACGCCAGGGCCATATTCGTTGACAGCAGTTACTCTGAAGTAATACTCATTCCCAGGGACAAGATTGGTTACATGGAAGCTTGTTTTCTTAACTTCTGGGGTAACGGTCGACCATGTCTTTCTGTCTGCCTCACGTTTCTCCACGATATAATGTGTCACTTGGCTCCCACCGTCGTTTTCAGGAGGGGCCCAGGACACATGGCATGATGTTTTAGTGACATCTGAAACTTTTAAATCA... | pathogenic | 49,392 |
Chromosome 2, position 178589384, 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', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Tibial_muscular_dystrophy'] | TTTTCAGGAGGGGCCCAGGACACATGGCATGATGTTTTAGTGACATCTGAAACTTTTAAATCAGACACAGGCCCAGGAGTGTCTGTAAAGAATCATAAAATCAGATATACATGTCTCCTCAGCATCCCTATTAACAAATTCATTTTTGAAGTGGGAGGGAGAAGCATTTTAGTAACCCACCTAATACTCTGACATTTACGAATACAGCCTTTTCTCCTGCTGGGTTCACAAGTGTTAAGGAATATTTTCCTGAGTCATCACGGGTAGAATTGGGGATGACAAGGAAGGCCATAGTGTCAACCAGATCAACTTGTCCTTTT... | TTTTCAGGAGGGGCCCAGGACACATGGCATGATGTTTTAGTGACATCTGAAACTTTTAAATCAGACACAGGCCCAGGAGTGTCTGTAAAGAATCATAAAATCAGATATACATGTCTCCTCAGCATCCCTATTAACAAATTCATTTTTGAAGTGGGAGGGAGAAGCATTTTAGTAACCCACCTAATACTCTGACATTTACGAATACAGCCTTTTCTCCTGCTGGGTTCACAAGTGTTAAGGAATATTTTCCTGAGTCATCACGGGTAGAATTGGGGATGACAAGGAAGGCCATAGTGTCAACCAGATCAACTTGTCCTTTT... | pathogenic | 49,398 |
The mutation in gene TTN at chromosome 2, position 178589473—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | GAATCATAAAATCAGATATACATGTCTCCTCAGCATCCCTATTAACAAATTCATTTTTGAAGTGGGAGGGAGAAGCATTTTAGTAACCCACCTAATACTCTGACATTTACGAATACAGCCTTTTCTCCTGCTGGGTTCACAAGTGTTAAGGAATATTTTCCTGAGTCATCACGGGTAGAATTGGGGATGACAAGGAAGGCCATAGTGTCAACCAGATCAACTTGTCCTTTTCTGACCACATTATCAATGCCAACTTTTCGCCAAGTGACTTTAGGGGCTGGTCGTCCTCTCACTATAGCAAAGAGACGAATAGGGCATCC... | GAATCATAAAATCAGATATACATGTCTCCTCAGCATCCCTATTAACAAATTCATTTTTGAAGTGGGAGGGAGAAGCATTTTAGTAACCCACCTAATACTCTGACATTTACGAATACAGCCTTTTCTCCTGCTGGGTTCACAAGTGTTAAGGAATATTTTCCTGAGTCATCACGGGTAGAATTGGGGATGACAAGGAAGGCCATAGTGTCAACCAGATCAACTTGTCCTTTTCTGACCACATTATCAATGCCAACTTTTCGCCAAGTGACTTTAGGGGCTGGTCGTCCTCTCACTATAGCAAAGAGACGAATAGGGCATCC... | pathogenic | 49,403 |
Variant at chromosome position 178589589, 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'] | AGCCTTTTCTCCTGCTGGGTTCACAAGTGTTAAGGAATATTTTCCTGAGTCATCACGGGTAGAATTGGGGATGACAAGGAAGGCCATAGTGTCAACCAGATCAACTTGTCCTTTTCTGACCACATTATCAATGCCAACTTTTCGCCAAGTGACTTTAGGGGCTGGTCGTCCTCTCACTATAGCAAAGAGACGAATAGGGCATCCTGCTCTCACTATGACCAGTTTCCTCATGCTGGCATCCAAATCAATCTCCGGAGGTTCTGCAAATGACATTAAGGTCATTAATTGATTTTTCAGAATGTGGGGAAATCATAAGAAAT... | AGCCTTTTCTCCTGCTGGGTTCACAAGTGTTAAGGAATATTTTCCTGAGTCATCACGGGTAGAATTGGGGATGACAAGGAAGGCCATAGTGTCAACCAGATCAACTTGTCCTTTTCTGACCACATTATCAATGCCAACTTTTCGCCAAGTGACTTTAGGGGCTGGTCGTCCTCTCACTATAGCAAAGAGACGAATAGGGCATCCTGCTCTCACTATGACCAGTTTCCTCATGCTGGCATCCAAATCAATCTCCGGAGGTTCTGCAAATGACATTAAGGTCATTAATTGATTTTTCAGAATGTGGGGAAATCATAAGAAAT... | pathogenic | 49,408 |
Chromosome 2, position 178589595, gene TTN: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Muscular_dystrophy'] | TTCTCCTGCTGGGTTCACAAGTGTTAAGGAATATTTTCCTGAGTCATCACGGGTAGAATTGGGGATGACAAGGAAGGCCATAGTGTCAACCAGATCAACTTGTCCTTTTCTGACCACATTATCAATGCCAACTTTTCGCCAAGTGACTTTAGGGGCTGGTCGTCCTCTCACTATAGCAAAGAGACGAATAGGGCATCCTGCTCTCACTATGACCAGTTTCCTCATGCTGGCATCCAAATCAATCTCCGGAGGTTCTGCAAATGACATTAAGGTCATTAATTGATTTTTCAGAATGTGGGGAAATCATAAGAAATTAAGTG... | TTCTCCTGCTGGGTTCACAAGTGTTAAGGAATATTTTCCTGAGTCATCACGGGTAGAATTGGGGATGACAAGGAAGGCCATAGTGTCAACCAGATCAACTTGTCCTTTTCTGACCACATTATCAATGCCAACTTTTCGCCAAGTGACTTTAGGGGCTGGTCGTCCTCTCACTATAGCAAAGAGACGAATAGGGCATCCTGCTCTCACTATGACCAGTTTCCTCATGCTGGCATCCAAATCAATCTCCGGAGGTTCTGCAAATGACATTAAGGTCATTAATTGATTTTTCAGAATGTGGGGAAATCATAAGAAATTAAGTG... | pathogenic | 49,409 |
Determine whether the variant at chromosome 2, position 178589747, 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', 'TTN-related_disorder'] | GGGCTGGTCGTCCTCTCACTATAGCAAAGAGACGAATAGGGCATCCTGCTCTCACTATGACCAGTTTCCTCATGCTGGCATCCAAATCAATCTCCGGAGGTTCTGCAAATGACATTAAGGTCATTAATTGATTTTTCAGAATGTGGGGAAATCATAAGAAATTAAGTGTGAATGAATCACATGCTAAGGGAAGGACTTACCTAGTATTTCTTTAGGTTTGATAGCTTCCTTTAGCTCTGCAGGGCGCCCAATACCAACTTGGTTTTGGGCACACACCCTGAACTCATATTCCTGGTTTTCATCCAAGCTGGTAACAGTGA... | GGGCTGGTCGTCCTCTCACTATAGCAAAGAGACGAATAGGGCATCCTGCTCTCACTATGACCAGTTTCCTCATGCTGGCATCCAAATCAATCTCCGGAGGTTCTGCAAATGACATTAAGGTCATTAATTGATTTTTCAGAATGTGGGGAAATCATAAGAAATTAAGTGTGAATGAATCACATGCTAAGGGAAGGACTTACCTAGTATTTCTTTAGGTTTGATAGCTTCCTTTAGCTCTGCAGGGCGCCCAATACCAACTTGGTTTTGGGCACACACCCTGAACTCATATTCCTGGTTTTCATCCAAGCTGGTAACAGTGA... | pathogenic | 49,412 |
Evaluate the clinical significance of the mutation at chromosome 2, position 178589894 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'] | GAAATCATAAGAAATTAAGTGTGAATGAATCACATGCTAAGGGAAGGACTTACCTAGTATTTCTTTAGGTTTGATAGCTTCCTTTAGCTCTGCAGGGCGCCCAATACCAACTTGGTTTTGGGCACACACCCTGAACTCATATTCCTGGTTTTCATCCAAGCTGGTAACAGTGAATTCCTTGCGTACAAGCTGTGCTGCAGCATTACACCGTTTCCAGCCTTCATCAGGAGACGCATCTGCTATTTTTGGTCTCATTTCCACAACATATCCAATGATCGGTGCACCACCATCATAGACTGGTTTTCCCCACCCAAGAGTTA... | GAAATCATAAGAAATTAAGTGTGAATGAATCACATGCTAAGGGAAGGACTTACCTAGTATTTCTTTAGGTTTGATAGCTTCCTTTAGCTCTGCAGGGCGCCCAATACCAACTTGGTTTTGGGCACACACCCTGAACTCATATTCCTGGTTTTCATCCAAGCTGGTAACAGTGAATTCCTTGCGTACAAGCTGTGCTGCAGCATTACACCGTTTCCAGCCTTCATCAGGAGACGCATCTGCTATTTTTGGTCTCATTTCCACAACATATCCAATGATCGGTGCACCACCATCATAGACTGGTTTTCCCCACCCAAGAGTTA... | pathogenic | 49,417 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 178590110, gene TTN: what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_familial_dilated_cardiomyopathy'] | GCCTTCATCAGGAGACGCATCTGCTATTTTTGGTCTCATTTCCACAACATATCCAATGATCGGTGCACCACCATCATAGACTGGTTTTCCCCACCCAAGAGTTATGGAATGTTTGGTTGTATCAACCACTCTGAAATTGGTTGGTGGACCAGGTGGCTCTGAAAGTAAAATATACATATAGTTAACTACTACTAGTGATACTTCAATGTGTAATTTTATATAGCCTATTCTCAGTTAATCAAATATAGGTCATCCAATTTTTCAATTAGTGTCCTCTTTATTTTCCTTCATAAAAATGAGAATCTACTATTGTTTGTACC... | GCCTTCATCAGGAGACGCATCTGCTATTTTTGGTCTCATTTCCACAACATATCCAATGATCGGTGCACCACCATCATAGACTGGTTTTCCCCACCCAAGAGTTATGGAATGTTTGGTTGTATCAACCACTCTGAAATTGGTTGGTGGACCAGGTGGCTCTGAAAGTAAAATATACATATAGTTAACTACTACTAGTGATACTTCAATGTGTAATTTTATATAGCCTATTCTCAGTTAATCAAATATAGGTCATCCAATTTTTCAATTAGTGTCCTCTTTATTTTCCTTCATAAAAATGAGAATCTACTATTGTTTGTACC... | pathogenic | 49,428 |
Mutation found at chromosome 2 position 178590241, 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'] | TGAAATTGGTTGGTGGACCAGGTGGCTCTGAAAGTAAAATATACATATAGTTAACTACTACTAGTGATACTTCAATGTGTAATTTTATATAGCCTATTCTCAGTTAATCAAATATAGGTCATCCAATTTTTCAATTAGTGTCCTCTTTATTTTCCTTCATAAAAATGAGAATCTACTATTGTTTGTACCTTTTAGGTATTTTGGTAAAAGGTCTATTTGGAAAAATATTTGCTAAATACAGTTTGGATGTTACAGATTTAGATGTTACATTAACTTATTTATCGAATACTTCTGTGCTTGAGATTAAGAGTTGCTGTAAT... | TGAAATTGGTTGGTGGACCAGGTGGCTCTGAAAGTAAAATATACATATAGTTAACTACTACTAGTGATACTTCAATGTGTAATTTTATATAGCCTATTCTCAGTTAATCAAATATAGGTCATCCAATTTTTCAATTAGTGTCCTCTTTATTTTCCTTCATAAAAATGAGAATCTACTATTGTTTGTACCTTTTAGGTATTTTGGTAAAAGGTCTATTTGGAAAAATATTTGCTAAATACAGTTTGGATGTTACAGATTTAGATGTTACATTAACTTATTTATCGAATACTTCTGTGCTTGAGATTAAGAGTTGCTGTAAT... | pathogenic | 49,433 |
Evaluate if the mutation on chromosome 2 at position 178590329 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'] | ATAGCCTATTCTCAGTTAATCAAATATAGGTCATCCAATTTTTCAATTAGTGTCCTCTTTATTTTCCTTCATAAAAATGAGAATCTACTATTGTTTGTACCTTTTAGGTATTTTGGTAAAAGGTCTATTTGGAAAAATATTTGCTAAATACAGTTTGGATGTTACAGATTTAGATGTTACATTAACTTATTTATCGAATACTTCTGTGCTTGAGATTAAGAGTTGCTGTAATATCAGAAAAAACAAGGACATCCTACCTATGGGGTCTTTTGCCACCACCGGTCTTGAAGGCAAGCTTGGTTCTCCAATTCCAATTTCAT... | ATAGCCTATTCTCAGTTAATCAAATATAGGTCATCCAATTTTTCAATTAGTGTCCTCTTTATTTTCCTTCATAAAAATGAGAATCTACTATTGTTTGTACCTTTTAGGTATTTTGGTAAAAGGTCTATTTGGAAAAATATTTGCTAAATACAGTTTGGATGTTACAGATTTAGATGTTACATTAACTTATTTATCGAATACTTCTGTGCTTGAGATTAAGAGTTGCTGTAATATCAGAAAAAACAAGGACATCCTACCTATGGGGTCTTTTGCCACCACCGGTCTTGAAGGCAAGCTTGGTTCTCCAATTCCAATTTCAT... | pathogenic | 49,437 |
Is the variant located on chromosome 2 at position 178590730, gene TTN, 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'] | TGTTGACAGGGACCCATCGTGTTGAATGCTTTTCCTTTTTCTCCAAAAAGTATCCAGTTATAGACTTTCCACCATCATATTCAGGTGGATTCCAAACCACAGTCATCTCTTCTTTGCTTACTTTAGTGACTTCTGGGGGATCAGGGCGACCAGGTTTATCATACTTGGTTTTGGCTATGACTGGTTTACTTTCTGTTGGAGGCCCTGTGCCTATTTTATTTTCTGCACGGACTCTGAAAATATATTCATTTCCTTCTATGAGACGTGTTACTGTAGTACCAGGTGTCAAGACAGTAGCAGAATAGGTAGACCAAACCATT... | TGTTGACAGGGACCCATCGTGTTGAATGCTTTTCCTTTTTCTCCAAAAAGTATCCAGTTATAGACTTTCCACCATCATATTCAGGTGGATTCCAAACCACAGTCATCTCTTCTTTGCTTACTTTAGTGACTTCTGGGGGATCAGGGCGACCAGGTTTATCATACTTGGTTTTGGCTATGACTGGTTTACTTTCTGTTGGAGGCCCTGTGCCTATTTTATTTTCTGCACGGACTCTGAAAATATATTCATTTCCTTCTATGAGACGTGTTACTGTAGTACCAGGTGTCAAGACAGTAGCAGAATAGGTAGACCAAACCATT... | pathogenic | 49,451 |
Evaluate this variant at chromosome 2, position 178590822, gene TTN: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiovascular_phenotype'] | CAAACCACAGTCATCTCTTCTTTGCTTACTTTAGTGACTTCTGGGGGATCAGGGCGACCAGGTTTATCATACTTGGTTTTGGCTATGACTGGTTTACTTTCTGTTGGAGGCCCTGTGCCTATTTTATTTTCTGCACGGACTCTGAAAATATATTCATTTCCTTCTATGAGACGTGTTACTGTAGTACCAGGTGTCAAGACAGTAGCAGAATAGGTAGACCAAACCATTCGCTTTGTCTCACATTTTTCTAGAATATAATTTTGGATTTCACAGCCACCATCATCTTCTGGTGGATCCCAGCAAACAGTACACCTATCACT... | CAAACCACAGTCATCTCTTCTTTGCTTACTTTAGTGACTTCTGGGGGATCAGGGCGACCAGGTTTATCATACTTGGTTTTGGCTATGACTGGTTTACTTTCTGTTGGAGGCCCTGTGCCTATTTTATTTTCTGCACGGACTCTGAAAATATATTCATTTCCTTCTATGAGACGTGTTACTGTAGTACCAGGTGTCAAGACAGTAGCAGAATAGGTAGACCAAACCATTCGCTTTGTCTCACATTTTTCTAGAATATAATTTTGGATTTCACAGCCACCATCATCTTCTGGTGGATCCCAGCAAACAGTACACCTATCACT... | pathogenic | 49,455 |
Mutation at chromosome 2, position 178590871, within TTN: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | CAGGGCGACCAGGTTTATCATACTTGGTTTTGGCTATGACTGGTTTACTTTCTGTTGGAGGCCCTGTGCCTATTTTATTTTCTGCACGGACTCTGAAAATATATTCATTTCCTTCTATGAGACGTGTTACTGTAGTACCAGGTGTCAAGACAGTAGCAGAATAGGTAGACCAAACCATTCGCTTTGTCTCACATTTTTCTAGAATATAATTTTGGATTTCACAGCCACCATCATCTTCTGGTGGATCCCAGCAAACAGTACACCTATCACTGGACACATCAACAATTTTCAGATTTCTCACAGGACCAGGCTTATCTAAA... | CAGGGCGACCAGGTTTATCATACTTGGTTTTGGCTATGACTGGTTTACTTTCTGTTGGAGGCCCTGTGCCTATTTTATTTTCTGCACGGACTCTGAAAATATATTCATTTCCTTCTATGAGACGTGTTACTGTAGTACCAGGTGTCAAGACAGTAGCAGAATAGGTAGACCAAACCATTCGCTTTGTCTCACATTTTTCTAGAATATAATTTTGGATTTCACAGCCACCATCATCTTCTGGTGGATCCCAGCAAACAGTACACCTATCACTGGACACATCAACAATTTTCAGATTTCTCACAGGACCAGGCTTATCTAAA... | pathogenic | 49,457 |
Variant in TTN, chromosome 2, position 178591043—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', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Tibial_muscular_dystrophy'] | AACCATTCGCTTTGTCTCACATTTTTCTAGAATATAATTTTGGATTTCACAGCCACCATCATCTTCTGGTGGATCCCAGCAAACAGTACACCTATCACTGGACACATCAACAATTTTCAGATTTCTCACAGGACCAGGCTTATCTAAAACATTGACAGTGGCATAGGCCACAAAACTGCCAGCCGTGTTAGTTGCCGTAACTACATATTTACCCCCATCACTTCGCTTTGCTTTAGTAAGAGAAAATTTAGATGAATCAGCACGGGTATCAATCTTGACCCTTGGTGATCTTGTTAAGTCTGTAGCGTCTTTGTCCTTGG... | AACCATTCGCTTTGTCTCACATTTTTCTAGAATATAATTTTGGATTTCACAGCCACCATCATCTTCTGGTGGATCCCAGCAAACAGTACACCTATCACTGGACACATCAACAATTTTCAGATTTCTCACAGGACCAGGCTTATCTAAAACATTGACAGTGGCATAGGCCACAAAACTGCCAGCCGTGTTAGTTGCCGTAACTACATATTTACCCCCATCACTTCGCTTTGCTTTAGTAAGAGAAAATTTAGATGAATCAGCACGGGTATCAATCTTGACCCTTGGTGATCTTGTTAAGTCTGTAGCGTCTTTGTCCTTGG... | pathogenic | 49,462 |
Mutation found at chromosome 2 position 178591268, 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', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Tibial_muscular_dystrophy'] | CTTTGCTTTAGTAAGAGAAAATTTAGATGAATCAGCACGGGTATCAATCTTGACCCTTGGTGATCTTGTTAAGTCTGTAGCGTCTTTGTCCTTGGTCCATGCAACTTCTGGGAATGGTTTGCCTCTAACCCCTGCCTCAAGCCTAATGGTGTCCCCTGCTTTGACAGTTAGGACCCCACTTAATTTCAGATCAAGTACTGGTTTTTGTAAGTCTTCTTTCACAACAACTTCCTCTGTCTTCACCCAGTCACTTTCCCCACCTTCATTCTTTGTTTGCACTCTGAACTCATAAATCTGGTTTTCAACACATCTGTCAACCA... | CTTTGCTTTAGTAAGAGAAAATTTAGATGAATCAGCACGGGTATCAATCTTGACCCTTGGTGATCTTGTTAAGTCTGTAGCGTCTTTGTCCTTGGTCCATGCAACTTCTGGGAATGGTTTGCCTCTAACCCCTGCCTCAAGCCTAATGGTGTCCCCTGCTTTGACAGTTAGGACCCCACTTAATTTCAGATCAAGTACTGGTTTTTGTAAGTCTTCTTTCACAACAACTTCCTCTGTCTTCACCCAGTCACTTTCCCCACCTTCATTCTTTGTTTGCACTCTGAACTCATAAATCTGGTTTTCAACACATCTGTCAACCA... | pathogenic | 49,473 |
Assess the variant on chromosome 2, position 178591314, impacting TTN: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | ATCTTGACCCTTGGTGATCTTGTTAAGTCTGTAGCGTCTTTGTCCTTGGTCCATGCAACTTCTGGGAATGGTTTGCCTCTAACCCCTGCCTCAAGCCTAATGGTGTCCCCTGCTTTGACAGTTAGGACCCCACTTAATTTCAGATCAAGTACTGGTTTTTGTAAGTCTTCTTTCACAACAACTTCCTCTGTCTTCACCCAGTCACTTTCCCCACCTTCATTCTTTGTTTGCACTCTGAACTCATAAATCTGGTTTTCAACACATCTGTCAACCATGTAGTGAGTTTCTTTAATGCTTCCTTTATGCACTCTTTCCCAGTC... | ATCTTGACCCTTGGTGATCTTGTTAAGTCTGTAGCGTCTTTGTCCTTGGTCCATGCAACTTCTGGGAATGGTTTGCCTCTAACCCCTGCCTCAAGCCTAATGGTGTCCCCTGCTTTGACAGTTAGGACCCCACTTAATTTCAGATCAAGTACTGGTTTTTGTAAGTCTTCTTTCACAACAACTTCCTCTGTCTTCACCCAGTCACTTTCCCCACCTTCATTCTTTGTTTGCACTCTGAACTCATAAATCTGGTTTTCAACACATCTGTCAACCATGTAGTGAGTTTCTTTAATGCTTCCTTTATGCACTCTTTCCCAGTC... | pathogenic | 49,474 |
Gene TTN variant at chromosome position 178591325 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiomyopathy', 'Primary_dilated_cardiomyopathy'] | TGGTGATCTTGTTAAGTCTGTAGCGTCTTTGTCCTTGGTCCATGCAACTTCTGGGAATGGTTTGCCTCTAACCCCTGCCTCAAGCCTAATGGTGTCCCCTGCTTTGACAGTTAGGACCCCACTTAATTTCAGATCAAGTACTGGTTTTTGTAAGTCTTCTTTCACAACAACTTCCTCTGTCTTCACCCAGTCACTTTCCCCACCTTCATTCTTTGTTTGCACTCTGAACTCATAAATCTGGTTTTCAACACATCTGTCAACCATGTAGTGAGTTTCTTTAATGCTTCCTTTATGCACTCTTTCCCAGTCATCGGAGCCCT... | TGGTGATCTTGTTAAGTCTGTAGCGTCTTTGTCCTTGGTCCATGCAACTTCTGGGAATGGTTTGCCTCTAACCCCTGCCTCAAGCCTAATGGTGTCCCCTGCTTTGACAGTTAGGACCCCACTTAATTTCAGATCAAGTACTGGTTTTTGTAAGTCTTCTTTCACAACAACTTCCTCTGTCTTCACCCAGTCACTTTCCCCACCTTCATTCTTTGTTTGCACTCTGAACTCATAAATCTGGTTTTCAACACATCTGTCAACCATGTAGTGAGTTTCTTTAATGCTTCCTTTATGCACTCTTTCCCAGTCATCGGAGCCCT... | pathogenic | 49,475 |
Is the genetic mutation found on chromosome 2 at position 178591439, 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'] | GACCCCACTTAATTTCAGATCAAGTACTGGTTTTTGTAAGTCTTCTTTCACAACAACTTCCTCTGTCTTCACCCAGTCACTTTCCCCACCTTCATTCTTTGTTTGCACTCTGAACTCATAAATCTGGTTTTCAACACATCTGTCAACCATGTAGTGAGTTTCTTTAATGCTTCCTTTATGCACTCTTTCCCAGTCATCGGAGCCCTTAAGCCTTCTCTCAACATGATATGACAGATTTGGACTGCCACCATCATAGTCAGGCCTCCGCCACTTTAGATAGACAAATGTCTTTCCTTTATCTGCAATGTGAAGGTTTTCAG... | GACCCCACTTAATTTCAGATCAAGTACTGGTTTTTGTAAGTCTTCTTTCACAACAACTTCCTCTGTCTTCACCCAGTCACTTTCCCCACCTTCATTCTTTGTTTGCACTCTGAACTCATAAATCTGGTTTTCAACACATCTGTCAACCATGTAGTGAGTTTCTTTAATGCTTCCTTTATGCACTCTTTCCCAGTCATCGGAGCCCTTAAGCCTTCTCTCAACATGATATGACAGATTTGGACTGCCACCATCATAGTCAGGCCTCCGCCACTTTAGATAGACAAATGTCTTTCCTTTATCTGCAATGTGAAGGTTTTCAG... | pathogenic | 49,485 |
A genetic alteration at chromosome 2, position 178591899, in gene TTN—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TTAGTGACATCTGATGCAACAATTGACCAGCCTTTCTGGTTTGGTTTGCGATATTCTACTATGAAGTTTGTTATTTCTGAGCCACCATTATCTAGTGGGTTTTCCCAAGAAATTGTACAGTTCTCTTTGGTTACATTGGTAACCTTCAAATTCTGGCAAGGCCCAGGTCTGTCAAGGACGTTAACGATGGCTGAACCTTGGGCATGTCCACTGCTGTTCTTAGCTGAGATGATATACTTGCCATGATCAGCTCTAACAGCTTCTTTAATTTGTAACTCAACACGAGGTAGATCCTGAATAAGGTCCACCCTCTTTTCTCG... | TTAGTGACATCTGATGCAACAATTGACCAGCCTTTCTGGTTTGGTTTGCGATATTCTACTATGAAGTTTGTTATTTCTGAGCCACCATTATCTAGTGGGTTTTCCCAAGAAATTGTACAGTTCTCTTTGGTTACATTGGTAACCTTCAAATTCTGGCAAGGCCCAGGTCTGTCAAGGACGTTAACGATGGCTGAACCTTGGGCATGTCCACTGCTGTTCTTAGCTGAGATGATATACTTGCCATGATCAGCTCTAACAGCTTCTTTAATTTGTAACTCAACACGAGGTAGATCCTGAATAAGGTCCACCCTCTTTTCTCG... | benign | 49,509 |
Is the genetic change at chromosome 2, position 178592140, 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'] | CATGATCAGCTCTAACAGCTTCTTTAATTTGTAACTCAACACGAGGTAGATCCTGAATAAGGTCCACCCTCTTTTCTCGGACCAATACTTTGCCTTCCTTAGTCCAAGTTATGTCTGGTTCAGGTCTGCCTTTGACTCGAGCTAGAATGCGGATAGTTTGGCCTACTCTCACGGTAATAACATCACGACAAGTAACATCAAGTTCTACTTCTGGAGGATGAAGGATATCTTTTGCAATCACAGATTCTGCTAGTTCTCTTGGCTCACCCTCTCCTACAATATTAGCTGCCTTTATACGGAATCTGTACTCATTTCCTTCA... | CATGATCAGCTCTAACAGCTTCTTTAATTTGTAACTCAACACGAGGTAGATCCTGAATAAGGTCCACCCTCTTTTCTCGGACCAATACTTTGCCTTCCTTAGTCCAAGTTATGTCTGGTTCAGGTCTGCCTTTGACTCGAGCTAGAATGCGGATAGTTTGGCCTACTCTCACGGTAATAACATCACGACAAGTAACATCAAGTTCTACTTCTGGAGGATGAAGGATATCTTTTGCAATCACAGATTCTGCTAGTTCTCTTGGCTCACCCTCTCCTACAATATTAGCTGCCTTTATACGGAATCTGTACTCATTTCCTTCA... | pathogenic | 49,519 |
Regarding the variant found on chromosome 2 at position 178592371 in gene TTN: is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTGCAATCACAGATTCTGCTAGTTCTCTTGGCTCACCCTCTCCTACAATATTAGCTGCCTTTATACGGAATCTGTACTCATTTCCTTCAATTAGTCCAGGTACCCTAAAGGCACATTGCCTAATGAGTTCATCTTTATTAATCCTGTTCCATTGTGCTGTGCCAGGTTTCTGACATTCCACTACATATCCTAGAATGGGGCTACCACCATCACTGAGAGGCTTTGTCCACACCAAATCAGCTGTTTCTCTGCTCTTGTCTTTCAGTTTAGGATTAATAGGTGGTCCAGGTGGTTTGATGGGCCGGCAAGCTTTTATTGGA... | TTGCAATCACAGATTCTGCTAGTTCTCTTGGCTCACCCTCTCCTACAATATTAGCTGCCTTTATACGGAATCTGTACTCATTTCCTTCAATTAGTCCAGGTACCCTAAAGGCACATTGCCTAATGAGTTCATCTTTATTAATCCTGTTCCATTGTGCTGTGCCAGGTTTCTGACATTCCACTACATATCCTAGAATGGGGCTACCACCATCACTGAGAGGCTTTGTCCACACCAAATCAGCTGTTTCTCTGCTCTTGTCTTTCAGTTTAGGATTAATAGGTGGTCCAGGTGGTTTGATGGGCCGGCAAGCTTTTATTGGA... | benign | 49,526 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 178592538, gene TTN. What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TTCTGACATTCCACTACATATCCTAGAATGGGGCTACCACCATCACTGAGAGGCTTTGTCCACACCAAATCAGCTGTTTCTCTGCTCTTGTCTTTCAGTTTAGGATTAATAGGTGGTCCAGGTGGTTTGATGGGCCGGCAAGCTTTTATTGGATCAGAACTTGGGGATGGTTTGCTTAGTCCTGCAAGATTTTCAGCAAAAACTCTAAACTCATATGTATTTCCTTCATAGAGTCCAGTCACTCTGAACTTCAGGTCAGCGATAGGTGTTTTGTTGACCCTCACCCATTTGCCAGTTACTTCTCGACGTTCCATATAGTA... | TTCTGACATTCCACTACATATCCTAGAATGGGGCTACCACCATCACTGAGAGGCTTTGTCCACACCAAATCAGCTGTTTCTCTGCTCTTGTCTTTCAGTTTAGGATTAATAGGTGGTCCAGGTGGTTTGATGGGCCGGCAAGCTTTTATTGGATCAGAACTTGGGGATGGTTTGCTTAGTCCTGCAAGATTTTCAGCAAAAACTCTAAACTCATATGTATTTCCTTCATAGAGTCCAGTCACTCTGAACTTCAGGTCAGCGATAGGTGTTTTGTTGACCCTCACCCATTTGCCAGTTACTTCTCGACGTTCCATATAGTA... | pathogenic | 49,531 |
Clinical classification of chromosome 2, position 178592553, gene TTN: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | ACATATCCTAGAATGGGGCTACCACCATCACTGAGAGGCTTTGTCCACACCAAATCAGCTGTTTCTCTGCTCTTGTCTTTCAGTTTAGGATTAATAGGTGGTCCAGGTGGTTTGATGGGCCGGCAAGCTTTTATTGGATCAGAACTTGGGGATGGTTTGCTTAGTCCTGCAAGATTTTCAGCAAAAACTCTAAACTCATATGTATTTCCTTCATAGAGTCCAGTCACTCTGAACTTCAGGTCAGCGATAGGTGTTTTGTTGACCCTCACCCATTTGCCAGTTACTTCTCGACGTTCCATATAGTAGCCAGTTATTGGACT... | ACATATCCTAGAATGGGGCTACCACCATCACTGAGAGGCTTTGTCCACACCAAATCAGCTGTTTCTCTGCTCTTGTCTTTCAGTTTAGGATTAATAGGTGGTCCAGGTGGTTTGATGGGCCGGCAAGCTTTTATTGGATCAGAACTTGGGGATGGTTTGCTTAGTCCTGCAAGATTTTCAGCAAAAACTCTAAACTCATATGTATTTCCTTCATAGAGTCCAGTCACTCTGAACTTCAGGTCAGCGATAGGTGTTTTGTTGACCCTCACCCATTTGCCAGTTACTTCTCGACGTTCCATATAGTAGCCAGTTATTGGACT... | pathogenic | 49,533 |
A genetic alteration at chromosome 2, position 178592593, in gene TTN—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | TTGTCCACACCAAATCAGCTGTTTCTCTGCTCTTGTCTTTCAGTTTAGGATTAATAGGTGGTCCAGGTGGTTTGATGGGCCGGCAAGCTTTTATTGGATCAGAACTTGGGGATGGTTTGCTTAGTCCTGCAAGATTTTCAGCAAAAACTCTAAACTCATATGTATTTCCTTCATAGAGTCCAGTCACTCTGAACTTCAGGTCAGCGATAGGTGTTTTGTTGACCCTCACCCATTTGCCAGTTACTTCTCGACGTTCCATATAGTAGCCAGTTATTGGACTGCCACCATCAGATTTTGGCAGGGTCCAAGACACTGTTGCT... | TTGTCCACACCAAATCAGCTGTTTCTCTGCTCTTGTCTTTCAGTTTAGGATTAATAGGTGGTCCAGGTGGTTTGATGGGCCGGCAAGCTTTTATTGGATCAGAACTTGGGGATGGTTTGCTTAGTCCTGCAAGATTTTCAGCAAAAACTCTAAACTCATATGTATTTCCTTCATAGAGTCCAGTCACTCTGAACTTCAGGTCAGCGATAGGTGTTTTGTTGACCCTCACCCATTTGCCAGTTACTTCTCGACGTTCCATATAGTAGCCAGTTATTGGACTGCCACCATCAGATTTTGGCAGGGTCCAAGACACTGTTGCT... | pathogenic | 49,535 |
Considering the variant on chromosome 2, location 178592602, involving gene TTN, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CCAAATCAGCTGTTTCTCTGCTCTTGTCTTTCAGTTTAGGATTAATAGGTGGTCCAGGTGGTTTGATGGGCCGGCAAGCTTTTATTGGATCAGAACTTGGGGATGGTTTGCTTAGTCCTGCAAGATTTTCAGCAAAAACTCTAAACTCATATGTATTTCCTTCATAGAGTCCAGTCACTCTGAACTTCAGGTCAGCGATAGGTGTTTTGTTGACCCTCACCCATTTGCCAGTTACTTCTCGACGTTCCATATAGTAGCCAGTTATTGGACTGCCACCATCAGATTTTGGCAGGGTCCAAGACACTGTTGCTGCATTTTCA... | CCAAATCAGCTGTTTCTCTGCTCTTGTCTTTCAGTTTAGGATTAATAGGTGGTCCAGGTGGTTTGATGGGCCGGCAAGCTTTTATTGGATCAGAACTTGGGGATGGTTTGCTTAGTCCTGCAAGATTTTCAGCAAAAACTCTAAACTCATATGTATTTCCTTCATAGAGTCCAGTCACTCTGAACTTCAGGTCAGCGATAGGTGTTTTGTTGACCCTCACCCATTTGCCAGTTACTTCTCGACGTTCCATATAGTAGCCAGTTATTGGACTGCCACCATCAGATTTTGGCAGGGTCCAAGACACTGTTGCTGCATTTTCA... | pathogenic | 49,536 |
Regarding the variant found on chromosome 2 at position 178592652 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'] | GGTCCAGGTGGTTTGATGGGCCGGCAAGCTTTTATTGGATCAGAACTTGGGGATGGTTTGCTTAGTCCTGCAAGATTTTCAGCAAAAACTCTAAACTCATATGTATTTCCTTCATAGAGTCCAGTCACTCTGAACTTCAGGTCAGCGATAGGTGTTTTGTTGACCCTCACCCATTTGCCAGTTACTTCTCGACGTTCCATATAGTAGCCAGTTATTGGACTGCCACCATCAGATTTTGGCAGGGTCCAAGACACTGTTGCTGCATTTTCAGTAATGTCAGTAACCACTGGTTTACCAGGAGGAGACGGAGGACTAAATTT... | GGTCCAGGTGGTTTGATGGGCCGGCAAGCTTTTATTGGATCAGAACTTGGGGATGGTTTGCTTAGTCCTGCAAGATTTTCAGCAAAAACTCTAAACTCATATGTATTTCCTTCATAGAGTCCAGTCACTCTGAACTTCAGGTCAGCGATAGGTGTTTTGTTGACCCTCACCCATTTGCCAGTTACTTCTCGACGTTCCATATAGTAGCCAGTTATTGGACTGCCACCATCAGATTTTGGCAGGGTCCAAGACACTGTTGCTGCATTTTCAGTAATGTCAGTAACCACTGGTTTACCAGGAGGAGACGGAGGACTAAATTT... | pathogenic | 49,539 |
Regarding the variant at chromosome 2 and position 178592913, affecting gene TTN: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy', 'TTN-related_disorder'] | GCATTTTCAGTAATGTCAGTAACCACTGGTTTACCAGGAGGAGACGGAGGACTAAATTTATGCTTAGCAACAGTAGGTGTGGAGTCAAGGGGAGGACCAACACCTATCTTATTCTCTGCTCTAACTCGGAAAACATATTCACAGCCCTTCTGCAGATGTGGGATTTTCAGCTTTGTCTTACTGCTTCCGGAAGAGACAACACCCCACGTGTCTTTCCTTGTATCTTGTTTCTCAACAATATAATTTATCACAGGGCTTCCTCCATCATCCTTAGGTGGCTGCCATGAGATAGTCATGTGTTCAGGAGTAACATCCAGAAT... | GCATTTTCAGTAATGTCAGTAACCACTGGTTTACCAGGAGGAGACGGAGGACTAAATTTATGCTTAGCAACAGTAGGTGTGGAGTCAAGGGGAGGACCAACACCTATCTTATTCTCTGCTCTAACTCGGAAAACATATTCACAGCCCTTCTGCAGATGTGGGATTTTCAGCTTTGTCTTACTGCTTCCGGAAGAGACAACACCCCACGTGTCTTTCCTTGTATCTTGTTTCTCAACAATATAATTTATCACAGGGCTTCCTCCATCATCCTTAGGTGGCTGCCATGAGATAGTCATGTGTTCAGGAGTAACATCCAGAAT... | pathogenic | 49,547 |
Variant in gene TTN, located at chromosome 2 position 178592916: 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', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Tibial_muscular_dystrophy'] | TTTTCAGTAATGTCAGTAACCACTGGTTTACCAGGAGGAGACGGAGGACTAAATTTATGCTTAGCAACAGTAGGTGTGGAGTCAAGGGGAGGACCAACACCTATCTTATTCTCTGCTCTAACTCGGAAAACATATTCACAGCCCTTCTGCAGATGTGGGATTTTCAGCTTTGTCTTACTGCTTCCGGAAGAGACAACACCCCACGTGTCTTTCCTTGTATCTTGTTTCTCAACAATATAATTTATCACAGGGCTTCCTCCATCATCCTTAGGTGGCTGCCATGAGATAGTCATGTGTTCAGGAGTAACATCCAGAATATT... | TTTTCAGTAATGTCAGTAACCACTGGTTTACCAGGAGGAGACGGAGGACTAAATTTATGCTTAGCAACAGTAGGTGTGGAGTCAAGGGGAGGACCAACACCTATCTTATTCTCTGCTCTAACTCGGAAAACATATTCACAGCCCTTCTGCAGATGTGGGATTTTCAGCTTTGTCTTACTGCTTCCGGAAGAGACAACACCCCACGTGTCTTTCCTTGTATCTTGTTTCTCAACAATATAATTTATCACAGGGCTTCCTCCATCATCCTTAGGTGGCTGCCATGAGATAGTCATGTGTTCAGGAGTAACATCCAGAATATT... | pathogenic | 49,548 |
Variant on chromosome 2, at position 178592991, affecting TTN: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | GTGGAGTCAAGGGGAGGACCAACACCTATCTTATTCTCTGCTCTAACTCGGAAAACATATTCACAGCCCTTCTGCAGATGTGGGATTTTCAGCTTTGTCTTACTGCTTCCGGAAGAGACAACACCCCACGTGTCTTTCCTTGTATCTTGTTTCTCAACAATATAATTTATCACAGGGCTTCCTCCATCATCCTTAGGTGGCTGCCATGAGATAGTCATGTGTTCAGGAGTAACATCCAGAATATTAATAGGACCTGTTGGTGGCCCAGGAACATCAAGAACAGTAAGATGTACGGCTACTGTTTTGCTACCGGCTGCATT... | GTGGAGTCAAGGGGAGGACCAACACCTATCTTATTCTCTGCTCTAACTCGGAAAACATATTCACAGCCCTTCTGCAGATGTGGGATTTTCAGCTTTGTCTTACTGCTTCCGGAAGAGACAACACCCCACGTGTCTTTCCTTGTATCTTGTTTCTCAACAATATAATTTATCACAGGGCTTCCTCCATCATCCTTAGGTGGCTGCCATGAGATAGTCATGTGTTCAGGAGTAACATCCAGAATATTAATAGGACCTGTTGGTGGCCCAGGAACATCAAGAACAGTAAGATGTACGGCTACTGTTTTGCTACCGGCTGCATT... | pathogenic | 49,555 |
Is the genetic change at chromosome 2, position 178593369, within gene TTN benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Primary_dilated_cardiomyopathy'] | ACTGATGAGAAGTTGTCTGTTTCAACTGTGTAGTGCTCATCGGTTTTAATCTCACTCCCATCGGTTGTCCACTTTGCAGTAGGAACAGGCACACCTCTTATAATAGCAGGGAATCTGACTGTGGTTCCAGCCTTTACCACAAGACCTTCAATTAATTTCACATCTAGCTCCACGGATGGAGGCACTGAAAAGTAAACATGAAAAAATTAGATTTTGATTTTCACCTATATGAATAATTTTAAAAAGAAATAAGGTAATACTGCTAGTCCAAAAATTACCTAGTTTTTCTTGACATTCTATCGGGATAGTTGTGTCAGGGA... | ACTGATGAGAAGTTGTCTGTTTCAACTGTGTAGTGCTCATCGGTTTTAATCTCACTCCCATCGGTTGTCCACTTTGCAGTAGGAACAGGCACACCTCTTATAATAGCAGGGAATCTGACTGTGGTTCCAGCCTTTACCACAAGACCTTCAATTAATTTCACATCTAGCTCCACGGATGGAGGCACTGAAAAGTAAACATGAAAAAATTAGATTTTGATTTTCACCTATATGAATAATTTTAAAAAGAAATAAGGTAATACTGCTAGTCCAAAAATTACCTAGTTTTTCTTGACATTCTATCGGGATAGTTGTGTCAGGGA... | pathogenic | 49,569 |
Is the genetic mutation found on chromosome 2 at position 178593679, 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'] | GTGTCAGGGAGACCAAGACCCACAATGTTTTCAGCTTTTACACGGAATCTATAGGTCTTTCCTTGTTGTAGTCCAGTAACCACACACTCTAAGTTTGTCACAGTCTTAAATTTAATCCAGTCCTGGGTGCCTTCTTCTTGATATTCTACCAAATATCCAGTGATTGGAGAACCACCATCACGATCCGGCTTATTCCAGACTAGGGAGACTTCAGTCTTGTCAACATCTACATGGTGCAGGTCCTTGGGTGGCCCTGGGGGATCTTTTCAAAGAAGAAGTTATGATGAAAAAGTAATATTCTTAAAGACAGTCAAACAATA... | GTGTCAGGGAGACCAAGACCCACAATGTTTTCAGCTTTTACACGGAATCTATAGGTCTTTCCTTGTTGTAGTCCAGTAACCACACACTCTAAGTTTGTCACAGTCTTAAATTTAATCCAGTCCTGGGTGCCTTCTTCTTGATATTCTACCAAATATCCAGTGATTGGAGAACCACCATCACGATCCGGCTTATTCCAGACTAGGGAGACTTCAGTCTTGTCAACATCTACATGGTGCAGGTCCTTGGGTGGCCCTGGGGGATCTTTTCAAAGAAGAAGTTATGATGAAAAAGTAATATTCTTAAAGACAGTCAAACAATA... | pathogenic | 49,578 |
A genetic alteration at chromosome 2, position 178593731, in gene TTN—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | AGGTCTTTCCTTGTTGTAGTCCAGTAACCACACACTCTAAGTTTGTCACAGTCTTAAATTTAATCCAGTCCTGGGTGCCTTCTTCTTGATATTCTACCAAATATCCAGTGATTGGAGAACCACCATCACGATCCGGCTTATTCCAGACTAGGGAGACTTCAGTCTTGTCAACATCTACATGGTGCAGGTCCTTGGGTGGCCCTGGGGGATCTTTTCAAAGAAGAAGTTATGATGAAAAAGTAATATTCTTAAAGACAGTCAAACAATAGTTTTGTATTCAGAGAAAGCAACTTACGGAGAGGATCCAAAGCCTTGATTGG... | AGGTCTTTCCTTGTTGTAGTCCAGTAACCACACACTCTAAGTTTGTCACAGTCTTAAATTTAATCCAGTCCTGGGTGCCTTCTTCTTGATATTCTACCAAATATCCAGTGATTGGAGAACCACCATCACGATCCGGCTTATTCCAGACTAGGGAGACTTCAGTCTTGTCAACATCTACATGGTGCAGGTCCTTGGGTGGCCCTGGGGGATCTTTTCAAAGAAGAAGTTATGATGAAAAAGTAATATTCTTAAAGACAGTCAAACAATAGTTTTGTATTCAGAGAAAGCAACTTACGGAGAGGATCCAAAGCCTTGATTGG... | pathogenic | 49,581 |
A genetic variant on chromosome 2, position 178593819, affects the gene TTN. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | ATATTCTACCAAATATCCAGTGATTGGAGAACCACCATCACGATCCGGCTTATTCCAGACTAGGGAGACTTCAGTCTTGTCAACATCTACATGGTGCAGGTCCTTGGGTGGCCCTGGGGGATCTTTTCAAAGAAGAAGTTATGATGAAAAAGTAATATTCTTAAAGACAGTCAAACAATAGTTTTGTATTCAGAGAAAGCAACTTACGGAGAGGATCCAAAGCCTTGATTGGTTTTGGTGTTTCAACAAAAGGACCACGTCCATACTGGTTCTCCGCAGCTACTCGGAAGAGGTACTGGTTGCCTTCATTCAGATGCTTA... | ATATTCTACCAAATATCCAGTGATTGGAGAACCACCATCACGATCCGGCTTATTCCAGACTAGGGAGACTTCAGTCTTGTCAACATCTACATGGTGCAGGTCCTTGGGTGGCCCTGGGGGATCTTTTCAAAGAAGAAGTTATGATGAAAAAGTAATATTCTTAAAGACAGTCAAACAATAGTTTTGTATTCAGAGAAAGCAACTTACGGAGAGGATCCAAAGCCTTGATTGGTTTTGGTGTTTCAACAAAAGGACCACGTCCATACTGGTTCTCCGCAGCTACTCGGAAGAGGTACTGGTTGCCTTCATTCAGATGCTTA... | pathogenic | 49,583 |
Considering the genetic mutation at chromosome 2, position 178594216, 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'] | ATAATTGGTAATAACAGAACCACCATCATCCAGTGGTTCTTTCCAAGTAAGGTAACATGAATCTTTCCTAATTTCACTGACTTCCAGATCTCTAGGTGGCCCAGGTTTATCTAAAAAGTGTTAAATAACAGTTTGATAAGTAATTTTATCCATATAAGAGCTCAAAATTATCAAAATTTATTTTTAATGGCCTAAGTAGTAAAATTCTTACCTAATACAAGTACTTTTACTGAGACAGTTTTTGAACCAGCTGGATTCTCCACTGTTAAAGAATAAATTCCACCATCTTCATGGGCAGCATTACGAATTTCAAGCTTGCT... | ATAATTGGTAATAACAGAACCACCATCATCCAGTGGTTCTTTCCAAGTAAGGTAACATGAATCTTTCCTAATTTCACTGACTTCCAGATCTCTAGGTGGCCCAGGTTTATCTAAAAAGTGTTAAATAACAGTTTGATAAGTAATTTTATCCATATAAGAGCTCAAAATTATCAAAATTTATTTTTAATGGCCTAAGTAGTAAAATTCTTACCTAATACAAGTACTTTTACTGAGACAGTTTTTGAACCAGCTGGATTCTCCACTGTTAAAGAATAAATTCCACCATCTTCATGGGCAGCATTACGAATTTCAAGCTTGCT... | pathogenic | 49,601 |
Variant in gene TTN, located at chromosome 2 position 178594376: 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'] | CTCAAAATTATCAAAATTTATTTTTAATGGCCTAAGTAGTAAAATTCTTACCTAATACAAGTACTTTTACTGAGACAGTTTTTGAACCAGCTGGATTCTCCACTGTTAAAGAATAAATTCCACCATCTTCATGGGCAGCATTACGAATTTCAAGCTTGCTACCAACTGGAGTCACATCAATTCTTGCTTTAGTTGGAGCATCTCTGTCTTCTTTTTTCCAAGTTACTTTTGGGAATGGCACTCCTTTGATGATGGCACTAAGTCTTAGAGTATCACCAACTTTAATGTGTTGTTCTCTTGCCATGTTGGCATCAAGAATC... | CTCAAAATTATCAAAATTTATTTTTAATGGCCTAAGTAGTAAAATTCTTACCTAATACAAGTACTTTTACTGAGACAGTTTTTGAACCAGCTGGATTCTCCACTGTTAAAGAATAAATTCCACCATCTTCATGGGCAGCATTACGAATTTCAAGCTTGCTACCAACTGGAGTCACATCAATTCTTGCTTTAGTTGGAGCATCTCTGTCTTCTTTTTTCCAAGTTACTTTTGGGAATGGCACTCCTTTGATGATGGCACTAAGTCTTAGAGTATCACCAACTTTAATGTGTTGTTCTCTTGCCATGTTGGCATCAAGAATC... | pathogenic | 49,606 |
Does the chromosome 2 mutation at position 178594498 within gene TTN classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiomyopathy', 'Primary_dilated_cardiomyopathy'] | CCATCTTCATGGGCAGCATTACGAATTTCAAGCTTGCTACCAACTGGAGTCACATCAATTCTTGCTTTAGTTGGAGCATCTCTGTCTTCTTTTTTCCAAGTTACTTTTGGGAATGGCACTCCTTTGATGATGGCACTAAGTCTTAGAGTATCACCAACTTTAATGTGTTGTTCTCTTGCCATGTTGGCATCAAGAATCAACTCAGGGGGTTCTAGAATAAAGAGAACAGAACACTCAGATTTGATCCATAATGCAGATTACAATTAAACACATACAATCAGACATCTATTTTCCTTGCAAACACAAGTGAGAGCATTTTA... | CCATCTTCATGGGCAGCATTACGAATTTCAAGCTTGCTACCAACTGGAGTCACATCAATTCTTGCTTTAGTTGGAGCATCTCTGTCTTCTTTTTTCCAAGTTACTTTTGGGAATGGCACTCCTTTGATGATGGCACTAAGTCTTAGAGTATCACCAACTTTAATGTGTTGTTCTCTTGCCATGTTGGCATCAAGAATCAACTCAGGGGGTTCTAGAATAAAGAGAACAGAACACTCAGATTTGATCCATAATGCAGATTACAATTAAACACATACAATCAGACATCTATTTTCCTTGCAAACACAAGTGAGAGCATTTTA... | pathogenic | 49,609 |
Is the variant located on chromosome 2 at position 178594639, gene TTN, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CTTAGAGTATCACCAACTTTAATGTGTTGTTCTCTTGCCATGTTGGCATCAAGAATCAACTCAGGGGGTTCTAGAATAAAGAGAACAGAACACTCAGATTTGATCCATAATGCAGATTACAATTAAACACATACAATCAGACATCTATTTTCCTTGCAAACACAAGTGAGAGCATTTTACTCACCAAGCCTGTCTTTTACTAGGACTGGCTCCGGAACATGAGCTGGATCTGATTCACCAGCTGCATTGACTGCTAACACTCTAAACTTATAGGTTTGACCGTCCCGAAGACCGGTGACTTTATATTTAGTTTCAGGACA... | CTTAGAGTATCACCAACTTTAATGTGTTGTTCTCTTGCCATGTTGGCATCAAGAATCAACTCAGGGGGTTCTAGAATAAAGAGAACAGAACACTCAGATTTGATCCATAATGCAGATTACAATTAAACACATACAATCAGACATCTATTTTCCTTGCAAACACAAGTGAGAGCATTTTACTCACCAAGCCTGTCTTTTACTAGGACTGGCTCCGGAACATGAGCTGGATCTGATTCACCAGCTGCATTGACTGCTAACACTCTAAACTTATAGGTTTGACCGTCCCGAAGACCGGTGACTTTATATTTAGTTTCAGGACA... | pathogenic | 49,614 |
Clinical classification of chromosome 2, position 178594644, gene TTN: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AGTATCACCAACTTTAATGTGTTGTTCTCTTGCCATGTTGGCATCAAGAATCAACTCAGGGGGTTCTAGAATAAAGAGAACAGAACACTCAGATTTGATCCATAATGCAGATTACAATTAAACACATACAATCAGACATCTATTTTCCTTGCAAACACAAGTGAGAGCATTTTACTCACCAAGCCTGTCTTTTACTAGGACTGGCTCCGGAACATGAGCTGGATCTGATTCACCAGCTGCATTGACTGCTAACACTCTAAACTTATAGGTTTGACCGTCCCGAAGACCGGTGACTTTATATTTAGTTTCAGGACATGACT... | AGTATCACCAACTTTAATGTGTTGTTCTCTTGCCATGTTGGCATCAAGAATCAACTCAGGGGGTTCTAGAATAAAGAGAACAGAACACTCAGATTTGATCCATAATGCAGATTACAATTAAACACATACAATCAGACATCTATTTTCCTTGCAAACACAAGTGAGAGCATTTTACTCACCAAGCCTGTCTTTTACTAGGACTGGCTCCGGAACATGAGCTGGATCTGATTCACCAGCTGCATTGACTGCTAACACTCTAAACTTATAGGTTTGACCGTCCCGAAGACCGGTGACTTTATATTTAGTTTCAGGACATGACT... | pathogenic | 49,615 |
Is the genetic mutation found on chromosome 2 at position 178595487, within the gene TTN, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCTGTAACAATTGGCTGATCAGGTGCATCAGGAACCCCTGTAACAAATGTTGGAAAATGCGTTAGAAATTTATTTCTTTATATTAGTTTTATCAAGCATTGAATCACTAAAAAGAAACATAATGCATACTGAAACGATCTTTGGCTTTCATTGAATCAGACACCAGAGGATCACTTATTCCATACAGATTTTCAGCATGTATCCGGAAAATATAATCTTTTCCTTCAAGTAGTTTAGAAACTTTGCATGTTGTTTTAGCACTTGCAGATGTCACTGGCATCCAGACGTCTTTACCCACTTCCTTCTTCTCAATAATATAA... | TCTGTAACAATTGGCTGATCAGGTGCATCAGGAACCCCTGTAACAAATGTTGGAAAATGCGTTAGAAATTTATTTCTTTATATTAGTTTTATCAAGCATTGAATCACTAAAAAGAAACATAATGCATACTGAAACGATCTTTGGCTTTCATTGAATCAGACACCAGAGGATCACTTATTCCATACAGATTTTCAGCATGTATCCGGAAAATATAATCTTTTCCTTCAAGTAGTTTAGAAACTTTGCATGTTGTTTTAGCACTTGCAGATGTCACTGGCATCCAGACGTCTTTACCCACTTCCTTCTTCTCAATAATATAA... | benign | 49,618 |
Variant chromosome 2, position 178595487, gene TTN: benign or pathogenic? Disease(s)? | benign | TCTGTAACAATTGGCTGATCAGGTGCATCAGGAACCCCTGTAACAAATGTTGGAAAATGCGTTAGAAATTTATTTCTTTATATTAGTTTTATCAAGCATTGAATCACTAAAAAGAAACATAATGCATACTGAAACGATCTTTGGCTTTCATTGAATCAGACACCAGAGGATCACTTATTCCATACAGATTTTCAGCATGTATCCGGAAAATATAATCTTTTCCTTCAAGTAGTTTAGAAACTTTGCATGTTGTTTTAGCACTTGCAGATGTCACTGGCATCCAGACGTCTTTACCCACTTCCTTCTTCTCAATAATATAA... | TCTGTAACAATTGGCTGATCAGGTGCATCAGGAACCCCTGTAACAAATGTTGGAAAATGCGTTAGAAATTTATTTCTTTATATTAGTTTTATCAAGCATTGAATCACTAAAAAGAAACATAATGCATACTGAAACGATCTTTGGCTTTCATTGAATCAGACACCAGAGGATCACTTATTCCATACAGATTTTCAGCATGTATCCGGAAAATATAATCTTTTCCTTCAAGTAGTTTAGAAACTTTGCATGTTGTTTTAGCACTTGCAGATGTCACTGGCATCCAGACGTCTTTACCCACTTCCTTCTTCTCAATAATATAA... | benign | 49,619 |
The chromosome 2, position 178595795 genetic variant in gene TTN: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TCAATAATATAATTGGTGATTTTACTGCCTCCATCATCTAAAGGAGGCTTCCAAGAGATAACCATGTAATCTTTGGTCACCTCATCAAAACTAACTGGTCCTACTGGTGGTCCAGGACGGTCTGCAGAAAAAAAAAATCATGGCACAAAATGTTATTGCCATTTCTGCTTTTGAAAGAACAGAAGATCTATTCTTTCCACTAAATAAGACTTACCAACAACATTAACTTGACAGAAACCTTTCCTAGAGCCTGTACTGTTCTCCACAACCACACAGTATTTGCCGGAATCTGAACGTTTGGCCTTGATCTTCTCTAAAGC... | TCAATAATATAATTGGTGATTTTACTGCCTCCATCATCTAAAGGAGGCTTCCAAGAGATAACCATGTAATCTTTGGTCACCTCATCAAAACTAACTGGTCCTACTGGTGGTCCAGGACGGTCTGCAGAAAAAAAAAATCATGGCACAAAATGTTATTGCCATTTCTGCTTTTGAAAGAACAGAAGATCTATTCTTTCCACTAAATAAGACTTACCAACAACATTAACTTGACAGAAACCTTTCCTAGAGCCTGTACTGTTCTCCACAACCACACAGTATTTGCCGGAATCTGAACGTTTGGCCTTGATCTTCTCTAAAGC... | pathogenic | 49,631 |
Does the genetic variant at chromosome 2, position 178595817, impacting gene TTN, appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TACTGCCTCCATCATCTAAAGGAGGCTTCCAAGAGATAACCATGTAATCTTTGGTCACCTCATCAAAACTAACTGGTCCTACTGGTGGTCCAGGACGGTCTGCAGAAAAAAAAAATCATGGCACAAAATGTTATTGCCATTTCTGCTTTTGAAAGAACAGAAGATCTATTCTTTCCACTAAATAAGACTTACCAACAACATTAACTTGACAGAAACCTTTCCTAGAGCCTGTACTGTTCTCCACAACCACACAGTATTTGCCGGAATCTGAACGTTTGGCCTTGATCTTCTCTAAAGCAAGTGTTGCTGGTGTAGTCTTT... | TACTGCCTCCATCATCTAAAGGAGGCTTCCAAGAGATAACCATGTAATCTTTGGTCACCTCATCAAAACTAACTGGTCCTACTGGTGGTCCAGGACGGTCTGCAGAAAAAAAAAATCATGGCACAAAATGTTATTGCCATTTCTGCTTTTGAAAGAACAGAAGATCTATTCTTTCCACTAAATAAGACTTACCAACAACATTAACTTGACAGAAACCTTTCCTAGAGCCTGTACTGTTCTCCACAACCACACAGTATTTGCCGGAATCTGAACGTTTGGCCTTGATCTTCTCTAAAGCAAGTGTTGCTGGTGTAGTCTTT... | benign | 49,634 |
Gene mutation in TTN at chromosome 2, position 178597618—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TTTCAGCCGCAATTCGGAAAAAGTAGGCTTTTCCTTGAATGAGACCCTGGACAGTAGCATTTTGTCGGGTAACTGTATATGTCACTGGGGTCCATGCTCTGCGGTCAGATTCACGCTTTTCAATGACATAATTGGTGATTGGAGAGCCTCCATCATCTTCTGGAGAAAACCATGTCAGTTTGCAGGACTCATTGGTTAGGTTGTGAGCTAGGAATGGTGTTCCAACGGGACCTGGAACATCTGGAAATAAGAAGAAAATAATTCAAGCTGTTTGCCTTCAATGAAAGATAATGCTCAACACTTGTTTTTTTAAAAGGAGA... | TTTCAGCCGCAATTCGGAAAAAGTAGGCTTTTCCTTGAATGAGACCCTGGACAGTAGCATTTTGTCGGGTAACTGTATATGTCACTGGGGTCCATGCTCTGCGGTCAGATTCACGCTTTTCAATGACATAATTGGTGATTGGAGAGCCTCCATCATCTTCTGGAGAAAACCATGTCAGTTTGCAGGACTCATTGGTTAGGTTGTGAGCTAGGAATGGTGTTCCAACGGGACCTGGAACATCTGGAAATAAGAAGAAAATAATTCAAGCTGTTTGCCTTCAATGAAAGATAATGCTCAACACTTGTTTTTTTAAAAGGAGA... | benign | 49,639 |
Does the variant on chromosome 2 at location 178597747 affecting gene TTN have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AATTGGTGATTGGAGAGCCTCCATCATCTTCTGGAGAAAACCATGTCAGTTTGCAGGACTCATTGGTTAGGTTGTGAGCTAGGAATGGTGTTCCAACGGGACCTGGAACATCTGGAAATAAGAAGAAAATAATTCAAGCTGTTTGCCTTCAATGAAAGATAATGCTCAACACTTGTTTTTTTAAAAGGAGACAAAAATGTTGTTTTGAAGAAAGTAAGGTTTTGTGTCTACTAATTGAGTTAGTTTTTCCTTCTGCTATCTAGTCAATACAAAAACAGTCAACCACTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGAGT... | AATTGGTGATTGGAGAGCCTCCATCATCTTCTGGAGAAAACCATGTCAGTTTGCAGGACTCATTGGTTAGGTTGTGAGCTAGGAATGGTGTTCCAACGGGACCTGGAACATCTGGAAATAAGAAGAAAATAATTCAAGCTGTTTGCCTTCAATGAAAGATAATGCTCAACACTTGTTTTTTTAAAAGGAGACAAAAATGTTGTTTTGAAGAAAGTAAGGTTTTGTGTCTACTAATTGAGTTAGTTTTTCCTTCTGCTATCTAGTCAATACAAAAACAGTCAACCACTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGAGT... | pathogenic | 49,647 |
Evaluate if the mutation on chromosome 2 at position 178597778 in TTN is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TGGAGAAAACCATGTCAGTTTGCAGGACTCATTGGTTAGGTTGTGAGCTAGGAATGGTGTTCCAACGGGACCTGGAACATCTGGAAATAAGAAGAAAATAATTCAAGCTGTTTGCCTTCAATGAAAGATAATGCTCAACACTTGTTTTTTTAAAAGGAGACAAAAATGTTGTTTTGAAGAAAGTAAGGTTTTGTGTCTACTAATTGAGTTAGTTTTTCCTTCTGCTATCTAGTCAATACAAAAACAGTCAACCACTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGAGTCTCGCTCTGTCACCCAGGCTGGAGTTCAGTG... | TGGAGAAAACCATGTCAGTTTGCAGGACTCATTGGTTAGGTTGTGAGCTAGGAATGGTGTTCCAACGGGACCTGGAACATCTGGAAATAAGAAGAAAATAATTCAAGCTGTTTGCCTTCAATGAAAGATAATGCTCAACACTTGTTTTTTTAAAAGGAGACAAAAATGTTGTTTTGAAGAAAGTAAGGTTTTGTGTCTACTAATTGAGTTAGTTTTTCCTTCTGCTATCTAGTCAATACAAAAACAGTCAACCACTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGAGTCTCGCTCTGTCACCCAGGCTGGAGTTCAGTG... | pathogenic | 49,650 |
Determine if the mutation at chromosome 2, position 178598042 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'] | TTTTTTTTTTTTTTGAGATGGGAGTCTCGCTCTGTCACCCAGGCTGGAGTTCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCATACCAGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTCAGGGGATTACAGGTGTGAGCCATAGCATCAAGCCCCATATTTGTTAATGAAGTAGGT... | TTTTTTTTTTTTTTGAGATGGGAGTCTCGCTCTGTCACCCAGGCTGGAGTTCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCATACCAGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTCAGGGGATTACAGGTGTGAGCCATAGCATCAAGCCCCATATTTGTTAATGAAGTAGGT... | pathogenic | 49,657 |
Determine whether the variant at chromosome 2, position 178598559, 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', 'Primary_dilated_cardiomyopathy'] | TATTTCTGGATGACCAGTGGATCAACAAGCAGCATAGGAGGCCCCAAATTTCAGAATGACTTTGAGGAGGTTGCAAATAATTAACGTGGAAATGTACCAGTTCTCAAATTAAAGTAATAACCATTAGGCAAAAGAGCTTTAGGTGCTTGAAACTAACCTGAAAGTTTGTGGGGCTACTGCTTAATGAAATATTTTTCCTTATGCCATTCTTATATTAATTATATTCAACATAGAACTGGCAATTTTCACATAAAAACTGTGGCTGGAGTATTGTTGTGCCTAGAGACATGCTTAGAAAGAGCCCTGAGTGGAAAGGCTTC... | TATTTCTGGATGACCAGTGGATCAACAAGCAGCATAGGAGGCCCCAAATTTCAGAATGACTTTGAGGAGGTTGCAAATAATTAACGTGGAAATGTACCAGTTCTCAAATTAAAGTAATAACCATTAGGCAAAAGAGCTTTAGGTGCTTGAAACTAACCTGAAAGTTTGTGGGGCTACTGCTTAATGAAATATTTTTCCTTATGCCATTCTTATATTAATTATATTCAACATAGAACTGGCAATTTTCACATAAAAACTGTGGCTGGAGTATTGTTGTGCCTAGAGACATGCTTAGAAAGAGCCCTGAGTGGAAAGGCTTC... | pathogenic | 49,661 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 178598672, gene TTN. What disease(s) is it linked to if pathogenic? | benign | GTAATAACCATTAGGCAAAAGAGCTTTAGGTGCTTGAAACTAACCTGAAAGTTTGTGGGGCTACTGCTTAATGAAATATTTTTCCTTATGCCATTCTTATATTAATTATATTCAACATAGAACTGGCAATTTTCACATAAAAACTGTGGCTGGAGTATTGTTGTGCCTAGAGACATGCTTAGAAAGAGCCCTGAGTGGAAAGGCTTCGTGTTCTGAGCAAATCACTGGACTAAAGCCTCCAGTGAGAGCCATGAAAAAGCCTCATAGAGTTCAACTCTATATTCAGTGACTAGAAATGCAATATTGATAACCAACTATGA... | GTAATAACCATTAGGCAAAAGAGCTTTAGGTGCTTGAAACTAACCTGAAAGTTTGTGGGGCTACTGCTTAATGAAATATTTTTCCTTATGCCATTCTTATATTAATTATATTCAACATAGAACTGGCAATTTTCACATAAAAACTGTGGCTGGAGTATTGTTGTGCCTAGAGACATGCTTAGAAAGAGCCCTGAGTGGAAAGGCTTCGTGTTCTGAGCAAATCACTGGACTAAAGCCTCCAGTGAGAGCCATGAAAAAGCCTCATAGAGTTCAACTCTATATTCAGTGACTAGAAATGCAATATTGATAACCAACTATGA... | benign | 49,666 |
Gene mutation in TTN at chromosome 2, position 178598719—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AAAGTTTGTGGGGCTACTGCTTAATGAAATATTTTTCCTTATGCCATTCTTATATTAATTATATTCAACATAGAACTGGCAATTTTCACATAAAAACTGTGGCTGGAGTATTGTTGTGCCTAGAGACATGCTTAGAAAGAGCCCTGAGTGGAAAGGCTTCGTGTTCTGAGCAAATCACTGGACTAAAGCCTCCAGTGAGAGCCATGAAAAAGCCTCATAGAGTTCAACTCTATATTCAGTGACTAGAAATGCAATATTGATAACCAACTATGATGCTTCTCTTCAATTAGAATACTGAAACCCTTCAAACAGGTTTTTGC... | AAAGTTTGTGGGGCTACTGCTTAATGAAATATTTTTCCTTATGCCATTCTTATATTAATTATATTCAACATAGAACTGGCAATTTTCACATAAAAACTGTGGCTGGAGTATTGTTGTGCCTAGAGACATGCTTAGAAAGAGCCCTGAGTGGAAAGGCTTCGTGTTCTGAGCAAATCACTGGACTAAAGCCTCCAGTGAGAGCCATGAAAAAGCCTCATAGAGTTCAACTCTATATTCAGTGACTAGAAATGCAATATTGATAACCAACTATGATGCTTCTCTTCAATTAGAATACTGAAACCCTTCAAACAGGTTTTTGC... | benign | 49,668 |
Clinical classification of chromosome 2, position 178598856, gene TTN: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | AGAGCCCTGAGTGGAAAGGCTTCGTGTTCTGAGCAAATCACTGGACTAAAGCCTCCAGTGAGAGCCATGAAAAAGCCTCATAGAGTTCAACTCTATATTCAGTGACTAGAAATGCAATATTGATAACCAACTATGATGCTTCTCTTCAATTAGAATACTGAAACCCTTCAAACAGGTTTTTGCATTATTATGATAATTTAGCGATAGGGGTAGAGTCTCATGATGTGAAATGGTCAGCACTGGCAAATTGTTAAACATTCATGTACAGTTTAAGGAAAGTTGCAGATTGTTAAACATTCATGTACAGTTTAAGGAAAGTT... | AGAGCCCTGAGTGGAAAGGCTTCGTGTTCTGAGCAAATCACTGGACTAAAGCCTCCAGTGAGAGCCATGAAAAAGCCTCATAGAGTTCAACTCTATATTCAGTGACTAGAAATGCAATATTGATAACCAACTATGATGCTTCTCTTCAATTAGAATACTGAAACCCTTCAAACAGGTTTTTGCATTATTATGATAATTTAGCGATAGGGGTAGAGTCTCATGATGTGAAATGGTCAGCACTGGCAAATTGTTAAACATTCATGTACAGTTTAAGGAAAGTTGCAGATTGTTAAACATTCATGTACAGTTTAAGGAAAGTT... | pathogenic | 49,672 |
Determine if the mutation at chromosome 2, position 178598968 in gene TTN is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G'] | TGCAATATTGATAACCAACTATGATGCTTCTCTTCAATTAGAATACTGAAACCCTTCAAACAGGTTTTTGCATTATTATGATAATTTAGCGATAGGGGTAGAGTCTCATGATGTGAAATGGTCAGCACTGGCAAATTGTTAAACATTCATGTACAGTTTAAGGAAAGTTGCAGATTGTTAAACATTCATGTACAGTTTAAGGAAAGTTGCTTCTATGAAAACTATATAACAACATAATAGACACTATGGGGGCAAGTTCTATAAAAAAGCCATATTTATTCTGGGCCATGATTCAGAATACATATTCATGGCCTTCTAGC... | TGCAATATTGATAACCAACTATGATGCTTCTCTTCAATTAGAATACTGAAACCCTTCAAACAGGTTTTTGCATTATTATGATAATTTAGCGATAGGGGTAGAGTCTCATGATGTGAAATGGTCAGCACTGGCAAATTGTTAAACATTCATGTACAGTTTAAGGAAAGTTGCAGATTGTTAAACATTCATGTACAGTTTAAGGAAAGTTGCTTCTATGAAAACTATATAACAACATAATAGACACTATGGGGGCAAGTTCTATAAAAAAGCCATATTTATTCTGGGCCATGATTCAGAATACATATTCATGGCCTTCTAGC... | pathogenic | 49,679 |
Is chromosome 2, position 178598977, gene TTN variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | GATAACCAACTATGATGCTTCTCTTCAATTAGAATACTGAAACCCTTCAAACAGGTTTTTGCATTATTATGATAATTTAGCGATAGGGGTAGAGTCTCATGATGTGAAATGGTCAGCACTGGCAAATTGTTAAACATTCATGTACAGTTTAAGGAAAGTTGCAGATTGTTAAACATTCATGTACAGTTTAAGGAAAGTTGCTTCTATGAAAACTATATAACAACATAATAGACACTATGGGGGCAAGTTCTATAAAAAAGCCATATTTATTCTGGGCCATGATTCAGAATACATATTCATGGCCTTCTAGCAATTTGAGA... | GATAACCAACTATGATGCTTCTCTTCAATTAGAATACTGAAACCCTTCAAACAGGTTTTTGCATTATTATGATAATTTAGCGATAGGGGTAGAGTCTCATGATGTGAAATGGTCAGCACTGGCAAATTGTTAAACATTCATGTACAGTTTAAGGAAAGTTGCAGATTGTTAAACATTCATGTACAGTTTAAGGAAAGTTGCTTCTATGAAAACTATATAACAACATAATAGACACTATGGGGGCAAGTTCTATAAAAAAGCCATATTTATTCTGGGCCATGATTCAGAATACATATTCATGGCCTTCTAGCAATTTGAGA... | pathogenic | 49,680 |
Is the genetic mutation found on chromosome 2 at position 178599194, 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'] | TAACAACATAATAGACACTATGGGGGCAAGTTCTATAAAAAAGCCATATTTATTCTGGGCCATGATTCAGAATACATATTCATGGCCTTCTAGCAATTTGAGAATTGTGTACATGCACTCTTTAGGTTCACTGGAAACATGGATGCATGTCTTCTTGTTAGCATCTGTTTTCTCAATTATATAATTTGTAAACTTACACCCACCATACAGAATACACATAGAATAAAAAAGTAAGGAGGAAATTTTTAAAAATTCTAATAATGTTCAACATGATTATGGGTGATTTTTCTTATTTTCCAAAATGTTTGTTACACAGCATA... | TAACAACATAATAGACACTATGGGGGCAAGTTCTATAAAAAAGCCATATTTATTCTGGGCCATGATTCAGAATACATATTCATGGCCTTCTAGCAATTTGAGAATTGTGTACATGCACTCTTTAGGTTCACTGGAAACATGGATGCATGTCTTCTTGTTAGCATCTGTTTTCTCAATTATATAATTTGTAAACTTACACCCACCATACAGAATACACATAGAATAAAAAAGTAAGGAGGAAATTTTTAAAAATTCTAATAATGTTCAACATGATTATGGGTGATTTTTCTTATTTTCCAAAATGTTTGTTACACAGCATA... | pathogenic | 49,688 |
Variant on chromosome 2, at position 178599216, affecting TTN: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | GGGGCAAGTTCTATAAAAAAGCCATATTTATTCTGGGCCATGATTCAGAATACATATTCATGGCCTTCTAGCAATTTGAGAATTGTGTACATGCACTCTTTAGGTTCACTGGAAACATGGATGCATGTCTTCTTGTTAGCATCTGTTTTCTCAATTATATAATTTGTAAACTTACACCCACCATACAGAATACACATAGAATAAAAAAGTAAGGAGGAAATTTTTAAAAATTCTAATAATGTTCAACATGATTATGGGTGATTTTTCTTATTTTCCAAAATGTTTGTTACACAGCATACAGCATAGCTTTGTGTAAATAT... | GGGGCAAGTTCTATAAAAAAGCCATATTTATTCTGGGCCATGATTCAGAATACATATTCATGGCCTTCTAGCAATTTGAGAATTGTGTACATGCACTCTTTAGGTTCACTGGAAACATGGATGCATGTCTTCTTGTTAGCATCTGTTTTCTCAATTATATAATTTGTAAACTTACACCCACCATACAGAATACACATAGAATAAAAAAGTAAGGAGGAAATTTTTAAAAATTCTAATAATGTTCAACATGATTATGGGTGATTTTTCTTATTTTCCAAAATGTTTGTTACACAGCATACAGCATAGCTTTGTGTAAATAT... | pathogenic | 49,689 |
Variant in gene TTN, located at chromosome 2 position 178599319: 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'] | GTTCACTGGAAACATGGATGCATGTCTTCTTGTTAGCATCTGTTTTCTCAATTATATAATTTGTAAACTTACACCCACCATACAGAATACACATAGAATAAAAAAGTAAGGAGGAAATTTTTAAAAATTCTAATAATGTTCAACATGATTATGGGTGATTTTTCTTATTTTCCAAAATGTTTGTTACACAGCATACAGCATAGCTTTGTGTAAATATAATAAGAATGTTGGTTTAAAAAGTTGCACAGACAAATTGAAAGTATTTACCTAATACATCAACAATAATTGTCTTCTTTCTTTCTCCGGCTTCATTTTTGGCA... | GTTCACTGGAAACATGGATGCATGTCTTCTTGTTAGCATCTGTTTTCTCAATTATATAATTTGTAAACTTACACCCACCATACAGAATACACATAGAATAAAAAAGTAAGGAGGAAATTTTTAAAAATTCTAATAATGTTCAACATGATTATGGGTGATTTTTCTTATTTTCCAAAATGTTTGTTACACAGCATACAGCATAGCTTTGTGTAAATATAATAAGAATGTTGGTTTAAAAAGTTGCACAGACAAATTGAAAGTATTTACCTAATACATCAACAATAATTGTCTTCTTTCTTTCTCCGGCTTCATTTTTGGCA... | pathogenic | 49,695 |
Chromosome 2, position 178599612, gene TTN: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TTTCTTTCTCCGGCTTCATTTTTGGCAAGAAGAGAATAGACGCCTTGATGGCTCCTCTGGCAGTTCTTGATGACCATGGATGAGCTAATGGCTGTGGTCTCAATGGTGGCTTCTTGAGGTAAGGTTCTTTCATTCATGTTCCAGGTGACGGTTGGAGGAGGCTTTCCAGACACATAGGCAATGATTCGGATCACCCCTCCAGCATGGACAACAATTCTATCTCTGACACTGGCATCTAGCTGAAGGTCAGGTGAAACTGGAAGCAATTGAAAATTACAAATGTGATTTTTCCCCTTCAATCTGAAACATAAATACTGATG... | TTTCTTTCTCCGGCTTCATTTTTGGCAAGAAGAGAATAGACGCCTTGATGGCTCCTCTGGCAGTTCTTGATGACCATGGATGAGCTAATGGCTGTGGTCTCAATGGTGGCTTCTTGAGGTAAGGTTCTTTCATTCATGTTCCAGGTGACGGTTGGAGGAGGCTTTCCAGACACATAGGCAATGATTCGGATCACCCCTCCAGCATGGACAACAATTCTATCTCTGACACTGGCATCTAGCTGAAGGTCAGGTGAAACTGGAAGCAATTGAAAATTACAAATGTGATTTTTCCCCTTCAATCTGAAACATAAATACTGATG... | pathogenic | 49,702 |
Is the variant located on chromosome 2 at position 178600863, gene TTN, benign or pathogenic? If pathogenic, specify the disease(s) linked. | 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'] | TGCATATACCCGGAATTGATAGTCGGAACCTTCAATAAGACCAGTCACTTTATAAGAAACACCCAAAGTCATGGCTTTGATAGGATCTCGGTTAACTCTCTTCCATCTCTTTGAAGTGGTGTCTTTCATTTCCAGCCAGTACCCTGTCACAGGAGAGCCTCCATCATATTCTGGCTCTTCCCAGTTGACAGTCATGGAGTTACGAGTCACGCTGCTAACTGTTGGTTTATCTGGTGCTCCAGGGACAGCTGTGAAAAAGATCATATTGATTATAAGAAATTTAAAAAAAAAGTAAAAATGGCTTTGTATGTGAAAATGTT... | TGCATATACCCGGAATTGATAGTCGGAACCTTCAATAAGACCAGTCACTTTATAAGAAACACCCAAAGTCATGGCTTTGATAGGATCTCGGTTAACTCTCTTCCATCTCTTTGAAGTGGTGTCTTTCATTTCCAGCCAGTACCCTGTCACAGGAGAGCCTCCATCATATTCTGGCTCTTCCCAGTTGACAGTCATGGAGTTACGAGTCACGCTGCTAACTGTTGGTTTATCTGGTGCTCCAGGGACAGCTGTGAAAAAGATCATATTGATTATAAGAAATTTAAAAAAAAAGTAAAAATGGCTTTGTATGTGAAAATGTT... | pathogenic | 49,717 |
Evaluate if the mutation on chromosome 2 at position 178601016 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'] | AGAGCCTCCATCATATTCTGGCTCTTCCCAGTTGACAGTCATGGAGTTACGAGTCACGCTGCTAACTGTTGGTTTATCTGGTGCTCCAGGGACAGCTGTGAAAAAGATCATATTGATTATAAGAAATTTAAAAAAAAAGTAAAAATGGCTTTGTATGTGAAAATGTTCTCCTACTTACAGAAGAGGTTTCTTGCTGTTTCAGGTTCACTGTCAAGAGGTTCTCCAATGCCATATTTATTCTGGGCCATGATTCGGAATACATATTCATGGCCTTCTAGCAATTTGGGAATCGTGTACGTGCACTCCTTAGGTTCACTGGA... | AGAGCCTCCATCATATTCTGGCTCTTCCCAGTTGACAGTCATGGAGTTACGAGTCACGCTGCTAACTGTTGGTTTATCTGGTGCTCCAGGGACAGCTGTGAAAAAGATCATATTGATTATAAGAAATTTAAAAAAAAAGTAAAAATGGCTTTGTATGTGAAAATGTTCTCCTACTTACAGAAGAGGTTTCTTGCTGTTTCAGGTTCACTGTCAAGAGGTTCTCCAATGCCATATTTATTCTGGGCCATGATTCGGAATACATATTCATGGCCTTCTAGCAATTTGGGAATCGTGTACGTGCACTCCTTAGGTTCACTGGA... | pathogenic | 49,726 |
Chromosome 2, position 178601454, 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'] | GATTCAAATTTTATGGGTCCCACTGGAGGGCCAGGACGACCTAAAATGGTTTAAAGAAGGAACCCTTTATCACTCAGATGATTTTAAAGCCAAATGTTATTTATGAACAGAAAAACAAGTAATTTTAACCAAACCATGCAGTCTTTACCCAGGACATTCAGTCTCATCTCCTTTGATGCTGTTCCCAGATTATTTACAGCTGTGATGGTATATAAGCCAGTGTCACTCCTGCGAGACTGCGGAATAACTAAAGTGCAAGTATCATCTACCACCAGTTTGTTGACATGGGTGTCATAGAGAACAGGTTCTTTGTTATCAGG... | GATTCAAATTTTATGGGTCCCACTGGAGGGCCAGGACGACCTAAAATGGTTTAAAGAAGGAACCCTTTATCACTCAGATGATTTTAAAGCCAAATGTTATTTATGAACAGAAAAACAAGTAATTTTAACCAAACCATGCAGTCTTTACCCAGGACATTCAGTCTCATCTCCTTTGATGCTGTTCCCAGATTATTTACAGCTGTGATGGTATATAAGCCAGTGTCACTCCTGCGAGACTGCGGAATAACTAAAGTGCAAGTATCATCTACCACCAGTTTGTTGACATGGGTGTCATAGAGAACAGGTTCTTTGTTATCAGG... | pathogenic | 49,741 |
Benign or pathogenic: chromosome 2, position 178601535, gene TTN variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TTTTAAAGCCAAATGTTATTTATGAACAGAAAAACAAGTAATTTTAACCAAACCATGCAGTCTTTACCCAGGACATTCAGTCTCATCTCCTTTGATGCTGTTCCCAGATTATTTACAGCTGTGATGGTATATAAGCCAGTGTCACTCCTGCGAGACTGCGGAATAACTAAAGTGCAAGTATCATCTACCACCAGTTTGTTGACATGGGTGTCATAGAGAACAGGTTCTTTGTTATCAGGCTTCTTTGGAGGAGCTTTAAACCAGGTTAGTGTCGGGAATGGCACACCTTTAATTTTGGCCACAATGTTAACATTGGTTCC... | TTTTAAAGCCAAATGTTATTTATGAACAGAAAAACAAGTAATTTTAACCAAACCATGCAGTCTTTACCCAGGACATTCAGTCTCATCTCCTTTGATGCTGTTCCCAGATTATTTACAGCTGTGATGGTATATAAGCCAGTGTCACTCCTGCGAGACTGCGGAATAACTAAAGTGCAAGTATCATCTACCACCAGTTTGTTGACATGGGTGTCATAGAGAACAGGTTCTTTGTTATCAGGCTTCTTTGGAGGAGCTTTAAACCAGGTTAGTGTCGGGAATGGCACACCTTTAATTTTGGCCACAATGTTAACATTGGTTCC... | pathogenic | 49,743 |
Benign or pathogenic: chromosome 2, position 178601664, gene TTN variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TATAAGCCAGTGTCACTCCTGCGAGACTGCGGAATAACTAAAGTGCAAGTATCATCTACCACCAGTTTGTTGACATGGGTGTCATAGAGAACAGGTTCTTTGTTATCAGGCTTCTTTGGAGGAGCTTTAAACCAGGTTAGTGTCGGGAATGGCACACCTTTAATTTTGGCCACAATGTTAACATTGGTTCCTTCTTCAACCTCCATGAATTCTTTTAGATCAATTGATGGTGGGCCTAGATTATTTAAAAAAAGTTGTCATTAGGAGCAAAAAGCATTGAGGGATAGAAAGTAGAATTCACAGTTACTATAAAGTTGTTT... | TATAAGCCAGTGTCACTCCTGCGAGACTGCGGAATAACTAAAGTGCAAGTATCATCTACCACCAGTTTGTTGACATGGGTGTCATAGAGAACAGGTTCTTTGTTATCAGGCTTCTTTGGAGGAGCTTTAAACCAGGTTAGTGTCGGGAATGGCACACCTTTAATTTTGGCCACAATGTTAACATTGGTTCCTTCTTCAACCTCCATGAATTCTTTTAGATCAATTGATGGTGGGCCTAGATTATTTAAAAAAAGTTGTCATTAGGAGCAAAAAGCATTGAGGGATAGAAAGTAGAATTCACAGTTACTATAAAGTTGTTT... | pathogenic | 49,746 |
Clinically, how would you classify the variant at chromosome 2, position 178601686, gene TTN: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | GAGACTGCGGAATAACTAAAGTGCAAGTATCATCTACCACCAGTTTGTTGACATGGGTGTCATAGAGAACAGGTTCTTTGTTATCAGGCTTCTTTGGAGGAGCTTTAAACCAGGTTAGTGTCGGGAATGGCACACCTTTAATTTTGGCCACAATGTTAACATTGGTTCCTTCTTCAACCTCCATGAATTCTTTTAGATCAATTGATGGTGGGCCTAGATTATTTAAAAAAAGTTGTCATTAGGAGCAAAAAGCATTGAGGGATAGAAAGTAGAATTCACAGTTACTATAAAGTTGTTTGGATCCACTGTAGGCAGACTTT... | GAGACTGCGGAATAACTAAAGTGCAAGTATCATCTACCACCAGTTTGTTGACATGGGTGTCATAGAGAACAGGTTCTTTGTTATCAGGCTTCTTTGGAGGAGCTTTAAACCAGGTTAGTGTCGGGAATGGCACACCTTTAATTTTGGCCACAATGTTAACATTGGTTCCTTCTTCAACCTCCATGAATTCTTTTAGATCAATTGATGGTGGGCCTAGATTATTTAAAAAAAGTTGTCATTAGGAGCAAAAAGCATTGAGGGATAGAAAGTAGAATTCACAGTTACTATAAAGTTGTTTGGATCCACTGTAGGCAGACTTT... | pathogenic | 49,749 |
Gene TTN variant at chromosome position 178602097 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'] | ATCTACATGTGGCTATGTATCTGTGCTTGCCTCACTTTATTTGGCATCATTATGCATGTAATGATGTGTATTATTATATTCTCATATCCTGACAAAAGGGAAGAGAGGAGATTGTAGTAGGAGAGTATCATGGGATACTCTCTTTAATATTTACACAGAATTATGAAGGGATACACAAGAAGGTGAATTCCCCTTTTAAGAAATATAACTGTTAATAAAAGGAAAGCAATTTTCCATTTTGCACAAATTTAGGACAGAAATATTCAAAGAGGGTAGTGACTACAGTTTCTTCACACTTAGATGAGAGAATAAACAAATAC... | ATCTACATGTGGCTATGTATCTGTGCTTGCCTCACTTTATTTGGCATCATTATGCATGTAATGATGTGTATTATTATATTCTCATATCCTGACAAAAGGGAAGAGAGGAGATTGTAGTAGGAGAGTATCATGGGATACTCTCTTTAATATTTACACAGAATTATGAAGGGATACACAAGAAGGTGAATTCCCCTTTTAAGAAATATAACTGTTAATAAAAGGAAAGCAATTTTCCATTTTGCACAAATTTAGGACAGAAATATTCAAAGAGGGTAGTGACTACAGTTTCTTCACACTTAGATGAGAGAATAAACAAATAC... | pathogenic | 49,765 |
Gene TTN variant at chromosome 2, position 178602141—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'] | CATCATTATGCATGTAATGATGTGTATTATTATATTCTCATATCCTGACAAAAGGGAAGAGAGGAGATTGTAGTAGGAGAGTATCATGGGATACTCTCTTTAATATTTACACAGAATTATGAAGGGATACACAAGAAGGTGAATTCCCCTTTTAAGAAATATAACTGTTAATAAAAGGAAAGCAATTTTCCATTTTGCACAAATTTAGGACAGAAATATTCAAAGAGGGTAGTGACTACAGTTTCTTCACACTTAGATGAGAGAATAAACAAATACACAACAGTAGTGATGGTAATTATCAGAGGAAGAATTATTACCAT... | CATCATTATGCATGTAATGATGTGTATTATTATATTCTCATATCCTGACAAAAGGGAAGAGAGGAGATTGTAGTAGGAGAGTATCATGGGATACTCTCTTTAATATTTACACAGAATTATGAAGGGATACACAAGAAGGTGAATTCCCCTTTTAAGAAATATAACTGTTAATAAAAGGAAAGCAATTTTCCATTTTGCACAAATTTAGGACAGAAATATTCAAAGAGGGTAGTGACTACAGTTTCTTCACACTTAGATGAGAGAATAAACAAATACACAACAGTAGTGATGGTAATTATCAGAGGAAGAATTATTACCAT... | pathogenic | 49,767 |
Evaluate this variant at chromosome 2, position 178602402, gene TTN: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AGAATAAACAAATACACAACAGTAGTGATGGTAATTATCAGAGGAAGAATTATTACCATATATATATATATATATATATATATATATACTTCATTAAAATGGATATATCTTTTCTCATATAGAGAAATAAAAACTTGATTGTGAAGATAAATGGGTCTCAGCAGTTGCTAAGAAAATGACTGGTTACTTTCTGTCCCTTTTGAGGAGCATGCAGAGAAATTGCTTTAGCCTCTGATAAATAAAACAGACTGCGAGGAAAATTACAGCGAGGAAATTACAGACATCATCTCCTTTGAACAGGGAAAAGGTAACAGGTAAGG... | AGAATAAACAAATACACAACAGTAGTGATGGTAATTATCAGAGGAAGAATTATTACCATATATATATATATATATATATATATATATACTTCATTAAAATGGATATATCTTTTCTCATATAGAGAAATAAAAACTTGATTGTGAAGATAAATGGGTCTCAGCAGTTGCTAAGAAAATGACTGGTTACTTTCTGTCCCTTTTGAGGAGCATGCAGAGAAATTGCTTTAGCCTCTGATAAATAAAACAGACTGCGAGGAAAATTACAGCGAGGAAATTACAGACATCATCTCCTTTGAACAGGGAAAAGGTAACAGGTAAGG... | pathogenic | 49,771 |
A genetic alteration at chromosome 2, position 178602603, in gene TTN—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GAGGAGCATGCAGAGAAATTGCTTTAGCCTCTGATAAATAAAACAGACTGCGAGGAAAATTACAGCGAGGAAATTACAGACATCATCTCCTTTGAACAGGGAAAAGGTAACAGGTAAGGGAATGTGAAAATTCTGTGGAAATTGAAGGAATGAGTAATTAAGTAATGTGCCCATGTCTACATTCAAGCCATAGTAGCTTCCTAAGGTACAGATATAGCTCTTTTAATTGTGAACTATTATTGAACACCTAGGAAGGCAGCTGTAAGGAGGACATTCTTTGTCAGTACATTGGTACTTACATGTCTGGTCTTTGACAGTCA... | GAGGAGCATGCAGAGAAATTGCTTTAGCCTCTGATAAATAAAACAGACTGCGAGGAAAATTACAGCGAGGAAATTACAGACATCATCTCCTTTGAACAGGGAAAAGGTAACAGGTAAGGGAATGTGAAAATTCTGTGGAAATTGAAGGAATGAGTAATTAAGTAATGTGCCCATGTCTACATTCAAGCCATAGTAGCTTCCTAAGGTACAGATATAGCTCTTTTAATTGTGAACTATTATTGAACACCTAGGAAGGCAGCTGTAAGGAGGACATTCTTTGTCAGTACATTGGTACTTACATGTCTGGTCTTTGACAGTCA... | benign | 49,778 |
The genetic variant at chromosome 2, position 178603877, affecting gene TTN: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | AGCAATATTGAAGTCAACCATATTCTGAATTATTTTAATTATTATTTTTTTACCTGTGCATCTTCGGGTATGTCATGAACTCCATCCTATTAGAAAAGGAGACAGTCAGTTGTAGTATAAATACTCCTTATAGTGATTCAGTGGAAAAAAGAGGAGAATGGTTATTTTCCTACCTTCATTGCTTTCTTTGCCTTTCCATCAAATTCCCAAGATGATTTTGGTGTTGGGCGTCCCTTGATGACAGCAGGAATCCTAATCTGTGAGCCAGCTTTACAAACCAGACAGTCCTGTGCTCCAATGTCAATGAAAACTTCTGGTTC... | AGCAATATTGAAGTCAACCATATTCTGAATTATTTTAATTATTATTTTTTTACCTGTGCATCTTCGGGTATGTCATGAACTCCATCCTATTAGAAAAGGAGACAGTCAGTTGTAGTATAAATACTCCTTATAGTGATTCAGTGGAAAAAAGAGGAGAATGGTTATTTTCCTACCTTCATTGCTTTCTTTGCCTTTCCATCAAATTCCCAAGATGATTTTGGTGTTGGGCGTCCCTTGATGACAGCAGGAATCCTAATCTGTGAGCCAGCTTTACAAACCAGACAGTCCTGTGCTCCAATGTCAATGAAAACTTCTGGTTC... | pathogenic | 49,780 |
Located at chromosome 2 position 178604259, 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'] | ATCTTCAGTAAATTAATCAATTTCATAATAAGATCAAAAGAGGAATACATAAACTGAGTAAGTACTAGTACCTTGAATATCAGTGGCAGGGATCTCCCCAGTTGTATCACTTGGTTCAGATTCACCAGCTTCATTGACAGCTTTCACTCTGAATCTGTACTTCCTGAGCTCTTTCAGATTAGGCACCACACATTCACAGGTAGTTATAAGTTTGTCTGGTTCATTTACTCTTTTCCAGTCAGTAGTACCTTCTTCTTGCATTTCTACAATGTATCCTTTGATTGGGCTGCCACCATCTTTGGCTGGAGGTTTCCATCCTA... | ATCTTCAGTAAATTAATCAATTTCATAATAAGATCAAAAGAGGAATACATAAACTGAGTAAGTACTAGTACCTTGAATATCAGTGGCAGGGATCTCCCCAGTTGTATCACTTGGTTCAGATTCACCAGCTTCATTGACAGCTTTCACTCTGAATCTGTACTTCCTGAGCTCTTTCAGATTAGGCACCACACATTCACAGGTAGTTATAAGTTTGTCTGGTTCATTTACTCTTTTCCAGTCAGTAGTACCTTCTTCTTGCATTTCTACAATGTATCCTTTGATTGGGCTGCCACCATCTTTGGCTGGAGGTTTCCATCCTA... | pathogenic | 49,794 |
Considering the genetic mutation at chromosome 2, position 178604293, 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'] | CAAAAGAGGAATACATAAACTGAGTAAGTACTAGTACCTTGAATATCAGTGGCAGGGATCTCCCCAGTTGTATCACTTGGTTCAGATTCACCAGCTTCATTGACAGCTTTCACTCTGAATCTGTACTTCCTGAGCTCTTTCAGATTAGGCACCACACATTCACAGGTAGTTATAAGTTTGTCTGGTTCATTTACTCTTTTCCAGTCAGTAGTACCTTCTTCTTGCATTTCTACAATGTATCCTTTGATTGGGCTGCCACCATCTTTGGCTGGAGGTTTCCATCCTAGTGAGATGCTTGACTTCGTTTTATCTTTAACTTC... | CAAAAGAGGAATACATAAACTGAGTAAGTACTAGTACCTTGAATATCAGTGGCAGGGATCTCCCCAGTTGTATCACTTGGTTCAGATTCACCAGCTTCATTGACAGCTTTCACTCTGAATCTGTACTTCCTGAGCTCTTTCAGATTAGGCACCACACATTCACAGGTAGTTATAAGTTTGTCTGGTTCATTTACTCTTTTCCAGTCAGTAGTACCTTCTTCTTGCATTTCTACAATGTATCCTTTGATTGGGCTGCCACCATCTTTGGCTGGAGGTTTCCATCCTAGTGAGATGCTTGACTTCGTTTTATCTTTAACTTC... | pathogenic | 49,796 |
Clinical significance of chromosome 2, position 178604768, 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'] | TACAGTTGCCTTCTAGAGAAGAGAAATAAAGGAAATGGTCTATTTTCCTTTAGCATTAATGCAAAAACAGAGAAAGCAAACAACTAACTGGGAATAGAAAGACTACTTCCTATCTTGTTAGATTTACATTCTATTTATACATGATTGGTAAAAAACTACTTTACTTTTGAGATCCCTTTGAAGAAATTCTACAATAGCCTTTACTGAAAACATGATTTAAATTTAATTTGCCACAATATGAAAATTTAAAAAGGATTCCATCAATAGCTAGTAAACCTTTGAACACAAACTAATCTTAATGCCCTTTAGGGACAGGATCA... | TACAGTTGCCTTCTAGAGAAGAGAAATAAAGGAAATGGTCTATTTTCCTTTAGCATTAATGCAAAAACAGAGAAAGCAAACAACTAACTGGGAATAGAAAGACTACTTCCTATCTTGTTAGATTTACATTCTATTTATACATGATTGGTAAAAAACTACTTTACTTTTGAGATCCCTTTGAAGAAATTCTACAATAGCCTTTACTGAAAACATGATTTAAATTTAATTTGCCACAATATGAAAATTTAAAAAGGATTCCATCAATAGCTAGTAAACCTTTGAACACAAACTAATCTTAATGCCCTTTAGGGACAGGATCA... | pathogenic | 49,805 |
Variant at chromosome 2, position 178605044, 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'] | CTTTGAACACAAACTAATCTTAATGCCCTTTAGGGACAGGATCAGTGTCTACAATAATCCCATAACAATCCTTTACCTTTCTGAAAGTGCTTTACAATTACAGAAATTCTTTTACTGTACTTGTCTTTTTAATCTTAACTTTTCCCCCTCCAGTGGTTAATATAGATCCTTGCACAAAGCACATGTTCAATACTAGTTTGCAAATGAATGAATAACTACCTCATTATATAGGTATATATGCTCCACATAGCACTTGAGTATTTAAAATTTTCTTTTTAACAAATAATTGAATTTTTCTTCTATAGAGAATCTAATCAGAT... | CTTTGAACACAAACTAATCTTAATGCCCTTTAGGGACAGGATCAGTGTCTACAATAATCCCATAACAATCCTTTACCTTTCTGAAAGTGCTTTACAATTACAGAAATTCTTTTACTGTACTTGTCTTTTTAATCTTAACTTTTCCCCCTCCAGTGGTTAATATAGATCCTTGCACAAAGCACATGTTCAATACTAGTTTGCAAATGAATGAATAACTACCTCATTATATAGGTATATATGCTCCACATAGCACTTGAGTATTTAAAATTTTCTTTTTAACAAATAATTGAATTTTTCTTCTATAGAGAATCTAATCAGAT... | pathogenic | 49,816 |
A genetic variant on chromosome 2, position 178605064, affects the gene TTN. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Primary_familial_dilated_cardiomyopathy', 'TTN-related_myopathy'] | TAATGCCCTTTAGGGACAGGATCAGTGTCTACAATAATCCCATAACAATCCTTTACCTTTCTGAAAGTGCTTTACAATTACAGAAATTCTTTTACTGTACTTGTCTTTTTAATCTTAACTTTTCCCCCTCCAGTGGTTAATATAGATCCTTGCACAAAGCACATGTTCAATACTAGTTTGCAAATGAATGAATAACTACCTCATTATATAGGTATATATGCTCCACATAGCACTTGAGTATTTAAAATTTTCTTTTTAACAAATAATTGAATTTTTCTTCTATAGAGAATCTAATCAGATATGTAGCAAATAGGATGAAT... | TAATGCCCTTTAGGGACAGGATCAGTGTCTACAATAATCCCATAACAATCCTTTACCTTTCTGAAAGTGCTTTACAATTACAGAAATTCTTTTACTGTACTTGTCTTTTTAATCTTAACTTTTCCCCCTCCAGTGGTTAATATAGATCCTTGCACAAAGCACATGTTCAATACTAGTTTGCAAATGAATGAATAACTACCTCATTATATAGGTATATATGCTCCACATAGCACTTGAGTATTTAAAATTTTCTTTTTAACAAATAATTGAATTTTTCTTCTATAGAGAATCTAATCAGATATGTAGCAAATAGGATGAAT... | pathogenic | 49,818 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.