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 |
|---|---|---|---|---|---|
Clinical classification of chromosome 2, position 178530457, gene TTN: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'TTN-related_disorder'] | CATTTGAAGAAATAGAAATCTAAGACAAAGGAAAAAGAAAAGAAATGTTGAAGTTCTTCAGATGTGGAAGACATGGTATTTTAGTTTTTCTTCAATAATATATTCATAATTAAACTTACTGGCAGGTTGTTTTTAAACCATTCGATTTCAGGGGATGGCTCGCCACTGATTTCACAAGTAAAGAGAACATTTTGTCCTTCATTAATATTTTGAGATCTAGGCTGTGAGATGAAGGCTGGAGCATCTGAGAGTTCTTTGCTCAGTGTCAAATCATACTGACACTTGACGATTCCTTCCTTGGTTTTGCTTATGCAGGTGAG... | CATTTGAAGAAATAGAAATCTAAGACAAAGGAAAAAGAAAAGAAATGTTGAAGTTCTTCAGATGTGGAAGACATGGTATTTTAGTTTTTCTTCAATAATATATTCATAATTAAACTTACTGGCAGGTTGTTTTTAAACCATTCGATTTCAGGGGATGGCTCGCCACTGATTTCACAAGTAAAGAGAACATTTTGTCCTTCATTAATATTTTGAGATCTAGGCTGTGAGATGAAGGCTGGAGCATCTGAGAGTTCTTTGCTCAGTGTCAAATCATACTGACACTTGACGATTCCTTCCTTGGTTTTGCTTATGCAGGTGAG... | pathogenic | 47,154 |
Considering the genetic mutation at chromosome 2, position 178530477, 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'] | TAAGACAAAGGAAAAAGAAAAGAAATGTTGAAGTTCTTCAGATGTGGAAGACATGGTATTTTAGTTTTTCTTCAATAATATATTCATAATTAAACTTACTGGCAGGTTGTTTTTAAACCATTCGATTTCAGGGGATGGCTCGCCACTGATTTCACAAGTAAAGAGAACATTTTGTCCTTCATTAATATTTTGAGATCTAGGCTGTGAGATGAAGGCTGGAGCATCTGAGAGTTCTTTGCTCAGTGTCAAATCATACTGACACTTGACGATTCCTTCCTTGGTTTTGCTTATGCAGGTGAGGATTCCTTCATCTCTGTGAC... | TAAGACAAAGGAAAAAGAAAAGAAATGTTGAAGTTCTTCAGATGTGGAAGACATGGTATTTTAGTTTTTCTTCAATAATATATTCATAATTAAACTTACTGGCAGGTTGTTTTTAAACCATTCGATTTCAGGGGATGGCTCGCCACTGATTTCACAAGTAAAGAGAACATTTTGTCCTTCATTAATATTTTGAGATCTAGGCTGTGAGATGAAGGCTGGAGCATCTGAGAGTTCTTTGCTCAGTGTCAAATCATACTGACACTTGACGATTCCTTCCTTGGTTTTGCTTATGCAGGTGAGGATTCCTTCATCTCTGTGAC... | pathogenic | 47,156 |
Chromosome 2, position 178530499, 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', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AAATGTTGAAGTTCTTCAGATGTGGAAGACATGGTATTTTAGTTTTTCTTCAATAATATATTCATAATTAAACTTACTGGCAGGTTGTTTTTAAACCATTCGATTTCAGGGGATGGCTCGCCACTGATTTCACAAGTAAAGAGAACATTTTGTCCTTCATTAATATTTTGAGATCTAGGCTGTGAGATGAAGGCTGGAGCATCTGAGAGTTCTTTGCTCAGTGTCAAATCATACTGACACTTGACGATTCCTTCCTTGGTTTTGCTTATGCAGGTGAGGATTCCTTCATCTCTGTGACTGGCTTGCTTGATGGTTAGGGT... | AAATGTTGAAGTTCTTCAGATGTGGAAGACATGGTATTTTAGTTTTTCTTCAATAATATATTCATAATTAAACTTACTGGCAGGTTGTTTTTAAACCATTCGATTTCAGGGGATGGCTCGCCACTGATTTCACAAGTAAAGAGAACATTTTGTCCTTCATTAATATTTTGAGATCTAGGCTGTGAGATGAAGGCTGGAGCATCTGAGAGTTCTTTGCTCAGTGTCAAATCATACTGACACTTGACGATTCCTTCCTTGGTTTTGCTTATGCAGGTGAGGATTCCTTCATCTCTGTGACTGGCTTGCTTGATGGTTAGGGT... | pathogenic | 47,159 |
Determine if the mutation at chromosome 2, position 178530565 in gene TTN is benign or pathogenic. If pathogenic, what disease(s) is associated? | 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'] | ATTAAACTTACTGGCAGGTTGTTTTTAAACCATTCGATTTCAGGGGATGGCTCGCCACTGATTTCACAAGTAAAGAGAACATTTTGTCCTTCATTAATATTTTGAGATCTAGGCTGTGAGATGAAGGCTGGAGCATCTGAGAGTTCTTTGCTCAGTGTCAAATCATACTGACACTTGACGATTCCTTCCTTGGTTTTGCTTATGCAGGTGAGGATTCCTTCATCTCTGTGACTGGCTTGCTTGATGGTTAGGGTCTGATCGCTGCCTGAGACACCATATCGGTACTCCTCAGAGTTGGTAAGCTCTACGCCATTCAGTAC... | ATTAAACTTACTGGCAGGTTGTTTTTAAACCATTCGATTTCAGGGGATGGCTCGCCACTGATTTCACAAGTAAAGAGAACATTTTGTCCTTCATTAATATTTTGAGATCTAGGCTGTGAGATGAAGGCTGGAGCATCTGAGAGTTCTTTGCTCAGTGTCAAATCATACTGACACTTGACGATTCCTTCCTTGGTTTTGCTTATGCAGGTGAGGATTCCTTCATCTCTGTGACTGGCTTGCTTGATGGTTAGGGTCTGATCGCTGCCTGAGACACCATATCGGTACTCCTCAGAGTTGGTAAGCTCTACGCCATTCAGTAC... | pathogenic | 47,161 |
Variant on chromosome 2, at position 178530595, affecting TTN: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CATTCGATTTCAGGGGATGGCTCGCCACTGATTTCACAAGTAAAGAGAACATTTTGTCCTTCATTAATATTTTGAGATCTAGGCTGTGAGATGAAGGCTGGAGCATCTGAGAGTTCTTTGCTCAGTGTCAAATCATACTGACACTTGACGATTCCTTCCTTGGTTTTGCTTATGCAGGTGAGGATTCCTTCATCTCTGTGACTGGCTTGCTTGATGGTTAGGGTCTGATCGCTGCCTGAGACACCATATCGGTACTCCTCAGAGTTGGTAAGCTCTACGCCATTCAGTACCCATTTCACATCAGTGGCACCAGCAATGTT... | CATTCGATTTCAGGGGATGGCTCGCCACTGATTTCACAAGTAAAGAGAACATTTTGTCCTTCATTAATATTTTGAGATCTAGGCTGTGAGATGAAGGCTGGAGCATCTGAGAGTTCTTTGCTCAGTGTCAAATCATACTGACACTTGACGATTCCTTCCTTGGTTTTGCTTATGCAGGTGAGGATTCCTTCATCTCTGTGACTGGCTTGCTTGATGGTTAGGGTCTGATCGCTGCCTGAGACACCATATCGGTACTCCTCAGAGTTGGTAAGCTCTACGCCATTCAGTACCCATTTCACATCAGTGGCACCAGCAATGTT... | pathogenic | 47,162 |
Is the genetic change at chromosome 2, position 178530599, within gene TTN benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G', 'TTN-related_disorder'] | CGATTTCAGGGGATGGCTCGCCACTGATTTCACAAGTAAAGAGAACATTTTGTCCTTCATTAATATTTTGAGATCTAGGCTGTGAGATGAAGGCTGGAGCATCTGAGAGTTCTTTGCTCAGTGTCAAATCATACTGACACTTGACGATTCCTTCCTTGGTTTTGCTTATGCAGGTGAGGATTCCTTCATCTCTGTGACTGGCTTGCTTGATGGTTAGGGTCTGATCGCTGCCTGAGACACCATATCGGTACTCCTCAGAGTTGGTAAGCTCTACGCCATTCAGTACCCATTTCACATCAGTGGCACCAGCAATGTTGGCT... | CGATTTCAGGGGATGGCTCGCCACTGATTTCACAAGTAAAGAGAACATTTTGTCCTTCATTAATATTTTGAGATCTAGGCTGTGAGATGAAGGCTGGAGCATCTGAGAGTTCTTTGCTCAGTGTCAAATCATACTGACACTTGACGATTCCTTCCTTGGTTTTGCTTATGCAGGTGAGGATTCCTTCATCTCTGTGACTGGCTTGCTTGATGGTTAGGGTCTGATCGCTGCCTGAGACACCATATCGGTACTCCTCAGAGTTGGTAAGCTCTACGCCATTCAGTACCCATTTCACATCAGTGGCACCAGCAATGTTGGCT... | pathogenic | 47,163 |
Variant at chromosome position 178530804, 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'] | CTTGATGGTTAGGGTCTGATCGCTGCCTGAGACACCATATCGGTACTCCTCAGAGTTGGTAAGCTCTACGCCATTCAGTACCCATTTCACATCAGTGGCACCAGCAATGTTGGCTTTTAAAACCAGTCTTTGACCTTCGTTTATGCTCATCTGAGTAGAAAATGCTTTAATCTCAGCATGAGTTCTGACTTCTTCTGATGCCTGTGATGTTTTAGTGATTTCCTCATGGACAATGGATTTTTCCAGGGAGGTTGCTGCTGATTTCTTGACTTCTTCAGAAATCAGAACCTTTGAAGCTTCCTCTTTGAGGGCTAACTTTT... | CTTGATGGTTAGGGTCTGATCGCTGCCTGAGACACCATATCGGTACTCCTCAGAGTTGGTAAGCTCTACGCCATTCAGTACCCATTTCACATCAGTGGCACCAGCAATGTTGGCTTTTAAAACCAGTCTTTGACCTTCGTTTATGCTCATCTGAGTAGAAAATGCTTTAATCTCAGCATGAGTTCTGACTTCTTCTGATGCCTGTGATGTTTTAGTGATTTCCTCATGGACAATGGATTTTTCCAGGGAGGTTGCTGCTGATTTCTTGACTTCTTCAGAAATCAGAACCTTTGAAGCTTCCTCTTTGAGGGCTAACTTTT... | pathogenic | 47,169 |
Mutation at chromosome 2, position 178530823, within TTN: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TCGCTGCCTGAGACACCATATCGGTACTCCTCAGAGTTGGTAAGCTCTACGCCATTCAGTACCCATTTCACATCAGTGGCACCAGCAATGTTGGCTTTTAAAACCAGTCTTTGACCTTCGTTTATGCTCATCTGAGTAGAAAATGCTTTAATCTCAGCATGAGTTCTGACTTCTTCTGATGCCTGTGATGTTTTAGTGATTTCCTCATGGACAATGGATTTTTCCAGGGAGGTTGCTGCTGATTTCTTGACTTCTTCAGAAATCAGAACCTTTGAAGCTTCCTCTTTGAGGGCTAACTTTTCTTGAGATTTTGCCTCTGA... | TCGCTGCCTGAGACACCATATCGGTACTCCTCAGAGTTGGTAAGCTCTACGCCATTCAGTACCCATTTCACATCAGTGGCACCAGCAATGTTGGCTTTTAAAACCAGTCTTTGACCTTCGTTTATGCTCATCTGAGTAGAAAATGCTTTAATCTCAGCATGAGTTCTGACTTCTTCTGATGCCTGTGATGTTTTAGTGATTTCCTCATGGACAATGGATTTTTCCAGGGAGGTTGCTGCTGATTTCTTGACTTCTTCAGAAATCAGAACCTTTGAAGCTTCCTCTTTGAGGGCTAACTTTTCTTGAGATTTTGCCTCTGA... | pathogenic | 47,170 |
Is the genetic change at chromosome 2, position 178530827, within gene TTN benign or pathogenic? Name the disease(s) if pathogenic. | benign | TGCCTGAGACACCATATCGGTACTCCTCAGAGTTGGTAAGCTCTACGCCATTCAGTACCCATTTCACATCAGTGGCACCAGCAATGTTGGCTTTTAAAACCAGTCTTTGACCTTCGTTTATGCTCATCTGAGTAGAAAATGCTTTAATCTCAGCATGAGTTCTGACTTCTTCTGATGCCTGTGATGTTTTAGTGATTTCCTCATGGACAATGGATTTTTCCAGGGAGGTTGCTGCTGATTTCTTGACTTCTTCAGAAATCAGAACCTTTGAAGCTTCCTCTTTGAGGGCTAACTTTTCTTGAGATTTTGCCTCTGACATC... | TGCCTGAGACACCATATCGGTACTCCTCAGAGTTGGTAAGCTCTACGCCATTCAGTACCCATTTCACATCAGTGGCACCAGCAATGTTGGCTTTTAAAACCAGTCTTTGACCTTCGTTTATGCTCATCTGAGTAGAAAATGCTTTAATCTCAGCATGAGTTCTGACTTCTTCTGATGCCTGTGATGTTTTAGTGATTTCCTCATGGACAATGGATTTTTCCAGGGAGGTTGCTGCTGATTTCTTGACTTCTTCAGAAATCAGAACCTTTGAAGCTTCCTCTTTGAGGGCTAACTTTTCTTGAGATTTTGCCTCTGACATC... | benign | 47,173 |
Clinically, how would you classify the variant at chromosome 2, position 178530848, 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', 'Primary_familial_dilated_cardiomyopathy'] | ACTCCTCAGAGTTGGTAAGCTCTACGCCATTCAGTACCCATTTCACATCAGTGGCACCAGCAATGTTGGCTTTTAAAACCAGTCTTTGACCTTCGTTTATGCTCATCTGAGTAGAAAATGCTTTAATCTCAGCATGAGTTCTGACTTCTTCTGATGCCTGTGATGTTTTAGTGATTTCCTCATGGACAATGGATTTTTCCAGGGAGGTTGCTGCTGATTTCTTGACTTCTTCAGAAATCAGAACCTTTGAAGCTTCCTCTTTGAGGGCTAACTTTTCTTGAGATTTTGCCTCTGACATCTTAATTTCTTCAGACCTTAGG... | ACTCCTCAGAGTTGGTAAGCTCTACGCCATTCAGTACCCATTTCACATCAGTGGCACCAGCAATGTTGGCTTTTAAAACCAGTCTTTGACCTTCGTTTATGCTCATCTGAGTAGAAAATGCTTTAATCTCAGCATGAGTTCTGACTTCTTCTGATGCCTGTGATGTTTTAGTGATTTCCTCATGGACAATGGATTTTTCCAGGGAGGTTGCTGCTGATTTCTTGACTTCTTCAGAAATCAGAACCTTTGAAGCTTCCTCTTTGAGGGCTAACTTTTCTTGAGATTTTGCCTCTGACATCTTAATTTCTTCAGACCTTAGG... | pathogenic | 47,179 |
Variant chromosome 2, position 178531008, gene TTN: benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'TTN-related_disorder'] | TGATGTTTTAGTGATTTCCTCATGGACAATGGATTTTTCCAGGGAGGTTGCTGCTGATTTCTTGACTTCTTCAGAAATCAGAACCTTTGAAGCTTCCTCTTTGAGGGCTAACTTTTCTTGAGATTTTGCCTCTGACATCTTAATTTCTTCAGACCTTAGGGCTTTTTGGGAAATTTCCTCTTGGACAACAGCTTTCTTCTGAGGTGTAATTTCAGAAGTCTTTTGTGTAGAGACTTTCTGTGCCTCAGTATCTTTTATAGCTAAAAAAGAAACCTCTGTAAGGCAAACTTAATTAGAAAGAGACCCCCACCTTTTACTCT... | TGATGTTTTAGTGATTTCCTCATGGACAATGGATTTTTCCAGGGAGGTTGCTGCTGATTTCTTGACTTCTTCAGAAATCAGAACCTTTGAAGCTTCCTCTTTGAGGGCTAACTTTTCTTGAGATTTTGCCTCTGACATCTTAATTTCTTCAGACCTTAGGGCTTTTTGGGAAATTTCCTCTTGGACAACAGCTTTCTTCTGAGGTGTAATTTCAGAAGTCTTTTGTGTAGAGACTTTCTGTGCCTCAGTATCTTTTATAGCTAAAAAAGAAACCTCTGTAAGGCAAACTTAATTAGAAAGAGACCCCCACCTTTTACTCT... | pathogenic | 47,184 |
Chromosome 2, position 178531094, gene TTN: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J'] | TTGAAGCTTCCTCTTTGAGGGCTAACTTTTCTTGAGATTTTGCCTCTGACATCTTAATTTCTTCAGACCTTAGGGCTTTTTGGGAAATTTCCTCTTGGACAACAGCTTTCTTCTGAGGTGTAATTTCAGAAGTCTTTTGTGTAGAGACTTTCTGTGCCTCAGTATCTTTTATAGCTAAAAAAGAAACCTCTGTAAGGCAAACTTAATTAGAAAGAGACCCCCACCTTTTACTCTTCTAGATTCTGCGTGTGAAAAACATAAAAAGAAAAAAAGTCAACTTCTTCATGCAATGTAGGTAATACCTAATACTTTCTCAGTTC... | TTGAAGCTTCCTCTTTGAGGGCTAACTTTTCTTGAGATTTTGCCTCTGACATCTTAATTTCTTCAGACCTTAGGGCTTTTTGGGAAATTTCCTCTTGGACAACAGCTTTCTTCTGAGGTGTAATTTCAGAAGTCTTTTGTGTAGAGACTTTCTGTGCCTCAGTATCTTTTATAGCTAAAAAAGAAACCTCTGTAAGGCAAACTTAATTAGAAAGAGACCCCCACCTTTTACTCTTCTAGATTCTGCGTGTGAAAAACATAAAAAGAAAAAAAGTCAACTTCTTCATGCAATGTAGGTAATACCTAATACTTTCTCAGTTC... | pathogenic | 47,189 |
Does the variant impacting TTN on chromosome 2, position 178531192, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | ACAACAGCTTTCTTCTGAGGTGTAATTTCAGAAGTCTTTTGTGTAGAGACTTTCTGTGCCTCAGTATCTTTTATAGCTAAAAAAGAAACCTCTGTAAGGCAAACTTAATTAGAAAGAGACCCCCACCTTTTACTCTTCTAGATTCTGCGTGTGAAAAACATAAAAAGAAAAAAAGTCAACTTCTTCATGCAATGTAGGTAATACCTAATACTTTCTCAGTTCCACTTTTGGAAAATTATCATGTGTGACTTTTGAGATCACTGTAATGATTCCTTAAACTAAACTGAGCCAAAGATGATTCATATGACTTAAGGAAAAAA... | ACAACAGCTTTCTTCTGAGGTGTAATTTCAGAAGTCTTTTGTGTAGAGACTTTCTGTGCCTCAGTATCTTTTATAGCTAAAAAAGAAACCTCTGTAAGGCAAACTTAATTAGAAAGAGACCCCCACCTTTTACTCTTCTAGATTCTGCGTGTGAAAAACATAAAAAGAAAAAAAGTCAACTTCTTCATGCAATGTAGGTAATACCTAATACTTTCTCAGTTCCACTTTTGGAAAATTATCATGTGTGACTTTTGAGATCACTGTAATGATTCCTTAAACTAAACTGAGCCAAAGATGATTCATATGACTTAAGGAAAAAA... | pathogenic | 47,199 |
Variant chromosome 2, position 178531423, gene TTN: benign or pathogenic? 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', 'Primary_dilated_cardiomyopathy', 'Tibial_mu... | AAAATTATCATGTGTGACTTTTGAGATCACTGTAATGATTCCTTAAACTAAACTGAGCCAAAGATGATTCATATGACTTAAGGAAAAAAGTCTTGAAAAGAATAGTCAACGGATTTAGGAGATAAGTGGATTTGGGAGATTTTGAGTAACCAAAACATTAAATTATCTTTCAGAAGATTGAAATGAAAGCAAACTAATTTTAATTGGTAAAATAGAAATAGTTCTTTAATTAACTTTGCACTGCTTTGGAAAATTAGCAACTGTGAAGGTTTAGGCAAGTAGTGCCATTTTGTATATTCACTGACTTTATTCTTAAATAT... | AAAATTATCATGTGTGACTTTTGAGATCACTGTAATGATTCCTTAAACTAAACTGAGCCAAAGATGATTCATATGACTTAAGGAAAAAAGTCTTGAAAAGAATAGTCAACGGATTTAGGAGATAAGTGGATTTGGGAGATTTTGAGTAACCAAAACATTAAATTATCTTTCAGAAGATTGAAATGAAAGCAAACTAATTTTAATTGGTAAAATAGAAATAGTTCTTTAATTAACTTTGCACTGCTTTGGAAAATTAGCAACTGTGAAGGTTTAGGCAAGTAGTGCCATTTTGTATATTCACTGACTTTATTCTTAAATAT... | pathogenic | 47,209 |
Variant at chromosome position 178531453, 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'] | TGTAATGATTCCTTAAACTAAACTGAGCCAAAGATGATTCATATGACTTAAGGAAAAAAGTCTTGAAAAGAATAGTCAACGGATTTAGGAGATAAGTGGATTTGGGAGATTTTGAGTAACCAAAACATTAAATTATCTTTCAGAAGATTGAAATGAAAGCAAACTAATTTTAATTGGTAAAATAGAAATAGTTCTTTAATTAACTTTGCACTGCTTTGGAAAATTAGCAACTGTGAAGGTTTAGGCAAGTAGTGCCATTTTGTATATTCACTGACTTTATTCTTAAATATTCCTGGGAGCAGGGGCTGACACTATGGAAT... | TGTAATGATTCCTTAAACTAAACTGAGCCAAAGATGATTCATATGACTTAAGGAAAAAAGTCTTGAAAAGAATAGTCAACGGATTTAGGAGATAAGTGGATTTGGGAGATTTTGAGTAACCAAAACATTAAATTATCTTTCAGAAGATTGAAATGAAAGCAAACTAATTTTAATTGGTAAAATAGAAATAGTTCTTTAATTAACTTTGCACTGCTTTGGAAAATTAGCAACTGTGAAGGTTTAGGCAAGTAGTGCCATTTTGTATATTCACTGACTTTATTCTTAAATATTCCTGGGAGCAGGGGCTGACACTATGGAAT... | pathogenic | 47,212 |
Located at chromosome 2 position 178531738, the variant affecting gene TTN—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'TTN-related_disorder'] | AATATTCCTGGGAGCAGGGGCTGACACTATGGAATCTTATATAATACCACATATAACTAGGTACTTAATAACTGCTTTTTATGCTCATAGAAAAGCATATGCTAACTTCAAATGTGTGTTTCTGCTTTGGTGTACAAATTGTATTCTGGAATTAGGAAAATAATTTTATTTTAATACTTTCTTGTATGTGTATATAAGGGGGGATGTTTGAAAATATTTCCCTAATATTATCTTCTGAAGAAATGTGGGTAAAAACAAAAGCCAACCTACCTTTTATTGTTAATTTGCAGCTAGAGGACACAGATCCAGCTGAATTTTTT... | AATATTCCTGGGAGCAGGGGCTGACACTATGGAATCTTATATAATACCACATATAACTAGGTACTTAATAACTGCTTTTTATGCTCATAGAAAAGCATATGCTAACTTCAAATGTGTGTTTCTGCTTTGGTGTACAAATTGTATTCTGGAATTAGGAAAATAATTTTATTTTAATACTTTCTTGTATGTGTATATAAGGGGGGATGTTTGAAAATATTTCCCTAATATTATCTTCTGAAGAAATGTGGGTAAAAACAAAAGCCAACCTACCTTTTATTGTTAATTTGCAGCTAGAGGACACAGATCCAGCTGAATTTTTT... | pathogenic | 47,228 |
Mutation at chromosome 2, position 178532215, within TTN: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy', 'TTN-related_myopathy'] | TTTTTTGGGAAGCTGAATTTAGAAGATAAAATATTTTAGAAGATAAAAGAAAGAGACATTTAAGAACTGGTTACCTTTCCATCTTTTGTCCAGATGGCAGTTGGCCGGGGTTCTCCAGTAGCCTTAACTGCAAATTTAGCAACACTGTCTGAAGAAACAGTTGTATCCTGCAACCCAGTAACAATTACTGGTTTTGAGGAAATTGGTTCAGGAGCTTTTGGTTCAGTTTTTCTGGTTACTGTTGACTCAGTGGTTTTCTGATCTGATTTCTTAGTTTCTGATATTTTTGATACCTTCTCATGGATACTCTTAAAGGCTTG... | TTTTTTGGGAAGCTGAATTTAGAAGATAAAATATTTTAGAAGATAAAAGAAAGAGACATTTAAGAACTGGTTACCTTTCCATCTTTTGTCCAGATGGCAGTTGGCCGGGGTTCTCCAGTAGCCTTAACTGCAAATTTAGCAACACTGTCTGAAGAAACAGTTGTATCCTGCAACCCAGTAACAATTACTGGTTTTGAGGAAATTGGTTCAGGAGCTTTTGGTTCAGTTTTTCTGGTTACTGTTGACTCAGTGGTTTTCTGATCTGATTTCTTAGTTTCTGATATTTTTGATACCTTCTCATGGATACTCTTAAAGGCTTG... | pathogenic | 47,247 |
Gene TTN variant at chromosome 2, position 178532440—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'] | GTTTTTCTGGTTACTGTTGACTCAGTGGTTTTCTGATCTGATTTCTTAGTTTCTGATATTTTTGATACCTTCTCATGGATACTCTTAAAGGCTTGCCCCATAAATTGTAAGTTGGTTTTAGACGTTCCACCTTCACCAGAAATCTCACAAACATATTCTCCTTGATCAGATTCAGTGAGGTTATTGATTTTGAGCTCATAGGTACCATCTGCTGAATAATGAAACTGGAAATGCCCATTTTCCTTCAGTTTCTTGCCATCTTTATACCAGGTGACCTCTTTTGCCCTTAATACACTGCTTTCAACCACACAGGTCAGTTT... | GTTTTTCTGGTTACTGTTGACTCAGTGGTTTTCTGATCTGATTTCTTAGTTTCTGATATTTTTGATACCTTCTCATGGATACTCTTAAAGGCTTGCCCCATAAATTGTAAGTTGGTTTTAGACGTTCCACCTTCACCAGAAATCTCACAAACATATTCTCCTTGATCAGATTCAGTGAGGTTATTGATTTTGAGCTCATAGGTACCATCTGCTGAATAATGAAACTGGAAATGCCCATTTTCCTTCAGTTTCTTGCCATCTTTATACCAGGTGACCTCTTTTGCCCTTAATACACTGCTTTCAACCACACAGGTCAGTTT... | pathogenic | 47,256 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 178532527, gene TTN: what disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype'] | AAGGCTTGCCCCATAAATTGTAAGTTGGTTTTAGACGTTCCACCTTCACCAGAAATCTCACAAACATATTCTCCTTGATCAGATTCAGTGAGGTTATTGATTTTGAGCTCATAGGTACCATCTGCTGAATAATGAAACTGGAAATGCCCATTTTCCTTCAGTTTCTTGCCATCTTTATACCAGGTGACCTCTTTTGCCCTTAATACACTGCTTTCAACCACACAGGTCAGTTTTGCAATCTCTTTAGAAGCTTCTGCTTTCAGGAACTGAGTAATCTTTGGTGGGGCAGAGACTGGGAGGTGCTGAACTTTCTCTGTTGG... | AAGGCTTGCCCCATAAATTGTAAGTTGGTTTTAGACGTTCCACCTTCACCAGAAATCTCACAAACATATTCTCCTTGATCAGATTCAGTGAGGTTATTGATTTTGAGCTCATAGGTACCATCTGCTGAATAATGAAACTGGAAATGCCCATTTTCCTTCAGTTTCTTGCCATCTTTATACCAGGTGACCTCTTTTGCCCTTAATACACTGCTTTCAACCACACAGGTCAGTTTTGCAATCTCTTTAGAAGCTTCTGCTTTCAGGAACTGAGTAATCTTTGGTGGGGCAGAGACTGGGAGGTGCTGAACTTTCTCTGTTGG... | pathogenic | 47,258 |
Evaluate the clinical significance of the mutation at chromosome 2, position 178532545 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'] | TGTAAGTTGGTTTTAGACGTTCCACCTTCACCAGAAATCTCACAAACATATTCTCCTTGATCAGATTCAGTGAGGTTATTGATTTTGAGCTCATAGGTACCATCTGCTGAATAATGAAACTGGAAATGCCCATTTTCCTTCAGTTTCTTGCCATCTTTATACCAGGTGACCTCTTTTGCCCTTAATACACTGCTTTCAACCACACAGGTCAGTTTTGCAATCTCTTTAGAAGCTTCTGCTTTCAGGAACTGAGTAATCTTTGGTGGGGCAGAGACTGGGAGGTGCTGAACTTTCTCTGTTGGTGTTGGTTTTGTCTCTGT... | TGTAAGTTGGTTTTAGACGTTCCACCTTCACCAGAAATCTCACAAACATATTCTCCTTGATCAGATTCAGTGAGGTTATTGATTTTGAGCTCATAGGTACCATCTGCTGAATAATGAAACTGGAAATGCCCATTTTCCTTCAGTTTCTTGCCATCTTTATACCAGGTGACCTCTTTTGCCCTTAATACACTGCTTTCAACCACACAGGTCAGTTTTGCAATCTCTTTAGAAGCTTCTGCTTTCAGGAACTGAGTAATCTTTGGTGGGGCAGAGACTGGGAGGTGCTGAACTTTCTCTGTTGGTGTTGGTTTTGTCTCTGT... | pathogenic | 47,259 |
Chromosome 2, position 178532583, 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'] | CTCACAAACATATTCTCCTTGATCAGATTCAGTGAGGTTATTGATTTTGAGCTCATAGGTACCATCTGCTGAATAATGAAACTGGAAATGCCCATTTTCCTTCAGTTTCTTGCCATCTTTATACCAGGTGACCTCTTTTGCCCTTAATACACTGCTTTCAACCACACAGGTCAGTTTTGCAATCTCTTTAGAAGCTTCTGCTTTCAGGAACTGAGTAATCTTTGGTGGGGCAGAGACTGGGAGGTGCTGAACTTTCTCTGTTGGTGTTGGTTTTGTCTCTGTGGGTGATACGGCTTTCGGGTGAGAAGGTTCTGGAGATT... | CTCACAAACATATTCTCCTTGATCAGATTCAGTGAGGTTATTGATTTTGAGCTCATAGGTACCATCTGCTGAATAATGAAACTGGAAATGCCCATTTTCCTTCAGTTTCTTGCCATCTTTATACCAGGTGACCTCTTTTGCCCTTAATACACTGCTTTCAACCACACAGGTCAGTTTTGCAATCTCTTTAGAAGCTTCTGCTTTCAGGAACTGAGTAATCTTTGGTGGGGCAGAGACTGGGAGGTGCTGAACTTTCTCTGTTGGTGTTGGTTTTGTCTCTGTGGGTGATACGGCTTTCGGGTGAGAAGGTTCTGGAGATT... | pathogenic | 47,261 |
Is the variant located on chromosome 2 at position 178532765, 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'] | TCTCTTTAGAAGCTTCTGCTTTCAGGAACTGAGTAATCTTTGGTGGGGCAGAGACTGGGAGGTGCTGAACTTTCTCTGTTGGTGTTGGTTTTGTCTCTGTGGGTGATACGGCTTTCGGGTGAGAAGGTTCTGGAGATTTCACTCGTTTTGGAGACTTAACTGCTTCTGGGGATTTCACCCGAGGCTCTGGGGATTTGACTCTTGGTGGTGATGTCACAGCCTTTTCAGTTACCCTGGCCTTTTGAATAGTCAGAGTGAACTCTGCTTCTTGTTTCCCTTCACTGTTTTCTACCACCACGCTGTAATTGCCCTCATCGGAA... | TCTCTTTAGAAGCTTCTGCTTTCAGGAACTGAGTAATCTTTGGTGGGGCAGAGACTGGGAGGTGCTGAACTTTCTCTGTTGGTGTTGGTTTTGTCTCTGTGGGTGATACGGCTTTCGGGTGAGAAGGTTCTGGAGATTTCACTCGTTTTGGAGACTTAACTGCTTCTGGGGATTTCACCCGAGGCTCTGGGGATTTGACTCTTGGTGGTGATGTCACAGCCTTTTCAGTTACCCTGGCCTTTTGAATAGTCAGAGTGAACTCTGCTTCTTGTTTCCCTTCACTGTTTTCTACCACCACGCTGTAATTGCCCTCATCGGAA... | pathogenic | 47,265 |
Benign or pathogenic: chromosome 2, position 178532800, gene TTN variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | ATCTTTGGTGGGGCAGAGACTGGGAGGTGCTGAACTTTCTCTGTTGGTGTTGGTTTTGTCTCTGTGGGTGATACGGCTTTCGGGTGAGAAGGTTCTGGAGATTTCACTCGTTTTGGAGACTTAACTGCTTCTGGGGATTTCACCCGAGGCTCTGGGGATTTGACTCTTGGTGGTGATGTCACAGCCTTTTCAGTTACCCTGGCCTTTTGAATAGTCAGAGTGAACTCTGCTTCTTGTTTCCCTTCACTGTTTTCTACCACCACGCTGTAATTGCCCTCATCGGAAGCCTGGACTGAAGAGATCTCAAAGGTTGATTTGTA... | ATCTTTGGTGGGGCAGAGACTGGGAGGTGCTGAACTTTCTCTGTTGGTGTTGGTTTTGTCTCTGTGGGTGATACGGCTTTCGGGTGAGAAGGTTCTGGAGATTTCACTCGTTTTGGAGACTTAACTGCTTCTGGGGATTTCACCCGAGGCTCTGGGGATTTGACTCTTGGTGGTGATGTCACAGCCTTTTCAGTTACCCTGGCCTTTTGAATAGTCAGAGTGAACTCTGCTTCTTGTTTCCCTTCACTGTTTTCTACCACCACGCTGTAATTGCCCTCATCGGAAGCCTGGACTGAAGAGATCTCAAAGGTTGATTTGTA... | pathogenic | 47,267 |
Variant at chromosome 2, position 178532855, gene TTN: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TTGTCTCTGTGGGTGATACGGCTTTCGGGTGAGAAGGTTCTGGAGATTTCACTCGTTTTGGAGACTTAACTGCTTCTGGGGATTTCACCCGAGGCTCTGGGGATTTGACTCTTGGTGGTGATGTCACAGCCTTTTCAGTTACCCTGGCCTTTTGAATAGTCAGAGTGAACTCTGCTTCTTGTTTCCCTTCACTGTTTTCTACCACCACGCTGTAATTGCCCTCATCGGAAGCCTGGACTGAAGAGATCTCAAAGGTTGATTTGTACTTTGTGGTGGTCACTTGGTGGCGGGCAGAAGTACTTAGCACTTGTCCTTTACGC... | TTGTCTCTGTGGGTGATACGGCTTTCGGGTGAGAAGGTTCTGGAGATTTCACTCGTTTTGGAGACTTAACTGCTTCTGGGGATTTCACCCGAGGCTCTGGGGATTTGACTCTTGGTGGTGATGTCACAGCCTTTTCAGTTACCCTGGCCTTTTGAATAGTCAGAGTGAACTCTGCTTCTTGTTTCCCTTCACTGTTTTCTACCACCACGCTGTAATTGCCCTCATCGGAAGCCTGGACTGAAGAGATCTCAAAGGTTGATTTGTACTTTGTGGTGGTCACTTGGTGGCGGGCAGAAGTACTTAGCACTTGTCCTTTACGC... | pathogenic | 47,272 |
The mutation in gene TTN at chromosome 2, position 178533254—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Decreased_patellar_reflex', 'Dilated_cardiomyopathy_1G', 'Hypertrophic_cardiomyopathy_9', 'Left_ventricular_noncompaction_cardiomyopathy', 'Limb-girdle_muscular_dystrophy', 'Muscular_dystrophy', 'Primary_dilated_card... | ACCGTGGCTTTGTTAGAATTCTTGCTGCCAAAGTCGTCTTGATCTTTCTGGTTGTGGATTTTTCTTCCAGTGACTTTTCTTCTAATGCAGCACTTTTCATTTCTGCAGATGCAGAGTGTTCATATGAGGAGAGACTTTCCCTTGTCTCCGTCATCTGTGATTTCACTTCCCTGACAGAAGACGAAGCTTCCATCTCAGATGTTTTCTTAAATGATGAAACAGCATACGCCTCTGTTCTTGTCAGCTCAGGGAAAACAGATCTGGGGACCTCTTCATCTCTGCGTTGGGAAGCATAGGTGGTATAATCCCCTCCTGTCACG... | ACCGTGGCTTTGTTAGAATTCTTGCTGCCAAAGTCGTCTTGATCTTTCTGGTTGTGGATTTTTCTTCCAGTGACTTTTCTTCTAATGCAGCACTTTTCATTTCTGCAGATGCAGAGTGTTCATATGAGGAGAGACTTTCCCTTGTCTCCGTCATCTGTGATTTCACTTCCCTGACAGAAGACGAAGCTTCCATCTCAGATGTTTTCTTAAATGATGAAACAGCATACGCCTCTGTTCTTGTCAGCTCAGGGAAAACAGATCTGGGGACCTCTTCATCTCTGCGTTGGGAAGCATAGGTGGTATAATCCCCTCCTGTCACG... | pathogenic | 47,292 |
Is the genetic mutation found on chromosome 2 at position 178533553, 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'] | GTATAATCCCCTCCTGTCACGTCCAACGTTGCATAGTCAGAAGCTTCGCCCTTGTAGTTGGTGCACACAGCACGGTAGGTTCCACTGTCATCAGTATGACAGTCCAGAATTTCCAGGGTGAGGACTCCACTCGTGTTGGTGTAATGAATCTTACTGCTTTCTTGGAGTTCCACACCATTGTGGTACCATTTAACCTCGGCAGTTGGCTTAGACTGAACATTTAAAATAAAACGTGTATTTTGGCCACATGGTACCCTGTGCGAGCGCATTCTCAGTGTGATTCGAGGGGCATGGTCCAGTGTGAAAGGCTGCTGACTCAA... | GTATAATCCCCTCCTGTCACGTCCAACGTTGCATAGTCAGAAGCTTCGCCCTTGTAGTTGGTGCACACAGCACGGTAGGTTCCACTGTCATCAGTATGACAGTCCAGAATTTCCAGGGTGAGGACTCCACTCGTGTTGGTGTAATGAATCTTACTGCTTTCTTGGAGTTCCACACCATTGTGGTACCATTTAACCTCGGCAGTTGGCTTAGACTGAACATTTAAAATAAAACGTGTATTTTGGCCACATGGTACCCTGTGCGAGCGCATTCTCAGTGTGATTCGAGGGGCATGGTCCAGTGTGAAAGGCTGCTGACTCAA... | pathogenic | 47,304 |
A genetic alteration at chromosome 2, position 178533571, in gene TTN—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G'] | ACGTCCAACGTTGCATAGTCAGAAGCTTCGCCCTTGTAGTTGGTGCACACAGCACGGTAGGTTCCACTGTCATCAGTATGACAGTCCAGAATTTCCAGGGTGAGGACTCCACTCGTGTTGGTGTAATGAATCTTACTGCTTTCTTGGAGTTCCACACCATTGTGGTACCATTTAACCTCGGCAGTTGGCTTAGACTGAACATTTAAAATAAAACGTGTATTTTGGCCACATGGTACCCTGTGCGAGCGCATTCTCAGTGTGATTCGAGGGGCATGGTCCAGTGTGAAAGGCTGCTGACTCAAAACTTCATACTTCCTTTC... | ACGTCCAACGTTGCATAGTCAGAAGCTTCGCCCTTGTAGTTGGTGCACACAGCACGGTAGGTTCCACTGTCATCAGTATGACAGTCCAGAATTTCCAGGGTGAGGACTCCACTCGTGTTGGTGTAATGAATCTTACTGCTTTCTTGGAGTTCCACACCATTGTGGTACCATTTAACCTCGGCAGTTGGCTTAGACTGAACATTTAAAATAAAACGTGTATTTTGGCCACATGGTACCCTGTGCGAGCGCATTCTCAGTGTGATTCGAGGGGCATGGTCCAGTGTGAAAGGCTGCTGACTCAAAACTTCATACTTCCTTTC... | pathogenic | 47,305 |
Does the chromosome 2 mutation at position 178533865 within gene TTN classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TGACTCAAAACTTCATACTTCCTTTCTGATGTCTTCTGAGTTTTTAAAGCAGCTTTCATGGACTCATACCTGGAAAAGATATCAAATCTTGCAGACCTCTCAAATCTCGAGAGTGATCTCTCACTAGACACAGGGCTGGGGGATCGTGGGCGAGTTCTCTCTGGAGTAGGTGACCTTCTTTCTGTGTCATCTTCGTATTCCTCAGCCGGTTGTGGACGTGACCGGATCAGCTCAGACACTGGCCTCATTAACTCAATATAAGTTGGAGACAGGGAGCGCCGTCGTCTCAGTAGTCTAGACGCAGATGAGGATGATTCTCT... | TGACTCAAAACTTCATACTTCCTTTCTGATGTCTTCTGAGTTTTTAAAGCAGCTTTCATGGACTCATACCTGGAAAAGATATCAAATCTTGCAGACCTCTCAAATCTCGAGAGTGATCTCTCACTAGACACAGGGCTGGGGGATCGTGGGCGAGTTCTCTCTGGAGTAGGTGACCTTCTTTCTGTGTCATCTTCGTATTCCTCAGCCGGTTGTGGACGTGACCGGATCAGCTCAGACACTGGCCTCATTAACTCAATATAAGTTGGAGACAGGGAGCGCCGTCGTCTCAGTAGTCTAGACGCAGATGAGGATGATTCTCT... | pathogenic | 47,313 |
Considering the genetic mutation at chromosome 2, position 178534344, 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'] | CAACTCTTCATCCTCCCTCTCAGCCATGATTCTTTGCCGTTGCTTTGGCTGTCTGTACGCAGCCTGGGCATGCCGTTCCCTCAGTTCTGCATAACTTGTACTAGCTTCAGCCTTCGTTGGGATGTGATAGGTTGAATACCTGAAGTCTTTTCTTGTTTCCTCCACCTTGACATGAGCTTGTGGTGAAGAGTAACGTAGGCTAGAAAGCTCAAAGTGTGGAGGGCTTCGACTTGGGGGTGAAGCTGAAAAACCTAACTCAAGCTCTTCTTCAAGACGCAGCCTCTCTTCCTCTGTTCTTTTCATTGCTAAGTAGTCATCAA... | CAACTCTTCATCCTCCCTCTCAGCCATGATTCTTTGCCGTTGCTTTGGCTGTCTGTACGCAGCCTGGGCATGCCGTTCCCTCAGTTCTGCATAACTTGTACTAGCTTCAGCCTTCGTTGGGATGTGATAGGTTGAATACCTGAAGTCTTTTCTTGTTTCCTCCACCTTGACATGAGCTTGTGGTGAAGAGTAACGTAGGCTAGAAAGCTCAAAGTGTGGAGGGCTTCGACTTGGGGGTGAAGCTGAAAAACCTAACTCAAGCTCTTCTTCAAGACGCAGCCTCTCTTCCTCTGTTCTTTTCATTGCTAAGTAGTCATCAA... | pathogenic | 47,331 |
Considering the variant on chromosome 2, location 178534377, 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', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TTGCCGTTGCTTTGGCTGTCTGTACGCAGCCTGGGCATGCCGTTCCCTCAGTTCTGCATAACTTGTACTAGCTTCAGCCTTCGTTGGGATGTGATAGGTTGAATACCTGAAGTCTTTTCTTGTTTCCTCCACCTTGACATGAGCTTGTGGTGAAGAGTAACGTAGGCTAGAAAGCTCAAAGTGTGGAGGGCTTCGACTTGGGGGTGAAGCTGAAAAACCTAACTCAAGCTCTTCTTCAAGACGCAGCCTCTCTTCCTCTGTTCTTTTCATTGCTAAGTAGTCATCAATGGGGAGGAGTAATTCTTCATCAGAGATGTCCC... | TTGCCGTTGCTTTGGCTGTCTGTACGCAGCCTGGGCATGCCGTTCCCTCAGTTCTGCATAACTTGTACTAGCTTCAGCCTTCGTTGGGATGTGATAGGTTGAATACCTGAAGTCTTTTCTTGTTTCCTCCACCTTGACATGAGCTTGTGGTGAAGAGTAACGTAGGCTAGAAAGCTCAAAGTGTGGAGGGCTTCGACTTGGGGGTGAAGCTGAAAAACCTAACTCAAGCTCTTCTTCAAGACGCAGCCTCTCTTCCTCTGTTCTTTTCATTGCTAAGTAGTCATCAATGGGGAGGAGTAATTCTTCATCAGAGATGTCCC... | pathogenic | 47,333 |
Mutation at chromosome 2, position 178534557, within TTN: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | GTGTGGAGGGCTTCGACTTGGGGGTGAAGCTGAAAAACCTAACTCAAGCTCTTCTTCAAGACGCAGCCTCTCTTCCTCTGTTCTTTTCATTGCTAAGTAGTCATCAATGGGGAGGAGTAATTCTTCATCAGAGATGTCCCCAAGAGAACGTCTTCTAGGTCGGTAGTAAAAGTCATAATCAGGAGAAGGTGTACGCCGGCGGGCTGGTCTCACTATCTCAAGATCATCTTGGGACAGTTTAGGAATACGCCATTTAGGTCTGTATTGATCTGTAATGCGTGGAAGAGGCATCACATAGAACTGTTCCCATCTTGAAAGGC... | GTGTGGAGGGCTTCGACTTGGGGGTGAAGCTGAAAAACCTAACTCAAGCTCTTCTTCAAGACGCAGCCTCTCTTCCTCTGTTCTTTTCATTGCTAAGTAGTCATCAATGGGGAGGAGTAATTCTTCATCAGAGATGTCCCCAAGAGAACGTCTTCTAGGTCGGTAGTAAAAGTCATAATCAGGAGAAGGTGTACGCCGGCGGGCTGGTCTCACTATCTCAAGATCATCTTGGGACAGTTTAGGAATACGCCATTTAGGTCTGTATTGATCTGTAATGCGTGGAAGAGGCATCACATAGAACTGTTCCCATCTTGAAAGGC... | pathogenic | 47,345 |
Chromosome 2, position 178534621, 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'] | AGCCTCTCTTCCTCTGTTCTTTTCATTGCTAAGTAGTCATCAATGGGGAGGAGTAATTCTTCATCAGAGATGTCCCCAAGAGAACGTCTTCTAGGTCGGTAGTAAAAGTCATAATCAGGAGAAGGTGTACGCCGGCGGGCTGGTCTCACTATCTCAAGATCATCTTGGGACAGTTTAGGAATACGCCATTTAGGTCTGTATTGATCTGTAATGCGTGGAAGAGGCATCACATAGAACTGTTCCCATCTTGAAAGGCGGATGCGCTTGGGTCGTTTCTGTACAACTCTGTCAAGTTTCCCAGGCATTTCATACTGATCACG... | AGCCTCTCTTCCTCTGTTCTTTTCATTGCTAAGTAGTCATCAATGGGGAGGAGTAATTCTTCATCAGAGATGTCCCCAAGAGAACGTCTTCTAGGTCGGTAGTAAAAGTCATAATCAGGAGAAGGTGTACGCCGGCGGGCTGGTCTCACTATCTCAAGATCATCTTGGGACAGTTTAGGAATACGCCATTTAGGTCTGTATTGATCTGTAATGCGTGGAAGAGGCATCACATAGAACTGTTCCCATCTTGAAAGGCGGATGCGCTTGGGTCGTTTCTGTACAACTCTGTCAAGTTTCCCAGGCATTTCATACTGATCACG... | pathogenic | 47,348 |
Gene TTN variant at chromosome position 178534825 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | TCTGTAATGCGTGGAAGAGGCATCACATAGAACTGTTCCCATCTTGAAAGGCGGATGCGCTTGGGTCGTTTCTGTACAACTCTGTCAAGTTTCCCAGGCATTTCATACTGATCACGTATCTTTTTATACCACTTCATGTCAGACATGGGCACGAACTGCTTGATGCGTTGGTCTTCTTCTATGGTAGTCTGCTTATACTTGCGTGGCTCTGGTACATCATAAGGCATCCGGAGTTTTCTCTCCTCCTTCTTTTCTTCTATCTCAAGTCTGAATTCCCCTTTTACAGTCTTGGTGCTTACAGCCGGTTTATAAAGGACAGC... | TCTGTAATGCGTGGAAGAGGCATCACATAGAACTGTTCCCATCTTGAAAGGCGGATGCGCTTGGGTCGTTTCTGTACAACTCTGTCAAGTTTCCCAGGCATTTCATACTGATCACGTATCTTTTTATACCACTTCATGTCAGACATGGGCACGAACTGCTTGATGCGTTGGTCTTCTTCTATGGTAGTCTGCTTATACTTGCGTGGCTCTGGTACATCATAAGGCATCCGGAGTTTTCTCTCCTCCTTCTTTTCTTCTATCTCAAGTCTGAATTCCCCTTTTACAGTCTTGGTGCTTACAGCCGGTTTATAAAGGACAGC... | pathogenic | 47,356 |
Variant on chromosome 2, at position 178535516, affecting TTN: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | CAAAGCAGACACTTTGGCCTTCTTGGCATTCTGCATTTGCCAGTAACCTTTTGAACATGGGTCTTAAGGTACTATCTGTTGGAGGTGGGTGTAGGGTTACTGTCAGCTTTGCTTTACAGCTGTCTTCACCATATTTGTTCCTTGCCACAACAGTATATTCAGCGTCATCATCTGTAGTGACACTGTTGATTGTTAATTGGTAAAGACCCTTGTCTGACTCAAATGTGTACTTCTTGTCATTGTCACCTGGTTTGATTTTCTGACCTGATTTATACCATGTTACATGAGGCTCTGGGTGGACAGTTATAGTTACTCCAAAC... | CAAAGCAGACACTTTGGCCTTCTTGGCATTCTGCATTTGCCAGTAACCTTTTGAACATGGGTCTTAAGGTACTATCTGTTGGAGGTGGGTGTAGGGTTACTGTCAGCTTTGCTTTACAGCTGTCTTCACCATATTTGTTCCTTGCCACAACAGTATATTCAGCGTCATCATCTGTAGTGACACTGTTGATTGTTAATTGGTAAAGACCCTTGTCTGACTCAAATGTGTACTTCTTGTCATTGTCACCTGGTTTGATTTTCTGACCTGATTTATACCATGTTACATGAGGCTCTGGGTGGACAGTTATAGTTACTCCAAAC... | pathogenic | 47,392 |
Regarding the variant found on chromosome 2 at position 178535517 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'] | AAAGCAGACACTTTGGCCTTCTTGGCATTCTGCATTTGCCAGTAACCTTTTGAACATGGGTCTTAAGGTACTATCTGTTGGAGGTGGGTGTAGGGTTACTGTCAGCTTTGCTTTACAGCTGTCTTCACCATATTTGTTCCTTGCCACAACAGTATATTCAGCGTCATCATCTGTAGTGACACTGTTGATTGTTAATTGGTAAAGACCCTTGTCTGACTCAAATGTGTACTTCTTGTCATTGTCACCTGGTTTGATTTTCTGACCTGATTTATACCATGTTACATGAGGCTCTGGGTGGACAGTTATAGTTACTCCAAACC... | AAAGCAGACACTTTGGCCTTCTTGGCATTCTGCATTTGCCAGTAACCTTTTGAACATGGGTCTTAAGGTACTATCTGTTGGAGGTGGGTGTAGGGTTACTGTCAGCTTTGCTTTACAGCTGTCTTCACCATATTTGTTCCTTGCCACAACAGTATATTCAGCGTCATCATCTGTAGTGACACTGTTGATTGTTAATTGGTAAAGACCCTTGTCTGACTCAAATGTGTACTTCTTGTCATTGTCACCTGGTTTGATTTTCTGACCTGATTTATACCATGTTACATGAGGCTCTGGGTGGACAGTTATAGTTACTCCAAACC... | pathogenic | 47,393 |
Does the genetic variant at chromosome 2, position 178535823, impacting gene TTN, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'TTN-related_disorder'] | AGTTACTCCAAACCGGACATTTTCACCTACATAAGCTGTCTTATTATAGAGAGGCAGGGTAAATTCTGGTGGCCTTTCCAGGAGTCTCATTGTGTCTGTTCTGCGCTTAATTTTCTTCATGGTTCTACGGCAGTAATAGTCATAGACTTCTCTCACACCTTTAACAAATAGCTCTGCATAAGAACTGTCTTCACCATAGTCATTGACTACTTTGCATCTGTAGGTACCATCATCTAATTTGGTAATGTCTTTGACATAGAGGATGGCCACTCCATCTTCGTAGGTGATTTCGTATTTCTCACTGTTCTCCAGCTGTCGGA... | AGTTACTCCAAACCGGACATTTTCACCTACATAAGCTGTCTTATTATAGAGAGGCAGGGTAAATTCTGGTGGCCTTTCCAGGAGTCTCATTGTGTCTGTTCTGCGCTTAATTTTCTTCATGGTTCTACGGCAGTAATAGTCATAGACTTCTCTCACACCTTTAACAAATAGCTCTGCATAAGAACTGTCTTCACCATAGTCATTGACTACTTTGCATCTGTAGGTACCATCATCTAATTTGGTAATGTCTTTGACATAGAGGATGGCCACTCCATCTTCGTAGGTGATTTCGTATTTCTCACTGTTCTCCAGCTGTCGGA... | pathogenic | 47,402 |
A genetic alteration at chromosome 2, position 178535858, in gene TTN—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CTGTCTTATTATAGAGAGGCAGGGTAAATTCTGGTGGCCTTTCCAGGAGTCTCATTGTGTCTGTTCTGCGCTTAATTTTCTTCATGGTTCTACGGCAGTAATAGTCATAGACTTCTCTCACACCTTTAACAAATAGCTCTGCATAAGAACTGTCTTCACCATAGTCATTGACTACTTTGCATCTGTAGGTACCATCATCTAATTTGGTAATGTCTTTGACATAGAGGATGGCCACTCCATCTTCGTAGGTGATTTCGTATTTCTCACTGTTCTCCAGCTGTCGGACGCCAAAGTACCAAGTCACTTGGGTAGACTGATCA... | CTGTCTTATTATAGAGAGGCAGGGTAAATTCTGGTGGCCTTTCCAGGAGTCTCATTGTGTCTGTTCTGCGCTTAATTTTCTTCATGGTTCTACGGCAGTAATAGTCATAGACTTCTCTCACACCTTTAACAAATAGCTCTGCATAAGAACTGTCTTCACCATAGTCATTGACTACTTTGCATCTGTAGGTACCATCATCTAATTTGGTAATGTCTTTGACATAGAGGATGGCCACTCCATCTTCGTAGGTGATTTCGTATTTCTCACTGTTCTCCAGCTGTCGGACGCCAAAGTACCAAGTCACTTGGGTAGACTGATCA... | benign | 47,407 |
Is the genetic change at chromosome 2, position 178535858, within gene TTN benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTGTCTTATTATAGAGAGGCAGGGTAAATTCTGGTGGCCTTTCCAGGAGTCTCATTGTGTCTGTTCTGCGCTTAATTTTCTTCATGGTTCTACGGCAGTAATAGTCATAGACTTCTCTCACACCTTTAACAAATAGCTCTGCATAAGAACTGTCTTCACCATAGTCATTGACTACTTTGCATCTGTAGGTACCATCATCTAATTTGGTAATGTCTTTGACATAGAGGATGGCCACTCCATCTTCGTAGGTGATTTCGTATTTCTCACTGTTCTCCAGCTGTCGGACGCCAAAGTACCAAGTCACTTGGGTAGACTGATCA... | CTGTCTTATTATAGAGAGGCAGGGTAAATTCTGGTGGCCTTTCCAGGAGTCTCATTGTGTCTGTTCTGCGCTTAATTTTCTTCATGGTTCTACGGCAGTAATAGTCATAGACTTCTCTCACACCTTTAACAAATAGCTCTGCATAAGAACTGTCTTCACCATAGTCATTGACTACTTTGCATCTGTAGGTACCATCATCTAATTTGGTAATGTCTTTGACATAGAGGATGGCCACTCCATCTTCGTAGGTGATTTCGTATTTCTCACTGTTCTCCAGCTGTCGGACGCCAAAGTACCAAGTCACTTGGGTAGACTGATCA... | benign | 47,408 |
Does the genetic variant at chromosome 2, position 178536300, impacting gene TTN, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CTTCTGAGATCGAATTGCACCACCACAGGAGATCCGGGCTGCTGACACAACCATGTTGAGGTCTTTCTTGATCAGGGTGTGGTAATAACGCCGGTGTTTTAATGTTCTGATAACTTTAGTACTGACTCTTTCTATCTTCTGCTTCAACCATGGGTGCTGGAGAGCCTCCGATGCTGTCATGCGAGATTTCCTCTCTTTCACTAACAACCGGTCAACAAAATCCATGGCTTCAATGCTAATCTCTTTGAATGCTTCCTCATCGAAAGTATATTCAGCATTCATGATATTCTCAATGATCTGTTGGTTAGTTTCAGCCAGGA... | CTTCTGAGATCGAATTGCACCACCACAGGAGATCCGGGCTGCTGACACAACCATGTTGAGGTCTTTCTTGATCAGGGTGTGGTAATAACGCCGGTGTTTTAATGTTCTGATAACTTTAGTACTGACTCTTTCTATCTTCTGCTTCAACCATGGGTGCTGGAGAGCCTCCGATGCTGTCATGCGAGATTTCCTCTCTTTCACTAACAACCGGTCAACAAAATCCATGGCTTCAATGCTAATCTCTTTGAATGCTTCCTCATCGAAAGTATATTCAGCATTCATGATATTCTCAATGATCTGTTGGTTAGTTTCAGCCAGGA... | pathogenic | 47,420 |
Does the variant on chromosome 2 at location 178536584 affecting gene TTN have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TATTCTCAATGATCTGTTGGTTAGTTTCAGCCAGGAATGGGTTGATACCACTCAATAGCACATATACCAGTGTTCCAAGTGACCACATGTCTGTGGCTGTGCTGACAACATCATGCTGGTGGACTTCAGGTGCATAGTATTCTGGGGCAGTGAATAGAAGCCTGAAGTTGTCCCCTGGTTTCAGCTGACGGGCTTGACCAAATTCTATGATTTTAATGGTAGAGCTTCTTCTGGTTTGGTAAATGATATTTTCTGGTCTAATGTCAAAGTGTCCAATATTATGACTGTGTAAAAACTGAAGTGCTTCACAGACCTGGTGA... | TATTCTCAATGATCTGTTGGTTAGTTTCAGCCAGGAATGGGTTGATACCACTCAATAGCACATATACCAGTGTTCCAAGTGACCACATGTCTGTGGCTGTGCTGACAACATCATGCTGGTGGACTTCAGGTGCATAGTATTCTGGGGCAGTGAATAGAAGCCTGAAGTTGTCCCCTGGTTTCAGCTGACGGGCTTGACCAAATTCTATGATTTTAATGGTAGAGCTTCTTCTGGTTTGGTAAATGATATTTTCTGGTCTAATGTCAAAGTGTCCAATATTATGACTGTGTAAAAACTGAAGTGCTTCACAGACCTGGTGA... | benign | 47,432 |
Variant at chromosome 2, position 178536921, gene TTN: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TCTTTCATTAAGTTCAAAAGCACTTGTGTTAATGCGCTCAAATATGTCAAGTCCTGATATAAACTCAAAGATCATAACTAATTCTTCCATGCTTTCAAATGATTCATGGAGGTGTAAGATGTTTCTATGCCTAGCAATATTCAGAATGGAAATTTCCTTCTTTACCAAAACCTGATCAGTCCCTTTGACTTTAACAAATTTGGCCATGTATGTCTTCTTTGAGGATGTTTCAACACAACGATGGACAATTCCAAACTCACCACGCCCAAGATCTTCAGCAATCATATATTTCTCATAGAGTTCCTTGGTTGAAGAGTGAG... | TCTTTCATTAAGTTCAAAAGCACTTGTGTTAATGCGCTCAAATATGTCAAGTCCTGATATAAACTCAAAGATCATAACTAATTCTTCCATGCTTTCAAATGATTCATGGAGGTGTAAGATGTTTCTATGCCTAGCAATATTCAGAATGGAAATTTCCTTCTTTACCAAAACCTGATCAGTCCCTTTGACTTTAACAAATTTGGCCATGTATGTCTTCTTTGAGGATGTTTCAACACAACGATGGACAATTCCAAACTCACCACGCCCAAGATCTTCAGCAATCATATATTTCTCATAGAGTTCCTTGGTTGAAGAGTGAG... | benign | 47,434 |
Clinical significance of chromosome 2, position 178536947, gene TTN: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TGTTAATGCGCTCAAATATGTCAAGTCCTGATATAAACTCAAAGATCATAACTAATTCTTCCATGCTTTCAAATGATTCATGGAGGTGTAAGATGTTTCTATGCCTAGCAATATTCAGAATGGAAATTTCCTTCTTTACCAAAACCTGATCAGTCCCTTTGACTTTAACAAATTTGGCCATGTATGTCTTCTTTGAGGATGTTTCAACACAACGATGGACAATTCCAAACTCACCACGCCCAAGATCTTCAGCAATCATATATTTCTCATAGAGTTCCTTGGTTGAAGAGTGAGATGCTTTAGTCATGGAGACTTCCCTG... | TGTTAATGCGCTCAAATATGTCAAGTCCTGATATAAACTCAAAGATCATAACTAATTCTTCCATGCTTTCAAATGATTCATGGAGGTGTAAGATGTTTCTATGCCTAGCAATATTCAGAATGGAAATTTCCTTCTTTACCAAAACCTGATCAGTCCCTTTGACTTTAACAAATTTGGCCATGTATGTCTTCTTTGAGGATGTTTCAACACAACGATGGACAATTCCAAACTCACCACGCCCAAGATCTTCAGCAATCATATATTTCTCATAGAGTTCCTTGGTTGAAGAGTGAGATGCTTTAGTCATGGAGACTTCCCTG... | pathogenic | 47,435 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 178536957, gene TTN. What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | CTCAAATATGTCAAGTCCTGATATAAACTCAAAGATCATAACTAATTCTTCCATGCTTTCAAATGATTCATGGAGGTGTAAGATGTTTCTATGCCTAGCAATATTCAGAATGGAAATTTCCTTCTTTACCAAAACCTGATCAGTCCCTTTGACTTTAACAAATTTGGCCATGTATGTCTTCTTTGAGGATGTTTCAACACAACGATGGACAATTCCAAACTCACCACGCCCAAGATCTTCAGCAATCATATATTTCTCATAGAGTTCCTTGGTTGAAGAGTGAGATGCTTTAGTCATGGAGACTTCCCTGGTTTCATCTA... | CTCAAATATGTCAAGTCCTGATATAAACTCAAAGATCATAACTAATTCTTCCATGCTTTCAAATGATTCATGGAGGTGTAAGATGTTTCTATGCCTAGCAATATTCAGAATGGAAATTTCCTTCTTTACCAAAACCTGATCAGTCCCTTTGACTTTAACAAATTTGGCCATGTATGTCTTCTTTGAGGATGTTTCAACACAACGATGGACAATTCCAAACTCACCACGCCCAAGATCTTCAGCAATCATATATTTCTCATAGAGTTCCTTGGTTGAAGAGTGAGATGCTTTAGTCATGGAGACTTCCCTGGTTTCATCTA... | pathogenic | 47,436 |
Located at chromosome 2 position 178537078, the variant affecting gene TTN—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | TTCTTTACCAAAACCTGATCAGTCCCTTTGACTTTAACAAATTTGGCCATGTATGTCTTCTTTGAGGATGTTTCAACACAACGATGGACAATTCCAAACTCACCACGCCCAAGATCTTCAGCAATCATATATTTCTCATAGAGTTCCTTGGTTGAAGAGTGAGATGCTTTAGTCATGGAGACTTCCCTGGTTTCATCTACCTCTTCATCATAGTTCATAGCTCTGGTCTTATCTTCTTTGGTTATGGTTGGTTCTGAAGGCTCTGAAGGCTTGCTCAGACCAAATTTATTTTCAGCTATTACCCGGAACTGGTAACTTGT... | TTCTTTACCAAAACCTGATCAGTCCCTTTGACTTTAACAAATTTGGCCATGTATGTCTTCTTTGAGGATGTTTCAACACAACGATGGACAATTCCAAACTCACCACGCCCAAGATCTTCAGCAATCATATATTTCTCATAGAGTTCCTTGGTTGAAGAGTGAGATGCTTTAGTCATGGAGACTTCCCTGGTTTCATCTACCTCTTCATCATAGTTCATAGCTCTGGTCTTATCTTCTTTGGTTATGGTTGGTTCTGAAGGCTCTGAAGGCTTGCTCAGACCAAATTTATTTTCAGCTATTACCCGGAACTGGTAACTTGT... | pathogenic | 47,441 |
Variant on chromosome 2, at position 178537188, affecting TTN: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | AAGATCTTCAGCAATCATATATTTCTCATAGAGTTCCTTGGTTGAAGAGTGAGATGCTTTAGTCATGGAGACTTCCCTGGTTTCATCTACCTCTTCATCATAGTTCATAGCTCTGGTCTTATCTTCTTTGGTTATGGTTGGTTCTGAAGGCTCTGAAGGCTTGCTCAGACCAAATTTATTTTCAGCTATTACCCGGAACTGGTAACTTGTTTTTCCAAATAAGTTGATCACGGTATAACGTGTTTCTCGGGCCTGTCCTACACGGAGCCATCTTTCTGCAGTAGTTGCACATTTTTCAACAATGTAGTTGGTGATTTTGC... | AAGATCTTCAGCAATCATATATTTCTCATAGAGTTCCTTGGTTGAAGAGTGAGATGCTTTAGTCATGGAGACTTCCCTGGTTTCATCTACCTCTTCATCATAGTTCATAGCTCTGGTCTTATCTTCTTTGGTTATGGTTGGTTCTGAAGGCTCTGAAGGCTTGCTCAGACCAAATTTATTTTCAGCTATTACCCGGAACTGGTAACTTGTTTTTCCAAATAAGTTGATCACGGTATAACGTGTTTCTCGGGCCTGTCCTACACGGAGCCATCTTTCTGCAGTAGTTGCACATTTTTCAACAATGTAGTTGGTGATTTTGC... | pathogenic | 47,451 |
Evaluate if the mutation on chromosome 2 at position 178537234 in TTN is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_familial_dilated_cardiomyopathy'] | GAGTGAGATGCTTTAGTCATGGAGACTTCCCTGGTTTCATCTACCTCTTCATCATAGTTCATAGCTCTGGTCTTATCTTCTTTGGTTATGGTTGGTTCTGAAGGCTCTGAAGGCTTGCTCAGACCAAATTTATTTTCAGCTATTACCCGGAACTGGTAACTTGTTTTTCCAAATAAGTTGATCACGGTATAACGTGTTTCTCGGGCCTGTCCTACACGGAGCCATCTTTCTGCAGTAGTTGCACATTTTTCAACAATGTAGTTGGTGATTTTGCTGCCACCATCAGAGGCTGGCTCAGTCCATGTTAAGTTGACAGAATC... | GAGTGAGATGCTTTAGTCATGGAGACTTCCCTGGTTTCATCTACCTCTTCATCATAGTTCATAGCTCTGGTCTTATCTTCTTTGGTTATGGTTGGTTCTGAAGGCTCTGAAGGCTTGCTCAGACCAAATTTATTTTCAGCTATTACCCGGAACTGGTAACTTGTTTTTCCAAATAAGTTGATCACGGTATAACGTGTTTCTCGGGCCTGTCCTACACGGAGCCATCTTTCTGCAGTAGTTGCACATTTTTCAACAATGTAGTTGGTGATTTTGCTGCCACCATCAGAGGCTGGCTCAGTCCATGTTAAGTTGACAGAATC... | pathogenic | 47,453 |
Variant chromosome 2, position 178538643, gene TTN: benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TTTGAGTCATGAGATGAAACAGGCAGCTTTATTAAAGCTTATTTTTTTAAAAAAGAATGTTATATGAGTCCAAAATTTTGTTAAAAAATAGCTATTCCAGAAAGATGAAATTGGTTACTTTATACTAAGACATATCAAAAACCAAAGTTCTATTTTTACAATGGGGTTAGGATATATATTTCTCCTTTTAGATATGCAAACATTCAATTAAAGTGAAAGAAAAGGCACTTGTACTTTATCTGAATCTTTGCTATTTCCTTTCAAAATTTCTTTCTGTTTAAAAGAATTTTATGCAAAGATGGAACTTTACCATAGGAAGA... | TTTGAGTCATGAGATGAAACAGGCAGCTTTATTAAAGCTTATTTTTTTAAAAAAGAATGTTATATGAGTCCAAAATTTTGTTAAAAAATAGCTATTCCAGAAAGATGAAATTGGTTACTTTATACTAAGACATATCAAAAACCAAAGTTCTATTTTTACAATGGGGTTAGGATATATATTTCTCCTTTTAGATATGCAAACATTCAATTAAAGTGAAAGAAAAGGCACTTGTACTTTATCTGAATCTTTGCTATTTCCTTTCAAAATTTCTTTCTGTTTAAAAGAATTTTATGCAAAGATGGAACTTTACCATAGGAAGA... | pathogenic | 47,481 |
Is the genetic change at chromosome 2, position 178538765, 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', 'TTN-related_disorder'] | TACTAAGACATATCAAAAACCAAAGTTCTATTTTTACAATGGGGTTAGGATATATATTTCTCCTTTTAGATATGCAAACATTCAATTAAAGTGAAAGAAAAGGCACTTGTACTTTATCTGAATCTTTGCTATTTCCTTTCAAAATTTCTTTCTGTTTAAAAGAATTTTATGCAAAGATGGAACTTTACCATAGGAAGATACAGAAATCAAGTTGTACTCACCAAATGGACTCTTAATGATCACAACTGAGGACACTTCTAGAGGGTCACTGATGCCGAAAGTGTTCTGAGCTGAAACCCGGAAGTAATAGCCAGCATTTT... | TACTAAGACATATCAAAAACCAAAGTTCTATTTTTACAATGGGGTTAGGATATATATTTCTCCTTTTAGATATGCAAACATTCAATTAAAGTGAAAGAAAAGGCACTTGTACTTTATCTGAATCTTTGCTATTTCCTTTCAAAATTTCTTTCTGTTTAAAAGAATTTTATGCAAAGATGGAACTTTACCATAGGAAGATACAGAAATCAAGTTGTACTCACCAAATGGACTCTTAATGATCACAACTGAGGACACTTCTAGAGGGTCACTGATGCCGAAAGTGTTCTGAGCTGAAACCCGGAAGTAATAGCCAGCATTTT... | pathogenic | 47,487 |
Gene TTN variant at chromosome 2, position 178538787—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'] | AAGTTCTATTTTTACAATGGGGTTAGGATATATATTTCTCCTTTTAGATATGCAAACATTCAATTAAAGTGAAAGAAAAGGCACTTGTACTTTATCTGAATCTTTGCTATTTCCTTTCAAAATTTCTTTCTGTTTAAAAGAATTTTATGCAAAGATGGAACTTTACCATAGGAAGATACAGAAATCAAGTTGTACTCACCAAATGGACTCTTAATGATCACAACTGAGGACACTTCTAGAGGGTCACTGATGCCGAAAGTGTTCTGAGCTGAAACCCGGAAGTAATAGCCAGCATTTTCTGTGAGGTTCACAATTCTACA... | AAGTTCTATTTTTACAATGGGGTTAGGATATATATTTCTCCTTTTAGATATGCAAACATTCAATTAAAGTGAAAGAAAAGGCACTTGTACTTTATCTGAATCTTTGCTATTTCCTTTCAAAATTTCTTTCTGTTTAAAAGAATTTTATGCAAAGATGGAACTTTACCATAGGAAGATACAGAAATCAAGTTGTACTCACCAAATGGACTCTTAATGATCACAACTGAGGACACTTCTAGAGGGTCACTGATGCCGAAAGTGTTCTGAGCTGAAACCCGGAAGTAATAGCCAGCATTTTCTGTGAGGTTCACAATTCTACA... | pathogenic | 47,489 |
Does the genetic variant at chromosome 2, position 178538834, impacting gene TTN, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Autosomal_recessive_titinopathy', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy', 'Primary_familial_dilated_cardiomyopathy', 'TTN-related_disorder'] | ATATGCAAACATTCAATTAAAGTGAAAGAAAAGGCACTTGTACTTTATCTGAATCTTTGCTATTTCCTTTCAAAATTTCTTTCTGTTTAAAAGAATTTTATGCAAAGATGGAACTTTACCATAGGAAGATACAGAAATCAAGTTGTACTCACCAAATGGACTCTTAATGATCACAACTGAGGACACTTCTAGAGGGTCACTGATGCCGAAAGTGTTCTGAGCTGAAACCCGGAAGTAATAGCCAGCATTTTCTGTGAGGTTCACAATTCTACAGGTTGTCACTGAGATGGCTGAAGACACCAATTGCCATTCAGCCCCCT... | ATATGCAAACATTCAATTAAAGTGAAAGAAAAGGCACTTGTACTTTATCTGAATCTTTGCTATTTCCTTTCAAAATTTCTTTCTGTTTAAAAGAATTTTATGCAAAGATGGAACTTTACCATAGGAAGATACAGAAATCAAGTTGTACTCACCAAATGGACTCTTAATGATCACAACTGAGGACACTTCTAGAGGGTCACTGATGCCGAAAGTGTTCTGAGCTGAAACCCGGAAGTAATAGCCAGCATTTTCTGTGAGGTTCACAATTCTACAGGTTGTCACTGAGATGGCTGAAGACACCAATTGCCATTCAGCCCCCT... | pathogenic | 47,492 |
Variant chromosome 2, position 178539123, gene TTN: benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Hypertrophic_cardiomyopathy_9'] | GCTGAAGACACCAATTGCCATTCAGCCCCCTCCTTGGCCTCACATTTTTCCACCACATAGTTGGTGATCCAGGAGCCTCCGTCATCTGCGGGTGGTTTCCAGCTGATCACTGCGGAGTTCTTCAATAGAGCTTCGATCACAATTGGTCCTGTAGGTTTGTCTGGTTTATCTGTTGGGGGAAAATACAATTGTGGTGGTTTTCATAGTGTGTTTTTGAGATTTTTTTTTCTTTAAAAATAAAAAGCACTGAAAATAAAAATAAAATACCTTGTATTTCCACATCAAGGATGGCATCAACTGTTCCAAAAACATTGCTGAGC... | GCTGAAGACACCAATTGCCATTCAGCCCCCTCCTTGGCCTCACATTTTTCCACCACATAGTTGGTGATCCAGGAGCCTCCGTCATCTGCGGGTGGTTTCCAGCTGATCACTGCGGAGTTCTTCAATAGAGCTTCGATCACAATTGGTCCTGTAGGTTTGTCTGGTTTATCTGTTGGGGGAAAATACAATTGTGGTGGTTTTCATAGTGTGTTTTTGAGATTTTTTTTTCTTTAAAAATAAAAAGCACTGAAAATAAAAATAAAATACCTTGTATTTCCACATCAAGGATGGCATCAACTGTTCCAAAAACATTGCTGAGC... | pathogenic | 47,502 |
Mutation at chromosome 2, position 178539764, within TTN: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Primary_dilated_cardiomyopathy', 'SUDDEN_INFANT_DEATH_SYNDROME'] | TCCTCTGTCATTACTGTAAGAGTGTGTGTGCGTCCATCTGAAGACATTTTGTATTTCCGGCTTTGTATGAGCTCTTTACCAAATCTGTACCATTTAATGTCAGGAAGAGGCCTTCCAACAATCTGGCATGAGAGTTGAGCAGCTTCACCCAATTTTGTGGTAACATCCTTCATTTCTTTGCGTATTCCTGGGGCCTCTCCAGCTGAACAATATGAAAGATAATATTAAGTGACTGTTAATACTCAATCTGTAATCCTTTGTCCTTGTATATCAGGAATGAATTTACCTTATTTACTGACACATACCATGATTTACATATT... | TCCTCTGTCATTACTGTAAGAGTGTGTGTGCGTCCATCTGAAGACATTTTGTATTTCCGGCTTTGTATGAGCTCTTTACCAAATCTGTACCATTTAATGTCAGGAAGAGGCCTTCCAACAATCTGGCATGAGAGTTGAGCAGCTTCACCCAATTTTGTGGTAACATCCTTCATTTCTTTGCGTATTCCTGGGGCCTCTCCAGCTGAACAATATGAAAGATAATATTAAGTGACTGTTAATACTCAATCTGTAATCCTTTGTCCTTGTATATCAGGAATGAATTTACCTTATTTACTGACACATACCATGATTTACATATT... | pathogenic | 47,523 |
Variant in gene TTN, located at chromosome 2 position 178539765: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CCTCTGTCATTACTGTAAGAGTGTGTGTGCGTCCATCTGAAGACATTTTGTATTTCCGGCTTTGTATGAGCTCTTTACCAAATCTGTACCATTTAATGTCAGGAAGAGGCCTTCCAACAATCTGGCATGAGAGTTGAGCAGCTTCACCCAATTTTGTGGTAACATCCTTCATTTCTTTGCGTATTCCTGGGGCCTCTCCAGCTGAACAATATGAAAGATAATATTAAGTGACTGTTAATACTCAATCTGTAATCCTTTGTCCTTGTATATCAGGAATGAATTTACCTTATTTACTGACACATACCATGATTTACATATTA... | CCTCTGTCATTACTGTAAGAGTGTGTGTGCGTCCATCTGAAGACATTTTGTATTTCCGGCTTTGTATGAGCTCTTTACCAAATCTGTACCATTTAATGTCAGGAAGAGGCCTTCCAACAATCTGGCATGAGAGTTGAGCAGCTTCACCCAATTTTGTGGTAACATCCTTCATTTCTTTGCGTATTCCTGGGGCCTCTCCAGCTGAACAATATGAAAGATAATATTAAGTGACTGTTAATACTCAATCTGTAATCCTTTGTCCTTGTATATCAGGAATGAATTTACCTTATTTACTGACACATACCATGATTTACATATTA... | pathogenic | 47,524 |
A mutation at chromosome position 178540085 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', 'Dilated_cardiomyopathy_1G', 'TTN-related_disorder'] | GCCTAATTCTTAAAAACTCTTTGAAGTGATTTTCCTAGGATCATATGGTAAATAGGGATTCAATGAGCACATCGTCACATTTTATGTAGAGTGTTTTTTTCTCTTTATGATTGGAAGGGGATTAATAATGTATAGGCTTTTAAGGGACTGTAAATTCTCTCTATAATTCTGTAGTATTCTTGCCCTTACTTAGGTTCATTGAAGTGGCATACAATTGTTGACCTTTCAAATCTTGTTGGGAAATATTTTTAAAAAGAAACCATTGCATTAGAGGGAATTACTCAAGGAAAGTGCTCAGTTCACTCCATCTAACATCTGCT... | GCCTAATTCTTAAAAACTCTTTGAAGTGATTTTCCTAGGATCATATGGTAAATAGGGATTCAATGAGCACATCGTCACATTTTATGTAGAGTGTTTTTTTCTCTTTATGATTGGAAGGGGATTAATAATGTATAGGCTTTTAAGGGACTGTAAATTCTCTCTATAATTCTGTAGTATTCTTGCCCTTACTTAGGTTCATTGAAGTGGCATACAATTGTTGACCTTTCAAATCTTGTTGGGAAATATTTTTAAAAAGAAACCATTGCATTAGAGGGAATTACTCAAGGAAAGTGCTCAGTTCACTCCATCTAACATCTGCT... | pathogenic | 47,540 |
Mutation at chromosome 2, position 178540093, within TTN: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CTTAAAAACTCTTTGAAGTGATTTTCCTAGGATCATATGGTAAATAGGGATTCAATGAGCACATCGTCACATTTTATGTAGAGTGTTTTTTTCTCTTTATGATTGGAAGGGGATTAATAATGTATAGGCTTTTAAGGGACTGTAAATTCTCTCTATAATTCTGTAGTATTCTTGCCCTTACTTAGGTTCATTGAAGTGGCATACAATTGTTGACCTTTCAAATCTTGTTGGGAAATATTTTTAAAAAGAAACCATTGCATTAGAGGGAATTACTCAAGGAAAGTGCTCAGTTCACTCCATCTAACATCTGCTGAGGTTGT... | CTTAAAAACTCTTTGAAGTGATTTTCCTAGGATCATATGGTAAATAGGGATTCAATGAGCACATCGTCACATTTTATGTAGAGTGTTTTTTTCTCTTTATGATTGGAAGGGGATTAATAATGTATAGGCTTTTAAGGGACTGTAAATTCTCTCTATAATTCTGTAGTATTCTTGCCCTTACTTAGGTTCATTGAAGTGGCATACAATTGTTGACCTTTCAAATCTTGTTGGGAAATATTTTTAAAAAGAAACCATTGCATTAGAGGGAATTACTCAAGGAAAGTGCTCAGTTCACTCCATCTAACATCTGCTGAGGTTGT... | pathogenic | 47,542 |
Variant in TTN, chromosome 2, position 178540215—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TATAGGCTTTTAAGGGACTGTAAATTCTCTCTATAATTCTGTAGTATTCTTGCCCTTACTTAGGTTCATTGAAGTGGCATACAATTGTTGACCTTTCAAATCTTGTTGGGAAATATTTTTAAAAAGAAACCATTGCATTAGAGGGAATTACTCAAGGAAAGTGCTCAGTTCACTCCATCTAACATCTGCTGAGGTTGTGTGCTTGGAATGGTTTCCTGTAGAACTTGTCATATTTCCTGTGTGTGTACTTGCTTTTCTTTCTTAACACTTGCTCTCCAATAAAGCTTTCCAGGGTTCTACTTAGTATAGAGGGGGAATTA... | TATAGGCTTTTAAGGGACTGTAAATTCTCTCTATAATTCTGTAGTATTCTTGCCCTTACTTAGGTTCATTGAAGTGGCATACAATTGTTGACCTTTCAAATCTTGTTGGGAAATATTTTTAAAAAGAAACCATTGCATTAGAGGGAATTACTCAAGGAAAGTGCTCAGTTCACTCCATCTAACATCTGCTGAGGTTGTGTGCTTGGAATGGTTTCCTGTAGAACTTGTCATATTTCCTGTGTGTGTACTTGCTTTTCTTTCTTAACACTTGCTCTCCAATAAAGCTTTCCAGGGTTCTACTTAGTATAGAGGGGGAATTA... | pathogenic | 47,550 |
Does the variant impacting TTN on chromosome 2, position 178541413, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | GTTGAAAGGGCACTTACTCAATGGTGTTTTTGGTGTGACTGGTTCCTCAGATTTCAAGGGTTTGCTTATGCCAAACTGGTTTTCTGCTGAAACACGGAAATGGTATTCTACATTCTCTTTGAGGCCTTTTACCACCAGAGATGTACCTCGGACTCTGGAATCAATGGTATACCAGGCGGCTTTAGGCACTTCTCGTCTCTCGAGGATGTAGCCTAAGATGTCAGCACCACCATCATCAGCAGGAGGTCTCCAGCTGACCCTCACAGAGCGGACTTGGATGTCATCATATTCCAGTGGCCCTTCTGGACTGTTGGGACTTC... | GTTGAAAGGGCACTTACTCAATGGTGTTTTTGGTGTGACTGGTTCCTCAGATTTCAAGGGTTTGCTTATGCCAAACTGGTTTTCTGCTGAAACACGGAAATGGTATTCTACATTCTCTTTGAGGCCTTTTACCACCAGAGATGTACCTCGGACTCTGGAATCAATGGTATACCAGGCGGCTTTAGGCACTTCTCGTCTCTCGAGGATGTAGCCTAAGATGTCAGCACCACCATCATCAGCAGGAGGTCTCCAGCTGACCCTCACAGAGCGGACTTGGATGTCATCATATTCCAGTGGCCCTTCTGGACTGTTGGGACTTC... | pathogenic | 47,567 |
Clinical classification of chromosome 2, position 178541488, gene TTN: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CTGGTTTTCTGCTGAAACACGGAAATGGTATTCTACATTCTCTTTGAGGCCTTTTACCACCAGAGATGTACCTCGGACTCTGGAATCAATGGTATACCAGGCGGCTTTAGGCACTTCTCGTCTCTCGAGGATGTAGCCTAAGATGTCAGCACCACCATCATCAGCAGGAGGTCTCCAGCTGACCCTCACAGAGCGGACTTGGATGTCATCATATTCCAGTGGCCCTTCTGGACTGTTGGGACTTCCTATCACCCTGACCTTGATGTAGACAGCCTTCTTGCCACATTTATTTTCCAGAACCAGGTCATAAGTGCCAGAAT... | CTGGTTTTCTGCTGAAACACGGAAATGGTATTCTACATTCTCTTTGAGGCCTTTTACCACCAGAGATGTACCTCGGACTCTGGAATCAATGGTATACCAGGCGGCTTTAGGCACTTCTCGTCTCTCGAGGATGTAGCCTAAGATGTCAGCACCACCATCATCAGCAGGAGGTCTCCAGCTGACCCTCACAGAGCGGACTTGGATGTCATCATATTCCAGTGGCCCTTCTGGACTGTTGGGACTTCCTATCACCCTGACCTTGATGTAGACAGCCTTCTTGCCACATTTATTTTCCAGAACCAGGTCATAAGTGCCAGAAT... | pathogenic | 47,575 |
The chromosome 2, position 178541518 genetic variant in gene TTN: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype'] | TTCTACATTCTCTTTGAGGCCTTTTACCACCAGAGATGTACCTCGGACTCTGGAATCAATGGTATACCAGGCGGCTTTAGGCACTTCTCGTCTCTCGAGGATGTAGCCTAAGATGTCAGCACCACCATCATCAGCAGGAGGTCTCCAGCTGACCCTCACAGAGCGGACTTGGATGTCATCATATTCCAGTGGCCCTTCTGGACTGTTGGGACTTCCTATCACCCTGACCTTGATGTAGACAGCCTTCTTGCCACATTTATTTTCCAGAACCAGGTCATAAGTGCCAGAATCACCCCTGTCTGCTTCTTTGATCACAAGCT... | TTCTACATTCTCTTTGAGGCCTTTTACCACCAGAGATGTACCTCGGACTCTGGAATCAATGGTATACCAGGCGGCTTTAGGCACTTCTCGTCTCTCGAGGATGTAGCCTAAGATGTCAGCACCACCATCATCAGCAGGAGGTCTCCAGCTGACCCTCACAGAGCGGACTTGGATGTCATCATATTCCAGTGGCCCTTCTGGACTGTTGGGACTTCCTATCACCCTGACCTTGATGTAGACAGCCTTCTTGCCACATTTATTTTCCAGAACCAGGTCATAAGTGCCAGAATCACCCCTGTCTGCTTCTTTGATCACAAGCT... | pathogenic | 47,579 |
Does the chromosome 2 mutation at position 178541549 within gene TTN classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | AGAGATGTACCTCGGACTCTGGAATCAATGGTATACCAGGCGGCTTTAGGCACTTCTCGTCTCTCGAGGATGTAGCCTAAGATGTCAGCACCACCATCATCAGCAGGAGGTCTCCAGCTGACCCTCACAGAGCGGACTTGGATGTCATCATATTCCAGTGGCCCTTCTGGACTGTTGGGACTTCCTATCACCCTGACCTTGATGTAGACAGCCTTCTTGCCACATTTATTTTCCAGAACCAGGTCATAAGTGCCAGAATCACCCCTGTCTGCTTCTTTGATCACAAGCTCAGTGTGTGTTTCAGATGTTGCAATCATGGC... | AGAGATGTACCTCGGACTCTGGAATCAATGGTATACCAGGCGGCTTTAGGCACTTCTCGTCTCTCGAGGATGTAGCCTAAGATGTCAGCACCACCATCATCAGCAGGAGGTCTCCAGCTGACCCTCACAGAGCGGACTTGGATGTCATCATATTCCAGTGGCCCTTCTGGACTGTTGGGACTTCCTATCACCCTGACCTTGATGTAGACAGCCTTCTTGCCACATTTATTTTCCAGAACCAGGTCATAAGTGCCAGAATCACCCCTGTCTGCTTCTTTGATCACAAGCTCAGTGTGTGTTTCAGATGTTGCAATCATGGC... | pathogenic | 47,581 |
Evaluate this variant at chromosome 2, position 178542282, 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'] | TTGATCTACTTTTTGCATTTCAATCAAGTAGCCTGTGACTTTAGATCCTCCTTCATCTTCTGGAACACTCCAGGCCAGGGAGACTGATGTCCTTGTTGTATCAGTAACTCTTGGGTTTTGTGGCTTTCCTGGAGGAGCTGAGAATAAGAATAAGAATATACTGGTTAAAGTTGCTGCAAAGTTGAAAATTAGCTGTGCCACCTAACAAATTCAATGAGTTGTTGAAACGGACTGTTAACATTAGCCTGTTTTTTTGTCTTGTGAAAATTTTATTCATGGCTGGGTGTGGTGGCTCATGCCTGTAATCACAGCAAGTTGGG... | TTGATCTACTTTTTGCATTTCAATCAAGTAGCCTGTGACTTTAGATCCTCCTTCATCTTCTGGAACACTCCAGGCCAGGGAGACTGATGTCCTTGTTGTATCAGTAACTCTTGGGTTTTGTGGCTTTCCTGGAGGAGCTGAGAATAAGAATAAGAATATACTGGTTAAAGTTGCTGCAAAGTTGAAAATTAGCTGTGCCACCTAACAAATTCAATGAGTTGTTGAAACGGACTGTTAACATTAGCCTGTTTTTTTGTCTTGTGAAAATTTTATTCATGGCTGGGTGTGGTGGCTCATGCCTGTAATCACAGCAAGTTGGG... | pathogenic | 47,585 |
Variant in TTN, chromosome 2, position 178542303—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'TTN-related_disorder'] | AATCAAGTAGCCTGTGACTTTAGATCCTCCTTCATCTTCTGGAACACTCCAGGCCAGGGAGACTGATGTCCTTGTTGTATCAGTAACTCTTGGGTTTTGTGGCTTTCCTGGAGGAGCTGAGAATAAGAATAAGAATATACTGGTTAAAGTTGCTGCAAAGTTGAAAATTAGCTGTGCCACCTAACAAATTCAATGAGTTGTTGAAACGGACTGTTAACATTAGCCTGTTTTTTTGTCTTGTGAAAATTTTATTCATGGCTGGGTGTGGTGGCTCATGCCTGTAATCACAGCAAGTTGGGAGGCCAAGGTGGGCAGATACT... | AATCAAGTAGCCTGTGACTTTAGATCCTCCTTCATCTTCTGGAACACTCCAGGCCAGGGAGACTGATGTCCTTGTTGTATCAGTAACTCTTGGGTTTTGTGGCTTTCCTGGAGGAGCTGAGAATAAGAATAAGAATATACTGGTTAAAGTTGCTGCAAAGTTGAAAATTAGCTGTGCCACCTAACAAATTCAATGAGTTGTTGAAACGGACTGTTAACATTAGCCTGTTTTTTTGTCTTGTGAAAATTTTATTCATGGCTGGGTGTGGTGGCTCATGCCTGTAATCACAGCAAGTTGGGAGGCCAAGGTGGGCAGATACT... | pathogenic | 47,587 |
A genetic alteration at chromosome 2, position 178542338, in gene TTN—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cardiovascular_phenotype', 'Centronuclear_myopathy', 'Dilated_cardiomyopathy_1G'] | CTTCTGGAACACTCCAGGCCAGGGAGACTGATGTCCTTGTTGTATCAGTAACTCTTGGGTTTTGTGGCTTTCCTGGAGGAGCTGAGAATAAGAATAAGAATATACTGGTTAAAGTTGCTGCAAAGTTGAAAATTAGCTGTGCCACCTAACAAATTCAATGAGTTGTTGAAACGGACTGTTAACATTAGCCTGTTTTTTTGTCTTGTGAAAATTTTATTCATGGCTGGGTGTGGTGGCTCATGCCTGTAATCACAGCAAGTTGGGAGGCCAAGGTGGGCAGATACTTGAGGTCAGGAGTTAGTTCAAGACCAGCCTGGCCA... | CTTCTGGAACACTCCAGGCCAGGGAGACTGATGTCCTTGTTGTATCAGTAACTCTTGGGTTTTGTGGCTTTCCTGGAGGAGCTGAGAATAAGAATAAGAATATACTGGTTAAAGTTGCTGCAAAGTTGAAAATTAGCTGTGCCACCTAACAAATTCAATGAGTTGTTGAAACGGACTGTTAACATTAGCCTGTTTTTTTGTCTTGTGAAAATTTTATTCATGGCTGGGTGTGGTGGCTCATGCCTGTAATCACAGCAAGTTGGGAGGCCAAGGTGGGCAGATACTTGAGGTCAGGAGTTAGTTCAAGACCAGCCTGGCCA... | pathogenic | 47,589 |
Classify the chromosome 2 variant at position 178542723 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', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Primary_dilated_cardiomyopathy', 'Tibial_mu... | AATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAACACAAAAAAACAAAAGAAAGAAAAAAGAAAATTTTATTCATTTTATCAGCTAAAAATACTTAACATTTTTTCACTTTCCTTTCTCTTAAATGTGCTTCATTTGTAATCACTATTATTATCTTACATTTATCAGCAGTTTTTAAAGTGCTTCCAGAAATATTAACTTGTTTTAAAATTTTAAGTGTGATAGAA... | AATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAACACAAAAAAACAAAAGAAAGAAAAAAGAAAATTTTATTCATTTTATCAGCTAAAAATACTTAACATTTTTTCACTTTCCTTTCTCTTAAATGTGCTTCATTTGTAATCACTATTATTATCTTACATTTATCAGCAGTTTTTAAAGTGCTTCCAGAAATATTAACTTGTTTTAAAATTTTAAGTGTGATAGAA... | pathogenic | 47,608 |
A mutation at chromosome position 178542739 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', 'TTN-related_disorder'] | GAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAACACAAAAAAACAAAAGAAAGAAAAAAGAAAATTTTATTCATTTTATCAGCTAAAAATACTTAACATTTTTTCACTTTCCTTTCTCTTAAATGTGCTTCATTTGTAATCACTATTATTATCTTACATTTATCAGCAGTTTTTAAAGTGCTTCCAGAAATATTAACTTGTTTTAAAATTTTAAGTGTGATAGAAAGCATATATTATGAAT... | GAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAACACAAAAAAACAAAAGAAAGAAAAAAGAAAATTTTATTCATTTTATCAGCTAAAAATACTTAACATTTTTTCACTTTCCTTTCTCTTAAATGTGCTTCATTTGTAATCACTATTATTATCTTACATTTATCAGCAGTTTTTAAAGTGCTTCCAGAAATATTAACTTGTTTTAAAATTTTAAGTGTGATAGAAAGCATATATTATGAAT... | pathogenic | 47,609 |
Is the genetic change at chromosome 2, position 178542803, 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', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Primary_dilated_cardiomyopathy', 'Tibial_mu... | CACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAACACAAAAAAACAAAAGAAAGAAAAAAGAAAATTTTATTCATTTTATCAGCTAAAAATACTTAACATTTTTTCACTTTCCTTTCTCTTAAATGTGCTTCATTTGTAATCACTATTATTATCTTACATTTATCAGCAGTTTTTAAAGTGCTTCCAGAAATATTAACTTGTTTTAAAATTTTAAGTGTGATAGAAAGCATATATTATGAATCTCATCTTAAAGAAGTGGAAATTGACTCCAGAGAAGAATATTAAAAATTATTTGCCAGAAATCG... | CACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAACACAAAAAAACAAAAGAAAGAAAAAAGAAAATTTTATTCATTTTATCAGCTAAAAATACTTAACATTTTTTCACTTTCCTTTCTCTTAAATGTGCTTCATTTGTAATCACTATTATTATCTTACATTTATCAGCAGTTTTTAAAGTGCTTCCAGAAATATTAACTTGTTTTAAAATTTTAAGTGTGATAGAAAGCATATATTATGAATCTCATCTTAAAGAAGTGGAAATTGACTCCAGAGAAGAATATTAAAAATTATTTGCCAGAAATCG... | pathogenic | 47,612 |
Is the chromosome 2, position 178543101 variant in TTN clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy', 'Primary_familial_dilated_cardiomyopathy'] | AAAAATTATTTGCCAGAAATCGCTAGCAGCTGGGGTGGGGAAGGGACTGATTACAAACGGACACAAGGGAACTTTACGGGGTAATAAAAATATTCCACATTTTGATTGTGGTGGTGATTACAAAACAGTACATTTTTCAAAAGTCATAGAACTATATATTTCAAAAAGGTGAATTTTCCCACATATAAATTGTAACTCAATCAATTTGACTGATACAAAATGTCCTTACCAATTGGATCCATGGCAACGATGGGTTTGGAAGGACGACTTGGTTTCCCAGACCCTCTTGCATTAATGGCTGTGACACGGTGTTCATATTC... | AAAAATTATTTGCCAGAAATCGCTAGCAGCTGGGGTGGGGAAGGGACTGATTACAAACGGACACAAGGGAACTTTACGGGGTAATAAAAATATTCCACATTTTGATTGTGGTGGTGATTACAAAACAGTACATTTTTCAAAAGTCATAGAACTATATATTTCAAAAAGGTGAATTTTCCCACATATAAATTGTAACTCAATCAATTTGACTGATACAAAATGTCCTTACCAATTGGATCCATGGCAACGATGGGTTTGGAAGGACGACTTGGTTTCCCAGACCCTCTTGCATTAATGGCTGTGACACGGTGTTCATATTC... | pathogenic | 47,623 |
Regarding the variant at chromosome 2 and position 178543123, affecting gene TTN: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CTAGCAGCTGGGGTGGGGAAGGGACTGATTACAAACGGACACAAGGGAACTTTACGGGGTAATAAAAATATTCCACATTTTGATTGTGGTGGTGATTACAAAACAGTACATTTTTCAAAAGTCATAGAACTATATATTTCAAAAAGGTGAATTTTCCCACATATAAATTGTAACTCAATCAATTTGACTGATACAAAATGTCCTTACCAATTGGATCCATGGCAACGATGGGTTTGGAAGGACGACTTGGTTTCCCAGACCCTCTTGCATTAATGGCTGTGACACGGTGTTCATATTCTAAGCCTTCAGTAAGGCCAGTG... | CTAGCAGCTGGGGTGGGGAAGGGACTGATTACAAACGGACACAAGGGAACTTTACGGGGTAATAAAAATATTCCACATTTTGATTGTGGTGGTGATTACAAAACAGTACATTTTTCAAAAGTCATAGAACTATATATTTCAAAAAGGTGAATTTTCCCACATATAAATTGTAACTCAATCAATTTGACTGATACAAAATGTCCTTACCAATTGGATCCATGGCAACGATGGGTTTGGAAGGACGACTTGGTTTCCCAGACCCTCTTGCATTAATGGCTGTGACACGGTGTTCATATTCTAAGCCTTCAGTAAGGCCAGTG... | pathogenic | 47,626 |
Is the variant located on chromosome 2 at position 178543141, 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'] | AAGGGACTGATTACAAACGGACACAAGGGAACTTTACGGGGTAATAAAAATATTCCACATTTTGATTGTGGTGGTGATTACAAAACAGTACATTTTTCAAAAGTCATAGAACTATATATTTCAAAAAGGTGAATTTTCCCACATATAAATTGTAACTCAATCAATTTGACTGATACAAAATGTCCTTACCAATTGGATCCATGGCAACGATGGGTTTGGAAGGACGACTTGGTTTCCCAGACCCTCTTGCATTAATGGCTGTGACACGGTGTTCATATTCTAAGCCTTCAGTAAGGCCAGTGGAGCGGTACCGTGTCATT... | AAGGGACTGATTACAAACGGACACAAGGGAACTTTACGGGGTAATAAAAATATTCCACATTTTGATTGTGGTGGTGATTACAAAACAGTACATTTTTCAAAAGTCATAGAACTATATATTTCAAAAAGGTGAATTTTCCCACATATAAATTGTAACTCAATCAATTTGACTGATACAAAATGTCCTTACCAATTGGATCCATGGCAACGATGGGTTTGGAAGGACGACTTGGTTTCCCAGACCCTCTTGCATTAATGGCTGTGACACGGTGTTCATATTCTAAGCCTTCAGTAAGGCCAGTGGAGCGGTACCGTGTCATT... | pathogenic | 47,630 |
Variant on chromosome 2, at position 178543288, 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'] | AATTGTAACTCAATCAATTTGACTGATACAAAATGTCCTTACCAATTGGATCCATGGCAACGATGGGTTTGGAAGGACGACTTGGTTTCCCAGACCCTCTTGCATTAATGGCTGTGACACGGTGTTCATATTCTAAGCCTTCAGTAAGGCCAGTGGAGCGGTACCGTGTCATTGTCACAGGTACTTTATTTACACGGACCCATCGATCTGCTCTCACTTCTTTGCGCTCCACAATATATCCAGTCACTTGGGAGCCACCGTCATCCTCTGGTGGGTACCAAGTAAGTGTCATGCCATCACGGGAAACATCAAATATCTGT... | AATTGTAACTCAATCAATTTGACTGATACAAAATGTCCTTACCAATTGGATCCATGGCAACGATGGGTTTGGAAGGACGACTTGGTTTCCCAGACCCTCTTGCATTAATGGCTGTGACACGGTGTTCATATTCTAAGCCTTCAGTAAGGCCAGTGGAGCGGTACCGTGTCATTGTCACAGGTACTTTATTTACACGGACCCATCGATCTGCTCTCACTTCTTTGCGCTCCACAATATATCCAGTCACTTGGGAGCCACCGTCATCCTCTGGTGGGTACCAAGTAAGTGTCATGCCATCACGGGAAACATCAAATATCTGT... | pathogenic | 47,636 |
Is chromosome 2, position 178543290, gene TTN variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TTGTAACTCAATCAATTTGACTGATACAAAATGTCCTTACCAATTGGATCCATGGCAACGATGGGTTTGGAAGGACGACTTGGTTTCCCAGACCCTCTTGCATTAATGGCTGTGACACGGTGTTCATATTCTAAGCCTTCAGTAAGGCCAGTGGAGCGGTACCGTGTCATTGTCACAGGTACTTTATTTACACGGACCCATCGATCTGCTCTCACTTCTTTGCGCTCCACAATATATCCAGTCACTTGGGAGCCACCGTCATCCTCTGGTGGGTACCAAGTAAGTGTCATGCCATCACGGGAAACATCAAATATCTGTAA... | TTGTAACTCAATCAATTTGACTGATACAAAATGTCCTTACCAATTGGATCCATGGCAACGATGGGTTTGGAAGGACGACTTGGTTTCCCAGACCCTCTTGCATTAATGGCTGTGACACGGTGTTCATATTCTAAGCCTTCAGTAAGGCCAGTGGAGCGGTACCGTGTCATTGTCACAGGTACTTTATTTACACGGACCCATCGATCTGCTCTCACTTCTTTGCGCTCCACAATATATCCAGTCACTTGGGAGCCACCGTCATCCTCTGGTGGGTACCAAGTAAGTGTCATGCCATCACGGGAAACATCAAATATCTGTAA... | pathogenic | 47,637 |
Mutation at chromosome 2, position 178543864, within TTN: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TGCAGTTTGTTACATGGGTATATTGCATGATGCTGAGGTTTAATTTTGTACTTTCCTTGCTGTTCCTCATTTTCTTCAATTCTACATTTATTAAGCATGCACTCTGTATTTTTTTCTCACTATAACATTGCCAGTCCTCCTTCCTTTCCTCTCTTCCTCCTTCCCTTCTCTCTTTTCTTCCTTCCATTCCTTTCTTCCTAACTCCCTCCTCTTCTCTTTCATAAGAGTGAAGATATTAAAAAAAAAATCAAGCCTAAGTGTGTTGAAAACCTCTGAGAAAAGGAGGTTTAGAAACCTGAGAAAAGGAGGTTTAGAAACCT... | TGCAGTTTGTTACATGGGTATATTGCATGATGCTGAGGTTTAATTTTGTACTTTCCTTGCTGTTCCTCATTTTCTTCAATTCTACATTTATTAAGCATGCACTCTGTATTTTTTTCTCACTATAACATTGCCAGTCCTCCTTCCTTTCCTCTCTTCCTCCTTCCCTTCTCTCTTTTCTTCCTTCCATTCCTTTCTTCCTAACTCCCTCCTCTTCTCTTTCATAAGAGTGAAGATATTAAAAAAAAAATCAAGCCTAAGTGTGTTGAAAACCTCTGAGAAAAGGAGGTTTAGAAACCTGAGAAAAGGAGGTTTAGAAACCT... | pathogenic | 47,658 |
Gene TTN variant at chromosome 2, position 178543908—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'] | TTTGTACTTTCCTTGCTGTTCCTCATTTTCTTCAATTCTACATTTATTAAGCATGCACTCTGTATTTTTTTCTCACTATAACATTGCCAGTCCTCCTTCCTTTCCTCTCTTCCTCCTTCCCTTCTCTCTTTTCTTCCTTCCATTCCTTTCTTCCTAACTCCCTCCTCTTCTCTTTCATAAGAGTGAAGATATTAAAAAAAAAATCAAGCCTAAGTGTGTTGAAAACCTCTGAGAAAAGGAGGTTTAGAAACCTGAGAAAAGGAGGTTTAGAAACCTTAGAAAGACCACAGGGTTAATTTTGTGACCTATTTTTATTTACA... | TTTGTACTTTCCTTGCTGTTCCTCATTTTCTTCAATTCTACATTTATTAAGCATGCACTCTGTATTTTTTTCTCACTATAACATTGCCAGTCCTCCTTCCTTTCCTCTCTTCCTCCTTCCCTTCTCTCTTTTCTTCCTTCCATTCCTTTCTTCCTAACTCCCTCCTCTTCTCTTTCATAAGAGTGAAGATATTAAAAAAAAAATCAAGCCTAAGTGTGTTGAAAACCTCTGAGAAAAGGAGGTTTAGAAACCTGAGAAAAGGAGGTTTAGAAACCTTAGAAAGACCACAGGGTTAATTTTGTGACCTATTTTTATTTACA... | pathogenic | 47,659 |
Considering the variant on chromosome 2, location 178544399, 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', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CATTTCCTTCGGTGAGTCTGGTAAACTTAAACGTGGACCTAGTCACTGATTCAGAAACGGGCAGCCATCCTGGACGATGAGCGTCACGTTGTTCTACCACATAACCACTCAGTGGAGCACCACCGTCCAATTCAGGTGGTTCCCAGGAAATGGTAATTGATGTAGCATCAATTTCATCAATCTTAATAGGTCCTGTTGGTGGACCAGGCTTGTCTATGAAAGAGAAGAAATACAGGAAATTAATTTTTACTTCAAATCAAAATTGGGTGACTGAACATCAACTTGCTTGTATCTTTGTCACACATCCTTACCAAGAATGA... | CATTTCCTTCGGTGAGTCTGGTAAACTTAAACGTGGACCTAGTCACTGATTCAGAAACGGGCAGCCATCCTGGACGATGAGCGTCACGTTGTTCTACCACATAACCACTCAGTGGAGCACCACCGTCCAATTCAGGTGGTTCCCAGGAAATGGTAATTGATGTAGCATCAATTTCATCAATCTTAATAGGTCCTGTTGGTGGACCAGGCTTGTCTATGAAAGAGAAGAAATACAGGAAATTAATTTTTACTTCAAATCAAAATTGGGTGACTGAACATCAACTTGCTTGTATCTTTGTCACACATCCTTACCAAGAATGA... | pathogenic | 47,683 |
Variant in gene TTN, located at chromosome 2 position 178544458: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | GGCAGCCATCCTGGACGATGAGCGTCACGTTGTTCTACCACATAACCACTCAGTGGAGCACCACCGTCCAATTCAGGTGGTTCCCAGGAAATGGTAATTGATGTAGCATCAATTTCATCAATCTTAATAGGTCCTGTTGGTGGACCAGGCTTGTCTATGAAAGAGAAGAAATACAGGAAATTAATTTTTACTTCAAATCAAAATTGGGTGACTGAACATCAACTTGCTTGTATCTTTGTCACACATCCTTACCAAGAATGATAACTTTAATGGTTTCTGAAGTAGTTCCGGTAACATTCTTCAATTCAAGTGTGTATTCT... | GGCAGCCATCCTGGACGATGAGCGTCACGTTGTTCTACCACATAACCACTCAGTGGAGCACCACCGTCCAATTCAGGTGGTTCCCAGGAAATGGTAATTGATGTAGCATCAATTTCATCAATCTTAATAGGTCCTGTTGGTGGACCAGGCTTGTCTATGAAAGAGAAGAAATACAGGAAATTAATTTTTACTTCAAATCAAAATTGGGTGACTGAACATCAACTTGCTTGTATCTTTGTCACACATCCTTACCAAGAATGATAACTTTAATGGTTTCTGAAGTAGTTCCGGTAACATTCTTCAATTCAAGTGTGTATTCT... | pathogenic | 47,685 |
Is the genetic change at chromosome 2, position 178545640, within gene TTN benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TTCCCAAGTTATAGTCACAGAATCTCTTGATACTTCCTTAACTTTCACTGAAGGACAGGGACCAGGAGTATCTGAAAAACAGAATGAAAGATTCATATTTCCTATTTGCCTGATAGCTTTTTTTTTCTTGGGGAAATATAATCAACATAGTTCCTTTCTAGAGAGGTGATCAATCATAGGTCAAGCTATATTGTTTTAGAGGATCTACTCATTGTATAGCCAATTTTAAGTAAAATGCTTACCATAGACTTTAACAAGGACTGTTGCTGATTTCTTGCCAGATTGGTTTTCAGCTTCAATTGTGTATTTTCCAGCATCGT... | TTCCCAAGTTATAGTCACAGAATCTCTTGATACTTCCTTAACTTTCACTGAAGGACAGGGACCAGGAGTATCTGAAAAACAGAATGAAAGATTCATATTTCCTATTTGCCTGATAGCTTTTTTTTTCTTGGGGAAATATAATCAACATAGTTCCTTTCTAGAGAGGTGATCAATCATAGGTCAAGCTATATTGTTTTAGAGGATCTACTCATTGTATAGCCAATTTTAAGTAAAATGCTTACCATAGACTTTAACAAGGACTGTTGCTGATTTCTTGCCAGATTGGTTTTCAGCTTCAATTGTGTATTTTCCAGCATCGT... | pathogenic | 47,704 |
A mutation at chromosome position 178545969 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'] | CTTTGTCCACTATTAGCAATGAGTAGCTCTCAGTGGTGTCAATAATTGCCCGGCTTGCAAGGTCAATGCCCTGCTTGCTCCACGTTATGACAGGAGGTGGTCTTCCAGATACAGACACCATCAAGCGCAAGGAGGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCT... | CTTTGTCCACTATTAGCAATGAGTAGCTCTCAGTGGTGTCAATAATTGCCCGGCTTGCAAGGTCAATGCCCTGCTTGCTCCACGTTATGACAGGAGGTGGTCTTCCAGATACAGACACCATCAAGCGCAAGGAGGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCT... | pathogenic | 47,715 |
Clinical classification of chromosome 2, position 178546255, gene TTN: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G'] | TTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTGTCCTTCTCTTGCATTTCCAGAACATATCCTACAATGTCAGTACCACCATCGTACATGGGTTTGGTCCATGCCAAACTAATGCTGTGTTTGGTGGTATCCACAACTCTTGGAGCAGAAGGTGGTCCAGGGGTATCTGTGGAATTTAAAAAGTGA... | TTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTGTCCTTCTCTTGCATTTCCAGAACATATCCTACAATGTCAGTACCACCATCGTACATGGGTTTGGTCCATGCCAAACTAATGCTGTGTTTGGTGGTATCCACAACTCTTGGAGCAGAAGGTGGTCCAGGGGTATCTGTGGAATTTAAAAAGTGA... | pathogenic | 47,724 |
Is the genetic change at chromosome 2, position 178546306, 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'] | TCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTGTCCTTCTCTTGCATTTCCAGAACATATCCTACAATGTCAGTACCACCATCGTACATGGGTTTGGTCCATGCCAAACTAATGCTGTGTTTGGTGGTATCCACAACTCTTGGAGCAGAAGGTGGTCCAGGGGTATCTGTGGAATTTAAAAAGTGAGATGCAGATATTAGGCAAATAAGGAAATGTTGAGATTTGTATTTTTTGTTT... | TCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTGTCCTTCTCTTGCATTTCCAGAACATATCCTACAATGTCAGTACCACCATCGTACATGGGTTTGGTCCATGCCAAACTAATGCTGTGTTTGGTGGTATCCACAACTCTTGGAGCAGAAGGTGGTCCAGGGGTATCTGTGGAATTTAAAAAGTGAGATGCAGATATTAGGCAAATAAGGAAATGTTGAGATTTGTATTTTTTGTTT... | pathogenic | 47,728 |
Is the variant located on chromosome 2 at position 178546426, 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_dilated_cardiomyopathy'] | TCTCTTGCATTTCCAGAACATATCCTACAATGTCAGTACCACCATCGTACATGGGTTTGGTCCATGCCAAACTAATGCTGTGTTTGGTGGTATCCACAACTCTTGGAGCAGAAGGTGGTCCAGGGGTATCTGTGGAATTTAAAAAGTGAGATGCAGATATTAGGCAAATAAGGAAATGTTGAGATTTGTATTTTTTGTTTTCAAGACTCACAAAGGCATTATTGCTCTTGTCCACACTCACCAAGATAATCTTTATTAACTGGGCTCCTGATATTATAGGACAGCACAGAGTGCCACATTATAATTTAATATTATTATCT... | TCTCTTGCATTTCCAGAACATATCCTACAATGTCAGTACCACCATCGTACATGGGTTTGGTCCATGCCAAACTAATGCTGTGTTTGGTGGTATCCACAACTCTTGGAGCAGAAGGTGGTCCAGGGGTATCTGTGGAATTTAAAAAGTGAGATGCAGATATTAGGCAAATAAGGAAATGTTGAGATTTGTATTTTTTGTTTTCAAGACTCACAAAGGCATTATTGCTCTTGTCCACACTCACCAAGATAATCTTTATTAACTGGGCTCCTGATATTATAGGACAGCACAGAGTGCCACATTATAATTTAATATTATTATCT... | pathogenic | 47,733 |
Chromosome 2, position 178546621, 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', 'Primary_dilated_cardiomyopathy'] | TGTTTTCAAGACTCACAAAGGCATTATTGCTCTTGTCCACACTCACCAAGATAATCTTTATTAACTGGGCTCCTGATATTATAGGACAGCACAGAGTGCCACATTATAATTTAATATTATTATCTTAAGAATTAAATTGCTTTAGGAAAGTAGATATTTCTTCCCTACTTCTTTGGCCAGCTTTACTGTGTGTTCTCTATTAGCTAAGCTCATTACTTAAAGTACCCATTCTTAGGGACTTTTCTTTAGTTGCTTATCTTTCACTGGGTTAGTATCACTTGCCACCAATACATTTCTAATGAATACAAGAATTGGTTTCC... | TGTTTTCAAGACTCACAAAGGCATTATTGCTCTTGTCCACACTCACCAAGATAATCTTTATTAACTGGGCTCCTGATATTATAGGACAGCACAGAGTGCCACATTATAATTTAATATTATTATCTTAAGAATTAAATTGCTTTAGGAAAGTAGATATTTCTTCCCTACTTCTTTGGCCAGCTTTACTGTGTGTTCTCTATTAGCTAAGCTCATTACTTAAAGTACCCATTCTTAGGGACTTTTCTTTAGTTGCTTATCTTTCACTGGGTTAGTATCACTTGCCACCAATACATTTCTAATGAATACAAGAATTGGTTTCC... | pathogenic | 47,742 |
Variant in TTN, chromosome 2, position 178547177—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | GATTCTTTTCATATTGATAGAATATTTTTTCATTAATTGGAAAATGCTGTACAACTTTTAGCAATTCTAATTGCTAACTTAACAGATGTAATAGTTAAAATGTTCTCTGACTTAAGCTATATTTATGATCATGCAAATAAGCATGTGCTTTTCTAGACCATTCATAAATTCTAAAAATTCTTAGAGATTGTGTGTTGGAAAATTATCTGTCATATAGTTTTGAGGAGCATTGTATTTATGTATGATTCTTGGAGCTCACATGATGGTTCTCTGCATGAGATGAAGTTGGAAGCTTCGCTGGGCTCACTGTTACCAGCTGC... | GATTCTTTTCATATTGATAGAATATTTTTTCATTAATTGGAAAATGCTGTACAACTTTTAGCAATTCTAATTGCTAACTTAACAGATGTAATAGTTAAAATGTTCTCTGACTTAAGCTATATTTATGATCATGCAAATAAGCATGTGCTTTTCTAGACCATTCATAAATTCTAAAAATTCTTAGAGATTGTGTGTTGGAAAATTATCTGTCATATAGTTTTGAGGAGCATTGTATTTATGTATGATTCTTGGAGCTCACATGATGGTTCTCTGCATGAGATGAAGTTGGAAGCTTCGCTGGGCTCACTGTTACCAGCTGC... | pathogenic | 47,766 |
Regarding the variant at chromosome 2 and position 178547446, 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', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Primary_dilated_cardiomyopathy', 'Tibial_mu... | TCTGCATGAGATGAAGTTGGAAGCTTCGCTGGGCTCACTGTTACCAGCTGCATTCACTGCGGTCACCCGGAACTGGTAATCACAACCCTCCATCAGGCTGGTCACCTTCAGCCTGGTATCATACACCACATAGTCTTTGTTGACACGTGTCCAGCGCAGGCTCTTCTTCTCACGTTTGTCTACTAGGTAGTTGCTGATTTCATTGCCACCATCAGATTCAGGTTTTGTCCACTGAATGATGATATGCTCTTTGCCAGTCCCAACTTCTTCAGGTATGCCGGGTGGTGATGGAATAGCTGTTTATGAAAATAAGGATGATG... | TCTGCATGAGATGAAGTTGGAAGCTTCGCTGGGCTCACTGTTACCAGCTGCATTCACTGCGGTCACCCGGAACTGGTAATCACAACCCTCCATCAGGCTGGTCACCTTCAGCCTGGTATCATACACCACATAGTCTTTGTTGACACGTGTCCAGCGCAGGCTCTTCTTCTCACGTTTGTCTACTAGGTAGTTGCTGATTTCATTGCCACCATCAGATTCAGGTTTTGTCCACTGAATGATGATATGCTCTTTGCCAGTCCCAACTTCTTCAGGTATGCCGGGTGGTGATGGAATAGCTGTTTATGAAAATAAGGATGATG... | pathogenic | 47,772 |
A genetic alteration at chromosome 2, position 178547458, 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'] | GAAGTTGGAAGCTTCGCTGGGCTCACTGTTACCAGCTGCATTCACTGCGGTCACCCGGAACTGGTAATCACAACCCTCCATCAGGCTGGTCACCTTCAGCCTGGTATCATACACCACATAGTCTTTGTTGACACGTGTCCAGCGCAGGCTCTTCTTCTCACGTTTGTCTACTAGGTAGTTGCTGATTTCATTGCCACCATCAGATTCAGGTTTTGTCCACTGAATGATGATATGCTCTTTGCCAGTCCCAACTTCTTCAGGTATGCCGGGTGGTGATGGAATAGCTGTTTATGAAAATAAGGATGATGAGAATTGCACAA... | GAAGTTGGAAGCTTCGCTGGGCTCACTGTTACCAGCTGCATTCACTGCGGTCACCCGGAACTGGTAATCACAACCCTCCATCAGGCTGGTCACCTTCAGCCTGGTATCATACACCACATAGTCTTTGTTGACACGTGTCCAGCGCAGGCTCTTCTTCTCACGTTTGTCTACTAGGTAGTTGCTGATTTCATTGCCACCATCAGATTCAGGTTTTGTCCACTGAATGATGATATGCTCTTTGCCAGTCCCAACTTCTTCAGGTATGCCGGGTGGTGATGGAATAGCTGTTTATGAAAATAAGGATGATGAGAATTGCACAA... | pathogenic | 47,773 |
Determine if the mutation at chromosome 2, position 178547518 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', 'Mitral_valve_prolapse'] | CTGGTAATCACAACCCTCCATCAGGCTGGTCACCTTCAGCCTGGTATCATACACCACATAGTCTTTGTTGACACGTGTCCAGCGCAGGCTCTTCTTCTCACGTTTGTCTACTAGGTAGTTGCTGATTTCATTGCCACCATCAGATTCAGGTTTTGTCCACTGAATGATGATATGCTCTTTGCCAGTCCCAACTTCTTCAGGTATGCCGGGTGGTGATGGAATAGCTGTTTATGAAAATAAGGATGATGAGAATTGCACAAAATTACTATTGATAAGACTGCCCTTCTCCCTTCTCCCCCTGATTCTATTACATTTCAACT... | CTGGTAATCACAACCCTCCATCAGGCTGGTCACCTTCAGCCTGGTATCATACACCACATAGTCTTTGTTGACACGTGTCCAGCGCAGGCTCTTCTTCTCACGTTTGTCTACTAGGTAGTTGCTGATTTCATTGCCACCATCAGATTCAGGTTTTGTCCACTGAATGATGATATGCTCTTTGCCAGTCCCAACTTCTTCAGGTATGCCGGGTGGTGATGGAATAGCTGTTTATGAAAATAAGGATGATGAGAATTGCACAAAATTACTATTGATAAGACTGCCCTTCTCCCTTCTCCCCCTGATTCTATTACATTTCAACT... | pathogenic | 47,774 |
Does the variant on chromosome 2 at location 178547728 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', 'Primary_dilated_cardiomyopathy'] | TGGTGATGGAATAGCTGTTTATGAAAATAAGGATGATGAGAATTGCACAAAATTACTATTGATAAGACTGCCCTTCTCCCTTCTCCCCCTGATTCTATTACATTTCAACTGTCAAATTATTTAAAAGTGTTAATACTTACTGAATGAGTTTCTGGCTACAATTGGCTCTGATTCAACAGGCACACCAGGGCCATATTTGTTTACTGCCCTCACTCGGAATATGTACTCATTGTTCTTGATGAGCCTGGTAACGACATAGGATAGGGTTGGGCATTCGCCTTCAACAATCACCCAGTTGAGCCTGCTAGTCTCGCGTCTTT... | TGGTGATGGAATAGCTGTTTATGAAAATAAGGATGATGAGAATTGCACAAAATTACTATTGATAAGACTGCCCTTCTCCCTTCTCCCCCTGATTCTATTACATTTCAACTGTCAAATTATTTAAAAGTGTTAATACTTACTGAATGAGTTTCTGGCTACAATTGGCTCTGATTCAACAGGCACACCAGGGCCATATTTGTTTACTGCCCTCACTCGGAATATGTACTCATTGTTCTTGATGAGCCTGGTAACGACATAGGATAGGGTTGGGCATTCGCCTTCAACAATCACCCAGTTGAGCCTGCTAGTCTCGCGTCTTT... | pathogenic | 47,785 |
A genetic variant at chromosome 2, position 178547890, affecting gene TTN—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TGGCTCTGATTCAACAGGCACACCAGGGCCATATTTGTTTACTGCCCTCACTCGGAATATGTACTCATTGTTCTTGATGAGCCTGGTAACGACATAGGATAGGGTTGGGCATTCGCCTTCAACAATCACCCAGTTGAGCCTGCTAGTCTCGCGTCTTTCCACGATGTAGTGAGTGATTTCTGCTCCTCCGTCTTCCTGCGGAAGGCTCCAGGCTAAAGTGCACTTCTCCTGTGTTACTCTGCTGACGGTGAGCTTTCCACATGGGCCAGGGGAATCTGAAACAGGTGTAATGACAAGCCATGATGAAGATCATTCTTTCT... | TGGCTCTGATTCAACAGGCACACCAGGGCCATATTTGTTTACTGCCCTCACTCGGAATATGTACTCATTGTTCTTGATGAGCCTGGTAACGACATAGGATAGGGTTGGGCATTCGCCTTCAACAATCACCCAGTTGAGCCTGCTAGTCTCGCGTCTTTCCACGATGTAGTGAGTGATTTCTGCTCCTCCGTCTTCCTGCGGAAGGCTCCAGGCTAAAGTGCACTTCTCCTGTGTTACTCTGCTGACGGTGAGCTTTCCACATGGGCCAGGGGAATCTGAAACAGGTGTAATGACAAGCCATGATGAAGATCATTCTTTCT... | pathogenic | 47,789 |
The chromosome 2, position 178547984 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'] | TAGGATAGGGTTGGGCATTCGCCTTCAACAATCACCCAGTTGAGCCTGCTAGTCTCGCGTCTTTCCACGATGTAGTGAGTGATTTCTGCTCCTCCGTCTTCCTGCGGAAGGCTCCAGGCTAAAGTGCACTTCTCCTGTGTTACTCTGCTGACGGTGAGCTTTCCACATGGGCCAGGGGAATCTGAAACAGGTGTAATGACAAGCCATGATGAAGATCATTCTTTCTGCCCACACTGGAAAATGCTATATAAATGTGAGAACATTTGACATGCTTACCAAGCACTTTGACCATGACAGACACGGCCTTGGTCCCGCTGGCA... | TAGGATAGGGTTGGGCATTCGCCTTCAACAATCACCCAGTTGAGCCTGCTAGTCTCGCGTCTTTCCACGATGTAGTGAGTGATTTCTGCTCCTCCGTCTTCCTGCGGAAGGCTCCAGGCTAAAGTGCACTTCTCCTGTGTTACTCTGCTGACGGTGAGCTTTCCACATGGGCCAGGGGAATCTGAAACAGGTGTAATGACAAGCCATGATGAAGATCATTCTTTCTGCCCACACTGGAAAATGCTATATAAATGTGAGAACATTTGACATGCTTACCAAGCACTTTGACCATGACAGACACGGCCTTGGTCCCGCTGGCA... | pathogenic | 47,794 |
Does the chromosome 2 mutation at position 178548225 within gene TTN classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TGCTATATAAATGTGAGAACATTTGACATGCTTACCAAGCACTTTGACCATGACAGACACGGCCTTGGTCCCGCTGGCATTTTTCACTGTTAAAGTGTATTTTCCACTGTCACTTCTGTCACAGAACTTGATCACAGCAGTTGCTCGTTTGCCAGTATACTGCAAAGAGACTTTTTCACAGAGATCTAGCTCCTTGTCTCCTTTGGTCCAGATAATTTTGGGTTCAGGTTTGCCACCAACTGCAGCATCCAGAACAAGATCAGAACCTGCTCTGATGGTAACCAGATCACCGTGTAATCGGGCATCCAGTTCGGCTTTGG... | TGCTATATAAATGTGAGAACATTTGACATGCTTACCAAGCACTTTGACCATGACAGACACGGCCTTGGTCCCGCTGGCATTTTTCACTGTTAAAGTGTATTTTCCACTGTCACTTCTGTCACAGAACTTGATCACAGCAGTTGCTCGTTTGCCAGTATACTGCAAAGAGACTTTTTCACAGAGATCTAGCTCCTTGTCTCCTTTGGTCCAGATAATTTTGGGTTCAGGTTTGCCACCAACTGCAGCATCCAGAACAAGATCAGAACCTGCTCTGATGGTAACCAGATCACCGTGTAATCGGGCATCCAGTTCGGCTTTGG... | pathogenic | 47,812 |
Is the genetic variant on chromosome 2, position 178548966, 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'] | CAAAAATAAGGTTAAAATATACCACTCTGAGTTCTACTAGAATCAGTAATAATAAACAAATATGCCCTTAAATTGTGATACATACCAACTGGATTTTGAGCCATTATAGGTCTTGAAGCTTCGCTGGCCTTGCTAACACCTGCAGCATTGAGTGCATAAGTTCTGAACTGATATTCCAGTCCTTCTACTAAACCAGTTACTTTGTAGTTGCACTCTAAGCATGGCACTTTGTTTTCTTTCACCCAAAGAATTGTATTACGTTCTTTCTTCTCAACCCAGTAGCCAATGATTTTACTGCCACCATCGTGGTAGGGTTCTTC... | CAAAAATAAGGTTAAAATATACCACTCTGAGTTCTACTAGAATCAGTAATAATAAACAAATATGCCCTTAAATTGTGATACATACCAACTGGATTTTGAGCCATTATAGGTCTTGAAGCTTCGCTGGCCTTGCTAACACCTGCAGCATTGAGTGCATAAGTTCTGAACTGATATTCCAGTCCTTCTACTAAACCAGTTACTTTGTAGTTGCACTCTAAGCATGGCACTTTGTTTTCTTTCACCCAAAGAATTGTATTACGTTCTTTCTTCTCAACCCAGTAGCCAATGATTTTACTGCCACCATCGTGGTAGGGTTCTTC... | pathogenic | 47,845 |
Is chromosome 2, position 178548994, gene TTN variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'TTN-related_disorder'] | GAGTTCTACTAGAATCAGTAATAATAAACAAATATGCCCTTAAATTGTGATACATACCAACTGGATTTTGAGCCATTATAGGTCTTGAAGCTTCGCTGGCCTTGCTAACACCTGCAGCATTGAGTGCATAAGTTCTGAACTGATATTCCAGTCCTTCTACTAAACCAGTTACTTTGTAGTTGCACTCTAAGCATGGCACTTTGTTTTCTTTCACCCAAAGAATTGTATTACGTTCTTTCTTCTCAACCCAGTAGCCAATGATTTTACTGCCACCATCGTGGTAGGGTTCTTCCCAACGAATAGACATGGCATTGGCAGAC... | GAGTTCTACTAGAATCAGTAATAATAAACAAATATGCCCTTAAATTGTGATACATACCAACTGGATTTTGAGCCATTATAGGTCTTGAAGCTTCGCTGGCCTTGCTAACACCTGCAGCATTGAGTGCATAAGTTCTGAACTGATATTCCAGTCCTTCTACTAAACCAGTTACTTTGTAGTTGCACTCTAAGCATGGCACTTTGTTTTCTTTCACCCAAAGAATTGTATTACGTTCTTTCTTCTCAACCCAGTAGCCAATGATTTTACTGCCACCATCGTGGTAGGGTTCTTCCCAACGAATAGACATGGCATTGGCAGAC... | pathogenic | 47,848 |
The chromosome 2, position 178549055 genetic variant in gene TTN: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'TTN-related_disorder'] | TGGATTTTGAGCCATTATAGGTCTTGAAGCTTCGCTGGCCTTGCTAACACCTGCAGCATTGAGTGCATAAGTTCTGAACTGATATTCCAGTCCTTCTACTAAACCAGTTACTTTGTAGTTGCACTCTAAGCATGGCACTTTGTTTTCTTTCACCCAAAGAATTGTATTACGTTCTTTCTTCTCAACCCAGTAGCCAATGATTTTACTGCCACCATCGTGGTAGGGTTCTTCCCAACGAATAGACATGGCATTGGCAGACACATGGTAGACCTCAGGTCTGGTAGGAGCGCTTGGTGGGACTAAATATAAACAAAGGTATT... | TGGATTTTGAGCCATTATAGGTCTTGAAGCTTCGCTGGCCTTGCTAACACCTGCAGCATTGAGTGCATAAGTTCTGAACTGATATTCCAGTCCTTCTACTAAACCAGTTACTTTGTAGTTGCACTCTAAGCATGGCACTTTGTTTTCTTTCACCCAAAGAATTGTATTACGTTCTTTCTTCTCAACCCAGTAGCCAATGATTTTACTGCCACCATCGTGGTAGGGTTCTTCCCAACGAATAGACATGGCATTGGCAGACACATGGTAGACCTCAGGTCTGGTAGGAGCGCTTGGTGGGACTAAATATAAACAAAGGTATT... | pathogenic | 47,850 |
Mutation found at chromosome 2 position 178549337, 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', 'Primary_dilated_cardiomyopathy'] | AGGAGCGCTTGGTGGGACTAAATATAAACAAAGGTATTAAGTATGAATACAATTTTATAAAATTCAGGGGAAACATTTAATAATAGAGACTTTGAAATAGGATTTTTATTTTTCTTACCAAATGGATGTTCAGCAATTATTGGTGCTGATTCTAGAGGTTTGCTGACACCAAATCTGTTCTCTGAACTGACACGGAAAGAATATTCCATGTATTTTGTGAGATGAGTGACTTTAATTTGAGTGCGCTTGACACTGGAATTGACAAGCTGCCAAGCTGTTGTACCCGATTCACGCTTTTCAACTATGTAATTAGTAATTTC... | AGGAGCGCTTGGTGGGACTAAATATAAACAAAGGTATTAAGTATGAATACAATTTTATAAAATTCAGGGGAAACATTTAATAATAGAGACTTTGAAATAGGATTTTTATTTTTCTTACCAAATGGATGTTCAGCAATTATTGGTGCTGATTCTAGAGGTTTGCTGACACCAAATCTGTTCTCTGAACTGACACGGAAAGAATATTCCATGTATTTTGTGAGATGAGTGACTTTAATTTGAGTGCGCTTGACACTGGAATTGACAAGCTGCCAAGCTGTTGTACCCGATTCACGCTTTTCAACTATGTAATTAGTAATTTC... | pathogenic | 47,862 |
A genetic variant on chromosome 2, position 178549388, 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', 'Dilated_cardiomyopathy_1G'] | ATTTTATAAAATTCAGGGGAAACATTTAATAATAGAGACTTTGAAATAGGATTTTTATTTTTCTTACCAAATGGATGTTCAGCAATTATTGGTGCTGATTCTAGAGGTTTGCTGACACCAAATCTGTTCTCTGAACTGACACGGAAAGAATATTCCATGTATTTTGTGAGATGAGTGACTTTAATTTGAGTGCGCTTGACACTGGAATTGACAAGCTGCCAAGCTGTTGTACCCGATTCACGCTTTTCAACTATGTAATTAGTAATTTCAGTGCCTCCTCCATCTTTAGGTTCTCCCCATGACAGGACACACGATTCAGC... | ATTTTATAAAATTCAGGGGAAACATTTAATAATAGAGACTTTGAAATAGGATTTTTATTTTTCTTACCAAATGGATGTTCAGCAATTATTGGTGCTGATTCTAGAGGTTTGCTGACACCAAATCTGTTCTCTGAACTGACACGGAAAGAATATTCCATGTATTTTGTGAGATGAGTGACTTTAATTTGAGTGCGCTTGACACTGGAATTGACAAGCTGCCAAGCTGTTGTACCCGATTCACGCTTTTCAACTATGTAATTAGTAATTTCAGTGCCTCCTCCATCTTTAGGTTCTCCCCATGACAGGACACACGATTCAGC... | pathogenic | 47,865 |
A mutation at chromosome position 178549846 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', 'Primary_dilated_cardiomyopathy'] | CTTTACAGTCAGTGTGGTTCTGTCTTTTGTTGTTGTAATGCTCACTCGATCTGTCTCTTTAAGTCTCATTTCTTCCAGTTTCCATGTTACTTTGGGGGCAGGACGACCACTGATTGGTACGTCAATGGTAAATGGGCTTCCTGCTTTGCAAGTTATAAGCTGATTGGTAATTCCAGTGAGGTCAGCAGTGGGCTCGATTTGAGGCTCCTTAATGATGACAGAAGAGAAGGCTTCTCTGGGTTCACTATAGCCAGCATCATTCTTGGCCTTCACACGGAATTCATATTCAGTTTTCTCAACAAGACGCTCTACTGTGAAAG... | CTTTACAGTCAGTGTGGTTCTGTCTTTTGTTGTTGTAATGCTCACTCGATCTGTCTCTTTAAGTCTCATTTCTTCCAGTTTCCATGTTACTTTGGGGGCAGGACGACCACTGATTGGTACGTCAATGGTAAATGGGCTTCCTGCTTTGCAAGTTATAAGCTGATTGGTAATTCCAGTGAGGTCAGCAGTGGGCTCGATTTGAGGCTCCTTAATGATGACAGAAGAGAAGGCTTCTCTGGGTTCACTATAGCCAGCATCATTCTTGGCCTTCACACGGAATTCATATTCAGTTTTCTCAACAAGACGCTCTACTGTGAAAG... | pathogenic | 47,879 |
Benign or pathogenic: chromosome 2, position 178549862, gene TTN variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | GTTCTGTCTTTTGTTGTTGTAATGCTCACTCGATCTGTCTCTTTAAGTCTCATTTCTTCCAGTTTCCATGTTACTTTGGGGGCAGGACGACCACTGATTGGTACGTCAATGGTAAATGGGCTTCCTGCTTTGCAAGTTATAAGCTGATTGGTAATTCCAGTGAGGTCAGCAGTGGGCTCGATTTGAGGCTCCTTAATGATGACAGAAGAGAAGGCTTCTCTGGGTTCACTATAGCCAGCATCATTCTTGGCCTTCACACGGAATTCATATTCAGTTTTCTCAACAAGACGCTCTACTGTGAAAGTTAGCTGTTTGGTGTG... | GTTCTGTCTTTTGTTGTTGTAATGCTCACTCGATCTGTCTCTTTAAGTCTCATTTCTTCCAGTTTCCATGTTACTTTGGGGGCAGGACGACCACTGATTGGTACGTCAATGGTAAATGGGCTTCCTGCTTTGCAAGTTATAAGCTGATTGGTAATTCCAGTGAGGTCAGCAGTGGGCTCGATTTGAGGCTCCTTAATGATGACAGAAGAGAAGGCTTCTCTGGGTTCACTATAGCCAGCATCATTCTTGGCCTTCACACGGAATTCATATTCAGTTTTCTCAACAAGACGCTCTACTGTGAAAGTTAGCTGTTTGGTGTG... | pathogenic | 47,880 |
Variant in gene TTN, located at chromosome 2 position 178549998: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy', 'Primary_familial_dilated_cardiomyopathy'] | TTATAAGCTGATTGGTAATTCCAGTGAGGTCAGCAGTGGGCTCGATTTGAGGCTCCTTAATGATGACAGAAGAGAAGGCTTCTCTGGGTTCACTATAGCCAGCATCATTCTTGGCCTTCACACGGAATTCATATTCAGTTTTCTCAACAAGACGCTCTACTGTGAAAGTTAGCTGTTTGGTGTGACCAGCTTCAACCCAGAAGTCAGATCCCTTTTGTCTCATTTCAAGCAGGTAGCCAGTGATCCGGCTGCCTCCATCGTGGTCAGGTTTAAGCCAAGCTAAGACTGCGGAGGATTTGCTAGTATCAACAACATCAAGT... | TTATAAGCTGATTGGTAATTCCAGTGAGGTCAGCAGTGGGCTCGATTTGAGGCTCCTTAATGATGACAGAAGAGAAGGCTTCTCTGGGTTCACTATAGCCAGCATCATTCTTGGCCTTCACACGGAATTCATATTCAGTTTTCTCAACAAGACGCTCTACTGTGAAAGTTAGCTGTTTGGTGTGACCAGCTTCAACCCAGAAGTCAGATCCCTTTTGTCTCATTTCAAGCAGGTAGCCAGTGATCCGGCTGCCTCCATCGTGGTCAGGTTTAAGCCAAGCTAAGACTGCGGAGGATTTGCTAGTATCAACAACATCAAGT... | pathogenic | 47,883 |
Benign or pathogenic: chromosome 2, position 178550039, gene TTN variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TCGATTTGAGGCTCCTTAATGATGACAGAAGAGAAGGCTTCTCTGGGTTCACTATAGCCAGCATCATTCTTGGCCTTCACACGGAATTCATATTCAGTTTTCTCAACAAGACGCTCTACTGTGAAAGTTAGCTGTTTGGTGTGACCAGCTTCAACCCAGAAGTCAGATCCCTTTTGTCTCATTTCAAGCAGGTAGCCAGTGATCCGGCTGCCTCCATCGTGGTCAGGTTTAAGCCAAGCTAAGACTGCGGAGGATTTGCTAGTATCAACAACATCAAGTCTCCTAGGTGGAGCAGGCTGTTCTGTGGCTACAATTGGTTC... | TCGATTTGAGGCTCCTTAATGATGACAGAAGAGAAGGCTTCTCTGGGTTCACTATAGCCAGCATCATTCTTGGCCTTCACACGGAATTCATATTCAGTTTTCTCAACAAGACGCTCTACTGTGAAAGTTAGCTGTTTGGTGTGACCAGCTTCAACCCAGAAGTCAGATCCCTTTTGTCTCATTTCAAGCAGGTAGCCAGTGATCCGGCTGCCTCCATCGTGGTCAGGTTTAAGCCAAGCTAAGACTGCGGAGGATTTGCTAGTATCAACAACATCAAGTCTCCTAGGTGGAGCAGGCTGTTCTGTGGCTACAATTGGTTC... | pathogenic | 47,886 |
The chromosome 2, position 178550046 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'] | GAGGCTCCTTAATGATGACAGAAGAGAAGGCTTCTCTGGGTTCACTATAGCCAGCATCATTCTTGGCCTTCACACGGAATTCATATTCAGTTTTCTCAACAAGACGCTCTACTGTGAAAGTTAGCTGTTTGGTGTGACCAGCTTCAACCCAGAAGTCAGATCCCTTTTGTCTCATTTCAAGCAGGTAGCCAGTGATCCGGCTGCCTCCATCGTGGTCAGGTTTAAGCCAAGCTAAGACTGCGGAGGATTTGCTAGTATCAACAACATCAAGTCTCCTAGGTGGAGCAGGCTGTTCTGTGGCTACAATTGGTTCTGGCATT... | GAGGCTCCTTAATGATGACAGAAGAGAAGGCTTCTCTGGGTTCACTATAGCCAGCATCATTCTTGGCCTTCACACGGAATTCATATTCAGTTTTCTCAACAAGACGCTCTACTGTGAAAGTTAGCTGTTTGGTGTGACCAGCTTCAACCCAGAAGTCAGATCCCTTTTGTCTCATTTCAAGCAGGTAGCCAGTGATCCGGCTGCCTCCATCGTGGTCAGGTTTAAGCCAAGCTAAGACTGCGGAGGATTTGCTAGTATCAACAACATCAAGTCTCCTAGGTGGAGCAGGCTGTTCTGTGGCTACAATTGGTTCTGGCATT... | pathogenic | 47,887 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 178550122, gene TTN: what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | GAATTCATATTCAGTTTTCTCAACAAGACGCTCTACTGTGAAAGTTAGCTGTTTGGTGTGACCAGCTTCAACCCAGAAGTCAGATCCCTTTTGTCTCATTTCAAGCAGGTAGCCAGTGATCCGGCTGCCTCCATCGTGGTCAGGTTTAAGCCAAGCTAAGACTGCGGAGGATTTGCTAGTATCAACAACATCAAGTCTCCTAGGTGGAGCAGGCTGTTCTGTGGCTACAATTGGTTCTGGCATTTCATAGGGCTCACCAACACCATACTCATTTACTGCAGAAACACGGAAATAGTACGGAACACCTTCGGCCAGGTCAT... | GAATTCATATTCAGTTTTCTCAACAAGACGCTCTACTGTGAAAGTTAGCTGTTTGGTGTGACCAGCTTCAACCCAGAAGTCAGATCCCTTTTGTCTCATTTCAAGCAGGTAGCCAGTGATCCGGCTGCCTCCATCGTGGTCAGGTTTAAGCCAAGCTAAGACTGCGGAGGATTTGCTAGTATCAACAACATCAAGTCTCCTAGGTGGAGCAGGCTGTTCTGTGGCTACAATTGGTTCTGGCATTTCATAGGGCTCACCAACACCATACTCATTTACTGCAGAAACACGGAAATAGTACGGAACACCTTCGGCCAGGTCAT... | pathogenic | 47,890 |
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