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 |
|---|---|---|---|---|---|
Mutation at chromosome 2, position 178551084, 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'] | CGGCCTTACACATTTCAATAATATACCCAATTATTTCCATGCCACCATCAAACACTGGTTTGGACCATTCTAAGCTCACAGTTGTCTTTGATGTGTCTGTTACTTTGACCACTGTGGGAGGACCTGGTGGGTTGACGGGCTCTCTACATTTAATGAGTCTTGAGATGCCACTTGCAGGTCCAACTCCTGCAGCATTTTCAGCCATGACATGGAATTCATACTCATTGCCTTCTGTCAGACCAGTGACTTTGAATCTTGTTTCAGAGATTGGTCGTTTGCTGATCACTTTTACCCATCTTGTGCTTTTCTTTTCTCTTCTT... | CGGCCTTACACATTTCAATAATATACCCAATTATTTCCATGCCACCATCAAACACTGGTTTGGACCATTCTAAGCTCACAGTTGTCTTTGATGTGTCTGTTACTTTGACCACTGTGGGAGGACCTGGTGGGTTGACGGGCTCTCTACATTTAATGAGTCTTGAGATGCCACTTGCAGGTCCAACTCCTGCAGCATTTTCAGCCATGACATGGAATTCATACTCATTGCCTTCTGTCAGACCAGTGACTTTGAATCTTGTTTCAGAGATTGGTCGTTTGCTGATCACTTTTACCCATCTTGTGCTTTTCTTTTCTCTTCTT... | pathogenic | 47,907 |
Variant in gene TTN, located at chromosome 2 position 178551188: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Primary_dilated_cardiomyopathy'] | TTGACCACTGTGGGAGGACCTGGTGGGTTGACGGGCTCTCTACATTTAATGAGTCTTGAGATGCCACTTGCAGGTCCAACTCCTGCAGCATTTTCAGCCATGACATGGAATTCATACTCATTGCCTTCTGTCAGACCAGTGACTTTGAATCTTGTTTCAGAGATTGGTCGTTTGCTGATCACTTTTACCCATCTTGTGCTTTTCTTTTCTCTTCTTTCAAGGATATACTGTTGAATTTCACTGCCACCATCTGATTCTGGCCTTGCCCATGTCAGGGTAATGCTGTTGCCTGTTATGTTGCTAGGTTCTGGAATGCCAGG... | TTGACCACTGTGGGAGGACCTGGTGGGTTGACGGGCTCTCTACATTTAATGAGTCTTGAGATGCCACTTGCAGGTCCAACTCCTGCAGCATTTTCAGCCATGACATGGAATTCATACTCATTGCCTTCTGTCAGACCAGTGACTTTGAATCTTGTTTCAGAGATTGGTCGTTTGCTGATCACTTTTACCCATCTTGTGCTTTTCTTTTCTCTTCTTTCAAGGATATACTGTTGAATTTCACTGCCACCATCTGATTCTGGCCTTGCCCATGTCAGGGTAATGCTGTTGCCTGTTATGTTGCTAGGTTCTGGAATGCCAGG... | pathogenic | 47,912 |
The mutation in gene TTN at chromosome 2, position 178551707—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'] | TTGCCGTTTATTAGTTTAATGGCAGTGTAACTTTGGGCTTCACATTTATCCTCAATTAGTGCCCAGGCAAGTCTGCTGGTTTCCCGTTTTTCAATGATGTAGTGGGTTATGGGAGCACAACCGTCATTGAGTGGGGCATCCCACCACAGAGTCATCTTCTCCCCAGTAATATTGGTGAATCTTATTGGCCCAACTACTTTTCCTGGTGTATCTATAAGAAAAAGTTTCTAGAGTTAGTTTCTTTTTCCTTGTCCATTAAAATACAACTAGGCATGTCTCTAATCCAAGTTCATAAATTGTAGCATTAAGAAGCTATTTTA... | TTGCCGTTTATTAGTTTAATGGCAGTGTAACTTTGGGCTTCACATTTATCCTCAATTAGTGCCCAGGCAAGTCTGCTGGTTTCCCGTTTTTCAATGATGTAGTGGGTTATGGGAGCACAACCGTCATTGAGTGGGGCATCCCACCACAGAGTCATCTTCTCCCCAGTAATATTGGTGAATCTTATTGGCCCAACTACTTTTCCTGGTGTATCTATAAGAAAAAGTTTCTAGAGTTAGTTTCTTTTTCCTTGTCCATTAAAATACAACTAGGCATGTCTCTAATCCAAGTTCATAAATTGTAGCATTAAGAAGCTATTTTA... | pathogenic | 47,919 |
Mutation at chromosome 2, position 178551799, within TTN: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | AATGATGTAGTGGGTTATGGGAGCACAACCGTCATTGAGTGGGGCATCCCACCACAGAGTCATCTTCTCCCCAGTAATATTGGTGAATCTTATTGGCCCAACTACTTTTCCTGGTGTATCTATAAGAAAAAGTTTCTAGAGTTAGTTTCTTTTTCCTTGTCCATTAAAATACAACTAGGCATGTCTCTAATCCAAGTTCATAAATTGTAGCATTAAGAAGCTATTTTAAAAGTACCTTGTACTTTCACTTTAATTTCTGCTTTTGCAGAACCAGATGCATTTTTGGCTTCCACTGTGTATACACCACGATGGTCCCGAGT... | AATGATGTAGTGGGTTATGGGAGCACAACCGTCATTGAGTGGGGCATCCCACCACAGAGTCATCTTCTCCCCAGTAATATTGGTGAATCTTATTGGCCCAACTACTTTTCCTGGTGTATCTATAAGAAAAAGTTTCTAGAGTTAGTTTCTTTTTCCTTGTCCATTAAAATACAACTAGGCATGTCTCTAATCCAAGTTCATAAATTGTAGCATTAAGAAGCTATTTTAAAAGTACCTTGTACTTTCACTTTAATTTCTGCTTTTGCAGAACCAGATGCATTTTTGGCTTCCACTGTGTATACACCACGATGGTCCCGAGT... | pathogenic | 47,922 |
Clinically, how would you classify the variant at chromosome 2, position 178552242, 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'] | AGCTTTAATTCTAAGGCTCTCTCCGGACTTAATAATGAGACCATCAAAGTATTCAGGGCCAAACTCTACTATTGGTGGAACTATAAAAGAAAGAGAAATACTATGTATTAGTTTGGCTTAATAAAGACATACATAAATATATATTTTTCAGTAGTGCCATATCACAAGGCCAGGAAGAGTAGTGACTTCTACTGTGCTACCAAAGCCTATTTTGAAAGTAGGATTGATAATTGAGAATTTGGACTATGGGGTTAAATATTTGCCTATTATTATTCCCTTTGTAATGCCTGTCATGTTTTTAATTTTGCATTGCTCTTTGT... | AGCTTTAATTCTAAGGCTCTCTCCGGACTTAATAATGAGACCATCAAAGTATTCAGGGCCAAACTCTACTATTGGTGGAACTATAAAAGAAAGAGAAATACTATGTATTAGTTTGGCTTAATAAAGACATACATAAATATATATTTTTCAGTAGTGCCATATCACAAGGCCAGGAAGAGTAGTGACTTCTACTGTGCTACCAAAGCCTATTTTGAAAGTAGGATTGATAATTGAGAATTTGGACTATGGGGTTAAATATTTGCCTATTATTATTCCCTTTGTAATGCCTGTCATGTTTTTAATTTTGCATTGCTCTTTGT... | pathogenic | 47,941 |
Is the genetic variant on chromosome 2, position 178552245, gene TTN, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TTTAATTCTAAGGCTCTCTCCGGACTTAATAATGAGACCATCAAAGTATTCAGGGCCAAACTCTACTATTGGTGGAACTATAAAAGAAAGAGAAATACTATGTATTAGTTTGGCTTAATAAAGACATACATAAATATATATTTTTCAGTAGTGCCATATCACAAGGCCAGGAAGAGTAGTGACTTCTACTGTGCTACCAAAGCCTATTTTGAAAGTAGGATTGATAATTGAGAATTTGGACTATGGGGTTAAATATTTGCCTATTATTATTCCCTTTGTAATGCCTGTCATGTTTTTAATTTTGCATTGCTCTTTGTAAA... | TTTAATTCTAAGGCTCTCTCCGGACTTAATAATGAGACCATCAAAGTATTCAGGGCCAAACTCTACTATTGGTGGAACTATAAAAGAAAGAGAAATACTATGTATTAGTTTGGCTTAATAAAGACATACATAAATATATATTTTTCAGTAGTGCCATATCACAAGGCCAGGAAGAGTAGTGACTTCTACTGTGCTACCAAAGCCTATTTTGAAAGTAGGATTGATAATTGAGAATTTGGACTATGGGGTTAAATATTTGCCTATTATTATTCCCTTTGTAATGCCTGTCATGTTTTTAATTTTGCATTGCTCTTTGTAAA... | pathogenic | 47,942 |
Variant at chromosome 2, position 178552271, 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'] | TAATAATGAGACCATCAAAGTATTCAGGGCCAAACTCTACTATTGGTGGAACTATAAAAGAAAGAGAAATACTATGTATTAGTTTGGCTTAATAAAGACATACATAAATATATATTTTTCAGTAGTGCCATATCACAAGGCCAGGAAGAGTAGTGACTTCTACTGTGCTACCAAAGCCTATTTTGAAAGTAGGATTGATAATTGAGAATTTGGACTATGGGGTTAAATATTTGCCTATTATTATTCCCTTTGTAATGCCTGTCATGTTTTTAATTTTGCATTGCTCTTTGTAAAAAGGAAAGTGAAACATTTACAGATCA... | TAATAATGAGACCATCAAAGTATTCAGGGCCAAACTCTACTATTGGTGGAACTATAAAAGAAAGAGAAATACTATGTATTAGTTTGGCTTAATAAAGACATACATAAATATATATTTTTCAGTAGTGCCATATCACAAGGCCAGGAAGAGTAGTGACTTCTACTGTGCTACCAAAGCCTATTTTGAAAGTAGGATTGATAATTGAGAATTTGGACTATGGGGTTAAATATTTGCCTATTATTATTCCCTTTGTAATGCCTGTCATGTTTTTAATTTTGCATTGCTCTTTGTAAAAAGGAAAGTGAAACATTTACAGATCA... | pathogenic | 47,946 |
Does the variant impacting TTN on chromosome 2, position 178552312, 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'] | ATTGGTGGAACTATAAAAGAAAGAGAAATACTATGTATTAGTTTGGCTTAATAAAGACATACATAAATATATATTTTTCAGTAGTGCCATATCACAAGGCCAGGAAGAGTAGTGACTTCTACTGTGCTACCAAAGCCTATTTTGAAAGTAGGATTGATAATTGAGAATTTGGACTATGGGGTTAAATATTTGCCTATTATTATTCCCTTTGTAATGCCTGTCATGTTTTTAATTTTGCATTGCTCTTTGTAAAAAGGAAAGTGAAACATTTACAGATCATGTACTTCCTAATACTGCTGCACAGTCACACAAGTTCTTTT... | ATTGGTGGAACTATAAAAGAAAGAGAAATACTATGTATTAGTTTGGCTTAATAAAGACATACATAAATATATATTTTTCAGTAGTGCCATATCACAAGGCCAGGAAGAGTAGTGACTTCTACTGTGCTACCAAAGCCTATTTTGAAAGTAGGATTGATAATTGAGAATTTGGACTATGGGGTTAAATATTTGCCTATTATTATTCCCTTTGTAATGCCTGTCATGTTTTTAATTTTGCATTGCTCTTTGTAAAAAGGAAAGTGAAACATTTACAGATCATGTACTTCCTAATACTGCTGCACAGTCACACAAGTTCTTTT... | pathogenic | 47,947 |
Variant on chromosome 2, at position 178552333, 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'] | AGAGAAATACTATGTATTAGTTTGGCTTAATAAAGACATACATAAATATATATTTTTCAGTAGTGCCATATCACAAGGCCAGGAAGAGTAGTGACTTCTACTGTGCTACCAAAGCCTATTTTGAAAGTAGGATTGATAATTGAGAATTTGGACTATGGGGTTAAATATTTGCCTATTATTATTCCCTTTGTAATGCCTGTCATGTTTTTAATTTTGCATTGCTCTTTGTAAAAAGGAAAGTGAAACATTTACAGATCATGTACTTCCTAATACTGCTGCACAGTCACACAAGTTCTTTTAAGAGGCCATCAGCTGCATTC... | AGAGAAATACTATGTATTAGTTTGGCTTAATAAAGACATACATAAATATATATTTTTCAGTAGTGCCATATCACAAGGCCAGGAAGAGTAGTGACTTCTACTGTGCTACCAAAGCCTATTTTGAAAGTAGGATTGATAATTGAGAATTTGGACTATGGGGTTAAATATTTGCCTATTATTATTCCCTTTGTAATGCCTGTCATGTTTTTAATTTTGCATTGCTCTTTGTAAAAAGGAAAGTGAAACATTTACAGATCATGTACTTCCTAATACTGCTGCACAGTCACACAAGTTCTTTTAAGAGGCCATCAGCTGCATTC... | pathogenic | 47,948 |
Considering the variant on chromosome 2, location 178552643, 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', 'Primary_dilated_cardiomyopathy'] | AGCTGCATTCAAGCAAGGGGATGATTGTGTTGTTGGATGTATGTTGTATTTTAATAACTTCAGTAAAGATGGACACTTATTCTCGAGAACCTTTTCTTTATGTACTGTTAAGTGGCGAAAATTACAAAGCTAAAAACTCATTCCCACTTGCTGCATGCTCTTTATATGGGAATGGAGTGAAATAATAGAAAAAATAATTGATGCCAATTATTTTTTTCTTCTTTTCATCTGAAAGGTAGAAAGACATAATTCATCCACTTAGCAACCTTGGGTAATTTGTTTCTGTTACCATTTTACAGGCCAGGGGCCAAATGTGTTTT... | AGCTGCATTCAAGCAAGGGGATGATTGTGTTGTTGGATGTATGTTGTATTTTAATAACTTCAGTAAAGATGGACACTTATTCTCGAGAACCTTTTCTTTATGTACTGTTAAGTGGCGAAAATTACAAAGCTAAAAACTCATTCCCACTTGCTGCATGCTCTTTATATGGGAATGGAGTGAAATAATAGAAAAAATAATTGATGCCAATTATTTTTTTCTTCTTTTCATCTGAAAGGTAGAAAGACATAATTCATCCACTTAGCAACCTTGGGTAATTTGTTTCTGTTACCATTTTACAGGCCAGGGGCCAAATGTGTTTT... | pathogenic | 47,954 |
Considering the genetic mutation at chromosome 2, position 178552814, impacting TTN: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | ATGGAGTGAAATAATAGAAAAAATAATTGATGCCAATTATTTTTTTCTTCTTTTCATCTGAAAGGTAGAAAGACATAATTCATCCACTTAGCAACCTTGGGTAATTTGTTTCTGTTACCATTTTACAGGCCAGGGGCCAAATGTGTTTTTTAAAAATGTGAATGCTCTTAGTCTCATTGGAAATAAGTTGTAAATGCTTACCATTTTCATCTCTTGTCATAATAATGCCAGAAGACTGTGAGGGCGGGCTTATAGTTCCAACAGCATTTCTTGCAATTATTCTGAACTCATAGCGATCCCCAGGACTGAGTCCTGTAACT... | ATGGAGTGAAATAATAGAAAAAATAATTGATGCCAATTATTTTTTTCTTCTTTTCATCTGAAAGGTAGAAAGACATAATTCATCCACTTAGCAACCTTGGGTAATTTGTTTCTGTTACCATTTTACAGGCCAGGGGCCAAATGTGTTTTTTAAAAATGTGAATGCTCTTAGTCTCATTGGAAATAAGTTGTAAATGCTTACCATTTTCATCTCTTGTCATAATAATGCCAGAAGACTGTGAGGGCGGGCTTATAGTTCCAACAGCATTTCTTGCAATTATTCTGAACTCATAGCGATCCCCAGGACTGAGTCCTGTAACT... | pathogenic | 47,963 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 178552978, gene TTN. What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CTCTTAGTCTCATTGGAAATAAGTTGTAAATGCTTACCATTTTCATCTCTTGTCATAATAATGCCAGAAGACTGTGAGGGCGGGCTTATAGTTCCAACAGCATTTCTTGCAATTATTCTGAACTCATAGCGATCCCCAGGACTGAGTCCTGTAACTGTGTACTGACATTCACTGACGTCAGTAAAGTTGCATCTCACCCAGCGTTCATTTCCTTGCCGTTTCTCAATGCTATAGCCCACAATCTTACTGCCTCCATCACGCAATGGTGGGTTCCATTTAAGTGTGATGGTTTCCCGGGTGACATCAATGTAGTCAGGAGT... | CTCTTAGTCTCATTGGAAATAAGTTGTAAATGCTTACCATTTTCATCTCTTGTCATAATAATGCCAGAAGACTGTGAGGGCGGGCTTATAGTTCCAACAGCATTTCTTGCAATTATTCTGAACTCATAGCGATCCCCAGGACTGAGTCCTGTAACTGTGTACTGACATTCACTGACGTCAGTAAAGTTGCATCTCACCCAGCGTTCATTTCCTTGCCGTTTCTCAATGCTATAGCCCACAATCTTACTGCCTCCATCACGCAATGGTGGGTTCCATTTAAGTGTGATGGTTTCCCGGGTGACATCAATGTAGTCAGGAGT... | pathogenic | 47,970 |
Regarding the variant at chromosome 2 and position 178552996, 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... | ATAAGTTGTAAATGCTTACCATTTTCATCTCTTGTCATAATAATGCCAGAAGACTGTGAGGGCGGGCTTATAGTTCCAACAGCATTTCTTGCAATTATTCTGAACTCATAGCGATCCCCAGGACTGAGTCCTGTAACTGTGTACTGACATTCACTGACGTCAGTAAAGTTGCATCTCACCCAGCGTTCATTTCCTTGCCGTTTCTCAATGCTATAGCCCACAATCTTACTGCCTCCATCACGCAATGGTGGGTTCCATTTAAGTGTGATGGTTTCCCGGGTGACATCAATGTAGTCAGGAGTGCCAGGTGGGTCTAAAAA... | ATAAGTTGTAAATGCTTACCATTTTCATCTCTTGTCATAATAATGCCAGAAGACTGTGAGGGCGGGCTTATAGTTCCAACAGCATTTCTTGCAATTATTCTGAACTCATAGCGATCCCCAGGACTGAGTCCTGTAACTGTGTACTGACATTCACTGACGTCAGTAAAGTTGCATCTCACCCAGCGTTCATTTCCTTGCCGTTTCTCAATGCTATAGCCCACAATCTTACTGCCTCCATCACGCAATGGTGGGTTCCATTTAAGTGTGATGGTTTCCCGGGTGACATCAATGTAGTCAGGAGTGCCAGGTGGGTCTAAAAA... | pathogenic | 47,972 |
Variant on chromosome 2, at position 178553346, 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'] | TTGTAACCAGGTCTTAATCATCCATGGAAGAACAATACAATTATTCTATAATTTTAATAAATAAGTAAAATTTTTATAATAAGTAATTTATTCAATCTCCCAAACTCATATTGGTCATTAATTTCAACTTTCCATTTCATAGTCTTTAAAATGAACTTCAAATTAGTTTATTAGACTGACTTAAAATAATTCCTCTTGCTTTACATGACCAGTTCTCTAGTGACAAGAAGATATGTAAGAAGGTGATGCAGAGAAGAAAAGCATTCCTTGATATATTTGTTTCTAATATGTTCAATTGCTAAACTAAATGTATTTGAATA... | TTGTAACCAGGTCTTAATCATCCATGGAAGAACAATACAATTATTCTATAATTTTAATAAATAAGTAAAATTTTTATAATAAGTAATTTATTCAATCTCCCAAACTCATATTGGTCATTAATTTCAACTTTCCATTTCATAGTCTTTAAAATGAACTTCAAATTAGTTTATTAGACTGACTTAAAATAATTCCTCTTGCTTTACATGACCAGTTCTCTAGTGACAAGAAGATATGTAAGAAGGTGATGCAGAGAAGAAAAGCATTCCTTGATATATTTGTTTCTAATATGTTCAATTGCTAAACTAAATGTATTTGAATA... | pathogenic | 47,988 |
Classify the chromosome 2 variant at position 178553716 affecting gene TTN as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype'] | CTAGGTGAGCTTAGGCCAGCAGAATTTTCAGCATATACACGGAATTGGTAATCCAGACCTTCTACCAGTCCAGTGGCTCTATATTCTCTTCCAGAGATTGGTGATGTATTAACTTTTTGCCAGAGGATGCTATTTCTTTCTTTCTTTTCAACATGGAATCCAGTAACTTCTGAACCACCATCATAAACTGGAGCATCCCAAGTTAGTGACATGCCATCAGAAGTCACATTGTATATAACTGGCTTTCCTGGGGGACCAGGAATCCTGAACTGGTGTTTTGCCACAATAATGCTTGAGACAAGTGGTTGGCTGACTCCGTA... | CTAGGTGAGCTTAGGCCAGCAGAATTTTCAGCATATACACGGAATTGGTAATCCAGACCTTCTACCAGTCCAGTGGCTCTATATTCTCTTCCAGAGATTGGTGATGTATTAACTTTTTGCCAGAGGATGCTATTTCTTTCTTTCTTTTCAACATGGAATCCAGTAACTTCTGAACCACCATCATAAACTGGAGCATCCCAAGTTAGTGACATGCCATCAGAAGTCACATTGTATATAACTGGCTTTCCTGGGGGACCAGGAATCCTGAACTGGTGTTTTGCCACAATAATGCTTGAGACAAGTGGTTGGCTGACTCCGTA... | pathogenic | 47,996 |
The chromosome 2, position 178553726 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'] | TTAGGCCAGCAGAATTTTCAGCATATACACGGAATTGGTAATCCAGACCTTCTACCAGTCCAGTGGCTCTATATTCTCTTCCAGAGATTGGTGATGTATTAACTTTTTGCCAGAGGATGCTATTTCTTTCTTTCTTTTCAACATGGAATCCAGTAACTTCTGAACCACCATCATAAACTGGAGCATCCCAAGTTAGTGACATGCCATCAGAAGTCACATTGTATATAACTGGCTTTCCTGGGGGACCAGGAATCCTGAACTGGTGTTTTGCCACAATAATGCTTGAGACAAGTGGTTGGCTGACTCCGTATCTGTTTTCT... | TTAGGCCAGCAGAATTTTCAGCATATACACGGAATTGGTAATCCAGACCTTCTACCAGTCCAGTGGCTCTATATTCTCTTCCAGAGATTGGTGATGTATTAACTTTTTGCCAGAGGATGCTATTTCTTTCTTTCTTTTCAACATGGAATCCAGTAACTTCTGAACCACCATCATAAACTGGAGCATCCCAAGTTAGTGACATGCCATCAGAAGTCACATTGTATATAACTGGCTTTCCTGGGGGACCAGGAATCCTGAACTGGTGTTTTGCCACAATAATGCTTGAGACAAGTGGTTGGCTGACTCCGTATCTGTTTTCT... | pathogenic | 47,999 |
Is the chromosome 2, position 178553734 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'] | GCAGAATTTTCAGCATATACACGGAATTGGTAATCCAGACCTTCTACCAGTCCAGTGGCTCTATATTCTCTTCCAGAGATTGGTGATGTATTAACTTTTTGCCAGAGGATGCTATTTCTTTCTTTCTTTTCAACATGGAATCCAGTAACTTCTGAACCACCATCATAAACTGGAGCATCCCAAGTTAGTGACATGCCATCAGAAGTCACATTGTATATAACTGGCTTTCCTGGGGGACCAGGAATCCTGAACTGGTGTTTTGCCACAATAATGCTTGAGACAAGTGGTTGGCTGACTCCGTATCTGTTTTCTGCTCTCAC... | GCAGAATTTTCAGCATATACACGGAATTGGTAATCCAGACCTTCTACCAGTCCAGTGGCTCTATATTCTCTTCCAGAGATTGGTGATGTATTAACTTTTTGCCAGAGGATGCTATTTCTTTCTTTCTTTTCAACATGGAATCCAGTAACTTCTGAACCACCATCATAAACTGGAGCATCCCAAGTTAGTGACATGCCATCAGAAGTCACATTGTATATAACTGGCTTTCCTGGGGGACCAGGAATCCTGAACTGGTGTTTTGCCACAATAATGCTTGAGACAAGTGGTTGGCTGACTCCGTATCTGTTTTCTGCTCTCAC... | pathogenic | 48,000 |
A genetic variant on chromosome 2, position 178553778, affects the gene TTN. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TACCAGTCCAGTGGCTCTATATTCTCTTCCAGAGATTGGTGATGTATTAACTTTTTGCCAGAGGATGCTATTTCTTTCTTTCTTTTCAACATGGAATCCAGTAACTTCTGAACCACCATCATAAACTGGAGCATCCCAAGTTAGTGACATGCCATCAGAAGTCACATTGTATATAACTGGCTTTCCTGGGGGACCAGGAATCCTGAACTGGTGTTTTGCCACAATAATGCTTGAGACAAGTGGTTGGCTGACTCCGTATCTGTTTTCTGCTCTCACTCTAAACTGGTACTCAGCATCTTTGACTAGATTAGGAACTTTGA... | TACCAGTCCAGTGGCTCTATATTCTCTTCCAGAGATTGGTGATGTATTAACTTTTTGCCAGAGGATGCTATTTCTTTCTTTCTTTTCAACATGGAATCCAGTAACTTCTGAACCACCATCATAAACTGGAGCATCCCAAGTTAGTGACATGCCATCAGAAGTCACATTGTATATAACTGGCTTTCCTGGGGGACCAGGAATCCTGAACTGGTGTTTTGCCACAATAATGCTTGAGACAAGTGGTTGGCTGACTCCGTATCTGTTTTCTGCTCTCACTCTAAACTGGTACTCAGCATCTTTGACTAGATTAGGAACTTTGA... | pathogenic | 48,004 |
Is the genetic change at chromosome 2, position 178553784, 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'] | TCCAGTGGCTCTATATTCTCTTCCAGAGATTGGTGATGTATTAACTTTTTGCCAGAGGATGCTATTTCTTTCTTTCTTTTCAACATGGAATCCAGTAACTTCTGAACCACCATCATAAACTGGAGCATCCCAAGTTAGTGACATGCCATCAGAAGTCACATTGTATATAACTGGCTTTCCTGGGGGACCAGGAATCCTGAACTGGTGTTTTGCCACAATAATGCTTGAGACAAGTGGTTGGCTGACTCCGTATCTGTTTTCTGCTCTCACTCTAAACTGGTACTCAGCATCTTTGACTAGATTAGGAACTTTGAAAGTCG... | TCCAGTGGCTCTATATTCTCTTCCAGAGATTGGTGATGTATTAACTTTTTGCCAGAGGATGCTATTTCTTTCTTTCTTTTCAACATGGAATCCAGTAACTTCTGAACCACCATCATAAACTGGAGCATCCCAAGTTAGTGACATGCCATCAGAAGTCACATTGTATATAACTGGCTTTCCTGGGGGACCAGGAATCCTGAACTGGTGTTTTGCCACAATAATGCTTGAGACAAGTGGTTGGCTGACTCCGTATCTGTTTTCTGCTCTCACTCTAAACTGGTACTCAGCATCTTTGACTAGATTAGGAACTTTGAAAGTCG... | pathogenic | 48,005 |
Determine whether the variant at chromosome 2, position 178553988, in gene TTN is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | GTGTTTTGCCACAATAATGCTTGAGACAAGTGGTTGGCTGACTCCGTATCTGTTTTCTGCTCTCACTCTAAACTGGTACTCAGCATCTTTGACTAGATTAGGAACTTTGAAAGTCGTTCTGGCAACACTTGAACACACCATCTTCCAGTTAGTTTGTGAAGTTTCCCGCTTCTCGATGCTGTAACAAGTAATTTCTCCTCCTCCATTATCTTCAGGTACATCCCATGACAGGATGACACTATCAGCCTTGATTTCATCAAATCGAATGGGTCCTTTGGGCTTTGATGGTGGGCCAAGGGTGATGACTGTAATGGGGACTG... | GTGTTTTGCCACAATAATGCTTGAGACAAGTGGTTGGCTGACTCCGTATCTGTTTTCTGCTCTCACTCTAAACTGGTACTCAGCATCTTTGACTAGATTAGGAACTTTGAAAGTCGTTCTGGCAACACTTGAACACACCATCTTCCAGTTAGTTTGTGAAGTTTCCCGCTTCTCGATGCTGTAACAAGTAATTTCTCCTCCTCCATTATCTTCAGGTACATCCCATGACAGGATGACACTATCAGCCTTGATTTCATCAAATCGAATGGGTCCTTTGGGCTTTGATGGTGGGCCAAGGGTGATGACTGTAATGGGGACTG... | pathogenic | 48,011 |
Does the genetic variant at chromosome 2, position 178554104, 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'] | TTCTGGCAACACTTGAACACACCATCTTCCAGTTAGTTTGTGAAGTTTCCCGCTTCTCGATGCTGTAACAAGTAATTTCTCCTCCTCCATTATCTTCAGGTACATCCCATGACAGGATGACACTATCAGCCTTGATTTCATCAAATCGAATGGGTCCTTTGGGCTTTGATGGTGGGCCAAGGGTGATGACTGTAATGGGGACTGCAATTCTACACACTGCATTATCAAGAATAACAGTGTATTTTCCTCCATGCTCCTTCTTGGCATTCTTAATACTCAAAGTAATTTTGTTTTCAGTTTTACTGAAGCGAACAAATTCA... | TTCTGGCAACACTTGAACACACCATCTTCCAGTTAGTTTGTGAAGTTTCCCGCTTCTCGATGCTGTAACAAGTAATTTCTCCTCCTCCATTATCTTCAGGTACATCCCATGACAGGATGACACTATCAGCCTTGATTTCATCAAATCGAATGGGTCCTTTGGGCTTTGATGGTGGGCCAAGGGTGATGACTGTAATGGGGACTGCAATTCTACACACTGCATTATCAAGAATAACAGTGTATTTTCCTCCATGCTCCTTCTTGGCATTCTTAATACTCAAAGTAATTTTGTTTTCAGTTTTACTGAAGCGAACAAATTCA... | pathogenic | 48,016 |
The mutation in gene TTN at chromosome 2, position 178554125—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CCATCTTCCAGTTAGTTTGTGAAGTTTCCCGCTTCTCGATGCTGTAACAAGTAATTTCTCCTCCTCCATTATCTTCAGGTACATCCCATGACAGGATGACACTATCAGCCTTGATTTCATCAAATCGAATGGGTCCTTTGGGCTTTGATGGTGGGCCAAGGGTGATGACTGTAATGGGGACTGCAATTCTACACACTGCATTATCAAGAATAACAGTGTATTTTCCTCCATGCTCCTTCTTGGCATTCTTAATACTCAAAGTAATTTTGTTTTCAGTTTTACTGAAGCGAACAAATTCACTTTCTTTCAGTGGCAAGCCA... | CCATCTTCCAGTTAGTTTGTGAAGTTTCCCGCTTCTCGATGCTGTAACAAGTAATTTCTCCTCCTCCATTATCTTCAGGTACATCCCATGACAGGATGACACTATCAGCCTTGATTTCATCAAATCGAATGGGTCCTTTGGGCTTTGATGGTGGGCCAAGGGTGATGACTGTAATGGGGACTGCAATTCTACACACTGCATTATCAAGAATAACAGTGTATTTTCCTCCATGCTCCTTCTTGGCATTCTTAATACTCAAAGTAATTTTGTTTTCAGTTTTACTGAAGCGAACAAATTCACTTTCTTTCAGTGGCAAGCCA... | pathogenic | 48,017 |
Is the variant located on chromosome 2 at position 178554491, 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'] | ATTCAAGGTGCACATTGTGCCCAATTCTCACAGTGACTTGTGCCCCAGGGATATCTGACAGGTCAACTTCAGGTGTAATAATAAGTTCTTTCACTGTAATTGGCCCAATAGTGACAGGATCACTCAGTCCTTTCTCATTTTTGGCAAACACTCTGAACTCCAGGACTGACTGCTCCTTAAGTTGGCTAACCTCAATTTCACATGTCTTACTTATGCCAGCGTGGGACCACGTCTGTTCACCTTTACCTTTCCTTTCTACAACATATTCTGTGATGACGCTACCACCATCAAAGTCAGGTTTGGTCCAGCTGAGGATGACA... | ATTCAAGGTGCACATTGTGCCCAATTCTCACAGTGACTTGTGCCCCAGGGATATCTGACAGGTCAACTTCAGGTGTAATAATAAGTTCTTTCACTGTAATTGGCCCAATAGTGACAGGATCACTCAGTCCTTTCTCATTTTTGGCAAACACTCTGAACTCCAGGACTGACTGCTCCTTAAGTTGGCTAACCTCAATTTCACATGTCTTACTTATGCCAGCGTGGGACCACGTCTGTTCACCTTTACCTTTCCTTTCTACAACATATTCTGTGATGACGCTACCACCATCAAAGTCAGGTTTGGTCCAGCTGAGGATGACA... | pathogenic | 48,026 |
Is the genetic mutation found on chromosome 2 at position 178554642, within the gene TTN, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TCTGAACTCCAGGACTGACTGCTCCTTAAGTTGGCTAACCTCAATTTCACATGTCTTACTTATGCCAGCGTGGGACCACGTCTGTTCACCTTTACCTTTCCTTTCTACAACATATTCTGTGATGACGCTACCACCATCAAAGTCAGGTTTGGTCCAGCTGAGGATGACAGATGTCTTTGTTGAGTCTTTCATTGAGAGATCACGTATAGGAGCTGGTACTTCAGCAGCCTTCACTGGCTCTGTAGTTTCACAGGGTTCCCCAATTCCAATTTCATTTTCTGCAAGAACTCTGAAGAAGAATGGAGTCTTCTCCGACAAAT... | TCTGAACTCCAGGACTGACTGCTCCTTAAGTTGGCTAACCTCAATTTCACATGTCTTACTTATGCCAGCGTGGGACCACGTCTGTTCACCTTTACCTTTCCTTTCTACAACATATTCTGTGATGACGCTACCACCATCAAAGTCAGGTTTGGTCCAGCTGAGGATGACAGATGTCTTTGTTGAGTCTTTCATTGAGAGATCACGTATAGGAGCTGGTACTTCAGCAGCCTTCACTGGCTCTGTAGTTTCACAGGGTTCCCCAATTCCAATTTCATTTTCTGCAAGAACTCTGAAGAAGAATGGAGTCTTCTCCGACAAAT... | pathogenic | 48,039 |
Classify the chromosome 2 variant at position 178554650 affecting gene TTN as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CCAGGACTGACTGCTCCTTAAGTTGGCTAACCTCAATTTCACATGTCTTACTTATGCCAGCGTGGGACCACGTCTGTTCACCTTTACCTTTCCTTTCTACAACATATTCTGTGATGACGCTACCACCATCAAAGTCAGGTTTGGTCCAGCTGAGGATGACAGATGTCTTTGTTGAGTCTTTCATTGAGAGATCACGTATAGGAGCTGGTACTTCAGCAGCCTTCACTGGCTCTGTAGTTTCACAGGGTTCCCCAATTCCAATTTCATTTTCTGCAAGAACTCTGAAGAAGAATGGAGTCTTCTCCGACAAATCTATTAGC... | CCAGGACTGACTGCTCCTTAAGTTGGCTAACCTCAATTTCACATGTCTTACTTATGCCAGCGTGGGACCACGTCTGTTCACCTTTACCTTTCCTTTCTACAACATATTCTGTGATGACGCTACCACCATCAAAGTCAGGTTTGGTCCAGCTGAGGATGACAGATGTCTTTGTTGAGTCTTTCATTGAGAGATCACGTATAGGAGCTGGTACTTCAGCAGCCTTCACTGGCTCTGTAGTTTCACAGGGTTCCCCAATTCCAATTTCATTTTCTGCAAGAACTCTGAAGAAGAATGGAGTCTTCTCCGACAAATCTATTAGC... | pathogenic | 48,041 |
Clinically, how would you classify the variant at chromosome 2, position 178557059, 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'] | GTTTGTAATTCTTTATCATCTTTATACCACTCAATAGTAGGCGCAGGTTTGCCAGAAATGCCAGCTCTGAGCTTCACAGATGTACCTGCTCTGTATTTGACAACTTCTGTATATTCTAGAGGCAAATCAATTACAGGACCACCTGCAAGAAAAACAGATGAGAAATATTTAAAATATTATAAGGATGGAAAAAAAAATAGTTGCACCAACCTTAAAGTAAGGTCATTGGCCATTATTAAATTATACACACACACCATCATTATAATTCTATGCAATTATTATTTAAAAATTAAAAATTTATAGGCCACTCTTCTATCTCA... | GTTTGTAATTCTTTATCATCTTTATACCACTCAATAGTAGGCGCAGGTTTGCCAGAAATGCCAGCTCTGAGCTTCACAGATGTACCTGCTCTGTATTTGACAACTTCTGTATATTCTAGAGGCAAATCAATTACAGGACCACCTGCAAGAAAAACAGATGAGAAATATTTAAAATATTATAAGGATGGAAAAAAAAATAGTTGCACCAACCTTAAAGTAAGGTCATTGGCCATTATTAAATTATACACACACACCATCATTATAATTCTATGCAATTATTATTTAAAAATTAAAAATTTATAGGCCACTCTTCTATCTCA... | pathogenic | 48,072 |
Evaluate this variant at chromosome 2, position 178557261, gene TTN: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | GCACCAACCTTAAAGTAAGGTCATTGGCCATTATTAAATTATACACACACACCATCATTATAATTCTATGCAATTATTATTTAAAAATTAAAAATTTATAGGCCACTCTTCTATCTCAGATGGGGTAGAAAGACTGTGAGTTGTGCAGGGACTTAAGCACCTTTTACATGTGTTTTAAAGTCCATTAGTTGCTTTATTCCAGTGAAGAAATGGGATATGGTAGTGAGAACATCATGGAAGAAGCTGTTAAAACATTTCCTTTCACTTTAGCTTTTCTTTCCTTTTCTTCTACGCACCTCCTATTCTTTTTCTTTTCCCAT... | GCACCAACCTTAAAGTAAGGTCATTGGCCATTATTAAATTATACACACACACCATCATTATAATTCTATGCAATTATTATTTAAAAATTAAAAATTTATAGGCCACTCTTCTATCTCAGATGGGGTAGAAAGACTGTGAGTTGTGCAGGGACTTAAGCACCTTTTACATGTGTTTTAAAGTCCATTAGTTGCTTTATTCCAGTGAAGAAATGGGATATGGTAGTGAGAACATCATGGAAGAAGCTGTTAAAACATTTCCTTTCACTTTAGCTTTTCTTTCCTTTTCTTCTACGCACCTCCTATTCTTTTTCTTTTCCCAT... | pathogenic | 48,080 |
Does the chromosome 2 mutation at position 178557413 within gene TTN classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Primary_dilated_cardiomyopathy'] | TTAAGCACCTTTTACATGTGTTTTAAAGTCCATTAGTTGCTTTATTCCAGTGAAGAAATGGGATATGGTAGTGAGAACATCATGGAAGAAGCTGTTAAAACATTTCCTTTCACTTTAGCTTTTCTTTCCTTTTCTTCTACGCACCTCCTATTCTTTTTCTTTTCCCATCCCAGTTCACTGATATCCAAGTGTGGATGGTTCATGTCAGACACTTAAAGTCTGAATTCTCTACCCACAGAGCTACATAATTACTGGACAGATTTTCTGCCATGCTGTTTGGAATTATCAAGAAAGATAACTAAATTCGACTTGCTTTATAC... | TTAAGCACCTTTTACATGTGTTTTAAAGTCCATTAGTTGCTTTATTCCAGTGAAGAAATGGGATATGGTAGTGAGAACATCATGGAAGAAGCTGTTAAAACATTTCCTTTCACTTTAGCTTTTCTTTCCTTTTCTTCTACGCACCTCCTATTCTTTTTCTTTTCCCATCCCAGTTCACTGATATCCAAGTGTGGATGGTTCATGTCAGACACTTAAAGTCTGAATTCTCTACCCACAGAGCTACATAATTACTGGACAGATTTTCTGCCATGCTGTTTGGAATTATCAAGAAAGATAACTAAATTCGACTTGCTTTATAC... | pathogenic | 48,085 |
Does the chromosome 2 mutation at position 178557424 within gene TTN classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TTACATGTGTTTTAAAGTCCATTAGTTGCTTTATTCCAGTGAAGAAATGGGATATGGTAGTGAGAACATCATGGAAGAAGCTGTTAAAACATTTCCTTTCACTTTAGCTTTTCTTTCCTTTTCTTCTACGCACCTCCTATTCTTTTTCTTTTCCCATCCCAGTTCACTGATATCCAAGTGTGGATGGTTCATGTCAGACACTTAAAGTCTGAATTCTCTACCCACAGAGCTACATAATTACTGGACAGATTTTCTGCCATGCTGTTTGGAATTATCAAGAAAGATAACTAAATTCGACTTGCTTTATACTCTCATAAACA... | TTACATGTGTTTTAAAGTCCATTAGTTGCTTTATTCCAGTGAAGAAATGGGATATGGTAGTGAGAACATCATGGAAGAAGCTGTTAAAACATTTCCTTTCACTTTAGCTTTTCTTTCCTTTTCTTCTACGCACCTCCTATTCTTTTTCTTTTCCCATCCCAGTTCACTGATATCCAAGTGTGGATGGTTCATGTCAGACACTTAAAGTCTGAATTCTCTACCCACAGAGCTACATAATTACTGGACAGATTTTCTGCCATGCTGTTTGGAATTATCAAGAAAGATAACTAAATTCGACTTGCTTTATACTCTCATAAACA... | pathogenic | 48,086 |
A genetic alteration at chromosome 2, position 178557426, 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'] | ACATGTGTTTTAAAGTCCATTAGTTGCTTTATTCCAGTGAAGAAATGGGATATGGTAGTGAGAACATCATGGAAGAAGCTGTTAAAACATTTCCTTTCACTTTAGCTTTTCTTTCCTTTTCTTCTACGCACCTCCTATTCTTTTTCTTTTCCCATCCCAGTTCACTGATATCCAAGTGTGGATGGTTCATGTCAGACACTTAAAGTCTGAATTCTCTACCCACAGAGCTACATAATTACTGGACAGATTTTCTGCCATGCTGTTTGGAATTATCAAGAAAGATAACTAAATTCGACTTGCTTTATACTCTCATAAACACT... | ACATGTGTTTTAAAGTCCATTAGTTGCTTTATTCCAGTGAAGAAATGGGATATGGTAGTGAGAACATCATGGAAGAAGCTGTTAAAACATTTCCTTTCACTTTAGCTTTTCTTTCCTTTTCTTCTACGCACCTCCTATTCTTTTTCTTTTCCCATCCCAGTTCACTGATATCCAAGTGTGGATGGTTCATGTCAGACACTTAAAGTCTGAATTCTCTACCCACAGAGCTACATAATTACTGGACAGATTTTCTGCCATGCTGTTTGGAATTATCAAGAAAGATAACTAAATTCGACTTGCTTTATACTCTCATAAACACT... | pathogenic | 48,088 |
Mutation found at chromosome 2 position 178557528, 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'] | TAGCTTTTCTTTCCTTTTCTTCTACGCACCTCCTATTCTTTTTCTTTTCCCATCCCAGTTCACTGATATCCAAGTGTGGATGGTTCATGTCAGACACTTAAAGTCTGAATTCTCTACCCACAGAGCTACATAATTACTGGACAGATTTTCTGCCATGCTGTTTGGAATTATCAAGAAAGATAACTAAATTCGACTTGCTTTATACTCTCATAAACACTGATTCAGTATCCACAAAGCCTGATTCATAAATAATGAACAGCCCTGAGATTCTCAGCATGAAGATGGAAGTGGATACTTTTGCCCAGACACTACAGTGGCTC... | TAGCTTTTCTTTCCTTTTCTTCTACGCACCTCCTATTCTTTTTCTTTTCCCATCCCAGTTCACTGATATCCAAGTGTGGATGGTTCATGTCAGACACTTAAAGTCTGAATTCTCTACCCACAGAGCTACATAATTACTGGACAGATTTTCTGCCATGCTGTTTGGAATTATCAAGAAAGATAACTAAATTCGACTTGCTTTATACTCTCATAAACACTGATTCAGTATCCACAAAGCCTGATTCATAAATAATGAACAGCCCTGAGATTCTCAGCATGAAGATGGAAGTGGATACTTTTGCCCAGACACTACAGTGGCTC... | pathogenic | 48,094 |
Evaluate if the mutation on chromosome 2 at position 178557545 in TTN is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | TCTTCTACGCACCTCCTATTCTTTTTCTTTTCCCATCCCAGTTCACTGATATCCAAGTGTGGATGGTTCATGTCAGACACTTAAAGTCTGAATTCTCTACCCACAGAGCTACATAATTACTGGACAGATTTTCTGCCATGCTGTTTGGAATTATCAAGAAAGATAACTAAATTCGACTTGCTTTATACTCTCATAAACACTGATTCAGTATCCACAAAGCCTGATTCATAAATAATGAACAGCCCTGAGATTCTCAGCATGAAGATGGAAGTGGATACTTTTGCCCAGACACTACAGTGGCTCAATTTTCTCTTAGCAAA... | TCTTCTACGCACCTCCTATTCTTTTTCTTTTCCCATCCCAGTTCACTGATATCCAAGTGTGGATGGTTCATGTCAGACACTTAAAGTCTGAATTCTCTACCCACAGAGCTACATAATTACTGGACAGATTTTCTGCCATGCTGTTTGGAATTATCAAGAAAGATAACTAAATTCGACTTGCTTTATACTCTCATAAACACTGATTCAGTATCCACAAAGCCTGATTCATAAATAATGAACAGCCCTGAGATTCTCAGCATGAAGATGGAAGTGGATACTTTTGCCCAGACACTACAGTGGCTCAATTTTCTCTTAGCAAA... | pathogenic | 48,096 |
Variant at chromosome position 178557838, 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'] | ACAGTGGCTCAATTTTCTCTTAGCAAATGGAGATCTTTTAGGTAAAGTGTCACAGGATACCTGACTCTCATGACGTTTTAATTTTCAAAACATTGTTGAGTTGAATGTGCCACTTATTTTCCAGAATGGTGAAGAATACGCATTTTGGACTAACCATGATAGAGAGGGCTCTGAAGTCTGTCTGTCTGAATTCCCACTCCATCCCTAACGGGGAAGTTACAAAAGCACTCTCAGCCTCAGTTTCCCTTCTATAAGATGGCTAATATGAGGGCTGTGAGAACTAAGGGAAAGAATTCATGAAAATTCCTCAATAAATGTTA... | ACAGTGGCTCAATTTTCTCTTAGCAAATGGAGATCTTTTAGGTAAAGTGTCACAGGATACCTGACTCTCATGACGTTTTAATTTTCAAAACATTGTTGAGTTGAATGTGCCACTTATTTTCCAGAATGGTGAAGAATACGCATTTTGGACTAACCATGATAGAGAGGGCTCTGAAGTCTGTCTGTCTGAATTCCCACTCCATCCCTAACGGGGAAGTTACAAAAGCACTCTCAGCCTCAGTTTCCCTTCTATAAGATGGCTAATATGAGGGCTGTGAGAACTAAGGGAAAGAATTCATGAAAATTCCTCAATAAATGTTA... | pathogenic | 48,111 |
Gene TTN variant at chromosome position 178557902 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'] | CTCTCATGACGTTTTAATTTTCAAAACATTGTTGAGTTGAATGTGCCACTTATTTTCCAGAATGGTGAAGAATACGCATTTTGGACTAACCATGATAGAGAGGGCTCTGAAGTCTGTCTGTCTGAATTCCCACTCCATCCCTAACGGGGAAGTTACAAAAGCACTCTCAGCCTCAGTTTCCCTTCTATAAGATGGCTAATATGAGGGCTGTGAGAACTAAGGGAAAGAATTCATGAAAATTCCTCAATAAATGTTAGCTGCTGCTAATACTATCATCATCAAAGTCTGTGTTTAGACCAGGCATGGTGGCTCACACCTGT... | CTCTCATGACGTTTTAATTTTCAAAACATTGTTGAGTTGAATGTGCCACTTATTTTCCAGAATGGTGAAGAATACGCATTTTGGACTAACCATGATAGAGAGGGCTCTGAAGTCTGTCTGTCTGAATTCCCACTCCATCCCTAACGGGGAAGTTACAAAAGCACTCTCAGCCTCAGTTTCCCTTCTATAAGATGGCTAATATGAGGGCTGTGAGAACTAAGGGAAAGAATTCATGAAAATTCCTCAATAAATGTTAGCTGCTGCTAATACTATCATCATCAAAGTCTGTGTTTAGACCAGGCATGGTGGCTCACACCTGT... | pathogenic | 48,113 |
Variant at chromosome position 178557998, 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', 'Dilated_cardiomyopathy_1S'] | AGAGAGGGCTCTGAAGTCTGTCTGTCTGAATTCCCACTCCATCCCTAACGGGGAAGTTACAAAAGCACTCTCAGCCTCAGTTTCCCTTCTATAAGATGGCTAATATGAGGGCTGTGAGAACTAAGGGAAAGAATTCATGAAAATTCCTCAATAAATGTTAGCTGCTGCTAATACTATCATCATCAAAGTCTGTGTTTAGACCAGGCATGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGGTTGAGACCTGCCTGGCCAACATGGTGAAACTCCGTCCCTACTAA... | AGAGAGGGCTCTGAAGTCTGTCTGTCTGAATTCCCACTCCATCCCTAACGGGGAAGTTACAAAAGCACTCTCAGCCTCAGTTTCCCTTCTATAAGATGGCTAATATGAGGGCTGTGAGAACTAAGGGAAAGAATTCATGAAAATTCCTCAATAAATGTTAGCTGCTGCTAATACTATCATCATCAAAGTCTGTGTTTAGACCAGGCATGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGGTTGAGACCTGCCTGGCCAACATGGTGAAACTCCGTCCCTACTAA... | pathogenic | 48,119 |
Classify the chromosome 2 variant at position 178558058 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'] | AAAAGCACTCTCAGCCTCAGTTTCCCTTCTATAAGATGGCTAATATGAGGGCTGTGAGAACTAAGGGAAAGAATTCATGAAAATTCCTCAATAAATGTTAGCTGCTGCTAATACTATCATCATCAAAGTCTGTGTTTAGACCAGGCATGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGGTTGAGACCTGCCTGGCCAACATGGTGAAACTCCGTCCCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGGGCATGCCTGTAATCCCAGCTACTCAGGTGA... | AAAAGCACTCTCAGCCTCAGTTTCCCTTCTATAAGATGGCTAATATGAGGGCTGTGAGAACTAAGGGAAAGAATTCATGAAAATTCCTCAATAAATGTTAGCTGCTGCTAATACTATCATCATCAAAGTCTGTGTTTAGACCAGGCATGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGGTTGAGACCTGCCTGGCCAACATGGTGAAACTCCGTCCCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGGGCATGCCTGTAATCCCAGCTACTCAGGTGA... | pathogenic | 48,121 |
Classify the chromosome 2 variant at position 178558115 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'] | GAACTAAGGGAAAGAATTCATGAAAATTCCTCAATAAATGTTAGCTGCTGCTAATACTATCATCATCAAAGTCTGTGTTTAGACCAGGCATGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGGTTGAGACCTGCCTGGCCAACATGGTGAAACTCCGTCCCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGGGCATGCCTGTAATCCCAGCTACTCAGGTGACTGAGGCACGAGAATCGTTTGAGCCCAGGAGGCGGAAGTTGCAGTGAACCAAGACCG... | GAACTAAGGGAAAGAATTCATGAAAATTCCTCAATAAATGTTAGCTGCTGCTAATACTATCATCATCAAAGTCTGTGTTTAGACCAGGCATGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGGTTGAGACCTGCCTGGCCAACATGGTGAAACTCCGTCCCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGGGCATGCCTGTAATCCCAGCTACTCAGGTGACTGAGGCACGAGAATCGTTTGAGCCCAGGAGGCGGAAGTTGCAGTGAACCAAGACCG... | pathogenic | 48,123 |
For chromosome 2, position 178558409, gene TTN: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | GCGGAAGTTGCAGTGAACCAAGACCGTGCCACTGCACTACAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAACAAACAAACAAACAAACAAAAAAAAAAAAACCAAAAAATGAAGTCTCTGTTTAGTCTGTGGCTTATTTAAGAGCAATATTCTCTAGGAACTCAACCATGGTTTAATTATTGACTCTGATAATTTAAAACAGAATGAAAGCACCAACTCATACAATCAATCATAAAAGGTTGAAGTTGGAAAGGCCCATAGATATCCTGAGGTCTAAATCTCTCACTTTACAGTCAAGTCAAGAGGGCTGGAA... | GCGGAAGTTGCAGTGAACCAAGACCGTGCCACTGCACTACAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAACAAACAAACAAACAAACAAAAAAAAAAAAACCAAAAAATGAAGTCTCTGTTTAGTCTGTGGCTTATTTAAGAGCAATATTCTCTAGGAACTCAACCATGGTTTAATTATTGACTCTGATAATTTAAAACAGAATGAAAGCACCAACTCATACAATCAATCATAAAAGGTTGAAGTTGGAAAGGCCCATAGATATCCTGAGGTCTAAATCTCTCACTTTACAGTCAAGTCAAGAGGGCTGGAA... | pathogenic | 48,130 |
Clinical significance of chromosome 2, position 178558436, gene TTN: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | GCCACTGCACTACAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAACAAACAAACAAACAAACAAAAAAAAAAAAACCAAAAAATGAAGTCTCTGTTTAGTCTGTGGCTTATTTAAGAGCAATATTCTCTAGGAACTCAACCATGGTTTAATTATTGACTCTGATAATTTAAAACAGAATGAAAGCACCAACTCATACAATCAATCATAAAAGGTTGAAGTTGGAAAGGCCCATAGATATCCTGAGGTCTAAATCTCTCACTTTACAGTCAAGTCAAGAGGGCTGGAAAGGTATTTAAGGAATTTTCCTCAGACT... | GCCACTGCACTACAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAACAAACAAACAAACAAACAAAAAAAAAAAAACCAAAAAATGAAGTCTCTGTTTAGTCTGTGGCTTATTTAAGAGCAATATTCTCTAGGAACTCAACCATGGTTTAATTATTGACTCTGATAATTTAAAACAGAATGAAAGCACCAACTCATACAATCAATCATAAAAGGTTGAAGTTGGAAAGGCCCATAGATATCCTGAGGTCTAAATCTCTCACTTTACAGTCAAGTCAAGAGGGCTGGAAAGGTATTTAAGGAATTTTCCTCAGACT... | pathogenic | 48,133 |
Is the variant located on chromosome 2 at position 178558569, gene TTN, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CTAGGAACTCAACCATGGTTTAATTATTGACTCTGATAATTTAAAACAGAATGAAAGCACCAACTCATACAATCAATCATAAAAGGTTGAAGTTGGAAAGGCCCATAGATATCCTGAGGTCTAAATCTCTCACTTTACAGTCAAGTCAAGAGGGCTGGAAAGGTATTTAAGGAATTTTCCTCAGACTCCCAGCTAGTCCATAATTTCTTCCAAAAACCCCATTAAGGCACAGAGTAAAAGTTATTCTATAGGATTAGAACCAGGAAAAGGTATGCGGAAATACTGAGTTAAATAGCAATTTTGATTCAAAGTGCTAAGCA... | CTAGGAACTCAACCATGGTTTAATTATTGACTCTGATAATTTAAAACAGAATGAAAGCACCAACTCATACAATCAATCATAAAAGGTTGAAGTTGGAAAGGCCCATAGATATCCTGAGGTCTAAATCTCTCACTTTACAGTCAAGTCAAGAGGGCTGGAAAGGTATTTAAGGAATTTTCCTCAGACTCCCAGCTAGTCCATAATTTCTTCCAAAAACCCCATTAAGGCACAGAGTAAAAGTTATTCTATAGGATTAGAACCAGGAAAAGGTATGCGGAAATACTGAGTTAAATAGCAATTTTGATTCAAAGTGCTAAGCA... | pathogenic | 48,144 |
Chromosome 2, position 178559329, 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', 'Primary_dilated_cardiomyopathy', 'Primary_familial_dilated_cardiomyopathy', 'TTN-related_disorder'] | AGAAGGATGGCTAGGTTTTCCAACTCCAGCAGCATTTTCTGCATACACCCTGAATTCATAAATAAGTCCAGCACTGATTGTTGTGACTTTGAAGTGAGTTGTGCGGATGACCAGTTTGTTGGCTTTTTGCCATAAAATACTGTTTCTGTCTTTCATTTCCAGGTGATAGCCTACGACTGCACTGCCTCCATTTGACACTGGTTCATGCCAGCCCACAGTGATGCTTTCTCGAGTAACATTAGTGACCCATGGTGTAGATGGTGGTCCAGGTGTTGCTACAAAAGAGAGAAATCCTATAGATTAGTACAGACAATAACACA... | AGAAGGATGGCTAGGTTTTCCAACTCCAGCAGCATTTTCTGCATACACCCTGAATTCATAAATAAGTCCAGCACTGATTGTTGTGACTTTGAAGTGAGTTGTGCGGATGACCAGTTTGTTGGCTTTTTGCCATAAAATACTGTTTCTGTCTTTCATTTCCAGGTGATAGCCTACGACTGCACTGCCTCCATTTGACACTGGTTCATGCCAGCCCACAGTGATGCTTTCTCGAGTAACATTAGTGACCCATGGTGTAGATGGTGGTCCAGGTGTTGCTACAAAAGAGAGAAATCCTATAGATTAGTACAGACAATAACACA... | pathogenic | 48,150 |
A genetic variant at chromosome 2, position 178559690, 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'] | ACTTACTGTATGGTAGTTTGACAGTCACACAAGCTGAATCTATATGATCACTGATGCCAAAGCGGTTTTCTGCCTTGATGCGGAATTGGTATTCTTCTCCTGTGGTCAGTTTCATGACTTTCATCATGGTTCTTGCAACTGTTGCAGACACTTCAGTCCACACTGCAGTACTTGTTTCTCTTTTGAGTAGAATGTAGTTGGTAACTTGACTTCCACCGTCATACTTAGGTGGCTCCCATTTGAGAGTCACACTTTCTTCAGTTATATCACTAATAACAACAGGGCCAGTTGGAGGACCAGGCCTGTCTAGCACAACAATG... | ACTTACTGTATGGTAGTTTGACAGTCACACAAGCTGAATCTATATGATCACTGATGCCAAAGCGGTTTTCTGCCTTGATGCGGAATTGGTATTCTTCTCCTGTGGTCAGTTTCATGACTTTCATCATGGTTCTTGCAACTGTTGCAGACACTTCAGTCCACACTGCAGTACTTGTTTCTCTTTTGAGTAGAATGTAGTTGGTAACTTGACTTCCACCGTCATACTTAGGTGGCTCCCATTTGAGAGTCACACTTTCTTCAGTTATATCACTAATAACAACAGGGCCAGTTGGAGGACCAGGCCTGTCTAGCACAACAATG... | pathogenic | 48,167 |
Regarding the variant at chromosome 2 and position 178559740, affecting gene TTN: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Tibial_muscular_dystrophy... | CTGATGCCAAAGCGGTTTTCTGCCTTGATGCGGAATTGGTATTCTTCTCCTGTGGTCAGTTTCATGACTTTCATCATGGTTCTTGCAACTGTTGCAGACACTTCAGTCCACACTGCAGTACTTGTTTCTCTTTTGAGTAGAATGTAGTTGGTAACTTGACTTCCACCGTCATACTTAGGTGGCTCCCATTTGAGAGTCACACTTTCTTCAGTTATATCACTAATAACAACAGGGCCAGTTGGAGGACCAGGCCTGTCTAGCACAACAATGTTAATGAAAGCTTTGGTTGTACCACTGGAGTTGGCAGCAGTGATTTCATA... | CTGATGCCAAAGCGGTTTTCTGCCTTGATGCGGAATTGGTATTCTTCTCCTGTGGTCAGTTTCATGACTTTCATCATGGTTCTTGCAACTGTTGCAGACACTTCAGTCCACACTGCAGTACTTGTTTCTCTTTTGAGTAGAATGTAGTTGGTAACTTGACTTCCACCGTCATACTTAGGTGGCTCCCATTTGAGAGTCACACTTTCTTCAGTTATATCACTAATAACAACAGGGCCAGTTGGAGGACCAGGCCTGTCTAGCACAACAATGTTAATGAAAGCTTTGGTTGTACCACTGGAGTTGGCAGCAGTGATTTCATA... | pathogenic | 48,174 |
Clinical significance of chromosome 2, position 178559829, gene TTN: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G'] | TGTTGCAGACACTTCAGTCCACACTGCAGTACTTGTTTCTCTTTTGAGTAGAATGTAGTTGGTAACTTGACTTCCACCGTCATACTTAGGTGGCTCCCATTTGAGAGTCACACTTTCTTCAGTTATATCACTAATAACAACAGGGCCAGTTGGAGGACCAGGCCTGTCTAGCACAACAATGTTAATGAAAGCTTTGGTTGTACCACTGGAGTTGGCAGCAGTGATTTCATATCTCCCAGCGTCAGCTGTAACACTTTCTTTGAGATTGATGGTCAGGTTCTCAGCAGTAATTTCGGTATTAAATCTCATGGTTGCCTTAA... | TGTTGCAGACACTTCAGTCCACACTGCAGTACTTGTTTCTCTTTTGAGTAGAATGTAGTTGGTAACTTGACTTCCACCGTCATACTTAGGTGGCTCCCATTTGAGAGTCACACTTTCTTCAGTTATATCACTAATAACAACAGGGCCAGTTGGAGGACCAGGCCTGTCTAGCACAACAATGTTAATGAAAGCTTTGGTTGTACCACTGGAGTTGGCAGCAGTGATTTCATATCTCCCAGCGTCAGCTGTAACACTTTCTTTGAGATTGATGGTCAGGTTCTCAGCAGTAATTTCGGTATTAAATCTCATGGTTGCCTTAA... | pathogenic | 48,177 |
The genetic variant at chromosome 2, position 178559863, affecting gene TTN: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | GTTTCTCTTTTGAGTAGAATGTAGTTGGTAACTTGACTTCCACCGTCATACTTAGGTGGCTCCCATTTGAGAGTCACACTTTCTTCAGTTATATCACTAATAACAACAGGGCCAGTTGGAGGACCAGGCCTGTCTAGCACAACAATGTTAATGAAAGCTTTGGTTGTACCACTGGAGTTGGCAGCAGTGATTTCATATCTCCCAGCGTCAGCTGTAACACTTTCTTTGAGATTGATGGTCAGGTTCTCAGCAGTAATTTCGGTATTAAATCTCATGGTTGCCTTAAGGGGGACACCATCTCTTGATAAGGTCACTTTGGG... | GTTTCTCTTTTGAGTAGAATGTAGTTGGTAACTTGACTTCCACCGTCATACTTAGGTGGCTCCCATTTGAGAGTCACACTTTCTTCAGTTATATCACTAATAACAACAGGGCCAGTTGGAGGACCAGGCCTGTCTAGCACAACAATGTTAATGAAAGCTTTGGTTGTACCACTGGAGTTGGCAGCAGTGATTTCATATCTCCCAGCGTCAGCTGTAACACTTTCTTTGAGATTGATGGTCAGGTTCTCAGCAGTAATTTCGGTATTAAATCTCATGGTTGCCTTAAGGGGGACACCATCTCTTGATAAGGTCACTTTGGG... | pathogenic | 48,180 |
The chromosome 2, position 178560055 genetic variant in gene TTN: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TCATATCTCCCAGCGTCAGCTGTAACACTTTCTTTGAGATTGATGGTCAGGTTCTCAGCAGTAATTTCGGTATTAAATCTCATGGTTGCCTTAAGGGGGACACCATCTCTTGATAAGGTCACTTTGGGAAGTGGTTTTCCAGAGATTGGAATGTCAACTTTAAGGTTTGAACCAGCTCTAACATATACAGTGTGACTTGGGAAATTCTTCATATCAATTTCAGGTGGTTCTGAAAAATGAGTATAGAAAGTGAAAGTGAAAAAGTGTTTCTGAAAATTAACATAAATCAATGCAAATAATTTCAAATTTTGCTTCTACAC... | TCATATCTCCCAGCGTCAGCTGTAACACTTTCTTTGAGATTGATGGTCAGGTTCTCAGCAGTAATTTCGGTATTAAATCTCATGGTTGCCTTAAGGGGGACACCATCTCTTGATAAGGTCACTTTGGGAAGTGGTTTTCCAGAGATTGGAATGTCAACTTTAAGGTTTGAACCAGCTCTAACATATACAGTGTGACTTGGGAAATTCTTCATATCAATTTCAGGTGGTTCTGAAAAATGAGTATAGAAAGTGAAAGTGAAAAAGTGTTTCTGAAAATTAACATAAATCAATGCAAATAATTTCAAATTTTGCTTCTACAC... | pathogenic | 48,189 |
Is chromosome 2, position 178560423, 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'] | CTCTCTCGGGTCACTCAGGCCAGCTTGATTTTCAGCAAACACTCGGAAAAAGTATTCAGAATTCTCTCTCAGACCGGAAACAACGTGATGGGTTGACTTTGCCACTGCACATTTAACCCAGTTTTTCTGTCCTTTTTCTAGTGCTTCAACGACATAGTGTACAATTCTGCTTCCGCCATCATGTTCAGGCTTCAGCCAGGTCAGGGAAACACTGTCTTTGGATATACTTGTTACTCCAAGTTTTTCAGGTGGGCTTGGTTTTTCTAAGAAAACAAAGCATCAAAAGAAAGTGAATAATTATTACAGCACTTTTAAATGTG... | CTCTCTCGGGTCACTCAGGCCAGCTTGATTTTCAGCAAACACTCGGAAAAAGTATTCAGAATTCTCTCTCAGACCGGAAACAACGTGATGGGTTGACTTTGCCACTGCACATTTAACCCAGTTTTTCTGTCCTTTTTCTAGTGCTTCAACGACATAGTGTACAATTCTGCTTCCGCCATCATGTTCAGGCTTCAGCCAGGTCAGGGAAACACTGTCTTTGGATATACTTGTTACTCCAAGTTTTTCAGGTGGGCTTGGTTTTTCTAAGAAAACAAAGCATCAAAAGAAAGTGAATAATTATTACAGCACTTTTAAATGTG... | pathogenic | 48,205 |
Determine whether the variant at chromosome 2, position 178560479, in gene TTN is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CAGAATTCTCTCTCAGACCGGAAACAACGTGATGGGTTGACTTTGCCACTGCACATTTAACCCAGTTTTTCTGTCCTTTTTCTAGTGCTTCAACGACATAGTGTACAATTCTGCTTCCGCCATCATGTTCAGGCTTCAGCCAGGTCAGGGAAACACTGTCTTTGGATATACTTGTTACTCCAAGTTTTTCAGGTGGGCTTGGTTTTTCTAAGAAAACAAAGCATCAAAAGAAAGTGAATAATTATTACAGCACTTTTAAATGTGCACTCTTCATGTATTGTCAAAAGAAAACTTTTAAATGAAGGCCATATTTTTATGTT... | CAGAATTCTCTCTCAGACCGGAAACAACGTGATGGGTTGACTTTGCCACTGCACATTTAACCCAGTTTTTCTGTCCTTTTTCTAGTGCTTCAACGACATAGTGTACAATTCTGCTTCCGCCATCATGTTCAGGCTTCAGCCAGGTCAGGGAAACACTGTCTTTGGATATACTTGTTACTCCAAGTTTTTCAGGTGGGCTTGGTTTTTCTAAGAAAACAAAGCATCAAAAGAAAGTGAATAATTATTACAGCACTTTTAAATGTGCACTCTTCATGTATTGTCAAAAGAAAACTTTTAAATGAAGGCCATATTTTTATGTT... | pathogenic | 48,209 |
For chromosome 2, position 178560512, gene TTN: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_familial_dilated_cardiomyopathy'] | GGGTTGACTTTGCCACTGCACATTTAACCCAGTTTTTCTGTCCTTTTTCTAGTGCTTCAACGACATAGTGTACAATTCTGCTTCCGCCATCATGTTCAGGCTTCAGCCAGGTCAGGGAAACACTGTCTTTGGATATACTTGTTACTCCAAGTTTTTCAGGTGGGCTTGGTTTTTCTAAGAAAACAAAGCATCAAAAGAAAGTGAATAATTATTACAGCACTTTTAAATGTGCACTCTTCATGTATTGTCAAAAGAAAACTTTTAAATGAAGGCCATATTTTTATGTTGATTTTAGTCTTCCTTTTTACATAACCCATTTT... | GGGTTGACTTTGCCACTGCACATTTAACCCAGTTTTTCTGTCCTTTTTCTAGTGCTTCAACGACATAGTGTACAATTCTGCTTCCGCCATCATGTTCAGGCTTCAGCCAGGTCAGGGAAACACTGTCTTTGGATATACTTGTTACTCCAAGTTTTTCAGGTGGGCTTGGTTTTTCTAAGAAAACAAAGCATCAAAAGAAAGTGAATAATTATTACAGCACTTTTAAATGTGCACTCTTCATGTATTGTCAAAAGAAAACTTTTAAATGAAGGCCATATTTTTATGTTGATTTTAGTCTTCCTTTTTACATAACCCATTTT... | pathogenic | 48,210 |
Is the genetic variant on chromosome 2, position 178560612, gene TTN, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | CTTCAGCCAGGTCAGGGAAACACTGTCTTTGGATATACTTGTTACTCCAAGTTTTTCAGGTGGGCTTGGTTTTTCTAAGAAAACAAAGCATCAAAAGAAAGTGAATAATTATTACAGCACTTTTAAATGTGCACTCTTCATGTATTGTCAAAAGAAAACTTTTAAATGAAGGCCATATTTTTATGTTGATTTTAGTCTTCCTTTTTACATAACCCATTTTGCTTCTGAACCAACCAAGGCTCCCACAAGCTATGTCATTACATGCTATAGCATTCAAATCCAAATTAAGGGTAAAATGACCAGATTAAATGATAAAATTT... | CTTCAGCCAGGTCAGGGAAACACTGTCTTTGGATATACTTGTTACTCCAAGTTTTTCAGGTGGGCTTGGTTTTTCTAAGAAAACAAAGCATCAAAAGAAAGTGAATAATTATTACAGCACTTTTAAATGTGCACTCTTCATGTATTGTCAAAAGAAAACTTTTAAATGAAGGCCATATTTTTATGTTGATTTTAGTCTTCCTTTTTACATAACCCATTTTGCTTCTGAACCAACCAAGGCTCCCACAAGCTATGTCATTACATGCTATAGCATTCAAATCCAAATTAAGGGTAAAATGACCAGATTAAATGATAAAATTT... | pathogenic | 48,213 |
Chromosome 2, position 178560645, gene TTN: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TATACTTGTTACTCCAAGTTTTTCAGGTGGGCTTGGTTTTTCTAAGAAAACAAAGCATCAAAAGAAAGTGAATAATTATTACAGCACTTTTAAATGTGCACTCTTCATGTATTGTCAAAAGAAAACTTTTAAATGAAGGCCATATTTTTATGTTGATTTTAGTCTTCCTTTTTACATAACCCATTTTGCTTCTGAACCAACCAAGGCTCCCACAAGCTATGTCATTACATGCTATAGCATTCAAATCCAAATTAAGGGTAAAATGACCAGATTAAATGATAAAATTTACTCCAAATTCACCATGGGGATAAAAAAGAGGA... | TATACTTGTTACTCCAAGTTTTTCAGGTGGGCTTGGTTTTTCTAAGAAAACAAAGCATCAAAAGAAAGTGAATAATTATTACAGCACTTTTAAATGTGCACTCTTCATGTATTGTCAAAAGAAAACTTTTAAATGAAGGCCATATTTTTATGTTGATTTTAGTCTTCCTTTTTACATAACCCATTTTGCTTCTGAACCAACCAAGGCTCCCACAAGCTATGTCATTACATGCTATAGCATTCAAATCCAAATTAAGGGTAAAATGACCAGATTAAATGATAAAATTTACTCCAAATTCACCATGGGGATAAAAAAGAGGA... | pathogenic | 48,218 |
Mutation found at chromosome 2 position 178560722, 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'] | ATTACAGCACTTTTAAATGTGCACTCTTCATGTATTGTCAAAAGAAAACTTTTAAATGAAGGCCATATTTTTATGTTGATTTTAGTCTTCCTTTTTACATAACCCATTTTGCTTCTGAACCAACCAAGGCTCCCACAAGCTATGTCATTACATGCTATAGCATTCAAATCCAAATTAAGGGTAAAATGACCAGATTAAATGATAAAATTTACTCCAAATTCACCATGGGGATAAAAAAGAGGAACAAGATGAACAATCTTTTAAAAAACTTTATATACAATTTCTGTACACACGCACATACACACATATGATATATGTCA... | ATTACAGCACTTTTAAATGTGCACTCTTCATGTATTGTCAAAAGAAAACTTTTAAATGAAGGCCATATTTTTATGTTGATTTTAGTCTTCCTTTTTACATAACCCATTTTGCTTCTGAACCAACCAAGGCTCCCACAAGCTATGTCATTACATGCTATAGCATTCAAATCCAAATTAAGGGTAAAATGACCAGATTAAATGATAAAATTTACTCCAAATTCACCATGGGGATAAAAAAGAGGAACAAGATGAACAATCTTTTAAAAAACTTTATATACAATTTCTGTACACACGCACATACACACATATGATATATGTCA... | pathogenic | 48,222 |
The mutation in gene TTN at chromosome 2, position 178560928—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Primary_dilated_cardiomyopathy'] | ATTTACTCCAAATTCACCATGGGGATAAAAAAGAGGAACAAGATGAACAATCTTTTAAAAAACTTTATATACAATTTCTGTACACACGCACATACACACATATGATATATGTCATACACACATACTATATATATATAATCTGTGTATATATATATATAAACATGTATACCTACATATATATACAGTTAGATTCAATAATACTTAAATTCAACATATATTATCCAATTTTAGCTACGTAAATTTCTGTTTTTTTAATCAATGAAAGACTCTTCACTAGAGATTCCATTTTGTGCCATAGTATGAATAGTTTGGGGTGTGAA... | ATTTACTCCAAATTCACCATGGGGATAAAAAAGAGGAACAAGATGAACAATCTTTTAAAAAACTTTATATACAATTTCTGTACACACGCACATACACACATATGATATATGTCATACACACATACTATATATATATAATCTGTGTATATATATATATAAACATGTATACCTACATATATATACAGTTAGATTCAATAATACTTAAATTCAACATATATTATCCAATTTTAGCTACGTAAATTTCTGTTTTTTTAATCAATGAAAGACTCTTCACTAGAGATTCCATTTTGTGCCATAGTATGAATAGTTTGGGGTGTGAA... | pathogenic | 48,230 |
The chromosome 2, position 178561120 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', 'Primary_dilated_cardiomyopathy'] | CAATAATACTTAAATTCAACATATATTATCCAATTTTAGCTACGTAAATTTCTGTTTTTTTAATCAATGAAAGACTCTTCACTAGAGATTCCATTTTGTGCCATAGTATGAATAGTTTGGGGTGTGAAGGGTGTGAACCCAAAAGCATTTAAGATGAAATAACGACTAATTAGAATGACTCACACTATTCTAGCAAAATTAACGTGGATATGTAGAATTTCCTTATTCTTAAAACATACCTGTTATTTTTACTCCTTCCTTTGTTTCAGCTGGTATACCAACACCAAACTCATTTTCTCCAGAGACTCTGAAGTAATAGA... | CAATAATACTTAAATTCAACATATATTATCCAATTTTAGCTACGTAAATTTCTGTTTTTTTAATCAATGAAAGACTCTTCACTAGAGATTCCATTTTGTGCCATAGTATGAATAGTTTGGGGTGTGAAGGGTGTGAACCCAAAAGCATTTAAGATGAAATAACGACTAATTAGAATGACTCACACTATTCTAGCAAAATTAACGTGGATATGTAGAATTTCCTTATTCTTAAAACATACCTGTTATTTTTACTCCTTCCTTTGTTTCAGCTGGTATACCAACACCAAACTCATTTTCTCCAGAGACTCTGAAGTAATAGA... | pathogenic | 48,241 |
The mutation impacting TTN on chromosome 2 at position 178561312: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | GCAAAATTAACGTGGATATGTAGAATTTCCTTATTCTTAAAACATACCTGTTATTTTTACTCCTTCCTTTGTTTCAGCTGGTATACCAACACCAAACTCATTTTCTCCAGAGACTCTGAAGTAATAGATAGCTCCTTCTTGTAAATTGGTAACTTTGTAGGAGAGGCGGTTACAGTTGTTGGTCACAGAGACCCATGCTTTCTTGCTGGCCTCACGTTTTTCTATGTGGTAATTCTTCACTGGTGCTCCACCATCGTTTTCAGGAACATCCCAGGATAACACTGCAGACTCTTTGGTTACATCTTGCACAGTAATGTTGG... | GCAAAATTAACGTGGATATGTAGAATTTCCTTATTCTTAAAACATACCTGTTATTTTTACTCCTTCCTTTGTTTCAGCTGGTATACCAACACCAAACTCATTTTCTCCAGAGACTCTGAAGTAATAGATAGCTCCTTCTTGTAAATTGGTAACTTTGTAGGAGAGGCGGTTACAGTTGTTGGTCACAGAGACCCATGCTTTCTTGCTGGCCTCACGTTTTTCTATGTGGTAATTCTTCACTGGTGCTCCACCATCGTTTTCAGGAACATCCCAGGATAACACTGCAGACTCTTTGGTTACATCTTGCACAGTAATGTTGG... | pathogenic | 48,248 |
Evaluate this variant at chromosome 2, position 178561542, gene TTN: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AATTCTTCACTGGTGCTCCACCATCGTTTTCAGGAACATCCCAGGATAACACTGCAGACTCTTTGGTTACATCTTGCACAGTAATGTTGGTTGGAGGACCTGGGGTATCTAAAACTTTGACAACTAAGGTCAGTGAAGCAGCACTCAAAACATTCTGAATTGTTAATGTGTACTTTCCAGAGTCATTTCTGTTGGCATTTTCAATGGTCAGTGATGTACGAGAGTCTGTGGTATCAACATAAGCTCTAGTACGGAGGTCAGTGTCTGGCTTACTCCACAAGACATTGGGTACTGGTCTTCCTCGGAAAGGCACAGTCATG... | AATTCTTCACTGGTGCTCCACCATCGTTTTCAGGAACATCCCAGGATAACACTGCAGACTCTTTGGTTACATCTTGCACAGTAATGTTGGTTGGAGGACCTGGGGTATCTAAAACTTTGACAACTAAGGTCAGTGAAGCAGCACTCAAAACATTCTGAATTGTTAATGTGTACTTTCCAGAGTCATTTCTGTTGGCATTTTCAATGGTCAGTGATGTACGAGAGTCTGTGGTATCAACATAAGCTCTAGTACGGAGGTCAGTGTCTGGCTTACTCCACAAGACATTGGGTACTGGTCTTCCTCGGAAAGGCACAGTCATG... | pathogenic | 48,258 |
Variant in TTN, chromosome 2, position 178561627—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | GTTGGTTGGAGGACCTGGGGTATCTAAAACTTTGACAACTAAGGTCAGTGAAGCAGCACTCAAAACATTCTGAATTGTTAATGTGTACTTTCCAGAGTCATTTCTGTTGGCATTTTCAATGGTCAGTGATGTACGAGAGTCTGTGGTATCAACATAAGCTCTAGTACGGAGGTCAGTGTCTGGCTTACTCCACAAGACATTGGGTACTGGTCTTCCTCGGAAAGGCACAGTCATGGTAAATGAGGCACCAGCCTTGACAATCAAGGTCTTCCTCATTTCACTGTCAATATCAAATAAAGGTTCTTCTTCTCTTTCCTTTG... | GTTGGTTGGAGGACCTGGGGTATCTAAAACTTTGACAACTAAGGTCAGTGAAGCAGCACTCAAAACATTCTGAATTGTTAATGTGTACTTTCCAGAGTCATTTCTGTTGGCATTTTCAATGGTCAGTGATGTACGAGAGTCTGTGGTATCAACATAAGCTCTAGTACGGAGGTCAGTGTCTGGCTTACTCCACAAGACATTGGGTACTGGTCTTCCTCGGAAAGGCACAGTCATGGTAAATGAGGCACCAGCCTTGACAATCAAGGTCTTCCTCATTTCACTGTCAATATCAAATAAAGGTTCTTCTTCTCTTTCCTTTG... | pathogenic | 48,260 |
Evaluate this variant at chromosome 2, position 178561649, 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'] | TCTAAAACTTTGACAACTAAGGTCAGTGAAGCAGCACTCAAAACATTCTGAATTGTTAATGTGTACTTTCCAGAGTCATTTCTGTTGGCATTTTCAATGGTCAGTGATGTACGAGAGTCTGTGGTATCAACATAAGCTCTAGTACGGAGGTCAGTGTCTGGCTTACTCCACAAGACATTGGGTACTGGTCTTCCTCGGAAAGGCACAGTCATGGTAAATGAGGCACCAGCCTTGACAATCAAGGTCTTCCTCATTTCACTGTCAATATCAAATAAAGGTTCTTCTTCTCTTTCCTTTGCTATCTGAGGGTCAGAGCTATC... | TCTAAAACTTTGACAACTAAGGTCAGTGAAGCAGCACTCAAAACATTCTGAATTGTTAATGTGTACTTTCCAGAGTCATTTCTGTTGGCATTTTCAATGGTCAGTGATGTACGAGAGTCTGTGGTATCAACATAAGCTCTAGTACGGAGGTCAGTGTCTGGCTTACTCCACAAGACATTGGGTACTGGTCTTCCTCGGAAAGGCACAGTCATGGTAAATGAGGCACCAGCCTTGACAATCAAGGTCTTCCTCATTTCACTGTCAATATCAAATAAAGGTTCTTCTTCTCTTTCCTTTGCTATCTGAGGGTCAGAGCTATC... | pathogenic | 48,262 |
Benign or pathogenic: chromosome 2, position 178561766, gene TTN variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TCTGTGGTATCAACATAAGCTCTAGTACGGAGGTCAGTGTCTGGCTTACTCCACAAGACATTGGGTACTGGTCTTCCTCGGAAAGGCACAGTCATGGTAAATGAGGCACCAGCCTTGACAATCAAGGTCTTCCTCATTTCACTGTCAATATCAAATAAAGGTTCTTCTTCTCTTTCCTTTGCTATCTGAGGGTCAGAGCTATCACTGGGGTCACTAGCACCAACCTTATTGACAGATTTTACTCTGAAAACATATTCAGCTCCTGTTGTTAGTCCGCTTATTGTATATTCTGTCCCTCGTAAGCTCTGAATGGAAGTTTT... | TCTGTGGTATCAACATAAGCTCTAGTACGGAGGTCAGTGTCTGGCTTACTCCACAAGACATTGGGTACTGGTCTTCCTCGGAAAGGCACAGTCATGGTAAATGAGGCACCAGCCTTGACAATCAAGGTCTTCCTCATTTCACTGTCAATATCAAATAAAGGTTCTTCTTCTCTTTCCTTTGCTATCTGAGGGTCAGAGCTATCACTGGGGTCACTAGCACCAACCTTATTGACAGATTTTACTCTGAAAACATATTCAGCTCCTGTTGTTAGTCCGCTTATTGTATATTCTGTCCCTCGTAAGCTCTGAATGGAAGTTTT... | pathogenic | 48,271 |
Chromosome 2, position 178561834, 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'] | TGGTCTTCCTCGGAAAGGCACAGTCATGGTAAATGAGGCACCAGCCTTGACAATCAAGGTCTTCCTCATTTCACTGTCAATATCAAATAAAGGTTCTTCTTCTCTTTCCTTTGCTATCTGAGGGTCAGAGCTATCACTGGGGTCACTAGCACCAACCTTATTGACAGATTTTACTCTGAAAACATATTCAGCTCCTGTTGTTAGTCCGCTTATTGTATATTCTGTCCCTCGTAAGCTCTGAATGGAAGTTTTCCAGTCAGTGTCATCAGATTTTTTGTATTCTACAGTATATCCAGTTATCGGGGCCCCACCATCAAACA... | TGGTCTTCCTCGGAAAGGCACAGTCATGGTAAATGAGGCACCAGCCTTGACAATCAAGGTCTTCCTCATTTCACTGTCAATATCAAATAAAGGTTCTTCTTCTCTTTCCTTTGCTATCTGAGGGTCAGAGCTATCACTGGGGTCACTAGCACCAACCTTATTGACAGATTTTACTCTGAAAACATATTCAGCTCCTGTTGTTAGTCCGCTTATTGTATATTCTGTCCCTCGTAAGCTCTGAATGGAAGTTTTCCAGTCAGTGTCATCAGATTTTTTGTATTCTACAGTATATCCAGTTATCGGGGCCCCACCATCAAACA... | pathogenic | 48,273 |
Is chromosome 2, position 178562021, 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'] | TCAGCTCCTGTTGTTAGTCCGCTTATTGTATATTCTGTCCCTCGTAAGCTCTGAATGGAAGTTTTCCAGTCAGTGTCATCAGATTTTTTGTATTCTACAGTATATCCAGTTATCGGGGCCCCACCATCAAACAGCGGCTTAACCCAGGCAATAGTTATAGTTGTCTTGCCTGAGTCCACAATTTTGGGTTTGGATGGAGGAGATGGTAGGAACACTGGATCTTCTGCCCTAATTAAGGGAGAGGTTTCACTTGGAAGACTTAGGCCAGCAGCATTTTCTGCATAAACACGATATTCATATTCACATCCTTCCCGAAGTCC... | TCAGCTCCTGTTGTTAGTCCGCTTATTGTATATTCTGTCCCTCGTAAGCTCTGAATGGAAGTTTTCCAGTCAGTGTCATCAGATTTTTTGTATTCTACAGTATATCCAGTTATCGGGGCCCCACCATCAAACAGCGGCTTAACCCAGGCAATAGTTATAGTTGTCTTGCCTGAGTCCACAATTTTGGGTTTGGATGGAGGAGATGGTAGGAACACTGGATCTTCTGCCCTAATTAAGGGAGAGGTTTCACTTGGAAGACTTAGGCCAGCAGCATTTTCTGCATAAACACGATATTCATATTCACATCCTTCCCGAAGTCC... | pathogenic | 48,281 |
Considering the variant on chromosome 2, location 178562065, involving gene TTN, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TAAGCTCTGAATGGAAGTTTTCCAGTCAGTGTCATCAGATTTTTTGTATTCTACAGTATATCCAGTTATCGGGGCCCCACCATCAAACAGCGGCTTAACCCAGGCAATAGTTATAGTTGTCTTGCCTGAGTCCACAATTTTGGGTTTGGATGGAGGAGATGGTAGGAACACTGGATCTTCTGCCCTAATTAAGGGAGAGGTTTCACTTGGAAGACTTAGGCCAGCAGCATTTTCTGCATAAACACGATATTCATATTCACATCCTTCCCGAAGTCCTGTTGATTTCACTCTTAGATCATAAACTGGTTTTTTGTTTACAC... | TAAGCTCTGAATGGAAGTTTTCCAGTCAGTGTCATCAGATTTTTTGTATTCTACAGTATATCCAGTTATCGGGGCCCCACCATCAAACAGCGGCTTAACCCAGGCAATAGTTATAGTTGTCTTGCCTGAGTCCACAATTTTGGGTTTGGATGGAGGAGATGGTAGGAACACTGGATCTTCTGCCCTAATTAAGGGAGAGGTTTCACTTGGAAGACTTAGGCCAGCAGCATTTTCTGCATAAACACGATATTCATATTCACATCCTTCCCGAAGTCCTGTTGATTTCACTCTTAGATCATAAACTGGTTTTTTGTTTACAC... | pathogenic | 48,283 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 178562296, gene TTN. What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TTCTGCATAAACACGATATTCATATTCACATCCTTCCCGAAGTCCTGTTGATTTCACTCTTAGATCATAAACTGGTTTTTTGTTTACACGCACCCATCTTAGGCTATTTTTCTCTCGCCTTTCAATTATATATCCAGATATTTCACTACCTCCATCACTCTCGGGTCTTGACCAGCAAAGTGTCATAGATTCTTTGGTCACAGAAGTAATTTCCAAAGACGTGGGTGGACTTGGAACTGTAAATGGATCTAGTGCCTTTATAGCTACACTCTCTAGGGGCTCACCAACACCATATTTATTAACACCAGTTACTCTAAATA... | TTCTGCATAAACACGATATTCATATTCACATCCTTCCCGAAGTCCTGTTGATTTCACTCTTAGATCATAAACTGGTTTTTTGTTTACACGCACCCATCTTAGGCTATTTTTCTCTCGCCTTTCAATTATATATCCAGATATTTCACTACCTCCATCACTCTCGGGTCTTGACCAGCAAAGTGTCATAGATTCTTTGGTCACAGAAGTAATTTCCAAAGACGTGGGTGGACTTGGAACTGTAAATGGATCTAGTGCCTTTATAGCTACACTCTCTAGGGGCTCACCAACACCATATTTATTAACACCAGTTACTCTAAATA... | pathogenic | 48,290 |
Regarding the variant at chromosome 2 and position 178562380, 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'] | TACACGCACCCATCTTAGGCTATTTTTCTCTCGCCTTTCAATTATATATCCAGATATTTCACTACCTCCATCACTCTCGGGTCTTGACCAGCAAAGTGTCATAGATTCTTTGGTCACAGAAGTAATTTCCAAAGACGTGGGTGGACTTGGAACTGTAAATGGATCTAGTGCCTTTATAGCTACACTCTCTAGGGGCTCACCAACACCATATTTATTAACACCAGTTACTCTAAATATATATTCATTGCCTTTGAGTAACTTGGTTACTTTACAGGATGTCATCTGTAACTCTCCTTCACATATTGTCCATGCAAGGTGGC... | TACACGCACCCATCTTAGGCTATTTTTCTCTCGCCTTTCAATTATATATCCAGATATTTCACTACCTCCATCACTCTCGGGTCTTGACCAGCAAAGTGTCATAGATTCTTTGGTCACAGAAGTAATTTCCAAAGACGTGGGTGGACTTGGAACTGTAAATGGATCTAGTGCCTTTATAGCTACACTCTCTAGGGGCTCACCAACACCATATTTATTAACACCAGTTACTCTAAATATATATTCATTGCCTTTGAGTAACTTGGTTACTTTACAGGATGTCATCTGTAACTCTCCTTCACATATTGTCCATGCAAGGTGGC... | pathogenic | 48,295 |
Is the genetic variant on chromosome 2, position 178562528, gene TTN, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | GGAACTGTAAATGGATCTAGTGCCTTTATAGCTACACTCTCTAGGGGCTCACCAACACCATATTTATTAACACCAGTTACTCTAAATATATATTCATTGCCTTTGAGTAACTTGGTTACTTTACAGGATGTCATCTGTAACTCTCCTTCACATATTGTCCATGCAAGGTGGCTTGTTTCACGTTTTTCTACGATGTAATAGTCGATATCTGCACCACCATCTTCTTGGGGACGTCCCCAGGAAAGAGAGCATTTCTCAGCAGTGAGGCCATTTATTTCAAGTGGTCCTGCTGGTGGACCAGGCTTATCAAGTACTTTGCA... | GGAACTGTAAATGGATCTAGTGCCTTTATAGCTACACTCTCTAGGGGCTCACCAACACCATATTTATTAACACCAGTTACTCTAAATATATATTCATTGCCTTTGAGTAACTTGGTTACTTTACAGGATGTCATCTGTAACTCTCCTTCACATATTGTCCATGCAAGGTGGCTTGTTTCACGTTTTTCTACGATGTAATAGTCGATATCTGCACCACCATCTTCTTGGGGACGTCCCCAGGAAAGAGAGCATTTCTCAGCAGTGAGGCCATTTATTTCAAGTGGTCCTGCTGGTGGACCAGGCTTATCAAGTACTTTGCA... | pathogenic | 48,302 |
Clinically, how would you classify the variant at chromosome 2, position 178562747, gene TTN: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TCTTCTTGGGGACGTCCCCAGGAAAGAGAGCATTTCTCAGCAGTGAGGCCATTTATTTCAAGTGGTCCTGCTGGTGGACCAGGCTTATCAAGTACTTTGCAATTAACGGCCACAGACCGAGTGCCGGCAACATTCTTCAGTGTTAGTACATATTGCCCAGTGTCTCGTCTTATACAGTCTTTAACTGTTAACAAAGTATGATTGTCTGTTGAGATGATTTCTGTTCTTGCTCTTTCTTCAATTTCTATACCATCCTTGGCCCAGGAAATTACTGGCAGAGGTCGCCCTGCAATGTCTGCATTTATCTTAAGGACCTCTCC... | TCTTCTTGGGGACGTCCCCAGGAAAGAGAGCATTTCTCAGCAGTGAGGCCATTTATTTCAAGTGGTCCTGCTGGTGGACCAGGCTTATCAAGTACTTTGCAATTAACGGCCACAGACCGAGTGCCGGCAACATTCTTCAGTGTTAGTACATATTGCCCAGTGTCTCGTCTTATACAGTCTTTAACTGTTAACAAAGTATGATTGTCTGTTGAGATGATTTCTGTTCTTGCTCTTTCTTCAATTTCTATACCATCCTTGGCCCAGGAAATTACTGGCAGAGGTCGCCCTGCAATGTCTGCATTTATCTTAAGGACCTCTCC... | pathogenic | 48,315 |
The mutation in gene TTN at chromosome 2, position 178562807—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Tibial_muscular_dystrophy'] | AGTGGTCCTGCTGGTGGACCAGGCTTATCAAGTACTTTGCAATTAACGGCCACAGACCGAGTGCCGGCAACATTCTTCAGTGTTAGTACATATTGCCCAGTGTCTCGTCTTATACAGTCTTTAACTGTTAACAAAGTATGATTGTCTGTTGAGATGATTTCTGTTCTTGCTCTTTCTTCAATTTCTATACCATCCTTGGCCCAGGAAATTACTGGCAGAGGTCGCCCTGCAATGTCTGCATTTATCTTAAGGACCTCTCCAGCTTTGACAACAATAACGTCTCGGAACTTGACATCCATCATAACTCTTGGAGGCTCAAC... | AGTGGTCCTGCTGGTGGACCAGGCTTATCAAGTACTTTGCAATTAACGGCCACAGACCGAGTGCCGGCAACATTCTTCAGTGTTAGTACATATTGCCCAGTGTCTCGTCTTATACAGTCTTTAACTGTTAACAAAGTATGATTGTCTGTTGAGATGATTTCTGTTCTTGCTCTTTCTTCAATTTCTATACCATCCTTGGCCCAGGAAATTACTGGCAGAGGTCGCCCTGCAATGTCTGCATTTATCTTAAGGACCTCTCCAGCTTTGACAACAATAACGTCTCGGAACTTGACATCCATCATAACTCTTGGAGGCTCAAC... | pathogenic | 48,317 |
Determine if the mutation at chromosome 2, position 178563058 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', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Tibial_muscular_dystrophy'] | GACCTCTCCAGCTTTGACAACAATAACGTCTCGGAACTTGACATCCATCATAACTCTTGGAGGCTCAACATCATCTTTAACTATAATAGGCCCAGTGGATTCAGATGGCTCACTAACTGAGTCAGCAGCATTCCTTGCAAAAACCCGGAATTCATAACGCTGATCTTCAGTAAGTTCAGTTACTTCAAAGTATGTTTCTTGTATATTAGTATAATTGCACTTCAGCCACCGGCCATCTGGTAGTTCTCTGCGTTCAACAATGTATCCTGTGATCTTAGCTCCACCATCATAATGTGGTTTAGACCATTTAAGTGACACTG... | GACCTCTCCAGCTTTGACAACAATAACGTCTCGGAACTTGACATCCATCATAACTCTTGGAGGCTCAACATCATCTTTAACTATAATAGGCCCAGTGGATTCAGATGGCTCACTAACTGAGTCAGCAGCATTCCTTGCAAAAACCCGGAATTCATAACGCTGATCTTCAGTAAGTTCAGTTACTTCAAAGTATGTTTCTTGTATATTAGTATAATTGCACTTCAGCCACCGGCCATCTGGTAGTTCTCTGCGTTCAACAATGTATCCTGTGATCTTAGCTCCACCATCATAATGTGGTTTAGACCATTTAAGTGACACTG... | pathogenic | 48,332 |
A genetic variant on chromosome 2, position 178563219, 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', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G'] | GATCTTCAGTAAGTTCAGTTACTTCAAAGTATGTTTCTTGTATATTAGTATAATTGCACTTCAGCCACCGGCCATCTGGTAGTTCTCTGCGTTCAACAATGTATCCTGTGATCTTAGCTCCACCATCATAATGTGGTTTAGACCATTTAAGTGACACTGATTTTCTTGTGATATTTGTGACTTCAGGTTGTCCAGGAGGGTCACAAGGATCTCTTGCAGGGACTGGTTCACAAGATTTACTGCATTTACCAATTCCAGCAATATTTTCAGCATATACACGATACTCATACATCAGTCCTTCATCAAGGCCGGAGACTTTC... | GATCTTCAGTAAGTTCAGTTACTTCAAAGTATGTTTCTTGTATATTAGTATAATTGCACTTCAGCCACCGGCCATCTGGTAGTTCTCTGCGTTCAACAATGTATCCTGTGATCTTAGCTCCACCATCATAATGTGGTTTAGACCATTTAAGTGACACTGATTTTCTTGTGATATTTGTGACTTCAGGTTGTCCAGGAGGGTCACAAGGATCTCTTGCAGGGACTGGTTCACAAGATTTACTGCATTTACCAATTCCAGCAATATTTTCAGCATATACACGATACTCATACATCAGTCCTTCATCAAGGCCGGAGACTTTC... | pathogenic | 48,341 |
Considering the genetic mutation at chromosome 2, position 178563235, 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'] | AGTTACTTCAAAGTATGTTTCTTGTATATTAGTATAATTGCACTTCAGCCACCGGCCATCTGGTAGTTCTCTGCGTTCAACAATGTATCCTGTGATCTTAGCTCCACCATCATAATGTGGTTTAGACCATTTAAGTGACACTGATTTTCTTGTGATATTTGTGACTTCAGGTTGTCCAGGAGGGTCACAAGGATCTCTTGCAGGGACTGGTTCACAAGATTTACTGCATTTACCAATTCCAGCAATATTTTCAGCATATACACGATACTCATACATCAGTCCTTCATCAAGGCCGGAGACTTTCATTTGAGTATCAGCAA... | AGTTACTTCAAAGTATGTTTCTTGTATATTAGTATAATTGCACTTCAGCCACCGGCCATCTGGTAGTTCTCTGCGTTCAACAATGTATCCTGTGATCTTAGCTCCACCATCATAATGTGGTTTAGACCATTTAAGTGACACTGATTTTCTTGTGATATTTGTGACTTCAGGTTGTCCAGGAGGGTCACAAGGATCTCTTGCAGGGACTGGTTCACAAGATTTACTGCATTTACCAATTCCAGCAATATTTTCAGCATATACACGATACTCATACATCAGTCCTTCATCAAGGCCGGAGACTTTCATTTGAGTATCAGCAA... | pathogenic | 48,344 |
Does the genetic variant at chromosome 2, position 178563533, impacting gene TTN, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | ACTTTCATTTGAGTATCAGCAATGAGGATTTTATTTGCTTTTGACCAAAGAATGCTGCTTCTTTCTTTATACTCAAGATGATAGCCAATTACTCGACTTCCTCCATCATTAACTGGCACTTGCCAGGTTACAAGCATGGTAGATTTTGTGGCATGCACAACTTTAGGAGTACCAGGAGGACCTGGGGGACTGAATGGATACTCTGCAACAACAGCTGAAGATTCACTGTAGGAGCTCTTTCCATAGCGGTTTTCTGCACAAACACGGAACTGATACTCACTTCCTGTTGTCAGGCGAACTATTTTAATGGATGTTCTTGC... | ACTTTCATTTGAGTATCAGCAATGAGGATTTTATTTGCTTTTGACCAAAGAATGCTGCTTCTTTCTTTATACTCAAGATGATAGCCAATTACTCGACTTCCTCCATCATTAACTGGCACTTGCCAGGTTACAAGCATGGTAGATTTTGTGGCATGCACAACTTTAGGAGTACCAGGAGGACCTGGGGGACTGAATGGATACTCTGCAACAACAGCTGAAGATTCACTGTAGGAGCTCTTTCCATAGCGGTTTTCTGCACAAACACGGAACTGATACTCACTTCCTGTTGTCAGGCGAACTATTTTAATGGATGTTCTTGC... | pathogenic | 48,362 |
Is the variant located on chromosome 2 at position 178563537, 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'] | TCATTTGAGTATCAGCAATGAGGATTTTATTTGCTTTTGACCAAAGAATGCTGCTTCTTTCTTTATACTCAAGATGATAGCCAATTACTCGACTTCCTCCATCATTAACTGGCACTTGCCAGGTTACAAGCATGGTAGATTTTGTGGCATGCACAACTTTAGGAGTACCAGGAGGACCTGGGGGACTGAATGGATACTCTGCAACAACAGCTGAAGATTCACTGTAGGAGCTCTTTCCATAGCGGTTTTCTGCACAAACACGGAACTGATACTCACTTCCTGTTGTCAGGCGAACTATTTTAATGGATGTTCTTGCAACT... | TCATTTGAGTATCAGCAATGAGGATTTTATTTGCTTTTGACCAAAGAATGCTGCTTCTTTCTTTATACTCAAGATGATAGCCAATTACTCGACTTCCTCCATCATTAACTGGCACTTGCCAGGTTACAAGCATGGTAGATTTTGTGGCATGCACAACTTTAGGAGTACCAGGAGGACCTGGGGGACTGAATGGATACTCTGCAACAACAGCTGAAGATTCACTGTAGGAGCTCTTTCCATAGCGGTTTTCTGCACAAACACGGAACTGATACTCACTTCCTGTTGTCAGGCGAACTATTTTAATGGATGTTCTTGCAACT... | pathogenic | 48,363 |
Clinical significance of chromosome 2, position 178563938, gene TTN: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TATTCTGGAGGATTCCAAGAAATGGTTATGCTGTCACAACTAACCTCATCAATACGTATAGGACCTGGAGGTCCTGGTCTGTCAAGGACAATTATAGTAATAGGAACTGTTATGGATCCAGCACTGTTTGAAACACATAATTCATAAGTTCCAACATCTTCCTTTGAAGCTTCCTTAATAGATAGTGATGTTACAGTCTTTGAAGAAGAAACATTGACTCTAGTTGTCTCTTTAAGAGTCTGACCATCTTTTCTCCAGTTCACAGTAGCTTGAGGTCTTCCTTTGAATGGCACATCAATCTTAAGTTGTTCTCTAGCCTT... | TATTCTGGAGGATTCCAAGAAATGGTTATGCTGTCACAACTAACCTCATCAATACGTATAGGACCTGGAGGTCCTGGTCTGTCAAGGACAATTATAGTAATAGGAACTGTTATGGATCCAGCACTGTTTGAAACACATAATTCATAAGTTCCAACATCTTCCTTTGAAGCTTCCTTAATAGATAGTGATGTTACAGTCTTTGAAGAAGAAACATTGACTCTAGTTGTCTCTTTAAGAGTCTGACCATCTTTTCTCCAGTTCACAGTAGCTTGAGGTCTTCCTTTGAATGGCACATCAATCTTAAGTTGTTCTCTAGCCTT... | pathogenic | 48,380 |
Considering the genetic mutation at chromosome 2, position 178563945, impacting TTN: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | GAGGATTCCAAGAAATGGTTATGCTGTCACAACTAACCTCATCAATACGTATAGGACCTGGAGGTCCTGGTCTGTCAAGGACAATTATAGTAATAGGAACTGTTATGGATCCAGCACTGTTTGAAACACATAATTCATAAGTTCCAACATCTTCCTTTGAAGCTTCCTTAATAGATAGTGATGTTACAGTCTTTGAAGAAGAAACATTGACTCTAGTTGTCTCTTTAAGAGTCTGACCATCTTTTCTCCAGTTCACAGTAGCTTGAGGTCTTCCTTTGAATGGCACATCAATCTTAAGTTGTTCTCTAGCCTTTACATTG... | GAGGATTCCAAGAAATGGTTATGCTGTCACAACTAACCTCATCAATACGTATAGGACCTGGAGGTCCTGGTCTGTCAAGGACAATTATAGTAATAGGAACTGTTATGGATCCAGCACTGTTTGAAACACATAATTCATAAGTTCCAACATCTTCCTTTGAAGCTTCCTTAATAGATAGTGATGTTACAGTCTTTGAAGAAGAAACATTGACTCTAGTTGTCTCTTTAAGAGTCTGACCATCTTTTCTCCAGTTCACAGTAGCTTGAGGTCTTCCTTTGAATGGCACATCAATCTTAAGTTGTTCTCTAGCCTTTACATTG... | pathogenic | 48,381 |
Determine if the mutation at chromosome 2, position 178564245 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', 'Primary_dilated_cardiomyopathy'] | GTTCTCTAGCCTTTACATTGAAAGTATGGAAAGGAAGCTCAACTGAAGGCTTTATTTCAATATCCCTTGCAATTACTGGCACTCCAAGTTGTCTTGGATCACTTCTTCCCTTTTCGTTAACTGCAGCTACCCTGAAGACATACTCTTCTCCTGCAGTTAAGCCAGATATAGTTGCTTCTAGAGTCTTAACTTGTGTGCAGGTGCTCCACTTTTCACTCCCTTTAGTCTGCATTTCAACCACATAACCAGTAATTTTGCTGCCACCATCACTTTCTGGTTTCTCCCACTTAATTGTAGCTGTATTACGGGTCACATCAACA... | GTTCTCTAGCCTTTACATTGAAAGTATGGAAAGGAAGCTCAACTGAAGGCTTTATTTCAATATCCCTTGCAATTACTGGCACTCCAAGTTGTCTTGGATCACTTCTTCCCTTTTCGTTAACTGCAGCTACCCTGAAGACATACTCTTCTCCTGCAGTTAAGCCAGATATAGTTGCTTCTAGAGTCTTAACTTGTGTGCAGGTGCTCCACTTTTCACTCCCTTTAGTCTGCATTTCAACCACATAACCAGTAATTTTGCTGCCACCATCACTTTCTGGTTTCTCCCACTTAATTGTAGCTGTATTACGGGTCACATCAACA... | pathogenic | 48,394 |
Is the chromosome 2, position 178564252 variant in TTN clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Primary_dilated_cardiomyopathy'] | AGCCTTTACATTGAAAGTATGGAAAGGAAGCTCAACTGAAGGCTTTATTTCAATATCCCTTGCAATTACTGGCACTCCAAGTTGTCTTGGATCACTTCTTCCCTTTTCGTTAACTGCAGCTACCCTGAAGACATACTCTTCTCCTGCAGTTAAGCCAGATATAGTTGCTTCTAGAGTCTTAACTTGTGTGCAGGTGCTCCACTTTTCACTCCCTTTAGTCTGCATTTCAACCACATAACCAGTAATTTTGCTGCCACCATCACTTTCTGGTTTCTCCCACTTAATTGTAGCTGTATTACGGGTCACATCAACAAGAGTTA... | AGCCTTTACATTGAAAGTATGGAAAGGAAGCTCAACTGAAGGCTTTATTTCAATATCCCTTGCAATTACTGGCACTCCAAGTTGTCTTGGATCACTTCTTCCCTTTTCGTTAACTGCAGCTACCCTGAAGACATACTCTTCTCCTGCAGTTAAGCCAGATATAGTTGCTTCTAGAGTCTTAACTTGTGTGCAGGTGCTCCACTTTTCACTCCCTTTAGTCTGCATTTCAACCACATAACCAGTAATTTTGCTGCCACCATCACTTTCTGGTTTCTCCCACTTAATTGTAGCTGTATTACGGGTCACATCAACAAGAGTTA... | pathogenic | 48,395 |
Determine whether the variant at chromosome 2, position 178564373, in gene TTN is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | ACCCTGAAGACATACTCTTCTCCTGCAGTTAAGCCAGATATAGTTGCTTCTAGAGTCTTAACTTGTGTGCAGGTGCTCCACTTTTCACTCCCTTTAGTCTGCATTTCAACCACATAACCAGTAATTTTGCTGCCACCATCACTTTCTGGTTTCTCCCACTTAATTGTAGCTGTATTACGGGTCACATCAACAAGAGTTACTCTTCCAGGTGGGAGGGGTGGTTCAGACACTTTAACGGGTTCTGTTGTTTCAGCTGGCAAACCAATCCCATATTCATTGGAAGCCAAGACTCGGAAGTAGTAAGAACATCCTTCTTGTAG... | ACCCTGAAGACATACTCTTCTCCTGCAGTTAAGCCAGATATAGTTGCTTCTAGAGTCTTAACTTGTGTGCAGGTGCTCCACTTTTCACTCCCTTTAGTCTGCATTTCAACCACATAACCAGTAATTTTGCTGCCACCATCACTTTCTGGTTTCTCCCACTTAATTGTAGCTGTATTACGGGTCACATCAACAAGAGTTACTCTTCCAGGTGGGAGGGGTGGTTCAGACACTTTAACGGGTTCTGTTGTTTCAGCTGGCAAACCAATCCCATATTCATTGGAAGCCAAGACTCGGAAGTAGTAAGAACATCCTTCTTGTAG... | pathogenic | 48,404 |
Chromosome 2, position 178564787, 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', 'Cardiomyopathy', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | ATCTTAGCTCCACCATCAATAAGTGGTGGTTCCCAGGACAACGTCACTGAGTCTTTCTTCACTTCTCTTATGGTCAAATTCACAGGGGCACTTGGTGAGTCAAGAACTCTGACGTTAACAAAAGCTGTTTTGGAGCCACTATTATTTTCTAATGTCAGATTATACCGACCACTGTCAAATCTGGTAACATTATCAATCACCAACATTGTAAATGAGCTGGTCACCTCTATCTGAGCCCTGTCAGTGAGAATGCCTTCTGCCTTTTCCCATTTAACTTCGGGTTCTGGTCGACCTTTGATAGTGACAAATAAGCGTAAAGT... | ATCTTAGCTCCACCATCAATAAGTGGTGGTTCCCAGGACAACGTCACTGAGTCTTTCTTCACTTCTCTTATGGTCAAATTCACAGGGGCACTTGGTGAGTCAAGAACTCTGACGTTAACAAAAGCTGTTTTGGAGCCACTATTATTTTCTAATGTCAGATTATACCGACCACTGTCAAATCTGGTAACATTATCAATCACCAACATTGTAAATGAGCTGGTCACCTCTATCTGAGCCCTGTCAGTGAGAATGCCTTCTGCCTTTTCCCATTTAACTTCGGGTTCTGGTCGACCTTTGATAGTGACAAATAAGCGTAAAGT... | pathogenic | 48,422 |
Variant in gene TTN, located at chromosome 2 position 178564862: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | AAATTCACAGGGGCACTTGGTGAGTCAAGAACTCTGACGTTAACAAAAGCTGTTTTGGAGCCACTATTATTTTCTAATGTCAGATTATACCGACCACTGTCAAATCTGGTAACATTATCAATCACCAACATTGTAAATGAGCTGGTCACCTCTATCTGAGCCCTGTCAGTGAGAATGCCTTCTGCCTTTTCCCATTTAACTTCGGGTTCTGGTCGACCTTTGATAGTGACAAATAAGCGTAAAGTAGCACTTGCACGCAGAACGACCACCTTTCTGAGATCAGCATCGAGTTCTATTTCTGGTGGCTCTATCCTCTCCTG... | AAATTCACAGGGGCACTTGGTGAGTCAAGAACTCTGACGTTAACAAAAGCTGTTTTGGAGCCACTATTATTTTCTAATGTCAGATTATACCGACCACTGTCAAATCTGGTAACATTATCAATCACCAACATTGTAAATGAGCTGGTCACCTCTATCTGAGCCCTGTCAGTGAGAATGCCTTCTGCCTTTTCCCATTTAACTTCGGGTTCTGGTCGACCTTTGATAGTGACAAATAAGCGTAAAGTAGCACTTGCACGCAGAACGACCACCTTTCTGAGATCAGCATCGAGTTCTATTTCTGGTGGCTCTATCCTCTCCTG... | pathogenic | 48,427 |
Does the variant on chromosome 2 at location 178564870 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'] | AGGGGCACTTGGTGAGTCAAGAACTCTGACGTTAACAAAAGCTGTTTTGGAGCCACTATTATTTTCTAATGTCAGATTATACCGACCACTGTCAAATCTGGTAACATTATCAATCACCAACATTGTAAATGAGCTGGTCACCTCTATCTGAGCCCTGTCAGTGAGAATGCCTTCTGCCTTTTCCCATTTAACTTCGGGTTCTGGTCGACCTTTGATAGTGACAAATAAGCGTAAAGTAGCACTTGCACGCAGAACGACCACCTTTCTGAGATCAGCATCGAGTTCTATTTCTGGTGGCTCTATCCTCTCCTGAGCAACCA... | AGGGGCACTTGGTGAGTCAAGAACTCTGACGTTAACAAAAGCTGTTTTGGAGCCACTATTATTTTCTAATGTCAGATTATACCGACCACTGTCAAATCTGGTAACATTATCAATCACCAACATTGTAAATGAGCTGGTCACCTCTATCTGAGCCCTGTCAGTGAGAATGCCTTCTGCCTTTTCCCATTTAACTTCGGGTTCTGGTCGACCTTTGATAGTGACAAATAAGCGTAAAGTAGCACTTGCACGCAGAACGACCACCTTTCTGAGATCAGCATCGAGTTCTATTTCTGGTGGCTCTATCCTCTCCTGAGCAACCA... | pathogenic | 48,428 |
Is the genetic mutation found on chromosome 2 at position 178564929, within the gene TTN, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TATTTTCTAATGTCAGATTATACCGACCACTGTCAAATCTGGTAACATTATCAATCACCAACATTGTAAATGAGCTGGTCACCTCTATCTGAGCCCTGTCAGTGAGAATGCCTTCTGCCTTTTCCCATTTAACTTCGGGTTCTGGTCGACCTTTGATAGTGACAAATAAGCGTAAAGTAGCACTTGCACGCAGAACGACCACCTTTCTGAGATCAGCATCGAGTTCTATTTCTGGTGGCTCTATCCTCTCCTGAGCAACCACTGAGCCAGGTAGAGTTGCAGGTTCACCTACACCTTCAGAATTGATGGCACAAATACGG... | TATTTTCTAATGTCAGATTATACCGACCACTGTCAAATCTGGTAACATTATCAATCACCAACATTGTAAATGAGCTGGTCACCTCTATCTGAGCCCTGTCAGTGAGAATGCCTTCTGCCTTTTCCCATTTAACTTCGGGTTCTGGTCGACCTTTGATAGTGACAAATAAGCGTAAAGTAGCACTTGCACGCAGAACGACCACCTTTCTGAGATCAGCATCGAGTTCTATTTCTGGTGGCTCTATCCTCTCCTGAGCAACCACTGAGCCAGGTAGAGTTGCAGGTTCACCTACACCTTCAGAATTGATGGCACAAATACGG... | pathogenic | 48,430 |
Does the chromosome 2 mutation at position 178565005 within gene TTN classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | GGTCACCTCTATCTGAGCCCTGTCAGTGAGAATGCCTTCTGCCTTTTCCCATTTAACTTCGGGTTCTGGTCGACCTTTGATAGTGACAAATAAGCGTAAAGTAGCACTTGCACGCAGAACGACCACCTTTCTGAGATCAGCATCGAGTTCTATTTCTGGTGGCTCTATCCTCTCCTGAGCAACCACTGAGCCAGGTAGAGTTGCAGGTTCACCTACACCTTCAGAATTGATGGCACAAATACGGAAGTTATATTCAGTGTTTTCTTTAAGCTTGGTCACTGTGAACTGCTTTCCTTGTAATCCTGTTGGTGGAGTGCAGG... | GGTCACCTCTATCTGAGCCCTGTCAGTGAGAATGCCTTCTGCCTTTTCCCATTTAACTTCGGGTTCTGGTCGACCTTTGATAGTGACAAATAAGCGTAAAGTAGCACTTGCACGCAGAACGACCACCTTTCTGAGATCAGCATCGAGTTCTATTTCTGGTGGCTCTATCCTCTCCTGAGCAACCACTGAGCCAGGTAGAGTTGCAGGTTCACCTACACCTTCAGAATTGATGGCACAAATACGGAAGTTATATTCAGTGTTTTCTTTAAGCTTGGTCACTGTGAACTGCTTTCCTTGTAATCCTGTTGGTGGAGTGCAGG... | pathogenic | 48,436 |
Clinically, how would you classify the variant at chromosome 2, position 178565119, 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_dilated_cardiomyopathy'] | CAGAACGACCACCTTTCTGAGATCAGCATCGAGTTCTATTTCTGGTGGCTCTATCCTCTCCTGAGCAACCACTGAGCCAGGTAGAGTTGCAGGTTCACCTACACCTTCAGAATTGATGGCACAAATACGGAAGTTATATTCAGTGTTTTCTTTAAGCTTGGTCACTGTGAACTGCTTTCCTTGTAATCCTGTTGGTGGAGTGCAGGTTGTCCATTCATCCGCAGCAGCTTCTTTGACCTCTACAACATAGCCTTTAACAGGTGCGCCACCATCATAAATTGGCTTACTCCATGCCAGGGAGACAGAAGATCTGGAAGTGT... | CAGAACGACCACCTTTCTGAGATCAGCATCGAGTTCTATTTCTGGTGGCTCTATCCTCTCCTGAGCAACCACTGAGCCAGGTAGAGTTGCAGGTTCACCTACACCTTCAGAATTGATGGCACAAATACGGAAGTTATATTCAGTGTTTTCTTTAAGCTTGGTCACTGTGAACTGCTTTCCTTGTAATCCTGTTGGTGGAGTGCAGGTTGTCCATTCATCCGCAGCAGCTTCTTTGACCTCTACAACATAGCCTTTAACAGGTGCGCCACCATCATAAATTGGCTTACTCCATGCCAGGGAGACAGAAGATCTGGAAGTGT... | pathogenic | 48,441 |
Is chromosome 2, position 178565235, 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'] | TGGCACAAATACGGAAGTTATATTCAGTGTTTTCTTTAAGCTTGGTCACTGTGAACTGCTTTCCTTGTAATCCTGTTGGTGGAGTGCAGGTTGTCCATTCATCCGCAGCAGCTTCTTTGACCTCTACAACATAGCCTTTAACAGGTGCGCCACCATCATAAATTGGCTTACTCCATGCCAGGGAGACAGAAGATCTGGAAGTGTCCGTCACTTTTGGATTGCTTGGGGGACCTGGTGGATACAAGGCATCACACGCACGGTAGAAAACAGATGGCTCACTAGGTTCTCCCACACCAGCTGCATTTTCAGCAGCAACTCTG... | TGGCACAAATACGGAAGTTATATTCAGTGTTTTCTTTAAGCTTGGTCACTGTGAACTGCTTTCCTTGTAATCCTGTTGGTGGAGTGCAGGTTGTCCATTCATCCGCAGCAGCTTCTTTGACCTCTACAACATAGCCTTTAACAGGTGCGCCACCATCATAAATTGGCTTACTCCATGCCAGGGAGACAGAAGATCTGGAAGTGTCCGTCACTTTTGGATTGCTTGGGGGACCTGGTGGATACAAGGCATCACACGCACGGTAGAAAACAGATGGCTCACTAGGTTCTCCCACACCAGCTGCATTTTCAGCAGCAACTCTG... | pathogenic | 48,450 |
The mutation impacting TTN on chromosome 2 at position 178565278: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | GGTCACTGTGAACTGCTTTCCTTGTAATCCTGTTGGTGGAGTGCAGGTTGTCCATTCATCCGCAGCAGCTTCTTTGACCTCTACAACATAGCCTTTAACAGGTGCGCCACCATCATAAATTGGCTTACTCCATGCCAGGGAGACAGAAGATCTGGAAGTGTCCGTCACTTTTGGATTGCTTGGGGGACCTGGTGGATACAAGGCATCACACGCACGGTAGAAAACAGATGGCTCACTAGGTTCTCCCACACCAGCTGCATTTTCAGCAGCAACTCTGAATTCATAGGAATGGCCTTCGGTAAGACCAGTTACCCTGAGCC... | GGTCACTGTGAACTGCTTTCCTTGTAATCCTGTTGGTGGAGTGCAGGTTGTCCATTCATCCGCAGCAGCTTCTTTGACCTCTACAACATAGCCTTTAACAGGTGCGCCACCATCATAAATTGGCTTACTCCATGCCAGGGAGACAGAAGATCTGGAAGTGTCCGTCACTTTTGGATTGCTTGGGGGACCTGGTGGATACAAGGCATCACACGCACGGTAGAAAACAGATGGCTCACTAGGTTCTCCCACACCAGCTGCATTTTCAGCAGCAACTCTGAATTCATAGGAATGGCCTTCGGTAAGACCAGTTACCCTGAGCC... | pathogenic | 48,454 |
Evaluate the clinical significance of the mutation at chromosome 2, position 178565366 in gene TTN: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TAGCCTTTAACAGGTGCGCCACCATCATAAATTGGCTTACTCCATGCCAGGGAGACAGAAGATCTGGAAGTGTCCGTCACTTTTGGATTGCTTGGGGGACCTGGTGGATACAAGGCATCACACGCACGGTAGAAAACAGATGGCTCACTAGGTTCTCCCACACCAGCTGCATTTTCAGCAGCAACTCTGAATTCATAGGAATGGCCTTCGGTAAGACCAGTTACCCTGAGCCGCAGATCCGTTAATGTTTTCTTGTTGCACTTGGTCCATCTAACGCCTTCCTTATCTCGTTTTTCAAGAATGTAGCCCTCAATTTCGGT... | TAGCCTTTAACAGGTGCGCCACCATCATAAATTGGCTTACTCCATGCCAGGGAGACAGAAGATCTGGAAGTGTCCGTCACTTTTGGATTGCTTGGGGGACCTGGTGGATACAAGGCATCACACGCACGGTAGAAAACAGATGGCTCACTAGGTTCTCCCACACCAGCTGCATTTTCAGCAGCAACTCTGAATTCATAGGAATGGCCTTCGGTAAGACCAGTTACCCTGAGCCGCAGATCCGTTAATGTTTTCTTGTTGCACTTGGTCCATCTAACGCCTTCCTTATCTCGTTTTTCAAGAATGTAGCCCTCAATTTCGGT... | pathogenic | 48,462 |
Determine if the mutation at chromosome 2, position 178565547 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'] | CAACTCTGAATTCATAGGAATGGCCTTCGGTAAGACCAGTTACCCTGAGCCGCAGATCCGTTAATGTTTTCTTGTTGCACTTGGTCCATCTAACGCCTTCCTTATCTCGTTTTTCAAGAATGTAGCCCTCAATTTCGGTACCTCCGTCGTCTACTGGGCGTGCCCATGTTACTACCATAGAATCTTTGGTGATTGCTGAGACTTCAGGTGTTGAGGGAGGACCTGGTGGCTTATAAGGATTACAGGCCGTAACAGGCCCAGATTCCAAGGGCTCTCCAATTCCATATTTATTCACAGCCATGACACGGAAAATGTACTCA... | CAACTCTGAATTCATAGGAATGGCCTTCGGTAAGACCAGTTACCCTGAGCCGCAGATCCGTTAATGTTTTCTTGTTGCACTTGGTCCATCTAACGCCTTCCTTATCTCGTTTTTCAAGAATGTAGCCCTCAATTTCGGTACCTCCGTCGTCTACTGGGCGTGCCCATGTTACTACCATAGAATCTTTGGTGATTGCTGAGACTTCAGGTGTTGAGGGAGGACCTGGTGGCTTATAAGGATTACAGGCCGTAACAGGCCCAGATTCCAAGGGCTCTCCAATTCCATATTTATTCACAGCCATGACACGGAAAATGTACTCA... | pathogenic | 48,471 |
Variant at chromosome 2, position 178565745, gene TTN: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | AGACTTCAGGTGTTGAGGGAGGACCTGGTGGCTTATAAGGATTACAGGCCGTAACAGGCCCAGATTCCAAGGGCTCTCCAATTCCATATTTATTCACAGCCATGACACGGAAAATGTACTCATTACCAGGAAGAAGTTTAGTAACTTTGTAGTTAAGGGCCTGTACCTCAGTTGAAACCTGGGTCCAAGAGAGTCGGCTTGTCTCCCTCTTTTCAATGATGTAATGTGAAATATTAGCACCACCATCTTGCAAAGGTGGGTTCCATGCCAGGTAACATTTTTCCGCAGTAACTCCAGTAACTTTCAGAGGCCCTTCAGGA... | AGACTTCAGGTGTTGAGGGAGGACCTGGTGGCTTATAAGGATTACAGGCCGTAACAGGCCCAGATTCCAAGGGCTCTCCAATTCCATATTTATTCACAGCCATGACACGGAAAATGTACTCATTACCAGGAAGAAGTTTAGTAACTTTGTAGTTAAGGGCCTGTACCTCAGTTGAAACCTGGGTCCAAGAGAGTCGGCTTGTCTCCCTCTTTTCAATGATGTAATGTGAAATATTAGCACCACCATCTTGCAAAGGTGGGTTCCATGCCAGGTAACATTTTTCCGCAGTAACTCCAGTAACTTTCAGAGGCCCTTCAGGA... | pathogenic | 48,479 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 178565929, gene TTN. What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CCAAGAGAGTCGGCTTGTCTCCCTCTTTTCAATGATGTAATGTGAAATATTAGCACCACCATCTTGCAAAGGTGGGTTCCATGCCAGGTAACATTTTTCCGCAGTAACTCCAGTAACTTTCAGAGGCCCTTCAGGAGGCCCTGGCCTGTCAAGTACCTTTACAGTGATGGGTATAGACTTTGTACCACCAACATTGCTGAGTTTCAGAATATATTGTCCTCCATCAGTCCGTATACAGTCTTTGACAACAAGAGTTGTTTTCTGAATAGTAGATTTAATTTCCATTCTAGCAGCTGTTTCTTCAAGTTCTTTTCCATCTT... | CCAAGAGAGTCGGCTTGTCTCCCTCTTTTCAATGATGTAATGTGAAATATTAGCACCACCATCTTGCAAAGGTGGGTTCCATGCCAGGTAACATTTTTCCGCAGTAACTCCAGTAACTTTCAGAGGCCCTTCAGGAGGCCCTGGCCTGTCAAGTACCTTTACAGTGATGGGTATAGACTTTGTACCACCAACATTGCTGAGTTTCAGAATATATTGTCCTCCATCAGTCCGTATACAGTCTTTGACAACAAGAGTTGTTTTCTGAATAGTAGATTTAATTTCCATTCTAGCAGCTGTTTCTTCAAGTTCTTTTCCATCTT... | pathogenic | 48,484 |
Mutation at chromosome 2, position 178566005, 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'] | TTCCATGCCAGGTAACATTTTTCCGCAGTAACTCCAGTAACTTTCAGAGGCCCTTCAGGAGGCCCTGGCCTGTCAAGTACCTTTACAGTGATGGGTATAGACTTTGTACCACCAACATTGCTGAGTTTCAGAATATATTGTCCTCCATCAGTCCGTATACAGTCTTTGACAACAAGAGTTGTTTTCTGAATAGTAGATTTAATTTCCATTCTAGCAGCTGTTTCTTCAAGTTCTTTTCCATCTTTTGACCAAACAACATCAGGTATAGGTTTGCCACGGATGTCGGCTTCAAGAACAAAAGTCTCTCCTGCATGAACAAC... | TTCCATGCCAGGTAACATTTTTCCGCAGTAACTCCAGTAACTTTCAGAGGCCCTTCAGGAGGCCCTGGCCTGTCAAGTACCTTTACAGTGATGGGTATAGACTTTGTACCACCAACATTGCTGAGTTTCAGAATATATTGTCCTCCATCAGTCCGTATACAGTCTTTGACAACAAGAGTTGTTTTCTGAATAGTAGATTTAATTTCCATTCTAGCAGCTGTTTCTTCAAGTTCTTTTCCATCTTTTGACCAAACAACATCAGGTATAGGTTTGCCACGGATGTCGGCTTCAAGAACAAAAGTCTCTCCTGCATGAACAAC... | pathogenic | 48,488 |
Gene mutation in TTN at chromosome 2, position 178566084—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CCTTTACAGTGATGGGTATAGACTTTGTACCACCAACATTGCTGAGTTTCAGAATATATTGTCCTCCATCAGTCCGTATACAGTCTTTGACAACAAGAGTTGTTTTCTGAATAGTAGATTTAATTTCCATTCTAGCAGCTGTTTCTTCAAGTTCTTTTCCATCTTTTGACCAAACAACATCAGGTATAGGTTTGCCACGGATGTCGGCTTCAAGAACAAAAGTCTCTCCTGCATGAACAACGATGACATCTTTATATTTTGGATCCAGAGAGGCATTTGGTGCATCAATTTCATCTCTTGCAGTAATGGCACCACTACTA... | CCTTTACAGTGATGGGTATAGACTTTGTACCACCAACATTGCTGAGTTTCAGAATATATTGTCCTCCATCAGTCCGTATACAGTCTTTGACAACAAGAGTTGTTTTCTGAATAGTAGATTTAATTTCCATTCTAGCAGCTGTTTCTTCAAGTTCTTTTCCATCTTTTGACCAAACAACATCAGGTATAGGTTTGCCACGGATGTCGGCTTCAAGAACAAAAGTCTCTCCTGCATGAACAACGATGACATCTTTATATTTTGGATCCAGAGAGGCATTTGGTGCATCAATTTCATCTCTTGCAGTAATGGCACCACTACTA... | pathogenic | 48,494 |
Does the variant impacting TTN on chromosome 2, position 178566283, 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', 'Primary_dilated_cardiomyopathy'] | GATGTCGGCTTCAAGAACAAAAGTCTCTCCTGCATGAACAACGATGACATCTTTATATTTTGGATCCAGAGAGGCATTTGGTGCATCAATTTCATCTCTTGCAGTAATGGCACCACTACTATCAGATGGTTCACTAAAGTTTCCAGCTGCATTTCTTGCAATTACTCTAAATTCATATCTTTGGTCTTCTACAAGTCCACTCACTGTAAATTCAGTTTCTAATACGTTGGTAAAGCTGGCTTTCATCCAGCGGCCATCAGGTAGATCTTTCTTTTCTACAATATAACCTGTTATTTTGCTACCACCATCATAGGCAGGTT... | GATGTCGGCTTCAAGAACAAAAGTCTCTCCTGCATGAACAACGATGACATCTTTATATTTTGGATCCAGAGAGGCATTTGGTGCATCAATTTCATCTCTTGCAGTAATGGCACCACTACTATCAGATGGTTCACTAAAGTTTCCAGCTGCATTTCTTGCAATTACTCTAAATTCATATCTTTGGTCTTCTACAAGTCCACTCACTGTAAATTCAGTTTCTAATACGTTGGTAAAGCTGGCTTTCATCCAGCGGCCATCAGGTAGATCTTTCTTTTCTACAATATAACCTGTTATTTTGCTACCACCATCATAGGCAGGTT... | pathogenic | 48,502 |
Regarding the variant found on chromosome 2 at position 178566309 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'] | CTCCTGCATGAACAACGATGACATCTTTATATTTTGGATCCAGAGAGGCATTTGGTGCATCAATTTCATCTCTTGCAGTAATGGCACCACTACTATCAGATGGTTCACTAAAGTTTCCAGCTGCATTTCTTGCAATTACTCTAAATTCATATCTTTGGTCTTCTACAAGTCCACTCACTGTAAATTCAGTTTCTAATACGTTGGTAAAGCTGGCTTTCATCCAGCGGCCATCAGGTAGATCTTTCTTTTCTACAATATAACCTGTTATTTTGCTACCACCATCATAGGCAGGTTTCTTCCATTTCAGTGTGACATTGTTT... | CTCCTGCATGAACAACGATGACATCTTTATATTTTGGATCCAGAGAGGCATTTGGTGCATCAATTTCATCTCTTGCAGTAATGGCACCACTACTATCAGATGGTTCACTAAAGTTTCCAGCTGCATTTCTTGCAATTACTCTAAATTCATATCTTTGGTCTTCTACAAGTCCACTCACTGTAAATTCAGTTTCTAATACGTTGGTAAAGCTGGCTTTCATCCAGCGGCCATCAGGTAGATCTTTCTTTTCTACAATATAACCTGTTATTTTGCTACCACCATCATAGGCAGGTTTCTTCCATTTCAGTGTGACATTGTTT... | pathogenic | 48,503 |
Is the genetic change at chromosome 2, position 178566322, within gene TTN benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | AACGATGACATCTTTATATTTTGGATCCAGAGAGGCATTTGGTGCATCAATTTCATCTCTTGCAGTAATGGCACCACTACTATCAGATGGTTCACTAAAGTTTCCAGCTGCATTTCTTGCAATTACTCTAAATTCATATCTTTGGTCTTCTACAAGTCCACTCACTGTAAATTCAGTTTCTAATACGTTGGTAAAGCTGGCTTTCATCCAGCGGCCATCAGGTAGATCTTTCTTTTCTACAATATAACCTGTTATTTTGCTACCACCATCATAGGCAGGTTTCTTCCATTTCAGTGTGACATTGTTTCTTGTAATAACAA... | AACGATGACATCTTTATATTTTGGATCCAGAGAGGCATTTGGTGCATCAATTTCATCTCTTGCAGTAATGGCACCACTACTATCAGATGGTTCACTAAAGTTTCCAGCTGCATTTCTTGCAATTACTCTAAATTCATATCTTTGGTCTTCTACAAGTCCACTCACTGTAAATTCAGTTTCTAATACGTTGGTAAAGCTGGCTTTCATCCAGCGGCCATCAGGTAGATCTTTCTTTTCTACAATATAACCTGTTATTTTGCTACCACCATCATAGGCAGGTTTCTTCCATTTCAGTGTGACATTGTTTCTTGTAATAACAA... | pathogenic | 48,505 |
Is the variant located on chromosome 2 at position 178566853, gene TTN, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | AAGATGGTAGCCAATAATTTTGGTGCCTCCATCATTCACTGGCTCATGCCATTGCACAAGCATCTGATCTTTTGAGATTGATGTCACAAAAGGAGTTCCAGGTGGTCCAGGTTCTTTAAATGGATATTGTACAATAACTGCCTTAGAATCCAGTGGGGCACTTTTTCCATACCTGTTTTCAGCAAAAATTCTAAACTGGTACTCCGTGCCTGTTTTCAGTTTGGTTATTTTAATTGTTGTTCTTGCAACTGTTGCTGATACCATGTGCCAAGTGGTGGTGGTTGTATCTCGCTTCTCTACAATGTAGTTGCTTATTTGGC... | AAGATGGTAGCCAATAATTTTGGTGCCTCCATCATTCACTGGCTCATGCCATTGCACAAGCATCTGATCTTTTGAGATTGATGTCACAAAAGGAGTTCCAGGTGGTCCAGGTTCTTTAAATGGATATTGTACAATAACTGCCTTAGAATCCAGTGGGGCACTTTTTCCATACCTGTTTTCAGCAAAAATTCTAAACTGGTACTCCGTGCCTGTTTTCAGTTTGGTTATTTTAATTGTTGTTCTTGCAACTGTTGCTGATACCATGTGCCAAGTGGTGGTGGTTGTATCTCGCTTCTCTACAATGTAGTTGCTTATTTGGC... | pathogenic | 48,532 |
Evaluate the clinical significance of the mutation at chromosome 2, position 178566986 in gene TTN: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | ATAACTGCCTTAGAATCCAGTGGGGCACTTTTTCCATACCTGTTTTCAGCAAAAATTCTAAACTGGTACTCCGTGCCTGTTTTCAGTTTGGTTATTTTAATTGTTGTTCTTGCAACTGTTGCTGATACCATGTGCCAAGTGGTGGTGGTTGTATCTCGCTTCTCTACAATGTAGTTGCTTATTTGGCAGCCACCAGTATAGGCTGGAGGTTCCCAAGATATGACTACAAAGTCTGCACTAACTTCATCAAACCGAACTGGGCCAACTGGAGGTCCAGGCTTTTCTAAAACGATAACACTGAGATTTTCTGTTGCTGTGCC... | ATAACTGCCTTAGAATCCAGTGGGGCACTTTTTCCATACCTGTTTTCAGCAAAAATTCTAAACTGGTACTCCGTGCCTGTTTTCAGTTTGGTTATTTTAATTGTTGTTCTTGCAACTGTTGCTGATACCATGTGCCAAGTGGTGGTGGTTGTATCTCGCTTCTCTACAATGTAGTTGCTTATTTGGCAGCCACCAGTATAGGCTGGAGGTTCCCAAGATATGACTACAAAGTCTGCACTAACTTCATCAAACCGAACTGGGCCAACTGGAGGTCCAGGCTTTTCTAAAACGATAACACTGAGATTTTCTGTTGCTGTGCC... | pathogenic | 48,538 |
Is the genetic variant on chromosome 2, position 178567273, gene TTN, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | AACGATAACACTGAGATTTTCTGTTGCTGTGCCTGCACTATTTGTTGCCGTTACGGTGTATTTTCCAAAGTCATCTTTGTTACCTTCTTTAATGTGCAAAACAGTTGAGGTAGCTGTTTCTTCAACGTTTACTCTTGTTGTCTGTTTAAGAGGCTCACCATCTTTGACCCAAGAAATGTTAGGTCTTGGTCGGCCTATAACTGGAATTTCTATTTTAAGATCTTCTCCAGCTTGGATACTATATGTGTTAAATGGTAACTTTAAACTAGGCTGTATAGTCAAGTCCTTGGCTATGACAGGAACACCCAACACTCTTGGAT... | AACGATAACACTGAGATTTTCTGTTGCTGTGCCTGCACTATTTGTTGCCGTTACGGTGTATTTTCCAAAGTCATCTTTGTTACCTTCTTTAATGTGCAAAACAGTTGAGGTAGCTGTTTCTTCAACGTTTACTCTTGTTGTCTGTTTAAGAGGCTCACCATCTTTGACCCAAGAAATGTTAGGTCTTGGTCGGCCTATAACTGGAATTTCTATTTTAAGATCTTCTCCAGCTTGGATACTATATGTGTTAAATGGTAACTTTAAACTAGGCTGTATAGTCAAGTCCTTGGCTATGACAGGAACACCCAACACTCTTGGAT... | pathogenic | 48,558 |
Regarding the variant at chromosome 2 and position 178567382, 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'] | GTAGCTGTTTCTTCAACGTTTACTCTTGTTGTCTGTTTAAGAGGCTCACCATCTTTGACCCAAGAAATGTTAGGTCTTGGTCGGCCTATAACTGGAATTTCTATTTTAAGATCTTCTCCAGCTTGGATACTATATGTGTTAAATGGTAACTTTAAACTAGGCTGTATAGTCAAGTCCTTGGCTATGACAGGAACACCCAACACTCTTGGATCGCTTTTTCCTTTCTCATTATAAGCCTTGACACGGAACTGATATTCTTGTCCAGAACTCAAACCAGTAACAACTGCATTACAGACTTTGGATTCAGCCACAATGCTCCA... | GTAGCTGTTTCTTCAACGTTTACTCTTGTTGTCTGTTTAAGAGGCTCACCATCTTTGACCCAAGAAATGTTAGGTCTTGGTCGGCCTATAACTGGAATTTCTATTTTAAGATCTTCTCCAGCTTGGATACTATATGTGTTAAATGGTAACTTTAAACTAGGCTGTATAGTCAAGTCCTTGGCTATGACAGGAACACCCAACACTCTTGGATCGCTTTTTCCTTTCTCATTATAAGCCTTGACACGGAACTGATATTCTTGTCCAGAACTCAAACCAGTAACAACTGCATTACAGACTTTGGATTCAGCCACAATGCTCCA... | pathogenic | 48,564 |
Regarding the variant at chromosome 2 and position 178567400, affecting gene TTN: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'TTN-related_disorder'] | TTTACTCTTGTTGTCTGTTTAAGAGGCTCACCATCTTTGACCCAAGAAATGTTAGGTCTTGGTCGGCCTATAACTGGAATTTCTATTTTAAGATCTTCTCCAGCTTGGATACTATATGTGTTAAATGGTAACTTTAAACTAGGCTGTATAGTCAAGTCCTTGGCTATGACAGGAACACCCAACACTCTTGGATCGCTTTTTCCTTTCTCATTATAAGCCTTGACACGGAACTGATATTCTTGTCCAGAACTCAAACCAGTAACAACTGCATTACAGACTTTGGATTCAGCCACAATGCTCCATTTTTCAGTTCCTTTGGG... | TTTACTCTTGTTGTCTGTTTAAGAGGCTCACCATCTTTGACCCAAGAAATGTTAGGTCTTGGTCGGCCTATAACTGGAATTTCTATTTTAAGATCTTCTCCAGCTTGGATACTATATGTGTTAAATGGTAACTTTAAACTAGGCTGTATAGTCAAGTCCTTGGCTATGACAGGAACACCCAACACTCTTGGATCGCTTTTTCCTTTCTCATTATAAGCCTTGACACGGAACTGATATTCTTGTCCAGAACTCAAACCAGTAACAACTGCATTACAGACTTTGGATTCAGCCACAATGCTCCATTTTTCAGTTCCTTTGGG... | pathogenic | 48,566 |
Assess the variant on chromosome 2, position 178567507, impacting TTN: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype'] | GATACTATATGTGTTAAATGGTAACTTTAAACTAGGCTGTATAGTCAAGTCCTTGGCTATGACAGGAACACCCAACACTCTTGGATCGCTTTTTCCTTTCTCATTATAAGCCTTGACACGGAACTGATATTCTTGTCCAGAACTCAAACCAGTAACAACTGCATTACAGACTTTGGATTCAGCCACAATGCTCCATTTTTCAGTTCCTTTGGGCTGCATTTCAACAACGTACCCCAGGACTCTGCTACCGCCATCATGTTCAGGTTTCTCCCACATAAGTGATGCACTGGTCTGGGACACATCAGTGAGTGTAACCTTTC... | GATACTATATGTGTTAAATGGTAACTTTAAACTAGGCTGTATAGTCAAGTCCTTGGCTATGACAGGAACACCCAACACTCTTGGATCGCTTTTTCCTTTCTCATTATAAGCCTTGACACGGAACTGATATTCTTGTCCAGAACTCAAACCAGTAACAACTGCATTACAGACTTTGGATTCAGCCACAATGCTCCATTTTTCAGTTCCTTTGGGCTGCATTTCAACAACGTACCCCAGGACTCTGCTACCGCCATCATGTTCAGGTTTCTCCCACATAAGTGATGCACTGGTCTGGGACACATCAGTGAGTGTAACCTTTC... | pathogenic | 48,571 |
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