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 |
|---|---|---|---|---|---|
Gene mutation in TTN at chromosome 2, position 178567559—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TTGGCTATGACAGGAACACCCAACACTCTTGGATCGCTTTTTCCTTTCTCATTATAAGCCTTGACACGGAACTGATATTCTTGTCCAGAACTCAAACCAGTAACAACTGCATTACAGACTTTGGATTCAGCCACAATGCTCCATTTTTCAGTTCCTTTGGGCTGCATTTCAACAACGTACCCCAGGACTCTGCTACCGCCATCATGTTCAGGTTTCTCCCACATAAGTGATGCACTGGTCTGGGACACATCAGTGAGTGTAACCTTTCCTGGTGGGGAAGGAGGTTCAGCAGCTTTCACGGCATCAACAGTTTCCACTGG... | TTGGCTATGACAGGAACACCCAACACTCTTGGATCGCTTTTTCCTTTCTCATTATAAGCCTTGACACGGAACTGATATTCTTGTCCAGAACTCAAACCAGTAACAACTGCATTACAGACTTTGGATTCAGCCACAATGCTCCATTTTTCAGTTCCTTTGGGCTGCATTTCAACAACGTACCCCAGGACTCTGCTACCGCCATCATGTTCAGGTTTCTCCCACATAAGTGATGCACTGGTCTGGGACACATCAGTGAGTGTAACCTTTCCTGGTGGGGAAGGAGGTTCAGCAGCTTTCACGGCATCAACAGTTTCCACTGG... | pathogenic | 48,572 |
Is chromosome 2, position 178567782, gene TTN variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TAAGTGATGCACTGGTCTGGGACACATCAGTGAGTGTAACCTTTCCTGGTGGGGAAGGAGGTTCAGCAGCTTTCACGGCATCAACAGTTTCCACTGGAACACCAACTCCAAATTCATTTTCAGCCATGACTCTGAAGTAATAAATGGCTCCTTCTGTAAGGTTTTCCACTTTAAAACTTGTTTTGCTGCATTTACTACTCACATTAGCATACGCTTTTCTGGTTGACTCACGTTTGTCAATCACATAGTTCTTGACCTTTGCCCCTCCATCAATGATGGGTGGCTCCCATACCAGGAAGGCAGAATCTTTTCTCACTTCT... | TAAGTGATGCACTGGTCTGGGACACATCAGTGAGTGTAACCTTTCCTGGTGGGGAAGGAGGTTCAGCAGCTTTCACGGCATCAACAGTTTCCACTGGAACACCAACTCCAAATTCATTTTCAGCCATGACTCTGAAGTAATAAATGGCTCCTTCTGTAAGGTTTTCCACTTTAAAACTTGTTTTGCTGCATTTACTACTCACATTAGCATACGCTTTTCTGGTTGACTCACGTTTGTCAATCACATAGTTCTTGACCTTTGCCCCTCCATCAATGATGGGTGGCTCCCATACCAGGAAGGCAGAATCTTTTCTCACTTCT... | pathogenic | 48,580 |
Determine if the mutation at chromosome 2, position 178567783 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', 'Primary_familial_dilated_cardiomyopathy'] | AAGTGATGCACTGGTCTGGGACACATCAGTGAGTGTAACCTTTCCTGGTGGGGAAGGAGGTTCAGCAGCTTTCACGGCATCAACAGTTTCCACTGGAACACCAACTCCAAATTCATTTTCAGCCATGACTCTGAAGTAATAAATGGCTCCTTCTGTAAGGTTTTCCACTTTAAAACTTGTTTTGCTGCATTTACTACTCACATTAGCATACGCTTTTCTGGTTGACTCACGTTTGTCAATCACATAGTTCTTGACCTTTGCCCCTCCATCAATGATGGGTGGCTCCCATACCAGGAAGGCAGAATCTTTTCTCACTTCTT... | AAGTGATGCACTGGTCTGGGACACATCAGTGAGTGTAACCTTTCCTGGTGGGGAAGGAGGTTCAGCAGCTTTCACGGCATCAACAGTTTCCACTGGAACACCAACTCCAAATTCATTTTCAGCCATGACTCTGAAGTAATAAATGGCTCCTTCTGTAAGGTTTTCCACTTTAAAACTTGTTTTGCTGCATTTACTACTCACATTAGCATACGCTTTTCTGGTTGACTCACGTTTGTCAATCACATAGTTCTTGACCTTTGCCCCTCCATCAATGATGGGTGGCTCCCATACCAGGAAGGCAGAATCTTTTCTCACTTCTT... | pathogenic | 48,581 |
Variant at chromosome 2, position 178567934, 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'] | TCTGTAAGGTTTTCCACTTTAAAACTTGTTTTGCTGCATTTACTACTCACATTAGCATACGCTTTTCTGGTTGACTCACGTTTGTCAATCACATAGTTCTTGACCTTTGCCCCTCCATCAATGATGGGTGGCTCCCATACCAGGAAGGCAGAATCTTTTCTCACTTCTTTGACTGCCAAATTCTGTGGTGGTCCTGGAGTGTCAAGAACTTTCACAGTTACAAAAGCAGACTTTGATCCACTGCTGTTTTCCAACTTAAGAATGTATTTTCCAGCATCATTTCTATCACAGTTATCTATTGATAGTTGGGTATAGTTTAC... | TCTGTAAGGTTTTCCACTTTAAAACTTGTTTTGCTGCATTTACTACTCACATTAGCATACGCTTTTCTGGTTGACTCACGTTTGTCAATCACATAGTTCTTGACCTTTGCCCCTCCATCAATGATGGGTGGCTCCCATACCAGGAAGGCAGAATCTTTTCTCACTTCTTTGACTGCCAAATTCTGTGGTGGTCCTGGAGTGTCAAGAACTTTCACAGTTACAAAAGCAGACTTTGATCCACTGCTGTTTTCCAACTTAAGAATGTATTTTCCAGCATCATTTCTATCACAGTTATCTATTGATAGTTGGGTATAGTTTAC... | pathogenic | 48,590 |
Chromosome 2, position 178568033, 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', 'Primary_dilated_cardiomyopathy'] | TTGACCTTTGCCCCTCCATCAATGATGGGTGGCTCCCATACCAGGAAGGCAGAATCTTTTCTCACTTCTTTGACTGCCAAATTCTGTGGTGGTCCTGGAGTGTCAAGAACTTTCACAGTTACAAAAGCAGACTTTGATCCACTGCTGTTTTCCAACTTAAGAATGTATTTTCCAGCATCATTTCTATCACAGTTATCTATTGATAGTTGGGTATAGTTTACTCCCTTTTCAATTTGGACCTTATCTGTGAATTCACCTTCCTCTCGAGACCAAGTGATCTCAGGCGTTGGACGACCTTTGAATGGAATGTGAATTCTGGC... | TTGACCTTTGCCCCTCCATCAATGATGGGTGGCTCCCATACCAGGAAGGCAGAATCTTTTCTCACTTCTTTGACTGCCAAATTCTGTGGTGGTCCTGGAGTGTCAAGAACTTTCACAGTTACAAAAGCAGACTTTGATCCACTGCTGTTTTCCAACTTAAGAATGTATTTTCCAGCATCATTTCTATCACAGTTATCTATTGATAGTTGGGTATAGTTTACTCCCTTTTCAATTTGGACCTTATCTGTGAATTCACCTTCCTCTCGAGACCAAGTGATCTCAGGCGTTGGACGACCTTTGAATGGAATGTGAATTCTGGC... | pathogenic | 48,596 |
Evaluate if the mutation on chromosome 2 at position 178568180 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'] | TTTTCCAACTTAAGAATGTATTTTCCAGCATCATTTCTATCACAGTTATCTATTGATAGTTGGGTATAGTTTACTCCCTTTTCAATTTGGACCTTATCTGTGAATTCACCTTCCTCTCGAGACCAAGTGATCTCAGGCGTTGGACGACCTTTGAATGGAATGTGAATTCTGGCAGATCCACCAGCTCTTACAACAATTCCTTTTCTTAATTCGGAGTCAAGGTCAAGTTCAGGTGCTTCAAGTTTATCTTCTGGTTTCACAGTACCAGGAACTGATGTAGCCTCACCTAAACCAACTTTGTTGAGGGCACAGACTCGTAT... | TTTTCCAACTTAAGAATGTATTTTCCAGCATCATTTCTATCACAGTTATCTATTGATAGTTGGGTATAGTTTACTCCCTTTTCAATTTGGACCTTATCTGTGAATTCACCTTCCTCTCGAGACCAAGTGATCTCAGGCGTTGGACGACCTTTGAATGGAATGTGAATTCTGGCAGATCCACCAGCTCTTACAACAATTCCTTTTCTTAATTCGGAGTCAAGGTCAAGTTCAGGTGCTTCAAGTTTATCTTCTGGTTTCACAGTACCAGGAACTGATGTAGCCTCACCTAAACCAACTTTGTTGAGGGCACAGACTCGTAT... | pathogenic | 48,602 |
Does the variant on chromosome 2 at location 178568247 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'] | AGTTTACTCCCTTTTCAATTTGGACCTTATCTGTGAATTCACCTTCCTCTCGAGACCAAGTGATCTCAGGCGTTGGACGACCTTTGAATGGAATGTGAATTCTGGCAGATCCACCAGCTCTTACAACAATTCCTTTTCTTAATTCGGAGTCAAGGTCAAGTTCAGGTGCTTCAAGTTTATCTTCTGGTTTCACAGTACCAGGAACTGATGTAGCCTCACCTAAACCAACTTTGTTGAGGGCACAGACTCGTATTTTATACTCTTGGTGTTCAGTGAGTTTTGAAATTTCAAATCGAGTGACTCTCAGGCCAGTCTGTGGA... | AGTTTACTCCCTTTTCAATTTGGACCTTATCTGTGAATTCACCTTCCTCTCGAGACCAAGTGATCTCAGGCGTTGGACGACCTTTGAATGGAATGTGAATTCTGGCAGATCCACCAGCTCTTACAACAATTCCTTTTCTTAATTCGGAGTCAAGGTCAAGTTCAGGTGCTTCAAGTTTATCTTCTGGTTTCACAGTACCAGGAACTGATGTAGCCTCACCTAAACCAACTTTGTTGAGGGCACAGACTCGTATTTTATACTCTTGGTGTTCAGTGAGTTTTGAAATTTCAAATCGAGTGACTCTCAGGCCAGTCTGTGGA... | pathogenic | 48,604 |
Mutation found at chromosome 2 position 178568317, gene TTN: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CGTTGGACGACCTTTGAATGGAATGTGAATTCTGGCAGATCCACCAGCTCTTACAACAATTCCTTTTCTTAATTCGGAGTCAAGGTCAAGTTCAGGTGCTTCAAGTTTATCTTCTGGTTTCACAGTACCAGGAACTGATGTAGCCTCACCTAAACCAACTTTGTTGAGGGCACAGACTCGTATTTTATACTCTTGGTGTTCAGTGAGTTTTGAAATTTCAAATCGAGTGACTCTCAGGCCAGTCTGTGGAGTAACTATTTGCCATTCTTCTTCATCTGCTTTACAGATTTCTACTACATATCCCAAGATCTCACTGCCGC... | CGTTGGACGACCTTTGAATGGAATGTGAATTCTGGCAGATCCACCAGCTCTTACAACAATTCCTTTTCTTAATTCGGAGTCAAGGTCAAGTTCAGGTGCTTCAAGTTTATCTTCTGGTTTCACAGTACCAGGAACTGATGTAGCCTCACCTAAACCAACTTTGTTGAGGGCACAGACTCGTATTTTATACTCTTGGTGTTCAGTGAGTTTTGAAATTTCAAATCGAGTGACTCTCAGGCCAGTCTGTGGAGTAACTATTTGCCATTCTTCTTCATCTGCTTTACAGATTTCTACTACATATCCCAAGATCTCACTGCCGC... | pathogenic | 48,606 |
Benign or pathogenic: chromosome 2, position 178568470, gene TTN variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype'] | ACCAACTTTGTTGAGGGCACAGACTCGTATTTTATACTCTTGGTGTTCAGTGAGTTTTGAAATTTCAAATCGAGTGACTCTCAGGCCAGTCTGTGGAGTAACTATTTGCCATTCTTCTTCATCTGCTTTACAGATTTCTACTACATATCCCAAGATCTCACTGCCGCCATCATAGATGGGTTTACCCCAGGCAAGTGTGATTGAATTTTTAGTGGTGTCTACAATGTGTGCATTGGTAGGTGGGCCAGGTTTGAACACAGGATCACAGGCTTTATAATAAACTGTAGCTGGACTTGGTTCCCCAACTCCAGCAGCATTTT... | ACCAACTTTGTTGAGGGCACAGACTCGTATTTTATACTCTTGGTGTTCAGTGAGTTTTGAAATTTCAAATCGAGTGACTCTCAGGCCAGTCTGTGGAGTAACTATTTGCCATTCTTCTTCATCTGCTTTACAGATTTCTACTACATATCCCAAGATCTCACTGCCGCCATCATAGATGGGTTTACCCCAGGCAAGTGTGATTGAATTTTTAGTGGTGTCTACAATGTGTGCATTGGTAGGTGGGCCAGGTTTGAACACAGGATCACAGGCTTTATAATAAACTGTAGCTGGACTTGGTTCCCCAACTCCAGCAGCATTTT... | pathogenic | 48,611 |
Variant on chromosome 2, at position 178568521, affecting TTN: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | GAGTTTTGAAATTTCAAATCGAGTGACTCTCAGGCCAGTCTGTGGAGTAACTATTTGCCATTCTTCTTCATCTGCTTTACAGATTTCTACTACATATCCCAAGATCTCACTGCCGCCATCATAGATGGGTTTACCCCAGGCAAGTGTGATTGAATTTTTAGTGGTGTCTACAATGTGTGCATTGGTAGGTGGGCCAGGTTTGAACACAGGATCACAGGCTTTATAATAAACTGTAGCTGGACTTGGTTCCCCAACTCCAGCAGCATTTTCTGCAGAGACCCTGAATTCATACTCATGATCTTCTGTTAATCCTGTCACTC... | GAGTTTTGAAATTTCAAATCGAGTGACTCTCAGGCCAGTCTGTGGAGTAACTATTTGCCATTCTTCTTCATCTGCTTTACAGATTTCTACTACATATCCCAAGATCTCACTGCCGCCATCATAGATGGGTTTACCCCAGGCAAGTGTGATTGAATTTTTAGTGGTGTCTACAATGTGTGCATTGGTAGGTGGGCCAGGTTTGAACACAGGATCACAGGCTTTATAATAAACTGTAGCTGGACTTGGTTCCCCAACTCCAGCAGCATTTTCTGCAGAGACCCTGAATTCATACTCATGATCTTCTGTTAATCCTGTCACTC... | pathogenic | 48,614 |
The chromosome 2, position 178568954 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'] | CGGTTCCAACAGACGGTCATGGAGTCTTTGGCAATATTTGTGACTTCCAAGCTTTTTGGTGGTCCAGGAAGCACAAATGGATTTTTCATTAGTACTGGTGCAGATTCCAAAGGCTCTCCAACACCATATTTGTTGACAGCCATTATACGGAAAACATATTCATTACCTTCTAAGAGTTTGGTAACTTTCAGAGAATTGGTCACAACTTCTGAAGCAACAACAGTCCAGGCAAGTCGACTGGTTTCTCGCTTTTCAACAACATAGTGAGAAATGTCACTGCCACCATCTTGAAGTGGTGGAGACCATGTTAAAGAGCATTT... | CGGTTCCAACAGACGGTCATGGAGTCTTTGGCAATATTTGTGACTTCCAAGCTTTTTGGTGGTCCAGGAAGCACAAATGGATTTTTCATTAGTACTGGTGCAGATTCCAAAGGCTCTCCAACACCATATTTGTTGACAGCCATTATACGGAAAACATATTCATTACCTTCTAAGAGTTTGGTAACTTTCAGAGAATTGGTCACAACTTCTGAAGCAACAACAGTCCAGGCAAGTCGACTGGTTTCTCGCTTTTCAACAACATAGTGAGAAATGTCACTGCCACCATCTTGAAGTGGTGGAGACCATGTTAAAGAGCATTT... | pathogenic | 48,631 |
Located at chromosome 2 position 178568981, the variant affecting gene TTN—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TTGGCAATATTTGTGACTTCCAAGCTTTTTGGTGGTCCAGGAAGCACAAATGGATTTTTCATTAGTACTGGTGCAGATTCCAAAGGCTCTCCAACACCATATTTGTTGACAGCCATTATACGGAAAACATATTCATTACCTTCTAAGAGTTTGGTAACTTTCAGAGAATTGGTCACAACTTCTGAAGCAACAACAGTCCAGGCAAGTCGACTGGTTTCTCGCTTTTCAACAACATAGTGAGAAATGTCACTGCCACCATCTTGAAGTGGTGGAGACCATGTTAAAGAGCATTTTTCAGAAGTGACTCCAGTAACCTGGAC... | TTGGCAATATTTGTGACTTCCAAGCTTTTTGGTGGTCCAGGAAGCACAAATGGATTTTTCATTAGTACTGGTGCAGATTCCAAAGGCTCTCCAACACCATATTTGTTGACAGCCATTATACGGAAAACATATTCATTACCTTCTAAGAGTTTGGTAACTTTCAGAGAATTGGTCACAACTTCTGAAGCAACAACAGTCCAGGCAAGTCGACTGGTTTCTCGCTTTTCAACAACATAGTGAGAAATGTCACTGCCACCATCTTGAAGTGGTGGAGACCATGTTAAAGAGCATTTTTCAGAAGTGACTCCAGTAACCTGGAC... | pathogenic | 48,632 |
Variant in TTN, chromosome 2, position 178568986—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Tibial_muscular_dystrophy'] | AATATTTGTGACTTCCAAGCTTTTTGGTGGTCCAGGAAGCACAAATGGATTTTTCATTAGTACTGGTGCAGATTCCAAAGGCTCTCCAACACCATATTTGTTGACAGCCATTATACGGAAAACATATTCATTACCTTCTAAGAGTTTGGTAACTTTCAGAGAATTGGTCACAACTTCTGAAGCAACAACAGTCCAGGCAAGTCGACTGGTTTCTCGCTTTTCAACAACATAGTGAGAAATGTCACTGCCACCATCTTGAAGTGGTGGAGACCATGTTAAAGAGCATTTTTCAGAAGTGACTCCAGTAACCTGGACTGGCC... | AATATTTGTGACTTCCAAGCTTTTTGGTGGTCCAGGAAGCACAAATGGATTTTTCATTAGTACTGGTGCAGATTCCAAAGGCTCTCCAACACCATATTTGTTGACAGCCATTATACGGAAAACATATTCATTACCTTCTAAGAGTTTGGTAACTTTCAGAGAATTGGTCACAACTTCTGAAGCAACAACAGTCCAGGCAAGTCGACTGGTTTCTCGCTTTTCAACAACATAGTGAGAAATGTCACTGCCACCATCTTGAAGTGGTGGAGACCATGTTAAAGAGCATTTTTCAGAAGTGACTCCAGTAACCTGGACTGGCC... | pathogenic | 48,633 |
Gene mutation in TTN at chromosome 2, position 178569010—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TGGTGGTCCAGGAAGCACAAATGGATTTTTCATTAGTACTGGTGCAGATTCCAAAGGCTCTCCAACACCATATTTGTTGACAGCCATTATACGGAAAACATATTCATTACCTTCTAAGAGTTTGGTAACTTTCAGAGAATTGGTCACAACTTCTGAAGCAACAACAGTCCAGGCAAGTCGACTGGTTTCTCGCTTTTCAACAACATAGTGAGAAATGTCACTGCCACCATCTTGAAGTGGTGGAGACCATGTTAAAGAGCATTTTTCAGAAGTGACTCCAGTAACCTGGACTGGCCCTTCTGGAGGTCCTGGTCTATCTA... | TGGTGGTCCAGGAAGCACAAATGGATTTTTCATTAGTACTGGTGCAGATTCCAAAGGCTCTCCAACACCATATTTGTTGACAGCCATTATACGGAAAACATATTCATTACCTTCTAAGAGTTTGGTAACTTTCAGAGAATTGGTCACAACTTCTGAAGCAACAACAGTCCAGGCAAGTCGACTGGTTTCTCGCTTTTCAACAACATAGTGAGAAATGTCACTGCCACCATCTTGAAGTGGTGGAGACCATGTTAAAGAGCATTTTTCAGAAGTGACTCCAGTAACCTGGACTGGCCCTTCTGGAGGTCCTGGTCTATCTA... | pathogenic | 48,634 |
Gene TTN variant at chromosome 2, position 178569031—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TGGATTTTTCATTAGTACTGGTGCAGATTCCAAAGGCTCTCCAACACCATATTTGTTGACAGCCATTATACGGAAAACATATTCATTACCTTCTAAGAGTTTGGTAACTTTCAGAGAATTGGTCACAACTTCTGAAGCAACAACAGTCCAGGCAAGTCGACTGGTTTCTCGCTTTTCAACAACATAGTGAGAAATGTCACTGCCACCATCTTGAAGTGGTGGAGACCATGTTAAAGAGCATTTTTCAGAAGTGACTCCAGTAACCTGGACTGGCCCTTCTGGAGGTCCTGGTCTATCTAATACTTTTACATTTACTGGGA... | TGGATTTTTCATTAGTACTGGTGCAGATTCCAAAGGCTCTCCAACACCATATTTGTTGACAGCCATTATACGGAAAACATATTCATTACCTTCTAAGAGTTTGGTAACTTTCAGAGAATTGGTCACAACTTCTGAAGCAACAACAGTCCAGGCAAGTCGACTGGTTTCTCGCTTTTCAACAACATAGTGAGAAATGTCACTGCCACCATCTTGAAGTGGTGGAGACCATGTTAAAGAGCATTTTTCAGAAGTGACTCCAGTAACCTGGACTGGCCCTTCTGGAGGTCCTGGTCTATCTAATACTTTTACATTTACTGGGA... | pathogenic | 48,635 |
The mutation in gene TTN at chromosome 2, position 178569178—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'] | CCAGGCAAGTCGACTGGTTTCTCGCTTTTCAACAACATAGTGAGAAATGTCACTGCCACCATCTTGAAGTGGTGGAGACCATGTTAAAGAGCATTTTTCAGAAGTGACTCCAGTAACCTGGACTGGCCCTTCTGGAGGTCCTGGTCTATCTAATACTTTTACATTTACTGGGAATGACTTAGAACCTGCAACATTGGAAGCTCTTAAAATATACTGCCCACCATCAATTCTAATTGCATCTTTTACAATAAGTAAAGCCTTGAAATCTGTGTTCTTTATTTCACATCTAGCAGATTCTTCAATTTCCTTATCTCCTCTTA... | CCAGGCAAGTCGACTGGTTTCTCGCTTTTCAACAACATAGTGAGAAATGTCACTGCCACCATCTTGAAGTGGTGGAGACCATGTTAAAGAGCATTTTTCAGAAGTGACTCCAGTAACCTGGACTGGCCCTTCTGGAGGTCCTGGTCTATCTAATACTTTTACATTTACTGGGAATGACTTAGAACCTGCAACATTGGAAGCTCTTAAAATATACTGCCCACCATCAATTCTAATTGCATCTTTTACAATAAGTAAAGCCTTGAAATCTGTGTTCTTTATTTCACATCTAGCAGATTCTTCAATTTCCTTATCTCCTCTTA... | pathogenic | 48,643 |
Variant chromosome 2, position 178569227, gene TTN: benign or pathogenic? 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'] | TCACTGCCACCATCTTGAAGTGGTGGAGACCATGTTAAAGAGCATTTTTCAGAAGTGACTCCAGTAACCTGGACTGGCCCTTCTGGAGGTCCTGGTCTATCTAATACTTTTACATTTACTGGGAATGACTTAGAACCTGCAACATTGGAAGCTCTTAAAATATACTGCCCACCATCAATTCTAATTGCATCTTTTACAATAAGTAAAGCCTTGAAATCTGTGTTCTTTATTTCACATCTAGCAGATTCTTCAATTTCCTTATCTCCTCTTAACCACTCAATGGTAGGTAGGGGCTTTCCATGGACATCAGCCTCAAGTCT... | TCACTGCCACCATCTTGAAGTGGTGGAGACCATGTTAAAGAGCATTTTTCAGAAGTGACTCCAGTAACCTGGACTGGCCCTTCTGGAGGTCCTGGTCTATCTAATACTTTTACATTTACTGGGAATGACTTAGAACCTGCAACATTGGAAGCTCTTAAAATATACTGCCCACCATCAATTCTAATTGCATCTTTTACAATAAGTAAAGCCTTGAAATCTGTGTTCTTTATTTCACATCTAGCAGATTCTTCAATTTCCTTATCTCCTCTTAACCACTCAATGGTAGGTAGGGGCTTTCCATGGACATCAGCCTCAAGTCT... | pathogenic | 48,645 |
Is the genetic variant on chromosome 2, position 178569624, gene TTN, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CCTTGGCAGTTATTGGTCCAGTACTGTCAGAGGGTTTACTTATTGCACCAGCTGCATTCTTTGCAATGACTCTGAATTCATATCTTTGATCTTCAGTAAGACCTGACACAGTAAATTGAGTTTCAATGACATTTGTAAAGCTAGCTTTCATCCAACGACCATCAGGCAAATCACGTTTCTCTACAATGTAGCCTGTAATCATACTTCCACCATCATACACAGGTTTGGTCCACTGTAAAGTGATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTGGGTCACAGGGATCTCTGGCTACATAGCATTCAGAA... | CCTTGGCAGTTATTGGTCCAGTACTGTCAGAGGGTTTACTTATTGCACCAGCTGCATTCTTTGCAATGACTCTGAATTCATATCTTTGATCTTCAGTAAGACCTGACACAGTAAATTGAGTTTCAATGACATTTGTAAAGCTAGCTTTCATCCAACGACCATCAGGCAAATCACGTTTCTCTACAATGTAGCCTGTAATCATACTTCCACCATCATACACAGGTTTGGTCCACTGTAAAGTGATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTGGGTCACAGGGATCTCTGGCTACATAGCATTCAGAA... | pathogenic | 48,667 |
Is the chromosome 2, position 178569684 variant in TTN clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TTGCAATGACTCTGAATTCATATCTTTGATCTTCAGTAAGACCTGACACAGTAAATTGAGTTTCAATGACATTTGTAAAGCTAGCTTTCATCCAACGACCATCAGGCAAATCACGTTTCTCTACAATGTAGCCTGTAATCATACTTCCACCATCATACACAGGTTTGGTCCACTGTAAAGTGATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTGGGTCACAGGGATCTCTGGCTACATAGCATTCAGAATTCTTGCTTGCTTTGCCTACACCAACAATATTTTCAGCATACACTCTGAATTCATATTCA... | TTGCAATGACTCTGAATTCATATCTTTGATCTTCAGTAAGACCTGACACAGTAAATTGAGTTTCAATGACATTTGTAAAGCTAGCTTTCATCCAACGACCATCAGGCAAATCACGTTTCTCTACAATGTAGCCTGTAATCATACTTCCACCATCATACACAGGTTTGGTCCACTGTAAAGTGATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTGGGTCACAGGGATCTCTGGCTACATAGCATTCAGAATTCTTGCTTGCTTTGCCTACACCAACAATATTTTCAGCATACACTCTGAATTCATATTCA... | pathogenic | 48,668 |
Does the variant impacting TTN on chromosome 2, position 178569733, 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'] | AGTAAATTGAGTTTCAATGACATTTGTAAAGCTAGCTTTCATCCAACGACCATCAGGCAAATCACGTTTCTCTACAATGTAGCCTGTAATCATACTTCCACCATCATACACAGGTTTGGTCCACTGTAAAGTGATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTGGGTCACAGGGATCTCTGGCTACATAGCATTCAGAATTCTTGCTTGCTTTGCCTACACCAACAATATTTTCAGCATACACTCTGAATTCATATTCAATGCCTTCTTCAAGATTCTGTGCTTTGAATTGGGTGTCATGAATAATAG... | AGTAAATTGAGTTTCAATGACATTTGTAAAGCTAGCTTTCATCCAACGACCATCAGGCAAATCACGTTTCTCTACAATGTAGCCTGTAATCATACTTCCACCATCATACACAGGTTTGGTCCACTGTAAAGTGATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTGGGTCACAGGGATCTCTGGCTACATAGCATTCAGAATTCTTGCTTGCTTTGCCTACACCAACAATATTTTCAGCATACACTCTGAATTCATATTCAATGCCTTCTTCAAGATTCTGTGCTTTGAATTGGGTGTCATGAATAATAG... | pathogenic | 48,670 |
A mutation at chromosome position 178569735 on chromosome 2 in gene TTN: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TAAATTGAGTTTCAATGACATTTGTAAAGCTAGCTTTCATCCAACGACCATCAGGCAAATCACGTTTCTCTACAATGTAGCCTGTAATCATACTTCCACCATCATACACAGGTTTGGTCCACTGTAAAGTGATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTGGGTCACAGGGATCTCTGGCTACATAGCATTCAGAATTCTTGCTTGCTTTGCCTACACCAACAATATTTTCAGCATACACTCTGAATTCATATTCAATGCCTTCTTCAAGATTCTGTGCTTTGAATTGGGTGTCATGAATAATAGTT... | TAAATTGAGTTTCAATGACATTTGTAAAGCTAGCTTTCATCCAACGACCATCAGGCAAATCACGTTTCTCTACAATGTAGCCTGTAATCATACTTCCACCATCATACACAGGTTTGGTCCACTGTAAAGTGATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTGGGTCACAGGGATCTCTGGCTACATAGCATTCAGAATTCTTGCTTGCTTTGCCTACACCAACAATATTTTCAGCATACACTCTGAATTCATATTCAATGCCTTCTTCAAGATTCTGTGCTTTGAATTGGGTGTCATGAATAATAGTT... | pathogenic | 48,671 |
Gene TTN variant at chromosome 2, position 178569745—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Primary_dilated_cardiomyopathy'] | TTCAATGACATTTGTAAAGCTAGCTTTCATCCAACGACCATCAGGCAAATCACGTTTCTCTACAATGTAGCCTGTAATCATACTTCCACCATCATACACAGGTTTGGTCCACTGTAAAGTGATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTGGGTCACAGGGATCTCTGGCTACATAGCATTCAGAATTCTTGCTTGCTTTGCCTACACCAACAATATTTTCAGCATACACTCTGAATTCATATTCAATGCCTTCTTCAAGATTCTGTGCTTTGAATTGGGTGTCATGAATAATAGTTTTGTTGACCT... | TTCAATGACATTTGTAAAGCTAGCTTTCATCCAACGACCATCAGGCAAATCACGTTTCTCTACAATGTAGCCTGTAATCATACTTCCACCATCATACACAGGTTTGGTCCACTGTAAAGTGATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTGGGTCACAGGGATCTCTGGCTACATAGCATTCAGAATTCTTGCTTGCTTTGCCTACACCAACAATATTTTCAGCATACACTCTGAATTCATATTCAATGCCTTCTTCAAGATTCTGTGCTTTGAATTGGGTGTCATGAATAATAGTTTTGTTGACCT... | pathogenic | 48,672 |
Gene TTN variant at chromosome position 178569758 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | GTAAAGCTAGCTTTCATCCAACGACCATCAGGCAAATCACGTTTCTCTACAATGTAGCCTGTAATCATACTTCCACCATCATACACAGGTTTGGTCCACTGTAAAGTGATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTGGGTCACAGGGATCTCTGGCTACATAGCATTCAGAATTCTTGCTTGCTTTGCCTACACCAACAATATTTTCAGCATACACTCTGAATTCATATTCAATGCCTTCTTCAAGATTCTGTGCTTTGAATTGGGTGTCATGAATAATAGTTTTGTTGACCTTTGTCCACAAAAT... | GTAAAGCTAGCTTTCATCCAACGACCATCAGGCAAATCACGTTTCTCTACAATGTAGCCTGTAATCATACTTCCACCATCATACACAGGTTTGGTCCACTGTAAAGTGATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTGGGTCACAGGGATCTCTGGCTACATAGCATTCAGAATTCTTGCTTGCTTTGCCTACACCAACAATATTTTCAGCATACACTCTGAATTCATATTCAATGCCTTCTTCAAGATTCTGTGCTTTGAATTGGGTGTCATGAATAATAGTTTTGTTGACCTTTGTCCACAAAAT... | pathogenic | 48,674 |
Gene TTN variant at chromosome position 178569786 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'] | CAGGCAAATCACGTTTCTCTACAATGTAGCCTGTAATCATACTTCCACCATCATACACAGGTTTGGTCCACTGTAAAGTGATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTGGGTCACAGGGATCTCTGGCTACATAGCATTCAGAATTCTTGCTTGCTTTGCCTACACCAACAATATTTTCAGCATACACTCTGAATTCATATTCAATGCCTTCTTCAAGATTCTGTGCTTTGAATTGGGTGTCATGAATAATAGTTTTGTTGACCTTTGTCCACAAAATACTGTTTCTTTCTTTTCTCTCCAGGTGG... | CAGGCAAATCACGTTTCTCTACAATGTAGCCTGTAATCATACTTCCACCATCATACACAGGTTTGGTCCACTGTAAAGTGATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTGGGTCACAGGGATCTCTGGCTACATAGCATTCAGAATTCTTGCTTGCTTTGCCTACACCAACAATATTTTCAGCATACACTCTGAATTCATATTCAATGCCTTCTTCAAGATTCTGTGCTTTGAATTGGGTGTCATGAATAATAGTTTTGTTGACCTTTGTCCACAAAATACTGTTTCTTTCTTTTCTCTCCAGGTGG... | pathogenic | 48,676 |
Variant on chromosome 2, at position 178569891, affecting TTN: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | GTTCTGGGGTTCCTGGTGGGTCACAGGGATCTCTGGCTACATAGCATTCAGAATTCTTGCTTGCTTTGCCTACACCAACAATATTTTCAGCATACACTCTGAATTCATATTCAATGCCTTCTTCAAGATTCTGTGCTTTGAATTGGGTGTCATGAATAATAGTTTTGTTGACCTTTGTCCACAAAATACTGTTTCTTTCTTTTCTCTCCAGGTGGTAACCTATGACGGGGCTTCCACCATTGTTGACTGGTTCATGCCACTGTATGACCATGGAGTCTTTGGAAATGGCTGTGGCAAATGGTGTACCTGGAGGGCCTGGT... | GTTCTGGGGTTCCTGGTGGGTCACAGGGATCTCTGGCTACATAGCATTCAGAATTCTTGCTTGCTTTGCCTACACCAACAATATTTTCAGCATACACTCTGAATTCATATTCAATGCCTTCTTCAAGATTCTGTGCTTTGAATTGGGTGTCATGAATAATAGTTTTGTTGACCTTTGTCCACAAAATACTGTTTCTTTCTTTTCTCTCCAGGTGGTAACCTATGACGGGGCTTCCACCATTGTTGACTGGTTCATGCCACTGTATGACCATGGAGTCTTTGGAAATGGCTGTGGCAAATGGTGTACCTGGAGGGCCTGGT... | pathogenic | 48,680 |
Gene TTN variant at chromosome position 178569952 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Dilated_cardiomyopathy_1G'] | TGCTTTGCCTACACCAACAATATTTTCAGCATACACTCTGAATTCATATTCAATGCCTTCTTCAAGATTCTGTGCTTTGAATTGGGTGTCATGAATAATAGTTTTGTTGACCTTTGTCCACAAAATACTGTTTCTTTCTTTTCTCTCCAGGTGGTAACCTATGACGGGGCTTCCACCATTGTTGACTGGTTCATGCCACTGTATGACCATGGAGTCTTTGGAAATGGCTGTGGCAAATGGTGTACCTGGAGGGCCTGGTTCTTTGTAGGGATATTGAGCTACAATTGGATCAGACTCTAAGGCAAAGCTTTGTCCATATC... | TGCTTTGCCTACACCAACAATATTTTCAGCATACACTCTGAATTCATATTCAATGCCTTCTTCAAGATTCTGTGCTTTGAATTGGGTGTCATGAATAATAGTTTTGTTGACCTTTGTCCACAAAATACTGTTTCTTTCTTTTCTCTCCAGGTGGTAACCTATGACGGGGCTTCCACCATTGTTGACTGGTTCATGCCACTGTATGACCATGGAGTCTTTGGAAATGGCTGTGGCAAATGGTGTACCTGGAGGGCCTGGTTCTTTGTAGGGATATTGAGCTACAATTGGATCAGACTCTAAGGCAAAGCTTTGTCCATATC... | pathogenic | 48,682 |
Clinical significance of chromosome 2, position 178570016, gene TTN: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | AGATTCTGTGCTTTGAATTGGGTGTCATGAATAATAGTTTTGTTGACCTTTGTCCACAAAATACTGTTTCTTTCTTTTCTCTCCAGGTGGTAACCTATGACGGGGCTTCCACCATTGTTGACTGGTTCATGCCACTGTATGACCATGGAGTCTTTGGAAATGGCTGTGGCAAATGGTGTACCTGGAGGGCCTGGTTCTTTGTAGGGATATTGAGCTACAATTGGATCAGACTCTAAGGCAAAGCTTTGTCCATATCTGTTTTCGGCAAATATTCTAAATTGGTATTCTGTACCAGTTTTCAGTTTGGTCACTTTGAGTGT... | AGATTCTGTGCTTTGAATTGGGTGTCATGAATAATAGTTTTGTTGACCTTTGTCCACAAAATACTGTTTCTTTCTTTTCTCTCCAGGTGGTAACCTATGACGGGGCTTCCACCATTGTTGACTGGTTCATGCCACTGTATGACCATGGAGTCTTTGGAAATGGCTGTGGCAAATGGTGTACCTGGAGGGCCTGGTTCTTTGTAGGGATATTGAGCTACAATTGGATCAGACTCTAAGGCAAAGCTTTGTCCATATCTGTTTTCGGCAAATATTCTAAATTGGTATTCTGTACCAGTTTTCAGTTTGGTCACTTTGAGTGT... | pathogenic | 48,684 |
For chromosome 2, position 178570390, gene TTN: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TTTCTGAACAATGTAGTTGGTGATTTGGCAGCCCCCTGTATATAATGGAGGGTTCCAAGATAATGTAATACTTTCAGCACTGACGTCATCAAATTTAACAGGTCCTTTTGGAGGATCAGGTTTATCTAGAGTTACAATTTCGATGGATGCTGTCTTCTGACCAACAACATTGGCAACTGTGATTCCATATTGTCCACCATCATCCTTATGAGTTTCTTTAATACTGAGTGTGGTGAGATCCAGTGAATCGGTAACATTGATTCTTGTGGTCTGCTTCAGTGGGAGACCATCTTTAGTCCAGGTAATGGTTGGCTTAGGAC... | TTTCTGAACAATGTAGTTGGTGATTTGGCAGCCCCCTGTATATAATGGAGGGTTCCAAGATAATGTAATACTTTCAGCACTGACGTCATCAAATTTAACAGGTCCTTTTGGAGGATCAGGTTTATCTAGAGTTACAATTTCGATGGATGCTGTCTTCTGACCAACAACATTGGCAACTGTGATTCCATATTGTCCACCATCATCCTTATGAGTTTCTTTAATACTGAGTGTGGTGAGATCCAGTGAATCGGTAACATTGATTCTTGTGGTCTGCTTCAGTGGGAGACCATCTTTAGTCCAGGTAATGGTTGGCTTAGGAC... | pathogenic | 48,696 |
A mutation at chromosome position 178570468 on chromosome 2 in gene TTN: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Tibial_muscular_dystrophy'] | ACTGACGTCATCAAATTTAACAGGTCCTTTTGGAGGATCAGGTTTATCTAGAGTTACAATTTCGATGGATGCTGTCTTCTGACCAACAACATTGGCAACTGTGATTCCATATTGTCCACCATCATCCTTATGAGTTTCTTTAATACTGAGTGTGGTGAGATCCAGTGAATCGGTAACATTGATTCTTGTGGTCTGCTTCAGTGGGAGACCATCTTTAGTCCAGGTAATGGTTGGCTTAGGACGTCCAGAAATTGGCACTTCTATTTTCAAATCTTGGCCAACCTGTACACTGTAACTACTGAATGCAGGTTTTACATCTG... | ACTGACGTCATCAAATTTAACAGGTCCTTTTGGAGGATCAGGTTTATCTAGAGTTACAATTTCGATGGATGCTGTCTTCTGACCAACAACATTGGCAACTGTGATTCCATATTGTCCACCATCATCCTTATGAGTTTCTTTAATACTGAGTGTGGTGAGATCCAGTGAATCGGTAACATTGATTCTTGTGGTCTGCTTCAGTGGGAGACCATCTTTAGTCCAGGTAATGGTTGGCTTAGGACGTCCAGAAATTGGCACTTCTATTTTCAAATCTTGGCCAACCTGTACACTGTAACTACTGAATGCAGGTTTTACATCTG... | pathogenic | 48,698 |
Is the variant located on chromosome 2 at position 178570495, 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', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Inborn_genetic_diseases', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Tibial_muscular_... | TTTTGGAGGATCAGGTTTATCTAGAGTTACAATTTCGATGGATGCTGTCTTCTGACCAACAACATTGGCAACTGTGATTCCATATTGTCCACCATCATCCTTATGAGTTTCTTTAATACTGAGTGTGGTGAGATCCAGTGAATCGGTAACATTGATTCTTGTGGTCTGCTTCAGTGGGAGACCATCTTTAGTCCAGGTAATGGTTGGCTTAGGACGTCCAGAAATTGGCACTTCTATTTTCAAATCTTGGCCAACCTGTACACTGTAACTACTGAATGCAGGTTTTACATCTGGCTCAATTACCAGATCTTTGGCAACTA... | TTTTGGAGGATCAGGTTTATCTAGAGTTACAATTTCGATGGATGCTGTCTTCTGACCAACAACATTGGCAACTGTGATTCCATATTGTCCACCATCATCCTTATGAGTTTCTTTAATACTGAGTGTGGTGAGATCCAGTGAATCGGTAACATTGATTCTTGTGGTCTGCTTCAGTGGGAGACCATCTTTAGTCCAGGTAATGGTTGGCTTAGGACGTCCAGAAATTGGCACTTCTATTTTCAAATCTTGGCCAACCTGTACACTGTAACTACTGAATGCAGGTTTTACATCTGGCTCAATTACCAGATCTTTGGCAACTA... | pathogenic | 48,699 |
Is the genetic change at chromosome 2, position 178570563, within gene TTN benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Primary_familial_dilated_cardiomyopathy'] | CAACTGTGATTCCATATTGTCCACCATCATCCTTATGAGTTTCTTTAATACTGAGTGTGGTGAGATCCAGTGAATCGGTAACATTGATTCTTGTGGTCTGCTTCAGTGGGAGACCATCTTTAGTCCAGGTAATGGTTGGCTTAGGACGTCCAGAAATTGGCACTTCTATTTTCAAATCTTGGCCAACCTGTACACTGTAACTACTGAATGCAGGTTTTACATCTGGCTCAATTACCAGATCTTTGGCAACTATTGGAACTGCAAGGGACCGAGGATCACTTCTCCCCTTTTCATTTACAGCAACAACTCTAAAAAGATAT... | CAACTGTGATTCCATATTGTCCACCATCATCCTTATGAGTTTCTTTAATACTGAGTGTGGTGAGATCCAGTGAATCGGTAACATTGATTCTTGTGGTCTGCTTCAGTGGGAGACCATCTTTAGTCCAGGTAATGGTTGGCTTAGGACGTCCAGAAATTGGCACTTCTATTTTCAAATCTTGGCCAACCTGTACACTGTAACTACTGAATGCAGGTTTTACATCTGGCTCAATTACCAGATCTTTGGCAACTATTGGAACTGCAAGGGACCGAGGATCACTTCTCCCCTTTTCATTTACAGCAACAACTCTAAAAAGATAT... | pathogenic | 48,700 |
Is chromosome 2, position 178570990, 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', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Tibial_muscular_dystrophy'] | GATTTTACTGCCACCATCATGTTCAGGTTTTGTCCAACTCAGAGAGACACTGTTTCTGGTGACATCATCCACAGTTATTTTTCCAGGAGGTTGTGGCACTTCTGCAACCTTAATTGGATCAGCAGTCTGGGCAGGAAGGCCAATACCATACTCATTCTCAGCTGTGACTCTAAAGTAATAACTGCAACCTTCTTGGAGCTGATCGATTTTCCAAGAATTCTTATGGCAGTTAGTTACAACAGCAGCATATGATTTTCTTGTGGCTTCACGTTTCTCAACAATGTAATTTTTTATTTTGGATCCCCCATCCAACAAAGGAG... | GATTTTACTGCCACCATCATGTTCAGGTTTTGTCCAACTCAGAGAGACACTGTTTCTGGTGACATCATCCACAGTTATTTTTCCAGGAGGTTGTGGCACTTCTGCAACCTTAATTGGATCAGCAGTCTGGGCAGGAAGGCCAATACCATACTCATTCTCAGCTGTGACTCTAAAGTAATAACTGCAACCTTCTTGGAGCTGATCGATTTTCCAAGAATTCTTATGGCAGTTAGTTACAACAGCAGCATATGATTTTCTTGTGGCTTCACGTTTCTCAACAATGTAATTTTTTATTTTGGATCCCCCATCCAACAAAGGAG... | pathogenic | 48,717 |
Regarding the variant at chromosome 2 and position 178571140, affecting gene TTN: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CTCATTCTCAGCTGTGACTCTAAAGTAATAACTGCAACCTTCTTGGAGCTGATCGATTTTCCAAGAATTCTTATGGCAGTTAGTTACAACAGCAGCATATGATTTTCTTGTGGCTTCACGTTTCTCAACAATGTAATTTTTTATTTTGGATCCCCCATCCAACAAAGGAGGTTCCCATGTAATTGATACTGAGTCTTTGGTGATTTCTGTGACTTTCAGGTTAACAGGTGGACTTGGCGTGTCCAGAACTCTCACAGTAACAAAGGCAGACTTTGTTCCACTGCTGTTTTCTAATGTAAGCGTATATTTTCCACTATCAT... | CTCATTCTCAGCTGTGACTCTAAAGTAATAACTGCAACCTTCTTGGAGCTGATCGATTTTCCAAGAATTCTTATGGCAGTTAGTTACAACAGCAGCATATGATTTTCTTGTGGCTTCACGTTTCTCAACAATGTAATTTTTTATTTTGGATCCCCCATCCAACAAAGGAGGTTCCCATGTAATTGATACTGAGTCTTTGGTGATTTCTGTGACTTTCAGGTTAACAGGTGGACTTGGCGTGTCCAGAACTCTCACAGTAACAAAGGCAGACTTTGTTCCACTGCTGTTTTCTAATGTAAGCGTATATTTTCCACTATCAT... | pathogenic | 48,721 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 178571248, gene TTN. What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiomyopathy', 'Primary_dilated_cardiomyopathy'] | TGTGGCTTCACGTTTCTCAACAATGTAATTTTTTATTTTGGATCCCCCATCCAACAAAGGAGGTTCCCATGTAATTGATACTGAGTCTTTGGTGATTTCTGTGACTTTCAGGTTAACAGGTGGACTTGGCGTGTCCAGAACTCTCACAGTAACAAAGGCAGACTTTGTTCCACTGCTGTTTTCTAATGTAAGCGTATATTTTCCACTATCATATCGGTTGACATTGTCAAGAACAAGAGAGGTGAAACTGCTAGTGACATCAATTATAGCTGCATCTCGGATTTCACCATCCACCTTTCCCCATTTAACTTCTGGTGTAG... | TGTGGCTTCACGTTTCTCAACAATGTAATTTTTTATTTTGGATCCCCCATCCAACAAAGGAGGTTCCCATGTAATTGATACTGAGTCTTTGGTGATTTCTGTGACTTTCAGGTTAACAGGTGGACTTGGCGTGTCCAGAACTCTCACAGTAACAAAGGCAGACTTTGTTCCACTGCTGTTTTCTAATGTAAGCGTATATTTTCCACTATCATATCGGTTGACATTGTCAAGAACAAGAGAGGTGAAACTGCTAGTGACATCAATTATAGCTGCATCTCGGATTTCACCATCCACCTTTCCCCATTTAACTTCTGGTGTAG... | pathogenic | 48,727 |
Variant in TTN, chromosome 2, position 178571523—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CTCGGATTTCACCATCCACCTTTCCCCATTTAACTTCTGGTGTAGGACGACCTTTTATAGGAACAAATAACCTTAAGGAGCCACCTGCCCTTATATTTATGATTTTCCTTAGTTCTAGGTCAAGATCAATGTCTGGTGCTTCTAATTTTTCTTCAACTATAATAGGTCCAGGGACGTCAGCATGTTCTCCAACTCCAGCTTTATTAATAGCACAGATACGGAAGTTGTATTCATGCTTTTCCAACAGCTTCTCTACTTCTATGTTTGTTTTATTAATTCCTGTTGGTGGAGTGCACATTGTCCATTCACCAACACTCACA... | CTCGGATTTCACCATCCACCTTTCCCCATTTAACTTCTGGTGTAGGACGACCTTTTATAGGAACAAATAACCTTAAGGAGCCACCTGCCCTTATATTTATGATTTTCCTTAGTTCTAGGTCAAGATCAATGTCTGGTGCTTCTAATTTTTCTTCAACTATAATAGGTCCAGGGACGTCAGCATGTTCTCCAACTCCAGCTTTATTAATAGCACAGATACGGAAGTTGTATTCATGCTTTTCCAACAGCTTCTCTACTTCTATGTTTGTTTTATTAATTCCTGTTGGTGGAGTGCACATTGTCCATTCACCAACACTCACA... | pathogenic | 48,734 |
Gene TTN variant at chromosome position 178571756 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Tibial_muscular_dystrophy'] | TGCTTTTCCAACAGCTTCTCTACTTCTATGTTTGTTTTATTAATTCCTGTTGGTGGAGTGCACATTGTCCATTCACCAACACTCACATCACATTTTTCAACAATGTATCCTTGAATTTCACAGCCACCATCATATATTGGTTTGCTCCAAGAAAGGAATACTGAAGATCTGGTTATGTCTATGACTTTGGGGTTGTTTGGGGGTCCTGGTTTATAAATAGGATCACAAGCCTTTTGGTAAGCAGAAGGAGGGCTTGGTTCACTAAGTCCAGCAGCATTCTCAGCAGAAACTCTGAACTCATAATCGTGATTTTCTATGAG... | TGCTTTTCCAACAGCTTCTCTACTTCTATGTTTGTTTTATTAATTCCTGTTGGTGGAGTGCACATTGTCCATTCACCAACACTCACATCACATTTTTCAACAATGTATCCTTGAATTTCACAGCCACCATCATATATTGGTTTGCTCCAAGAAAGGAATACTGAAGATCTGGTTATGTCTATGACTTTGGGGTTGTTTGGGGGTCCTGGTTTATAAATAGGATCACAAGCCTTTTGGTAAGCAGAAGGAGGGCTTGGTTCACTAAGTCCAGCAGCATTCTCAGCAGAAACTCTGAACTCATAATCGTGATTTTCTATGAG... | pathogenic | 48,742 |
Variant at chromosome 2, position 178572102, 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'] | CAATCAGACGCTTATGGCATCTTGTCCATCTAATGCCTTCTTTATCCCGTTTCTCAAGAACATATCCAAGAATTTCACTACCACCATCAGATGCTGGTCTTTCCCATACAACAATCATTGAGTCCTTGGTCACTGTTGTGACTTCTGGAGCTTTTGGTGCATCTGGTACTACAAATGGATTCTTGGCAACTACTGGCTCAGATTCAAGAGGTTCACCAACACCATATTTGTTTACTGCCATTATACGGAAAGTATATTCATTGCCTTCAAGAAGCTTAGTAACCTTGCAGCTGAGAGTCTGCACATTGGCATCAACCACA... | CAATCAGACGCTTATGGCATCTTGTCCATCTAATGCCTTCTTTATCCCGTTTCTCAAGAACATATCCAAGAATTTCACTACCACCATCAGATGCTGGTCTTTCCCATACAACAATCATTGAGTCCTTGGTCACTGTTGTGACTTCTGGAGCTTTTGGTGCATCTGGTACTACAAATGGATTCTTGGCAACTACTGGCTCAGATTCAAGAGGTTCACCAACACCATATTTGTTTACTGCCATTATACGGAAAGTATATTCATTGCCTTCAAGAAGCTTAGTAACCTTGCAGCTGAGAGTCTGCACATTGGCATCAACCACA... | pathogenic | 48,755 |
The chromosome 2, position 178572116 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'] | TGGCATCTTGTCCATCTAATGCCTTCTTTATCCCGTTTCTCAAGAACATATCCAAGAATTTCACTACCACCATCAGATGCTGGTCTTTCCCATACAACAATCATTGAGTCCTTGGTCACTGTTGTGACTTCTGGAGCTTTTGGTGCATCTGGTACTACAAATGGATTCTTGGCAACTACTGGCTCAGATTCAAGAGGTTCACCAACACCATATTTGTTTACTGCCATTATACGGAAAGTATATTCATTGCCTTCAAGAAGCTTAGTAACCTTGCAGCTGAGAGTCTGCACATTGGCATCAACCACAGTCCAAACTAAGCG... | TGGCATCTTGTCCATCTAATGCCTTCTTTATCCCGTTTCTCAAGAACATATCCAAGAATTTCACTACCACCATCAGATGCTGGTCTTTCCCATACAACAATCATTGAGTCCTTGGTCACTGTTGTGACTTCTGGAGCTTTTGGTGCATCTGGTACTACAAATGGATTCTTGGCAACTACTGGCTCAGATTCAAGAGGTTCACCAACACCATATTTGTTTACTGCCATTATACGGAAAGTATATTCATTGCCTTCAAGAAGCTTAGTAACCTTGCAGCTGAGAGTCTGCACATTGGCATCAACCACAGTCCAAACTAAGCG... | pathogenic | 48,757 |
Does the chromosome 2 mutation at position 178572286 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', 'Primary_dilated_cardiomyopathy', 'Primary_familial_dilated_cardiomyopathy'] | GGCAACTACTGGCTCAGATTCAAGAGGTTCACCAACACCATATTTGTTTACTGCCATTATACGGAAAGTATATTCATTGCCTTCAAGAAGCTTAGTAACCTTGCAGCTGAGAGTCTGCACATTGGCATCAACCACAGTCCAAACTAAGCGGCTGGTTTCTCTCCTTTCCACAATATAATTTATGATGTCACTCCCACCATCCTGAAGTGGGGGTTTCCAAGCTAGTGTGCATTTTTCTGCTGTAACTCCTGAGATAACAACAGGTCCTTCAGGTGGCCCTGGTCTGTCAAGAACCTTGACATTCACAGTAACTGATCTTT... | GGCAACTACTGGCTCAGATTCAAGAGGTTCACCAACACCATATTTGTTTACTGCCATTATACGGAAAGTATATTCATTGCCTTCAAGAAGCTTAGTAACCTTGCAGCTGAGAGTCTGCACATTGGCATCAACCACAGTCCAAACTAAGCGGCTGGTTTCTCTCCTTTCCACAATATAATTTATGATGTCACTCCCACCATCCTGAAGTGGGGGTTTCCAAGCTAGTGTGCATTTTTCTGCTGTAACTCCTGAGATAACAACAGGTCCTTCAGGTGGCCCTGGTCTGTCAAGAACCTTGACATTCACAGTAACTGATCTTT... | pathogenic | 48,764 |
Chromosome 2, position 178572296, 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', 'Primary_dilated_cardiomyopathy'] | GGCTCAGATTCAAGAGGTTCACCAACACCATATTTGTTTACTGCCATTATACGGAAAGTATATTCATTGCCTTCAAGAAGCTTAGTAACCTTGCAGCTGAGAGTCTGCACATTGGCATCAACCACAGTCCAAACTAAGCGGCTGGTTTCTCTCCTTTCCACAATATAATTTATGATGTCACTCCCACCATCCTGAAGTGGGGGTTTCCAAGCTAGTGTGCATTTTTCTGCTGTAACTCCTGAGATAACAACAGGTCCTTCAGGTGGCCCTGGTCTGTCAAGAACCTTGACATTCACAGTAACTGATCTTTCTCCTGCAAC... | GGCTCAGATTCAAGAGGTTCACCAACACCATATTTGTTTACTGCCATTATACGGAAAGTATATTCATTGCCTTCAAGAAGCTTAGTAACCTTGCAGCTGAGAGTCTGCACATTGGCATCAACCACAGTCCAAACTAAGCGGCTGGTTTCTCTCCTTTCCACAATATAATTTATGATGTCACTCCCACCATCCTGAAGTGGGGGTTTCCAAGCTAGTGTGCATTTTTCTGCTGTAACTCCTGAGATAACAACAGGTCCTTCAGGTGGCCCTGGTCTGTCAAGAACCTTGACATTCACAGTAACTGATCTTTCTCCTGCAAC... | pathogenic | 48,765 |
The genetic variant at chromosome 2, position 178572563, affecting gene TTN: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | CCTGGTCTGTCAAGAACCTTGACATTCACAGTAACTGATCTTTCTCCTGCAACATTTTTGGCCTTCAGTATGTAATTTCCACTGTCGACACGTACTGCATCTTTTACACTGAGACTGGTGGCAAAGTCGGTGCTCTTTATTTCTAATCGAGCTGTGTTTGAAAGCTCCTGATCACCTTTTATCCACTGAATGGTTGGTATTGGTTTGCCATAAATATCTGCATCAACCTTGAATGATTCACCAGCATGAACCACGATTGTGTCTTTGTATTTTGGATCCATACTTATTCGTGGTGGATCTACCTCATCTCTAGCTGTTAT... | CCTGGTCTGTCAAGAACCTTGACATTCACAGTAACTGATCTTTCTCCTGCAACATTTTTGGCCTTCAGTATGTAATTTCCACTGTCGACACGTACTGCATCTTTTACACTGAGACTGGTGGCAAAGTCGGTGCTCTTTATTTCTAATCGAGCTGTGTTTGAAAGCTCCTGATCACCTTTTATCCACTGAATGGTTGGTATTGGTTTGCCATAAATATCTGCATCAACCTTGAATGATTCACCAGCATGAACCACGATTGTGTCTTTGTATTTTGGATCCATACTTATTCGTGGTGGATCTACCTCATCTCTAGCTGTTAT... | pathogenic | 48,778 |
Evaluate this variant at chromosome 2, position 178572623, 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'] | GCCTTCAGTATGTAATTTCCACTGTCGACACGTACTGCATCTTTTACACTGAGACTGGTGGCAAAGTCGGTGCTCTTTATTTCTAATCGAGCTGTGTTTGAAAGCTCCTGATCACCTTTTATCCACTGAATGGTTGGTATTGGTTTGCCATAAATATCTGCATCAACCTTGAATGATTCACCAGCATGAACCACGATTGTGTCTTTGTATTTTGGATCCATACTTATTCGTGGTGGATCTACCTCATCTCTAGCTGTTATTGCTCCTGTGCTTTCTGAAGGCTCACTAAACACTCCTGCGGCATTTCGGGCTATAACCCG... | GCCTTCAGTATGTAATTTCCACTGTCGACACGTACTGCATCTTTTACACTGAGACTGGTGGCAAAGTCGGTGCTCTTTATTTCTAATCGAGCTGTGTTTGAAAGCTCCTGATCACCTTTTATCCACTGAATGGTTGGTATTGGTTTGCCATAAATATCTGCATCAACCTTGAATGATTCACCAGCATGAACCACGATTGTGTCTTTGTATTTTGGATCCATACTTATTCGTGGTGGATCTACCTCATCTCTAGCTGTTATTGCTCCTGTGCTTTCTGAAGGCTCACTAAACACTCCTGCGGCATTTCGGGCTATAACCCG... | pathogenic | 48,784 |
Is the genetic change at chromosome 2, position 178572744, within gene TTN benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | TCCACTGAATGGTTGGTATTGGTTTGCCATAAATATCTGCATCAACCTTGAATGATTCACCAGCATGAACCACGATTGTGTCTTTGTATTTTGGATCCATACTTATTCGTGGTGGATCTACCTCATCTCTAGCTGTTATTGCTCCTGTGCTTTCTGAAGGCTCACTAAACACTCCTGCGGCATTTCGGGCTATAACCCGGAACTCATATCTGTGATCTTCAACTAGGCCAGTTACTTCAAAATGAGTGTCAATAATATTTGTAAAACTGGCTTTCATCCAACGGCCCTCAGGTAATTCTTTCTTCTCAACAATATAACCA... | TCCACTGAATGGTTGGTATTGGTTTGCCATAAATATCTGCATCAACCTTGAATGATTCACCAGCATGAACCACGATTGTGTCTTTGTATTTTGGATCCATACTTATTCGTGGTGGATCTACCTCATCTCTAGCTGTTATTGCTCCTGTGCTTTCTGAAGGCTCACTAAACACTCCTGCGGCATTTCGGGCTATAACCCGGAACTCATATCTGTGATCTTCAACTAGGCCAGTTACTTCAAAATGAGTGTCAATAATATTTGTAAAACTGGCTTTCATCCAACGGCCCTCAGGTAATTCTTTCTTCTCAACAATATAACCA... | pathogenic | 48,788 |
Determine whether the variant at chromosome 2, position 178572784, in gene TTN is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G'] | ATCAACCTTGAATGATTCACCAGCATGAACCACGATTGTGTCTTTGTATTTTGGATCCATACTTATTCGTGGTGGATCTACCTCATCTCTAGCTGTTATTGCTCCTGTGCTTTCTGAAGGCTCACTAAACACTCCTGCGGCATTTCGGGCTATAACCCGGAACTCATATCTGTGATCTTCAACTAGGCCAGTTACTTCAAAATGAGTGTCAATAATATTTGTAAAACTGGCTTTCATCCAACGGCCCTCAGGTAATTCTTTCTTCTCAACAATATAACCAGTGATCTTGCTTCCACCGTCATAGGTGGGTTTCTTCCACT... | ATCAACCTTGAATGATTCACCAGCATGAACCACGATTGTGTCTTTGTATTTTGGATCCATACTTATTCGTGGTGGATCTACCTCATCTCTAGCTGTTATTGCTCCTGTGCTTTCTGAAGGCTCACTAAACACTCCTGCGGCATTTCGGGCTATAACCCGGAACTCATATCTGTGATCTTCAACTAGGCCAGTTACTTCAAAATGAGTGTCAATAATATTTGTAAAACTGGCTTTCATCCAACGGCCCTCAGGTAATTCTTTCTTCTCAACAATATAACCAGTGATCTTGCTTCCACCGTCATAGGTGGGTTTCTTCCACT... | pathogenic | 48,790 |
Variant at chromosome position 178572784, 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'] | ATCAACCTTGAATGATTCACCAGCATGAACCACGATTGTGTCTTTGTATTTTGGATCCATACTTATTCGTGGTGGATCTACCTCATCTCTAGCTGTTATTGCTCCTGTGCTTTCTGAAGGCTCACTAAACACTCCTGCGGCATTTCGGGCTATAACCCGGAACTCATATCTGTGATCTTCAACTAGGCCAGTTACTTCAAAATGAGTGTCAATAATATTTGTAAAACTGGCTTTCATCCAACGGCCCTCAGGTAATTCTTTCTTCTCAACAATATAACCAGTGATCTTGCTTCCACCGTCATAGGTGGGTTTCTTCCACT... | ATCAACCTTGAATGATTCACCAGCATGAACCACGATTGTGTCTTTGTATTTTGGATCCATACTTATTCGTGGTGGATCTACCTCATCTCTAGCTGTTATTGCTCCTGTGCTTTCTGAAGGCTCACTAAACACTCCTGCGGCATTTCGGGCTATAACCCGGAACTCATATCTGTGATCTTCAACTAGGCCAGTTACTTCAAAATGAGTGTCAATAATATTTGTAAAACTGGCTTTCATCCAACGGCCCTCAGGTAATTCTTTCTTCTCAACAATATAACCAGTGATCTTGCTTCCACCGTCATAGGTGGGTTTCTTCCACT... | pathogenic | 48,791 |
The mutation in gene TTN at chromosome 2, position 178572800—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'] | TCACCAGCATGAACCACGATTGTGTCTTTGTATTTTGGATCCATACTTATTCGTGGTGGATCTACCTCATCTCTAGCTGTTATTGCTCCTGTGCTTTCTGAAGGCTCACTAAACACTCCTGCGGCATTTCGGGCTATAACCCGGAACTCATATCTGTGATCTTCAACTAGGCCAGTTACTTCAAAATGAGTGTCAATAATATTTGTAAAACTGGCTTTCATCCAACGGCCCTCAGGTAATTCTTTCTTCTCAACAATATAACCAGTGATCTTGCTTCCACCGTCATAGGTGGGTTTCTTCCACTGAAGAGTCACAGAATT... | TCACCAGCATGAACCACGATTGTGTCTTTGTATTTTGGATCCATACTTATTCGTGGTGGATCTACCTCATCTCTAGCTGTTATTGCTCCTGTGCTTTCTGAAGGCTCACTAAACACTCCTGCGGCATTTCGGGCTATAACCCGGAACTCATATCTGTGATCTTCAACTAGGCCAGTTACTTCAAAATGAGTGTCAATAATATTTGTAAAACTGGCTTTCATCCAACGGCCCTCAGGTAATTCTTTCTTCTCAACAATATAACCAGTGATCTTGCTTCCACCGTCATAGGTGGGTTTCTTCCACTGAAGAGTCACAGAATT... | pathogenic | 48,793 |
Variant in gene TTN, located at chromosome 2 position 178573167: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CACGAGCCACATAACATTCTGATACTTTACTCGGCTTGCCAATGCCCACGATGTTCTCTGCAGAGACTCTAAATTCATATTCAACACCTTCTTCAAGGCCAGTTGTCTTAAACTTGGTTTGAGGAATAGGTGTTTTATTCAACTTAACCCAGAGGATGCTATTTCTTTCCTTGCGTTCTAGATGATAGCCAATGACTCTACTTCCTCCATCACTGATTGGCTCATTCCATTGTACTTCCATGCTGTCCCTGGAGGACAGTGTGACAACTGGAGTGCCAGGAGGACCAGGAACTTTGAATGGATATTGGGCTACAGTAGGC... | CACGAGCCACATAACATTCTGATACTTTACTCGGCTTGCCAATGCCCACGATGTTCTCTGCAGAGACTCTAAATTCATATTCAACACCTTCTTCAAGGCCAGTTGTCTTAAACTTGGTTTGAGGAATAGGTGTTTTATTCAACTTAACCCAGAGGATGCTATTTCTTTCCTTGCGTTCTAGATGATAGCCAATGACTCTACTTCCTCCATCACTGATTGGCTCATTCCATTGTACTTCCATGCTGTCCCTGGAGGACAGTGTGACAACTGGAGTGCCAGGAGGACCAGGAACTTTGAATGGATATTGGGCTACAGTAGGC... | pathogenic | 48,811 |
Does the variant impacting TTN on chromosome 2, position 178573168, 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'] | ACGAGCCACATAACATTCTGATACTTTACTCGGCTTGCCAATGCCCACGATGTTCTCTGCAGAGACTCTAAATTCATATTCAACACCTTCTTCAAGGCCAGTTGTCTTAAACTTGGTTTGAGGAATAGGTGTTTTATTCAACTTAACCCAGAGGATGCTATTTCTTTCCTTGCGTTCTAGATGATAGCCAATGACTCTACTTCCTCCATCACTGATTGGCTCATTCCATTGTACTTCCATGCTGTCCCTGGAGGACAGTGTGACAACTGGAGTGCCAGGAGGACCAGGAACTTTGAATGGATATTGGGCTACAGTAGGCT... | ACGAGCCACATAACATTCTGATACTTTACTCGGCTTGCCAATGCCCACGATGTTCTCTGCAGAGACTCTAAATTCATATTCAACACCTTCTTCAAGGCCAGTTGTCTTAAACTTGGTTTGAGGAATAGGTGTTTTATTCAACTTAACCCAGAGGATGCTATTTCTTTCCTTGCGTTCTAGATGATAGCCAATGACTCTACTTCCTCCATCACTGATTGGCTCATTCCATTGTACTTCCATGCTGTCCCTGGAGGACAGTGTGACAACTGGAGTGCCAGGAGGACCAGGAACTTTGAATGGATATTGGGCTACAGTAGGCT... | pathogenic | 48,812 |
Variant at chromosome 2, position 178573192, 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'] | TTTACTCGGCTTGCCAATGCCCACGATGTTCTCTGCAGAGACTCTAAATTCATATTCAACACCTTCTTCAAGGCCAGTTGTCTTAAACTTGGTTTGAGGAATAGGTGTTTTATTCAACTTAACCCAGAGGATGCTATTTCTTTCCTTGCGTTCTAGATGATAGCCAATGACTCTACTTCCTCCATCACTGATTGGCTCATTCCATTGTACTTCCATGCTGTCCCTGGAGGACAGTGTGACAACTGGAGTGCCAGGAGGACCAGGAACTTTGAATGGATATTGGGCTACAGTAGGCTCTGAATTGAGGTAGGTACTCTTCC... | TTTACTCGGCTTGCCAATGCCCACGATGTTCTCTGCAGAGACTCTAAATTCATATTCAACACCTTCTTCAAGGCCAGTTGTCTTAAACTTGGTTTGAGGAATAGGTGTTTTATTCAACTTAACCCAGAGGATGCTATTTCTTTCCTTGCGTTCTAGATGATAGCCAATGACTCTACTTCCTCCATCACTGATTGGCTCATTCCATTGTACTTCCATGCTGTCCCTGGAGGACAGTGTGACAACTGGAGTGCCAGGAGGACCAGGAACTTTGAATGGATATTGGGCTACAGTAGGCTCTGAATTGAGGTAGGTACTCTTCC... | pathogenic | 48,814 |
Considering the variant on chromosome 2, location 178573282, 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_1A', 'Dilated_cardiomyopathy_1G'] | GGTTTGAGGAATAGGTGTTTTATTCAACTTAACCCAGAGGATGCTATTTCTTTCCTTGCGTTCTAGATGATAGCCAATGACTCTACTTCCTCCATCACTGATTGGCTCATTCCATTGTACTTCCATGCTGTCCCTGGAGGACAGTGTGACAACTGGAGTGCCAGGAGGACCAGGAACTTTGAATGGATATTGGGCTACAGTAGGCTCTGAATTGAGGTAGGTACTCTTCCCATATCTGTTTTCAGCTGCAATTCTAAACTGATATTCACATCCAGTCTTCAGTCTGCAAGCCTTTATTGTTGTCCTTGCAACTGTAGCTG... | GGTTTGAGGAATAGGTGTTTTATTCAACTTAACCCAGAGGATGCTATTTCTTTCCTTGCGTTCTAGATGATAGCCAATGACTCTACTTCCTCCATCACTGATTGGCTCATTCCATTGTACTTCCATGCTGTCCCTGGAGGACAGTGTGACAACTGGAGTGCCAGGAGGACCAGGAACTTTGAATGGATATTGGGCTACAGTAGGCTCTGAATTGAGGTAGGTACTCTTCCCATATCTGTTTTCAGCTGCAATTCTAAACTGATATTCACATCCAGTCTTCAGTCTGCAAGCCTTTATTGTTGTCCTTGCAACTGTAGCTG... | pathogenic | 48,817 |
Located at chromosome 2 position 178573299, the variant affecting gene TTN—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Primary_dilated_cardiomyopathy'] | TTTTATTCAACTTAACCCAGAGGATGCTATTTCTTTCCTTGCGTTCTAGATGATAGCCAATGACTCTACTTCCTCCATCACTGATTGGCTCATTCCATTGTACTTCCATGCTGTCCCTGGAGGACAGTGTGACAACTGGAGTGCCAGGAGGACCAGGAACTTTGAATGGATATTGGGCTACAGTAGGCTCTGAATTGAGGTAGGTACTCTTCCCATATCTGTTTTCAGCTGCAATTCTAAACTGATATTCACATCCAGTCTTCAGTCTGCAAGCCTTTATTGTTGTCCTTGCAACTGTAGCTGATACAATTTGCCAGGTG... | TTTTATTCAACTTAACCCAGAGGATGCTATTTCTTTCCTTGCGTTCTAGATGATAGCCAATGACTCTACTTCCTCCATCACTGATTGGCTCATTCCATTGTACTTCCATGCTGTCCCTGGAGGACAGTGTGACAACTGGAGTGCCAGGAGGACCAGGAACTTTGAATGGATATTGGGCTACAGTAGGCTCTGAATTGAGGTAGGTACTCTTCCCATATCTGTTTTCAGCTGCAATTCTAAACTGATATTCACATCCAGTCTTCAGTCTGCAAGCCTTTATTGTTGTCCTTGCAACTGTAGCTGATACAATTTGCCAGGTG... | pathogenic | 48,818 |
Does the variant impacting TTN on chromosome 2, position 178573300, 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', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Tibial_muscular_dystrophy'] | TTTATTCAACTTAACCCAGAGGATGCTATTTCTTTCCTTGCGTTCTAGATGATAGCCAATGACTCTACTTCCTCCATCACTGATTGGCTCATTCCATTGTACTTCCATGCTGTCCCTGGAGGACAGTGTGACAACTGGAGTGCCAGGAGGACCAGGAACTTTGAATGGATATTGGGCTACAGTAGGCTCTGAATTGAGGTAGGTACTCTTCCCATATCTGTTTTCAGCTGCAATTCTAAACTGATATTCACATCCAGTCTTCAGTCTGCAAGCCTTTATTGTTGTCCTTGCAACTGTAGCTGATACAATTTGCCAGGTGG... | TTTATTCAACTTAACCCAGAGGATGCTATTTCTTTCCTTGCGTTCTAGATGATAGCCAATGACTCTACTTCCTCCATCACTGATTGGCTCATTCCATTGTACTTCCATGCTGTCCCTGGAGGACAGTGTGACAACTGGAGTGCCAGGAGGACCAGGAACTTTGAATGGATATTGGGCTACAGTAGGCTCTGAATTGAGGTAGGTACTCTTCCCATATCTGTTTTCAGCTGCAATTCTAAACTGATATTCACATCCAGTCTTCAGTCTGCAAGCCTTTATTGTTGTCCTTGCAACTGTAGCTGATACAATTTGCCAGGTGG... | pathogenic | 48,819 |
Regarding the variant found on chromosome 2 at position 178573305 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', 'TTN-related_disorder'] | TCAACTTAACCCAGAGGATGCTATTTCTTTCCTTGCGTTCTAGATGATAGCCAATGACTCTACTTCCTCCATCACTGATTGGCTCATTCCATTGTACTTCCATGCTGTCCCTGGAGGACAGTGTGACAACTGGAGTGCCAGGAGGACCAGGAACTTTGAATGGATATTGGGCTACAGTAGGCTCTGAATTGAGGTAGGTACTCTTCCCATATCTGTTTTCAGCTGCAATTCTAAACTGATATTCACATCCAGTCTTCAGTCTGCAAGCCTTTATTGTTGTCCTTGCAACTGTAGCTGATACAATTTGCCAGGTGGTTGTG... | TCAACTTAACCCAGAGGATGCTATTTCTTTCCTTGCGTTCTAGATGATAGCCAATGACTCTACTTCCTCCATCACTGATTGGCTCATTCCATTGTACTTCCATGCTGTCCCTGGAGGACAGTGTGACAACTGGAGTGCCAGGAGGACCAGGAACTTTGAATGGATATTGGGCTACAGTAGGCTCTGAATTGAGGTAGGTACTCTTCCCATATCTGTTTTCAGCTGCAATTCTAAACTGATATTCACATCCAGTCTTCAGTCTGCAAGCCTTTATTGTTGTCCTTGCAACTGTAGCTGATACAATTTGCCAGGTGGTTGTG... | pathogenic | 48,820 |
Gene mutation in TTN at chromosome 2, position 178573305—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G'] | TCAACTTAACCCAGAGGATGCTATTTCTTTCCTTGCGTTCTAGATGATAGCCAATGACTCTACTTCCTCCATCACTGATTGGCTCATTCCATTGTACTTCCATGCTGTCCCTGGAGGACAGTGTGACAACTGGAGTGCCAGGAGGACCAGGAACTTTGAATGGATATTGGGCTACAGTAGGCTCTGAATTGAGGTAGGTACTCTTCCCATATCTGTTTTCAGCTGCAATTCTAAACTGATATTCACATCCAGTCTTCAGTCTGCAAGCCTTTATTGTTGTCCTTGCAACTGTAGCTGATACAATTTGCCAGGTGGTTGTG... | TCAACTTAACCCAGAGGATGCTATTTCTTTCCTTGCGTTCTAGATGATAGCCAATGACTCTACTTCCTCCATCACTGATTGGCTCATTCCATTGTACTTCCATGCTGTCCCTGGAGGACAGTGTGACAACTGGAGTGCCAGGAGGACCAGGAACTTTGAATGGATATTGGGCTACAGTAGGCTCTGAATTGAGGTAGGTACTCTTCCCATATCTGTTTTCAGCTGCAATTCTAAACTGATATTCACATCCAGTCTTCAGTCTGCAAGCCTTTATTGTTGTCCTTGCAACTGTAGCTGATACAATTTGCCAGGTGGTTGTG... | pathogenic | 48,821 |
Variant on chromosome 2, at position 178573462, affecting TTN: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | GAATGGATATTGGGCTACAGTAGGCTCTGAATTGAGGTAGGTACTCTTCCCATATCTGTTTTCAGCTGCAATTCTAAACTGATATTCACATCCAGTCTTCAGTCTGCAAGCCTTTATTGTTGTCCTTGCAACTGTAGCTGATACAATTTGCCAGGTGGTTGTGGAAGTGTCCCGTTTCTCAACAATGTAATTATTGATAGAACTTCCACCATCATACTTGGGTGGGCCCCAGGAAAGAGTAATACTATCAGCTGTCACTTCATCCATTTTAACTGGTCCAGTTGGAGGCCCTGGTTTGTCAAGAACGATAACATTAAGGG... | GAATGGATATTGGGCTACAGTAGGCTCTGAATTGAGGTAGGTACTCTTCCCATATCTGTTTTCAGCTGCAATTCTAAACTGATATTCACATCCAGTCTTCAGTCTGCAAGCCTTTATTGTTGTCCTTGCAACTGTAGCTGATACAATTTGCCAGGTGGTTGTGGAAGTGTCCCGTTTCTCAACAATGTAATTATTGATAGAACTTCCACCATCATACTTGGGTGGGCCCCAGGAAAGAGTAATACTATCAGCTGTCACTTCATCCATTTTAACTGGTCCAGTTGGAGGCCCTGGTTTGTCAAGAACGATAACATTAAGGG... | pathogenic | 48,829 |
Variant at chromosome 2, position 178573501, 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'] | GGTACTCTTCCCATATCTGTTTTCAGCTGCAATTCTAAACTGATATTCACATCCAGTCTTCAGTCTGCAAGCCTTTATTGTTGTCCTTGCAACTGTAGCTGATACAATTTGCCAGGTGGTTGTGGAAGTGTCCCGTTTCTCAACAATGTAATTATTGATAGAACTTCCACCATCATACTTGGGTGGGCCCCAGGAAAGAGTAATACTATCAGCTGTCACTTCATCCATTTTAACTGGTCCAGTTGGAGGCCCTGGTTTGTCAAGAACGATAACATTAAGGGTTTCAATAGCTTCACCAGCTGAGTTAGTCAGTTTAACCA... | GGTACTCTTCCCATATCTGTTTTCAGCTGCAATTCTAAACTGATATTCACATCCAGTCTTCAGTCTGCAAGCCTTTATTGTTGTCCTTGCAACTGTAGCTGATACAATTTGCCAGGTGGTTGTGGAAGTGTCCCGTTTCTCAACAATGTAATTATTGATAGAACTTCCACCATCATACTTGGGTGGGCCCCAGGAAAGAGTAATACTATCAGCTGTCACTTCATCCATTTTAACTGGTCCAGTTGGAGGCCCTGGTTTGTCAAGAACGATAACATTAAGGGTTTCAATAGCTTCACCAGCTGAGTTAGTCAGTTTAACCA... | pathogenic | 48,833 |
Is the genetic variant on chromosome 2, position 178573518, gene TTN, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Tibial_muscular_dystrophy'] | TGTTTTCAGCTGCAATTCTAAACTGATATTCACATCCAGTCTTCAGTCTGCAAGCCTTTATTGTTGTCCTTGCAACTGTAGCTGATACAATTTGCCAGGTGGTTGTGGAAGTGTCCCGTTTCTCAACAATGTAATTATTGATAGAACTTCCACCATCATACTTGGGTGGGCCCCAGGAAAGAGTAATACTATCAGCTGTCACTTCATCCATTTTAACTGGTCCAGTTGGAGGCCCTGGTTTGTCAAGAACGATAACATTAAGGGTTTCAATAGCTTCACCAGCTGAGTTAGTCAGTTTAACCACATAATGGCCAACATCT... | TGTTTTCAGCTGCAATTCTAAACTGATATTCACATCCAGTCTTCAGTCTGCAAGCCTTTATTGTTGTCCTTGCAACTGTAGCTGATACAATTTGCCAGGTGGTTGTGGAAGTGTCCCGTTTCTCAACAATGTAATTATTGATAGAACTTCCACCATCATACTTGGGTGGGCCCCAGGAAAGAGTAATACTATCAGCTGTCACTTCATCCATTTTAACTGGTCCAGTTGGAGGCCCTGGTTTGTCAAGAACGATAACATTAAGGGTTTCAATAGCTTCACCAGCTGAGTTAGTCAGTTTAACCACATAATGGCCAACATCT... | pathogenic | 48,835 |
Is the genetic mutation found on chromosome 2 at position 178573998, 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'] | GTACAGTGAAAGTATTGAACAGGAGTTTGAAGGCTGGTGGAATGACAAGATCTTTGGCGATCACTGGCACACTCAGTTGTCTAGGATCACTGATGCCCTTTTCATTCTGAGCTGAAACACGGAAAGAGTATTCTTCACCCTGAATTAATCCAGTGATAGTGGCTTCAGTGACCTTGACTGTGGCACACGTGGCCCATTTGTCACTGCCTTTGGTCTGCATCTCCACAATGTAGCCTAGAATTCGGCTGCCTCCATCATGCTCTGGTTTCTCCCAAGAGAGTGACACACTATTTCTTGTGACATCCATCAAAGTTATTTTT... | GTACAGTGAAAGTATTGAACAGGAGTTTGAAGGCTGGTGGAATGACAAGATCTTTGGCGATCACTGGCACACTCAGTTGTCTAGGATCACTGATGCCCTTTTCATTCTGAGCTGAAACACGGAAAGAGTATTCTTCACCCTGAATTAATCCAGTGATAGTGGCTTCAGTGACCTTGACTGTGGCACACGTGGCCCATTTGTCACTGCCTTTGGTCTGCATCTCCACAATGTAGCCTAGAATTCGGCTGCCTCCATCATGCTCTGGTTTCTCCCAAGAGAGTGACACACTATTTCTTGTGACATCCATCAAAGTTATTTTT... | pathogenic | 48,845 |
Is the variant located on chromosome 2 at position 178574146, gene TTN, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype', 'Centronuclear_myopathy', 'Primary_dilated_cardiomyopathy'] | TCCAGTGATAGTGGCTTCAGTGACCTTGACTGTGGCACACGTGGCCCATTTGTCACTGCCTTTGGTCTGCATCTCCACAATGTAGCCTAGAATTCGGCTGCCTCCATCATGCTCTGGTTTCTCCCAAGAGAGTGACACACTATTTCTTGTGACATCCATCAAAGTTATTTTTCCTGGAGGAAGAGGTCGTTCTGATGCTTTCACAGATTCTGCGGTTTCAGCAGGCAGCCCAATGCCATATTCATTTTCTGCGAGAACCCTGAAATAGTAGCTACAGCCTTCTTGAAGCTGGTCTACCTTCCAGGAAGTCTTGTGGCAGT... | TCCAGTGATAGTGGCTTCAGTGACCTTGACTGTGGCACACGTGGCCCATTTGTCACTGCCTTTGGTCTGCATCTCCACAATGTAGCCTAGAATTCGGCTGCCTCCATCATGCTCTGGTTTCTCCCAAGAGAGTGACACACTATTTCTTGTGACATCCATCAAAGTTATTTTTCCTGGAGGAAGAGGTCGTTCTGATGCTTTCACAGATTCTGCGGTTTCAGCAGGCAGCCCAATGCCATATTCATTTTCTGCGAGAACCCTGAAATAGTAGCTACAGCCTTCTTGAAGCTGGTCTACCTTCCAGGAAGTCTTGTGGCAGT... | pathogenic | 48,858 |
Located at chromosome 2 position 178574276, the variant affecting gene TTN—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AGTGACACACTATTTCTTGTGACATCCATCAAAGTTATTTTTCCTGGAGGAAGAGGTCGTTCTGATGCTTTCACAGATTCTGCGGTTTCAGCAGGCAGCCCAATGCCATATTCATTTTCTGCGAGAACCCTGAAATAGTAGCTACAGCCTTCTTGAAGCTGGTCTACCTTCCAGGAAGTCTTGTGGCAGTTTGTTGCAACAGTTGAATATGCTTTTCTTGTTGATTCCCGCTTTTCAACAATATAGTTCTTGATTTTTGAACCTCCATCAAGGAGAGGTGGGTCCCATGTGAGTGTGACAGATGTCTTAGTGACCTCTTT... | AGTGACACACTATTTCTTGTGACATCCATCAAAGTTATTTTTCCTGGAGGAAGAGGTCGTTCTGATGCTTTCACAGATTCTGCGGTTTCAGCAGGCAGCCCAATGCCATATTCATTTTCTGCGAGAACCCTGAAATAGTAGCTACAGCCTTCTTGAAGCTGGTCTACCTTCCAGGAAGTCTTGTGGCAGTTTGTTGCAACAGTTGAATATGCTTTTCTTGTTGATTCCCGCTTTTCAACAATATAGTTCTTGATTTTTGAACCTCCATCAAGGAGAGGTGGGTCCCATGTGAGTGTGACAGATGTCTTAGTGACCTCTTT... | pathogenic | 48,865 |
Considering the genetic mutation at chromosome 2, position 178574446, 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'] | CCAGGAAGTCTTGTGGCAGTTTGTTGCAACAGTTGAATATGCTTTTCTTGTTGATTCCCGCTTTTCAACAATATAGTTCTTGATTTTTGAACCTCCATCAAGGAGAGGTGGGTCCCATGTGAGTGTGACAGATGTCTTAGTGACCTCTTTTACCTTCAGATCCTGTGGGGGGCCTGGTGTATCGAGAACTCTAACATTGACAAATGCAGACTTGCTGCCTGAACTATTTTCTACAGTTAGTATATATTTGCCACTGTCAAATCTGTTTACATTTCCAACAATAAGCAGGGTGTAAGAGCTTGTGGATTCGATGCTAGCTT... | CCAGGAAGTCTTGTGGCAGTTTGTTGCAACAGTTGAATATGCTTTTCTTGTTGATTCCCGCTTTTCAACAATATAGTTCTTGATTTTTGAACCTCCATCAAGGAGAGGTGGGTCCCATGTGAGTGTGACAGATGTCTTAGTGACCTCTTTTACCTTCAGATCCTGTGGGGGGCCTGGTGTATCGAGAACTCTAACATTGACAAATGCAGACTTGCTGCCTGAACTATTTTCTACAGTTAGTATATATTTGCCACTGTCAAATCTGTTTACATTTCCAACAATAAGCAGGGTGTAAGAGCTTGTGGATTCGATGCTAGCTT... | pathogenic | 48,871 |
Regarding the variant found on chromosome 2 at position 178574497 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', 'Primary_dilated_cardiomyopathy'] | TGATTCCCGCTTTTCAACAATATAGTTCTTGATTTTTGAACCTCCATCAAGGAGAGGTGGGTCCCATGTGAGTGTGACAGATGTCTTAGTGACCTCTTTTACCTTCAGATCCTGTGGGGGGCCTGGTGTATCGAGAACTCTAACATTGACAAATGCAGACTTGCTGCCTGAACTATTTTCTACAGTTAGTATATATTTGCCACTGTCAAATCTGTTTACATTTCCAACAATAAGCAGGGTGTAAGAGCTTGTGGATTCGATGCTAGCTTTATCTAAAGATTCTCCATGGTCCCGGGCCCACTTCACCTCAGGTGCAGGCC... | TGATTCCCGCTTTTCAACAATATAGTTCTTGATTTTTGAACCTCCATCAAGGAGAGGTGGGTCCCATGTGAGTGTGACAGATGTCTTAGTGACCTCTTTTACCTTCAGATCCTGTGGGGGGCCTGGTGTATCGAGAACTCTAACATTGACAAATGCAGACTTGCTGCCTGAACTATTTTCTACAGTTAGTATATATTTGCCACTGTCAAATCTGTTTACATTTCCAACAATAAGCAGGGTGTAAGAGCTTGTGGATTCGATGCTAGCTTTATCTAAAGATTCTCCATGGTCCCGGGCCCACTTCACCTCAGGTGCAGGCC... | pathogenic | 48,874 |
Determine whether the variant at chromosome 2, position 178574889, 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'] | CCAGTTCAATTTCTGGAGGCAGCATTCTGTCTTCAGCCTTTGGAGTTCCAGGAACAAGGGCAGGTTCCCCAAGTCCTTCGGAATTCATGGCATAGATGCGGATCTTATATTCCTGATTCTCTGTGAGGCCAGTGATAGTATACGAAGTTGCCTTGAGTCCTGCTGGTGGAGTGACAATCTGCCATTCATCTTCCTCTGGCAGGGCAATCTCAACCATATACCCAGTGATTTCTGAACCACCATCATAGATAGGTTTATTCCAAGCGATTGAAATGGATGATCTGCTTGTATCCAGAACACGTGGGTTACCTGGTGGTCCA... | CCAGTTCAATTTCTGGAGGCAGCATTCTGTCTTCAGCCTTTGGAGTTCCAGGAACAAGGGCAGGTTCCCCAAGTCCTTCGGAATTCATGGCATAGATGCGGATCTTATATTCCTGATTCTCTGTGAGGCCAGTGATAGTATACGAAGTTGCCTTGAGTCCTGCTGGTGGAGTGACAATCTGCCATTCATCTTCCTCTGGCAGGGCAATCTCAACCATATACCCAGTGATTTCTGAACCACCATCATAGATAGGTTTATTCCAAGCGATTGAAATGGATGATCTGCTTGTATCCAGAACACGTGGGTTACCTGGTGGTCCA... | pathogenic | 48,890 |
Gene TTN variant at chromosome 2, position 178574929—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiomyopathy'] | TGGAGTTCCAGGAACAAGGGCAGGTTCCCCAAGTCCTTCGGAATTCATGGCATAGATGCGGATCTTATATTCCTGATTCTCTGTGAGGCCAGTGATAGTATACGAAGTTGCCTTGAGTCCTGCTGGTGGAGTGACAATCTGCCATTCATCTTCCTCTGGCAGGGCAATCTCAACCATATACCCAGTGATTTCTGAACCACCATCATAGATAGGTTTATTCCAAGCGATTGAAATGGATGATCTGCTTGTATCCAGAACACGTGGGTTACCTGGTGGTCCAGGTTTAAACACAGTGTCACAAGCCTTGTAAAATGGACTGG... | TGGAGTTCCAGGAACAAGGGCAGGTTCCCCAAGTCCTTCGGAATTCATGGCATAGATGCGGATCTTATATTCCTGATTCTCTGTGAGGCCAGTGATAGTATACGAAGTTGCCTTGAGTCCTGCTGGTGGAGTGACAATCTGCCATTCATCTTCCTCTGGCAGGGCAATCTCAACCATATACCCAGTGATTTCTGAACCACCATCATAGATAGGTTTATTCCAAGCGATTGAAATGGATGATCTGCTTGTATCCAGAACACGTGGGTTACCTGGTGGTCCAGGTTTAAACACAGTGTCACAAGCCTTGTAAAATGGACTGG... | pathogenic | 48,891 |
A genetic variant at chromosome 2, position 178575104, 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'] | ATATACCCAGTGATTTCTGAACCACCATCATAGATAGGTTTATTCCAAGCGATTGAAATGGATGATCTGCTTGTATCCAGAACACGTGGGTTACCTGGTGGTCCAGGTTTAAACACAGTGTCACAAGCCTTGTAAAATGGACTGGTAGGACTTGGTGCACTAATTCCAGCAGCATTTTCAGCCATAATCCTGAACTCATATTCATGTCCTTCTGTCAGTCCAGACACTTTATATCTTAAATCAGTAAGAGTTTTTTTGTTGCATTTAATCCAGCGTTGGCCAGCTTTATCACGCCGTTCCACAATATAATTGATGATTTC... | ATATACCCAGTGATTTCTGAACCACCATCATAGATAGGTTTATTCCAAGCGATTGAAATGGATGATCTGCTTGTATCCAGAACACGTGGGTTACCTGGTGGTCCAGGTTTAAACACAGTGTCACAAGCCTTGTAAAATGGACTGGTAGGACTTGGTGCACTAATTCCAGCAGCATTTTCAGCCATAATCCTGAACTCATATTCATGTCCTTCTGTCAGTCCAGACACTTTATATCTTAAATCAGTAAGAGTTTTTTTGTTGCATTTAATCCAGCGTTGGCCAGCTTTATCACGCCGTTCCACAATATAATTGATGATTTC... | pathogenic | 48,894 |
Variant at chromosome 2, position 178575213, 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', 'Primary_dilated_cardiomyopathy', 'TTN-related_disorder'] | TAAACACAGTGTCACAAGCCTTGTAAAATGGACTGGTAGGACTTGGTGCACTAATTCCAGCAGCATTTTCAGCCATAATCCTGAACTCATATTCATGTCCTTCTGTCAGTCCAGACACTTTATATCTTAAATCAGTAAGAGTTTTTTTGTTGCATTTAATCCAGCGTTGGCCAGCTTTATCACGCCGTTCCACAATATAATTGATGATTTCACTTCCACCATCAGAATCAGGATGTCCCCAGCAGACAACCATCGAATCTTTAGTAATAGTTGTCACTTCAGGGTTTTTGGGCGGATCAGGGGGTCCATAAGGATTCACT... | TAAACACAGTGTCACAAGCCTTGTAAAATGGACTGGTAGGACTTGGTGCACTAATTCCAGCAGCATTTTCAGCCATAATCCTGAACTCATATTCATGTCCTTCTGTCAGTCCAGACACTTTATATCTTAAATCAGTAAGAGTTTTTTTGTTGCATTTAATCCAGCGTTGGCCAGCTTTATCACGCCGTTCCACAATATAATTGATGATTTCACTTCCACCATCAGAATCAGGATGTCCCCAGCAGACAACCATCGAATCTTTAGTAATAGTTGTCACTTCAGGGTTTTTGGGCGGATCAGGGGGTCCATAAGGATTCACT... | pathogenic | 48,899 |
Mutation found at chromosome 2 position 178575386, gene TTN: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G'] | GCTTTATCACGCCGTTCCACAATATAATTGATGATTTCACTTCCACCATCAGAATCAGGATGTCCCCAGCAGACAACCATCGAATCTTTAGTAATAGTTGTCACTTCAGGGTTTTTGGGCGGATCAGGGGGTCCATAAGGATTCACTGCAAGCACAGGCTCTGATTCCAGTGGCTCTCCCACTCCATATTTATTTACAGCCATGACACGGAATATGTATTCATTGCCTTTCAAGAGTTTAGTGACCTTTAGCTTTGTTACTTGGACTTCTGAGGCTACATTTGTCCATGCCAATCTGCTGGTTTCACGTTTCTGTACTAT... | GCTTTATCACGCCGTTCCACAATATAATTGATGATTTCACTTCCACCATCAGAATCAGGATGTCCCCAGCAGACAACCATCGAATCTTTAGTAATAGTTGTCACTTCAGGGTTTTTGGGCGGATCAGGGGGTCCATAAGGATTCACTGCAAGCACAGGCTCTGATTCCAGTGGCTCTCCCACTCCATATTTATTTACAGCCATGACACGGAATATGTATTCATTGCCTTTCAAGAGTTTAGTGACCTTTAGCTTTGTTACTTGGACTTCTGAGGCTACATTTGTCCATGCCAATCTGCTGGTTTCACGTTTCTGTACTAT... | pathogenic | 48,912 |
Mutation at chromosome 2, position 178575559, 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'] | CTCTCCCACTCCATATTTATTTACAGCCATGACACGGAATATGTATTCATTGCCTTTCAAGAGTTTAGTGACCTTTAGCTTTGTTACTTGGACTTCTGAGGCTACATTTGTCCATGCCAATCTGCTGGTTTCACGTTTCTGTACTATGTAATGATCAATTTTGGCACCTCCATCATCCAGTGGAGGGAACCATGATAGTACACACTTTTCTGATGTCACTTCAGTTACAGCCAAAGGTCCTTCAGGTGGGCCTGGTCTGTCAAGAACTTTGACATTGAAAATGTGTTTAGCAAAGCCACCAGGATTAGTCGCTGTAAGGG... | CTCTCCCACTCCATATTTATTTACAGCCATGACACGGAATATGTATTCATTGCCTTTCAAGAGTTTAGTGACCTTTAGCTTTGTTACTTGGACTTCTGAGGCTACATTTGTCCATGCCAATCTGCTGGTTTCACGTTTCTGTACTATGTAATGATCAATTTTGGCACCTCCATCATCCAGTGGAGGGAACCATGATAGTACACACTTTTCTGATGTCACTTCAGTTACAGCCAAAGGTCCTTCAGGTGGGCCTGGTCTGTCAAGAACTTTGACATTGAAAATGTGTTTAGCAAAGCCACCAGGATTAGTCGCTGTAAGGG... | pathogenic | 48,924 |
Does the genetic variant at chromosome 2, position 178575909, 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'] | CTTTGTTTACCAGATTAGTAGAGAAATCTGCAATTTTTATTTCTAACTTTGCTGTGCCTTCCAGCTCTTTTCCATCTTTGCTCCATTCCATTGTTGGAGGTGGGCGGCCTGAAACATCAGCTTCCAGTCTGAATGCTTCACCTGCTTTTAATATAACCGTGTCCTTAAATTTAACATCCACCTTTATCTTTGGTGCCTCAACATCATCCCTGCAAGTGATAGCATCAGATGGCTCAGATGGTGGACTGATGGCACCTGCAGCATTTTTGGCGATCACACGGAATTCATATGCAGCATCTTCTGTTAGGCCACTGACTGTA... | CTTTGTTTACCAGATTAGTAGAGAAATCTGCAATTTTTATTTCTAACTTTGCTGTGCCTTCCAGCTCTTTTCCATCTTTGCTCCATTCCATTGTTGGAGGTGGGCGGCCTGAAACATCAGCTTCCAGTCTGAATGCTTCACCTGCTTTTAATATAACCGTGTCCTTAAATTTAACATCCACCTTTATCTTTGGTGCCTCAACATCATCCCTGCAAGTGATAGCATCAGATGGCTCAGATGGTGGACTGATGGCACCTGCAGCATTTTTGGCGATCACACGGAATTCATATGCAGCATCTTCTGTTAGGCCACTGACTGTA... | pathogenic | 48,949 |
Is the chromosome 2, position 178576116 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'] | CCCTGCAAGTGATAGCATCAGATGGCTCAGATGGTGGACTGATGGCACCTGCAGCATTTTTGGCGATCACACGGAATTCATATGCAGCATCTTCTGTTAGGCCACTGACTGTAAATTCATTCTCCAAAATGTTGCTGAAGTTGGCCTTCAGCCACCGTCCATTAGGAAGGTCTCTCTTTTCAACGATATAACTGGTAATTTTAAAGCCCCCAGTATATTCAGGCTTAGCCCATTTAAGTGTTACTGTGTGTCTTGTAATATTTAGAGGTACTGGTTTTCCAGGTGGGTCAATGGGATCCAGAGCCAACATAGGTTCTGAT... | CCCTGCAAGTGATAGCATCAGATGGCTCAGATGGTGGACTGATGGCACCTGCAGCATTTTTGGCGATCACACGGAATTCATATGCAGCATCTTCTGTTAGGCCACTGACTGTAAATTCATTCTCCAAAATGTTGCTGAAGTTGGCCTTCAGCCACCGTCCATTAGGAAGGTCTCTCTTTTCAACGATATAACTGGTAATTTTAAAGCCCCCAGTATATTCAGGCTTAGCCCATTTAAGTGTTACTGTGTGTCTTGTAATATTTAGAGGTACTGGTTTTCCAGGTGGGTCAATGGGATCCAGAGCCAACATAGGTTCTGAT... | pathogenic | 48,959 |
A genetic variant on chromosome 2, position 178576131, affects the gene TTN. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiovascular_phenotype'] | CATCAGATGGCTCAGATGGTGGACTGATGGCACCTGCAGCATTTTTGGCGATCACACGGAATTCATATGCAGCATCTTCTGTTAGGCCACTGACTGTAAATTCATTCTCCAAAATGTTGCTGAAGTTGGCCTTCAGCCACCGTCCATTAGGAAGGTCTCTCTTTTCAACGATATAACTGGTAATTTTAAAGCCCCCAGTATATTCAGGCTTAGCCCATTTAAGTGTTACTGTGTGTCTTGTAATATTTAGAGGTACTGGTTTTCCAGGTGGGTCAATGGGATCCAGAGCCAACATAGGTTCTGATGGCTTGCTTGGCTTA... | CATCAGATGGCTCAGATGGTGGACTGATGGCACCTGCAGCATTTTTGGCGATCACACGGAATTCATATGCAGCATCTTCTGTTAGGCCACTGACTGTAAATTCATTCTCCAAAATGTTGCTGAAGTTGGCCTTCAGCCACCGTCCATTAGGAAGGTCTCTCTTTTCAACGATATAACTGGTAATTTTAAAGCCCCCAGTATATTCAGGCTTAGCCCATTTAAGTGTTACTGTGTGTCTTGTAATATTTAGAGGTACTGGTTTTCCAGGTGGGTCAATGGGATCCAGAGCCAACATAGGTTCTGATGGCTTGCTTGGCTTA... | pathogenic | 48,961 |
Evaluate if the mutation on chromosome 2 at position 178576132 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'] | ATCAGATGGCTCAGATGGTGGACTGATGGCACCTGCAGCATTTTTGGCGATCACACGGAATTCATATGCAGCATCTTCTGTTAGGCCACTGACTGTAAATTCATTCTCCAAAATGTTGCTGAAGTTGGCCTTCAGCCACCGTCCATTAGGAAGGTCTCTCTTTTCAACGATATAACTGGTAATTTTAAAGCCCCCAGTATATTCAGGCTTAGCCCATTTAAGTGTTACTGTGTGTCTTGTAATATTTAGAGGTACTGGTTTTCCAGGTGGGTCAATGGGATCCAGAGCCAACATAGGTTCTGATGGCTTGCTTGGCTTAC... | ATCAGATGGCTCAGATGGTGGACTGATGGCACCTGCAGCATTTTTGGCGATCACACGGAATTCATATGCAGCATCTTCTGTTAGGCCACTGACTGTAAATTCATTCTCCAAAATGTTGCTGAAGTTGGCCTTCAGCCACCGTCCATTAGGAAGGTCTCTCTTTTCAACGATATAACTGGTAATTTTAAAGCCCCCAGTATATTCAGGCTTAGCCCATTTAAGTGTTACTGTGTGTCTTGTAATATTTAGAGGTACTGGTTTTCCAGGTGGGTCAATGGGATCCAGAGCCAACATAGGTTCTGATGGCTTGCTTGGCTTAC... | pathogenic | 48,962 |
Variant chromosome 2, position 178576205, gene TTN: benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TCTTCTGTTAGGCCACTGACTGTAAATTCATTCTCCAAAATGTTGCTGAAGTTGGCCTTCAGCCACCGTCCATTAGGAAGGTCTCTCTTTTCAACGATATAACTGGTAATTTTAAAGCCCCCAGTATATTCAGGCTTAGCCCATTTAAGTGTTACTGTGTGTCTTGTAATATTTAGAGGTACTGGTTTTCCAGGTGGGTCAATGGGATCCAGAGCCAACATAGGTTCTGATGGCTTGCTTGGCTTACTTTTGCCTGCCATGTTTTCTGCAATCACCCGGAACTCATAAGCAATACCATCTGTAAGTCCACTTGATTTGAA... | TCTTCTGTTAGGCCACTGACTGTAAATTCATTCTCCAAAATGTTGCTGAAGTTGGCCTTCAGCCACCGTCCATTAGGAAGGTCTCTCTTTTCAACGATATAACTGGTAATTTTAAAGCCCCCAGTATATTCAGGCTTAGCCCATTTAAGTGTTACTGTGTGTCTTGTAATATTTAGAGGTACTGGTTTTCCAGGTGGGTCAATGGGATCCAGAGCCAACATAGGTTCTGATGGCTTGCTTGGCTTACTTTTGCCTGCCATGTTTTCTGCAATCACCCGGAACTCATAAGCAATACCATCTGTAAGTCCACTTGATTTGAA... | pathogenic | 48,965 |
Does the variant on chromosome 2 at location 178576651 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'] | CATTGAATCCTTGGTAACTGCAGTTACCTGAGGGGTACCAGGAGGTCCAGGAACCTTAAATGGATAGTTGGCAACTATGCATGCTGATGTGATGCCTGGTCCAACTCCATATCTATTCTGAGCTTTTACACGGAACTGATACTCTAATCCAGTAGTAAGGCGGGTGGCTTTATAGGTAGTACGTATAACGGTGGTTGCTAACTCAACCCAGGTAGTACTGTCAGTCTGCCGCATTTCCACTACATAGTTGCTTATTGGTACACCACCATCGTTCTCAGGTGGGTCCCAAGAGAAGGTTACAAAATCAGATGAAACTTCAT... | CATTGAATCCTTGGTAACTGCAGTTACCTGAGGGGTACCAGGAGGTCCAGGAACCTTAAATGGATAGTTGGCAACTATGCATGCTGATGTGATGCCTGGTCCAACTCCATATCTATTCTGAGCTTTTACACGGAACTGATACTCTAATCCAGTAGTAAGGCGGGTGGCTTTATAGGTAGTACGTATAACGGTGGTTGCTAACTCAACCCAGGTAGTACTGTCAGTCTGCCGCATTTCCACTACATAGTTGCTTATTGGTACACCACCATCGTTCTCAGGTGGGTCCCAAGAGAAGGTTACAAAATCAGATGAAACTTCAT... | pathogenic | 48,983 |
Is the genetic change at chromosome 2, position 178576751, within gene TTN benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | CCAACTCCATATCTATTCTGAGCTTTTACACGGAACTGATACTCTAATCCAGTAGTAAGGCGGGTGGCTTTATAGGTAGTACGTATAACGGTGGTTGCTAACTCAACCCAGGTAGTACTGTCAGTCTGCCGCATTTCCACTACATAGTTGCTTATTGGTACACCACCATCGTTCTCAGGTGGGTCCCAAGAGAAGGTTACAAAATCAGATGAAACTTCATCAAATTTGATTGGTCCAGTAGGTGGCCCTGGGATATCATGGACTTGAATGGTGATGACATCACCAACCTCTCCTACAATGTTCCTTGCTGTTAATGGATA... | CCAACTCCATATCTATTCTGAGCTTTTACACGGAACTGATACTCTAATCCAGTAGTAAGGCGGGTGGCTTTATAGGTAGTACGTATAACGGTGGTTGCTAACTCAACCCAGGTAGTACTGTCAGTCTGCCGCATTTCCACTACATAGTTGCTTATTGGTACACCACCATCGTTCTCAGGTGGGTCCCAAGAGAAGGTTACAAAATCAGATGAAACTTCATCAAATTTGATTGGTCCAGTAGGTGGCCCTGGGATATCATGGACTTGAATGGTGATGACATCACCAACCTCTCCTACAATGTTCCTTGCTGTTAATGGATA... | pathogenic | 48,989 |
Chromosome 2, position 178576782, gene TTN: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Primary_dilated_cardiomyopathy'] | GGAACTGATACTCTAATCCAGTAGTAAGGCGGGTGGCTTTATAGGTAGTACGTATAACGGTGGTTGCTAACTCAACCCAGGTAGTACTGTCAGTCTGCCGCATTTCCACTACATAGTTGCTTATTGGTACACCACCATCGTTCTCAGGTGGGTCCCAAGAGAAGGTTACAAAATCAGATGAAACTTCATCAAATTTGATTGGTCCAGTAGGTGGCCCTGGGATATCATGGACTTGAATGGTGATGACATCACCAACCTCTCCTACAATGTTCCTTGCTGTTAATGGATAGGGCCCACTATCACTTCTGACACACTCATTG... | GGAACTGATACTCTAATCCAGTAGTAAGGCGGGTGGCTTTATAGGTAGTACGTATAACGGTGGTTGCTAACTCAACCCAGGTAGTACTGTCAGTCTGCCGCATTTCCACTACATAGTTGCTTATTGGTACACCACCATCGTTCTCAGGTGGGTCCCAAGAGAAGGTTACAAAATCAGATGAAACTTCATCAAATTTGATTGGTCCAGTAGGTGGCCCTGGGATATCATGGACTTGAATGGTGATGACATCACCAACCTCTCCTACAATGTTCCTTGCTGTTAATGGATAGGGCCCACTATCACTTCTGACACACTCATTG... | pathogenic | 48,990 |
Clinical classification of chromosome 2, position 178576818, gene TTN: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CTTTATAGGTAGTACGTATAACGGTGGTTGCTAACTCAACCCAGGTAGTACTGTCAGTCTGCCGCATTTCCACTACATAGTTGCTTATTGGTACACCACCATCGTTCTCAGGTGGGTCCCAAGAGAAGGTTACAAAATCAGATGAAACTTCATCAAATTTGATTGGTCCAGTAGGTGGCCCTGGGATATCATGGACTTGAATGGTGATGACATCACCAACCTCTCCTACAATGTTCCTTGCTGTTAATGGATAGGGCCCACTATCACTTCTGACACACTCATTGATATTTAAAATGGTTGAAGTCGCTGTGGTTTCAAAA... | CTTTATAGGTAGTACGTATAACGGTGGTTGCTAACTCAACCCAGGTAGTACTGTCAGTCTGCCGCATTTCCACTACATAGTTGCTTATTGGTACACCACCATCGTTCTCAGGTGGGTCCCAAGAGAAGGTTACAAAATCAGATGAAACTTCATCAAATTTGATTGGTCCAGTAGGTGGCCCTGGGATATCATGGACTTGAATGGTGATGACATCACCAACCTCTCCTACAATGTTCCTTGCTGTTAATGGATAGGGCCCACTATCACTTCTGACACACTCATTGATATTTAAAATGGTTGAAGTCGCTGTGGTTTCAAAA... | pathogenic | 48,993 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 178576822, 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', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure'] | ATAGGTAGTACGTATAACGGTGGTTGCTAACTCAACCCAGGTAGTACTGTCAGTCTGCCGCATTTCCACTACATAGTTGCTTATTGGTACACCACCATCGTTCTCAGGTGGGTCCCAAGAGAAGGTTACAAAATCAGATGAAACTTCATCAAATTTGATTGGTCCAGTAGGTGGCCCTGGGATATCATGGACTTGAATGGTGATGACATCACCAACCTCTCCTACAATGTTCCTTGCTGTTAATGGATAGGGCCCACTATCACTTCTGACACACTCATTGATATTTAAAATGGTTGAAGTCGCTGTGGTTTCAAAATTAA... | ATAGGTAGTACGTATAACGGTGGTTGCTAACTCAACCCAGGTAGTACTGTCAGTCTGCCGCATTTCCACTACATAGTTGCTTATTGGTACACCACCATCGTTCTCAGGTGGGTCCCAAGAGAAGGTTACAAAATCAGATGAAACTTCATCAAATTTGATTGGTCCAGTAGGTGGCCCTGGGATATCATGGACTTGAATGGTGATGACATCACCAACCTCTCCTACAATGTTCCTTGCTGTTAATGGATAGGGCCCACTATCACTTCTGACACACTCATTGATATTTAAAATGGTTGAAGTCGCTGTGGTTTCAAAATTAA... | pathogenic | 48,995 |
Does the variant impacting TTN on chromosome 2, position 178576823, 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', 'Hypertrophic_cardiomyopathy_9'] | TAGGTAGTACGTATAACGGTGGTTGCTAACTCAACCCAGGTAGTACTGTCAGTCTGCCGCATTTCCACTACATAGTTGCTTATTGGTACACCACCATCGTTCTCAGGTGGGTCCCAAGAGAAGGTTACAAAATCAGATGAAACTTCATCAAATTTGATTGGTCCAGTAGGTGGCCCTGGGATATCATGGACTTGAATGGTGATGACATCACCAACCTCTCCTACAATGTTCCTTGCTGTTAATGGATAGGGCCCACTATCACTTCTGACACACTCATTGATATTTAAAATGGTTGAAGTCGCTGTGGTTTCAAAATTAAC... | TAGGTAGTACGTATAACGGTGGTTGCTAACTCAACCCAGGTAGTACTGTCAGTCTGCCGCATTTCCACTACATAGTTGCTTATTGGTACACCACCATCGTTCTCAGGTGGGTCCCAAGAGAAGGTTACAAAATCAGATGAAACTTCATCAAATTTGATTGGTCCAGTAGGTGGCCCTGGGATATCATGGACTTGAATGGTGATGACATCACCAACCTCTCCTACAATGTTCCTTGCTGTTAATGGATAGGGCCCACTATCACTTCTGACACACTCATTGATATTTAAAATGGTTGAAGTCGCTGTGGTTTCAAAATTAAC... | pathogenic | 48,996 |
Is the genetic mutation found on chromosome 2 at position 178577077, within the gene TTN, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | ACTATCACTTCTGACACACTCATTGATATTTAAAATGGTTGAAGTCGCTGTGGTTTCAAAATTAACTCTCTGTGTCTGTTTAAGAATTTGGTCTCCTTTTTTCCATGTCACTGTGGGCTTCGGTCGACCGAGCACTGGAATTTCAACTTTGATGTTGTCACCAGCTTTGGCAATGACCAGTTTCTGATAGATGCCACGGAGATCCAGCTCTGGAAGCATTGTCTGCTCCTTGACAATGACGGGTCTGCTTTCTCTAGGGGCACTTCTCCCCGCGCTGTTCACTGCCATCACTTGGAAGGTATATTCCTCTCCTTCAGTTA... | ACTATCACTTCTGACACACTCATTGATATTTAAAATGGTTGAAGTCGCTGTGGTTTCAAAATTAACTCTCTGTGTCTGTTTAAGAATTTGGTCTCCTTTTTTCCATGTCACTGTGGGCTTCGGTCGACCGAGCACTGGAATTTCAACTTTGATGTTGTCACCAGCTTTGGCAATGACCAGTTTCTGATAGATGCCACGGAGATCCAGCTCTGGAAGCATTGTCTGCTCCTTGACAATGACGGGTCTGCTTTCTCTAGGGGCACTTCTCCCCGCGCTGTTCACTGCCATCACTTGGAAGGTATATTCCTCTCCTTCAGTTA... | pathogenic | 49,008 |
Evaluate this variant at chromosome 2, position 178577121, gene TTN: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiovascular_phenotype'] | TCGCTGTGGTTTCAAAATTAACTCTCTGTGTCTGTTTAAGAATTTGGTCTCCTTTTTTCCATGTCACTGTGGGCTTCGGTCGACCGAGCACTGGAATTTCAACTTTGATGTTGTCACCAGCTTTGGCAATGACCAGTTTCTGATAGATGCCACGGAGATCCAGCTCTGGAAGCATTGTCTGCTCCTTGACAATGACGGGTCTGCTTTCTCTAGGGGCACTTCTCCCCGCGCTGTTCACTGCCATCACTTGGAAGGTATATTCCTCTCCTTCAGTTAGATTCCTCACAACACATTCTAACCCTTTCACGGTTGTGATGTGG... | TCGCTGTGGTTTCAAAATTAACTCTCTGTGTCTGTTTAAGAATTTGGTCTCCTTTTTTCCATGTCACTGTGGGCTTCGGTCGACCGAGCACTGGAATTTCAACTTTGATGTTGTCACCAGCTTTGGCAATGACCAGTTTCTGATAGATGCCACGGAGATCCAGCTCTGGAAGCATTGTCTGCTCCTTGACAATGACGGGTCTGCTTTCTCTAGGGGCACTTCTCCCCGCGCTGTTCACTGCCATCACTTGGAAGGTATATTCCTCTCCTTCAGTTAGATTCCTCACAACACATTCTAACCCTTTCACGGTTGTGATGTGG... | pathogenic | 49,011 |
A mutation at chromosome position 178577203 on chromosome 2 in gene TTN: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | ACCGAGCACTGGAATTTCAACTTTGATGTTGTCACCAGCTTTGGCAATGACCAGTTTCTGATAGATGCCACGGAGATCCAGCTCTGGAAGCATTGTCTGCTCCTTGACAATGACGGGTCTGCTTTCTCTAGGGGCACTTCTCCCCGCGCTGTTCACTGCCATCACTTGGAAGGTATATTCCTCTCCTTCAGTTAGATTCCTCACAACACATTCTAACCCTTTCACGGTTGTGATGTGGGTCCACTGGTCAGAGCCTTTTCTTTGGGCTTCAATCACATAGCCAGTGATCTTGCTGCCACCATCGTGTTTGGGCTTAGGCC... | ACCGAGCACTGGAATTTCAACTTTGATGTTGTCACCAGCTTTGGCAATGACCAGTTTCTGATAGATGCCACGGAGATCCAGCTCTGGAAGCATTGTCTGCTCCTTGACAATGACGGGTCTGCTTTCTCTAGGGGCACTTCTCCCCGCGCTGTTCACTGCCATCACTTGGAAGGTATATTCCTCTCCTTCAGTTAGATTCCTCACAACACATTCTAACCCTTTCACGGTTGTGATGTGGGTCCACTGGTCAGAGCCTTTTCTTTGGGCTTCAATCACATAGCCAGTGATCTTGCTGCCACCATCGTGTTTGGGCTTAGGCC... | pathogenic | 49,023 |
Classify the chromosome 2 variant at position 178577230 affecting gene TTN as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G'] | GTTGTCACCAGCTTTGGCAATGACCAGTTTCTGATAGATGCCACGGAGATCCAGCTCTGGAAGCATTGTCTGCTCCTTGACAATGACGGGTCTGCTTTCTCTAGGGGCACTTCTCCCCGCGCTGTTCACTGCCATCACTTGGAAGGTATATTCCTCTCCTTCAGTTAGATTCCTCACAACACATTCTAACCCTTTCACGGTTGTGATGTGGGTCCACTGGTCAGAGCCTTTTCTTTGGGCTTCAATCACATAGCCAGTGATCTTGCTGCCACCATCGTGTTTGGGCTTAGGCCATGCCAGGCTGACGGTGCTCTTAGTTA... | GTTGTCACCAGCTTTGGCAATGACCAGTTTCTGATAGATGCCACGGAGATCCAGCTCTGGAAGCATTGTCTGCTCCTTGACAATGACGGGTCTGCTTTCTCTAGGGGCACTTCTCCCCGCGCTGTTCACTGCCATCACTTGGAAGGTATATTCCTCTCCTTCAGTTAGATTCCTCACAACACATTCTAACCCTTTCACGGTTGTGATGTGGGTCCACTGGTCAGAGCCTTTTCTTTGGGCTTCAATCACATAGCCAGTGATCTTGCTGCCACCATCGTGTTTGGGCTTAGGCCATGCCAGGCTGACGGTGCTCTTAGTTA... | pathogenic | 49,026 |
Variant in gene TTN, located at chromosome 2 position 178577339: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CTTCTCCCCGCGCTGTTCACTGCCATCACTTGGAAGGTATATTCCTCTCCTTCAGTTAGATTCCTCACAACACATTCTAACCCTTTCACGGTTGTGATGTGGGTCCACTGGTCAGAGCCTTTTCTTTGGGCTTCAATCACATAGCCAGTGATCTTGCTGCCACCATCGTGTTTGGGCTTAGGCCATGCCAGGCTGACGGTGCTCTTAGTTATGTCCATGATGTTAAGGCTGTCTGGTGGAGATGGTGCTTCAGAGGCTTTTACGGGCTCTGTAGTTTCTGTTGGCTCACCAATTCCATATTCATTCTCTGCCATCACTCT... | CTTCTCCCCGCGCTGTTCACTGCCATCACTTGGAAGGTATATTCCTCTCCTTCAGTTAGATTCCTCACAACACATTCTAACCCTTTCACGGTTGTGATGTGGGTCCACTGGTCAGAGCCTTTTCTTTGGGCTTCAATCACATAGCCAGTGATCTTGCTGCCACCATCGTGTTTGGGCTTAGGCCATGCCAGGCTGACGGTGCTCTTAGTTATGTCCATGATGTTAAGGCTGTCTGGTGGAGATGGTGCTTCAGAGGCTTTTACGGGCTCTGTAGTTTCTGTTGGCTCACCAATTCCATATTCATTCTCTGCCATCACTCT... | pathogenic | 49,031 |
Is the genetic mutation found on chromosome 2 at position 178577446, 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'] | CTGGTCAGAGCCTTTTCTTTGGGCTTCAATCACATAGCCAGTGATCTTGCTGCCACCATCGTGTTTGGGCTTAGGCCATGCCAGGCTGACGGTGCTCTTAGTTATGTCCATGATGTTAAGGCTGTCTGGTGGAGATGGTGCTTCAGAGGCTTTTACGGGCTCTGTAGTTTCTGTTGGCTCACCAATTCCATATTCATTCTCTGCCATCACTCTGAAGAAATATTCACACCCTTCAGACAAGCCGGTAACTTTATATGTGCATTTATGGCACTTAGTGGTGGCTGTGGAATAAGATTTCCGTGTTGCTTCACGTTTCTCTA... | CTGGTCAGAGCCTTTTCTTTGGGCTTCAATCACATAGCCAGTGATCTTGCTGCCACCATCGTGTTTGGGCTTAGGCCATGCCAGGCTGACGGTGCTCTTAGTTATGTCCATGATGTTAAGGCTGTCTGGTGGAGATGGTGCTTCAGAGGCTTTTACGGGCTCTGTAGTTTCTGTTGGCTCACCAATTCCATATTCATTCTCTGCCATCACTCTGAAGAAATATTCACACCCTTCAGACAAGCCGGTAACTTTATATGTGCATTTATGGCACTTAGTGGTGGCTGTGGAATAAGATTTCCGTGTTGCTTCACGTTTCTCTA... | pathogenic | 49,033 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 178577975, gene TTN: what disease(s) if pathogenic? | benign | ATAATCAGAAGAGTAAATGATTCCGTATTTTCAATGTTGGCTCGGTTTTTCAGGTTGATGTTATCTTTGGTCCATGTCACTTCAGGAGCAGGACGACCTTTAATTGGCACAAATATCCTAATACTGAGTCCTGCTCTAACAACAAGTGTTCTTCGAAGCTCGGCATCTAGTTCAAAATCAGGAGCCATCTCCCGTTCTACGATTTCAACATCTGGAATCACCGCTGGCTCCCCAACACCTGCATCGTTGATGGCACTGATTCTGAAGTTGTATTTTTCTTTAGTCTGAAGATCAGGAACAACGAACTGAGTGATTCTGAG... | ATAATCAGAAGAGTAAATGATTCCGTATTTTCAATGTTGGCTCGGTTTTTCAGGTTGATGTTATCTTTGGTCCATGTCACTTCAGGAGCAGGACGACCTTTAATTGGCACAAATATCCTAATACTGAGTCCTGCTCTAACAACAAGTGTTCTTCGAAGCTCGGCATCTAGTTCAAAATCAGGAGCCATCTCCCGTTCTACGATTTCAACATCTGGAATCACCGCTGGCTCCCCAACACCTGCATCGTTGATGGCACTGATTCTGAAGTTGTATTTTTCTTTAGTCTGAAGATCAGGAACAACGAACTGAGTGATTCTGAG... | benign | 49,050 |
Located at chromosome 2 position 178578006, the variant affecting gene TTN—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CAATGTTGGCTCGGTTTTTCAGGTTGATGTTATCTTTGGTCCATGTCACTTCAGGAGCAGGACGACCTTTAATTGGCACAAATATCCTAATACTGAGTCCTGCTCTAACAACAAGTGTTCTTCGAAGCTCGGCATCTAGTTCAAAATCAGGAGCCATCTCCCGTTCTACGATTTCAACATCTGGAATCACCGCTGGCTCCCCAACACCTGCATCGTTGATGGCACTGATTCTGAAGTTGTATTTTTCTTTAGTCTGAAGATCAGGAACAACGAACTGAGTGATTCTGAGGGCGGTTCCTGTGGTATCTTTTATCCAGGCC... | CAATGTTGGCTCGGTTTTTCAGGTTGATGTTATCTTTGGTCCATGTCACTTCAGGAGCAGGACGACCTTTAATTGGCACAAATATCCTAATACTGAGTCCTGCTCTAACAACAAGTGTTCTTCGAAGCTCGGCATCTAGTTCAAAATCAGGAGCCATCTCCCGTTCTACGATTTCAACATCTGGAATCACCGCTGGCTCCCCAACACCTGCATCGTTGATGGCACTGATTCTGAAGTTGTATTTTTCTTTAGTCTGAAGATCAGGAACAACGAACTGAGTGATTCTGAGGGCGGTTCCTGTGGTATCTTTTATCCAGGCC... | pathogenic | 49,052 |
Classify the chromosome 2 variant at position 178578087 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'] | ATATCCTAATACTGAGTCCTGCTCTAACAACAAGTGTTCTTCGAAGCTCGGCATCTAGTTCAAAATCAGGAGCCATCTCCCGTTCTACGATTTCAACATCTGGAATCACCGCTGGCTCCCCAACACCTGCATCGTTGATGGCACTGATTCTGAAGTTGTATTTTTCTTTAGTCTGAAGATCAGGAACAACGAACTGAGTGATTCTGAGGGCGGTTCCTGTGGTATCTTTTATCCAGGCCTCGTCTCCTACTTTTTGATGCTCCACGACATAGCCAGTGATTTCAAGTCCACCATCATAATGAGGCTTGCCCCATGCCAAA... | ATATCCTAATACTGAGTCCTGCTCTAACAACAAGTGTTCTTCGAAGCTCGGCATCTAGTTCAAAATCAGGAGCCATCTCCCGTTCTACGATTTCAACATCTGGAATCACCGCTGGCTCCCCAACACCTGCATCGTTGATGGCACTGATTCTGAAGTTGTATTTTTCTTTAGTCTGAAGATCAGGAACAACGAACTGAGTGATTCTGAGGGCGGTTCCTGTGGTATCTTTTATCCAGGCCTCGTCTCCTACTTTTTGATGCTCCACGACATAGCCAGTGATTTCAAGTCCACCATCATAATGAGGCTTGCCCCATGCCAAA... | pathogenic | 49,057 |
Clinical significance of chromosome 2, position 178578157, gene TTN: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiomyopathy', 'Primary_dilated_cardiomyopathy'] | AGCCATCTCCCGTTCTACGATTTCAACATCTGGAATCACCGCTGGCTCCCCAACACCTGCATCGTTGATGGCACTGATTCTGAAGTTGTATTTTTCTTTAGTCTGAAGATCAGGAACAACGAACTGAGTGATTCTGAGGGCGGTTCCTGTGGTATCTTTTATCCAGGCCTCGTCTCCTACTTTTTGATGCTCCACGACATAGCCAGTGATTTCAAGTCCACCATCATAATGAGGCTTGCCCCATGCCAAAGAAGCAGATTTCTTGGTAGTATCAGTGACATGCGGATTTGAAGGTGGTCCTGGAGGATCTGAGAAAGAAA... | AGCCATCTCCCGTTCTACGATTTCAACATCTGGAATCACCGCTGGCTCCCCAACACCTGCATCGTTGATGGCACTGATTCTGAAGTTGTATTTTTCTTTAGTCTGAAGATCAGGAACAACGAACTGAGTGATTCTGAGGGCGGTTCCTGTGGTATCTTTTATCCAGGCCTCGTCTCCTACTTTTTGATGCTCCACGACATAGCCAGTGATTTCAAGTCCACCATCATAATGAGGCTTGCCCCATGCCAAAGAAGCAGATTTCTTGGTAGTATCAGTGACATGCGGATTTGAAGGTGGTCCTGGAGGATCTGAGAAAGAAA... | pathogenic | 49,063 |
Variant chromosome 2, position 178578195, gene TTN: benign or pathogenic? Disease(s)? | benign | CCGCTGGCTCCCCAACACCTGCATCGTTGATGGCACTGATTCTGAAGTTGTATTTTTCTTTAGTCTGAAGATCAGGAACAACGAACTGAGTGATTCTGAGGGCGGTTCCTGTGGTATCTTTTATCCAGGCCTCGTCTCCTACTTTTTGATGCTCCACGACATAGCCAGTGATTTCAAGTCCACCATCATAATGAGGCTTGCCCCATGCCAAAGAAGCAGATTTCTTGGTAGTATCAGTGACATGCGGATTTGAAGGTGGTCCTGGAGGATCTGAGAAAGAAACAAAGACACAAAAGTATATATTCAGAGTTTGGCTTTTG... | CCGCTGGCTCCCCAACACCTGCATCGTTGATGGCACTGATTCTGAAGTTGTATTTTTCTTTAGTCTGAAGATCAGGAACAACGAACTGAGTGATTCTGAGGGCGGTTCCTGTGGTATCTTTTATCCAGGCCTCGTCTCCTACTTTTTGATGCTCCACGACATAGCCAGTGATTTCAAGTCCACCATCATAATGAGGCTTGCCCCATGCCAAAGAAGCAGATTTCTTGGTAGTATCAGTGACATGCGGATTTGAAGGTGGTCCTGGAGGATCTGAGAAAGAAACAAAGACACAAAAGTATATATTCAGAGTTTGGCTTTTG... | benign | 49,066 |
The mutation impacting TTN on chromosome 2 at position 178578631: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Tibial_muscular_dystrophy'] | CTGCTCTGTTTTCTGCACTGACACGGAATTCGTAGGTGCTTCCTTCTTGCAGTCCTGTTACTTTGCACCTGAGATCGGAAACTGGTGTTTTTATTGCTCTCACCCATCGCAGGCTTTTCTTTTCTCTCCTTTCTACATGATATCCTGTAATTTCGCTGCCACCATCATCCACTGGCCTTTTCCAGCTGACAGTGGCAGTGTTCTTAGTGACATTTGATACCTCTGGTTTTTCAGGAGGGCCAGGGGGACCTGAAAAGGAAGCAAATTTATTAGAAATCCATGATTTCCTAAACTCTGCTATAAATGTTTCCATGTCAATT... | CTGCTCTGTTTTCTGCACTGACACGGAATTCGTAGGTGCTTCCTTCTTGCAGTCCTGTTACTTTGCACCTGAGATCGGAAACTGGTGTTTTTATTGCTCTCACCCATCGCAGGCTTTTCTTTTCTCTCCTTTCTACATGATATCCTGTAATTTCGCTGCCACCATCATCCACTGGCCTTTTCCAGCTGACAGTGGCAGTGTTCTTAGTGACATTTGATACCTCTGGTTTTTCAGGAGGGCCAGGGGGACCTGAAAAGGAAGCAAATTTATTAGAAATCCATGATTTCCTAAACTCTGCTATAAATGTTTCCATGTCAATT... | pathogenic | 49,068 |
Is the genetic change at chromosome 2, position 178578650, within gene TTN benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | GACACGGAATTCGTAGGTGCTTCCTTCTTGCAGTCCTGTTACTTTGCACCTGAGATCGGAAACTGGTGTTTTTATTGCTCTCACCCATCGCAGGCTTTTCTTTTCTCTCCTTTCTACATGATATCCTGTAATTTCGCTGCCACCATCATCCACTGGCCTTTTCCAGCTGACAGTGGCAGTGTTCTTAGTGACATTTGATACCTCTGGTTTTTCAGGAGGGCCAGGGGGACCTGAAAAGGAAGCAAATTTATTAGAAATCCATGATTTCCTAAACTCTGCTATAAATGTTTCCATGTCAATTCCCTCACATGCTCTACATA... | GACACGGAATTCGTAGGTGCTTCCTTCTTGCAGTCCTGTTACTTTGCACCTGAGATCGGAAACTGGTGTTTTTATTGCTCTCACCCATCGCAGGCTTTTCTTTTCTCTCCTTTCTACATGATATCCTGTAATTTCGCTGCCACCATCATCCACTGGCCTTTTCCAGCTGACAGTGGCAGTGTTCTTAGTGACATTTGATACCTCTGGTTTTTCAGGAGGGCCAGGGGGACCTGAAAAGGAAGCAAATTTATTAGAAATCCATGATTTCCTAAACTCTGCTATAAATGTTTCCATGTCAATTCCCTCACATGCTCTACATA... | pathogenic | 49,069 |
The chromosome 2, position 178578696 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'] | CACCTGAGATCGGAAACTGGTGTTTTTATTGCTCTCACCCATCGCAGGCTTTTCTTTTCTCTCCTTTCTACATGATATCCTGTAATTTCGCTGCCACCATCATCCACTGGCCTTTTCCAGCTGACAGTGGCAGTGTTCTTAGTGACATTTGATACCTCTGGTTTTTCAGGAGGGCCAGGGGGACCTGAAAAGGAAGCAAATTTATTAGAAATCCATGATTTCCTAAACTCTGCTATAAATGTTTCCATGTCAATTCCCTCACATGCTCTACATACCAAATCTGTCTACCATTTTGACAGGTTCAGACTGTACAGGTTCTC... | CACCTGAGATCGGAAACTGGTGTTTTTATTGCTCTCACCCATCGCAGGCTTTTCTTTTCTCTCCTTTCTACATGATATCCTGTAATTTCGCTGCCACCATCATCCACTGGCCTTTTCCAGCTGACAGTGGCAGTGTTCTTAGTGACATTTGATACCTCTGGTTTTTCAGGAGGGCCAGGGGGACCTGAAAAGGAAGCAAATTTATTAGAAATCCATGATTTCCTAAACTCTGCTATAAATGTTTCCATGTCAATTCCCTCACATGCTCTACATACCAAATCTGTCTACCATTTTGACAGGTTCAGACTGTACAGGTTCTC... | pathogenic | 49,072 |
A genetic alteration at chromosome 2, position 178579120, in gene TTN—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G'] | GTCCACAAAAGTCGGCTGGTTTCTCTCTTTTCAAGTATATAGGACTTAATTGGTGAGCCGCCATCTTCCAAGGGAGGTGTCCATGTAAGTGTTGCTTTTTCAGCAGAAACATTACTGATTTCAACAGGACCTGGGGGACCAGGTACATCAAGGACTGTTACCTTCACATGTTCCACCTTCGTGCCAAAAGGATTGGTAGCAGTGATGGTATATTCACCCGCATCTTTTCTAGTGGCATACTTGATAGTAAGCATGGAAGATGTTGGGGTTGAAGTTATCTGAGTGATATCTGATGGTCTAATGTCTTTTCCTGCCTTGGA... | GTCCACAAAAGTCGGCTGGTTTCTCTCTTTTCAAGTATATAGGACTTAATTGGTGAGCCGCCATCTTCCAAGGGAGGTGTCCATGTAAGTGTTGCTTTTTCAGCAGAAACATTACTGATTTCAACAGGACCTGGGGGACCAGGTACATCAAGGACTGTTACCTTCACATGTTCCACCTTCGTGCCAAAAGGATTGGTAGCAGTGATGGTATATTCACCCGCATCTTTTCTAGTGGCATACTTGATAGTAAGCATGGAAGATGTTGGGGTTGAAGTTATCTGAGTGATATCTGATGGTCTAATGTCTTTTCCTGCCTTGGA... | pathogenic | 49,093 |
Variant at chromosome position 178579128, 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'] | AAGTCGGCTGGTTTCTCTCTTTTCAAGTATATAGGACTTAATTGGTGAGCCGCCATCTTCCAAGGGAGGTGTCCATGTAAGTGTTGCTTTTTCAGCAGAAACATTACTGATTTCAACAGGACCTGGGGGACCAGGTACATCAAGGACTGTTACCTTCACATGTTCCACCTTCGTGCCAAAAGGATTGGTAGCAGTGATGGTATATTCACCCGCATCTTTTCTAGTGGCATACTTGATAGTAAGCATGGAAGATGTTGGGGTTGAAGTTATCTGAGTGATATCTGATGGTCTAATGTCTTTTCCTGCCTTGGACCAACTTG... | AAGTCGGCTGGTTTCTCTCTTTTCAAGTATATAGGACTTAATTGGTGAGCCGCCATCTTCCAAGGGAGGTGTCCATGTAAGTGTTGCTTTTTCAGCAGAAACATTACTGATTTCAACAGGACCTGGGGGACCAGGTACATCAAGGACTGTTACCTTCACATGTTCCACCTTCGTGCCAAAAGGATTGGTAGCAGTGATGGTATATTCACCCGCATCTTTTCTAGTGGCATACTTGATAGTAAGCATGGAAGATGTTGGGGTTGAAGTTATCTGAGTGATATCTGATGGTCTAATGTCTTTTCCTGCCTTGGACCAACTTG... | pathogenic | 49,094 |
Chromosome 2, position 178579235, 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'] | TGATTTCAACAGGACCTGGGGGACCAGGTACATCAAGGACTGTTACCTTCACATGTTCCACCTTCGTGCCAAAAGGATTGGTAGCAGTGATGGTATATTCACCCGCATCTTTTCTAGTGGCATACTTGATAGTAAGCATGGAAGATGTTGGGGTTGAAGTTATCTGAGTGATATCTGATGGTCTAATGTCTTTTCCTGCCTTGGACCAACTTGATTTTGGAAGGGGTTTGCCAAGAATGCTAATGGCATTCAAAACAATGGTATCCCCTGCTTTAATTGTTAGCCCATCTTTTATTGTGGGATCAAGGACAATTGTTGGT... | TGATTTCAACAGGACCTGGGGGACCAGGTACATCAAGGACTGTTACCTTCACATGTTCCACCTTCGTGCCAAAAGGATTGGTAGCAGTGATGGTATATTCACCCGCATCTTTTCTAGTGGCATACTTGATAGTAAGCATGGAAGATGTTGGGGTTGAAGTTATCTGAGTGATATCTGATGGTCTAATGTCTTTTCCTGCCTTGGACCAACTTGATTTTGGAAGGGGTTTGCCAAGAATGCTAATGGCATTCAAAACAATGGTATCCCCTGCTTTAATTGTTAGCCCATCTTTTATTGTGGGATCAAGGACAATTGTTGGT... | pathogenic | 49,097 |
A genetic variant at chromosome 2, position 178579587, affecting gene TTN—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cardiovascular_phenotype'] | GAAAAGGAAGGAGGCTTAATTTGCTTTAAAAAAAAAAGTACATAAAAAGTAAAATGGACCTACCGTATTCATCCTTGCAAATAATGGTTTCTGTACTTTCTGATGGAGCACTGATAGCACCTGCTGTATTCTTTGCTCTAATTCTGAATTCATATTTTCCACCCTCAACAAGGTCAGTTACAGTAAAGGCACATTCTGGGACATTAACATGGTTGGCTTTCATCCAAGACTTCGAAGGTAGATCTCGCTTCTCCACTATATATCCAGTTAACTTATGACCACCGTCATATTTAGGTTCAGTCCAAATGAGAGTCACTGAA... | GAAAAGGAAGGAGGCTTAATTTGCTTTAAAAAAAAAAGTACATAAAAAGTAAAATGGACCTACCGTATTCATCCTTGCAAATAATGGTTTCTGTACTTTCTGATGGAGCACTGATAGCACCTGCTGTATTCTTTGCTCTAATTCTGAATTCATATTTTCCACCCTCAACAAGGTCAGTTACAGTAAAGGCACATTCTGGGACATTAACATGGTTGGCTTTCATCCAAGACTTCGAAGGTAGATCTCGCTTCTCCACTATATATCCAGTTAACTTATGACCACCGTCATATTTAGGTTCAGTCCAAATGAGAGTCACTGAA... | pathogenic | 49,112 |
The mutation in gene TTN at chromosome 2, position 178579775—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'] | GCACATTCTGGGACATTAACATGGTTGGCTTTCATCCAAGACTTCGAAGGTAGATCTCGCTTCTCCACTATATATCCAGTTAACTTATGACCACCGTCATATTTAGGTTCAGTCCAAATGAGAGTCACTGAATTCCTTGTTATGTTAATAACCTCAGGTTTTCCAGGAGGATCTAAAACATAAAAGCAAAACCAGTCAAACAAATACCAGTTTTCTTCATGTAAAACATGCACCTGGGTTTTTCTTCATATAATGACTTACCAATTGGGTCCAGTGCCACAACAGGCTCTGATGGTAGGCTTGGCTTGCCCACACCTGCT... | GCACATTCTGGGACATTAACATGGTTGGCTTTCATCCAAGACTTCGAAGGTAGATCTCGCTTCTCCACTATATATCCAGTTAACTTATGACCACCGTCATATTTAGGTTCAGTCCAAATGAGAGTCACTGAATTCCTTGTTATGTTAATAACCTCAGGTTTTCCAGGAGGATCTAAAACATAAAAGCAAAACCAGTCAAACAAATACCAGTTTTCTTCATGTAAAACATGCACCTGGGTTTTTCTTCATATAATGACTTACCAATTGGGTCCAGTGCCACAACAGGCTCTGATGGTAGGCTTGGCTTGCCCACACCTGCT... | pathogenic | 49,122 |
Is the genetic mutation found on chromosome 2 at position 178580007, within the gene TTN, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | CCTGGGTTTTTCTTCATATAATGACTTACCAATTGGGTCCAGTGCCACAACAGGCTCTGATGGTAGGCTTGGCTTGCCCACACCTGCTAAATTGATTGCCATAACTCGGAATTCATATTCAAGACCTTCAGTTAATCCTGTCACTTTAAAGTCTCTCATCCTTATCGGAGTCTTGTTAGCTCTCTTCCACAAAAGGCTGTTTCTTTCCTTGAACTCGAGATGATACCCTACAAAAGACCCAGGGATGTATCAAGTATAAATGCAGCTTGATTTTACAATATATATGTGTTGCCCAAATTATTTATACATATCCATATATA... | CCTGGGTTTTTCTTCATATAATGACTTACCAATTGGGTCCAGTGCCACAACAGGCTCTGATGGTAGGCTTGGCTTGCCCACACCTGCTAAATTGATTGCCATAACTCGGAATTCATATTCAAGACCTTCAGTTAATCCTGTCACTTTAAAGTCTCTCATCCTTATCGGAGTCTTGTTAGCTCTCTTCCACAAAAGGCTGTTTCTTTCCTTGAACTCGAGATGATACCCTACAAAAGACCCAGGGATGTATCAAGTATAAATGCAGCTTGATTTTACAATATATATGTGTTGCCCAAATTATTTATACATATCCATATATA... | pathogenic | 49,127 |
Clinical significance of chromosome 2, position 178580119, gene TTN: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'TTN-related_disorder', 'Tibial_muscular_dys... | TCATATTCAAGACCTTCAGTTAATCCTGTCACTTTAAAGTCTCTCATCCTTATCGGAGTCTTGTTAGCTCTCTTCCACAAAAGGCTGTTTCTTTCCTTGAACTCGAGATGATACCCTACAAAAGACCCAGGGATGTATCAAGTATAAATGCAGCTTGATTTTACAATATATATGTGTTGCCCAAATTATTTATACATATCCATATATATTGAACAAGTAGTCATTCTTGCTAGTATCTATACTTTTATTACCCAAGCATAGTGCCATTTTTTTTTTCCTCTTGGAATATGCATAGTTGTTGTCTTTTTTGGTGAACAATT... | TCATATTCAAGACCTTCAGTTAATCCTGTCACTTTAAAGTCTCTCATCCTTATCGGAGTCTTGTTAGCTCTCTTCCACAAAAGGCTGTTTCTTTCCTTGAACTCGAGATGATACCCTACAAAAGACCCAGGGATGTATCAAGTATAAATGCAGCTTGATTTTACAATATATATGTGTTGCCCAAATTATTTATACATATCCATATATATTGAACAAGTAGTCATTCTTGCTAGTATCTATACTTTTATTACCCAAGCATAGTGCCATTTTTTTTTTCCTCTTGGAATATGCATAGTTGTTGTCTTTTTTGGTGAACAATT... | pathogenic | 49,132 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.