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 |
|---|---|---|---|---|---|
A mutation at chromosome position 47335910 on chromosome 11 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype'] | ATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCA... | ATGGGAACAACACACTATAGCCTCTCTCCCCTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCA... | pathogenic | 175,448 |
Does the variant on chromosome 11 at location 47335940 affecting gene MYBPC3 (myosin binding protein C3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCAC... | CTGGGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCAC... | pathogenic | 175,453 |
A genetic variant on chromosome 11, position 47335943, affects the gene MYBPC3 (myosin binding protein C3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy_4'] | GGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTC... | GGGGACAGGGAAGGGGGCCAGTCCCACCTGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTC... | pathogenic | 175,454 |
A genetic alteration at chromosome 11, position 47335971, in gene MYBPC3 (myosin binding protein C3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCA... | TGGAAAGGGATGAGAAGGTTCACAGGCTCCCCGACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCA... | pathogenic | 175,458 |
The mutation impacting MYBPC3 (myosin binding protein C3) on chromosome 11 at position 47336003: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypertrophic_cardiomyopathy'] | GACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCAT... | GACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCAT... | pathogenic | 175,465 |
Does the chromosome 11 mutation at position 47336003 within gene MYBPC3 (myosin binding protein C3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | GACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCAT... | GACCTTCTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCAT... | pathogenic | 175,466 |
Evaluate this variant at chromosome 11, position 47336009, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCA... | CTTCTGAATGGTCTGGCGCAGGTGCCTGGGCAGCTGAAGCCGTGGCCGTTCTGTGGGTATAGAGTGGGTAGCTAAGTGAGGGCCCGCCACAGCTCTGAGGGGCTCCACAGCTCCAACCTCCCTTGAGACAAGGCCCAGAGAGCTGCAGCTAAGAAAAAAGCTGCCTGCTGGGCCCTGCGCCTCCTTTAGCTCCTGCTAACACAGCAACTCCAGGCTGCCCAAGCCCAGCTGGCTTCCCCGAGCCTCACCACTTCAAAAGGCAGGGATCAGAGAGGGTAAGCAACTTGACTGAAGTCACACAGCTAGTAAGTCATAGACCA... | pathogenic | 175,467 |
Benign or pathogenic: chromosome 11, position 47337402, gene MYBPC3 (myosin binding protein C3) variant? Disease(s) if pathogenic? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | TTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAG... | TTTCGCTCTTGTCTCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAG... | pathogenic | 175,475 |
Mutation at chromosome 11, position 47337422, within MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTA... | CTGGAGTGCAATGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTA... | pathogenic | 175,477 |
Located at chromosome 11 position 47337434, the variant affecting gene MYBPC3 (myosin binding protein C3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | GGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGT... | GGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGT... | pathogenic | 175,479 |
Variant in gene MYBPC3 (myosin binding protein C3), located at chromosome 11 position 47337436: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Primary_familial_hypertrophic_cardiomyopathy'] | CATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTT... | CATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTT... | pathogenic | 175,480 |
Variant in MYBPC3 (myosin binding protein C3), chromosome 11, position 47337436—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTT... | CATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTT... | pathogenic | 175,481 |
A mutation at chromosome position 47337437 on chromosome 11 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | ATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTT... | ATGATCTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTT... | pathogenic | 175,483 |
Gene MYBPC3 (myosin binding protein C3) variant at chromosome 11, position 47337442—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACT... | CTTGGCTCACCGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACT... | pathogenic | 175,484 |
Variant on chromosome 11, at position 47337454, affecting MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTT... | CAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTT... | pathogenic | 175,492 |
Is the genetic mutation found on chromosome 11 at position 47337454, within the gene MYBPC3 (myosin binding protein C3), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTT... | CAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTT... | pathogenic | 175,493 |
Is the genetic variant on chromosome 11, position 47337466, gene MYBPC3 (myosin binding protein C3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAA... | CCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAA... | pathogenic | 175,495 |
Variant in MYBPC3 (myosin binding protein C3), chromosome 11, position 47337468—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_1'] | CGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAAC... | CGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAAC... | pathogenic | 175,499 |
Benign or pathogenic: chromosome 11, position 47337481, gene MYBPC3 (myosin binding protein C3) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10'] | TTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTT... | TTCTCCTGCCTCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTT... | pathogenic | 175,502 |
Clinical classification of chromosome 11, position 47337491, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGT... | TCAGCCTCCCGCGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGT... | pathogenic | 175,505 |
Regarding the variant at chromosome 11 and position 47337502, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Primary_familial_hypertrophic_cardiomyopathy'] | CGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTC... | CGTAGCTGGGATCACAGGTGCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTC... | pathogenic | 175,508 |
Variant in gene MYBPC3 (myosin binding protein C3), located at chromosome 11 position 47337533: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Primary_familial_hypertrophic_cardiomyopathy'] | ACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACA... | ACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACA... | pathogenic | 175,513 |
Determine if the mutation at chromosome 11, position 47337541 in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | AATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATC... | AATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTGGTCAGACTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCATCGCGCCTGGCCTTAAATATGTTTTTAAAATGTAGTTGCTGATTTCGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATC... | pathogenic | 175,517 |
Is the genetic change at chromosome 11, position 47337708, within gene MYBPC3 (myosin binding protein C3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTC... | CGCACTGCTCAAAGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTC... | pathogenic | 175,524 |
Considering the variant on chromosome 11, location 47337720, involving gene MYBPC3 (myosin binding protein C3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | AGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTG... | AGAAGTGTTACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTG... | pathogenic | 175,529 |
Variant in gene MYBPC3 (myosin binding protein C3), located at chromosome 11 position 47337729: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10', 'MYBPC3-related_disorder', 'Primary_familial_hypertrophic_cardiomyopathy'] | ACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTC... | ACAGTCAGCTTTACTCTGCATTTGTTTTTCACTAGGCAAGCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTC... | pathogenic | 175,532 |
Gene MYBPC3 (myosin binding protein C3) variant at chromosome 11, position 47337768—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGT... | GCTTTTTTACTTCTGAAAACAGGACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGT... | pathogenic | 175,536 |
Chromosome 11, position 47337791, gene MYBPC3 (myosin binding protein C3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Primary_familial_hypertrophic_cardiomyopathy'] | ACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGG... | ACAGATATTTCTCTGGGTGTCCTCAACTTTCGGCAAAAGTGGGCCTAAAAAACTTGACTACAGGTGAATCTGCTCAATGGCAAGGTGAGCATGTTCTTCCTTTGGGGAGGGGGGTTGGGGGCGGGGACACTCACAGCCCTCTGGGCAGTACTCCACGCTGTAGCCATCCAGGCCTCCTGCTCCCACGCGCTCTGGGGGCCGCCACTTGAGGGAGACCGTGGTGTCAGAGACGTCCTCTACTGCCAGGTGGGTGGGTTCGCTGGGGGGACCTGGGCAGAGGAGAGGTCAGAGAGGGGTCTGAGCAAGCCTGGGGAAGCTGG... | pathogenic | 175,539 |
For chromosome 11, position 47338516, gene MYBPC3 (myosin binding protein C3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGT... | TGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGT... | pathogenic | 175,548 |
Clinical significance of chromosome 11, position 47338546, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | AAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATG... | AAAAAAAAAAAAAAAACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATG... | pathogenic | 175,553 |
Variant in gene MYBPC3 (myosin binding protein C3), located at chromosome 11 position 47338560: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | AACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCT... | AACTAAAACTAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCT... | pathogenic | 175,556 |
A genetic variant at chromosome 11, position 47338569, affecting gene MYBPC3 (myosin binding protein C3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGG... | TAAAACTACAGAAAACATGGGAATTTCCTGGCACGTATGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGG... | pathogenic | 175,557 |
Variant at chromosome 11, position 47338606, gene MYBPC3 (myosin binding protein C3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype'] | TGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTG... | TGATTAGGTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTG... | pathogenic | 175,562 |
Evaluate if the mutation on chromosome 11 at position 47338613 in MYBPC3 (myosin binding protein C3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGC... | GTGAGTTGACTAAGAACTGAACAAACCAGGAATCAGTCCCTAAAACGAGAGGCCTGGACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGC... | pathogenic | 175,564 |
Gene MYBPC3 (myosin binding protein C3) variant at chromosome 11, position 47338669—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hypertrophic_cardiomyopathy'] | GACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCT... | GACCCTTCTCCCCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCT... | pathogenic | 175,574 |
Evaluate this variant at chromosome 11, position 47338680, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Primary_familial_hypertrophic_cardiomyopathy'] | CCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTAC... | CCACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTAC... | pathogenic | 175,577 |
Chromosome 11, position 47338681, gene MYBPC3 (myosin binding protein C3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACA... | CACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACA... | benign | 175,578 |
Is the chromosome 11, position 47338681 variant in MYBPC3 (myosin binding protein C3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACA... | CACAGGCCCCGATTCCTGCCATCTTCCCAAGCTGTGCCCCATCCCTGGGCCCAGGGGTCCTTGGCCTGCCCTTGCCACAGGCAGCTGCCCCCGGACTCACCCACCCTAGTGGGAACAGGTGTCCTCCTGAGCCCTGCCACAGTCTCAACACCTGTTCTGCCCACTCAGACCCCATTATACAGATGAGGAAGCTGAGGCTTCAGGGAGGGATGACTCCAGTTGGCCCCCCGGGGACCATGGAGCTGCCTCTGCCATCTCTGAGTCTTGGTCCAGGACTCTTTCCACAGACAGATGCCCCTGAGACCCCTCCACTAACTACA... | benign | 175,579 |
Variant in MYBPC3 (myosin binding protein C3), chromosome 11, position 47339358—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACA... | CTGCCTGCAGAGCACCTGCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACA... | pathogenic | 175,586 |
The mutation impacting MYBPC3 (myosin binding protein C3) on chromosome 11 at position 47339375: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Primary_dilated_cardiomyopathy'] | GCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATC... | GCTATTATTGGAGGTTTTTAACTGGGGAGGGGGCGGGGGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATC... | pathogenic | 175,589 |
Clinically, how would you classify the variant at chromosome 11, position 47339412, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGC... | GGGCAGGACCAGGCCAGGCAGGCTCACCGATAGGCATGAAGGGCTGGGAGGCAGGGCTGGGCCTGGACATGCCGATGGCGTTGACCGCGTAGACGCGCATCTCGTACACCACGCCCTCGATCATGCGCCGCGCTTCATGACTCAGCTCCTGAATCAGGTCGAAGTTCAGCCGCATCCACCGGTAGCTCTTCTTCTTCTTGCGCTCCAGGATGTAGCCTGGCTCAGGGGAGGTGGCAGCTCTGGTCTGGAACCCAGGCATCCCCACACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGC... | benign | 175,593 |
For chromosome 11, position 47339677, gene MYBPC3 (myosin binding protein C3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | ACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTT... | ACCACCTTCCCTCGGATCTGTTTGGCGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTT... | pathogenic | 175,602 |
A mutation at chromosome position 47339702 on chromosome 11 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAG... | CGCCCTCACACCTCCATCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAG... | pathogenic | 175,605 |
Variant at chromosome 11, position 47339718, gene MYBPC3 (myosin binding protein C3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10'] | TCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCAC... | TCCGGTGCCCTTGCACTCACCCAGGATGGGCTGCCCGCCATCGTAGGCAGGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCAC... | pathogenic | 175,609 |
A genetic alteration at chromosome 11, position 47339767, in gene MYBPC3 (myosin binding protein C3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGC... | GGCGGCTCCCACTGTACTGTGCAGGAGTCCTCTCCCACGTTGCTGATCTTGGGGGCCGCAGGTGCGTCTGGCACGTCTGGATGGGGTGGGATGGACCCACATCAGCCCTGCCCCGCTCAGGGCCTTGAGTAACGTTGCTCGTCCCCTTCCCACTCCAACTAACCGCCACAGGCTGCCCCCACCACCCCCAGATCCAAAGAGATCTTTCTAGAATGCATTTCTTTCTTCTTTTCCTTTTTTTTTTTTTTTTTTTAGTGATATGGAGTCTCACTGTGTTGTCCAGGCTGGGTCTCAACAGGATGCATTTCTGATCATGTCGC... | pathogenic | 175,614 |
Regarding the variant found on chromosome 11 at position 47341029 in gene MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTC... | GCAGCTACACTGGCAGAAAAGTGTCTCAGAAACTACTCCTGAGTTGAGAGGGAGCACAAGGTCAAGGTCAAGGTCAGCTTAGGATGAAGGGAGCCAGGGAGCAGCCCAGTCATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTC... | pathogenic | 175,632 |
Assess the variant on chromosome 11, position 47341139, impacting MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGA... | CATGAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGA... | pathogenic | 175,637 |
Assess the variant on chromosome 11, position 47341142, impacting MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hypertrophic_cardiomyopathy'] | GAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACA... | GAGGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACA... | pathogenic | 175,638 |
Evaluate this variant at chromosome 11, position 47341144, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype'] | GGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGG... | GGGCTTCCTGGCAATGAGAGGGTGTCCACATCCTTGTGATGGCCATCAGCACACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGG... | pathogenic | 175,639 |
Variant at chromosome 11, position 47341196, gene MYBPC3 (myosin binding protein C3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hypertrophic_cardiomyopathy_1'] | ACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTC... | ACTTCACAGAGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTC... | pathogenic | 175,649 |
Determine if the mutation at chromosome 11, position 47341205 in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hypertrophic_cardiomyopathy'] | AGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTC... | AGACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTC... | pathogenic | 175,652 |
Determine if the mutation at chromosome 11, position 47341206 in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | GACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCT... | GACCCTCTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCT... | pathogenic | 175,653 |
Considering the variant on chromosome 11, location 47341212, involving gene MYBPC3 (myosin binding protein C3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACC... | CTGCCTGAGGTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACC... | pathogenic | 175,655 |
Considering the genetic mutation at chromosome 11, position 47341221, impacting MYBPC3 (myosin binding protein C3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCC... | GTGTGAGGGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCC... | pathogenic | 175,658 |
A genetic alteration at chromosome 11, position 47341228, in gene MYBPC3 (myosin binding protein C3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cardiomyopathy'] | GGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGC... | GGCCCCACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGC... | pathogenic | 175,660 |
A genetic variant on chromosome 11, position 47341234, affects the gene MYBPC3 (myosin binding protein C3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | ACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCT... | ACAGGGACCCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCT... | pathogenic | 175,662 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 47341242, gene MYBPC3 (myosin binding protein C3). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCC... | CCTGCTGGGGGCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCC... | pathogenic | 175,663 |
Clinical classification of chromosome 11, position 47341252, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease(s) if pathogenic? | benign | GCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAG... | GCAGCAACACACCCGGCCAAGTGTGGCACCTCCATGGAGACCTCGCCAAGGGCTCGGCACCACGTAGGTAGAAAGTGATGAAAGACAAACGAGCCTCCTCCTGACCTCAGTCTCACTCACCTTCTTGTCAAACACCCACTCATCGCTGTCACCTGTGTCCTCTGGGGCATCTGGGGCTGGCCTGGCTGGGGCCTTATTCCCCTGGGAACAGGGCAGGAGGGAAGTAGGGAGCAGAGGAGCTGACTCAGCCTGGAAGCGCCCCTCTGCTGCTTCTTCCACCCCCTGACCCACACTGCCCACCTTGCCTGCCCCCTGACCAG... | benign | 175,666 |
Benign or pathogenic: chromosome 11, position 47342003, gene MYBPC3 (myosin binding protein C3) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Primary_familial_hypertrophic_cardiomyopathy'] | TGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACAC... | TGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACAC... | pathogenic | 175,674 |
Variant at chromosome position 47342003, chromosome 11, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACAC... | TGAATACACCCATGCAATTATTAATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACAC... | pathogenic | 175,675 |
Is the chromosome 11, position 47342025 variant in MYBPC3 (myosin binding protein C3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | AATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGC... | AATCCAACCAAGATCTGGAACATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGC... | pathogenic | 175,679 |
Is the variant located on chromosome 11 at position 47342046, gene MYBPC3 (myosin binding protein C3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hypertrophic_cardiomyopathy'] | ATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCA... | ATTCCCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCA... | pathogenic | 175,681 |
A mutation at chromosome position 47342050 on chromosome 11 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACA... | CCATCACCCCAGGACGTTGGCTGGGAGGCTTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACA... | pathogenic | 175,683 |
Variant at chromosome position 47342079, chromosome 11, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hypertrophic_cardiomyopathy'] | TTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCA... | TTGTAATATTCAGGTCAGGTCACCTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCA... | pathogenic | 175,689 |
The mutation in gene MYBPC3 (myosin binding protein C3) at chromosome 11, position 47342102—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAA... | CTAGCATAGCATTTTGAAAACTGGGGGAACATCAGTGTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAA... | pathogenic | 175,692 |
Mutation found at chromosome 11 position 47342138, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Primary_familial_hypertrophic_cardiomyopathy'] | GTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTA... | GTCTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTA... | pathogenic | 175,699 |
Does the variant on chromosome 11 at location 47342140 affecting gene MYBPC3 (myosin binding protein C3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAAT... | CTTGCCACACACATACACACACACACAATACACACACACACACGCATATACACATACACACAGACACACATACACATACACACATGCACACACAGACACACACATGCACACAGACACAAATACACATACATACACGCACACACACAGACACAGACACACATATATACATACACACACAGACACATGCACACACACACACGCGCGCACACATGCACGCACACATGCACACATTAAAAAGGTTCCCTGGCCAAATAAATCAGGAATCTGCCCTCAGTTAAACAAAGCAAAGCAGTCTGGACGCAGTGGCTCACGCCTGTAAT... | pathogenic | 175,700 |
A genetic variant at chromosome 11, position 47342558, affecting gene MYBPC3 (myosin binding protein C3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | AAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAAC... | AAAAATAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAAC... | benign | 175,704 |
Is the genetic mutation found on chromosome 11 at position 47342563, within the gene MYBPC3 (myosin binding protein C3), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGG... | TAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGG... | benign | 175,706 |
The mutation impacting MYBPC3 (myosin binding protein C3) on chromosome 11 at position 47342579: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | GTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAA... | GTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAA... | pathogenic | 175,715 |
Regarding the variant found on chromosome 11 at position 47342586 in gene MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hypertrophic_cardiomyopathy'] | GCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCC... | GCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCC... | pathogenic | 175,716 |
Benign or pathogenic: chromosome 11, position 47342606, gene MYBPC3 (myosin binding protein C3) variant? Disease(s) if pathogenic? | pathogenic; ['Hypertrophic_cardiomyopathy_4'] | TCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGC... | TCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGC... | pathogenic | 175,719 |
Does the variant on chromosome 11 at location 47342606 affecting gene MYBPC3 (myosin binding protein C3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGC... | TCAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGC... | pathogenic | 175,720 |
Is the genetic variant on chromosome 11, position 47342607, gene MYBPC3 (myosin binding protein C3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCT... | CAGGAGGCTGAGGCAGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCT... | pathogenic | 175,721 |
Clinical classification of chromosome 11, position 47342621, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | AGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCA... | AGGAGAGTGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTTCTCTCCAGCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCA... | pathogenic | 175,727 |
Considering the genetic mutation at chromosome 11, position 47342686, impacting MYBPC3 (myosin binding protein C3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_1', 'Hypertrophic_cardiomyopathy_4', 'MYBPC3-related_disorder'] | GCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTT... | GCGTGGGCGACAGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTT... | pathogenic | 175,740 |
Considering the variant on chromosome 11, location 47342697, involving gene MYBPC3 (myosin binding protein C3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hypertrophic_cardiomyopathy'] | AGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTG... | AGAGGGAGACTCCGTCTCAAAAAAAATAAAAATAAAAAAAAAGGAAGAAGAAGAAAAGATGTAATAATAACAGTCACACATGTGACAGCACTTGACAGGTCTGATACATCATGTCACCTCATCTTTATAACTATCCTATGAGGTGGCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTG... | pathogenic | 175,742 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 47342842, gene MYBPC3 (myosin binding protein C3): what disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACC... | GCACTATCAGGGTTCCCATTTTAGAGAAGAGGAAACTGAGGCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACC... | pathogenic | 175,764 |
Evaluate if the mutation on chromosome 11 at position 47342882 in MYBPC3 (myosin binding protein C3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Isolated_Noncompaction_of_the_Ventricular_Myocardium'] | GCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTT... | GCTCACAGAGATTATAATTGACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTT... | pathogenic | 175,771 |
A mutation at chromosome position 47342902 on chromosome 11 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hypertrophic_cardiomyopathy_1', 'Hypertrophic_cardiomyopathy_4'] | ACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGA... | ACCCATGGTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGA... | pathogenic | 175,775 |
Determine if the mutation at chromosome 11, position 47342909 in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | GTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTC... | GTCATGAGTGGCAAAGCTGAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTC... | pathogenic | 175,776 |
Assess the variant on chromosome 11, position 47342927, impacting MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_1'] | GAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTC... | GAAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTC... | pathogenic | 175,780 |
Gene mutation in MYBPC3 (myosin binding protein C3) at chromosome 11, position 47342928—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy_4'] | AAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCA... | AAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCA... | pathogenic | 175,781 |
A genetic variant on chromosome 11, position 47342928, affects the gene MYBPC3 (myosin binding protein C3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hypertrophic_cardiomyopathy'] | AAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCA... | AAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCA... | pathogenic | 175,782 |
Gene mutation in MYBPC3 (myosin binding protein C3) at chromosome 11, position 47342928—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | AAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCA... | AAGCTGGGCCCCAGGACCCCCACTTTTGATCCTTGCTCTTCCCTCTGTGAGTGGAGGGGAGGCCTGCGTGGGTGGGTTGCGGGAAAGTGAGCAGAACCAAGACTCAGGGGCCCCAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCA... | pathogenic | 175,783 |
Gene MYBPC3 (myosin binding protein C3) variant at chromosome position 47343041 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAG... | CAAGACTTACCCTGCCTGGGTACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAG... | pathogenic | 175,798 |
Does the variant on chromosome 11 at location 47343061 affecting gene MYBPC3 (myosin binding protein C3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hypertrophic_cardiomyopathy'] | TACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCT... | TACGAAGTCAATCTTGACCTCTGCAAGAGAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCT... | pathogenic | 175,801 |
Regarding the variant at chromosome 11 and position 47343089, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTG... | GAAGGAAGAGCAAGTAGCACGGGGGCAAAGGCAGGGCCCAGTGACAGGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTG... | pathogenic | 175,809 |
Is chromosome 11, position 47343135, gene MYBPC3 (myosin binding protein C3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGC... | GGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGC... | pathogenic | 175,817 |
Variant at chromosome 11, position 47343135, gene MYBPC3 (myosin binding protein C3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGC... | GGGGCTCCTGGCCCCACTGCCCCGACCCACCCTACCCTGGAGCAGGCTCACCCATGAAGTGGAGCTTGGCTGACAGGTTGCAGGCGAAGCCCTCGGGCACAAAGCTGTAGTCAGCCTCGTCGGCAGGTGTGACGTCGTCAATGGTCAGTTTGTGGACCCTGCAGGGGAGCAGTGGCTCAGGGGACCCCACTGGGCCACACACCCCTGGCCTTGCCAGATACCCCAGCCAGGGTCCCAGGAGGCCCTCACCTTGTCCTGGCTTGTTGGTATTCTGATTTTTAAAAATGCCTTTTTTTTTCTATATTATCTAATTTTCCAGC... | pathogenic | 175,818 |
Is chromosome 11, position 47343540, gene MYBPC3 (myosin binding protein C3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hypertrophic_cardiomyopathy'] | AGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGT... | AGGGGCTGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGT... | pathogenic | 175,843 |
Considering the genetic mutation at chromosome 11, position 47343546, impacting MYBPC3 (myosin binding protein C3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Primary_familial_hypertrophic_cardiomyopathy'] | TGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTT... | TGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTT... | pathogenic | 175,845 |
A mutation at chromosome position 47343546 on chromosome 11 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10', 'Primary_familial_hypertrophic_cardiomyopathy'] | TGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTT... | TGGGTCTCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTT... | pathogenic | 175,846 |
A mutation at chromosome position 47343552 on chromosome 11 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCT... | TCATTAATCTCTGTGAACTTGGGCCCAGCACGGCCAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCT... | pathogenic | 175,847 |
Is the genetic change at chromosome 11, position 47343586, within gene MYBPC3 (myosin binding protein C3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCA... | CAGCCCAGTTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCA... | pathogenic | 175,852 |
A genetic variant on chromosome 11, position 47343594, affects the gene MYBPC3 (myosin binding protein C3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiovascular_phenotype'] | TTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGT... | TTGCTCCAGGGATGAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGT... | pathogenic | 175,853 |
Is the genetic variant on chromosome 11, position 47343607, gene MYBPC3 (myosin binding protein C3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype'] | GAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGC... | GAGCAAGAGGGCGGGAGAGGCAGTGAGGGCCTCTGGCCAGAGCCGGCCTCCTTGGTGGCCTCCTGCCCTGCCCTGGTCACAAGCTGGGGGAGGGTGCTGGGGAGCGCTCGACCCCGTCCGTGTCTCTCCCTGCTGCCTCTTTGTCTCTGTCCCTCTGTTCTTCTCTGTCTCTGACGAACTCTCCTATGTGTGTGCCTCCCTGTGCATATCTTTCTGTCTCTATAGAACTATTTCTGTCTTTCTGTCTCTTTGTCTTTTTGGGTCTGTCTGTTTCTCCCTCTCTGTGGGTCTCTGTCTCAGTCTCTGTCCTGTCTCTGTGC... | pathogenic | 175,855 |
Chromosome 11, position 47346212, gene MYBPC3 (myosin binding protein C3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypertrophic_cardiomyopathy'] | TCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCC... | TCCACCTGCTCAGCTCAGGGATTGGGTTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCC... | pathogenic | 175,867 |
Is the chromosome 11, position 47346238 variant in MYBPC3 (myosin binding protein C3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAG... | TTAGGGGCTTCCAGAAAGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAG... | pathogenic | 175,871 |
Classify the chromosome 11 variant at position 47346254 affecting gene MYBPC3 (myosin binding protein C3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'Left_ventricular_noncompaction'] | AGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGC... | AGACAGAAGCTTGTCAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGC... | pathogenic | 175,872 |
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