question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 47346268, gene MYBPC3 (myosin binding protein C3): what disease(s) if pathogenic? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGG... | CAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGG... | pathogenic | 175,874 |
Clinical significance of chromosome 11, position 47346268, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGG... | CAGGAGAACTGGGGCTGGGACAGCTGTGCCTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGG... | pathogenic | 175,875 |
Regarding the variant found on chromosome 11 at position 47346297 in gene MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGA... | CTTCTCTTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGA... | pathogenic | 175,880 |
Determine whether the variant at chromosome 11, position 47346303, in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hypertrophic_cardiomyopathy'] | TTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACC... | TTCTCTCAGCAACCCCTGAGTTGTGTACTCTTCCCAGGCGCTCCCACCTAGCAGCCCTCTGTGCCCAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACC... | pathogenic | 175,883 |
Assess the variant on chromosome 11, position 47346368, impacting MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTG... | CAGCACTCTCACTCCCATCTCAGCCCCCAGGGCCAGTGCGGTGGTCCCCATGCTGCTGCAGTGGGGGAAATAGGGCTCAGAGAGGCGACTGGCCCAATGCCACCAGCCCAGCAGGTGTGTGGCAGAGCTGGGTCTTGAGCCCAGCCCTGCTCCACAACAATGCCTCCTCTTGCGGCCGTGTTTGTAAAAGCCCATGTTGCTGCTGCTGAGCCCAGGGAGGAAGTGGGGGCTCCATCCACCGAGCAGAGAAGGACCCCTGAGTCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTG... | pathogenic | 175,894 |
Variant in gene MYBPC3 (myosin binding protein C3), located at chromosome 11 position 47346629: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hypertrophic_cardiomyopathy'] | TCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTC... | TCCTCAAATACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTC... | pathogenic | 175,905 |
The mutation impacting MYBPC3 (myosin binding protein C3) on chromosome 11 at position 47346638: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10', 'MYBPC3-related_disorder', 'Primary_familial_hypertrophic_cardiomyopathy'] | ACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAG... | ACTCTGGCTGGGCCTGGAGTCAGCTGCGGAGGGGCAGAGATCTACTGCTGGGTGCTCTGTGACCTTGCGCTAGTTCCTTAAACCCTCTGTGCCTCGGTTTCCTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACATAAAGCACCTAGTGGCTGGCTTAGGAAGGAACTCACTCACTTTTTTTGAGATGGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAATGGCACAATCCTGACTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAG... | pathogenic | 175,908 |
Evaluate this variant at chromosome 11, position 47347433, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | GCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGC... | GCCTGGGGGAGGTCAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGC... | pathogenic | 175,917 |
A genetic alteration at chromosome 11, position 47347446, in gene MYBPC3 (myosin binding protein C3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10'] | CAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGT... | CAGCAGGGAGGGACTAACCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGT... | pathogenic | 175,918 |
Is the genetic change at chromosome 11, position 47347463, within gene MYBPC3 (myosin binding protein C3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | CCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGAT... | CCAGCTCCTCTCCCCGTCCCCATGATCGTGTGTGTTTTGTGTGTGTGCTTTGGGAGGGGCTTGTCTCCCATATCCTGCATGGAAGCTGACCCCTCCATTCAGTCGGTGTTTATAGAGCGCTCGAGGTGTGTGCCAGGCCCTGTGCTAGACCCAGACATGGTGGGGAGAAGGCATGTGAGACCCCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGAT... | pathogenic | 175,920 |
Clinical significance of chromosome 11, position 47347645, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypertrophic_cardiomyopathy'] | CCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTT... | CCTGCTTTCCCGGCTCACACCCGCCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTT... | pathogenic | 175,930 |
Considering the variant on chromosome 11, location 47347668, 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', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10'] | CCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTT... | CCCTTGTCAACCCCTCAGTGGAGAAGGGCTATTCCTGGGCTCTCCTCTTTCCATCTGCCTGGGGGTGAGGGTAGTTAACCCAAGCCCTCCTGCTTTGTTTGCCTGAGAGAAAGATTAGCCAGGCTCTTTTCTTTGCCTGTGTGTGGCTCTCCAGGCTTAGCGGGCCTCTTCCCTTTTCTTTTGGGTGTGGAGAGGGTTAACCGGGCTTCATTTCTTTTCAGAAGAGGGTAGAGAAAGAAAGTGTAGCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTT... | pathogenic | 175,932 |
A mutation at chromosome position 47347913 on chromosome 11 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTC... | GCCTGATTTTTCCTTGGTGAGGAGGGTTAACCTGAGCTCTGTCCTTTTCCTTGTGGCTGTCCTGGCCTAACTTTTGCTCTTCTCTTCTATCTCTGTGGTAAGGGGCTAACCTGGGCATTCTTGGCTTTTTCTACACAAGGAGGGGTTAACCTGGGCTCTTCTTTCCTGTGAGTCTCTGTGCTAAGCCGGACTCCGCTCTTTCCATGTATGTGGACGAGGTGGGGGGCTAACCTGTGCCCTCTCCTCTCCCCTGTGGGGAAGGGCTAACCTATGCCCTCTCCTCTCCTGTGTAGGGAAGGGCTAGCCTGTGCCCTCTCCTC... | benign | 175,944 |
Considering the variant on chromosome 11, location 47348490, 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? | benign | GACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACT... | GACCAAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACT... | benign | 175,957 |
Variant chromosome 11, position 47348494, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease(s)? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | AAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCA... | AAGGAGCTGTAGCCACCCCTGTCCCTCTGCCCCTTCCCTTCTGGTGGGGCAGCTGGAGCTGCTCTGGGTCCCAGGCCAGGCAGGACTGGGGGCCAAGGGAGCTGAAGAGGGGCTGGGGATCTGGAGGGGCTCCTGGCAGAATTAGGGGTGATGAGGGTGCTGTGCTATGTTGGGCACTCACCTCGGGGTCCGGAAACTGCTGCTCCAGGGGTGGGGGTGGGAGAAAGGGTAGGTGGCACATGAGAGGTATGGCCACCTTCCCTCAAAGACCTGGACCCCACCCATGGGCCTTTACTTCCTCCCTATTTTCCGCACTTGCA... | pathogenic | 175,959 |
Classify the chromosome 11 variant at position 47349790 affecting gene MYBPC3 (myosin binding protein C3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTT... | CACTGACTTCAGCTCCGCCCCGCAAATCATCCCCAGCCCTGACCCCCAGTCGAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTT... | pathogenic | 175,981 |
A mutation at chromosome position 47349841 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'] | GAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCC... | GAGACCCTGAAGGGCCTCAGACTCCAGCACTGGCCTCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCC... | pathogenic | 175,986 |
Evaluate the clinical significance of the mutation at chromosome 11, position 47349876 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | TCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAA... | TCCCCCAGGCCCTGAGGATGGCCACTCACGTGCGGCGGAAGGCTGATAGGAGGTCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAA... | pathogenic | 175,995 |
Determine whether the variant at chromosome 11, position 47349929, in gene MYBPC3 (myosin binding protein C3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAA... | TCCAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAA... | benign | 176,002 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 47349931, gene MYBPC3 (myosin binding protein C3). What disease(s) is it linked to if pathogenic? | benign | CAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAA... | CAGGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAA... | benign | 176,003 |
Is the genetic change at chromosome 11, position 47349933, within gene MYBPC3 (myosin binding protein C3) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACA... | GGTCTCCGGTGCCCATGGCCTCTGGGTTCAAAGGGTGGAGAGATGGGGGAAGGGGCTTCAGAGGGGGCCGTTTGAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACA... | benign | 176,004 |
Classify the chromosome 11 variant at position 47350006 affecting gene MYBPC3 (myosin binding protein C3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCT... | GAGAAGCCCTGCCCTGGGGGCGGCCTCTGAGTATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCT... | pathogenic | 176,007 |
Does the chromosome 11 mutation at position 47350038 within gene MYBPC3 (myosin binding protein C3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | ATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGG... | ATTCACAGACTTGCCCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGG... | pathogenic | 176,013 |
The genetic variant at chromosome 11, position 47350052, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTC... | CCATTCATGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTC... | pathogenic | 176,015 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 47350059, gene MYBPC3 (myosin binding protein C3). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10'] | TGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGG... | TGACCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGG... | pathogenic | 176,017 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 47350062, gene MYBPC3 (myosin binding protein C3): what disease(s) if pathogenic? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGAC... | CCCCATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGAC... | pathogenic | 176,018 |
Variant in MYBPC3 (myosin binding protein C3), chromosome 11, position 47350065—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAG... | CATGAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAG... | pathogenic | 176,019 |
Gene MYBPC3 (myosin binding protein C3) variant at chromosome 11, position 47350068—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | GAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCA... | GAGGCTGGGCATCTGCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCA... | pathogenic | 176,020 |
The mutation impacting MYBPC3 (myosin binding protein C3) on chromosome 11 at position 47350082: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Primary_familial_hypertrophic_cardiomyopathy'] | GCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTT... | GCCCCAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTT... | pathogenic | 176,024 |
Evaluate this variant at chromosome 11, position 47350086, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | CAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGA... | CAGGATCTCACCTTCCCAGCCTTTCCCAGGGTCAAGGTACCAGGCAGGTGGGACGGTTTATTGTCCCCAATTCCCACCCATCTCTCAACTCACCTTCACCCATCGCCCAAACATTCAGACAGTGCCAGGCCATGGGCCAGGAGCCGTGACACCAAGATGATAAAACAGAGTCCCACCCAGATGAGACCCGGACTCAGCCCTAAGCCCCCACGCCTACCCTGCAAGCCTTGGGGTTTCTCTCACACCCTGTGTGTGCAGCACTGGGCACGTGGCCAGCACTCATGTCTGGATGGGACGAGGCATCCTCCTTAGTGTTGGGA... | pathogenic | 176,025 |
The chromosome 11, position 47350502 genetic variant in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGT... | CAAATTTGTCCTTGGTGGACACCTCACAGCGGTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGT... | pathogenic | 176,032 |
Variant at chromosome position 47350533, chromosome 11, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGC... | GTAGCTGCCAGTGAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGC... | pathogenic | 176,036 |
Variant at chromosome 11, position 47350545, gene MYBPC3 (myosin binding protein C3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGA... | GAAGGCAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGA... | pathogenic | 176,040 |
Clinical significance of chromosome 11, position 47350550, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Primary_familial_hypertrophic_cardiomyopathy'] | CAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGC... | CAGGCTGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGC... | pathogenic | 176,041 |
The genetic variant at chromosome 11, position 47350555, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | TGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAA... | TGGGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAA... | pathogenic | 176,042 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 47350557, gene MYBPC3 (myosin binding protein C3). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACC... | GGCATCGGTGATGTGCAGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACC... | pathogenic | 176,043 |
Variant at chromosome 11, position 47350573, gene MYBPC3 (myosin binding protein C3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4'] | AGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTG... | AGCTCGAACAGATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTG... | pathogenic | 176,046 |
Is chromosome 11, position 47350583, gene MYBPC3 (myosin binding protein C3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hypertrophic_cardiomyopathy'] | GATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCG... | GATAGACCTGTGTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCG... | pathogenic | 176,049 |
Considering the genetic mutation at chromosome 11, position 47350594, impacting MYBPC3 (myosin binding protein C3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypertrophic_cardiomyopathy'] | GTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCA... | GTGCATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCA... | pathogenic | 176,051 |
Is the genetic variant on chromosome 11, position 47350597, gene MYBPC3 (myosin binding protein C3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTG... | CATGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTG... | pathogenic | 176,052 |
Classify the chromosome 11 variant at position 47350599 affecting gene MYBPC3 (myosin binding protein C3) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | TGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCA... | TGGAGGGACGGGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCA... | pathogenic | 176,053 |
Benign or pathogenic: chromosome 11, position 47350609, gene MYBPC3 (myosin binding protein C3) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTG... | GGGCGTCAGGGGACACCAGGGGCCGGGAGACAAGGCTCCGCACCCTTAAAGGAGACTGGGAGTGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCCACTTTGGGAGGCTGAGGCGGGCGGATCACATAAGACCAGGAGCTCCAGACCAGCCTGGCCAACGTGGTGAAATTCCGTCTCTACTAAAAATAACGAAAATTAGCCAAGTATGGTGGTGCACACCTCTAGTTTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCTG... | pathogenic | 176,054 |
The chromosome 11, position 47351254 genetic variant in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | AGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTG... | AGCCTTAAGGTTCTGGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTG... | pathogenic | 176,062 |
Variant in MYBPC3 (myosin binding protein C3), chromosome 11, position 47351268—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | GGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAA... | GGTGGGCAGGGCGGAAAAAAACAAAACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAA... | pathogenic | 176,064 |
For chromosome 11, position 47351293, gene MYBPC3 (myosin binding protein C3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hypertrophic_cardiomyopathy'] | ACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTC... | ACACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTC... | pathogenic | 176,066 |
Mutation found at chromosome 11 position 47351294, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype'] | CACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCC... | CACAAAAAACGAAGGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCC... | pathogenic | 176,068 |
The mutation in gene MYBPC3 (myosin binding protein C3) at chromosome 11, position 47351307—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiomyopathy'] | GGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATC... | GGCTTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATC... | pathogenic | 176,073 |
A genetic variant on chromosome 11, position 47351310, 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', 'Primary_familial_hypertrophic_cardiomyopathy'] | TTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCA... | TTAAGGTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCA... | pathogenic | 176,075 |
Does the genetic variant at chromosome 11, position 47351315, impacting gene MYBPC3 (myosin binding protein C3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'MYBPC3-related_disorder'] | GTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCC... | GTTCTAGGCCTATGTCTAAGTGACCTTGGAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCC... | pathogenic | 176,076 |
The genetic variant at chromosome 11, position 47351343, affecting gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Arrhythmogenic_right_ventricular_cardiomyopathy', 'Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_4', 'Left_ventricular_noncompaction_10', 'Primary_familial_hypertrophic_cardiomyopathy'] | GAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTG... | GAGCAGCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTG... | pathogenic | 176,080 |
Evaluate the clinical significance of the mutation at chromosome 11, position 47351348 in gene MYBPC3 (myosin binding protein C3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hypertrophic_cardiomyopathy'] | GCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGC... | GCCACTTAACCTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGC... | pathogenic | 176,081 |
Variant chromosome 11, position 47351358, gene MYBPC3 (myosin binding protein C3): benign or pathogenic? Disease(s)? | pathogenic; ['Hypertrophic_cardiomyopathy'] | CTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCC... | CTCTCAAGCTTTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCC... | pathogenic | 176,083 |
The mutation in gene MYBPC3 (myosin binding protein C3) at chromosome 11, position 47351368—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy', 'MYBPC3-related_disorder'] | TTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCC... | TTGGTTTCCGTGTCTGTATAATGAGGAATTGTTCTGGTTAATCCCTGAGAGTCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCC... | pathogenic | 176,086 |
Gene MYBPC3 (myosin binding protein C3) variant at chromosome 11, position 47351419—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCT... | TCCCTTGAGCCCTTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCT... | pathogenic | 176,091 |
Variant on chromosome 11, at position 47351431, affecting MYBPC3 (myosin binding protein C3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | TTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTC... | TTAGCCCTGATACTCACCCATCCAGGGGCTTTACAACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTC... | pathogenic | 176,094 |
Is the genetic change at chromosome 11, position 47351465, within gene MYBPC3 (myosin binding protein C3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiomyopathy', 'Hypertrophic_cardiomyopathy'] | AACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTC... | AACCCCACTAGCTGGTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTC... | pathogenic | 176,101 |
A genetic variant at chromosome 11, position 47351479, affecting gene MYBPC3 (myosin binding protein C3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hypertrophic_cardiomyopathy', 'Left_ventricular_noncompaction_10'] | GTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGT... | GTGCCCCCATGCTTCACAGTGTCCTCCAGGCTTCCTGACCACCCTGGGCGACCCCCCACCCCCGGCCAAACCTTATTAGGTGCCCCCTTGAGGTGATCATGTCCACCAAGTCTCCCAGGTCCCCGACAGTGCTCCCATGAGCCTCATCGCACTCCCTGGCCCCCAGGCCTCCGGGATCTCCCTGTGGGCCCCTGGCCCCTCCACCTGCCTCCCAGATTCCCCACACCCCTTGCTTGCAGCTCGTGTGTGCCTCTGGGTCTCATGGTGCCCTCTGTGTGCCTTGTGCCTTCTAGGGCTCTCCATGTCCCCTCTCTCCGTGT... | pathogenic | 176,104 |
Variant chromosome 11, position 47414926, gene SLC39A13 (solute carrier family 39 member 13): benign or pathogenic? Disease(s)? | benign | CAGCCTCCCGAGTAGCTGGGACCACAGGTGCGCGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGTCCAGGATGGTCTCGATCTCTTGACTTCTTGATCCACCCACCTCAGCCTCCCAATTATTATTATTATTTTTTTGAGAAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTACAGCTTTCACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGG... | CAGCCTCCCGAGTAGCTGGGACCACAGGTGCGCGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGTCCAGGATGGTCTCGATCTCTTGACTTCTTGATCCACCCACCTCAGCCTCCCAATTATTATTATTATTTTTTTGAGAAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTACAGCTTTCACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGG... | benign | 176,147 |
Does the genetic variant at chromosome 11, position 47438035, impacting gene RAPSN (receptor associated protein of the synapse), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | AACAACCCAACCCCATGTGTGGATTCTGTCCTCTCTCCACACAGGTTCTGACCTCTCACCCCAGGCCTTGCCCTGTGTGGACACTCTTCAGCCTGCTTAGATTCCAGTGCCTCACACCAGGTCACCCCTCCACACAGATGCTTGTCTTGCTCTGTCCCACTTAATGGTTTTAGAACTGGTTTAGGGAAGGGGGTGAACATGAGGAAGAGGGACCAGGCTCTACTCTTTTTTCTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCCCACCACAACTGCCACCTCCCAGGATCA... | AACAACCCAACCCCATGTGTGGATTCTGTCCTCTCTCCACACAGGTTCTGACCTCTCACCCCAGGCCTTGCCCTGTGTGGACACTCTTCAGCCTGCTTAGATTCCAGTGCCTCACACCAGGTCACCCCTCCACACAGATGCTTGTCTTGCTCTGTCCCACTTAATGGTTTTAGAACTGGTTTAGGGAAGGGGGTGAACATGAGGAAGAGGGACCAGGCTCTACTCTTTTTTCTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCCCACCACAACTGCCACCTCCCAGGATCA... | pathogenic | 176,160 |
Is the chromosome 11, position 47438776 variant in RAPSN (receptor associated protein of the synapse) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2', 'RAPSN-related_disorder'] | GGCTGGTCTTGAACTCCTGGGTTCAAGTGACCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGCAGGAACCACTGCACACAACCAGGCTCTACTCTTTATTGTTACAAAGAACTTATCACATTATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAG... | GGCTGGTCTTGAACTCCTGGGTTCAAGTGACCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGCAGGAACCACTGCACACAACCAGGCTCTACTCTTTATTGTTACAAAGAACTTATCACATTATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAG... | pathogenic | 176,165 |
Located at chromosome 11 position 47438813, the variant affecting gene RAPSN (receptor associated protein of the synapse)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_2'] | ACCTCGGCCTCCCAAAGTGCTGGAATTACAAGCAGGAACCACTGCACACAACCAGGCTCTACTCTTTATTGTTACAAAGAACTTATCACATTATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACT... | ACCTCGGCCTCCCAAAGTGCTGGAATTACAAGCAGGAACCACTGCACACAACCAGGCTCTACTCTTTATTGTTACAAAGAACTTATCACATTATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACT... | pathogenic | 176,167 |
The mutation impacting RAPSN (receptor associated protein of the synapse) on chromosome 11 at position 47438827: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | AAGTGCTGGAATTACAAGCAGGAACCACTGCACACAACCAGGCTCTACTCTTTATTGTTACAAAGAACTTATCACATTATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACTAAAAATAGAAAAAT... | AAGTGCTGGAATTACAAGCAGGAACCACTGCACACAACCAGGCTCTACTCTTTATTGTTACAAAGAACTTATCACATTATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACTAAAAATAGAAAAAT... | pathogenic | 176,168 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 47438852, gene RAPSN (receptor associated protein of the synapse): what disease(s) if pathogenic? | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | CACTGCACACAACCAGGCTCTACTCTTTATTGTTACAAAGAACTTATCACATTATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGCATGTTGATGCGTGTCT... | CACTGCACACAACCAGGCTCTACTCTTTATTGTTACAAAGAACTTATCACATTATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGCATGTTGATGCGTGTCT... | pathogenic | 176,169 |
Is the genetic change at chromosome 11, position 47438904, within gene RAPSN (receptor associated protein of the synapse) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | TATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGCATGTTGATGCGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGA... | TATATGAGCCTGCTAGGACTGTCATTAGGCAGGTGAGGCCTTTGGGAGGCAATTAGGTCATGAGGGTGGAGCCCTTATATATGGGATTAGTGCCCTTATTAAGGGACTGTGCCTGGCATGGTTGTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATCTTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACTTGGAGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGCATGTTGATGCGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGA... | pathogenic | 176,171 |
Gene RAPSN (receptor associated protein of the synapse) variant at chromosome 11, position 47441157—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | CACCCCCCAGAACTGCCTGGAGACCCCATGTTTTTGACAGATTTTATGACCAAACCTGGTGCACAGACTCCATAATAATTTGCGGCAGGGCGCCGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCAGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGTGAGTGCCTGTAATCCCTGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAAATC... | CACCCCCCAGAACTGCCTGGAGACCCCATGTTTTTGACAGATTTTATGACCAAACCTGGTGCACAGACTCCATAATAATTTGCGGCAGGGCGCCGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCAGGTGGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGTGAGTGCCTGTAATCCCTGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAAATC... | pathogenic | 176,172 |
A genetic alteration at chromosome 11, position 47441931, in gene RAPSN (receptor associated protein of the synapse)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAATGCAGGTGTGAGCCACCGCACCCGGCCTTGGTTTTGGTTTTTAGGCCATGCTAATCTTCTCTGTATTGTTCCAATTTCAGAATATGGGCTGCCAAAGCAAGCACTAGATACCATTATTAAATTTGGAACATGGGCTTTGTAGTTAAAACAGACAAGTTAGTAGGTGTGGGACCTTGGACGCCTCTTTGAGCCTCACTTTTCCTCATCTGTAAAATGGGGCTTGCTGTACTCACCTCACAG... | TTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAATGCAGGTGTGAGCCACCGCACCCGGCCTTGGTTTTGGTTTTTAGGCCATGCTAATCTTCTCTGTATTGTTCCAATTTCAGAATATGGGCTGCCAAAGCAAGCACTAGATACCATTATTAAATTTGGAACATGGGCTTTGTAGTTAAAACAGACAAGTTAGTAGGTGTGGGACCTTGGACGCCTCTTTGAGCCTCACTTTTCCTCATCTGTAAAATGGGGCTTGCTGTACTCACCTCACAG... | benign | 176,185 |
The chromosome 11, position 47442792 genetic variant in gene RAPSN (receptor associated protein of the synapse): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2', 'RAPSN-related_disorder'] | ATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCCCAAAATTCTAGGATTATAGATGTGAGCCACCATGTCCAGCCCACTGTTAGGGGTTTTAATCAACATCAGGAAGCTTCTGAGGAATTCTGCTATCCTCCAAGCTATGAAACTTCTGCCCTGCCCTCAGAAGTGCTGTGTGTGTGGCAGAGAAAGAGCCAGAGTATGGGGTTGGCTGCAGGCAGCTCCCAGCATCAGGAAGGGCT... | ATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCCCAAAATTCTAGGATTATAGATGTGAGCCACCATGTCCAGCCCACTGTTAGGGGTTTTAATCAACATCAGGAAGCTTCTGAGGAATTCTGCTATCCTCCAAGCTATGAAACTTCTGCCCTGCCCTCAGAAGTGCTGTGTGTGTGGCAGAGAAAGAGCCAGAGTATGGGGTTGGCTGCAGGCAGCTCCCAGCATCAGGAAGGGCT... | pathogenic | 176,190 |
Regarding the variant found on chromosome 11 at position 47448023 in gene RAPSN (receptor associated protein of the synapse): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | CTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGC... | CTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGC... | pathogenic | 176,201 |
Regarding the variant found on chromosome 11 at position 47448054 in gene RAPSN (receptor associated protein of the synapse): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | GCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGC... | GCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGC... | pathogenic | 176,203 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 47448132, gene RAPSN (receptor associated protein of the synapse). What disease(s) is it linked to if pathogenic? | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | ATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCT... | ATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCT... | pathogenic | 176,208 |
Gene RAPSN (receptor associated protein of the synapse) variant at chromosome position 47448141 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | TCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATG... | TCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATG... | pathogenic | 176,209 |
Is chromosome 11, position 47448812, gene RAPSN (receptor associated protein of the synapse) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Congenital_myasthenic_syndrome', 'Hydrops_fetalis'] | GCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCC... | GCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCC... | pathogenic | 176,215 |
Evaluate the clinical significance of the mutation at chromosome 11, position 47448918 in gene RAPSN (receptor associated protein of the synapse): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | ACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCAC... | ACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCAC... | pathogenic | 176,219 |
Variant at chromosome position 47448925, chromosome 11, gene RAPSN (receptor associated protein of the synapse): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_2'] | CCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCG... | CCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCG... | pathogenic | 176,221 |
Regarding the variant at chromosome 11 and position 47448953, affecting gene RAPSN (receptor associated protein of the synapse): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Congenital_myasthenic_syndrome_11', 'Fetal_akinesia_deformation_sequence_1', 'Fetal_akinesia_deformation_sequence_2'] | CTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATT... | CTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATT... | pathogenic | 176,223 |
Is chromosome 11, position 57599928, gene SERPING1 (serpin family G member 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['C1_inhibitor_deficiency', 'Hereditary_angioedema_type_1'] | CAGCCCCTCCCGCCTCAGGCCTGTTGTGCTCAGCCCCCCAGGACCTCCCCTCCCCCACGCCTCTGGCCTCATTGTTTGGTTAAAGCAGGACCCCCTCCCCCTCCCACCACCTCCCCTCCGACTGAACAGATGGACAGAGACCCGGGCCCACGGGGAGAGGAAGGGCCAGCCGGTGCCGGGAAAGGGAAGCGGTTTGGGGAAAACAAAACAGAGGGAGGAGCCAGGGAGAAGGTGGCCCCAGGAGGGAGGAGGAGGGAATTCGCTAAGAGGGACTGGGGCCTGAGACGGAATGGGGGCGGGCCCCGGGCGGGGTGGGGGCC... | CAGCCCCTCCCGCCTCAGGCCTGTTGTGCTCAGCCCCCCAGGACCTCCCCTCCCCCACGCCTCTGGCCTCATTGTTTGGTTAAAGCAGGACCCCCTCCCCCTCCCACCACCTCCCCTCCGACTGAACAGATGGACAGAGACCCGGGCCCACGGGGAGAGGAAGGGCCAGCCGGTGCCGGGAAAGGGAAGCGGTTTGGGGAAAACAAAACAGAGGGAGGAGCCAGGGAGAAGGTGGCCCCAGGAGGGAGGAGGAGGGAATTCGCTAAGAGGGACTGGGGCCTGAGACGGAATGGGGGCGGGCCCCGGGCGGGGTGGGGGCC... | pathogenic | 176,309 |
Evaluate this variant at chromosome 11, position 57600135, gene SERPING1 (serpin family G member 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_angioedema_type_1'] | ACAGAGGGAGGAGCCAGGGAGAAGGTGGCCCCAGGAGGGAGGAGGAGGGAATTCGCTAAGAGGGACTGGGGCCTGAGACGGAATGGGGGCGGGCCCCGGGCGGGGTGGGGGCCCCTGGGCTCCCAGGGTGGGAGCTGGCTCCGAGGCTGGCTGGCTCCGCAGGTCCGCTGACGTCGCCGCCCAGATGGCCTCCAGGCTGACCCTGCTGACCCTCCTGCTGCTGCTGCTGGCTGGGGTATGTGGTCCCTTGTGGGATGGGGGACGGGGGTGGAGACGGGAGGCGGGATGGTGCGGGGTGCGGGCGGTGGCTGAGGATTAAC... | ACAGAGGGAGGAGCCAGGGAGAAGGTGGCCCCAGGAGGGAGGAGGAGGGAATTCGCTAAGAGGGACTGGGGCCTGAGACGGAATGGGGGCGGGCCCCGGGCGGGGTGGGGGCCCCTGGGCTCCCAGGGTGGGAGCTGGCTCCGAGGCTGGCTGGCTCCGCAGGTCCGCTGACGTCGCCGCCCAGATGGCCTCCAGGCTGACCCTGCTGACCCTCCTGCTGCTGCTGCTGGCTGGGGTATGTGGTCCCTTGTGGGATGGGGGACGGGGGTGGAGACGGGAGGCGGGATGGTGCGGGGTGCGGGCGGTGGCTGAGGATTAAC... | pathogenic | 176,319 |
A mutation at chromosome position 57602080 on chromosome 11 in gene SERPING1 (serpin family G member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_angioedema_type_1'] | AACTCAACAACCAATTCAGCCACCAAAATAACAGCTAATACCACTGATGAACCCACCACACAACCCACCACAGAGCCCACCACCCAACCCACCATCCAACCCACCCAACCAACTACCCAGCTCCCAACAGATTCTCCTACCCAGCCCACTACTGGGTCCTTCTGCCCAGGACCTGTTACTCTCTGCTCTGACTTGGAGAGTCATTCAACAGAGGCCGTGTTGGGGGATGCTTTGGTAGATTTCTCCCTGAAGCTCTACCACGCCTTCTCAGCAATGAAGAAGGTGGAGACCAACATGGCCTTTTCCCCATTCAGCATCGC... | AACTCAACAACCAATTCAGCCACCAAAATAACAGCTAATACCACTGATGAACCCACCACACAACCCACCACAGAGCCCACCACCCAACCCACCATCCAACCCACCCAACCAACTACCCAGCTCCCAACAGATTCTCCTACCCAGCCCACTACTGGGTCCTTCTGCCCAGGACCTGTTACTCTCTGCTCTGACTTGGAGAGTCATTCAACAGAGGCCGTGTTGGGGGATGCTTTGGTAGATTTCTCCCTGAAGCTCTACCACGCCTTCTCAGCAATGAAGAAGGTGGAGACCAACATGGCCTTTTCCCCATTCAGCATCGC... | pathogenic | 176,333 |
Variant at chromosome 11, position 57606133, gene SERPING1 (serpin family G member 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_angioedema_type_1'] | TCGCACCACTGCATTCCAGCCTGGGTGACAGACCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAGAATACCCATATGCATTCATTAATATATAGGGCTAGAGGGCTAGAGAGCTATAGACATAAAATAGACAAAAAATTTTTTTGCTCATTTTTGGGTCAAAGGAGTCTTGGGACTCTAATTCTTTTAATTTTTGTGTTATGTGAATTTGTTATCATTTACATGTATTATGTTATTAAGTAGGTAATAATGATAATACTAATAATAAACTTACAAAACGATCCAATGTAGTTGTTTTCAGACTTTGTTCCTCGGAGC... | TCGCACCACTGCATTCCAGCCTGGGTGACAGACCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAGAATACCCATATGCATTCATTAATATATAGGGCTAGAGGGCTAGAGAGCTATAGACATAAAATAGACAAAAAATTTTTTTGCTCATTTTTGGGTCAAAGGAGTCTTGGGACTCTAATTCTTTTAATTTTTGTGTTATGTGAATTTGTTATCATTTACATGTATTATGTTATTAAGTAGGTAATAATGATAATACTAATAATAAACTTACAAAACGATCCAATGTAGTTGTTTTCAGACTTTGTTCCTCGGAGC... | pathogenic | 176,343 |
The chromosome 11, position 57611843 genetic variant in gene SERPING1 (serpin family G member 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_angioedema_type_1'] | TTACTCTATCACCCAGTCTGGAGTACAGTGACACAATCCTCACTTACTGTAACCTCAAGCTCCTTGGGATGAAGCAGTCCTCCCACCCTAGCCTCTTAAGTAGCTGAGATTCCAGGCATGAGCCACCTCACCCAGCTGATTTTCTTTTTAAACACATCTAATACCTGACAGGTCGTAATTACGACTGTGCTTGGCCATATCATCCTAACACCTAAAGCTCACTTGTAAACTGAAAATTAAATTTGAAGGGTGAATTAACTTCTAGCCAACATTCCAATATCATTCTCACATTTAATGAAATTATCCTACAACTTTGCTTA... | TTACTCTATCACCCAGTCTGGAGTACAGTGACACAATCCTCACTTACTGTAACCTCAAGCTCCTTGGGATGAAGCAGTCCTCCCACCCTAGCCTCTTAAGTAGCTGAGATTCCAGGCATGAGCCACCTCACCCAGCTGATTTTCTTTTTAAACACATCTAATACCTGACAGGTCGTAATTACGACTGTGCTTGGCCATATCATCCTAACACCTAAAGCTCACTTGTAAACTGAAAATTAAATTTGAAGGGTGAATTAACTTCTAGCCAACATTCCAATATCATTCTCACATTTAATGAAATTATCCTACAACTTTGCTTA... | pathogenic | 176,351 |
Is the chromosome 11, position 57614427 variant in SERPING1 (serpin family G member 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_angioedema_type_1'] | GAGAGGCAACAGAGACTCCATTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAT... | GAGAGGCAACAGAGACTCCATTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAT... | pathogenic | 176,360 |
Clinical classification of chromosome 11, position 59152449, gene FAM111A (FAM111 trypsin like peptidase A): benign or pathogenic? Disease(s) if pathogenic? | benign | ACACTTAATCTTTACAATATTCCTAGCATTGTTATTCCCAGTAGTAGTAAGGGGCATTGCTGGCATACGGACCCATATCTGCTGGTACCCATGCCATGATGAATATGACTTGGGAAAAATGTGTTTTTTAGACATAGGAAACAGACACTCTAATTTTTCACTGAGTTTCTACTATTTGATTAAGCCTCTTTATTTAATTCCTCTCCCCACCTCCACCCCCGTTTCTTAAGATAATGCGCTACAAAAATGGCAATCATAAATATAAAGTTTACAAAAAAGAATGTATACACTAGTCCAGTGGAAAATATAATTGGACTGGG... | ACACTTAATCTTTACAATATTCCTAGCATTGTTATTCCCAGTAGTAGTAAGGGGCATTGCTGGCATACGGACCCATATCTGCTGGTACCCATGCCATGATGAATATGACTTGGGAAAAATGTGTTTTTTAGACATAGGAAACAGACACTCTAATTTTTCACTGAGTTTCTACTATTTGATTAAGCCTCTTTATTTAATTCCTCTCCCCACCTCCACCCCCGTTTCTTAAGATAATGCGCTACAAAAATGGCAATCATAAATATAAAGTTTACAAAAAAGAATGTATACACTAGTCCAGTGGAAAATATAATTGGACTGGG... | benign | 176,407 |
Evaluate if the mutation on chromosome 11 at position 59152687 in FAM111A is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_dominant_Kenny-Caffey_syndrome', 'Osteocraniostenosis'] | CTACAAAAATGGCAATCATAAATATAAAGTTTACAAAAAAGAATGTATACACTAGTCCAGTGGAAAATATAATTGGACTGGGAATTGCAATTTTGATACTCACTTTATTTATTGGTTATTATGTGACCCTAGAAAAGACGTCTACAAGAAAAACTTTCTGTGCCTTAGTTTCTCCATCAAAAGGATAGATAAGTCATGTTTGTTCCTCCTTATTTTATAAACTTTGGGGATTAGTTGATGTAATAGAGAAAATAGAGTTCTTTTCATGATATATGCTGGGCAAATCAAAGTATTTATTGTTACAAATAACTACATTATAA... | CTACAAAAATGGCAATCATAAATATAAAGTTTACAAAAAAGAATGTATACACTAGTCCAGTGGAAAATATAATTGGACTGGGAATTGCAATTTTGATACTCACTTTATTTATTGGTTATTATGTGACCCTAGAAAAGACGTCTACAAGAAAAACTTTCTGTGCCTTAGTTTCTCCATCAAAAGGATAGATAAGTCATGTTTGTTCCTCCTTATTTTATAAACTTTGGGGATTAGTTGATGTAATAGAGAAAATAGAGTTCTTTTCATGATATATGCTGGGCAAATCAAAGTATTTATTGTTACAAATAACTACATTATAA... | pathogenic | 176,409 |
The genetic variant at chromosome 11, position 61367927, affecting gene TMEM138 (transmembrane protein 138): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Joubert_syndrome_16'] | CATGTCATTCAGGTCCCAAAACCCATGTTATCTCTGTGAGGGTTTAAGATGTCAGATGCCTATCTCACAACAAAGGACAGGCCTCGTGGTGTCCCTCAGGACATAGTACCTGCTCTTGGGTCCTCACACAGGCCTTCATTGGTTGTACTTTTTTTTATGTCTACAGCATCCAGGATATTGCAGTCCTCTTCAACATCATCATCATTTTCCTCATGTTCTTCAACACCTTCGTCTTCCAGGCTGGCCTGGTCAACCTCCTATTCCATAAGTTCAAAGGGACCATCATCCTGACAGCTGTGTACTTTGCCCTCAGCATCTCC... | CATGTCATTCAGGTCCCAAAACCCATGTTATCTCTGTGAGGGTTTAAGATGTCAGATGCCTATCTCACAACAAAGGACAGGCCTCGTGGTGTCCCTCAGGACATAGTACCTGCTCTTGGGTCCTCACACAGGCCTTCATTGGTTGTACTTTTTTTTATGTCTACAGCATCCAGGATATTGCAGTCCTCTTCAACATCATCATCATTTTCCTCATGTTCTTCAACACCTTCGTCTTCCAGGCTGGCCTGGTCAACCTCCTATTCCATAAGTTCAAAGGGACCATCATCCTGACAGCTGTGTACTTTGCCCTCAGCATCTCC... | pathogenic | 176,508 |
The chromosome 11, position 61367928 genetic variant in gene TMEM138 (transmembrane protein 138): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Joubert_syndrome_16'] | ATGTCATTCAGGTCCCAAAACCCATGTTATCTCTGTGAGGGTTTAAGATGTCAGATGCCTATCTCACAACAAAGGACAGGCCTCGTGGTGTCCCTCAGGACATAGTACCTGCTCTTGGGTCCTCACACAGGCCTTCATTGGTTGTACTTTTTTTTATGTCTACAGCATCCAGGATATTGCAGTCCTCTTCAACATCATCATCATTTTCCTCATGTTCTTCAACACCTTCGTCTTCCAGGCTGGCCTGGTCAACCTCCTATTCCATAAGTTCAAAGGGACCATCATCCTGACAGCTGTGTACTTTGCCCTCAGCATCTCCC... | ATGTCATTCAGGTCCCAAAACCCATGTTATCTCTGTGAGGGTTTAAGATGTCAGATGCCTATCTCACAACAAAGGACAGGCCTCGTGGTGTCCCTCAGGACATAGTACCTGCTCTTGGGTCCTCACACAGGCCTTCATTGGTTGTACTTTTTTTTATGTCTACAGCATCCAGGATATTGCAGTCCTCTTCAACATCATCATCATTTTCCTCATGTTCTTCAACACCTTCGTCTTCCAGGCTGGCCTGGTCAACCTCCTATTCCATAAGTTCAAAGGGACCATCATCCTGACAGCTGTGTACTTTGCCCTCAGCATCTCCC... | pathogenic | 176,509 |
Located at chromosome 11 position 61393215, the variant affecting gene TMEM216 (transmembrane protein 216)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_2', 'Meckel_syndrome,_type_2'] | GCCAGGGGTACAGCACTTTGCTTAAAGCTTAGTCACTCTTGGCCGGGGGCATTAATCACACCTGTAATCCCAGCACTTTGGGAGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGTCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATATTTAGCCGGGTGTGGTGGGGGGCACCTGTAATCCCCGCTACTTGGGAGGCTGAGACTGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGACCAGAGATAGCGCCATTGCACTCCAGCCT... | GCCAGGGGTACAGCACTTTGCTTAAAGCTTAGTCACTCTTGGCCGGGGGCATTAATCACACCTGTAATCCCAGCACTTTGGGAGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGTCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATATTTAGCCGGGTGTGGTGGGGGGCACCTGTAATCCCCGCTACTTGGGAGGCTGAGACTGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGACCAGAGATAGCGCCATTGCACTCCAGCCT... | pathogenic | 176,522 |
Chromosome 11, position 61393261, gene TMEM216 (transmembrane protein 216): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_2', 'Meckel_syndrome,_type_2'] | GGGCATTAATCACACCTGTAATCCCAGCACTTTGGGAGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGTCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATATTTAGCCGGGTGTGGTGGGGGGCACCTGTAATCCCCGCTACTTGGGAGGCTGAGACTGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGACCAGAGATAGCGCCATTGCACTCCAGCCTGGGTTACAAGAGCAAAACTCCGTCTCAAAAATAAAATGAAATAAAT... | GGGCATTAATCACACCTGTAATCCCAGCACTTTGGGAGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGTCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATATTTAGCCGGGTGTGGTGGGGGGCACCTGTAATCCCCGCTACTTGGGAGGCTGAGACTGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGACCAGAGATAGCGCCATTGCACTCCAGCCTGGGTTACAAGAGCAAAACTCCGTCTCAAAAATAAAATGAAATAAAT... | pathogenic | 176,525 |
Variant chromosome 11, position 61393937, gene TMEM216 (transmembrane protein 216): benign or pathogenic? Disease(s)? | pathogenic; ['Joubert_syndrome_2'] | GCCATGTTGGCCAGGCTGATTTCGAACTCCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAG... | GCCATGTTGGCCAGGCTGATTTCGAACTCCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAG... | pathogenic | 176,529 |
Regarding the variant found on chromosome 11 at position 61393968 in gene TMEM216 (transmembrane protein 216): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Joubert_syndrome_2', 'Meckel_syndrome,_type_2'] | GACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAA... | GACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAA... | pathogenic | 176,535 |
The mutation impacting TMEM216 (transmembrane protein 216) on chromosome 11 at position 61393969: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_2', 'Meckel_syndrome,_type_2'] | ACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAAC... | ACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAAC... | pathogenic | 176,536 |
Is the genetic variant on chromosome 11, position 61398259, gene TMEM216 (transmembrane protein 216), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGCAGATCACGAGTTCAGGAGATCGAGACCATCCTGGCCCACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTGCACCACTGCACTCTAGCCTGGCGAGAGAGCTAGACTCTGTCTCAAAAAATTAAAAAAAATTAAAAAGAACAGTTAAGGCCAGGTGCAGTGGCTCAC... | TGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGCAGATCACGAGTTCAGGAGATCGAGACCATCCTGGCCCACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTGCACCACTGCACTCTAGCCTGGCGAGAGAGCTAGACTCTGTCTCAAAAAATTAAAAAAAATTAAAAAGAACAGTTAAGGCCAGGTGCAGTGGCTCAC... | benign | 176,546 |
The genetic variant at chromosome 11, position 61430152, affecting gene SDHAF2 (succinate dehydrogenase complex assembly factor 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_2'] | GAAATTTTGGAACATTCTTGAGAATTGACCTCAAGACTGAAAAACTTAACTGCATGGAAGATTATTTCTTTGAGAGAATTTTTCTTGTGTTTTTAAGAGTCAGGGTCTTGTTCTGTTGCCCAGGATAGAGTGCAGCGGCCCAATCATGGCTCACTGCAGCCTTGAATTCCTGGGCTCAGGGAGTACCTCTTGCCTCACTCTCCAGAGTAGATGGGACTACAGGCACAAGCCACCATATCTCGTTGTTGTTTTTTTTTACATTTTTGTAGACTGGGTCTTGGTATGTTGCCCTGGCTGGTATTGAACTTCTGGTCTTAAGT... | GAAATTTTGGAACATTCTTGAGAATTGACCTCAAGACTGAAAAACTTAACTGCATGGAAGATTATTTCTTTGAGAGAATTTTTCTTGTGTTTTTAAGAGTCAGGGTCTTGTTCTGTTGCCCAGGATAGAGTGCAGCGGCCCAATCATGGCTCACTGCAGCCTTGAATTCCTGGGCTCAGGGAGTACCTCTTGCCTCACTCTCCAGAGTAGATGGGACTACAGGCACAAGCCACCATATCTCGTTGTTGTTTTTTTTTACATTTTTGTAGACTGGGTCTTGGTATGTTGCCCTGGCTGGTATTGAACTTCTGGTCTTAAGT... | pathogenic | 176,553 |
Variant at chromosome 11, position 61437625, gene SDHAF2 (succinate dehydrogenase complex assembly factor 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_2'] | TTTACTGAGGATGTGTCTTTTCTGGACTTGCGGATGTAAATTCCCATTTAGAGGGATTTGCCGGTTTCCTTTTTCAGGAGCCCATAATCTCTTGCTCCCTCTAGTGTCTGCGTATGATACTGCAGTTTCTCTGGAGCTGCTACAAGTCTCCCAGCTGTCGGTGGCCTCCAGACTTTTAGAGTATGCCATGTCCCATCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGG... | TTTACTGAGGATGTGTCTTTTCTGGACTTGCGGATGTAAATTCCCATTTAGAGGGATTTGCCGGTTTCCTTTTTCAGGAGCCCATAATCTCTTGCTCCCTCTAGTGTCTGCGTATGATACTGCAGTTTCTCTGGAGCTGCTACAAGTCTCCCAGCTGTCGGTGGCCTCCAGACTTTTAGAGTATGCCATGTCCCATCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGG... | pathogenic | 176,568 |
The chromosome 11, position 61437783 genetic variant in gene SDHAF2 (succinate dehydrogenase complex assembly factor 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma'] | CGGTGGCCTCCAGACTTTTAGAGTATGCCATGTCCCATCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCG... | CGGTGGCCTCCAGACTTTTAGAGTATGCCATGTCCCATCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCG... | pathogenic | 176,587 |
A mutation at chromosome position 61437814 on chromosome 11 in gene SDHAF2 (succinate dehydrogenase complex assembly factor 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_2'] | GTCCCATCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTG... | GTCCCATCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTG... | pathogenic | 176,591 |
Considering the variant on chromosome 11, location 61438005, involving gene SDHAF2 (succinate dehydrogenase complex assembly factor 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_2'] | TACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCA... | TACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCA... | pathogenic | 176,599 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 61438036, gene SDHAF2 (succinate dehydrogenase complex assembly factor 2): what disease(s) if pathogenic? | pathogenic; ['Hereditary_pheochromocytoma-paraganglioma'] | GGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGA... | GGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGA... | pathogenic | 176,603 |
Gene SDHAF2 (succinate dehydrogenase complex assembly factor 2) variant at chromosome 11, position 61438048—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_2'] | TAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAA... | TAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAA... | pathogenic | 176,606 |
Evaluate the clinical significance of the mutation at chromosome 11, position 61438055 in gene SDHAF2 (succinate dehydrogenase complex assembly factor 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma'] | AGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAA... | AGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAA... | pathogenic | 176,609 |
Evaluate if the mutation on chromosome 11 at position 61771540 in MYRF (myelin regulatory factor) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiac-urogenital_syndrome', 'Non-immune_hydrops_fetalis'] | GGGGAGCCTGGCCCTGCCTCTGAGCAAGTATCCCCGCGGTGATGCCACCCGCCTGCCCGCCTGCGCCATCATGGACGCACCCTTCGGCGGTAAGTGGGTGGCTGGGGAAGGCCGTGGGTGCAGCCTGGGTGCAGGCTTCCCAGGCCGGGCCCACCTCACCTTAGAGGGTGCTCAGGGGTGCCCTGGCCCCCAGGTGGCCAAGAGCAGAACCACCGCGGGAGCAGGCTCCCCGCAGTCCGGATTGGGGTCAAGAGTTCTGTTTATCTTACCAAAAACATCCCTGGAATGCCTCCTGGGGAACAAAGGGAGCTGGGGCCTCC... | GGGGAGCCTGGCCCTGCCTCTGAGCAAGTATCCCCGCGGTGATGCCACCCGCCTGCCCGCCTGCGCCATCATGGACGCACCCTTCGGCGGTAAGTGGGTGGCTGGGGAAGGCCGTGGGTGCAGCCTGGGTGCAGGCTTCCCAGGCCGGGCCCACCTCACCTTAGAGGGTGCTCAGGGGTGCCCTGGCCCCCAGGTGGCCAAGAGCAGAACCACCGCGGGAGCAGGCTCCCCGCAGTCCGGATTGGGGTCAAGAGTTCTGTTTATCTTACCAAAAACATCCCTGGAATGCCTCCTGGGGAACAAAGGGAGCTGGGGCCTCC... | pathogenic | 176,645 |
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