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 6, location 7580764, gene DSP (desmoplakin): what disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | GGTTACTTCCATGCTCCAATACGCTGCTTTAAATGAACTTAAGTAATAGTCATAATATTGCAACAACTTTGCCAAACAAAAGTCACTTGATTTAATGTTTGGTTAAGGAATTTGCTTTATTTCTCTGTGTTAAAGATAACATCTTGGACTAGGTATATTTGAATTTTTTATATTCAGTGATTGTTCCCTTTATTCCTCATTTATGATACTTAAATTGAGATTATATGTAAACTTATTTTAATGTAAACTTGAAATAAAGGGAATATAATTTATGAAATCATAAGCTTTTGATTTTGAAAGAAATTACCTCATTTTACAGA... | GGTTACTTCCATGCTCCAATACGCTGCTTTAAATGAACTTAAGTAATAGTCATAATATTGCAACAACTTTGCCAAACAAAAGTCACTTGATTTAATGTTTGGTTAAGGAATTTGCTTTATTTCTCTGTGTTAAAGATAACATCTTGGACTAGGTATATTTGAATTTTTTATATTCAGTGATTGTTCCCTTTATTCCTCATTTATGATACTTAAATTGAGATTATATGTAAACTTATTTTAATGTAAACTTGAAATAAAGGGAATATAATTTATGAAATCATAAGCTTTTGATTTTGAAAGAAATTACCTCATTTTACAGA... | pathogenic | 105,404 |
Variant at chromosome 6, position 7580872, gene DSP (desmoplakin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy'] | AATTTGCTTTATTTCTCTGTGTTAAAGATAACATCTTGGACTAGGTATATTTGAATTTTTTATATTCAGTGATTGTTCCCTTTATTCCTCATTTATGATACTTAAATTGAGATTATATGTAAACTTATTTTAATGTAAACTTGAAATAAAGGGAATATAATTTATGAAATCATAAGCTTTTGATTTTGAAAGAAATTACCTCATTTTACAGATGAGGTAGCTCAGACTCAAAGATAATATATCATTTGCTAAGAGCATATGAGCAGCTGGTGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCAC... | AATTTGCTTTATTTCTCTGTGTTAAAGATAACATCTTGGACTAGGTATATTTGAATTTTTTATATTCAGTGATTGTTCCCTTTATTCCTCATTTATGATACTTAAATTGAGATTATATGTAAACTTATTTTAATGTAAACTTGAAATAAAGGGAATATAATTTATGAAATCATAAGCTTTTGATTTTGAAAGAAATTACCTCATTTTACAGATGAGGTAGCTCAGACTCAAAGATAATATATCATTTGCTAAGAGCATATGAGCAGCTGGTGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCAC... | pathogenic | 105,412 |
Regarding the variant at chromosome 6 and position 7581044, affecting gene DSP (desmoplakin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | TAAGCTTTTGATTTTGAAAGAAATTACCTCATTTTACAGATGAGGTAGCTCAGACTCAAAGATAATATATCATTTGCTAAGAGCATATGAGCAGCTGGTGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAG... | TAAGCTTTTGATTTTGAAAGAAATTACCTCATTTTACAGATGAGGTAGCTCAGACTCAAAGATAATATATCATTTGCTAAGAGCATATGAGCAGCTGGTGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAG... | pathogenic | 105,433 |
Gene DSP (desmoplakin) variant at chromosome position 7581063 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy'] | GAAATTACCTCATTTTACAGATGAGGTAGCTCAGACTCAAAGATAATATATCATTTGCTAAGAGCATATGAGCAGCTGGTGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAAC... | GAAATTACCTCATTTTACAGATGAGGTAGCTCAGACTCAAAGATAATATATCATTTGCTAAGAGCATATGAGCAGCTGGTGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAAC... | pathogenic | 105,434 |
A mutation at chromosome position 7581072 on chromosome 6 in gene DSP (desmoplakin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis', 'Cardiovascular_phenotype', 'Keratosis_palmoplantaris_striata_2', ... | TCATTTTACAGATGAGGTAGCTCAGACTCAAAGATAATATATCATTTGCTAAGAGCATATGAGCAGCTGGTGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAAC... | TCATTTTACAGATGAGGTAGCTCAGACTCAAAGATAATATATCATTTGCTAAGAGCATATGAGCAGCTGGTGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAAC... | pathogenic | 105,436 |
Clinical significance of chromosome 6, position 7581142, gene DSP (desmoplakin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy'] | TGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGA... | TGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGA... | pathogenic | 105,441 |
Variant in gene DSP (desmoplakin), located at chromosome 6 position 7581142: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis', 'Keratosis_palmoplantaris_striata_2', 'Lethal_acantholytic_epidermolysis_bullosa'] | TGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGA... | TGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGA... | pathogenic | 105,442 |
A genetic variant at chromosome 6, position 7581311, affecting gene DSP (desmoplakin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | TTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAG... | TTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAG... | pathogenic | 105,452 |
Is the chromosome 6, position 7581510 variant in DSP (desmoplakin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | AGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAAC... | AGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAAC... | pathogenic | 105,472 |
Variant in gene DSP (desmoplakin), located at chromosome 6 position 7581510: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype', 'Familial_isolated_arrhythmogenic_right_ventricular_dysplasia'] | AGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAAC... | AGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAAC... | pathogenic | 105,473 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 7582695, gene DSP (desmoplakin): what disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | TAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAG... | TAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAG... | pathogenic | 105,478 |
Mutation found at chromosome 6 position 7582719, gene DSP (desmoplakin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | CAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGC... | CAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGC... | pathogenic | 105,480 |
Determine if the mutation at chromosome 6, position 7582922 in gene DSP (desmoplakin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | TCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTT... | TCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTT... | pathogenic | 105,492 |
Benign or pathogenic: chromosome 6, position 7582940, gene DSP (desmoplakin) variant? Disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy', 'Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis', 'Cardiovascular_phenotype', 'DSP-related_disorder', 'Familial_isolated_arrhythmogenic_right_ventric... | CTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAG... | CTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAG... | pathogenic | 105,493 |
A mutation at chromosome position 7583006 on chromosome 6 in gene DSP (desmoplakin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | AAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTT... | AAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTT... | pathogenic | 105,497 |
Benign or pathogenic: chromosome 6, position 7583031, gene DSP (desmoplakin) variant? Disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | TGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAG... | TGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAG... | pathogenic | 105,500 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 7583053, gene DSP (desmoplakin): what disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Cardiomyopathy'] | GAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGA... | GAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGA... | pathogenic | 105,502 |
Clinically, how would you classify the variant at chromosome 6, position 7583201, gene DSP (desmoplakin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy'] | AGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAA... | AGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAA... | pathogenic | 105,515 |
Does the genetic variant at chromosome 6, position 7583247, impacting gene DSP (desmoplakin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | AGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAG... | AGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAG... | pathogenic | 105,517 |
Gene mutation in DSP (desmoplakin) at chromosome 6, position 7583351—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis', 'Cardiovascular_phenotype', 'Keratosis_palmoplantaris_striata_2', 'Lethal_acantholytic_epidermolysis_bullosa', 'Wooll... | AGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACA... | AGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACA... | pathogenic | 105,522 |
Mutation at chromosome 6, position 7583530, within DSP (desmoplakin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiac_arrhythmia'] | GGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCT... | GGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCT... | pathogenic | 105,534 |
Is the chromosome 6, position 7583571 variant in DSP (desmoplakin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy'] | AAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAAC... | AAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAAC... | pathogenic | 105,537 |
Regarding the variant found on chromosome 6 at position 7583579 in gene DSP (desmoplakin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | AGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCG... | AGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCG... | pathogenic | 105,538 |
A genetic variant at chromosome 6, position 7583604, affecting gene DSP (desmoplakin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cardiovascular_phenotype'] | AGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAG... | AGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAG... | pathogenic | 105,540 |
Does the variant impacting DSP (desmoplakin) on chromosome 6, position 7583654, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Primary_dilated_cardiomyopathy'] | TCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCT... | TCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCT... | pathogenic | 105,547 |
Evaluate if the mutation on chromosome 6 at position 7583655 in DSP (desmoplakin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | CAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTT... | CAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTT... | pathogenic | 105,548 |
Mutation at chromosome 6, position 7583713, within DSP (desmoplakin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | GCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTG... | GCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTG... | pathogenic | 105,554 |
The mutation in gene DSP (desmoplakin) at chromosome 6, position 7583727—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | TAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGAT... | TAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGAT... | pathogenic | 105,557 |
Gene DSP (desmoplakin) variant at chromosome position 7583763 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy', 'Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis', 'Cardiovascular_phenotype', 'Keratosis_palmoplantaris_striata_2', 'Lethal_acantholytic_epidermolysi... | TAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATC... | TAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATC... | pathogenic | 105,562 |
Evaluate the clinical significance of the mutation at chromosome 6, position 7583772 in gene DSP (desmoplakin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | TAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTA... | TAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTA... | pathogenic | 105,563 |
Variant in gene DSP (desmoplakin), located at chromosome 6 position 7583775: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | CTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTG... | CTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTG... | pathogenic | 105,564 |
Regarding the variant found on chromosome 6 at position 7583797 in gene DSP (desmoplakin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Cardiomyopathy'] | CTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTC... | CTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTC... | pathogenic | 105,566 |
Located at chromosome 6 position 7584197, the variant affecting gene DSP (desmoplakin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | TGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCC... | TGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCC... | pathogenic | 105,596 |
Clinically, how would you classify the variant at chromosome 6, position 7584211, gene DSP (desmoplakin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | TGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAA... | TGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAA... | pathogenic | 105,599 |
Is chromosome 6, position 7584336, gene DSP (desmoplakin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | CTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACAT... | CTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACAT... | pathogenic | 105,607 |
Regarding the variant at chromosome 6 and position 7584438, affecting gene DSP (desmoplakin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Cardiovascular_phenotype'] | AACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCT... | AACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCT... | pathogenic | 105,618 |
Clinical classification of chromosome 6, position 7584473, gene DSP (desmoplakin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | TATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAA... | TATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAA... | pathogenic | 105,621 |
Does the variant on chromosome 6 at location 7584504 affecting gene DSP (desmoplakin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Lethal_acantholytic_epidermolysis_bullosa'] | ACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCG... | ACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCG... | pathogenic | 105,624 |
Does the variant impacting DSP (desmoplakin) on chromosome 6, position 7584631, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiac_arrhythmia'] | AGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAG... | AGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAG... | pathogenic | 105,630 |
Is the variant located on chromosome 6 at position 7584730, gene DSP (desmoplakin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | AGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGC... | AGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGC... | pathogenic | 105,634 |
Variant chromosome 6, position 7584748, gene DSP (desmoplakin): benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype'] | AGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGAT... | AGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGAT... | pathogenic | 105,636 |
Gene DSP (desmoplakin) variant at chromosome position 7584820 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | ATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGA... | ATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGA... | pathogenic | 105,642 |
The genetic variant at chromosome 6, position 7584829, affecting gene DSP (desmoplakin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype', 'Primary_dilated_cardiomyopathy'] | AATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCA... | AATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCA... | pathogenic | 105,644 |
Clinical classification of chromosome 6, position 7584883, gene DSP (desmoplakin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | AGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCC... | AGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCC... | pathogenic | 105,648 |
Benign or pathogenic: chromosome 6, position 7585028, gene DSP (desmoplakin) variant? Disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy'] | CAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTC... | CAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTC... | pathogenic | 105,662 |
Variant in DSP (desmoplakin), chromosome 6, position 7585132—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | AACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATG... | AACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATG... | pathogenic | 105,667 |
A genetic variant on chromosome 6, position 7585134, affects the gene DSP (desmoplakin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | CTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCT... | CTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCT... | pathogenic | 105,668 |
A genetic alteration at chromosome 6, position 7585159, in gene DSP (desmoplakin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma'] | ATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGT... | ATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGT... | pathogenic | 105,670 |
A genetic variant at chromosome 6, position 7585228, affecting gene DSP (desmoplakin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | AGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGAC... | AGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGAC... | pathogenic | 105,674 |
Regarding the variant found on chromosome 6 at position 7585275 in gene DSP (desmoplakin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | ACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGG... | ACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGG... | pathogenic | 105,679 |
Mutation at chromosome 6, position 7585336, within DSP (desmoplakin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis'] | AGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTG... | AGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTG... | pathogenic | 105,681 |
Is the genetic mutation found on chromosome 6 at position 7585371, within the gene DSP (desmoplakin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGC... | GCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGC... | benign | 105,686 |
A genetic variant on chromosome 6, position 7585405, affects the gene DSP (desmoplakin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | TAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTG... | TAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTG... | pathogenic | 105,692 |
Variant chromosome 6, position 7585448, gene DSP (desmoplakin): benign or pathogenic? Disease(s)? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | CATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGC... | CATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGC... | pathogenic | 105,697 |
Located at chromosome 6 position 7585731, the variant affecting gene DSP (desmoplakin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGG... | GTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGG... | benign | 105,726 |
A genetic variant on chromosome 6, position 7585746, affects the gene DSP (desmoplakin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGA... | GATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGA... | benign | 105,730 |
Regarding the variant found on chromosome 6 at position 7585749 in gene DSP (desmoplakin): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTT... | GTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTT... | benign | 105,731 |
The genetic variant at chromosome 6, position 7585755, affecting gene DSP (desmoplakin): benign or pathogenic? Disease name(s) if pathogenic? | benign | TTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCA... | TTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCA... | benign | 105,735 |
A genetic variant at chromosome 6, position 7585777, affecting gene DSP (desmoplakin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGC... | GAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGC... | benign | 105,741 |
Evaluate this variant at chromosome 6, position 7585788, gene DSP (desmoplakin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGA... | CGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGA... | benign | 105,743 |
Gene DSP (desmoplakin) variant at chromosome 6, position 7586153—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAG... | CTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAG... | benign | 105,754 |
Does the variant on chromosome 6 at location 10398692 affecting gene TFAP2A (transcription factor AP-2 alpha) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Abnormality_of_visual_evoked_potentials', 'Amblyopia', 'Branchiooculofacial_syndrome', 'EEG_abnormality', 'Epicanthus', 'Esotropia', 'High_palate', 'Hypertelorism', 'Iris_coloboma', 'Lens_subluxation', 'Low-set_ears', 'Microphthalmia', 'Nystagmus', 'Short_neck'] | TGGTTTCCAAAACACAAATGAAAACCTAAAGGATCAACATAAATAAAATAAAACTTTATTTTTAATAATAAAATTAATGTTTCTAGTAAGGAAAAGACAGTATGTCATTCCTTTAGCAGTACAAACAATCTTTTATCCAAAAGAATACATTGGGTTTTATTGTGTCATTTGTCTGAATACAGACACAGTGGAATATCTAAATGATACCCTGCTCTGAACTCCAAGTTGAAAGTAAGTTTTTATTATACTTGAGGGAAACAATGGGTTCAGCTGCTTATTGCAAGGAGCAATTGCCAAGGGAGAGTTAAACTCAATTACTG... | TGGTTTCCAAAACACAAATGAAAACCTAAAGGATCAACATAAATAAAATAAAACTTTATTTTTAATAATAAAATTAATGTTTCTAGTAAGGAAAAGACAGTATGTCATTCCTTTAGCAGTACAAACAATCTTTTATCCAAAAGAATACATTGGGTTTTATTGTGTCATTTGTCTGAATACAGACACAGTGGAATATCTAAATGATACCCTGCTCTGAACTCCAAGTTGAAAGTAAGTTTTTATTATACTTGAGGGAAACAATGGGTTCAGCTGCTTATTGCAAGGAGCAATTGCCAAGGGAGAGTTAAACTCAATTACTG... | pathogenic | 105,761 |
Classify the chromosome 6 variant at position 10770199 affecting gene MAK (male germ cell associated kinase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Isolated_macular_dystrophy', 'Retinal_dystrophy'] | AATAATTAATATATAAAGGCCTTCAATATCTTACAAAAATATTTTTTAAAAGACCCACTCTTGATTTATAAGAGTAGATACCTAGGTAACAAAATAATTTGAAACATTATGATTTTCTGCCTTTATATTAAAAATATAAAATGTGGCCGGGTGCAGTGGTTCATGCCTGTAATCCCAGCACTTGTGGGAGGCTGAGGCAGGTGAATCATTTGAGGTCACGAGTTCAAGACCAGCCTGACCAACACAGTGAAACTGCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTG... | AATAATTAATATATAAAGGCCTTCAATATCTTACAAAAATATTTTTTAAAAGACCCACTCTTGATTTATAAGAGTAGATACCTAGGTAACAAAATAATTTGAAACATTATGATTTTCTGCCTTTATATTAAAAATATAAAATGTGGCCGGGTGCAGTGGTTCATGCCTGTAATCCCAGCACTTGTGGGAGGCTGAGGCAGGTGAATCATTTGAGGTCACGAGTTCAAGACCAGCCTGACCAACACAGTGAAACTGCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTG... | pathogenic | 105,805 |
Variant at chromosome 6, position 10784521, gene MAK (male germ cell associated kinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic | CACCGTGCCTTCTGTTTTCTCTCCCATTCATCTCTAAACCCTCTACTTGCTTTCATTTTTTTTCTTTTCCCCAATTACTAACAGCAAGAGAGGGTCCCAACTGGATTTTTTTTTTTTTTTTTTTTTGACACAGTCTTGCTCTGTTGCCCATGCTGGAGTGCAGCGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGATGCCCACCACCACGTCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTG... | CACCGTGCCTTCTGTTTTCTCTCCCATTCATCTCTAAACCCTCTACTTGCTTTCATTTTTTTTCTTTTCCCCAATTACTAACAGCAAGAGAGGGTCCCAACTGGATTTTTTTTTTTTTTTTTTTTTGACACAGTCTTGCTCTGTTGCCCATGCTGGAGTGCAGCGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGATGCCCACCACCACGTCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTG... | pathogenic | 105,811 |
Classify the chromosome 6 variant at position 10784531 affecting gene MAK (male germ cell associated kinase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_62'] | TCTGTTTTCTCTCCCATTCATCTCTAAACCCTCTACTTGCTTTCATTTTTTTTCTTTTCCCCAATTACTAACAGCAAGAGAGGGTCCCAACTGGATTTTTTTTTTTTTTTTTTTTTGACACAGTCTTGCTCTGTTGCCCATGCTGGAGTGCAGCGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGATGCCCACCACCACGTCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACT... | TCTGTTTTCTCTCCCATTCATCTCTAAACCCTCTACTTGCTTTCATTTTTTTTCTTTTCCCCAATTACTAACAGCAAGAGAGGGTCCCAACTGGATTTTTTTTTTTTTTTTTTTTTGACACAGTCTTGCTCTGTTGCCCATGCTGGAGTGCAGCGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGATGCCCACCACCACGTCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACT... | pathogenic | 105,812 |
Assess the variant on chromosome 6, position 10791696, impacting MAK (male germ cell associated kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Retinitis_pigmentosa_62'] | GTGCTCTCAAAAATATCTTTTTTTTGTTTTGAGACGGAGTCTCACTCTCACTCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACCACAACCTCTGCCTCCTGGGTTCAAGTTTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAAAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGAACTCAGGTGATCCACCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATTGAGCCTCCGCACCCAGCCCAAAATATCTT... | GTGCTCTCAAAAATATCTTTTTTTTGTTTTGAGACGGAGTCTCACTCTCACTCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACCACAACCTCTGCCTCCTGGGTTCAAGTTTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAAAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGAACTCAGGTGATCCACCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATTGAGCCTCCGCACCCAGCCCAAAATATCTT... | pathogenic | 105,813 |
Variant at chromosome position 10791768, chromosome 6, gene MAK (male germ cell associated kinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Retinitis_pigmentosa_62'] | CAATCTCGGCTCACCACAACCTCTGCCTCCTGGGTTCAAGTTTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAAAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGAACTCAGGTGATCCACCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATTGAGCCTCCGCACCCAGCCCAAAATATCTTATTGCACCGTACTGCAGGTAAATGAAACCATGGAAGGTGAAACTGCAGATTCAGGGGACTACTGTACCCAAT... | CAATCTCGGCTCACCACAACCTCTGCCTCCTGGGTTCAAGTTTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAAAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGAACTCAGGTGATCCACCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATTGAGCCTCCGCACCCAGCCCAAAATATCTTATTGCACCGTACTGCAGGTAAATGAAACCATGGAAGGTGAAACTGCAGATTCAGGGGACTACTGTACCCAAT... | pathogenic | 105,814 |
Does the genetic variant at chromosome 6, position 10791794, impacting gene MAK (male germ cell associated kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic | CTCCTGGGTTCAAGTTTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAAAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGAACTCAGGTGATCCACCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATTGAGCCTCCGCACCCAGCCCAAAATATCTTATTGCACCGTACTGCAGGTAAATGAAACCATGGAAGGTGAAACTGCAGATTCAGGGGACTACTGTACCCAATTTCTGTAAGACAAGAACCAACAGAAA... | CTCCTGGGTTCAAGTTTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAAAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGAACTCAGGTGATCCACCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATTGAGCCTCCGCACCCAGCCCAAAATATCTTATTGCACCGTACTGCAGGTAAATGAAACCATGGAAGGTGAAACTGCAGATTCAGGGGACTACTGTACCCAATTTCTGTAAGACAAGAACCAACAGAAA... | pathogenic | 105,815 |
Variant chromosome 6, position 10796052, gene MAK (male germ cell associated kinase): benign or pathogenic? Disease(s)? | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_62'] | AGAGTTATCAGTCATTGGTGAATGGTGTTATATGCAGAGCCCTTAAGGGAATTGGAGAAGTTTCTCTAGAGAAAAGGGCAGATAATATAAGGGCTATTTTCAAATATCTAAAAGGCTGCCTTTCTAGAAAAGTGATTAGCCTTCATTAAAAGCTAGAAAACCAGATTTTACCCAGTATTAAGGAAGAACTTTCTAATATTCAGAACTGTTCCAAAGATAAAAGTGGACTCCCCAGGACCCCAGAGGTGGTTTACAAGTCATGTGGGCAATTATTCATTCCTTCATTCACTGAACAAATATCTACTGAGAATCTACCATGT... | AGAGTTATCAGTCATTGGTGAATGGTGTTATATGCAGAGCCCTTAAGGGAATTGGAGAAGTTTCTCTAGAGAAAAGGGCAGATAATATAAGGGCTATTTTCAAATATCTAAAAGGCTGCCTTTCTAGAAAAGTGATTAGCCTTCATTAAAAGCTAGAAAACCAGATTTTACCCAGTATTAAGGAAGAACTTTCTAATATTCAGAACTGTTCCAAAGATAAAAGTGGACTCCCCAGGACCCCAGAGGTGGTTTACAAGTCATGTGGGCAATTATTCATTCCTTCATTCACTGAACAAATATCTACTGAGAATCTACCATGT... | pathogenic | 105,818 |
Is the genetic mutation found on chromosome 6 at position 10796193, within the gene MAK (male germ cell associated kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_62'] | TTCATTAAAAGCTAGAAAACCAGATTTTACCCAGTATTAAGGAAGAACTTTCTAATATTCAGAACTGTTCCAAAGATAAAAGTGGACTCCCCAGGACCCCAGAGGTGGTTTACAAGTCATGTGGGCAATTATTCATTCCTTCATTCACTGAACAAATATCTACTGAGAATCTACCATGTGGCAGGCACTGGTCGGGGTGCTGAGGCTGTACTGATAAACACACAAACATTCCTGACCTCACTGAGCTTGCTGCATTCCAGAGGAAGAGACAAATAAACAATAAACATAAGAAGTAATTAACAGTATGTTAGAATGTGATT... | TTCATTAAAAGCTAGAAAACCAGATTTTACCCAGTATTAAGGAAGAACTTTCTAATATTCAGAACTGTTCCAAAGATAAAAGTGGACTCCCCAGGACCCCAGAGGTGGTTTACAAGTCATGTGGGCAATTATTCATTCCTTCATTCACTGAACAAATATCTACTGAGAATCTACCATGTGGCAGGCACTGGTCGGGGTGCTGAGGCTGTACTGATAAACACACAAACATTCCTGACCTCACTGAGCTTGCTGCATTCCAGAGGAAGAGACAAATAAACAATAAACATAAGAAGTAATTAACAGTATGTTAGAATGTGATT... | pathogenic | 105,821 |
Variant in gene MAK (male germ cell associated kinase), located at chromosome 6 position 10802003: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Retinal_dystrophy'] | GAAGAATTGCTTGTATCTGGGAGGCGGAGGGTGTAGTGAACCGAGATCACGCTACTGCACTCCAGCCTGGGCGATGGAGCGAGACTCCGTTTCAAAAACAAAAACAAAAACAAAAAAAAACTAAACAAAAAAACCCCTCTGGTCTCTACAAAAATACAAAAATAAGCCAAGCGTGGTGGCGGGCACCTGCAATCCCAGCAACTCGGGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGGAGGCGGAGGTTGCAGTGAGTGGAGATCATGCCACTACACTCCAGCCTGGGCAACAGAAACTCCATCTCAAAAAAAAAAGAA... | GAAGAATTGCTTGTATCTGGGAGGCGGAGGGTGTAGTGAACCGAGATCACGCTACTGCACTCCAGCCTGGGCGATGGAGCGAGACTCCGTTTCAAAAACAAAAACAAAAACAAAAAAAAACTAAACAAAAAAACCCCTCTGGTCTCTACAAAAATACAAAAATAAGCCAAGCGTGGTGGCGGGCACCTGCAATCCCAGCAACTCGGGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGGAGGCGGAGGTTGCAGTGAGTGGAGATCATGCCACTACACTCCAGCCTGGGCAACAGAAACTCCATCTCAAAAAAAAAAGAA... | pathogenic | 105,824 |
Chromosome 6, position 10808906, gene MAK (male germ cell associated kinase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa_62'] | CCATGCTTCTTGTACAGCCTGCAGAACTGGAAGCCAAATAAACCTCCTTTCTTTACCAACTTCCCAGCCGCAGGTGTTCCTTTACAGCAACACAAAAAAACACACTAAGACACGGACTCCTTTCTTTCAGCCCCCACATCTGATTCATTAGAATCCCACATTTCTCACTACCTGCATGGCCAGCAGGTCCAAGTCACTATCATTTCTGGCCACTCTACAAACTCTGCCCTTGTTTCCTACGACTGCCCTCCTTATTCATTCTGCACTGTGCAGAATTCACGTGTGGCGTGCACCTGTCTCAAGGCTTTTACTCTGCCTAA... | CCATGCTTCTTGTACAGCCTGCAGAACTGGAAGCCAAATAAACCTCCTTTCTTTACCAACTTCCCAGCCGCAGGTGTTCCTTTACAGCAACACAAAAAAACACACTAAGACACGGACTCCTTTCTTTCAGCCCCCACATCTGATTCATTAGAATCCCACATTTCTCACTACCTGCATGGCCAGCAGGTCCAAGTCACTATCATTTCTGGCCACTCTACAAACTCTGCCCTTGTTTCCTACGACTGCCCTCCTTATTCATTCTGCACTGTGCAGAATTCACGTGTGGCGTGCACCTGTCTCAAGGCTTTTACTCTGCCTAA... | pathogenic | 105,827 |
Mutation found at chromosome 6 position 10808907, gene MAK (male germ cell associated kinase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Retinitis_pigmentosa'] | CATGCTTCTTGTACAGCCTGCAGAACTGGAAGCCAAATAAACCTCCTTTCTTTACCAACTTCCCAGCCGCAGGTGTTCCTTTACAGCAACACAAAAAAACACACTAAGACACGGACTCCTTTCTTTCAGCCCCCACATCTGATTCATTAGAATCCCACATTTCTCACTACCTGCATGGCCAGCAGGTCCAAGTCACTATCATTTCTGGCCACTCTACAAACTCTGCCCTTGTTTCCTACGACTGCCCTCCTTATTCATTCTGCACTGTGCAGAATTCACGTGTGGCGTGCACCTGTCTCAAGGCTTTTACTCTGCCTAAA... | CATGCTTCTTGTACAGCCTGCAGAACTGGAAGCCAAATAAACCTCCTTTCTTTACCAACTTCCCAGCCGCAGGTGTTCCTTTACAGCAACACAAAAAAACACACTAAGACACGGACTCCTTTCTTTCAGCCCCCACATCTGATTCATTAGAATCCCACATTTCTCACTACCTGCATGGCCAGCAGGTCCAAGTCACTATCATTTCTGGCCACTCTACAAACTCTGCCCTTGTTTCCTACGACTGCCCTCCTTATTCATTCTGCACTGTGCAGAATTCACGTGTGGCGTGCACCTGTCTCAAGGCTTTTACTCTGCCTAAA... | pathogenic | 105,828 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 10813661, gene MAK (male germ cell associated kinase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_62'] | TATGAATAATTAAAATAGCAGATGTCCCTTATTTCCATATAATTAATACATTACTGCTGTTTGCCAATAAAGTGTAGTATATCATTACAGGATTTAGACTTTTAAAAGACCCCAATAGTTTACATATGGTGCAAATAAAAAGTTTTTTTTTAATGTTCTTAAAACATTCTAAACATACCCTTTTTATAAGTTTAAGAAGTGTTCTTAAAATATTTATATGGAATCCTGCATAGCATTTTTGGAAGGCAAATAATTCCTGTAGCAGTTAAGAAAATAAAAAAAACAAAATATAAACTACAGGAGGAGGATGGGTGTGATGG... | TATGAATAATTAAAATAGCAGATGTCCCTTATTTCCATATAATTAATACATTACTGCTGTTTGCCAATAAAGTGTAGTATATCATTACAGGATTTAGACTTTTAAAAGACCCCAATAGTTTACATATGGTGCAAATAAAAAGTTTTTTTTTAATGTTCTTAAAACATTCTAAACATACCCTTTTTATAAGTTTAAGAAGTGTTCTTAAAATATTTATATGGAATCCTGCATAGCATTTTTGGAAGGCAAATAATTCCTGTAGCAGTTAAGAAAATAAAAAAAACAAAATATAAACTACAGGAGGAGGATGGGTGTGATGG... | pathogenic | 105,830 |
Regarding the variant at chromosome 6 and position 10817956, affecting gene MAK (male germ cell associated kinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Retinitis_pigmentosa_62'] | TACAGTATATATATATATATATATATATATATATATATATGTATGTTTTCTTTTTTGTTTGAGATGGAGTCTTCTTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTCCCTCCTGGCCAACGCAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGCCTCCTGGGTTCAAGCAATTCTTCTGTCTTACCTTCCCGAGTGGCTGGGATTATGGGTGGCCTCAACCTCCTGGGCTCAAGCAATCTTCTCACCTCAGCCTCCAAGTAGCTAGGACTACAGGTGTGTGCCACCAC... | TACAGTATATATATATATATATATATATATATATATATATGTATGTTTTCTTTTTTGTTTGAGATGGAGTCTTCTTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTCCCTCCTGGCCAACGCAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGCCTCCTGGGTTCAAGCAATTCTTCTGTCTTACCTTCCCGAGTGGCTGGGATTATGGGTGGCCTCAACCTCCTGGGCTCAAGCAATCTTCTCACCTCAGCCTCCAAGTAGCTAGGACTACAGGTGTGTGCCACCAC... | pathogenic | 105,832 |
Chromosome 6, position 10874330, gene GCM2 (glial cells missing transcription factor 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TTGGCAATGGAAGTTCAAAGGAAAAAGTAACCAATGAGTGTACTAAGCATCTTTCCCTTTAAAAAAAATTGGTTGGTTAGAAACTCATAGGAGTGTACTCATACCTACTCAATCTTTTGTTAAGTACTGCATGCATTTATGATGTTGGAGTATTAGGCTTTTATGAATTAGTTGGATGATACAGAATGCTCAATGATTTAAAATGGCATCTGACTGACTACAATTTAGTTATACAAATTGATTATTCTATGCAAATTTGAGGATGATACTTCTAGGCACCCCCCCCCAAAATATATTGCTCCTGTAGTTTATCTTTATTT... | TTGGCAATGGAAGTTCAAAGGAAAAAGTAACCAATGAGTGTACTAAGCATCTTTCCCTTTAAAAAAAATTGGTTGGTTAGAAACTCATAGGAGTGTACTCATACCTACTCAATCTTTTGTTAAGTACTGCATGCATTTATGATGTTGGAGTATTAGGCTTTTATGAATTAGTTGGATGATACAGAATGCTCAATGATTTAAAATGGCATCTGACTGACTACAATTTAGTTATACAAATTGATTATTCTATGCAAATTTGAGGATGATACTTCTAGGCACCCCCCCCCAAAATATATTGCTCCTGTAGTTTATCTTTATTT... | benign | 105,839 |
Does the variant impacting DTNBP1 (dystrobrevin binding protein 1) on chromosome 6, position 15615305, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hermansky-Pudlak_syndrome'] | CATGCCATTGCACTCCAGCCTGAGCAACAACAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGCCCCTTTTTTGACACGGACCCCATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGATGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTGCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCC... | CATGCCATTGCACTCCAGCCTGAGCAACAACAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGCCCCTTTTTTGACACGGACCCCATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGATGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTGCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCC... | pathogenic | 105,910 |
Is the genetic variant on chromosome 6, position 18122137, gene NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Inborn_genetic_diseases', 'Lafora_disease', 'Myoclonic_epilepsy_of_Lafora_2'] | CTTGAGCCCAGGAGCTTGAAACCAGTTTGGGCAACAAAAACAAGATCCCATCCCTACGAAAAATTTAAAAATTAGCTGGGCATGGTGACACACCTGTAGTCCCAGCTACTCAGGATGCTGACGCAGGAGGATCGCTTGAGCCCAGGGAGTCGAGGCTGCAGTGAGCAGTGATCAATCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCATGTCTAAAAGCAAACAAACAAACGAAAAAACCCCATAAACATGTAACAGGAGCGTCATCAGCCCTTTGACGCTAGTATGTAGTGTGTTCTGCAATAGTTTAGAACTTA... | CTTGAGCCCAGGAGCTTGAAACCAGTTTGGGCAACAAAAACAAGATCCCATCCCTACGAAAAATTTAAAAATTAGCTGGGCATGGTGACACACCTGTAGTCCCAGCTACTCAGGATGCTGACGCAGGAGGATCGCTTGAGCCCAGGGAGTCGAGGCTGCAGTGAGCAGTGATCAATCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCATGTCTAAAAGCAAACAAACAAACGAAAAAACCCCATAAACATGTAACAGGAGCGTCATCAGCCCTTTGACGCTAGTATGTAGTGTGTTCTGCAATAGTTTAGAACTTA... | pathogenic | 105,946 |
Assess the variant on chromosome 6, position 18122138, impacting NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Lafora_disease'] | TTGAGCCCAGGAGCTTGAAACCAGTTTGGGCAACAAAAACAAGATCCCATCCCTACGAAAAATTTAAAAATTAGCTGGGCATGGTGACACACCTGTAGTCCCAGCTACTCAGGATGCTGACGCAGGAGGATCGCTTGAGCCCAGGGAGTCGAGGCTGCAGTGAGCAGTGATCAATCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCATGTCTAAAAGCAAACAAACAAACGAAAAAACCCCATAAACATGTAACAGGAGCGTCATCAGCCCTTTGACGCTAGTATGTAGTGTGTTCTGCAATAGTTTAGAACTTAC... | TTGAGCCCAGGAGCTTGAAACCAGTTTGGGCAACAAAAACAAGATCCCATCCCTACGAAAAATTTAAAAATTAGCTGGGCATGGTGACACACCTGTAGTCCCAGCTACTCAGGATGCTGACGCAGGAGGATCGCTTGAGCCCAGGGAGTCGAGGCTGCAGTGAGCAGTGATCAATCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCATGTCTAAAAGCAAACAAACAAACGAAAAAACCCCATAAACATGTAACAGGAGCGTCATCAGCCCTTTGACGCTAGTATGTAGTGTGTTCTGCAATAGTTTAGAACTTAC... | pathogenic | 105,947 |
Chromosome 6, position 24495026, gene ALDH5A1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | TAAACATTTGTGAGTGCTCCTAAAAGTTTTATGGGCCCTTGGCATCGTACCTACTGTGCGTAATGGATAAGTCATCTGGGAAAGGGAGTGGGTACCGTTTGAAATAGAACCTTAAAAAGGTAAGTGGGCTAGGGTAATTTTTGAACAAGAGAGGCAGCCACAATTAACTTGGCTTTTCTGGGCCTCAGTTGATTGAGGCCTCAATTGAATGATTTCCCCAGGCCAGTAGAAATGAGCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATAACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACACGGTG... | TAAACATTTGTGAGTGCTCCTAAAAGTTTTATGGGCCCTTGGCATCGTACCTACTGTGCGTAATGGATAAGTCATCTGGGAAAGGGAGTGGGTACCGTTTGAAATAGAACCTTAAAAAGGTAAGTGGGCTAGGGTAATTTTTGAACAAGAGAGGCAGCCACAATTAACTTGGCTTTTCTGGGCCTCAGTTGATTGAGGCCTCAATTGAATGATTTCCCCAGGCCAGTAGAAATGAGCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATAACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACACGGTG... | pathogenic | 106,016 |
Benign or pathogenic: chromosome 6, position 24495099, gene ALDH5A1 variant? Disease(s) if pathogenic? | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | ATCTGGGAAAGGGAGTGGGTACCGTTTGAAATAGAACCTTAAAAAGGTAAGTGGGCTAGGGTAATTTTTGAACAAGAGAGGCAGCCACAATTAACTTGGCTTTTCTGGGCCTCAGTTGATTGAGGCCTCAATTGAATGATTTCCCCAGGCCAGTAGAAATGAGCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATAACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACACGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACACACCTGTAGCCCCATCTACTCGG... | ATCTGGGAAAGGGAGTGGGTACCGTTTGAAATAGAACCTTAAAAAGGTAAGTGGGCTAGGGTAATTTTTGAACAAGAGAGGCAGCCACAATTAACTTGGCTTTTCTGGGCCTCAGTTGATTGAGGCCTCAATTGAATGATTTCCCCAGGCCAGTAGAAATGAGCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATAACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACACGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACACACCTGTAGCCCCATCTACTCGG... | pathogenic | 106,018 |
Evaluate the clinical significance of the mutation at chromosome 6, position 24495107 in gene ALDH5A1: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | AAGGGAGTGGGTACCGTTTGAAATAGAACCTTAAAAAGGTAAGTGGGCTAGGGTAATTTTTGAACAAGAGAGGCAGCCACAATTAACTTGGCTTTTCTGGGCCTCAGTTGATTGAGGCCTCAATTGAATGATTTCCCCAGGCCAGTAGAAATGAGCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATAACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACACGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACACACCTGTAGCCCCATCTACTCGGGAGGCTGA... | AAGGGAGTGGGTACCGTTTGAAATAGAACCTTAAAAAGGTAAGTGGGCTAGGGTAATTTTTGAACAAGAGAGGCAGCCACAATTAACTTGGCTTTTCTGGGCCTCAGTTGATTGAGGCCTCAATTGAATGATTTCCCCAGGCCAGTAGAAATGAGCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATAACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACACGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACACACCTGTAGCCCCATCTACTCGGGAGGCTGA... | pathogenic | 106,020 |
Gene mutation in ALDH5A1 at chromosome 6, position 24495109—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | GGGAGTGGGTACCGTTTGAAATAGAACCTTAAAAAGGTAAGTGGGCTAGGGTAATTTTTGAACAAGAGAGGCAGCCACAATTAACTTGGCTTTTCTGGGCCTCAGTTGATTGAGGCCTCAATTGAATGATTTCCCCAGGCCAGTAGAAATGAGCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATAACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACACGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACACACCTGTAGCCCCATCTACTCGGGAGGCTGAGG... | GGGAGTGGGTACCGTTTGAAATAGAACCTTAAAAAGGTAAGTGGGCTAGGGTAATTTTTGAACAAGAGAGGCAGCCACAATTAACTTGGCTTTTCTGGGCCTCAGTTGATTGAGGCCTCAATTGAATGATTTCCCCAGGCCAGTAGAAATGAGCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATAACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACACGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACACACCTGTAGCCCCATCTACTCGGGAGGCTGAGG... | pathogenic | 106,021 |
Evaluate the clinical significance of the mutation at chromosome 6, position 24503385 in gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | GTCCTCTAGAAATAGGTTAAACTGAATCAACTTGATGGAAGGAACTCTCCACAGGGCTTGTTTTCCAAAGAAAAGTATAGTTTGGAGAAGCAAAGTTACAAGCCTACCTAAGCATATCATAAAGCTGTTCAGAAATAACTCAGAGCCAGTCTCGTGGATGGAAATGTAGTGCCTGAGTCACATTCTGCTTAAAGTTGTAACAGACACAGAGGAGTTAAAAAAATAGCTGAGCGTGATGATGTGTGCCTGTGGTCCCAGCTACTCAGTAGTAGGCTGAGCTGGGGGGATCACTTGAACCAAGGAAGCAGAGGTTGCAGTGA... | GTCCTCTAGAAATAGGTTAAACTGAATCAACTTGATGGAAGGAACTCTCCACAGGGCTTGTTTTCCAAAGAAAAGTATAGTTTGGAGAAGCAAAGTTACAAGCCTACCTAAGCATATCATAAAGCTGTTCAGAAATAACTCAGAGCCAGTCTCGTGGATGGAAATGTAGTGCCTGAGTCACATTCTGCTTAAAGTTGTAACAGACACAGAGGAGTTAAAAAAATAGCTGAGCGTGATGATGTGTGCCTGTGGTCCCAGCTACTCAGTAGTAGGCTGAGCTGGGGGGATCACTTGAACCAAGGAAGCAGAGGTTGCAGTGA... | pathogenic | 106,032 |
Mutation at chromosome 6, position 24504876, within ALDH5A1 (aldehyde dehydrogenase 5 family member A1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | AGATTTTGTTTGCAACTATATGAATAACTGCTGTTTCACCATTCTGATTTTTTTCCATGTTACTGTTTTGGTTGTTTTTTTTTTTAAACTTGTTTTTGTACATTTTTTAATGTACCAATACTTCTTCCATAGATATAATAAATTATTTCATATCGTGGTTACAATACTTAGAAGATATTGAAAGGAGGAAAAAATTAGATGTTTCCTAATTTGTAAACATATTGAGAATGCAATGACTTGTGGTTTAGGGTGATACATTCATCATTGTAATTCTGCTTTTTAAAACTCACACCAAAGTCAGAAATTTTCCCCACTCTATG... | AGATTTTGTTTGCAACTATATGAATAACTGCTGTTTCACCATTCTGATTTTTTTCCATGTTACTGTTTTGGTTGTTTTTTTTTTTAAACTTGTTTTTGTACATTTTTTAATGTACCAATACTTCTTCCATAGATATAATAAATTATTTCATATCGTGGTTACAATACTTAGAAGATATTGAAAGGAGGAAAAAATTAGATGTTTCCTAATTTGTAAACATATTGAGAATGCAATGACTTGTGGTTTAGGGTGATACATTCATCATTGTAATTCTGCTTTTTAAAACTCACACCAAAGTCAGAAATTTTCCCCACTCTATG... | pathogenic | 106,040 |
A genetic variant on chromosome 6, position 24504922, affects the gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | ATTTTTTTCCATGTTACTGTTTTGGTTGTTTTTTTTTTTAAACTTGTTTTTGTACATTTTTTAATGTACCAATACTTCTTCCATAGATATAATAAATTATTTCATATCGTGGTTACAATACTTAGAAGATATTGAAAGGAGGAAAAAATTAGATGTTTCCTAATTTGTAAACATATTGAGAATGCAATGACTTGTGGTTTAGGGTGATACATTCATCATTGTAATTCTGCTTTTTAAAACTCACACCAAAGTCAGAAATTTTCCCCACTCTATGGGTATCGTTATAGGAGACTTTTCTACTCTTGTTGCATCTTGAAGAA... | ATTTTTTTCCATGTTACTGTTTTGGTTGTTTTTTTTTTTAAACTTGTTTTTGTACATTTTTTAATGTACCAATACTTCTTCCATAGATATAATAAATTATTTCATATCGTGGTTACAATACTTAGAAGATATTGAAAGGAGGAAAAAATTAGATGTTTCCTAATTTGTAAACATATTGAGAATGCAATGACTTGTGGTTTAGGGTGATACATTCATCATTGTAATTCTGCTTTTTAAAACTCACACCAAAGTCAGAAATTTTCCCCACTCTATGGGTATCGTTATAGGAGACTTTTCTACTCTTGTTGCATCTTGAAGAA... | pathogenic | 106,041 |
Chromosome 6, position 24515258, gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Succinate-semialdehyde_dehydrogenase_deficiency'] | CCACCATACCCAGCTAATTTTGTTTTTTATTTTTTCGTAGAGATAGGGTCTCACTATGTTGCGTAGCCTGGTATAGAACTTCTGGGCTCAAGCAGTCCTCCCACATCAGCCTCCCAAAGTGCTGGGGTTACAAGCATGAGCCACCACACCCAGCCTCTTTTCTTTTAACAACTTTTTATGGGATTTGACCTCAGTGTTCTTGTCAGAATTTTATTTTTATGTGAAGTTAGTTTTCTGAACTTTTGGAAGAAGGCCCAGTTAGGAATATAGCTTCTTTTCCTTCACAGTGTACCTTTTGCTTCCTTGTGTATCGTGTTCAA... | CCACCATACCCAGCTAATTTTGTTTTTTATTTTTTCGTAGAGATAGGGTCTCACTATGTTGCGTAGCCTGGTATAGAACTTCTGGGCTCAAGCAGTCCTCCCACATCAGCCTCCCAAAGTGCTGGGGTTACAAGCATGAGCCACCACACCCAGCCTCTTTTCTTTTAACAACTTTTTATGGGATTTGACCTCAGTGTTCTTGTCAGAATTTTATTTTTATGTGAAGTTAGTTTTCTGAACTTTTGGAAGAAGGCCCAGTTAGGAATATAGCTTCTTTTCCTTCACAGTGTACCTTTTGCTTCCTTGTGTATCGTGTTCAA... | pathogenic | 106,056 |
A genetic variant at chromosome 6, position 24520423, affecting gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | GAGAAGCAGAGACTGAGTGGGGAGAGGACACTGTCAGAGGACACAGAGCCAGTGCAGGTGGAGGGACAGACACCAGAGACAGGACCTGTGCTCAAGGCCAGGTGGAGGCAAAATGGAGTGACCCAACAGTGAGAATCATTTTTGCACTGAAGCAAATCCAGGAAAAGTCAATGACGTTTCTTAAAAATTTTTAAATAAAAACATAAAAAAAGTTTAAATAGTTATGTTGCGTCCGATAAAGAAATATGTTTAGTCTTAAAACTTGAACTACTTTGTTGAACAGTAATGTTTCAGAGAAGATTGTTACTACCATTTGATTG... | GAGAAGCAGAGACTGAGTGGGGAGAGGACACTGTCAGAGGACACAGAGCCAGTGCAGGTGGAGGGACAGACACCAGAGACAGGACCTGTGCTCAAGGCCAGGTGGAGGCAAAATGGAGTGACCCAACAGTGAGAATCATTTTTGCACTGAAGCAAATCCAGGAAAAGTCAATGACGTTTCTTAAAAATTTTTAAATAAAAACATAAAAAAAGTTTAAATAGTTATGTTGCGTCCGATAAAGAAATATGTTTAGTCTTAAAACTTGAACTACTTTGTTGAACAGTAATGTTTCAGAGAAGATTGTTACTACCATTTGATTG... | pathogenic | 106,058 |
Variant at chromosome 6, position 24520496, gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | CAGAGACAGGACCTGTGCTCAAGGCCAGGTGGAGGCAAAATGGAGTGACCCAACAGTGAGAATCATTTTTGCACTGAAGCAAATCCAGGAAAAGTCAATGACGTTTCTTAAAAATTTTTAAATAAAAACATAAAAAAAGTTTAAATAGTTATGTTGCGTCCGATAAAGAAATATGTTTAGTCTTAAAACTTGAACTACTTTGTTGAACAGTAATGTTTCAGAGAAGATTGTTACTACCATTTGATTGCTGGAATATTAACATACAGACACATACACAGTACCCACACAGGCCTAGCTTTCCAGCCATTCTGTGTTTTTAC... | CAGAGACAGGACCTGTGCTCAAGGCCAGGTGGAGGCAAAATGGAGTGACCCAACAGTGAGAATCATTTTTGCACTGAAGCAAATCCAGGAAAAGTCAATGACGTTTCTTAAAAATTTTTAAATAAAAACATAAAAAAAGTTTAAATAGTTATGTTGCGTCCGATAAAGAAATATGTTTAGTCTTAAAACTTGAACTACTTTGTTGAACAGTAATGTTTCAGAGAAGATTGTTACTACCATTTGATTGCTGGAATATTAACATACAGACACATACACAGTACCCACACAGGCCTAGCTTTCCAGCCATTCTGTGTTTTTAC... | pathogenic | 106,060 |
Is the chromosome 6, position 24520603 variant in ALDH5A1 (aldehyde dehydrogenase 5 family member A1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TTAAAAATTTTTAAATAAAAACATAAAAAAAGTTTAAATAGTTATGTTGCGTCCGATAAAGAAATATGTTTAGTCTTAAAACTTGAACTACTTTGTTGAACAGTAATGTTTCAGAGAAGATTGTTACTACCATTTGATTGCTGGAATATTAACATACAGACACATACACAGTACCCACACAGGCCTAGCTTTCCAGCCATTCTGTGTTTTTACCAAGAACCGTGTCACAAAACTCATGACCTCAGAATGTACAACACTTGGGGGGCAATCCTAGAGCCACCTTGGGCTTGCGAACACCGTCTGTTTCACTCGAACTATCT... | TTAAAAATTTTTAAATAAAAACATAAAAAAAGTTTAAATAGTTATGTTGCGTCCGATAAAGAAATATGTTTAGTCTTAAAACTTGAACTACTTTGTTGAACAGTAATGTTTCAGAGAAGATTGTTACTACCATTTGATTGCTGGAATATTAACATACAGACACATACACAGTACCCACACAGGCCTAGCTTTCCAGCCATTCTGTGTTTTTACCAAGAACCGTGTCACAAAACTCATGACCTCAGAATGTACAACACTTGGGGGGCAATCCTAGAGCCACCTTGGGCTTGCGAACACCGTCTGTTTCACTCGAACTATCT... | benign | 106,061 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 24527903, gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1). What disease(s) is it linked to if pathogenic? | benign | TCTGCACAATTTTCTGGGTCATTCCCACCATCCCTTCTCACCACGACCACCACCAAGACACATGAGACAGCAGAGGCATTTGTTCTGGGCAGGACAGCTTTTCTGAAGAAATATAGTAGGTATCTAGGCAGACTACAGCTTCAAGAGCGAGGCTAGGTACCTCAGGGTAGGGCTCTCTCGACTTTGCCTTTTGGGGAAGGGAGCTGCCCTTATGTGAAGCCTGCAAGTTAGAATAAACCCAAGCTTAAAACAGCAAAGACCACTCATGCCACACATCCCCAAATTGATCAACCCAGTCCTTGTGTGTGTGTGTGTCCCCC... | TCTGCACAATTTTCTGGGTCATTCCCACCATCCCTTCTCACCACGACCACCACCAAGACACATGAGACAGCAGAGGCATTTGTTCTGGGCAGGACAGCTTTTCTGAAGAAATATAGTAGGTATCTAGGCAGACTACAGCTTCAAGAGCGAGGCTAGGTACCTCAGGGTAGGGCTCTCTCGACTTTGCCTTTTGGGGAAGGGAGCTGCCCTTATGTGAAGCCTGCAAGTTAGAATAAACCCAAGCTTAAAACAGCAAAGACCACTCATGCCACACATCCCCAAATTGATCAACCCAGTCCTTGTGTGTGTGTGTGTCCCCC... | benign | 106,066 |
Regarding the variant found on chromosome 6 at position 24528143 in gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | AAGCTTAAAACAGCAAAGACCACTCATGCCACACATCCCCAAATTGATCAACCCAGTCCTTGTGTGTGTGTGTGTCCCCCAAACACACTGCTGGAGCTGAGAAGGAGCTGACCAGGTTAGTTTCGACAACTCAGTCCTTCATTCAGAAAGATGAACAACCAAGGATCATGATGGGAAAACCACCAGCACATAAGAGGAAAGGTCAGGAAGAACAAACAGAATAGTCCCTGAAGGAAGCAGATAAATTAGGGAACTGGAAGGAAATTTTCTAAAAATCTCATAGTGTCCTGCAAGAGTTTTGGGAAGATAGTACATCTGTA... | AAGCTTAAAACAGCAAAGACCACTCATGCCACACATCCCCAAATTGATCAACCCAGTCCTTGTGTGTGTGTGTGTCCCCCAAACACACTGCTGGAGCTGAGAAGGAGCTGACCAGGTTAGTTTCGACAACTCAGTCCTTCATTCAGAAAGATGAACAACCAAGGATCATGATGGGAAAACCACCAGCACATAAGAGGAAAGGTCAGGAAGAACAAACAGAATAGTCCCTGAAGGAAGCAGATAAATTAGGGAACTGGAAGGAAATTTTCTAAAAATCTCATAGTGTCCTGCAAGAGTTTTGGGAAGATAGTACATCTGTA... | pathogenic | 106,070 |
Evaluate if the mutation on chromosome 6 at position 24528167 in ALDH5A1 (aldehyde dehydrogenase 5 family member A1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | CATGCCACACATCCCCAAATTGATCAACCCAGTCCTTGTGTGTGTGTGTGTCCCCCAAACACACTGCTGGAGCTGAGAAGGAGCTGACCAGGTTAGTTTCGACAACTCAGTCCTTCATTCAGAAAGATGAACAACCAAGGATCATGATGGGAAAACCACCAGCACATAAGAGGAAAGGTCAGGAAGAACAAACAGAATAGTCCCTGAAGGAAGCAGATAAATTAGGGAACTGGAAGGAAATTTTCTAAAAATCTCATAGTGTCCTGCAAGAGTTTTGGGAAGATAGTACATCTGTAAACTGTTAATAAGAAGTATGTTCT... | CATGCCACACATCCCCAAATTGATCAACCCAGTCCTTGTGTGTGTGTGTGTCCCCCAAACACACTGCTGGAGCTGAGAAGGAGCTGACCAGGTTAGTTTCGACAACTCAGTCCTTCATTCAGAAAGATGAACAACCAAGGATCATGATGGGAAAACCACCAGCACATAAGAGGAAAGGTCAGGAAGAACAAACAGAATAGTCCCTGAAGGAAGCAGATAAATTAGGGAACTGGAAGGAAATTTTCTAAAAATCTCATAGTGTCCTGCAAGAGTTTTGGGAAGATAGTACATCTGTAAACTGTTAATAAGAAGTATGTTCT... | pathogenic | 106,072 |
Variant on chromosome 6, at position 26091518, affecting HFE (homeostatic iron regulator): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Alzheimer_disease_type_1', 'Familial_porphyria_cutanea_tarda', 'Hemochromatosis_type_1', 'Hereditary_hemochromatosis', 'Microvascular_complications_of_diabetes,_susceptibility_to,_7', 'TRANSFERRIN_SERUM_LEVEL_QUANTITATIVE_TRAIT_LOCUS_2', 'Variegate_porphyria'] | AAAGCAGAATGAAGGGAGCAACAGTAAAAGCAGGGAGCCCAGCCAGGAAGCTGTTACACAGTCCAGGCAAGAGGTAGTGGAGTGGGCTGGGTGGGAACAGAAAAGGGAGTGACAAACCATTGTCTCCTGAATATATTCTGAAGGAAGTTGCTGAAGGATTCTATGTTGTGTGAGAGAAAGAGAAGAATTGGCTGGGTGTAGTAGCTCATGCCAAGGAGGAGGCCAAGGAGAGCAGATTCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAAACCCCTTCTCTACAAAAAATACAAAAATTAGCTGGGTGT... | AAAGCAGAATGAAGGGAGCAACAGTAAAAGCAGGGAGCCCAGCCAGGAAGCTGTTACACAGTCCAGGCAAGAGGTAGTGGAGTGGGCTGGGTGGGAACAGAAAAGGGAGTGACAAACCATTGTCTCCTGAATATATTCTGAAGGAAGTTGCTGAAGGATTCTATGTTGTGTGAGAGAAAGAGAAGAATTGGCTGGGTGTAGTAGCTCATGCCAAGGAGGAGGCCAAGGAGAGCAGATTCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAAACCCCTTCTCTACAAAAAATACAAAAATTAGCTGGGTGT... | pathogenic | 106,168 |
For chromosome 6, position 26094198, gene HFE (homeostatic iron regulator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hemochromatosis_type_1', 'Hereditary_hemochromatosis'] | GGCAGCAGAGTGAGACTCCATCTTAAAAAAAAAAAAAAAAAAAAAAAGAGAATTCAGAGATCTCAGCTATCATATGAATACCAGGACAAAATATCAAGTGAGGCCACTTATCAGAGTAGAAGAATCCTTTAGGTTAAAAGTTTCTTTCATAGAACATAGCAATAATCACTGAAGCTACCTATCTTACAAGTCCGCTTCTTATAACAATGCCTCCTAGGTTGACCCAGGTGAAACTGACCATCTGTATTCAATCATTTTCAATGCACATAAAGGGCAATTTTATCTATCAGAACAAAGAACATGGGTAACAGATATGTATA... | GGCAGCAGAGTGAGACTCCATCTTAAAAAAAAAAAAAAAAAAAAAAAGAGAATTCAGAGATCTCAGCTATCATATGAATACCAGGACAAAATATCAAGTGAGGCCACTTATCAGAGTAGAAGAATCCTTTAGGTTAAAAGTTTCTTTCATAGAACATAGCAATAATCACTGAAGCTACCTATCTTACAAGTCCGCTTCTTATAACAATGCCTCCTAGGTTGACCCAGGTGAAACTGACCATCTGTATTCAATCATTTTCAATGCACATAAAGGGCAATTTTATCTATCAGAACAAAGAACATGGGTAACAGATATGTATA... | pathogenic | 106,178 |
The chromosome 6, position 26156750 genetic variant in gene H1-4 (H1.4 linker histone, cluster member): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['HIST1H1E-related_neurodevelopmental_disorder_with_multiple_anomalies', 'Rahman_syndrome'] | TTTTTGAGACGGAGTCTTGCTCTTTCGCCTAGGCCTGACTGCAGTGGCACTATCTAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCC... | TTTTTGAGACGGAGTCTTGCTCTTTCGCCTAGGCCTGACTGCAGTGGCACTATCTAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCC... | pathogenic | 106,187 |
Regarding the variant at chromosome 6 and position 26156797, affecting gene H1-4 (H1.4 linker histone, cluster member): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Rahman_syndrome'] | CACTATCTAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCA... | CACTATCTAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCA... | pathogenic | 106,190 |
Chromosome 6, position 26156801, gene H1-4 (H1.4 linker histone, cluster member): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Rahman_syndrome'] | ATCTAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCA... | ATCTAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCA... | pathogenic | 106,191 |
Gene H1-4 (H1.4 linker histone, cluster member) variant at chromosome 6, position 26156815—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Inborn_genetic_diseases', 'Rahman_syndrome'] | CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAG... | CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAG... | pathogenic | 106,192 |
Evaluate the clinical significance of the mutation at chromosome 6, position 26156821 in gene H1-4 (H1.4 linker histone, cluster member): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Rahman_syndrome'] | CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTT... | CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTT... | pathogenic | 106,193 |
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