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 |
|---|---|---|---|---|---|
Evaluate if the mutation on chromosome 5 at position 177994318 in PROP1 (PROP paired-like homeobox 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Pituitary_hormone_deficiency,_combined,_2'] | CAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAATATCACCCTTCAGCAGGCAGCTCCACCGAGGCATCTTGCCCTGTCTCTTCCAGTAGCTCACCTCCCCAGACTTCCTCCACTAATCACCCCAGTGAGAATTCACCATGATCTCCCATTTTTAAATTTCTAATCG... | CAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAATATCACCCTTCAGCAGGCAGCTCCACCGAGGCATCTTGCCCTGTCTCTTCCAGTAGCTCACCTCCCCAGACTTCCTCCACTAATCACCCCAGTGAGAATTCACCATGATCTCCCATTTTTAAATTTCTAATCG... | pathogenic | 104,313 |
Does the variant on chromosome 5 at location 177994323 affecting gene PROP1 (PROP paired-like homeobox 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Pituitary_hormone_deficiency,_combined,_2'] | ACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAATATCACCCTTCAGCAGGCAGCTCCACCGAGGCATCTTGCCCTGTCTCTTCCAGTAGCTCACCTCCCCAGACTTCCTCCACTAATCACCCCAGTGAGAATTCACCATGATCTCCCATTTTTAAATTTCTAATCGCTGAG... | ACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAATATCACCCTTCAGCAGGCAGCTCCACCGAGGCATCTTGCCCTGTCTCTTCCAGTAGCTCACCTCCCCAGACTTCCTCCACTAATCACCCCAGTGAGAATTCACCATGATCTCCCATTTTTAAATTTCTAATCGCTGAG... | pathogenic | 104,314 |
Is chromosome 5, position 177995838, gene PROP1 (PROP paired-like homeobox 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Pituitary_hormone_deficiency,_combined,_2'] | CTCTTAACCTCAGGTGATCCATCCAGCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTGCCCAGCCGGAATTGGCATCACTATTAAATATTGAGGGTAGGTGTTGAAATTCAAGTTAGATTAGCTTATAGCTAGGGTTAAACTCAAGTGATATGATATTCTCAATGCAGTTGCTCTGATGCTGGTGGTGAGATGAGGCCTGTGTCTGGTGACCATTTAGGTTAGGGTTATAATGCCCAACATTCTATGATAGCACCAAAGAAATCTGCATTTCTTTCCTGAGAGAGGAGGATCCTGGAGCATCACCTGG... | CTCTTAACCTCAGGTGATCCATCCAGCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTGCCCAGCCGGAATTGGCATCACTATTAAATATTGAGGGTAGGTGTTGAAATTCAAGTTAGATTAGCTTATAGCTAGGGTTAAACTCAAGTGATATGATATTCTCAATGCAGTTGCTCTGATGCTGGTGGTGAGATGAGGCCTGTGTCTGGTGACCATTTAGGTTAGGGTTATAATGCCCAACATTCTATGATAGCACCAAAGAAATCTGCATTTCTTTCCTGAGAGAGGAGGATCCTGGAGCATCACCTGG... | pathogenic | 104,322 |
Does the variant on chromosome 5 at location 177995858 affecting gene PROP1 (PROP paired-like homeobox 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Pituitary_hormone_deficiency,_combined,_2'] | ATCCAGCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTGCCCAGCCGGAATTGGCATCACTATTAAATATTGAGGGTAGGTGTTGAAATTCAAGTTAGATTAGCTTATAGCTAGGGTTAAACTCAAGTGATATGATATTCTCAATGCAGTTGCTCTGATGCTGGTGGTGAGATGAGGCCTGTGTCTGGTGACCATTTAGGTTAGGGTTATAATGCCCAACATTCTATGATAGCACCAAAGAAATCTGCATTTCTTTCCTGAGAGAGGAGGATCCTGGAGCATCACCTGGATTCGGGCCTCACTGAGGCC... | ATCCAGCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTGCCCAGCCGGAATTGGCATCACTATTAAATATTGAGGGTAGGTGTTGAAATTCAAGTTAGATTAGCTTATAGCTAGGGTTAAACTCAAGTGATATGATATTCTCAATGCAGTTGCTCTGATGCTGGTGGTGAGATGAGGCCTGTGTCTGGTGACCATTTAGGTTAGGGTTATAATGCCCAACATTCTATGATAGCACCAAAGAAATCTGCATTTCTTTCCTGAGAGAGGAGGATCCTGGAGCATCACCTGGATTCGGGCCTCACTGAGGCC... | pathogenic | 104,324 |
Clinical significance of chromosome 5, position 177995870, gene PROP1 (PROP paired-like homeobox 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Pituitary_hormone_deficiency,_combined,_2'] | CTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTGCCCAGCCGGAATTGGCATCACTATTAAATATTGAGGGTAGGTGTTGAAATTCAAGTTAGATTAGCTTATAGCTAGGGTTAAACTCAAGTGATATGATATTCTCAATGCAGTTGCTCTGATGCTGGTGGTGAGATGAGGCCTGTGTCTGGTGACCATTTAGGTTAGGGTTATAATGCCCAACATTCTATGATAGCACCAAAGAAATCTGCATTTCTTTCCTGAGAGAGGAGGATCCTGGAGCATCACCTGGATTCGGGCCTCACTGAGGCCAGTGTCCCGGGC... | CTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTGCCCAGCCGGAATTGGCATCACTATTAAATATTGAGGGTAGGTGTTGAAATTCAAGTTAGATTAGCTTATAGCTAGGGTTAAACTCAAGTGATATGATATTCTCAATGCAGTTGCTCTGATGCTGGTGGTGAGATGAGGCCTGTGTCTGGTGACCATTTAGGTTAGGGTTATAATGCCCAACATTCTATGATAGCACCAAAGAAATCTGCATTTCTTTCCTGAGAGAGGAGGATCCTGGAGCATCACCTGGATTCGGGCCTCACTGAGGCCAGTGTCCCGGGC... | pathogenic | 104,325 |
Mutation at chromosome 5, position 178150867, within NHP2 (NHP2 ribonucleoprotein): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CAGGAAAATGAAGTAACTTGCACAACAGGGCTCACAGCTTAGAAAGGAGAGAGCTTGGAGTTTTAACCAGATCTGACCCTCAAGCCCAAGCTATTTCCAGTTTATTCCAGGGTGCCTGAACTTGGCTGTTATGTATACTGAGTCCTGTGCAGGGCCTCTGACAGCAGGAAGGGGCCCCAAGTCTAAAATACTTGAAGGGATTGGGTTACTAGGGCCATTATGTTAAGCAAGAGAGCTCGGGGGAATGCATTTTAGCTTCATATTCCTATTTAAAATGTGCTGTGTGGGTGGGTAAATTGCTTCCATAAGCTTCACAGTGG... | CAGGAAAATGAAGTAACTTGCACAACAGGGCTCACAGCTTAGAAAGGAGAGAGCTTGGAGTTTTAACCAGATCTGACCCTCAAGCCCAAGCTATTTCCAGTTTATTCCAGGGTGCCTGAACTTGGCTGTTATGTATACTGAGTCCTGTGCAGGGCCTCTGACAGCAGGAAGGGGCCCCAAGTCTAAAATACTTGAAGGGATTGGGTTACTAGGGCCATTATGTTAAGCAAGAGAGCTCGGGGGAATGCATTTTAGCTTCATATTCCTATTTAAAATGTGCTGTGTGGGTGGGTAAATTGCTTCCATAAGCTTCACAGTGG... | benign | 104,339 |
The chromosome 5, position 178986187 genetic variant in gene GRM6: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Congenital_stationary_night_blindness_1B'] | AATAAGTTTGGAAGTTCCTACTAGAACAAGGCTCCAGGTGGAAAAAAAAAAAGTTGCTCATGAGAAACAAAAATGCAAGCCCAGGGCTGCACAGCGGTAACCACCAAAACGGCCCACAGATGCCGCAGCCCGTGGAGTGGGGAGCGAGCGAGCACGCCTCACTCGGAACGGACTCCTGCAAAATAACAGCAAATGAGCAAAGGACAGGAACAGGCTGAGCCCAGGAGAGGAAAGCCCCATGGCCGGCGCACTGGTGCTAAGTGCAGGCGAATTGAAGCCACAGTGAGATGCCATTTTGCAGCCCGTCATGACGTGGTAGT... | AATAAGTTTGGAAGTTCCTACTAGAACAAGGCTCCAGGTGGAAAAAAAAAAAGTTGCTCATGAGAAACAAAAATGCAAGCCCAGGGCTGCACAGCGGTAACCACCAAAACGGCCCACAGATGCCGCAGCCCGTGGAGTGGGGAGCGAGCGAGCACGCCTCACTCGGAACGGACTCCTGCAAAATAACAGCAAATGAGCAAAGGACAGGAACAGGCTGAGCCCAGGAGAGGAAAGCCCCATGGCCGGCGCACTGGTGCTAAGTGCAGGCGAATTGAAGCCACAGTGAGATGCCATTTTGCAGCCCGTCATGACGTGGTAGT... | pathogenic | 104,359 |
A mutation at chromosome position 178988981 on chromosome 5 in gene GRM6: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GCCCGGGCGCATCTCCGTTCTCGTTGAACATCACAGGGGTTCCTGCGCTGCCTGGAGAGAGAGTCCGTCATCCTCGGTGGTCCTCCAGCCCAGCAGAGCTGGCCTCCTGGGGAGGCCCCAGGGACCAGCAGGAGAAAGGAGGAGCTTAACAAGCATCACTGCTCATAAGGGACGTGCAAATCCAAGCCGCAGGGAGATCCCCCTTCACCCATTGGGATGGCTTCTAGCCAAGAACCAGAAAATAACGAGTGTTGTGAGCGTGTGGAGAAGTCGGAACCCTTGTGCACGGTGGGTGGGAAAAGGCTGCAGCCGCTGCAGAA... | GCCCGGGCGCATCTCCGTTCTCGTTGAACATCACAGGGGTTCCTGCGCTGCCTGGAGAGAGAGTCCGTCATCCTCGGTGGTCCTCCAGCCCAGCAGAGCTGGCCTCCTGGGGAGGCCCCAGGGACCAGCAGGAGAAAGGAGGAGCTTAACAAGCATCACTGCTCATAAGGGACGTGCAAATCCAAGCCGCAGGGAGATCCCCCTTCACCCATTGGGATGGCTTCTAGCCAAGAACCAGAAAATAACGAGTGTTGTGAGCGTGTGGAGAAGTCGGAACCCTTGTGCACGGTGGGTGGGAAAAGGCTGCAGCCGCTGCAGAA... | benign | 104,383 |
Does the variant on chromosome 5 at location 179127939 affecting gene ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AATGCCTCGGATGATGCCAGGCCCAGGCCCCACACCTCCAAGCACGGGAGCCCCTGGTGGCCCCTGGCCTGTCTCCTCTAGTGGGAGCCCGAGCTGGGGGCACTCACACTGGCTGGGAGCATTCCTGTGGGTTGCACGCTCTGCGGATGGCTTTGGGCTTCGAGAGGGCGGCACAGAAGCCACGGTGTACCATCTTGTGGTCCAGCCTCCGGCGGCAGCCATACTTGGTGAACTGGGACCCTGAAGGCAGAGAGCTCGACGGGGGTCGGTGGGGCAGCATGCCCTGCCCGAGGGTGCAAGGAGGGGTGGGCTGCACCAGC... | AATGCCTCGGATGATGCCAGGCCCAGGCCCCACACCTCCAAGCACGGGAGCCCCTGGTGGCCCCTGGCCTGTCTCCTCTAGTGGGAGCCCGAGCTGGGGGCACTCACACTGGCTGGGAGCATTCCTGTGGGTTGCACGCTCTGCGGATGGCTTTGGGCTTCGAGAGGGCGGCACAGAAGCCACGGTGTACCATCTTGTGGTCCAGCCTCCGGCGGCAGCCATACTTGGTGAACTGGGACCCTGAAGGCAGAGAGCTCGACGGGGGTCGGTGGGGCAGCATGCCCTGCCCGAGGGTGCAAGGAGGGGTGGGCTGCACCAGC... | benign | 104,427 |
Chromosome 5, position 179128013, gene ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Ehlers-Danlos_syndrome,_dermatosparaxis_type'] | CCTCTAGTGGGAGCCCGAGCTGGGGGCACTCACACTGGCTGGGAGCATTCCTGTGGGTTGCACGCTCTGCGGATGGCTTTGGGCTTCGAGAGGGCGGCACAGAAGCCACGGTGTACCATCTTGTGGTCCAGCCTCCGGCGGCAGCCATACTTGGTGAACTGGGACCCTGAAGGCAGAGAGCTCGACGGGGGTCGGTGGGGCAGCATGCCCTGCCCGAGGGTGCAAGGAGGGGTGGGCTGCACCAGCAGTGCTGGCCTCGTTTTCCTGCTCACCCTTGTGATGACAATAAGGGTGGGCAGGGCACCGAGCCTGCGGCTGGC... | CCTCTAGTGGGAGCCCGAGCTGGGGGCACTCACACTGGCTGGGAGCATTCCTGTGGGTTGCACGCTCTGCGGATGGCTTTGGGCTTCGAGAGGGCGGCACAGAAGCCACGGTGTACCATCTTGTGGTCCAGCCTCCGGCGGCAGCCATACTTGGTGAACTGGGACCCTGAAGGCAGAGAGCTCGACGGGGGTCGGTGGGGCAGCATGCCCTGCCCGAGGGTGCAAGGAGGGGTGGGCTGCACCAGCAGTGCTGGCCTCGTTTTCCTGCTCACCCTTGTGATGACAATAAGGGTGGGCAGGGCACCGAGCCTGCGGCTGGC... | pathogenic | 104,430 |
The mutation impacting ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2) on chromosome 5 at position 179132329: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ACTGCTCCCTCGGGACCAGATTACCCTCCACTCGCATCCTCTGCCCCCACCAGCCCTGGAGGTGCCGGCTCCCCTTGGAAGCCACTCAGTAGCCGTCAAGGCCACCTACCCATACCCTATTGGGAGCACTCAGTGGGCGCTTAGAGGCCACCCGGGGCAGGATGGCTGGGAGGGGTCTGTACGCGGTGCAGGGCATCTGCTGGACAGGCGAGCACATGACCCTGCTGGAGTAGGGCTTCCTGCCATGGGGTGAGTATATGTCTGGCTGAAACAGCAGAACCCCCACCCCATCAGGGACCATGGCCCAGCCGAGGCCCCAG... | ACTGCTCCCTCGGGACCAGATTACCCTCCACTCGCATCCTCTGCCCCCACCAGCCCTGGAGGTGCCGGCTCCCCTTGGAAGCCACTCAGTAGCCGTCAAGGCCACCTACCCATACCCTATTGGGAGCACTCAGTGGGCGCTTAGAGGCCACCCGGGGCAGGATGGCTGGGAGGGGTCTGTACGCGGTGCAGGGCATCTGCTGGACAGGCGAGCACATGACCCTGCTGGAGTAGGGCTTCCTGCCATGGGGTGAGTATATGTCTGGCTGAAACAGCAGAACCCCCACCCCATCAGGGACCATGGCCCAGCCGAGGCCCCAG... | benign | 104,442 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 179136057, gene ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2). What disease(s) is it linked to if pathogenic? | benign | GCCCCTATCCTTCTTTAATACCCATGTCAGGAGTGACGTGATAGCCACACCCACGGAGACAGTGCATTAGTGATCTTCCCTCCCCGTTAGGTTTACAACCATGATCACAGCTGCCATCTGAAGCTACTTGTACTACAACTGTTTCCCATGCTTGCTGCCTGTATTAATTATGTTTTTGTTTTTCAAAACGTCCTATGTCTTGATATTTTGACATCTTAAAAATCTTCCTGTCTGGGGAGAGACTACACCTCCCAGGGGTATCCAGTTCTAAGGGACAGCAAAGCACTGGGTTGGGGACACACCTTTCACATGCAAGCCAG... | GCCCCTATCCTTCTTTAATACCCATGTCAGGAGTGACGTGATAGCCACACCCACGGAGACAGTGCATTAGTGATCTTCCCTCCCCGTTAGGTTTACAACCATGATCACAGCTGCCATCTGAAGCTACTTGTACTACAACTGTTTCCCATGCTTGCTGCCTGTATTAATTATGTTTTTGTTTTTCAAAACGTCCTATGTCTTGATATTTTGACATCTTAAAAATCTTCCTGTCTGGGGAGAGACTACACCTCCCAGGGGTATCCAGTTCTAAGGGACAGCAAAGCACTGGGTTGGGGACACACCTTTCACATGCAAGCCAG... | benign | 104,452 |
Regarding the variant at chromosome 5 and position 179344035, affecting gene ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Ehlers-Danlos_syndrome,_dermatosparaxis_type'] | TTCAAACAGCCCCCCAGGAGCACACTCTCCAAGTCCTGGCCAGAGTGTCCGTCAGCCACCCTGACGACAGGAGCCCTGGGTGGGTACCAGACCTGCCTCATTGCTGACCAGTACAGGGGATAAACATATGAGAAGGTGCTGGCTGAAAAATGAATCACCAAATGAACTGCTGAATGAATGAAACAGTGACAAGTCCTCCCCAAAATGCTCTCCATCAGGAATGCATAGTACACAGGTGTTGGCCCACCAACAGACTGCAACCCCATGTCAACTCCCACCACCTTACCTCACCCTAAGTCCGCAGCAAACATCTCCTTTCA... | TTCAAACAGCCCCCCAGGAGCACACTCTCCAAGTCCTGGCCAGAGTGTCCGTCAGCCACCCTGACGACAGGAGCCCTGGGTGGGTACCAGACCTGCCTCATTGCTGACCAGTACAGGGGATAAACATATGAGAAGGTGCTGGCTGAAAAATGAATCACCAAATGAACTGCTGAATGAATGAAACAGTGACAAGTCCTCCCCAAAATGCTCTCCATCAGGAATGCATAGTACACAGGTGTTGGCCCACCAACAGACTGCAACCCCATGTCAACTCCCACCACCTTACCTCACCCTAAGTCCGCAGCAAACATCTCCTTTCA... | pathogenic | 104,523 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 179345198, gene ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ehlers-Danlos_syndrome,_dermatosparaxis_type'] | GGCTAACTGGGCATTTCAGCATCACTGCCAGCTCCCTGGGCTGGTATTACCCGCACGCAAGGAAACAGGAAGACTGACTGCCAGCCCATAAGTCCACCACACACATATCACGCCAGTATGCACAAGGACGGACACAAACTCAACAGATGCTCAACACACTGATGTGCAGAAACCCAGACACATACGTGCACAAGAGACACTGGCACACGCACATGTTCACACAGGTGCACGGGCACCCAGATGCAGGTACACACCAACGTTCCACAACACATGTGCACACACTCACAAAGGTACACACACATACACGGACCCACCCCCGG... | GGCTAACTGGGCATTTCAGCATCACTGCCAGCTCCCTGGGCTGGTATTACCCGCACGCAAGGAAACAGGAAGACTGACTGCCAGCCCATAAGTCCACCACACACATATCACGCCAGTATGCACAAGGACGGACACAAACTCAACAGATGCTCAACACACTGATGTGCAGAAACCCAGACACATACGTGCACAAGAGACACTGGCACACGCACATGTTCACACAGGTGCACGGGCACCCAGATGCAGGTACACACCAACGTTCCACAACACATGTGCACACACTCACAAAGGTACACACACATACACGGACCCACCCCCGG... | pathogenic | 104,526 |
Variant on chromosome 5, at position 179345205, affecting ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ehlers-Danlos_syndrome,_dermatosparaxis_type'] | TGGGCATTTCAGCATCACTGCCAGCTCCCTGGGCTGGTATTACCCGCACGCAAGGAAACAGGAAGACTGACTGCCAGCCCATAAGTCCACCACACACATATCACGCCAGTATGCACAAGGACGGACACAAACTCAACAGATGCTCAACACACTGATGTGCAGAAACCCAGACACATACGTGCACAAGAGACACTGGCACACGCACATGTTCACACAGGTGCACGGGCACCCAGATGCAGGTACACACCAACGTTCCACAACACATGTGCACACACTCACAAAGGTACACACACATACACGGACCCACCCCCGGATGCAAG... | TGGGCATTTCAGCATCACTGCCAGCTCCCTGGGCTGGTATTACCCGCACGCAAGGAAACAGGAAGACTGACTGCCAGCCCATAAGTCCACCACACACATATCACGCCAGTATGCACAAGGACGGACACAAACTCAACAGATGCTCAACACACTGATGTGCAGAAACCCAGACACATACGTGCACAAGAGACACTGGCACACGCACATGTTCACACAGGTGCACGGGCACCCAGATGCAGGTACACACCAACGTTCCACAACACATGTGCACACACTCACAAAGGTACACACACATACACGGACCCACCCCCGGATGCAAG... | pathogenic | 104,527 |
Clinical significance of chromosome 5, position 179345228, gene ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GCTCCCTGGGCTGGTATTACCCGCACGCAAGGAAACAGGAAGACTGACTGCCAGCCCATAAGTCCACCACACACATATCACGCCAGTATGCACAAGGACGGACACAAACTCAACAGATGCTCAACACACTGATGTGCAGAAACCCAGACACATACGTGCACAAGAGACACTGGCACACGCACATGTTCACACAGGTGCACGGGCACCCAGATGCAGGTACACACCAACGTTCCACAACACATGTGCACACACTCACAAAGGTACACACACATACACGGACCCACCCCCGGATGCAAGCCAGAGACCTGTTCAGGCAGGCA... | GCTCCCTGGGCTGGTATTACCCGCACGCAAGGAAACAGGAAGACTGACTGCCAGCCCATAAGTCCACCACACACATATCACGCCAGTATGCACAAGGACGGACACAAACTCAACAGATGCTCAACACACTGATGTGCAGAAACCCAGACACATACGTGCACAAGAGACACTGGCACACGCACATGTTCACACAGGTGCACGGGCACCCAGATGCAGGTACACACCAACGTTCCACAACACATGTGCACACACTCACAAAGGTACACACACATACACGGACCCACCCCCGGATGCAAGCCAGAGACCTGTTCAGGCAGGCA... | benign | 104,528 |
Is chromosome 5, position 179345258, gene ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GGAAACAGGAAGACTGACTGCCAGCCCATAAGTCCACCACACACATATCACGCCAGTATGCACAAGGACGGACACAAACTCAACAGATGCTCAACACACTGATGTGCAGAAACCCAGACACATACGTGCACAAGAGACACTGGCACACGCACATGTTCACACAGGTGCACGGGCACCCAGATGCAGGTACACACCAACGTTCCACAACACATGTGCACACACTCACAAAGGTACACACACATACACGGACCCACCCCCGGATGCAAGCCAGAGACCTGTTCAGGCAGGCAAAAGAGAGAGGCGCACGCTCCTGCCTGCTG... | GGAAACAGGAAGACTGACTGCCAGCCCATAAGTCCACCACACACATATCACGCCAGTATGCACAAGGACGGACACAAACTCAACAGATGCTCAACACACTGATGTGCAGAAACCCAGACACATACGTGCACAAGAGACACTGGCACACGCACATGTTCACACAGGTGCACGGGCACCCAGATGCAGGTACACACCAACGTTCCACAACACATGTGCACACACTCACAAAGGTACACACACATACACGGACCCACCCCCGGATGCAAGCCAGAGACCTGTTCAGGCAGGCAAAAGAGAGAGGCGCACGCTCCTGCCTGCTG... | benign | 104,530 |
A mutation at chromosome position 179823864 on chromosome 5 in gene SQSTM1 (sequestosome 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Neurodegeneration_with_ataxia', 'Neurodegeneration_with_ataxia,_dystonia,_and_gaze_palsy,_childhood-onset'] | GCTGGGGGTGGGGTTAGGGAGGTGGTTGTGGCCAGGAGGGCGGGAGGTGGCCAAGGCCGGCCCCTGGGAGGGTGCAGTGCTAGGACCTCCCTCTGGAGCGCTGCCAGCATACCAGGCCCTCTCCTATTCTTAAAAAAAAAAAAATTGTGATGTTATTGAGCTGTAACTGAAATAAGGGTTCACCCATTTAGTGTACAAGTCAGTGGTTTTCACTATTTTCATAGGTTTGTGGACCATATTCAGTGTGAGAGCTTTTCATCACCTTATAAACGCCATACATACCTTTTATCACCCTCTTATCCACATGCCCCCAGCAACCT... | GCTGGGGGTGGGGTTAGGGAGGTGGTTGTGGCCAGGAGGGCGGGAGGTGGCCAAGGCCGGCCCCTGGGAGGGTGCAGTGCTAGGACCTCCCTCTGGAGCGCTGCCAGCATACCAGGCCCTCTCCTATTCTTAAAAAAAAAAAAATTGTGATGTTATTGAGCTGTAACTGAAATAAGGGTTCACCCATTTAGTGTACAAGTCAGTGGTTTTCACTATTTTCATAGGTTTGTGGACCATATTCAGTGTGAGAGCTTTTCATCACCTTATAAACGCCATACATACCTTTTATCACCCTCTTATCCACATGCCCCCAGCAACCT... | pathogenic | 104,542 |
Is chromosome 5, position 179823968, gene SQSTM1 (sequestosome 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_1', 'Paget_disease_of_bone_2,_early-onset'] | CAGCATACCAGGCCCTCTCCTATTCTTAAAAAAAAAAAAATTGTGATGTTATTGAGCTGTAACTGAAATAAGGGTTCACCCATTTAGTGTACAAGTCAGTGGTTTTCACTATTTTCATAGGTTTGTGGACCATATTCAGTGTGAGAGCTTTTCATCACCTTATAAACGCCATACATACCTTTTATCACCCTCTTATCCACATGCCCCCAGCAACCTCCTTTCTGTATCTATTCATCTTGCAATCCTGGACATTTCATGTAAATAGAATCAGACAATGTAGTCTTGCAAGTGGTTTCTTTCACTTAGTGTAATGTGTTCAG... | CAGCATACCAGGCCCTCTCCTATTCTTAAAAAAAAAAAAATTGTGATGTTATTGAGCTGTAACTGAAATAAGGGTTCACCCATTTAGTGTACAAGTCAGTGGTTTTCACTATTTTCATAGGTTTGTGGACCATATTCAGTGTGAGAGCTTTTCATCACCTTATAAACGCCATACATACCTTTTATCACCCTCTTATCCACATGCCCCCAGCAACCTCCTTTCTGTATCTATTCATCTTGCAATCCTGGACATTTCATGTAAATAGAATCAGACAATGTAGTCTTGCAAGTGGTTTCTTTCACTTAGTGTAATGTGTTCAG... | pathogenic | 104,545 |
A genetic variant at chromosome 5, position 179824078, affecting gene SQSTM1 (sequestosome 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_1', 'Paget_disease_of_bone_2,_early-onset'] | ATTTTCATAGGTTTGTGGACCATATTCAGTGTGAGAGCTTTTCATCACCTTATAAACGCCATACATACCTTTTATCACCCTCTTATCCACATGCCCCCAGCAACCTCCTTTCTGTATCTATTCATCTTGCAATCCTGGACATTTCATGTAAATAGAATCAGACAATGTAGTCTTGCAAGTGGTTTCTTTCACTTAGTGTAATGTGTTCAGTGTTGTGGCACATATCAGAACTAGTTTTTTTTGGAGGAATAATATTCTGTTGTGTGGACAGGCCATGTTTTGTTTACCTGTTCATTAGTTGACAGACATTTGGGTTGTTT... | ATTTTCATAGGTTTGTGGACCATATTCAGTGTGAGAGCTTTTCATCACCTTATAAACGCCATACATACCTTTTATCACCCTCTTATCCACATGCCCCCAGCAACCTCCTTTCTGTATCTATTCATCTTGCAATCCTGGACATTTCATGTAAATAGAATCAGACAATGTAGTCTTGCAAGTGGTTTCTTTCACTTAGTGTAATGTGTTCAGTGTTGTGGCACATATCAGAACTAGTTTTTTTTGGAGGAATAATATTCTGTTGTGTGGACAGGCCATGTTTTGTTTACCTGTTCATTAGTTGACAGACATTTGGGTTGTTT... | pathogenic | 104,547 |
The genetic variant at chromosome 5, position 179833095, affecting gene SQSTM1 (sequestosome 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_1', 'Paget_disease_of_bone_2,_early-onset'] | AGAACAAAGTTACTTTCTGGTATACAGTCTTAATTATTTTAACCTTGGTTTGAACCACATGAAGAGAGAAACCCAAAATGAAGCACAGAGGTATTAGGAAACGGGGGACCTAACAGGACAGAGGGTGAACGTAAAGGGGGTCACAGCATCACAGCGCAGCCTCTGCCCAGAGAGCTGCCAGTCCTGGCTGGAACAGGAGGCTGCACAGCAAGCGGCACTCTCTATGGAAAACACCAGAACCAGTGGGGTCTCTGATCCACTTCACCCTTGTAGAAAACTATGGAGATGCTGTGGGAGAACATAGGGAAAGTTAGCAAATG... | AGAACAAAGTTACTTTCTGGTATACAGTCTTAATTATTTTAACCTTGGTTTGAACCACATGAAGAGAGAAACCCAAAATGAAGCACAGAGGTATTAGGAAACGGGGGACCTAACAGGACAGAGGGTGAACGTAAAGGGGGTCACAGCATCACAGCGCAGCCTCTGCCCAGAGAGCTGCCAGTCCTGGCTGGAACAGGAGGCTGCACAGCAAGCGGCACTCTCTATGGAAAACACCAGAACCAGTGGGGTCTCTGATCCACTTCACCCTTGTAGAAAACTATGGAGATGCTGTGGGAGAACATAGGGAAAGTTAGCAAATG... | pathogenic | 104,555 |
Mutation found at chromosome 5 position 179836419, gene SQSTM1 (sequestosome 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GCGAGCTATGGCCTATGGGCCAAGAGTAGTTCTTATTTTTGTTTATTTATTTATTTATTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGA... | GCGAGCTATGGCCTATGGGCCAAGAGTAGTTCTTATTTTTGTTTATTTATTTATTTATTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGA... | benign | 104,571 |
The mutation in gene SQSTM1 (sequestosome 1) at chromosome 5, position 179836439—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_1', 'Paget_disease_of_bone_2,_early-onset'] | CAAGAGTAGTTCTTATTTTTGTTTATTTATTTATTTATTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTC... | CAAGAGTAGTTCTTATTTTTGTTTATTTATTTATTTATTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTC... | pathogenic | 104,572 |
Clinical classification of chromosome 5, position 179836767, gene SQSTM1 (sequestosome 1): benign or pathogenic? Disease(s) if pathogenic? | benign | CGGGGTTGGGGGTAAGGTCACAGATCAACAGGATAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTTTCTATTCCACAAAGCCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACATCCCGGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTC... | CGGGGTTGGGGGTAAGGTCACAGATCAACAGGATAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTTTCTATTCCACAAAGCCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACATCCCGGACGGGGTGGCTGCCGGGCGGAGGGTCTCCTC... | benign | 104,582 |
Benign or pathogenic: chromosome 5, position 180614073, gene FLT4 (fms related receptor tyrosine kinase 4) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_lymphedema_type_I'] | CTGCTTCTTGCTCCAGGCCCCACCTTGAGCTGGGTCACAAGCCGGCTCCATCCCCCACCCTGGAGGAGCACCACGTGGGGAGGGAGAGATGTCAGCACACACAGGTCAAGGGTCCGTGTGTTCAGTGGAGTGGGGGACAGAACTGGCACCAGGTGAAGGAATACATCATGACGATGCCAGGGAGATGGGGCTGCCTCACAGGCCGGGGGGGACCAGCCTAGGATTCCCCTCGCGCAGGGACAGGCTCTGACTATCCACACAGCACCTGGAGCAGGCAGTGGAGCTGTGCAGCGGGTGTGTACTCAACAGAAAGATGCAAG... | CTGCTTCTTGCTCCAGGCCCCACCTTGAGCTGGGTCACAAGCCGGCTCCATCCCCCACCCTGGAGGAGCACCACGTGGGGAGGGAGAGATGTCAGCACACACAGGTCAAGGGTCCGTGTGTTCAGTGGAGTGGGGGACAGAACTGGCACCAGGTGAAGGAATACATCATGACGATGCCAGGGAGATGGGGCTGCCTCACAGGCCGGGGGGGACCAGCCTAGGATTCCCCTCGCGCAGGGACAGGCTCTGACTATCCACACAGCACCTGGAGCAGGCAGTGGAGCTGTGCAGCGGGTGTGTACTCAACAGAAAGATGCAAG... | pathogenic | 104,597 |
Located at chromosome 5 position 180625831, the variant affecting gene FLT4 (fms related receptor tyrosine kinase 4)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TGGCCGAGGCCTACAGACTGCAGGAAGGTCACCCGCTCTCGGCTGCTCTGCCCAGCACTCTGGAAGCCAGGTGGAAACCACATGGCAGTAATGGCCTCTCTCTCCTCCCTTCTCCTTCTCCCTGGGCACTCAGCAGCGCGGCTGGCCTGTACCTTATTCTTTCCCTCCACAAACTCGGTCCAGGTGTCCAGGCTCTCGATGGGGTTCACGGCATCCTGCGTGGTCACCGCCCTCCAGTCACGGCACTGTGGCATGAGGTCTTGCTGCTGCCGCCGCCGGCTGCCAGGACCAGAAGAGGCAAGGGCAGGTCAGGGATACAG... | TGGCCGAGGCCTACAGACTGCAGGAAGGTCACCCGCTCTCGGCTGCTCTGCCCAGCACTCTGGAAGCCAGGTGGAAACCACATGGCAGTAATGGCCTCTCTCTCCTCCCTTCTCCTTCTCCCTGGGCACTCAGCAGCGCGGCTGGCCTGTACCTTATTCTTTCCCTCCACAAACTCGGTCCAGGTGTCCAGGCTCTCGATGGGGTTCACGGCATCCTGCGTGGTCACCGCCCTCCAGTCACGGCACTGTGGCATGAGGTCTTGCTGCTGCCGCCGCCGGCTGCCAGGACCAGAAGAGGCAAGGGCAGGTCAGGGATACAG... | benign | 104,620 |
Mutation at chromosome 5, position 180630650, within FLT4 (fms related receptor tyrosine kinase 4): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Congenital_heart_defects,_multiple_types,_7'] | CAGTTAGGAAAAGCCCCTCGCTGTGCCCACCACACCCACATGTAACAGAAGGCTGGTACTGAAACCTTTCACAGTGTGGCAGGAACAGACAGACCTTCCATCTGAAATATCACATTATGGGCGGGTTCCTTGGGGGGTCTCCTGAGAGAGGCCCCCGCCATGCCTGGTCTCCGTGTGCAGGTCCTGACGGGGAGGACGCTGCCCGTCTTCCCCTATGGTCTGTTTTGCCCCTGGACTTGGAAGGGTATCGGCGGGGTCGGTGGGGAGCCAGGGCTGTTACCACTGGAACTCGGGCGGGGGGTACGCTGCCAGCTTCACGG... | CAGTTAGGAAAAGCCCCTCGCTGTGCCCACCACACCCACATGTAACAGAAGGCTGGTACTGAAACCTTTCACAGTGTGGCAGGAACAGACAGACCTTCCATCTGAAATATCACATTATGGGCGGGTTCCTTGGGGGGTCTCCTGAGAGAGGCCCCCGCCATGCCTGGTCTCCGTGTGCAGGTCCTGACGGGGAGGACGCTGCCCGTCTTCCCCTATGGTCTGTTTTGCCCCTGGACTTGGAAGGGTATCGGCGGGGTCGGTGGGGAGCCAGGGCTGTTACCACTGGAACTCGGGCGGGGGGTACGCTGCCAGCTTCACGG... | pathogenic | 104,645 |
Variant in gene FOXC1 (forkhead box C1), located at chromosome 6 position 1610522: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Axenfeld-Rieger_syndrome_type_3'] | CAGCGGAGCTGTTAAATGCGTCACGCACGCTTCTTCGCAGTCTCCTGAGCTCGCCACTTCCCCCAGCTTCTAGTGAACGACTTGGGATTCAGCCTCCGGGAGGGTCTCTCCTCAAGTCGCTAAAATGCAGAATCGCCGTGCCGGGGGAGGGAGGCCTGGCTCTTTCCCGCTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGAC... | CAGCGGAGCTGTTAAATGCGTCACGCACGCTTCTTCGCAGTCTCCTGAGCTCGCCACTTCCCCCAGCTTCTAGTGAACGACTTGGGATTCAGCCTCCGGGAGGGTCTCTCCTCAAGTCGCTAAAATGCAGAATCGCCGTGCCGGGGGAGGGAGGCCTGGCTCTTTCCCGCTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGAC... | pathogenic | 104,673 |
A genetic variant on chromosome 6, position 1610525, affects the gene FOXC1 (forkhead box C1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CGGAGCTGTTAAATGCGTCACGCACGCTTCTTCGCAGTCTCCTGAGCTCGCCACTTCCCCCAGCTTCTAGTGAACGACTTGGGATTCAGCCTCCGGGAGGGTCTCTCCTCAAGTCGCTAAAATGCAGAATCGCCGTGCCGGGGGAGGGAGGCCTGGCTCTTTCCCGCTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTT... | CGGAGCTGTTAAATGCGTCACGCACGCTTCTTCGCAGTCTCCTGAGCTCGCCACTTCCCCCAGCTTCTAGTGAACGACTTGGGATTCAGCCTCCGGGAGGGTCTCTCCTCAAGTCGCTAAAATGCAGAATCGCCGTGCCGGGGGAGGGAGGCCTGGCTCTTTCCCGCTCCTTCGTTTCTTTCCCTCATTTCTCTTCTTCCTGTCCCATTCCAACCACCCAGCGACGGCGAATCTCAGGCGTGTGCACAACGAGCGGGGGCCCTTCCGTGCGTGTCCCCCCAGAATCCTTGAACCGCCCTCTAGGTGCGACCCTGGACGTT... | benign | 104,674 |
Mutation at chromosome 6, position 1610945, within FOXC1 (forkhead box C1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Axenfeld-Rieger_syndrome_type_3'] | CTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGG... | CTTCTTGTCATCACACCTGCTAATGTCACCGAGCCCGCAGCCTGACCCCTCATCTGAGCCGAAACGGGCCTGACGGGATCAGAGGGGGCGGCGGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGG... | pathogenic | 104,690 |
Is the chromosome 6, position 1611037 variant in FOXC1 (forkhead box C1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Axenfeld-Rieger_syndrome_type_3'] | GGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTC... | GGCGCGGCGAGCCGGTGGGACCCTCGCGGGCGGGCAGGGGAGCGCGGGGCAGCAGCCGGGCTCCGGCAGCCCTCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTC... | pathogenic | 104,693 |
Evaluate if the mutation on chromosome 6 at position 1611109 in FOXC1 (forkhead box C1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Axenfeld-Rieger_syndrome_type_3', 'Hypertelorism_and_tetralogy_of_fallot'] | TCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAG... | TCGCCGCCCGCACCCTCAGGCCGCCAAGGGCCGGCCCCCCGGGGAGGGGGGCGAGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAG... | pathogenic | 104,694 |
A genetic alteration at chromosome 6, position 1611162, in gene FOXC1 (forkhead box C1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Anterior_segment_dysgenesis_3', 'Axenfeld-Rieger_syndrome_type_3'] | AGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGG... | AGAAGCAGGGCGGCCCGCAGCGGGGCGGGCTCATCCTTCGCGGGTGAACGGCCGTCGGAAACTCCCAGCAGGGCCCCGCACCCCTTGCCTTCATTTCGGCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGG... | pathogenic | 104,695 |
Chromosome 6, position 1611260, gene FOXC1 (forkhead box C1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Axenfeld-Rieger_syndrome_type_3'] | GCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTC... | GCTGGGGAGGGGTCATGGAGGGGGGCCAGATGGGCGACGAACCTTCTTCCCCACCGCGAGCAGGGCCTGGCTGTGACCGAGCCCTCAAAATCATGTCCTTTGTAGCCGAGTTCAGGACAGGAGAACCTCCAAGTGGAGAAAAGCCGGAGACGTCAGTGACCCGAGTGAGACTGGCGTTGGAGAAGGGAGGGAAGGGGCTGCGGGAGGGGAGAGGCGGCGGGGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTC... | pathogenic | 104,699 |
The mutation impacting FOXC1 (forkhead box C1) on chromosome 6 at position 1611480: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Anterior_segment_dysgenesis_3', 'Axenfeld-Rieger_anomaly_with_partially_absent_eye_muscles,_distinctive_face,_hydrocephaly,_and_skeletal_abnormalities', 'Axenfeld-Rieger_syndrome_type_3'] | GGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGC... | GGAGGAGAGGCTGGGGCAACCCCAGCGCTGGCGTCGGCGGGGCTGGCGAAGGAATGAGAGCGAGCCAGCACGAGGCGGGGCGGAGACGCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGC... | pathogenic | 104,703 |
Clinical classification of chromosome 6, position 1611567, gene FOXC1 (forkhead box C1): benign or pathogenic? Disease(s) if pathogenic? | benign | GCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCC... | GCCAGGGCCACTCGGGAGCCGTGGGCGAAGGAAGGGTCTGCACGGGGTCCCGGGAGGACCCAGGAAGTCTGCGCGAACGGCGGGCGTGGGTCCGGAGGGCCCGGGGTGGGAGGTCTGCCGGGCGCCGGCGGCAGGCAGGTGGACTGCGGGGGGCGAACCGACGGCGGGCCGGGCGCCGGCGCGGGCGCAGGGCCGGGGCCCGGGCCAGGGCGGCCGGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCC... | benign | 104,705 |
Clinical significance of chromosome 6, position 1611782, gene FOXC1 (forkhead box C1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCG... | GGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCG... | benign | 104,708 |
A genetic alteration at chromosome 6, position 1611782, in gene FOXC1 (forkhead box C1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCG... | GGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCG... | benign | 104,709 |
Considering the variant on chromosome 6, location 1611782, involving gene FOXC1 (forkhead box C1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCG... | GGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCG... | benign | 104,710 |
The mutation impacting FOXC1 (forkhead box C1) on chromosome 6 at position 1611782: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCG... | GGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCG... | benign | 104,711 |
Mutation found at chromosome 6 position 1611782, gene FOXC1 (forkhead box C1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCG... | GGCGCGCGTGTGGTCAGCCCCGCGGTCCTCCGGCCTCCGGGAGCGGGCCGGCAGGGCTCGGCCTCCGGCTCATTCGGAGGCGGTTCTCACCTCCCATTGGCTGCCGCCGCTGGCGGGGCGGGGCTCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCG... | benign | 104,712 |
Does the genetic variant at chromosome 6, position 1611906, impacting gene FOXC1 (forkhead box C1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGC... | TCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGC... | benign | 104,716 |
Is the genetic mutation found on chromosome 6 at position 1611906, within the gene FOXC1 (forkhead box C1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGC... | TCCGCTGCCCGGAAAAAAGTGTAACTGCGTAAAAAAGTCCTCGCCTGGGTGACGGATGCTCAAAAGTTCAGAAGTTTTCCCAATGCTTCCTTAAGCGGCTGGCGCGCGAGAGACCGAGAAAAGGTGACGCGGGGCCCGGGCAGGCGGCCGGCGCGCGGCCCCCCCCCCCCCCGCCCTGGTTATTTGGCCGCCTTCGCCGGCAGCTCAGGGCAGAGTCTCCTGGAAGGCGCAGGCAGTGTGGCGAGAAGGGCGCCTGCTTGTTCTTTCTTTTTGTCTGCTTTCCCCCGTTTGCGCCTGGAAGCTGCGCCGCGAGTTCCTGC... | benign | 104,717 |
Determine whether the variant at chromosome 6, position 5260742, in gene FARS2 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AAATGATTATCAGATTCCTTTGGATAATATATTTATATTTGGATAGTAAATTTAGCTTAAAAGTATATGCTTAAGGTATAATTTGATCAATTATTTTCTGAATGCATATGATCTTACAGTTGCCCATACTGAAACCCATTTTCAATTTTCTGCCTTTCAGGTAGAGTCTTGAATGATTTTCCTAAAGTTTGAATGATTTTCCTGTTGAGTTTCGTGAATGATTTTCCTGTTCAGTTGGCAATTACTCATTTGAAAACGCTTGGGCCTCATTTGCTCATAAATCATTTCCAAAGAGAATTTCAGAAATGGAAGGGTCCTTA... | AAATGATTATCAGATTCCTTTGGATAATATATTTATATTTGGATAGTAAATTTAGCTTAAAAGTATATGCTTAAGGTATAATTTGATCAATTATTTTCTGAATGCATATGATCTTACAGTTGCCCATACTGAAACCCATTTTCAATTTTCTGCCTTTCAGGTAGAGTCTTGAATGATTTTCCTAAAGTTTGAATGATTTTCCTGTTGAGTTTCGTGAATGATTTTCCTGTTCAGTTGGCAATTACTCATTTGAAAACGCTTGGGCCTCATTTGCTCATAAATCATTTCCAAAGAGAATTTCAGAAATGGAAGGGTCCTTA... | benign | 104,815 |
Variant in gene FARS2 (phenylalanyl-tRNA synthetase 2, mitochondrial), located at chromosome 6 position 5431059: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_14', 'FARS2-related_disorder', 'Hereditary_spastic_paraplegia_77', 'Inborn_genetic_diseases', 'Leigh_syndrome'] | ATTCTAGGAAATGCAAACTCATCTATAGTGGCAGAACAAATCAGTGGTTGCCTACAGATGTGGGGGGTCAGGAGAAGAGTGGGGCAGTGGGCAGGTGGGTAGGATTACAAAGGGGCATGAGAAAGCTGGGAGGTGATGTTTATGTTCATTGTCTTGATTGTGGTGACAGTATCATGGGTGCATATCTGTGTCAACATTTGTCACATTATACACTTTATATCTGTGCACTTTAATGTTTGTCTATTTAACACAGAGAAAATAAGAGGGGGAAATATTGTATTACTGTTGTAAACAGAAATCAGTTGACACTTGTCATAGAC... | ATTCTAGGAAATGCAAACTCATCTATAGTGGCAGAACAAATCAGTGGTTGCCTACAGATGTGGGGGGTCAGGAGAAGAGTGGGGCAGTGGGCAGGTGGGTAGGATTACAAAGGGGCATGAGAAAGCTGGGAGGTGATGTTTATGTTCATTGTCTTGATTGTGGTGACAGTATCATGGGTGCATATCTGTGTCAACATTTGTCACATTATACACTTTATATCTGTGCACTTTAATGTTTGTCTATTTAACACAGAGAAAATAAGAGGGGGAAATATTGTATTACTGTTGTAAACAGAAATCAGTTGACACTTGTCATAGAC... | pathogenic | 104,841 |
Does the variant impacting FARS2 (phenylalanyl-tRNA synthetase 2, mitochondrial) on chromosome 6, position 5545218, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_14'] | TGTAGCTTATAGCCTGTGTTCCCATTTGTCTTGATGATTGCCTTGATGCCAAGTGATAACCGCAGGTGCTGGTGTTTCACTTATAATGAAGCCTTTTCCCTCCTGGACTTTGCACACCTAATCCTGAAGCTCCATGAATGTTCTGGTTCAGCTAGAGCGAATGGGGATTTGTGAAACAATTATAAGGGTTTTCTGTTGTTGGTGGTGGTTTTTTTTTTTTTTTCTCACTCTGTGGACCAAGCTGGAGTGCCATGGCACAATTTCAGCTTACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTTTCTTGCCTCAGCCTCCC... | TGTAGCTTATAGCCTGTGTTCCCATTTGTCTTGATGATTGCCTTGATGCCAAGTGATAACCGCAGGTGCTGGTGTTTCACTTATAATGAAGCCTTTTCCCTCCTGGACTTTGCACACCTAATCCTGAAGCTCCATGAATGTTCTGGTTCAGCTAGAGCGAATGGGGATTTGTGAAACAATTATAAGGGTTTTCTGTTGTTGGTGGTGGTTTTTTTTTTTTTTTCTCACTCTGTGGACCAAGCTGGAGTGCCATGGCACAATTTCAGCTTACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTTTCTTGCCTCAGCCTCCC... | pathogenic | 104,848 |
Does the variant impacting RREB1 (ras responsive element binding protein 1) on chromosome 6, position 7246979, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TAGTTACACCTGATCACGTCAAGTGAGAATCCAGGTTAGGTGCGTGAATCTGCTGGCTCAAGGACTGCAATCACATCTGGCCTATTGAGGGAGGGGCATCTCGTACTTGTGCCATAAAACAATGACTTTCATCCACCCAATTATCAGAGGAACTTGAATCCCTGCAGTAATAAATCAGACAGTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCGAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATCAG... | TAGTTACACCTGATCACGTCAAGTGAGAATCCAGGTTAGGTGCGTGAATCTGCTGGCTCAAGGACTGCAATCACATCTGGCCTATTGAGGGAGGGGCATCTCGTACTTGTGCCATAAAACAATGACTTTCATCCACCCAATTATCAGAGGAACTTGAATCCCTGCAGTAATAAATCAGACAGTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCGAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATCAG... | benign | 104,905 |
Clinical classification of chromosome 6, position 7555788, gene DSP (desmoplakin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | ATTGGTGGTGGGTGGGGGCAGTCTTGGTTTCGAGAGCTGGATGGCTCTGGCACCACCTCCCCTGGGCCTGCCTGGAGGAGCCTGTGTCTTCTTCTGGGAGTAGTTCCCAGGGAGGTCTGGGCTCCTCACCCACATTCATCTAGTCCTGGCTTGTTGGGGAGCCTTGCCTGCAGGGAGGAACCCCAAATGGGTGGCCAAAAAAGAAATGCTTTCCCATGGTGAGACAGTGCAGCCAGGTGCTTCGGGAGAATTCCCACATTACTGTGATCTTATCCCATCTATGCATAATGCAACCATTGTTTGTCAAACATTTTTTTTTA... | ATTGGTGGTGGGTGGGGGCAGTCTTGGTTTCGAGAGCTGGATGGCTCTGGCACCACCTCCCCTGGGCCTGCCTGGAGGAGCCTGTGTCTTCTTCTGGGAGTAGTTCCCAGGGAGGTCTGGGCTCCTCACCCACATTCATCTAGTCCTGGCTTGTTGGGGAGCCTTGCCTGCAGGGAGGAACCCCAAATGGGTGGCCAAAAAAGAAATGCTTTCCCATGGTGAGACAGTGCAGCCAGGTGCTTCGGGAGAATTCCCACATTACTGTGATCTTATCCCATCTATGCATAATGCAACCATTGTTTGTCAAACATTTTTTTTTA... | pathogenic | 104,944 |
Considering the genetic mutation at chromosome 6, position 7555819, impacting DSP (desmoplakin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Arrhythmogenic_right_ventricular_cardiomyopathy', 'Primary_dilated_cardiomyopathy'] | GAGAGCTGGATGGCTCTGGCACCACCTCCCCTGGGCCTGCCTGGAGGAGCCTGTGTCTTCTTCTGGGAGTAGTTCCCAGGGAGGTCTGGGCTCCTCACCCACATTCATCTAGTCCTGGCTTGTTGGGGAGCCTTGCCTGCAGGGAGGAACCCCAAATGGGTGGCCAAAAAAGAAATGCTTTCCCATGGTGAGACAGTGCAGCCAGGTGCTTCGGGAGAATTCCCACATTACTGTGATCTTATCCCATCTATGCATAATGCAACCATTGTTTGTCAAACATTTTTTTTTAAACAGTGAAATTCTTTCTTTAAAACACACAC... | GAGAGCTGGATGGCTCTGGCACCACCTCCCCTGGGCCTGCCTGGAGGAGCCTGTGTCTTCTTCTGGGAGTAGTTCCCAGGGAGGTCTGGGCTCCTCACCCACATTCATCTAGTCCTGGCTTGTTGGGGAGCCTTGCCTGCAGGGAGGAACCCCAAATGGGTGGCCAAAAAAGAAATGCTTTCCCATGGTGAGACAGTGCAGCCAGGTGCTTCGGGAGAATTCCCACATTACTGTGATCTTATCCCATCTATGCATAATGCAACCATTGTTTGTCAAACATTTTTTTTTAAACAGTGAAATTCTTTCTTTAAAACACACAC... | pathogenic | 104,947 |
Gene DSP (desmoplakin) variant at chromosome position 7559210 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GCAGAGGAGGAAGCTTTCTGTTTTTGTTTTTCTGAATACAAAAGCCTTTTTAAATTTTGAAGTAGTTATAGACTCATAAGAAGTTGCAAAAATAGTACAAAGGGGTCTCTACCCAGCACCCAGCTTCGCCCAGTAGTGACATCTTATATGATTATAGCGCATCATCAAAACCAGGACATTGATTGGCCCAATACAGTTAACCAGGCAGAAGCCTTCTTTTTAAGAACTAAAACGTTGGCCAGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGTATCACTTGAGGTCAGGAGTTCAAGA... | GCAGAGGAGGAAGCTTTCTGTTTTTGTTTTTCTGAATACAAAAGCCTTTTTAAATTTTGAAGTAGTTATAGACTCATAAGAAGTTGCAAAAATAGTACAAAGGGGTCTCTACCCAGCACCCAGCTTCGCCCAGTAGTGACATCTTATATGATTATAGCGCATCATCAAAACCAGGACATTGATTGGCCCAATACAGTTAACCAGGCAGAAGCCTTCTTTTTAAGAACTAAAACGTTGGCCAGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGTATCACTTGAGGTCAGGAGTTCAAGA... | benign | 104,964 |
Does the variant impacting DSP (desmoplakin) on chromosome 6, position 7559266, 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', 'Cardiomyopathy'] | TTGAAGTAGTTATAGACTCATAAGAAGTTGCAAAAATAGTACAAAGGGGTCTCTACCCAGCACCCAGCTTCGCCCAGTAGTGACATCTTATATGATTATAGCGCATCATCAAAACCAGGACATTGATTGGCCCAATACAGTTAACCAGGCAGAAGCCTTCTTTTTAAGAACTAAAACGTTGGCCAGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGTATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCT... | TTGAAGTAGTTATAGACTCATAAGAAGTTGCAAAAATAGTACAAAGGGGTCTCTACCCAGCACCCAGCTTCGCCCAGTAGTGACATCTTATATGATTATAGCGCATCATCAAAACCAGGACATTGATTGGCCCAATACAGTTAACCAGGCAGAAGCCTTCTTTTTAAGAACTAAAACGTTGGCCAGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGTATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCT... | pathogenic | 104,969 |
Variant in DSP (desmoplakin), chromosome 6, position 7559373—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', 'Primary_dilated_cardiomyopathy'] | ATCAAAACCAGGACATTGATTGGCCCAATACAGTTAACCAGGCAGAAGCCTTCTTTTTAAGAACTAAAACGTTGGCCAGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGTATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACATGCCTGTAGTCTCAGCTACTCAGGAGCCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGC... | ATCAAAACCAGGACATTGATTGGCCCAATACAGTTAACCAGGCAGAAGCCTTCTTTTTAAGAACTAAAACGTTGGCCAGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGTATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACATGCCTGTAGTCTCAGCTACTCAGGAGCCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGC... | pathogenic | 104,978 |
Evaluate the clinical significance of the mutation at chromosome 6, position 7562699 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', 'Cardiovascular_phenotype'] | AGTTAGAGGGGAGGGTGGCCAGCTCCTGTGGAGTGGAACAGTCACAGGAAGACATAGCGGAGCTGATGGGGCTTAACTACATCTTAAGGATCCACAATGATGGGCAAAACAGCCTTCCAATCAAATTAGTTTGAAATGTCATATCTCCTAAAGTTTTCTTAGTATGACAGTTATAAAAAAAGACAGCCTGTAATTTGTCATTTTTTTGTATTTATGTTGGGTGTAGCTTAAGAATGTAGTAAATGCTCAATGTCTTTAAATTTTGGAAAAGTATTACCACATGAATTCAGTTTTATGTCATTTTCTTTTTTTTTTTTTTG... | AGTTAGAGGGGAGGGTGGCCAGCTCCTGTGGAGTGGAACAGTCACAGGAAGACATAGCGGAGCTGATGGGGCTTAACTACATCTTAAGGATCCACAATGATGGGCAAAACAGCCTTCCAATCAAATTAGTTTGAAATGTCATATCTCCTAAAGTTTTCTTAGTATGACAGTTATAAAAAAAGACAGCCTGTAATTTGTCATTTTTTTGTATTTATGTTGGGTGTAGCTTAAGAATGTAGTAAATGCTCAATGTCTTTAAATTTTGGAAAAGTATTACCACATGAATTCAGTTTTATGTCATTTTCTTTTTTTTTTTTTTG... | pathogenic | 104,985 |
Assess the variant on chromosome 6, position 7562762, impacting DSP (desmoplakin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype', 'Primary_dilated_cardiomyopathy'] | TGATGGGGCTTAACTACATCTTAAGGATCCACAATGATGGGCAAAACAGCCTTCCAATCAAATTAGTTTGAAATGTCATATCTCCTAAAGTTTTCTTAGTATGACAGTTATAAAAAAAGACAGCCTGTAATTTGTCATTTTTTTGTATTTATGTTGGGTGTAGCTTAAGAATGTAGTAAATGCTCAATGTCTTTAAATTTTGGAAAAGTATTACCACATGAATTCAGTTTTATGTCATTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTCACTCTGTTGCCCAGGCAGGAGTGCAGTGGCATGATCTCGTCTCACTGCAAC... | TGATGGGGCTTAACTACATCTTAAGGATCCACAATGATGGGCAAAACAGCCTTCCAATCAAATTAGTTTGAAATGTCATATCTCCTAAAGTTTTCTTAGTATGACAGTTATAAAAAAAGACAGCCTGTAATTTGTCATTTTTTTGTATTTATGTTGGGTGTAGCTTAAGAATGTAGTAAATGCTCAATGTCTTTAAATTTTGGAAAAGTATTACCACATGAATTCAGTTTTATGTCATTTTCTTTTTTTTTTTTTTGAGAGGGAGTCTCACTCTGTTGCCCAGGCAGGAGTGCAGTGGCATGATCTCGTCTCACTGCAAC... | pathogenic | 104,990 |
Variant chromosome 6, position 7565507, gene DSP (desmoplakin): benign or pathogenic? Disease(s)? | 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', ... | TTAAACTTTAAGACAATTTTCTAACACGTGAGTCTTTAAGTGACCCTGATCTGGGCTTTCCTTTGTGGAGACGGTGCTGCCAGGCCAGCAAGGGTTTGCTTTCCAACCGCCTAGGAAAAAGTCCCCATGGGTGAAATATCTCATAGAGCTAGTAATTCTTTCTTTCTATGGAGGGATCTGAGGCCAGTATCTGAAGAAAAGGAGGCTTAGAAGGGCCACTCTTTTCTATACAATCCACAAGGGGATTTATATCTACCTGCTTTTTGTTGTCTTCTAGCGCGAGAAATCTGCGATCTACCAGTTGGAGGAGGAGTATGAAA... | TTAAACTTTAAGACAATTTTCTAACACGTGAGTCTTTAAGTGACCCTGATCTGGGCTTTCCTTTGTGGAGACGGTGCTGCCAGGCCAGCAAGGGTTTGCTTTCCAACCGCCTAGGAAAAAGTCCCCATGGGTGAAATATCTCATAGAGCTAGTAATTCTTTCTTTCTATGGAGGGATCTGAGGCCAGTATCTGAAGAAAAGGAGGCTTAGAAGGGCCACTCTTTTCTATACAATCCACAAGGGGATTTATATCTACCTGCTTTTTGTTGTCTTCTAGCGCGAGAAATCTGCGATCTACCAGTTGGAGGAGGAGTATGAAA... | pathogenic | 105,020 |
Gene mutation in DSP (desmoplakin) at chromosome 6, position 7565529—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AACACGTGAGTCTTTAAGTGACCCTGATCTGGGCTTTCCTTTGTGGAGACGGTGCTGCCAGGCCAGCAAGGGTTTGCTTTCCAACCGCCTAGGAAAAAGTCCCCATGGGTGAAATATCTCATAGAGCTAGTAATTCTTTCTTTCTATGGAGGGATCTGAGGCCAGTATCTGAAGAAAAGGAGGCTTAGAAGGGCCACTCTTTTCTATACAATCCACAAGGGGATTTATATCTACCTGCTTTTTGTTGTCTTCTAGCGCGAGAAATCTGCGATCTACCAGTTGGAGGAGGAGTATGAAAACCTGCTGGTAAGCTGATTTAT... | AACACGTGAGTCTTTAAGTGACCCTGATCTGGGCTTTCCTTTGTGGAGACGGTGCTGCCAGGCCAGCAAGGGTTTGCTTTCCAACCGCCTAGGAAAAAGTCCCCATGGGTGAAATATCTCATAGAGCTAGTAATTCTTTCTTTCTATGGAGGGATCTGAGGCCAGTATCTGAAGAAAAGGAGGCTTAGAAGGGCCACTCTTTTCTATACAATCCACAAGGGGATTTATATCTACCTGCTTTTTGTTGTCTTCTAGCGCGAGAAATCTGCGATCTACCAGTTGGAGGAGGAGTATGAAAACCTGCTGGTAAGCTGATTTAT... | benign | 105,022 |
Evaluate the clinical significance of the mutation at chromosome 6, position 7567363 in gene DSP (desmoplakin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype'] | CTGCATATTGTTATTTTAATGCTGCCTTTGAACCTCCTGTGCAGAAAGCGTCCTTTGAGAGGATGGATCACCTGCGACAGCTGCAGAACATCATTCAGGCCACGTCCAGGGAGATCATGTGGATCAATGACTGCGAGGAGGAGGAGCTGCTGTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAACAGGAGGCCTTCTCCGTAAGTTCACCCCACGCGGCTGTAGATGCTTGTCTTGAGCCTGTTGCCTTGAAGAGCTGGGGTCTCGGGGAATGATTGGTCTATTAATAATTTAATCAGCCACTTGCAATTCAG... | CTGCATATTGTTATTTTAATGCTGCCTTTGAACCTCCTGTGCAGAAAGCGTCCTTTGAGAGGATGGATCACCTGCGACAGCTGCAGAACATCATTCAGGCCACGTCCAGGGAGATCATGTGGATCAATGACTGCGAGGAGGAGGAGCTGCTGTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAACAGGAGGCCTTCTCCGTAAGTTCACCCCACGCGGCTGTAGATGCTTGTCTTGAGCCTGTTGCCTTGAAGAGCTGGGGTCTCGGGGAATGATTGGTCTATTAATAATTTAATCAGCCACTTGCAATTCAG... | pathogenic | 105,040 |
Determine whether the variant at chromosome 6, position 7567366, in gene DSP (desmoplakin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | CATATTGTTATTTTAATGCTGCCTTTGAACCTCCTGTGCAGAAAGCGTCCTTTGAGAGGATGGATCACCTGCGACAGCTGCAGAACATCATTCAGGCCACGTCCAGGGAGATCATGTGGATCAATGACTGCGAGGAGGAGGAGCTGCTGTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAACAGGAGGCCTTCTCCGTAAGTTCACCCCACGCGGCTGTAGATGCTTGTCTTGAGCCTGTTGCCTTGAAGAGCTGGGGTCTCGGGGAATGATTGGTCTATTAATAATTTAATCAGCCACTTGCAATTCAGCCT... | CATATTGTTATTTTAATGCTGCCTTTGAACCTCCTGTGCAGAAAGCGTCCTTTGAGAGGATGGATCACCTGCGACAGCTGCAGAACATCATTCAGGCCACGTCCAGGGAGATCATGTGGATCAATGACTGCGAGGAGGAGGAGCTGCTGTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAACAGGAGGCCTTCTCCGTAAGTTCACCCCACGCGGCTGTAGATGCTTGTCTTGAGCCTGTTGCCTTGAAGAGCTGGGGTCTCGGGGAATGATTGGTCTATTAATAATTTAATCAGCCACTTGCAATTCAGCCT... | pathogenic | 105,041 |
Variant on chromosome 6, at position 7567425, affecting DSP (desmoplakin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | ATGGATCACCTGCGACAGCTGCAGAACATCATTCAGGCCACGTCCAGGGAGATCATGTGGATCAATGACTGCGAGGAGGAGGAGCTGCTGTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAACAGGAGGCCTTCTCCGTAAGTTCACCCCACGCGGCTGTAGATGCTTGTCTTGAGCCTGTTGCCTTGAAGAGCTGGGGTCTCGGGGAATGATTGGTCTATTAATAATTTAATCAGCCACTTGCAATTCAGCCTTCTTTGAAATGGTCGTGAAAAATCCTTCCTTCCTGAAAACTTCTCCGTGTGGAGGCCAT... | ATGGATCACCTGCGACAGCTGCAGAACATCATTCAGGCCACGTCCAGGGAGATCATGTGGATCAATGACTGCGAGGAGGAGGAGCTGCTGTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAACAGGAGGCCTTCTCCGTAAGTTCACCCCACGCGGCTGTAGATGCTTGTCTTGAGCCTGTTGCCTTGAAGAGCTGGGGTCTCGGGGAATGATTGGTCTATTAATAATTTAATCAGCCACTTGCAATTCAGCCTTCTTTGAAATGGTCGTGAAAAATCCTTCCTTCCTGAAAACTTCTCCGTGTGGAGGCCAT... | pathogenic | 105,046 |
For chromosome 6, position 7567780, gene DSP (desmoplakin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy', 'Cardiovascular_phenotype'] | AATACCACATGTTCTCACTTAGGAGTGGGAACTAAATGATGAGAATACATGGATACATCGAGGGCAACAACACACACTGGGGCCTTTCGGAGGGCAGAGGGTGGAGGTGGAAGGAGGGAGAGGATCAGGCAAGATAACTAATGGGTACTAGGCTTAATCGTGGGTGATGAAATAACCTGTACAACAAATCCCTGTGATACAAGTTTACCTGTGTAACAAACCTGCACATGTATCCCTGAACTTAAAATAAAAGTTAAAAAGAAAAAGAGGGGCAATACCTTGTTTAATATCCCAGAAGACCGTAGTTTGTTTAGAGAGGA... | AATACCACATGTTCTCACTTAGGAGTGGGAACTAAATGATGAGAATACATGGATACATCGAGGGCAACAACACACACTGGGGCCTTTCGGAGGGCAGAGGGTGGAGGTGGAAGGAGGGAGAGGATCAGGCAAGATAACTAATGGGTACTAGGCTTAATCGTGGGTGATGAAATAACCTGTACAACAAATCCCTGTGATACAAGTTTACCTGTGTAACAAACCTGCACATGTATCCCTGAACTTAAAATAAAAGTTAAAAAGAAAAAGAGGGGCAATACCTTGTTTAATATCCCAGAAGACCGTAGTTTGTTTAGAGAGGA... | pathogenic | 105,053 |
Clinically, how would you classify the variant at chromosome 6, position 7567801, 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', 'Cardiovascular_phenotype'] | GGAGTGGGAACTAAATGATGAGAATACATGGATACATCGAGGGCAACAACACACACTGGGGCCTTTCGGAGGGCAGAGGGTGGAGGTGGAAGGAGGGAGAGGATCAGGCAAGATAACTAATGGGTACTAGGCTTAATCGTGGGTGATGAAATAACCTGTACAACAAATCCCTGTGATACAAGTTTACCTGTGTAACAAACCTGCACATGTATCCCTGAACTTAAAATAAAAGTTAAAAAGAAAAAGAGGGGCAATACCTTGTTTAATATCCCAGAAGACCGTAGTTTGTTTAGAGAGGATAAGAACTGGTACGTTCAGAT... | GGAGTGGGAACTAAATGATGAGAATACATGGATACATCGAGGGCAACAACACACACTGGGGCCTTTCGGAGGGCAGAGGGTGGAGGTGGAAGGAGGGAGAGGATCAGGCAAGATAACTAATGGGTACTAGGCTTAATCGTGGGTGATGAAATAACCTGTACAACAAATCCCTGTGATACAAGTTTACCTGTGTAACAAACCTGCACATGTATCCCTGAACTTAAAATAAAAGTTAAAAAGAAAAAGAGGGGCAATACCTTGTTTAATATCCCAGAAGACCGTAGTTTGTTTAGAGAGGATAAGAACTGGTACGTTCAGAT... | pathogenic | 105,057 |
A genetic alteration at chromosome 6, position 7567871, in gene DSP (desmoplakin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | GGGCAGAGGGTGGAGGTGGAAGGAGGGAGAGGATCAGGCAAGATAACTAATGGGTACTAGGCTTAATCGTGGGTGATGAAATAACCTGTACAACAAATCCCTGTGATACAAGTTTACCTGTGTAACAAACCTGCACATGTATCCCTGAACTTAAAATAAAAGTTAAAAAGAAAAAGAGGGGCAATACCTTGTTTAATATCCCAGAAGACCGTAGTTTGTTTAGAGAGGATAAGAACTGGTACGTTCAGATAACCCAGGATGTGTGTGGCACTGCAGGAGGGTGGGTGGAAGCCTGGGATTAGAAAACCTCAGGATGGATG... | GGGCAGAGGGTGGAGGTGGAAGGAGGGAGAGGATCAGGCAAGATAACTAATGGGTACTAGGCTTAATCGTGGGTGATGAAATAACCTGTACAACAAATCCCTGTGATACAAGTTTACCTGTGTAACAAACCTGCACATGTATCCCTGAACTTAAAATAAAAGTTAAAAAGAAAAAGAGGGGCAATACCTTGTTTAATATCCCAGAAGACCGTAGTTTGTTTAGAGAGGATAAGAACTGGTACGTTCAGATAACCCAGGATGTGTGTGGCACTGCAGGAGGGTGGGTGGAAGCCTGGGATTAGAAAACCTCAGGATGGATG... | pathogenic | 105,060 |
Does the chromosome 6 mutation at position 7568448 within gene DSP (desmoplakin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | TAAAGAAAAAGAGCTCAATAAGCTGAAACAAGAAAGTGACCAACTTGTCCTCAATCAGCATCCAGCTTCAGACAAAATTGAGGTAGGCTTCATGAGGTTTATATTTTTGTTAGAAAAAAAAAAACTTTTCATAAAGTAAGACTAACCAAATGAGTAATTCTTATATGACTTAAAGCCGTGCCAACTTTATTTTCTATTTTGGGATCAATACCCTACACCAGGGGTTGGCAAACTCTTTTCAGGAAAGGACCAGACAATCAGTATTTTAGACTTTCAGGCCATTTGGTCTCTGTTACAATTACTTAACCCTGCTATTATAG... | TAAAGAAAAAGAGCTCAATAAGCTGAAACAAGAAAGTGACCAACTTGTCCTCAATCAGCATCCAGCTTCAGACAAAATTGAGGTAGGCTTCATGAGGTTTATATTTTTGTTAGAAAAAAAAAAACTTTTCATAAAGTAAGACTAACCAAATGAGTAATTCTTATATGACTTAAAGCCGTGCCAACTTTATTTTCTATTTTGGGATCAATACCCTACACCAGGGGTTGGCAAACTCTTTTCAGGAAAGGACCAGACAATCAGTATTTTAGACTTTCAGGCCATTTGGTCTCTGTTACAATTACTTAACCCTGCTATTATAG... | pathogenic | 105,069 |
Regarding the variant at chromosome 6 and position 7571431, affecting gene DSP (desmoplakin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Arrhythmogenic_right_ventricular_cardiomyopathy', 'Cardiovascular_phenotype'] | TGTGAGGGCAGAGGAAGAGGGCAGGTGTTTATACCTGAAGCTTAGACACACGATGCCTTGCCATAATAAACACCTTCTAAAAAAAGGAACCTTGTGAAGGTCACCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGT... | TGTGAGGGCAGAGGAAGAGGGCAGGTGTTTATACCTGAAGCTTAGACACACGATGCCTTGCCATAATAAACACCTTCTAAAAAAAGGAACCTTGTGAAGGTCACCTTCACTTTGTCTTGCAATTTTATGTTGAATAGACAGTCGTTATTGAAGAATAAAAGGGAATATCTGGCCGGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTGGGGAGACCGAGGTGGGCGGATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACTCTGTCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGT... | pathogenic | 105,126 |
Considering the genetic mutation at chromosome 6, position 7571912, impacting DSP (desmoplakin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy'] | TGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAA... | TGGGGCCAGAGTGAATAATACTTGTCATGCACTTCAAAGGCATCATTTTAAGGTTCTCCTTTTCTTAGAAAATCAGTTGTTATACATGTAGCTACAAATATAAAATGCCTTTAATATCAATATTCACTCATTGTAGGAAGAACATTCGTTTAACAGGTTGTCCATGGCAGATTCCTTTAAACCATTTAGTATCGAAATCTTCAACCACACACTGAATAGGGAGAGTAGTGTAGTAAGCTGCTGTGTGCTCATGACCAAGCTTTGGGTCATTGGCATCTAATGCACCTGCCATCCTGCCTTAGACCTCTGTCAATTACAAA... | pathogenic | 105,152 |
Variant in DSP (desmoplakin), chromosome 6, position 7574080—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Cardiomyopathy'] | TTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGGTAGGTATCTGCTAGTATTTTGCCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATAT... | TTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGGTAGGTATCTGCTAGTATTTTGCCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATAT... | pathogenic | 105,164 |
Is the genetic change at chromosome 6, position 7574083, within 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', 'Left_ventricular_noncompaction_cardiomyopathy', 'Primary_dilated_cardiomyopathy', 'Ventricular_tachycardia'] | TCACCACATCACAGTGAAAATTAACGAGCTTAAGGTAGGTATCTGCTAGTATTTTGCCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATATGGG... | TCACCACATCACAGTGAAAATTAACGAGCTTAAGGTAGGTATCTGCTAGTATTTTGCCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATATGGG... | pathogenic | 105,165 |
Regarding the variant at chromosome 6 and position 7574139, 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'] | CCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATATGGGTTAGACAGGGGGAATGATCTTTATTTGTAGACATGACACTGACATGAAGAGATTTG... | CCTGGTTACCCTGTATATTTTTATTTACCTGTAAATGAATAAAAAAAATCCTGGTTTAAATGTTTGTAGGCAAAAATATTAACTTTCAAGAAAACAGGCTTCTGGCAGGATTTCCTTATGTATTATGTTTCCAAATTTGTAGACGGTTATCAGGCTGGGGGTTAAACTGTTCGTTTGTGTGTTGTTGAATCAGGCTACCGTCCATCTCAAAAGTTTTCACAACCATTAATTTGGCTTCTTGCAGAGAACAACCTATGATATGGGTTAGACAGGGGGAATGATCTTTATTTGTAGACATGACACTGACATGAAGAGATTTG... | pathogenic | 105,167 |
Gene DSP (desmoplakin) variant at chromosome 6, position 7575273—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CATTAGTAGACACATGACTATACACACACACAGTGGGGTACTATTTACCTTTAAAAAAGAAAGAGATCCTGGGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCATGACCAACATGGTGAAACCCCATCTCTACTAAAAAGTACAAAAATTAGCTGGGTGTGGTGGCGTGCGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCAC... | CATTAGTAGACACATGACTATACACACACACAGTGGGGTACTATTTACCTTTAAAAAAGAAAGAGATCCTGGGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCATGACCAACATGGTGAAACCCCATCTCTACTAAAAAGTACAAAAATTAGCTGGGTGTGGTGGCGTGCGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCAC... | benign | 105,193 |
The chromosome 6, position 7575471 genetic variant in gene DSP (desmoplakin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | CAAAAATTAGCTGGGTGTGGTGGCGTGCGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAGAAAGAGATCCTGCCATTTGCAAAAGCATGGATGAATGTGGGGGACATTATGCTAAGTGAAATACACCAGACACAAATACTGCTTGATTTCACTTATGTGTAAATTCTAAGAAAAAAGTTGAATGCAGGGAAACAGAGAGTAGGATG... | CAAAAATTAGCTGGGTGTGGTGGCGTGCGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAGAAAGAGATCCTGCCATTTGCAAAAGCATGGATGAATGTGGGGGACATTATGCTAAGTGAAATACACCAGACACAAATACTGCTTGATTTCACTTATGTGTAAATTCTAAGAAAAAAGTTGAATGCAGGGAAACAGAGAGTAGGATG... | pathogenic | 105,203 |
Determine whether the variant at chromosome 6, position 7576285, in gene DSP (desmoplakin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | ATGGCTACTTAAATAGGTAAACTCAGCTAACACTAATCTCATATTTTCCTTTTCTCAAGCTTCTTTTTCTGGGTCTTCATTTGCTTTAGATGCTTGCCTTACAGTTTCTCTGTTACTAGAGATTTACTTACATCCTTCTGTGGTTTGGAGAGCATGTTAATTCCGCTAGCCTCGCATGTTAATTCCACTATTCTGAACTATAATGTTATCTTAGAACTAAGTTATGCTCTAAGGGCCAGAACTTGAGAATTCTTCAGCGAATACAAAATGTTGGTCTGAATCACAATAGACCAAAAAACAGACAAAATAAATTTTTATCT... | ATGGCTACTTAAATAGGTAAACTCAGCTAACACTAATCTCATATTTTCCTTTTCTCAAGCTTCTTTTTCTGGGTCTTCATTTGCTTTAGATGCTTGCCTTACAGTTTCTCTGTTACTAGAGATTTACTTACATCCTTCTGTGGTTTGGAGAGCATGTTAATTCCGCTAGCCTCGCATGTTAATTCCACTATTCTGAACTATAATGTTATCTTAGAACTAAGTTATGCTCTAAGGGCCAGAACTTGAGAATTCTTCAGCGAATACAAAATGTTGGTCTGAATCACAATAGACCAAAAAACAGACAAAATAAATTTTTATCT... | benign | 105,207 |
Located at chromosome 6 position 7576313, 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', 'Cardiovascular_phenotype'] | AACACTAATCTCATATTTTCCTTTTCTCAAGCTTCTTTTTCTGGGTCTTCATTTGCTTTAGATGCTTGCCTTACAGTTTCTCTGTTACTAGAGATTTACTTACATCCTTCTGTGGTTTGGAGAGCATGTTAATTCCGCTAGCCTCGCATGTTAATTCCACTATTCTGAACTATAATGTTATCTTAGAACTAAGTTATGCTCTAAGGGCCAGAACTTGAGAATTCTTCAGCGAATACAAAATGTTGGTCTGAATCACAATAGACCAAAAAACAGACAAAATAAATTTTTATCTGCTTTGACGTTGTTCCCTTTCATTACTA... | AACACTAATCTCATATTTTCCTTTTCTCAAGCTTCTTTTTCTGGGTCTTCATTTGCTTTAGATGCTTGCCTTACAGTTTCTCTGTTACTAGAGATTTACTTACATCCTTCTGTGGTTTGGAGAGCATGTTAATTCCGCTAGCCTCGCATGTTAATTCCACTATTCTGAACTATAATGTTATCTTAGAACTAAGTTATGCTCTAAGGGCCAGAACTTGAGAATTCTTCAGCGAATACAAAATGTTGGTCTGAATCACAATAGACCAAAAAACAGACAAAATAAATTTTTATCTGCTTTGACGTTGTTCCCTTTCATTACTA... | pathogenic | 105,212 |
Is the genetic change at chromosome 6, position 7576366, within 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', 'Cardiovascular_phenotype'] | TGCTTTAGATGCTTGCCTTACAGTTTCTCTGTTACTAGAGATTTACTTACATCCTTCTGTGGTTTGGAGAGCATGTTAATTCCGCTAGCCTCGCATGTTAATTCCACTATTCTGAACTATAATGTTATCTTAGAACTAAGTTATGCTCTAAGGGCCAGAACTTGAGAATTCTTCAGCGAATACAAAATGTTGGTCTGAATCACAATAGACCAAAAAACAGACAAAATAAATTTTTATCTGCTTTGACGTTGTTCCCTTTCATTACTAGCTGTGAGAGGCAAATCTTCACAGACTAATTATGTCACTGGCAATTTTATGTG... | TGCTTTAGATGCTTGCCTTACAGTTTCTCTGTTACTAGAGATTTACTTACATCCTTCTGTGGTTTGGAGAGCATGTTAATTCCGCTAGCCTCGCATGTTAATTCCACTATTCTGAACTATAATGTTATCTTAGAACTAAGTTATGCTCTAAGGGCCAGAACTTGAGAATTCTTCAGCGAATACAAAATGTTGGTCTGAATCACAATAGACCAAAAAACAGACAAAATAAATTTTTATCTGCTTTGACGTTGTTCCCTTTCATTACTAGCTGTGAGAGGCAAATCTTCACAGACTAATTATGTCACTGGCAATTTTATGTG... | pathogenic | 105,215 |
Regarding the variant at chromosome 6 and position 7577006, 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', 'Cardiovascular_phenotype'] | AGACTGTGTTAGCAGGAACTATATAAGAAAGTAATTCGTGATGGGATTAGTTTGGGGAATGCTGAGTTAAACTGGTTTCTTTACTGTGGGACTTCTTAGAAACTTTAATATGTTCATATTATTATTATAACAGGATAGCACAAAGAACAAGATTATTGGAACAAATACTGGGAAATGCAATTCAGTAAATATATTTCCCTGGATTGACTGTTAACACTTTAAATTATGAATATTCTAAAGTGTTTTATAAACTTTGCCGCCCAATTTGGTGACTTGTAGTGTAGCATACAATGGGAGAAGGGATTAATTTGCAATCTTTT... | AGACTGTGTTAGCAGGAACTATATAAGAAAGTAATTCGTGATGGGATTAGTTTGGGGAATGCTGAGTTAAACTGGTTTCTTTACTGTGGGACTTCTTAGAAACTTTAATATGTTCATATTATTATTATAACAGGATAGCACAAAGAACAAGATTATTGGAACAAATACTGGGAAATGCAATTCAGTAAATATATTTCCCTGGATTGACTGTTAACACTTTAAATTATGAATATTCTAAAGTGTTTTATAAACTTTGCCGCCCAATTTGGTGACTTGTAGTGTAGCATACAATGGGAGAAGGGATTAATTTGCAATCTTTT... | pathogenic | 105,228 |
Variant on chromosome 6, at position 7577007, affecting DSP (desmoplakin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis', 'Primary_dilated_cardiomyopathy'] | GACTGTGTTAGCAGGAACTATATAAGAAAGTAATTCGTGATGGGATTAGTTTGGGGAATGCTGAGTTAAACTGGTTTCTTTACTGTGGGACTTCTTAGAAACTTTAATATGTTCATATTATTATTATAACAGGATAGCACAAAGAACAAGATTATTGGAACAAATACTGGGAAATGCAATTCAGTAAATATATTTCCCTGGATTGACTGTTAACACTTTAAATTATGAATATTCTAAAGTGTTTTATAAACTTTGCCGCCCAATTTGGTGACTTGTAGTGTAGCATACAATGGGAGAAGGGATTAATTTGCAATCTTTTT... | GACTGTGTTAGCAGGAACTATATAAGAAAGTAATTCGTGATGGGATTAGTTTGGGGAATGCTGAGTTAAACTGGTTTCTTTACTGTGGGACTTCTTAGAAACTTTAATATGTTCATATTATTATTATAACAGGATAGCACAAAGAACAAGATTATTGGAACAAATACTGGGAAATGCAATTCAGTAAATATATTTCCCTGGATTGACTGTTAACACTTTAAATTATGAATATTCTAAAGTGTTTTATAAACTTTGCCGCCCAATTTGGTGACTTGTAGTGTAGCATACAATGGGAGAAGGGATTAATTTGCAATCTTTTT... | pathogenic | 105,229 |
The mutation impacting DSP (desmoplakin) on chromosome 6 at position 7577029: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | TAAGAAAGTAATTCGTGATGGGATTAGTTTGGGGAATGCTGAGTTAAACTGGTTTCTTTACTGTGGGACTTCTTAGAAACTTTAATATGTTCATATTATTATTATAACAGGATAGCACAAAGAACAAGATTATTGGAACAAATACTGGGAAATGCAATTCAGTAAATATATTTCCCTGGATTGACTGTTAACACTTTAAATTATGAATATTCTAAAGTGTTTTATAAACTTTGCCGCCCAATTTGGTGACTTGTAGTGTAGCATACAATGGGAGAAGGGATTAATTTGCAATCTTTTTTTTTTTCATCTTGCAGAAAATA... | TAAGAAAGTAATTCGTGATGGGATTAGTTTGGGGAATGCTGAGTTAAACTGGTTTCTTTACTGTGGGACTTCTTAGAAACTTTAATATGTTCATATTATTATTATAACAGGATAGCACAAAGAACAAGATTATTGGAACAAATACTGGGAAATGCAATTCAGTAAATATATTTCCCTGGATTGACTGTTAACACTTTAAATTATGAATATTCTAAAGTGTTTTATAAACTTTGCCGCCCAATTTGGTGACTTGTAGTGTAGCATACAATGGGAGAAGGGATTAATTTGCAATCTTTTTTTTTTTCATCTTGCAGAAAATA... | pathogenic | 105,231 |
The genetic variant at chromosome 6, position 7577880, 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', 'Cardiomyopathy', 'Cardiovascular_phenotype'] | AAATCTTAGACCAAAAAAAATGCCTTTCTGCAAATAAGAGTTTAAAAAATCTCTGGAATATGAATCTGCCTATTCTGGAAATTTTATATGACTGGAATCATACAATATGTAGTCCATTGTGACTGGCTTCTTTCACTTAGTATCGTGCTTTCAGAGTTCATCTGTGTTGTATCATGTTTCAGTACATCATTTTCTATTTTTTTCATGTGTTTTTATGATTGAATAATATTCCATTGTTTGGCAGTGCCACATTTTGTTGATCTTTTCATCAGTTGATACCTGAGTTGTTTCCAGTTTTTGGCTGTGATAAAAAGTGCTGC... | AAATCTTAGACCAAAAAAAATGCCTTTCTGCAAATAAGAGTTTAAAAAATCTCTGGAATATGAATCTGCCTATTCTGGAAATTTTATATGACTGGAATCATACAATATGTAGTCCATTGTGACTGGCTTCTTTCACTTAGTATCGTGCTTTCAGAGTTCATCTGTGTTGTATCATGTTTCAGTACATCATTTTCTATTTTTTTCATGTGTTTTTATGATTGAATAATATTCCATTGTTTGGCAGTGCCACATTTTGTTGATCTTTTCATCAGTTGATACCTGAGTTGTTTCCAGTTTTTGGCTGTGATAAAAAGTGCTGC... | pathogenic | 105,236 |
Clinical classification of chromosome 6, position 7579316, gene DSP (desmoplakin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | GGTGCTGCATTCTCCATTTAGCATACAAAGATGTACTGCTTGGTTTAATAATGGTGTTTGTTTGTTTGTTTGTTTGTTTGGAGAGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTATATTTTTAGTAGAGACAGGGTTTCTCCGTGTTGGTCAGGCTGGTTTTGAACTCCCGATCTCAGGGGATCTGCCCGGCTCGGCCTCCC... | GGTGCTGCATTCTCCATTTAGCATACAAAGATGTACTGCTTGGTTTAATAATGGTGTTTGTTTGTTTGTTTGTTTGTTTGGAGAGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTATATTTTTAGTAGAGACAGGGTTTCTCCGTGTTGGTCAGGCTGGTTTTGAACTCCCGATCTCAGGGGATCTGCCCGGCTCGGCCTCCC... | pathogenic | 105,250 |
Chromosome 6, position 7579346, gene DSP (desmoplakin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | ATGTACTGCTTGGTTTAATAATGGTGTTTGTTTGTTTGTTTGTTTGTTTGGAGAGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTATATTTTTAGTAGAGACAGGGTTTCTCCGTGTTGGTCAGGCTGGTTTTGAACTCCCGATCTCAGGGGATCTGCCCGGCTCGGCCTCCCAAAGTGCCAGGATTATGGGTGTGAGCCACC... | ATGTACTGCTTGGTTTAATAATGGTGTTTGTTTGTTTGTTTGTTTGTTTGGAGAGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTATATTTTTAGTAGAGACAGGGTTTCTCCGTGTTGGTCAGGCTGGTTTTGAACTCCCGATCTCAGGGGATCTGCCCGGCTCGGCCTCCCAAAGTGCCAGGATTATGGGTGTGAGCCACC... | pathogenic | 105,254 |
Mutation found at chromosome 6 position 7579527, 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'] | CCACCATGCCCGGCTAATTTTATATTTTTAGTAGAGACAGGGTTTCTCCGTGTTGGTCAGGCTGGTTTTGAACTCCCGATCTCAGGGGATCTGCCCGGCTCGGCCTCCCAAAGTGCCAGGATTATGGGTGTGAGCCACCACGCTAATGTAGTATTAGTTGCTTGGCCACTAGTGGCGCAAAGTCTTTGGAGTGGGCAATTAGACGTGCAGCCCAATGATTTAAAACTGTGGAACTGTAGCTGTTAGTGATGCTTTTTAAGTCTATGAAGGACACTTTTCTTAAACTTCATTATGCTGCAGGATTATGAGCTCCAGCTGGC... | CCACCATGCCCGGCTAATTTTATATTTTTAGTAGAGACAGGGTTTCTCCGTGTTGGTCAGGCTGGTTTTGAACTCCCGATCTCAGGGGATCTGCCCGGCTCGGCCTCCCAAAGTGCCAGGATTATGGGTGTGAGCCACCACGCTAATGTAGTATTAGTTGCTTGGCCACTAGTGGCGCAAAGTCTTTGGAGTGGGCAATTAGACGTGCAGCCCAATGATTTAAAACTGTGGAACTGTAGCTGTTAGTGATGCTTTTTAAGTCTATGAAGGACACTTTTCTTAAACTTCATTATGCTGCAGGATTATGAGCTCCAGCTGGC... | pathogenic | 105,275 |
Variant in DSP (desmoplakin), chromosome 6, position 7579605—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'] | ATCTCAGGGGATCTGCCCGGCTCGGCCTCCCAAAGTGCCAGGATTATGGGTGTGAGCCACCACGCTAATGTAGTATTAGTTGCTTGGCCACTAGTGGCGCAAAGTCTTTGGAGTGGGCAATTAGACGTGCAGCCCAATGATTTAAAACTGTGGAACTGTAGCTGTTAGTGATGCTTTTTAAGTCTATGAAGGACACTTTTCTTAAACTTCATTATGCTGCAGGATTATGAGCTCCAGCTGGCCTCATACACCTCAGGACTGGAAACTCTGCTGAACATACCTATCAAGAGGACCATGATTCAGTCCCCTTCTGGGGTGAT... | ATCTCAGGGGATCTGCCCGGCTCGGCCTCCCAAAGTGCCAGGATTATGGGTGTGAGCCACCACGCTAATGTAGTATTAGTTGCTTGGCCACTAGTGGCGCAAAGTCTTTGGAGTGGGCAATTAGACGTGCAGCCCAATGATTTAAAACTGTGGAACTGTAGCTGTTAGTGATGCTTTTTAAGTCTATGAAGGACACTTTTCTTAAACTTCATTATGCTGCAGGATTATGAGCTCCAGCTGGCCTCATACACCTCAGGACTGGAAACTCTGCTGAACATACCTATCAAGAGGACCATGATTCAGTCCCCTTCTGGGGTGAT... | pathogenic | 105,282 |
Variant at chromosome position 7579663, chromosome 6, gene DSP (desmoplakin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype', 'Primary_dilated_cardiomyopathy'] | ACCACGCTAATGTAGTATTAGTTGCTTGGCCACTAGTGGCGCAAAGTCTTTGGAGTGGGCAATTAGACGTGCAGCCCAATGATTTAAAACTGTGGAACTGTAGCTGTTAGTGATGCTTTTTAAGTCTATGAAGGACACTTTTCTTAAACTTCATTATGCTGCAGGATTATGAGCTCCAGCTGGCCTCATACACCTCAGGACTGGAAACTCTGCTGAACATACCTATCAAGAGGACCATGATTCAGTCCCCTTCTGGGGTGATTCTGCAAGAGGTATATATGTCATCACATATCTCTTAAAACCTGCCCCTCCTTCTGCTT... | ACCACGCTAATGTAGTATTAGTTGCTTGGCCACTAGTGGCGCAAAGTCTTTGGAGTGGGCAATTAGACGTGCAGCCCAATGATTTAAAACTGTGGAACTGTAGCTGTTAGTGATGCTTTTTAAGTCTATGAAGGACACTTTTCTTAAACTTCATTATGCTGCAGGATTATGAGCTCCAGCTGGCCTCATACACCTCAGGACTGGAAACTCTGCTGAACATACCTATCAAGAGGACCATGATTCAGTCCCCTTCTGGGGTGATTCTGCAAGAGGTATATATGTCATCACATATCTCTTAAAACCTGCCCCTCCTTCTGCTT... | pathogenic | 105,288 |
Mutation found at chromosome 6 position 7579704, 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'] | CAAAGTCTTTGGAGTGGGCAATTAGACGTGCAGCCCAATGATTTAAAACTGTGGAACTGTAGCTGTTAGTGATGCTTTTTAAGTCTATGAAGGACACTTTTCTTAAACTTCATTATGCTGCAGGATTATGAGCTCCAGCTGGCCTCATACACCTCAGGACTGGAAACTCTGCTGAACATACCTATCAAGAGGACCATGATTCAGTCCCCTTCTGGGGTGATTCTGCAAGAGGTATATATGTCATCACATATCTCTTAAAACCTGCCCCTCCTTCTGCTTCTTCCCTTTTCCCTGTCTCCTGCCTCTTCCCTTTTCCCTGT... | CAAAGTCTTTGGAGTGGGCAATTAGACGTGCAGCCCAATGATTTAAAACTGTGGAACTGTAGCTGTTAGTGATGCTTTTTAAGTCTATGAAGGACACTTTTCTTAAACTTCATTATGCTGCAGGATTATGAGCTCCAGCTGGCCTCATACACCTCAGGACTGGAAACTCTGCTGAACATACCTATCAAGAGGACCATGATTCAGTCCCCTTCTGGGGTGATTCTGCAAGAGGTATATATGTCATCACATATCTCTTAAAACCTGCCCCTCCTTCTGCTTCTTCCCTTTTCCCTGTCTCCTGCCTCTTCCCTTTTCCCTGT... | pathogenic | 105,291 |
Located at chromosome 6 position 7579713, 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_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | TGGAGTGGGCAATTAGACGTGCAGCCCAATGATTTAAAACTGTGGAACTGTAGCTGTTAGTGATGCTTTTTAAGTCTATGAAGGACACTTTTCTTAAACTTCATTATGCTGCAGGATTATGAGCTCCAGCTGGCCTCATACACCTCAGGACTGGAAACTCTGCTGAACATACCTATCAAGAGGACCATGATTCAGTCCCCTTCTGGGGTGATTCTGCAAGAGGTATATATGTCATCACATATCTCTTAAAACCTGCCCCTCCTTCTGCTTCTTCCCTTTTCCCTGTCTCCTGCCTCTTCCCTTTTCCCTGTCTCCTGCCT... | TGGAGTGGGCAATTAGACGTGCAGCCCAATGATTTAAAACTGTGGAACTGTAGCTGTTAGTGATGCTTTTTAAGTCTATGAAGGACACTTTTCTTAAACTTCATTATGCTGCAGGATTATGAGCTCCAGCTGGCCTCATACACCTCAGGACTGGAAACTCTGCTGAACATACCTATCAAGAGGACCATGATTCAGTCCCCTTCTGGGGTGATTCTGCAAGAGGTATATATGTCATCACATATCTCTTAAAACCTGCCCCTCCTTCTGCTTCTTCCCTTTTCCCTGTCTCCTGCCTCTTCCCTTTTCCCTGTCTCCTGCCT... | pathogenic | 105,292 |
Variant in gene DSP (desmoplakin), located at chromosome 6 position 7579825: 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'] | AGGATTATGAGCTCCAGCTGGCCTCATACACCTCAGGACTGGAAACTCTGCTGAACATACCTATCAAGAGGACCATGATTCAGTCCCCTTCTGGGGTGATTCTGCAAGAGGTATATATGTCATCACATATCTCTTAAAACCTGCCCCTCCTTCTGCTTCTTCCCTTTTCCCTGTCTCCTGCCTCTTCCCTTTTCCCTGTCTCCTGCCTGTCTTCCTTACCATTGCTGATTTCATCCCATTACAGGGTACCACTTTAAGAGGTTTAATAGCAGGTTATGTGCCCTCCAGTGTGAGTCATTGATGTATGATACATTTTCAGA... | AGGATTATGAGCTCCAGCTGGCCTCATACACCTCAGGACTGGAAACTCTGCTGAACATACCTATCAAGAGGACCATGATTCAGTCCCCTTCTGGGGTGATTCTGCAAGAGGTATATATGTCATCACATATCTCTTAAAACCTGCCCCTCCTTCTGCTTCTTCCCTTTTCCCTGTCTCCTGCCTCTTCCCTTTTCCCTGTCTCCTGCCTGTCTTCCTTACCATTGCTGATTTCATCCCATTACAGGGTACCACTTTAAGAGGTTTAATAGCAGGTTATGTGCCCTCCAGTGTGAGTCATTGATGTATGATACATTTTCAGA... | pathogenic | 105,301 |
Is chromosome 6, position 7579920, 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'] | GTGATTCTGCAAGAGGTATATATGTCATCACATATCTCTTAAAACCTGCCCCTCCTTCTGCTTCTTCCCTTTTCCCTGTCTCCTGCCTCTTCCCTTTTCCCTGTCTCCTGCCTGTCTTCCTTACCATTGCTGATTTCATCCCATTACAGGGTACCACTTTAAGAGGTTTAATAGCAGGTTATGTGCCCTCCAGTGTGAGTCATTGATGTATGATACATTTTCAGAAATGATCAGGAATGTGTTATTTAGAGTCTTTGTAGAAATTGGGCTTAAATTTCTGGGTTTGATGAGAGAGACTTCTAAAAAGTGGAAAATACAGA... | GTGATTCTGCAAGAGGTATATATGTCATCACATATCTCTTAAAACCTGCCCCTCCTTCTGCTTCTTCCCTTTTCCCTGTCTCCTGCCTCTTCCCTTTTCCCTGTCTCCTGCCTGTCTTCCTTACCATTGCTGATTTCATCCCATTACAGGGTACCACTTTAAGAGGTTTAATAGCAGGTTATGTGCCCTCCAGTGTGAGTCATTGATGTATGATACATTTTCAGAAATGATCAGGAATGTGTTATTTAGAGTCTTTGTAGAAATTGGGCTTAAATTTCTGGGTTTGATGAGAGAGACTTCTAAAAAGTGGAAAATACAGA... | pathogenic | 105,308 |
Evaluate the clinical significance of the mutation at chromosome 6, position 7579922 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_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy', 'Cardiovascular_phenotype'] | GATTCTGCAAGAGGTATATATGTCATCACATATCTCTTAAAACCTGCCCCTCCTTCTGCTTCTTCCCTTTTCCCTGTCTCCTGCCTCTTCCCTTTTCCCTGTCTCCTGCCTGTCTTCCTTACCATTGCTGATTTCATCCCATTACAGGGTACCACTTTAAGAGGTTTAATAGCAGGTTATGTGCCCTCCAGTGTGAGTCATTGATGTATGATACATTTTCAGAAATGATCAGGAATGTGTTATTTAGAGTCTTTGTAGAAATTGGGCTTAAATTTCTGGGTTTGATGAGAGAGACTTCTAAAAAGTGGAAAATACAGAAA... | GATTCTGCAAGAGGTATATATGTCATCACATATCTCTTAAAACCTGCCCCTCCTTCTGCTTCTTCCCTTTTCCCTGTCTCCTGCCTCTTCCCTTTTCCCTGTCTCCTGCCTGTCTTCCTTACCATTGCTGATTTCATCCCATTACAGGGTACCACTTTAAGAGGTTTAATAGCAGGTTATGTGCCCTCCAGTGTGAGTCATTGATGTATGATACATTTTCAGAAATGATCAGGAATGTGTTATTTAGAGTCTTTGTAGAAATTGGGCTTAAATTTCTGGGTTTGATGAGAGAGACTTCTAAAAAGTGGAAAATACAGAAA... | pathogenic | 105,309 |
Does the chromosome 6 mutation at position 7580039 within gene DSP (desmoplakin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | CTTACCATTGCTGATTTCATCCCATTACAGGGTACCACTTTAAGAGGTTTAATAGCAGGTTATGTGCCCTCCAGTGTGAGTCATTGATGTATGATACATTTTCAGAAATGATCAGGAATGTGTTATTTAGAGTCTTTGTAGAAATTGGGCTTAAATTTCTGGGTTTGATGAGAGAGACTTCTAAAAAGTGGAAAATACAGAAATTTCTAAAAGACAGCCTCTTCTCAAAGATGTCAGAGACTATCGTACCTGTCAGATGGTTTAGGGGAAACAGCCTGGAGAGATGAGAATGGGATACATTTTTGGCCCTTTGTTTTGCT... | CTTACCATTGCTGATTTCATCCCATTACAGGGTACCACTTTAAGAGGTTTAATAGCAGGTTATGTGCCCTCCAGTGTGAGTCATTGATGTATGATACATTTTCAGAAATGATCAGGAATGTGTTATTTAGAGTCTTTGTAGAAATTGGGCTTAAATTTCTGGGTTTGATGAGAGAGACTTCTAAAAAGTGGAAAATACAGAAATTTCTAAAAGACAGCCTCTTCTCAAAGATGTCAGAGACTATCGTACCTGTCAGATGGTTTAGGGGAAACAGCCTGGAGAGATGAGAATGGGATACATTTTTGGCCCTTTGTTTTGCT... | pathogenic | 105,320 |
For chromosome 6, position 7580092, gene DSP (desmoplakin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | AGCAGGTTATGTGCCCTCCAGTGTGAGTCATTGATGTATGATACATTTTCAGAAATGATCAGGAATGTGTTATTTAGAGTCTTTGTAGAAATTGGGCTTAAATTTCTGGGTTTGATGAGAGAGACTTCTAAAAAGTGGAAAATACAGAAATTTCTAAAAGACAGCCTCTTCTCAAAGATGTCAGAGACTATCGTACCTGTCAGATGGTTTAGGGGAAACAGCCTGGAGAGATGAGAATGGGATACATTTTTGGCCCTTTGTTTTGCTGTACTTTCTTTTGCTGATTTTGGAATGAACACACTAAAGAAGAGAATTCACTC... | AGCAGGTTATGTGCCCTCCAGTGTGAGTCATTGATGTATGATACATTTTCAGAAATGATCAGGAATGTGTTATTTAGAGTCTTTGTAGAAATTGGGCTTAAATTTCTGGGTTTGATGAGAGAGACTTCTAAAAAGTGGAAAATACAGAAATTTCTAAAAGACAGCCTCTTCTCAAAGATGTCAGAGACTATCGTACCTGTCAGATGGTTTAGGGGAAACAGCCTGGAGAGATGAGAATGGGATACATTTTTGGCCCTTTGTTTTGCTGTACTTTCTTTTGCTGATTTTGGAATGAACACACTAAAGAAGAGAATTCACTC... | pathogenic | 105,325 |
Classify the chromosome 6 variant at position 7580097 affecting gene DSP (desmoplakin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | GTTATGTGCCCTCCAGTGTGAGTCATTGATGTATGATACATTTTCAGAAATGATCAGGAATGTGTTATTTAGAGTCTTTGTAGAAATTGGGCTTAAATTTCTGGGTTTGATGAGAGAGACTTCTAAAAAGTGGAAAATACAGAAATTTCTAAAAGACAGCCTCTTCTCAAAGATGTCAGAGACTATCGTACCTGTCAGATGGTTTAGGGGAAACAGCCTGGAGAGATGAGAATGGGATACATTTTTGGCCCTTTGTTTTGCTGTACTTTCTTTTGCTGATTTTGGAATGAACACACTAAAGAAGAGAATTCACTCTTTAT... | GTTATGTGCCCTCCAGTGTGAGTCATTGATGTATGATACATTTTCAGAAATGATCAGGAATGTGTTATTTAGAGTCTTTGTAGAAATTGGGCTTAAATTTCTGGGTTTGATGAGAGAGACTTCTAAAAAGTGGAAAATACAGAAATTTCTAAAAGACAGCCTCTTCTCAAAGATGTCAGAGACTATCGTACCTGTCAGATGGTTTAGGGGAAACAGCCTGGAGAGATGAGAATGGGATACATTTTTGGCCCTTTGTTTTGCTGTACTTTCTTTTGCTGATTTTGGAATGAACACACTAAAGAAGAGAATTCACTCTTTAT... | pathogenic | 105,327 |
Considering the genetic mutation at chromosome 6, position 7580120, impacting DSP (desmoplakin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | CATTGATGTATGATACATTTTCAGAAATGATCAGGAATGTGTTATTTAGAGTCTTTGTAGAAATTGGGCTTAAATTTCTGGGTTTGATGAGAGAGACTTCTAAAAAGTGGAAAATACAGAAATTTCTAAAAGACAGCCTCTTCTCAAAGATGTCAGAGACTATCGTACCTGTCAGATGGTTTAGGGGAAACAGCCTGGAGAGATGAGAATGGGATACATTTTTGGCCCTTTGTTTTGCTGTACTTTCTTTTGCTGATTTTGGAATGAACACACTAAAGAAGAGAATTCACTCTTTATAATTTCACTATTTTAGAAAACAA... | CATTGATGTATGATACATTTTCAGAAATGATCAGGAATGTGTTATTTAGAGTCTTTGTAGAAATTGGGCTTAAATTTCTGGGTTTGATGAGAGAGACTTCTAAAAAGTGGAAAATACAGAAATTTCTAAAAGACAGCCTCTTCTCAAAGATGTCAGAGACTATCGTACCTGTCAGATGGTTTAGGGGAAACAGCCTGGAGAGATGAGAATGGGATACATTTTTGGCCCTTTGTTTTGCTGTACTTTCTTTTGCTGATTTTGGAATGAACACACTAAAGAAGAGAATTCACTCTTTATAATTTCACTATTTTAGAAAACAA... | pathogenic | 105,331 |
A genetic variant at chromosome 6, position 7580197, 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', 'Cardiovascular_phenotype'] | CTGGGTTTGATGAGAGAGACTTCTAAAAAGTGGAAAATACAGAAATTTCTAAAAGACAGCCTCTTCTCAAAGATGTCAGAGACTATCGTACCTGTCAGATGGTTTAGGGGAAACAGCCTGGAGAGATGAGAATGGGATACATTTTTGGCCCTTTGTTTTGCTGTACTTTCTTTTGCTGATTTTGGAATGAACACACTAAAGAAGAGAATTCACTCTTTATAATTTCACTATTTTAGAAAACAAAATCGGTCAAATTACATAGGACTTTTTTTTTAATGCAATATCTTTTTCTTTCTTTCCTTCCTTTTCTCCAAGGCTGC... | CTGGGTTTGATGAGAGAGACTTCTAAAAAGTGGAAAATACAGAAATTTCTAAAAGACAGCCTCTTCTCAAAGATGTCAGAGACTATCGTACCTGTCAGATGGTTTAGGGGAAACAGCCTGGAGAGATGAGAATGGGATACATTTTTGGCCCTTTGTTTTGCTGTACTTTCTTTTGCTGATTTTGGAATGAACACACTAAAGAAGAGAATTCACTCTTTATAATTTCACTATTTTAGAAAACAAAATCGGTCAAATTACATAGGACTTTTTTTTTAATGCAATATCTTTTTCTTTCTTTCCTTCCTTTTCTCCAAGGCTGC... | pathogenic | 105,340 |
Variant in gene DSP (desmoplakin), located at chromosome 6 position 7580224: 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', 'Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis', 'Cardiovascular_phenotype', 'Keratosis_palmoplantaris_striata_2', 'Lethal_acantholytic_epidermolysi... | AAGTGGAAAATACAGAAATTTCTAAAAGACAGCCTCTTCTCAAAGATGTCAGAGACTATCGTACCTGTCAGATGGTTTAGGGGAAACAGCCTGGAGAGATGAGAATGGGATACATTTTTGGCCCTTTGTTTTGCTGTACTTTCTTTTGCTGATTTTGGAATGAACACACTAAAGAAGAGAATTCACTCTTTATAATTTCACTATTTTAGAAAACAAAATCGGTCAAATTACATAGGACTTTTTTTTTAATGCAATATCTTTTTCTTTCTTTCCTTCCTTTTCTCCAAGGCTGCAGATGTTCATGCTCGGTACATTGAACT... | AAGTGGAAAATACAGAAATTTCTAAAAGACAGCCTCTTCTCAAAGATGTCAGAGACTATCGTACCTGTCAGATGGTTTAGGGGAAACAGCCTGGAGAGATGAGAATGGGATACATTTTTGGCCCTTTGTTTTGCTGTACTTTCTTTTGCTGATTTTGGAATGAACACACTAAAGAAGAGAATTCACTCTTTATAATTTCACTATTTTAGAAAACAAAATCGGTCAAATTACATAGGACTTTTTTTTTAATGCAATATCTTTTTCTTTCTTTCCTTCCTTTTCTCCAAGGCTGCAGATGTTCATGCTCGGTACATTGAACT... | pathogenic | 105,341 |
Variant in DSP (desmoplakin), chromosome 6, position 7580338—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'] | TTTTTGGCCCTTTGTTTTGCTGTACTTTCTTTTGCTGATTTTGGAATGAACACACTAAAGAAGAGAATTCACTCTTTATAATTTCACTATTTTAGAAAACAAAATCGGTCAAATTACATAGGACTTTTTTTTTAATGCAATATCTTTTTCTTTCTTTCCTTCCTTTTCTCCAAGGCTGCAGATGTTCATGCTCGGTACATTGAACTACTTACAAGATCTGGAGACTATTACAGGTTCTTAAGTGAGATGCTGAAGAGTTTGGAAGATCTGAAGGTAATTTATACTGTCTTTTCTTGTAGCGTCAAAAAAGAAAATAGAAT... | TTTTTGGCCCTTTGTTTTGCTGTACTTTCTTTTGCTGATTTTGGAATGAACACACTAAAGAAGAGAATTCACTCTTTATAATTTCACTATTTTAGAAAACAAAATCGGTCAAATTACATAGGACTTTTTTTTTAATGCAATATCTTTTTCTTTCTTTCCTTCCTTTTCTCCAAGGCTGCAGATGTTCATGCTCGGTACATTGAACTACTTACAAGATCTGGAGACTATTACAGGTTCTTAAGTGAGATGCTGAAGAGTTTGGAAGATCTGAAGGTAATTTATACTGTCTTTTCTTGTAGCGTCAAAAAAGAAAATAGAAT... | pathogenic | 105,349 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 7580416, gene DSP (desmoplakin): what disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma'] | TAATTTCACTATTTTAGAAAACAAAATCGGTCAAATTACATAGGACTTTTTTTTTAATGCAATATCTTTTTCTTTCTTTCCTTCCTTTTCTCCAAGGCTGCAGATGTTCATGCTCGGTACATTGAACTACTTACAAGATCTGGAGACTATTACAGGTTCTTAAGTGAGATGCTGAAGAGTTTGGAAGATCTGAAGGTAATTTATACTGTCTTTTCTTGTAGCGTCAAAAAAGAAAATAGAATAGAACCTTATTATTACTTCCACATTATAACATGGATTTGGACACATCCTGGTGAAACTGTATTTCCTCTAAAGGTTTA... | TAATTTCACTATTTTAGAAAACAAAATCGGTCAAATTACATAGGACTTTTTTTTTAATGCAATATCTTTTTCTTTCTTTCCTTCCTTTTCTCCAAGGCTGCAGATGTTCATGCTCGGTACATTGAACTACTTACAAGATCTGGAGACTATTACAGGTTCTTAAGTGAGATGCTGAAGAGTTTGGAAGATCTGAAGGTAATTTATACTGTCTTTTCTTGTAGCGTCAAAAAAGAAAATAGAATAGAACCTTATTATTACTTCCACATTATAACATGGATTTGGACACATCCTGGTGAAACTGTATTTCCTCTAAAGGTTTA... | pathogenic | 105,357 |
Gene DSP (desmoplakin) variant at chromosome position 7580494 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_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy', 'Cardiovascular_phenotype', 'Primary_dilated_cardiomyopathy'] | TCCTTCCTTTTCTCCAAGGCTGCAGATGTTCATGCTCGGTACATTGAACTACTTACAAGATCTGGAGACTATTACAGGTTCTTAAGTGAGATGCTGAAGAGTTTGGAAGATCTGAAGGTAATTTATACTGTCTTTTCTTGTAGCGTCAAAAAAGAAAATAGAATAGAACCTTATTATTACTTCCACATTATAACATGGATTTGGACACATCCTGGTGAAACTGTATTTCCTCTAAAGGTTTAGTGTAATACTGCTTGTTTGTAAGTCTGGGGTTACTTCCATGCTCCAATACGCTGCTTTAAATGAACTTAAGTAATAGT... | TCCTTCCTTTTCTCCAAGGCTGCAGATGTTCATGCTCGGTACATTGAACTACTTACAAGATCTGGAGACTATTACAGGTTCTTAAGTGAGATGCTGAAGAGTTTGGAAGATCTGAAGGTAATTTATACTGTCTTTTCTTGTAGCGTCAAAAAAGAAAATAGAATAGAACCTTATTATTACTTCCACATTATAACATGGATTTGGACACATCCTGGTGAAACTGTATTTCCTCTAAAGGTTTAGTGTAATACTGCTTGTTTGTAAGTCTGGGGTTACTTCCATGCTCCAATACGCTGCTTTAAATGAACTTAAGTAATAGT... | pathogenic | 105,363 |
Gene mutation in DSP (desmoplakin) at chromosome 6, position 7580572—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | TTCTTAAGTGAGATGCTGAAGAGTTTGGAAGATCTGAAGGTAATTTATACTGTCTTTTCTTGTAGCGTCAAAAAAGAAAATAGAATAGAACCTTATTATTACTTCCACATTATAACATGGATTTGGACACATCCTGGTGAAACTGTATTTCCTCTAAAGGTTTAGTGTAATACTGCTTGTTTGTAAGTCTGGGGTTACTTCCATGCTCCAATACGCTGCTTTAAATGAACTTAAGTAATAGTCATAATATTGCAACAACTTTGCCAAACAAAAGTCACTTGATTTAATGTTTGGTTAAGGAATTTGCTTTATTTCTCTGT... | TTCTTAAGTGAGATGCTGAAGAGTTTGGAAGATCTGAAGGTAATTTATACTGTCTTTTCTTGTAGCGTCAAAAAAGAAAATAGAATAGAACCTTATTATTACTTCCACATTATAACATGGATTTGGACACATCCTGGTGAAACTGTATTTCCTCTAAAGGTTTAGTGTAATACTGCTTGTTTGTAAGTCTGGGGTTACTTCCATGCTCCAATACGCTGCTTTAAATGAACTTAAGTAATAGTCATAATATTGCAACAACTTTGCCAAACAAAAGTCACTTGATTTAATGTTTGGTTAAGGAATTTGCTTTATTTCTCTGT... | pathogenic | 105,373 |
Determine whether the variant at chromosome 6, position 7580585, in gene DSP (desmoplakin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Arrhythmogenic_right_ventricular_cardiomyopathy'] | TGCTGAAGAGTTTGGAAGATCTGAAGGTAATTTATACTGTCTTTTCTTGTAGCGTCAAAAAAGAAAATAGAATAGAACCTTATTATTACTTCCACATTATAACATGGATTTGGACACATCCTGGTGAAACTGTATTTCCTCTAAAGGTTTAGTGTAATACTGCTTGTTTGTAAGTCTGGGGTTACTTCCATGCTCCAATACGCTGCTTTAAATGAACTTAAGTAATAGTCATAATATTGCAACAACTTTGCCAAACAAAAGTCACTTGATTTAATGTTTGGTTAAGGAATTTGCTTTATTTCTCTGTGTTAAAGATAACA... | TGCTGAAGAGTTTGGAAGATCTGAAGGTAATTTATACTGTCTTTTCTTGTAGCGTCAAAAAAGAAAATAGAATAGAACCTTATTATTACTTCCACATTATAACATGGATTTGGACACATCCTGGTGAAACTGTATTTCCTCTAAAGGTTTAGTGTAATACTGCTTGTTTGTAAGTCTGGGGTTACTTCCATGCTCCAATACGCTGCTTTAAATGAACTTAAGTAATAGTCATAATATTGCAACAACTTTGCCAAACAAAAGTCACTTGATTTAATGTTTGGTTAAGGAATTTGCTTTATTTCTCTGTGTTAAAGATAACA... | pathogenic | 105,379 |
Gene DSP (desmoplakin) variant at chromosome 6, position 7580609—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | AGGTAATTTATACTGTCTTTTCTTGTAGCGTCAAAAAAGAAAATAGAATAGAACCTTATTATTACTTCCACATTATAACATGGATTTGGACACATCCTGGTGAAACTGTATTTCCTCTAAAGGTTTAGTGTAATACTGCTTGTTTGTAAGTCTGGGGTTACTTCCATGCTCCAATACGCTGCTTTAAATGAACTTAAGTAATAGTCATAATATTGCAACAACTTTGCCAAACAAAAGTCACTTGATTTAATGTTTGGTTAAGGAATTTGCTTTATTTCTCTGTGTTAAAGATAACATCTTGGACTAGGTATATTTGAATT... | AGGTAATTTATACTGTCTTTTCTTGTAGCGTCAAAAAAGAAAATAGAATAGAACCTTATTATTACTTCCACATTATAACATGGATTTGGACACATCCTGGTGAAACTGTATTTCCTCTAAAGGTTTAGTGTAATACTGCTTGTTTGTAAGTCTGGGGTTACTTCCATGCTCCAATACGCTGCTTTAAATGAACTTAAGTAATAGTCATAATATTGCAACAACTTTGCCAAACAAAAGTCACTTGATTTAATGTTTGGTTAAGGAATTTGCTTTATTTCTCTGTGTTAAAGATAACATCTTGGACTAGGTATATTTGAATT... | pathogenic | 105,382 |
A genetic variant at chromosome 6, position 7580707, 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', 'Cardiac_arrhythmia', 'Cardiovascular_phenotype'] | GGTGAAACTGTATTTCCTCTAAAGGTTTAGTGTAATACTGCTTGTTTGTAAGTCTGGGGTTACTTCCATGCTCCAATACGCTGCTTTAAATGAACTTAAGTAATAGTCATAATATTGCAACAACTTTGCCAAACAAAAGTCACTTGATTTAATGTTTGGTTAAGGAATTTGCTTTATTTCTCTGTGTTAAAGATAACATCTTGGACTAGGTATATTTGAATTTTTTATATTCAGTGATTGTTCCCTTTATTCCTCATTTATGATACTTAAATTGAGATTATATGTAAACTTATTTTAATGTAAACTTGAAATAAAGGGAA... | GGTGAAACTGTATTTCCTCTAAAGGTTTAGTGTAATACTGCTTGTTTGTAAGTCTGGGGTTACTTCCATGCTCCAATACGCTGCTTTAAATGAACTTAAGTAATAGTCATAATATTGCAACAACTTTGCCAAACAAAAGTCACTTGATTTAATGTTTGGTTAAGGAATTTGCTTTATTTCTCTGTGTTAAAGATAACATCTTGGACTAGGTATATTTGAATTTTTTATATTCAGTGATTGTTCCCTTTATTCCTCATTTATGATACTTAAATTGAGATTATATGTAAACTTATTTTAATGTAAACTTGAAATAAAGGGAA... | pathogenic | 105,395 |
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