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 |
|---|---|---|---|---|---|
The chromosome 22, position 29604033 genetic variant in gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Neurofibromatosis,_type_2'] | AGTATCTTCACCTGTGGAGTTGGGGGGGTGATGCTAATGTTAGCTAACATTTATGGGGTGATTATTGTTGTTAAAACTCAGTACACCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCCCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAACTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGAGAGCCGAGACC... | AGTATCTTCACCTGTGGAGTTGGGGGGGTGATGCTAATGTTAGCTAACATTTATGGGGTGATTATTGTTGTTAAAACTCAGTACACCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCCCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAACTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGAGAGCCGAGACC... | pathogenic | 325,256 |
Variant chromosome 22, position 29639200, gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor): benign or pathogenic? Disease(s)? | pathogenic; ['Neurofibromatosis,_type_2'] | GCCTTTCAGTTTATGAATAAAAACTTCATGAATAAAAATTACTGTTATCTTCATATACTTAAAAATAACCAATTTGTGTCTTTTAGAGAGTATTGGGGCTTGTGTTCTTTAGGGAATTTTTTAAAGTCTTTTTGAGGAACACCATAGTCTGACATGAAGTAATCATTAATATGATCTAAGGAATAGAGAGTGCCTGGTCCCCAGGGTGAAAGAATGTCCATTTTGTCCTCAGGATTCTCTGGGGCTTCTGACACATGGCCAAGAAAGCTGGGCTCCTGGCAATTTTAATGTGGCTTGGAAATGAATATTGCCTAAAGGAA... | GCCTTTCAGTTTATGAATAAAAACTTCATGAATAAAAATTACTGTTATCTTCATATACTTAAAAATAACCAATTTGTGTCTTTTAGAGAGTATTGGGGCTTGTGTTCTTTAGGGAATTTTTTAAAGTCTTTTTGAGGAACACCATAGTCTGACATGAAGTAATCATTAATATGATCTAAGGAATAGAGAGTGCCTGGTCCCCAGGGTGAAAGAATGTCCATTTTGTCCTCAGGATTCTCTGGGGCTTCTGACACATGGCCAAGAAAGCTGGGCTCCTGGCAATTTTAATGTGGCTTGGAAATGAATATTGCCTAAAGGAA... | pathogenic | 325,311 |
Benign or pathogenic: chromosome 22, position 29642268, gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor) variant? Disease(s) if pathogenic? | pathogenic; ['NF2-related_disorder', 'Neurofibromatosis,_type_2'] | GAGGACTTCAGAGCTCTAGTGACACTTGGTTTGTCCCCCATATGTGGTACTTCAGACATCGTGCTTCATGCTATGCTGTGTCTCTAATTGTCCTATTTCTTCCTTAATTCCTCATTAGATTGTAAGCCCCTTAAAGGCAAGCCTCATTAAGTACACAGTAGGCATTCCATAAGTAATTGTCCCACCGAATTGAAGAAATTAAGAAATTCACAATTACAGGTTGACCATCCAGAGGCACAGGGAGGGGAACTGGTCTGAGGATGAAAACCTTATCAGTTTCACTTATGTTCTTACTGCAGGTCAGAGTGGCTCCCCAGTTT... | GAGGACTTCAGAGCTCTAGTGACACTTGGTTTGTCCCCCATATGTGGTACTTCAGACATCGTGCTTCATGCTATGCTGTGTCTCTAATTGTCCTATTTCTTCCTTAATTCCTCATTAGATTGTAAGCCCCTTAAAGGCAAGCCTCATTAAGTACACAGTAGGCATTCCATAAGTAATTGTCCCACCGAATTGAAGAAATTAAGAAATTCACAATTACAGGTTGACCATCCAGAGGCACAGGGAGGGGAACTGGTCTGAGGATGAAAACCTTATCAGTTTCACTTATGTTCTTACTGCAGGTCAGAGTGGCTCCCCAGTTT... | pathogenic | 325,324 |
Gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor) variant at chromosome position 29655632 on chromosome 22: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neurofibromatosis,_type_2'] | ATGGGAATGAGACATGATTTAAAGTTAATGATGAATATCTTCTTTCACTCCTGTGTCTGTAGTTTTAGGCCGCTTCATTTGGAGAACACACCAGAAGTCTTAACTTGAGGCTCTTTGAGAATGAGAGAACATAACGAAATAATGAGATTTGGTGGTATATAGAAACAGCAGCCTTGTGCCTGACCTTTGTTTTTTCACTGTTGGTGGCTAAAAGAATAAATGTTTATAGATTATACTGAAGTACTGAGCTTTGTTGTTTTTGGTAAAATGAAGAGCCACTGTACGCTGATTGATAAGAGATAGGCTTTGATTTTATATTC... | ATGGGAATGAGACATGATTTAAAGTTAATGATGAATATCTTCTTTCACTCCTGTGTCTGTAGTTTTAGGCCGCTTCATTTGGAGAACACACCAGAAGTCTTAACTTGAGGCTCTTTGAGAATGAGAGAACATAACGAAATAATGAGATTTGGTGGTATATAGAAACAGCAGCCTTGTGCCTGACCTTTGTTTTTTCACTGTTGGTGGCTAAAAGAATAAATGTTTATAGATTATACTGAAGTACTGAGCTTTGTTGTTTTTGGTAAAATGAAGAGCCACTGTACGCTGATTGATAAGAGATAGGCTTTGATTTTATATTC... | pathogenic | 325,350 |
Is the genetic change at chromosome 22, position 29661360, within gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTATAATCCTCAGAAAACAGTTTTTTTGGTTTTTAAAAATCTTTTTTGTTTTTTAGAGGTGGAGTTTTGCTATATCGCCCAGGCCTGCTAGGCTCAAGTGATCCTTCCACCCCAGCCTTCCAAGTAGCTGGGGAGTATCACTGTGCCTGGCTGAAAAGGTTTCTTATTAGGGAATATTTCTACATCAGTCAGACTAATGGATACTGTTTTTTGTGTGTGTTTCCTATATTGAGCAATAGACAAAGCTACTGGCTATCTTAGTGTCTTTTATGTTAAATTTCCTGAAATCTCACCATTAACTAAGGAAGATGTATGCTTAA... | TTATAATCCTCAGAAAACAGTTTTTTTGGTTTTTAAAAATCTTTTTTGTTTTTTAGAGGTGGAGTTTTGCTATATCGCCCAGGCCTGCTAGGCTCAAGTGATCCTTCCACCCCAGCCTTCCAAGTAGCTGGGGAGTATCACTGTGCCTGGCTGAAAAGGTTTCTTATTAGGGAATATTTCTACATCAGTCAGACTAATGGATACTGTTTTTTGTGTGTGTTTCCTATATTGAGCAATAGACAAAGCTACTGGCTATCTTAGTGTCTTTTATGTTAAATTTCCTGAAATCTCACCATTAACTAAGGAAGATGTATGCTTAA... | benign | 325,396 |
Is the variant located on chromosome 22 at position 29671831, gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Neurofibromatosis,_type_2'] | ATTTAGAATGTGAGTAAGTCAATGACTTACCTTCCAGACCTTAGTTTTCTCATCCATCAGGTGAAACTAATGATATACCTTCTCCATCTCAGATGAAGGGACGTATATTACACCTTACAGTCTTTGTATGCAGTAAACTTCTTTTGTGAATAGGAGGTCTTTTATATTGGGGTAGAGGTCTCAGGGAAAGTACAGGGCCAGGAACTGAAGGAGATTACCTGGCTTTTTTTTTTAATAAAAGGGTCTTGTTCTGTCACTGAGGCTGGAGTGCAGTGGTGCCATCATAGCTCACTGTAACCTCAAGCTCCTGGGCTTGAGCA... | ATTTAGAATGTGAGTAAGTCAATGACTTACCTTCCAGACCTTAGTTTTCTCATCCATCAGGTGAAACTAATGATATACCTTCTCCATCTCAGATGAAGGGACGTATATTACACCTTACAGTCTTTGTATGCAGTAAACTTCTTTTGTGAATAGGAGGTCTTTTATATTGGGGTAGAGGTCTCAGGGAAAGTACAGGGCCAGGAACTGAAGGAGATTACCTGGCTTTTTTTTTTAATAAAAGGGTCTTGTTCTGTCACTGAGGCTGGAGTGCAGTGGTGCCATCATAGCTCACTGTAACCTCAAGCTCCTGGGCTTGAGCA... | pathogenic | 325,427 |
Gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor) variant at chromosome position 29673477 on chromosome 22: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neurofibromatosis,_type_2'] | TGAGGCAGGAGAATTGATTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGTCCCCTCCACCAAAAAAAAAGAATGCCTTTTTCTATCCGGGTCAAGACTCAACAGGTTTTTATTGTTTGTTCATTTGTTCATTCACCACTAGACTGTTTTTCAAGTGGCACAGCTTTCAACTCTGCAACTGGTTTAGAAGGACGGGGTGGGGGGCAATAAGAATGACCCTGGCTACCTAAAGGAAAGGGAAGGAAAAAGGTCCCAAAAGGGGAGACTGGAGATG... | TGAGGCAGGAGAATTGATTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGTCCCCTCCACCAAAAAAAAAGAATGCCTTTTTCTATCCGGGTCAAGACTCAACAGGTTTTTATTGTTTGTTCATTTGTTCATTCACCACTAGACTGTTTTTCAAGTGGCACAGCTTTCAACTCTGCAACTGGTTTAGAAGGACGGGGTGGGGGGCAATAAGAATGACCCTGGCTACCTAAAGGAAAGGGAAGGAAAAAGGTCCCAAAAGGGGAGACTGGAGATG... | pathogenic | 325,482 |
Mutation found at chromosome 22 position 29674839, gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Neurofibromatosis,_type_2'] | TGTATTTTTAGTAGAAATGGGTTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAAGGCTGGGATTATAGGCGTGAGCCACCGTGCCCCACCTGCCACATGTCTCTTGCAGGGGACAAAAAACTCCTCTGGTTCTAACCACTGATTTAAAGGGAAAGAACAGAGTTTAAGTTGTTTTTCTCCACGTGAAGCATAAGCCTGAGCTGAGGTGGGTACTCAGAGAAGGTGCTCTTGTTACTCCCCATGGGTGCAGCCCGAAGGGCCCTTCTGAAAAGTTGGGGAAT... | TGTATTTTTAGTAGAAATGGGTTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAAGGCTGGGATTATAGGCGTGAGCCACCGTGCCCCACCTGCCACATGTCTCTTGCAGGGGACAAAAAACTCCTCTGGTTCTAACCACTGATTTAAAGGGAAAGAACAGAGTTTAAGTTGTTTTTCTCCACGTGAAGCATAAGCCTGAGCTGAGGTGGGTACTCAGAGAAGGTGCTCTTGTTACTCCCCATGGGTGCAGCCCGAAGGGCCCTTCTGAAAAGTTGGGGAAT... | pathogenic | 325,486 |
Does the chromosome 22 mutation at position 30607368 within gene TCN2 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Transcobalamin_II_deficiency'] | TGTCTTCCTATTCCTACTCCCCCACCCTCTAGCACTGAGTCCAGGTAGGTAGGCAGGGGGGTGTCTCCCTCCTTTACTTCGACACCCTAACTACCTTGGGGATCAGAAGTGACTCTCTGGAAGGATGCTGCTGCTTCTCACCAGAGGCTGACGATAACGAAGGCTATCCTCCATGGCCACCTCCTCCAGGCTGCCTTCCTGGAAATAGGAATCATAATAGTTGTTACTGGAAACAGGCAGAGGGTTGGGGGAGCCAAGGCAGTCCCACCCAGGACCAAGGTGGCTCCATTGCACACACTTCACCATGACTCCCCTGAAGG... | TGTCTTCCTATTCCTACTCCCCCACCCTCTAGCACTGAGTCCAGGTAGGTAGGCAGGGGGGTGTCTCCCTCCTTTACTTCGACACCCTAACTACCTTGGGGATCAGAAGTGACTCTCTGGAAGGATGCTGCTGCTTCTCACCAGAGGCTGACGATAACGAAGGCTATCCTCCATGGCCACCTCCTCCAGGCTGCCTTCCTGGAAATAGGAATCATAATAGTTGTTACTGGAAACAGGCAGAGGGTTGGGGGAGCCAAGGCAGTCCCACCCAGGACCAAGGTGGCTCCATTGCACACACTTCACCATGACTCCCCTGAAGG... | pathogenic | 325,587 |
Is the genetic mutation found on chromosome 22 at position 30610870, within the gene TCN2 (transcobalamin 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Transcobalamin_II_deficiency'] | TCCTCCTGGCTGATCTGGTCCTCAGCCTTGGACAGTTAGTCCATTAACCTGACCCCACAGGAGCCCCAATCCCTTGGGGTCTGGGGAATCTTGAACTGGGGTTTGGGGTGCAAATATCTGCACTGAGTCACTTAATTGCACCCAGCCTCATTCCTTTATCTGTAAAGTGGGCTAAGAATGCTCCCCTGCCTTCCTCCTCGGTGTAGTACAAGGAAGGATCCCATGACACCTGCTCTCCCAGTTTAAAGCTCTATATGTATGTTGTGAAATTGACAGGGATCGCTGCACAAACGCTAATGCAAAGTGGGCTCCTGTGCTTC... | TCCTCCTGGCTGATCTGGTCCTCAGCCTTGGACAGTTAGTCCATTAACCTGACCCCACAGGAGCCCCAATCCCTTGGGGTCTGGGGAATCTTGAACTGGGGTTTGGGGTGCAAATATCTGCACTGAGTCACTTAATTGCACCCAGCCTCATTCCTTTATCTGTAAAGTGGGCTAAGAATGCTCCCCTGCCTTCCTCCTCGGTGTAGTACAAGGAAGGATCCCATGACACCTGCTCTCCCAGTTTAAAGCTCTATATGTATGTTGTGAAATTGACAGGGATCGCTGCACAAACGCTAATGCAAAGTGGGCTCCTGTGCTTC... | pathogenic | 325,592 |
The genetic variant at chromosome 22, position 30612957, affecting gene TCN2 (transcobalamin 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['TCN2-related_disorder', 'Transcobalamin_II_deficiency'] | GGCCAGCACCTCTTACCTTGGATGGACCGGCTTTCCCTGGAGCACTTGAACCCCAGCATCTATGTGGGCCTACGCCTCTCCAGTCTGCAGGCTGGGACCAAGGAAGACCTCTACCTGCACAGCCTCAAGCTTGGTTACCAGCAGTGCCTCCTAGGGTATTGCCACACTCTCTTTTTCCATGTCTTGCTCCACATACTAAGAGATGGGAAACTTGGGTACTAGTTTGGGCCTGTCACCACTTTGTGGGCAGACCTTAGGCAAATTTTCTCCATCTATAGAATGGAGGACCTTTGTCCATCTATAGAATGAAGGGGTTGGTT... | GGCCAGCACCTCTTACCTTGGATGGACCGGCTTTCCCTGGAGCACTTGAACCCCAGCATCTATGTGGGCCTACGCCTCTCCAGTCTGCAGGCTGGGACCAAGGAAGACCTCTACCTGCACAGCCTCAAGCTTGGTTACCAGCAGTGCCTCCTAGGGTATTGCCACACTCTCTTTTTCCATGTCTTGCTCCACATACTAAGAGATGGGAAACTTGGGTACTAGTTTGGGCCTGTCACCACTTTGTGGGCAGACCTTAGGCAAATTTTCTCCATCTATAGAATGGAGGACCTTTGTCCATCTATAGAATGAAGGGGTTGGTT... | pathogenic | 325,599 |
Evaluate the clinical significance of the mutation at chromosome 22, position 30612965 in gene TCN2 (transcobalamin 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Transcobalamin_II_deficiency'] | CCTCTTACCTTGGATGGACCGGCTTTCCCTGGAGCACTTGAACCCCAGCATCTATGTGGGCCTACGCCTCTCCAGTCTGCAGGCTGGGACCAAGGAAGACCTCTACCTGCACAGCCTCAAGCTTGGTTACCAGCAGTGCCTCCTAGGGTATTGCCACACTCTCTTTTTCCATGTCTTGCTCCACATACTAAGAGATGGGAAACTTGGGTACTAGTTTGGGCCTGTCACCACTTTGTGGGCAGACCTTAGGCAAATTTTCTCCATCTATAGAATGGAGGACCTTTGTCCATCTATAGAATGAAGGGGTTGGTTGGATTAGA... | CCTCTTACCTTGGATGGACCGGCTTTCCCTGGAGCACTTGAACCCCAGCATCTATGTGGGCCTACGCCTCTCCAGTCTGCAGGCTGGGACCAAGGAAGACCTCTACCTGCACAGCCTCAAGCTTGGTTACCAGCAGTGCCTCCTAGGGTATTGCCACACTCTCTTTTTCCATGTCTTGCTCCACATACTAAGAGATGGGAAACTTGGGTACTAGTTTGGGCCTGTCACCACTTTGTGGGCAGACCTTAGGCAAATTTTCTCCATCTATAGAATGGAGGACCTTTGTCCATCTATAGAATGAAGGGGTTGGTTGGATTAGA... | pathogenic | 325,600 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 30614346, gene TCN2 (transcobalamin 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Transcobalamin_II_deficiency'] | CAGCACTTTGGGAGGCCAAGGTAGGTAGATCACATGAGGTTAGGAGTTCGAAACCAGTCTGGCCAACATAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCAAGGGTGGTGGTGGGCAACTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGAAGAATCGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCTGAGAACATGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAGAAAATAAATAAATAAAATAAAAAAATAAAAAAGGAGGGGGCATATGGGTGAAGTATGGACAAA... | CAGCACTTTGGGAGGCCAAGGTAGGTAGATCACATGAGGTTAGGAGTTCGAAACCAGTCTGGCCAACATAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCAAGGGTGGTGGTGGGCAACTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGAAGAATCGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCTGAGAACATGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAGAAAATAAATAAATAAAATAAAAAAATAAAAAAGGAGGGGGCATATGGGTGAAGTATGGACAAA... | pathogenic | 325,606 |
Is the genetic change at chromosome 22, position 30615517, within gene TCN2 (transcobalamin 2) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCTTGCCTTAGCCTCCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTTAGGCCCACTGACAAGCCTTGTATTGGCTAGCCACCAAGATTGACTTGATTATCCACCTTCGGGACAACTGGACAGCCTGCTTATGACTTACGCCATAGTCTGTCTCTACTAGCTCTCCTGCCCTGACTTGACCCAGCATACAACAGCCAGAGCCAGCCTTTTCAATATAAACCTGATCTTGCTGGCACTGCTTAAACCCTGCAGGGGCCTCGCAC... | GGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCTTGCCTTAGCCTCCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTTAGGCCCACTGACAAGCCTTGTATTGGCTAGCCACCAAGATTGACTTGATTATCCACCTTCGGGACAACTGGACAGCCTGCTTATGACTTACGCCATAGTCTGTCTCTACTAGCTCTCCTGCCCTGACTTGACCCAGCATACAACAGCCAGAGCCAGCCTTTTCAATATAAACCTGATCTTGCTGGCACTGCTTAAACCCTGCAGGGGCCTCGCAC... | benign | 325,621 |
Gene TCN2 (transcobalamin 2) variant at chromosome 22, position 30615611—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Transcobalamin_II_deficiency'] | GCCACTGCGTTAGGCCCACTGACAAGCCTTGTATTGGCTAGCCACCAAGATTGACTTGATTATCCACCTTCGGGACAACTGGACAGCCTGCTTATGACTTACGCCATAGTCTGTCTCTACTAGCTCTCCTGCCCTGACTTGACCCAGCATACAACAGCCAGAGCCAGCCTTTTCAATATAAACCTGATCTTGCTGGCACTGCTTAAACCCTGCAGGGGCCTCGCACTGCTCCATGGCCCAGCCTGTCTACCCTTACCTTCTGCCCAGGCTGTGCTCATCCATTCTCTGCCTCCCACACACCTGCCCTCTGTGGGCTCCAG... | GCCACTGCGTTAGGCCCACTGACAAGCCTTGTATTGGCTAGCCACCAAGATTGACTTGATTATCCACCTTCGGGACAACTGGACAGCCTGCTTATGACTTACGCCATAGTCTGTCTCTACTAGCTCTCCTGCCCTGACTTGACCCAGCATACAACAGCCAGAGCCAGCCTTTTCAATATAAACCTGATCTTGCTGGCACTGCTTAAACCCTGCAGGGGCCTCGCACTGCTCCATGGCCCAGCCTGTCTACCCTTACCTTCTGCCCAGGCTGTGCTCATCCATTCTCTGCCTCCCACACACCTGCCCTCTGTGGGCTCCAG... | pathogenic | 325,623 |
Classify the chromosome 22 variant at position 30617385 affecting gene TCN2 (transcobalamin 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Transcobalamin_II_deficiency'] | TGAAGCGCTCAAACTTCAACCCTGGTCGGAGACAACGGATCACCATGGCCATCAGAACAGTGCGAGAGGAGATCTTGAAGGCCCAGACCCCCGAGGGCCACTTTGGGAATGTCTACAGCACCCCATTGGCATTACAGGTGGGAAAGAGACCCTGGAGCCATGGCCACCCTGGGGAACAGTCAGGGGTGGAGTGGTCAGGTGCTGGAACACCTAGCCCCTCCCTGCCGGCTGACTTCCTCTCTCTCTTCCTCACTCTATCACCAGTTCCTCATGACTTCCCCCATGCGTGGGGCAGAACTGGGAACAGCATGTCTCAAGGC... | TGAAGCGCTCAAACTTCAACCCTGGTCGGAGACAACGGATCACCATGGCCATCAGAACAGTGCGAGAGGAGATCTTGAAGGCCCAGACCCCCGAGGGCCACTTTGGGAATGTCTACAGCACCCCATTGGCATTACAGGTGGGAAAGAGACCCTGGAGCCATGGCCACCCTGGGGAACAGTCAGGGGTGGAGTGGTCAGGTGCTGGAACACCTAGCCCCTCCCTGCCGGCTGACTTCCTCTCTCTCTTCCTCACTCTATCACCAGTTCCTCATGACTTCCCCCATGCGTGGGGCAGAACTGGGAACAGCATGTCTCAAGGC... | pathogenic | 325,633 |
A mutation at chromosome position 30622986 on chromosome 22 in gene TCN2 (transcobalamin 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Transcobalamin_II_deficiency'] | GACATTCCTTAGAACAGTAGTTTCCCTTCGCTAAAGTCACCCCAAATAGGGTGGTGGTTGTTGTTGTTGTTTTGAGACGGAGTTGCATTCAGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGGGGCCCACCATCACACCTGGCTAGTTTTTGTATTTTTAGTAGAAATAGGGTTTCACCATGTGAGCCAGGCTGGTGTCAAACTCCCAACCTCAGGTGATCCACCCACCTCCGCCTCCTCAAGT... | GACATTCCTTAGAACAGTAGTTTCCCTTCGCTAAAGTCACCCCAAATAGGGTGGTGGTTGTTGTTGTTGTTTTGAGACGGAGTTGCATTCAGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGGGGCCCACCATCACACCTGGCTAGTTTTTGTATTTTTAGTAGAAATAGGGTTTCACCATGTGAGCCAGGCTGGTGTCAAACTCCCAACCTCAGGTGATCCACCCACCTCCGCCTCCTCAAGT... | pathogenic | 325,646 |
Variant at chromosome 22, position 30932538, gene MORC2 (MORC family CW-type zinc finger 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AGCAAGTCCTAAGAAGTACATGGGTTCAAATCTGGTCTCTGTCACTGACCAACAGACTCTTTACCTTTCTGAGCCTTAGTTTCTTCAACTCCTGCTTCATTTCACATTTTAAAAAGTAGAATAAAGACAAACTCCATGTTTTTATCTCTGGCAAACTTTATCAAGCACACAACTGCCCCACGAGGACCCGACATCTTGAATATACTAATCCTGCAGTTTCCATTCCCATTGTCTTTTCTCTAGAACCTCTTTCCTAGAAAACTTAGCTATTCCTATAATAGAAAAATCATCCCACTTCATGTGGACAATTCCCAGAGCCC... | AGCAAGTCCTAAGAAGTACATGGGTTCAAATCTGGTCTCTGTCACTGACCAACAGACTCTTTACCTTTCTGAGCCTTAGTTTCTTCAACTCCTGCTTCATTTCACATTTTAAAAAGTAGAATAAAGACAAACTCCATGTTTTTATCTCTGGCAAACTTTATCAAGCACACAACTGCCCCACGAGGACCCGACATCTTGAATATACTAATCCTGCAGTTTCCATTCCCATTGTCTTTTCTCTAGAACCTCTTTCCTAGAAAACTTAGCTATTCCTATAATAGAAAAATCATCCCACTTCATGTGGACAATTCCCAGAGCCC... | benign | 325,676 |
Variant in gene MORC2 (MORC family CW-type zinc finger 2), located at chromosome 22 position 30950456: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | AAACACATTCCTAGCCCCTACCCAGATCCACTGAATCAGGCCAGCAATCTGCCATGGAAACATCAAAGGAGGAGAAATAAAGGCAGAAACCAGGCTCTCACAGCAATGATAGCATGTAATTCTTAACCTACTTGGTATGCATTATCATCTCAATTTACAAAGGAGGAAGCTGAGGCTTAGAGACGTAGTAGCGGAAGTGAGATTTGAACCTTAGCTTGTCATTTAAGTGAAATGCACAGCAGCTCCATTTTGCAGTCAGAAAGACCTGGTTCCTACCCTAGCGCTCTACACATAGGCATTTTTAATGCCTTTGGGAAAGT... | AAACACATTCCTAGCCCCTACCCAGATCCACTGAATCAGGCCAGCAATCTGCCATGGAAACATCAAAGGAGGAGAAATAAAGGCAGAAACCAGGCTCTCACAGCAATGATAGCATGTAATTCTTAACCTACTTGGTATGCATTATCATCTCAATTTACAAAGGAGGAAGCTGAGGCTTAGAGACGTAGTAGCGGAAGTGAGATTTGAACCTTAGCTTGTCATTTAAGTGAAATGCACAGCAGCTCCATTTTGCAGTCAGAAAGACCTGGTTCCTACCCTAGCGCTCTACACATAGGCATTTTTAATGCCTTTGGGAAAGT... | benign | 325,730 |
Variant on chromosome 22, at position 31760683, affecting DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_focal_epilepsy_with_variable_foci'] | TGAGTGTCTCATAGGATCCATGGAACTGGGCAATTCACTGTTTCCAAATGATGTCCAAGGCAGATAGCTCTCTTTGCCTTTCAAAATGCTCATGCTGTGATGGCTCAATCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTAGGTCATTTGAGCCCGGGAGTTCGAGACCAGCCTGGGCAACATAGAGGGACCCTGTCTTAAAAAAAAATGATCATGCCTTCTAGGATTTGATCAACAAATAATTTTTCAAAAGTGGTCCATTCCTTCGTTTTTTTTTTTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTAGAG... | TGAGTGTCTCATAGGATCCATGGAACTGGGCAATTCACTGTTTCCAAATGATGTCCAAGGCAGATAGCTCTCTTTGCCTTTCAAAATGCTCATGCTGTGATGGCTCAATCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTAGGTCATTTGAGCCCGGGAGTTCGAGACCAGCCTGGGCAACATAGAGGGACCCTGTCTTAAAAAAAAATGATCATGCCTTCTAGGATTTGATCAACAAATAATTTTTCAAAAGTGGTCCATTCCTTCGTTTTTTTTTTTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTAGAG... | pathogenic | 325,767 |
Mutation found at chromosome 22 position 31764978, gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Epilepsy,_familial_focal,_with_variable_foci_1', 'Familial_focal_epilepsy_with_variable_foci'] | TCAGCCTCCCAGGTAGTTAGGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTATATTTATATTTTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAACGCAATGACATGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGGGATTCTCCTGCCTCAGCCTCCTCAGTAGCTGGGATTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACTATGTTGTCCAGGCTAGTCTCGAACTGCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCA... | TCAGCCTCCCAGGTAGTTAGGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTATATTTATATTTTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAACGCAATGACATGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGGGATTCTCCTGCCTCAGCCTCCTCAGTAGCTGGGATTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACTATGTTGTCCAGGCTAGTCTCGAACTGCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCA... | pathogenic | 325,770 |
A mutation at chromosome position 31764996 on chromosome 22 in gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_focal_epilepsy_with_variable_foci'] | AGGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTATATTTATATTTTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAACGCAATGACATGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGGGATTCTCCTGCCTCAGCCTCCTCAGTAGCTGGGATTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACTATGTTGTCCAGGCTAGTCTCGAACTGCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGA... | AGGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTATATTTATATTTTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAACGCAATGACATGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGGGATTCTCCTGCCTCAGCCTCCTCAGTAGCTGGGATTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACTATGTTGTCCAGGCTAGTCTCGAACTGCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGA... | pathogenic | 325,771 |
Regarding the variant found on chromosome 22 at position 31765011 in gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_focal_epilepsy_with_variable_foci', 'Seizure'] | CACCACCATGCCTGGCTAATTTTTATATTTATATTTTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAACGCAATGACATGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGGGATTCTCCTGCCTCAGCCTCCTCAGTAGCTGGGATTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACTATGTTGTCCAGGCTAGTCTCGAACTGCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCATGC... | CACCACCATGCCTGGCTAATTTTTATATTTATATTTTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAACGCAATGACATGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGGGATTCTCCTGCCTCAGCCTCCTCAGTAGCTGGGATTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACTATGTTGTCCAGGCTAGTCTCGAACTGCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCATGC... | pathogenic | 325,772 |
Located at chromosome 22 position 31766673, the variant affecting gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AGGCTGGTCTCGAACTGCTGACCTCAGGTGATCTTCCTGCCTAGACCTCCCAAAGTGCTGAGATTACAGGTGTTAGCCACCATACCCAGCCTCTTCCTTCTTAAATTCTTTATTTTCCCTCCCTTCTCCCTTTTTCTCTCCATTTTTGTTGATTGCTTAGGCTCTGGTCTTATTTCACCTAAAAAGCAGAGAATTGTTTAAATTCTAAGCTCCTGAAAGGAAGAGACTGTGTGTTGCCCGTGTCAGATGATCAATTGTGTTGCTTACTGAGTTGAGTGTTTATAGATTAGAATATATGGATCTGCTTTTTCAAAATATGT... | AGGCTGGTCTCGAACTGCTGACCTCAGGTGATCTTCCTGCCTAGACCTCCCAAAGTGCTGAGATTACAGGTGTTAGCCACCATACCCAGCCTCTTCCTTCTTAAATTCTTTATTTTCCCTCCCTTCTCCCTTTTTCTCTCCATTTTTGTTGATTGCTTAGGCTCTGGTCTTATTTCACCTAAAAAGCAGAGAATTGTTTAAATTCTAAGCTCCTGAAAGGAAGAGACTGTGTGTTGCCCGTGTCAGATGATCAATTGTGTTGCTTACTGAGTTGAGTGTTTATAGATTAGAATATATGGATCTGCTTTTTCAAAATATGT... | benign | 325,780 |
The genetic variant at chromosome 22, position 31797616, affecting gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_focal_epilepsy_with_variable_foci', 'Inborn_genetic_diseases'] | ATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAATGCTGGCATGAGCCACCACGCCTGACCCATATGGTTCTCTTTTTATATGTTTTAAACCTTCATTTTCTTTCATTTCCTTTTTTTTTTTTTGAGTCGGAGTTTCGCTCTTGTTGCCCAGTCTGGAGTGCAATGACACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGATGCAAGCGATTCTCTTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGTGCCACCAC... | ATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAATGCTGGCATGAGCCACCACGCCTGACCCATATGGTTCTCTTTTTATATGTTTTAAACCTTCATTTTCTTTCATTTCCTTTTTTTTTTTTTGAGTCGGAGTTTCGCTCTTGTTGCCCAGTCTGGAGTGCAATGACACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGATGCAAGCGATTCTCTTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGTGCCACCAC... | pathogenic | 325,801 |
Clinical classification of chromosome 22, position 31802771, gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Epilepsy,_familial_focal,_with_variable_foci_1', 'Familial_focal_epilepsy_with_variable_foci', 'Intellectual_disability'] | TCCCAGCACTTTGGGAGGTTGAGGCGGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGCATGGTGGCGCACACCTGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGCGAGCAGAGATCACGCCGCTGCACTCCAACCTGGTTGATAGAAAAAGACACTATCTCAAAAAAAAATTCTTTTTTTTTTTTTTAAATAAATAGGCTGGCTGCAGTGGCTGACACCTGTAATACC... | TCCCAGCACTTTGGGAGGTTGAGGCGGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGCATGGTGGCGCACACCTGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGCGAGCAGAGATCACGCCGCTGCACTCCAACCTGGTTGATAGAAAAAGACACTATCTCAAAAAAAAATTCTTTTTTTTTTTTTTAAATAAATAGGCTGGCTGCAGTGGCTGACACCTGTAATACC... | pathogenic | 325,813 |
The mutation in gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit) at chromosome 22, position 31806103—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GTAAGTTAGCTTTGCCTACTACCCATTTAAATAACATGATTTATAGATAGGGACACTTGTCTCTGCCATTCCCTCCCCACAATTCTTTTTGTCTTTTCTTTTTTTAGGAATTGGTGTGGATTTGGTGTGCATGGGAGAGCAACCGTTACATGCTGTCCCATTGTTCAAGGTAATTAGATTTCGGATTTGTTTACTAAAGGCCAGTTGGAGTATAGTTAGAAAGAGAAAAATTCCAGGCGCTGTGGCATGCACTTATAGTCCCACTTACTCGAGAGGCTGAAGTGGGAAGATCCCTTAAGCCTAGGAGTTTCGGTATAGTT... | GTAAGTTAGCTTTGCCTACTACCCATTTAAATAACATGATTTATAGATAGGGACACTTGTCTCTGCCATTCCCTCCCCACAATTCTTTTTGTCTTTTCTTTTTTTAGGAATTGGTGTGGATTTGGTGTGCATGGGAGAGCAACCGTTACATGCTGTCCCATTGTTCAAGGTAATTAGATTTCGGATTTGTTTACTAAAGGCCAGTTGGAGTATAGTTAGAAAGAGAAAAATTCCAGGCGCTGTGGCATGCACTTATAGTCCCACTTACTCGAGAGGCTGAAGTGGGAAGATCCCTTAAGCCTAGGAGTTTCGGTATAGTT... | benign | 325,821 |
Is the genetic variant on chromosome 22, position 31806113, gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TTTGCCTACTACCCATTTAAATAACATGATTTATAGATAGGGACACTTGTCTCTGCCATTCCCTCCCCACAATTCTTTTTGTCTTTTCTTTTTTTAGGAATTGGTGTGGATTTGGTGTGCATGGGAGAGCAACCGTTACATGCTGTCCCATTGTTCAAGGTAATTAGATTTCGGATTTGTTTACTAAAGGCCAGTTGGAGTATAGTTAGAAAGAGAAAAATTCCAGGCGCTGTGGCATGCACTTATAGTCCCACTTACTCGAGAGGCTGAAGTGGGAAGATCCCTTAAGCCTAGGAGTTTCGGTATAGTTTGCTATGAAC... | TTTGCCTACTACCCATTTAAATAACATGATTTATAGATAGGGACACTTGTCTCTGCCATTCCCTCCCCACAATTCTTTTTGTCTTTTCTTTTTTTAGGAATTGGTGTGGATTTGGTGTGCATGGGAGAGCAACCGTTACATGCTGTCCCATTGTTCAAGGTAATTAGATTTCGGATTTGTTTACTAAAGGCCAGTTGGAGTATAGTTAGAAAGAGAAAAATTCCAGGCGCTGTGGCATGCACTTATAGTCCCACTTACTCGAGAGGCTGAAGTGGGAAGATCCCTTAAGCCTAGGAGTTTCGGTATAGTTTGCTATGAAC... | benign | 325,823 |
Is the variant located on chromosome 22 at position 31815005, gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Epilepsy,_familial_focal,_with_variable_foci_1', 'Familial_focal_epilepsy_with_variable_foci'] | CTCGAACTCCCGACCCCAGGTGATCCACCCACCTTGGCCTCCAAAAGTGCTAGGATTATAGGTGTGAGCCACTGCCCCCGCCAGATTTCTTAACTCTGTAGCTTTAAGCGCAACTGAGTGGAAGAATATTATGTCTCTTAATTTTGTGGCAAATGAACTTAGAGTGACCACATGATTGTTTTCTGCCCTTTTCTCTCATCCAGTCCTACCTGAGAAGGCTTAGAGCTCAGAATTAAGTGCTGTCAGCAGCCTCTCTCCTATGTGTGGATGCTGCTTAGGGGCTCAGTAAGAGCTACTTAGGGGCTTTTCTTTGTAGTCTT... | CTCGAACTCCCGACCCCAGGTGATCCACCCACCTTGGCCTCCAAAAGTGCTAGGATTATAGGTGTGAGCCACTGCCCCCGCCAGATTTCTTAACTCTGTAGCTTTAAGCGCAACTGAGTGGAAGAATATTATGTCTCTTAATTTTGTGGCAAATGAACTTAGAGTGACCACATGATTGTTTTCTGCCCTTTTCTCTCATCCAGTCCTACCTGAGAAGGCTTAGAGCTCAGAATTAAGTGCTGTCAGCAGCCTCTCTCCTATGTGTGGATGCTGCTTAGGGGCTCAGTAAGAGCTACTTAGGGGCTTTTCTTTGTAGTCTT... | pathogenic | 325,844 |
Considering the genetic mutation at chromosome 22, position 31821588, impacting DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['DEPDC5-related_disorder', 'Familial_focal_epilepsy_with_variable_foci'] | CTCACTGCAGCCTCAACCTTCAGGGCTCAGGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTGTAGGTACGTGCCACCAGGCCTGGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCTAGGCTGGTCTTGAACTCCTGGACACAAGCAATCTGCCCACCTTAACCTCCCAGAGTGCTGGGATTATAGATGTGAGCCACCGCATCCGGCCCTTTGTTTCTATTTGAGAGGAACTATGCATTGCCACCTGCTTTCTTTCCTAAGTCAGATGTCCCTCATTCTTGTTCATTCCTTCTTCTCT... | CTCACTGCAGCCTCAACCTTCAGGGCTCAGGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTGTAGGTACGTGCCACCAGGCCTGGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCTAGGCTGGTCTTGAACTCCTGGACACAAGCAATCTGCCCACCTTAACCTCCCAGAGTGCTGGGATTATAGATGTGAGCCACCGCATCCGGCCCTTTGTTTCTATTTGAGAGGAACTATGCATTGCCACCTGCTTTCTTTCCTAAGTCAGATGTCCCTCATTCTTGTTCATTCCTTCTTCTCT... | pathogenic | 325,862 |
Benign or pathogenic: chromosome 22, position 31821592, gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_focal_epilepsy_with_variable_foci', 'Inborn_genetic_diseases'] | CTGCAGCCTCAACCTTCAGGGCTCAGGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTGTAGGTACGTGCCACCAGGCCTGGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCTAGGCTGGTCTTGAACTCCTGGACACAAGCAATCTGCCCACCTTAACCTCCCAGAGTGCTGGGATTATAGATGTGAGCCACCGCATCCGGCCCTTTGTTTCTATTTGAGAGGAACTATGCATTGCCACCTGCTTTCTTTCCTAAGTCAGATGTCCCTCATTCTTGTTCATTCCTTCTTCTCTTAGA... | CTGCAGCCTCAACCTTCAGGGCTCAGGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTGTAGGTACGTGCCACCAGGCCTGGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCTAGGCTGGTCTTGAACTCCTGGACACAAGCAATCTGCCCACCTTAACCTCCCAGAGTGCTGGGATTATAGATGTGAGCCACCGCATCCGGCCCTTTGTTTCTATTTGAGAGGAACTATGCATTGCCACCTGCTTTCTTTCCTAAGTCAGATGTCCCTCATTCTTGTTCATTCCTTCTTCTCTTAGA... | pathogenic | 325,863 |
Does the chromosome 22 mutation at position 31847034 within gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | ACCACCACCCTGTGTTTTCCTTGCCCCCTTAGCTTAATTGAGTCCCTGAAGTTCTGGAGGACCCGCTTCCTGCTGCTGCCAGCCTGTGTCACCGCCACCAAGCGCATCACGGAGGGGGAGGCCCACTGCGACATCTATGGGGACAGGCCCCGTGCAGACGAGGACGAGTGGCAACTCCTGGATGGTTTTGTCCGCTTTGTGGAGGGCTTGAATCGCATTCGCAGGCGGCATCGCTCGGATCGCATGATGCGGGTAAGGGCTCCTTAGACTCAGGGAGTGCGCCTGGTGTGAGATGCAGGGCCTGCCACCTCCTCTATTAG... | ACCACCACCCTGTGTTTTCCTTGCCCCCTTAGCTTAATTGAGTCCCTGAAGTTCTGGAGGACCCGCTTCCTGCTGCTGCCAGCCTGTGTCACCGCCACCAAGCGCATCACGGAGGGGGAGGCCCACTGCGACATCTATGGGGACAGGCCCCGTGCAGACGAGGACGAGTGGCAACTCCTGGATGGTTTTGTCCGCTTTGTGGAGGGCTTGAATCGCATTCGCAGGCGGCATCGCTCGGATCGCATGATGCGGGTAAGGGCTCCTTAGACTCAGGGAGTGCGCCTGGTGTGAGATGCAGGGCCTGCCACCTCCTCTATTAG... | benign | 325,917 |
For chromosome 22, position 31870579, gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GTCTTCTCACTTCACTCTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCACGCCTGGCTAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCGTGTTGCCTAGGGTGGCCTCGAACTCCTGGACTCAAGTGATCCACTCGCCTTCGCCTCCCAAAGTGCCAAGATTACAGGCGTGAGCCACCGCACCCAGCTGAGAAGCTTTGTTTTAGAAAGCAATTTTTGCTAACAAAATATCTGATAGAAAGATCCCTTCTGGAAGTACCTAAAAACCTCAAGTTAGGAGGTTCTAAGAGCCTTACACTTTTCCAGAATTGCT... | GTCTTCTCACTTCACTCTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCACGCCTGGCTAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCGTGTTGCCTAGGGTGGCCTCGAACTCCTGGACTCAAGTGATCCACTCGCCTTCGCCTCCCAAAGTGCCAAGATTACAGGCGTGAGCCACCGCACCCAGCTGAGAAGCTTTGTTTTAGAAAGCAATTTTTGCTAACAAAATATCTGATAGAAAGATCCCTTCTGGAAGTACCTAAAAACCTCAAGTTAGGAGGTTCTAAGAGCCTTACACTTTTCCAGAATTGCT... | benign | 325,932 |
Is the genetic change at chromosome 22, position 31879643, within gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_focal_epilepsy_with_variable_foci'] | CAAAAAATAGCTGGGCATGGTGGTGGCCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGGTTGCAGTAAGATGAGATCACGCCACTGCACTTCCAGTCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGCAAAAACAGAAAACCAGACCAGCATCTCCAGTACACCTATAGCAAAAGGGGACCTTGCCTGTTCTGGAAGTGACTCCTATCCTGCAGACAAATGGCTTCTCTGCCTCTGGGTTTAAAGAATCAAACATGGCCGGGAG... | CAAAAAATAGCTGGGCATGGTGGTGGCCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGGTTGCAGTAAGATGAGATCACGCCACTGCACTTCCAGTCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGCAAAAACAGAAAACCAGACCAGCATCTCCAGTACACCTATAGCAAAAGGGGACCTTGCCTGTTCTGGAAGTGACTCCTATCCTGCAGACAAATGGCTTCTCTGCCTCTGGGTTTAAAGAATCAAACATGGCCGGGAG... | pathogenic | 325,955 |
Chromosome 22, position 31893611, gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Epilepsy'] | ATTAAAATTGCTGACGCAAGAGCTGTTTATCTTTGTCAGTGAGAAAAACCCACTCAGGGCTTCTATCTGCAGAACCCAGAACTAAACTGACCACTTCAGCTGAAGAAAACTGTTGAATTCATGGGGGTAAGGGAGAATGAGGGGTGGATTATAGTTTATAGAAACCCTAGGTCTGGGGGTACATGTTCTCAGGATCTCTTAAGACTGTGCCTCAGGGAGGCAAAAAACAAACAGAAACCCTAGGTCTGGCAGTGCCCAGCCAGGCAGAACAGAAGCCTGACCTTTTCTTTGCTTCTGAGCGTATTTTAGGGCCTTAGCCT... | ATTAAAATTGCTGACGCAAGAGCTGTTTATCTTTGTCAGTGAGAAAAACCCACTCAGGGCTTCTATCTGCAGAACCCAGAACTAAACTGACCACTTCAGCTGAAGAAAACTGTTGAATTCATGGGGGTAAGGGAGAATGAGGGGTGGATTATAGTTTATAGAAACCCTAGGTCTGGGGGTACATGTTCTCAGGATCTCTTAAGACTGTGCCTCAGGGAGGCAAAAAACAAACAGAAACCCTAGGTCTGGCAGTGCCCAGCCAGGCAGAACAGAAGCCTGACCTTTTCTTTGCTTCTGAGCGTATTTTAGGGCCTTAGCCT... | pathogenic | 325,961 |
Is the variant located on chromosome 22 at position 31893697, gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Epilepsy,_familial_focal,_with_variable_foci_1'] | CTGACCACTTCAGCTGAAGAAAACTGTTGAATTCATGGGGGTAAGGGAGAATGAGGGGTGGATTATAGTTTATAGAAACCCTAGGTCTGGGGGTACATGTTCTCAGGATCTCTTAAGACTGTGCCTCAGGGAGGCAAAAAACAAACAGAAACCCTAGGTCTGGCAGTGCCCAGCCAGGCAGAACAGAAGCCTGACCTTTTCTTTGCTTCTGAGCGTATTTTAGGGCCTTAGCCTGGTCAGGAACTTGATTGACACGTCTCTGAAACATCCTATCTTGAGTTGGTAGGATTTCTGAGCAGAAGTCCCAGATAGGATGAGTA... | CTGACCACTTCAGCTGAAGAAAACTGTTGAATTCATGGGGGTAAGGGAGAATGAGGGGTGGATTATAGTTTATAGAAACCCTAGGTCTGGGGGTACATGTTCTCAGGATCTCTTAAGACTGTGCCTCAGGGAGGCAAAAAACAAACAGAAACCCTAGGTCTGGCAGTGCCCAGCCAGGCAGAACAGAAGCCTGACCTTTTCTTTGCTTCTGAGCGTATTTTAGGGCCTTAGCCTGGTCAGGAACTTGATTGACACGTCTCTGAAACATCCTATCTTGAGTTGGTAGGATTTCTGAGCAGAAGTCCCAGATAGGATGAGTA... | pathogenic | 325,962 |
Variant in DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit), chromosome 22, position 31906501—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AGAAAGCAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCGAAGCAGGCGGATCACCTGAGGTCAGCAGTTCAAGACCAGCCTGGCCAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAACTGGTCATGGTGGCGCGTGCCTGTAATCCTAGCTACTTGGGAGGCTGGAAGCACAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCGGTGAGCCAAGATTGTACCACTGCAGTCCAGCCTGGATGACAGAGCAAGAGTAGAGAGGATTTTGCAAAGGCAAAATCCAGAGCCAAT... | AGAAAGCAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCGAAGCAGGCGGATCACCTGAGGTCAGCAGTTCAAGACCAGCCTGGCCAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAACTGGTCATGGTGGCGCGTGCCTGTAATCCTAGCTACTTGGGAGGCTGGAAGCACAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCGGTGAGCCAAGATTGTACCACTGCAGTCCAGCCTGGATGACAGAGCAAGAGTAGAGAGGATTTTGCAAAGGCAAAATCCAGAGCCAAT... | benign | 325,984 |
Gene HMOX1 (heme oxygenase 1) variant at chromosome position 35386802 on chromosome 22: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Heme_oxygenase_1_deficiency'] | ACCAGCCCCATCTAGTATGTGGCAGGTGAGGGAACTGACTAGCACAGTTGGCTAGCACAGTCACACGGACCTCAGATCATCTGCTCTAGGATAGGATAGGAAGCTGGGACCAGAGAAAGCAAGTGGCTCACCCATGGTCACACAGTTAAGGACTGGCAGAGTTGGGTAAGAACCAGGTCCGTCACACTCAAAAACCCAGGCTCTTTTGTACCAGACTGCCTGGCTTTCTGTCCCCTCAAGGAATAGAGCTGCTTTGAATGTTTGTGGCTCAGAAATAACTCAGAAACTCCAACCTAAATGTCTTAACTTTGTTCTCCTTC... | ACCAGCCCCATCTAGTATGTGGCAGGTGAGGGAACTGACTAGCACAGTTGGCTAGCACAGTCACACGGACCTCAGATCATCTGCTCTAGGATAGGATAGGAAGCTGGGACCAGAGAAAGCAAGTGGCTCACCCATGGTCACACAGTTAAGGACTGGCAGAGTTGGGTAAGAACCAGGTCCGTCACACTCAAAAACCCAGGCTCTTTTGTACCAGACTGCCTGGCTTTCTGTCCCCTCAAGGAATAGAGCTGCTTTGAATGTTTGTGGCTCAGAAATAACTCAGAAACTCCAACCTAAATGTCTTAACTTTGTTCTCCTTC... | pathogenic | 326,188 |
Determine if the mutation at chromosome 22, position 36282787 in gene MYH9 (myosin heavy chain 9) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TCTTAAGCTGACCCAGATAGTGTCCACTTTTTTAAATTTTTTTATTTATTTATTTTGAGACAGAGTCTCACTCTCGCCCAGGCTAGAGTGCAGTGGCACAATCTTAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACACCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGC... | TCTTAAGCTGACCCAGATAGTGTCCACTTTTTTAAATTTTTTTATTTATTTATTTTGAGACAGAGTCTCACTCTCGCCCAGGCTAGAGTGCAGTGGCACAATCTTAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACACCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGC... | benign | 326,294 |
Chromosome 22, position 36285338, gene MYH9 (myosin heavy chain 9): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TCTCTGGGAGGCCGAGGCGGGTGGAGCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTAAAACCCCGTCTCCACTAAAAATACAAAAATTAGCCGGGCATAGTGGTGCATGCCTGTAATCCCAGCTACTCCAGGGGCTGAGGGAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGCAAGCCGAGATTACACCATTGCACTCCAGTCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAACAAAAAAAATAAAAAAAACACGTAAACACATAAGAAAAAAACATGTAAGAAATGAGTATC... | TCTCTGGGAGGCCGAGGCGGGTGGAGCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTAAAACCCCGTCTCCACTAAAAATACAAAAATTAGCCGGGCATAGTGGTGCATGCCTGTAATCCCAGCTACTCCAGGGGCTGAGGGAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGCAAGCCGAGATTACACCATTGCACTCCAGTCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAACAAAAAAAATAAAAAAAACACGTAAACACATAAGAAAAAAACATGTAAGAAATGAGTATC... | benign | 326,315 |
Does the chromosome 22 mutation at position 36293308 within gene MYH9 (myosin heavy chain 9) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTATACATGGGAGACTTTTCATTTTGTTGTGTACAAGAAAAATTCTTCTGCCTTGGGATCTTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCAAAGGGTCCTCTGCCTAGGAAAACCGGAGAC... | TTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTATACATGGGAGACTTTTCATTTTGTTGTGTACAAGAAAAATTCTTCTGCCTTGGGATCTTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCAAAGGGTCCTCTGCCTAGGAAAACCGGAGAC... | benign | 326,365 |
Classify the chromosome 22 variant at position 36312004 affecting gene MYH9 (myosin heavy chain 9) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | AATAGAGATAGGGGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACAGGGCTGTAATCTCAGCCCCTAGGGGGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGTACTCTAGCCTGGGCAACAGAACAAGACTCCGTCTCAAAAAA... | AATAGAGATAGGGGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACAGGGCTGTAATCTCAGCCCCTAGGGGGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGTACTCTAGCCTGGGCAACAGAACAAGACTCCGTCTCAAAAAA... | benign | 326,452 |
Benign or pathogenic: chromosome 22, position 36320157, gene MYH9 (myosin heavy chain 9) variant? Disease(s) if pathogenic? | benign | CACGGACACCCCAGGATGGCCCACAACAGCCTCAACTGTGCTGCTGCAGGGACATTCACCCAGGAGGCAGCCAGCTGCCCTGGCCCCAGAGGACATACCTGCTCTTTAGTCTGCGCCTTCTGGACGTAATCCCGTCCCACCTTGATGCGCGGGGTGAGGATTCCTCTGGTGAAATCGGTCACATTGATACCCAAGAGATGGGACACCTTTTGGGCAGCTAAGATTTTTCAGAGAATAAGAGAGGGACAAAAAGTCCTAATTAGACCCAAGAGAGAAAGTTCTAATTAGACCCAAGAGAATAAGTCCCTCTGCTTGACTTG... | CACGGACACCCCAGGATGGCCCACAACAGCCTCAACTGTGCTGCTGCAGGGACATTCACCCAGGAGGCAGCCAGCTGCCCTGGCCCCAGAGGACATACCTGCTCTTTAGTCTGCGCCTTCTGGACGTAATCCCGTCCCACCTTGATGCGCGGGGTGAGGATTCCTCTGGTGAAATCGGTCACATTGATACCCAAGAGATGGGACACCTTTTGGGCAGCTAAGATTTTTCAGAGAATAAGAGAGGGACAAAAAGTCCTAATTAGACCCAAGAGAGAAAGTTCTAATTAGACCCAAGAGAATAAGTCCCTCTGCTTGACTTG... | benign | 326,491 |
Does the chromosome 22 mutation at position 36864180 within gene NCF4 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GACGCAAAGCCTGGCCCCTGCACCCCCTGGATTGGAACAGCAGGTGACCTCTGTTACCTACGTGGAGGCCACTCAGGGGGTCACCAGAGACAGGCCAGGCTGGTGTGTGCCTACGCGGGGAACAGAAGGCCCATGTTGGGGCCTGGGGCTGGAAGTAGAACCTGAAGCGTGGGTTGGGGCAAGGGCAGCAGAAGCAAATGCCTACAGGGGAGTCCACGTGGCCTTCCTGAGCCTCAGAGCGGGGTGCAGGAGCTGGGTAAGGCTGGCCGACCTGAATTCCTTCCTCCCCTCACATGCTCCTGGGGGACCCAGCCGCACGC... | GACGCAAAGCCTGGCCCCTGCACCCCCTGGATTGGAACAGCAGGTGACCTCTGTTACCTACGTGGAGGCCACTCAGGGGGTCACCAGAGACAGGCCAGGCTGGTGTGTGCCTACGCGGGGAACAGAAGGCCCATGTTGGGGCCTGGGGCTGGAAGTAGAACCTGAAGCGTGGGTTGGGGCAAGGGCAGCAGAAGCAAATGCCTACAGGGGAGTCCACGTGGCCTTCCTGAGCCTCAGAGCGGGGTGCAGGAGCTGGGTAAGGCTGGCCGACCTGAATTCCTTCCTCCCCTCACATGCTCCTGGGGGACCCAGCCGCACGC... | benign | 326,572 |
Is the variant located on chromosome 22 at position 36864916, gene NCF4, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_3'] | GGTGCCAGAAAACCTGCCCTGGCTGCCCTCCAAGGGTTCTTCCAACCTCGGCCTCCCCCAGGGCAGGCTCCAAAACCTCCCCCAGGCCAGGCTCCAAAGTCTGTGAACTGTGCGAGTGTGTCTTGAGCCAGAACATCCCGGCCCAGTAGGGCCTGGGTGAGGTCCCCAAGGGAGCGGATATTCCAGGGGACTTCCGGTTGGGTTTGCTGCTCTTCTTGCCCGCCCCACAGGCAGCCAGGCCATTCTCATGCTGCCCATCAAAAAACTCTATAATTGCAGACGACGGTAGTGGCCGTGTATTGAGCAGTACTGAGCACCTA... | GGTGCCAGAAAACCTGCCCTGGCTGCCCTCCAAGGGTTCTTCCAACCTCGGCCTCCCCCAGGGCAGGCTCCAAAACCTCCCCCAGGCCAGGCTCCAAAGTCTGTGAACTGTGCGAGTGTGTCTTGAGCCAGAACATCCCGGCCCAGTAGGGCCTGGGTGAGGTCCCCAAGGGAGCGGATATTCCAGGGGACTTCCGGTTGGGTTTGCTGCTCTTCTTGCCCGCCCCACAGGCAGCCAGGCCATTCTCATGCTGCCCATCAAAAAACTCTATAATTGCAGACGACGGTAGTGGCCGTGTATTGAGCAGTACTGAGCACCTA... | pathogenic | 326,574 |
Variant chromosome 22, position 37069345, gene TMPRSS6 (transmembrane serine protease 6): benign or pathogenic? Disease(s)? | benign | CCTGTCTGTACTAAAAATACAAAATTAGCTGGGTGTGGTGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAACCGCTTGAACCCGGGAGGAGGGGGATCCGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAACAAAAAAAAGAAAAAAGAAAAAAGCCCGTGTGGATGAGTGTCTTCCTCCAGCTTCTTGTCCCCCACCTCTGTCTGCTGAGGCACCTCTGGGCTCTGGCTGGCTCCTCGCTGCTCTGTTACAGCACCTGCAGATGTCTCCGAA... | CCTGTCTGTACTAAAAATACAAAATTAGCTGGGTGTGGTGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAACCGCTTGAACCCGGGAGGAGGGGGATCCGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAACAAAAAAAAGAAAAAAGAAAAAAGCCCGTGTGGATGAGTGTCTTCCTCCAGCTTCTTGTCCCCCACCTCTGTCTGCTGAGGCACCTCTGGGCTCTGGCTGGCTCCTCGCTGCTCTGTTACAGCACCTGCAGATGTCTCCGAA... | benign | 326,683 |
Mutation found at chromosome 22 position 37710446, gene TRIOBP (TRIO and F-actin binding protein): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Rare_genetic_deafness'] | AAAATTAGCCGGGCATGGTGTCGGGCACCTGTAATCACAGCTACTGGGGTGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGACTGCACCATTGCACTCTAACCTGGGCTATAAGAGCGAGACTCTGTCTCAAAAAAAAAGCCCTTTACAAATATTAACTCGTTTAATTCTCAGAACACCCCTAGGAGGTGGGTCCTGCTATCCTGCCGGTTTTGTAGATGAGGTAACTGAGGCACAGAGAGGATAAGTCACGTGGCCCAGGTCTTGGTCGCTTCTCAGCCTCCATTTCCGAGAGGA... | AAAATTAGCCGGGCATGGTGTCGGGCACCTGTAATCACAGCTACTGGGGTGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGACTGCACCATTGCACTCTAACCTGGGCTATAAGAGCGAGACTCTGTCTCAAAAAAAAAGCCCTTTACAAATATTAACTCGTTTAATTCTCAGAACACCCCTAGGAGGTGGGTCCTGCTATCCTGCCGGTTTTGTAGATGAGGTAACTGAGGCACAGAGAGGATAAGTCACGTGGCCCAGGTCTTGGTCGCTTCTCAGCCTCCATTTCCGAGAGGA... | pathogenic | 326,780 |
Chromosome 22, position 37723747, gene TRIOBP (TRIO and F-actin binding protein): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TGGAACTCCTGAGCTCGAGTGATCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTAAGCCACCACACCCATAGTTGTGGCTCCTTTAAGATGAGGCCATGATACCCTTTACTCTTCACCTAAAGCAGTAGCCAAGGGACATGTACATAGGGGTGCTCAACACCTGCTTGGTGACCGAGGGATTGAGCGGGGTGGAGGGTGACACACCAAGGTCATGGCAACTCTGTCATGAGGCTAGGAGTTGCAAAGAGGGTCACTACTGAGGACAGTTACATTAATCCTTTAGGCCAGTGCTTCTGAAACTATAAGGTG... | TGGAACTCCTGAGCTCGAGTGATCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTAAGCCACCACACCCATAGTTGTGGCTCCTTTAAGATGAGGCCATGATACCCTTTACTCTTCACCTAAAGCAGTAGCCAAGGGACATGTACATAGGGGTGCTCAACACCTGCTTGGTGACCGAGGGATTGAGCGGGGTGGAGGGTGACACACCAAGGTCATGGCAACTCTGTCATGAGGCTAGGAGTTGCAAAGAGGGTCACTACTGAGGACAGTTACATTAATCCTTTAGGCCAGTGCTTCTGAAACTATAAGGTG... | benign | 326,802 |
Considering the genetic mutation at chromosome 22, position 37724168, impacting TRIOBP (TRIO and F-actin binding protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TATAAAAGGTTGTCCATCCCTGCACCTTTCCTATCCTCATGGCAGCCCTAGGAGAAGCCTCAGGGTAGGAACATTTGGATACAAAAAAACAGGGGCTTTCTAGAGCTGTCGCACAGGAAACAGGCTCATTAGAACCTGTCTCTACTAAAAACACAAAAATGAGCTGGGCATAGTGGTGCATGCCTGTAATCCCAACTACTTGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCTTAGGTTGCGGTGAGCCGAGATCGCGTCATTGCACTCTAGCCTGGGTGACAGAACGAGACTCTGTCTCAAAAAAAAAAAA... | TATAAAAGGTTGTCCATCCCTGCACCTTTCCTATCCTCATGGCAGCCCTAGGAGAAGCCTCAGGGTAGGAACATTTGGATACAAAAAAACAGGGGCTTTCTAGAGCTGTCGCACAGGAAACAGGCTCATTAGAACCTGTCTCTACTAAAAACACAAAAATGAGCTGGGCATAGTGGTGCATGCCTGTAATCCCAACTACTTGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCTTAGGTTGCGGTGAGCCGAGATCGCGTCATTGCACTCTAGCCTGGGTGACAGAACGAGACTCTGTCTCAAAAAAAAAAAA... | benign | 326,811 |
Evaluate the clinical significance of the mutation at chromosome 22, position 37725764 in gene TRIOBP (TRIO and F-actin binding protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_28'] | ATCCCAGAGCCTCCTCTCCCAACAGAACCACTCAACGAGAGAATTCCAGAACATCCTGTGCCCAGCGGGACAATCCCAAAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGT... | ATCCCAGAGCCTCCTCTCCCAACAGAACCACTCAACGAGAGAATTCCAGAACATCCTGTGCCCAGCGGGACAATCCCAAAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGT... | pathogenic | 326,838 |
For chromosome 22, position 37725781, gene TRIOBP (TRIO and F-actin binding protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_28', 'Rare_genetic_deafness'] | CCCAACAGAACCACTCAACGAGAGAATTCCAGAACATCCTGTGCCCAGCGGGACAATCCCAAAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAA... | CCCAACAGAACCACTCAACGAGAGAATTCCAGAACATCCTGTGCCCAGCGGGACAATCCCAAAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAA... | pathogenic | 326,839 |
Does the chromosome 22 mutation at position 37726011 within gene TRIOBP (TRIO and F-actin binding protein) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_28', 'Hearing_loss,_autosomal_recessive'] | CAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCA... | CAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCA... | pathogenic | 326,845 |
The mutation impacting TRIOBP (TRIO and F-actin binding protein) on chromosome 22 at position 37734654: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_28'] | GAGCTCTTTTGCCAACAGCTAGGATGGCCTGGAGTTTTCAAGGCTAAGCGCTGGGATTCTGTTGGTTAACAGTGATGGGAGGGAAAAAGGAAAAGAAATCCAAAATTTACAATATGGACAGGAAAAGGCAGAAAGAATGGAACACGGGGGCACACAGCAGTCTGGCTCTGTCGTCCCACCTCGTGGGCTGCGATCATGATACAAGTGCTTGGCCCCTGGAACATAAGAAGCACTCAATAAATGCTTTGTCATAATGATTATGTGTGCCCAGTGCCTGGTACACAGTAGGTGCTCAATAAATCTTAATTCCCGCAAAGACC... | GAGCTCTTTTGCCAACAGCTAGGATGGCCTGGAGTTTTCAAGGCTAAGCGCTGGGATTCTGTTGGTTAACAGTGATGGGAGGGAAAAAGGAAAAGAAATCCAAAATTTACAATATGGACAGGAAAAGGCAGAAAGAATGGAACACGGGGGCACACAGCAGTCTGGCTCTGTCGTCCCACCTCGTGGGCTGCGATCATGATACAAGTGCTTGGCCCCTGGAACATAAGAAGCACTCAATAAATGCTTTGTCATAATGATTATGTGTGCCCAGTGCCTGGTACACAGTAGGTGCTCAATAAATCTTAATTCCCGCAAAGACC... | pathogenic | 326,864 |
For chromosome 22, position 37734765, gene TRIOBP (TRIO and F-actin binding protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic | ATATGGACAGGAAAAGGCAGAAAGAATGGAACACGGGGGCACACAGCAGTCTGGCTCTGTCGTCCCACCTCGTGGGCTGCGATCATGATACAAGTGCTTGGCCCCTGGAACATAAGAAGCACTCAATAAATGCTTTGTCATAATGATTATGTGTGCCCAGTGCCTGGTACACAGTAGGTGCTCAATAAATCTTAATTCCCGCAAAGACCAGTCTAACCTTTGTCTGGGGGTGGCTCTTGGGCTGCTGGTGGGGTGGTGGTTAGTCATAGGAAGTACTGGATGAGACAGGAGAGGGCCATGGCCAGGGCCAGATCCCCCTC... | ATATGGACAGGAAAAGGCAGAAAGAATGGAACACGGGGGCACACAGCAGTCTGGCTCTGTCGTCCCACCTCGTGGGCTGCGATCATGATACAAGTGCTTGGCCCCTGGAACATAAGAAGCACTCAATAAATGCTTTGTCATAATGATTATGTGTGCCCAGTGCCTGGTACACAGTAGGTGCTCAATAAATCTTAATTCCCGCAAAGACCAGTCTAACCTTTGTCTGGGGGTGGCTCTTGGGCTGCTGGTGGGGTGGTGGTTAGTCATAGGAAGTACTGGATGAGACAGGAGAGGGCCATGGCCAGGGCCAGATCCCCCTC... | pathogenic | 326,868 |
The mutation in gene TRIOBP (TRIO and F-actin binding protein) at chromosome 22, position 37734858—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_28'] | GTGCTTGGCCCCTGGAACATAAGAAGCACTCAATAAATGCTTTGTCATAATGATTATGTGTGCCCAGTGCCTGGTACACAGTAGGTGCTCAATAAATCTTAATTCCCGCAAAGACCAGTCTAACCTTTGTCTGGGGGTGGCTCTTGGGCTGCTGGTGGGGTGGTGGTTAGTCATAGGAAGTACTGGATGAGACAGGAGAGGGCCATGGCCAGGGCCAGATCCCCCTCCCCACCCAACCGCCTCTACTCCCCACTTTTCTCGTCATGTTCGCAAGAGCCTCATGAGGCAGAATAGAGCAGTGTTAACCATCCCCATTTTTC... | GTGCTTGGCCCCTGGAACATAAGAAGCACTCAATAAATGCTTTGTCATAATGATTATGTGTGCCCAGTGCCTGGTACACAGTAGGTGCTCAATAAATCTTAATTCCCGCAAAGACCAGTCTAACCTTTGTCTGGGGGTGGCTCTTGGGCTGCTGGTGGGGTGGTGGTTAGTCATAGGAAGTACTGGATGAGACAGGAGAGGGCCATGGCCAGGGCCAGATCCCCCTCCCCACCCAACCGCCTCTACTCCCCACTTTTCTCGTCATGTTCGCAAGAGCCTCATGAGGCAGAATAGAGCAGTGTTAACCATCCCCATTTTTC... | pathogenic | 326,872 |
Classify the chromosome 22 variant at position 37755093 affecting gene TRIOBP as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ATAGAACCCCTGTCCTACTTTACAGAGAGGCAATTGAGGTCTGCAGCAGCAACTCCGTTTACTTAGTGAGAGGAAAATGCTTCTAAGAGGCCTGGCCTCCCAGAACAAACCCAGCAACCTGGTTGGTGTCCATCCCTATGCCAAGGGCCATGACAGCCATCCACACAAGAGAGGATGGGCGCCGCTCGCCTCACCAGAAGGTCTAGGCACTTCTTTTTTTGTTTTTTATTTTTGTTTTTTTTTTTCTGAGGCAGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAACCTCGGCTCACTGTGTCTTCCGCCT... | ATAGAACCCCTGTCCTACTTTACAGAGAGGCAATTGAGGTCTGCAGCAGCAACTCCGTTTACTTAGTGAGAGGAAAATGCTTCTAAGAGGCCTGGCCTCCCAGAACAAACCCAGCAACCTGGTTGGTGTCCATCCCTATGCCAAGGGCCATGACAGCCATCCACACAAGAGAGGATGGGCGCCGCTCGCCTCACCAGAAGGTCTAGGCACTTCTTTTTTTGTTTTTTATTTTTGTTTTTTTTTTTCTGAGGCAGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAACCTCGGCTCACTGTGTCTTCCGCCT... | benign | 326,897 |
Determine if the mutation at chromosome 22, position 37765828 in gene TRIOBP (TRIO and F-actin binding protein) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CAGCTACCTAAATAATGCACATGTATTACCTCACGCTTCTGTAGGCGAGAAGTCTAACGCGAGTCTTGCCGCGCTGCAGCCAAGGCGTGGGCAGGACTGTGTTCCTCTGCAGGCACCCGTTGTATCCCTTGCCTGCTCCAGCTTCTGGTGGCCGTCCGCGTCCCTTGGCTCTCGGCCCCTTCCTTCATCTTCAAAGCCTGCAGAGGGGAAGTCGAGTCCTTCTCCTGCCACGTCACTCTGACCATCCCTTCCTGGTCACACCTCCCTTGAACTCTTCGCTTCTGCCCCCTTCGTCCACTTTTAAGGACCCTTGTGATTAC... | CAGCTACCTAAATAATGCACATGTATTACCTCACGCTTCTGTAGGCGAGAAGTCTAACGCGAGTCTTGCCGCGCTGCAGCCAAGGCGTGGGCAGGACTGTGTTCCTCTGCAGGCACCCGTTGTATCCCTTGCCTGCTCCAGCTTCTGGTGGCCGTCCGCGTCCCTTGGCTCTCGGCCCCTTCCTTCATCTTCAAAGCCTGCAGAGGGGAAGTCGAGTCCTTCTCCTGCCACGTCACTCTGACCATCCCTTCCTGGTCACACCTCCCTTGAACTCTTCGCTTCTGCCCCCTTCGTCCACTTTTAAGGACCCTTGTGATTAC... | benign | 326,923 |
Considering the genetic mutation at chromosome 22, position 37765831, impacting TRIOBP (TRIO and F-actin binding protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CTACCTAAATAATGCACATGTATTACCTCACGCTTCTGTAGGCGAGAAGTCTAACGCGAGTCTTGCCGCGCTGCAGCCAAGGCGTGGGCAGGACTGTGTTCCTCTGCAGGCACCCGTTGTATCCCTTGCCTGCTCCAGCTTCTGGTGGCCGTCCGCGTCCCTTGGCTCTCGGCCCCTTCCTTCATCTTCAAAGCCTGCAGAGGGGAAGTCGAGTCCTTCTCCTGCCACGTCACTCTGACCATCCCTTCCTGGTCACACCTCCCTTGAACTCTTCGCTTCTGCCCCCTTCGTCCACTTTTAAGGACCCTTGTGATTACACT... | CTACCTAAATAATGCACATGTATTACCTCACGCTTCTGTAGGCGAGAAGTCTAACGCGAGTCTTGCCGCGCTGCAGCCAAGGCGTGGGCAGGACTGTGTTCCTCTGCAGGCACCCGTTGTATCCCTTGCCTGCTCCAGCTTCTGGTGGCCGTCCGCGTCCCTTGGCTCTCGGCCCCTTCCTTCATCTTCAAAGCCTGCAGAGGGGAAGTCGAGTCCTTCTCCTGCCACGTCACTCTGACCATCCCTTCCTGGTCACACCTCCCTTGAACTCTTCGCTTCTGCCCCCTTCGTCCACTTTTAAGGACCCTTGTGATTACACT... | benign | 326,924 |
Does the genetic variant at chromosome 22, position 37765832, impacting gene TRIOBP (TRIO and F-actin binding protein), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TACCTAAATAATGCACATGTATTACCTCACGCTTCTGTAGGCGAGAAGTCTAACGCGAGTCTTGCCGCGCTGCAGCCAAGGCGTGGGCAGGACTGTGTTCCTCTGCAGGCACCCGTTGTATCCCTTGCCTGCTCCAGCTTCTGGTGGCCGTCCGCGTCCCTTGGCTCTCGGCCCCTTCCTTCATCTTCAAAGCCTGCAGAGGGGAAGTCGAGTCCTTCTCCTGCCACGTCACTCTGACCATCCCTTCCTGGTCACACCTCCCTTGAACTCTTCGCTTCTGCCCCCTTCGTCCACTTTTAAGGACCCTTGTGATTACACTG... | TACCTAAATAATGCACATGTATTACCTCACGCTTCTGTAGGCGAGAAGTCTAACGCGAGTCTTGCCGCGCTGCAGCCAAGGCGTGGGCAGGACTGTGTTCCTCTGCAGGCACCCGTTGTATCCCTTGCCTGCTCCAGCTTCTGGTGGCCGTCCGCGTCCCTTGGCTCTCGGCCCCTTCCTTCATCTTCAAAGCCTGCAGAGGGGAAGTCGAGTCCTTCTCCTGCCACGTCACTCTGACCATCCCTTCCTGGTCACACCTCCCTTGAACTCTTCGCTTCTGCCCCCTTCGTCCACTTTTAAGGACCCTTGTGATTACACTG... | benign | 326,925 |
Does the variant impacting SOX10 on chromosome 22, position 37973536, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['PCWH_syndrome', 'Waardenburg_syndrome_type_2E', 'Waardenburg_syndrome_type_4C'] | TGTGAGGTGGAGTGGTCCTGGCCTCTGGGTGCAGTTTGGACTTCTGCTGAGGAAAGAGCTCTTAGGGAGTAGGCGCTTAAGGAGTAGACTGTCTGACATCCTTGGTCTGGACTTGGACATGGGCACCTGCTGTGAAGGCTTGGCTAGATCCTGGCGTGGGCTGCTGTGTGTGTGCTGGGGGAGGTGGCAAGTGGGGGGATGCAGCAACACAGGGCCTATCCACACATCCTGAAGGACAGGCCTCTGACTGCAGGCAGCACGGTGTCACCCTCAGCCCACCTCCTCCTCTTCAGATACCTGTCTCTTGAATTCTTTGCAAA... | TGTGAGGTGGAGTGGTCCTGGCCTCTGGGTGCAGTTTGGACTTCTGCTGAGGAAAGAGCTCTTAGGGAGTAGGCGCTTAAGGAGTAGACTGTCTGACATCCTTGGTCTGGACTTGGACATGGGCACCTGCTGTGAAGGCTTGGCTAGATCCTGGCGTGGGCTGCTGTGTGTGTGCTGGGGGAGGTGGCAAGTGGGGGGATGCAGCAACACAGGGCCTATCCACACATCCTGAAGGACAGGCCTCTGACTGCAGGCAGCACGGTGTCACCCTCAGCCCACCTCCTCCTCTTCAGATACCTGTCTCTTGAATTCTTTGCAAA... | pathogenic | 326,947 |
Variant on chromosome 22, at position 37973788, affecting SOX10: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Waardenburg_syndrome_type_4C'] | GGCAGCACGGTGTCACCCTCAGCCCACCTCCTCCTCTTCAGATACCTGTCTCTTGAATTCTTTGCAAACTCCCGTCTGCTGAGTGCTGGGTGAGCAGAGGGGCTGCTTGCAAGGCAGTGAGTTCTAGCTGAGCCAGTTAAGAGTGAGTGGCCCCCCTGCAGTGTGGGGCATAGCCGCCGGGCTGGGGAGAAGTTCCCATCTGAGGCTTCAGTCCCTGAGCTCAGATGGACCCCACTGGGATGCCAGCTGTCCTAACACTCTCCATTGTTCCCACTTTCTTAGCAGGGAGAGAGACAGAAAGAGAGAGAGGAGAGTGGGAG... | GGCAGCACGGTGTCACCCTCAGCCCACCTCCTCCTCTTCAGATACCTGTCTCTTGAATTCTTTGCAAACTCCCGTCTGCTGAGTGCTGGGTGAGCAGAGGGGCTGCTTGCAAGGCAGTGAGTTCTAGCTGAGCCAGTTAAGAGTGAGTGGCCCCCCTGCAGTGTGGGGCATAGCCGCCGGGCTGGGGAGAAGTTCCCATCTGAGGCTTCAGTCCCTGAGCTCAGATGGACCCCACTGGGATGCCAGCTGTCCTAACACTCTCCATTGTTCCCACTTTCTTAGCAGGGAGAGAGACAGAAAGAGAGAGAGGAGAGTGGGAG... | pathogenic | 326,952 |
Clinical significance of chromosome 22, position 37973809, gene SOX10: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Waardenburg_syndrome_type_2E'] | GCCCACCTCCTCCTCTTCAGATACCTGTCTCTTGAATTCTTTGCAAACTCCCGTCTGCTGAGTGCTGGGTGAGCAGAGGGGCTGCTTGCAAGGCAGTGAGTTCTAGCTGAGCCAGTTAAGAGTGAGTGGCCCCCCTGCAGTGTGGGGCATAGCCGCCGGGCTGGGGAGAAGTTCCCATCTGAGGCTTCAGTCCCTGAGCTCAGATGGACCCCACTGGGATGCCAGCTGTCCTAACACTCTCCATTGTTCCCACTTTCTTAGCAGGGAGAGAGACAGAAAGAGAGAGAGGAGAGTGGGAGGGGGGAGAGAGAGAGAAAGGA... | GCCCACCTCCTCCTCTTCAGATACCTGTCTCTTGAATTCTTTGCAAACTCCCGTCTGCTGAGTGCTGGGTGAGCAGAGGGGCTGCTTGCAAGGCAGTGAGTTCTAGCTGAGCCAGTTAAGAGTGAGTGGCCCCCCTGCAGTGTGGGGCATAGCCGCCGGGCTGGGGAGAAGTTCCCATCTGAGGCTTCAGTCCCTGAGCTCAGATGGACCCCACTGGGATGCCAGCTGTCCTAACACTCTCCATTGTTCCCACTTTCTTAGCAGGGAGAGAGACAGAAAGAGAGAGAGGAGAGTGGGAGGGGGGAGAGAGAGAGAAAGGA... | pathogenic | 326,954 |
Variant in SOX10, chromosome 22, position 37983643—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Waardenburg_syndrome_type_4C'] | GGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCT... | GGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCT... | pathogenic | 326,982 |
Variant in SOX10, chromosome 22, position 37983722—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Waardenburg_syndrome_type_2A', 'Waardenburg_syndrome_type_4C'] | CTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCT... | CTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCT... | pathogenic | 326,985 |
A genetic variant on chromosome 22, position 38111973, affects the gene PLA2G6 (phospholipase A2 group VI). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AGGTGAAAGGGTCCTGCACACAGGAGGCGCTCAATAAATGTCTGTGGCGGCTGCAACAACCCCCCGGGGGTGAAGTAGGAAGTCTGAGGGGCTCAGAAATGAGAGAGACAGAGACAGGGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGGGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGACAGAGAGAGAGAGGGAGGGTCTTTCTTTATTCCCAGGCCGGGCAGCCAGGCCCTTCTCATCCAGACTCAACTCTCCCCACCCTGGGCC... | AGGTGAAAGGGTCCTGCACACAGGAGGCGCTCAATAAATGTCTGTGGCGGCTGCAACAACCCCCCGGGGGTGAAGTAGGAAGTCTGAGGGGCTCAGAAATGAGAGAGACAGAGACAGGGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGGGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGACAGAGAGAGAGAGGGAGGGTCTTTCTTTATTCCCAGGCCGGGCAGCCAGGCCCTTCTCATCCAGACTCAACTCTCCCCACCCTGGGCC... | benign | 326,990 |
Mutation found at chromosome 22 position 38112210, gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_Parkinson_disease_14', 'Inborn_genetic_diseases', 'Infantile_neuroaxonal_dystrophy', 'Iron_accumulation_in_brain', 'Neurodegeneration_with_brain_iron_accumulation_2B', 'PLA2G6-associated_neurodegeneration'] | AGAGAGAGGGAGGGTCTTTCTTTATTCCCAGGCCGGGCAGCCAGGCCCTTCTCATCCAGACTCAACTCTCCCCACCCTGGGCCTTGGGCTCCCTCCTGCCTTGTCCAGCATCTGGGAGTTGGGGGTTCCCGCTGTATGGCTGAGTGCTCTCGGGGATCCTTACCCCCGTACCCACCCCTGGCCCAGCCTGGCTCCAGGCTTCCCTTTCCAGGACATCTGTAGCCCCGGCTGGCCCTCCGTCCTCCAGAGCGGGCCTGATTTCTGTGCCCTGGGAGGAGGGGCTCAGGCCTGGCTTGGCCACCCATGTGCTCACCTTGTAG... | AGAGAGAGGGAGGGTCTTTCTTTATTCCCAGGCCGGGCAGCCAGGCCCTTCTCATCCAGACTCAACTCTCCCCACCCTGGGCCTTGGGCTCCCTCCTGCCTTGTCCAGCATCTGGGAGTTGGGGGTTCCCGCTGTATGGCTGAGTGCTCTCGGGGATCCTTACCCCCGTACCCACCCCTGGCCCAGCCTGGCTCCAGGCTTCCCTTTCCAGGACATCTGTAGCCCCGGCTGGCCCTCCGTCCTCCAGAGCGGGCCTGATTTCTGTGCCCTGGGAGGAGGGGCTCAGGCCTGGCTTGGCCACCCATGTGCTCACCTTGTAG... | pathogenic | 326,991 |
Variant at chromosome position 38112253, chromosome 22, gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Infantile_neuroaxonal_dystrophy', 'Iron_accumulation_in_brain'] | GGCCCTTCTCATCCAGACTCAACTCTCCCCACCCTGGGCCTTGGGCTCCCTCCTGCCTTGTCCAGCATCTGGGAGTTGGGGGTTCCCGCTGTATGGCTGAGTGCTCTCGGGGATCCTTACCCCCGTACCCACCCCTGGCCCAGCCTGGCTCCAGGCTTCCCTTTCCAGGACATCTGTAGCCCCGGCTGGCCCTCCGTCCTCCAGAGCGGGCCTGATTTCTGTGCCCTGGGAGGAGGGGCTCAGGCCTGGCTTGGCCACCCATGTGCTCACCTTGTAGATGGCCATGGTGGACCTGTAGAACTGGTCCATCTCGGGGGCCA... | GGCCCTTCTCATCCAGACTCAACTCTCCCCACCCTGGGCCTTGGGCTCCCTCCTGCCTTGTCCAGCATCTGGGAGTTGGGGGTTCCCGCTGTATGGCTGAGTGCTCTCGGGGATCCTTACCCCCGTACCCACCCCTGGCCCAGCCTGGCTCCAGGCTTCCCTTTCCAGGACATCTGTAGCCCCGGCTGGCCCTCCGTCCTCCAGAGCGGGCCTGATTTCTGTGCCCTGGGAGGAGGGGCTCAGGCCTGGCTTGGCCACCCATGTGCTCACCTTGTAGATGGCCATGGTGGACCTGTAGAACTGGTCCATCTCGGGGGCCA... | pathogenic | 326,996 |
Clinical classification of chromosome 22, position 38112294, gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_Parkinson_disease_14', 'Infantile_neuroaxonal_dystrophy', 'Neurodegeneration_with_brain_iron_accumulation_2B'] | TGGGCTCCCTCCTGCCTTGTCCAGCATCTGGGAGTTGGGGGTTCCCGCTGTATGGCTGAGTGCTCTCGGGGATCCTTACCCCCGTACCCACCCCTGGCCCAGCCTGGCTCCAGGCTTCCCTTTCCAGGACATCTGTAGCCCCGGCTGGCCCTCCGTCCTCCAGAGCGGGCCTGATTTCTGTGCCCTGGGAGGAGGGGCTCAGGCCTGGCTTGGCCACCCATGTGCTCACCTTGTAGATGGCCATGGTGGACCTGTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTG... | TGGGCTCCCTCCTGCCTTGTCCAGCATCTGGGAGTTGGGGGTTCCCGCTGTATGGCTGAGTGCTCTCGGGGATCCTTACCCCCGTACCCACCCCTGGCCCAGCCTGGCTCCAGGCTTCCCTTTCCAGGACATCTGTAGCCCCGGCTGGCCCTCCGTCCTCCAGAGCGGGCCTGATTTCTGTGCCCTGGGAGGAGGGGCTCAGGCCTGGCTTGGCCACCCATGTGCTCACCTTGTAGATGGCCATGGTGGACCTGTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTG... | pathogenic | 326,997 |
The chromosome 22, position 38113616 genetic variant in gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Infantile_neuroaxonal_dystrophy', 'Iron_accumulation_in_brain', 'Neurodegeneration_with_brain_iron_accumulation', 'Neurodegeneration_with_brain_iron_accumulation_2B'] | GAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGG... | GAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGG... | pathogenic | 327,010 |
Considering the variant on chromosome 22, location 38116185, involving gene PLA2G6 (phospholipase A2 group VI), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Infantile_neuroaxonal_dystrophy', 'PLA2G6-associated_neurodegeneration'] | AGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGA... | AGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGA... | pathogenic | 327,027 |
For chromosome 22, position 38120826, gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_Parkinson_disease_14', 'Infantile_neuroaxonal_dystrophy', 'Iron_accumulation_in_brain', 'Neurodegeneration_with_brain_iron_accumulation_2B', 'PLA2G6-associated_neurodegeneration'] | GGGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGATGGGATCACAGCCCACTGTAGCCTCAGCCTCCGGGGCTCAAGTGATCCTCCCACCTCAGCCTCTCAATTAGCTGGGACTACAGCCATAGTGCCACCATGCCCAGCTAATTGTTAGTTTTAAATTTTTTGTAGAGATGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCGACCTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGAGCTGGGATTACAGGCTTGAGCCACCATGCCTGGCATATTCCTATTTTTGAGAAGAGGTAGAAACTTCAGGG... | GGGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGATGGGATCACAGCCCACTGTAGCCTCAGCCTCCGGGGCTCAAGTGATCCTCCCACCTCAGCCTCTCAATTAGCTGGGACTACAGCCATAGTGCCACCATGCCCAGCTAATTGTTAGTTTTAAATTTTTTGTAGAGATGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCGACCTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGAGCTGGGATTACAGGCTTGAGCCACCATGCCTGGCATATTCCTATTTTTGAGAAGAGGTAGAAACTTCAGGG... | pathogenic | 327,034 |
The genetic variant at chromosome 22, position 38123137, affecting gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Infantile_neuroaxonal_dystrophy'] | TCCTTCCGGCTGGACATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTA... | TCCTTCCGGCTGGACATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTA... | pathogenic | 327,043 |
Regarding the variant at chromosome 22 and position 38126446, affecting gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Infantile_neuroaxonal_dystrophy', 'Iron_accumulation_in_brain', 'PLA2G6-associated_neurodegeneration'] | CCTGAGTCACATGCTCTCCAGCGCGCCCTGACACGTCTCCCCACATCCTGCCTGTCCTCATTGGCCATGCCCTGGGGGAATGCCTTTGTGGTTGGTTCAGTCTGGAACCTTCCTCTGATCTTCTCATCTTCCCATCTCAGCTTGATGAAGCTGAGAGAAGCCTGCCCTGATGCCATCGAGACCCTCCCTCACAGCCCGCCTGCTGCTCCACCTGCTTCCTGGTGGAGGCTGCTTCCATTCCATTCGCAATCTTTCTTTTACTCTCTCCTGCGCTGACCTGGAAGCTCCACCAGGGCAGAAGCCGCCTCTGCTCTGGGCAG... | CCTGAGTCACATGCTCTCCAGCGCGCCCTGACACGTCTCCCCACATCCTGCCTGTCCTCATTGGCCATGCCCTGGGGGAATGCCTTTGTGGTTGGTTCAGTCTGGAACCTTCCTCTGATCTTCTCATCTTCCCATCTCAGCTTGATGAAGCTGAGAGAAGCCTGCCCTGATGCCATCGAGACCCTCCCTCACAGCCCGCCTGCTGCTCCACCTGCTTCCTGGTGGAGGCTGCTTCCATTCCATTCGCAATCTTTCTTTTACTCTCTCCTGCGCTGACCTGGAAGCTCCACCAGGGCAGAAGCCGCCTCTGCTCTGGGCAG... | pathogenic | 327,053 |
Regarding the variant at chromosome 22 and position 38128354, affecting gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Infantile_neuroaxonal_dystrophy', 'Neurodegeneration_with_brain_iron_accumulation'] | GGGGTGGGTGAGGGGCAGGAAAGCGCACACGTTCCCCGCTCTGCCCCCGATCTCGATCCACTTACGTCCGCTTCTCGTCCCTCATGGAGCCCAGGATGAACGCTGGCTTCCGGGCCCGTGAGATGTGCATGAGATCCTGTAGTTCTGTGAGGCACAGAGCAGGGCATGCTGTGGTCAGGTGGGTCCCCAAGCCCTGCTACCCCAGAGGTCCCTAGATCAAACCTGGGCTGTGCCTCGCCCACGGCCACGCCCTCATCCCCCCACTCCCCCTGTCATCTGTCCCTTCCCCACAGGAAGGACTCTGTCCCAGGAGAAAGCTG... | GGGGTGGGTGAGGGGCAGGAAAGCGCACACGTTCCCCGCTCTGCCCCCGATCTCGATCCACTTACGTCCGCTTCTCGTCCCTCATGGAGCCCAGGATGAACGCTGGCTTCCGGGCCCGTGAGATGTGCATGAGATCCTGTAGTTCTGTGAGGCACAGAGCAGGGCATGCTGTGGTCAGGTGGGTCCCCAAGCCCTGCTACCCCAGAGGTCCCTAGATCAAACCTGGGCTGTGCCTCGCCCACGGCCACGCCCTCATCCCCCCACTCCCCCTGTCATCTGTCCCTTCCCCACAGGAAGGACTCTGTCCCAGGAGAAAGCTG... | pathogenic | 327,062 |
Clinically, how would you classify the variant at chromosome 22, position 38132882, gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_Parkinson_disease_14', 'Inborn_genetic_diseases', 'Infantile_neuroaxonal_dystrophy', 'Neurodegeneration_with_brain_iron_accumulation_2B'] | TCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTG... | TCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTG... | pathogenic | 327,077 |
Determine whether the variant at chromosome 22, position 38135024, in gene PLA2G6 (phospholipase A2 group VI) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_Parkinson_disease_14', 'Infantile_neuroaxonal_dystrophy', 'Neurodegeneration_with_brain_iron_accumulation_2B'] | TTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGC... | TTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGC... | pathogenic | 327,090 |
Gene PLA2G6 (phospholipase A2 group VI) variant at chromosome position 38140023 on chromosome 22: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_Parkinson_disease_14', 'Infantile_neuroaxonal_dystrophy', 'Iron_accumulation_in_brain', 'Neurodegeneration_with_brain_iron_accumulation_2B', 'PLA2G6-associated_neurodegeneration'] | GATCTCCCTGCTCCACTCAAGGTAGGAGCCTCTTCCTTTGTCTTCTGTGCAAAGATCCTCTTATGTGATGGGACGCTGGACCCACCCAGGATGGCCTGTGTGGGGACAGAGGGACCGGTGAGGGCTGAGGTTGTTTGAAGAGAGAGAAAACTGGTCAATTACAGCTCCTGCCCAGTACAGCTCAGGGTGGCTGGAGACAAGCAAGAGTGGGGCCATGTGCCAGCCCTCTGGGTAGAGAAGAGCATCACCTGGTGTCCACTCAGGTCACAACCTGCAAATGGGGAACCTGACTGCGGGGCTGGGGGTGTTGGTATCTTCTC... | GATCTCCCTGCTCCACTCAAGGTAGGAGCCTCTTCCTTTGTCTTCTGTGCAAAGATCCTCTTATGTGATGGGACGCTGGACCCACCCAGGATGGCCTGTGTGGGGACAGAGGGACCGGTGAGGGCTGAGGTTGTTTGAAGAGAGAGAAAACTGGTCAATTACAGCTCCTGCCCAGTACAGCTCAGGGTGGCTGGAGACAAGCAAGAGTGGGGCCATGTGCCAGCCCTCTGGGTAGAGAAGAGCATCACCTGGTGTCCACTCAGGTCACAACCTGCAAATGGGGAACCTGACTGCGGGGCTGGGGGTGTTGGTATCTTCTC... | pathogenic | 327,096 |
Does the variant on chromosome 22 at location 38143177 affecting gene PLA2G6 (phospholipase A2 group VI) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'Infantile_neuroaxonal_dystrophy'] | GCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAATTAGCCCATGTGGTGGCACGAGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGAGGATCACCTGAGTCCAGGAGGTTGAGGCTGCAGTGAGCCACAATCACACCACTGCACTCCAGCCTGGGCGACAGAGCTAGATGCTGTCTCAAAAAAAAGAAAGTGCTAGGAGGGTTTTACTGTCTCACTTTTGGCTCAGTGCTGTCCCCATGAGGTTCATTACAACCACAGTGTACCCATGTG... | GCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAATTAGCCCATGTGGTGGCACGAGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGAGGATCACCTGAGTCCAGGAGGTTGAGGCTGCAGTGAGCCACAATCACACCACTGCACTCCAGCCTGGGCGACAGAGCTAGATGCTGTCTCAAAAAAAAGAAAGTGCTAGGAGGGTTTTACTGTCTCACTTTTGGCTCAGTGCTGTCCCCATGAGGTTCATTACAACCACAGTGTACCCATGTG... | pathogenic | 327,105 |
Clinical classification of chromosome 22, position 38143276, gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Infantile_neuroaxonal_dystrophy'] | AGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGAGGATCACCTGAGTCCAGGAGGTTGAGGCTGCAGTGAGCCACAATCACACCACTGCACTCCAGCCTGGGCGACAGAGCTAGATGCTGTCTCAAAAAAAAGAAAGTGCTAGGAGGGTTTTACTGTCTCACTTTTGGCTCAGTGCTGTCCCCATGAGGTTCATTACAACCACAGTGTACCCATGTGACACCAGGGTCACCTCACAGCAGTCCCACTGGACCTGAAGGCAGGCCAGAGACACAGCAGGAAGAGCAAAGGGCTGGCATCGAGGCCAATGTAAGGTCA... | AGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGAGGATCACCTGAGTCCAGGAGGTTGAGGCTGCAGTGAGCCACAATCACACCACTGCACTCCAGCCTGGGCGACAGAGCTAGATGCTGTCTCAAAAAAAAGAAAGTGCTAGGAGGGTTTTACTGTCTCACTTTTGGCTCAGTGCTGTCCCCATGAGGTTCATTACAACCACAGTGTACCCATGTGACACCAGGGTCACCTCACAGCAGTCCCACTGGACCTGAAGGCAGGCCAGAGACACAGCAGGAAGAGCAAAGGGCTGGCATCGAGGCCAATGTAAGGTCA... | pathogenic | 327,107 |
Does the variant on chromosome 22 at location 38145543 affecting gene PLA2G6 (phospholipase A2 group VI) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_Parkinson_disease_14', 'Infantile_neuroaxonal_dystrophy', 'Neurodegeneration_with_brain_iron_accumulation_2B', 'PLA2G6-associated_neurodegeneration'] | GCTCACTCGTACAAGAGATGGGCCCCAGGGCCACACCAGCAGGAAGTGGGCAGGGTGGTGGCACAGGAAAGGGTCACAGAACACGGATATCTCACTAGCCTCAGGCAATTCACTTAACCTTTCTGGGCGTCAATATCCTTATCGACACAAGCTGCTGTGCCTGCCCCAGGAAATGGACAGAGTGATGGTGAGATGAGACAGTGCTGTCCAAAAGCACGCCTGGAAACTAAAGTGCAGTGAGGGTTTTTGTTTTGTTTTGTTTTTTTGAGGTGGAGTTTCACTCTTGTTGCCCAGGCTGTAATGCAGTGACACAATCTCGG... | GCTCACTCGTACAAGAGATGGGCCCCAGGGCCACACCAGCAGGAAGTGGGCAGGGTGGTGGCACAGGAAAGGGTCACAGAACACGGATATCTCACTAGCCTCAGGCAATTCACTTAACCTTTCTGGGCGTCAATATCCTTATCGACACAAGCTGCTGTGCCTGCCCCAGGAAATGGACAGAGTGATGGTGAGATGAGACAGTGCTGTCCAAAAGCACGCCTGGAAACTAAAGTGCAGTGAGGGTTTTTGTTTTGTTTTGTTTTTTTGAGGTGGAGTTTCACTCTTGTTGCCCAGGCTGTAATGCAGTGACACAATCTCGG... | pathogenic | 327,111 |
Variant in gene PLA2G6 (phospholipase A2 group VI), located at chromosome 22 position 38169229: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Infantile_neuroaxonal_dystrophy'] | TCGCGTCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAACAAAAAATCCTGTAAACTATAAAGTACCACAGAATAGCTTACGTGTAGCTAAGAAGCTGCTGACAAAGGACTAAATCCTCCTGGGATGGAGGTCTGCCCACACTGGGGCTTAAGCTGGCTGAGACAAATCTGGAATCCTGTCAAGGGATTTTACAACTGACAGAACTTGGTGATTATTGGTACGTGGAGATTAGTGGTATCCCCAGGGCCGTGTACCTCAAAAGTGGGGCTGTCCAGCTCTCCAAGGAGTGG... | TCGCGTCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAACAAAAAATCCTGTAAACTATAAAGTACCACAGAATAGCTTACGTGTAGCTAAGAAGCTGCTGACAAAGGACTAAATCCTCCTGGGATGGAGGTCTGCCCACACTGGGGCTTAAGCTGGCTGAGACAAATCTGGAATCCTGTCAAGGGATTTTACAACTGACAGAACTTGGTGATTATTGGTACGTGGAGATTAGTGGTATCCCCAGGGCCGTGTACCTCAAAAGTGGGGCTGTCCAGCTCTCCAAGGAGTGG... | pathogenic | 327,120 |
For chromosome 22, position 40301172, gene TNRC6B (trinucleotide repeat containing adaptor 6B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAACAAAAAAAAAAAAAAAACAAAACTGGGGAGGCAGGCAGAGCTGGGATTACAAACCCAGGCAGTCTGCCTCTAGAACTAAAGTCTTTTTTTTTTTTTTTTGAGATGGAATTTCACTCTTGTTGCCCATGCTGGAGTGCAATGGCACCATCTTGGCTCACCACAACCTCCGCCTCCCAGCTTGAGGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTGCATGTT... | GACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAACAAAAAAAAAAAAAAAACAAAACTGGGGAGGCAGGCAGAGCTGGGATTACAAACCCAGGCAGTCTGCCTCTAGAACTAAAGTCTTTTTTTTTTTTTTTTGAGATGGAATTTCACTCTTGTTGCCCATGCTGGAGTGCAATGGCACCATCTTGGCTCACCACAACCTCCGCCTCCCAGCTTGAGGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTGCATGTT... | benign | 327,249 |
Clinically, how would you classify the variant at chromosome 22, position 40358822, gene ADSL (adenylosuccinate lyase): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TTGAGGCTACAGTGAGCTGTGATTATACCAGCGTGTGCCAGCCTGGGGTGACAGAGTGAGACCCTGTCTCAAAAAAGAAAGAAATTGGACATTAGGGCAACTTATTCATAATTATATATTTTGTTTTTTTGTTTTGTTTTGAGACAGAGTCTCACTCTGTCACCTAGATTGGGGTACAGTGGTGTGATCTCAGCTCACTGCAGCCTCAGCTTCCCGGATTCAAGTGATTCTCCCACCTCAGCCTCCCAAGTACCTGGGATTACAGGTGTGCACCACCACACTTGGCCAGTTTTTGTATTTTTTGTAGAAACAGGGTTTTA... | TTGAGGCTACAGTGAGCTGTGATTATACCAGCGTGTGCCAGCCTGGGGTGACAGAGTGAGACCCTGTCTCAAAAAAGAAAGAAATTGGACATTAGGGCAACTTATTCATAATTATATATTTTGTTTTTTTGTTTTGTTTTGAGACAGAGTCTCACTCTGTCACCTAGATTGGGGTACAGTGGTGTGATCTCAGCTCACTGCAGCCTCAGCTTCCCGGATTCAAGTGATTCTCCCACCTCAGCCTCCCAAGTACCTGGGATTACAGGTGTGCACCACCACACTTGGCCAGTTTTTGTATTTTTTGTAGAAACAGGGTTTTA... | benign | 327,275 |
Is the genetic mutation found on chromosome 22 at position 40361286, within the gene ADSL (adenylosuccinate lyase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Adenylosuccinate_lyase_deficiency'] | GGATGTGTCTTTTCTTTCCAAGGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGATTTAAGAGGTAGGTAAATGGGAATGTGTTGGCCTCCCTGTTAAGTTGATGGAAGTCCTATATTCAGTATACCTGCAGATTTGACCTTACAATTTTTGCCTTTTTCTTCCTTTGTTCTTCTACCCATTTTTTTTTTTCCTGTCTCTATCCTGGGTTTTACTTTCTTACTATCTGGATTCTTTTTTTTTTTTTTTTTTTTTCGCCTAATCGTCTTGCTGACATATTTTCTGGATTTCATTTTATTTTATTATTGTTTTTGA... | GGATGTGTCTTTTCTTTCCAAGGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGATTTAAGAGGTAGGTAAATGGGAATGTGTTGGCCTCCCTGTTAAGTTGATGGAAGTCCTATATTCAGTATACCTGCAGATTTGACCTTACAATTTTTGCCTTTTTCTTCCTTTGTTCTTCTACCCATTTTTTTTTTTCCTGTCTCTATCCTGGGTTTTACTTTCTTACTATCTGGATTCTTTTTTTTTTTTTTTTTTTTTCGCCTAATCGTCTTGCTGACATATTTTCTGGATTTCATTTTATTTTATTATTGTTTTTGA... | pathogenic | 327,288 |
Is the genetic variant on chromosome 22, position 40365024, gene ADSL (adenylosuccinate lyase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Adenylosuccinate_lyase_deficiency'] | TCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAG... | TCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAG... | pathogenic | 327,316 |
Is chromosome 22, position 40365062, gene ADSL (adenylosuccinate lyase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCAGAGT... | AGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCAGAGT... | benign | 327,318 |
A genetic alteration at chromosome 22, position 40418743, in gene MRTFA (myocardin related transcription factor A)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TGTTGTCCACCTCCCCAGGCTGCACTGTGAGCTCCACAAGGGCAAATGTCTCTTCTGTTCGTTGGGAGGCGAGGGCCTTGGGGCAGTGCTTCCAGCTGAAGGACGGCACCTTCCCTGGTCCTCTCGCCCAGGCCTTGGAGACGGGAGGGCTCACAGCCACCACTGCATCCACAGTGCTTGCCCAAGACTGGTCACGCACGGAAGCATTCAATAAAAACAAACCAACCCAGGGCTAGAGACACCTATGAACAGAGAAGGCCGTCAGGGAGGCAGCAGGGGACCTGGGGTTACCTCCGCTCTGAATGAGAATGTCAAACAGG... | TGTTGTCCACCTCCCCAGGCTGCACTGTGAGCTCCACAAGGGCAAATGTCTCTTCTGTTCGTTGGGAGGCGAGGGCCTTGGGGCAGTGCTTCCAGCTGAAGGACGGCACCTTCCCTGGTCCTCTCGCCCAGGCCTTGGAGACGGGAGGGCTCACAGCCACCACTGCATCCACAGTGCTTGCCCAAGACTGGTCACGCACGGAAGCATTCAATAAAAACAAACCAACCCAGGGCTAGAGACACCTATGAACAGAGAAGGCCGTCAGGGAGGCAGCAGGGGACCTGGGGTTACCTCCGCTCTGAATGAGAATGTCAAACAGG... | benign | 327,348 |
Considering the variant on chromosome 22, location 41117193, involving gene EP300 (E1A binding protein p300), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Colorectal_cancer', 'Menke-Hennekam_syndrome_2', 'Neurodevelopmental_delay', 'Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations', 'Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency'] | GGAAAGAAAACTCAAATAATTTTTATAGTAGGTTAATACTGTCAATAGGTCAATCAGGAGTAATTTTCTTCCCCCAGGGGATGTTTGGTGATGTCTGGAGACAGTTTTGATTGTCACAATTGGGATATGGGTGCTACTGGCATAAGTAGAAAGACCAGGAGTCTCCTAATGATAATAGAGGGCACAAGACAATCACCCTCCACCCACAACAAAGAATTATCACATAGCTCAAAATGTTAATAGTGCCAGGGTTGAGAAACCCTGCATTAATCTATACTTAGCACCCAGTTTTGTTTGTTCTTTTTTGAGACAGGATCTTG... | GGAAAGAAAACTCAAATAATTTTTATAGTAGGTTAATACTGTCAATAGGTCAATCAGGAGTAATTTTCTTCCCCCAGGGGATGTTTGGTGATGTCTGGAGACAGTTTTGATTGTCACAATTGGGATATGGGTGCTACTGGCATAAGTAGAAAGACCAGGAGTCTCCTAATGATAATAGAGGGCACAAGACAATCACCCTCCACCCACAACAAAGAATTATCACATAGCTCAAAATGTTAATAGTGCCAGGGTTGAGAAACCCTGCATTAATCTATACTTAGCACCCAGTTTTGTTTGTTCTTTTTTGAGACAGGATCTTG... | pathogenic | 327,400 |
Located at chromosome 22 position 41125844, the variant affecting gene EP300 (E1A binding protein p300)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TTAAAATAATTTGAAAGATTAATGAAAATGCATTTTTATAACTTTCATTATTAGTAAAACGTTTGACTTTAGAATAATGCTGTTTTTCAATTAATTATTATTATAGTATAATGGCTCCAGGTGAACTTAACATAAATATAGAACATAAACTACTTTTTAAAGTACAGAGGGAGCCGGCACAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGGCCAGCCTTGCCAACATGGCGAAACCCCGTCTCGACTGAAAGTAAAAAAATTAGCTGAGTATGGCGG... | TTAAAATAATTTGAAAGATTAATGAAAATGCATTTTTATAACTTTCATTATTAGTAAAACGTTTGACTTTAGAATAATGCTGTTTTTCAATTAATTATTATTATAGTATAATGGCTCCAGGTGAACTTAACATAAATATAGAACATAAACTACTTTTTAAAGTACAGAGGGAGCCGGCACAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGGCCAGCCTTGCCAACATGGCGAAACCCCGTCTCGACTGAAAGTAAAAAAATTAGCTGAGTATGGCGG... | benign | 327,420 |
Determine if the mutation at chromosome 22, position 41147928 in gene EP300 (E1A binding protein p300) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency'] | CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGATATTTTATTTTTTTAAGAATTATTTCTGTTTTTGTATTTAAGAGGTACATGATATGTAGTGTGGTATAATATGCATATTATTTAAAATCAATGTTCACAGTTTATGTGCATAAAAACGTTGTGCTACATGATCAAATTCGGCCACCATTAGACATGATTCATAGCTATTATCCATGGAGATACTCTGTTGCATGCCAACCAGACTCAGACTTTGTTAAACAATAACATATTAAATGCTATGATGGCCTCAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTC... | CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGATATTTTATTTTTTTAAGAATTATTTCTGTTTTTGTATTTAAGAGGTACATGATATGTAGTGTGGTATAATATGCATATTATTTAAAATCAATGTTCACAGTTTATGTGCATAAAAACGTTGTGCTACATGATCAAATTCGGCCACCATTAGACATGATTCATAGCTATTATCCATGGAGATACTCTGTTGCATGCCAACCAGACTCAGACTTTGTTAAACAATAACATATTAAATGCTATGATGGCCTCAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTC... | pathogenic | 327,466 |
Variant in EP300 (E1A binding protein p300), chromosome 22, position 41149128—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency'] | GTACCACCTGAGGTCAAAGTACGAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGTTGTAGTGGCACGGGCCTGTAATCCCATTTACTCTGGAGGCTGAGGCTGGAGAATCACTTGAACCCAGGAGGCGGAGTTTGCAGTGAGGCGAGATCGCGCCACTGGACCCCAGCCTGAGTGACAGCAAGACTTCGTCTCAAAAAAAAAAAAAAAAGCAGATTGTAAAATTTGTAAAATTCAGTTTGGAGATCCTGTTAGTTGATAATGTCTGTTTACTGCTACTGTGAATGAGAC... | GTACCACCTGAGGTCAAAGTACGAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGTTGTAGTGGCACGGGCCTGTAATCCCATTTACTCTGGAGGCTGAGGCTGGAGAATCACTTGAACCCAGGAGGCGGAGTTTGCAGTGAGGCGAGATCGCGCCACTGGACCCCAGCCTGAGTGACAGCAAGACTTCGTCTCAAAAAAAAAAAAAAAAGCAGATTGTAAAATTTGTAAAATTCAGTTTGGAGATCCTGTTAGTTGATAATGTCTGTTTACTGCTACTGTGAATGAGAC... | pathogenic | 327,473 |
Gene EP300 variant at chromosome position 41152199 on chromosome 22: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GTTCCTACCCCAACAGCACCGCTGCTTCCTCCGCAGCCTGCAACTCCAGTAAGTAGAGATTTGGATTTAGGCAGAATCATTAGAGCTATACTGTAGTATTATATTACTTCTGGGCCATTTCCATTCTCTTTTGCTTTATCTCTTACTGTTTTCTCCACAAGTAGAATGTAATCTATTTTTCATTAGGGACTTTTGTATCCTGTTTTGCCTTCCTGTGATAGTACCTATCGTAGCAGGAGCATAAAGATTTTATTTAGCTCTGACTTTGACCATTATGTTTCATGTTGTACCCTGAGGTCTGAAGGTACGTAAAGGGGTAC... | GTTCCTACCCCAACAGCACCGCTGCTTCCTCCGCAGCCTGCAACTCCAGTAAGTAGAGATTTGGATTTAGGCAGAATCATTAGAGCTATACTGTAGTATTATATTACTTCTGGGCCATTTCCATTCTCTTTTGCTTTATCTCTTACTGTTTTCTCCACAAGTAGAATGTAATCTATTTTTCATTAGGGACTTTTGTATCCTGTTTTGCCTTCCTGTGATAGTACCTATCGTAGCAGGAGCATAAAGATTTTATTTAGCTCTGACTTTGACCATTATGTTTCATGTTGTACCCTGAGGTCTGAAGGTACGTAAAGGGGTAC... | benign | 327,501 |
Evaluate the clinical significance of the mutation at chromosome 22, position 41154980 in gene EP300 (E1A binding protein p300): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ATTTTTAGTAGAGACAGGATTTCACCGTGTTGGCCAGGATGGTCTCGATCTCTTGACCTGGTGATCCACCCGCTTCGAGCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACACCCGGCCTCATTTAATAATTTCACAACAGCTCTGAGGTTATTGGCCTGAAGCTTAGCAAAGTTAAGTAACTTTCCACAGGTTACTCAGCTGACCCTACTGCCTGGGCCAGGAAGCAGACCCAGGCAGTCTGAGGCAGAGTGCTCAAATCCAGCCATTCCAACAAGTGTTAATTGACTATTTTAGGACTAGAACTTTTGTGGCT... | ATTTTTAGTAGAGACAGGATTTCACCGTGTTGGCCAGGATGGTCTCGATCTCTTGACCTGGTGATCCACCCGCTTCGAGCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACACCCGGCCTCATTTAATAATTTCACAACAGCTCTGAGGTTATTGGCCTGAAGCTTAGCAAAGTTAAGTAACTTTCCACAGGTTACTCAGCTGACCCTACTGCCTGGGCCAGGAAGCAGACCCAGGCAGTCTGAGGCAGAGTGCTCAAATCCAGCCATTCCAACAAGTGTTAATTGACTATTTTAGGACTAGAACTTTTGTGGCT... | benign | 327,506 |
Clinical significance of chromosome 22, position 41162732, gene EP300 (E1A binding protein p300): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency'] | GAGCGTTTCTTTGGGGGATGACCCTTCCCAGCCTCAAACGTAAGTAACTGCATTATTTTGAAAAGTGCTAATTAGTTTGTTGTCCAGTGATTATGCACAGCTTATTTCTAAATGAACTTAAGCTATGCTGTTGAATATGGTAGCCATTAGCCACATGTTGCTATTTAAATGCATATTAATTTAAATAAAAATTGTTTATCACATGGAATACTCACATTTCAACTGTTCAGTAGCTATCTGTGTCTGGTGGCTACCATATTGGTCAACACAGAGAACATATCCATCATAGTAGAAAGCTCTTTGAGACATCAATGAATTAG... | GAGCGTTTCTTTGGGGGATGACCCTTCCCAGCCTCAAACGTAAGTAACTGCATTATTTTGAAAAGTGCTAATTAGTTTGTTGTCCAGTGATTATGCACAGCTTATTTCTAAATGAACTTAAGCTATGCTGTTGAATATGGTAGCCATTAGCCACATGTTGCTATTTAAATGCATATTAATTTAAATAAAAATTGTTTATCACATGGAATACTCACATTTCAACTGTTCAGTAGCTATCTGTGTCTGGTGGCTACCATATTGGTCAACACAGAGAACATATCCATCATAGTAGAAAGCTCTTTGAGACATCAATGAATTAG... | pathogenic | 327,524 |
Clinically, how would you classify the variant at chromosome 22, position 41162752, gene EP300 (E1A binding protein p300): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations', 'Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency'] | ACCCTTCCCAGCCTCAAACGTAAGTAACTGCATTATTTTGAAAAGTGCTAATTAGTTTGTTGTCCAGTGATTATGCACAGCTTATTTCTAAATGAACTTAAGCTATGCTGTTGAATATGGTAGCCATTAGCCACATGTTGCTATTTAAATGCATATTAATTTAAATAAAAATTGTTTATCACATGGAATACTCACATTTCAACTGTTCAGTAGCTATCTGTGTCTGGTGGCTACCATATTGGTCAACACAGAGAACATATCCATCATAGTAGAAAGCTCTTTGAGACATCAATGAATTAGGGAATATGTCAGCAATGGGC... | ACCCTTCCCAGCCTCAAACGTAAGTAACTGCATTATTTTGAAAAGTGCTAATTAGTTTGTTGTCCAGTGATTATGCACAGCTTATTTCTAAATGAACTTAAGCTATGCTGTTGAATATGGTAGCCATTAGCCACATGTTGCTATTTAAATGCATATTAATTTAAATAAAAATTGTTTATCACATGGAATACTCACATTTCAACTGTTCAGTAGCTATCTGTGTCTGGTGGCTACCATATTGGTCAACACAGAGAACATATCCATCATAGTAGAAAGCTCTTTGAGACATCAATGAATTAGGGAATATGTCAGCAATGGGC... | pathogenic | 327,525 |
Located at chromosome 22 position 41176231, the variant affecting gene EP300 (E1A binding protein p300)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GCACTTTGGAGGTTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGCGAACCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACACACCTGTAATCCTTGGGATGCTGGGGTGGGAGGATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGCACTTACAGCCTGGGTGACAGAACGAGACTCTGTTTCAAAAAATAAAAAGATTTAACCTTTCTGAAAGTGAATTAGTAAATAGAATTGGAGAAAAGTTAAACTTCCACATATGGACTTACAACCCCCTT... | GCACTTTGGAGGTTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGCGAACCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACACACCTGTAATCCTTGGGATGCTGGGGTGGGAGGATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGCACTTACAGCCTGGGTGACAGAACGAGACTCTGTTTCAAAAAATAAAAAGATTTAACCTTTCTGAAAGTGAATTAGTAAATAGAATTGGAGAAAAGTTAAACTTCCACATATGGACTTACAACCCCCTT... | benign | 327,555 |
Chromosome 22, position 41178008, gene EP300 (E1A binding protein p300): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency'] | CTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACTTGAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAGCCTCGTCTCTACAAAAAATGCAGAAATTAGCCAGGTGTGGTGGTGTGGGCCTGTGGTCTCAGCTATTCAGGAGGCCATGGTGGGATAATTGCTTGAGCCCAGGAGGCAGAGGTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGATGACAGAGCGAGGCCCTGTCTCAAAAAAAAGAGACTGTCTGTTTTTCAGGTCTTCTTTGTGATCCGCCTCATTGCTGGCCCT... | CTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACTTGAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAGCCTCGTCTCTACAAAAAATGCAGAAATTAGCCAGGTGTGGTGGTGTGGGCCTGTGGTCTCAGCTATTCAGGAGGCCATGGTGGGATAATTGCTTGAGCCCAGGAGGCAGAGGTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGATGACAGAGCGAGGCCCTGTCTCAAAAAAAAGAGACTGTCTGTTTTTCAGGTCTTCTTTGTGATCCGCCTCATTGCTGGCCCT... | pathogenic | 327,587 |
A genetic variant at chromosome 22, position 41178506, affecting gene EP300 (E1A binding protein p300)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | ACCGCTTTGTCTACACCTGCAATGAATGCAAGCACCATGTGGAGACACGCTGGCACTGTACTGTCTGTGAGGTAGGCACCGGGTTGTGGGAAGGAGGAGGTGAGCTCCGCAGGGTTGTTCTGAGGGGCCATGCAGCCACGTATTTTATAGAGGCCTGTGGGATGCTAGGGGCTTGGCCTCGTGTTTGAGGGGCAGAGCTGAAGAGGCTAGTTTTTGTTCTACGAAAGGGGCTTTTCTAGCCCAAACAATATCTAAAATACTTTTGAATGACTTAAATCTTGGAGAGTTTACGTGCACCTCCTGTTTTTTCCCTAGGATTA... | ACCGCTTTGTCTACACCTGCAATGAATGCAAGCACCATGTGGAGACACGCTGGCACTGTACTGTCTGTGAGGTAGGCACCGGGTTGTGGGAAGGAGGAGGTGAGCTCCGCAGGGTTGTTCTGAGGGGCCATGCAGCCACGTATTTTATAGAGGCCTGTGGGATGCTAGGGGCTTGGCCTCGTGTTTGAGGGGCAGAGCTGAAGAGGCTAGTTTTTGTTCTACGAAAGGGGCTTTTCTAGCCCAAACAATATCTAAAATACTTTTGAATGACTTAAATCTTGGAGAGTTTACGTGCACCTCCTGTTTTTTCCCTAGGATTA... | benign | 327,606 |
A genetic alteration at chromosome 22, position 41178674, in gene EP300 (E1A binding protein p300)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic | GGGCTTGGCCTCGTGTTTGAGGGGCAGAGCTGAAGAGGCTAGTTTTTGTTCTACGAAAGGGGCTTTTCTAGCCCAAACAATATCTAAAATACTTTTGAATGACTTAAATCTTGGAGAGTTTACGTGCACCTCCTGTTTTTTCCCTAGGATTATGACTTGTGTATCACCTGCTATAACACTAAAAACCATGACCACAAAATGGAGAAACTAGGCCTTGGCTTAGATGATGAGAGCAACAACCAGCAGGCTGCAGCCACCCAGAGCCCAGGCGATTCTCGCCGCCTGAGTATCCAGCGCTGCATCCAGTCTCTGGTCCATGC... | GGGCTTGGCCTCGTGTTTGAGGGGCAGAGCTGAAGAGGCTAGTTTTTGTTCTACGAAAGGGGCTTTTCTAGCCCAAACAATATCTAAAATACTTTTGAATGACTTAAATCTTGGAGAGTTTACGTGCACCTCCTGTTTTTTCCCTAGGATTATGACTTGTGTATCACCTGCTATAACACTAAAAACCATGACCACAAAATGGAGAAACTAGGCCTTGGCTTAGATGATGAGAGCAACAACCAGCAGGCTGCAGCCACCCAGAGCCCAGGCGATTCTCGCCGCCTGAGTATCCAGCGCTGCATCCAGTCTCTGGTCCATGC... | pathogenic | 327,614 |
For chromosome 22, position 41178965, gene EP300 (E1A binding protein p300): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CAGCGCTGCATCCAGTCTCTGGTCCATGCTTGCCAGTGTCGGAATGCCAATTGCTCACTGCCATCCTGCCAGAAGATGAAGCGGGTTGTGCAGCATACCAAGGGTTGCAAACGGAAAACCAATGGCGGGTGCCCCATCTGCAAGCAGCTCATTGCCCTCTGCTGCTACCATGCCAAGCACTGCCAGGAGAACAAATGCCCGGTGCCGTTCTGCCTAAACATCAAGCAGAAGCTCCGGCAGCAACAGCTGCAGCACCGACTACAGCAGGCCCAAATGCTTCGCAGGAGGATGGCCAGCATGCAGCGGACTGGTGTGGTTGG... | CAGCGCTGCATCCAGTCTCTGGTCCATGCTTGCCAGTGTCGGAATGCCAATTGCTCACTGCCATCCTGCCAGAAGATGAAGCGGGTTGTGCAGCATACCAAGGGTTGCAAACGGAAAACCAATGGCGGGTGCCCCATCTGCAAGCAGCTCATTGCCCTCTGCTGCTACCATGCCAAGCACTGCCAGGAGAACAAATGCCCGGTGCCGTTCTGCCTAAACATCAAGCAGAAGCTCCGGCAGCAACAGCTGCAGCACCGACTACAGCAGGCCCAAATGCTTCGCAGGAGGATGGCCAGCATGCAGCGGACTGGTGTGGTTGG... | benign | 327,626 |
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