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 |
|---|---|---|---|---|---|
Considering the variant on chromosome 6, location 35456016, involving gene FANCE (FA complementation group E), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Fanconi_anemia_complementation_group_E'] | GTTAAAATTTCCTGGAGTAGGGTCTTCCCTATCTCTCTACCCCCAAATATCCTCCCCACCACAAATTAGCCATCTTTTAAACTTAGGTTTTTTTTGTTTGTTTTGTTTTTTTTTTTGACGGAATCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCACCTCCAGAAGAAGCAATTCTTCTGCCCCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGTGCCAACACGCCCAGCTAATTTTTGTATTTTTAGCAGAGATAGAGTTTCACCATATTGGCTGGGCTGGTCTGGAACTC... | GTTAAAATTTCCTGGAGTAGGGTCTTCCCTATCTCTCTACCCCCAAATATCCTCCCCACCACAAATTAGCCATCTTTTAAACTTAGGTTTTTTTTGTTTGTTTTGTTTTTTTTTTTGACGGAATCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCACCTCCAGAAGAAGCAATTCTTCTGCCCCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGTGCCAACACGCCCAGCTAATTTTTGTATTTTTAGCAGAGATAGAGTTTCACCATATTGGCTGGGCTGGTCTGGAACTC... | pathogenic | 107,422 |
Evaluate if the mutation on chromosome 6 at position 35456035 in FANCE (FA complementation group E) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Fanconi_anemia_complementation_group_E'] | GGGTCTTCCCTATCTCTCTACCCCCAAATATCCTCCCCACCACAAATTAGCCATCTTTTAAACTTAGGTTTTTTTTGTTTGTTTTGTTTTTTTTTTTGACGGAATCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCACCTCCAGAAGAAGCAATTCTTCTGCCCCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGTGCCAACACGCCCAGCTAATTTTTGTATTTTTAGCAGAGATAGAGTTTCACCATATTGGCTGGGCTGGTCTGGAACTCCTGATCCACCCACCTCGTG... | GGGTCTTCCCTATCTCTCTACCCCCAAATATCCTCCCCACCACAAATTAGCCATCTTTTAAACTTAGGTTTTTTTTGTTTGTTTTGTTTTTTTTTTTGACGGAATCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCACCTCCAGAAGAAGCAATTCTTCTGCCCCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGTGCCAACACGCCCAGCTAATTTTTGTATTTTTAGCAGAGATAGAGTTTCACCATATTGGCTGGGCTGGTCTGGAACTCCTGATCCACCCACCTCGTG... | pathogenic | 107,424 |
Variant chromosome 6, position 35456132, gene FANCE (FA complementation group E): benign or pathogenic? Disease(s)? | pathogenic; ['Fanconi_anemia_complementation_group_E'] | GACGGAATCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCACCTCCAGAAGAAGCAATTCTTCTGCCCCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGTGCCAACACGCCCAGCTAATTTTTGTATTTTTAGCAGAGATAGAGTTTCACCATATTGGCTGGGCTGGTCTGGAACTCCTGATCCACCCACCTCGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCAGCCCATCTTTTAAACTTTGACTCTAGTTTTTCTCTCTCA... | GACGGAATCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCACCTCCAGAAGAAGCAATTCTTCTGCCCCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGTGCCAACACGCCCAGCTAATTTTTGTATTTTTAGCAGAGATAGAGTTTCACCATATTGGCTGGGCTGGTCTGGAACTCCTGATCCACCCACCTCGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCAGCCCATCTTTTAAACTTTGACTCTAGTTTTTCTCTCTCA... | pathogenic | 107,427 |
Considering the variant on chromosome 6, location 35456230, involving gene FANCE (FA complementation group E), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CTCCTGAGTAGCTGGGACTACAGGCGCGTGCCAACACGCCCAGCTAATTTTTGTATTTTTAGCAGAGATAGAGTTTCACCATATTGGCTGGGCTGGTCTGGAACTCCTGATCCACCCACCTCGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCAGCCCATCTTTTAAACTTTGACTCTAGTTTTTCTCTCTCACATAGTGTCTATATTCCACAAAGAAATAGTTGTCTTTTTTTTTCTGCCTCACATCCCAAGTGCCTCTGTGTTGACAAACGGCCCTGCAAAATTATGCA... | CTCCTGAGTAGCTGGGACTACAGGCGCGTGCCAACACGCCCAGCTAATTTTTGTATTTTTAGCAGAGATAGAGTTTCACCATATTGGCTGGGCTGGTCTGGAACTCCTGATCCACCCACCTCGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCAGCCCATCTTTTAAACTTTGACTCTAGTTTTTCTCTCTCACATAGTGTCTATATTCCACAAAGAAATAGTTGTCTTTTTTTTTCTGCCTCACATCCCAAGTGCCTCTGTGTTGACAAACGGCCCTGCAAAATTATGCA... | benign | 107,429 |
Clinical significance of chromosome 6, position 35456266, gene FANCE (FA complementation group E): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia_complementation_group_E'] | CGCCCAGCTAATTTTTGTATTTTTAGCAGAGATAGAGTTTCACCATATTGGCTGGGCTGGTCTGGAACTCCTGATCCACCCACCTCGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCAGCCCATCTTTTAAACTTTGACTCTAGTTTTTCTCTCTCACATAGTGTCTATATTCCACAAAGAAATAGTTGTCTTTTTTTTTCTGCCTCACATCCCAAGTGCCTCTGTGTTGACAAACGGCCCTGCAAAATTATGCATAGGGAGGAGTAGAGACGTGAGGGGTGGTGGGCTAG... | CGCCCAGCTAATTTTTGTATTTTTAGCAGAGATAGAGTTTCACCATATTGGCTGGGCTGGTCTGGAACTCCTGATCCACCCACCTCGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCAGCCCATCTTTTAAACTTTGACTCTAGTTTTTCTCTCTCACATAGTGTCTATATTCCACAAAGAAATAGTTGTCTTTTTTTTTCTGCCTCACATCCCAAGTGCCTCTGTGTTGACAAACGGCCCTGCAAAATTATGCATAGGGAGGAGTAGAGACGTGAGGGGTGGTGGGCTAG... | pathogenic | 107,430 |
The genetic variant at chromosome 6, position 35457937, affecting gene FANCE (FA complementation group E): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Fanconi_anemia_complementation_group_E', 'likely other unspecified diseases'] | GCCTGGCTCCGTGCCCTGGGGGAATTGCTGCGAAGGGATTTGGGGGTGGGGACCTCCATGGAGGGAGCTTCTCCACTGTCTGAAAGATGCCAGAGACAGCTCCAAAGTCTATGTAGGGGGCTGGGCCTGGGGGGCAGGAGGTTGAAATCCCCCCAGGCTCCAGACCCTGAAGAAGAGGAGAACAGGGACTCCCAGCAGCCTGGGAAACGCAGAAAGGACTCAGAGGAAGAGGCTGCCAGTCCTGAGGGGAAGAGGGTCCCCAAAAGATTACGGTGTTGGGAAGAGGAAGAAGATCATGAGAAGGAGAGACCCGAACATAA... | GCCTGGCTCCGTGCCCTGGGGGAATTGCTGCGAAGGGATTTGGGGGTGGGGACCTCCATGGAGGGAGCTTCTCCACTGTCTGAAAGATGCCAGAGACAGCTCCAAAGTCTATGTAGGGGGCTGGGCCTGGGGGGCAGGAGGTTGAAATCCCCCCAGGCTCCAGACCCTGAAGAAGAGGAGAACAGGGACTCCCAGCAGCCTGGGAAACGCAGAAAGGACTCAGAGGAAGAGGCTGCCAGTCCTGAGGGGAAGAGGGTCCCCAAAAGATTACGGTGTTGGGAAGAGGAAGAAGATCATGAGAAGGAGAGACCCGAACATAA... | pathogenic | 107,433 |
Mutation at chromosome 6, position 35458421, within FANCE (FA complementation group E): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Fanconi_anemia_complementation_group_E'] | GGGTTTAGAGTGATCTTTCAGCAGTGGTGGCTTTATCCATGGGGAAGGCTGCTTGGGACACTTTTTCCCAATGGAGTTGACTGTAGTTCCTGGAGGAAGAAGGAGGAAGGTAGGGTTGAGGGAATGTAGCCTCCACTCTACAGACTCTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTTCAATGGCATGATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCAGCTAATTTTGTATTTT... | GGGTTTAGAGTGATCTTTCAGCAGTGGTGGCTTTATCCATGGGGAAGGCTGCTTGGGACACTTTTTCCCAATGGAGTTGACTGTAGTTCCTGGAGGAAGAAGGAGGAAGGTAGGGTTGAGGGAATGTAGCCTCCACTCTACAGACTCTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTTCAATGGCATGATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCAGCTAATTTTGTATTTT... | pathogenic | 107,444 |
Gene FANCE (FA complementation group E) variant at chromosome position 35459355 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Fanconi_anemia_complementation_group_E'] | TTTTTGTAGAGATGGGGTCTCAACTAGTTGTGCAGGCTATCTTGAACTCCTGGGCTCAAGTGATTCTCCATCCTCAGCCTCCCAAAGTGCTGGTGTGAGCCACCGCGCTTGGCCTCTTGACTTTCTTGAATCATCTTTGCCAGCTAGCTCCCACTGACCTGGGGCCTTTTCAGTAGGGGGAGCCAGAACCGGGCTTGGGGTCATGCTGCAGGGGGAGGGACGTAGCAGTGACTGGGCTCTCCTCCACAGGACCAGCTTCCCAGGCTGCAGCAGCTGCTGAAGACCTTGGAGGAGGTGACTGGCCCCACAGTGCTCACCAT... | TTTTTGTAGAGATGGGGTCTCAACTAGTTGTGCAGGCTATCTTGAACTCCTGGGCTCAAGTGATTCTCCATCCTCAGCCTCCCAAAGTGCTGGTGTGAGCCACCGCGCTTGGCCTCTTGACTTTCTTGAATCATCTTTGCCAGCTAGCTCCCACTGACCTGGGGCCTTTTCAGTAGGGGGAGCCAGAACCGGGCTTGGGGTCATGCTGCAGGGGGAGGGACGTAGCAGTGACTGGGCTCTCCTCCACAGGACCAGCTTCCCAGGCTGCAGCAGCTGCTGAAGACCTTGGAGGAGGTGACTGGCCCCACAGTGCTCACCAT... | pathogenic | 107,448 |
Determine if the mutation at chromosome 6, position 35459682 in gene FANCE (FA complementation group E) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi_anemia_complementation_group_E'] | CTTCCATCTTCTACCCAGACCCCAACTATGCCCAAGGAAGGCCCAATGCAGTGATATACAAGCTGGCTGGGGGAGGGGGACTGGAGTAAAGGTCTGAGGACAGTCTCTGAAGGAGCTTTTCTTGAACCAAGTGTAGACTTACCATCTAACCCCAGGTAACTTCCTCTTCTCTGGTAGTGCCTTCCAGGATCTCAGGCCACTCCTTCTGCCACCTGAAGGGGTGGCTTCAGTGACTTGTCACTGAGGGCTCTGCCAGCCCTAACATGAGATTTGTCTCCCCAGGGGTTAGAGGGATTGGAGGATGCCCCCCCAGTTGAGCT... | CTTCCATCTTCTACCCAGACCCCAACTATGCCCAAGGAAGGCCCAATGCAGTGATATACAAGCTGGCTGGGGGAGGGGGACTGGAGTAAAGGTCTGAGGACAGTCTCTGAAGGAGCTTTTCTTGAACCAAGTGTAGACTTACCATCTAACCCCAGGTAACTTCCTCTTCTCTGGTAGTGCCTTCCAGGATCTCAGGCCACTCCTTCTGCCACCTGAAGGGGTGGCTTCAGTGACTTGTCACTGAGGGCTCTGCCAGCCCTAACATGAGATTTGTCTCCCCAGGGGTTAGAGGGATTGGAGGATGCCCCCCCAGTTGAGCT... | pathogenic | 107,454 |
The chromosome 6, position 35459694 genetic variant in gene FANCE (FA complementation group E): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Fanconi_anemia_complementation_group_E'] | ACCCAGACCCCAACTATGCCCAAGGAAGGCCCAATGCAGTGATATACAAGCTGGCTGGGGGAGGGGGACTGGAGTAAAGGTCTGAGGACAGTCTCTGAAGGAGCTTTTCTTGAACCAAGTGTAGACTTACCATCTAACCCCAGGTAACTTCCTCTTCTCTGGTAGTGCCTTCCAGGATCTCAGGCCACTCCTTCTGCCACCTGAAGGGGTGGCTTCAGTGACTTGTCACTGAGGGCTCTGCCAGCCCTAACATGAGATTTGTCTCCCCAGGGGTTAGAGGGATTGGAGGATGCCCCCCCAGTTGAGCTACAGCTTCTTCA... | ACCCAGACCCCAACTATGCCCAAGGAAGGCCCAATGCAGTGATATACAAGCTGGCTGGGGGAGGGGGACTGGAGTAAAGGTCTGAGGACAGTCTCTGAAGGAGCTTTTCTTGAACCAAGTGTAGACTTACCATCTAACCCCAGGTAACTTCCTCTTCTCTGGTAGTGCCTTCCAGGATCTCAGGCCACTCCTTCTGCCACCTGAAGGGGTGGCTTCAGTGACTTGTCACTGAGGGCTCTGCCAGCCCTAACATGAGATTTGTCTCCCCAGGGGTTAGAGGGATTGGAGGATGCCCCCCCAGTTGAGCTACAGCTTCTTCA... | pathogenic | 107,455 |
Variant in FANCE (FA complementation group E), chromosome 6, position 35460597—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Fanconi_anemia_complementation_group_E'] | GGGCTGTTTGGGCAGCCTGGGGCAAGGAAAGGATGCCTGCTTAACTGGCAGGGCATGGACCCCCAGGCCATCTACCCACATGGCATCTAACTTTTTTTTTTTTTTTTGAGAGAGAGTGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGCAGTGGCGTGATCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATCACAGGTGCCTTCCACCATGCCTGGCTAATTTTTGTATTTTTATTTATTTATTTATTTAGAGACGGAGTCTTGCTCTGTCACTCAAGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCGACCTCTGC... | GGGCTGTTTGGGCAGCCTGGGGCAAGGAAAGGATGCCTGCTTAACTGGCAGGGCATGGACCCCCAGGCCATCTACCCACATGGCATCTAACTTTTTTTTTTTTTTTTGAGAGAGAGTGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGCAGTGGCGTGATCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATCACAGGTGCCTTCCACCATGCCTGGCTAATTTTTGTATTTTTATTTATTTATTTATTTAGAGACGGAGTCTTGCTCTGTCACTCAAGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCGACCTCTGC... | pathogenic | 107,458 |
The chromosome 6, position 35466560 genetic variant in gene FANCE (FA complementation group E): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CAGGTGTGAGCCACCGTGCCCGGCCGAGACAGGGTCTTCTTATGTTGCCCAGGCTGGCCTCAAACTCCTAGGCTCAAGCAATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACACCCAGCCTCAGGCGTGGCTCTAAGCCCTTTACATATATGAACTTGCTAGTTTATTCCATGTGTCAGCCCTGTGAGAGATATTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGCTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTC... | CAGGTGTGAGCCACCGTGCCCGGCCGAGACAGGGTCTTCTTATGTTGCCCAGGCTGGCCTCAAACTCCTAGGCTCAAGCAATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACACCCAGCCTCAGGCGTGGCTCTAAGCCCTTTACATATATGAACTTGCTAGTTTATTCCATGTGTCAGCCCTGTGAGAGATATTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGCTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTC... | benign | 107,464 |
Classify the chromosome 6 variant at position 35498434 affecting gene TULP1 (TUB like protein 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Leber_congenital_amaurosis_15', 'Retinitis_pigmentosa_14'] | GCAGCCGCGGCACCGCGCGCAGAAACCGGCCTGGGCGCTGGGAGGCCGGGCCCGAGGCCTGCGTGGAGCTGAGGCCGGGCGGGCTCCGGGAGCGCGCGGGCCGGGAGTCCAAAGGGCGGCGGGGCCCGGGACTGGGCGCCCCGGATATGAGCTCCAGGGTGGCAGGCAGGCCCTCCACACTGTGCGGCCCCCGGATCCCCGCCCCGACCCCCCAAGCACGGACGGCGGGACAGGCGACGGCACAGGGGACACGGTCTCCCCGGCTTCCCCACCTTCCCGGACCAACTCGTCCCCGTCGCGGGGGGGTGGGGAGGGCGGGG... | GCAGCCGCGGCACCGCGCGCAGAAACCGGCCTGGGCGCTGGGAGGCCGGGCCCGAGGCCTGCGTGGAGCTGAGGCCGGGCGGGCTCCGGGAGCGCGCGGGCCGGGAGTCCAAAGGGCGGCGGGGCCCGGGACTGGGCGCCCCGGATATGAGCTCCAGGGTGGCAGGCAGGCCCTCCACACTGTGCGGCCCCCGGATCCCCGCCCCGACCCCCCAAGCACGGACGGCGGGACAGGCGACGGCACAGGGGACACGGTCTCCCCGGCTTCCCCACCTTCCCGGACCAACTCGTCCCCGTCGCGGGGGGGTGGGGAGGGCGGGG... | pathogenic | 107,466 |
Clinical classification of chromosome 6, position 35500087, gene TULP1 (TUB like protein 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Leber_congenital_amaurosis_1', 'Leber_congenital_amaurosis_15', 'Retinitis_pigmentosa_14'] | GGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTTTCCCCCACGCTGACGGGCTCTGGGGGCGCTGAGGGGCTGCTGGGGTCACTCGCAGGCCAGCTTCCCGTCGAAACTGG... | GGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTTTCCCCCACGCTGACGGGCTCTGGGGGCGCTGAGGGGCTGCTGGGGTCACTCGCAGGCCAGCTTCCCGTCGAAACTGG... | pathogenic | 107,472 |
Is the variant located on chromosome 6 at position 35503626, gene TULP1 (TUB like protein 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Leber_congenital_amaurosis_15', 'Retinitis_pigmentosa_14'] | GAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAAT... | GAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAAT... | pathogenic | 107,478 |
A genetic variant at chromosome 6, position 35506100, affecting gene TULP1 (TUB like protein 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Leber_congenital_amaurosis_15', 'Retinitis_pigmentosa_14'] | AAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAA... | AAGCTTGTAATCCCAGCACTTTGGGAGTCAGAGGAGGGAGGATCGCTTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAA... | pathogenic | 107,489 |
A genetic alteration at chromosome 6, position 35506146, in gene TULP1 (TUB like protein 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Leber_congenital_amaurosis', 'Retinitis_pigmentosa'] | TTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTA... | TTGAGTCCAGGAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTA... | pathogenic | 107,491 |
Is the genetic variant on chromosome 6, position 35506156, gene TULP1 (TUB like protein 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic | GAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAG... | GAGTTGGAAACCAGCCTGGGCAACATGGCAGACAACGCTGTCTCTACAAAAAACACCCGCCCTCTGCCCCCCACCTGCCAAATTATCTAGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCATGGCCTTGATCACATCACTGCACTCCAGCCTGGGCGACAGAGTAAGACCCAGTCTCCAAAACAAAACAAAAAAAAGGGCTGAATCTACAAGGAGACTAGGCAGTGTTAAAATCCCAACTCCATCTCTTACTATTACTAG... | pathogenic | 107,492 |
The chromosome 6, position 35509209 genetic variant in gene TULP1 (TUB like protein 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Leber_congenital_amaurosis_15', 'Retinal_dystrophy', 'Retinitis_pigmentosa_14'] | ACTTTGGGAGAAGTTGGCTGCCATGCCATAAGAACACTCAAGCAAAAAAAAAAAAAAAAAAGAACACTCAAGCAGCCTCCAGGAGAGGTCCCTGTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTT... | ACTTTGGGAGAAGTTGGCTGCCATGCCATAAGAACACTCAAGCAAAAAAAAAAAAAAAAAAGAACACTCAAGCAGCCTCCAGGAGAGGTCCCTGTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTT... | pathogenic | 107,494 |
Considering the genetic mutation at chromosome 6, position 35509302, impacting TULP1 (TUB like protein 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | GTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTTGGGGTGATTTGTTACATAGCAATGCATAGTTAACACATGAATGAATATGTAAGCTCACTTTGCTCATTGAGAAACTCCTAAGAACAATTTGGT... | GTAGGAAGGAACTGAGATCTCCAGCTAACACCTACCACAGGGAACTATTTTAGAAGTGGATCCTTCATTTCCAGTGAAGCCTTCAGAGTGACCGAAGCCCCAGCTGACATTTTGACTGCAGCTTCCTCCGAGACCCTGAGCCAGAACTACTCTGCTAAGCCACTCCTAGATTTCTGGCTCTCAGAAATTGAATAAGAAAGTAAATGTTGTTTTAAGATGCTCAGTTTGGGGTGATTTGTTACATAGCAATGCATAGTTAACACATGAATGAATATGTAAGCTCACTTTGCTCATTGAGAAACTCCTAAGAACAATTTGGT... | pathogenic | 107,497 |
Variant chromosome 6, position 35509902, gene TULP1 (TUB like protein 1): benign or pathogenic? Disease(s)? | pathogenic; ['Retinal_dystrophy'] | GCCCAGGCTGGAATGCAGTGGCGTGATCTCAGCTCGCTGCAGCCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCATCCTCCTAAGTAGCTGGGACTACAGGTGCGCATCACCATGCCCCGATAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTCTACTATTCGCCAGGCTGGTTTGAACTCCTGACTTCAAGTGACCCATCTGCCTCCTCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTTTGCCTGGCCATGGCTGTTTTTGTTGAGCACAGGTTTGCAGTGTGTTTGAGGGAGGCTGATGT... | GCCCAGGCTGGAATGCAGTGGCGTGATCTCAGCTCGCTGCAGCCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCATCCTCCTAAGTAGCTGGGACTACAGGTGCGCATCACCATGCCCCGATAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTCTACTATTCGCCAGGCTGGTTTGAACTCCTGACTTCAAGTGACCCATCTGCCTCCTCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTTTGCCTGGCCATGGCTGTTTTTGTTGAGCACAGGTTTGCAGTGTGTTTGAGGGAGGCTGATGT... | pathogenic | 107,503 |
Variant in gene TULP1 (TUB like protein 1), located at chromosome 6 position 35510965: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | GGGGGCGTGGGGACATCTCTGGCTGTCTGATGGTTATGCTCCAGAGGGGAGGCCTCAGAGAGCCCAGATGACATAAGGCCCTTGCATGGCCAGTCCTAGCCTGGTGACCCCACAAACGCCTCCTCTGTTTGCACAAATCTGGTTTCCTTTGTCCTTATATCCTGTCACAAGAGGGGGAGCCAAGGTTCTAACCTCAAGTGGCTCCAAGCCCCCACCCTCTAGGCTCCCAAGTCCAGGCCCCTGCCTCTGCTCCCTGAAGGGACCTCAGCCCCCTGCCCCTCTGGGCCCCAACCTTTTTGCCTTTTCCTTTGGCTTTGCCC... | GGGGGCGTGGGGACATCTCTGGCTGTCTGATGGTTATGCTCCAGAGGGGAGGCCTCAGAGAGCCCAGATGACATAAGGCCCTTGCATGGCCAGTCCTAGCCTGGTGACCCCACAAACGCCTCCTCTGTTTGCACAAATCTGGTTTCCTTTGTCCTTATATCCTGTCACAAGAGGGGGAGCCAAGGTTCTAACCTCAAGTGGCTCCAAGCCCCCACCCTCTAGGCTCCCAAGTCCAGGCCCCTGCCTCTGCTCCCTGAAGGGACCTCAGCCCCCTGCCCCTCTGGGCCCCAACCTTTTTGCCTTTTCCTTTGGCTTTGCCC... | benign | 107,505 |
Determine if the mutation at chromosome 6, position 35512207 in gene TULP1 (TUB like protein 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_14'] | TTCTTGTGCCTCAGCCGCCCAAGTAGCTGGGATTACAGGCGCGCGCCACCACCCCTGGCTAATTTTTGTATTGACTTCTGCTCATTTTGGTTTTTCTTTCCCTGAGGCCAAAAAAGCTCTGGACAAAGACCAGGAGCTTAACAAGCAGTTCCCGAATGAATGAACACCAGGCCTTCTAACCGAGCCTCTGAATCCTGCCTTTTGTCCCATGTCCTCCAGGAAACCTTCTCTGGTCACCACTACAGAGTGTGCTATCTCTGCTTCAGAGGCCCAAGGTCCTAGCTCTAGGCCAGGCTGCTGGTCCCTAACAGGTAATGTGC... | TTCTTGTGCCTCAGCCGCCCAAGTAGCTGGGATTACAGGCGCGCGCCACCACCCCTGGCTAATTTTTGTATTGACTTCTGCTCATTTTGGTTTTTCTTTCCCTGAGGCCAAAAAAGCTCTGGACAAAGACCAGGAGCTTAACAAGCAGTTCCCGAATGAATGAACACCAGGCCTTCTAACCGAGCCTCTGAATCCTGCCTTTTGTCCCATGTCCTCCAGGAAACCTTCTCTGGTCACCACTACAGAGTGTGCTATCTCTGCTTCAGAGGCCCAAGGTCCTAGCTCTAGGCCAGGCTGCTGGTCCCTAACAGGTAATGTGC... | pathogenic | 107,511 |
Is the genetic mutation found on chromosome 6 at position 35512221, within the gene TULP1 (TUB like protein 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Leber_congenital_amaurosis_15', 'Retinitis_pigmentosa_14'] | CCGCCCAAGTAGCTGGGATTACAGGCGCGCGCCACCACCCCTGGCTAATTTTTGTATTGACTTCTGCTCATTTTGGTTTTTCTTTCCCTGAGGCCAAAAAAGCTCTGGACAAAGACCAGGAGCTTAACAAGCAGTTCCCGAATGAATGAACACCAGGCCTTCTAACCGAGCCTCTGAATCCTGCCTTTTGTCCCATGTCCTCCAGGAAACCTTCTCTGGTCACCACTACAGAGTGTGCTATCTCTGCTTCAGAGGCCCAAGGTCCTAGCTCTAGGCCAGGCTGCTGGTCCCTAACAGGTAATGTGCCCAGGCCAGGACAC... | CCGCCCAAGTAGCTGGGATTACAGGCGCGCGCCACCACCCCTGGCTAATTTTTGTATTGACTTCTGCTCATTTTGGTTTTTCTTTCCCTGAGGCCAAAAAAGCTCTGGACAAAGACCAGGAGCTTAACAAGCAGTTCCCGAATGAATGAACACCAGGCCTTCTAACCGAGCCTCTGAATCCTGCCTTTTGTCCCATGTCCTCCAGGAAACCTTCTCTGGTCACCACTACAGAGTGTGCTATCTCTGCTTCAGAGGCCCAAGGTCCTAGCTCTAGGCCAGGCTGCTGGTCCCTAACAGGTAATGTGCCCAGGCCAGGACAC... | pathogenic | 107,512 |
Benign or pathogenic: chromosome 6, position 35805372, gene LHFPL5 variant? Disease(s) if pathogenic? | benign | TGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGGATCGCTTGAACCAGGGAGGCGGAGGTTGCTGTGAGCCAAGATCATGCCATTGCACTCCAGCTTGGGCAACAAGAGTGAAACTCTGTCTCAAGAAAAGTAAAATAAAAATAAAATAAAATAAAATAAAATAAAATTGTACATACATCATCCAATTGTGTAAAGGAGTATGTTCAGAAGGGGGAAACTGCAGAGATTAACAATGGTAATAATAATAATCACCAACATTTTTGAGTACTTTCTCTTTTTTTGTTAAAGCCCAGACTGGAGTGCAGTGGTGTGATCAT... | TGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGGATCGCTTGAACCAGGGAGGCGGAGGTTGCTGTGAGCCAAGATCATGCCATTGCACTCCAGCTTGGGCAACAAGAGTGAAACTCTGTCTCAAGAAAAGTAAAATAAAAATAAAATAAAATAAAATAAAATAAAATTGTACATACATCATCCAATTGTGTAAAGGAGTATGTTCAGAAGGGGGAAACTGCAGAGATTAACAATGGTAATAATAATAATCACCAACATTTTTGAGTACTTTCTCTTTTTTTGTTAAAGCCCAGACTGGAGTGCAGTGGTGTGATCAT... | benign | 107,517 |
Is chromosome 6, position 36270493, gene PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase ) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Lamellar_ichthyosis'] | GAAGGGTTCTCATCCAAAGCCCTTCATCCTGTGAAACAGGTCCCATTACACCCCTTCCCTTCTCTGCAAGGGGCTCTTGCTGCTCCTCGACCAGTGCCTGCCTGCTCCTCCCAGCTGCCTCCAGTCCCGCAGCCCACACCTCCGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTG... | GAAGGGTTCTCATCCAAAGCCCTTCATCCTGTGAAACAGGTCCCATTACACCCCTTCCCTTCTCTGCAAGGGGCTCTTGCTGCTCCTCGACCAGTGCCTGCCTGCTCCTCCCAGCTGCCTCCAGTCCCGCAGCCCACACCTCCGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTG... | pathogenic | 107,526 |
Does the variant on chromosome 6 at location 36291531 affecting gene PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase ) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_10', 'Lamellar_ichthyosis'] | ACCTCACTAAAACCGTAGGGCCTTTCTGCCTCCCAGGAGCACCCTCCCCTGTAGGAGGGTGACAATTACGATGCTGCATTGCTCAGGGAGGTCCCTGCTACACATATGCAGGTGTGATTCTGAAGGTTCGAAAAAAAAAAAGGCTGTCACCATGGCAACCCAGGCTTGCTCAGCCTCTTCATTCCTGAGATCAGTCCAAGCCCCAGGGAAAGAAGGTGGGGTATGGAGTCAGAAAAATCACTGCCTGGCTGCCTGACCTCAGGCAAGACACTTAGCTTTTCTCTGTGTCAGTTTCTGCGTCTGTAAAATGGTGCTGAAGC... | ACCTCACTAAAACCGTAGGGCCTTTCTGCCTCCCAGGAGCACCCTCCCCTGTAGGAGGGTGACAATTACGATGCTGCATTGCTCAGGGAGGTCCCTGCTACACATATGCAGGTGTGATTCTGAAGGTTCGAAAAAAAAAAAGGCTGTCACCATGGCAACCCAGGCTTGCTCAGCCTCTTCATTCCTGAGATCAGTCCAAGCCCCAGGGAAAGAAGGTGGGGTATGGAGTCAGAAAAATCACTGCCTGGCTGCCTGACCTCAGGCAAGACACTTAGCTTTTCTCTGTGTCAGTTTCTGCGTCTGTAAAATGGTGCTGAAGC... | pathogenic | 107,529 |
Considering the genetic mutation at chromosome 6, position 36302380, impacting PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase ): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_10', 'Congenital_ichthyosiform_erythroderma'] | CTACAGGTGCATGCCACTACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATAATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGAGACTTTTCTTATTCTTGATGACCTTGACAGAGTTGACTATCGGTCAGGTATTTTGTAGAACGTCCCTCAGTTGGGGTTTGTCTGATGTTTTTCTCAAGATTAAGCTGGGGTTTTGAGTTCTGGGGAGGAGACCACAGAGGTAAGGTGCTATTCACATCACGTTACCTCATGGGCACGTG... | CTACAGGTGCATGCCACTACCCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATAATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGAGACTTTTCTTATTCTTGATGACCTTGACAGAGTTGACTATCGGTCAGGTATTTTGTAGAACGTCCCTCAGTTGGGGTTTGTCTGATGTTTTTCTCAAGATTAAGCTGGGGTTTTGAGTTCTGGGGAGGAGACCACAGAGGTAAGGTGCTATTCACATCACGTTACCTCATGGGCACGTG... | pathogenic | 107,546 |
Evaluate if the mutation on chromosome 6 at position 38815615 in DNAH8 (dynein axonemal heavy chain 8) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Primary_ciliary_dyskinesia', 'Spermatogenic_failure_46'] | ATTTGCAGCTCTGCATGTGTCCTTCATAACTGGACTCAGGCGTCTGTGCTGCTGTCTGTGCATGAGTGATATTGTTTAACAACGCGGTTTTTGGAAAGCATGGACCAGAAACTTCCTGTTTAATCTTGTGAAAATATAGATAAAGAAGCATATAAAAGTATATGCTGGTGATCTCATCTTGTATCTGTTGCAGGGCTGGGAACAAAGAATGCCTTTAGTAAACATTGTTAAAGGTTATTACTGAGAAAGAACAACATTAAAATAGTAGAAAATGTATATGAGATTACTATTTTACTTCTAAGACTATTGGGTCATTGTAT... | ATTTGCAGCTCTGCATGTGTCCTTCATAACTGGACTCAGGCGTCTGTGCTGCTGTCTGTGCATGAGTGATATTGTTTAACAACGCGGTTTTTGGAAAGCATGGACCAGAAACTTCCTGTTTAATCTTGTGAAAATATAGATAAAGAAGCATATAAAAGTATATGCTGGTGATCTCATCTTGTATCTGTTGCAGGGCTGGGAACAAAGAATGCCTTTAGTAAACATTGTTAAAGGTTATTACTGAGAAAGAACAACATTAAAATAGTAGAAAATGTATATGAGATTACTATTTTACTTCTAAGACTATTGGGTCATTGTAT... | pathogenic | 107,580 |
Classify the chromosome 6 variant at position 38917234 affecting gene DNAH8 as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TCCTCAACTTAACAGGTATTAGCAGAAGTCACAGTAAGCGCTCAGGCTTCAGCCAAAATTAAAAATGAAGTACAGGAGGTAAAGGACAAAGCCCAAAAAATTGTGGATGAAATTGATAGTGAAAAAGTGAAAGCTGAAAGCAAGCTTGAGGCAGCTAAACCTGCACTGGAAGAAGCAGAAGCAGCCCTGAATGTGAGCAGTGCATTGTTACCCCTTCCAACACAAGTCCTAGAAGGCTTCATGTTTCATTACATGAAATTAACTCATCAGAAAACTGAATTGAATTCTTAATGTGATTGATAATCTCTGAGTCTGGAAAC... | TCCTCAACTTAACAGGTATTAGCAGAAGTCACAGTAAGCGCTCAGGCTTCAGCCAAAATTAAAAATGAAGTACAGGAGGTAAAGGACAAAGCCCAAAAAATTGTGGATGAAATTGATAGTGAAAAAGTGAAAGCTGAAAGCAAGCTTGAGGCAGCTAAACCTGCACTGGAAGAAGCAGAAGCAGCCCTGAATGTGAGCAGTGCATTGTTACCCCTTCCAACACAAGTCCTAGAAGGCTTCATGTTTCATTACATGAAATTAACTCATCAGAAAACTGAATTGAATTCTTAATGTGATTGATAATCTCTGAGTCTGGAAAC... | benign | 107,616 |
Variant at chromosome position 38938122, chromosome 6, gene DNAH8: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['DNAH8-related_disorder', 'Primary_ciliary_dyskinesia'] | CGTGGTGGCTCATGCTTCTAATCCCAGCACTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACTCAATCTATTTTTTTTCAAATTGACTCTTTCATTTGGCATTGAAATGCAGTTATTGCAACGGGTTATGACACATGTAATCCATGTCAGAAGAGCTTGGGTACCAAAGGCCCAGCTTACCCTCTACTTGGCTTGACCTCCCACTTTAGATGGGAAAGACAGGTTCTCCTCTGGGCAGCCAAATCATCATGCCACACCTCAATTTGAGGATGTACTCTCTC... | CGTGGTGGCTCATGCTTCTAATCCCAGCACTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACTCAATCTATTTTTTTTCAAATTGACTCTTTCATTTGGCATTGAAATGCAGTTATTGCAACGGGTTATGACACATGTAATCCATGTCAGAAGAGCTTGGGTACCAAAGGCCCAGCTTACCCTCTACTTGGCTTGACCTCCCACTTTAGATGGGAAAGACAGGTTCTCCTCTGGGCAGCCAAATCATCATGCCACACCTCAATTTGAGGATGTACTCTCTC... | pathogenic | 107,628 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 39906758, gene MOCS1 (molybdenum cofactor synthesis 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Combined_molybdoflavoprotein_enzyme_deficiency', 'Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_A'] | CTACCAGGGATGCCTTCACGCCAAGGCTGTTCTCACCAGCTGCCTCAGATGACAAATGAGGCTAATGGACATAATCTACAGTGTCCTTTTTCACTTGCACCTTTTTTATAAGAATATATTGTAATACTAAAAAATATTAAATTCATACCATCCCTACCCAGTCTGCCTTTAAACTTGTGCCTTCTTCCTATGAGGGGATCTGGGGTGGGCTGAGAGTGTGCTGGAGCCAGCTTGTACCAGCTCTGTGAGAACCAATTGTTTACATTTTCAGAAATTTTGCAAGCCATTTGACATACTGGTAGCTTGAAATTATTCAACAT... | CTACCAGGGATGCCTTCACGCCAAGGCTGTTCTCACCAGCTGCCTCAGATGACAAATGAGGCTAATGGACATAATCTACAGTGTCCTTTTTCACTTGCACCTTTTTTATAAGAATATATTGTAATACTAAAAAATATTAAATTCATACCATCCCTACCCAGTCTGCCTTTAAACTTGTGCCTTCTTCCTATGAGGGGATCTGGGGTGGGCTGAGAGTGTGCTGGAGCCAGCTTGTACCAGCTCTGTGAGAACCAATTGTTTACATTTTCAGAAATTTTGCAAGCCATTTGACATACTGGTAGCTTGAAATTATTCAACAT... | pathogenic | 107,658 |
Variant chromosome 6, position 39913352, gene MOCS1 (molybdenum cofactor synthesis 1): benign or pathogenic? Disease(s)? | pathogenic; ['Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_A'] | CCACCATCATCACCCTCCCACAATTGTAAAAGATCCCAAGGCCTTCCAGCTACCTTGATGCCTTCCTCCTCTCCTTCCGCGAACATTACCAAGCTCTCTGAGTCTTCCTTCCCTTCAATTCACACTCTAACATATTTGGAGAACCACTGAATGGCCACCTAATTGGTCTTCCTGCCATCACACCCAGCCTGTGGCTTATAAAACATACATGGGGGATGTCTCCCCTGTTCAGGAACCTTACGCAGCACACTATTGTCCACAGAACACATTCTGAACCAAAGCCCCCTACAATGTAGTCTTCCCATAGCTGACTTTAATCT... | CCACCATCATCACCCTCCCACAATTGTAAAAGATCCCAAGGCCTTCCAGCTACCTTGATGCCTTCCTCCTCTCCTTCCGCGAACATTACCAAGCTCTCTGAGTCTTCCTTCCCTTCAATTCACACTCTAACATATTTGGAGAACCACTGAATGGCCACCTAATTGGTCTTCCTGCCATCACACCCAGCCTGTGGCTTATAAAACATACATGGGGGATGTCTCCCCTGTTCAGGAACCTTACGCAGCACACTATTGTCCACAGAACACATTCTGAACCAAAGCCCCCTACAATGTAGTCTTCCCATAGCTGACTTTAATCT... | pathogenic | 107,674 |
Clinically, how would you classify the variant at chromosome 6, position 39925786, gene MOCS1 (molybdenum cofactor synthesis 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['MOCS1-related_disorder', 'Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_A'] | AGCTGAAGGGAGCTGGCCATGGGGCAGGAGGGAGAAGAGGGCTGTCAGGGGGACCTGGGCCCCTCCTTGGGACTCTCACAGCACCTAGGCTCCCCTTATACAGCAGCTGCTTCCTCCAGTGGGCCACAGGTCCTCAACAGCAGGGCTGGTGCTCATTCATCTTCGTGTGCTCAGCACAGTAGGAGGCATGCAAGAGGGCACTCCAGCGAACAATTACTGAGCTAGAGAGCTGAGGGGCGGGGGGTCCTGTCCAAAGCAGCTGGACGGGGCAGCAATCAAGAACATGGAACCTCATAGCCCCGATTTCATCACCTATAATT... | AGCTGAAGGGAGCTGGCCATGGGGCAGGAGGGAGAAGAGGGCTGTCAGGGGGACCTGGGCCCCTCCTTGGGACTCTCACAGCACCTAGGCTCCCCTTATACAGCAGCTGCTTCCTCCAGTGGGCCACAGGTCCTCAACAGCAGGGCTGGTGCTCATTCATCTTCGTGTGCTCAGCACAGTAGGAGGCATGCAAGAGGGCACTCCAGCGAACAATTACTGAGCTAGAGAGCTGAGGGGCGGGGGGTCCTGTCCAAAGCAGCTGGACGGGGCAGCAATCAAGAACATGGAACCTCATAGCCCCGATTTCATCACCTATAATT... | pathogenic | 107,688 |
Is the chromosome 6, position 39925804 variant in MOCS1 (molybdenum cofactor synthesis 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_A'] | ATGGGGCAGGAGGGAGAAGAGGGCTGTCAGGGGGACCTGGGCCCCTCCTTGGGACTCTCACAGCACCTAGGCTCCCCTTATACAGCAGCTGCTTCCTCCAGTGGGCCACAGGTCCTCAACAGCAGGGCTGGTGCTCATTCATCTTCGTGTGCTCAGCACAGTAGGAGGCATGCAAGAGGGCACTCCAGCGAACAATTACTGAGCTAGAGAGCTGAGGGGCGGGGGGTCCTGTCCAAAGCAGCTGGACGGGGCAGCAATCAAGAACATGGAACCTCATAGCCCCGATTTCATCACCTATAATTACATGAGCAAAGGTCTCT... | ATGGGGCAGGAGGGAGAAGAGGGCTGTCAGGGGGACCTGGGCCCCTCCTTGGGACTCTCACAGCACCTAGGCTCCCCTTATACAGCAGCTGCTTCCTCCAGTGGGCCACAGGTCCTCAACAGCAGGGCTGGTGCTCATTCATCTTCGTGTGCTCAGCACAGTAGGAGGCATGCAAGAGGGCACTCCAGCGAACAATTACTGAGCTAGAGAGCTGAGGGGCGGGGGGTCCTGTCCAAAGCAGCTGGACGGGGCAGCAATCAAGAACATGGAACCTCATAGCCCCGATTTCATCACCTATAATTACATGAGCAAAGGTCTCT... | pathogenic | 107,689 |
Variant on chromosome 6, at position 42178878, affecting GUCA1A: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinal_dystrophy'] | CTATTTATTTACGTAGAGAATTGTCTATGGCTGCTTTCACGTAAAATGACAGAGGGTGTTTGGCTGCAAAGCTGCATATTTACTCTTTGGCTCTTTACAGAAAAAGTTTGCCATTTTCTAATAAAAACTAAAAAGTTTTTAGTGCAAGTGCCAGCCCTTGCACTAAAAAATGGTTGTATCTTTGGGTATTGCACCAGATGTGCAGGGCTGGGGAGTACAGAGTGTGACTGGGGAGTGAAACCTGGGGGACAGGCCATTTGCTTTGCTTACTTCAAATGTTTGTCTGGGCTTGGGTTTGTCTGACAATCACACAGGTGCAC... | CTATTTATTTACGTAGAGAATTGTCTATGGCTGCTTTCACGTAAAATGACAGAGGGTGTTTGGCTGCAAAGCTGCATATTTACTCTTTGGCTCTTTACAGAAAAAGTTTGCCATTTTCTAATAAAAACTAAAAAGTTTTTAGTGCAAGTGCCAGCCCTTGCACTAAAAAATGGTTGTATCTTTGGGTATTGCACCAGATGTGCAGGGCTGGGGAGTACAGAGTGTGACTGGGGAGTGAAACCTGGGGGACAGGCCATTTGCTTTGCTTACTTCAAATGTTTGTCTGGGCTTGGGTTTGTCTGACAATCACACAGGTGCAC... | pathogenic | 107,729 |
Considering the variant on chromosome 6, location 42697810, involving gene PRPH2 (peripherin 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | ATACAAAAATTAGCCGGGCGTGGTGGCAAACGCCTGTAATCCCAGCTAGTAGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATATTTGAAAAAAAAAAAAAAAAAGTAGGCTGGGTCCCTCAGGAGAAAAGGATTTACACCAGCCCAAGGAAAGACTGAAGTTACACACAAGCAAAAACCTGATAGCAGAGACTTCCTGGGCACTGGTAGGTGACCAAAAGGGATGGTCCAGGTTTCTCTCGCAACT... | ATACAAAAATTAGCCGGGCGTGGTGGCAAACGCCTGTAATCCCAGCTAGTAGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATATTTGAAAAAAAAAAAAAAAAAGTAGGCTGGGTCCCTCAGGAGAAAAGGATTTACACCAGCCCAAGGAAAGACTGAAGTTACACACAAGCAAAAACCTGATAGCAGAGACTTCCTGGGCACTGGTAGGTGACCAAAAGGGATGGTCCAGGTTTCTCTCGCAACT... | benign | 107,760 |
Located at chromosome 6 position 42698370, the variant affecting gene PRPH2 (peripherin 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['PRPH2-related_disorder', 'Retinal_dystrophy'] | ACATTAAAATTCCATGTATTCAGCTCTGGTTCAAACTCCAGCAAATGCTGAGATTATTTGGATATAATAATAGTCACTGTTGTAATAGTCACCGTTCTTACAGGTAAGAGATGGCAAGATGGAGAGATGTGATACCCAAGCCATGTTTATAACAACGATTGTTACCAATGCTTCCCTTAGGGTGGGTTTCTTTTCTTTTTTGGCAAATACTAGCGGTAGTAGGGGATTCTGATATATGTTGTTGAATGGGCTTAAACAGTCATTTAACAAAAGTGATTTTCATACAGTATGAATTTTAATTATCTATTGACAGCTGTTAA... | ACATTAAAATTCCATGTATTCAGCTCTGGTTCAAACTCCAGCAAATGCTGAGATTATTTGGATATAATAATAGTCACTGTTGTAATAGTCACCGTTCTTACAGGTAAGAGATGGCAAGATGGAGAGATGTGATACCCAAGCCATGTTTATAACAACGATTGTTACCAATGCTTCCCTTAGGGTGGGTTTCTTTTCTTTTTTGGCAAATACTAGCGGTAGTAGGGGATTCTGATATATGTTGTTGAATGGGCTTAAACAGTCATTTAACAAAAGTGATTTTCATACAGTATGAATTTTAATTATCTATTGACAGCTGTTAA... | pathogenic | 107,768 |
Chromosome 6, position 42698390, gene PRPH2: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Multifocal_pattern_dystrophy_simulating_fundus_flavimaculatus', 'Retinal_dystrophy'] | CAGCTCTGGTTCAAACTCCAGCAAATGCTGAGATTATTTGGATATAATAATAGTCACTGTTGTAATAGTCACCGTTCTTACAGGTAAGAGATGGCAAGATGGAGAGATGTGATACCCAAGCCATGTTTATAACAACGATTGTTACCAATGCTTCCCTTAGGGTGGGTTTCTTTTCTTTTTTGGCAAATACTAGCGGTAGTAGGGGATTCTGATATATGTTGTTGAATGGGCTTAAACAGTCATTTAACAAAAGTGATTTTCATACAGTATGAATTTTAATTATCTATTGACAGCTGTTAACAGCATAGTTACACTTGTGG... | CAGCTCTGGTTCAAACTCCAGCAAATGCTGAGATTATTTGGATATAATAATAGTCACTGTTGTAATAGTCACCGTTCTTACAGGTAAGAGATGGCAAGATGGAGAGATGTGATACCCAAGCCATGTTTATAACAACGATTGTTACCAATGCTTCCCTTAGGGTGGGTTTCTTTTCTTTTTTGGCAAATACTAGCGGTAGTAGGGGATTCTGATATATGTTGTTGAATGGGCTTAAACAGTCATTTAACAAAAGTGATTTTCATACAGTATGAATTTTAATTATCTATTGACAGCTGTTAACAGCATAGTTACACTTGTGG... | pathogenic | 107,770 |
Is the genetic change at chromosome 6, position 42698401, within gene PRPH2 (peripherin 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['PRPH2-related_disorder', 'Retinal_dystrophy', 'Vitelliform_macular_dystrophy_3'] | CAAACTCCAGCAAATGCTGAGATTATTTGGATATAATAATAGTCACTGTTGTAATAGTCACCGTTCTTACAGGTAAGAGATGGCAAGATGGAGAGATGTGATACCCAAGCCATGTTTATAACAACGATTGTTACCAATGCTTCCCTTAGGGTGGGTTTCTTTTCTTTTTTGGCAAATACTAGCGGTAGTAGGGGATTCTGATATATGTTGTTGAATGGGCTTAAACAGTCATTTAACAAAAGTGATTTTCATACAGTATGAATTTTAATTATCTATTGACAGCTGTTAACAGCATAGTTACACTTGTGGGCCTAGAGCAG... | CAAACTCCAGCAAATGCTGAGATTATTTGGATATAATAATAGTCACTGTTGTAATAGTCACCGTTCTTACAGGTAAGAGATGGCAAGATGGAGAGATGTGATACCCAAGCCATGTTTATAACAACGATTGTTACCAATGCTTCCCTTAGGGTGGGTTTCTTTTCTTTTTTGGCAAATACTAGCGGTAGTAGGGGATTCTGATATATGTTGTTGAATGGGCTTAAACAGTCATTTAACAAAAGTGATTTTCATACAGTATGAATTTTAATTATCTATTGACAGCTGTTAACAGCATAGTTACACTTGTGGGCCTAGAGCAG... | pathogenic | 107,771 |
A mutation at chromosome position 42698415 on chromosome 6 in gene PRPH2 (peripherin 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['PRPH2-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa_7'] | TGCTGAGATTATTTGGATATAATAATAGTCACTGTTGTAATAGTCACCGTTCTTACAGGTAAGAGATGGCAAGATGGAGAGATGTGATACCCAAGCCATGTTTATAACAACGATTGTTACCAATGCTTCCCTTAGGGTGGGTTTCTTTTCTTTTTTGGCAAATACTAGCGGTAGTAGGGGATTCTGATATATGTTGTTGAATGGGCTTAAACAGTCATTTAACAAAAGTGATTTTCATACAGTATGAATTTTAATTATCTATTGACAGCTGTTAACAGCATAGTTACACTTGTGGGCCTAGAGCAGCACTTTCACCGTGG... | TGCTGAGATTATTTGGATATAATAATAGTCACTGTTGTAATAGTCACCGTTCTTACAGGTAAGAGATGGCAAGATGGAGAGATGTGATACCCAAGCCATGTTTATAACAACGATTGTTACCAATGCTTCCCTTAGGGTGGGTTTCTTTTCTTTTTTGGCAAATACTAGCGGTAGTAGGGGATTCTGATATATGTTGTTGAATGGGCTTAAACAGTCATTTAACAAAAGTGATTTTCATACAGTATGAATTTTAATTATCTATTGACAGCTGTTAACAGCATAGTTACACTTGTGGGCCTAGAGCAGCACTTTCACCGTGG... | pathogenic | 107,773 |
Is the genetic variant on chromosome 6, position 42698421, gene PRPH2 (peripherin 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Choroidal_dystrophy,_central_areolar_2', 'PRPH2-related_disorder', 'Patterned_macular_dystrophy_1', 'Pigmentary_retinal_dystrophy', 'Retinitis_pigmentosa_7', 'Vitelliform_macular_dystrophy_3'] | GATTATTTGGATATAATAATAGTCACTGTTGTAATAGTCACCGTTCTTACAGGTAAGAGATGGCAAGATGGAGAGATGTGATACCCAAGCCATGTTTATAACAACGATTGTTACCAATGCTTCCCTTAGGGTGGGTTTCTTTTCTTTTTTGGCAAATACTAGCGGTAGTAGGGGATTCTGATATATGTTGTTGAATGGGCTTAAACAGTCATTTAACAAAAGTGATTTTCATACAGTATGAATTTTAATTATCTATTGACAGCTGTTAACAGCATAGTTACACTTGTGGGCCTAGAGCAGCACTTTCACCGTGGTTCTCA... | GATTATTTGGATATAATAATAGTCACTGTTGTAATAGTCACCGTTCTTACAGGTAAGAGATGGCAAGATGGAGAGATGTGATACCCAAGCCATGTTTATAACAACGATTGTTACCAATGCTTCCCTTAGGGTGGGTTTCTTTTCTTTTTTGGCAAATACTAGCGGTAGTAGGGGATTCTGATATATGTTGTTGAATGGGCTTAAACAGTCATTTAACAAAAGTGATTTTCATACAGTATGAATTTTAATTATCTATTGACAGCTGTTAACAGCATAGTTACACTTGTGGGCCTAGAGCAGCACTTTCACCGTGGTTCTCA... | pathogenic | 107,774 |
The mutation in gene PRPH2 (peripherin 2) at chromosome 6, position 42698429—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['PRPH2-related_disorder', 'Patterned_dystrophy_of_the_retinal_pigment_epithelium', 'Retinal_dystrophy', 'Vitelliform_macular_dystrophy_2'] | GGATATAATAATAGTCACTGTTGTAATAGTCACCGTTCTTACAGGTAAGAGATGGCAAGATGGAGAGATGTGATACCCAAGCCATGTTTATAACAACGATTGTTACCAATGCTTCCCTTAGGGTGGGTTTCTTTTCTTTTTTGGCAAATACTAGCGGTAGTAGGGGATTCTGATATATGTTGTTGAATGGGCTTAAACAGTCATTTAACAAAAGTGATTTTCATACAGTATGAATTTTAATTATCTATTGACAGCTGTTAACAGCATAGTTACACTTGTGGGCCTAGAGCAGCACTTTCACCGTGGTTCTCAGCACTCTT... | GGATATAATAATAGTCACTGTTGTAATAGTCACCGTTCTTACAGGTAAGAGATGGCAAGATGGAGAGATGTGATACCCAAGCCATGTTTATAACAACGATTGTTACCAATGCTTCCCTTAGGGTGGGTTTCTTTTCTTTTTTGGCAAATACTAGCGGTAGTAGGGGATTCTGATATATGTTGTTGAATGGGCTTAAACAGTCATTTAACAAAAGTGATTTTCATACAGTATGAATTTTAATTATCTATTGACAGCTGTTAACAGCATAGTTACACTTGTGGGCCTAGAGCAGCACTTTCACCGTGGTTCTCAGCACTCTT... | pathogenic | 107,777 |
Variant chromosome 6, position 42698437, gene PRPH2 (peripherin 2): benign or pathogenic? Disease(s)? | pathogenic; ['PRPH2-related_disorder', 'Patterned_macular_dystrophy_1', 'Retinal_dystrophy'] | TAATAGTCACTGTTGTAATAGTCACCGTTCTTACAGGTAAGAGATGGCAAGATGGAGAGATGTGATACCCAAGCCATGTTTATAACAACGATTGTTACCAATGCTTCCCTTAGGGTGGGTTTCTTTTCTTTTTTGGCAAATACTAGCGGTAGTAGGGGATTCTGATATATGTTGTTGAATGGGCTTAAACAGTCATTTAACAAAAGTGATTTTCATACAGTATGAATTTTAATTATCTATTGACAGCTGTTAACAGCATAGTTACACTTGTGGGCCTAGAGCAGCACTTTCACCGTGGTTCTCAGCACTCTTGAGAGATA... | TAATAGTCACTGTTGTAATAGTCACCGTTCTTACAGGTAAGAGATGGCAAGATGGAGAGATGTGATACCCAAGCCATGTTTATAACAACGATTGTTACCAATGCTTCCCTTAGGGTGGGTTTCTTTTCTTTTTTGGCAAATACTAGCGGTAGTAGGGGATTCTGATATATGTTGTTGAATGGGCTTAAACAGTCATTTAACAAAAGTGATTTTCATACAGTATGAATTTTAATTATCTATTGACAGCTGTTAACAGCATAGTTACACTTGTGGGCCTAGAGCAGCACTTTCACCGTGGTTCTCAGCACTCTTGAGAGATA... | pathogenic | 107,779 |
Regarding the variant found on chromosome 6 at position 42704423 in gene PRPH2 (peripherin 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['PRPH2-related_disorder', 'Retinal_dystrophy'] | AATCTTTGGGAATCTCCTCAATGGAAAAAGCTTCCTCACCAAATCTTCCTGGCTTTGTACATTGGGATTTTGAAGTTTGGATTTTCTGCTCTCAAGGTAGCTCAAAGCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAA... | AATCTTTGGGAATCTCCTCAATGGAAAAAGCTTCCTCACCAAATCTTCCTGGCTTTGTACATTGGGATTTTGAAGTTTGGATTTTCTGCTCTCAAGGTAGCTCAAAGCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAA... | pathogenic | 107,786 |
Does the chromosome 6 mutation at position 42704544 within gene PRPH2 (peripherin 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['PRPH2-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa'] | CACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGA... | CACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGA... | pathogenic | 107,800 |
A mutation at chromosome position 42704561 on chromosome 6 in gene PRPH2 (peripherin 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['PRPH2-related_disorder', 'Retinal_dystrophy'] | TACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATT... | TACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATT... | pathogenic | 107,812 |
Is chromosome 6, position 42704566, gene PRPH2 (peripherin 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['PRPH2-related_disorder', 'Patterned_macular_dystrophy_1'] | ACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACT... | ACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACT... | pathogenic | 107,817 |
Evaluate if the mutation on chromosome 6 at position 42704567 in PRPH2 (peripherin 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['PRPH2-related_disorder', 'Pigmentary_retinal_dystrophy'] | CAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTC... | CAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTC... | pathogenic | 107,819 |
A genetic variant on chromosome 6, position 42704595, affects the gene PRPH2 (peripherin 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['PRPH2-related_disorder', 'Patterned_dystrophy_of_the_retinal_pigment_epithelium'] | CCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCAT... | CCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTTCAT... | pathogenic | 107,824 |
Variant at chromosome position 42721755, chromosome 6, gene PRPH2 (peripherin 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['PRPH2-related_disorder', 'Retinal_dystrophy'] | TTACAGGCATGCATCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTAC... | TTACAGGCATGCATCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGAACTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTAC... | pathogenic | 107,833 |
Determine if the mutation at chromosome 6, position 42721871 in gene PRPH2 (peripherin 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['PRPH2-related_disorder', 'Retinitis_pigmentosa'] | CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATT... | CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATT... | pathogenic | 107,849 |
The chromosome 6, position 42721871 genetic variant in gene PRPH2 (peripherin 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cone-rod_dystrophy', 'PRPH2-related_disorder', 'Patterned_macular_dystrophy_1', 'Retinal_dystrophy', 'Retinitis_pigmentosa_7', 'Stargardt_disease'] | CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATT... | CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATT... | pathogenic | 107,850 |
Variant at chromosome position 42721893, chromosome 6, gene PRPH2 (peripherin 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['PRPH2-related_disorder', 'Retinal_dystrophy', 'Stargardt_disease', 'maculopathy'] | AGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATT... | AGGTGTGAGCTACCGCACCCGGCCCTAAATTGTCTTTATACTATCATTACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATT... | pathogenic | 107,852 |
Gene PRPH2 (peripherin 2) variant at chromosome position 42721940 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['PRPH2-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Stargardt_disease'] | TACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACA... | TACACTGTATGATTATGTAAATGTTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACA... | pathogenic | 107,858 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 42721963, gene PRPH2 (peripherin 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Retinal_dystrophy'] | TTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAG... | TTAACAAGACTAGACTGAAACTGAAATGTAGAAAAACTAAAGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAG... | pathogenic | 107,860 |
Variant on chromosome 6, at position 42722003, affecting PRPH2 (peripherin 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Isolated_macular_dystrophy', 'Retinal_dystrophy'] | AGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGG... | AGGCATTAATCAAGTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGG... | pathogenic | 107,861 |
Regarding the variant found on chromosome 6 at position 42722016 in gene PRPH2 (peripherin 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['PRPH2-related_disorder', 'Patterned_dystrophy_of_the_retinal_pigment_epithelium', 'Retinal_dystrophy', 'Stargardt_disease'] | GTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGG... | GTTATGGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGG... | pathogenic | 107,862 |
Is the genetic mutation found on chromosome 6 at position 42722021, within the gene PRPH2 (peripherin 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['PRPH2-related_disorder', 'Patterned_dystrophy_of_the_retinal_pigment_epithelium', 'Stargardt_disease'] | GGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATG... | GGGTGAGAAGCTAGCTTGAATTTGTTTTCCTATTTTGGCTTCTTTTAATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATG... | pathogenic | 107,864 |
The chromosome 6, position 42722068 genetic variant in gene PRPH2 (peripherin 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['PRPH2-related_disorder', 'Retinal_dystrophy', 'Stargardt_disease'] | ATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACA... | ATATTACTGCTGTATTTTTTGTGCGTGTAATAGAAGAATTTTTCCAAGTCAGTGGAGTTAGGAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACA... | pathogenic | 107,867 |
Is chromosome 6, position 42722129, gene PRPH2 (peripherin 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['PRPH2-related_disorder'] | GAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTC... | GAAAATTTCCCACCAACAAGTTGGTATGGGACATTGAAGGAGTTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTC... | pathogenic | 107,871 |
Mutation found at chromosome 6 position 42722171, gene PRPH2 (peripherin 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['PRPH2-related_disorder', 'Stargardt_disease'] | TTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTG... | TTTTGATTCAGCTAAATATTTGCCTGAAATTTTGGATCCATTGACCATTGAGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTG... | pathogenic | 107,873 |
Is the genetic variant on chromosome 6, position 42722221, gene PRPH2 (peripherin 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['PRPH2-related_disorder', 'Retinal_dystrophy', 'Stargardt_disease', 'Vitelliform_macular_dystrophy_3'] | AGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCT... | AGAGTGGAGTGACCTAGATAATTCCTTCACTCTGATACAAAAGGGGATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCT... | pathogenic | 107,876 |
Variant in gene PRPH2 (peripherin 2), located at chromosome 6 position 42722266: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['PRPH2-related_disorder'] | GATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAA... | GATTTGGAGTTACCGAGAGATTTGAATACATCTGTCCAAGAACTGACTCTATGCAGGAGACAATCAAGGGAAATGATAGAGGAAAAGATGAAAAGCCCCTTCTCTGTGAGCCTCTGCTCACAGAGGCTGGTTCTACCATCGGCCTCTCCCACTCCCCAGAATTCTGCTTGTCCCCCTGGCTTCATGCCCTCCTCGGGAGATTTATGTAAATCGTGGCATCTTGTGCTGCCCCTGCAGACCTGTCACCTGGGAAGGGCACAGCCCTTTACAATCCTCTCCTGACTGGGGATTTGCAGCAGTAATCTCCATCCACAAGAAAA... | pathogenic | 107,878 |
A genetic alteration at chromosome 6, position 42964893, in gene PEX6 (peroxisomal biogenesis factor 6)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Peroxisome_biogenesis_disorder_4A_(Zellweger)'] | GGAAACAGTTTCGCTCACTTGCCAGACTGCAAAGGTAAGAGAGGGTGTGGCCTTGGGCATGGCCCCCGCCTTGAGGCCCCCTTCCACAGACATCTGGCACCTGCTCTCCTGCCAAAGCAGACTCTCTGCCTTGGCTCTGGCACCCCTGGGGAGGGGAGAGATGGGAGGGAGACTGGTGCTGGGGGCCCTGAGCAGATGGAGTCTTTCTGCCCGTGCCTGGAGCTCAGGGGACCAGAGTGAGCACCGGCTGGCGCTGAAAAACATTGCGAGCATGGTGCGGGCAGGGGGCCTACTGGTCATTGATCATCGCAACTACGACC... | GGAAACAGTTTCGCTCACTTGCCAGACTGCAAAGGTAAGAGAGGGTGTGGCCTTGGGCATGGCCCCCGCCTTGAGGCCCCCTTCCACAGACATCTGGCACCTGCTCTCCTGCCAAAGCAGACTCTCTGCCTTGGCTCTGGCACCCCTGGGGAGGGGAGAGATGGGAGGGAGACTGGTGCTGGGGGCCCTGAGCAGATGGAGTCTTTCTGCCCGTGCCTGGAGCTCAGGGGACCAGAGTGAGCACCGGCTGGCGCTGAAAAACATTGCGAGCATGGTGCGGGCAGGGGGCCTACTGGTCATTGATCATCGCAACTACGACC... | pathogenic | 107,896 |
A genetic variant at chromosome 6, position 42965712, affecting gene PEX6 (peroxisomal biogenesis factor 6)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | CATTCCCTGCTACTTCATCCACGTGCTCAAGAGGACAGACTGAGTGTGGCCTCAGCTCCCACAAGCCTCTGCCCAGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTC... | CATTCCCTGCTACTTCATCCACGTGCTCAAGAGGACAGACTGAGTGTGGCCTCAGCTCCCACAAGCCTCTGCCCAGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTC... | pathogenic | 107,906 |
The mutation in gene PEX6 (peroxisomal biogenesis factor 6) at chromosome 6, position 42965712—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder'] | CATTCCCTGCTACTTCATCCACGTGCTCAAGAGGACAGACTGAGTGTGGCCTCAGCTCCCACAAGCCTCTGCCCAGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTC... | CATTCCCTGCTACTTCATCCACGTGCTCAAGAGGACAGACTGAGTGTGGCCTCAGCTCCCACAAGCCTCTGCCCAGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTC... | pathogenic | 107,907 |
Determine if the mutation at chromosome 6, position 42965735 in gene PEX6 (peroxisomal biogenesis factor 6) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | TGCTCAAGAGGACAGACTGAGTGTGGCCTCAGCTCCCACAAGCCTCTGCCCAGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTCCAACCTTTCATGCCACAACACCA... | TGCTCAAGAGGACAGACTGAGTGTGGCCTCAGCTCCCACAAGCCTCTGCCCAGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTCCAACCTTTCATGCCACAACACCA... | pathogenic | 107,911 |
Evaluate the clinical significance of the mutation at chromosome 6, position 42965786 in gene PEX6 (peroxisomal biogenesis factor 6): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder'] | AGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTCCAACCTTTCATGCCACAACACCAGTAGGGGGCGGGACATGCTTTATTTTCAGCCACAGAACTAGCCCTCTCAGG... | AGGCACTGCTAGGCTCTGTCTGGAAGATGGGGACCAGCAGCCCCACACCAGGGCCAGCCTCTAGAGCAGACTACAGCTGGGGTGCAGGGATGTGGGTTCCACAGACGGAAGGGTAAACAATATAGTCTTTTTCAGTTCCTGCATGCATTGTGTTTATTTATGTCAGAAGGATCAGGCTCCCATGCTGCCCACCCCCCCACCCTCTCCCAGGGCTTACTCCTCCCACAACCCTGCTCTTTCTCACTCCAACCTTTCATGCCACAACACCAGTAGGGGGCGGGACATGCTTTATTTTCAGCCACAGAACTAGCCCTCTCAGG... | pathogenic | 107,912 |
Assess the variant on chromosome 6, position 42966090, impacting PEX6 (peroxisomal biogenesis factor 6): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder'] | AACTAGCCCTCTCAGGGCCCAATCCCCAGAACCCAAGGCCCTGGCCCTCTTCCTGAGTAGATGGGCCTTTCTCTTAGAGCCGGCCTGGAAGGAGGGGCAAGTAGGCAGGAGATATCTCTTGAGCTGTTGCTGCTGTCTCAATGCCACTTTGCACCCTGGGATCTCCTGGAGGGAGGTGGCCTCCAGGTGGGTTGGCAGCAGCCTGAGGAGGAGCCCTTCCTTCCCAGATCTCTCTGTGGGCTATCAAGGTACCTGCAGCCATGCTGAGCGGGGTCCCAGACCCTGGGGGGCTCCTAGCAGGCAGCAAACTTGCGCTGGAT... | AACTAGCCCTCTCAGGGCCCAATCCCCAGAACCCAAGGCCCTGGCCCTCTTCCTGAGTAGATGGGCCTTTCTCTTAGAGCCGGCCTGGAAGGAGGGGCAAGTAGGCAGGAGATATCTCTTGAGCTGTTGCTGCTGTCTCAATGCCACTTTGCACCCTGGGATCTCCTGGAGGGAGGTGGCCTCCAGGTGGGTTGGCAGCAGCCTGAGGAGGAGCCCTTCCTTCCCAGATCTCTCTGTGGGCTATCAAGGTACCTGCAGCCATGCTGAGCGGGGTCCCAGACCCTGGGGGGCTCCTAGCAGGCAGCAAACTTGCGCTGGAT... | pathogenic | 107,917 |
A genetic variant at chromosome 6, position 42966536, affecting gene PEX6 (peroxisomal biogenesis factor 6)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Heimler_syndrome_2', 'Inborn_genetic_diseases', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | GGGGAGGCTGTGGTCTATGCCCAGGCAGGGGAGAGCCCTGCGAAGGTGGCTTCCTGCTCAGGGTCTCCTAGATGTCAATGATCTTCCCTCTGGAATCCAGGACTAGGTTTGTCTCCCACTAGTTTTTTTTTTCCCTTAAACATTTTTTTTAGAGTTGGGGTCTCTCTGTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTCAGGTGCACCCAGCTCCCCACTAGCTTTTTGGTTGACCTCTCAGACCGGCAAGTGGCTCACCTTCCTCCAGGTCATGAA... | GGGGAGGCTGTGGTCTATGCCCAGGCAGGGGAGAGCCCTGCGAAGGTGGCTTCCTGCTCAGGGTCTCCTAGATGTCAATGATCTTCCCTCTGGAATCCAGGACTAGGTTTGTCTCCCACTAGTTTTTTTTTTCCCTTAAACATTTTTTTTAGAGTTGGGGTCTCTCTGTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTCAGGTGCACCCAGCTCCCCACTAGCTTTTTGGTTGACCTCTCAGACCGGCAAGTGGCTCACCTTCCTCCAGGTCATGAA... | pathogenic | 107,922 |
The mutation impacting PEX6 (peroxisomal biogenesis factor 6) on chromosome 6 at position 42966608: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder'] | TGTCAATGATCTTCCCTCTGGAATCCAGGACTAGGTTTGTCTCCCACTAGTTTTTTTTTTCCCTTAAACATTTTTTTTAGAGTTGGGGTCTCTCTGTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTCAGGTGCACCCAGCTCCCCACTAGCTTTTTGGTTGACCTCTCAGACCGGCAAGTGGCTCACCTTCCTCCAGGTCATGAACCCTGCGTTTGAGGGCAGCTGTCATAGCATCAGAGCAGAGAGAGTAGAGGTCCGCGCCCGTCAGCTGGGGAG... | TGTCAATGATCTTCCCTCTGGAATCCAGGACTAGGTTTGTCTCCCACTAGTTTTTTTTTTCCCTTAAACATTTTTTTTAGAGTTGGGGTCTCTCTGTGTTGCCCAGGCTGGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTCAGGTGCACCCAGCTCCCCACTAGCTTTTTGGTTGACCTCTCAGACCGGCAAGTGGCTCACCTTCCTCCAGGTCATGAACCCTGCGTTTGAGGGCAGCTGTCATAGCATCAGAGCAGAGAGAGTAGAGGTCCGCGCCCGTCAGCTGGGGAG... | pathogenic | 107,924 |
A genetic variant on chromosome 6, position 42966795, affects the gene PEX6 (peroxisomal biogenesis factor 6). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B', 'Zellweger_spectrum_disorders'] | CACTAGCTTTTTGGTTGACCTCTCAGACCGGCAAGTGGCTCACCTTCCTCCAGGTCATGAACCCTGCGTTTGAGGGCAGCTGTCATAGCATCAGAGCAGAGAGAGTAGAGGTCCGCGCCCGTCAGCTGGGGAGGGCAGCAATCTAGCACGTTTACCAGGCTCACAGATGGCTCTAGCTTGAATCTGTTGTGGGATACAGGAAGAAACAGAGTTGGCATCACCTCCTCCCTCGAAAGCCAGTGCTGACCAGCTCATCCTGCATGTTGCATGCATCCCCTAAGCATCCCAAGGCCCAAGCCCTTCGCAGTCTTCCTCTAACA... | CACTAGCTTTTTGGTTGACCTCTCAGACCGGCAAGTGGCTCACCTTCCTCCAGGTCATGAACCCTGCGTTTGAGGGCAGCTGTCATAGCATCAGAGCAGAGAGAGTAGAGGTCCGCGCCCGTCAGCTGGGGAGGGCAGCAATCTAGCACGTTTACCAGGCTCACAGATGGCTCTAGCTTGAATCTGTTGTGGGATACAGGAAGAAACAGAGTTGGCATCACCTCCTCCCTCGAAAGCCAGTGCTGACCAGCTCATCCTGCATGTTGCATGCATCCCCTAAGCATCCCAAGGCCCAAGCCCTTCGCAGTCTTCCTCTAACA... | pathogenic | 107,928 |
Is the chromosome 6, position 42966851 variant in PEX6 (peroxisomal biogenesis factor 6) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder'] | ATGAACCCTGCGTTTGAGGGCAGCTGTCATAGCATCAGAGCAGAGAGAGTAGAGGTCCGCGCCCGTCAGCTGGGGAGGGCAGCAATCTAGCACGTTTACCAGGCTCACAGATGGCTCTAGCTTGAATCTGTTGTGGGATACAGGAAGAAACAGAGTTGGCATCACCTCCTCCCTCGAAAGCCAGTGCTGACCAGCTCATCCTGCATGTTGCATGCATCCCCTAAGCATCCCAAGGCCCAAGCCCTTCGCAGTCTTCCTCTAACAGAGCATACTTGCGTGTGATGGCACTTAGAACGCGTAGCTGGGAGGCCCGGTCCTCA... | ATGAACCCTGCGTTTGAGGGCAGCTGTCATAGCATCAGAGCAGAGAGAGTAGAGGTCCGCGCCCGTCAGCTGGGGAGGGCAGCAATCTAGCACGTTTACCAGGCTCACAGATGGCTCTAGCTTGAATCTGTTGTGGGATACAGGAAGAAACAGAGTTGGCATCACCTCCTCCCTCGAAAGCCAGTGCTGACCAGCTCATCCTGCATGTTGCATGCATCCCCTAAGCATCCCAAGGCCCAAGCCCTTCGCAGTCTTCCTCTAACAGAGCATACTTGCGTGTGATGGCACTTAGAACGCGTAGCTGGGAGGCCCGGTCCTCA... | pathogenic | 107,930 |
Evaluate if the mutation on chromosome 6 at position 42967410 in PEX6 (peroxisomal biogenesis factor 6) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Heimler_syndrome_2', 'Inborn_genetic_diseases', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | CACCACCCTGGAGAGAAGGGAGCAAGGGCAAGAGTCCTTGGTGTCCCCCTTAGACTCTGCCCCTGCCTGTGGTACCTCTCTTTACAGGCAGTCTCAACAGGGCCCTCCACTCAGCTGTGCCCAATGTGCCCCACCAGGTAGGCCCCCATTCTCCTCAGTGGACCCTGCCCAATTTCATGGCCCCTTTCAGCTTCCATTATATTATCTCAGAACTGAAACAGCAGGAACTTCTATCTCTGGACTCTGAAGACTGCTGTGAGCTTTCTCATATCCTTCCCACCCTGGACCCCTCAGCTTTCATTCCCACTCAGACCCCTACC... | CACCACCCTGGAGAGAAGGGAGCAAGGGCAAGAGTCCTTGGTGTCCCCCTTAGACTCTGCCCCTGCCTGTGGTACCTCTCTTTACAGGCAGTCTCAACAGGGCCCTCCACTCAGCTGTGCCCAATGTGCCCCACCAGGTAGGCCCCCATTCTCCTCAGTGGACCCTGCCCAATTTCATGGCCCCTTTCAGCTTCCATTATATTATCTCAGAACTGAAACAGCAGGAACTTCTATCTCTGGACTCTGAAGACTGCTGTGAGCTTTCTCATATCCTTCCCACCCTGGACCCCTCAGCTTTCATTCCCACTCAGACCCCTACC... | pathogenic | 107,933 |
Variant on chromosome 6, at position 42967560, affecting PEX6 (peroxisomal biogenesis factor 6): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | CTCCTCAGTGGACCCTGCCCAATTTCATGGCCCCTTTCAGCTTCCATTATATTATCTCAGAACTGAAACAGCAGGAACTTCTATCTCTGGACTCTGAAGACTGCTGTGAGCTTTCTCATATCCTTCCCACCCTGGACCCCTCAGCTTTCATTCCCACTCAGACCCCTACCTGTCCATCACTCCTCCAGAATCTCCACTTCGCCCCCGGCTTGGGGCCAAAGAGTCCAGTTCATCAAAGAAGATAATGCATGGAGCTGCAGCCCTGGCCCTGGCAAACACTGAAGAGAGAGAGGGGCCCACAGGAGGGCAAAGCTCGGCTT... | CTCCTCAGTGGACCCTGCCCAATTTCATGGCCCCTTTCAGCTTCCATTATATTATCTCAGAACTGAAACAGCAGGAACTTCTATCTCTGGACTCTGAAGACTGCTGTGAGCTTTCTCATATCCTTCCCACCCTGGACCCCTCAGCTTTCATTCCCACTCAGACCCCTACCTGTCCATCACTCCTCCAGAATCTCCACTTCGCCCCCGGCTTGGGGCCAAAGAGTCCAGTTCATCAAAGAAGATAATGCATGGAGCTGCAGCCCTGGCCCTGGCAAACACTGAAGAGAGAGAGGGGCCCACAGGAGGGCAAAGCTCGGCTT... | pathogenic | 107,938 |
Is the genetic change at chromosome 6, position 42968455, within gene PEX6 (peroxisomal biogenesis factor 6) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder'] | TCCTGCAGCCCACCCACATCATGCCAGGACACTGAGGGGATCTAGGAGATGGAAAGTGCGTGGTTGGGATATGCTCTTGGAGGGGCTCCTGTCCCACCTCCAAGGACTTGGTCTCCACCTTGGGGGCTCCAACGGCCTGGGAGTGAGCTGTCTGCAGTTGCTCCAGTGCCTGCCCAAAGTCCTCAGCCAGGAGAGGAAAGCCGGCAGCACACAGCTCCCCCTCATCCTCCTCAGTCAAGCCACCTGCCAAACTGCAAAGAGGAACACAGGGAAGCCTCCTCACCATCAGCGTCCCATTCCCTTCTCCCTTCCTCACCACC... | TCCTGCAGCCCACCCACATCATGCCAGGACACTGAGGGGATCTAGGAGATGGAAAGTGCGTGGTTGGGATATGCTCTTGGAGGGGCTCCTGTCCCACCTCCAAGGACTTGGTCTCCACCTTGGGGGCTCCAACGGCCTGGGAGTGAGCTGTCTGCAGTTGCTCCAGTGCCTGCCCAAAGTCCTCAGCCAGGAGAGGAAAGCCGGCAGCACACAGCTCCCCCTCATCCTCCTCAGTCAAGCCACCTGCCAAACTGCAAAGAGGAACACAGGGAAGCCTCCTCACCATCAGCGTCCCATTCCCTTCTCCCTTCCTCACCACC... | pathogenic | 107,945 |
Located at chromosome 6 position 42968871, the variant affecting gene PEX6 (peroxisomal biogenesis factor 6)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | GGTCAGAAGGGCATAGAGATCCCCTACCACAAAGCCCTAGGGAACCACAGGAAAGGACACATGAGCAGGGCACAGTAGGCAGGAACCTTCAGGGACCGTCCCCCAGCTAGAGCAGAGGCCCTCTGTTGATGCCTTAGGTTTGTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCGCAACTTCCACCCGGGTTCAAGCGATTATCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAACTTTGT... | GGTCAGAAGGGCATAGAGATCCCCTACCACAAAGCCCTAGGGAACCACAGGAAAGGACACATGAGCAGGGCACAGTAGGCAGGAACCTTCAGGGACCGTCCCCCAGCTAGAGCAGAGGCCCTCTGTTGATGCCTTAGGTTTGTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCGCAACTTCCACCCGGGTTCAAGCGATTATCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAACTTTGT... | pathogenic | 107,949 |
Is the chromosome 6, position 42968937 variant in PEX6 (peroxisomal biogenesis factor 6) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder'] | AGGGCACAGTAGGCAGGAACCTTCAGGGACCGTCCCCCAGCTAGAGCAGAGGCCCTCTGTTGATGCCTTAGGTTTGTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCGCAACTTCCACCCGGGTTCAAGCGATTATCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAACTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAGGTGA... | AGGGCACAGTAGGCAGGAACCTTCAGGGACCGTCCCCCAGCTAGAGCAGAGGCCCTCTGTTGATGCCTTAGGTTTGTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCGCAACTTCCACCCGGGTTCAAGCGATTATCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAACTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAGGTGA... | pathogenic | 107,950 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 42968937, gene PEX6 (peroxisomal biogenesis factor 6). What disease(s) is it linked to if pathogenic? | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | AGGGCACAGTAGGCAGGAACCTTCAGGGACCGTCCCCCAGCTAGAGCAGAGGCCCTCTGTTGATGCCTTAGGTTTGTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCGCAACTTCCACCCGGGTTCAAGCGATTATCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAACTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAGGTGA... | AGGGCACAGTAGGCAGGAACCTTCAGGGACCGTCCCCCAGCTAGAGCAGAGGCCCTCTGTTGATGCCTTAGGTTTGTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCGCAACTTCCACCCGGGTTCAAGCGATTATCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAACTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAGGTGA... | pathogenic | 107,951 |
Variant in PEX6 (peroxisomal biogenesis factor 6), chromosome 6, position 42968986—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | AGGCCCTCTGTTGATGCCTTAGGTTTGTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCGCAACTTCCACCCGGGTTCAAGCGATTATCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAACTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCAC... | AGGCCCTCTGTTGATGCCTTAGGTTTGTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCGCAACTTCCACCCGGGTTCAAGCGATTATCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAACTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCAC... | pathogenic | 107,953 |
The mutation impacting PEX6 (peroxisomal biogenesis factor 6) on chromosome 6 at position 42969695: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Heimler_syndrome_2', 'PEX6-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | GGGCAGGGAAGTGAGGTGGGTGCTAGGATGGGGTAGGGAGATGAGCATCTACCCCAGTTCCTAGATGGGGGAACTGTGTTTCCCCCATCACATTGAGGGCAGAGGCTTTTTCTTTAACCGAGTGTTCCCCAAGAAATGCTAGACCACAGACTCCTCCCTCTGGATCCCTCTAAAGACACGGAGCTCAGGGCTGTCTAGAGGGCAGCCAAATGGATGGGAGATGACTGAGAAGCCACTGAGGGGTGAGAGAAGGGAGGACTGAAAGGCTGAAAAGTAGGAGGGCTGGCCCCCCCGCTCCCCCTTTTTTTTTTTTTTTTAAG... | GGGCAGGGAAGTGAGGTGGGTGCTAGGATGGGGTAGGGAGATGAGCATCTACCCCAGTTCCTAGATGGGGGAACTGTGTTTCCCCCATCACATTGAGGGCAGAGGCTTTTTCTTTAACCGAGTGTTCCCCAAGAAATGCTAGACCACAGACTCCTCCCTCTGGATCCCTCTAAAGACACGGAGCTCAGGGCTGTCTAGAGGGCAGCCAAATGGATGGGAGATGACTGAGAAGCCACTGAGGGGTGAGAGAAGGGAGGACTGAAAGGCTGAAAAGTAGGAGGGCTGGCCCCCCCGCTCCCCCTTTTTTTTTTTTTTTTAAG... | pathogenic | 107,955 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 42969708, gene PEX6 (peroxisomal biogenesis factor 6). What disease(s) is it linked to if pathogenic? | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | AGGTGGGTGCTAGGATGGGGTAGGGAGATGAGCATCTACCCCAGTTCCTAGATGGGGGAACTGTGTTTCCCCCATCACATTGAGGGCAGAGGCTTTTTCTTTAACCGAGTGTTCCCCAAGAAATGCTAGACCACAGACTCCTCCCTCTGGATCCCTCTAAAGACACGGAGCTCAGGGCTGTCTAGAGGGCAGCCAAATGGATGGGAGATGACTGAGAAGCCACTGAGGGGTGAGAGAAGGGAGGACTGAAAGGCTGAAAAGTAGGAGGGCTGGCCCCCCCGCTCCCCCTTTTTTTTTTTTTTTTAAGACTGAGTCTTGCT... | AGGTGGGTGCTAGGATGGGGTAGGGAGATGAGCATCTACCCCAGTTCCTAGATGGGGGAACTGTGTTTCCCCCATCACATTGAGGGCAGAGGCTTTTTCTTTAACCGAGTGTTCCCCAAGAAATGCTAGACCACAGACTCCTCCCTCTGGATCCCTCTAAAGACACGGAGCTCAGGGCTGTCTAGAGGGCAGCCAAATGGATGGGAGATGACTGAGAAGCCACTGAGGGGTGAGAGAAGGGAGGACTGAAAGGCTGAAAAGTAGGAGGGCTGGCCCCCCCGCTCCCCCTTTTTTTTTTTTTTTTAAGACTGAGTCTTGCT... | pathogenic | 107,956 |
Determine if the mutation at chromosome 6, position 42969713 in gene PEX6 (peroxisomal biogenesis factor 6) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Heimler_syndrome_2', 'PEX6-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B', 'Zellweger_spectrum_disorders'] | GGTGCTAGGATGGGGTAGGGAGATGAGCATCTACCCCAGTTCCTAGATGGGGGAACTGTGTTTCCCCCATCACATTGAGGGCAGAGGCTTTTTCTTTAACCGAGTGTTCCCCAAGAAATGCTAGACCACAGACTCCTCCCTCTGGATCCCTCTAAAGACACGGAGCTCAGGGCTGTCTAGAGGGCAGCCAAATGGATGGGAGATGACTGAGAAGCCACTGAGGGGTGAGAGAAGGGAGGACTGAAAGGCTGAAAAGTAGGAGGGCTGGCCCCCCCGCTCCCCCTTTTTTTTTTTTTTTTAAGACTGAGTCTTGCTCTTGT... | GGTGCTAGGATGGGGTAGGGAGATGAGCATCTACCCCAGTTCCTAGATGGGGGAACTGTGTTTCCCCCATCACATTGAGGGCAGAGGCTTTTTCTTTAACCGAGTGTTCCCCAAGAAATGCTAGACCACAGACTCCTCCCTCTGGATCCCTCTAAAGACACGGAGCTCAGGGCTGTCTAGAGGGCAGCCAAATGGATGGGAGATGACTGAGAAGCCACTGAGGGGTGAGAGAAGGGAGGACTGAAAGGCTGAAAAGTAGGAGGGCTGGCCCCCCCGCTCCCCCTTTTTTTTTTTTTTTTAAGACTGAGTCTTGCTCTTGT... | pathogenic | 107,957 |
The mutation impacting PEX6 (peroxisomal biogenesis factor 6) on chromosome 6 at position 42969721: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | GATGGGGTAGGGAGATGAGCATCTACCCCAGTTCCTAGATGGGGGAACTGTGTTTCCCCCATCACATTGAGGGCAGAGGCTTTTTCTTTAACCGAGTGTTCCCCAAGAAATGCTAGACCACAGACTCCTCCCTCTGGATCCCTCTAAAGACACGGAGCTCAGGGCTGTCTAGAGGGCAGCCAAATGGATGGGAGATGACTGAGAAGCCACTGAGGGGTGAGAGAAGGGAGGACTGAAAGGCTGAAAAGTAGGAGGGCTGGCCCCCCCGCTCCCCCTTTTTTTTTTTTTTTTAAGACTGAGTCTTGCTCTTGTCGCCCAGG... | GATGGGGTAGGGAGATGAGCATCTACCCCAGTTCCTAGATGGGGGAACTGTGTTTCCCCCATCACATTGAGGGCAGAGGCTTTTTCTTTAACCGAGTGTTCCCCAAGAAATGCTAGACCACAGACTCCTCCCTCTGGATCCCTCTAAAGACACGGAGCTCAGGGCTGTCTAGAGGGCAGCCAAATGGATGGGAGATGACTGAGAAGCCACTGAGGGGTGAGAGAAGGGAGGACTGAAAGGCTGAAAAGTAGGAGGGCTGGCCCCCCCGCTCCCCCTTTTTTTTTTTTTTTTAAGACTGAGTCTTGCTCTTGTCGCCCAGG... | pathogenic | 107,958 |
Located at chromosome 6 position 42969747, the variant affecting gene PEX6 (peroxisomal biogenesis factor 6)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Heimler_syndrome_2', 'PEX6-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B', 'Zellweger_spectrum_disorders'] | CCCAGTTCCTAGATGGGGGAACTGTGTTTCCCCCATCACATTGAGGGCAGAGGCTTTTTCTTTAACCGAGTGTTCCCCAAGAAATGCTAGACCACAGACTCCTCCCTCTGGATCCCTCTAAAGACACGGAGCTCAGGGCTGTCTAGAGGGCAGCCAAATGGATGGGAGATGACTGAGAAGCCACTGAGGGGTGAGAGAAGGGAGGACTGAAAGGCTGAAAAGTAGGAGGGCTGGCCCCCCCGCTCCCCCTTTTTTTTTTTTTTTTAAGACTGAGTCTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGTATGATTTTGGC... | CCCAGTTCCTAGATGGGGGAACTGTGTTTCCCCCATCACATTGAGGGCAGAGGCTTTTTCTTTAACCGAGTGTTCCCCAAGAAATGCTAGACCACAGACTCCTCCCTCTGGATCCCTCTAAAGACACGGAGCTCAGGGCTGTCTAGAGGGCAGCCAAATGGATGGGAGATGACTGAGAAGCCACTGAGGGGTGAGAGAAGGGAGGACTGAAAGGCTGAAAAGTAGGAGGGCTGGCCCCCCCGCTCCCCCTTTTTTTTTTTTTTTTAAGACTGAGTCTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGTATGATTTTGGC... | pathogenic | 107,959 |
Considering the genetic mutation at chromosome 6, position 42969806, impacting PEX6 (peroxisomal biogenesis factor 6): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CTTTAACCGAGTGTTCCCCAAGAAATGCTAGACCACAGACTCCTCCCTCTGGATCCCTCTAAAGACACGGAGCTCAGGGCTGTCTAGAGGGCAGCCAAATGGATGGGAGATGACTGAGAAGCCACTGAGGGGTGAGAGAAGGGAGGACTGAAAGGCTGAAAAGTAGGAGGGCTGGCCCCCCCGCTCCCCCTTTTTTTTTTTTTTTTAAGACTGAGTCTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGTATGATTTTGGCTCACTGCAACCTCCGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAG... | CTTTAACCGAGTGTTCCCCAAGAAATGCTAGACCACAGACTCCTCCCTCTGGATCCCTCTAAAGACACGGAGCTCAGGGCTGTCTAGAGGGCAGCCAAATGGATGGGAGATGACTGAGAAGCCACTGAGGGGTGAGAGAAGGGAGGACTGAAAGGCTGAAAAGTAGGAGGGCTGGCCCCCCCGCTCCCCCTTTTTTTTTTTTTTTTAAGACTGAGTCTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGTATGATTTTGGCTCACTGCAACCTCCGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAG... | benign | 107,961 |
Clinical classification of chromosome 6, position 42974038, gene PEX6 (peroxisomal biogenesis factor 6): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)'] | GAAAACCTCGAAGAGGTGACATGGAGCCTAAATGGGGTTCCACAGAGCACCACCACCCTGAGACTGGGGGTACTGAGCACTGGCCAGAACCAAGCACTGGATATTGACCAGGGATGAACATCAGGCACTCCAAACAAGGACTGTCTCTCCTGGCAGAGGACCCAGGCTGGCTATGCCACAGACCTTGGACATGAAGGCTCTTATGTATGAGTTAGTGCATCTATCAGCTGTGCTCTCCTTCTAGTAAACTGCTGCAGGAAATGAGTCCAGAATACAGGGAATGCTGGGATACAGAGCTATACATTTTCCTCCCTACACAT... | GAAAACCTCGAAGAGGTGACATGGAGCCTAAATGGGGTTCCACAGAGCACCACCACCCTGAGACTGGGGGTACTGAGCACTGGCCAGAACCAAGCACTGGATATTGACCAGGGATGAACATCAGGCACTCCAAACAAGGACTGTCTCTCCTGGCAGAGGACCCAGGCTGGCTATGCCACAGACCTTGGACATGAAGGCTCTTATGTATGAGTTAGTGCATCTATCAGCTGTGCTCTCCTTCTAGTAAACTGCTGCAGGAAATGAGTCCAGAATACAGGGAATGCTGGGATACAGAGCTATACATTTTCCTCCCTACACAT... | pathogenic | 107,965 |
Does the variant impacting PEX6 (peroxisomal biogenesis factor 6) on chromosome 6, position 42974047, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder'] | GAAGAGGTGACATGGAGCCTAAATGGGGTTCCACAGAGCACCACCACCCTGAGACTGGGGGTACTGAGCACTGGCCAGAACCAAGCACTGGATATTGACCAGGGATGAACATCAGGCACTCCAAACAAGGACTGTCTCTCCTGGCAGAGGACCCAGGCTGGCTATGCCACAGACCTTGGACATGAAGGCTCTTATGTATGAGTTAGTGCATCTATCAGCTGTGCTCTCCTTCTAGTAAACTGCTGCAGGAAATGAGTCCAGAATACAGGGAATGCTGGGATACAGAGCTATACATTTTCCTCCCTACACATAAGGCTAAA... | GAAGAGGTGACATGGAGCCTAAATGGGGTTCCACAGAGCACCACCACCCTGAGACTGGGGGTACTGAGCACTGGCCAGAACCAAGCACTGGATATTGACCAGGGATGAACATCAGGCACTCCAAACAAGGACTGTCTCTCCTGGCAGAGGACCCAGGCTGGCTATGCCACAGACCTTGGACATGAAGGCTCTTATGTATGAGTTAGTGCATCTATCAGCTGTGCTCTCCTTCTAGTAAACTGCTGCAGGAAATGAGTCCAGAATACAGGGAATGCTGGGATACAGAGCTATACATTTTCCTCCCTACACATAAGGCTAAA... | pathogenic | 107,966 |
Gene mutation in PEX6 (peroxisomal biogenesis factor 6) at chromosome 6, position 42974893—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder'] | CGTAGTTAAGGCAGAAATCAGAGCCTGTATATCCTTACGTTGAGATATGGATGGTATGGCCCAAGTCTTGGTCCAAATAACACGAAGGCTAAGAACGGAAAGGAAGGAATCCCGTCTTGGTCTAGGCCATTAAACTCTTCTTTAAAAAGAAAAGAATTTAAATTTTACCTATTTATTTATTTTTTGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGAGCAGTGATGCGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCCACCA... | CGTAGTTAAGGCAGAAATCAGAGCCTGTATATCCTTACGTTGAGATATGGATGGTATGGCCCAAGTCTTGGTCCAAATAACACGAAGGCTAAGAACGGAAAGGAAGGAATCCCGTCTTGGTCTAGGCCATTAAACTCTTCTTTAAAAAGAAAAGAATTTAAATTTTACCTATTTATTTATTTTTTGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGAGCAGTGATGCGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCCACCA... | pathogenic | 107,972 |
Chromosome 6, position 42974960, gene PEX6 (peroxisomal biogenesis factor 6): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder'] | TTGGTCCAAATAACACGAAGGCTAAGAACGGAAAGGAAGGAATCCCGTCTTGGTCTAGGCCATTAAACTCTTCTTTAAAAAGAAAAGAATTTAAATTTTACCTATTTATTTATTTTTTGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGAGCAGTGATGCGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCCACCATCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTT... | TTGGTCCAAATAACACGAAGGCTAAGAACGGAAAGGAAGGAATCCCGTCTTGGTCTAGGCCATTAAACTCTTCTTTAAAAAGAAAAGAATTTAAATTTTACCTATTTATTTATTTTTTGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGAGCAGTGATGCGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCCACCATCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTT... | pathogenic | 107,976 |
Clinical significance of chromosome 6, position 42974997, gene PEX6 (peroxisomal biogenesis factor 6): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | AGGAATCCCGTCTTGGTCTAGGCCATTAAACTCTTCTTTAAAAAGAAAAGAATTTAAATTTTACCTATTTATTTATTTTTTGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGAGCAGTGATGCGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCCACCATCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCT... | AGGAATCCCGTCTTGGTCTAGGCCATTAAACTCTTCTTTAAAAAGAAAAGAATTTAAATTTTACCTATTTATTTATTTTTTGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGAGCAGTGATGCGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCCACCATCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCT... | pathogenic | 107,977 |
Mutation found at chromosome 6 position 42975001, gene PEX6 (peroxisomal biogenesis factor 6): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder'] | ATCCCGTCTTGGTCTAGGCCATTAAACTCTTCTTTAAAAAGAAAAGAATTTAAATTTTACCTATTTATTTATTTTTTGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGAGCAGTGATGCGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCCACCATCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCA... | ATCCCGTCTTGGTCTAGGCCATTAAACTCTTCTTTAAAAAGAAAAGAATTTAAATTTTACCTATTTATTTATTTTTTGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGAGCAGTGATGCGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCCCACCATCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAATTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCA... | pathogenic | 107,978 |
Evaluate if the mutation on chromosome 6 at position 42978252 in PEX6 (peroxisomal biogenesis factor 6) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CATGTTAGCCAGGCTTACTTTATTTAGTTTTAACTAAATTTAAAAATTTAAAAAGCCACAAAGTGGCTGGTGGCTTCCATATTGGACAGCACCATCTAAACCATATATCTAGGTCCTTAATTAAACACTATACTGTATTTGTCCCCCTAAACACAACTTTCATTTTTTTCTTTTTTTGAGACAGAATCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTGGGTTCACTGCAACTGCCACCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCCAGTTGTTGGGTTTACTGGTGTGCACCACCATACTG... | CATGTTAGCCAGGCTTACTTTATTTAGTTTTAACTAAATTTAAAAATTTAAAAAGCCACAAAGTGGCTGGTGGCTTCCATATTGGACAGCACCATCTAAACCATATATCTAGGTCCTTAATTAAACACTATACTGTATTTGTCCCCCTAAACACAACTTTCATTTTTTTCTTTTTTTGAGACAGAATCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTGGGTTCACTGCAACTGCCACCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCCAGTTGTTGGGTTTACTGGTGTGCACCACCATACTG... | benign | 107,981 |
Gene mutation in PEX6 (peroxisomal biogenesis factor 6) at chromosome 6, position 42978335—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | GGACAGCACCATCTAAACCATATATCTAGGTCCTTAATTAAACACTATACTGTATTTGTCCCCCTAAACACAACTTTCATTTTTTTCTTTTTTTGAGACAGAATCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTGGGTTCACTGCAACTGCCACCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCCAGTTGTTGGGTTTACTGGTGTGCACCACCATACTGGGCTGATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTAGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTG... | GGACAGCACCATCTAAACCATATATCTAGGTCCTTAATTAAACACTATACTGTATTTGTCCCCCTAAACACAACTTTCATTTTTTTCTTTTTTTGAGACAGAATCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTGGGTTCACTGCAACTGCCACCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCCAGTTGTTGGGTTTACTGGTGTGCACCACCATACTGGGCTGATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTAGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTG... | pathogenic | 107,984 |
Clinically, how would you classify the variant at chromosome 6, position 42978460, gene PEX6 (peroxisomal biogenesis factor 6): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Peroxisome_biogenesis_disorder'] | GAGTGCAGTGGTGTGATCTGGGTTCACTGCAACTGCCACCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCCAGTTGTTGGGTTTACTGGTGTGCACCACCATACTGGGCTGATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTAGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAG... | GAGTGCAGTGGTGTGATCTGGGTTCACTGCAACTGCCACCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCCAGTTGTTGGGTTTACTGGTGTGCACCACCATACTGGGCTGATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTAGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAG... | pathogenic | 107,989 |
Variant chromosome 6, position 42978460, gene PEX6 (peroxisomal biogenesis factor 6): benign or pathogenic? Disease(s)? | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder'] | GAGTGCAGTGGTGTGATCTGGGTTCACTGCAACTGCCACCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCCAGTTGTTGGGTTTACTGGTGTGCACCACCATACTGGGCTGATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTAGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAG... | GAGTGCAGTGGTGTGATCTGGGTTCACTGCAACTGCCACCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCCAGTTGTTGGGTTTACTGGTGTGCACCACCATACTGGGCTGATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTAGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAG... | pathogenic | 107,990 |
The genetic variant at chromosome 6, position 42978482, affecting gene PEX6 (peroxisomal biogenesis factor 6): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder'] | TTCACTGCAACTGCCACCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCCAGTTGTTGGGTTTACTGGTGTGCACCACCATACTGGGCTGATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTAGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGA... | TTCACTGCAACTGCCACCTCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCCAGTTGTTGGGTTTACTGGTGTGCACCACCATACTGGGCTGATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTAGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGA... | pathogenic | 107,992 |
Does the variant on chromosome 6 at location 42978619 affecting gene PEX6 (peroxisomal biogenesis factor 6) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | CAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCA... | CAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCA... | pathogenic | 107,995 |
Variant on chromosome 6, at position 42978620, affecting PEX6 (peroxisomal biogenesis factor 6): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder'] | AGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAA... | AGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAA... | pathogenic | 107,996 |
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