question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 7676153, gene TP53 (tumor protein p53): what disease(s) if pathogenic? | benign | GTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGAT... | GTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGAT... | benign | 263,250 |
Assess the variant on chromosome 17, position 7676163, impacting TP53 (tumor protein p53): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Li-Fraumeni_syndrome', 'Li-Fraumeni_syndrome_1'] | GGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCAC... | GGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCAC... | pathogenic | 263,258 |
The mutation impacting TP53 (tumor protein p53) on chromosome 17 at position 7676195: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome', 'Li-Fraumeni_syndrome_1'] | AGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTC... | AGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTC... | pathogenic | 263,268 |
A genetic alteration at chromosome 17, position 7676220, in gene TP53 (tumor protein p53)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Li-Fraumeni_syndrome', 'Li-Fraumeni_syndrome_1'] | GCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCT... | GCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCT... | pathogenic | 263,274 |
Variant at chromosome position 7676228, chromosome 17, gene TP53 (tumor protein p53): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome_1'] | CCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTAC... | CCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTAC... | pathogenic | 263,282 |
Clinical significance of chromosome 17, position 7676228, gene TP53 (tumor protein p53): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome', 'TP53-related_disorder'] | CCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTAC... | CCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTAC... | pathogenic | 263,283 |
Is the genetic change at chromosome 17, position 7676240, within gene TP53 (tumor protein p53) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome'] | CAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCA... | CAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCA... | pathogenic | 263,286 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 7676266, gene TP53 (tumor protein p53): what disease(s) if pathogenic? | pathogenic; ['Li-Fraumeni_syndrome', 'Li-Fraumeni_syndrome_1'] | TCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTA... | TCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTA... | pathogenic | 263,293 |
Variant at chromosome 17, position 7676266, gene TP53 (tumor protein p53): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome'] | TCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTA... | TCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTA... | pathogenic | 263,294 |
A genetic alteration at chromosome 17, position 7676325, in gene TP53 (tumor protein p53)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCG... | CAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCG... | benign | 263,307 |
Is the genetic change at chromosome 17, position 7676350, within gene TP53 (tumor protein p53) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAA... | CACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAA... | benign | 263,308 |
Located at chromosome 17 position 7676351, the variant affecting gene TP53 (tumor protein p53)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | ACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAA... | ACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAA... | benign | 263,309 |
For chromosome 17, position 7676382, gene TP53 (tumor protein p53): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome_1'] | GGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGC... | GGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGC... | pathogenic | 263,313 |
Chromosome 17, position 7676391, gene TP53 (tumor protein p53): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Li-Fraumeni_syndrome', 'Li-Fraumeni_syndrome_1'] | TGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAG... | TGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAG... | pathogenic | 263,318 |
Gene mutation in TP53 (tumor protein p53) at chromosome 17, position 7676397—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome', 'Li-Fraumeni_syndrome_1'] | GCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGG... | GCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGG... | pathogenic | 263,321 |
Located at chromosome 17 position 7676465, the variant affecting gene TP53 (tumor protein p53)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACA... | GGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACA... | benign | 263,330 |
A genetic variant at chromosome 17, position 7676542, affecting gene TP53 (tumor protein p53)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome', 'Li-Fraumeni_syndrome_1'] | GACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAA... | GACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAA... | pathogenic | 263,339 |
The mutation in gene TP53 (tumor protein p53) at chromosome 17, position 7676549—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome'] | GGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCT... | GGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCT... | pathogenic | 263,340 |
The genetic variant at chromosome 17, position 7676556, affecting gene TP53 (tumor protein p53): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Li-Fraumeni_syndrome_1'] | AGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCC... | AGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCC... | pathogenic | 263,345 |
Does the variant impacting KDM6B (lysine demethylase 6B) on chromosome 17, position 7846859, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CCCGGGCTGAGCTCGTCTGACCGGCTCCCGCGCCCCTCCTCCCCCGGCCACCGCTGCCGGGCTCACCTCGCTCCCATTGGTTCCGGCCAGGCTGTTACTGAGGCGGAGACACGGGTGATGATTGGCTTTCTGGGGAGAGAGGAAGTCCTGTGATTGGCCAGATCTCTGGAGCTTGCCGACGCGGTGTGAGGACGCTCCCACGGAGGCCGGGTAAGCGGCCGCTGCGTTTTGGGTCGGCCCAGTGGCTCCGGACTGGAAGCCTGGCAGCGCAGCCACCCCGTCCCTCTGACCGGCCTTTTGGTTCCCTGCCACACACGTCC... | CCCGGGCTGAGCTCGTCTGACCGGCTCCCGCGCCCCTCCTCCCCCGGCCACCGCTGCCGGGCTCACCTCGCTCCCATTGGTTCCGGCCAGGCTGTTACTGAGGCGGAGACACGGGTGATGATTGGCTTTCTGGGGAGAGAGGAAGTCCTGTGATTGGCCAGATCTCTGGAGCTTGCCGACGCGGTGTGAGGACGCTCCCACGGAGGCCGGGTAAGCGGCCGCTGCGTTTTGGGTCGGCCCAGTGGCTCCGGACTGGAAGCCTGGCAGCGCAGCCACCCCGTCCCTCTGACCGGCCTTTTGGTTCCCTGCCACACACGTCC... | benign | 263,430 |
Chromosome 17, position 7846859, gene KDM6B (lysine demethylase 6B): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CCCGGGCTGAGCTCGTCTGACCGGCTCCCGCGCCCCTCCTCCCCCGGCCACCGCTGCCGGGCTCACCTCGCTCCCATTGGTTCCGGCCAGGCTGTTACTGAGGCGGAGACACGGGTGATGATTGGCTTTCTGGGGAGAGAGGAAGTCCTGTGATTGGCCAGATCTCTGGAGCTTGCCGACGCGGTGTGAGGACGCTCCCACGGAGGCCGGGTAAGCGGCCGCTGCGTTTTGGGTCGGCCCAGTGGCTCCGGACTGGAAGCCTGGCAGCGCAGCCACCCCGTCCCTCTGACCGGCCTTTTGGTTCCCTGCCACACACGTCC... | CCCGGGCTGAGCTCGTCTGACCGGCTCCCGCGCCCCTCCTCCCCCGGCCACCGCTGCCGGGCTCACCTCGCTCCCATTGGTTCCGGCCAGGCTGTTACTGAGGCGGAGACACGGGTGATGATTGGCTTTCTGGGGAGAGAGGAAGTCCTGTGATTGGCCAGATCTCTGGAGCTTGCCGACGCGGTGTGAGGACGCTCCCACGGAGGCCGGGTAAGCGGCCGCTGCGTTTTGGGTCGGCCCAGTGGCTCCGGACTGGAAGCCTGGCAGCGCAGCCACCCCGTCCCTCTGACCGGCCTTTTGGTTCCCTGCCACACACGTCC... | benign | 263,431 |
Classify the chromosome 17 variant at position 7847275 affecting gene KDM6B (lysine demethylase 6B) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Neurodevelopmental_disorder_with_coarse_facies_and_mild_distal_skeletal_abnormalities'] | TGGTGGATGCCACAGTCCGCCCATCCCAGCCCCTGGGCCTTGACTGTGTGCTGGCCAGCTCGTCTCACTCCTTTTCCTTCTCTCTAGAATTGGCTGTGAAAGGACTGAGGCAGCCATCTGGGGGTAGCGGGCACTCTTATCAGAGCGGCTGGAGCCGGACCATCGTCCCAGAGAGCTGGGGCAGGGGGCCGTGCCCAATCTCCAGGGCTCCTGGGGCCACTGCTGACCTGGTAAGGGAAACTCTGGGGCCGAGCTGGCTGGATGTACACTGGCAGCTCTGGTTTTGCCTCCAGTAAGAGCATAATTTCTTATCCCCAACT... | TGGTGGATGCCACAGTCCGCCCATCCCAGCCCCTGGGCCTTGACTGTGTGCTGGCCAGCTCGTCTCACTCCTTTTCCTTCTCTCTAGAATTGGCTGTGAAAGGACTGAGGCAGCCATCTGGGGGTAGCGGGCACTCTTATCAGAGCGGCTGGAGCCGGACCATCGTCCCAGAGAGCTGGGGCAGGGGGCCGTGCCCAATCTCCAGGGCTCCTGGGGCCACTGCTGACCTGGTAAGGGAAACTCTGGGGCCGAGCTGGCTGGATGTACACTGGCAGCTCTGGTTTTGCCTCCAGTAAGAGCATAATTTCTTATCCCCAACT... | pathogenic | 263,433 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 7847703, gene KDM6B (lysine demethylase 6B). What disease(s) is it linked to if pathogenic? | pathogenic; ['Neurodevelopmental_disorder_with_coarse_facies_and_mild_distal_skeletal_abnormalities'] | ATCCCCCTCCTCGTAGCGCATGGCTGCCTGGAGGCAGGTGAGAAGTTGGGGCCCTCTGTCTCCAGGCACACCTCTTTCCATCTCTGTATCCCTCAATCTGTGTCATTCTCCATGGGTTCCTGTCATTCTGTGGGCTTCCGTGCATCAGCCCCCTCCTGCCTAGGTAGGACAAGACTGCTCCTTTTTGCCGTATATAACAGACTCCTTCTCTCTCCAGATGCTCAGCCAGCATTGGGCAGCCCCCGCTTCCTGCTCCCCTACCCCCTTCACATGGCAGTAGTTCTGGGCACCCCAGCAAACCATATTATGCTCCAGGGTGA... | ATCCCCCTCCTCGTAGCGCATGGCTGCCTGGAGGCAGGTGAGAAGTTGGGGCCCTCTGTCTCCAGGCACACCTCTTTCCATCTCTGTATCCCTCAATCTGTGTCATTCTCCATGGGTTCCTGTCATTCTGTGGGCTTCCGTGCATCAGCCCCCTCCTGCCTAGGTAGGACAAGACTGCTCCTTTTTGCCGTATATAACAGACTCCTTCTCTCTCCAGATGCTCAGCCAGCATTGGGCAGCCCCCGCTTCCTGCTCCCCTACCCCCTTCACATGGCAGTAGTTCTGGGCACCCCAGCAAACCATATTATGCTCCAGGGTGA... | pathogenic | 263,440 |
Considering the genetic mutation at chromosome 17, position 7848540, impacting KDM6B (lysine demethylase 6B): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGTGAGGCTGGCACTGGGTGGGTTAGGGAGGAGAGCCAGGCTGTGCCTGCACCCGTGCCATTTTCTCTTCTCTCTTTTTGTTCTCAGCACAAACGGAACTATGGAGCCAAGCGGGGAGGTCCCCCGGTGAAGCGAGCTGCTGAACCCCCAGTGGTGCAGCCTGTGCCTCCTGCAGCACTCTCAGGCCCCTCAGGGGAGGAGGGCCTCAGCCCTGGAGGCAAGCGAAGGAGAGGCTGCAACTCTGAACAGGTGTGGGTATAGGGGGGCCAGCAGGCAGTAAGTAGGCAGGACTTGGGAATGGGATTCTCACACTCTCTTCT... | GGTGAGGCTGGCACTGGGTGGGTTAGGGAGGAGAGCCAGGCTGTGCCTGCACCCGTGCCATTTTCTCTTCTCTCTTTTTGTTCTCAGCACAAACGGAACTATGGAGCCAAGCGGGGAGGTCCCCCGGTGAAGCGAGCTGCTGAACCCCCAGTGGTGCAGCCTGTGCCTCCTGCAGCACTCTCAGGCCCCTCAGGGGAGGAGGGCCTCAGCCCTGGAGGCAAGCGAAGGAGAGGCTGCAACTCTGAACAGGTGTGGGTATAGGGGGGCCAGCAGGCAGTAAGTAGGCAGGACTTGGGAATGGGATTCTCACACTCTCTTCT... | benign | 263,449 |
For chromosome 17, position 7885025, gene CHD3: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GGGAGGAAGCTAGAGTAAGAAAGGGTCAACAAGAATGAAAGAGGGTAGAACTGAGCTATTTGCCCTCCTTCCTTTGCTCCATTTGGCAAGGATCATTTTCTGTCTAGACCTCTCTGGGCAAATCTCTGTATGAGAAAGCTACTTTGGGACTCCTTTCCAACTGTCCAATTCCTGGTACCACTTTACCATAAACACTGGGGTACAGTTGGAAATCACAGGTCAGAAAGTTAGATGAAAACGCCTGGGTATAACCCCTACCTCTGCTTTTTCTCAGTTCCAGCTCCTTTCTCTTTCACGGTACCTCAGTTGCTTCTACTTTA... | GGGAGGAAGCTAGAGTAAGAAAGGGTCAACAAGAATGAAAGAGGGTAGAACTGAGCTATTTGCCCTCCTTCCTTTGCTCCATTTGGCAAGGATCATTTTCTGTCTAGACCTCTCTGGGCAAATCTCTGTATGAGAAAGCTACTTTGGGACTCCTTTCCAACTGTCCAATTCCTGGTACCACTTTACCATAAACACTGGGGTACAGTTGGAAATCACAGGTCAGAAAGTTAGATGAAAACGCCTGGGTATAACCCCTACCTCTGCTTTTTCTCAGTTCCAGCTCCTTTCTCTTTCACGGTACCTCAGTTGCTTCTACTTTA... | benign | 263,466 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 7885025, gene CHD3. What disease(s) is it linked to if pathogenic? | benign | GGGAGGAAGCTAGAGTAAGAAAGGGTCAACAAGAATGAAAGAGGGTAGAACTGAGCTATTTGCCCTCCTTCCTTTGCTCCATTTGGCAAGGATCATTTTCTGTCTAGACCTCTCTGGGCAAATCTCTGTATGAGAAAGCTACTTTGGGACTCCTTTCCAACTGTCCAATTCCTGGTACCACTTTACCATAAACACTGGGGTACAGTTGGAAATCACAGGTCAGAAAGTTAGATGAAAACGCCTGGGTATAACCCCTACCTCTGCTTTTTCTCAGTTCCAGCTCCTTTCTCTTTCACGGTACCTCAGTTGCTTCTACTTTA... | GGGAGGAAGCTAGAGTAAGAAAGGGTCAACAAGAATGAAAGAGGGTAGAACTGAGCTATTTGCCCTCCTTCCTTTGCTCCATTTGGCAAGGATCATTTTCTGTCTAGACCTCTCTGGGCAAATCTCTGTATGAGAAAGCTACTTTGGGACTCCTTTCCAACTGTCCAATTCCTGGTACCACTTTACCATAAACACTGGGGTACAGTTGGAAATCACAGGTCAGAAAGTTAGATGAAAACGCCTGGGTATAACCCCTACCTCTGCTTTTTCTCAGTTCCAGCTCCTTTCTCTTTCACGGTACCTCAGTTGCTTCTACTTTA... | benign | 263,467 |
Is the genetic mutation found on chromosome 17 at position 7885046, within the gene CHD3, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AGGGTCAACAAGAATGAAAGAGGGTAGAACTGAGCTATTTGCCCTCCTTCCTTTGCTCCATTTGGCAAGGATCATTTTCTGTCTAGACCTCTCTGGGCAAATCTCTGTATGAGAAAGCTACTTTGGGACTCCTTTCCAACTGTCCAATTCCTGGTACCACTTTACCATAAACACTGGGGTACAGTTGGAAATCACAGGTCAGAAAGTTAGATGAAAACGCCTGGGTATAACCCCTACCTCTGCTTTTTCTCAGTTCCAGCTCCTTTCTCTTTCACGGTACCTCAGTTGCTTCTACTTTATCGGATAGTGTTGGAGATCAT... | AGGGTCAACAAGAATGAAAGAGGGTAGAACTGAGCTATTTGCCCTCCTTCCTTTGCTCCATTTGGCAAGGATCATTTTCTGTCTAGACCTCTCTGGGCAAATCTCTGTATGAGAAAGCTACTTTGGGACTCCTTTCCAACTGTCCAATTCCTGGTACCACTTTACCATAAACACTGGGGTACAGTTGGAAATCACAGGTCAGAAAGTTAGATGAAAACGCCTGGGTATAACCCCTACCTCTGCTTTTTCTCAGTTCCAGCTCCTTTCTCTTTCACGGTACCTCAGTTGCTTCTACTTTATCGGATAGTGTTGGAGATCAT... | benign | 263,468 |
Gene CHD3 variant at chromosome position 7885054 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CAAGAATGAAAGAGGGTAGAACTGAGCTATTTGCCCTCCTTCCTTTGCTCCATTTGGCAAGGATCATTTTCTGTCTAGACCTCTCTGGGCAAATCTCTGTATGAGAAAGCTACTTTGGGACTCCTTTCCAACTGTCCAATTCCTGGTACCACTTTACCATAAACACTGGGGTACAGTTGGAAATCACAGGTCAGAAAGTTAGATGAAAACGCCTGGGTATAACCCCTACCTCTGCTTTTTCTCAGTTCCAGCTCCTTTCTCTTTCACGGTACCTCAGTTGCTTCTACTTTATCGGATAGTGTTGGAGATCATGGAGGGAA... | CAAGAATGAAAGAGGGTAGAACTGAGCTATTTGCCCTCCTTCCTTTGCTCCATTTGGCAAGGATCATTTTCTGTCTAGACCTCTCTGGGCAAATCTCTGTATGAGAAAGCTACTTTGGGACTCCTTTCCAACTGTCCAATTCCTGGTACCACTTTACCATAAACACTGGGGTACAGTTGGAAATCACAGGTCAGAAAGTTAGATGAAAACGCCTGGGTATAACCCCTACCTCTGCTTTTTCTCAGTTCCAGCTCCTTTCTCTTTCACGGTACCTCAGTTGCTTCTACTTTATCGGATAGTGTTGGAGATCATGGAGGGAA... | benign | 263,469 |
Variant on chromosome 17, at position 7895446, affecting CHD3 (chromodomain helicase DNA binding protein 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases'] | GCTGTGGCGGCGGCAGCGGCAGCAGCAGCAGCAGCTGTAGCTGAGCAGGTGTCAGCTGCTGTCTCGTCGGCCACCCCCATAGCACCCTCCGGACCCCCCGCCCTTCCACCACCCCCTGCTGCTGATATCCAGCCCCCACCCATCCGAAGAGCCAAAACCAAAGAGGGCAAAGGTAGGGAACTCTCTTCCAACAACTGTCATCTCACCTTCCAAACTGCATGTCTTCACATTAGAGTCTGGAACTCTCGCCTTCCCAGCCCTGATTGCTGGAGGAGAGATGCTTTCCAGGAAGTGGGGCTTAGTGAAACCACAGCCCACAG... | GCTGTGGCGGCGGCAGCGGCAGCAGCAGCAGCAGCTGTAGCTGAGCAGGTGTCAGCTGCTGTCTCGTCGGCCACCCCCATAGCACCCTCCGGACCCCCCGCCCTTCCACCACCCCCTGCTGCTGATATCCAGCCCCCACCCATCCGAAGAGCCAAAACCAAAGAGGGCAAAGGTAGGGAACTCTCTTCCAACAACTGTCATCTCACCTTCCAAACTGCATGTCTTCACATTAGAGTCTGGAACTCTCGCCTTCCCAGCCCTGATTGCTGGAGGAGAGATGCTTTCCAGGAAGTGGGGCTTAGTGAAACCACAGCCCACAG... | pathogenic | 263,475 |
Variant on chromosome 17, at position 8003125, affecting GUCY2D (guanylate cyclase 2D, retinal): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['GUCY2D-related_recessive_retinopathy'] | CGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTA... | CGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTA... | pathogenic | 263,506 |
Is the genetic change at chromosome 17, position 8003133, within gene GUCY2D (guanylate cyclase 2D, retinal) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cone-rod_dystrophy_6', 'GUCY2D-related_recessive_retinopathy', 'Leber_congenital_amaurosis_1'] | ATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTT... | ATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTT... | pathogenic | 263,507 |
Variant in gene GUCY2D (guanylate cyclase 2D, retinal), located at chromosome 17 position 8003170: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGA... | CTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGA... | benign | 263,508 |
Is the genetic mutation found on chromosome 17 at position 8003272, within the gene GUCY2D (guanylate cyclase 2D, retinal), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['GUCY2D-related_recessive_retinopathy', 'Leber_congenital_amaurosis_1'] | CTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAG... | CTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAG... | pathogenic | 263,511 |
For chromosome 17, position 8003433, gene GUCY2D (guanylate cyclase 2D, retinal): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Choroidal_dystrophy,_central_areolar,_1', 'Cone-rod_dystrophy_6', 'GUCY2D-related_recessive_retinopathy', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_1', 'Night_blindness,_congenital_stationary,_type1i'] | ATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAAT... | ATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAAT... | pathogenic | 263,515 |
Gene mutation in GUCY2D (guanylate cyclase 2D, retinal) at chromosome 17, position 8003736—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cone-rod_dystrophy_6', 'Leber_congenital_amaurosis_1'] | TGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCA... | TGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCA... | pathogenic | 263,519 |
Determine if the mutation at chromosome 17, position 8003855 in gene GUCY2D (guanylate cyclase 2D, retinal) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['GUCY2D-related_recessive_retinopathy'] | GCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAG... | GCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAG... | pathogenic | 263,521 |
Variant at chromosome position 8003954, chromosome 17, gene GUCY2D (guanylate cyclase 2D, retinal): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Leber_congenital_amaurosis_1'] | AATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTG... | AATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTG... | pathogenic | 263,526 |
Evaluate the clinical significance of the mutation at chromosome 17, position 8004043 in gene GUCY2D (guanylate cyclase 2D, retinal): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cone-rod_dystrophy_6', 'Leber_congenital_amaurosis_1'] | ACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCA... | ACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCA... | pathogenic | 263,529 |
Regarding the variant found on chromosome 17 at position 8006576 in gene GUCY2D (guanylate cyclase 2D, retinal): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cone-rod_dystrophy_6', 'GUCY2D-related_recessive_retinopathy', 'Leber_congenital_amaurosis_1'] | TCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGT... | TCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGT... | pathogenic | 263,538 |
The genetic variant at chromosome 17, position 8007107, affecting gene GUCY2D (guanylate cyclase 2D, retinal): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cone-rod_dystrophy_6', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_1', 'Retinal_dystrophy'] | ACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCTGAGCGTGTGAGTCACCCTTGATTCCTTGAATTCTTCGCCCCCACTTCCAGGCATCAAGCCCTGTTACTGTTACTTCCTAAAGATCATTCGAATTCATCCGCTTTCTCCATCTTTACTGTCACTGCCCTGATTCAGGCCACAGCACCCCCAGCCCAAATCCCAAAACATAATCTCTCAGATGGTCTCTGCTTCAACACTCACCTGCCCAACACCTTTCTCCAGATCAAGCTTCAGAAATCTGACAGATCTCACCCTGTCATGCCCCTGTTCAAAGCCTCACA... | ACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCTGAGCGTGTGAGTCACCCTTGATTCCTTGAATTCTTCGCCCCCACTTCCAGGCATCAAGCCCTGTTACTGTTACTTCCTAAAGATCATTCGAATTCATCCGCTTTCTCCATCTTTACTGTCACTGCCCTGATTCAGGCCACAGCACCCCCAGCCCAAATCCCAAAACATAATCTCTCAGATGGTCTCTGCTTCAACACTCACCTGCCCAACACCTTTCTCCAGATCAAGCTTCAGAAATCTGACAGATCTCACCCTGTCATGCCCCTGTTCAAAGCCTCACA... | pathogenic | 263,542 |
Is the genetic variant on chromosome 17, position 8012166, gene GUCY2D (guanylate cyclase 2D, retinal), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cone-rod_dystrophy_6', 'Leber_congenital_amaurosis_1'] | CTCTCTCGCTGGACTGTAAGCTGAGTGAGGGCCTCCTCACTCCCCTCCATTGTAATCAAGCACCCAACACAGTGTCTGGAACATTAGAGAGACCCAGTGAATGTTTGTTGATCTAATGATAGAAAATAAAAAATGAGTTTCCGGTTCTGTCAGGCCACTTGTGCAGAATAGCCCTGGACATTCTGAATGAAGTGCAAAGTTGGCAAGGAGGCTGTAAATGGCTTATTCTGGTCCTTACAACCTTAATGTCTCCCTTTATCTCCATGCCATGCAGCCTGGGCCTGGCCTTCTTCCCTGATTCCTCTACAGGAGCTCTTGGT... | CTCTCTCGCTGGACTGTAAGCTGAGTGAGGGCCTCCTCACTCCCCTCCATTGTAATCAAGCACCCAACACAGTGTCTGGAACATTAGAGAGACCCAGTGAATGTTTGTTGATCTAATGATAGAAAATAAAAAATGAGTTTCCGGTTCTGTCAGGCCACTTGTGCAGAATAGCCCTGGACATTCTGAATGAAGTGCAAAGTTGGCAAGGAGGCTGTAAATGGCTTATTCTGGTCCTTACAACCTTAATGTCTCCCTTTATCTCCATGCCATGCAGCCTGGGCCTGGCCTTCTTCCCTGATTCCTCTACAGGAGCTCTTGGT... | pathogenic | 263,552 |
Variant in gene GUCY2D (guanylate cyclase 2D, retinal), located at chromosome 17 position 8013198: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Leber_congenital_amaurosis_1'] | GGATGGACCACCTGAGGTCAGGAGTTCGAGACCAGACTGGCCAACATAGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCACACACCTGTAATCCCAGCTATTCGGGAGGCTGAGACGGGAGAATCGCTTGAGCTCAGGATGCGGAGGTTGCAGTGACCCGAGATTGCACGACTGCAATCCAGCCTGGGTGACAGAGTAAGAATCTGTCTAAAAAAAAAATACATAAACAAAAGAAAAGAAAGAAAGTGGCACCGCTCCTCCCTGGCTCTCCCAGCAAAGGCTGTTAAATCAGGAGAGGATG... | GGATGGACCACCTGAGGTCAGGAGTTCGAGACCAGACTGGCCAACATAGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCACACACCTGTAATCCCAGCTATTCGGGAGGCTGAGACGGGAGAATCGCTTGAGCTCAGGATGCGGAGGTTGCAGTGACCCGAGATTGCACGACTGCAATCCAGCCTGGGTGACAGAGTAAGAATCTGTCTAAAAAAAAAATACATAAACAAAAGAAAAGAAAGAAAGTGGCACCGCTCCTCCCTGGCTCTCCCAGCAAAGGCTGTTAAATCAGGAGAGGATG... | pathogenic | 263,561 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 8013901, gene GUCY2D (guanylate cyclase 2D, retinal): what disease(s) if pathogenic? | pathogenic; ['Choroidal_dystrophy,_central_areolar,_1', 'Cone-rod_dystrophy_6', 'Leber_congenital_amaurosis_1', 'Night_blindness,_congenital_stationary,_type1i', 'Retinal_dystrophy'] | AAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAAAGTTGTCTTTTCATTCACAGCATTAGGCTAAACCATACTCAGTATCCAAACAGTGGCCTTTGACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGC... | AAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAAAGTTGTCTTTTCATTCACAGCATTAGGCTAAACCATACTCAGTATCCAAACAGTGGCCTTTGACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGC... | pathogenic | 263,563 |
Regarding the variant found on chromosome 17 at position 8014703 in gene GUCY2D (guanylate cyclase 2D, retinal): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cone-rod_dystrophy_6', 'GUCY2D-related_recessive_retinopathy', 'Leber_congenital_amaurosis_1'] | CAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGG... | CAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGG... | pathogenic | 263,573 |
Variant at chromosome position 8014876, chromosome 17, gene GUCY2D (guanylate cyclase 2D, retinal): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Choroidal_dystrophy,_central_areolar,_1', 'Cone-rod_dystrophy_6', 'GUCY2D-related_disorder', 'GUCY2D-related_recessive_retinopathy', 'Leber_congenital_amaurosis_1', 'Night_blindness,_congenital_stationary,_type1i'] | CAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGG... | CAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGG... | pathogenic | 263,580 |
The mutation in gene GUCY2D (guanylate cyclase 2D, retinal) at chromosome 17, position 8014914—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['GUCY2D-related_recessive_retinopathy'] | GCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTG... | GCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTG... | pathogenic | 263,582 |
Evaluate this variant at chromosome 17, position 8014928, gene GUCY2D (guanylate cyclase 2D, retinal): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cone-rod_dystrophy_6', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_1', 'Retinal_dystrophy'] | GACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCA... | GACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCA... | pathogenic | 263,584 |
Considering the genetic mutation at chromosome 17, position 8015455, impacting GUCY2D (guanylate cyclase 2D, retinal): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cone-rod_dystrophy_6', 'Leber_congenital_amaurosis_1', 'Retinal_dystrophy'] | AAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATAC... | AAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATAC... | pathogenic | 263,590 |
Regarding the variant found on chromosome 17 at position 8015500 in gene GUCY2D (guanylate cyclase 2D, retinal): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cone-rod_dystrophy_6', 'GUCY2D-related_disorder', 'GUCY2D-related_recessive_retinopathy', 'Leber_congenital_amaurosis_1', 'Optic_atrophy', 'Retinal_dystrophy'] | GACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCC... | GACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCC... | pathogenic | 263,593 |
Does the chromosome 17 mutation at position 8015960 within gene GUCY2D (guanylate cyclase 2D, retinal) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['GUCY2D-related_recessive_retinopathy'] | CTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTT... | CTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTT... | pathogenic | 263,601 |
Mutation found at chromosome 17 position 8075622, gene ALOX12B (arachidonate 12-lipoxygenase, 12R type): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_2'] | GGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCT... | GGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCT... | pathogenic | 263,621 |
Clinically, how would you classify the variant at chromosome 17, position 8076668, gene ALOX12B (arachidonate 12-lipoxygenase, 12R type): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_2'] | CCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCC... | CCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCC... | pathogenic | 263,629 |
For chromosome 17, position 8076992, gene ALOX12B (arachidonate 12-lipoxygenase, 12R type): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_2', 'Lamellar_ichthyosis'] | AGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTC... | AGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTC... | pathogenic | 263,631 |
Does the variant on chromosome 17 at location 8077106 affecting gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_2'] | AAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGA... | AAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGA... | pathogenic | 263,636 |
The mutation in gene ALOX12B at chromosome 17, position 8079896—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_2'] | CACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAG... | CACATATACATGCACACACTCACAGATGCACACACATAGGGGCATACAAGTACAGCTGGCCCTCCGTATCCATGGGTTCCACACCAGTGGATTCCACCAGCAACAGATGGAAAATATTCTGGGAGAAAAAGTGTCTCTACTGAACGTGTACAGACTTTTTTTCCTTGTCATTCCCTAAACAATACAGTGTAACAACTATCTACATAGCATTTACATTGTATTGTATTGGGTACTATAAGAAATCCAGAAAGGATCTATTTTATTTCATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAG... | pathogenic | 263,642 |
Assess the variant on chromosome 17, position 8086075, impacting ALOX12B (arachidonate 12-lipoxygenase, 12R type): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic | ACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCT... | ACTCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCT... | pathogenic | 263,653 |
Located at chromosome 17 position 8086125, the variant affecting gene ALOX12B (arachidonate 12-lipoxygenase, 12R type)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic | GAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAG... | GAACCTGGAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAATTTGAAAATATGCCCAAATGTCCAGCTAGTCAGTGGAAGAACTGAGACCTAAGTCCAGGTCCGTCTTTCTCCAGCACCCTGGCTGGTGGTCCCCAGGCTGGCCTGTGCCTACCGCTGCAGCCCATCATTTCCCCTCAAGTCCCTTACCTCACCACCCTCTCCCTCCTCCACCTGCCTCAGCTCATGTTGTATTCTGGATGAACAGTGCTCCCTGGAGTTGTGCAACCCAGAG... | pathogenic | 263,655 |
Variant in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), located at chromosome 17 position 8087235: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | AAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGA... | AAAAAATGCTCAATTAGAAAACTGGGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACAAAGTGAAACCCCATCTCTACTAAAAATGCAAAAACTAGCATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAAGCCAGGGCGTCATAATTATAAGACCGCAGCACCACGGAGACCTGTTGA... | benign | 263,657 |
Determine whether the variant at chromosome 17, position 8110076, in gene ALOXE3 (arachidonate epidermal lipoxygenase 3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAGAGGTTGGTGGCTGGAGGGGCCACGTGGCAGGACAGGAAGGAGGGTTTGAGAGAAAGTTCCCAGAATCCTCTGAAGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTT... | AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAGAGGTTGGTGGCTGGAGGGGCCACGTGGCAGGACAGGAAGGAGGGTTTGAGAGAAAGTTCCCAGAATCCTCTGAAGTCAGAGATGGCTCCCACTGCACGTTGCAGAATATTGACAGAGCTCAGGAAGCTGAAATGAATGGGTGGGCTTGTGGAAAGGTCAAGGGACCAGAGGGGCACAGAGCAGTGGATGCAGCAATGGCTTTGGAGACAGTCGGAGCTGGCTCGGAACCCGCCTTGCACAGCCTTCTTTGTGCCTCTTTCCATATCTGCTAGTT... | benign | 263,686 |
Assess the variant on chromosome 17, position 8173539, impacting TMEM107: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | AGAAGAGAAAATGGTGGTGCTATTACCAGAAAGAAAGGATGGATACTGAACTGGCAAAAACAGATGTCTACTATGATGGGAGAATCCCAAGACCCAGTCAACTCAGGGAAAAGACACTGAGCAGTTACCACAGGCCTGACACTCTGCTACCCTTCTCCCCTGACAGACAGCAGTGGCCGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGCGGAGGTTGCAGATCGCGCCACTGCACCCTAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAGTGT... | AGAAGAGAAAATGGTGGTGCTATTACCAGAAAGAAAGGATGGATACTGAACTGGCAAAAACAGATGTCTACTATGATGGGAGAATCCCAAGACCCAGTCAACTCAGGGAAAAGACACTGAGCAGTTACCACAGGCCTGACACTCTGCTACCCTTCTCCCCTGACAGACAGCAGTGGCCGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGCGGAGGTTGCAGATCGCGCCACTGCACCCTAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAGTGT... | benign | 263,739 |
Variant chromosome 17, position 8229438, gene CTC1 (CST telomere replication complex component 1): benign or pathogenic? Disease(s)? | pathogenic; ['CTC1-related_disorder', 'Cerebroretinal_microangiopathy_with_calcifications_and_cysts_1', 'Coats_plus_syndrome', 'Dyskeratosis_congenita'] | GATCTGCCTTAGGCCAGGCCCTTGGGAAACCTACAGGGCTAACCGTAGCCTGGGGCCCTATAGCACAGTCACCCAGAGTCCTCACCTGCCCCTGCTTGTGCCTGGCACTTGCCTCCCCCTACACCTTCTTTGTGCTTGTGAACACCTCTAGGCATTCATATTTGACTTCCTGCAGGGCCCAGCCTTACTGACTGAGACCATCATAGCTATGCTCTCTGCCTTGCCGCCAACTCCCCAATTTACTTCCTTTACAGACTGATTTTGGTACCATTTCTTCTGCTGGACGAAAAGCTCTTCTCTTCCAAATCACTTTCCACCTT... | GATCTGCCTTAGGCCAGGCCCTTGGGAAACCTACAGGGCTAACCGTAGCCTGGGGCCCTATAGCACAGTCACCCAGAGTCCTCACCTGCCCCTGCTTGTGCCTGGCACTTGCCTCCCCCTACACCTTCTTTGTGCTTGTGAACACCTCTAGGCATTCATATTTGACTTCCTGCAGGGCCCAGCCTTACTGACTGAGACCATCATAGCTATGCTCTCTGCCTTGCCGCCAACTCCCCAATTTACTTCCTTTACAGACTGATTTTGGTACCATTTCTTCTGCTGGACGAAAAGCTCTTCTCTTCCAAATCACTTTCCACCTT... | pathogenic | 263,778 |
Is the genetic mutation found on chromosome 17 at position 8229945, within the gene CTC1 (CST telomere replication complex component 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cerebroretinal_microangiopathy_with_calcifications_and_cysts_1', 'Coats_plus_syndrome', 'Dyskeratosis_congenita'] | AGCTCCTGCGACAAAGTCAGAACCCAGGTGCTCAGGGCCGCCTGTGAATGCAGGTGCCTTGTCCCAATCAGAGGACATATTAATAGGGCCATGATTTCCTGTTGCCACAATTTTGCCAAGGCAGGCTGGCACCAGAACACCAAAGAAGGGAAATTATAGTGGAGTAGCAGTTTGTGAATCTGGAGTCCTTGGTTCAATCACAGAACAAGTAGGGAGAGGAGCCAGGACCTAGGCCTTCAGGTTTTCAGCAAGGAAGGACTCTCAGGCCATCCTTGCAGTTCAGTTAACAGGAGGAAGCAAGGATCCCCAGAGAGCTGGAG... | AGCTCCTGCGACAAAGTCAGAACCCAGGTGCTCAGGGCCGCCTGTGAATGCAGGTGCCTTGTCCCAATCAGAGGACATATTAATAGGGCCATGATTTCCTGTTGCCACAATTTTGCCAAGGCAGGCTGGCACCAGAACACCAAAGAAGGGAAATTATAGTGGAGTAGCAGTTTGTGAATCTGGAGTCCTTGGTTCAATCACAGAACAAGTAGGGAGAGGAGCCAGGACCTAGGCCTTCAGGTTTTCAGCAAGGAAGGACTCTCAGGCCATCCTTGCAGTTCAGTTAACAGGAGGAAGCAAGGATCCCCAGAGAGCTGGAG... | pathogenic | 263,783 |
Regarding the variant at chromosome 17 and position 8230395, affecting gene CTC1 (CST telomere replication complex component 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cerebroretinal_microangiopathy_with_calcifications_and_cysts_1', 'Dyskeratosis_congenita'] | CGTCTCAGGCATGTGGCTTTTAGTTCCCACCCACCATTCTCCTCCCTAACTCCAGAAATTCCCCATCAGTCCCTCATCCCTCTTCCTCCCAGGGACCCATCTATCTCTATCACCATGATCCCCCTATCATCATGATCCCCCCGTCTCCAACCTTACCTAATGGGACGATCTTCGACGGTTTCCTTTCCAGCTCAAAAGAAAGCACAATAGGACGGAGGACAGAGGGGCTAGTACAAAGTGTCCAGAGGAACATGGTCATGGGCTCGTCAACCCTGGCTGAAGACTAGAAAGAGAAGGTCAAGGTTAACTGGCTCCTAAAC... | CGTCTCAGGCATGTGGCTTTTAGTTCCCACCCACCATTCTCCTCCCTAACTCCAGAAATTCCCCATCAGTCCCTCATCCCTCTTCCTCCCAGGGACCCATCTATCTCTATCACCATGATCCCCCTATCATCATGATCCCCCCGTCTCCAACCTTACCTAATGGGACGATCTTCGACGGTTTCCTTTCCAGCTCAAAAGAAAGCACAATAGGACGGAGGACAGAGGGGCTAGTACAAAGTGTCCAGAGGAACATGGTCATGGGCTCGTCAACCCTGGCTGAAGACTAGAAAGAGAAGGTCAAGGTTAACTGGCTCCTAAAC... | pathogenic | 263,784 |
A genetic variant on chromosome 17, position 8230395, affects the gene CTC1 (CST telomere replication complex component 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['CTC1-related_disorder', 'Cerebroretinal_microangiopathy_with_calcifications_and_cysts_1', 'Coats_plus_syndrome', 'Dyskeratosis_congenita'] | CGTCTCAGGCATGTGGCTTTTAGTTCCCACCCACCATTCTCCTCCCTAACTCCAGAAATTCCCCATCAGTCCCTCATCCCTCTTCCTCCCAGGGACCCATCTATCTCTATCACCATGATCCCCCTATCATCATGATCCCCCCGTCTCCAACCTTACCTAATGGGACGATCTTCGACGGTTTCCTTTCCAGCTCAAAAGAAAGCACAATAGGACGGAGGACAGAGGGGCTAGTACAAAGTGTCCAGAGGAACATGGTCATGGGCTCGTCAACCCTGGCTGAAGACTAGAAAGAGAAGGTCAAGGTTAACTGGCTCCTAAAC... | CGTCTCAGGCATGTGGCTTTTAGTTCCCACCCACCATTCTCCTCCCTAACTCCAGAAATTCCCCATCAGTCCCTCATCCCTCTTCCTCCCAGGGACCCATCTATCTCTATCACCATGATCCCCCTATCATCATGATCCCCCCGTCTCCAACCTTACCTAATGGGACGATCTTCGACGGTTTCCTTTCCAGCTCAAAAGAAAGCACAATAGGACGGAGGACAGAGGGGCTAGTACAAAGTGTCCAGAGGAACATGGTCATGGGCTCGTCAACCCTGGCTGAAGACTAGAAAGAGAAGGTCAAGGTTAACTGGCTCCTAAAC... | pathogenic | 263,785 |
Evaluate if the mutation on chromosome 17 at position 8234589 in CTC1 (CST telomere replication complex component 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cerebroretinal_microangiopathy_with_calcifications_and_cysts_1', 'Dyskeratosis_congenita', 'Inborn_genetic_diseases'] | CATCCTACCGGCCTCACTACCCATCCCAGGCCAGAGCTGCTGCCCTCACATGACATGAAAGCCCACACCTGACCCCCACCTTAGAGGGGTGACACCTTCTCTCCAAACTAAGAATGTAGGAGACACAGTTGTAATCCTGGAGTGCATGTTAGGAGCTACGGTGGAGAAATGCATGCTGGAAATTCTGGCTAGGGGTCCTCTTGCTCCTGTTCTCTGCCTGCCATACAAGTCTCCCAGAAGTTGTTGATTGACATGTGTCACTTCTGCATCTCTAGTAAATCCCAGCAGGCTTTTCCTCCCAGGCTCCCCTGGCTATGAGA... | CATCCTACCGGCCTCACTACCCATCCCAGGCCAGAGCTGCTGCCCTCACATGACATGAAAGCCCACACCTGACCCCCACCTTAGAGGGGTGACACCTTCTCTCCAAACTAAGAATGTAGGAGACACAGTTGTAATCCTGGAGTGCATGTTAGGAGCTACGGTGGAGAAATGCATGCTGGAAATTCTGGCTAGGGGTCCTCTTGCTCCTGTTCTCTGCCTGCCATACAAGTCTCCCAGAAGTTGTTGATTGACATGTGTCACTTCTGCATCTCTAGTAAATCCCAGCAGGCTTTTCCTCCCAGGCTCCCCTGGCTATGAGA... | pathogenic | 263,814 |
Clinical significance of chromosome 17, position 8235131, gene CTC1 (CST telomere replication complex component 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cerebroretinal_microangiopathy_with_calcifications_and_cysts_1', 'Dyskeratosis_congenita'] | AGCATCTACTATTTGCCAGATGCTGTATTACATGGTAAAGCTACAAAATGAACAAAAAAGACACGTCTCTGGCTTCAAAAAACTTATATTCAAGTGGGGAAGACAGACATAAAAAAACACACACGCATTCACACATTTAGTAGGAGAAGAGAAAGCGCACAAATAGAGGTTACAGGTAAGAGGCCATGCGGGATCTCACAGGACACAATGAGACGTTTGATTTTACTTTATATGCACTGGGAGGCACGCAAAGAATTTAAGCTGGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGAAGGA... | AGCATCTACTATTTGCCAGATGCTGTATTACATGGTAAAGCTACAAAATGAACAAAAAAGACACGTCTCTGGCTTCAAAAAACTTATATTCAAGTGGGGAAGACAGACATAAAAAAACACACACGCATTCACACATTTAGTAGGAGAAGAGAAAGCGCACAAATAGAGGTTACAGGTAAGAGGCCATGCGGGATCTCACAGGACACAATGAGACGTTTGATTTTACTTTATATGCACTGGGAGGCACGCAAAGAATTTAAGCTGGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGAAGGA... | pathogenic | 263,823 |
Clinically, how would you classify the variant at chromosome 17, position 8235278, gene CTC1 (CST telomere replication complex component 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cerebroretinal_microangiopathy_with_calcifications_and_cysts_1', 'Coats_plus_syndrome', 'Dyskeratosis_congenita'] | AGAGAAAGCGCACAAATAGAGGTTACAGGTAAGAGGCCATGCGGGATCTCACAGGACACAATGAGACGTTTGATTTTACTTTATATGCACTGGGAGGCACGCAAAGAATTTAAGCTGGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGAAGGATCACTTGAGCTCAGGAGGTGGAGATCAGCCTGGCAACATAGTGAGACCCCATCTCTAAAAATTAAAAAGTGTAAAAATTAACCCAGGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATC... | AGAGAAAGCGCACAAATAGAGGTTACAGGTAAGAGGCCATGCGGGATCTCACAGGACACAATGAGACGTTTGATTTTACTTTATATGCACTGGGAGGCACGCAAAGAATTTAAGCTGGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGAAGGATCACTTGAGCTCAGGAGGTGGAGATCAGCCTGGCAACATAGTGAGACCCCATCTCTAAAAATTAAAAAGTGTAAAAATTAACCCAGGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATC... | pathogenic | 263,827 |
Variant at chromosome 17, position 8236060, gene CTC1 (CST telomere replication complex component 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cerebroretinal_microangiopathy_with_calcifications_and_cysts_1', 'Dyskeratosis_congenita'] | TCTTGCTCTGTTGCCCCGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTATACTCTTGATCTCTCAGGCTCAAGCAATCCTACCTCAGCCTCCTGAGTAGCTGGGACCATAGGCACATGCCACCGCACCTAATTAAGACAACTTTTTTGTAGCAACAAGGTCTCTCTACCCAGGCTGGTCTCAAACTCTTGGGCTCCAGTGATCCTCATGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCATATCCCCATTTCTAGTTGCTGCAGAGAGAATGAATTGGAGGGCCAACAACAGATGAA... | TCTTGCTCTGTTGCCCCGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTATACTCTTGATCTCTCAGGCTCAAGCAATCCTACCTCAGCCTCCTGAGTAGCTGGGACCATAGGCACATGCCACCGCACCTAATTAAGACAACTTTTTTGTAGCAACAAGGTCTCTCTACCCAGGCTGGTCTCAAACTCTTGGGCTCCAGTGATCCTCATGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCATATCCCCATTTCTAGTTGCTGCAGAGAGAATGAATTGGAGGGCCAACAACAGATGAA... | pathogenic | 263,832 |
A genetic alteration at chromosome 17, position 8237439, in gene CTC1 (CST telomere replication complex component 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['CTC1-related_disorder', 'Cerebroretinal_microangiopathy_with_calcifications_and_cysts_1', 'Dyskeratosis_congenita', 'Inborn_genetic_diseases'] | GAAAGCAATTTCTCCCACGTGGGCTGGCCTCACTTTCCATTACAACCCACTCCCGCTGCGGTCAGCCTTCATCTCCCATGAGCTCCACTCAGTCTTGCTGTGGGCTGGGTGGCTCCTGGATGAACAGACATGGCTGAGGCTTCTCACCGGGTCGCCTGAGATCACCCCAGCCCCAGATCTGTGCTTCAGCTATCTCCTCCTCCAGCTGAAAGGCCCTTCTGTGAAGGAGATGCTCTGGCCACAACTCCTCCTCACAGTGCCCAAGACTCTACTCCTTTTTATTTAAGCTTCTGTCCAAGTTATCCTTAGCAAAAGTGCCC... | GAAAGCAATTTCTCCCACGTGGGCTGGCCTCACTTTCCATTACAACCCACTCCCGCTGCGGTCAGCCTTCATCTCCCATGAGCTCCACTCAGTCTTGCTGTGGGCTGGGTGGCTCCTGGATGAACAGACATGGCTGAGGCTTCTCACCGGGTCGCCTGAGATCACCCCAGCCCCAGATCTGTGCTTCAGCTATCTCCTCCTCCAGCTGAAAGGCCCTTCTGTGAAGGAGATGCTCTGGCCACAACTCCTCCTCACAGTGCCCAAGACTCTACTCCTTTTTATTTAAGCTTCTGTCCAAGTTATCCTTAGCAAAAGTGCCC... | pathogenic | 263,842 |
Chromosome 17, position 8238454, gene CTC1 (CST telomere replication complex component 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cerebroretinal_microangiopathy_with_calcifications_and_cysts_1'] | CCTTTTCCCTCACGATTTGAACTCAGAGACCTGCCCTCTGTGAGTCTCAACTCACCTCTCCATCTTCCCTATGTCTGCCAACTAAATCTTAGCGTCTCTCCTCTCTCACAGGAGATGCCAAATATTTCCAAACCACTTCCCCAACATACAAACCATCCCTAAAACTTCCTTCAAAATACATAAATATTCCACTGAGAAAACTGTGCCCTATCCCGCCCCATAACACACAAACAACATTCATTCATGTAATCAAAGTGTATTGAGTATATATGTATCCAGTATTGTGACTGATGTCAAGGGAAGTATGACAAACTGTTCTT... | CCTTTTCCCTCACGATTTGAACTCAGAGACCTGCCCTCTGTGAGTCTCAACTCACCTCTCCATCTTCCCTATGTCTGCCAACTAAATCTTAGCGTCTCTCCTCTCTCACAGGAGATGCCAAATATTTCCAAACCACTTCCCCAACATACAAACCATCCCTAAAACTTCCTTCAAAATACATAAATATTCCACTGAGAAAACTGTGCCCTATCCCGCCCCATAACACACAAACAACATTCATTCATGTAATCAAAGTGTATTGAGTATATATGTATCCAGTATTGTGACTGATGTCAAGGGAAGTATGACAAACTGTTCTT... | pathogenic | 263,851 |
The chromosome 17, position 8238575 genetic variant in gene CTC1 (CST telomere replication complex component 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cerebroretinal_microangiopathy_with_calcifications_and_cysts_1', 'Dyskeratosis_congenita'] | ATATTTCCAAACCACTTCCCCAACATACAAACCATCCCTAAAACTTCCTTCAAAATACATAAATATTCCACTGAGAAAACTGTGCCCTATCCCGCCCCATAACACACAAACAACATTCATTCATGTAATCAAAGTGTATTGAGTATATATGTATCCAGTATTGTGACTGATGTCAAGGGAAGTATGACAAACTGTTCTTCTCTAACACAGTAAGGCCCTATTTCTACAAAATACATATATTTTTAAAATTTCTATAAAAAGGAAAAGAAACATTATTCAGAAACTTATATGTCATAAAACAATGGTTAGAATAAAGATCA... | ATATTTCCAAACCACTTCCCCAACATACAAACCATCCCTAAAACTTCCTTCAAAATACATAAATATTCCACTGAGAAAACTGTGCCCTATCCCGCCCCATAACACACAAACAACATTCATTCATGTAATCAAAGTGTATTGAGTATATATGTATCCAGTATTGTGACTGATGTCAAGGGAAGTATGACAAACTGTTCTTCTCTAACACAGTAAGGCCCTATTTCTACAAAATACATATATTTTTAAAATTTCTATAAAAAGGAAAAGAAACATTATTCAGAAACTTATATGTCATAAAACAATGGTTAGAATAAAGATCA... | pathogenic | 263,854 |
Located at chromosome 17 position 8243047, the variant affecting gene CTC1 (CST telomere replication complex component 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cerebroretinal_microangiopathy_with_calcifications_and_cysts_1'] | ACACTATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTGCAAAAATACAAAAACTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTTCTTGGTAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCAGAACTTGCAGTGAGCCGAGATGATGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAACAAACAAAAAAAGAAGTATAATGTT... | ACACTATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTGCAAAAATACAAAAACTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTTCTTGGTAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCAGAACTTGCAGTGAGCCGAGATGATGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAACAAACAAAAAAAGAAGTATAATGTT... | pathogenic | 263,861 |
The genetic variant at chromosome 17, position 8248097, affecting gene CTC1: benign or pathogenic? Disease name(s) if pathogenic? | benign | TAGCTGGGTTAGCCTGGCGTGGTAGCACACGCCAGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGAGGTTGAGGCTGCAGTGAGCCATGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGTAAGACCTTGTTTCAAAAAAAAAAAAAAAAAAAAAAAGGAGGGAGGAAGAGGAAGATCCAGATTAATACAGGCTGAAGTTTAAGAACACAATATGCTTTCCCACAATTATCTCAACCACTGCATGGGTTTAACAGCCATGGCCAGATGATGATTGTTCCTGTATGTCTACTTTAGC... | TAGCTGGGTTAGCCTGGCGTGGTAGCACACGCCAGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGAGGTTGAGGCTGCAGTGAGCCATGATGGTGCCACTGCACTCTAGCCTGGGTGACAGAGTAAGACCTTGTTTCAAAAAAAAAAAAAAAAAAAAAAAGGAGGGAGGAAGAGGAAGATCCAGATTAATACAGGCTGAAGTTTAAGAACACAATATGCTTTCCCACAATTATCTCAACCACTGCATGGGTTTAACAGCCATGGCCAGATGATGATTGTTCCTGTATGTCTACTTTAGC... | benign | 263,869 |
The chromosome 17, position 8382329 genetic variant in gene RPL26 (ribosomal protein L26): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CAGATTCTTCTTCCCAGTTTGTGACTTTCTTGCATTGGTATGTATTGAAAACAGAGATGACAGTTTTCAAGGTCTACTGGCAAGTTTAGCACTACTGCAGCAGGGACCAACGGCTGTTCTCAACCCACACTGCTTGTTTGGGAACCCATTTCATCTTTTTGAAATAGGCATGAAAAAATATTGATGGTGTGTATGTAAATGGCTTTAGAGACTGCCTGAATTCTTTAATCACTAGCTGCACTACAGATTACACCTAAGGGTCATTTATAGAAACCTTCACCTAAATAGATGCAACAAATTATTTACCTGTAAGTGCAAAC... | CAGATTCTTCTTCCCAGTTTGTGACTTTCTTGCATTGGTATGTATTGAAAACAGAGATGACAGTTTTCAAGGTCTACTGGCAAGTTTAGCACTACTGCAGCAGGGACCAACGGCTGTTCTCAACCCACACTGCTTGTTTGGGAACCCATTTCATCTTTTTGAAATAGGCATGAAAAAATATTGATGGTGTGTATGTAAATGGCTTTAGAGACTGCCTGAATTCTTTAATCACTAGCTGCACTACAGATTACACCTAAGGGTCATTTATAGAAACCTTCACCTAAATAGATGCAACAAATTATTTACCTGTAAGTGCAAAC... | benign | 263,930 |
Variant on chromosome 17, at position 10523165, affecting MYH2: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Myopathy,_proximal,_and_ophthalmoplegia'] | GGAAAGAGAAAAGACAAGACCAGTCTAAGGATATTGTTTGCAAACTACCCTATGCTTTATTTCCTTTGCAACAGGGTAGAATACACAATAATTACAGAGGGAAATGACCAAAGATGTCACATTTTGTGCCTGTCTTCAGTCATTCCATGGCATCAGGACATGATCACTCTTCACTTATGACTTTTGTGTGAACCTCCCGGCTCTTCACCCGCAGTTTGTTCACCTGGGACTCAGCAATGTCAGCCCGTTCCTCGGCCTCCTCCAGCTCATGCTGGAGCTTGCGGAATTTAGCTAGATTGGTGTTGGATTGTTCCTCCTGA... | GGAAAGAGAAAAGACAAGACCAGTCTAAGGATATTGTTTGCAAACTACCCTATGCTTTATTTCCTTTGCAACAGGGTAGAATACACAATAATTACAGAGGGAAATGACCAAAGATGTCACATTTTGTGCCTGTCTTCAGTCATTCCATGGCATCAGGACATGATCACTCTTCACTTATGACTTTTGTGTGAACCTCCCGGCTCTTCACCCGCAGTTTGTTCACCTGGGACTCAGCAATGTCAGCCCGTTCCTCGGCCTCCTCCAGCTCATGCTGGAGCTTGCGGAATTTAGCTAGATTGGTGTTGGATTGTTCCTCCTGA... | pathogenic | 264,093 |
The mutation impacting MYH3 (myosin heavy chain 3) on chromosome 17 at position 10629564: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCCAGTCAATAGTCAAATTTACCAATTGGACCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTATTTTTTAACAGCGTGTTTGTACAAAGCAGTATCCTAACAAGGTCCACACAGTGCAATTGGCGGATAGGTCCACTAAGTATCTTTTAATCTACAGGTCTCCCTTGTATTTGTTTTATATTTTTTCTTTGCAATTTATTTATTGAAAAAGCTAAATGATTTGTTGAGTTCCCCCACATCTGGAGAGAACACCCCTTGGCCTTTCATTCTCACCTGAGTCAAACTAGGTCCCCTAATCTTCTGGAATCAGACAAAG... | TCCAGTCAATAGTCAAATTTACCAATTGGACCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTATTTTTTAACAGCGTGTTTGTACAAAGCAGTATCCTAACAAGGTCCACACAGTGCAATTGGCGGATAGGTCCACTAAGTATCTTTTAATCTACAGGTCTCCCTTGTATTTGTTTTATATTTTTTCTTTGCAATTTATTTATTGAAAAAGCTAAATGATTTGTTGAGTTCCCCCACATCTGGAGAGAACACCCCTTGGCCTTTCATTCTCACCTGAGTCAAACTAGGTCCCCTAATCTTCTGGAATCAGACAAAG... | benign | 264,184 |
Does the genetic variant at chromosome 17, position 10630278, impacting gene MYH3 (myosin heavy chain 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AACTCAAGACAAGGGCTTTTCATGAGCCTACCTTTGTGTTTCCTTCATGTCATATTAAGAGATGACTCTTTTGAAAAGCTCTCCCTCCCATTCCCCACCAAAGCAAAGGTTAACCCGGAAGTTTTTTTTTTTCCTTTTTGATTTAAGCCAAAAGCCATCTCTCCCTCCGCACATGCACACACCAATTGAATTTACCGAGCCATCTGCTTACAAAGCTTTCACCTCCGAGCATACAAACCATCAAACTAGGAACCATTTCTGCATGGGGAAGAGGAAAACAAATACAGCAAAGCGGCCCCAGATTGAAACAAAGCAAAGTT... | AACTCAAGACAAGGGCTTTTCATGAGCCTACCTTTGTGTTTCCTTCATGTCATATTAAGAGATGACTCTTTTGAAAAGCTCTCCCTCCCATTCCCCACCAAAGCAAAGGTTAACCCGGAAGTTTTTTTTTTTCCTTTTTGATTTAAGCCAAAAGCCATCTCTCCCTCCGCACATGCACACACCAATTGAATTTACCGAGCCATCTGCTTACAAAGCTTTCACCTCCGAGCATACAAACCATCAAACTAGGAACCATTTCTGCATGGGGAAGAGGAAAACAAATACAGCAAAGCGGCCCCAGATTGAAACAAAGCAAAGTT... | benign | 264,191 |
Assess the variant on chromosome 17, position 10632111, impacting MYH3 (myosin heavy chain 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CACGATCATGGCGTTTGCGTTCCACTTACCTGGTACGTCAGCTCCTTGACCCTCCGCTCATACTTCCTCAGGCCCTTAACAGACTCTGTGTTCTTCTTCTGCTCTCCCTCAAGTTCAAACTCCAGCTCTCGGATCTGGGGGAGAGGGTGGGGAAATTAGTCTGGGGCTGCAGCGTGATTGGGAGGCTGGAAAGCTCAGCGCAGGCGGGGTTCCTCCTGCACACACCCTGGTCTCCAGTTTCTGGATCTGCTTCTTCCCGCCCTTCAGCGCCAGCTGCTCGGCCTCATCTAGACGATGCTGCAGGTCCTTCACCGTCTGTT... | CACGATCATGGCGTTTGCGTTCCACTTACCTGGTACGTCAGCTCCTTGACCCTCCGCTCATACTTCCTCAGGCCCTTAACAGACTCTGTGTTCTTCTTCTGCTCTCCCTCAAGTTCAAACTCCAGCTCTCGGATCTGGGGGAGAGGGTGGGGAAATTAGTCTGGGGCTGCAGCGTGATTGGGAGGCTGGAAAGCTCAGCGCAGGCGGGGTTCCTCCTGCACACACCCTGGTCTCCAGTTTCTGGATCTGCTTCTTCCCGCCCTTCAGCGCCAGCTGCTCGGCCTCATCTAGACGATGCTGCAGGTCCTTCACCGTCTGTT... | benign | 264,204 |
The genetic variant at chromosome 17, position 10632702, affecting gene MYH3 (myosin heavy chain 3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic | AGCCTGCTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGATGCCCGTATTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAGTTGCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATCTCGCCATTGCACTCCAGCCTGGTCAATAAGAGTGAAACTCCATCTCGGGGGTGGGGGAAGAAAGAAAGAAAGAAAAAGGACAACGGGTGAGACTGTGATGAAGCACACTCTGCCACCCTGGAAGAGGGCCAGAGCTACACCCAGTAGATAAAATAACCTAATCAATGA... | AGCCTGCTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGATGCCCGTATTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAGTTGCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATCTCGCCATTGCACTCCAGCCTGGTCAATAAGAGTGAAACTCCATCTCGGGGGTGGGGGAAGAAAGAAAGAAAGAAAAAGGACAACGGGTGAGACTGTGATGAAGCACACTCTGCCACCCTGGAAGAGGGCCAGAGCTACACCCAGTAGATAAAATAACCTAATCAATGA... | pathogenic | 264,210 |
Does the genetic variant at chromosome 17, position 10639705, impacting gene MYH3 (myosin heavy chain 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['MYH3-related_disorder'] | CTCTTTCTATGAGTTATTTCAATTTCTTCTCTCCTGAAAAGATGCTTCCCTAGAGATTCTCCCTCAAACACACCCTGCCCTTGGTTTTGGCCAGCTACGCCCATTGGGTGCCAGGAGGTTTTGGCCCCACGGGTTTTCTGCACGTGGCTTACCAGCCTCGGTCTGCAAACGAGACTTCTGTGTGGTCAGCTCGCTCAGGCTCCTCTGAATTTCCTCATTCTTGCCCCTGGCCTCACTTAACTGATCCTCCAGGGTTCGGCAGATTTTTTCCAGATTTGCCTGAAGGATTCAGAAAGGGGAGCAAAGTCAGTCAGCAAAGT... | CTCTTTCTATGAGTTATTTCAATTTCTTCTCTCCTGAAAAGATGCTTCCCTAGAGATTCTCCCTCAAACACACCCTGCCCTTGGTTTTGGCCAGCTACGCCCATTGGGTGCCAGGAGGTTTTGGCCCCACGGGTTTTCTGCACGTGGCTTACCAGCCTCGGTCTGCAAACGAGACTTCTGTGTGGTCAGCTCGCTCAGGCTCCTCTGAATTTCCTCATTCTTGCCCCTGGCCTCACTTAACTGATCCTCCAGGGTTCGGCAGATTTTTTCCAGATTTGCCTGAAGGATTCAGAAAGGGGAGCAAAGTCAGTCAGCAAAGT... | pathogenic | 264,260 |
Regarding the variant at chromosome 17 and position 10639964, affecting gene MYH3 (myosin heavy chain 3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CAGATTTTTTCCAGATTTGCCTGAAGGATTCAGAAAGGGGAGCAAAGTCAGTCAGCAAAGTCAGGTTTCAATGACCACGGAGTGTGTCTGATGGAAAGCCTTGAGCCACCCCCACCCCGCGCAGCACCTTAGATTTCGACACACTCTCCATGCTGCTGGAGAGGTCATCGATCTCCAGCTTGAACTCGCTCTTCTCCTTCTCCAGCTTCTGCTTGACCCGCTGCAGGTTGTCAATCTGCTCCCCAAGCTCGGCCACACTATCCGCATGCTTCTTCCTCAGCGCGGCCACCATGGCTTCGTGCTGCAGTGTGGCCTCCTCC... | CAGATTTTTTCCAGATTTGCCTGAAGGATTCAGAAAGGGGAGCAAAGTCAGTCAGCAAAGTCAGGTTTCAATGACCACGGAGTGTGTCTGATGGAAAGCCTTGAGCCACCCCCACCCCGCGCAGCACCTTAGATTTCGACACACTCTCCATGCTGCTGGAGAGGTCATCGATCTCCAGCTTGAACTCGCTCTTCTCCTTCTCCAGCTTCTGCTTGACCCGCTGCAGGTTGTCAATCTGCTCCCCAAGCTCGGCCACACTATCCGCATGCTTCTTCCTCAGCGCGGCCACCATGGCTTCGTGCTGCAGTGTGGCCTCCTCC... | benign | 264,266 |
Is the chromosome 17, position 10641379 variant in MYH3 (myosin heavy chain 3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCC... | TTTGTTCAAAGAATTGACTTTGTCTTCTTCAGCTTGGAGGTCATCCAAGGCCTGCTGGTGCGCCTCTTGGAGGGCCTTCTTCTCTCTGGTTAACTTTGCAATTGTTTCATCTAACCCAGAGAGTTCCTCAGTAAGGTTTTTAACCTAAGAAGAATTCGCAAGCAATTATAAGCTTAAAGTTTAGTTTGCAATGACTATATCAAGCTAGACACACCTACAATAAGAATACCTTGTTCTCTGTGGCATGCTTCTCCTTCTCAACCTTGGCCAGGGTCAACTCAAGGTCATCAATGTCTTTCTTGAGCTCTGAGCATTCATCC... | benign | 264,282 |
Evaluate if the mutation on chromosome 17 at position 10648562 in MYH3 (myosin heavy chain 3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Contractures,_pterygia,_and_spondylocarpotarsal_fusion_syndrome_1A', 'Spondylocarpotarsal_synostosis_syndrome'] | GGCAGTGTGCAGTGCCTCCGTGGGCTTGATTATTCTGTTTGCTTTGGCGTCGCATTTGGCCATAGGTTGTTTCTGTGCCAGAACACAAGGGGGCGCCAAAGGACAGTTAGGTGTTCAGTTGCTCAGAAGGTTTTTATAAACCAGAGCTGGTCAGGAGTGGTCTAATCTTGTTGCCCTCCATTTGATTAGGTTTTCAAATTGGCATGTCACTGCCCAGATAGCCACATCCCATTTCTAAAATAAGCTTTTCCTGGCAAAGTGCAGTGGCTCACACCTATAATCCCAGCACTGTGGGAGGCCGAGTCGGGCAAATTGCTTGA... | GGCAGTGTGCAGTGCCTCCGTGGGCTTGATTATTCTGTTTGCTTTGGCGTCGCATTTGGCCATAGGTTGTTTCTGTGCCAGAACACAAGGGGGCGCCAAAGGACAGTTAGGTGTTCAGTTGCTCAGAAGGTTTTTATAAACCAGAGCTGGTCAGGAGTGGTCTAATCTTGTTGCCCTCCATTTGATTAGGTTTTCAAATTGGCATGTCACTGCCCAGATAGCCACATCCCATTTCTAAAATAAGCTTTTCCTGGCAAAGTGCAGTGGCTCACACCTATAATCCCAGCACTGTGGGAGGCCGAGTCGGGCAAATTGCTTGA... | pathogenic | 264,302 |
Does the chromosome 17 mutation at position 10648683 within gene MYH3 (myosin heavy chain 3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CTCAGAAGGTTTTTATAAACCAGAGCTGGTCAGGAGTGGTCTAATCTTGTTGCCCTCCATTTGATTAGGTTTTCAAATTGGCATGTCACTGCCCAGATAGCCACATCCCATTTCTAAAATAAGCTTTTCCTGGCAAAGTGCAGTGGCTCACACCTATAATCCCAGCACTGTGGGAGGCCGAGTCGGGCAAATTGCTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACCTCATCTCTACAAAAAACACAAAAGGTAGCCTGGTGTGGGGGCATGCACCTGTAGTCGCAGCCACTCGGGAGGCTGGGGCT... | CTCAGAAGGTTTTTATAAACCAGAGCTGGTCAGGAGTGGTCTAATCTTGTTGCCCTCCATTTGATTAGGTTTTCAAATTGGCATGTCACTGCCCAGATAGCCACATCCCATTTCTAAAATAAGCTTTTCCTGGCAAAGTGCAGTGGCTCACACCTATAATCCCAGCACTGTGGGAGGCCGAGTCGGGCAAATTGCTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACCTCATCTCTACAAAAAACACAAAAGGTAGCCTGGTGTGGGGGCATGCACCTGTAGTCGCAGCCACTCGGGAGGCTGGGGCT... | benign | 264,305 |
Does the chromosome 17 mutation at position 10651747 within gene MYH3 (myosin heavy chain 3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TCAAAAGAGAGAGAAAGAAACAAGTCTGTTAGTATAAACAGGCTTTTCAGGATGTCATACTGAGGCCTGGGCATGGTCTGAGCCATCTCTGACACACACTCACCACACTAATGTGACAGACCACTTGAGAAGGCAGACGCCCAGGGCACAGGTGCCACAGGCACTTGCTCAGCTGACCCAAGGATGGGTAATTCCATTTTTCTGAGGCCTTATGCAGACCTTCCTCCCCATCCCCAAATCGATCTTTTTATTTTTTATTTATTTATTTTTCTCTTTTATTTTTTATTTTTTGAGACAGAATCTCACTCTGCTGCCCAGGC... | TCAAAAGAGAGAGAAAGAAACAAGTCTGTTAGTATAAACAGGCTTTTCAGGATGTCATACTGAGGCCTGGGCATGGTCTGAGCCATCTCTGACACACACTCACCACACTAATGTGACAGACCACTTGAGAAGGCAGACGCCCAGGGCACAGGTGCCACAGGCACTTGCTCAGCTGACCCAAGGATGGGTAATTCCATTTTTCTGAGGCCTTATGCAGACCTTCCTCCCCATCCCCAAATCGATCTTTTTATTTTTTATTTATTTATTTTTCTCTTTTATTTTTTATTTTTTGAGACAGAATCTCACTCTGCTGCCCAGGC... | benign | 264,321 |
For chromosome 17, position 10692774, gene SCO1 (synthesis of cytochrome C oxidase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Mitochondrial_complex_4_deficiency,_nuclear_type_4'] | CGTCTGCATTCCTATGTTTACCACAGCACTAATCACAATAGCCAAGATATGAAATCCAACAGTACTCATCAACAGGTGAATGGATAAAGAAAATGCAGTATACATACGTCATGGAATACTACCCAGCCATATTAAAGAATGAAATCCTGTCATTTGTGGCAATGGAGATGAGCCTGGAGGATACTATTAATATGTTAAATGAAAAAAGTCAGGCACAGAAAGATAAATACTGCATATTCATACGTGGAAACTAAAAAAGTTGATCTCACAGAAGTAGAGAGAAGAATTGTGGATACTAGAGGCTGGAAAGGGTTGGGGAG... | CGTCTGCATTCCTATGTTTACCACAGCACTAATCACAATAGCCAAGATATGAAATCCAACAGTACTCATCAACAGGTGAATGGATAAAGAAAATGCAGTATACATACGTCATGGAATACTACCCAGCCATATTAAAGAATGAAATCCTGTCATTTGTGGCAATGGAGATGAGCCTGGAGGATACTATTAATATGTTAAATGAAAAAAGTCAGGCACAGAAAGATAAATACTGCATATTCATACGTGGAAACTAAAAAAGTTGATCTCACAGAAGTAGAGAGAAGAATTGTGGATACTAGAGGCTGGAAAGGGTTGGGGAG... | pathogenic | 264,345 |
Mutation found at chromosome 17 position 10695739, gene SCO1 (synthesis of cytochrome C oxidase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Mitochondrial_complex_4_deficiency,_nuclear_type_4'] | GAGAAATGGCTGATACCAGGGTTGCGGCAAAGAAAGTGTAAAATGAGGCTGGAACCTCTTGTTGTGGCAGAAGGAAAGCAGAACTTAGAGAATATTGGAGACGTGTCAAAGACACAGAAGCCTGCTCCAAGGGGGCTCCCGCTGATCAATCTGGGACAACTTGGGCATCAAAATAAAGAGAATATGGATTTAAACTGAATGAATATATAGGAAACAAGTCCACAGATATAAATAAATGAATACATTGATAGTGGGATGGGGAACAGAATATGTAAGTATACGTATGTCAATACAAATCATGAAACACCATTAATTACATG... | GAGAAATGGCTGATACCAGGGTTGCGGCAAAGAAAGTGTAAAATGAGGCTGGAACCTCTTGTTGTGGCAGAAGGAAAGCAGAACTTAGAGAATATTGGAGACGTGTCAAAGACACAGAAGCCTGCTCCAAGGGGGCTCCCGCTGATCAATCTGGGACAACTTGGGCATCAAAATAAAGAGAATATGGATTTAAACTGAATGAATATATAGGAAACAAGTCCACAGATATAAATAAATGAATACATTGATAGTGGGATGGGGAACAGAATATGTAAGTATACGTATGTCAATACAAATCATGAAACACCATTAATTACATG... | pathogenic | 264,350 |
Considering the genetic mutation at chromosome 17, position 10697246, impacting SCO1 (synthesis of cytochrome C oxidase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Mitochondrial_complex_4_deficiency,_nuclear_type_4'] | GGAAGCCTTCTCAAATCTCAAGGCTGGGACTTGCTTTTGCTCTCACAACATGGTAAGCTTCCTTCTGGCCTGGCAGAATCGCATCTAGTAAAATACTTTACTTCTGTGTCTGTTTCCCTTCCGTGTGCACCTCAAAGGCTCGACTACATCTTACTCATCTTCGTACCCTCCAGATTTCATCTTGCCCAGTCAAATCTATCCACAGTATATCTTTTAACATTGTTATGCAGTGGTATCCTAGCTTGGATCCTGGAACAAATAAAAGACATTGATAGAAAAACAAGTGAAATCCAAATACAATCTGTAATTTAATAGTTGTG... | GGAAGCCTTCTCAAATCTCAAGGCTGGGACTTGCTTTTGCTCTCACAACATGGTAAGCTTCCTTCTGGCCTGGCAGAATCGCATCTAGTAAAATACTTTACTTCTGTGTCTGTTTCCCTTCCGTGTGCACCTCAAAGGCTCGACTACATCTTACTCATCTTCGTACCCTCCAGATTTCATCTTGCCCAGTCAAATCTATCCACAGTATATCTTTTAACATTGTTATGCAGTGGTATCCTAGCTTGGATCCTGGAACAAATAAAAGACATTGATAGAAAAACAAGTGAAATCCAAATACAATCTGTAATTTAATAGTTGTG... | pathogenic | 264,352 |
Is the chromosome 17, position 11598539 variant in DNAH9 (dynein axonemal heavy chain 9) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | ATTCACAGACTCCTTTGTTCCTATTTTTATGTATGTTGGGGCAAGGGGACATAGGAGATTAACGGCATAATAGAGCCACAGTGCGGTGGCAGAAATTTTATTTCAAGGGTTTACTGAAAGTTAATGGTCCTGAAGTCACTCTGTATACGAAACATGAGCATAGTTGACACATTTGAAGTCCCTAAGCACTAAAACAATAACGATGCCTTCCTATGTGCAAAGATAAACAAAAAACGATATGTGTAAGAAGCCCCTGACATTACTATTTTTCCCTGATGCTTCTTCTTGAAATGTCAGTTACCAAATTCATCCTAAAGATT... | ATTCACAGACTCCTTTGTTCCTATTTTTATGTATGTTGGGGCAAGGGGACATAGGAGATTAACGGCATAATAGAGCCACAGTGCGGTGGCAGAAATTTTATTTCAAGGGTTTACTGAAAGTTAATGGTCCTGAAGTCACTCTGTATACGAAACATGAGCATAGTTGACACATTTGAAGTCCCTAAGCACTAAAACAATAACGATGCCTTCCTATGTGCAAAGATAAACAAAAAACGATATGTGTAAGAAGCCCCTGACATTACTATTTTTCCCTGATGCTTCTTCTTGAAATGTCAGTTACCAAATTCATCCTAAAGATT... | benign | 264,362 |
A genetic alteration at chromosome 17, position 11598799, in gene DNAH9 (dynein axonemal heavy chain 9)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Abnormal_cardiovascular_system_morphology', 'Ciliary_dyskinesia,_primary,_40', 'DNAH9-related_disorder', 'Hydrocephalus'] | TACTATTTTTCCCTGATGCTTCTTCTTGAAATGTCAGTTACCAAATTCATCCTAAAGATTGTTTTAGTTTCCCACTTTTTCCCTTTCCTCATAGTTGGTTGATTATTGTTTAATCCAGCAATGATGAAACACCCTTTACAAACATAAAGATTCATTTCTAACATGAACATTTTTTATTACAGCAACTCCTTTGCTCCAGTTATTATGAAATCAATCATTTTACTTCCCAACCACTGGTGTTTTCCCGAGGGGCTCTTGTTAGCCAAGCTACCATTGATAAGTGCTTATTCTGTTAATATTCCTTTGAAACCCATTATAAA... | TACTATTTTTCCCTGATGCTTCTTCTTGAAATGTCAGTTACCAAATTCATCCTAAAGATTGTTTTAGTTTCCCACTTTTTCCCTTTCCTCATAGTTGGTTGATTATTGTTTAATCCAGCAATGATGAAACACCCTTTACAAACATAAAGATTCATTTCTAACATGAACATTTTTTATTACAGCAACTCCTTTGCTCCAGTTATTATGAAATCAATCATTTTACTTCCCAACCACTGGTGTTTTCCCGAGGGGCTCTTGTTAGCCAAGCTACCATTGATAAGTGCTTATTCTGTTAATATTCCTTTGAAACCCATTATAAA... | pathogenic | 264,367 |
Is the chromosome 17, position 11598799 variant in DNAH9 (dynein axonemal heavy chain 9) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Ciliary_dyskinesia,_primary,_40', 'DNAH9-related_disorder', 'Primary_ciliary_dyskinesia'] | TACTATTTTTCCCTGATGCTTCTTCTTGAAATGTCAGTTACCAAATTCATCCTAAAGATTGTTTTAGTTTCCCACTTTTTCCCTTTCCTCATAGTTGGTTGATTATTGTTTAATCCAGCAATGATGAAACACCCTTTACAAACATAAAGATTCATTTCTAACATGAACATTTTTTATTACAGCAACTCCTTTGCTCCAGTTATTATGAAATCAATCATTTTACTTCCCAACCACTGGTGTTTTCCCGAGGGGCTCTTGTTAGCCAAGCTACCATTGATAAGTGCTTATTCTGTTAATATTCCTTTGAAACCCATTATAAA... | TACTATTTTTCCCTGATGCTTCTTCTTGAAATGTCAGTTACCAAATTCATCCTAAAGATTGTTTTAGTTTCCCACTTTTTCCCTTTCCTCATAGTTGGTTGATTATTGTTTAATCCAGCAATGATGAAACACCCTTTACAAACATAAAGATTCATTTCTAACATGAACATTTTTTATTACAGCAACTCCTTTGCTCCAGTTATTATGAAATCAATCATTTTACTTCCCAACCACTGGTGTTTTCCCGAGGGGCTCTTGTTAGCCAAGCTACCATTGATAAGTGCTTATTCTGTTAATATTCCTTTGAAACCCATTATAAA... | pathogenic | 264,368 |
Variant in gene DNAH9, located at chromosome 17 position 11669424: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['DNAH9-related_disorder', 'Non-immune_hydrops_fetalis'] | TAAGTCAAATATTGGGACTCTCCTGAGTCCAATCTTGTGTTCCCTTAAGTTAAATATTGGGACTGTCCTGAGTCCAATAATGAGAATTTGTCATCCCTCCAGTTCTGAAGGCAAGGCCCTATTCTTACGTATTTTGAGTATACTGCAGTATTTTACTTAGGGTGAGTGGCTAAGCTGTGGTAACAAAAACTCCATCAACAATATGGTTTGAAGGACAGAGAAGTCTACCCTTGAAAGCAAGAGTCAAAGGTGAGTGTTCCAGTCTTATGGGCAGGTTCCTTCTGTCCTATGGCTCCACCATTCTTCAGGGCCTTGTCCTC... | TAAGTCAAATATTGGGACTCTCCTGAGTCCAATCTTGTGTTCCCTTAAGTTAAATATTGGGACTGTCCTGAGTCCAATAATGAGAATTTGTCATCCCTCCAGTTCTGAAGGCAAGGCCCTATTCTTACGTATTTTGAGTATACTGCAGTATTTTACTTAGGGTGAGTGGCTAAGCTGTGGTAACAAAAACTCCATCAACAATATGGTTTGAAGGACAGAGAAGTCTACCCTTGAAAGCAAGAGTCAAAGGTGAGTGTTCCAGTCTTATGGGCAGGTTCCTTCTGTCCTATGGCTCCACCATTCTTCAGGGCCTTGTCCTC... | pathogenic | 264,418 |
Gene DNAH9 (dynein axonemal heavy chain 9) variant at chromosome 17, position 11679755—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['DNAH9-related_disorder'] | GACTTCCTTTTTTGTCTGCTTTGGGGTATAATTTTTCATGTTTTCTTTTATTTTCCTTATTCCATTTTTTCCTCTGCTACTTTGAATGTCATGCCATGTAGCTCTGCTGTTCTAATGCTTACCACTGCTATTTTAATAAGCATCCTTAAAATAAGTAAATTTATTACTATTTTTAGTCTCTTCACAATGATTAAAAGACTTTAGAATAGTTTCATGTCTCCTGTTCATCCATCAAATTATATTCTATCATTCCTAGTAATTTAGATTGCTCTCTATTATTTATTTAAGCCCCAGGAACTATATATATATATCTATATATA... | GACTTCCTTTTTTGTCTGCTTTGGGGTATAATTTTTCATGTTTTCTTTTATTTTCCTTATTCCATTTTTTCCTCTGCTACTTTGAATGTCATGCCATGTAGCTCTGCTGTTCTAATGCTTACCACTGCTATTTTAATAAGCATCCTTAAAATAAGTAAATTTATTACTATTTTTAGTCTCTTCACAATGATTAAAAGACTTTAGAATAGTTTCATGTCTCCTGTTCATCCATCAAATTATATTCTATCATTCCTAGTAATTTAGATTGCTCTCTATTATTTATTTAAGCCCCAGGAACTATATATATATATCTATATATA... | pathogenic | 264,421 |
Clinical significance of chromosome 17, position 11797662, gene DNAH9 (dynein axonemal heavy chain 9): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ciliary_dyskinesia,_primary,_40'] | TGGGGCCTGATGTTTGAGACCCTCATGTTAGATGCCCTTCTCTGAGCATCATAGAGTTACCCAATTCAGGTATTCATTGTTGGCCTGGCAAATTAGTCTTCATGGTCTTTACAAGTCGGTCTGAGCTAGCACTTCAGAGTAATAACACTTGAACTTTCAAATAGAGTTCCATGTGTGGGTCTGTGTATGAAGAGCACTGCCTTTTGATCACAGACCCAGATATATGAATATTGCCATTATCCTTCCCCAACAACATTTGAAATGCCAGCCTGAAGCACCCTTGGTCACACCACATCTTGGTATTGGTATCAAGGAAAAGT... | TGGGGCCTGATGTTTGAGACCCTCATGTTAGATGCCCTTCTCTGAGCATCATAGAGTTACCCAATTCAGGTATTCATTGTTGGCCTGGCAAATTAGTCTTCATGGTCTTTACAAGTCGGTCTGAGCTAGCACTTCAGAGTAATAACACTTGAACTTTCAAATAGAGTTCCATGTGTGGGTCTGTGTATGAAGAGCACTGCCTTTTGATCACAGACCCAGATATATGAATATTGCCATTATCCTTCCCCAACAACATTTGAAATGCCAGCCTGAAGCACCCTTGGTCACACCACATCTTGGTATTGGTATCAAGGAAAAGT... | pathogenic | 264,492 |
Considering the variant on chromosome 17, location 11822456, involving gene DNAH9 (dynein axonemal heavy chain 9), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Ciliary_dyskinesia,_primary,_40', 'Primary_ciliary_dyskinesia'] | TAAAAAAAAAATAAGGTGTAGTTTTAATATACATTTTCATTAAGAGTAAGATTGACTGTCCTTGTTCGTTAACCTCATTTCTACAAACAAAAAGTAACTAAGCATAGTTTTGATATACATTTCTGTTCTTATGAGTGAGGTGAAGCATCTATTAATATATTCAACAGAAATTTTTATTTCCTTCACCATGAACTTTCTTTTCCTCTCCTTCACCCCATCTATCTATTGAATTATTGATTTTTTTCTTTATTTGTAGAGAATTTCTTTACATACTAAGATTAACCACTTTACTATAATCTGAGTTAACATATTTTCTTAGT... | TAAAAAAAAAATAAGGTGTAGTTTTAATATACATTTTCATTAAGAGTAAGATTGACTGTCCTTGTTCGTTAACCTCATTTCTACAAACAAAAAGTAACTAAGCATAGTTTTGATATACATTTCTGTTCTTATGAGTGAGGTGAAGCATCTATTAATATATTCAACAGAAATTTTTATTTCCTTCACCATGAACTTTCTTTTCCTCTCCTTCACCCCATCTATCTATTGAATTATTGATTTTTTTCTTTATTTGTAGAGAATTTCTTTACATACTAAGATTAACCACTTTACTATAATCTGAGTTAACATATTTTCTTAGT... | pathogenic | 264,499 |
Clinical classification of chromosome 17, position 11883756, gene DNAH9: benign or pathogenic? Disease(s) if pathogenic? | benign | ACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATAAATATTAAAATTAACTGGGCATGGTGGCGCTAGCCTGTAGTCCTAGCTACTCGGGAAGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGAAATAGGGCGAGGTTCTGTCTCAAAAAAAAGAAAAAAAAAACAGCTTGGAGACTGGACACTCCTATGACCAAGAGCAGAGCCTGGCATGAACATGAGTGCTGCTGATCACACAGGTCCACGTGCCAGAACTAAGCGGAA... | ACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATAAATATTAAAATTAACTGGGCATGGTGGCGCTAGCCTGTAGTCCTAGCTACTCGGGAAGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGAAATAGGGCGAGGTTCTGTCTCAAAAAAAAGAAAAAAAAAACAGCTTGGAGACTGGACACTCCTATGACCAAGAGCAGAGCCTGGCATGAACATGAGTGCTGCTGATCACACAGGTCCACGTGCCAGAACTAAGCGGAA... | benign | 264,533 |
Is the chromosome 17, position 11891856 variant in DNAH9 (dynein axonemal heavy chain 9) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic | CCCTACAAAAAAATTACAAAAGCCGATGAGTATATATGAGGGTAGTTTGAGTCAATGATAAGACCCCATGGGCAGGAGAAGGGACCTTCTGGAGGATGCTGTGGAAGTGGGATCAGGCCCAGCACCAGAGCTGTTCCGACACCAGAAGTAAGAGGAAGAAGCTTTTTGGGTTTTGTTTCTTGTTTTAGGACAGAAAAGAAAAAGAGAGCAAAATTAGTTTAATATAAAGAAAACGCTAAATGTACCTAGGTTTTTAATTTTTTTTACATGTTTTCCTGAATTGTGAATCACTTTGTTTAAACTTAAATAACAAAGAGATT... | CCCTACAAAAAAATTACAAAAGCCGATGAGTATATATGAGGGTAGTTTGAGTCAATGATAAGACCCCATGGGCAGGAGAAGGGACCTTCTGGAGGATGCTGTGGAAGTGGGATCAGGCCCAGCACCAGAGCTGTTCCGACACCAGAAGTAAGAGGAAGAAGCTTTTTGGGTTTTGTTTCTTGTTTTAGGACAGAAAAGAAAAAGAGAGCAAAATTAGTTTAATATAAAGAAAACGCTAAATGTACCTAGGTTTTTAATTTTTTTTACATGTTTTCCTGAATTGTGAATCACTTTGTTTAAACTTAAATAACAAAGAGATT... | pathogenic | 264,536 |
Mutation at chromosome 17, position 12993795, within ELAC2 (elaC ribonuclease Z 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_17'] | GTCCCTGGCTGATCTCTCGCTTGCTTGTCTTTTGAGTTTTTAAAGCTCTTCTTTTTACATTCTCCTGGGTAGGGAATATACACAATAAATACTAGATTCAACTTACTTACTTACTTACTTACTTTACTTACTTACTTCCTTGGAAAATGCTCTCCATTTGTCGAGCACTAATCCACGTCTGTAAATCCCGCAAGGAGGACAATGGAAACCAGCCCCGTGTGCCATTTCTCAAAACCTTCGAGGGCAAAGTGATCCTCACTCCTCTCAGTATGGAAGCAACAACACAGCAAATCTATTGTCTCCACTTTTACCCAGAACCA... | GTCCCTGGCTGATCTCTCGCTTGCTTGTCTTTTGAGTTTTTAAAGCTCTTCTTTTTACATTCTCCTGGGTAGGGAATATACACAATAAATACTAGATTCAACTTACTTACTTACTTACTTACTTTACTTACTTACTTCCTTGGAAAATGCTCTCCATTTGTCGAGCACTAATCCACGTCTGTAAATCCCGCAAGGAGGACAATGGAAACCAGCCCCGTGTGCCATTTCTCAAAACCTTCGAGGGCAAAGTGATCCTCACTCCTCTCAGTATGGAAGCAACAACACAGCAAATCTATTGTCTCCACTTTTACCCAGAACCA... | pathogenic | 264,599 |
Does the genetic variant at chromosome 17, position 12994783, impacting gene ELAC2 (elaC ribonuclease Z 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_17', 'Inborn_genetic_diseases'] | TTCTACCAGCAAGGAGGGCAGATACGGGTGCGTGCGTGGGGCAGAAGACACACAGCCTTCTGAGTTCAGGGTCTCCCAGATCTTCACTGGGCTCTGACCTTCTTGGCCTGTGGCTCCTCTGTGTGGGCCCGCTTCTGCTGAGGCTCCCCATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGCTCCCGCTTCTCCCTGCGCTCCTCCATCTCCTCGATGTCGCCAGCAAACAGGGCTTTCAGTGGGGGAATCAGCTTGGGCATTGTTGGAAAGTCTCCAAAGCAGACCTAGAAGAC... | TTCTACCAGCAAGGAGGGCAGATACGGGTGCGTGCGTGGGGCAGAAGACACACAGCCTTCTGAGTTCAGGGTCTCCCAGATCTTCACTGGGCTCTGACCTTCTTGGCCTGTGGCTCCTCTGTGTGGGCCCGCTTCTGCTGAGGCTCCCCATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGCTCCCGCTTCTCCCTGCGCTCCTCCATCTCCTCGATGTCGCCAGCAAACAGGGCTTTCAGTGGGGGAATCAGCTTGGGCATTGTTGGAAAGTCTCCAAAGCAGACCTAGAAGAC... | pathogenic | 264,607 |
Chromosome 17, position 13000282, gene ELAC2 (elaC ribonuclease Z 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TGCTACTGAGGCTATAAAATGCAGTAAGGCCACGCTCCTCTCCTGGACACTCCAGTCGACATGACAAGTGACAGGGCTTGATACCGCATTTCAAATCGACTGGTGAGTACAGCAGGACTTTTGTTTAAAAAGTAAACGTGCCCTTGATGGAAGGATGCTTCCTGGGAAAGCAGCATACCTTATGTTGACAAGTGTGGCACTGACATTTCGAATCTTCATCGGGATGGCAGACCCTGTTCCAAGGAAGATGATTTCTGGGTACTGACTTCTTTTCTCTGTGAAAAAATCCATGTGAAACAATCCATTCCTTTGGGTCAAAA... | TGCTACTGAGGCTATAAAATGCAGTAAGGCCACGCTCCTCTCCTGGACACTCCAGTCGACATGACAAGTGACAGGGCTTGATACCGCATTTCAAATCGACTGGTGAGTACAGCAGGACTTTTGTTTAAAAAGTAAACGTGCCCTTGATGGAAGGATGCTTCCTGGGAAAGCAGCATACCTTATGTTGACAAGTGTGGCACTGACATTTCGAATCTTCATCGGGATGGCAGACCCTGTTCCAAGGAAGATGATTTCTGGGTACTGACTTCTTTTCTCTGTGAAAAAATCCATGTGAAACAATCCATTCCTTTGGGTCAAAA... | benign | 264,632 |
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