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 |
|---|---|---|---|---|---|
Regarding the variant found on chromosome 15 at position 80168282 in gene FAH (fumarylacetoacetate hydrolase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Tyrosinemia_type_I'] | CTGCCTCAGCCCCCTAAGTAGCTGGGATTAAAGGTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGTTTTCGCCATGTTGATCAGGCTGGTCGCAAACTCCTGGACTCAAGTGATCAGCCCACCTTGGCCTGCCTTAGCCCCACAAAGTGCTGGGGTTATAGGCATGAGCCACCGTGCCCGGCCTTCTTATATATTTTTTCACAGATGTTTTTGCATACTCTGCCAGTTTATATATACAGTCATTTCTCTATTATTAGTTTACAAGAGTGTTTTATAAGTGATAGAAATTAACCCTTTGTTGCA... | CTGCCTCAGCCCCCTAAGTAGCTGGGATTAAAGGTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGTTTTCGCCATGTTGATCAGGCTGGTCGCAAACTCCTGGACTCAAGTGATCAGCCCACCTTGGCCTGCCTTAGCCCCACAAAGTGCTGGGGTTATAGGCATGAGCCACCGTGCCCGGCCTTCTTATATATTTTTTCACAGATGTTTTTGCATACTCTGCCAGTTTATATATACAGTCATTTCTCTATTATTAGTTTACAAGAGTGTTTTATAAGTGATAGAAATTAACCCTTTGTTGCA... | pathogenic | 237,083 |
Chromosome 15, position 80172149, gene FAH (fumarylacetoacetate hydrolase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Tyrosinemia_type_I'] | ATGGAAAGGAGGAGCTGACCTGGGGGAGGCAGCGCTCCGGGGACCTGGCAGGGTCTTCAGCATCTGCTGGGTTGTCTGATGCCCAAGGTTGGAGTCAGTCTCCGTGTGGGAAATGCAGACAGGCAGATGGAGGGGGCTTTCCCATAGTCAGCACCTACAGTTTTAGGCGTTGCCTCAGGAAGCTCTGAGTGCCTCATCACTGATGGTGTAGAAGAAGCTGTCATGGGGCCACCGAGTCAGGCTGAGACAGTGGGAAGCCCTGGTTGGTGGAGGCAGGCTGAAAGGCCCGTCTGCTTTTCTGGAGCTCCCTGTCTCTCCTG... | ATGGAAAGGAGGAGCTGACCTGGGGGAGGCAGCGCTCCGGGGACCTGGCAGGGTCTTCAGCATCTGCTGGGTTGTCTGATGCCCAAGGTTGGAGTCAGTCTCCGTGTGGGAAATGCAGACAGGCAGATGGAGGGGGCTTTCCCATAGTCAGCACCTACAGTTTTAGGCGTTGCCTCAGGAAGCTCTGAGTGCCTCATCACTGATGGTGTAGAAGAAGCTGTCATGGGGCCACCGAGTCAGGCTGAGACAGTGGGAAGCCCTGGTTGGTGGAGGCAGGCTGAAAGGCCCGTCTGCTTTTCTGGAGCTCCCTGTCTCTCCTG... | pathogenic | 237,088 |
Clinical classification of chromosome 15, position 80172150, gene FAH (fumarylacetoacetate hydrolase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Tyrosinemia_type_I'] | TGGAAAGGAGGAGCTGACCTGGGGGAGGCAGCGCTCCGGGGACCTGGCAGGGTCTTCAGCATCTGCTGGGTTGTCTGATGCCCAAGGTTGGAGTCAGTCTCCGTGTGGGAAATGCAGACAGGCAGATGGAGGGGGCTTTCCCATAGTCAGCACCTACAGTTTTAGGCGTTGCCTCAGGAAGCTCTGAGTGCCTCATCACTGATGGTGTAGAAGAAGCTGTCATGGGGCCACCGAGTCAGGCTGAGACAGTGGGAAGCCCTGGTTGGTGGAGGCAGGCTGAAAGGCCCGTCTGCTTTTCTGGAGCTCCCTGTCTCTCCTGG... | TGGAAAGGAGGAGCTGACCTGGGGGAGGCAGCGCTCCGGGGACCTGGCAGGGTCTTCAGCATCTGCTGGGTTGTCTGATGCCCAAGGTTGGAGTCAGTCTCCGTGTGGGAAATGCAGACAGGCAGATGGAGGGGGCTTTCCCATAGTCAGCACCTACAGTTTTAGGCGTTGCCTCAGGAAGCTCTGAGTGCCTCATCACTGATGGTGTAGAAGAAGCTGTCATGGGGCCACCGAGTCAGGCTGAGACAGTGGGAAGCCCTGGTTGGTGGAGGCAGGCTGAAAGGCCCGTCTGCTTTTCTGGAGCTCCCTGTCTCTCCTGG... | pathogenic | 237,089 |
Regarding the variant found on chromosome 15 at position 80172150 in gene FAH (fumarylacetoacetate hydrolase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Tyrosinemia_type_I'] | TGGAAAGGAGGAGCTGACCTGGGGGAGGCAGCGCTCCGGGGACCTGGCAGGGTCTTCAGCATCTGCTGGGTTGTCTGATGCCCAAGGTTGGAGTCAGTCTCCGTGTGGGAAATGCAGACAGGCAGATGGAGGGGGCTTTCCCATAGTCAGCACCTACAGTTTTAGGCGTTGCCTCAGGAAGCTCTGAGTGCCTCATCACTGATGGTGTAGAAGAAGCTGTCATGGGGCCACCGAGTCAGGCTGAGACAGTGGGAAGCCCTGGTTGGTGGAGGCAGGCTGAAAGGCCCGTCTGCTTTTCTGGAGCTCCCTGTCTCTCCTGG... | TGGAAAGGAGGAGCTGACCTGGGGGAGGCAGCGCTCCGGGGACCTGGCAGGGTCTTCAGCATCTGCTGGGTTGTCTGATGCCCAAGGTTGGAGTCAGTCTCCGTGTGGGAAATGCAGACAGGCAGATGGAGGGGGCTTTCCCATAGTCAGCACCTACAGTTTTAGGCGTTGCCTCAGGAAGCTCTGAGTGCCTCATCACTGATGGTGTAGAAGAAGCTGTCATGGGGCCACCGAGTCAGGCTGAGACAGTGGGAAGCCCTGGTTGGTGGAGGCAGGCTGAAAGGCCCGTCTGCTTTTCTGGAGCTCCCTGTCTCTCCTGG... | pathogenic | 237,090 |
Clinical impact (benign or pathogenic) of the variant at chromosome 15, location 80173048, gene FAH (fumarylacetoacetate hydrolase): what disease(s) if pathogenic? | pathogenic; ['Tyrosinemia_type_I'] | CTCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAA... | CTCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAA... | pathogenic | 237,104 |
Does the genetic variant at chromosome 15, position 80180186, impacting gene FAH (fumarylacetoacetate hydrolase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Tyrosinemia_type_I'] | TGCAGTGAGCCATGATCACACCACTGCATTCCAGCATGCGTGACAGAGCAAGACCCTATTTCAAAAAATAAAAATTAAAAAAAGTGCATATTATACATGTACAGCTTGAAGAATTTTCCTAAAATGAACATCCCTGTGCAACCAGCACCCAGATCAGAAATGGAAAATTTCCAGCACCTCAGCAGCCCCGTGGGGCCCTCCAGGTCACTTCATCACTCCCTCCAGCAAAGGTCACTCCTCTCCTGACCTCTGCTACCATGTATTATTTTTTTTCTGTTTTTCAGTTTTATAGAAATGGCATCATAAAGTAGCATGTATTC... | TGCAGTGAGCCATGATCACACCACTGCATTCCAGCATGCGTGACAGAGCAAGACCCTATTTCAAAAAATAAAAATTAAAAAAAGTGCATATTATACATGTACAGCTTGAAGAATTTTCCTAAAATGAACATCCCTGTGCAACCAGCACCCAGATCAGAAATGGAAAATTTCCAGCACCTCAGCAGCCCCGTGGGGCCCTCCAGGTCACTTCATCACTCCCTCCAGCAAAGGTCACTCCTCTCCTGACCTCTGCTACCATGTATTATTTTTTTTCTGTTTTTCAGTTTTATAGAAATGGCATCATAAAGTAGCATGTATTC... | pathogenic | 237,131 |
Evaluate the clinical significance of the mutation at chromosome 15, position 80180188 in gene FAH (fumarylacetoacetate hydrolase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Tyrosinemia_type_I'] | CAGTGAGCCATGATCACACCACTGCATTCCAGCATGCGTGACAGAGCAAGACCCTATTTCAAAAAATAAAAATTAAAAAAAGTGCATATTATACATGTACAGCTTGAAGAATTTTCCTAAAATGAACATCCCTGTGCAACCAGCACCCAGATCAGAAATGGAAAATTTCCAGCACCTCAGCAGCCCCGTGGGGCCCTCCAGGTCACTTCATCACTCCCTCCAGCAAAGGTCACTCCTCTCCTGACCTCTGCTACCATGTATTATTTTTTTTCTGTTTTTCAGTTTTATAGAAATGGCATCATAAAGTAGCATGTATTCTT... | CAGTGAGCCATGATCACACCACTGCATTCCAGCATGCGTGACAGAGCAAGACCCTATTTCAAAAAATAAAAATTAAAAAAAGTGCATATTATACATGTACAGCTTGAAGAATTTTCCTAAAATGAACATCCCTGTGCAACCAGCACCCAGATCAGAAATGGAAAATTTCCAGCACCTCAGCAGCCCCGTGGGGCCCTCCAGGTCACTTCATCACTCCCTCCAGCAAAGGTCACTCCTCTCCTGACCTCTGCTACCATGTATTATTTTTTTTCTGTTTTTCAGTTTTATAGAAATGGCATCATAAAGTAGCATGTATTCTT... | pathogenic | 237,133 |
Determine if the mutation at chromosome 15, position 80186138 in gene FAH (fumarylacetoacetate hydrolase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Tyrosinemia_type_I'] | AGTCTCGCTCACAAACCCCATCTGGTGTTGAGCTTGCAACTTGCAAGGATGTGTTCTCGCAGGCATTTGCACGGATGGCTCTGCACTGCTGGACACATGCATTTCTCACTCTCCTTCAGATCTTTGATTTGTTGATAGTTATGATTTGTTGTGGATTCTTTCTTGGTATCTGACATTATTTGGAAACAATATCTGAGCAAAAGTCTTTCGTTTCTTGCCCTGCGTCTCTCAGTGGTGGCGTCTTTCACCTGGTGTTCCTGTGTCTCTGTTTATTCCAGTTTCTCTCCCCAGCATTATTGCTTGCCTTGCCTGGCACAGAA... | AGTCTCGCTCACAAACCCCATCTGGTGTTGAGCTTGCAACTTGCAAGGATGTGTTCTCGCAGGCATTTGCACGGATGGCTCTGCACTGCTGGACACATGCATTTCTCACTCTCCTTCAGATCTTTGATTTGTTGATAGTTATGATTTGTTGTGGATTCTTTCTTGGTATCTGACATTATTTGGAAACAATATCTGAGCAAAAGTCTTTCGTTTCTTGCCCTGCGTCTCTCAGTGGTGGCGTCTTTCACCTGGTGTTCCTGTGTCTCTGTTTATTCCAGTTTCTCTCCCCAGCATTATTGCTTGCCTTGCCTGGCACAGAA... | pathogenic | 237,151 |
Regarding the variant at chromosome 15 and position 80186257, affecting gene FAH (fumarylacetoacetate hydrolase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ATCTTTGATTTGTTGATAGTTATGATTTGTTGTGGATTCTTTCTTGGTATCTGACATTATTTGGAAACAATATCTGAGCAAAAGTCTTTCGTTTCTTGCCCTGCGTCTCTCAGTGGTGGCGTCTTTCACCTGGTGTTCCTGTGTCTCTGTTTATTCCAGTTTCTCTCCCCAGCATTATTGCTTGCCTTGCCTGGCACAGAATTCCTGCGCAAGGCTGACCAGGGGTCCCAGGGTGTAGAAGCAGTGACCCTTCTCCTTCAGGACCATGGTTGGGAGAGACTCTTTAAAAATGCTGCAGTTCCGAGTTAGTTGTTTTGATA... | ATCTTTGATTTGTTGATAGTTATGATTTGTTGTGGATTCTTTCTTGGTATCTGACATTATTTGGAAACAATATCTGAGCAAAAGTCTTTCGTTTCTTGCCCTGCGTCTCTCAGTGGTGGCGTCTTTCACCTGGTGTTCCTGTGTCTCTGTTTATTCCAGTTTCTCTCCCCAGCATTATTGCTTGCCTTGCCTGGCACAGAATTCCTGCGCAAGGCTGACCAGGGGTCCCAGGGTGTAGAAGCAGTGACCCTTCTCCTTCAGGACCATGGTTGGGAGAGACTCTTTAAAAATGCTGCAGTTCCGAGTTAGTTGTTTTGATA... | benign | 237,156 |
Is the genetic mutation found on chromosome 15 at position 80989711, within the gene MESD, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | ATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATGCACCCGCCTTTGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCAACCTGTCTTTTTACTACATTATGTGGCCCTGCTATTCACAAAATCAATCAATTGCCCAGGCATGGTGGCTCACGCCCGTAATCCCAACACTTTGGGAAGCCAAGGTGGGAGGACTGCAAAGGCCAAGAGTTCAAAACCAGCCCAGCCAACATAAGGAGACCCTGTCTCTATAAAAAATAATTTAAAAAACAAA... | ATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATGCACCCGCCTTTGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCAACCTGTCTTTTTACTACATTATGTGGCCCTGCTATTCACAAAATCAATCAATTGCCCAGGCATGGTGGCTCACGCCCGTAATCCCAACACTTTGGGAAGCCAAGGTGGGAGGACTGCAAAGGCCAAGAGTTCAAAACCAGCCCAGCCAACATAAGGAGACCCTGTCTCTATAAAAAATAATTTAAAAAACAAA... | pathogenic | 237,218 |
Is the genetic mutation found on chromosome 15 at position 82661861, within the gene AP3B2, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_48'] | TCATCATTTCCCCTCTACTGGTGGCCTAGTACCTGTACTCATCAGATGTCCCACAAGGAACACGACCCAGGTTGGCAGTGGCAGTCACTTTCTGCACCACAATGTGGTCACTCCGACAGGTGTCTGGCAGCATGAGTTTCTCTGTGATCTCATTCATGCCCATCAGCTTTCCTGGGGGTAGAGGTCGTGATGAGGGCAGAGGCCATGGTGGGTACAGAGGCCAGCACCTGGGTCTGCTTACTGAGCAACAAGTTCTCCCAGGCTGGGAAGGTATCATGCAAAGGGCAGGTCAGAATTTAAATCATCAGTCTTGGGGAGAA... | TCATCATTTCCCCTCTACTGGTGGCCTAGTACCTGTACTCATCAGATGTCCCACAAGGAACACGACCCAGGTTGGCAGTGGCAGTCACTTTCTGCACCACAATGTGGTCACTCCGACAGGTGTCTGGCAGCATGAGTTTCTCTGTGATCTCATTCATGCCCATCAGCTTTCCTGGGGGTAGAGGTCGTGATGAGGGCAGAGGCCATGGTGGGTACAGAGGCCAGCACCTGGGTCTGCTTACTGAGCAACAAGTTCTCCCAGGCTGGGAAGGTATCATGCAAAGGGCAGGTCAGAATTTAAATCATCAGTCTTGGGGAGAA... | pathogenic | 237,264 |
Variant at chromosome position 82663147, chromosome 15, gene AP3B2: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic | CCTCCCCTCCTCTTTCTTCTGCAGAATTCAGGTTTTCCCCCAAGGTTCTGTCCTTGGCCTTCCTATTTTCTCCCACCTCCCAGAGTGATCTCATTCATATTCACAGCTTCCATTACCACCTCTATGTTCATGACTCCAGCTTCAAAGTGTTTCCTGGGCATAGACCCATATTTTCAGTTGCATACTAAATAGCTCCTCCTGAATTTCCCAAATGCATTTCAAAATCAGCTTATCCAAAACTAACCATGATCTTCCCTCCTCCCTTGCCCAAGCCACTCTTCTTTCTTCTAGGCCAGAGGTTTTGCAAATTACAGCCTCCA... | CCTCCCCTCCTCTTTCTTCTGCAGAATTCAGGTTTTCCCCCAAGGTTCTGTCCTTGGCCTTCCTATTTTCTCCCACCTCCCAGAGTGATCTCATTCATATTCACAGCTTCCATTACCACCTCTATGTTCATGACTCCAGCTTCAAAGTGTTTCCTGGGCATAGACCCATATTTTCAGTTGCATACTAAATAGCTCCTCCTGAATTTCCCAAATGCATTTCAAAATCAGCTTATCCAAAACTAACCATGATCTTCCCTCCTCCCTTGCCCAAGCCACTCTTCTTTCTTCTAGGCCAGAGGTTTTGCAAATTACAGCCTCCA... | pathogenic | 237,270 |
Clinical significance of chromosome 15, position 82665468, gene AP3B2: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_48'] | CTCTCAGGCCTGAAGATATGTTCTGTCTGCTCCCCTGCTCCCACAAGACCTGAGGAACCCGATCCAGAGTCCCTATGGGCTGTTCTAATTCATGCTCCCCAGGCCTCCTTTCCCCTGTGACTTTTACCACCCAAACTCACAATCCTCTAGATCAAGCAGGGAGATCTCCTTGGTTGCAGGAGCACTTTTGCTGCTGGGAGGCTGAAAGAGAAAAATGGGATGTGGGTGTGGGGAAGGGGAGCACCTTGGCATGTTCTGGGTTGGGTAGAAGATGTCATGTTCTGTTCTGGATGGTAGGGAGATAGATGTCTGGGCCTGGC... | CTCTCAGGCCTGAAGATATGTTCTGTCTGCTCCCCTGCTCCCACAAGACCTGAGGAACCCGATCCAGAGTCCCTATGGGCTGTTCTAATTCATGCTCCCCAGGCCTCCTTTCCCCTGTGACTTTTACCACCCAAACTCACAATCCTCTAGATCAAGCAGGGAGATCTCCTTGGTTGCAGGAGCACTTTTGCTGCTGGGAGGCTGAAAGAGAAAAATGGGATGTGGGTGTGGGGAAGGGGAGCACCTTGGCATGTTCTGGGTTGGGTAGAAGATGTCATGTTCTGTTCTGGATGGTAGGGAGATAGATGTCTGGGCCTGGC... | pathogenic | 237,274 |
Is the variant located on chromosome 15 at position 84643509, gene WDR73 (WD repeat domain 73), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Galloway-Mowat_syndrome_1'] | CTTTAGTTACTTGAAAAAAGGTATAACTGAATTATGAGTGTTTATGATTTTATCTTTATTTTATTTTTTTTGAGATGGAGTCTCACCCTGTCACCCAGGCTGGAATGCAGTGGCACAATCTCGGTTCACTGCAGCCTCTACCTCTCAGGTTCAAGCAATTCTCCTGCCTCACCCTCCTGAGTAGTGGGGATTACAGGTGTGCCACCACCATGCCCGTCTCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCCCCCACAA... | CTTTAGTTACTTGAAAAAAGGTATAACTGAATTATGAGTGTTTATGATTTTATCTTTATTTTATTTTTTTTGAGATGGAGTCTCACCCTGTCACCCAGGCTGGAATGCAGTGGCACAATCTCGGTTCACTGCAGCCTCTACCTCTCAGGTTCAAGCAATTCTCCTGCCTCACCCTCCTGAGTAGTGGGGATTACAGGTGTGCCACCACCATGCCCGTCTCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCCCCCACAA... | pathogenic | 237,381 |
Determine if the mutation at chromosome 15, position 84643645 in gene WDR73 (WD repeat domain 73) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TCTACCTCTCAGGTTCAAGCAATTCTCCTGCCTCACCCTCCTGAGTAGTGGGGATTACAGGTGTGCCACCACCATGCCCGTCTCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCCCCCACAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGTCTATCTTTAAATTCCTATCTGAATTTGTTTAGGTTTTTTAAATAAAAATCTTTCTTTTTTTTTAGAGACAGGGGTTCACCATGGTGCCCAGGCTGATCT... | TCTACCTCTCAGGTTCAAGCAATTCTCCTGCCTCACCCTCCTGAGTAGTGGGGATTACAGGTGTGCCACCACCATGCCCGTCTCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCCCCCACAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGTCTATCTTTAAATTCCTATCTGAATTTGTTTAGGTTTTTTAAATAAAAATCTTTCTTTTTTTTTAGAGACAGGGGTTCACCATGGTGCCCAGGCTGATCT... | benign | 237,384 |
Is chromosome 15, position 84643718, gene WDR73 (WD repeat domain 73) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Galloway-Mowat_syndrome_1', 'WDR73-related_disorder'] | ATGCCCGTCTCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCCCCCACAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGTCTATCTTTAAATTCCTATCTGAATTTGTTTAGGTTTTTTAAATAAAAATCTTTCTTTTTTTTTAGAGACAGGGGTTCACCATGGTGCCCAGGCTGATCTCGAACTCCTCCTGGACTCAAGCTATCCTCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGACATGAGCCAC... | ATGCCCGTCTCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCCCCCACAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGTCTATCTTTAAATTCCTATCTGAATTTGTTTAGGTTTTTTAAATAAAAATCTTTCTTTTTTTTTAGAGACAGGGGTTCACCATGGTGCCCAGGCTGATCTCGAACTCCTCCTGGACTCAAGCTATCCTCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGACATGAGCCAC... | pathogenic | 237,385 |
Benign or pathogenic: chromosome 15, position 84645587, gene WDR73 (WD repeat domain 73) variant? Disease(s) if pathogenic? | pathogenic; ['Galloway-Mowat_syndrome_1'] | AGTCCTTGGTCTGCAGGGATGCCAGGTGTGGGTGGTGACCAAAGGAGCAGGGTCCATCCCATTTCCATCTAGGAAGATGTGACCTCTGTGAGTGAAGAGAGGTTCTACTTGGCTCCGTGTTCCATCTTGGCTCCGTGTTCCATCCCAAGATGTGGCATCATAGACCTGGACTGTACCATCAAAACCTGAGAATACAGAAAAGAGAGGCTTGACAATGAGTCCCTAATTTTATTTTAAAATAATTTTCTTTCTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAGGATGGTCTTGAACTCCTAGCCTCAAGCGATC... | AGTCCTTGGTCTGCAGGGATGCCAGGTGTGGGTGGTGACCAAAGGAGCAGGGTCCATCCCATTTCCATCTAGGAAGATGTGACCTCTGTGAGTGAAGAGAGGTTCTACTTGGCTCCGTGTTCCATCTTGGCTCCGTGTTCCATCCCAAGATGTGGCATCATAGACCTGGACTGTACCATCAAAACCTGAGAATACAGAAAAGAGAGGCTTGACAATGAGTCCCTAATTTTATTTTAAAATAATTTTCTTTCTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAGGATGGTCTTGAACTCCTAGCCTCAAGCGATC... | pathogenic | 237,392 |
Located at chromosome 15 position 84645634, the variant affecting gene WDR73 (WD repeat domain 73)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Galloway-Mowat_syndrome_1'] | CAGGGTCCATCCCATTTCCATCTAGGAAGATGTGACCTCTGTGAGTGAAGAGAGGTTCTACTTGGCTCCGTGTTCCATCTTGGCTCCGTGTTCCATCCCAAGATGTGGCATCATAGACCTGGACTGTACCATCAAAACCTGAGAATACAGAAAAGAGAGGCTTGACAATGAGTCCCTAATTTTATTTTAAAATAATTTTCTTTCTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAGGATGGTCTTGAACTCCTAGCCTCAAGCGATCCTCCCATCTCAGCCTCCCAAAATGCTGGGATTACAGGCACCCAGCCC... | CAGGGTCCATCCCATTTCCATCTAGGAAGATGTGACCTCTGTGAGTGAAGAGAGGTTCTACTTGGCTCCGTGTTCCATCTTGGCTCCGTGTTCCATCCCAAGATGTGGCATCATAGACCTGGACTGTACCATCAAAACCTGAGAATACAGAAAAGAGAGGCTTGACAATGAGTCCCTAATTTTATTTTAAAATAATTTTCTTTCTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAGGATGGTCTTGAACTCCTAGCCTCAAGCGATCCTCCCATCTCAGCCTCCCAAAATGCTGGGATTACAGGCACCCAGCCC... | pathogenic | 237,394 |
A genetic variant on chromosome 15, position 84645643, affects the gene WDR73 (WD repeat domain 73). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Galloway-Mowat_syndrome_1'] | TCCCATTTCCATCTAGGAAGATGTGACCTCTGTGAGTGAAGAGAGGTTCTACTTGGCTCCGTGTTCCATCTTGGCTCCGTGTTCCATCCCAAGATGTGGCATCATAGACCTGGACTGTACCATCAAAACCTGAGAATACAGAAAAGAGAGGCTTGACAATGAGTCCCTAATTTTATTTTAAAATAATTTTCTTTCTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAGGATGGTCTTGAACTCCTAGCCTCAAGCGATCCTCCCATCTCAGCCTCCCAAAATGCTGGGATTACAGGCACCCAGCCCCTAAAATAC... | TCCCATTTCCATCTAGGAAGATGTGACCTCTGTGAGTGAAGAGAGGTTCTACTTGGCTCCGTGTTCCATCTTGGCTCCGTGTTCCATCCCAAGATGTGGCATCATAGACCTGGACTGTACCATCAAAACCTGAGAATACAGAAAAGAGAGGCTTGACAATGAGTCCCTAATTTTATTTTAAAATAATTTTCTTTCTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAGGATGGTCTTGAACTCCTAGCCTCAAGCGATCCTCCCATCTCAGCCTCCCAAAATGCTGGGATTACAGGCACCCAGCCCCTAAAATAC... | pathogenic | 237,395 |
Variant at chromosome 15, position 84645788, gene WDR73 (WD repeat domain 73): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Galloway-Mowat_syndrome_1'] | GAGAGGCTTGACAATGAGTCCCTAATTTTATTTTAAAATAATTTTCTTTCTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAGGATGGTCTTGAACTCCTAGCCTCAAGCGATCCTCCCATCTCAGCCTCCCAAAATGCTGGGATTACAGGCACCCAGCCCCTAAAATACTTTTTATAATTTGTTCTATGGTACCAAAACAGGCTATTGGATGAGGAATCAAGGCACTTAAAAGGCTAACCACGGGCAAGTAGCATCTGCCCTCAGTGTTGGCAGCTGATGACTCCGTGGGGCATGTAACCATGAGCATCCGTTG... | GAGAGGCTTGACAATGAGTCCCTAATTTTATTTTAAAATAATTTTCTTTCTATTTTTAATAGAGATGGGGTTTCACCATGTTGACCAGGATGGTCTTGAACTCCTAGCCTCAAGCGATCCTCCCATCTCAGCCTCCCAAAATGCTGGGATTACAGGCACCCAGCCCCTAAAATACTTTTTATAATTTGTTCTATGGTACCAAAACAGGCTATTGGATGAGGAATCAAGGCACTTAAAAGGCTAACCACGGGCAAGTAGCATCTGCCCTCAGTGTTGGCAGCTGATGACTCCGTGGGGCATGTAACCATGAGCATCCGTTG... | pathogenic | 237,398 |
Clinical significance of chromosome 15, position 84817508, gene ALPK3 (alpha kinase 3): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype'] | GATTTAAACAAATGAACCAGAACTCCAAGTGGGTTTTCAAATATTTGAAAGACTACCCTGTAGATGACTGAAGATTCTGTGCACCTCCAGAGAGCCAAGAGCAAGAATGAATGGGGACATGTGATCAAGAGATGAATTTGGGATCACTAGGAGAGAACACATTAGTATTGGTCAGGATACTTCTACCAACAGAAGCCTAAATTGGAAATAGCAAAGGGAGAACTTTTTTGGTACACAGATTCCAAGGAAAGTTTGAACTGCCAACCTGCAGGAAGGCCAGGGACAAAGCTGGAACCCAGGAACACCTGAACGAGGGCACC... | GATTTAAACAAATGAACCAGAACTCCAAGTGGGTTTTCAAATATTTGAAAGACTACCCTGTAGATGACTGAAGATTCTGTGCACCTCCAGAGAGCCAAGAGCAAGAATGAATGGGGACATGTGATCAAGAGATGAATTTGGGATCACTAGGAGAGAACACATTAGTATTGGTCAGGATACTTCTACCAACAGAAGCCTAAATTGGAAATAGCAAAGGGAGAACTTTTTTGGTACACAGATTCCAAGGAAAGTTTGAACTGCCAACCTGCAGGAAGGCCAGGGACAAAGCTGGAACCCAGGAACACCTGAACGAGGGCACC... | pathogenic | 237,460 |
Gene ALPK3 (alpha kinase 3) variant at chromosome position 84817513 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiomyopathy,_familial_hypertrophic_27', 'Cardiovascular_phenotype'] | AAACAAATGAACCAGAACTCCAAGTGGGTTTTCAAATATTTGAAAGACTACCCTGTAGATGACTGAAGATTCTGTGCACCTCCAGAGAGCCAAGAGCAAGAATGAATGGGGACATGTGATCAAGAGATGAATTTGGGATCACTAGGAGAGAACACATTAGTATTGGTCAGGATACTTCTACCAACAGAAGCCTAAATTGGAAATAGCAAAGGGAGAACTTTTTTGGTACACAGATTCCAAGGAAAGTTTGAACTGCCAACCTGCAGGAAGGCCAGGGACAAAGCTGGAACCCAGGAACACCTGAACGAGGGCACCTGAAA... | AAACAAATGAACCAGAACTCCAAGTGGGTTTTCAAATATTTGAAAGACTACCCTGTAGATGACTGAAGATTCTGTGCACCTCCAGAGAGCCAAGAGCAAGAATGAATGGGGACATGTGATCAAGAGATGAATTTGGGATCACTAGGAGAGAACACATTAGTATTGGTCAGGATACTTCTACCAACAGAAGCCTAAATTGGAAATAGCAAAGGGAGAACTTTTTTGGTACACAGATTCCAAGGAAAGTTTGAACTGCCAACCTGCAGGAAGGCCAGGGACAAAGCTGGAACCCAGGAACACCTGAACGAGGGCACCTGAAA... | pathogenic | 237,461 |
The genetic variant at chromosome 15, position 84817559, affecting gene ALPK3 (alpha kinase 3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiomyopathy,_familial_hypertrophic_27', 'Cardiovascular_phenotype'] | ACTACCCTGTAGATGACTGAAGATTCTGTGCACCTCCAGAGAGCCAAGAGCAAGAATGAATGGGGACATGTGATCAAGAGATGAATTTGGGATCACTAGGAGAGAACACATTAGTATTGGTCAGGATACTTCTACCAACAGAAGCCTAAATTGGAAATAGCAAAGGGAGAACTTTTTTGGTACACAGATTCCAAGGAAAGTTTGAACTGCCAACCTGCAGGAAGGCCAGGGACAAAGCTGGAACCCAGGAACACCTGAACGAGGGCACCTGAAAGCCACCAGGACCCTGTGTCCTTTGCCTCTGCTTCTCTCTGTGCTAG... | ACTACCCTGTAGATGACTGAAGATTCTGTGCACCTCCAGAGAGCCAAGAGCAAGAATGAATGGGGACATGTGATCAAGAGATGAATTTGGGATCACTAGGAGAGAACACATTAGTATTGGTCAGGATACTTCTACCAACAGAAGCCTAAATTGGAAATAGCAAAGGGAGAACTTTTTTGGTACACAGATTCCAAGGAAAGTTTGAACTGCCAACCTGCAGGAAGGCCAGGGACAAAGCTGGAACCCAGGAACACCTGAACGAGGGCACCTGAAAGCCACCAGGACCCTGTGTCCTTTGCCTCTGCTTCTCTCTGTGCTAG... | pathogenic | 237,465 |
Variant on chromosome 15, at position 84827597, affecting ALPK3 (alpha kinase 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiomyopathy,_familial_hypertrophic_27', 'Cardiovascular_phenotype'] | ATCCAGTAGCTGAAATGATTTCCTTAGACTTGTCCAGGCGGCTTCATACCTAGGAGCTTAAGCTGAATATTGGATCCAGGCTCAAGGTCATGGATGAGATAGGATTCAAATTATGCAGGGAGGACATAATTAGGGATGGTTTGAATTAATTGCAGACTCATGGAAGTAGGATTATGTTTAGCCTGGTGGTTTCTGGAAAGTGTTGATTGAGATTTGATATTTCCCCAAATCAGAAATTGCTGTTAGTATGATAGCAGCAAGAAACGTTTTCAGATATTAACACTTCCTGAGTGTTCAGGGAGTTAATAGCCTAGGCCCTG... | ATCCAGTAGCTGAAATGATTTCCTTAGACTTGTCCAGGCGGCTTCATACCTAGGAGCTTAAGCTGAATATTGGATCCAGGCTCAAGGTCATGGATGAGATAGGATTCAAATTATGCAGGGAGGACATAATTAGGGATGGTTTGAATTAATTGCAGACTCATGGAAGTAGGATTATGTTTAGCCTGGTGGTTTCTGGAAAGTGTTGATTGAGATTTGATATTTCCCCAAATCAGAAATTGCTGTTAGTATGATAGCAGCAAGAAACGTTTTCAGATATTAACACTTCCTGAGTGTTCAGGGAGTTAATAGCCTAGGCCCTG... | pathogenic | 237,484 |
Benign or pathogenic: chromosome 15, position 84839057, gene ALPK3 (alpha kinase 3) variant? Disease(s) if pathogenic? | pathogenic | GGGTTAGGCAGATGGGCATAGGAATTGGATTTGGCAATGTACAAGTCATGGGTGACTGACAAGAGCAATTCTGGTGCAAGAGAGGCTATAAAGTCTGATTTGAGGAAGGAAAATGAAGATAGTGAGTACAGGCAGCTCTTTCAAAGAATTTTTCTGTAAAGCAGAGAGCAGAGAAATGAGAGCAGGGGCTGGAGGAGGCTGTGGGGTCAAAGGAATTTCTTTTTAAAGAAGGACACAGTAGAGCAGGCTTGTACGCTGATGAGAAAGATGTAACAGAGAGGAAAAGTCTGATGATGCAGGAGCGAGCAGGAATAATTGCT... | GGGTTAGGCAGATGGGCATAGGAATTGGATTTGGCAATGTACAAGTCATGGGTGACTGACAAGAGCAATTCTGGTGCAAGAGAGGCTATAAAGTCTGATTTGAGGAAGGAAAATGAAGATAGTGAGTACAGGCAGCTCTTTCAAAGAATTTTTCTGTAAAGCAGAGAGCAGAGAAATGAGAGCAGGGGCTGGAGGAGGCTGTGGGGTCAAAGGAATTTCTTTTTAAAGAAGGACACAGTAGAGCAGGCTTGTACGCTGATGAGAAAGATGTAACAGAGAGGAAAAGTCTGATGATGCAGGAGCGAGCAGGAATAATTGCT... | pathogenic | 237,488 |
Gene ALPK3 (alpha kinase 3) variant at chromosome 15, position 84839681—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | AGATCAGTCAGCTTAAGAAATGAAGCAGGATTCATTGGTAAGTCCAGAGGGGCTTCTTATGGAATTGACAAGAGGAGGGCAGCTGTGCCCAGGCAAGGAATGGAACTAGTACTTGGAAGCATCTTGCAACTCTCTCTGTCTTCCACCTCTTATTCAATCCTGAACATCAACTTCCTTTTTCCATCTCTCACTGTAGTGTTTGCTTCTCAGTCCATGTGGCAGAACATGGCTGCTCTACTCTTTTGAAGCTAAATTTTTCAGATACAATGGTAGACTGTCTCTAGGTCCTAATTCCCAAATACCTGGTCAAAGAATTAGCT... | AGATCAGTCAGCTTAAGAAATGAAGCAGGATTCATTGGTAAGTCCAGAGGGGCTTCTTATGGAATTGACAAGAGGAGGGCAGCTGTGCCCAGGCAAGGAATGGAACTAGTACTTGGAAGCATCTTGCAACTCTCTCTGTCTTCCACCTCTTATTCAATCCTGAACATCAACTTCCTTTTTCCATCTCTCACTGTAGTGTTTGCTTCTCAGTCCATGTGGCAGAACATGGCTGCTCTACTCTTTTGAAGCTAAATTTTTCAGATACAATGGTAGACTGTCTCTAGGTCCTAATTCCCAAATACCTGGTCAAAGAATTAGCT... | benign | 237,492 |
Clinically, how would you classify the variant at chromosome 15, position 84839700, gene ALPK3 (alpha kinase 3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cardiovascular_phenotype'] | ATGAAGCAGGATTCATTGGTAAGTCCAGAGGGGCTTCTTATGGAATTGACAAGAGGAGGGCAGCTGTGCCCAGGCAAGGAATGGAACTAGTACTTGGAAGCATCTTGCAACTCTCTCTGTCTTCCACCTCTTATTCAATCCTGAACATCAACTTCCTTTTTCCATCTCTCACTGTAGTGTTTGCTTCTCAGTCCATGTGGCAGAACATGGCTGCTCTACTCTTTTGAAGCTAAATTTTTCAGATACAATGGTAGACTGTCTCTAGGTCCTAATTCCCAAATACCTGGTCAAAGAATTAGCTAGATTAGCTGATCTGGTGT... | ATGAAGCAGGATTCATTGGTAAGTCCAGAGGGGCTTCTTATGGAATTGACAAGAGGAGGGCAGCTGTGCCCAGGCAAGGAATGGAACTAGTACTTGGAAGCATCTTGCAACTCTCTCTGTCTTCCACCTCTTATTCAATCCTGAACATCAACTTCCTTTTTCCATCTCTCACTGTAGTGTTTGCTTCTCAGTCCATGTGGCAGAACATGGCTGCTCTACTCTTTTGAAGCTAAATTTTTCAGATACAATGGTAGACTGTCTCTAGGTCCTAATTCCCAAATACCTGGTCAAAGAATTAGCTAGATTAGCTGATCTGGTGT... | pathogenic | 237,493 |
Evaluate if the mutation on chromosome 15 at position 84839806 in ALPK3 (alpha kinase 3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | GCAACTCTCTCTGTCTTCCACCTCTTATTCAATCCTGAACATCAACTTCCTTTTTCCATCTCTCACTGTAGTGTTTGCTTCTCAGTCCATGTGGCAGAACATGGCTGCTCTACTCTTTTGAAGCTAAATTTTTCAGATACAATGGTAGACTGTCTCTAGGTCCTAATTCCCAAATACCTGGTCAAAGAATTAGCTAGATTAGCTGATCTGGTGTCCGTTACTGGACCAATCCACTATGGCCAGAGAGGTAAGGGACACGTGACAGTAACAGCTGGGAGCTCCTCCTGTGGGTGGGCTGGAAGTGCCCAGAGAAGGGGCTG... | GCAACTCTCTCTGTCTTCCACCTCTTATTCAATCCTGAACATCAACTTCCTTTTTCCATCTCTCACTGTAGTGTTTGCTTCTCAGTCCATGTGGCAGAACATGGCTGCTCTACTCTTTTGAAGCTAAATTTTTCAGATACAATGGTAGACTGTCTCTAGGTCCTAATTCCCAAATACCTGGTCAAAGAATTAGCTAGATTAGCTGATCTGGTGTCCGTTACTGGACCAATCCACTATGGCCAGAGAGGTAAGGGACACGTGACAGTAACAGCTGGGAGCTCCTCCTGTGGGTGGGCTGGAAGTGCCCAGAGAAGGGGCTG... | pathogenic | 237,500 |
Benign or pathogenic: chromosome 15, position 84839843, gene ALPK3 (alpha kinase 3) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype'] | AACATCAACTTCCTTTTTCCATCTCTCACTGTAGTGTTTGCTTCTCAGTCCATGTGGCAGAACATGGCTGCTCTACTCTTTTGAAGCTAAATTTTTCAGATACAATGGTAGACTGTCTCTAGGTCCTAATTCCCAAATACCTGGTCAAAGAATTAGCTAGATTAGCTGATCTGGTGTCCGTTACTGGACCAATCCACTATGGCCAGAGAGGTAAGGGACACGTGACAGTAACAGCTGGGAGCTCCTCCTGTGGGTGGGCTGGAAGTGCCCAGAGAAGGGGCTGGGCAGACACCTCAGTCGGTGTCACTGCAGTGACAGGG... | AACATCAACTTCCTTTTTCCATCTCTCACTGTAGTGTTTGCTTCTCAGTCCATGTGGCAGAACATGGCTGCTCTACTCTTTTGAAGCTAAATTTTTCAGATACAATGGTAGACTGTCTCTAGGTCCTAATTCCCAAATACCTGGTCAAAGAATTAGCTAGATTAGCTGATCTGGTGTCCGTTACTGGACCAATCCACTATGGCCAGAGAGGTAAGGGACACGTGACAGTAACAGCTGGGAGCTCCTCCTGTGGGTGGGCTGGAAGTGCCCAGAGAAGGGGCTGGGCAGACACCTCAGTCGGTGTCACTGCAGTGACAGGG... | pathogenic | 237,502 |
Clinical significance of chromosome 15, position 84839912, gene ALPK3 (alpha kinase 3): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype'] | GCTCTACTCTTTTGAAGCTAAATTTTTCAGATACAATGGTAGACTGTCTCTAGGTCCTAATTCCCAAATACCTGGTCAAAGAATTAGCTAGATTAGCTGATCTGGTGTCCGTTACTGGACCAATCCACTATGGCCAGAGAGGTAAGGGACACGTGACAGTAACAGCTGGGAGCTCCTCCTGTGGGTGGGCTGGAAGTGCCCAGAGAAGGGGCTGGGCAGACACCTCAGTCGGTGTCACTGCAGTGACAGGGTGGGTAGGAAGGTGTAGATGTGTGGACAGATGGATAATAGGTAAATGAATGAACGGGTGGACAGATAGA... | GCTCTACTCTTTTGAAGCTAAATTTTTCAGATACAATGGTAGACTGTCTCTAGGTCCTAATTCCCAAATACCTGGTCAAAGAATTAGCTAGATTAGCTGATCTGGTGTCCGTTACTGGACCAATCCACTATGGCCAGAGAGGTAAGGGACACGTGACAGTAACAGCTGGGAGCTCCTCCTGTGGGTGGGCTGGAAGTGCCCAGAGAAGGGGCTGGGCAGACACCTCAGTCGGTGTCACTGCAGTGACAGGGTGGGTAGGAAGGTGTAGATGTGTGGACAGATGGATAATAGGTAAATGAATGAACGGGTGGACAGATAGA... | pathogenic | 237,511 |
The chromosome 15, position 84839966 genetic variant in gene ALPK3 (alpha kinase 3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype'] | TCCTAATTCCCAAATACCTGGTCAAAGAATTAGCTAGATTAGCTGATCTGGTGTCCGTTACTGGACCAATCCACTATGGCCAGAGAGGTAAGGGACACGTGACAGTAACAGCTGGGAGCTCCTCCTGTGGGTGGGCTGGAAGTGCCCAGAGAAGGGGCTGGGCAGACACCTCAGTCGGTGTCACTGCAGTGACAGGGTGGGTAGGAAGGTGTAGATGTGTGGACAGATGGATAATAGGTAAATGAATGAACGGGTGGACAGATAGATGCTTTAGCCATGTTTTCAAATAATCCTAACAGCTCAGGAACCTGAAATGAAAG... | TCCTAATTCCCAAATACCTGGTCAAAGAATTAGCTAGATTAGCTGATCTGGTGTCCGTTACTGGACCAATCCACTATGGCCAGAGAGGTAAGGGACACGTGACAGTAACAGCTGGGAGCTCCTCCTGTGGGTGGGCTGGAAGTGCCCAGAGAAGGGGCTGGGCAGACACCTCAGTCGGTGTCACTGCAGTGACAGGGTGGGTAGGAAGGTGTAGATGTGTGGACAGATGGATAATAGGTAAATGAATGAACGGGTGGACAGATAGATGCTTTAGCCATGTTTTCAAATAATCCTAACAGCTCAGGAACCTGAAATGAAAG... | pathogenic | 237,519 |
Evaluate if the mutation on chromosome 15 at position 84840313 in ALPK3 (alpha kinase 3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiomyopathy'] | TGGTGGGACATAAGGGAGGAGACCCCTGAGGATAGAGCCCTTACTGCAGTTGAGGAAGTAGAATGGGCCACTATAGAAGGAAGCTTATTCCCAGTAGCCAAGGATTTCTGGAAACTCCTTGTCTCCCTTCCCATTAGGAAGCTAGAAAGTTTCTCCTCCATATTTTCCTTCCTATTGCTGAAGGGGAATTGTTTTCAGCTTTGACAGGGACCAGCTTCTAAAAATAAGCTGAGCTATCATACAGTGGCTCGGTTCTTCCAGCAAGCCTGGGGCAGGTGGTCCTGTCCAGTCTCTTCAGGTGGTCTGGGAAGCCACGGCCT... | TGGTGGGACATAAGGGAGGAGACCCCTGAGGATAGAGCCCTTACTGCAGTTGAGGAAGTAGAATGGGCCACTATAGAAGGAAGCTTATTCCCAGTAGCCAAGGATTTCTGGAAACTCCTTGTCTCCCTTCCCATTAGGAAGCTAGAAAGTTTCTCCTCCATATTTTCCTTCCTATTGCTGAAGGGGAATTGTTTTCAGCTTTGACAGGGACCAGCTTCTAAAAATAAGCTGAGCTATCATACAGTGGCTCGGTTCTTCCAGCAAGCCTGGGGCAGGTGGTCCTGTCCAGTCTCTTCAGGTGGTCTGGGAAGCCACGGCCT... | pathogenic | 237,541 |
Clinical significance of chromosome 15, position 84840596, gene ALPK3 (alpha kinase 3): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype'] | GTCCAGTCTCTTCAGGTGGTCTGGGAAGCCACGGCCTCGTGTTCTCTCCTCCCATTATTATTATTATTATTATTATTATTATTATTATTATTGAGATGGAGTCTCACTATCGCCTAGGCTAGAGTGCAGTGGCAAGATCTTGGCTCACTGCAACCTCGGACTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGCAGCTGGGATTACAGGAGCCCGCCACCACGTCCGGGTAATTTTTTTGTAGTTTTAGTAGAGACTGGGTTTTACCATGTTGACCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCTGCC... | GTCCAGTCTCTTCAGGTGGTCTGGGAAGCCACGGCCTCGTGTTCTCTCCTCCCATTATTATTATTATTATTATTATTATTATTATTATTATTGAGATGGAGTCTCACTATCGCCTAGGCTAGAGTGCAGTGGCAAGATCTTGGCTCACTGCAACCTCGGACTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGCAGCTGGGATTACAGGAGCCCGCCACCACGTCCGGGTAATTTTTTTGTAGTTTTAGTAGAGACTGGGTTTTACCATGTTGACCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCTGCC... | pathogenic | 237,550 |
Variant at chromosome position 84840690, chromosome 15, gene ALPK3 (alpha kinase 3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype'] | GATGGAGTCTCACTATCGCCTAGGCTAGAGTGCAGTGGCAAGATCTTGGCTCACTGCAACCTCGGACTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGCAGCTGGGATTACAGGAGCCCGCCACCACGTCCGGGTAATTTTTTTGTAGTTTTAGTAGAGACTGGGTTTTACCATGTTGACCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTTCCCATTATTTTGGAACTGGCCTTGCTGTAACCCAGT... | GATGGAGTCTCACTATCGCCTAGGCTAGAGTGCAGTGGCAAGATCTTGGCTCACTGCAACCTCGGACTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGCAGCTGGGATTACAGGAGCCCGCCACCACGTCCGGGTAATTTTTTTGTAGTTTTAGTAGAGACTGGGTTTTACCATGTTGACCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTTCCCATTATTTTGGAACTGGCCTTGCTGTAACCCAGT... | pathogenic | 237,557 |
Is the genetic change at chromosome 15, position 84840690, within gene ALPK3 (alpha kinase 3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['ALPK3-related_disorder', 'Cardiomyopathy', 'Cardiovascular_phenotype'] | GATGGAGTCTCACTATCGCCTAGGCTAGAGTGCAGTGGCAAGATCTTGGCTCACTGCAACCTCGGACTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGCAGCTGGGATTACAGGAGCCCGCCACCACGTCCGGGTAATTTTTTTGTAGTTTTAGTAGAGACTGGGTTTTACCATGTTGACCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTTCCCATTATTTTGGAACTGGCCTTGCTGTAACCCAGT... | GATGGAGTCTCACTATCGCCTAGGCTAGAGTGCAGTGGCAAGATCTTGGCTCACTGCAACCTCGGACTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGCAGCTGGGATTACAGGAGCCCGCCACCACGTCCGGGTAATTTTTTTGTAGTTTTAGTAGAGACTGGGTTTTACCATGTTGACCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTTCCCATTATTTTGGAACTGGCCTTGCTGTAACCCAGT... | pathogenic | 237,558 |
A genetic variant on chromosome 15, position 84840716, affects the gene ALPK3 (alpha kinase 3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiovascular_phenotype'] | AGAGTGCAGTGGCAAGATCTTGGCTCACTGCAACCTCGGACTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGCAGCTGGGATTACAGGAGCCCGCCACCACGTCCGGGTAATTTTTTTGTAGTTTTAGTAGAGACTGGGTTTTACCATGTTGACCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTTCCCATTATTTTGGAACTGGCCTTGCTGTAACCCAGTCTCCTGCTTCTTTCTCAGGATACCCA... | AGAGTGCAGTGGCAAGATCTTGGCTCACTGCAACCTCGGACTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGCAGCTGGGATTACAGGAGCCCGCCACCACGTCCGGGTAATTTTTTTGTAGTTTTAGTAGAGACTGGGTTTTACCATGTTGACCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTTCCCATTATTTTGGAACTGGCCTTGCTGTAACCCAGTCTCCTGCTTCTTTCTCAGGATACCCA... | pathogenic | 237,562 |
Regarding the variant at chromosome 15 and position 84856781, affecting gene ALPK3 (alpha kinase 3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cardiomyopathy', 'Cardiovascular_phenotype'] | AGGAAGTTTCTTCCCCTTTCCACTTTCGTGCTGGCTGTGTTGTTTCTGTATCGTCAGGGCATAGAACATTGACATTCTGATTTGCCATTCTAAACCCCACTTGATTTTAGTCTTGCTTCTACAGTTATATGTTAATATGCATTAATATATATGTTAATGTAAGTGAAATATGTTCAGTGCTTACCGTCAGCTCTTTTGCTGTTGTTTTCTCAATCATCTTTTGGTTGACTACATTTGTTCCCTGGTGATTTCCTCAAGCAGGGCTTGTGGGAACAATATTCCTTTAGTCTTTGTATGCTAAAACACAATGTTCTCGGCTT... | AGGAAGTTTCTTCCCCTTTCCACTTTCGTGCTGGCTGTGTTGTTTCTGTATCGTCAGGGCATAGAACATTGACATTCTGATTTGCCATTCTAAACCCCACTTGATTTTAGTCTTGCTTCTACAGTTATATGTTAATATGCATTAATATATATGTTAATGTAAGTGAAATATGTTCAGTGCTTACCGTCAGCTCTTTTGCTGTTGTTTTCTCAATCATCTTTTGGTTGACTACATTTGTTCCCTGGTGATTTCCTCAAGCAGGGCTTGTGGGAACAATATTCCTTTAGTCTTTGTATGCTAAAACACAATGTTCTCGGCTT... | pathogenic | 237,587 |
Evaluate this variant at chromosome 15, position 84856972, gene ALPK3 (alpha kinase 3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiomyopathy,_familial_hypertrophic_27', 'Cardiovascular_phenotype'] | TCTTTTGCTGTTGTTTTCTCAATCATCTTTTGGTTGACTACATTTGTTCCCTGGTGATTTCCTCAAGCAGGGCTTGTGGGAACAATATTCCTTTAGTCTTTGTATGCTAAAACACAATGTTCTCGGCTTAGCAATTTTCCGGAGGTTTCTTCAGGAGTGTAGCTGCCAGCGTTTTCTGAGATCTGCCTCCATTCCATCTCCTCTCCTTGTCTGCTCTGCTCATCTGCCGTGTCTTCGGCCAGTTTCCACCCAGGCCTCCATGACCCTGCAGCTCTTGTTGCACGTGGACTTACGGGTTTATAACCTTGGGGTGACCTTTG... | TCTTTTGCTGTTGTTTTCTCAATCATCTTTTGGTTGACTACATTTGTTCCCTGGTGATTTCCTCAAGCAGGGCTTGTGGGAACAATATTCCTTTAGTCTTTGTATGCTAAAACACAATGTTCTCGGCTTAGCAATTTTCCGGAGGTTTCTTCAGGAGTGTAGCTGCCAGCGTTTTCTGAGATCTGCCTCCATTCCATCTCCTCTCCTTGTCTGCTCTGCTCATCTGCCGTGTCTTCGGCCAGTTTCCACCCAGGCCTCCATGACCCTGCAGCTCTTGTTGCACGTGGACTTACGGGTTTATAACCTTGGGGTGACCTTTG... | pathogenic | 237,598 |
Evaluate this variant at chromosome 15, position 84856981, gene ALPK3 (alpha kinase 3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiovascular_phenotype'] | GTTGTTTTCTCAATCATCTTTTGGTTGACTACATTTGTTCCCTGGTGATTTCCTCAAGCAGGGCTTGTGGGAACAATATTCCTTTAGTCTTTGTATGCTAAAACACAATGTTCTCGGCTTAGCAATTTTCCGGAGGTTTCTTCAGGAGTGTAGCTGCCAGCGTTTTCTGAGATCTGCCTCCATTCCATCTCCTCTCCTTGTCTGCTCTGCTCATCTGCCGTGTCTTCGGCCAGTTTCCACCCAGGCCTCCATGACCCTGCAGCTCTTGTTGCACGTGGACTTACGGGTTTATAACCTTGGGGTGACCTTTGTCTACAGTA... | GTTGTTTTCTCAATCATCTTTTGGTTGACTACATTTGTTCCCTGGTGATTTCCTCAAGCAGGGCTTGTGGGAACAATATTCCTTTAGTCTTTGTATGCTAAAACACAATGTTCTCGGCTTAGCAATTTTCCGGAGGTTTCTTCAGGAGTGTAGCTGCCAGCGTTTTCTGAGATCTGCCTCCATTCCATCTCCTCTCCTTGTCTGCTCTGCTCATCTGCCGTGTCTTCGGCCAGTTTCCACCCAGGCCTCCATGACCCTGCAGCTCTTGTTGCACGTGGACTTACGGGTTTATAACCTTGGGGTGACCTTTGTCTACAGTA... | pathogenic | 237,600 |
Determine if the mutation at chromosome 15, position 84857381 in gene ALPK3 (alpha kinase 3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CATATCACTTTGCTCCTCCTCAGCTTCCCAGTGTCTGCATCTGTTGGCTTTTGGCAGCTGTTATCCTTTTGTTTGTTTTTTGAGACTGTAGGTTTTATTTGCCTCCAGTTTCACTAACAAAGGAGTTTGCTTTGTTTATTTCATGTTTACTTTGTTGGTTTTGATGATATCTTGGAGGAAAAAAGGGAAATCACTGTTGTACGCCACCATGTTTGACAGGAAGTCCTTTAAAAGTAGGTGGCGTTATGGTATAACAACAAAGAGCATGGGATTTGGAGTGAGATACACCCGGCTGCGAATCTGAACTCTGCCACTTACTG... | CATATCACTTTGCTCCTCCTCAGCTTCCCAGTGTCTGCATCTGTTGGCTTTTGGCAGCTGTTATCCTTTTGTTTGTTTTTTGAGACTGTAGGTTTTATTTGCCTCCAGTTTCACTAACAAAGGAGTTTGCTTTGTTTATTTCATGTTTACTTTGTTGGTTTTGATGATATCTTGGAGGAAAAAAGGGAAATCACTGTTGTACGCCACCATGTTTGACAGGAAGTCCTTTAAAAGTAGGTGGCGTTATGGTATAACAACAAAGAGCATGGGATTTGGAGTGAGATACACCCGGCTGCGAATCTGAACTCTGCCACTTACTG... | pathogenic | 237,632 |
Chromosome 15, position 84857750, gene ALPK3 (alpha kinase 3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic | AGAATGGGGCTGATTCTCCTAAGTATTCATACTGTATGAGGAGTAAGTGGGGTAATATCATATACAGGGGCCTAGCATAGTGCTTTGCAAGTAGATGTTCAAAAGGGTAACATTATAATGTTTCATTAATTTCCTGGCATAGATGCCATTCAGAATTACTTTAATCCTCTCTGCTTGGATGGCATCCATTATTATCACTCACTCAATGTTACTGGTGGATGCTGTCACTGAGGCCATTATTGGGACACCCTTTGGCACTCTCTCACTTCACCCATAATTCTATCCAAGGCAATTAGTGCCACAGGAGAAGGACTGCTCTG... | AGAATGGGGCTGATTCTCCTAAGTATTCATACTGTATGAGGAGTAAGTGGGGTAATATCATATACAGGGGCCTAGCATAGTGCTTTGCAAGTAGATGTTCAAAAGGGTAACATTATAATGTTTCATTAATTTCCTGGCATAGATGCCATTCAGAATTACTTTAATCCTCTCTGCTTGGATGGCATCCATTATTATCACTCACTCAATGTTACTGGTGGATGCTGTCACTGAGGCCATTATTGGGACACCCTTTGGCACTCTCTCACTTCACCCATAATTCTATCCAAGGCAATTAGTGCCACAGGAGAAGGACTGCTCTG... | pathogenic | 237,650 |
Regarding the variant found on chromosome 15 at position 84857968 in gene ALPK3 (alpha kinase 3): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiovascular_phenotype'] | ATGCTGTCACTGAGGCCATTATTGGGACACCCTTTGGCACTCTCTCACTTCACCCATAATTCTATCCAAGGCAATTAGTGCCACAGGAGAAGGACTGCTCTGGGAGCCCTGGGGAGAGGACAGTCTCCTTCATATGGTAGGGGTGAGGGGTGGAATAACCCATGAGCAAGGTCTTTCAGGAAAGGCAGGATTTCTTCAGGAAGAGGTGGAAAGGGCCAGAGCTGGGTCTGGGTGCTAGATATTCCCCAGTCCAGATTCTGAGATCAGAGATTAGGGTGAGTGGGCATGGATGGGGCTTTGGGCATTTGTCACATGTCTTT... | ATGCTGTCACTGAGGCCATTATTGGGACACCCTTTGGCACTCTCTCACTTCACCCATAATTCTATCCAAGGCAATTAGTGCCACAGGAGAAGGACTGCTCTGGGAGCCCTGGGGAGAGGACAGTCTCCTTCATATGGTAGGGGTGAGGGGTGGAATAACCCATGAGCAAGGTCTTTCAGGAAAGGCAGGATTTCTTCAGGAAGAGGTGGAAAGGGCCAGAGCTGGGTCTGGGTGCTAGATATTCCCCAGTCCAGATTCTGAGATCAGAGATTAGGGTGAGTGGGCATGGATGGGGCTTTGGGCATTTGTCACATGTCTTT... | pathogenic | 237,658 |
Considering the variant on chromosome 15, location 84858269, involving gene ALPK3 (alpha kinase 3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiovascular_phenotype'] | GCATTTGTCACATGTCTTTGCCTCCCAACTTCCAGCAGGCCTGAGAAACCAGGAGGCAAGATTCCCATCAGAGCAGTTGTAGATGAGGTCCGAGGAGACTGGGATGCCAGACTGGAAAGAGATCTGAATGTCCATGTAGTTAAATCCTTGCTTTTGTCCCTCTGTTTTCAGGTCCTGGAATGCCAGACAACCACGGCTCCTACCATGTCGGCCAGCAGCAGCTCTGATGTAGCCTCCATTGGGGTTAGCACTTCCGGAAGTCAAGGTATCATTGAACCCATGGATATGGAAACCCAGGAGGATGGGAGAACATCTGCTAA... | GCATTTGTCACATGTCTTTGCCTCCCAACTTCCAGCAGGCCTGAGAAACCAGGAGGCAAGATTCCCATCAGAGCAGTTGTAGATGAGGTCCGAGGAGACTGGGATGCCAGACTGGAAAGAGATCTGAATGTCCATGTAGTTAAATCCTTGCTTTTGTCCCTCTGTTTTCAGGTCCTGGAATGCCAGACAACCACGGCTCCTACCATGTCGGCCAGCAGCAGCTCTGATGTAGCCTCCATTGGGGTTAGCACTTCCGGAAGTCAAGGTATCATTGAACCCATGGATATGGAAACCCAGGAGGATGGGAGAACATCTGCTAA... | pathogenic | 237,668 |
Variant at chromosome 15, position 84858312, gene ALPK3 (alpha kinase 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiomyopathy,_familial_hypertrophic_27', 'Cardiovascular_phenotype'] | AGAAACCAGGAGGCAAGATTCCCATCAGAGCAGTTGTAGATGAGGTCCGAGGAGACTGGGATGCCAGACTGGAAAGAGATCTGAATGTCCATGTAGTTAAATCCTTGCTTTTGTCCCTCTGTTTTCAGGTCCTGGAATGCCAGACAACCACGGCTCCTACCATGTCGGCCAGCAGCAGCTCTGATGTAGCCTCCATTGGGGTTAGCACTTCCGGAAGTCAAGGTATCATTGAACCCATGGATATGGAAACCCAGGAGGATGGGAGAACATCTGCTAACCAGAGAACTGGAAGCAAGAAGAATGTGCAGGCAGATGGGAAG... | AGAAACCAGGAGGCAAGATTCCCATCAGAGCAGTTGTAGATGAGGTCCGAGGAGACTGGGATGCCAGACTGGAAAGAGATCTGAATGTCCATGTAGTTAAATCCTTGCTTTTGTCCCTCTGTTTTCAGGTCCTGGAATGCCAGACAACCACGGCTCCTACCATGTCGGCCAGCAGCAGCTCTGATGTAGCCTCCATTGGGGTTAGCACTTCCGGAAGTCAAGGTATCATTGAACCCATGGATATGGAAACCCAGGAGGATGGGAGAACATCTGCTAACCAGAGAACTGGAAGCAAGAAGAATGTGCAGGCAGATGGGAAG... | pathogenic | 237,671 |
Clinical significance of chromosome 15, position 84858460, gene ALPK3 (alpha kinase 3): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiomyopathy,_familial_hypertrophic_27', 'Hypertrophic_cardiomyopathy'] | CACGGCTCCTACCATGTCGGCCAGCAGCAGCTCTGATGTAGCCTCCATTGGGGTTAGCACTTCCGGAAGTCAAGGTATCATTGAACCCATGGATATGGAAACCCAGGAGGATGGGAGAACATCTGCTAACCAGAGAACTGGAAGCAAGAAGAATGTGCAGGCAGATGGGAAGATACAAGTGGATGGAAGGACCAGGGGAGATGGAACACAGACAGCCCAGAGGACACGTGCAGATAGGAAGACGCAGGTGGATGCTGGGACACAAGAAAGCAAGAGGCCACAGTCAGACAGGAGTGCACAGAAGGGCATGATGACACAGG... | CACGGCTCCTACCATGTCGGCCAGCAGCAGCTCTGATGTAGCCTCCATTGGGGTTAGCACTTCCGGAAGTCAAGGTATCATTGAACCCATGGATATGGAAACCCAGGAGGATGGGAGAACATCTGCTAACCAGAGAACTGGAAGCAAGAAGAATGTGCAGGCAGATGGGAAGATACAAGTGGATGGAAGGACCAGGGGAGATGGAACACAGACAGCCCAGAGGACACGTGCAGATAGGAAGACGCAGGTGGATGCTGGGACACAAGAAAGCAAGAGGCCACAGTCAGACAGGAGTGCACAGAAGGGCATGATGACACAGG... | pathogenic | 237,684 |
Considering the variant on chromosome 15, location 84862655, involving gene ALPK3 (alpha kinase 3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiovascular_phenotype', 'Neurodevelopmental_disorder'] | AGGCTAAGGCTTGGGACTGTGAAGGCAGCCAGTGATAAAAAGATGTTTGGAGCTGTATTTGCTAACAAATGCATTAATTCCTTCATTCTCTCACTCTTTCAATCACTCATTCATCCAACTAGTGACTTTGTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCCAGTACCTGGGATTACAGGCATGCACCACCATGCCCAGCTCGTTTTTGTATTTTTAGTAGAGATGGGTTTCACTATGTT... | AGGCTAAGGCTTGGGACTGTGAAGGCAGCCAGTGATAAAAAGATGTTTGGAGCTGTATTTGCTAACAAATGCATTAATTCCTTCATTCTCTCACTCTTTCAATCACTCATTCATCCAACTAGTGACTTTGTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCCAGTACCTGGGATTACAGGCATGCACCACCATGCCCAGCTCGTTTTTGTATTTTTAGTAGAGATGGGTTTCACTATGTT... | pathogenic | 237,729 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 15, position 84862893, gene ALPK3 (alpha kinase 3). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiomyopathy', 'Cardiomyopathy,_familial_hypertrophic_27', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy'] | CCCCAGTACCTGGGATTACAGGCATGCACCACCATGCCCAGCTCGTTTTTGTATTTTTAGTAGAGATGGGTTTCACTATGTTGGCAGGTCTGGTCTCGACCTCCTGACCTCAAGGGATCCACCTGCCTTGGCCTCCCAAAGTGCCAATTAGTGACTTTTGTTTAGTAATCAAATAAAATTTAATCAATATCAAATAAAACCTCAACCTCAAAACTAAGTAATAATTATTTAATATCATCAAACATCCAGTCAGATTTCCCCAACTGTCTCATATGCGTTGGTTTATTTGAATCAGGAACCACTCATTGCTTTTGGCTGAT... | CCCCAGTACCTGGGATTACAGGCATGCACCACCATGCCCAGCTCGTTTTTGTATTTTTAGTAGAGATGGGTTTCACTATGTTGGCAGGTCTGGTCTCGACCTCCTGACCTCAAGGGATCCACCTGCCTTGGCCTCCCAAAGTGCCAATTAGTGACTTTTGTTTAGTAATCAAATAAAATTTAATCAATATCAAATAAAACCTCAACCTCAAAACTAAGTAATAATTATTTAATATCATCAAACATCCAGTCAGATTTCCCCAACTGTCTCATATGCGTTGGTTTATTTGAATCAGGAACCACTCATTGCTTTTGGCTGAT... | pathogenic | 237,749 |
Variant at chromosome 15, position 84864506, gene ALPK3 (alpha kinase 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype'] | CCCAAGGAGCTCATAGTCTGGTGGGGACTTAATGTGCCCAAAGAGCAGGCGTGGACGGAAAGTGAGCCCAGCAGGTTGGCAGGGTGGGAGGCTCTTCTGGCCTTTTCCTTCCCTGTGAGCCCCACATTGGTGAGACAGGAGCTCCTGGTCTCCCACATTTCTCCTGTTCCCCTTCAGTTGGAGAAGAGATTGAGATGACCCCTATGGTGTTTGCTAAGGGTCTGGCTGACTCTGGCTGCTGGGGGGACAAGCTCTTTGGGCGACTGGTAAGCGAGGAGCTCCGAGGGGGTGGATATGGGTGTGGCCTTCGGAAGGCCTCC... | CCCAAGGAGCTCATAGTCTGGTGGGGACTTAATGTGCCCAAAGAGCAGGCGTGGACGGAAAGTGAGCCCAGCAGGTTGGCAGGGTGGGAGGCTCTTCTGGCCTTTTCCTTCCCTGTGAGCCCCACATTGGTGAGACAGGAGCTCCTGGTCTCCCACATTTCTCCTGTTCCCCTTCAGTTGGAGAAGAGATTGAGATGACCCCTATGGTGTTTGCTAAGGGTCTGGCTGACTCTGGCTGCTGGGGGGACAAGCTCTTTGGGCGACTGGTAAGCGAGGAGCTCCGAGGGGGTGGATATGGGTGTGGCCTTCGGAAGGCCTCC... | pathogenic | 237,765 |
Gene mutation in ACAN (aggrecan) at chromosome 15, position 88845622—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic | GGACCGTCTACGTGCATGCCAACCAGACGGGCTACCCCGACCCCTCATCCCGCTACGACGCCATCTGCTACACAGGTGGGGCACGGCTGGTGGTGGGAAGGGAGTTCATGCCACTAAAATGGGGTCCTAGAGGGAAGAGGGGATCTTGGAAAGGGAGGGTTGGTTTTTGCCCTTGAAGGGGCCACGGGGTACCTGAACCCCATGTTTTTAGGACACCCCTCCATTTTCACTGGTTCCTAGGAAGCCCTAAGGTAGAGACTCTTGAGACTGCAGCGTATCTAGCTCTGTCTCATCGGATCAGCACAGACGAGGCTTAAAAA... | GGACCGTCTACGTGCATGCCAACCAGACGGGCTACCCCGACCCCTCATCCCGCTACGACGCCATCTGCTACACAGGTGGGGCACGGCTGGTGGTGGGAAGGGAGTTCATGCCACTAAAATGGGGTCCTAGAGGGAAGAGGGGATCTTGGAAAGGGAGGGTTGGTTTTTGCCCTTGAAGGGGCCACGGGGTACCTGAACCCCATGTTTTTAGGACACCCCTCCATTTTCACTGGTTCCTAGGAAGCCCTAAGGTAGAGACTCTTGAGACTGCAGCGTATCTAGCTCTGTCTCATCGGATCAGCACAGACGAGGCTTAAAAA... | pathogenic | 237,858 |
The mutation in gene ACAN (aggrecan) at chromosome 15, position 88845675—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Inborn_genetic_diseases'] | TACGACGCCATCTGCTACACAGGTGGGGCACGGCTGGTGGTGGGAAGGGAGTTCATGCCACTAAAATGGGGTCCTAGAGGGAAGAGGGGATCTTGGAAAGGGAGGGTTGGTTTTTGCCCTTGAAGGGGCCACGGGGTACCTGAACCCCATGTTTTTAGGACACCCCTCCATTTTCACTGGTTCCTAGGAAGCCCTAAGGTAGAGACTCTTGAGACTGCAGCGTATCTAGCTCTGTCTCATCGGATCAGCACAGACGAGGCTTAAAAACCTCCAAACTGTTTTCTCCAGTTTGAATCAAAGCTCTGTCACCTACTACTGTG... | TACGACGCCATCTGCTACACAGGTGGGGCACGGCTGGTGGTGGGAAGGGAGTTCATGCCACTAAAATGGGGTCCTAGAGGGAAGAGGGGATCTTGGAAAGGGAGGGTTGGTTTTTGCCCTTGAAGGGGCCACGGGGTACCTGAACCCCATGTTTTTAGGACACCCCTCCATTTTCACTGGTTCCTAGGAAGCCCTAAGGTAGAGACTCTTGAGACTGCAGCGTATCTAGCTCTGTCTCATCGGATCAGCACAGACGAGGCTTAAAAACCTCCAAACTGTTTTCTCCAGTTTGAATCAAAGCTCTGTCACCTACTACTGTG... | pathogenic | 237,862 |
Is the genetic change at chromosome 15, position 89210406, within gene RLBP1 (retinaldehyde binding protein 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bothnia_retinal_dystrophy', 'Newfoundland_cone-rod_dystrophy', 'Pigmentary_retinal_dystrophy'] | GTTGATCTCCTACCCTTCTGCCCATAATAATTTGCTGTGATTCCTCCTCCAGCCTAGGAGTCCTATGTAAATACCATTTTTGTTTTCATGGATTTTATGACCATGGCTTGTTGACTGTGAATGTTATAAAGAAGGAAGTTTCTTGGGTAATGAGCATACACTACAAACCCTAGGAGTGAGAGAAGAAAGTATGTAAGAAATAAGTGCATATATATATCTATTTATAAATATATATATATATACACCCACACACACACATATGTATACATTGACATATACATGAACATGTACACAGCCTCACTGAAAAGCAAGAAAGAGAA... | GTTGATCTCCTACCCTTCTGCCCATAATAATTTGCTGTGATTCCTCCTCCAGCCTAGGAGTCCTATGTAAATACCATTTTTGTTTTCATGGATTTTATGACCATGGCTTGTTGACTGTGAATGTTATAAAGAAGGAAGTTTCTTGGGTAATGAGCATACACTACAAACCCTAGGAGTGAGAGAAGAAAGTATGTAAGAAATAAGTGCATATATATATCTATTTATAAATATATATATATATACACCCACACACACACATATGTATACATTGACATATACATGAACATGTACACAGCCTCACTGAAAAGCAAGAAAGAGAA... | pathogenic | 237,976 |
Determine if the mutation at chromosome 15, position 89215076 in gene POLG is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Progressive_sclerosing_poliodystrophy'] | CAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAG... | CAGCCAATTTTTTGTATTTTCTAAAATGAGTAGATATCACTTACGTAATAAGAAAAAACATATATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAG... | pathogenic | 237,984 |
Is the variant located on chromosome 15 at position 89217111, gene RLBP1 (retinaldehyde binding protein 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | ATCAAAGGTGATTTCTTGACTTTGCCAGTTCTCAATGTTGAAGAGCATGACCACTCGGCCATACTTGTCCCGACTAGAGAGGACACCAGGGTAGCCAGCTTCAATGGTGCAGCGGACAGCCTCTGGGGACAGGCTGTCAAAGAGCTCAGGGTACTGCAGCCGGAAATTCACATAGCCTGGAGGAAGGAGAGCAGAGGAACCCCCTCAGGGAGCCATCCCATCCCTACCCCATCCCTCCTAGTGGGACTCAGAGACCTGACCTCCTGCCAGGTCCTATGTGTGACCGAGCTGGCTACTCAACCTATCCGAGCCCCATGTTT... | ATCAAAGGTGATTTCTTGACTTTGCCAGTTCTCAATGTTGAAGAGCATGACCACTCGGCCATACTTGTCCCGACTAGAGAGGACACCAGGGTAGCCAGCTTCAATGGTGCAGCGGACAGCCTCTGGGGACAGGCTGTCAAAGAGCTCAGGGTACTGCAGCCGGAAATTCACATAGCCTGGAGGAAGGAGAGCAGAGGAACCCCCTCAGGGAGCCATCCCATCCCTACCCCATCCCTCCTAGTGGGACTCAGAGACCTGACCTCCTGCCAGGTCCTATGTGTGACCGAGCTGGCTACTCAACCTATCCGAGCCCCATGTTT... | benign | 237,989 |
Evaluate if the mutation on chromosome 15 at position 89217168 in RLBP1 (retinaldehyde binding protein 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Abnormality_of_the_eye', 'Autosomal_recessive_retinitis_pigmentosa', 'Bothnia_retinal_dystrophy', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_punctata_albescens'] | GCCATACTTGTCCCGACTAGAGAGGACACCAGGGTAGCCAGCTTCAATGGTGCAGCGGACAGCCTCTGGGGACAGGCTGTCAAAGAGCTCAGGGTACTGCAGCCGGAAATTCACATAGCCTGGAGGAAGGAGAGCAGAGGAACCCCCTCAGGGAGCCATCCCATCCCTACCCCATCCCTCCTAGTGGGACTCAGAGACCTGACCTCCTGCCAGGTCCTATGTGTGACCGAGCTGGCTACTCAACCTATCCGAGCCCCATGTTTCCTCTCCAAAAAATGGGATCTCGATATTGACCTATCTATTCTAGATAGTCTAGATAG... | GCCATACTTGTCCCGACTAGAGAGGACACCAGGGTAGCCAGCTTCAATGGTGCAGCGGACAGCCTCTGGGGACAGGCTGTCAAAGAGCTCAGGGTACTGCAGCCGGAAATTCACATAGCCTGGAGGAAGGAGAGCAGAGGAACCCCCTCAGGGAGCCATCCCATCCCTACCCCATCCCTCCTAGTGGGACTCAGAGACCTGACCTCCTGCCAGGTCCTATGTGTGACCGAGCTGGCTACTCAACCTATCCGAGCCCCATGTTTCCTCTCCAAAAAATGGGATCTCGATATTGACCTATCTATTCTAGATAGTCTAGATAG... | pathogenic | 237,991 |
A mutation at chromosome position 89217183 on chromosome 15 in gene RLBP1 (retinaldehyde binding protein 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Bothnia_retinal_dystrophy', 'Newfoundland_cone-rod_dystrophy', 'Pigmentary_retinal_dystrophy', 'Retinitis_pigmentosa'] | ACTAGAGAGGACACCAGGGTAGCCAGCTTCAATGGTGCAGCGGACAGCCTCTGGGGACAGGCTGTCAAAGAGCTCAGGGTACTGCAGCCGGAAATTCACATAGCCTGGAGGAAGGAGAGCAGAGGAACCCCCTCAGGGAGCCATCCCATCCCTACCCCATCCCTCCTAGTGGGACTCAGAGACCTGACCTCCTGCCAGGTCCTATGTGTGACCGAGCTGGCTACTCAACCTATCCGAGCCCCATGTTTCCTCTCCAAAAAATGGGATCTCGATATTGACCTATCTATTCTAGATAGTCTAGATAGTGGCCTATCTCACCA... | ACTAGAGAGGACACCAGGGTAGCCAGCTTCAATGGTGCAGCGGACAGCCTCTGGGGACAGGCTGTCAAAGAGCTCAGGGTACTGCAGCCGGAAATTCACATAGCCTGGAGGAAGGAGAGCAGAGGAACCCCCTCAGGGAGCCATCCCATCCCTACCCCATCCCTCCTAGTGGGACTCAGAGACCTGACCTCCTGCCAGGTCCTATGTGTGACCGAGCTGGCTACTCAACCTATCCGAGCCCCATGTTTCCTCTCCAAAAAATGGGATCTCGATATTGACCTATCTATTCTAGATAGTCTAGATAGTGGCCTATCTCACCA... | pathogenic | 237,992 |
Is chromosome 15, position 89217207, gene RLBP1 (retinaldehyde binding protein 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Retinitis_pigmentosa'] | AGCTTCAATGGTGCAGCGGACAGCCTCTGGGGACAGGCTGTCAAAGAGCTCAGGGTACTGCAGCCGGAAATTCACATAGCCTGGAGGAAGGAGAGCAGAGGAACCCCCTCAGGGAGCCATCCCATCCCTACCCCATCCCTCCTAGTGGGACTCAGAGACCTGACCTCCTGCCAGGTCCTATGTGTGACCGAGCTGGCTACTCAACCTATCCGAGCCCCATGTTTCCTCTCCAAAAAATGGGATCTCGATATTGACCTATCTATTCTAGATAGTCTAGATAGTGGCCTATCTCACCAAATTGTTGTGGCAATCAAATGAGA... | AGCTTCAATGGTGCAGCGGACAGCCTCTGGGGACAGGCTGTCAAAGAGCTCAGGGTACTGCAGCCGGAAATTCACATAGCCTGGAGGAAGGAGAGCAGAGGAACCCCCTCAGGGAGCCATCCCATCCCTACCCCATCCCTCCTAGTGGGACTCAGAGACCTGACCTCCTGCCAGGTCCTATGTGTGACCGAGCTGGCTACTCAACCTATCCGAGCCCCATGTTTCCTCTCCAAAAAATGGGATCTCGATATTGACCTATCTATTCTAGATAGTCTAGATAGTGGCCTATCTCACCAAATTGTTGTGGCAATCAAATGAGA... | pathogenic | 237,993 |
Does the variant on chromosome 15 at location 89218961 affecting gene RLBP1 (retinaldehyde binding protein 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Bothnia_retinal_dystrophy', 'Newfoundland_cone-rod_dystrophy', 'Pigmentary_retinal_dystrophy'] | CAGAAATCTGCTCCTGACACACTTCATTCATTCATTCGTTCGCTCATTATCAGAGCTGACCCATTTTACAGGTAAGGATGTGGAGGCTCAGAGAAACTGACTTGCCCACAGTATGGAAGCAGGCCTGTTCAGTGCCAGGATGAGAGCGGATAGCATCCTCATGGCCTCCCGTCTTCCCAGGGCCGTCCCTCCAAGCACTGGCCTCACCTCTGAGCAGCTCATAGGCACGGCCCACGTTGAACTTCCGTGCGCGGATGAAGCGCAGGAAGAAGCCGCTGTCCTTCTCTTGCACCCTCTCCGCCACGGCCACCGCCAGCTCC... | CAGAAATCTGCTCCTGACACACTTCATTCATTCATTCGTTCGCTCATTATCAGAGCTGACCCATTTTACAGGTAAGGATGTGGAGGCTCAGAGAAACTGACTTGCCCACAGTATGGAAGCAGGCCTGTTCAGTGCCAGGATGAGAGCGGATAGCATCCTCATGGCCTCCCGTCTTCCCAGGGCCGTCCCTCCAAGCACTGGCCTCACCTCTGAGCAGCTCATAGGCACGGCCCACGTTGAACTTCCGTGCGCGGATGAAGCGCAGGAAGAAGCCGCTGTCCTTCTCTTGCACCCTCTCCGCCACGGCCACCGCCAGCTCC... | pathogenic | 237,999 |
Clinical significance of chromosome 15, position 89260788, gene FANCI (FA complementation group I): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | AAAGTTGCTGGAGCACTCCTGAGAGCCATCTTCAAAGGTAATAATAATTAATGTCACTTCTGTCTGTCTCCTGCATTCATTGGTAGATTTGTTTAGTTTTCGTACTTTTCTTACGGTTTGAAGCCCCACTGGAACATTTTCCATGTTTTGAGGATTCTACAGAATCAACTACAGCAGCAGTTTCCTGTCTAGTGGACTTAAGTAATTTTACTGAAGGGAGTTTGAAGTGGCTACCTGAGATTGCGTTGCTGATTTGGGGGCCTATAATTACAGAATGTGCTTTTCGTAAAATCTGCTTTGGTTTACTTGTGCTTTTAAGA... | AAAGTTGCTGGAGCACTCCTGAGAGCCATCTTCAAAGGTAATAATAATTAATGTCACTTCTGTCTGTCTCCTGCATTCATTGGTAGATTTGTTTAGTTTTCGTACTTTTCTTACGGTTTGAAGCCCCACTGGAACATTTTCCATGTTTTGAGGATTCTACAGAATCAACTACAGCAGCAGTTTCCTGTCTAGTGGACTTAAGTAATTTTACTGAAGGGAGTTTGAAGTGGCTACCTGAGATTGCGTTGCTGATTTGGGGGCCTATAATTACAGAATGTGCTTTTCGTAAAATCTGCTTTGGTTTACTTGTGCTTTTAAGA... | pathogenic | 238,011 |
Chromosome 15, position 89261589, gene FANCI (FA complementation group I): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Fanconi_anemia'] | TCTATGGCTTTTAGTATATTCAGAGTTGTGTATCCATTACCACAATTGATTTTAAAACAATTTCCTTACCCCTGAAAGAAGGTTTGCATCTCTTAGATGTCACCTCTCCAAACCCCTAGTCCATTCCAGTCCTAAGAAACCACGAATCTACTTTTTGTCTCTACAGATTTGTCTATTCTGGACATTTCATTTAGTGGAATCATTCTATATATGGTCCTTTGTGACTGACTTCTTTCGTTTATAATGTTACAAAGGTTCCTCTATGTTGTAATATGTATCAGTACTTTATTTTTACTGCTGAATAATATTCCATTATGTGG... | TCTATGGCTTTTAGTATATTCAGAGTTGTGTATCCATTACCACAATTGATTTTAAAACAATTTCCTTACCCCTGAAAGAAGGTTTGCATCTCTTAGATGTCACCTCTCCAAACCCCTAGTCCATTCCAGTCCTAAGAAACCACGAATCTACTTTTTGTCTCTACAGATTTGTCTATTCTGGACATTTCATTTAGTGGAATCATTCTATATATGGTCCTTTGTGACTGACTTCTTTCGTTTATAATGTTACAAAGGTTCCTCTATGTTGTAATATGTATCAGTACTTTATTTTTACTGCTGAATAATATTCCATTATGTGG... | pathogenic | 238,015 |
Does the variant on chromosome 15 at location 89261862 affecting gene FANCI (FA complementation group I) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | TGTATCAGTACTTTATTTTTACTGCTGAATAATATTCCATTATGTGGATATACAACATTTTTCCATTCATGAGTTGATGAAGACTTAAGTTGTATCTATTTTCTGGCCATTATAATACTACTATGAACATTTGTGTATAAATTTTTGTGCGGACATGTTTTCCTTTCTCTTGGATATATATCTAGGAGTGGAATTGCCGGATCATGTGGAAACTCTTATGTTTAACTGAGAAACCGCCAAACTGTTTTCCAATGTGGCTGGATTAGGATGCCAATTTTTTCACATCCTCATCAACACTTGTTATTATCTTTTTTTTTCAG... | TGTATCAGTACTTTATTTTTACTGCTGAATAATATTCCATTATGTGGATATACAACATTTTTCCATTCATGAGTTGATGAAGACTTAAGTTGTATCTATTTTCTGGCCATTATAATACTACTATGAACATTTGTGTATAAATTTTTGTGCGGACATGTTTTCCTTTCTCTTGGATATATATCTAGGAGTGGAATTGCCGGATCATGTGGAAACTCTTATGTTTAACTGAGAAACCGCCAAACTGTTTTCCAATGTGGCTGGATTAGGATGCCAATTTTTTCACATCCTCATCAACACTTGTTATTATCTTTTTTTTTCAG... | pathogenic | 238,018 |
Clinical classification of chromosome 15, position 89264589, gene FANCI (FA complementation group I): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | ATATAATACTGTGATTGCGTGTAGGTTTGTTAAAAAGAACAAGAAGGGAATACCCAAGATTATCTAAACCAGAGATAATTGCTTTTATGGTTCCTTACATAAGATCCCTTACATAAATCATTTTAAGCATGTATTTGTCAATTAATTTGTTTTTAATTACACAAGAGTTTATTCAATACATACTGTAATATACCTTGCATTTTTTATTTAATACAACTGTCCATGTCAGCATATACAACTCTACATCATTCTTTTTAATGGTTTGCAGTAATCTATTATTTGGCTAATCTACAATTGTCAGATTATTTGGTTATTTCCAG... | ATATAATACTGTGATTGCGTGTAGGTTTGTTAAAAAGAACAAGAAGGGAATACCCAAGATTATCTAAACCAGAGATAATTGCTTTTATGGTTCCTTACATAAGATCCCTTACATAAATCATTTTAAGCATGTATTTGTCAATTAATTTGTTTTTAATTACACAAGAGTTTATTCAATACATACTGTAATATACCTTGCATTTTTTATTTAATACAACTGTCCATGTCAGCATATACAACTCTACATCATTCTTTTTAATGGTTTGCAGTAATCTATTATTTGGCTAATCTACAATTGTCAGATTATTTGGTTATTTCCAG... | pathogenic | 238,026 |
Does the variant on chromosome 15 at location 89268475 affecting gene FANCI (FA complementation group I) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | CAAGCGATCCTCCTGCCTCAGCCTCCCTAGTAGCTGGGGTTACAGGTGCGTGCCACCACGCCCGGCTACTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCCAAGCCTGGCTAATTTTAAAAATTTTTTCTAGAGATGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTAGCTTCAGGCGATCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATT... | CAAGCGATCCTCCTGCCTCAGCCTCCCTAGTAGCTGGGGTTACAGGTGCGTGCCACCACGCCCGGCTACTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCCAAGCCTGGCTAATTTTAAAAATTTTTTCTAGAGATGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTAGCTTCAGGCGATCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATT... | pathogenic | 238,030 |
A genetic variant at chromosome 15, position 89268517, affecting gene FANCI (FA complementation group I)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | CAGGTGCGTGCCACCACGCCCGGCTACTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCCAAGCCTGGCTAATTTTAAAAATTTTTTCTAGAGATGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTAGCTTCAGGCGATCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGAGCAAGCTGCCACACCCAGCAGAGAAGGTGGTCTTAG... | CAGGTGCGTGCCACCACGCCCGGCTACTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCCAAGCCTGGCTAATTTTAAAAATTTTTTCTAGAGATGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTAGCTTCAGGCGATCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGAGCAAGCTGCCACACCCAGCAGAGAAGGTGGTCTTAG... | pathogenic | 238,033 |
Is the variant located on chromosome 15 at position 89273402, gene FANCI (FA complementation group I), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | TCTCTATAGATTTACCTTTCCTAGATATTTTGTATAAATGGAATTATATGATATGTGGTCTTTTGTGTATGTCTTCTTTCATTAAGTGTAATGTTTTCAGGATTCACCTGTGTTGTAGCGTATGTCAGTATTTCATTTCTTTTTATTGTTTTGTTTGTTTTAGGAGACATGGTCTCACTCTGTCACCTAGGGTGGAGTGCAATATCATGATCATGGCTCACTGCACCCTCAAACTCCTGGCCTCAAGTGATCCTCCCACTGTAGAGTTCTGACTAGCTAGGACCGCAGGCGCACACCACCATGCCTGGCTAATTTGTAAA... | TCTCTATAGATTTACCTTTCCTAGATATTTTGTATAAATGGAATTATATGATATGTGGTCTTTTGTGTATGTCTTCTTTCATTAAGTGTAATGTTTTCAGGATTCACCTGTGTTGTAGCGTATGTCAGTATTTCATTTCTTTTTATTGTTTTGTTTGTTTTAGGAGACATGGTCTCACTCTGTCACCTAGGGTGGAGTGCAATATCATGATCATGGCTCACTGCACCCTCAAACTCCTGGCCTCAAGTGATCCTCCCACTGTAGAGTTCTGACTAGCTAGGACCGCAGGCGCACACCACCATGCCTGGCTAATTTGTAAA... | pathogenic | 238,038 |
Gene FANCI (FA complementation group I) variant at chromosome position 89278703 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | AGGTAAGAATATCTCACTAAGTTTTTCTTTTTTAACTAAGCTTTGTGTTCTTGTAGCGTTCATAGCTGGGACCATGTTACTCAGGGCCTCGTAGAACTTGGTTTCATTTTGATGGATTCATATGGGCCAAAGAAGGTTCTTGATGGAAAAACTATTGAAACCAGCCCAAGTCTTTCTAGAATGCCAAACCAGCATGCATGTAAGCTCGGAGCTAATATCCTGTTGGAAACTTTTAAGGTGAGACACTATTTTGGCAACCACTCCCTAATTTTGTTTAAATAATCCAAGTAGGGCTTGGCATTTGCCTGGGAGTTTGGTGG... | AGGTAAGAATATCTCACTAAGTTTTTCTTTTTTAACTAAGCTTTGTGTTCTTGTAGCGTTCATAGCTGGGACCATGTTACTCAGGGCCTCGTAGAACTTGGTTTCATTTTGATGGATTCATATGGGCCAAAGAAGGTTCTTGATGGAAAAACTATTGAAACCAGCCCAAGTCTTTCTAGAATGCCAAACCAGCATGCATGTAAGCTCGGAGCTAATATCCTGTTGGAAACTTTTAAGGTGAGACACTATTTTGGCAACCACTCCCTAATTTTGTTTAAATAATCCAAGTAGGGCTTGGCATTTGCCTGGGAGTTTGGTGG... | pathogenic | 238,059 |
Mutation found at chromosome 15 position 89283192, gene FANCI (FA complementation group I): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | AACTGATTATAGATTCTGTTTTTCAGACCTGCTTTCAAATATCGTCATGTATGCACCCTTAGTTCTTCAAAGTTGTTCTTCTAAAGTCACAGAAGCTTTTGACTATTTGTCCTTTCTGCCCCTTCAGACTGTACAAAGGCTGCTTAAGGCAGTGCAGGTAAGTCTTCAGATTCCCAAGTAACTTGCCAAAACTGAGGTTTAACTGTCTAGTGGAAGTCTGATGCATTTTTGTATAAATATATATGTCTAAGAAATTCTATTCCACTTTAGTCTGAAACATAAAATTTGCATTAAAAGGGCAAGAGCATTGAGCAAGACTG... | AACTGATTATAGATTCTGTTTTTCAGACCTGCTTTCAAATATCGTCATGTATGCACCCTTAGTTCTTCAAAGTTGTTCTTCTAAAGTCACAGAAGCTTTTGACTATTTGTCCTTTCTGCCCCTTCAGACTGTACAAAGGCTGCTTAAGGCAGTGCAGGTAAGTCTTCAGATTCCCAAGTAACTTGCCAAAACTGAGGTTTAACTGTCTAGTGGAAGTCTGATGCATTTTTGTATAAATATATATGTCTAAGAAATTCTATTCCACTTTAGTCTGAAACATAAAATTTGCATTAAAAGGGCAAGAGCATTGAGCAAGACTG... | pathogenic | 238,068 |
Variant chromosome 15, position 89285077, gene FANCI (FA complementation group I): benign or pathogenic? Disease(s)? | benign | TGTTTATACATATGCCTTCTCTGTATGCAACTAGCTGGATTTTTCTGACCCAGAAGCATATTCCTGTGAAATAGTACTGTTTGTTAACTTCTCTATTTCTGAGCTAGCCAGCTTGATGCCCGAAAATCTGCAGTTGCTGGGTTTTTGCTGCTCCTGAAGAACTTTAAAGTTTTAGGCAGCCTGTCATCCTCTCAGTGCAGTCAGTCTCTCAGTGTCAGTCAGGTAAGGATTATTTACGTTAACTTGCAGTGTGTGCGTATCATTCATGTGCATCGATGAAATGCACGCTGTTTTCTTTTATTCCTGTTATGGTTGTAAGA... | TGTTTATACATATGCCTTCTCTGTATGCAACTAGCTGGATTTTTCTGACCCAGAAGCATATTCCTGTGAAATAGTACTGTTTGTTAACTTCTCTATTTCTGAGCTAGCCAGCTTGATGCCCGAAAATCTGCAGTTGCTGGGTTTTTGCTGCTCCTGAAGAACTTTAAAGTTTTAGGCAGCCTGTCATCCTCTCAGTGCAGTCAGTCTCTCAGTGTCAGTCAGGTAAGGATTATTTACGTTAACTTGCAGTGTGTGCGTATCATTCATGTGCATCGATGAAATGCACGCTGTTTTCTTTTATTCCTGTTATGGTTGTAAGA... | benign | 238,071 |
Clinical impact (benign or pathogenic) of the variant at chromosome 15, location 89290267, gene FANCI (FA complementation group I): what disease(s) if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | AAGTAACTGTTTACCAGCTAAATTCTCAGCCACCAGCTGGCAAAGGTGCACTAAGGATAGGCAGTCTTAGACTTCATGTGTTAACTCTTGTGCAGTCCTTGATATGCCCCTTCCCCCCCAAAAAAAATCTTCACCCTTATTTAGCTCTAAAGTAAAAAAAATTAACATGAAGTGGATCATAGACTTAAACCTATTAGAATATTGCTGTTCATTTATTCATCAGTCTTAGTATATCATTGGTATATAAAAATACCTTATGTAGTGATAAAACTTGTCATATTTGTTGCAAGTGTATGCCAGATTGCCATTTGCTTTTTTTT... | AAGTAACTGTTTACCAGCTAAATTCTCAGCCACCAGCTGGCAAAGGTGCACTAAGGATAGGCAGTCTTAGACTTCATGTGTTAACTCTTGTGCAGTCCTTGATATGCCCCTTCCCCCCCAAAAAAAATCTTCACCCTTATTTAGCTCTAAAGTAAAAAAAATTAACATGAAGTGGATCATAGACTTAAACCTATTAGAATATTGCTGTTCATTTATTCATCAGTCTTAGTATATCATTGGTATATAAAAATACCTTATGTAGTGATAAAACTTGTCATATTTGTTGCAAGTGTATGCCAGATTGCCATTTGCTTTTTTTT... | pathogenic | 238,078 |
Classify the chromosome 15 variant at position 89293871 affecting gene FANCI (FA complementation group I) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | GAATGTTTACTTTTAAGTCTTCCCTGCTTATCATTTCTGAACCATTATCATTTTGGATCTATTGGTAAGTTATCTCCATGTTAGCCCTTTACTAAATCAAGGCTTCCATCACTTCCCCCAGAGAATATTTTATCTCATTTATGAATCTTTGATTACATTCACTAAATAAATGTACTTTAGAATGGGGAGAGGGATGATGTCACCTACGAACAGATGAACCTAGGGGACCTGCTTCATTAGTCTAGAGGAAGTATATGATTTAGGCTGAACTAGGATTGGCACTGTTGAACCTTCAGAGGAGCTAGGCCTGGTTGACTTTC... | GAATGTTTACTTTTAAGTCTTCCCTGCTTATCATTTCTGAACCATTATCATTTTGGATCTATTGGTAAGTTATCTCCATGTTAGCCCTTTACTAAATCAAGGCTTCCATCACTTCCCCCAGAGAATATTTTATCTCATTTATGAATCTTTGATTACATTCACTAAATAAATGTACTTTAGAATGGGGAGAGGGATGATGTCACCTACGAACAGATGAACCTAGGGGACCTGCTTCATTAGTCTAGAGGAAGTATATGATTTAGGCTGAACTAGGATTGGCACTGTTGAACCTTCAGAGGAGCTAGGCCTGGTTGACTTTC... | pathogenic | 238,096 |
Is the chromosome 15, position 89293875 variant in FANCI (FA complementation group I) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | GTTTACTTTTAAGTCTTCCCTGCTTATCATTTCTGAACCATTATCATTTTGGATCTATTGGTAAGTTATCTCCATGTTAGCCCTTTACTAAATCAAGGCTTCCATCACTTCCCCCAGAGAATATTTTATCTCATTTATGAATCTTTGATTACATTCACTAAATAAATGTACTTTAGAATGGGGAGAGGGATGATGTCACCTACGAACAGATGAACCTAGGGGACCTGCTTCATTAGTCTAGAGGAAGTATATGATTTAGGCTGAACTAGGATTGGCACTGTTGAACCTTCAGAGGAGCTAGGCCTGGTTGACTTTCTGTT... | GTTTACTTTTAAGTCTTCCCTGCTTATCATTTCTGAACCATTATCATTTTGGATCTATTGGTAAGTTATCTCCATGTTAGCCCTTTACTAAATCAAGGCTTCCATCACTTCCCCCAGAGAATATTTTATCTCATTTATGAATCTTTGATTACATTCACTAAATAAATGTACTTTAGAATGGGGAGAGGGATGATGTCACCTACGAACAGATGAACCTAGGGGACCTGCTTCATTAGTCTAGAGGAAGTATATGATTTAGGCTGAACTAGGATTGGCACTGTTGAACCTTCAGAGGAGCTAGGCCTGGTTGACTTTCTGTT... | pathogenic | 238,099 |
Mutation found at chromosome 15 position 89293881, gene FANCI (FA complementation group I): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | TTTTAAGTCTTCCCTGCTTATCATTTCTGAACCATTATCATTTTGGATCTATTGGTAAGTTATCTCCATGTTAGCCCTTTACTAAATCAAGGCTTCCATCACTTCCCCCAGAGAATATTTTATCTCATTTATGAATCTTTGATTACATTCACTAAATAAATGTACTTTAGAATGGGGAGAGGGATGATGTCACCTACGAACAGATGAACCTAGGGGACCTGCTTCATTAGTCTAGAGGAAGTATATGATTTAGGCTGAACTAGGATTGGCACTGTTGAACCTTCAGAGGAGCTAGGCCTGGTTGACTTTCTGTTCTTATC... | TTTTAAGTCTTCCCTGCTTATCATTTCTGAACCATTATCATTTTGGATCTATTGGTAAGTTATCTCCATGTTAGCCCTTTACTAAATCAAGGCTTCCATCACTTCCCCCAGAGAATATTTTATCTCATTTATGAATCTTTGATTACATTCACTAAATAAATGTACTTTAGAATGGGGAGAGGGATGATGTCACCTACGAACAGATGAACCTAGGGGACCTGCTTCATTAGTCTAGAGGAAGTATATGATTTAGGCTGAACTAGGATTGGCACTGTTGAACCTTCAGAGGAGCTAGGCCTGGTTGACTTTCTGTTCTTATC... | pathogenic | 238,100 |
Does the chromosome 15 mutation at position 89295025 within gene FANCI (FA complementation group I) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | TGGCATAAAAAATAATATCTGTGCTTTTCTTGTGATGGGAGTTTGTGAGGTTTTAATAGAATACAATTTCTCCATAAGTAGTTTCAGGTAAGGTTTTGCTATAACTCCATTTGTAATTTGATGAATTCTCCATTTTATTTACATATTTTTACTGTAGCAGTATTCTAGGCAGTAAACAGACCACAGACGATGACACTGTCTCTTAAATGAGCACCTAGTCTAAGACTAAACTGTGTTCTTTCCACTAGAGAGCGCTGAAGTATATGCTTACCAGGCCTATAAAATGAAAGCCTTCCAGCAGGGTTTCACTTACTCAGAAT... | TGGCATAAAAAATAATATCTGTGCTTTTCTTGTGATGGGAGTTTGTGAGGTTTTAATAGAATACAATTTCTCCATAAGTAGTTTCAGGTAAGGTTTTGCTATAACTCCATTTGTAATTTGATGAATTCTCCATTTTATTTACATATTTTTACTGTAGCAGTATTCTAGGCAGTAAACAGACCACAGACGATGACACTGTCTCTTAAATGAGCACCTAGTCTAAGACTAAACTGTGTTCTTTCCACTAGAGAGCGCTGAAGTATATGCTTACCAGGCCTATAAAATGAAAGCCTTCCAGCAGGGTTTCACTTACTCAGAAT... | pathogenic | 238,110 |
Evaluate this variant at chromosome 15, position 89299816, gene FANCI (FA complementation group I): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Fanconi_anemia_complementation_group_I'] | GAGAGGGAGGGGGAGGGGGAGGGGGCTCGTTTGTTTTTTTGTTTTTGTTTTTTTTTCATTTAAAGAGATGGGGTTTGCAGTGTTGCCCAGGCTGGCCTTGAGCTCTTGGGTTCCCAGGGCTTCTAGTCTTGCTTTGATATGGATTGTTAGTCACATATAAAATGTTATGCTATTATTGGGGAAAAAAAGAGGGATATTACATAATGGTTAAGTGATTCAAAATACTTAAAGCAAAAACTGATGGAACTGAAGGAAAAATAGACAAATCCTTAATTAATGTAATCAGCCCTCTCTCCATAGTCAAAAAACAGAAAACAAAA... | GAGAGGGAGGGGGAGGGGGAGGGGGCTCGTTTGTTTTTTTGTTTTTGTTTTTTTTTCATTTAAAGAGATGGGGTTTGCAGTGTTGCCCAGGCTGGCCTTGAGCTCTTGGGTTCCCAGGGCTTCTAGTCTTGCTTTGATATGGATTGTTAGTCACATATAAAATGTTATGCTATTATTGGGGAAAAAAAGAGGGATATTACATAATGGTTAAGTGATTCAAAATACTTAAAGCAAAAACTGATGGAACTGAAGGAAAAATAGACAAATCCTTAATTAATGTAATCAGCCCTCTCTCCATAGTCAAAAAACAGAAAACAAAA... | pathogenic | 238,115 |
Variant on chromosome 15, at position 89299856, affecting FANCI (FA complementation group I): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | GTTTTTGTTTTTTTTTCATTTAAAGAGATGGGGTTTGCAGTGTTGCCCAGGCTGGCCTTGAGCTCTTGGGTTCCCAGGGCTTCTAGTCTTGCTTTGATATGGATTGTTAGTCACATATAAAATGTTATGCTATTATTGGGGAAAAAAAGAGGGATATTACATAATGGTTAAGTGATTCAAAATACTTAAAGCAAAAACTGATGGAACTGAAGGAAAAATAGACAAATCCTTAATTAATGTAATCAGCCCTCTCTCCATAGTCAAAAAACAGAAAACAAAACAAAAAAAAACCAGTAGATAGAAAATCTACTGAAAGGAGG... | GTTTTTGTTTTTTTTTCATTTAAAGAGATGGGGTTTGCAGTGTTGCCCAGGCTGGCCTTGAGCTCTTGGGTTCCCAGGGCTTCTAGTCTTGCTTTGATATGGATTGTTAGTCACATATAAAATGTTATGCTATTATTGGGGAAAAAAAGAGGGATATTACATAATGGTTAAGTGATTCAAAATACTTAAAGCAAAAACTGATGGAACTGAAGGAAAAATAGACAAATCCTTAATTAATGTAATCAGCCCTCTCTCCATAGTCAAAAAACAGAAAACAAAACAAAAAAAAACCAGTAGATAGAAAATCTACTGAAAGGAGG... | pathogenic | 238,117 |
Gene FANCI (FA complementation group I) variant at chromosome 15, position 89300321—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | GCAAATTAAAAAAAAGTAGAAATTCTCTGACCAAACAGAATTAAAGAAGAAAGCAGTAACAGAAAGATATCTAGATAATCCCCATATATTAGAAATTAAATGCATTTTTAAATAGCCCATAGTCAAAAAGTCGTCAGGGAAATTAGAAAACATCTTGAATAGAATGGAAACAAACAGACAACATGTCAAAAGATATGATCCAGCCAAAGTGCTATTGAGGAAATTAAAGCAGTTAGTGATTTAAAAATCTCAGATCTCCCATATAAACTTCCACATTAAGAAAATAGAAAAAGAAGAGCAAATTATAATGAAAGTAATCA... | GCAAATTAAAAAAAAGTAGAAATTCTCTGACCAAACAGAATTAAAGAAGAAAGCAGTAACAGAAAGATATCTAGATAATCCCCATATATTAGAAATTAAATGCATTTTTAAATAGCCCATAGTCAAAAAGTCGTCAGGGAAATTAGAAAACATCTTGAATAGAATGGAAACAAACAGACAACATGTCAAAAGATATGATCCAGCCAAAGTGCTATTGAGGAAATTAAAGCAGTTAGTGATTTAAAAATCTCAGATCTCCCATATAAACTTCCACATTAAGAAAATAGAAAAAGAAGAGCAAATTATAATGAAAGTAATCA... | pathogenic | 238,123 |
Clinical significance of chromosome 15, position 89300353, gene FANCI (FA complementation group I): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | AAACAGAATTAAAGAAGAAAGCAGTAACAGAAAGATATCTAGATAATCCCCATATATTAGAAATTAAATGCATTTTTAAATAGCCCATAGTCAAAAAGTCGTCAGGGAAATTAGAAAACATCTTGAATAGAATGGAAACAAACAGACAACATGTCAAAAGATATGATCCAGCCAAAGTGCTATTGAGGAAATTAAAGCAGTTAGTGATTTAAAAATCTCAGATCTCCCATATAAACTTCCACATTAAGAAAATAGAAAAAGAAGAGCAAATTATAATGAAAGTAATCAGAAGGAAGGAAATAGACAAAAGCACAACTATG... | AAACAGAATTAAAGAAGAAAGCAGTAACAGAAAGATATCTAGATAATCCCCATATATTAGAAATTAAATGCATTTTTAAATAGCCCATAGTCAAAAAGTCGTCAGGGAAATTAGAAAACATCTTGAATAGAATGGAAACAAACAGACAACATGTCAAAAGATATGATCCAGCCAAAGTGCTATTGAGGAAATTAAAGCAGTTAGTGATTTAAAAATCTCAGATCTCCCATATAAACTTCCACATTAAGAAAATAGAAAAAGAAGAGCAAATTATAATGAAAGTAATCAGAAGGAAGGAAATAGACAAAAGCACAACTATG... | pathogenic | 238,125 |
Does the variant impacting FANCI (FA complementation group I) on chromosome 15, position 89301380, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | TAATGTAAATTCTGTGCAAATTCTTCCAGGAAATAGGAGAGAACATATTCCACCTCATTTAATTAATGAGGTCAGCATTACCCTGATACCAAACCAGACCCAGACCATTGCAAGAAAACTGCATAGCAATATCCCTGATGAATATAGAGTCTGCTGTGTTAAAGGCAGACTCAGAAGGCTATATACTGAATGATAACCATTTTTGTATGATGTTTCGTAGAAAGTAAAACCATAGGGACAGAAATTAGATCAGTAGTTGCTTGGAAATGGGAGGAGAGAATTGACTATCAGTGAGCACAAGGGAACTTTTAGAGTGATAG... | TAATGTAAATTCTGTGCAAATTCTTCCAGGAAATAGGAGAGAACATATTCCACCTCATTTAATTAATGAGGTCAGCATTACCCTGATACCAAACCAGACCCAGACCATTGCAAGAAAACTGCATAGCAATATCCCTGATGAATATAGAGTCTGCTGTGTTAAAGGCAGACTCAGAAGGCTATATACTGAATGATAACCATTTTTGTATGATGTTTCGTAGAAAGTAAAACCATAGGGACAGAAATTAGATCAGTAGTTGCTTGGAAATGGGAGGAGAGAATTGACTATCAGTGAGCACAAGGGAACTTTTAGAGTGATAG... | pathogenic | 238,130 |
Gene FANCI (FA complementation group I) variant at chromosome 15, position 89305171—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | CTTATTTCATTGAGCACGGTATTCTGAAGATCTTTTAATATCAGTTTGTAGAGAGCTTTCAGTTAGCCTCTTAATTTACCTTTTCCTCAACAGATCAAAACTGCATTTTTGTTAGTCATTTACACTTAAGTATAACGGCATTTCGGTGCCTTTGTAGCTGAAAGAACTGCTGAAGCAGAAAGTTGACTGTGTGTCTGGTGATGCAGATGCTTGCTATCTGAAGACCTTAAGTCTCCTTCACTTAGCTAAGAAAATGCTGTCTGGTTTCTTGCCTCTTTTATTTCTCTTTTTTCTGCCCTTCTCTCTTCTAACCTCCTTTG... | CTTATTTCATTGAGCACGGTATTCTGAAGATCTTTTAATATCAGTTTGTAGAGAGCTTTCAGTTAGCCTCTTAATTTACCTTTTCCTCAACAGATCAAAACTGCATTTTTGTTAGTCATTTACACTTAAGTATAACGGCATTTCGGTGCCTTTGTAGCTGAAAGAACTGCTGAAGCAGAAAGTTGACTGTGTGTCTGGTGATGCAGATGCTTGCTATCTGAAGACCTTAAGTCTCCTTCACTTAGCTAAGAAAATGCTGTCTGGTTTCTTGCCTCTTTTATTTCTCTTTTTTCTGCCCTTCTCTCTTCTAACCTCCTTTG... | pathogenic | 238,145 |
Evaluate the clinical significance of the mutation at chromosome 15, position 89305173 in gene FANCI (FA complementation group I): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Fanconi_anemia_complementation_group_A', 'Fanconi_anemia_complementation_group_I'] | TATTTCATTGAGCACGGTATTCTGAAGATCTTTTAATATCAGTTTGTAGAGAGCTTTCAGTTAGCCTCTTAATTTACCTTTTCCTCAACAGATCAAAACTGCATTTTTGTTAGTCATTTACACTTAAGTATAACGGCATTTCGGTGCCTTTGTAGCTGAAAGAACTGCTGAAGCAGAAAGTTGACTGTGTGTCTGGTGATGCAGATGCTTGCTATCTGAAGACCTTAAGTCTCCTTCACTTAGCTAAGAAAATGCTGTCTGGTTTCTTGCCTCTTTTATTTCTCTTTTTTCTGCCCTTCTCTCTTCTAACCTCCTTTGTT... | TATTTCATTGAGCACGGTATTCTGAAGATCTTTTAATATCAGTTTGTAGAGAGCTTTCAGTTAGCCTCTTAATTTACCTTTTCCTCAACAGATCAAAACTGCATTTTTGTTAGTCATTTACACTTAAGTATAACGGCATTTCGGTGCCTTTGTAGCTGAAAGAACTGCTGAAGCAGAAAGTTGACTGTGTGTCTGGTGATGCAGATGCTTGCTATCTGAAGACCTTAAGTCTCCTTCACTTAGCTAAGAAAATGCTGTCTGGTTTCTTGCCTCTTTTATTTCTCTTTTTTCTGCCCTTCTCTCTTCTAACCTCCTTTGTT... | pathogenic | 238,146 |
Is the genetic change at chromosome 15, position 89305173, within gene FANCI (FA complementation group I) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | TATTTCATTGAGCACGGTATTCTGAAGATCTTTTAATATCAGTTTGTAGAGAGCTTTCAGTTAGCCTCTTAATTTACCTTTTCCTCAACAGATCAAAACTGCATTTTTGTTAGTCATTTACACTTAAGTATAACGGCATTTCGGTGCCTTTGTAGCTGAAAGAACTGCTGAAGCAGAAAGTTGACTGTGTGTCTGGTGATGCAGATGCTTGCTATCTGAAGACCTTAAGTCTCCTTCACTTAGCTAAGAAAATGCTGTCTGGTTTCTTGCCTCTTTTATTTCTCTTTTTTCTGCCCTTCTCTCTTCTAACCTCCTTTGTT... | TATTTCATTGAGCACGGTATTCTGAAGATCTTTTAATATCAGTTTGTAGAGAGCTTTCAGTTAGCCTCTTAATTTACCTTTTCCTCAACAGATCAAAACTGCATTTTTGTTAGTCATTTACACTTAAGTATAACGGCATTTCGGTGCCTTTGTAGCTGAAAGAACTGCTGAAGCAGAAAGTTGACTGTGTGTCTGGTGATGCAGATGCTTGCTATCTGAAGACCTTAAGTCTCCTTCACTTAGCTAAGAAAATGCTGTCTGGTTTCTTGCCTCTTTTATTTCTCTTTTTTCTGCCCTTCTCTCTTCTAACCTCCTTTGTT... | pathogenic | 238,147 |
Located at chromosome 15 position 89305202, the variant affecting gene FANCI (FA complementation group I)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | CTTTTAATATCAGTTTGTAGAGAGCTTTCAGTTAGCCTCTTAATTTACCTTTTCCTCAACAGATCAAAACTGCATTTTTGTTAGTCATTTACACTTAAGTATAACGGCATTTCGGTGCCTTTGTAGCTGAAAGAACTGCTGAAGCAGAAAGTTGACTGTGTGTCTGGTGATGCAGATGCTTGCTATCTGAAGACCTTAAGTCTCCTTCACTTAGCTAAGAAAATGCTGTCTGGTTTCTTGCCTCTTTTATTTCTCTTTTTTCTGCCCTTCTCTCTTCTAACCTCCTTTGTTCTTTTGGCTTCTAAATGCTAATTCTACTG... | CTTTTAATATCAGTTTGTAGAGAGCTTTCAGTTAGCCTCTTAATTTACCTTTTCCTCAACAGATCAAAACTGCATTTTTGTTAGTCATTTACACTTAAGTATAACGGCATTTCGGTGCCTTTGTAGCTGAAAGAACTGCTGAAGCAGAAAGTTGACTGTGTGTCTGGTGATGCAGATGCTTGCTATCTGAAGACCTTAAGTCTCCTTCACTTAGCTAAGAAAATGCTGTCTGGTTTCTTGCCTCTTTTATTTCTCTTTTTTCTGCCCTTCTCTCTTCTAACCTCCTTTGTTCTTTTGGCTTCTAAATGCTAATTCTACTG... | pathogenic | 238,148 |
The chromosome 15, position 89305414 genetic variant in gene FANCI (FA complementation group I): benign or pathogenic? If pathogenic, indicate disease(s). | benign | AGCTAAGAAAATGCTGTCTGGTTTCTTGCCTCTTTTATTTCTCTTTTTTCTGCCCTTCTCTCTTCTAACCTCCTTTGTTCTTTTGGCTTCTAAATGCTAATTCTACTGTTCTTATAGCTAGGTTTTCTCTTTCCCACACCTTTCTGATAACCTAATATCCTCAAGTGGAGAGTCTGGGGGCATGGGAAAGAAAAGAGGGCGCTTTAGCCCTAGACCACTATGGTAGAAGCAGAGGAAGTTCAGGTGTAAGGACCCTAAAACTTTTGGACCTCAGTAAGGACATAGACATTGAGAATTAAATTATATATTATTCTCATAAT... | AGCTAAGAAAATGCTGTCTGGTTTCTTGCCTCTTTTATTTCTCTTTTTTCTGCCCTTCTCTCTTCTAACCTCCTTTGTTCTTTTGGCTTCTAAATGCTAATTCTACTGTTCTTATAGCTAGGTTTTCTCTTTCCCACACCTTTCTGATAACCTAATATCCTCAAGTGGAGAGTCTGGGGGCATGGGAAAGAAAAGAGGGCGCTTTAGCCCTAGACCACTATGGTAGAAGCAGAGGAAGTTCAGGTGTAAGGACCCTAAAACTTTTGGACCTCAGTAAGGACATAGACATTGAGAATTAAATTATATATTATTCTCATAAT... | benign | 238,152 |
Is the variant located on chromosome 15 at position 89306148, gene FANCI (FA complementation group I), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | GGGGGTGGAGGTAGAAATTGGTATAACCACTATGGAAAACTGTTCAGCAATATCTACTAAAATTAAACATATGCCTATGACTCAACAATTCGAATCACAACAGAAAAATGTGGAAGAATTCTCTTAGCAGCACTATTTTAGTAGGTAAAACAAACCTAAGTGTTCATCAGCAGTAGAAAGGATAAAAGAATTATGATATATTCACACAGTGGAATCCTATACAGCAAATAAGCATGAACAAACTACATGTACACACAACTTGGAGAGGATCTCACAAATGTACTGTAAAACAAAAGAAGCCAGACACAAGAAAGGGTACT... | GGGGGTGGAGGTAGAAATTGGTATAACCACTATGGAAAACTGTTCAGCAATATCTACTAAAATTAAACATATGCCTATGACTCAACAATTCGAATCACAACAGAAAAATGTGGAAGAATTCTCTTAGCAGCACTATTTTAGTAGGTAAAACAAACCTAAGTGTTCATCAGCAGTAGAAAGGATAAAAGAATTATGATATATTCACACAGTGGAATCCTATACAGCAAATAAGCATGAACAAACTACATGTACACACAACTTGGAGAGGATCTCACAAATGTACTGTAAAACAAAAGAAGCCAGACACAAGAAAGGGTACT... | pathogenic | 238,158 |
A genetic variant at chromosome 15, position 89307637, affecting gene FANCI (FA complementation group I)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | CACTCTTTTCTTTCAGTTACTTGTTCTGAGTCAGGCCGAGAAGGTTCTAGAAGAAGTGGACTGGCTAATCACCAAGCTTAAGGGACAAGTGAGCCAAGAAACCTTATCAGGTAAGATAAGTTCAACTGGGATTCCAGGAATTGACATGAGCAAGGTCAAAATTCATATTGGGTCGGTGCATAAAAATGGAGCCCCTGAGCTAAATTTCTTATTTGCCTTTAAGCTAGATTTTTTCCTATGTGATGAAAGAAGTAGAAGATCATATGTCTTATCACAGCACGATTAATTCACTCTGCATATTGAATGTTCGTTTTTCCATA... | CACTCTTTTCTTTCAGTTACTTGTTCTGAGTCAGGCCGAGAAGGTTCTAGAAGAAGTGGACTGGCTAATCACCAAGCTTAAGGGACAAGTGAGCCAAGAAACCTTATCAGGTAAGATAAGTTCAACTGGGATTCCAGGAATTGACATGAGCAAGGTCAAAATTCATATTGGGTCGGTGCATAAAAATGGAGCCCCTGAGCTAAATTTCTTATTTGCCTTTAAGCTAGATTTTTTCCTATGTGATGAAAGAAGTAGAAGATCATATGTCTTATCACAGCACGATTAATTCACTCTGCATATTGAATGTTCGTTTTTCCATA... | pathogenic | 238,164 |
Variant at chromosome position 89307642, chromosome 15, gene FANCI (FA complementation group I): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | TTTTCTTTCAGTTACTTGTTCTGAGTCAGGCCGAGAAGGTTCTAGAAGAAGTGGACTGGCTAATCACCAAGCTTAAGGGACAAGTGAGCCAAGAAACCTTATCAGGTAAGATAAGTTCAACTGGGATTCCAGGAATTGACATGAGCAAGGTCAAAATTCATATTGGGTCGGTGCATAAAAATGGAGCCCCTGAGCTAAATTTCTTATTTGCCTTTAAGCTAGATTTTTTCCTATGTGATGAAAGAAGTAGAAGATCATATGTCTTATCACAGCACGATTAATTCACTCTGCATATTGAATGTTCGTTTTTCCATAAAGAC... | TTTTCTTTCAGTTACTTGTTCTGAGTCAGGCCGAGAAGGTTCTAGAAGAAGTGGACTGGCTAATCACCAAGCTTAAGGGACAAGTGAGCCAAGAAACCTTATCAGGTAAGATAAGTTCAACTGGGATTCCAGGAATTGACATGAGCAAGGTCAAAATTCATATTGGGTCGGTGCATAAAAATGGAGCCCCTGAGCTAAATTTCTTATTTGCCTTTAAGCTAGATTTTTTCCTATGTGATGAAAGAAGTAGAAGATCATATGTCTTATCACAGCACGATTAATTCACTCTGCATATTGAATGTTCGTTTTTCCATAAAGAC... | pathogenic | 238,165 |
Is the genetic mutation found on chromosome 15 at position 89307643, within the gene FANCI (FA complementation group I), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | TTTCTTTCAGTTACTTGTTCTGAGTCAGGCCGAGAAGGTTCTAGAAGAAGTGGACTGGCTAATCACCAAGCTTAAGGGACAAGTGAGCCAAGAAACCTTATCAGGTAAGATAAGTTCAACTGGGATTCCAGGAATTGACATGAGCAAGGTCAAAATTCATATTGGGTCGGTGCATAAAAATGGAGCCCCTGAGCTAAATTTCTTATTTGCCTTTAAGCTAGATTTTTTCCTATGTGATGAAAGAAGTAGAAGATCATATGTCTTATCACAGCACGATTAATTCACTCTGCATATTGAATGTTCGTTTTTCCATAAAGACT... | TTTCTTTCAGTTACTTGTTCTGAGTCAGGCCGAGAAGGTTCTAGAAGAAGTGGACTGGCTAATCACCAAGCTTAAGGGACAAGTGAGCCAAGAAACCTTATCAGGTAAGATAAGTTCAACTGGGATTCCAGGAATTGACATGAGCAAGGTCAAAATTCATATTGGGTCGGTGCATAAAAATGGAGCCCCTGAGCTAAATTTCTTATTTGCCTTTAAGCTAGATTTTTTCCTATGTGATGAAAGAAGTAGAAGATCATATGTCTTATCACAGCACGATTAATTCACTCTGCATATTGAATGTTCGTTTTTCCATAAAGACT... | pathogenic | 238,166 |
Clinical classification of chromosome 15, position 89307643, gene FANCI (FA complementation group I): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | TTTCTTTCAGTTACTTGTTCTGAGTCAGGCCGAGAAGGTTCTAGAAGAAGTGGACTGGCTAATCACCAAGCTTAAGGGACAAGTGAGCCAAGAAACCTTATCAGGTAAGATAAGTTCAACTGGGATTCCAGGAATTGACATGAGCAAGGTCAAAATTCATATTGGGTCGGTGCATAAAAATGGAGCCCCTGAGCTAAATTTCTTATTTGCCTTTAAGCTAGATTTTTTCCTATGTGATGAAAGAAGTAGAAGATCATATGTCTTATCACAGCACGATTAATTCACTCTGCATATTGAATGTTCGTTTTTCCATAAAGACT... | TTTCTTTCAGTTACTTGTTCTGAGTCAGGCCGAGAAGGTTCTAGAAGAAGTGGACTGGCTAATCACCAAGCTTAAGGGACAAGTGAGCCAAGAAACCTTATCAGGTAAGATAAGTTCAACTGGGATTCCAGGAATTGACATGAGCAAGGTCAAAATTCATATTGGGTCGGTGCATAAAAATGGAGCCCCTGAGCTAAATTTCTTATTTGCCTTTAAGCTAGATTTTTTCCTATGTGATGAAAGAAGTAGAAGATCATATGTCTTATCACAGCACGATTAATTCACTCTGCATATTGAATGTTCGTTTTTCCATAAAGACT... | pathogenic | 238,167 |
Determine whether the variant at chromosome 15, position 89312816, in gene FANCI (FA complementation group I) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AAAGCAACGAAAACCATTGCTGCAACTCTTAGCATCCTGCCCAGAACTGTATACCTTTAAAAGATGCTTCTCAAGGGTCGGACATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGAATCACAAGGTCTGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCAACTAAAGATACAAAAAATAGCAGGGCACGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTCGAAACTAGCCCGGCCAACATGGTGAAACCCCATT... | AAAGCAACGAAAACCATTGCTGCAACTCTTAGCATCCTGCCCAGAACTGTATACCTTTAAAAGATGCTTCTCAAGGGTCGGACATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGAATCACAAGGTCTGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCAACTAAAGATACAAAAAATAGCAGGGCACGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTCGAAACTAGCCCGGCCAACATGGTGAAACCCCATT... | benign | 238,172 |
The mutation in gene FANCI (FA complementation group I) at chromosome 15, position 89312912—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | CCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGAATCACAAGGTCTGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCAACTAAAGATACAAAAAATAGCAGGGCACGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTCGAAACTAGCCCGGCCAACATGGTGAAACCCCATTTCTACTAAAAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCC... | CCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGAATCACAAGGTCTGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCAACTAAAGATACAAAAAATAGCAGGGCACGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTCGAAACTAGCCCGGCCAACATGGTGAAACCCCATTTCTACTAAAAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCC... | pathogenic | 238,175 |
A genetic alteration at chromosome 15, position 89312927, in gene FANCI (FA complementation group I)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | CTTTGGGAGGCCGAGGTGGGAGAATCACAAGGTCTGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCAACTAAAGATACAAAAAATAGCAGGGCACGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTCGAAACTAGCCCGGCCAACATGGTGAAACCCCATTTCTACTAAAAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTG... | CTTTGGGAGGCCGAGGTGGGAGAATCACAAGGTCTGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCAACTAAAGATACAAAAAATAGCAGGGCACGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTCGAAACTAGCCCGGCCAACATGGTGAAACCCCATTTCTACTAAAAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTG... | pathogenic | 238,176 |
Considering the genetic mutation at chromosome 15, position 89314480, impacting FANCI (FA complementation group I): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CCATTTTTTCCCTATCTTCTAACATCTGTTGCACAGATAGTCCTGTTTACTCCAGACTTGGTCCTCATACCCTGTGTAATTACCTTCTAAGAAAATTGCCACTAGTTGGTGGGCATGGTGGCTTAGGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGCAGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACACCGTCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCACTTAACTCGGGGCGCA... | CCATTTTTTCCCTATCTTCTAACATCTGTTGCACAGATAGTCCTGTTTACTCCAGACTTGGTCCTCATACCCTGTGTAATTACCTTCTAAGAAAATTGCCACTAGTTGGTGGGCATGGTGGCTTAGGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGCAGATCACCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACACCGTCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCACTTAACTCGGGGCGCA... | benign | 238,180 |
The mutation impacting FANCI (FA complementation group I) on chromosome 15 at position 89314689: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_I'] | AAAACACCGTCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCACTTAACTCGGGGCGCAGAGGTTACAGTGGGTCGACATCACGCCACTGCACACCAGCCTGGGTGACAGCAAAGCTCTGTCTTAAAAAAAAAAAAAAAAAAATTAGCACTAGCATGCTAGCTCCACAGAAAAATCATCAGGAATAAGAGAATGTGTTTCTATTTCTTTAGAATAAGAGTAAGAGCCTGAACTATACGGGAGAGAAAAAGGAGAAACCTGCTGCCGTT... | AAAACACCGTCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCACTTAACTCGGGGCGCAGAGGTTACAGTGGGTCGACATCACGCCACTGCACACCAGCCTGGGTGACAGCAAAGCTCTGTCTTAAAAAAAAAAAAAAAAAAATTAGCACTAGCATGCTAGCTCCACAGAAAAATCATCAGGAATAAGAGAATGTGTTTCTATTTCTTTAGAATAAGAGTAAGAGCCTGAACTATACGGGAGAGAAAAAGGAGAAACCTGCTGCCGTT... | pathogenic | 238,182 |
Is the genetic mutation found on chromosome 15 at position 89316701, within the gene POLG, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCCCATTTACCTTCTTGACAGATCTGGCAAACTGAAGCAGCACAACTACAATGGAGGAAAAGAGACTCTGGGCCATTTGTGTGTTTGCCATCCCCCCTCTCCCCCCCCCCCCCTTTTTTTTTTTGAGACTGTGTCTCATTCTGTCACCCAGGCTGGAGTGCACATTCAAGTGATCCTCTGGCCTCAGCCTCCAGAGTAGCTGGGACTACAGTCATATGCCATCATACCCCACTAGT... | CTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCCCATTTACCTTCTTGACAGATCTGGCAAACTGAAGCAGCACAACTACAATGGAGGAAAAGAGACTCTGGGCCATTTGTGTGTTTGCCATCCCCCCTCTCCCCCCCCCCCCCTTTTTTTTTTTGAGACTGTGTCTCATTCTGTCACCCAGGCTGGAGTGCACATTCAAGTGATCCTCTGGCCTCAGCCTCCAGAGTAGCTGGGACTACAGTCATATGCCATCATACCCCACTAGT... | benign | 238,196 |
Considering the variant on chromosome 15, location 89317388, involving gene POLG, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Mitochondrial_disease'] | ACATCCTAGACATGGTTCTTCGAGAGGATGGTGAAGATGAAAATGAAGAGGTCAGTGCTGGCTTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATC... | ACATCCTAGACATGGTTCTTCGAGAGGATGGTGAAGATGAAAATGAAGAGGTCAGTGCTGGCTTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATC... | pathogenic | 238,212 |
Gene POLG (DNA polymerase gamma, catalytic subunit) variant at chromosome 15, position 89317389—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_4b', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1', 'Progressive_sclerosing_poliodystrophy', 'Sensory_ataxic_neuropathy,_dysa... | CATCCTAGACATGGTTCTTCGAGAGGATGGTGAAGATGAAAATGAAGAGGTCAGTGCTGGCTTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCT... | CATCCTAGACATGGTTCTTCGAGAGGATGGTGAAGATGAAAATGAAGAGGTCAGTGCTGGCTTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCT... | pathogenic | 238,214 |
A genetic variant at chromosome 15, position 89317406, affecting gene POLG (DNA polymerase gamma, catalytic subunit)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Mitochondrial_disease', 'Progressive_sclerosing_poliodystrophy'] | TTCGAGAGGATGGTGAAGATGAAAATGAAGAGGTCAGTGCTGGCTTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGA... | TTCGAGAGGATGGTGAAGATGAAAATGAAGAGGTCAGTGCTGGCTTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGA... | pathogenic | 238,215 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 15, position 89317417, gene POLG (DNA polymerase gamma, catalytic subunit). What disease(s) is it linked to if pathogenic? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_4b', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1', 'Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1', 'Progressive_sclerosing_poliodystrophy', 'Sensory_ataxic_neuropathy,_dysa... | GGTGAAGATGAAAATGAAGAGGTCAGTGCTGGCTTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTAT... | GGTGAAGATGAAAATGAAGAGGTCAGTGCTGGCTTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTAT... | pathogenic | 238,217 |
Variant at chromosome position 89317441, chromosome 15, gene POLG (DNA polymerase gamma, catalytic subunit): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Progressive_sclerosing_poliodystrophy', 'Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis'] | AGTGCTGGCTTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTT... | AGTGCTGGCTTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTT... | pathogenic | 238,219 |
Is the genetic change at chromosome 15, position 89317450, within gene POLG benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Progressive_sclerosing_poliodystrophy'] | TTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCA... | TTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCA... | pathogenic | 238,221 |
Evaluate the clinical significance of the mutation at chromosome 15, position 89317479 in gene POLG (DNA polymerase gamma, catalytic subunit): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Progressive_sclerosing_poliodystrophy'] | GCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCAT... | GCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCAT... | pathogenic | 238,223 |
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