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 |
|---|---|---|---|---|---|
A genetic alteration at chromosome 16, position 89740009, in gene FANCA—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCT... | GCCTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCT... | pathogenic | 259,184 |
Variant chromosome 16, position 89740011, gene FANCA: benign or pathogenic? Disease(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGG... | CTCTGTCCCCCAGGTGTGAGGTCTGTGGGTTCCAGTGCAGGCAGCGGGCATCCCTCAAGTACCACATGACCAAACACAAGGCTGAGACTGAGCTGGACTTTGCCTGTGACCAGTGTGGCCGGCGGTTTGAGAAGGCCCACAACCTCAATGTACACATGTCCATGGTGCACCCGCTGACACAGACCCAGGACAAGGCCCTGCCCCTGGAGGCGGAACCACCACCTGGGCCACCGAGCCCCTCTGTGACCACAGAGGGCCAGGCGGTGAAGCCCGAACCCACCTGAGGACGGCAGTGAGGATGAGCACCTCTAGCAGCCTGG... | pathogenic | 259,185 |
Variant on chromosome 16, at position 89740818, affecting FANCA: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGC... | GGGCTCTGGCAGAAATAGTCGAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGC... | pathogenic | 259,205 |
Does the genetic variant at chromosome 16, position 89740838, impacting gene FANCA, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['FANCA-related_disorder', 'Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAG... | GAGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAG... | pathogenic | 259,213 |
Evaluate this variant at chromosome 16, position 89740839, gene FANCA: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A', 'likely other unspecified diseases'] | AGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGG... | AGTTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGG... | pathogenic | 259,214 |
Mutation at chromosome 16, position 89740841, within FANCA: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['FANCA-related_disorder', 'Fanconi_anemia', 'Fanconi_anemia_complementation_group_A', 'likely other unspecified diseases'] | TTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTG... | TTGTATTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTG... | pathogenic | 259,216 |
A genetic alteration at chromosome 16, position 89742802, in gene FANCA (FA complementation group A)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCC... | GCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCC... | pathogenic | 259,225 |
Mutation at chromosome 16, position 89742802, within FANCA (FA complementation group A): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCC... | GCCTGGCCCACAGTGGGAGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCC... | pathogenic | 259,226 |
The mutation impacting FANCA (FA complementation group A) on chromosome 16 at position 89742840: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAG... | GGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAG... | pathogenic | 259,230 |
Is the variant located on chromosome 16 at position 89742868, gene FANCA (FA complementation group A), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCT... | GACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCT... | pathogenic | 259,235 |
Determine if the mutation at chromosome 16, position 89742925 in gene FANCA (FA complementation group A) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | AAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGA... | AAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGA... | pathogenic | 259,246 |
Variant in FANCA (FA complementation group A), chromosome 16, position 89742930—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | TGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGT... | TGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGT... | pathogenic | 259,247 |
A genetic variant at chromosome 16, position 89742939, affecting gene FANCA (FA complementation group A)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | TATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAAT... | TATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAAACAGTTTGAAAAAGTGACAAGAGCCAGAAAGAGAAGACTGCTGCGGTCTCCTTGGCTGTGCGCAGTCCCAACTCAGCATCATCTCCCTGCAAGGCCTCCTGTCAGAAGTGTTTGTAAAAT... | pathogenic | 259,250 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 89745026, gene FANCA (FA complementation group A): what disease(s) if pathogenic? | pathogenic; ['FANCA-related_disorder', 'Fanconi_anemia', 'Fanconi_anemia_complementation_group_A', 'Hereditary_cancer-predisposing_syndrome'] | CCATACAACCACGCCATAGAAACCAAGTCCTTATTCCCACCTGTCACCTTTGGGGCCTGCCTTTCCATCAGAGGACAGAGAAGGGTTTCAGGACCATCAGAAACTAGGTCTGCATCCCCCAGGTCCACGTGAGAGTGTGGGCAGGTGCTGGTGCTGCCCCCACAGCATCCTGGCGTTCTGAGAGCTGCTGACTGAGCAGGCAGCTGGCCTGGTCCTGTCTACCTTGCCCTGTGCTCTTGGGCCCCAGCTGCCTACATTTTGGAAGAAGAGGCCTCATTTTCCTCAGTTGCCCATGCCTGGCCCTGTGGATCAGGCATTCC... | CCATACAACCACGCCATAGAAACCAAGTCCTTATTCCCACCTGTCACCTTTGGGGCCTGCCTTTCCATCAGAGGACAGAGAAGGGTTTCAGGACCATCAGAAACTAGGTCTGCATCCCCCAGGTCCACGTGAGAGTGTGGGCAGGTGCTGGTGCTGCCCCCACAGCATCCTGGCGTTCTGAGAGCTGCTGACTGAGCAGGCAGCTGGCCTGGTCCTGTCTACCTTGCCCTGTGCTCTTGGGCCCCAGCTGCCTACATTTTGGAAGAAGAGGCCTCATTTTCCTCAGTTGCCCATGCCTGGCCCTGTGGATCAGGCATTCC... | pathogenic | 259,268 |
Does the variant impacting FANCA (FA complementation group A) on chromosome 16, position 89745062, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CCACCTGTCACCTTTGGGGCCTGCCTTTCCATCAGAGGACAGAGAAGGGTTTCAGGACCATCAGAAACTAGGTCTGCATCCCCCAGGTCCACGTGAGAGTGTGGGCAGGTGCTGGTGCTGCCCCCACAGCATCCTGGCGTTCTGAGAGCTGCTGACTGAGCAGGCAGCTGGCCTGGTCCTGTCTACCTTGCCCTGTGCTCTTGGGCCCCAGCTGCCTACATTTTGGAAGAAGAGGCCTCATTTTCCTCAGTTGCCCATGCCTGGCCCTGTGGATCAGGCATTCCCTCCTACAACAGAGAACAAAGGACTGCCTGGCTCTG... | CCACCTGTCACCTTTGGGGCCTGCCTTTCCATCAGAGGACAGAGAAGGGTTTCAGGACCATCAGAAACTAGGTCTGCATCCCCCAGGTCCACGTGAGAGTGTGGGCAGGTGCTGGTGCTGCCCCCACAGCATCCTGGCGTTCTGAGAGCTGCTGACTGAGCAGGCAGCTGGCCTGGTCCTGTCTACCTTGCCCTGTGCTCTTGGGCCCCAGCTGCCTACATTTTGGAAGAAGAGGCCTCATTTTCCTCAGTTGCCCATGCCTGGCCCTGTGGATCAGGCATTCCCTCCTACAACAGAGAACAAAGGACTGCCTGGCTCTG... | pathogenic | 259,272 |
Classify the chromosome 16 variant at position 89746656 affecting gene FANCA (FA complementation group A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | TCAGACGGGAGCCTGGGAGAGGCCGTTCCTCACTCAGACGAGACACTGGCAGAGGCTGTTTTTTTTTTTGTTTTTTTTCTGGACAGAGTCTTGCTCTATTGGCCGTTGGAGTGATCTCGGCTCACTGGAAACTCCACCTCCTGGGTTCAACTGATTCTCCTGCCTCGGCCTCCCCAGTAGTTGGGATTACAGGCGCCCACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGC... | TCAGACGGGAGCCTGGGAGAGGCCGTTCCTCACTCAGACGAGACACTGGCAGAGGCTGTTTTTTTTTTTGTTTTTTTTCTGGACAGAGTCTTGCTCTATTGGCCGTTGGAGTGATCTCGGCTCACTGGAAACTCCACCTCCTGGGTTCAACTGATTCTCCTGCCTCGGCCTCCCCAGTAGTTGGGATTACAGGCGCCCACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGC... | pathogenic | 259,300 |
The chromosome 16, position 89746833 genetic variant in gene FANCA: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | TAGTTGGGATTACAGGCGCCCACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGT... | TAGTTGGGATTACAGGCGCCCACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGT... | pathogenic | 259,309 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 89746836, gene FANCA: what disease(s) if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | TTGGGATTACAGGCGCCCACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGC... | TTGGGATTACAGGCGCCCACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGC... | pathogenic | 259,310 |
Does the variant impacting FANCA on chromosome 16, position 89746840, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GATTACAGGCGCCCACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAG... | GATTACAGGCGCCCACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAG... | pathogenic | 259,311 |
Clinical classification of chromosome 16, position 89746844, gene FANCA: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Fanconi_anemia_complementation_group_A'] | ACAGGCGCCCACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGG... | ACAGGCGCCCACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGG... | pathogenic | 259,312 |
Is the genetic mutation found on chromosome 16 at position 89749728, within the gene FANCA (FA complementation group A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGC... | GACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGC... | pathogenic | 259,351 |
Located at chromosome 16 position 89749821, the variant affecting gene FANCA (FA complementation group A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTT... | CTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTT... | pathogenic | 259,365 |
Classify the chromosome 16 variant at position 89758600 affecting gene FANCA (FA complementation group A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['FANCA-related_disorder', 'Fanconi_anemia'] | GAGGTCGAGGCTGCAGTGGGCTGCAGTCACTGTACCCCAGCCTGGGTGACAAAGAAAGACCCAGTTTCAAAATAAATATAAATAAGACAAAGTAAGACTATCTCAAAAAACAAACAAACAAAGTGAATGGATAAACAAAATATGGCTGATCTTTCTGTTCCGCAGTGAGCAGCTCTGTGCAAACCTACCCATAAAGGCTGGGGAAGCTGGAAGGCTGAAGAGAGGCTGAATAATCCAGTTTCTCAGACAGAAACGTTTAAGGACTTACAGACAGAAACCATGTCTCAGGCAGCCTAGAGAGACGATGCATCCCTGCACTG... | GAGGTCGAGGCTGCAGTGGGCTGCAGTCACTGTACCCCAGCCTGGGTGACAAAGAAAGACCCAGTTTCAAAATAAATATAAATAAGACAAAGTAAGACTATCTCAAAAAACAAACAAACAAAGTGAATGGATAAACAAAATATGGCTGATCTTTCTGTTCCGCAGTGAGCAGCTCTGTGCAAACCTACCCATAAAGGCTGGGGAAGCTGGAAGGCTGAAGAGAGGCTGAATAATCCAGTTTCTCAGACAGAAACGTTTAAGGACTTACAGACAGAAACCATGTCTCAGGCAGCCTAGAGAGACGATGCATCCCTGCACTG... | pathogenic | 259,398 |
The genetic variant at chromosome 16, position 89758647, affecting gene FANCA (FA complementation group A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GACAAAGAAAGACCCAGTTTCAAAATAAATATAAATAAGACAAAGTAAGACTATCTCAAAAAACAAACAAACAAAGTGAATGGATAAACAAAATATGGCTGATCTTTCTGTTCCGCAGTGAGCAGCTCTGTGCAAACCTACCCATAAAGGCTGGGGAAGCTGGAAGGCTGAAGAGAGGCTGAATAATCCAGTTTCTCAGACAGAAACGTTTAAGGACTTACAGACAGAAACCATGTCTCAGGCAGCCTAGAGAGACGATGCATCCCTGCACTGTTACCCCCAGGCAGGGCTTCTATACCACAGGGAAGGACTATTGAAGT... | GACAAAGAAAGACCCAGTTTCAAAATAAATATAAATAAGACAAAGTAAGACTATCTCAAAAAACAAACAAACAAAGTGAATGGATAAACAAAATATGGCTGATCTTTCTGTTCCGCAGTGAGCAGCTCTGTGCAAACCTACCCATAAAGGCTGGGGAAGCTGGAAGGCTGAAGAGAGGCTGAATAATCCAGTTTCTCAGACAGAAACGTTTAAGGACTTACAGACAGAAACCATGTCTCAGGCAGCCTAGAGAGACGATGCATCCCTGCACTGTTACCCCCAGGCAGGGCTTCTATACCACAGGGAAGGACTATTGAAGT... | pathogenic | 259,404 |
A genetic alteration at chromosome 16, position 89758701, in gene FANCA (FA complementation group A)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CTCAAAAAACAAACAAACAAAGTGAATGGATAAACAAAATATGGCTGATCTTTCTGTTCCGCAGTGAGCAGCTCTGTGCAAACCTACCCATAAAGGCTGGGGAAGCTGGAAGGCTGAAGAGAGGCTGAATAATCCAGTTTCTCAGACAGAAACGTTTAAGGACTTACAGACAGAAACCATGTCTCAGGCAGCCTAGAGAGACGATGCATCCCTGCACTGTTACCCCCAGGCAGGGCTTCTATACCACAGGGAAGGACTATTGAAGTCAACCCCTCAGGGAAAGGCAAGAATGCTCTGTGAATCTAACCGCTGGATTTATG... | CTCAAAAAACAAACAAACAAAGTGAATGGATAAACAAAATATGGCTGATCTTTCTGTTCCGCAGTGAGCAGCTCTGTGCAAACCTACCCATAAAGGCTGGGGAAGCTGGAAGGCTGAAGAGAGGCTGAATAATCCAGTTTCTCAGACAGAAACGTTTAAGGACTTACAGACAGAAACCATGTCTCAGGCAGCCTAGAGAGACGATGCATCCCTGCACTGTTACCCCCAGGCAGGGCTTCTATACCACAGGGAAGGACTATTGAAGTCAACCCCTCAGGGAAAGGCAAGAATGCTCTGTGAATCTAACCGCTGGATTTATG... | pathogenic | 259,411 |
Evaluate the clinical significance of the mutation at chromosome 16, position 89761947 in gene FANCA (FA complementation group A): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CCGGGACTGGGGTGCTCCACCCACGCTGTGCGGGACCTGGGTGCTCCACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCA... | CCGGGACTGGGGTGCTCCACCCACGCTGTGCGGGACCTGGGTGCTCCACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCA... | pathogenic | 259,415 |
Mutation at chromosome 16, position 89761961, within FANCA (FA complementation group A): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CTCCACCCACGCTGTGCGGGACCTGGGTGCTCCACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAA... | CTCCACCCACGCTGTGCGGGACCTGGGTGCTCCACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAA... | pathogenic | 259,420 |
Is chromosome 16, position 89761968, gene FANCA (FA complementation group A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CACGCTGTGCGGGACCTGGGTGCTCCACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGT... | CACGCTGTGCGGGACCTGGGTGCTCCACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGT... | pathogenic | 259,421 |
Variant chromosome 16, position 89761970, gene FANCA (FA complementation group A): benign or pathogenic? Disease(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CGCTGTGCGGGACCTGGGTGCTCCACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGA... | CGCTGTGCGGGACCTGGGTGCTCCACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGA... | pathogenic | 259,422 |
Gene FANCA (FA complementation group A) variant at chromosome position 89762014 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Fanconi_anemia'] | GGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGGCTTGGCACGACCTGAACCA... | GGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGGGCTTGGCACGACCTGAACCA... | pathogenic | 259,426 |
Clinical significance of chromosome 16, position 89764898, gene FANCA (FA complementation group A): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAAC... | CCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAAC... | pathogenic | 259,435 |
Is the genetic variant on chromosome 16, position 89764927, gene FANCA (FA complementation group A), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['FANCA-related_disorder', 'Fanconi_anemia'] | GATCACGAGGTCAGCAGATTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAG... | GATCACGAGGTCAGCAGATTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAG... | pathogenic | 259,438 |
The mutation in gene FANCA (FA complementation group A) at chromosome 16, position 89764936—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Fanconi_anemia_complementation_group_A'] | GTCAGCAGATTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCA... | GTCAGCAGATTGAGACCATCCTAGCTAACACGGTGAAACCCTGTTTCTACTAAAAATACGAAAAAAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCA... | pathogenic | 259,440 |
Variant in FANCA, chromosome 16, position 89765000—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | AAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAA... | AAAAAAAAAAAAAGGGTTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAA... | pathogenic | 259,448 |
Chromosome 16, position 89765058, gene FANCA: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACA... | GGCCGAGGCGGGAGGATGATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGTTAGCTGGGCGCGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCCGAGTCAGGAGAATCCCTTGAACCCAGAAGGCTGAGGTTGCAGTGACCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGATTCCATCTCCAAAAAAAAAAATAATAATTTAAAAATAATAAAATAATTTCACAAAAGGCTTGGCACAGTGGCTCACACTTGCAATCTCAACA... | pathogenic | 259,456 |
Mutation found at chromosome 16 position 89767146, gene FANCA (FA complementation group A): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Fanconi_anemia_complementation_group_A'] | ATTGCGCAAGTTTCACTGTGAGTGGCTGAGCAAATGCTCAGGTGGAAACAGACCATCAACAGCCCACACACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTG... | ATTGCGCAAGTTTCACTGTGAGTGGCTGAGCAAATGCTCAGGTGGAAACAGACCATCAACAGCCCACACACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTG... | pathogenic | 259,470 |
Chromosome 16, position 89767195, gene FANCA (FA complementation group A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | AGACCATCAACAGCCCACACACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCC... | AGACCATCAACAGCCCACACACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCC... | pathogenic | 259,477 |
The mutation impacting FANCA (FA complementation group A) on chromosome 16 at position 89767205: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CAGCCCACACACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGA... | CAGCCCACACACACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGA... | pathogenic | 259,478 |
The mutation in gene FANCA (FA complementation group A) at chromosome 16, position 89767217—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | ACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCAT... | ACAACCCCACATTCAGAGGACCTCAGTCCAGCCCCTGGGAGGGCGCAATACACGACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTTAGGGGACCTCAGTCCAGCCCTTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGGAGGGCACAACACACAACCCCACGTTCAGGGGACCTCAGTCCAGCCCCTGGAAGGGTGCAGAGCCCCTCAGCGATCATGGCTGTGCACAGTGCTCCAGGGAAGAGCCTATGTGCAGACCTTCCTGCCAT... | pathogenic | 259,482 |
Variant on chromosome 16, at position 89769822, affecting FANCA (FA complementation group A): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCCTGACTTCGTGCTCCGCCCACCTCAGCCTCCCAAAATGCTGGGCTTACAGGCATGAGTCACTGCAACCAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAG... | TCCTGACTTCGTGCTCCGCCCACCTCAGCCTCCCAAAATGCTGGGCTTACAGGCATGAGTCACTGCAACCAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAG... | benign | 259,485 |
Mutation at chromosome 16, position 89769886, within FANCA (FA complementation group A): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GCAACCAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGT... | GCAACCAGTCGAGTTTTTAATTTTTTTTAGTAGAGACGGGGTTTCCCCATGTTGGACAGGCTGGTCTCGAACTGCTGACCTCAAGTGATCTGCCCACCTCAGCCACTCAAAGTGCTGGGATTACAGCGTTAGCCACCGTGCCTGGCCCAGCCCTCGGTTTATTTTTTGTTTTATACAGGGCCTTACTCTGATGCCCAGGCTGGAGTGCAGTCGCACAATCACAGCTCAGGGGATCACTTAAACCCAGAAGTTCAAGACCAGCTTGGGCAACACAGTGAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGT... | pathogenic | 259,496 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 89770162, gene FANCA (FA complementation group A). What disease(s) is it linked to if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGA... | GAGACCCCATCTCTCACTAGCTGGGTGTGTGGGTGTGCACCTGTGGTCTCAGCTACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGA... | pathogenic | 259,517 |
Evaluate this variant at chromosome 16, position 89770216, gene FANCA (FA complementation group A): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | ACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATC... | ACTGGGAGGCTGAGGTGGGAAGATCACTTCAGCCTGGGGGACACAGTGAGACCTGTGTCATTTACTCAACATACATACCTACAGCAATACCCATGTGAAAAATTCTCACTTGTAACCAAGGAAGCTCAGAATGAGATTCCATGAGGCAATGGAGATGTCAAAGCACTGTCATGGTGTTCTTACAGTTCTAATACTTCTGTTTTACTAATACATATTTGAGCTGGGCGTGGAGGCTCACACCTGTAATCCTAACTGAAGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATC... | pathogenic | 259,525 |
Does the variant impacting FANCA (FA complementation group A) on chromosome 16, position 89770600, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | AAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGC... | AAGCTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGC... | pathogenic | 259,543 |
Clinical classification of chromosome 16, position 89770603, gene FANCA (FA complementation group A): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCC... | CTGAGGCACAAGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCC... | pathogenic | 259,544 |
Clinical significance of chromosome 16, position 89770613, gene FANCA (FA complementation group A): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | AGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCC... | AGAACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCC... | pathogenic | 259,545 |
Gene mutation in FANCA (FA complementation group A) at chromosome 16, position 89770616—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Fanconi_anemia_complementation_group_A'] | ACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATT... | ACTGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCTCAAAACAAAAACCAAAAACCAAAAAACAAAAAAAAAAACAAAACACACACCAAATATATATTTCATTCTCCCTTTCTTATGCAAAAAGTAGCATCTGAGACCGAGTTCAGTATTTTGCTTTCTTCACCTGGATATATATCCTGAGGCATCTCTGTGTTTCTAAGAGAGGATGGCCCTGTCTCCCCCAAGCCACCTGGATGCCTCCCTCCTCACCAGCTCCCAACTTCTCCATT... | pathogenic | 259,548 |
Determine whether the variant at chromosome 16, position 89771676, in gene FANCA (FA complementation group A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGG... | GATCTCATTTTTATGAACAAAGAAACAAACGCACGCATATTATAAACAAATGACAGATAAAATTCTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGG... | pathogenic | 259,556 |
A genetic alteration at chromosome 16, position 89771740, in gene FANCA (FA complementation group A)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Fanconi_anemia_complementation_group_A'] | CTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCAC... | CTGGAAGGATATATACCAAAATGCTAAAAAGTGGTTATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCAC... | pathogenic | 259,564 |
Mutation found at chromosome 16 position 89771776, gene FANCA (FA complementation group A): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | ATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCA... | ATCTTTGGGTGGTATGTCTGCATGTCTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCA... | pathogenic | 259,567 |
Does the variant on chromosome 16 at location 89771801 affecting gene FANCA (FA complementation group A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTG... | CTGTCTCTTCTAATTTTATCAAACGAGCATGTGTCACTTTTCGAGAGAGAGGAGAGAAGACGCGACTGTGGAAGAAGAGCTCACTTCAGGCAGAAGAACAAGGAATCCCTCGTCCTACAGGTCAGGAGGCTGTCAAAGAGCGCAGGGACAGGAAGGCCAGCACCAGGTGCAGGAGGACCCACATCCACCTCTGGGAGCGCAGACCTGGACTCACCCAGGTGCACGGCCAGGGCAGCCAACCCCAGCACATGTGGGGCACTCAGGCTCGGGCCCTGCAACGAGAATGAGGGTGGCAGAGCAGACTGCCCTCTTCCAAGCTG... | pathogenic | 259,568 |
Is chromosome 16, position 89773283, gene FANCA (FA complementation group A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAAC... | GATCACTTGACCTCAGGACTTCTAGACCAGTCGAGGCAACACAGAGAAACCCCAACTGTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAAC... | pathogenic | 259,579 |
Is chromosome 16, position 89773340, gene FANCA (FA complementation group A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCG... | GTACAAAAAATGCAGAAATTAGCCGGGTGTGGTGATGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAAGAGGATCACTTGAGCCCAGGATGTCAAAGCTGTAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGTCTCCAAAATTAAATAAATAAATAAAATGTAAAAGGAGCTCTTCATACACAAACAGACTGTGGCAGCTGACCCTGGTACACCGCTGCCTGGCCCTGGAACATCTGATACGACACTAACTGAGCAAGTCAAACAGAAATTGAGAGAAGGCTCCATGCG... | pathogenic | 259,586 |
Clinical significance of chromosome 16, position 89775782, gene FANCA (FA complementation group A): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | TCACGGATAGGTGACCATTTAGTCCCCTGGTTCCTCAAACTTTTTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTCACCACGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAATCATCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCACCACCACATCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGATTTCACCACGTTGGCCAAGATGGTCTCGATCTCCTGACCTCATGATTTGCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACGGGCATGAG... | TCACGGATAGGTGACCATTTAGTCCCCTGGTTCCTCAAACTTTTTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTCACCACGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAATCATCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCACCACCACATCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGATTTCACCACGTTGGCCAAGATGGTCTCGATCTCCTGACCTCATGATTTGCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACGGGCATGAG... | pathogenic | 259,606 |
For chromosome 16, position 89775797, gene FANCA (FA complementation group A): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Fanconi_anemia_complementation_group_A'] | CATTTAGTCCCCTGGTTCCTCAAACTTTTTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTCACCACGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAATCATCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCACCACCACATCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGATTTCACCACGTTGGCCAAGATGGTCTCGATCTCCTGACCTCATGATTTGCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACGGGCATGAGCCACTGCGCCCAGCC... | CATTTAGTCCCCTGGTTCCTCAAACTTTTTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTCACCACGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAATCATCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCACCACCACATCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGATTTCACCACGTTGGCCAAGATGGTCTCGATCTCCTGACCTCATGATTTGCCCGCCTTGGCCTCTCAAAGTGCTGGGATTACGGGCATGAGCCACTGCGCCCAGCC... | pathogenic | 259,610 |
Mutation found at chromosome 16 position 89778770, gene FANCA (FA complementation group A): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TTGGTAGGCTGAGGTGGGAGAATGGCATGAACCCAGAAGGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTGCAGACTGGCTGACAAACCGAGACTCCGACTCAAAAAATAAATTAAAGAAAAAAAAATAAAACGCATTAGTTCATGCTAAAAATCCTTAGCAAATTAGTAAGAGGGAACTTTCTTAACATGATAAAGGGTAAGCCAGGTACAGTGGCTCATATTTGTAATCCCAGCACTTTGGGAAGTTGAAGCAGGAGGATTATTTGAGGCCAAGAGAGAGAGAAGCCTGGGCAACACAGCGAAAATCCGTG... | TTGGTAGGCTGAGGTGGGAGAATGGCATGAACCCAGAAGGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTGCAGACTGGCTGACAAACCGAGACTCCGACTCAAAAAATAAATTAAAGAAAAAAAAATAAAACGCATTAGTTCATGCTAAAAATCCTTAGCAAATTAGTAAGAGGGAACTTTCTTAACATGATAAAGGGTAAGCCAGGTACAGTGGCTCATATTTGTAATCCCAGCACTTTGGGAAGTTGAAGCAGGAGGATTATTTGAGGCCAAGAGAGAGAGAAGCCTGGGCAACACAGCGAAAATCCGTG... | benign | 259,618 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 89778814, gene FANCA (FA complementation group A). What disease(s) is it linked to if pathogenic? | pathogenic; ['Fanconi_anemia_complementation_group_A'] | GCTTGCAGTGAGCCGAGATTGCGCCACTGCACTGCAGACTGGCTGACAAACCGAGACTCCGACTCAAAAAATAAATTAAAGAAAAAAAAATAAAACGCATTAGTTCATGCTAAAAATCCTTAGCAAATTAGTAAGAGGGAACTTTCTTAACATGATAAAGGGTAAGCCAGGTACAGTGGCTCATATTTGTAATCCCAGCACTTTGGGAAGTTGAAGCAGGAGGATTATTTGAGGCCAAGAGAGAGAGAAGCCTGGGCAACACAGCGAAAATCCGTGTCCTCAAAGCATTTACAAAATGGCTGGGTGTGGTGGAGCGCGCC... | GCTTGCAGTGAGCCGAGATTGCGCCACTGCACTGCAGACTGGCTGACAAACCGAGACTCCGACTCAAAAAATAAATTAAAGAAAAAAAAATAAAACGCATTAGTTCATGCTAAAAATCCTTAGCAAATTAGTAAGAGGGAACTTTCTTAACATGATAAAGGGTAAGCCAGGTACAGTGGCTCATATTTGTAATCCCAGCACTTTGGGAAGTTGAAGCAGGAGGATTATTTGAGGCCAAGAGAGAGAGAAGCCTGGGCAACACAGCGAAAATCCGTGTCCTCAAAGCATTTACAAAATGGCTGGGTGTGGTGGAGCGCGCC... | pathogenic | 259,623 |
Clinical classification of chromosome 16, position 89778817, gene FANCA (FA complementation group A): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | TGCAGTGAGCCGAGATTGCGCCACTGCACTGCAGACTGGCTGACAAACCGAGACTCCGACTCAAAAAATAAATTAAAGAAAAAAAAATAAAACGCATTAGTTCATGCTAAAAATCCTTAGCAAATTAGTAAGAGGGAACTTTCTTAACATGATAAAGGGTAAGCCAGGTACAGTGGCTCATATTTGTAATCCCAGCACTTTGGGAAGTTGAAGCAGGAGGATTATTTGAGGCCAAGAGAGAGAGAAGCCTGGGCAACACAGCGAAAATCCGTGTCCTCAAAGCATTTACAAAATGGCTGGGTGTGGTGGAGCGCGCCTCT... | TGCAGTGAGCCGAGATTGCGCCACTGCACTGCAGACTGGCTGACAAACCGAGACTCCGACTCAAAAAATAAATTAAAGAAAAAAAAATAAAACGCATTAGTTCATGCTAAAAATCCTTAGCAAATTAGTAAGAGGGAACTTTCTTAACATGATAAAGGGTAAGCCAGGTACAGTGGCTCATATTTGTAATCCCAGCACTTTGGGAAGTTGAAGCAGGAGGATTATTTGAGGCCAAGAGAGAGAGAAGCCTGGGCAACACAGCGAAAATCCGTGTCCTCAAAGCATTTACAAAATGGCTGGGTGTGGTGGAGCGCGCCTCT... | pathogenic | 259,624 |
Variant at chromosome position 89778826, chromosome 16, gene FANCA (FA complementation group A): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CCGAGATTGCGCCACTGCACTGCAGACTGGCTGACAAACCGAGACTCCGACTCAAAAAATAAATTAAAGAAAAAAAAATAAAACGCATTAGTTCATGCTAAAAATCCTTAGCAAATTAGTAAGAGGGAACTTTCTTAACATGATAAAGGGTAAGCCAGGTACAGTGGCTCATATTTGTAATCCCAGCACTTTGGGAAGTTGAAGCAGGAGGATTATTTGAGGCCAAGAGAGAGAGAAGCCTGGGCAACACAGCGAAAATCCGTGTCCTCAAAGCATTTACAAAATGGCTGGGTGTGGTGGAGCGCGCCTCTAGACCCAGC... | CCGAGATTGCGCCACTGCACTGCAGACTGGCTGACAAACCGAGACTCCGACTCAAAAAATAAATTAAAGAAAAAAAAATAAAACGCATTAGTTCATGCTAAAAATCCTTAGCAAATTAGTAAGAGGGAACTTTCTTAACATGATAAAGGGTAAGCCAGGTACAGTGGCTCATATTTGTAATCCCAGCACTTTGGGAAGTTGAAGCAGGAGGATTATTTGAGGCCAAGAGAGAGAGAAGCCTGGGCAACACAGCGAAAATCCGTGTCCTCAAAGCATTTACAAAATGGCTGGGTGTGGTGGAGCGCGCCTCTAGACCCAGC... | pathogenic | 259,628 |
Benign or pathogenic: chromosome 16, position 89778887, gene FANCA (FA complementation group A) variant? Disease(s) if pathogenic? | benign | AATTAAAGAAAAAAAAATAAAACGCATTAGTTCATGCTAAAAATCCTTAGCAAATTAGTAAGAGGGAACTTTCTTAACATGATAAAGGGTAAGCCAGGTACAGTGGCTCATATTTGTAATCCCAGCACTTTGGGAAGTTGAAGCAGGAGGATTATTTGAGGCCAAGAGAGAGAGAAGCCTGGGCAACACAGCGAAAATCCGTGTCCTCAAAGCATTTACAAAATGGCTGGGTGTGGTGGAGCGCGCCTCTAGACCCAGCTACTTGGGAGGCAGAGGGGGAAGGATTGTTGAAACCCAGGAGGTCAAGGCTGGCCAGGTGT... | AATTAAAGAAAAAAAAATAAAACGCATTAGTTCATGCTAAAAATCCTTAGCAAATTAGTAAGAGGGAACTTTCTTAACATGATAAAGGGTAAGCCAGGTACAGTGGCTCATATTTGTAATCCCAGCACTTTGGGAAGTTGAAGCAGGAGGATTATTTGAGGCCAAGAGAGAGAGAAGCCTGGGCAACACAGCGAAAATCCGTGTCCTCAAAGCATTTACAAAATGGCTGGGTGTGGTGGAGCGCGCCTCTAGACCCAGCTACTTGGGAGGCAGAGGGGGAAGGATTGTTGAAACCCAGGAGGTCAAGGCTGGCCAGGTGT... | benign | 259,634 |
The mutation impacting FANCA (FA complementation group A) on chromosome 16 at position 89778979: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GCCAGGTACAGTGGCTCATATTTGTAATCCCAGCACTTTGGGAAGTTGAAGCAGGAGGATTATTTGAGGCCAAGAGAGAGAGAAGCCTGGGCAACACAGCGAAAATCCGTGTCCTCAAAGCATTTACAAAATGGCTGGGTGTGGTGGAGCGCGCCTCTAGACCCAGCTACTTGGGAGGCAGAGGGGGAAGGATTGTTGAAACCCAGGAGGTCAAGGCTGGCCAGGTGTGGTGGATCGCGCCTCTAGACCCTGCTACTTGGGAGGCGGAGGGGGAAGGATTGTTGAAGCCCAGGAGATCAAGGCTGGCTGGGTGTGGTGGA... | GCCAGGTACAGTGGCTCATATTTGTAATCCCAGCACTTTGGGAAGTTGAAGCAGGAGGATTATTTGAGGCCAAGAGAGAGAGAAGCCTGGGCAACACAGCGAAAATCCGTGTCCTCAAAGCATTTACAAAATGGCTGGGTGTGGTGGAGCGCGCCTCTAGACCCAGCTACTTGGGAGGCAGAGGGGGAAGGATTGTTGAAACCCAGGAGGTCAAGGCTGGCCAGGTGTGGTGGATCGCGCCTCTAGACCCTGCTACTTGGGAGGCGGAGGGGGAAGGATTGTTGAAGCCCAGGAGATCAAGGCTGGCTGGGTGTGGTGGA... | pathogenic | 259,645 |
Is the chromosome 16, position 89782869 variant in FANCA (FA complementation group A) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | TCAGGAGGTCAAGGTGAGAAGATCGTTTCAACCTAGGAGTTTGAGGCTGCACTGAACTGTGATCACGGTACTATACTTCAGCCTGGTCAACAGAACAACATCCCACCTCAAAAAAAAAAAAAAAGTAATTTATAAACAGCAATAAATTATAAATGGAAAATTATATTAAATATTTTCACCTAACACTTTAATGTCACCTATAAGTGTTCTTCAGTAACTCGTAACTTTAAAATAAAAAGGTCTTAAAAAGTAAAGAATGGAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGACCGAGGCAGACG... | TCAGGAGGTCAAGGTGAGAAGATCGTTTCAACCTAGGAGTTTGAGGCTGCACTGAACTGTGATCACGGTACTATACTTCAGCCTGGTCAACAGAACAACATCCCACCTCAAAAAAAAAAAAAAAGTAATTTATAAACAGCAATAAATTATAAATGGAAAATTATATTAAATATTTTCACCTAACACTTTAATGTCACCTATAAGTGTTCTTCAGTAACTCGTAACTTTAAAATAAAAAGGTCTTAAAAAGTAAAGAATGGAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGACCGAGGCAGACG... | pathogenic | 259,662 |
Is the chromosome 16, position 89783080 variant in FANCA (FA complementation group A) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CAGTAACTCGTAACTTTAAAATAAAAAGGTCTTAAAAAGTAAAGAATGGAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGACCGAGGCAGACGGATCACGAGGTCAGGAGACCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAACACACAAAATTAGCCTGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGAAGGCGGAGCTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGGCAATAGAACG... | CAGTAACTCGTAACTTTAAAATAAAAAGGTCTTAAAAAGTAAAGAATGGAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGACCGAGGCAGACGGATCACGAGGTCAGGAGACCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAACACACAAAATTAGCCTGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGAAGGCGGAGCTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGGCAATAGAACG... | pathogenic | 259,678 |
For chromosome 16, position 89784864, gene FANCA (FA complementation group A): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GGGCGTGACTGGCTGAGACCCTGCAGGGCTCAAGCAACATTACCTCAGTAATGTCCCCAGCTGATGACAAATCCTCGTAGAGTCCCATGTTTTCTATAGAAACCTTCAGGGAAGACACAGAATGAGAACAAGAAAACAAAGCAGTTTCTGCTGGGACAGGTGTGAGGAGTGGGCATGGAGGGACAGCTTGCCTTGAGGTCGGCCAGCCGTGTCTTGGCCAATGAGATGTAGTCTGTGAGGAGGGAGCGGTACTTGCCGGGAACCAGGGGTGGGTGGAGAATGTGCACCTGAGGATAGATAGCAGAGCGCAGCACCGTTAG... | GGGCGTGACTGGCTGAGACCCTGCAGGGCTCAAGCAACATTACCTCAGTAATGTCCCCAGCTGATGACAAATCCTCGTAGAGTCCCATGTTTTCTATAGAAACCTTCAGGGAAGACACAGAATGAGAACAAGAAAACAAAGCAGTTTCTGCTGGGACAGGTGTGAGGAGTGGGCATGGAGGGACAGCTTGCCTTGAGGTCGGCCAGCCGTGTCTTGGCCAATGAGATGTAGTCTGTGAGGAGGGAGCGGTACTTGCCGGGAACCAGGGGTGGGTGGAGAATGTGCACCTGAGGATAGATAGCAGAGCGCAGCACCGTTAG... | pathogenic | 259,693 |
Clinically, how would you classify the variant at chromosome 16, position 89791467, gene FANCA (FA complementation group A): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GGCAGGAAAACTCAATACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGCGTAGTAATGCAATCCCAGCTCAATGCAGCCTCAACCTCCTCGGCTTAAGTAATCATCCTGCCTCAGCCGGTAAGTAGCCAGGACCACAGGTGCTTACCACCACACCCAGCTAATTGTTACATTCTGTAGAGACCGGGGTCTCACTGTGCTGCCCAGGCTGATCTTGAACCCCTGGGCTCAAGCAATCCTCCTGCCTAGGCCTCCCAAACTGCTGAGATTACAGGCATGAGCCACTGTACCTGGCC... | GGCAGGAAAACTCAATACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGCGTAGTAATGCAATCCCAGCTCAATGCAGCCTCAACCTCCTCGGCTTAAGTAATCATCCTGCCTCAGCCGGTAAGTAGCCAGGACCACAGGTGCTTACCACCACACCCAGCTAATTGTTACATTCTGTAGAGACCGGGGTCTCACTGTGCTGCCCAGGCTGATCTTGAACCCCTGGGCTCAAGCAATCCTCCTGCCTAGGCCTCCCAAACTGCTGAGATTACAGGCATGAGCCACTGTACCTGGCC... | pathogenic | 259,728 |
Does the variant impacting FANCA (FA complementation group A) on chromosome 16, position 89791469, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CAGGAAAACTCAATACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGCGTAGTAATGCAATCCCAGCTCAATGCAGCCTCAACCTCCTCGGCTTAAGTAATCATCCTGCCTCAGCCGGTAAGTAGCCAGGACCACAGGTGCTTACCACCACACCCAGCTAATTGTTACATTCTGTAGAGACCGGGGTCTCACTGTGCTGCCCAGGCTGATCTTGAACCCCTGGGCTCAAGCAATCCTCCTGCCTAGGCCTCCCAAACTGCTGAGATTACAGGCATGAGCCACTGTACCTGGCCCG... | CAGGAAAACTCAATACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGCGTAGTAATGCAATCCCAGCTCAATGCAGCCTCAACCTCCTCGGCTTAAGTAATCATCCTGCCTCAGCCGGTAAGTAGCCAGGACCACAGGTGCTTACCACCACACCCAGCTAATTGTTACATTCTGTAGAGACCGGGGTCTCACTGTGCTGCCCAGGCTGATCTTGAACCCCTGGGCTCAAGCAATCCTCCTGCCTAGGCCTCCCAAACTGCTGAGATTACAGGCATGAGCCACTGTACCTGGCCCG... | pathogenic | 259,730 |
Gene FANCA (FA complementation group A) variant at chromosome position 89791474 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | AAACTCAATACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGCGTAGTAATGCAATCCCAGCTCAATGCAGCCTCAACCTCCTCGGCTTAAGTAATCATCCTGCCTCAGCCGGTAAGTAGCCAGGACCACAGGTGCTTACCACCACACCCAGCTAATTGTTACATTCTGTAGAGACCGGGGTCTCACTGTGCTGCCCAGGCTGATCTTGAACCCCTGGGCTCAAGCAATCCTCCTGCCTAGGCCTCCCAAACTGCTGAGATTACAGGCATGAGCCACTGTACCTGGCCCGAACCC... | AAACTCAATACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGCGTAGTAATGCAATCCCAGCTCAATGCAGCCTCAACCTCCTCGGCTTAAGTAATCATCCTGCCTCAGCCGGTAAGTAGCCAGGACCACAGGTGCTTACCACCACACCCAGCTAATTGTTACATTCTGTAGAGACCGGGGTCTCACTGTGCTGCCCAGGCTGATCTTGAACCCCTGGGCTCAAGCAATCCTCCTGCCTAGGCCTCCCAAACTGCTGAGATTACAGGCATGAGCCACTGTACCTGGCCCGAACCC... | pathogenic | 259,733 |
Chromosome 16, position 89791949, gene FANCA (FA complementation group A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | TCTCAGGAGCTCAGACTCAGTAGTCTCAAATGGGCCCTGGATCTTTATTTCCAAAGCCCCCTCCAGGCGAGTCTAATGCCCACTTAGGTTCAGGAACAGCTGCATAAACTTCTGTCAGAGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATG... | TCTCAGGAGCTCAGACTCAGTAGTCTCAAATGGGCCCTGGATCTTTATTTCCAAAGCCCCCTCCAGGCGAGTCTAATGCCCACTTAGGTTCAGGAACAGCTGCATAAACTTCTGTCAGAGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATG... | pathogenic | 259,750 |
Regarding the variant at chromosome 16 and position 89791957, affecting gene FANCA (FA complementation group A): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GCTCAGACTCAGTAGTCTCAAATGGGCCCTGGATCTTTATTTCCAAAGCCCCCTCCAGGCGAGTCTAATGCCCACTTAGGTTCAGGAACAGCTGCATAAACTTCTGTCAGAGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATGATGAAACC... | GCTCAGACTCAGTAGTCTCAAATGGGCCCTGGATCTTTATTTCCAAAGCCCCCTCCAGGCGAGTCTAATGCCCACTTAGGTTCAGGAACAGCTGCATAAACTTCTGTCAGAGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATGATGAAACC... | pathogenic | 259,751 |
Does the chromosome 16 mutation at position 89792033 within gene FANCA (FA complementation group A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['FANCA-related_disorder', 'Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | TAGGTTCAGGAACAGCTGCATAAACTTCTGTCAGAGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATGATGAAACCCTGTCTCTACTAAAAATTAGCCAGGTGTGGTGGCGAACGCCTGTAACCCCAGCTACTCGGGAGGCGGAGGCAGGAG... | TAGGTTCAGGAACAGCTGCATAAACTTCTGTCAGAGAGCACACTGTGTGTGTTCCAAAGAAAAAGGAAGAATATGTGATACGGCTGAAGAAATGAAGTACTTGTTTCAGGACTTACGTGAAAATTAGAGACGCAAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGGAGGCGGACCACTTAAGGTCAGGATTTTGAGACCAGCCTGACCAACATGATGAAACCCTGTCTCTACTAAAAATTAGCCAGGTGTGGTGGCGAACGCCTGTAACCCCAGCTACTCGGGAGGCGGAGGCAGGAG... | pathogenic | 259,763 |
Is the genetic mutation found on chromosome 16 at position 89792478, within the gene FANCA (FA complementation group A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | TAAATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAA... | TAAATAAATAAAAAGGAAAGGCCAGGTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAA... | pathogenic | 259,773 |
For chromosome 16, position 89792518, gene FANCA (FA complementation group A): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAGGGAAAATAAGAGACATTGTATACTCTGCAAAAAGCA... | CCTGTAATCCCAGCACTTTGGGAGGACAAGACGGGCGGATCATGAGGTCAGGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAACTGGGTATGGTAGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAAACGGGGCAGCGGAGTTTGCAGTGAGCCGAGAAGGTGAGCTTTCTGTACCACTGCACTCTAGCCTGGGCGACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAGGGAAAATAAGAGACATTGTATACTCTGCAAAAAGCA... | pathogenic | 259,781 |
The chromosome 16, position 89795920 genetic variant in gene FANCA (FA complementation group A): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | TCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTCTTTTGGCCAGGCTGGTCTCGAACTTCTGACCTCGTGACCTGCCCGTCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCTCCTGGCCAAAAAGTTGTGTTTCAAAGCTTCAGTGTGAAGACAGATCTTAATATGTACTTTTTCAGTTATTAAAGTTCACCATCTCCCTGTTTGTTGCCTATTTGCTATATCATCAATTCTGTTTCTCAGGCCCGGTTACTTACTTGTAA... | TCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTCTTTTGGCCAGGCTGGTCTCGAACTTCTGACCTCGTGACCTGCCCGTCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCTCCTGGCCAAAAAGTTGTGTTTCAAAGCTTCAGTGTGAAGACAGATCTTAATATGTACTTTTTCAGTTATTAAAGTTCACCATCTCCCTGTTTGTTGCCTATTTGCTATATCATCAATTCTGTTTCTCAGGCCCGGTTACTTACTTGTAA... | pathogenic | 259,797 |
Is chromosome 16, position 89795921, gene FANCA (FA complementation group A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTCTTTTGGCCAGGCTGGTCTCGAACTTCTGACCTCGTGACCTGCCCGTCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCTCCTGGCCAAAAAGTTGTGTTTCAAAGCTTCAGTGTGAAGACAGATCTTAATATGTACTTTTTCAGTTATTAAAGTTCACCATCTCCCTGTTTGTTGCCTATTTGCTATATCATCAATTCTGTTTCTCAGGCCCGGTTACTTACTTGTAAT... | CCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTCTTTTGGCCAGGCTGGTCTCGAACTTCTGACCTCGTGACCTGCCCGTCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCTCCTGGCCAAAAAGTTGTGTTTCAAAGCTTCAGTGTGAAGACAGATCTTAATATGTACTTTTTCAGTTATTAAAGTTCACCATCTCCCTGTTTGTTGCCTATTTGCTATATCATCAATTCTGTTTCTCAGGCCCGGTTACTTACTTGTAAT... | pathogenic | 259,798 |
Located at chromosome 16 position 89795994, the variant affecting gene FANCA (FA complementation group A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | TTCACTCTTTTGGCCAGGCTGGTCTCGAACTTCTGACCTCGTGACCTGCCCGTCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCTCCTGGCCAAAAAGTTGTGTTTCAAAGCTTCAGTGTGAAGACAGATCTTAATATGTACTTTTTCAGTTATTAAAGTTCACCATCTCCCTGTTTGTTGCCTATTTGCTATATCATCAATTCTGTTTCTCAGGCCCGGTTACTTACTTGTAATGCTTTGTCATATTCACAATAAATATTTTCCAATGTACCAACTGCATTTCAATTTTCCTGCTTTTAAACTGTCA... | TTCACTCTTTTGGCCAGGCTGGTCTCGAACTTCTGACCTCGTGACCTGCCCGTCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTGCTCCTGGCCAAAAAGTTGTGTTTCAAAGCTTCAGTGTGAAGACAGATCTTAATATGTACTTTTTCAGTTATTAAAGTTCACCATCTCCCTGTTTGTTGCCTATTTGCTATATCATCAATTCTGTTTCTCAGGCCCGGTTACTTACTTGTAATGCTTTGTCATATTCACAATAAATATTTTCCAATGTACCAACTGCATTTCAATTTTCCTGCTTTTAAACTGTCA... | pathogenic | 259,807 |
Variant in FANCA (FA complementation group A), chromosome 16, position 89799164—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CACCACTGCACTCCAGCATGGGCGACAGAGCGAAATTCTGTCTCAAAAAAAGAAAAATAAAAAAAATTAGCCAGGCATGGTGGCACACACCTATAGTCCCAGCTATGTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCATAGGTTGTAGTAAACCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAATAAAGAAAGAAAGAAAGAAAATCAAGGGTCCTGGCGGTTCAGTGAACTGCCCCAGGGTCACACACCCAACGAGGCCACGTCGGCTCTGTGCAAACTCA... | CACCACTGCACTCCAGCATGGGCGACAGAGCGAAATTCTGTCTCAAAAAAAGAAAAATAAAAAAAATTAGCCAGGCATGGTGGCACACACCTATAGTCCCAGCTATGTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCATAGGTTGTAGTAAACCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAATAAAGAAAGAAAGAAAGAAAATCAAGGGTCCTGGCGGTTCAGTGAACTGCCCCAGGGTCACACACCCAACGAGGCCACGTCGGCTCTGTGCAAACTCA... | pathogenic | 259,816 |
Gene mutation in FANCA (FA complementation group A) at chromosome 16, position 89799192—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | AGCGAAATTCTGTCTCAAAAAAAGAAAAATAAAAAAAATTAGCCAGGCATGGTGGCACACACCTATAGTCCCAGCTATGTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCATAGGTTGTAGTAAACCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAATAAAGAAAGAAAGAAAGAAAATCAAGGGTCCTGGCGGTTCAGTGAACTGCCCCAGGGTCACACACCCAACGAGGCCACGTCGGCTCTGTGCAAACTCAAGACACTCACACAACAGGGTGTGGGACA... | AGCGAAATTCTGTCTCAAAAAAAGAAAAATAAAAAAAATTAGCCAGGCATGGTGGCACACACCTATAGTCCCAGCTATGTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCATAGGTTGTAGTAAACCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAAATAAAGAAAGAAAGAAAGAAAATCAAGGGTCCTGGCGGTTCAGTGAACTGCCCCAGGGTCACACACCCAACGAGGCCACGTCGGCTCTGTGCAAACTCAAGACACTCACACAACAGGGTGTGGGACA... | pathogenic | 259,820 |
Mutation found at chromosome 16 position 89803359, gene FANCA (FA complementation group A): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TCCAGCCCGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGCCAATGTCACTAATCATCAGGGAAATACAAGTCAAAGCCACAATGAGCTATTATTTCACTCCAGTTAGAATTATCATTATCAAGAAAACAAAAAATAACAAATGCTGGTGAGAATGCAAACAGAACTCTTATATGCTATCAGTGAGAATGTAAATTAATACAGCCATTATGGAAAATAGTATGGAGATTTCTAAATAGTTGGGTAGTTCTAAAAACAGAACTACCAGCCCAGAGGGTCTCACTTTCACCAGGCATGGTGGATCACATC... | TCCAGCCCGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGCCAATGTCACTAATCATCAGGGAAATACAAGTCAAAGCCACAATGAGCTATTATTTCACTCCAGTTAGAATTATCATTATCAAGAAAACAAAAAATAACAAATGCTGGTGAGAATGCAAACAGAACTCTTATATGCTATCAGTGAGAATGTAAATTAATACAGCCATTATGGAAAATAGTATGGAGATTTCTAAATAGTTGGGTAGTTCTAAAAACAGAACTACCAGCCCAGAGGGTCTCACTTTCACCAGGCATGGTGGATCACATC... | benign | 259,842 |
Variant chromosome 16, position 89803481, gene FANCA (FA complementation group A): benign or pathogenic? Disease(s)? | benign | TTATCATTATCAAGAAAACAAAAAATAACAAATGCTGGTGAGAATGCAAACAGAACTCTTATATGCTATCAGTGAGAATGTAAATTAATACAGCCATTATGGAAAATAGTATGGAGATTTCTAAATAGTTGGGTAGTTCTAAAAACAGAACTACCAGCCCAGAGGGTCTCACTTTCACCAGGCATGGTGGATCACATCTGTAATCCCAGCACTTCAGGAGGCCAAGGCAGGCAGATCATGAGGTCAAGAGATCGAGACCATCCTAGCCAACAGAGTGAAACCTCACCTCTACTAAAAATACAAAAATTAGCTGGGCATGG... | TTATCATTATCAAGAAAACAAAAAATAACAAATGCTGGTGAGAATGCAAACAGAACTCTTATATGCTATCAGTGAGAATGTAAATTAATACAGCCATTATGGAAAATAGTATGGAGATTTCTAAATAGTTGGGTAGTTCTAAAAACAGAACTACCAGCCCAGAGGGTCTCACTTTCACCAGGCATGGTGGATCACATCTGTAATCCCAGCACTTCAGGAGGCCAAGGCAGGCAGATCATGAGGTCAAGAGATCGAGACCATCCTAGCCAACAGAGTGAAACCTCACCTCTACTAAAAATACAAAAATTAGCTGGGCATGG... | benign | 259,843 |
Clinical classification of chromosome 16, position 89808386, gene FANCA (FA complementation group A): benign or pathogenic? Disease(s) if pathogenic? | benign | TATATCATTCTTTTTTTTTTTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATGGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGAGGCCTTCTGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCATATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAG... | TATATCATTCTTTTTTTTTTTTTTTTTTTTAATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATGGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGAGGCCTTCTGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCATATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAG... | benign | 259,881 |
Does the variant impacting FANCA (FA complementation group A) on chromosome 16, position 89810785, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Fanconi_anemia'] | GGACAAAGGTCAGGCTTCAGTGTGCCCTGTGCATGTCCCTTGTCTTTCTCACTCAACCCTCTCCCATTTGATAAAACAGGATCTGCTTTAGCCACTCACTGTGAACACTGTGCCTGTCACACTGCCCTGATCTCCCTGCAGCCTCCCCTTCTCATCCCCCTAACTCACACTCTATTTTTTTTTTTTTGAGACAGAGTCGCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGGTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGC... | GGACAAAGGTCAGGCTTCAGTGTGCCCTGTGCATGTCCCTTGTCTTTCTCACTCAACCCTCTCCCATTTGATAAAACAGGATCTGCTTTAGCCACTCACTGTGAACACTGTGCCTGTCACACTGCCCTGATCTCCCTGCAGCCTCCCCTTCTCATCCCCCTAACTCACACTCTATTTTTTTTTTTTTGAGACAGAGTCGCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGGTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGC... | pathogenic | 259,889 |
Variant on chromosome 16, at position 89810937, affecting FANCA (FA complementation group A): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CATCCCCCTAACTCACACTCTATTTTTTTTTTTTTGAGACAGAGTCGCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGGTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGGGCCCGGCCCCT... | CATCCCCCTAACTCACACTCTATTTTTTTTTTTTTGAGACAGAGTCGCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGGTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGGGCCCGGCCCCT... | pathogenic | 259,900 |
Does the chromosome 16 mutation at position 89810953 within gene FANCA (FA complementation group A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | ACTCTATTTTTTTTTTTTTGAGACAGAGTCGCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGGTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGGGCCCGGCCCCTAACTCGCACTCTTCAC... | ACTCTATTTTTTTTTTTTTGAGACAGAGTCGCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGGTCACTGTAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGGGCCCGGCCCCTAACTCGCACTCTTCAC... | pathogenic | 259,903 |
Mutation found at chromosome 16 position 89811048, gene FANCA (FA complementation group A): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGGGCCCGGCCCCTAACTCGCACTCTTCACAGTCCGTGCAGGAAGGCTTTCCTAACTCTCCAATCTGATATGCATGTCCAACATCTTCTTCGCAAATCTGTGAGCACATGAATCATCGCACTTCT... | GGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGGCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGGGCCCGGCCCCTAACTCGCACTCTTCACAGTCCGTGCAGGAAGGCTTTCCTAACTCTCCAATCTGATATGCATGTCCAACATCTTCTTCGCAAATCTGTGAGCACATGAATCATCGCACTTCT... | pathogenic | 259,920 |
Does the genetic variant at chromosome 16, position 89814561, impacting gene FANCA (FA complementation group A), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GTGCATGCCTGTAATACCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTTAACTAGGGAGGCAGAGGTTGCGGTGAGTCGAGATCACACCATTGCACTCCAGCCTGGGTAACAAGAGCAATACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAACTGTTAACTGCAGTACGAACCTGTTATTGTAATGTACTGGCTCTAAAAACACATTATCAATACATAAGTAAAAACATTTACAGGCTGGTTGCGGTGGCTCATGCCTGTAATCCCAACACTGCAGGAGGCCGAGGCGGGTCGATCACGAGGTCAGGAGTTTGA... | GTGCATGCCTGTAATACCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTTAACTAGGGAGGCAGAGGTTGCGGTGAGTCGAGATCACACCATTGCACTCCAGCCTGGGTAACAAGAGCAATACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAACTGTTAACTGCAGTACGAACCTGTTATTGTAATGTACTGGCTCTAAAAACACATTATCAATACATAAGTAAAAACATTTACAGGCTGGTTGCGGTGGCTCATGCCTGTAATCCCAACACTGCAGGAGGCCGAGGCGGGTCGATCACGAGGTCAGGAGTTTGA... | pathogenic | 259,934 |
Is the genetic variant on chromosome 16, position 89814563, gene FANCA (FA complementation group A), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GCATGCCTGTAATACCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTTAACTAGGGAGGCAGAGGTTGCGGTGAGTCGAGATCACACCATTGCACTCCAGCCTGGGTAACAAGAGCAATACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAACTGTTAACTGCAGTACGAACCTGTTATTGTAATGTACTGGCTCTAAAAACACATTATCAATACATAAGTAAAAACATTTACAGGCTGGTTGCGGTGGCTCATGCCTGTAATCCCAACACTGCAGGAGGCCGAGGCGGGTCGATCACGAGGTCAGGAGTTTGAGA... | GCATGCCTGTAATACCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTTAACTAGGGAGGCAGAGGTTGCGGTGAGTCGAGATCACACCATTGCACTCCAGCCTGGGTAACAAGAGCAATACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAACTGTTAACTGCAGTACGAACCTGTTATTGTAATGTACTGGCTCTAAAAACACATTATCAATACATAAGTAAAAACATTTACAGGCTGGTTGCGGTGGCTCATGCCTGTAATCCCAACACTGCAGGAGGCCGAGGCGGGTCGATCACGAGGTCAGGAGTTTGAGA... | pathogenic | 259,935 |
Is the variant located on chromosome 16 at position 89814564, gene FANCA (FA complementation group A), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CATGCCTGTAATACCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTTAACTAGGGAGGCAGAGGTTGCGGTGAGTCGAGATCACACCATTGCACTCCAGCCTGGGTAACAAGAGCAATACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAACTGTTAACTGCAGTACGAACCTGTTATTGTAATGTACTGGCTCTAAAAACACATTATCAATACATAAGTAAAAACATTTACAGGCTGGTTGCGGTGGCTCATGCCTGTAATCCCAACACTGCAGGAGGCCGAGGCGGGTCGATCACGAGGTCAGGAGTTTGAGAC... | CATGCCTGTAATACCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTTAACTAGGGAGGCAGAGGTTGCGGTGAGTCGAGATCACACCATTGCACTCCAGCCTGGGTAACAAGAGCAATACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAACTGTTAACTGCAGTACGAACCTGTTATTGTAATGTACTGGCTCTAAAAACACATTATCAATACATAAGTAAAAACATTTACAGGCTGGTTGCGGTGGCTCATGCCTGTAATCCCAACACTGCAGGAGGCCGAGGCGGGTCGATCACGAGGTCAGGAGTTTGAGAC... | pathogenic | 259,936 |
Assess the variant on chromosome 16, position 89814580, impacting FANCA (FA complementation group A): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | GCTACTCAGGAGGCTGAGGCAGGAGAATCACTTTAACTAGGGAGGCAGAGGTTGCGGTGAGTCGAGATCACACCATTGCACTCCAGCCTGGGTAACAAGAGCAATACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAACTGTTAACTGCAGTACGAACCTGTTATTGTAATGTACTGGCTCTAAAAACACATTATCAATACATAAGTAAAAACATTTACAGGCTGGTTGCGGTGGCTCATGCCTGTAATCCCAACACTGCAGGAGGCCGAGGCGGGTCGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATG... | GCTACTCAGGAGGCTGAGGCAGGAGAATCACTTTAACTAGGGAGGCAGAGGTTGCGGTGAGTCGAGATCACACCATTGCACTCCAGCCTGGGTAACAAGAGCAATACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAACTGTTAACTGCAGTACGAACCTGTTATTGTAATGTACTGGCTCTAAAAACACATTATCAATACATAAGTAAAAACATTTACAGGCTGGTTGCGGTGGCTCATGCCTGTAATCCCAACACTGCAGGAGGCCGAGGCGGGTCGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATG... | pathogenic | 259,940 |
Is the genetic variant on chromosome 16, position 89814595, gene FANCA (FA complementation group A), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Fanconi_anemia_complementation_group_A'] | GAGGCAGGAGAATCACTTTAACTAGGGAGGCAGAGGTTGCGGTGAGTCGAGATCACACCATTGCACTCCAGCCTGGGTAACAAGAGCAATACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAACTGTTAACTGCAGTACGAACCTGTTATTGTAATGTACTGGCTCTAAAAACACATTATCAATACATAAGTAAAAACATTTACAGGCTGGTTGCGGTGGCTCATGCCTGTAATCCCAACACTGCAGGAGGCCGAGGCGGGTCGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATGGTGAAACCCCGCCTC... | GAGGCAGGAGAATCACTTTAACTAGGGAGGCAGAGGTTGCGGTGAGTCGAGATCACACCATTGCACTCCAGCCTGGGTAACAAGAGCAATACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAACTGTTAACTGCAGTACGAACCTGTTATTGTAATGTACTGGCTCTAAAAACACATTATCAATACATAAGTAAAAACATTTACAGGCTGGTTGCGGTGGCTCATGCCTGTAATCCCAACACTGCAGGAGGCCGAGGCGGGTCGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATGGTGAAACCCCGCCTC... | pathogenic | 259,941 |
Mutation found at chromosome 16 position 89815882, gene FANCA (FA complementation group A): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Fanconi_anemia_complementation_group_A'] | CCGTGTGCACGTGCGTGCATGTACTAACTATATCTTTAGCAGAAAAAAACAAACTCAAAAATTAATGAATTAAAGGTTTATCTGTGTGGCTGAGCTTGGTTCCTTGGAATGATAATATGCAATTTGTGAAATTCAAATACAATCATGGCAGTGAAAATCTGTATCATTTGCCAATGACATTCAGTGACCAGTTGTCAAGGGAGCGCTATTACTGAAGGTTATTTTAACAGAAACAAGTCATCACATAAGGACGTGAAGGATCAGAAAATAACTTACTGTTGTTGACCCAGAACTTACCCTATCTCCCACTCTCAAACTGG... | CCGTGTGCACGTGCGTGCATGTACTAACTATATCTTTAGCAGAAAAAAACAAACTCAAAAATTAATGAATTAAAGGTTTATCTGTGTGGCTGAGCTTGGTTCCTTGGAATGATAATATGCAATTTGTGAAATTCAAATACAATCATGGCAGTGAAAATCTGTATCATTTGCCAATGACATTCAGTGACCAGTTGTCAAGGGAGCGCTATTACTGAAGGTTATTTTAACAGAAACAAGTCATCACATAAGGACGTGAAGGATCAGAAAATAACTTACTGTTGTTGACCCAGAACTTACCCTATCTCCCACTCTCAAACTGG... | pathogenic | 259,951 |
Is chromosome 16, position 89815883, gene FANCA (FA complementation group A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | CGTGTGCACGTGCGTGCATGTACTAACTATATCTTTAGCAGAAAAAAACAAACTCAAAAATTAATGAATTAAAGGTTTATCTGTGTGGCTGAGCTTGGTTCCTTGGAATGATAATATGCAATTTGTGAAATTCAAATACAATCATGGCAGTGAAAATCTGTATCATTTGCCAATGACATTCAGTGACCAGTTGTCAAGGGAGCGCTATTACTGAAGGTTATTTTAACAGAAACAAGTCATCACATAAGGACGTGAAGGATCAGAAAATAACTTACTGTTGTTGACCCAGAACTTACCCTATCTCCCACTCTCAAACTGGG... | CGTGTGCACGTGCGTGCATGTACTAACTATATCTTTAGCAGAAAAAAACAAACTCAAAAATTAATGAATTAAAGGTTTATCTGTGTGGCTGAGCTTGGTTCCTTGGAATGATAATATGCAATTTGTGAAATTCAAATACAATCATGGCAGTGAAAATCTGTATCATTTGCCAATGACATTCAGTGACCAGTTGTCAAGGGAGCGCTATTACTGAAGGTTATTTTAACAGAAACAAGTCATCACATAAGGACGTGAAGGATCAGAAAATAACTTACTGTTGTTGACCCAGAACTTACCCTATCTCCCACTCTCAAACTGGG... | pathogenic | 259,952 |
Variant in FANCA (FA complementation group A), chromosome 16, position 89815968—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | TGGCTGAGCTTGGTTCCTTGGAATGATAATATGCAATTTGTGAAATTCAAATACAATCATGGCAGTGAAAATCTGTATCATTTGCCAATGACATTCAGTGACCAGTTGTCAAGGGAGCGCTATTACTGAAGGTTATTTTAACAGAAACAAGTCATCACATAAGGACGTGAAGGATCAGAAAATAACTTACTGTTGTTGACCCAGAACTTACCCTATCTCCCACTCTCAAACTGGGGGGAGAAGGAGGTACCTAGAAAATTGTTCTCCCGTCTGCTCTCCTGGGCACACCACAGCCTGTCTCACTACTTCCATGAGCAAGG... | TGGCTGAGCTTGGTTCCTTGGAATGATAATATGCAATTTGTGAAATTCAAATACAATCATGGCAGTGAAAATCTGTATCATTTGCCAATGACATTCAGTGACCAGTTGTCAAGGGAGCGCTATTACTGAAGGTTATTTTAACAGAAACAAGTCATCACATAAGGACGTGAAGGATCAGAAAATAACTTACTGTTGTTGACCCAGAACTTACCCTATCTCCCACTCTCAAACTGGGGGGAGAAGGAGGTACCTAGAAAATTGTTCTCCCGTCTGCTCTCCTGGGCACACCACAGCCTGTCTCACTACTTCCATGAGCAAGG... | pathogenic | 259,966 |
Variant in gene FANCA, located at chromosome 16 position 89816565: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_A'] | TACCTATAAATGAACTAGAATGATTAGCATAGGCCTCAGAACTGTCACAGTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGG... | TACCTATAAATGAACTAGAATGATTAGCATAGGCCTCAGAACTGTCACAGTCAATCACTTTGCTGAGAGACAATTTTTTACACAGTGGACCTTCTACCTAGAATCCAAAACACAACAAACTCCATTTAAAAAATTCAAGCTCCAGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGATGGGCAGATCACGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGAGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGG... | pathogenic | 259,980 |
Is chromosome 16, position 89920097, gene MC1R (melanocortin 1 receptor) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['SKIN/HAIR/EYE_PIGMENTATION,_VARIATION_IN,_2'] | TCTGCCTTTGATGTGGCTGTTGGTGCAGGGCCTGTGGTGCCTTCCGCAGCGGAAATGGCGCGCCGCCCGGGGAGGGCGGGAGCAGCGTCCCGGGTGCCCCTGTGAGGATGAGCGACGAGATGACTGGAGGGTCCCTGAAGACCTCACTAGGGTGCCCCCAGCCGGTCCGCTCCCAGGAAGCGACACCCCCACAGCCCCAGGGCTGCAGCTGAGGGGGTCGCCACTCTGGCTGGGCGAGGCTGGGCCCTTGGGGGCAGGCGCCAGAGTGGCCTCAGGCTCTACAAGATGCCTGAAAACACCAACCTCTCCAGGGCTCACTA... | TCTGCCTTTGATGTGGCTGTTGGTGCAGGGCCTGTGGTGCCTTCCGCAGCGGAAATGGCGCGCCGCCCGGGGAGGGCGGGAGCAGCGTCCCGGGTGCCCCTGTGAGGATGAGCGACGAGATGACTGGAGGGTCCCTGAAGACCTCACTAGGGTGCCCCCAGCCGGTCCGCTCCCAGGAAGCGACACCCCCACAGCCCCAGGGCTGCAGCTGAGGGGGTCGCCACTCTGGCTGGGCGAGGCTGGGCCCTTGGGGGCAGGCGCCAGAGTGGCCTCAGGCTCTACAAGATGCCTGAAAACACCAACCTCTCCAGGGCTCACTA... | pathogenic | 260,099 |
Does the variant on chromosome 16 at location 89932551 affecting gene TUBB3 (tubulin beta 3 class III) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AACCTCCGTCTCCTGGGTTCAAGCAATTCTTCTGCCTCAGCTTCCGGAGTAGCTGGAACGTGTGAGCCACCACCCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGCTGGTCTCGAACTCCTGACTTCCGGTGATCTGCCCACCTCAGCCTCCCAAATTGTTGGTATTACAGGCGTGAGCCACCGCACCTGGCCTCTATTTATTTATTTATTTTGAGATGGGGTCTTGATATGAATTCCTAGACTCATGCTTCTCATGCTTGCTACCACCCAGTCCTGCCTCCTGCACAGCAGTTTCCACTAAAGTCACCCCTTTACG... | AACCTCCGTCTCCTGGGTTCAAGCAATTCTTCTGCCTCAGCTTCCGGAGTAGCTGGAACGTGTGAGCCACCACCCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGCTGGTCTCGAACTCCTGACTTCCGGTGATCTGCCCACCTCAGCCTCCCAAATTGTTGGTATTACAGGCGTGAGCCACCGCACCTGGCCTCTATTTATTTATTTATTTTGAGATGGGGTCTTGATATGAATTCCTAGACTCATGCTTCTCATGCTTGCTACCACCCAGTCCTGCCTCCTGCACAGCAGTTTCCACTAAAGTCACCCCTTTACG... | benign | 260,123 |
Determine whether the variant at chromosome 17, position 562753, in gene VPS53 (VPS53 subunit of GARP complex) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | ATGAGTCCTTTTCCTACTGACCTTACCTTGACACCGTCAGAAATAGGAAGAGATGATTCCTATTTTAGTTAATCTGAATCATCAGCAGGCCATTAGTCACATTAACTAGGATGGTCTAATATCCAAAGGGAAGGCTGCTGAGCTGTCCTCTCTTTAGCTTGGAATCTCCTGATGTGCAGAACTCATTTAGGACCGTGTGGAGCACGAAAGATGGTTACCTACCCTGTTTCTTTCAGTTAAGAAAAGTCTGCACTGGGACTCATGTGTGCTGGTGGAGGAGGACATAAGCGCATGTTAAGAGAAGTCTGCACTGGAACTCA... | ATGAGTCCTTTTCCTACTGACCTTACCTTGACACCGTCAGAAATAGGAAGAGATGATTCCTATTTTAGTTAATCTGAATCATCAGCAGGCCATTAGTCACATTAACTAGGATGGTCTAATATCCAAAGGGAAGGCTGCTGAGCTGTCCTCTCTTTAGCTTGGAATCTCCTGATGTGCAGAACTCATTTAGGACCGTGTGGAGCACGAAAGATGGTTACCTACCCTGTTTCTTTCAGTTAAGAAAAGTCTGCACTGGGACTCATGTGTGCTGGTGGAGGAGGACATAAGCGCATGTTAAGAGAAGTCTGCACTGGAACTCA... | benign | 260,266 |
Classify the chromosome 17 variant at position 562753 affecting gene VPS53 (VPS53 subunit of GARP complex) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ATGAGTCCTTTTCCTACTGACCTTACCTTGACACCGTCAGAAATAGGAAGAGATGATTCCTATTTTAGTTAATCTGAATCATCAGCAGGCCATTAGTCACATTAACTAGGATGGTCTAATATCCAAAGGGAAGGCTGCTGAGCTGTCCTCTCTTTAGCTTGGAATCTCCTGATGTGCAGAACTCATTTAGGACCGTGTGGAGCACGAAAGATGGTTACCTACCCTGTTTCTTTCAGTTAAGAAAAGTCTGCACTGGGACTCATGTGTGCTGGTGGAGGAGGACATAAGCGCATGTTAAGAGAAGTCTGCACTGGAACTCA... | ATGAGTCCTTTTCCTACTGACCTTACCTTGACACCGTCAGAAATAGGAAGAGATGATTCCTATTTTAGTTAATCTGAATCATCAGCAGGCCATTAGTCACATTAACTAGGATGGTCTAATATCCAAAGGGAAGGCTGCTGAGCTGTCCTCTCTTTAGCTTGGAATCTCCTGATGTGCAGAACTCATTTAGGACCGTGTGGAGCACGAAAGATGGTTACCTACCCTGTTTCTTTCAGTTAAGAAAAGTCTGCACTGGGACTCATGTGTGCTGGTGGAGGAGGACATAAGCGCATGTTAAGAGAAGTCTGCACTGGAACTCA... | benign | 260,267 |
Considering the genetic mutation at chromosome 17, position 586267, impacting VPS53 (VPS53 subunit of GARP complex): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Pontocerebellar_hypoplasia_type_2E', 'Pontoneocerebellar_hypoplasia'] | AGGCCAGTCTGTCTCCAGTCATCTCGTTACAATCATCTTGACCTTTCCAAAACCTGCCTTCCAACGTGGAAGGGCTTGGCTGCGGACAAGGACGCAGGGATGAGGAGGAGTCTTCCTCCTTTTCTAATGCCCCCTCACGCACACAACGGACACTGGAGCACGAACACAGTCTTCGGCTGTTAGTTTGGAAGTCTTTGGGATTTTTTTAAAAACAGGGTGGGAGGGAAGAAACCTGGCCGCAGTGAGATGCTTTATAAAAATATTTGGAGGCTACAAGTTTGTGAAAAGCATATAGTATATTTTGTTTGCTTTTCTTTTCT... | AGGCCAGTCTGTCTCCAGTCATCTCGTTACAATCATCTTGACCTTTCCAAAACCTGCCTTCCAACGTGGAAGGGCTTGGCTGCGGACAAGGACGCAGGGATGAGGAGGAGTCTTCCTCCTTTTCTAATGCCCCCTCACGCACACAACGGACACTGGAGCACGAACACAGTCTTCGGCTGTTAGTTTGGAAGTCTTTGGGATTTTTTTAAAAACAGGGTGGGAGGGAAGAAACCTGGCCGCAGTGAGATGCTTTATAAAAATATTTGGAGGCTACAAGTTTGTGAAAAGCATATAGTATATTTTGTTTGCTTTTCTTTTCT... | pathogenic | 260,270 |
Variant at chromosome 17, position 661879, gene VPS53 (VPS53 subunit of GARP complex): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Pontocerebellar_hypoplasia_type_2E'] | TCTGCACTGGAGCTGACTGGTCTCTTTATTCCCAGGATCTCCCGTCACTCCCCATCCCACAGCCTGTGTTTCTCTAGACAAACTGAACCACTGATTTTTCCCTAAACAAAGCCATCAATGGCAGGGCACACCAGGGGTACTCAGGTCAAACCTACACGAGATCATCTGCGAGACAGAAGGCCCATGGTTGATTCGCCTCAACTGACTTACACGAGACCACCTGTGAGACAGAATGCCCATAGTTGATTTGCCTCAACTGTTGCCCACGGGCTGCGAAAACGGGTAGAGCATGAAATGGGAGGTTGTAGAGTCAGACAGAT... | TCTGCACTGGAGCTGACTGGTCTCTTTATTCCCAGGATCTCCCGTCACTCCCCATCCCACAGCCTGTGTTTCTCTAGACAAACTGAACCACTGATTTTTCCCTAAACAAAGCCATCAATGGCAGGGCACACCAGGGGTACTCAGGTCAAACCTACACGAGATCATCTGCGAGACAGAAGGCCCATGGTTGATTCGCCTCAACTGACTTACACGAGACCACCTGTGAGACAGAATGCCCATAGTTGATTTGCCTCAACTGTTGCCCACGGGCTGCGAAAACGGGTAGAGCATGAAATGGGAGGTTGTAGAGTCAGACAGAT... | pathogenic | 260,303 |
Mutation found at chromosome 17 position 1361317, gene YWHAE (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | ATGAGTGCACAACTGCAGAGACAGAACAAGATCCTGTCCGGAAAAAAAAGTTACCCACAGAATTTTCAGTCCCAATTCCACCTCAAGGTGAAGTTAAATACAAGGACTCAAGCAAATACTTAGTGCACCCATTTTCATAGCAGCATTGTACTCACCATAGGGAAAAGGTGGAAACCCACTGACCACCAAAAGTTTAATGACTAAACAATGTGTGCAAAATACATAAAATGAATTGTGTAAATTCAGTCACTAAAAGGACTGAAGCTCTGATCCATGCTTTTACATGGATAAAAACATTACGCTAGATGAAATAAAGACAG... | ATGAGTGCACAACTGCAGAGACAGAACAAGATCCTGTCCGGAAAAAAAAGTTACCCACAGAATTTTCAGTCCCAATTCCACCTCAAGGTGAAGTTAAATACAAGGACTCAAGCAAATACTTAGTGCACCCATTTTCATAGCAGCATTGTACTCACCATAGGGAAAAGGTGGAAACCCACTGACCACCAAAAGTTTAATGACTAAACAATGTGTGCAAAATACATAAAATGAATTGTGTAAATTCAGTCACTAAAAGGACTGAAGCTCTGATCCATGCTTTTACATGGATAAAAACATTACGCTAGATGAAATAAAGACAG... | benign | 260,390 |
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