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 |
|---|---|---|---|---|---|
Is the genetic variant on chromosome 9, position 95125076, gene FANCC, benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | ACAGTGGCTCAAGCCTGGAATCCAAGCACCTTGGGAGGGCAAGGTGGGAGGATCCCTTGAACCCAGCTGTTTGAGACCAGCCTGAGCAACAGAGAGACTCTATCTCTACAAAAAAAAATTTAAAAATTAGCTGGGCGTGGTGGCTTGAACCTGTGGTCCCAACTACTTGGGAGGCTGAGGTGGGGGGATCGCTTGAGCCCACGAAGCCAAAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCTTGGTGGCAGAGTAAGAGCCTGTCTCAAAAAATAAAATAAAATAAAAATATATTTATTGTTGCTTTAAAA... | ACAGTGGCTCAAGCCTGGAATCCAAGCACCTTGGGAGGGCAAGGTGGGAGGATCCCTTGAACCCAGCTGTTTGAGACCAGCCTGAGCAACAGAGAGACTCTATCTCTACAAAAAAAAATTTAAAAATTAGCTGGGCGTGGTGGCTTGAACCTGTGGTCCCAACTACTTGGGAGGCTGAGGTGGGGGGATCGCTTGAGCCCACGAAGCCAAAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCTTGGTGGCAGAGTAAGAGCCTGTCTCAAAAAATAAAATAAAATAAAAATATATTTATTGTTGCTTTAAAA... | benign | 146,095 |
Considering the variant on chromosome 9, location 95125084, involving gene FANCC, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | TCAAGCCTGGAATCCAAGCACCTTGGGAGGGCAAGGTGGGAGGATCCCTTGAACCCAGCTGTTTGAGACCAGCCTGAGCAACAGAGAGACTCTATCTCTACAAAAAAAAATTTAAAAATTAGCTGGGCGTGGTGGCTTGAACCTGTGGTCCCAACTACTTGGGAGGCTGAGGTGGGGGGATCGCTTGAGCCCACGAAGCCAAAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCTTGGTGGCAGAGTAAGAGCCTGTCTCAAAAAATAAAATAAAATAAAAATATATTTATTGTTGCTTTAAAAAGCAGAAA... | TCAAGCCTGGAATCCAAGCACCTTGGGAGGGCAAGGTGGGAGGATCCCTTGAACCCAGCTGTTTGAGACCAGCCTGAGCAACAGAGAGACTCTATCTCTACAAAAAAAAATTTAAAAATTAGCTGGGCGTGGTGGCTTGAACCTGTGGTCCCAACTACTTGGGAGGCTGAGGTGGGGGGATCGCTTGAGCCCACGAAGCCAAAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCTTGGTGGCAGAGTAAGAGCCTGTCTCAAAAAATAAAATAAAATAAAAATATATTTATTGTTGCTTTAAAAAGCAGAAA... | pathogenic | 146,097 |
Determine if the mutation at chromosome 9, position 95125086 in gene FANCC is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C'] | AAGCCTGGAATCCAAGCACCTTGGGAGGGCAAGGTGGGAGGATCCCTTGAACCCAGCTGTTTGAGACCAGCCTGAGCAACAGAGAGACTCTATCTCTACAAAAAAAAATTTAAAAATTAGCTGGGCGTGGTGGCTTGAACCTGTGGTCCCAACTACTTGGGAGGCTGAGGTGGGGGGATCGCTTGAGCCCACGAAGCCAAAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCTTGGTGGCAGAGTAAGAGCCTGTCTCAAAAAATAAAATAAAATAAAAATATATTTATTGTTGCTTTAAAAAGCAGAAACA... | AAGCCTGGAATCCAAGCACCTTGGGAGGGCAAGGTGGGAGGATCCCTTGAACCCAGCTGTTTGAGACCAGCCTGAGCAACAGAGAGACTCTATCTCTACAAAAAAAAATTTAAAAATTAGCTGGGCGTGGTGGCTTGAACCTGTGGTCCCAACTACTTGGGAGGCTGAGGTGGGGGGATCGCTTGAGCCCACGAAGCCAAAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCTTGGTGGCAGAGTAAGAGCCTGTCTCAAAAAATAAAATAAAATAAAAATATATTTATTGTTGCTTTAAAAAGCAGAAACA... | pathogenic | 146,100 |
Determine if the mutation at chromosome 9, position 95125145 in gene FANCC is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C'] | TTTGAGACCAGCCTGAGCAACAGAGAGACTCTATCTCTACAAAAAAAAATTTAAAAATTAGCTGGGCGTGGTGGCTTGAACCTGTGGTCCCAACTACTTGGGAGGCTGAGGTGGGGGGATCGCTTGAGCCCACGAAGCCAAAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCTTGGTGGCAGAGTAAGAGCCTGTCTCAAAAAATAAAATAAAATAAAAATATATTTATTGTTGCTTTAAAAAGCAGAAACAGGCTGGGTGTGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGAAG... | TTTGAGACCAGCCTGAGCAACAGAGAGACTCTATCTCTACAAAAAAAAATTTAAAAATTAGCTGGGCGTGGTGGCTTGAACCTGTGGTCCCAACTACTTGGGAGGCTGAGGTGGGGGGATCGCTTGAGCCCACGAAGCCAAAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCTTGGTGGCAGAGTAAGAGCCTGTCTCAAAAAATAAAATAAAATAAAAATATATTTATTGTTGCTTTAAAAAGCAGAAACAGGCTGGGTGTGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGAAG... | pathogenic | 146,109 |
The mutation in gene FANCC at chromosome 9, position 95126480—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TGGCAGCTGTTGCCCAGCCTCTGCTGCTGGGGACGTGGAGCACAATCTTCTGCAGGGTGCGGGCCTGGCCTTTGGTTTACTGACTGTGTCTAACACACACCTCCCGCTCACTGCCCTTCCTCACTCCCCTTCTAGTTAGTCAAGCCTTTCCCAGTCACTCTTACCACCTCCTTTCCTGGAAGCCAATTCACATTTGGGTCTCTGATAAGAATGAAGATGCTAATAATTAAGAATGTCCAGGAGTGCTTTGTAATAAGTGCCCTTTCCTATTCATCACATGCCATATAGACCCCAGGGTGCCTCCTGCTGACCTGGGAGGC... | TGGCAGCTGTTGCCCAGCCTCTGCTGCTGGGGACGTGGAGCACAATCTTCTGCAGGGTGCGGGCCTGGCCTTTGGTTTACTGACTGTGTCTAACACACACCTCCCGCTCACTGCCCTTCCTCACTCCCCTTCTAGTTAGTCAAGCCTTTCCCAGTCACTCTTACCACCTCCTTTCCTGGAAGCCAATTCACATTTGGGTCTCTGATAAGAATGAAGATGCTAATAATTAAGAATGTCCAGGAGTGCTTTGTAATAAGTGCCCTTTCCTATTCATCACATGCCATATAGACCCCAGGGTGCCTCCTGCTGACCTGGGAGGC... | benign | 146,121 |
Is the genetic change at chromosome 9, position 95126541, within gene FANCC benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C'] | GGCCTGGCCTTTGGTTTACTGACTGTGTCTAACACACACCTCCCGCTCACTGCCCTTCCTCACTCCCCTTCTAGTTAGTCAAGCCTTTCCCAGTCACTCTTACCACCTCCTTTCCTGGAAGCCAATTCACATTTGGGTCTCTGATAAGAATGAAGATGCTAATAATTAAGAATGTCCAGGAGTGCTTTGTAATAAGTGCCCTTTCCTATTCATCACATGCCATATAGACCCCAGGGTGCCTCCTGCTGACCTGGGAGGCTCAGATGCAGCCAGGGGGCAGTGTCCTGCTCGGCAGACAGTGCACAACACAGGGCCAAGAA... | GGCCTGGCCTTTGGTTTACTGACTGTGTCTAACACACACCTCCCGCTCACTGCCCTTCCTCACTCCCCTTCTAGTTAGTCAAGCCTTTCCCAGTCACTCTTACCACCTCCTTTCCTGGAAGCCAATTCACATTTGGGTCTCTGATAAGAATGAAGATGCTAATAATTAAGAATGTCCAGGAGTGCTTTGTAATAAGTGCCCTTTCCTATTCATCACATGCCATATAGACCCCAGGGTGCCTCCTGCTGACCTGGGAGGCTCAGATGCAGCCAGGGGGCAGTGTCCTGCTCGGCAGACAGTGCACAACACAGGGCCAAGAA... | pathogenic | 146,127 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 95126561, gene FANCC. What disease(s) is it linked to if pathogenic? | pathogenic; ['Fanconi_anemia', 'Hereditary_cancer-predisposing_syndrome'] | GACTGTGTCTAACACACACCTCCCGCTCACTGCCCTTCCTCACTCCCCTTCTAGTTAGTCAAGCCTTTCCCAGTCACTCTTACCACCTCCTTTCCTGGAAGCCAATTCACATTTGGGTCTCTGATAAGAATGAAGATGCTAATAATTAAGAATGTCCAGGAGTGCTTTGTAATAAGTGCCCTTTCCTATTCATCACATGCCATATAGACCCCAGGGTGCCTCCTGCTGACCTGGGAGGCTCAGATGCAGCCAGGGGGCAGTGTCCTGCTCGGCAGACAGTGCACAACACAGGGCCAAGAAGAGCCGTCCTCCAGGGCCAT... | GACTGTGTCTAACACACACCTCCCGCTCACTGCCCTTCCTCACTCCCCTTCTAGTTAGTCAAGCCTTTCCCAGTCACTCTTACCACCTCCTTTCCTGGAAGCCAATTCACATTTGGGTCTCTGATAAGAATGAAGATGCTAATAATTAAGAATGTCCAGGAGTGCTTTGTAATAAGTGCCCTTTCCTATTCATCACATGCCATATAGACCCCAGGGTGCCTCCTGCTGACCTGGGAGGCTCAGATGCAGCCAGGGGGCAGTGTCCTGCTCGGCAGACAGTGCACAACACAGGGCCAAGAAGAGCCGTCCTCCAGGGCCAT... | pathogenic | 146,131 |
Benign or pathogenic: chromosome 9, position 95135362, gene FANCC variant? Disease(s) if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C'] | GAGAGGTCACATCCTGCCAATGCCACAATAAATTAAACCAAATAACACCCTCTAGAATCCCCCTTTAGCCATAATGGAAGCTCTGAATTTCTGCACACATGATCCCGATAAAAGCTTTTGTAAGTCAACTGACTTCAAAGCTGTGTGACTCGTGGGAGATTACTGTAAACTACAAACTGGAGACTGAGCATTATACAGTTATGTGCAATGGGACGGCCTGCGTTCTCTGTCTTGCATCTGCTGTGCTCACCACAGTGCTGCTCAGGCATGAGGGCCACAGGCAAAAAGGACATGGAGAAGGTTCAGGGAAGAATCCAAGG... | GAGAGGTCACATCCTGCCAATGCCACAATAAATTAAACCAAATAACACCCTCTAGAATCCCCCTTTAGCCATAATGGAAGCTCTGAATTTCTGCACACATGATCCCGATAAAAGCTTTTGTAAGTCAACTGACTTCAAAGCTGTGTGACTCGTGGGAGATTACTGTAAACTACAAACTGGAGACTGAGCATTATACAGTTATGTGCAATGGGACGGCCTGCGTTCTCTGTCTTGCATCTGCTGTGCTCACCACAGTGCTGCTCAGGCATGAGGGCCACAGGCAAAAAGGACATGGAGAAGGTTCAGGGAAGAATCCAAGG... | pathogenic | 146,145 |
Is the genetic variant on chromosome 9, position 95135483, gene FANCC, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C'] | AAGTCAACTGACTTCAAAGCTGTGTGACTCGTGGGAGATTACTGTAAACTACAAACTGGAGACTGAGCATTATACAGTTATGTGCAATGGGACGGCCTGCGTTCTCTGTCTTGCATCTGCTGTGCTCACCACAGTGCTGCTCAGGCATGAGGGCCACAGGCAAAAAGGACATGGAGAAGGTTCAGGGAAGAATCCAAGGATTAAGGAAAGGCTGGAAAAAAGGCAATGGGACTAGAATTTTTCAATAGGGAGAAGACTTAAGGAAAATGTCATAAGCACCCTGGAAGCAAGCATATAGCCCAGTTACTATCATTTTGCCA... | AAGTCAACTGACTTCAAAGCTGTGTGACTCGTGGGAGATTACTGTAAACTACAAACTGGAGACTGAGCATTATACAGTTATGTGCAATGGGACGGCCTGCGTTCTCTGTCTTGCATCTGCTGTGCTCACCACAGTGCTGCTCAGGCATGAGGGCCACAGGCAAAAAGGACATGGAGAAGGTTCAGGGAAGAATCCAAGGATTAAGGAAAGGCTGGAAAAAAGGCAATGGGACTAGAATTTTTCAATAGGGAGAAGACTTAAGGAAAATGTCATAAGCACCCTGGAAGCAAGCATATAGCCCAGTTACTATCATTTTGCCA... | pathogenic | 146,153 |
Considering the genetic mutation at chromosome 9, position 95149968, impacting FANCC: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C'] | AGTTGGCCACACACCCAAGTGGTAGGGAAATACTTAAAGTACTGAATAACTATTTTGAATCTCCTGGTTTTTCCTGGAATAACCGTGTTGACATTTGCACTGATAGCGCAAAAGCAACAGTGGGTAACACAGCTGTGTCTCAGTGGGAATCAGAGCCGAGACAGCCCTCACGCTACTCTTCACCACCACACACACACAGTCGAAACACTGCATTTTCACATATGAATGTCTGATGAAGCAGTTTAACATACTGACTTTATTAAACTGTTGCCCTCAAGGATACTTTTAAAAAAGAATTCTGTACGGTGAAAAGGAAAGTG... | AGTTGGCCACACACCCAAGTGGTAGGGAAATACTTAAAGTACTGAATAACTATTTTGAATCTCCTGGTTTTTCCTGGAATAACCGTGTTGACATTTGCACTGATAGCGCAAAAGCAACAGTGGGTAACACAGCTGTGTCTCAGTGGGAATCAGAGCCGAGACAGCCCTCACGCTACTCTTCACCACCACACACACACAGTCGAAACACTGCATTTTCACATATGAATGTCTGATGAAGCAGTTTAACATACTGACTTTATTAAACTGTTGCCCTCAAGGATACTTTTAAAAAAGAATTCTGTACGGTGAAAAGGAAAGTG... | pathogenic | 146,171 |
Is the genetic change at chromosome 9, position 95150013, within gene FANCC benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Carcinoma_of_colon', 'Hereditary_cancer-predisposing_syndrome'] | ATAACTATTTTGAATCTCCTGGTTTTTCCTGGAATAACCGTGTTGACATTTGCACTGATAGCGCAAAAGCAACAGTGGGTAACACAGCTGTGTCTCAGTGGGAATCAGAGCCGAGACAGCCCTCACGCTACTCTTCACCACCACACACACACAGTCGAAACACTGCATTTTCACATATGAATGTCTGATGAAGCAGTTTAACATACTGACTTTATTAAACTGTTGCCCTCAAGGATACTTTTAAAAAAGAATTCTGTACGGTGAAAAGGAAAGTGTGCATAAAGCACTTCTGCTTCATAACAAAAAAAGACGGTTGCCTG... | ATAACTATTTTGAATCTCCTGGTTTTTCCTGGAATAACCGTGTTGACATTTGCACTGATAGCGCAAAAGCAACAGTGGGTAACACAGCTGTGTCTCAGTGGGAATCAGAGCCGAGACAGCCCTCACGCTACTCTTCACCACCACACACACACAGTCGAAACACTGCATTTTCACATATGAATGTCTGATGAAGCAGTTTAACATACTGACTTTATTAAACTGTTGCCCTCAAGGATACTTTTAAAAAAGAATTCTGTACGGTGAAAAGGAAAGTGTGCATAAAGCACTTCTGCTTCATAACAAAAAAAGACGGTTGCCTG... | pathogenic | 146,175 |
Variant at chromosome 9, position 95150013, gene FANCC: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Fanconi_anemia', 'Hereditary_cancer-predisposing_syndrome'] | ATAACTATTTTGAATCTCCTGGTTTTTCCTGGAATAACCGTGTTGACATTTGCACTGATAGCGCAAAAGCAACAGTGGGTAACACAGCTGTGTCTCAGTGGGAATCAGAGCCGAGACAGCCCTCACGCTACTCTTCACCACCACACACACACAGTCGAAACACTGCATTTTCACATATGAATGTCTGATGAAGCAGTTTAACATACTGACTTTATTAAACTGTTGCCCTCAAGGATACTTTTAAAAAAGAATTCTGTACGGTGAAAAGGAAAGTGTGCATAAAGCACTTCTGCTTCATAACAAAAAAAGACGGTTGCCTG... | ATAACTATTTTGAATCTCCTGGTTTTTCCTGGAATAACCGTGTTGACATTTGCACTGATAGCGCAAAAGCAACAGTGGGTAACACAGCTGTGTCTCAGTGGGAATCAGAGCCGAGACAGCCCTCACGCTACTCTTCACCACCACACACACACAGTCGAAACACTGCATTTTCACATATGAATGTCTGATGAAGCAGTTTAACATACTGACTTTATTAAACTGTTGCCCTCAAGGATACTTTTAAAAAAGAATTCTGTACGGTGAAAAGGAAAGTGTGCATAAAGCACTTCTGCTTCATAACAAAAAAAGACGGTTGCCTG... | pathogenic | 146,176 |
Regarding the variant found on chromosome 9 at position 95171065 in gene FANCC (FA complementation group C): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CTCTTATTTTATTAATACTTAATAATGACCTCAAAGTCCAAGAGCACTGGGGCTGGCAATTTGGATATGCCACAGAGAAGTTGTAAAGTGCTTTCTTTAAGTGAAAAGGTGAAAGTTTTCAACTTAATAAGGAAAGAAAAAAATCATATGCTGAGGTTGCTGAGATCTATAGTAAAAACAAATCATCTATCTGTGAAATTGTAAAGAAGGAAAAAAATTTCTGTTAGTTTTGTCGTTGCATCTCACATGGCAAAAATTACAGCCATCATATATGATAAGTGCTTAGTTACGATGGAAAAGACATTAAAGTTGTGAGTGGA... | CTCTTATTTTATTAATACTTAATAATGACCTCAAAGTCCAAGAGCACTGGGGCTGGCAATTTGGATATGCCACAGAGAAGTTGTAAAGTGCTTTCTTTAAGTGAAAAGGTGAAAGTTTTCAACTTAATAAGGAAAGAAAAAAATCATATGCTGAGGTTGCTGAGATCTATAGTAAAAACAAATCATCTATCTGTGAAATTGTAAAGAAGGAAAAAAATTTCTGTTAGTTTTGTCGTTGCATCTCACATGGCAAAAATTACAGCCATCATATATGATAAGTGCTTAGTTACGATGGAAAAGACATTAAAGTTGTGAGTGGA... | benign | 146,193 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 95171080, gene FANCC (FA complementation group C). What disease(s) is it linked to if pathogenic? | pathogenic; ['Fanconi_anemia_complementation_group_A'] | TACTTAATAATGACCTCAAAGTCCAAGAGCACTGGGGCTGGCAATTTGGATATGCCACAGAGAAGTTGTAAAGTGCTTTCTTTAAGTGAAAAGGTGAAAGTTTTCAACTTAATAAGGAAAGAAAAAAATCATATGCTGAGGTTGCTGAGATCTATAGTAAAAACAAATCATCTATCTGTGAAATTGTAAAGAAGGAAAAAAATTTCTGTTAGTTTTGTCGTTGCATCTCACATGGCAAAAATTACAGCCATCATATATGATAAGTGCTTAGTTACGATGGAAAAGACATTAAAGTTGTGAGTGGAATACAGAAATGTGTT... | TACTTAATAATGACCTCAAAGTCCAAGAGCACTGGGGCTGGCAATTTGGATATGCCACAGAGAAGTTGTAAAGTGCTTTCTTTAAGTGAAAAGGTGAAAGTTTTCAACTTAATAAGGAAAGAAAAAAATCATATGCTGAGGTTGCTGAGATCTATAGTAAAAACAAATCATCTATCTGTGAAATTGTAAAGAAGGAAAAAAATTTCTGTTAGTTTTGTCGTTGCATCTCACATGGCAAAAATTACAGCCATCATATATGATAAGTGCTTAGTTACGATGGAAAAGACATTAAAGTTGTGAGTGGAATACAGAAATGTGTT... | pathogenic | 146,196 |
A genetic alteration at chromosome 9, position 95171092, in gene FANCC (FA complementation group C)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | ACCTCAAAGTCCAAGAGCACTGGGGCTGGCAATTTGGATATGCCACAGAGAAGTTGTAAAGTGCTTTCTTTAAGTGAAAAGGTGAAAGTTTTCAACTTAATAAGGAAAGAAAAAAATCATATGCTGAGGTTGCTGAGATCTATAGTAAAAACAAATCATCTATCTGTGAAATTGTAAAGAAGGAAAAAAATTTCTGTTAGTTTTGTCGTTGCATCTCACATGGCAAAAATTACAGCCATCATATATGATAAGTGCTTAGTTACGATGGAAAAGACATTAAAGTTGTGAGTGGAATACAGAAATGTGTTATGATTGGTGGC... | ACCTCAAAGTCCAAGAGCACTGGGGCTGGCAATTTGGATATGCCACAGAGAAGTTGTAAAGTGCTTTCTTTAAGTGAAAAGGTGAAAGTTTTCAACTTAATAAGGAAAGAAAAAAATCATATGCTGAGGTTGCTGAGATCTATAGTAAAAACAAATCATCTATCTGTGAAATTGTAAAGAAGGAAAAAAATTTCTGTTAGTTTTGTCGTTGCATCTCACATGGCAAAAATTACAGCCATCATATATGATAAGTGCTTAGTTACGATGGAAAAGACATTAAAGTTGTGAGTGGAATACAGAAATGTGTTATGATTGGTGGC... | pathogenic | 146,199 |
Is the genetic change at chromosome 9, position 95171109, within gene FANCC (FA complementation group C) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | CACTGGGGCTGGCAATTTGGATATGCCACAGAGAAGTTGTAAAGTGCTTTCTTTAAGTGAAAAGGTGAAAGTTTTCAACTTAATAAGGAAAGAAAAAAATCATATGCTGAGGTTGCTGAGATCTATAGTAAAAACAAATCATCTATCTGTGAAATTGTAAAGAAGGAAAAAAATTTCTGTTAGTTTTGTCGTTGCATCTCACATGGCAAAAATTACAGCCATCATATATGATAAGTGCTTAGTTACGATGGAAAAGACATTAAAGTTGTGAGTGGAATACAGAAATGTGTTATGATTGGTGGCAATCAGGTTTGGTACTA... | CACTGGGGCTGGCAATTTGGATATGCCACAGAGAAGTTGTAAAGTGCTTTCTTTAAGTGAAAAGGTGAAAGTTTTCAACTTAATAAGGAAAGAAAAAAATCATATGCTGAGGTTGCTGAGATCTATAGTAAAAACAAATCATCTATCTGTGAAATTGTAAAGAAGGAAAAAAATTTCTGTTAGTTTTGTCGTTGCATCTCACATGGCAAAAATTACAGCCATCATATATGATAAGTGCTTAGTTACGATGGAAAAGACATTAAAGTTGTGAGTGGAATACAGAAATGTGTTATGATTGGTGGCAATCAGGTTTGGTACTA... | pathogenic | 146,201 |
Is the chromosome 9, position 95171109 variant in FANCC (FA complementation group C) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | CACTGGGGCTGGCAATTTGGATATGCCACAGAGAAGTTGTAAAGTGCTTTCTTTAAGTGAAAAGGTGAAAGTTTTCAACTTAATAAGGAAAGAAAAAAATCATATGCTGAGGTTGCTGAGATCTATAGTAAAAACAAATCATCTATCTGTGAAATTGTAAAGAAGGAAAAAAATTTCTGTTAGTTTTGTCGTTGCATCTCACATGGCAAAAATTACAGCCATCATATATGATAAGTGCTTAGTTACGATGGAAAAGACATTAAAGTTGTGAGTGGAATACAGAAATGTGTTATGATTGGTGGCAATCAGGTTTGGTACTA... | CACTGGGGCTGGCAATTTGGATATGCCACAGAGAAGTTGTAAAGTGCTTTCTTTAAGTGAAAAGGTGAAAGTTTTCAACTTAATAAGGAAAGAAAAAAATCATATGCTGAGGTTGCTGAGATCTATAGTAAAAACAAATCATCTATCTGTGAAATTGTAAAGAAGGAAAAAAATTTCTGTTAGTTTTGTCGTTGCATCTCACATGGCAAAAATTACAGCCATCATATATGATAAGTGCTTAGTTACGATGGAAAAGACATTAAAGTTGTGAGTGGAATACAGAAATGTGTTATGATTGGTGGCAATCAGGTTTGGTACTA... | pathogenic | 146,202 |
A genetic variant at chromosome 9, position 95171114, affecting gene FANCC (FA complementation group C)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C'] | GGGCTGGCAATTTGGATATGCCACAGAGAAGTTGTAAAGTGCTTTCTTTAAGTGAAAAGGTGAAAGTTTTCAACTTAATAAGGAAAGAAAAAAATCATATGCTGAGGTTGCTGAGATCTATAGTAAAAACAAATCATCTATCTGTGAAATTGTAAAGAAGGAAAAAAATTTCTGTTAGTTTTGTCGTTGCATCTCACATGGCAAAAATTACAGCCATCATATATGATAAGTGCTTAGTTACGATGGAAAAGACATTAAAGTTGTGAGTGGAATACAGAAATGTGTTATGATTGGTGGCAATCAGGTTTGGTACTATCCAC... | GGGCTGGCAATTTGGATATGCCACAGAGAAGTTGTAAAGTGCTTTCTTTAAGTGAAAAGGTGAAAGTTTTCAACTTAATAAGGAAAGAAAAAAATCATATGCTGAGGTTGCTGAGATCTATAGTAAAAACAAATCATCTATCTGTGAAATTGTAAAGAAGGAAAAAAATTTCTGTTAGTTTTGTCGTTGCATCTCACATGGCAAAAATTACAGCCATCATATATGATAAGTGCTTAGTTACGATGGAAAAGACATTAAAGTTGTGAGTGGAATACAGAAATGTGTTATGATTGGTGGCAATCAGGTTTGGTACTATCCAC... | pathogenic | 146,203 |
Is the genetic mutation found on chromosome 9 at position 95171139, within the gene FANCC (FA complementation group C), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C'] | GAGAAGTTGTAAAGTGCTTTCTTTAAGTGAAAAGGTGAAAGTTTTCAACTTAATAAGGAAAGAAAAAAATCATATGCTGAGGTTGCTGAGATCTATAGTAAAAACAAATCATCTATCTGTGAAATTGTAAAGAAGGAAAAAAATTTCTGTTAGTTTTGTCGTTGCATCTCACATGGCAAAAATTACAGCCATCATATATGATAAGTGCTTAGTTACGATGGAAAAGACATTAAAGTTGTGAGTGGAATACAGAAATGTGTTATGATTGGTGGCAATCAGGTTTGGTACTATCCACAGTTTCAGACATCCACTGGGTGTCT... | GAGAAGTTGTAAAGTGCTTTCTTTAAGTGAAAAGGTGAAAGTTTTCAACTTAATAAGGAAAGAAAAAAATCATATGCTGAGGTTGCTGAGATCTATAGTAAAAACAAATCATCTATCTGTGAAATTGTAAAGAAGGAAAAAAATTTCTGTTAGTTTTGTCGTTGCATCTCACATGGCAAAAATTACAGCCATCATATATGATAAGTGCTTAGTTACGATGGAAAAGACATTAAAGTTGTGAGTGGAATACAGAAATGTGTTATGATTGGTGGCAATCAGGTTTGGTACTATCCACAGTTTCAGACATCCACTGGGTGTCT... | pathogenic | 146,206 |
Clinical impact (benign or pathogenic) of the variant at chromosome 9, location 95172037, gene FANCC (FA complementation group C): what disease(s) if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | TATTTGTTAACAGATTTTAAAAATTATTTTGTTTATTGTCAGCTGCTTTTTAAAAAATCAACTGTGATGCATATTTTGGGAGTTTGGTGTAGGGAGTACATACACACTGCACTGACTGATTTTTAAGGTCTTTTTGAATAAATTTATAATTACATAATTCAAAAGATCCATCAGTCAACATTCACCTCACAACCAAATCCAAGTCTTTACCTGACATGTAAATAAATAAATCTAAACACTCTCCATGTCTCCTATGGTTCTTCTTACATTGCCAAATCCAACATAATGAAGATTATCTCCAATGTTTTCCTCTAATAATT... | TATTTGTTAACAGATTTTAAAAATTATTTTGTTTATTGTCAGCTGCTTTTTAAAAAATCAACTGTGATGCATATTTTGGGAGTTTGGTGTAGGGAGTACATACACACTGCACTGACTGATTTTTAAGGTCTTTTTGAATAAATTTATAATTACATAATTCAAAAGATCCATCAGTCAACATTCACCTCACAACCAAATCCAAGTCTTTACCTGACATGTAAATAAATAAATCTAAACACTCTCCATGTCTCCTATGGTTCTTCTTACATTGCCAAATCCAACATAATGAAGATTATCTCCAATGTTTTCCTCTAATAATT... | pathogenic | 146,213 |
Does the variant on chromosome 9 at location 95172111 affecting gene FANCC (FA complementation group C) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | TTTGGGAGTTTGGTGTAGGGAGTACATACACACTGCACTGACTGATTTTTAAGGTCTTTTTGAATAAATTTATAATTACATAATTCAAAAGATCCATCAGTCAACATTCACCTCACAACCAAATCCAAGTCTTTACCTGACATGTAAATAAATAAATCTAAACACTCTCCATGTCTCCTATGGTTCTTCTTACATTGCCAAATCCAACATAATGAAGATTATCTCCAATGTTTTCCTCTAATAATTATATAGTTTAAGGGTTAGGTGCAAAGGATTCCTAAAGGTTGAGGACAAAGACAATTTCTGATAGAGCTTGAATT... | TTTGGGAGTTTGGTGTAGGGAGTACATACACACTGCACTGACTGATTTTTAAGGTCTTTTTGAATAAATTTATAATTACATAATTCAAAAGATCCATCAGTCAACATTCACCTCACAACCAAATCCAAGTCTTTACCTGACATGTAAATAAATAAATCTAAACACTCTCCATGTCTCCTATGGTTCTTCTTACATTGCCAAATCCAACATAATGAAGATTATCTCCAATGTTTTCCTCTAATAATTATATAGTTTAAGGGTTAGGTGCAAAGGATTCCTAAAGGTTGAGGACAAAGACAATTTCTGATAGAGCTTGAATT... | pathogenic | 146,223 |
Considering the genetic mutation at chromosome 9, position 95172114, impacting FANCC (FA complementation group C): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C'] | GGGAGTTTGGTGTAGGGAGTACATACACACTGCACTGACTGATTTTTAAGGTCTTTTTGAATAAATTTATAATTACATAATTCAAAAGATCCATCAGTCAACATTCACCTCACAACCAAATCCAAGTCTTTACCTGACATGTAAATAAATAAATCTAAACACTCTCCATGTCTCCTATGGTTCTTCTTACATTGCCAAATCCAACATAATGAAGATTATCTCCAATGTTTTCCTCTAATAATTATATAGTTTAAGGGTTAGGTGCAAAGGATTCCTAAAGGTTGAGGACAAAGACAATTTCTGATAGAGCTTGAATTAGC... | GGGAGTTTGGTGTAGGGAGTACATACACACTGCACTGACTGATTTTTAAGGTCTTTTTGAATAAATTTATAATTACATAATTCAAAAGATCCATCAGTCAACATTCACCTCACAACCAAATCCAAGTCTTTACCTGACATGTAAATAAATAAATCTAAACACTCTCCATGTCTCCTATGGTTCTTCTTACATTGCCAAATCCAACATAATGAAGATTATCTCCAATGTTTTCCTCTAATAATTATATAGTTTAAGGGTTAGGTGCAAAGGATTCCTAAAGGTTGAGGACAAAGACAATTTCTGATAGAGCTTGAATTAGC... | pathogenic | 146,224 |
Chromosome 9, position 95172129, gene FANCC (FA complementation group C): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | GGAGTACATACACACTGCACTGACTGATTTTTAAGGTCTTTTTGAATAAATTTATAATTACATAATTCAAAAGATCCATCAGTCAACATTCACCTCACAACCAAATCCAAGTCTTTACCTGACATGTAAATAAATAAATCTAAACACTCTCCATGTCTCCTATGGTTCTTCTTACATTGCCAAATCCAACATAATGAAGATTATCTCCAATGTTTTCCTCTAATAATTATATAGTTTAAGGGTTAGGTGCAAAGGATTCCTAAAGGTTGAGGACAAAGACAATTTCTGATAGAGCTTGAATTAGCAATAGCTTTACAAAA... | GGAGTACATACACACTGCACTGACTGATTTTTAAGGTCTTTTTGAATAAATTTATAATTACATAATTCAAAAGATCCATCAGTCAACATTCACCTCACAACCAAATCCAAGTCTTTACCTGACATGTAAATAAATAAATCTAAACACTCTCCATGTCTCCTATGGTTCTTCTTACATTGCCAAATCCAACATAATGAAGATTATCTCCAATGTTTTCCTCTAATAATTATATAGTTTAAGGGTTAGGTGCAAAGGATTCCTAAAGGTTGAGGACAAAGACAATTTCTGATAGAGCTTGAATTAGCAATAGCTTTACAAAA... | pathogenic | 146,226 |
Variant chromosome 9, position 95172133, gene FANCC (FA complementation group C): benign or pathogenic? Disease(s)? | pathogenic; ['FANCC-related_disorder', 'Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | TACATACACACTGCACTGACTGATTTTTAAGGTCTTTTTGAATAAATTTATAATTACATAATTCAAAAGATCCATCAGTCAACATTCACCTCACAACCAAATCCAAGTCTTTACCTGACATGTAAATAAATAAATCTAAACACTCTCCATGTCTCCTATGGTTCTTCTTACATTGCCAAATCCAACATAATGAAGATTATCTCCAATGTTTTCCTCTAATAATTATATAGTTTAAGGGTTAGGTGCAAAGGATTCCTAAAGGTTGAGGACAAAGACAATTTCTGATAGAGCTTGAATTAGCAATAGCTTTACAAAAAAAA... | TACATACACACTGCACTGACTGATTTTTAAGGTCTTTTTGAATAAATTTATAATTACATAATTCAAAAGATCCATCAGTCAACATTCACCTCACAACCAAATCCAAGTCTTTACCTGACATGTAAATAAATAAATCTAAACACTCTCCATGTCTCCTATGGTTCTTCTTACATTGCCAAATCCAACATAATGAAGATTATCTCCAATGTTTTCCTCTAATAATTATATAGTTTAAGGGTTAGGTGCAAAGGATTCCTAAAGGTTGAGGACAAAGACAATTTCTGATAGAGCTTGAATTAGCAATAGCTTTACAAAAAAAA... | pathogenic | 146,227 |
Variant at chromosome position 95240647, chromosome 9, gene FANCC (FA complementation group C): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Fanconi_anemia_complementation_group_C'] | TCTGTCACCCAGGCTGGAGTGCAGTGGCATGATATCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGAGAGTACAGGCACGTGCCACCATTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTAGCCAGGATGGTTTTGATCTCCTGACGTCATGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGGCATGAGCCACCGCGCCCAGGCATGATTTCTCTGTTTTAAATACTCTGGTGGCTGCCCCACTGTCATCAAGATAAAAACCTTC... | TCTGTCACCCAGGCTGGAGTGCAGTGGCATGATATCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGAGAGTACAGGCACGTGCCACCATTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTAGCCAGGATGGTTTTGATCTCCTGACGTCATGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGGCATGAGCCACCGCGCCCAGGCATGATTTCTCTGTTTTAAATACTCTGGTGGCTGCCCCACTGTCATCAAGATAAAAACCTTC... | pathogenic | 146,233 |
Does the genetic variant at chromosome 9, position 95240696, impacting gene FANCC (FA complementation group C), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C'] | CTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGAGAGTACAGGCACGTGCCACCATTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTAGCCAGGATGGTTTTGATCTCCTGACGTCATGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGGCATGAGCCACCGCGCCCAGGCATGATTTCTCTGTTTTAAATACTCTGGTGGCTGCCCCACTGTCATCAAGATAAAAACCTTCTATAGTCATATGCAAGGACTGTGCTTGCTGGTCTCTCTGGCTTCATGCT... | CTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGAGAGTACAGGCACGTGCCACCATTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTAGCCAGGATGGTTTTGATCTCCTGACGTCATGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGGCATGAGCCACCGCGCCCAGGCATGATTTCTCTGTTTTAAATACTCTGGTGGCTGCCCCACTGTCATCAAGATAAAAACCTTCTATAGTCATATGCAAGGACTGTGCTTGCTGGTCTCTCTGGCTTCATGCT... | pathogenic | 146,244 |
Chromosome 9, position 95240700, gene FANCC (FA complementation group C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | GCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGAGAGTACAGGCACGTGCCACCATTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTAGCCAGGATGGTTTTGATCTCCTGACGTCATGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGGCATGAGCCACCGCGCCCAGGCATGATTTCTCTGTTTTAAATACTCTGGTGGCTGCCCCACTGTCATCAAGATAAAAACCTTCTATAGTCATATGCAAGGACTGTGCTTGCTGGTCTCTCTGGCTTCATGCTTCAT... | GCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGAGAGTACAGGCACGTGCCACCATTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTAGCCAGGATGGTTTTGATCTCCTGACGTCATGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGGCATGAGCCACCGCGCCCAGGCATGATTTCTCTGTTTTAAATACTCTGGTGGCTGCCCCACTGTCATCAAGATAAAAACCTTCTATAGTCATATGCAAGGACTGTGCTTGCTGGTCTCTCTGGCTTCATGCTTCAT... | pathogenic | 146,245 |
Is chromosome 9, position 95240726, gene FANCC (FA complementation group C) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C'] | GCCTCAGCCTCCCTAGTAGCTGAGAGTACAGGCACGTGCCACCATTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTAGCCAGGATGGTTTTGATCTCCTGACGTCATGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGGCATGAGCCACCGCGCCCAGGCATGATTTCTCTGTTTTAAATACTCTGGTGGCTGCCCCACTGTCATCAAGATAAAAACCTTCTATAGTCATATGCAAGGACTGTGCTTGCTGGTCTCTCTGGCTTCATGCTTCATCACCAACTCCACAAAACCCCAAGTTC... | GCCTCAGCCTCCCTAGTAGCTGAGAGTACAGGCACGTGCCACCATTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTAGCCAGGATGGTTTTGATCTCCTGACGTCATGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGGCATGAGCCACCGCGCCCAGGCATGATTTCTCTGTTTTAAATACTCTGGTGGCTGCCCCACTGTCATCAAGATAAAAACCTTCTATAGTCATATGCAAGGACTGTGCTTGCTGGTCTCTCTGGCTTCATGCTTCATCACCAACTCCACAAAACCCCAAGTTC... | pathogenic | 146,251 |
Mutation found at chromosome 9 position 95240728, gene FANCC (FA complementation group C): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | CTCAGCCTCCCTAGTAGCTGAGAGTACAGGCACGTGCCACCATTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTAGCCAGGATGGTTTTGATCTCCTGACGTCATGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGGCATGAGCCACCGCGCCCAGGCATGATTTCTCTGTTTTAAATACTCTGGTGGCTGCCCCACTGTCATCAAGATAAAAACCTTCTATAGTCATATGCAAGGACTGTGCTTGCTGGTCTCTCTGGCTTCATGCTTCATCACCAACTCCACAAAACCCCAAGTTCCA... | CTCAGCCTCCCTAGTAGCTGAGAGTACAGGCACGTGCCACCATTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTAGCCAGGATGGTTTTGATCTCCTGACGTCATGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGGCATGAGCCACCGCGCCCAGGCATGATTTCTCTGTTTTAAATACTCTGGTGGCTGCCCCACTGTCATCAAGATAAAAACCTTCTATAGTCATATGCAAGGACTGTGCTTGCTGGTCTCTCTGGCTTCATGCTTCATCACCAACTCCACAAAACCCCAAGTTCCA... | pathogenic | 146,252 |
Does the chromosome 9 mutation at position 95247461 within gene FANCC (FA complementation group C) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C'] | AATAGTACCAAACCTTAAATACAGTGTTTTCTCCTATACACATACCTATGATAAAGTTTAACTTATAAACTAGGCATAGCAAGGGATTAACAATGACAACAATACAATAAATCAACTGTAACAATATAGTGTAATAGAAGTTATGTACTACACTATATTGTTACAGTTGATTTATTGTATTGTTGTCATTGTTAAACCCTTAGGCCAGGCACGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGTCGAGGCGGGTGAATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTA... | AATAGTACCAAACCTTAAATACAGTGTTTTCTCCTATACACATACCTATGATAAAGTTTAACTTATAAACTAGGCATAGCAAGGGATTAACAATGACAACAATACAATAAATCAACTGTAACAATATAGTGTAATAGAAGTTATGTACTACACTATATTGTTACAGTTGATTTATTGTATTGTTGTCATTGTTAAACCCTTAGGCCAGGCACGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGTCGAGGCGGGTGAATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTA... | pathogenic | 146,260 |
Is the genetic change at chromosome 9, position 95247512, within gene FANCC (FA complementation group C) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | TAAAGTTTAACTTATAAACTAGGCATAGCAAGGGATTAACAATGACAACAATACAATAAATCAACTGTAACAATATAGTGTAATAGAAGTTATGTACTACACTATATTGTTACAGTTGATTTATTGTATTGTTGTCATTGTTAAACCCTTAGGCCAGGCACGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGTCGAGGCGGGTGAATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAATCAGCTGGGTGTGGTGGCAGGCACCTGTAATCCCAG... | TAAAGTTTAACTTATAAACTAGGCATAGCAAGGGATTAACAATGACAACAATACAATAAATCAACTGTAACAATATAGTGTAATAGAAGTTATGTACTACACTATATTGTTACAGTTGATTTATTGTATTGTTGTCATTGTTAAACCCTTAGGCCAGGCACGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGTCGAGGCGGGTGAATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAATCAGCTGGGTGTGGTGGCAGGCACCTGTAATCCCAG... | pathogenic | 146,264 |
Determine whether the variant at chromosome 9, position 95249125, in gene FANCC (FA complementation group C) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | CCATTTTATATTGAATTTAAAATGAAGTTATGAAAGTGATTACAGGCAAAAGTAGATATTTAAATCATCTGGGAGTTTCTGTCCTCTAATACGAAGAGCTCTATTTTCCTGAAGATCTGCATGGGTGCGTGCACGCGTGTGTGTGTGTGTGTGTGTGTGTTTATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAA... | CCATTTTATATTGAATTTAAAATGAAGTTATGAAAGTGATTACAGGCAAAAGTAGATATTTAAATCATCTGGGAGTTTCTGTCCTCTAATACGAAGAGCTCTATTTTCCTGAAGATCTGCATGGGTGCGTGCACGCGTGTGTGTGTGTGTGTGTGTGTGTTTATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAA... | pathogenic | 146,271 |
The chromosome 9, position 95249149 genetic variant in gene FANCC (FA complementation group C): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Fanconi_anemia', 'Hereditary_cancer-predisposing_syndrome'] | AAGTTATGAAAGTGATTACAGGCAAAAGTAGATATTTAAATCATCTGGGAGTTTCTGTCCTCTAATACGAAGAGCTCTATTTTCCTGAAGATCTGCATGGGTGCGTGCACGCGTGTGTGTGTGTGTGTGTGTGTGTTTATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAATAGCCATTTTGAGAGGACACGTTT... | AAGTTATGAAAGTGATTACAGGCAAAAGTAGATATTTAAATCATCTGGGAGTTTCTGTCCTCTAATACGAAGAGCTCTATTTTCCTGAAGATCTGCATGGGTGCGTGCACGCGTGTGTGTGTGTGTGTGTGTGTGTTTATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAATAGCCATTTTGAGAGGACACGTTT... | pathogenic | 146,274 |
Is the genetic variant on chromosome 9, position 95249174, gene FANCC (FA complementation group C), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Fanconi_anemia_complementation_group_C'] | AAGTAGATATTTAAATCATCTGGGAGTTTCTGTCCTCTAATACGAAGAGCTCTATTTTCCTGAAGATCTGCATGGGTGCGTGCACGCGTGTGTGTGTGTGTGTGTGTGTGTTTATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAATAGCCATTTTGAGAGGACACGTTTTTGATTCTTACCATATGCTAAAATA... | AAGTAGATATTTAAATCATCTGGGAGTTTCTGTCCTCTAATACGAAGAGCTCTATTTTCCTGAAGATCTGCATGGGTGCGTGCACGCGTGTGTGTGTGTGTGTGTGTGTGTTTATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAATAGCCATTTTGAGAGGACACGTTTTTGATTCTTACCATATGCTAAAATA... | pathogenic | 146,281 |
Gene mutation in FANCC (FA complementation group C) at chromosome 9, position 95249182—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C'] | ATTTAAATCATCTGGGAGTTTCTGTCCTCTAATACGAAGAGCTCTATTTTCCTGAAGATCTGCATGGGTGCGTGCACGCGTGTGTGTGTGTGTGTGTGTGTGTTTATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAATAGCCATTTTGAGAGGACACGTTTTTGATTCTTACCATATGCTAAAATAAAAGGATT... | ATTTAAATCATCTGGGAGTTTCTGTCCTCTAATACGAAGAGCTCTATTTTCCTGAAGATCTGCATGGGTGCGTGCACGCGTGTGTGTGTGTGTGTGTGTGTGTTTATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAATAGCCATTTTGAGAGGACACGTTTTTGATTCTTACCATATGCTAAAATAAAAGGATT... | pathogenic | 146,283 |
Variant at chromosome position 95249224, chromosome 9, gene FANCC (FA complementation group C): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['FANCC-related_disorder', 'Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | TCTATTTTCCTGAAGATCTGCATGGGTGCGTGCACGCGTGTGTGTGTGTGTGTGTGTGTGTTTATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAATAGCCATTTTGAGAGGACACGTTTTTGATTCTTACCATATGCTAAAATAAAAGGATTCCAACAAGCTTTTGCCAACAGTTGACCAATTGTGGGGAATCT... | TCTATTTTCCTGAAGATCTGCATGGGTGCGTGCACGCGTGTGTGTGTGTGTGTGTGTGTGTTTATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAATAGCCATTTTGAGAGGACACGTTTTTGATTCTTACCATATGCTAAAATAAAAGGATTCCAACAAGCTTTTGCCAACAGTTGACCAATTGTGGGGAATCT... | pathogenic | 146,289 |
The genetic variant at chromosome 9, position 95249262, affecting gene FANCC (FA complementation group C): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | TGTGTGTGTGTGTGTGTGTGTGTTTATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAATAGCCATTTTGAGAGGACACGTTTTTGATTCTTACCATATGCTAAAATAAAAGGATTCCAACAAGCTTTTGCCAACAGTTGACCAATTGTGGGGAATCTTTCAATGACTGTATTAGAATCCTGTGAAAGAAAAATAA... | TGTGTGTGTGTGTGTGTGTGTGTTTATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAATAGCCATTTTGAGAGGACACGTTTTTGATTCTTACCATATGCTAAAATAAAAGGATTCCAACAAGCTTTTGCCAACAGTTGACCAATTGTGGGGAATCTTTCAATGACTGTATTAGAATCCTGTGAAAGAAAAATAA... | pathogenic | 146,297 |
Is the genetic mutation found on chromosome 9 at position 95249278, within the gene FANCC (FA complementation group C), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | TGTGTGTTTATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAATAGCCATTTTGAGAGGACACGTTTTTGATTCTTACCATATGCTAAAATAAAAGGATTCCAACAAGCTTTTGCCAACAGTTGACCAATTGTGGGGAATCTTTCAATGACTGTATTAGAATCCTGTGAAAGAAAAATAAATTTTGGTCAGTAAAG... | TGTGTGTTTATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAATAGCCATTTTGAGAGGACACGTTTTTGATTCTTACCATATGCTAAAATAAAAGGATTCCAACAAGCTTTTGCCAACAGTTGACCAATTGTGGGGAATCTTTCAATGACTGTATTAGAATCCTGTGAAAGAAAAATAAATTTTGGTCAGTAAAG... | pathogenic | 146,301 |
Does the genetic variant at chromosome 9, position 95249282, impacting gene FANCC (FA complementation group C), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Fanconi_anemia_complementation_group_C'] | TGTTTATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAATAGCCATTTTGAGAGGACACGTTTTTGATTCTTACCATATGCTAAAATAAAAGGATTCCAACAAGCTTTTGCCAACAGTTGACCAATTGTGGGGAATCTTTCAATGACTGTATTAGAATCCTGTGAAAGAAAAATAAATTTTGGTCAGTAAAGGCAT... | TGTTTATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAATAGCCATTTTGAGAGGACACGTTTTTGATTCTTACCATATGCTAAAATAAAAGGATTCCAACAAGCTTTTGCCAACAGTTGACCAATTGTGGGGAATCTTTCAATGACTGTATTAGAATCCTGTGAAAGAAAAATAAATTTTGGTCAGTAAAGGCAT... | pathogenic | 146,302 |
Chromosome 9, position 95249286, gene FANCC (FA complementation group C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_C', 'Hereditary_cancer-predisposing_syndrome'] | TATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAATAGCCATTTTGAGAGGACACGTTTTTGATTCTTACCATATGCTAAAATAAAAGGATTCCAACAAGCTTTTGCCAACAGTTGACCAATTGTGGGGAATCTTTCAATGACTGTATTAGAATCCTGTGAAAGAAAAATAAATTTTGGTCAGTAAAGGCATTATG... | TATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAATAGCCATTTTGAGAGGACACGTTTTTGATTCTTACCATATGCTAAAATAAAAGGATTCCAACAAGCTTTTGCCAACAGTTGACCAATTGTGGGGAATCTTTCAATGACTGTATTAGAATCCTGTGAAAGAAAAATAAATTTTGGTCAGTAAAGGCATTATG... | pathogenic | 146,303 |
Does the variant on chromosome 9 at location 95445728 affecting gene PTCH1 (patched 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TGGATTCATCACATATAAATTCTTTAAAAATATACTTCTGTCAAAAGACTTGATGACTACTATGTACACTACAAAAATAAATCTTCATATAAATAAATTATATGGCATACTTTTATCTTTGTAATTGAAATGACACAAACTCATTTCCACCAAAATTGGCAATGAGACCCAGTTTGAATATTTATTTCCTTTAAACTCCTTACCCTAAAACCTACCATGAGTCCTTAATGTAAATGTTATATACTCTGAACTATTTAACATTAGTAAGCACTCTATACAAATAAAAATTCTGTCCAAAAGTAAAACATAGCTGTAATGTT... | TGGATTCATCACATATAAATTCTTTAAAAATATACTTCTGTCAAAAGACTTGATGACTACTATGTACACTACAAAAATAAATCTTCATATAAATAAATTATATGGCATACTTTTATCTTTGTAATTGAAATGACACAAACTCATTTCCACCAAAATTGGCAATGAGACCCAGTTTGAATATTTATTTCCTTTAAACTCCTTACCCTAAAACCTACCATGAGTCCTTAATGTAAATGTTATATACTCTGAACTATTTAACATTAGTAAGCACTCTATACAAATAAAAATTCTGTCCAAAAGTAAAACATAGCTGTAATGTT... | benign | 146,336 |
Evaluate if the mutation on chromosome 9 at position 95449873 in PTCH1 (patched 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGCTGGCCTGAGTGCAGGACGCTGGCAGGACTGTCTCTGCCTACTCTGTCAAACACAGTAGCCGCTCCAGACATGTGGTTGCTTAAGTTTTAATGAACTAAAATCCAAAATCCAGCTCCTCGGTAGCCCCGGCCACATTTCAAGTGCTCCACAGCCACGTGTGGCCGGTGGCTCCCATCCTGGAAAGCAGAGAGGGCATTTTCGTCACTGCGGAGGGCTGTGGCGGGCAGCCTGTTCCATCTGATTGTTAAGAATCTGGTCTCTGCGTCTCTATACAAAGCACAGAGCAACACAGTGGCCACATCAATCAAAAGGACCGT... | GGCTGGCCTGAGTGCAGGACGCTGGCAGGACTGTCTCTGCCTACTCTGTCAAACACAGTAGCCGCTCCAGACATGTGGTTGCTTAAGTTTTAATGAACTAAAATCCAAAATCCAGCTCCTCGGTAGCCCCGGCCACATTTCAAGTGCTCCACAGCCACGTGTGGCCGGTGGCTCCCATCCTGGAAAGCAGAGAGGGCATTTTCGTCACTGCGGAGGGCTGTGGCGGGCAGCCTGTTCCATCTGATTGTTAAGAATCTGGTCTCTGCGTCTCTATACAAAGCACAGAGCAACACAGTGGCCACATCAATCAAAAGGACCGT... | pathogenic | 146,546 |
Chromosome 9, position 95453561, gene PTCH1 (patched 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AATTCAGGCTAAGTTTCCTCATTCAGCATCCCCCACAAGGCTGAGCGAGACCCTCCTGTAACTCATGAGACCCCAGCACACCTTGCATTTCCCCTGGTTTTGCCTGTGAACTTGTCTCTCCCCTAAAAGACCTTAGGCTACACAGAGGGATATGGGGGTCCCCATTATTTGCTGTTGTGCAAATGGCACTTATGGGGTGCTTGTTATATTTGTGTTAAACGAGAAAGTAAATATGCAAAAGAAACTCTACTTGACATTGAGCTTTTATATCATAATGATAACGTTAGTGCCTGAAAAAGTGTATACTAAGAACAAAGGAA... | AATTCAGGCTAAGTTTCCTCATTCAGCATCCCCCACAAGGCTGAGCGAGACCCTCCTGTAACTCATGAGACCCCAGCACACCTTGCATTTCCCCTGGTTTTGCCTGTGAACTTGTCTCTCCCCTAAAAGACCTTAGGCTACACAGAGGGATATGGGGGTCCCCATTATTTGCTGTTGTGCAAATGGCACTTATGGGGTGCTTGTTATATTTGTGTTAAACGAGAAAGTAAATATGCAAAAGAAACTCTACTTGACATTGAGCTTTTATATCATAATGATAACGTTAGTGCCTGAAAAAGTGTATACTAAGAACAAAGGAA... | pathogenic | 146,583 |
Located at chromosome 9 position 95458030, the variant affecting gene PTCH1 (patched 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGACAGTCAAAGTCAGGTGAGCACGGCCCTTCAAGGCCCACTCCAACACACCAACCCTGCACTGCCTACGGCTGACAGGGCCCGCTGCCATGTACCTTCCATACCCCTCTCCTTAGCCTCCCTTGAGGGAAAGGAATCCAGAAATCTTGCAGGCTCTCCTAGGGGGCCCCTGTGCCCTGAGGCCTTTTCACTGCCACGCACAGGGAGAATGCAAGGTTCCCACTTGGAGACAAACAGAGCCAGAGGAAATGGGTTGTTTTTTCACAAAGTTTTTGCTTCAAATGTCTCCCATACCAAAGCAACGTGAACGGTGAACTCCA... | TGACAGTCAAAGTCAGGTGAGCACGGCCCTTCAAGGCCCACTCCAACACACCAACCCTGCACTGCCTACGGCTGACAGGGCCCGCTGCCATGTACCTTCCATACCCCTCTCCTTAGCCTCCCTTGAGGGAAAGGAATCCAGAAATCTTGCAGGCTCTCCTAGGGGGCCCCTGTGCCCTGAGGCCTTTTCACTGCCACGCACAGGGAGAATGCAAGGTTCCCACTTGGAGACAAACAGAGCCAGAGGAAATGGGTTGTTTTTTCACAAAGTTTTTGCTTCAAATGTCTCCCATACCAAAGCAACGTGAACGGTGAACTCCA... | pathogenic | 146,632 |
Regarding the variant found on chromosome 9 at position 95458038 in gene PTCH1 (patched 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAGTCAGGTGAGCACGGCCCTTCAAGGCCCACTCCAACACACCAACCCTGCACTGCCTACGGCTGACAGGGCCCGCTGCCATGTACCTTCCATACCCCTCTCCTTAGCCTCCCTTGAGGGAAAGGAATCCAGAAATCTTGCAGGCTCTCCTAGGGGGCCCCTGTGCCCTGAGGCCTTTTCACTGCCACGCACAGGGAGAATGCAAGGTTCCCACTTGGAGACAAACAGAGCCAGAGGAAATGGGTTGTTTTTTCACAAAGTTTTTGCTTCAAATGTCTCCCATACCAAAGCAACGTGAACGGTGAACTCCACTCCTATG... | AAAGTCAGGTGAGCACGGCCCTTCAAGGCCCACTCCAACACACCAACCCTGCACTGCCTACGGCTGACAGGGCCCGCTGCCATGTACCTTCCATACCCCTCTCCTTAGCCTCCCTTGAGGGAAAGGAATCCAGAAATCTTGCAGGCTCTCCTAGGGGGCCCCTGTGCCCTGAGGCCTTTTCACTGCCACGCACAGGGAGAATGCAAGGTTCCCACTTGGAGACAAACAGAGCCAGAGGAAATGGGTTGTTTTTTCACAAAGTTTTTGCTTCAAATGTCTCCCATACCAAAGCAACGTGAACGGTGAACTCCACTCCTATG... | pathogenic | 146,634 |
Evaluate if the mutation on chromosome 9 at position 95458138 in PTCH1 (patched 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Gorlin_syndrome'] | CTCCTTAGCCTCCCTTGAGGGAAAGGAATCCAGAAATCTTGCAGGCTCTCCTAGGGGGCCCCTGTGCCCTGAGGCCTTTTCACTGCCACGCACAGGGAGAATGCAAGGTTCCCACTTGGAGACAAACAGAGCCAGAGGAAATGGGTTGTTTTTTCACAAAGTTTTTGCTTCAAATGTCTCCCATACCAAAGCAACGTGAACGGTGAACTCCACTCCTATGCCAACAGAAGCGATCAGGATGACCACGGGCACGGCACTGAGCTTGATTCCGATGAGGCCCATCATGCCGAACAGCTCGACCGTCATCAGCGCCAGGACCA... | CTCCTTAGCCTCCCTTGAGGGAAAGGAATCCAGAAATCTTGCAGGCTCTCCTAGGGGGCCCCTGTGCCCTGAGGCCTTTTCACTGCCACGCACAGGGAGAATGCAAGGTTCCCACTTGGAGACAAACAGAGCCAGAGGAAATGGGTTGTTTTTTCACAAAGTTTTTGCTTCAAATGTCTCCCATACCAAAGCAACGTGAACGGTGAACTCCACTCCTATGCCAACAGAAGCGATCAGGATGACCACGGGCACGGCACTGAGCTTGATTCCGATGAGGCCCATCATGCCGAACAGCTCGACCGTCATCAGCGCCAGGACCA... | pathogenic | 146,655 |
Does the chromosome 9 mutation at position 95459637 within gene PTCH1 (patched 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCATATATCACTCTCCTAACTTCTCTGATTGTCCCTTCATGTTAAATGCAGAAGAACCTGCTATGTCGTTATTAGGCCTGGATGAGGTCACAAAATGACACTTTTCAATTAAAGAAAAAATGAGCTAGGCTTTGAGTGTTTTGATTTAATAAATGTTCAGAGCTGTGATGGAAGGTGTGCTTTAAAAAGTCCCCTATCTTTCCACAAAAATCTTCAAGCTACAGGAGAGAGGACCTACGAATAAGGCCATTAGAGGTTCTACCTTAACCATGGACCTCACCACCTCGAGTAGAATAAACATATTACGGATGATGCAAGCT... | CCATATATCACTCTCCTAACTTCTCTGATTGTCCCTTCATGTTAAATGCAGAAGAACCTGCTATGTCGTTATTAGGCCTGGATGAGGTCACAAAATGACACTTTTCAATTAAAGAAAAAATGAGCTAGGCTTTGAGTGTTTTGATTTAATAAATGTTCAGAGCTGTGATGGAAGGTGTGCTTTAAAAAGTCCCCTATCTTTCCACAAAAATCTTCAAGCTACAGGAGAGAGGACCTACGAATAAGGCCATTAGAGGTTCTACCTTAACCATGGACCTCACCACCTCGAGTAGAATAAACATATTACGGATGATGCAAGCT... | pathogenic | 146,690 |
Variant chromosome 9, position 95467134, gene PTCH1: benign or pathogenic? Disease(s)? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAAAAAAAACTCAACTCCAGCTGATTTACATCTATAAAGGAAGAAACGTATAGAGATGATCTACAATGCTCTATAAAAAGGTTAACCCTTTGCACTGCCTCGAGACAATCCCCCTTTACCCCCTTCCCAATCCCTGCCTAACATGCCACATTGAGCCTCCAGAGCAATGGCCAAAGACACTGAAATACACTCTACAATAACCCTTCTCTGCTCACAGACTGGCAGGGCACAGCAGATCTCTTTGTCATTTGTGGCAAGTTATTTATATGTCTTTGGTCAATGGGGGGAAAATGAAAGCAGGGACTCTCTCCACTGTCTC... | AAAAAAAAAACTCAACTCCAGCTGATTTACATCTATAAAGGAAGAAACGTATAGAGATGATCTACAATGCTCTATAAAAAGGTTAACCCTTTGCACTGCCTCGAGACAATCCCCCTTTACCCCCTTCCCAATCCCTGCCTAACATGCCACATTGAGCCTCCAGAGCAATGGCCAAAGACACTGAAATACACTCTACAATAACCCTTCTCTGCTCACAGACTGGCAGGGCACAGCAGATCTCTTTGTCATTTGTGGCAAGTTATTTATATGTCTTTGGTCAATGGGGGGAAAATGAAAGCAGGGACTCTCTCCACTGTCTC... | pathogenic | 146,750 |
Is the chromosome 9, position 95467159 variant in PTCH1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Gorlin_syndrome'] | TTTACATCTATAAAGGAAGAAACGTATAGAGATGATCTACAATGCTCTATAAAAAGGTTAACCCTTTGCACTGCCTCGAGACAATCCCCCTTTACCCCCTTCCCAATCCCTGCCTAACATGCCACATTGAGCCTCCAGAGCAATGGCCAAAGACACTGAAATACACTCTACAATAACCCTTCTCTGCTCACAGACTGGCAGGGCACAGCAGATCTCTTTGTCATTTGTGGCAAGTTATTTATATGTCTTTGGTCAATGGGGGGAAAATGAAAGCAGGGACTCTCTCCACTGTCTCTCTTTTAACTCATTATCCCAAAAAC... | TTTACATCTATAAAGGAAGAAACGTATAGAGATGATCTACAATGCTCTATAAAAAGGTTAACCCTTTGCACTGCCTCGAGACAATCCCCCTTTACCCCCTTCCCAATCCCTGCCTAACATGCCACATTGAGCCTCCAGAGCAATGGCCAAAGACACTGAAATACACTCTACAATAACCCTTCTCTGCTCACAGACTGGCAGGGCACAGCAGATCTCTTTGTCATTTGTGGCAAGTTATTTATATGTCTTTGGTCAATGGGGGGAAAATGAAAGCAGGGACTCTCTCCACTGTCTCTCTTTTAACTCATTATCCCAAAAAC... | pathogenic | 146,753 |
Does the chromosome 9 mutation at position 95467229 within gene PTCH1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Basal_cell_nevus_syndrome_1', 'Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'PTCH1-related_disorder'] | CTGCCTCGAGACAATCCCCCTTTACCCCCTTCCCAATCCCTGCCTAACATGCCACATTGAGCCTCCAGAGCAATGGCCAAAGACACTGAAATACACTCTACAATAACCCTTCTCTGCTCACAGACTGGCAGGGCACAGCAGATCTCTTTGTCATTTGTGGCAAGTTATTTATATGTCTTTGGTCAATGGGGGGAAAATGAAAGCAGGGACTCTCTCCACTGTCTCTCTTTTAACTCATTATCCCAAAAACCATTGCTTTCTAAACTAAATGTGAAAAATAAAACTTGGAACAAATTCACGTTCGTCTCAGGAGGGTGTTA... | CTGCCTCGAGACAATCCCCCTTTACCCCCTTCCCAATCCCTGCCTAACATGCCACATTGAGCCTCCAGAGCAATGGCCAAAGACACTGAAATACACTCTACAATAACCCTTCTCTGCTCACAGACTGGCAGGGCACAGCAGATCTCTTTGTCATTTGTGGCAAGTTATTTATATGTCTTTGGTCAATGGGGGGAAAATGAAAGCAGGGACTCTCTCCACTGTCTCTCTTTTAACTCATTATCCCAAAAACCATTGCTTTCTAAACTAAATGTGAAAAATAAAACTTGGAACAAATTCACGTTCGTCTCAGGAGGGTGTTA... | pathogenic | 146,768 |
A genetic alteration at chromosome 9, position 95467237, in gene PTCH1—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGACAATCCCCCTTTACCCCCTTCCCAATCCCTGCCTAACATGCCACATTGAGCCTCCAGAGCAATGGCCAAAGACACTGAAATACACTCTACAATAACCCTTCTCTGCTCACAGACTGGCAGGGCACAGCAGATCTCTTTGTCATTTGTGGCAAGTTATTTATATGTCTTTGGTCAATGGGGGGAAAATGAAAGCAGGGACTCTCTCCACTGTCTCTCTTTTAACTCATTATCCCAAAAACCATTGCTTTCTAAACTAAATGTGAAAAATAAAACTTGGAACAAATTCACGTTCGTCTCAGGAGGGTGTTAATAAATAA... | AGACAATCCCCCTTTACCCCCTTCCCAATCCCTGCCTAACATGCCACATTGAGCCTCCAGAGCAATGGCCAAAGACACTGAAATACACTCTACAATAACCCTTCTCTGCTCACAGACTGGCAGGGCACAGCAGATCTCTTTGTCATTTGTGGCAAGTTATTTATATGTCTTTGGTCAATGGGGGGAAAATGAAAGCAGGGACTCTCTCCACTGTCTCTCTTTTAACTCATTATCCCAAAAACCATTGCTTTCTAAACTAAATGTGAAAAATAAAACTTGGAACAAATTCACGTTCGTCTCAGGAGGGTGTTAATAAATAA... | pathogenic | 146,771 |
Mutation found at chromosome 9 position 95467343, gene PTCH1: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Gorlin_syndrome'] | TGCTCACAGACTGGCAGGGCACAGCAGATCTCTTTGTCATTTGTGGCAAGTTATTTATATGTCTTTGGTCAATGGGGGGAAAATGAAAGCAGGGACTCTCTCCACTGTCTCTCTTTTAACTCATTATCCCAAAAACCATTGCTTTCTAAACTAAATGTGAAAAATAAAACTTGGAACAAATTCACGTTCGTCTCAGGAGGGTGTTAATAAATAATAATCATGGCATGTTCTCTGTACCTTCCTCCAAAAGGAAAGTCAAATTGGGTGTACATGTAGACACAAAGTTCTGGTAAACACAAGTCAAGGCCAGAAGCTGTATG... | TGCTCACAGACTGGCAGGGCACAGCAGATCTCTTTGTCATTTGTGGCAAGTTATTTATATGTCTTTGGTCAATGGGGGGAAAATGAAAGCAGGGACTCTCTCCACTGTCTCTCTTTTAACTCATTATCCCAAAAACCATTGCTTTCTAAACTAAATGTGAAAAATAAAACTTGGAACAAATTCACGTTCGTCTCAGGAGGGTGTTAATAAATAATAATCATGGCATGTTCTCTGTACCTTCCTCCAAAAGGAAAGTCAAATTGGGTGTACATGTAGACACAAAGTTCTGGTAAACACAAGTCAAGGCCAGAAGCTGTATG... | pathogenic | 146,787 |
Mutation at chromosome 9, position 95467388, within PTCH1: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Basal_cell_nevus_syndrome_1', 'Gorlin_syndrome'] | GCAAGTTATTTATATGTCTTTGGTCAATGGGGGGAAAATGAAAGCAGGGACTCTCTCCACTGTCTCTCTTTTAACTCATTATCCCAAAAACCATTGCTTTCTAAACTAAATGTGAAAAATAAAACTTGGAACAAATTCACGTTCGTCTCAGGAGGGTGTTAATAAATAATAATCATGGCATGTTCTCTGTACCTTCCTCCAAAAGGAAAGTCAAATTGGGTGTACATGTAGACACAAAGTTCTGGTAAACACAAGTCAAGGCCAGAAGCTGTATGGAACCATCCTCTACCAACCTCAAGTTGTTGACCATTTCCTGCAAA... | GCAAGTTATTTATATGTCTTTGGTCAATGGGGGGAAAATGAAAGCAGGGACTCTCTCCACTGTCTCTCTTTTAACTCATTATCCCAAAAACCATTGCTTTCTAAACTAAATGTGAAAAATAAAACTTGGAACAAATTCACGTTCGTCTCAGGAGGGTGTTAATAAATAATAATCATGGCATGTTCTCTGTACCTTCCTCCAAAAGGAAAGTCAAATTGGGTGTACATGTAGACACAAAGTTCTGGTAAACACAAGTCAAGGCCAGAAGCTGTATGGAACCATCCTCTACCAACCTCAAGTTGTTGACCATTTCCTGCAAA... | pathogenic | 146,793 |
A genetic variant at chromosome 9, position 95467388, affecting gene PTCH1—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Gorlin_syndrome'] | GCAAGTTATTTATATGTCTTTGGTCAATGGGGGGAAAATGAAAGCAGGGACTCTCTCCACTGTCTCTCTTTTAACTCATTATCCCAAAAACCATTGCTTTCTAAACTAAATGTGAAAAATAAAACTTGGAACAAATTCACGTTCGTCTCAGGAGGGTGTTAATAAATAATAATCATGGCATGTTCTCTGTACCTTCCTCCAAAAGGAAAGTCAAATTGGGTGTACATGTAGACACAAAGTTCTGGTAAACACAAGTCAAGGCCAGAAGCTGTATGGAACCATCCTCTACCAACCTCAAGTTGTTGACCATTTCCTGCAAA... | GCAAGTTATTTATATGTCTTTGGTCAATGGGGGGAAAATGAAAGCAGGGACTCTCTCCACTGTCTCTCTTTTAACTCATTATCCCAAAAACCATTGCTTTCTAAACTAAATGTGAAAAATAAAACTTGGAACAAATTCACGTTCGTCTCAGGAGGGTGTTAATAAATAATAATCATGGCATGTTCTCTGTACCTTCCTCCAAAAGGAAAGTCAAATTGGGTGTACATGTAGACACAAAGTTCTGGTAAACACAAGTCAAGGCCAGAAGCTGTATGGAACCATCCTCTACCAACCTCAAGTTGTTGACCATTTCCTGCAAA... | pathogenic | 146,794 |
Variant in PTCH1, chromosome 9, position 95468756—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Gorlin_syndrome', 'Medulloblastoma'] | TATCTAGCATCTCCTGGTGCAGTAAGCTATAATTTGGCAATCAGTCTGGAAATCCCAGCCGCACTTTGATTTTATGTGGTCACCAAACTAGCCACCGTCTATCCAAGAGGAAAGAGCACCAGAAGCCTCGGCTCCACCTGTTACAACATGCTCCCCTTTTCCTGACGTGCACTTGTACATTCTCACAGAAGCTCATCTGAATTATCTGCATCATTTTATAGGTAAAAGCCAGATCTGGGAGGCTGCTGCAGAAACAGTTCATGTAAGAATCTTGAGCAACTCTTAAAAGTCCATGAAACACGTCAGTGTTACATTCTAAT... | TATCTAGCATCTCCTGGTGCAGTAAGCTATAATTTGGCAATCAGTCTGGAAATCCCAGCCGCACTTTGATTTTATGTGGTCACCAAACTAGCCACCGTCTATCCAAGAGGAAAGAGCACCAGAAGCCTCGGCTCCACCTGTTACAACATGCTCCCCTTTTCCTGACGTGCACTTGTACATTCTCACAGAAGCTCATCTGAATTATCTGCATCATTTTATAGGTAAAAGCCAGATCTGGGAGGCTGCTGCAGAAACAGTTCATGTAAGAATCTTGAGCAACTCTTAAAAGTCCATGAAACACGTCAGTGTTACATTCTAAT... | pathogenic | 146,806 |
Assess the variant on chromosome 9, position 95468802, impacting PTCH1: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGGAAATCCCAGCCGCACTTTGATTTTATGTGGTCACCAAACTAGCCACCGTCTATCCAAGAGGAAAGAGCACCAGAAGCCTCGGCTCCACCTGTTACAACATGCTCCCCTTTTCCTGACGTGCACTTGTACATTCTCACAGAAGCTCATCTGAATTATCTGCATCATTTTATAGGTAAAAGCCAGATCTGGGAGGCTGCTGCAGAAACAGTTCATGTAAGAATCTTGAGCAACTCTTAAAAGTCCATGAAACACGTCAGTGTTACATTCTAATCTAACGCTCTCATAATCATGACAAAGGAACCTGTTGAAGCTGAACA... | TGGAAATCCCAGCCGCACTTTGATTTTATGTGGTCACCAAACTAGCCACCGTCTATCCAAGAGGAAAGAGCACCAGAAGCCTCGGCTCCACCTGTTACAACATGCTCCCCTTTTCCTGACGTGCACTTGTACATTCTCACAGAAGCTCATCTGAATTATCTGCATCATTTTATAGGTAAAAGCCAGATCTGGGAGGCTGCTGCAGAAACAGTTCATGTAAGAATCTTGAGCAACTCTTAAAAGTCCATGAAACACGTCAGTGTTACATTCTAATCTAACGCTCTCATAATCATGACAAAGGAACCTGTTGAAGCTGAACA... | pathogenic | 146,814 |
Assess the variant on chromosome 9, position 95468821, impacting PTCH1: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Gorlin_syndrome'] | TTGATTTTATGTGGTCACCAAACTAGCCACCGTCTATCCAAGAGGAAAGAGCACCAGAAGCCTCGGCTCCACCTGTTACAACATGCTCCCCTTTTCCTGACGTGCACTTGTACATTCTCACAGAAGCTCATCTGAATTATCTGCATCATTTTATAGGTAAAAGCCAGATCTGGGAGGCTGCTGCAGAAACAGTTCATGTAAGAATCTTGAGCAACTCTTAAAAGTCCATGAAACACGTCAGTGTTACATTCTAATCTAACGCTCTCATAATCATGACAAAGGAACCTGTTGAAGCTGAACACGCAAAAGACCGAAAGGAC... | TTGATTTTATGTGGTCACCAAACTAGCCACCGTCTATCCAAGAGGAAAGAGCACCAGAAGCCTCGGCTCCACCTGTTACAACATGCTCCCCTTTTCCTGACGTGCACTTGTACATTCTCACAGAAGCTCATCTGAATTATCTGCATCATTTTATAGGTAAAAGCCAGATCTGGGAGGCTGCTGCAGAAACAGTTCATGTAAGAATCTTGAGCAACTCTTAAAAGTCCATGAAACACGTCAGTGTTACATTCTAATCTAACGCTCTCATAATCATGACAAAGGAACCTGTTGAAGCTGAACACGCAAAAGACCGAAAGGAC... | pathogenic | 146,822 |
A genetic variant on chromosome 9, position 95468822, affects the gene PTCH1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGATTTTATGTGGTCACCAAACTAGCCACCGTCTATCCAAGAGGAAAGAGCACCAGAAGCCTCGGCTCCACCTGTTACAACATGCTCCCCTTTTCCTGACGTGCACTTGTACATTCTCACAGAAGCTCATCTGAATTATCTGCATCATTTTATAGGTAAAAGCCAGATCTGGGAGGCTGCTGCAGAAACAGTTCATGTAAGAATCTTGAGCAACTCTTAAAAGTCCATGAAACACGTCAGTGTTACATTCTAATCTAACGCTCTCATAATCATGACAAAGGAACCTGTTGAAGCTGAACACGCAAAAGACCGAAAGGACG... | TGATTTTATGTGGTCACCAAACTAGCCACCGTCTATCCAAGAGGAAAGAGCACCAGAAGCCTCGGCTCCACCTGTTACAACATGCTCCCCTTTTCCTGACGTGCACTTGTACATTCTCACAGAAGCTCATCTGAATTATCTGCATCATTTTATAGGTAAAAGCCAGATCTGGGAGGCTGCTGCAGAAACAGTTCATGTAAGAATCTTGAGCAACTCTTAAAAGTCCATGAAACACGTCAGTGTTACATTCTAATCTAACGCTCTCATAATCATGACAAAGGAACCTGTTGAAGCTGAACACGCAAAAGACCGAAAGGACG... | pathogenic | 146,823 |
Variant in PTCH1, chromosome 9, position 95468989—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Basal_cell_nevus_syndrome_1', 'Gorlin_syndrome'] | TCTGGGAGGCTGCTGCAGAAACAGTTCATGTAAGAATCTTGAGCAACTCTTAAAAGTCCATGAAACACGTCAGTGTTACATTCTAATCTAACGCTCTCATAATCATGACAAAGGAACCTGTTGAAGCTGAACACGCAAAAGACCGAAAGGACGAGAGCCTCCCACGCCGTCTTACCCTGAAGCCAGTCTCTGAAGTAGTGCAGCCACATTTTGGGAAGCTGTTTGTTTTCTTCCAACATGACATACTTCACGTTACTGAAACTCCTGTGTAGGTCGTAAAGTAAGTGCTGGATATTCGGGTAGTCTGCTTTCTGGGTGAC... | TCTGGGAGGCTGCTGCAGAAACAGTTCATGTAAGAATCTTGAGCAACTCTTAAAAGTCCATGAAACACGTCAGTGTTACATTCTAATCTAACGCTCTCATAATCATGACAAAGGAACCTGTTGAAGCTGAACACGCAAAAGACCGAAAGGACGAGAGCCTCCCACGCCGTCTTACCCTGAAGCCAGTCTCTGAAGTAGTGCAGCCACATTTTGGGAAGCTGTTTGTTTTCTTCCAACATGACATACTTCACGTTACTGAAACTCCTGTGTAGGTCGTAAAGTAAGTGCTGGATATTCGGGTAGTCTGCTTTCTGGGTGAC... | pathogenic | 146,858 |
Determine if the mutation at chromosome 9, position 95469106 in gene PTCH1 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTGTTGAAGCTGAACACGCAAAAGACCGAAAGGACGAGAGCCTCCCACGCCGTCTTACCCTGAAGCCAGTCTCTGAAGTAGTGCAGCCACATTTTGGGAAGCTGTTTGTTTTCTTCCAACATGACATACTTCACGTTACTGAAACTCCTGTGTAGGTCGTAAAGTAAGTGCTGGATATTCGGGTAGTCTGCTTTCTGGGTGACTATATACATGTTGTAGAAAGAAAAGTATTTGAATTGTGCAGCAATAAAGTCATATTCTCTGGTTTCCCGAGGTACAATGTCCGTAAGGTCCAGCCCGTCTCTCACTCGGGTGGTGCC... | CTGTTGAAGCTGAACACGCAAAAGACCGAAAGGACGAGAGCCTCCCACGCCGTCTTACCCTGAAGCCAGTCTCTGAAGTAGTGCAGCCACATTTTGGGAAGCTGTTTGTTTTCTTCCAACATGACATACTTCACGTTACTGAAACTCCTGTGTAGGTCGTAAAGTAAGTGCTGGATATTCGGGTAGTCTGCTTTCTGGGTGACTATATACATGTTGTAGAAAGAAAAGTATTTGAATTGTGCAGCAATAAAGTCATATTCTCTGGTTTCCCGAGGTACAATGTCCGTAAGGTCCAGCCCGTCTCTCACTCGGGTGGTGCC... | pathogenic | 146,878 |
Determine if the mutation at chromosome 9, position 95469941 in gene PTCH1 is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CACCATGCCCAGCCTTGTTTTGTTATGTATCTGAGTTGGGATCTCACTCTGTCTCCCAGGATGGAGTGCAGTGGCATGATCAGGGCTCACTGTTGCCTCCAACTCCTGGGCTCAAATGATCCTCCTGTCTCAGCTGCCCAAGTAGCTAGGACTACAGGTACACAGCACCATGCCTTTTTTCCCCCTCTCTTTTGAGACAGGGTCTTACTCTGTCACCCAGGCTTGAATGAAGTGGCACCATCACGGCTCACTGTAGCCTCGACTCCCTGGGCTCAGTGACCCTCCCACCTCAGCCTCCTAAGCAGCTGGGACTATAGGCA... | CACCATGCCCAGCCTTGTTTTGTTATGTATCTGAGTTGGGATCTCACTCTGTCTCCCAGGATGGAGTGCAGTGGCATGATCAGGGCTCACTGTTGCCTCCAACTCCTGGGCTCAAATGATCCTCCTGTCTCAGCTGCCCAAGTAGCTAGGACTACAGGTACACAGCACCATGCCTTTTTTCCCCCTCTCTTTTGAGACAGGGTCTTACTCTGTCACCCAGGCTTGAATGAAGTGGCACCATCACGGCTCACTGTAGCCTCGACTCCCTGGGCTCAGTGACCCTCCCACCTCAGCCTCCTAAGCAGCTGGGACTATAGGCA... | benign | 146,898 |
Gene PTCH1 (patched 1) variant at chromosome 9, position 95476146—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Gorlin_syndrome'] | GGGTATCATTAAAGGAGAGTCGGCCTCGATGAGCCATCAGTATGTACTAAGAGAGGAGAGGAGAGAATGAGAGAGAAAAGAAGAAAAGAAGGAGTATGAGCAGATACAGAAAGACAGTGAGCAAAAAGGCAAGCAGAAAAGAAGGGGAGAGGAGAGAGAATGGGCAGACAGGGTCCCATGACTAAAAGACTCTAGAACAGTTTCTCAATACCAGCACCGGCTGCACGTGAAATGAGACTGGGGTACCACAGGGTGCTGAGCAGACACACACCTGCGCACAAAGGCATTCTACAACTTCAGCTGCACTGCGAGTCTGGTTC... | GGGTATCATTAAAGGAGAGTCGGCCTCGATGAGCCATCAGTATGTACTAAGAGAGGAGAGGAGAGAATGAGAGAGAAAAGAAGAAAAGAAGGAGTATGAGCAGATACAGAAAGACAGTGAGCAAAAAGGCAAGCAGAAAAGAAGGGGAGAGGAGAGAGAATGGGCAGACAGGGTCCCATGACTAAAAGACTCTAGAACAGTTTCTCAATACCAGCACCGGCTGCACGTGAAATGAGACTGGGGTACCACAGGGTGCTGAGCAGACACACACCTGCGCACAAAGGCATTCTACAACTTCAGCTGCACTGCGAGTCTGGTTC... | pathogenic | 146,925 |
The genetic variant at chromosome 9, position 95476741, affecting gene PTCH1 (patched 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | GTTACTAGCGAAATGACATTCAAATACGTGATTGATTGGTTCCTCTTACATGACAAATGGAAAGACTAGGAAAGAGCTAAACATATTGACAAAATATAAACAGAAACCAGATGCAAGACTGGTCAATTTCTCTTCCTGCTCGCATCTGCAGGAACTCTTGGTGAGTAGAGTAAAGCTGTGTGAGTGTGCCGGGCATCCTAACAACAAGTGAAAAAGTGACACAGAAGTCATTTCCTTTAACAACCTGGCCAGCTTGAGAATTAGACATCATATCATCACAGAGAAAGAAAGGGGAAACAATTGAGGTTTTGAAATTTGAA... | GTTACTAGCGAAATGACATTCAAATACGTGATTGATTGGTTCCTCTTACATGACAAATGGAAAGACTAGGAAAGAGCTAAACATATTGACAAAATATAAACAGAAACCAGATGCAAGACTGGTCAATTTCTCTTCCTGCTCGCATCTGCAGGAACTCTTGGTGAGTAGAGTAAAGCTGTGTGAGTGTGCCGGGCATCCTAACAACAAGTGAAAAAGTGACACAGAAGTCATTTCCTTTAACAACCTGGCCAGCTTGAGAATTAGACATCATATCATCACAGAGAAAGAAAGGGGAAACAATTGAGGTTTTGAAATTTGAA... | benign | 146,931 |
Located at chromosome 9 position 95476859, the variant affecting gene PTCH1 (patched 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CTGGTCAATTTCTCTTCCTGCTCGCATCTGCAGGAACTCTTGGTGAGTAGAGTAAAGCTGTGTGAGTGTGCCGGGCATCCTAACAACAAGTGAAAAAGTGACACAGAAGTCATTTCCTTTAACAACCTGGCCAGCTTGAGAATTAGACATCATATCATCACAGAGAAAGAAAGGGGAAACAATTGAGGTTTTGAAATTTGAAATTAATTCACAAAACCCCCACAACATCTTGAGATATCAAAACTCCAGGCCACTTTGCGCTCAGGAAGACCATGGCACAAACTGGTGAAGTCTCTGCTTTACTGGCTGCAGTAACTAAT... | CTGGTCAATTTCTCTTCCTGCTCGCATCTGCAGGAACTCTTGGTGAGTAGAGTAAAGCTGTGTGAGTGTGCCGGGCATCCTAACAACAAGTGAAAAAGTGACACAGAAGTCATTTCCTTTAACAACCTGGCCAGCTTGAGAATTAGACATCATATCATCACAGAGAAAGAAAGGGGAAACAATTGAGGTTTTGAAATTTGAAATTAATTCACAAAACCCCCACAACATCTTGAGATATCAAAACTCCAGGCCACTTTGCGCTCAGGAAGACCATGGCACAAACTGGTGAAGTCTCTGCTTTACTGGCTGCAGTAACTAAT... | benign | 146,946 |
Variant at chromosome position 95478060, chromosome 9, gene PTCH1 (patched 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCCTTCATCACCAGAAGCTCACCTGGAGGGAGAACGCCCGCAGAGCGGGAATTGGGATTAACGCGGCCATGAAGAAGGCTGTGACATTGCTGATGGACGTGAGGGCCACGCTGGCTCCTGTGCGCTTCAGGCACTCCCCGGTCCTGTCCTGGGAATAAAAAAACACAGCGCTGAGAGCTGCACTGGACATGGTCCCCTTGGAGCACAGACTGTGTGAGCAGATACGTGGCAGAATAACACAACTGTTATTACAGCTTATCATGCTGGCATTAGGGAAACAGAGCCACCTGCCTTACCCCCTAACACCAGCATTATTCAGT... | GCCTTCATCACCAGAAGCTCACCTGGAGGGAGAACGCCCGCAGAGCGGGAATTGGGATTAACGCGGCCATGAAGAAGGCTGTGACATTGCTGATGGACGTGAGGGCCACGCTGGCTCCTGTGCGCTTCAGGCACTCCCCGGTCCTGTCCTGGGAATAAAAAAACACAGCGCTGAGAGCTGCACTGGACATGGTCCCCTTGGAGCACAGACTGTGTGAGCAGATACGTGGCAGAATAACACAACTGTTATTACAGCTTATCATGCTGGCATTAGGGAAACAGAGCCACCTGCCTTACCCCCTAACACCAGCATTATTCAGT... | pathogenic | 146,989 |
The mutation in gene PTCH1 (patched 1) at chromosome 9, position 95478067—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCACCAGAAGCTCACCTGGAGGGAGAACGCCCGCAGAGCGGGAATTGGGATTAACGCGGCCATGAAGAAGGCTGTGACATTGCTGATGGACGTGAGGGCCACGCTGGCTCCTGTGCGCTTCAGGCACTCCCCGGTCCTGTCCTGGGAATAAAAAAACACAGCGCTGAGAGCTGCACTGGACATGGTCCCCTTGGAGCACAGACTGTGTGAGCAGATACGTGGCAGAATAACACAACTGTTATTACAGCTTATCATGCTGGCATTAGGGAAACAGAGCCACCTGCCTTACCCCCTAACACCAGCATTATTCAGTACCATCT... | TCACCAGAAGCTCACCTGGAGGGAGAACGCCCGCAGAGCGGGAATTGGGATTAACGCGGCCATGAAGAAGGCTGTGACATTGCTGATGGACGTGAGGGCCACGCTGGCTCCTGTGCGCTTCAGGCACTCCCCGGTCCTGTCCTGGGAATAAAAAAACACAGCGCTGAGAGCTGCACTGGACATGGTCCCCTTGGAGCACAGACTGTGTGAGCAGATACGTGGCAGAATAACACAACTGTTATTACAGCTTATCATGCTGGCATTAGGGAAACAGAGCCACCTGCCTTACCCCCTAACACCAGCATTATTCAGTACCATCT... | pathogenic | 146,991 |
Clinical significance of chromosome 9, position 95478098, gene PTCH1 (patched 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CGCAGAGCGGGAATTGGGATTAACGCGGCCATGAAGAAGGCTGTGACATTGCTGATGGACGTGAGGGCCACGCTGGCTCCTGTGCGCTTCAGGCACTCCCCGGTCCTGTCCTGGGAATAAAAAAACACAGCGCTGAGAGCTGCACTGGACATGGTCCCCTTGGAGCACAGACTGTGTGAGCAGATACGTGGCAGAATAACACAACTGTTATTACAGCTTATCATGCTGGCATTAGGGAAACAGAGCCACCTGCCTTACCCCCTAACACCAGCATTATTCAGTACCATCTACAGAGTCATCAATTCTTCATGGTTATTACC... | CGCAGAGCGGGAATTGGGATTAACGCGGCCATGAAGAAGGCTGTGACATTGCTGATGGACGTGAGGGCCACGCTGGCTCCTGTGCGCTTCAGGCACTCCCCGGTCCTGTCCTGGGAATAAAAAAACACAGCGCTGAGAGCTGCACTGGACATGGTCCCCTTGGAGCACAGACTGTGTGAGCAGATACGTGGCAGAATAACACAACTGTTATTACAGCTTATCATGCTGGCATTAGGGAAACAGAGCCACCTGCCTTACCCCCTAACACCAGCATTATTCAGTACCATCTACAGAGTCATCAATTCTTCATGGTTATTACC... | pathogenic | 146,998 |
Determine whether the variant at chromosome 9, position 95479005, in gene PTCH1 (patched 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Basal_cell_carcinoma,_susceptibility_to,_1', 'Basal_cell_nevus_syndrome_1', 'Gorlin_syndrome', 'Holoprosencephaly_7'] | TGAAGCAGGGCTTCCGTAACCTCATGGTGAAGAATTCACTTGACGTCCCAAAGCCTAGCCATTTCAGCTCACAGGAGATCCTGCACGTTTCTACTTCGAAAGTCAGTGTACTATCATTTTTTAAGCTAGTAAATGAGAAGGAATCCAACTCATTTAAGCAATGATTGGCAGAGTGTGGCCCATGGACCAGCATCACTGGGAATTGCCCTGAAGTGCACATTCTCAGCCCCGGCCCCAGACTTACTGAGAAACTCTGGGGGTGGGGCCTGGCAATCGGAGCTTTCACAAGCCCTGCAAGCCATGCAAATGCCCACCAGAGC... | TGAAGCAGGGCTTCCGTAACCTCATGGTGAAGAATTCACTTGACGTCCCAAAGCCTAGCCATTTCAGCTCACAGGAGATCCTGCACGTTTCTACTTCGAAAGTCAGTGTACTATCATTTTTTAAGCTAGTAAATGAGAAGGAATCCAACTCATTTAAGCAATGATTGGCAGAGTGTGGCCCATGGACCAGCATCACTGGGAATTGCCCTGAAGTGCACATTCTCAGCCCCGGCCCCAGACTTACTGAGAAACTCTGGGGGTGGGGCCTGGCAATCGGAGCTTTCACAAGCCCTGCAAGCCATGCAAATGCCCACCAGAGC... | pathogenic | 147,026 |
Determine whether the variant at chromosome 9, position 95480080, in gene PTCH1 (patched 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Gorlin_syndrome'] | AGGAGCATGGCATCGAGCGTTACCATGAGTAAGTAGCCGCTGGCCACGCGGATGACACTGACGTCAGAGAAGGATTTCAGGATGTCGTCCAGGGTCGTGGTGGTGAAGGAAAGCACCTTTTGAGTGGAGTTCTGTGCGACACTCTGATGAACCACCTGTGGTCACAACAGAATGCGAAATGCCCAAATGCAATGAACACTTCCACAAGCCTCGACAGCACAGATCTCAGGTGACACAGCGCAGCCCTTCTTTTTTTCTGATGCATTTTTTAAAAAAGTTCTACGTGATTCCAGGGCAGGGAGAGAAGCTGAAGTTGGGCT... | AGGAGCATGGCATCGAGCGTTACCATGAGTAAGTAGCCGCTGGCCACGCGGATGACACTGACGTCAGAGAAGGATTTCAGGATGTCGTCCAGGGTCGTGGTGGTGAAGGAAAGCACCTTTTGAGTGGAGTTCTGTGCGACACTCTGATGAACCACCTGTGGTCACAACAGAATGCGAAATGCCCAAATGCAATGAACACTTCCACAAGCCTCGACAGCACAGATCTCAGGTGACACAGCGCAGCCCTTCTTTTTTTCTGATGCATTTTTTAAAAAAGTTCTACGTGATTCCAGGGCAGGGAGAGAAGCTGAAGTTGGGCT... | pathogenic | 147,069 |
The mutation in gene PTCH1 (patched 1) at chromosome 9, position 95480102—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCATGAGTAAGTAGCCGCTGGCCACGCGGATGACACTGACGTCAGAGAAGGATTTCAGGATGTCGTCCAGGGTCGTGGTGGTGAAGGAAAGCACCTTTTGAGTGGAGTTCTGTGCGACACTCTGATGAACCACCTGTGGTCACAACAGAATGCGAAATGCCCAAATGCAATGAACACTTCCACAAGCCTCGACAGCACAGATCTCAGGTGACACAGCGCAGCCCTTCTTTTTTTCTGATGCATTTTTTAAAAAAGTTCTACGTGATTCCAGGGCAGGGAGAGAAGCTGAAGTTGGGCTAACATTAAAGAACCCTGTTTTA... | CCATGAGTAAGTAGCCGCTGGCCACGCGGATGACACTGACGTCAGAGAAGGATTTCAGGATGTCGTCCAGGGTCGTGGTGGTGAAGGAAAGCACCTTTTGAGTGGAGTTCTGTGCGACACTCTGATGAACCACCTGTGGTCACAACAGAATGCGAAATGCCCAAATGCAATGAACACTTCCACAAGCCTCGACAGCACAGATCTCAGGTGACACAGCGCAGCCCTTCTTTTTTTCTGATGCATTTTTTAAAAAAGTTCTACGTGATTCCAGGGCAGGGAGAGAAGCTGAAGTTGGGCTAACATTAAAGAACCCTGTTTTA... | benign | 147,071 |
Regarding the variant at chromosome 9 and position 95480390, affecting gene PTCH1 (patched 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAGTTGGGCTAACATTAAAGAACCCTGTTTTAGGACAAGGGCCATGGCTAATCAGTGGCAGTGGGTGCTGCTGAGGGCTGGTGTCGCTGGAGTTCACTCTGAGTGCTGTATTTACTCCAGGGCTGAGACTGCTCGTCTCTTCTCCGTTAACTTCACAATTGACTTGCGGTCCCATCGGCTCCCCACTAATCCAAAACAACTCATTCTTATGGCCCTCCTCCCCCTGTTCATTTGCTGGCCACTTTTAAAAGGTCACATGCAGCTCAGTAGAGGTCACTGCTTGGGAAACAAAGGCCAGCTCCTGTCACATGACCTGACCA... | AAGTTGGGCTAACATTAAAGAACCCTGTTTTAGGACAAGGGCCATGGCTAATCAGTGGCAGTGGGTGCTGCTGAGGGCTGGTGTCGCTGGAGTTCACTCTGAGTGCTGTATTTACTCCAGGGCTGAGACTGCTCGTCTCTTCTCCGTTAACTTCACAATTGACTTGCGGTCCCATCGGCTCCCCACTAATCCAAAACAACTCATTCTTATGGCCCTCCTCCCCCTGTTCATTTGCTGGCCACTTTTAAAAGGTCACATGCAGCTCAGTAGAGGTCACTGCTTGGGAAACAAAGGCCAGCTCCTGTCACATGACCTGACCA... | pathogenic | 147,078 |
Considering the variant on chromosome 9, location 95480448, involving gene PTCH1 (patched 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGTGGGTGCTGCTGAGGGCTGGTGTCGCTGGAGTTCACTCTGAGTGCTGTATTTACTCCAGGGCTGAGACTGCTCGTCTCTTCTCCGTTAACTTCACAATTGACTTGCGGTCCCATCGGCTCCCCACTAATCCAAAACAACTCATTCTTATGGCCCTCCTCCCCCTGTTCATTTGCTGGCCACTTTTAAAAGGTCACATGCAGCTCAGTAGAGGTCACTGCTTGGGAAACAAAGGCCAGCTCCTGTCACATGACCTGACCAAGGGGCCTGCAGCTGTGAACAGATTCTATGCCTTGCTAATGTTTTCCAGACACCTTTG... | CAGTGGGTGCTGCTGAGGGCTGGTGTCGCTGGAGTTCACTCTGAGTGCTGTATTTACTCCAGGGCTGAGACTGCTCGTCTCTTCTCCGTTAACTTCACAATTGACTTGCGGTCCCATCGGCTCCCCACTAATCCAAAACAACTCATTCTTATGGCCCTCCTCCCCCTGTTCATTTGCTGGCCACTTTTAAAAGGTCACATGCAGCTCAGTAGAGGTCACTGCTTGGGAAACAAAGGCCAGCTCCTGTCACATGACCTGACCAAGGGGCCTGCAGCTGTGAACAGATTCTATGCCTTGCTAATGTTTTCCAGACACCTTTG... | pathogenic | 147,092 |
Is the variant located on chromosome 9 at position 95480512, gene PTCH1 (patched 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Gorlin_syndrome'] | CTGAGACTGCTCGTCTCTTCTCCGTTAACTTCACAATTGACTTGCGGTCCCATCGGCTCCCCACTAATCCAAAACAACTCATTCTTATGGCCCTCCTCCCCCTGTTCATTTGCTGGCCACTTTTAAAAGGTCACATGCAGCTCAGTAGAGGTCACTGCTTGGGAAACAAAGGCCAGCTCCTGTCACATGACCTGACCAAGGGGCCTGCAGCTGTGAACAGATTCTATGCCTTGCTAATGTTTTCCAGACACCTTTGCTAACCAAGTGTTTTTTTAAACACTGTTATGTGCTTTAGTTCTGGAATTCACAACTGGTTACTA... | CTGAGACTGCTCGTCTCTTCTCCGTTAACTTCACAATTGACTTGCGGTCCCATCGGCTCCCCACTAATCCAAAACAACTCATTCTTATGGCCCTCCTCCCCCTGTTCATTTGCTGGCCACTTTTAAAAGGTCACATGCAGCTCAGTAGAGGTCACTGCTTGGGAAACAAAGGCCAGCTCCTGTCACATGACCTGACCAAGGGGCCTGCAGCTGTGAACAGATTCTATGCCTTGCTAATGTTTTCCAGACACCTTTGCTAACCAAGTGTTTTTTTAAACACTGTTATGTGCTTTAGTTCTGGAATTCACAACTGGTTACTA... | pathogenic | 147,100 |
Variant chromosome 9, position 95480524, gene PTCH1 (patched 1): benign or pathogenic? Disease(s)? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTCTCTTCTCCGTTAACTTCACAATTGACTTGCGGTCCCATCGGCTCCCCACTAATCCAAAACAACTCATTCTTATGGCCCTCCTCCCCCTGTTCATTTGCTGGCCACTTTTAAAAGGTCACATGCAGCTCAGTAGAGGTCACTGCTTGGGAAACAAAGGCCAGCTCCTGTCACATGACCTGACCAAGGGGCCTGCAGCTGTGAACAGATTCTATGCCTTGCTAATGTTTTCCAGACACCTTTGCTAACCAAGTGTTTTTTTAAACACTGTTATGTGCTTTAGTTCTGGAATTCACAACTGGTTACTAAACATGTCTCAG... | GTCTCTTCTCCGTTAACTTCACAATTGACTTGCGGTCCCATCGGCTCCCCACTAATCCAAAACAACTCATTCTTATGGCCCTCCTCCCCCTGTTCATTTGCTGGCCACTTTTAAAAGGTCACATGCAGCTCAGTAGAGGTCACTGCTTGGGAAACAAAGGCCAGCTCCTGTCACATGACCTGACCAAGGGGCCTGCAGCTGTGAACAGATTCTATGCCTTGCTAATGTTTTCCAGACACCTTTGCTAACCAAGTGTTTTTTTAAACACTGTTATGTGCTTTAGTTCTGGAATTCACAACTGGTTACTAAACATGTCTCAG... | pathogenic | 147,103 |
Clinically, how would you classify the variant at chromosome 9, position 95480576, gene PTCH1 (patched 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Basal_cell_nevus_syndrome_1', 'Gorlin_syndrome'] | TAATCCAAAACAACTCATTCTTATGGCCCTCCTCCCCCTGTTCATTTGCTGGCCACTTTTAAAAGGTCACATGCAGCTCAGTAGAGGTCACTGCTTGGGAAACAAAGGCCAGCTCCTGTCACATGACCTGACCAAGGGGCCTGCAGCTGTGAACAGATTCTATGCCTTGCTAATGTTTTCCAGACACCTTTGCTAACCAAGTGTTTTTTTAAACACTGTTATGTGCTTTAGTTCTGGAATTCACAACTGGTTACTAAACATGTCTCAGGGCACCCCAATTAGAACTAGTCTTTTAGATATTATCCCAGGATTTTCAATAT... | TAATCCAAAACAACTCATTCTTATGGCCCTCCTCCCCCTGTTCATTTGCTGGCCACTTTTAAAAGGTCACATGCAGCTCAGTAGAGGTCACTGCTTGGGAAACAAAGGCCAGCTCCTGTCACATGACCTGACCAAGGGGCCTGCAGCTGTGAACAGATTCTATGCCTTGCTAATGTTTTCCAGACACCTTTGCTAACCAAGTGTTTTTTTAAACACTGTTATGTGCTTTAGTTCTGGAATTCACAACTGGTTACTAAACATGTCTCAGGGCACCCCAATTAGAACTAGTCTTTTAGATATTATCCCAGGATTTTCAATAT... | pathogenic | 147,111 |
A genetic variant at chromosome 9, position 95482193, affecting gene PTCH1 (patched 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTTGTTAAAATCCAGTGCATTAAGGGCTTGTGTGTTTCAGAGAGAACATTAATAGCAAGGCTAATGGGAGGTGTATGGCAAATCTTACAGCAAAATTTAGCTCTATAAATAAACTTAGTTCCATAGACAAAGACGATCATGGAGAATGAAATGTTAAAAATGAAAATAATAAAGTGAACGATGAATGGACACAAAAAAGTGTTTTGCTCTCCACCCTTCTGAGAGCGCTCACTGCTGGTACTCACTTTGGTTGAATTTTTGTTGGGGGCTGTGGCGGGGCAGTCTGGATCGGCCGGATTGAGGCAGGGGCGGTCCATGTA... | CTTGTTAAAATCCAGTGCATTAAGGGCTTGTGTGTTTCAGAGAGAACATTAATAGCAAGGCTAATGGGAGGTGTATGGCAAATCTTACAGCAAAATTTAGCTCTATAAATAAACTTAGTTCCATAGACAAAGACGATCATGGAGAATGAAATGTTAAAAATGAAAATAATAAAGTGAACGATGAATGGACACAAAAAAGTGTTTTGCTCTCCACCCTTCTGAGAGCGCTCACTGCTGGTACTCACTTTGGTTGAATTTTTGTTGGGGGCTGTGGCGGGGCAGTCTGGATCGGCCGGATTGAGGCAGGGGCGGTCCATGTA... | pathogenic | 147,135 |
Evaluate the clinical significance of the mutation at chromosome 9, position 95485813 in gene PTCH1 (patched 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCACACATCCATGGACATATTTATATTTTAATTCTATACAGCATCAACATAGACTATCCGGCATGAGTAGGTTCTCACTTTATATTACTTGATCAACTCTCATTTACACTTGAGAAGGACATCATTGTGCATTAGAAAAATGAATGGGCTTGAAGCCAGAAAAAGGCTTTGAAACCTGGCTCTCTCATTTCATAACTGCATGAACTTGGACAAATGCTCTAATTAGTCTAATTCCCAGTTTTCTCACCTAAAACATGGGATGGGTTGAACTACATGTTCTTAAAGTTCATTCCAATGCATAAAATTACTCTGGACCCATC... | CCACACATCCATGGACATATTTATATTTTAATTCTATACAGCATCAACATAGACTATCCGGCATGAGTAGGTTCTCACTTTATATTACTTGATCAACTCTCATTTACACTTGAGAAGGACATCATTGTGCATTAGAAAAATGAATGGGCTTGAAGCCAGAAAAAGGCTTTGAAACCTGGCTCTCTCATTTCATAACTGCATGAACTTGGACAAATGCTCTAATTAGTCTAATTCCCAGTTTTCTCACCTAAAACATGGGATGGGTTGAACTACATGTTCTTAAAGTTCATTCCAATGCATAAAATTACTCTGGACCCATC... | pathogenic | 147,167 |
The mutation in gene PTCH1 (patched 1) at chromosome 9, position 95485817—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Gorlin_syndrome'] | ACATCCATGGACATATTTATATTTTAATTCTATACAGCATCAACATAGACTATCCGGCATGAGTAGGTTCTCACTTTATATTACTTGATCAACTCTCATTTACACTTGAGAAGGACATCATTGTGCATTAGAAAAATGAATGGGCTTGAAGCCAGAAAAAGGCTTTGAAACCTGGCTCTCTCATTTCATAACTGCATGAACTTGGACAAATGCTCTAATTAGTCTAATTCCCAGTTTTCTCACCTAAAACATGGGATGGGTTGAACTACATGTTCTTAAAGTTCATTCCAATGCATAAAATTACTCTGGACCCATCTCAG... | ACATCCATGGACATATTTATATTTTAATTCTATACAGCATCAACATAGACTATCCGGCATGAGTAGGTTCTCACTTTATATTACTTGATCAACTCTCATTTACACTTGAGAAGGACATCATTGTGCATTAGAAAAATGAATGGGCTTGAAGCCAGAAAAAGGCTTTGAAACCTGGCTCTCTCATTTCATAACTGCATGAACTTGGACAAATGCTCTAATTAGTCTAATTCCCAGTTTTCTCACCTAAAACATGGGATGGGTTGAACTACATGTTCTTAAAGTTCATTCCAATGCATAAAATTACTCTGGACCCATCTCAG... | pathogenic | 147,169 |
Variant on chromosome 9, at position 95506510, affecting PTCH1 (patched 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Gorlin_syndrome'] | TGCTAAGAACACCACAAAATCACGTTTTGTCATCCTCATCCGATGGCAACAAATACAGGTTGGATCAAGTGGTGGATGAGCCGGCCCTCCCTGTGCTCATGCCCTATTCTGTCCAAGAATCTACGGCAGCGGCCCTCCCTGTCCTCATGCCCTATTCTGTCCTAGAATCTACGGCAGCGCCCCTACAGTCTAGCCAATCACATCACTTCCAAACTCCTCAGCTGGGGCCCCTGCTGGTGTCCCGCCCATGCCTAAAATGCCCTCCTTCCCCTACCGTCTCCAGTTCTCTCCCCCCACCCCCTACCACCCTCTTGTAACTT... | TGCTAAGAACACCACAAAATCACGTTTTGTCATCCTCATCCGATGGCAACAAATACAGGTTGGATCAAGTGGTGGATGAGCCGGCCCTCCCTGTGCTCATGCCCTATTCTGTCCAAGAATCTACGGCAGCGGCCCTCCCTGTCCTCATGCCCTATTCTGTCCTAGAATCTACGGCAGCGCCCCTACAGTCTAGCCAATCACATCACTTCCAAACTCCTCAGCTGGGGCCCCTGCTGGTGTCCCGCCCATGCCTAAAATGCCCTCCTTCCCCTACCGTCTCCAGTTCTCTCCCCCCACCCCCTACCACCCTCTTGTAACTT... | pathogenic | 147,213 |
A genetic alteration at chromosome 9, position 95506510, in gene PTCH1 (patched 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Gorlin_syndrome'] | TGCTAAGAACACCACAAAATCACGTTTTGTCATCCTCATCCGATGGCAACAAATACAGGTTGGATCAAGTGGTGGATGAGCCGGCCCTCCCTGTGCTCATGCCCTATTCTGTCCAAGAATCTACGGCAGCGGCCCTCCCTGTCCTCATGCCCTATTCTGTCCTAGAATCTACGGCAGCGCCCCTACAGTCTAGCCAATCACATCACTTCCAAACTCCTCAGCTGGGGCCCCTGCTGGTGTCCCGCCCATGCCTAAAATGCCCTCCTTCCCCTACCGTCTCCAGTTCTCTCCCCCCACCCCCTACCACCCTCTTGTAACTT... | TGCTAAGAACACCACAAAATCACGTTTTGTCATCCTCATCCGATGGCAACAAATACAGGTTGGATCAAGTGGTGGATGAGCCGGCCCTCCCTGTGCTCATGCCCTATTCTGTCCAAGAATCTACGGCAGCGGCCCTCCCTGTCCTCATGCCCTATTCTGTCCTAGAATCTACGGCAGCGCCCCTACAGTCTAGCCAATCACATCACTTCCAAACTCCTCAGCTGGGGCCCCTGCTGGTGTCCCGCCCATGCCTAAAATGCCCTCCTTCCCCTACCGTCTCCAGTTCTCTCCCCCCACCCCCTACCACCCTCTTGTAACTT... | pathogenic | 147,214 |
Assess the variant on chromosome 9, position 95506521, impacting PTCH1 (patched 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'PTCH1-related_disorder'] | CCACAAAATCACGTTTTGTCATCCTCATCCGATGGCAACAAATACAGGTTGGATCAAGTGGTGGATGAGCCGGCCCTCCCTGTGCTCATGCCCTATTCTGTCCAAGAATCTACGGCAGCGGCCCTCCCTGTCCTCATGCCCTATTCTGTCCTAGAATCTACGGCAGCGCCCCTACAGTCTAGCCAATCACATCACTTCCAAACTCCTCAGCTGGGGCCCCTGCTGGTGTCCCGCCCATGCCTAAAATGCCCTCCTTCCCCTACCGTCTCCAGTTCTCTCCCCCCACCCCCTACCACCCTCTTGTAACTTTCACAGCCCAT... | CCACAAAATCACGTTTTGTCATCCTCATCCGATGGCAACAAATACAGGTTGGATCAAGTGGTGGATGAGCCGGCCCTCCCTGTGCTCATGCCCTATTCTGTCCAAGAATCTACGGCAGCGGCCCTCCCTGTCCTCATGCCCTATTCTGTCCTAGAATCTACGGCAGCGCCCCTACAGTCTAGCCAATCACATCACTTCCAAACTCCTCAGCTGGGGCCCCTGCTGGTGTCCCGCCCATGCCTAAAATGCCCTCCTTCCCCTACCGTCTCCAGTTCTCTCCCCCCACCCCCTACCACCCTCTTGTAACTTTCACAGCCCAT... | pathogenic | 147,218 |
Variant in gene PTCH1 (patched 1), located at chromosome 9 position 95506522: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Gorlin_syndrome'] | CACAAAATCACGTTTTGTCATCCTCATCCGATGGCAACAAATACAGGTTGGATCAAGTGGTGGATGAGCCGGCCCTCCCTGTGCTCATGCCCTATTCTGTCCAAGAATCTACGGCAGCGGCCCTCCCTGTCCTCATGCCCTATTCTGTCCTAGAATCTACGGCAGCGCCCCTACAGTCTAGCCAATCACATCACTTCCAAACTCCTCAGCTGGGGCCCCTGCTGGTGTCCCGCCCATGCCTAAAATGCCCTCCTTCCCCTACCGTCTCCAGTTCTCTCCCCCCACCCCCTACCACCCTCTTGTAACTTTCACAGCCCATT... | CACAAAATCACGTTTTGTCATCCTCATCCGATGGCAACAAATACAGGTTGGATCAAGTGGTGGATGAGCCGGCCCTCCCTGTGCTCATGCCCTATTCTGTCCAAGAATCTACGGCAGCGGCCCTCCCTGTCCTCATGCCCTATTCTGTCCTAGAATCTACGGCAGCGCCCCTACAGTCTAGCCAATCACATCACTTCCAAACTCCTCAGCTGGGGCCCCTGCTGGTGTCCCGCCCATGCCTAAAATGCCCTCCTTCCCCTACCGTCTCCAGTTCTCTCCCCCCACCCCCTACCACCCTCTTGTAACTTTCACAGCCCATT... | pathogenic | 147,220 |
A mutation at chromosome position 95506535 on chromosome 9 in gene PTCH1 (patched 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTGTCATCCTCATCCGATGGCAACAAATACAGGTTGGATCAAGTGGTGGATGAGCCGGCCCTCCCTGTGCTCATGCCCTATTCTGTCCAAGAATCTACGGCAGCGGCCCTCCCTGTCCTCATGCCCTATTCTGTCCTAGAATCTACGGCAGCGCCCCTACAGTCTAGCCAATCACATCACTTCCAAACTCCTCAGCTGGGGCCCCTGCTGGTGTCCCGCCCATGCCTAAAATGCCCTCCTTCCCCTACCGTCTCCAGTTCTCTCCCCCCACCCCCTACCACCCTCTTGTAACTTTCACAGCCCATTTCAGCTGTGAACC... | TTTGTCATCCTCATCCGATGGCAACAAATACAGGTTGGATCAAGTGGTGGATGAGCCGGCCCTCCCTGTGCTCATGCCCTATTCTGTCCAAGAATCTACGGCAGCGGCCCTCCCTGTCCTCATGCCCTATTCTGTCCTAGAATCTACGGCAGCGCCCCTACAGTCTAGCCAATCACATCACTTCCAAACTCCTCAGCTGGGGCCCCTGCTGGTGTCCCGCCCATGCCTAAAATGCCCTCCTTCCCCTACCGTCTCCAGTTCTCTCCCCCCACCCCCTACCACCCTCTTGTAACTTTCACAGCCCATTTCAGCTGTGAACC... | pathogenic | 147,222 |
Does the variant on chromosome 9 at location 95506540 affecting gene PTCH1 (patched 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Gorlin_syndrome'] | CATCCTCATCCGATGGCAACAAATACAGGTTGGATCAAGTGGTGGATGAGCCGGCCCTCCCTGTGCTCATGCCCTATTCTGTCCAAGAATCTACGGCAGCGGCCCTCCCTGTCCTCATGCCCTATTCTGTCCTAGAATCTACGGCAGCGCCCCTACAGTCTAGCCAATCACATCACTTCCAAACTCCTCAGCTGGGGCCCCTGCTGGTGTCCCGCCCATGCCTAAAATGCCCTCCTTCCCCTACCGTCTCCAGTTCTCTCCCCCCACCCCCTACCACCCTCTTGTAACTTTCACAGCCCATTTCAGCTGTGAACCCAAAT... | CATCCTCATCCGATGGCAACAAATACAGGTTGGATCAAGTGGTGGATGAGCCGGCCCTCCCTGTGCTCATGCCCTATTCTGTCCAAGAATCTACGGCAGCGGCCCTCCCTGTCCTCATGCCCTATTCTGTCCTAGAATCTACGGCAGCGCCCCTACAGTCTAGCCAATCACATCACTTCCAAACTCCTCAGCTGGGGCCCCTGCTGGTGTCCCGCCCATGCCTAAAATGCCCTCCTTCCCCTACCGTCTCCAGTTCTCTCCCCCCACCCCCTACCACCCTCTTGTAACTTTCACAGCCCATTTCAGCTGTGAACCCAAAT... | pathogenic | 147,223 |
A genetic alteration at chromosome 9, position 95506541, in gene PTCH1 (patched 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Holoprosencephaly_7'] | ATCCTCATCCGATGGCAACAAATACAGGTTGGATCAAGTGGTGGATGAGCCGGCCCTCCCTGTGCTCATGCCCTATTCTGTCCAAGAATCTACGGCAGCGGCCCTCCCTGTCCTCATGCCCTATTCTGTCCTAGAATCTACGGCAGCGCCCCTACAGTCTAGCCAATCACATCACTTCCAAACTCCTCAGCTGGGGCCCCTGCTGGTGTCCCGCCCATGCCTAAAATGCCCTCCTTCCCCTACCGTCTCCAGTTCTCTCCCCCCACCCCCTACCACCCTCTTGTAACTTTCACAGCCCATTTCAGCTGTGAACCCAAATG... | ATCCTCATCCGATGGCAACAAATACAGGTTGGATCAAGTGGTGGATGAGCCGGCCCTCCCTGTGCTCATGCCCTATTCTGTCCAAGAATCTACGGCAGCGGCCCTCCCTGTCCTCATGCCCTATTCTGTCCTAGAATCTACGGCAGCGCCCCTACAGTCTAGCCAATCACATCACTTCCAAACTCCTCAGCTGGGGCCCCTGCTGGTGTCCCGCCCATGCCTAAAATGCCCTCCTTCCCCTACCGTCTCCAGTTCTCTCCCCCCACCCCCTACCACCCTCTTGTAACTTTCACAGCCCATTTCAGCTGTGAACCCAAATG... | pathogenic | 147,224 |
A genetic variant at chromosome 9, position 95506545, affecting gene PTCH1 (patched 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Gorlin_syndrome'] | TCATCCGATGGCAACAAATACAGGTTGGATCAAGTGGTGGATGAGCCGGCCCTCCCTGTGCTCATGCCCTATTCTGTCCAAGAATCTACGGCAGCGGCCCTCCCTGTCCTCATGCCCTATTCTGTCCTAGAATCTACGGCAGCGCCCCTACAGTCTAGCCAATCACATCACTTCCAAACTCCTCAGCTGGGGCCCCTGCTGGTGTCCCGCCCATGCCTAAAATGCCCTCCTTCCCCTACCGTCTCCAGTTCTCTCCCCCCACCCCCTACCACCCTCTTGTAACTTTCACAGCCCATTTCAGCTGTGAACCCAAATGTAGT... | TCATCCGATGGCAACAAATACAGGTTGGATCAAGTGGTGGATGAGCCGGCCCTCCCTGTGCTCATGCCCTATTCTGTCCAAGAATCTACGGCAGCGGCCCTCCCTGTCCTCATGCCCTATTCTGTCCTAGAATCTACGGCAGCGCCCCTACAGTCTAGCCAATCACATCACTTCCAAACTCCTCAGCTGGGGCCCCTGCTGGTGTCCCGCCCATGCCTAAAATGCCCTCCTTCCCCTACCGTCTCCAGTTCTCTCCCCCCACCCCCTACCACCCTCTTGTAACTTTCACAGCCCATTTCAGCTGTGAACCCAAATGTAGT... | pathogenic | 147,226 |
Evaluate this variant at chromosome 9, position 95508247, gene PTCH1: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Gorlin_syndrome'] | GGCGCAGCGCCCCGAGTAGATTACAGCGCGGCCTTTGTCGGGCGGGCCTGGCTCCCGGCCAGGCGCCCAAACAATAAACAATCCCCCGGGTGCGGGCAGGGGGTTTCGCCGGCCGCAGCCAGGCTCTAGGTGTGCGCTGGCGAATATCTCTATCAACCGCGAGGAGGGACCGGGCCGGGGGCGCGGGCGCCGCGGCGGGCGCTCTTACCTTCCACCCACAGCTCCTCCACGTTGGTCTCGAGGTTCGCTGCTTTTAATCCCACCGCGAAGGCCCCAAATATGAGGAGGCCCACAACCAAGAACTTGCCGCAGTTTTTTTG... | GGCGCAGCGCCCCGAGTAGATTACAGCGCGGCCTTTGTCGGGCGGGCCTGGCTCCCGGCCAGGCGCCCAAACAATAAACAATCCCCCGGGTGCGGGCAGGGGGTTTCGCCGGCCGCAGCCAGGCTCTAGGTGTGCGCTGGCGAATATCTCTATCAACCGCGAGGAGGGACCGGGCCGGGGGCGCGGGCGCCGCGGCGGGCGCTCTTACCTTCCACCCACAGCTCCTCCACGTTGGTCTCGAGGTTCGCTGCTTTTAATCCCACCGCGAAGGCCCCAAATATGAGGAGGCCCACAACCAAGAACTTGCCGCAGTTTTTTTG... | pathogenic | 147,269 |
The mutation impacting PTCH1 on chromosome 9 at position 95508310: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CGCCCAAACAATAAACAATCCCCCGGGTGCGGGCAGGGGGTTTCGCCGGCCGCAGCCAGGCTCTAGGTGTGCGCTGGCGAATATCTCTATCAACCGCGAGGAGGGACCGGGCCGGGGGCGCGGGCGCCGCGGCGGGCGCTCTTACCTTCCACCCACAGCTCCTCCACGTTGGTCTCGAGGTTCGCTGCTTTTAATCCCACCGCGAAGGCCCCAAATATGAGGAGGCCCACAACCAAGAACTTGCCGCAGTTTTTTTGAATGTAACAACCCAGTTTAAATAAGAGTCTCTGAAACTTCGCTCTCAGCCACAGCGGCGCTTT... | CGCCCAAACAATAAACAATCCCCCGGGTGCGGGCAGGGGGTTTCGCCGGCCGCAGCCAGGCTCTAGGTGTGCGCTGGCGAATATCTCTATCAACCGCGAGGAGGGACCGGGCCGGGGGCGCGGGCGCCGCGGCGGGCGCTCTTACCTTCCACCCACAGCTCCTCCACGTTGGTCTCGAGGTTCGCTGCTTTTAATCCCACCGCGAAGGCCCCAAATATGAGGAGGCCCACAACCAAGAACTTGCCGCAGTTTTTTTGAATGTAACAACCCAGTTTAAATAAGAGTCTCTGAAACTTCGCTCTCAGCCACAGCGGCGCTTT... | benign | 147,289 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 95508364, gene PTCH1. What disease(s) is it linked to if pathogenic? | benign | GCCAGGCTCTAGGTGTGCGCTGGCGAATATCTCTATCAACCGCGAGGAGGGACCGGGCCGGGGGCGCGGGCGCCGCGGCGGGCGCTCTTACCTTCCACCCACAGCTCCTCCACGTTGGTCTCGAGGTTCGCTGCTTTTAATCCCACCGCGAAGGCCCCAAATATGAGGAGGCCCACAACCAAGAACTTGCCGCAGTTTTTTTGAATGTAACAACCCAGTTTAAATAAGAGTCTCTGAAACTTCGCTCTCAGCCACAGCGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGAAGGGAGGAGTGAGCGCCGGG... | GCCAGGCTCTAGGTGTGCGCTGGCGAATATCTCTATCAACCGCGAGGAGGGACCGGGCCGGGGGCGCGGGCGCCGCGGCGGGCGCTCTTACCTTCCACCCACAGCTCCTCCACGTTGGTCTCGAGGTTCGCTGCTTTTAATCCCACCGCGAAGGCCCCAAATATGAGGAGGCCCACAACCAAGAACTTGCCGCAGTTTTTTTGAATGTAACAACCCAGTTTAAATAAGAGTCTCTGAAACTTCGCTCTCAGCCACAGCGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGAAGGGAGGAGTGAGCGCCGGG... | benign | 147,300 |
Determine if the mutation at chromosome 9, position 95508364 in gene PTCH1 is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GCCAGGCTCTAGGTGTGCGCTGGCGAATATCTCTATCAACCGCGAGGAGGGACCGGGCCGGGGGCGCGGGCGCCGCGGCGGGCGCTCTTACCTTCCACCCACAGCTCCTCCACGTTGGTCTCGAGGTTCGCTGCTTTTAATCCCACCGCGAAGGCCCCAAATATGAGGAGGCCCACAACCAAGAACTTGCCGCAGTTTTTTTGAATGTAACAACCCAGTTTAAATAAGAGTCTCTGAAACTTCGCTCTCAGCCACAGCGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGAAGGGAGGAGTGAGCGCCGGG... | GCCAGGCTCTAGGTGTGCGCTGGCGAATATCTCTATCAACCGCGAGGAGGGACCGGGCCGGGGGCGCGGGCGCCGCGGCGGGCGCTCTTACCTTCCACCCACAGCTCCTCCACGTTGGTCTCGAGGTTCGCTGCTTTTAATCCCACCGCGAAGGCCCCAAATATGAGGAGGCCCACAACCAAGAACTTGCCGCAGTTTTTTTGAATGTAACAACCCAGTTTAAATAAGAGTCTCTGAAACTTCGCTCTCAGCCACAGCGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGAAGGGAGGAGTGAGCGCCGGG... | benign | 147,301 |
Chromosome 9, position 95508364, gene PTCH1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GCCAGGCTCTAGGTGTGCGCTGGCGAATATCTCTATCAACCGCGAGGAGGGACCGGGCCGGGGGCGCGGGCGCCGCGGCGGGCGCTCTTACCTTCCACCCACAGCTCCTCCACGTTGGTCTCGAGGTTCGCTGCTTTTAATCCCACCGCGAAGGCCCCAAATATGAGGAGGCCCACAACCAAGAACTTGCCGCAGTTTTTTTGAATGTAACAACCCAGTTTAAATAAGAGTCTCTGAAACTTCGCTCTCAGCCACAGCGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGAAGGGAGGAGTGAGCGCCGGG... | GCCAGGCTCTAGGTGTGCGCTGGCGAATATCTCTATCAACCGCGAGGAGGGACCGGGCCGGGGGCGCGGGCGCCGCGGCGGGCGCTCTTACCTTCCACCCACAGCTCCTCCACGTTGGTCTCGAGGTTCGCTGCTTTTAATCCCACCGCGAAGGCCCCAAATATGAGGAGGCCCACAACCAAGAACTTGCCGCAGTTTTTTTGAATGTAACAACCCAGTTTAAATAAGAGTCTCTGAAACTTCGCTCTCAGCCACAGCGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGAAGGGAGGAGTGAGCGCCGGG... | benign | 147,302 |
Is the variant located on chromosome 9 at position 95508364, gene PTCH1, benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GCCAGGCTCTAGGTGTGCGCTGGCGAATATCTCTATCAACCGCGAGGAGGGACCGGGCCGGGGGCGCGGGCGCCGCGGCGGGCGCTCTTACCTTCCACCCACAGCTCCTCCACGTTGGTCTCGAGGTTCGCTGCTTTTAATCCCACCGCGAAGGCCCCAAATATGAGGAGGCCCACAACCAAGAACTTGCCGCAGTTTTTTTGAATGTAACAACCCAGTTTAAATAAGAGTCTCTGAAACTTCGCTCTCAGCCACAGCGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGAAGGGAGGAGTGAGCGCCGGG... | GCCAGGCTCTAGGTGTGCGCTGGCGAATATCTCTATCAACCGCGAGGAGGGACCGGGCCGGGGGCGCGGGCGCCGCGGCGGGCGCTCTTACCTTCCACCCACAGCTCCTCCACGTTGGTCTCGAGGTTCGCTGCTTTTAATCCCACCGCGAAGGCCCCAAATATGAGGAGGCCCACAACCAAGAACTTGCCGCAGTTTTTTTGAATGTAACAACCCAGTTTAAATAAGAGTCTCTGAAACTTCGCTCTCAGCCACAGCGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGAAGGGAGGAGTGAGCGCCGGG... | benign | 147,303 |
Does the genetic variant at chromosome 9, position 95508364, impacting gene PTCH1, appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GCCAGGCTCTAGGTGTGCGCTGGCGAATATCTCTATCAACCGCGAGGAGGGACCGGGCCGGGGGCGCGGGCGCCGCGGCGGGCGCTCTTACCTTCCACCCACAGCTCCTCCACGTTGGTCTCGAGGTTCGCTGCTTTTAATCCCACCGCGAAGGCCCCAAATATGAGGAGGCCCACAACCAAGAACTTGCCGCAGTTTTTTTGAATGTAACAACCCAGTTTAAATAAGAGTCTCTGAAACTTCGCTCTCAGCCACAGCGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGAAGGGAGGAGTGAGCGCCGGG... | GCCAGGCTCTAGGTGTGCGCTGGCGAATATCTCTATCAACCGCGAGGAGGGACCGGGCCGGGGGCGCGGGCGCCGCGGCGGGCGCTCTTACCTTCCACCCACAGCTCCTCCACGTTGGTCTCGAGGTTCGCTGCTTTTAATCCCACCGCGAAGGCCCCAAATATGAGGAGGCCCACAACCAAGAACTTGCCGCAGTTTTTTTGAATGTAACAACCCAGTTTAAATAAGAGTCTCTGAAACTTCGCTCTCAGCCACAGCGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGAAGGGAGGAGTGAGCGCCGGG... | benign | 147,304 |
Considering the genetic mutation at chromosome 9, position 95508364, impacting PTCH1: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GCCAGGCTCTAGGTGTGCGCTGGCGAATATCTCTATCAACCGCGAGGAGGGACCGGGCCGGGGGCGCGGGCGCCGCGGCGGGCGCTCTTACCTTCCACCCACAGCTCCTCCACGTTGGTCTCGAGGTTCGCTGCTTTTAATCCCACCGCGAAGGCCCCAAATATGAGGAGGCCCACAACCAAGAACTTGCCGCAGTTTTTTTGAATGTAACAACCCAGTTTAAATAAGAGTCTCTGAAACTTCGCTCTCAGCCACAGCGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGAAGGGAGGAGTGAGCGCCGGG... | GCCAGGCTCTAGGTGTGCGCTGGCGAATATCTCTATCAACCGCGAGGAGGGACCGGGCCGGGGGCGCGGGCGCCGCGGCGGGCGCTCTTACCTTCCACCCACAGCTCCTCCACGTTGGTCTCGAGGTTCGCTGCTTTTAATCCCACCGCGAAGGCCCCAAATATGAGGAGGCCCACAACCAAGAACTTGCCGCAGTTTTTTTGAATGTAACAACCCAGTTTAAATAAGAGTCTCTGAAACTTCGCTCTCAGCCACAGCGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGAAGGGAGGAGTGAGCGCCGGG... | benign | 147,305 |
The genetic variant at chromosome 9, position 95508364, affecting gene PTCH1: benign or pathogenic? Disease name(s) if pathogenic? | benign | GCCAGGCTCTAGGTGTGCGCTGGCGAATATCTCTATCAACCGCGAGGAGGGACCGGGCCGGGGGCGCGGGCGCCGCGGCGGGCGCTCTTACCTTCCACCCACAGCTCCTCCACGTTGGTCTCGAGGTTCGCTGCTTTTAATCCCACCGCGAAGGCCCCAAATATGAGGAGGCCCACAACCAAGAACTTGCCGCAGTTTTTTTGAATGTAACAACCCAGTTTAAATAAGAGTCTCTGAAACTTCGCTCTCAGCCACAGCGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGAAGGGAGGAGTGAGCGCCGGG... | GCCAGGCTCTAGGTGTGCGCTGGCGAATATCTCTATCAACCGCGAGGAGGGACCGGGCCGGGGGCGCGGGCGCCGCGGCGGGCGCTCTTACCTTCCACCCACAGCTCCTCCACGTTGGTCTCGAGGTTCGCTGCTTTTAATCCCACCGCGAAGGCCCCAAATATGAGGAGGCCCACAACCAAGAACTTGCCGCAGTTTTTTTGAATGTAACAACCCAGTTTAAATAAGAGTCTCTGAAACTTCGCTCTCAGCCACAGCGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGAAGGGAGGAGTGAGCGCCGGG... | benign | 147,306 |
Gene PTCH1 (patched 1) variant at chromosome 9, position 95516676—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGGAATGAGGATAAAAACGGGAGACATATTTTAATCCACATTGATTAACCTCATCAGTTTATCTATCTGTAGAAAGTTGAAGATAATTTTGTAAAACAGCCTTTTTCTTTTCAGAAAATAATTCCAAATGGTTCTAAGTTTTGTTCAAATAGCTTCAAAGATTATGACTACTTTATAACCAGAAATTAGATACACCACTCACAGTGAGTTTGAAATGAAGCTAATACCCCAAATTGAGAATGGCGGGGCCTATTGATGTCTACCTTGATTCAACATTTTAATTGAAACA... | GTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGGAATGAGGATAAAAACGGGAGACATATTTTAATCCACATTGATTAACCTCATCAGTTTATCTATCTGTAGAAAGTTGAAGATAATTTTGTAAAACAGCCTTTTTCTTTTCAGAAAATAATTCCAAATGGTTCTAAGTTTTGTTCAAATAGCTTCAAAGATTATGACTACTTTATAACCAGAAATTAGATACACCACTCACAGTGAGTTTGAAATGAAGCTAATACCCCAAATTGAGAATGGCGGGGCCTATTGATGTCTACCTTGATTCAACATTTTAATTGAAACA... | benign | 147,310 |
The mutation in gene ERCC6L2 (ERCC excision repair 6 like 2) at chromosome 9, position 95916325—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | ATCTTCAGATAGACATTTGGTGTCTATTAGAATCTTTTGCTCATGTTTTAATTGGGTTGTTTTAAATTTTGTTGAGTTATAATAATTTTTTTTTTTGAGACGGAGTCTTGCTGTGTCACCAGGCTAGAGTGCAGTGGCGCAATCTGGGCTCACTACAACCTCTGACTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCCGGGACTACAGGCACACGCCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAAGATTTCACCATGTTGGCCAGGATGGTCTTGATTTTCTGACCTCGTGATCCAC... | ATCTTCAGATAGACATTTGGTGTCTATTAGAATCTTTTGCTCATGTTTTAATTGGGTTGTTTTAAATTTTGTTGAGTTATAATAATTTTTTTTTTTGAGACGGAGTCTTGCTGTGTCACCAGGCTAGAGTGCAGTGGCGCAATCTGGGCTCACTACAACCTCTGACTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCCGGGACTACAGGCACACGCCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAAGATTTCACCATGTTGGCCAGGATGGTCTTGATTTTCTGACCTCGTGATCCAC... | pathogenic | 147,353 |
Variant at chromosome position 96240844, chromosome 9, gene HSD17B3: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Testosterone_17-beta-dehydrogenase_deficiency'] | TGGCGCATGAAGGATGGAGAAGTGTGATTCATGAGTAAGGGTGGCACTGAGGGCAAAGAAGGGGCCATGGCCCCCACTCCTCTGCAGTCCAACCACAGGAAATTATCTCAGCATGGTGAGACAGGTGCTGAGATTTGGTTTTTCCAGCTTCCTTCAGGTCCACGTTGGTGCTGATGTAGAGATAGCAGCCAGAGGTCTATGTGGATCAAAGCTGCAGATGGACCTTGGGCCTGTAGCTGGAGGGGGATGTGGCAGAGTACAGCAGTCTGCTGCCCTCAGTAGCTGGGGAGACCTTATCAGGGTATCCACTGGCCAAGTCA... | TGGCGCATGAAGGATGGAGAAGTGTGATTCATGAGTAAGGGTGGCACTGAGGGCAAAGAAGGGGCCATGGCCCCCACTCCTCTGCAGTCCAACCACAGGAAATTATCTCAGCATGGTGAGACAGGTGCTGAGATTTGGTTTTTCCAGCTTCCTTCAGGTCCACGTTGGTGCTGATGTAGAGATAGCAGCCAGAGGTCTATGTGGATCAAAGCTGCAGATGGACCTTGGGCCTGTAGCTGGAGGGGGATGTGGCAGAGTACAGCAGTCTGCTGCCCTCAGTAGCTGGGGAGACCTTATCAGGGTATCCACTGGCCAAGTCA... | pathogenic | 147,416 |
A mutation at chromosome position 96301920 on chromosome 9 in gene HSD17B3: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | ATATTATCTCCCTGATATCTGCCTCTGCCCAAACATATTTTACTCCTGCTAGAGGTAACTCTATCCATCTTGACTCATAAAAACAGGTTAAGATCATGTTTTTCCTTTGAGTCACCAAATGCTCTTAGTCTCTGTCCCCATTTGAACTTCTTTTAGAATGTAGGTTTTTAGAAGGGCTTTCCCTACACAAACGACAGCAGCTGTGCAGAGTGCTACGTCCACCCACACGTGGGCATCTGAATCTGTGTGGAGTGGGGTATTTAAATCCAGAACACTCAGGTCAAGCTGCTGAGCAAGTTCAAGCAAGTTCACTCCTGACA... | ATATTATCTCCCTGATATCTGCCTCTGCCCAAACATATTTTACTCCTGCTAGAGGTAACTCTATCCATCTTGACTCATAAAAACAGGTTAAGATCATGTTTTTCCTTTGAGTCACCAAATGCTCTTAGTCTCTGTCCCCATTTGAACTTCTTTTAGAATGTAGGTTTTTAGAAGGGCTTTCCCTACACAAACGACAGCAGCTGTGCAGAGTGCTACGTCCACCCACACGTGGGCATCTGAATCTGTGTGGAGTGGGGTATTTAAATCCAGAACACTCAGGTCAAGCTGCTGAGCAAGTTCAAGCAAGTTCACTCCTGACA... | benign | 147,451 |
Gene mutation in XPA (XPA, DNA damage recognition and repair factor) at chromosome 9, position 97675475—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Xeroderma_pigmentosum_group_A'] | TTTGATCCACATTCTAGAGAAATTTGTAGGTTTTAATTTCTTTTCTCTTGGTCCTCTCTTCATGTATAATGGTTGCTTTTAACAGCTGTTCGCTGATGTGGTCCTGCTCTGTCCCAGTCTAGCAGCTTTAGTGTATGGAAAAATTGAACTAGGAATTGAGTTTTGAAGAAATAAAGGTGTAAGAGCAAACATTCAACAGTTGCTGTCCCCAGTAATGAAGTTCATACAGACAAAAGATGGCATGTCACTGTACATCATACCTTGCAATAAATATTCTGTTAAATTGTGCTGGTGCAATTTAACATGCTTTTGTCAAAGTA... | TTTGATCCACATTCTAGAGAAATTTGTAGGTTTTAATTTCTTTTCTCTTGGTCCTCTCTTCATGTATAATGGTTGCTTTTAACAGCTGTTCGCTGATGTGGTCCTGCTCTGTCCCAGTCTAGCAGCTTTAGTGTATGGAAAAATTGAACTAGGAATTGAGTTTTGAAGAAATAAAGGTGTAAGAGCAAACATTCAACAGTTGCTGTCCCCAGTAATGAAGTTCATACAGACAAAAGATGGCATGTCACTGTACATCATACCTTGCAATAAATATTCTGTTAAATTGTGCTGGTGCAATTTAACATGCTTTTGTCAAAGTA... | pathogenic | 147,488 |
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