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 |
|---|---|---|---|---|---|
Evaluate this variant at chromosome 3, position 9739580, gene BRPF1 (bromodomain and PHD finger containing 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Global_developmental_delay', 'Intellectual_developmental_disorder_with_dysmorphic_facies_and_ptosis', 'Sudden_unexplained_death_in_childhood'] | AGTGTGGCTCCAGAGCCTGTGTGTGCTGGCCCACTCTAGCAGCCAAAGTTCCATTTCCCACATAAGAGGAGAAACGAGCTAATGTTTTTCTAGGGCCTGCTGTGTGCCACTTGACTTAGCTCATTCATTTTTCAAAACAACTTTTTAATAAAAAGATAAATGTACATATTTGCACACGTCTGTATGTGGTCACACATGACTTAGTGGTTAGGTGGCATTTTACACCAAGGTGCTCACACTTCCTTCCATGGGCCTGCTGGGGGTTGCTGGAGCCTGATGGGGTAGTAGGCACTGGGCAAGGTAGTATATAAATAAATGTA... | AGTGTGGCTCCAGAGCCTGTGTGTGCTGGCCCACTCTAGCAGCCAAAGTTCCATTTCCCACATAAGAGGAGAAACGAGCTAATGTTTTTCTAGGGCCTGCTGTGTGCCACTTGACTTAGCTCATTCATTTTTCAAAACAACTTTTTAATAAAAAGATAAATGTACATATTTGCACACGTCTGTATGTGGTCACACATGACTTAGTGGTTAGGTGGCATTTTACACCAAGGTGCTCACACTTCCTTCCATGGGCCTGCTGGGGGTTGCTGGAGCCTGATGGGGTAGTAGGCACTGGGCAAGGTAGTATATAAATAAATGTA... | pathogenic | 60,988 |
The mutation impacting BRPF1 (bromodomain and PHD finger containing 1) on chromosome 3 at position 9743683: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Intellectual_developmental_disorder_with_dysmorphic_facies_and_ptosis'] | TCAAAAAAAAAAAAAAAAAAAAGACCCAGGAGAAGGAATAGCGTGTGTACCCCAGCCAGATAGCAGCAGGGCTGACGCTGGAGTCAGGTCTCCTGGTGCTCGGTGTGCTTTTAGTTCTGCTGGAAGCAGAATGTCACAGGAGCGTATGAACAGAATCCTCAGTTATGTGACATAGGTAGCTGGTGCTGGTAGTTCAAGAAAGGGGGAAGCCAGAATTGTTGGTGCAAGTTTCCCTGGGTGGAGCCTCATAGAAGGTAGACCTGTATGAGTACACCCAGCTGTGAGGGTGGGAAAGAAGGCGGGTTCCCAGGCCAGCTGGG... | TCAAAAAAAAAAAAAAAAAAAAGACCCAGGAGAAGGAATAGCGTGTGTACCCCAGCCAGATAGCAGCAGGGCTGACGCTGGAGTCAGGTCTCCTGGTGCTCGGTGTGCTTTTAGTTCTGCTGGAAGCAGAATGTCACAGGAGCGTATGAACAGAATCCTCAGTTATGTGACATAGGTAGCTGGTGCTGGTAGTTCAAGAAAGGGGGAAGCCAGAATTGTTGGTGCAAGTTTCCCTGGGTGGAGCCTCATAGAAGGTAGACCTGTATGAGTACACCCAGCTGTGAGGGTGGGAAAGAAGGCGGGTTCCCAGGCCAGCTGGG... | pathogenic | 60,993 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 9746429, gene BRPF1 (bromodomain and PHD finger containing 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_developmental_disorder_with_dysmorphic_facies_and_ptosis'] | CAGTCCTGTGGGGCCCCCCCAGCTCCCCATCATGAGTTCCCTGCGTCAGCGCAAGCGGGGTAGGAGCCCCCGGCCCAGTTCGAGCTCAGACAGCGACAGTGATAAGTCCACAGAAGACCCCCCAATGGGTGAGCCTTACCATCACCCAGCCCCCCAAGAGAGTGAGCAAAGCTGCCATTCTTCCCAGCATACTCCCAGTTACCCCTTTATTTGCCCATAAAAGAGCGAGCTAGAAGGGTCCTTAGGAATCCTTTAACTCCACTCACTCATCTTACAGTTGGGAAAACTGAGGCCCAGAGACACTACGACCCAGCTAAAGT... | CAGTCCTGTGGGGCCCCCCCAGCTCCCCATCATGAGTTCCCTGCGTCAGCGCAAGCGGGGTAGGAGCCCCCGGCCCAGTTCGAGCTCAGACAGCGACAGTGATAAGTCCACAGAAGACCCCCCAATGGGTGAGCCTTACCATCACCCAGCCCCCCAAGAGAGTGAGCAAAGCTGCCATTCTTCCCAGCATACTCCCAGTTACCCCTTTATTTGCCCATAAAAGAGCGAGCTAGAAGGGTCCTTAGGAATCCTTTAACTCCACTCACTCATCTTACAGTTGGGAAAACTGAGGCCCAGAGACACTACGACCCAGCTAAAGT... | pathogenic | 60,999 |
The mutation impacting FANCD2 on chromosome 3 at position 10032854: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | AGGGGAATTGCTTGAACCCCGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCCCTTCAGCCGGGGCAACAGAGCAAGACTCTTATCTCAAAAAAAAAAGGAAGTTGTGAAGCTCCAATGGTTGATTAGTAATGGGGTTCTAGAATTAGAATATAGAGAAATTGGTAGAAAATTTGAAACTGAAGAGGAATAATATAGGAAATTACTGAAAGTAAATGTTATACTTTGGAAATACTGTTCTCCAAAAGAGAAGAGACTTCTGAATTAAGTTTATTAGAAGGGATTTGGGTTCTCTTGGTCAGTAATGAACAAAC... | AGGGGAATTGCTTGAACCCCGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCCCTTCAGCCGGGGCAACAGAGCAAGACTCTTATCTCAAAAAAAAAAGGAAGTTGTGAAGCTCCAATGGTTGATTAGTAATGGGGTTCTAGAATTAGAATATAGAGAAATTGGTAGAAAATTTGAAACTGAAGAGGAATAATATAGGAAATTACTGAAAGTAAATGTTATACTTTGGAAATACTGTTCTCCAAAAGAGAAGAGACTTCTGAATTAAGTTTATTAGAAGGGATTTGGGTTCTCTTGGTCAGTAATGAACAAAC... | pathogenic | 61,092 |
Variant on chromosome 3, at position 10032862, affecting FANCD2: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | TGCTTGAACCCCGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCCCTTCAGCCGGGGCAACAGAGCAAGACTCTTATCTCAAAAAAAAAAGGAAGTTGTGAAGCTCCAATGGTTGATTAGTAATGGGGTTCTAGAATTAGAATATAGAGAAATTGGTAGAAAATTTGAAACTGAAGAGGAATAATATAGGAAATTACTGAAAGTAAATGTTATACTTTGGAAATACTGTTCTCCAAAAGAGAAGAGACTTCTGAATTAAGTTTATTAGAAGGGATTTGGGTTCTCTTGGTCAGTAATGAACAAACTGAAACTT... | TGCTTGAACCCCGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCCCTTCAGCCGGGGCAACAGAGCAAGACTCTTATCTCAAAAAAAAAAGGAAGTTGTGAAGCTCCAATGGTTGATTAGTAATGGGGTTCTAGAATTAGAATATAGAGAAATTGGTAGAAAATTTGAAACTGAAGAGGAATAATATAGGAAATTACTGAAAGTAAATGTTATACTTTGGAAATACTGTTCTCCAAAAGAGAAGAGACTTCTGAATTAAGTTTATTAGAAGGGATTTGGGTTCTCTTGGTCAGTAATGAACAAACTGAAACTT... | pathogenic | 61,093 |
Is the genetic mutation found on chromosome 3 at position 10032956, within the gene FANCD2, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | AAAGGAAGTTGTGAAGCTCCAATGGTTGATTAGTAATGGGGTTCTAGAATTAGAATATAGAGAAATTGGTAGAAAATTTGAAACTGAAGAGGAATAATATAGGAAATTACTGAAAGTAAATGTTATACTTTGGAAATACTGTTCTCCAAAAGAGAAGAGACTTCTGAATTAAGTTTATTAGAAGGGATTTGGGTTCTCTTGGTCAGTAATGAACAAACTGAAACTTTCATTCTGGTTGTGTTTTACATTTCATTCAGGAAGGTAGTGGTCTTTGTCTCATTCTGATTAAGGCTTTATTAGAAAGAGGGAAAGGAGGCCAG... | AAAGGAAGTTGTGAAGCTCCAATGGTTGATTAGTAATGGGGTTCTAGAATTAGAATATAGAGAAATTGGTAGAAAATTTGAAACTGAAGAGGAATAATATAGGAAATTACTGAAAGTAAATGTTATACTTTGGAAATACTGTTCTCCAAAAGAGAAGAGACTTCTGAATTAAGTTTATTAGAAGGGATTTGGGTTCTCTTGGTCAGTAATGAACAAACTGAAACTTTCATTCTGGTTGTGTTTTACATTTCATTCAGGAAGGTAGTGGTCTTTGTCTCATTCTGATTAAGGCTTTATTAGAAAGAGGGAAAGGAGGCCAG... | pathogenic | 61,096 |
Determine if the mutation at chromosome 3, position 10034489 in gene FANCD2 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | TAACTAGTTTGTGTGTGGAGGGGGGGAATGGGGGTGAAGGGGGGGAGATGGGGGGGTGGTCTCACTTTGTTGCCCAGGCTGGTCTTGAACTCCTGGCTTCAAGTGATCCTCCTGCCTTGGCCTCCTAATTTGCTGGGATTACCACATGAGCCACCTTGCCTGGCCAGAAATGGCACATTTTGAATTCTTCAAATGAAAATAGGTGAAAATAATTCTATTTGTTTGTTTTGGAAGCCACTATTGCTGAAGACAGTTTATTTCACTACAGCATCAATCCTAGTATAATTTTTAAGGACACATCAGTTTTCCTCTCATGATTA... | TAACTAGTTTGTGTGTGGAGGGGGGGAATGGGGGTGAAGGGGGGGAGATGGGGGGGTGGTCTCACTTTGTTGCCCAGGCTGGTCTTGAACTCCTGGCTTCAAGTGATCCTCCTGCCTTGGCCTCCTAATTTGCTGGGATTACCACATGAGCCACCTTGCCTGGCCAGAAATGGCACATTTTGAATTCTTCAAATGAAAATAGGTGAAAATAATTCTATTTGTTTGTTTTGGAAGCCACTATTGCTGAAGACAGTTTATTTCACTACAGCATCAATCCTAGTATAATTTTTAAGGACACATCAGTTTTCCTCTCATGATTA... | pathogenic | 61,101 |
Determine whether the variant at chromosome 3, position 10035158, in gene FANCD2 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TTAGAAAATGGTACAGTCAGGCCGGGCGCGGTGGCTCACGTTTATCATCCCAGCACTTTGGGAGGCTCGAGGCAGGCGGATTGCCTGAGCTCAGGAATTTGCGACCGGCCTGGGCAACACGTCTCTACTAAAATATAAAAAATTAGCCGGGCATGGTGGCATGTGCCTGTAGTCCCAGCTGCTTGGGCGCCTGAGTCAGGAGAATTGCTTGAACCCGGGAGGTGAAAGTTGCAGTGAGTCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACTCCATTTCCAAAAAACAAAAATGGAAAAAGAAAATG... | TTAGAAAATGGTACAGTCAGGCCGGGCGCGGTGGCTCACGTTTATCATCCCAGCACTTTGGGAGGCTCGAGGCAGGCGGATTGCCTGAGCTCAGGAATTTGCGACCGGCCTGGGCAACACGTCTCTACTAAAATATAAAAAATTAGCCGGGCATGGTGGCATGTGCCTGTAGTCCCAGCTGCTTGGGCGCCTGAGTCAGGAGAATTGCTTGAACCCGGGAGGTGAAAGTTGCAGTGAGTCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAAGAGTGAGACTCCATTTCCAAAAAACAAAAATGGAAAAAGAAAATG... | benign | 61,106 |
Regarding the variant found on chromosome 3 at position 10039339 in gene FANCD2: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | AAATAGTAAATAATAACTATTACACAGTAAAATAAATGCATTTTTTCCTACTCTCAAAGGGTCTCCTTGTTGAGTGTAGTGAATAGGCATGCTTGTACGTTGCTAGTGAGCATATAAATTAGTTCAGGCATCGATTCGGAAGAGCAATAGATTGTATGTGTCAAAAACCTTAGATTTTGCATACCCTTTAATCCTAATGTCATGTCTCCTCATTTATCCTAAGATAATAACTGTGAATGAAAATGAAATAATATTAGTTTAGTGCTTGCTTTGGCAGCACGTATACTAAAATTGGAACAATACAGAGATTAGCATGGCCC... | AAATAGTAAATAATAACTATTACACAGTAAAATAAATGCATTTTTTCCTACTCTCAAAGGGTCTCCTTGTTGAGTGTAGTGAATAGGCATGCTTGTACGTTGCTAGTGAGCATATAAATTAGTTCAGGCATCGATTCGGAAGAGCAATAGATTGTATGTGTCAAAAACCTTAGATTTTGCATACCCTTTAATCCTAATGTCATGTCTCCTCATTTATCCTAAGATAATAACTGTGAATGAAAATGAAATAATATTAGTTTAGTGCTTGCTTTGGCAGCACGTATACTAAAATTGGAACAATACAGAGATTAGCATGGCCC... | pathogenic | 61,116 |
Is chromosome 3, position 10041632, gene FANCD2 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | GAAGATTCTTTTTCAAAGTACAGAGATAAATGACTGTGTTTATTTCTCAAATAATTTCAGCTCTGCATTTCACACGTAGGTAGTCTTTCTTTATTCTGGGTAATGTGCTGCAGTTCTAATAGTGTCTTCTACTGCAGGACCTCACCACCAAGATCATGCAGCTGATCAGTATTGCTCCAGAGAACCTGCAGCATGACATCATCACCAGCCTACCTGAGATCCTAGGGGATTCCCAGCACGCTGATGTGGGGAAAGAACTCAGGTGGATAAACCCTCTGTCATCATCTAAGTGAGGCTCAGCTATGGGGGTTCTATCACTG... | GAAGATTCTTTTTCAAAGTACAGAGATAAATGACTGTGTTTATTTCTCAAATAATTTCAGCTCTGCATTTCACACGTAGGTAGTCTTTCTTTATTCTGGGTAATGTGCTGCAGTTCTAATAGTGTCTTCTACTGCAGGACCTCACCACCAAGATCATGCAGCTGATCAGTATTGCTCCAGAGAACCTGCAGCATGACATCATCACCAGCCTACCTGAGATCCTAGGGGATTCCCAGCACGCTGATGTGGGGAAAGAACTCAGGTGGATAAACCCTCTGTCATCATCTAAGTGAGGCTCAGCTATGGGGGTTCTATCACTG... | pathogenic | 61,128 |
Regarding the variant found on chromosome 3 at position 10043571 in gene FANCD2: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | CCTTTATTTTCATACTCTAATAAATGATTTTCTCAAGTCATTGTCTGCCCAGCTCTGTTCAAACCATTATACAACTTTTTTCTTTTTCTACCATTCACAGTGACCTACTGATAGAGAATACTTCACTCACTGTCCCAATCCTGGATGTCCTTTCAAGCCTCCGACTTGACCCAAACTTCCTATTGAAGGTAGAAAAGACTCAGCTTTCCAGAAACAGAGCCAGCTTTCCAACCTCCCAGAACAAGTGTCAGTCAGTCATTGCCTTGGGAGTAATGAATATTTCATTTTGAAACCATAGTGAATCACATTTGATATCTCTC... | CCTTTATTTTCATACTCTAATAAATGATTTTCTCAAGTCATTGTCTGCCCAGCTCTGTTCAAACCATTATACAACTTTTTTCTTTTTCTACCATTCACAGTGACCTACTGATAGAGAATACTTCACTCACTGTCCCAATCCTGGATGTCCTTTCAAGCCTCCGACTTGACCCAAACTTCCTATTGAAGGTAGAAAAGACTCAGCTTTCCAGAAACAGAGCCAGCTTTCCAACCTCCCAGAACAAGTGTCAGTCAGTCATTGCCTTGGGAGTAATGAATATTTCATTTTGAAACCATAGTGAATCACATTTGATATCTCTC... | pathogenic | 61,148 |
The mutation impacting FANCD2 on chromosome 3 at position 10046625: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | ACTCCATCTCAAAAGATAAAAAGCCGGATGATTGAGTTCCTTAGGTGCTGATTGGTTGCCTTTAAAGATTTTTCTTTGGTTGGAATCTGTTTTGTGGGATTTTTGTTAGTTTTGTTATCCAATTTTGGGATGATTATCTTAAAAGCTTTCATGATGCTGAATAAAGCAATGAAAATTCAGAATTTTTTCTGGTGAAAAATATCAAAGTACTCCAACACACTGTTTTTGGTTTTGGATAAACATAAATTTACCACCTTGGCTGCCTGCATACCTATTTTTACATATTTGTAATCATTGTATAAATATAATTTGTATTCTTA... | ACTCCATCTCAAAAGATAAAAAGCCGGATGATTGAGTTCCTTAGGTGCTGATTGGTTGCCTTTAAAGATTTTTCTTTGGTTGGAATCTGTTTTGTGGGATTTTTGTTAGTTTTGTTATCCAATTTTGGGATGATTATCTTAAAAGCTTTCATGATGCTGAATAAAGCAATGAAAATTCAGAATTTTTTCTGGTGAAAAATATCAAAGTACTCCAACACACTGTTTTTGGTTTTGGATAAACATAAATTTACCACCTTGGCTGCCTGCATACCTATTTTTACATATTTGTAATCATTGTATAAATATAATTTGTATTCTTA... | pathogenic | 61,161 |
Evaluate if the mutation on chromosome 3 at position 10052414 in FANCD2 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | TGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAAATCACGAGGTCAGGAGATCAAGACCATCCTGCCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATCGTGGCGGTCGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATAACACCACTGCACTCCAGTCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGCTTAGAAGAGCACAGACATTTTGAGAAGGTTAAAGTTTAA... | TGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAAATCACGAGGTCAGGAGATCAAGACCATCCTGCCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATCGTGGCGGTCGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATAACACCACTGCACTCCAGTCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGCTTAGAAGAGCACAGACATTTTGAGAAGGTTAAAGTTTAA... | pathogenic | 61,177 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 10063830, gene FANCD2. What disease(s) is it linked to if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | TTATCTTTACCCTACCCTAGGGAAGTCAGAATTCTTAAACTTATTGGCAGTTGTTACAAAATATTACAAAAGTGAAATTAAAATTCTGTGTTTTTACCAAACACCGCATGTTCTCACTCATAGGTGGTAATTGAACAATGAGAACACATGGACACAGGAAAGGGAACATCACACACCGGGGAATGTTGTGGGGTGGGGGAGGGGGGAGGGATAGCATTAGGAGATATACTTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCC... | TTATCTTTACCCTACCCTAGGGAAGTCAGAATTCTTAAACTTATTGGCAGTTGTTACAAAATATTACAAAAGTGAAATTAAAATTCTGTGTTTTTACCAAACACCGCATGTTCTCACTCATAGGTGGTAATTGAACAATGAGAACACATGGACACAGGAAAGGGAACATCACACACCGGGGAATGTTGTGGGGTGGGGGAGGGGGGAGGGATAGCATTAGGAGATATACTTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCC... | pathogenic | 61,188 |
Is the chromosome 3, position 10063844 variant in FANCD2 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | CCCTAGGGAAGTCAGAATTCTTAAACTTATTGGCAGTTGTTACAAAATATTACAAAAGTGAAATTAAAATTCTGTGTTTTTACCAAACACCGCATGTTCTCACTCATAGGTGGTAATTGAACAATGAGAACACATGGACACAGGAAAGGGAACATCACACACCGGGGAATGTTGTGGGGTGGGGGAGGGGGGAGGGATAGCATTAGGAGATATACTTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAAAACTTAAAGTA... | CCCTAGGGAAGTCAGAATTCTTAAACTTATTGGCAGTTGTTACAAAATATTACAAAAGTGAAATTAAAATTCTGTGTTTTTACCAAACACCGCATGTTCTCACTCATAGGTGGTAATTGAACAATGAGAACACATGGACACAGGAAAGGGAACATCACACACCGGGGAATGTTGTGGGGTGGGGGAGGGGGGAGGGATAGCATTAGGAGATATACTTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAAAACTTAAAGTA... | pathogenic | 61,191 |
Variant at chromosome position 10064362, chromosome 3, gene FANCD2: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | CACTGCAACCTCCACCTCTCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCACGCACCACCACACCCGGCTAATTTTTTATGTTTTTGGTAGAGACGAGGTTTCACCATGTTGGCCCCGCTGGTCCTGAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGAGTACAGGCGTGAGCCACCTCGCCCGGCCGAGTTCTTATAATGTGATTGGATATGTTTATGAGTAACTGAAGAATTGCTTCTAGTCACTGTCAGTTCACCAGAAAGTGCTTCTTTTGTAAA... | CACTGCAACCTCCACCTCTCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCACGCACCACCACACCCGGCTAATTTTTTATGTTTTTGGTAGAGACGAGGTTTCACCATGTTGGCCCCGCTGGTCCTGAACTCCTGAACTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGAGTACAGGCGTGAGCCACCTCGCCCGGCCGAGTTCTTATAATGTGATTGGATATGTTTATGAGTAACTGAAGAATTGCTTCTAGTCACTGTCAGTTCACCAGAAAGTGCTTCTTTTGTAAA... | pathogenic | 61,195 |
Is the variant located on chromosome 3 at position 10065440, gene FANCD2, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | ACACTACTATACTCCAGCCTGGACGACAGAGCAAGGCTCCATCTCAAAAGAAAAAAAGAAAAAGCTATTTGAGAGAGAAAACAGAGAGCCTTGCATGTAAAGCAATACATTTTTATTTCATTCTTTAGGCAGAGGTATTCCTTAAGGGTTTCTTAGCATGGAAATGGCAAAATCAAAGGTTTACTTTAGAAAAATTAATCTGGCTGCAGTGTCTGGCAGATTGGAAAAGGGATGATATCAGAAGGAGACAGACGGGTCAGAACATTCAGGAAAACTTCAAGTGAGACATAGAGCTTTGCCAGTAAAATCAGAAAGTGAAA... | ACACTACTATACTCCAGCCTGGACGACAGAGCAAGGCTCCATCTCAAAAGAAAAAAAGAAAAAGCTATTTGAGAGAGAAAACAGAGAGCCTTGCATGTAAAGCAATACATTTTTATTTCATTCTTTAGGCAGAGGTATTCCTTAAGGGTTTCTTAGCATGGAAATGGCAAAATCAAAGGTTTACTTTAGAAAAATTAATCTGGCTGCAGTGTCTGGCAGATTGGAAAAGGGATGATATCAGAAGGAGACAGACGGGTCAGAACATTCAGGAAAACTTCAAGTGAGACATAGAGCTTTGCCAGTAAAATCAGAAAGTGAAA... | pathogenic | 61,211 |
The mutation in gene FANCD2 at chromosome 3, position 10073251—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | AGAATATGGAGAAAAGAGAACCTTTGTACACTGTTGGTGGGAATGTCAATTAGTACAAGCACTATGGAGAACAGTTTGGAGTTTCCTCAAAAAACTAAAAATAGAATCACCATATGATCCAGGAATGCCACTGGTAGGTATATACCCAAAAGAAAGGAAATCAGTATACCAAGGAGATATCTGCACTCCCATGTTTATTGCAGCACTATTCACAATAGTCAAGATTTGGAAGCAACCTAAGTGTCCATCAGCGGGTGAATGGATAAAATGTGGTCCGTATACACAATGGAGTACTATTCAGCCATAAAAAACAATGAGAT... | AGAATATGGAGAAAAGAGAACCTTTGTACACTGTTGGTGGGAATGTCAATTAGTACAAGCACTATGGAGAACAGTTTGGAGTTTCCTCAAAAAACTAAAAATAGAATCACCATATGATCCAGGAATGCCACTGGTAGGTATATACCCAAAAGAAAGGAAATCAGTATACCAAGGAGATATCTGCACTCCCATGTTTATTGCAGCACTATTCACAATAGTCAAGATTTGGAAGCAACCTAAGTGTCCATCAGCGGGTGAATGGATAAAATGTGGTCCGTATACACAATGGAGTACTATTCAGCCATAAAAAACAATGAGAT... | pathogenic | 61,230 |
Variant at chromosome 3, position 10073261, gene FANCD2: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Fanconi_anemia_complementation_group_D2'] | GAAAAGAGAACCTTTGTACACTGTTGGTGGGAATGTCAATTAGTACAAGCACTATGGAGAACAGTTTGGAGTTTCCTCAAAAAACTAAAAATAGAATCACCATATGATCCAGGAATGCCACTGGTAGGTATATACCCAAAAGAAAGGAAATCAGTATACCAAGGAGATATCTGCACTCCCATGTTTATTGCAGCACTATTCACAATAGTCAAGATTTGGAAGCAACCTAAGTGTCCATCAGCGGGTGAATGGATAAAATGTGGTCCGTATACACAATGGAGTACTATTCAGCCATAAAAAACAATGAGATCCTGTTGTTT... | GAAAAGAGAACCTTTGTACACTGTTGGTGGGAATGTCAATTAGTACAAGCACTATGGAGAACAGTTTGGAGTTTCCTCAAAAAACTAAAAATAGAATCACCATATGATCCAGGAATGCCACTGGTAGGTATATACCCAAAAGAAAGGAAATCAGTATACCAAGGAGATATCTGCACTCCCATGTTTATTGCAGCACTATTCACAATAGTCAAGATTTGGAAGCAACCTAAGTGTCCATCAGCGGGTGAATGGATAAAATGTGGTCCGTATACACAATGGAGTACTATTCAGCCATAAAAAACAATGAGATCCTGTTGTTT... | pathogenic | 61,231 |
A genetic variant at chromosome 3, position 10073306, affecting gene FANCD2—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | CAAGCACTATGGAGAACAGTTTGGAGTTTCCTCAAAAAACTAAAAATAGAATCACCATATGATCCAGGAATGCCACTGGTAGGTATATACCCAAAAGAAAGGAAATCAGTATACCAAGGAGATATCTGCACTCCCATGTTTATTGCAGCACTATTCACAATAGTCAAGATTTGGAAGCAACCTAAGTGTCCATCAGCGGGTGAATGGATAAAATGTGGTCCGTATACACAATGGAGTACTATTCAGCCATAAAAAACAATGAGATCCTGTTGTTTGCAACAATACAGATGGAACTGGAGGACATTATGTTAAGTGAAATA... | CAAGCACTATGGAGAACAGTTTGGAGTTTCCTCAAAAAACTAAAAATAGAATCACCATATGATCCAGGAATGCCACTGGTAGGTATATACCCAAAAGAAAGGAAATCAGTATACCAAGGAGATATCTGCACTCCCATGTTTATTGCAGCACTATTCACAATAGTCAAGATTTGGAAGCAACCTAAGTGTCCATCAGCGGGTGAATGGATAAAATGTGGTCCGTATACACAATGGAGTACTATTCAGCCATAAAAAACAATGAGATCCTGTTGTTTGCAACAATACAGATGGAACTGGAGGACATTATGTTAAGTGAAATA... | pathogenic | 61,232 |
For chromosome 3, position 10074570, gene FANCD2: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | GCGCGCCTTGACCTCCCAAAGTGCTTGGGGTTACAGGCGCGAGCCACCCTGCCTGGCCACCATTTAGATTTTAAATGTTTGTTTTAGTTTTTTTCTGTTTGTTAGTTATATATCATTATTTAAAGTGGTTTTATGATAATTGATCATACTTAATATGATATTTCTGTGTTATCTCTGGCCATTTTGCTATGCCAAAACAATGTCAGATGACTTGAATATGTCTTATAAGCATTCAGCCATGCTTGGTAATTTTGGAAACTAGTTTTTAGCCAATGGAGTGACTGAATTTCAAGTCTAATGGTGGTGTGTAATTGGTACAC... | GCGCGCCTTGACCTCCCAAAGTGCTTGGGGTTACAGGCGCGAGCCACCCTGCCTGGCCACCATTTAGATTTTAAATGTTTGTTTTAGTTTTTTTCTGTTTGTTAGTTATATATCATTATTTAAAGTGGTTTTATGATAATTGATCATACTTAATATGATATTTCTGTGTTATCTCTGGCCATTTTGCTATGCCAAAACAATGTCAGATGACTTGAATATGTCTTATAAGCATTCAGCCATGCTTGGTAATTTTGGAAACTAGTTTTTAGCCAATGGAGTGACTGAATTTCAAGTCTAATGGTGGTGTGTAATTGGTACAC... | pathogenic | 61,243 |
Regarding the variant found on chromosome 3 at position 10074649 in gene FANCD2: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | TGTTTTAGTTTTTTTCTGTTTGTTAGTTATATATCATTATTTAAAGTGGTTTTATGATAATTGATCATACTTAATATGATATTTCTGTGTTATCTCTGGCCATTTTGCTATGCCAAAACAATGTCAGATGACTTGAATATGTCTTATAAGCATTCAGCCATGCTTGGTAATTTTGGAAACTAGTTTTTAGCCAATGGAGTGACTGAATTTCAAGTCTAATGGTGGTGTGTAATTGGTACACATTGAGCTTCAGCCTGCTGTTTGTTTCAGTCACCCCAGACTATGTCCCTCCTCTTGGAAACTTTGATGTGGAAACTTTA... | TGTTTTAGTTTTTTTCTGTTTGTTAGTTATATATCATTATTTAAAGTGGTTTTATGATAATTGATCATACTTAATATGATATTTCTGTGTTATCTCTGGCCATTTTGCTATGCCAAAACAATGTCAGATGACTTGAATATGTCTTATAAGCATTCAGCCATGCTTGGTAATTTTGGAAACTAGTTTTTAGCCAATGGAGTGACTGAATTTCAAGTCTAATGGTGGTGTGTAATTGGTACACATTGAGCTTCAGCCTGCTGTTTGTTTCAGTCACCCCAGACTATGTCCCTCCTCTTGGAAACTTTGATGTGGAAACTTTA... | pathogenic | 61,245 |
Mutation at chromosome 3, position 10081216, within FANCD2 (FA complementation group D2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Fanconi_anemia_complementation_group_D2'] | CAGGAGGCAGACGCTGCAGTGAACCAAGATCATGCTACTGCACTCCAGCCTGGGCATTAGAACAAGACTCTGTCTCAGAAATAAAAAAAAAAAAATAGGAAGTCTGAAACAGAAAATAGAAAGGCACTTGGAATAAGAAATGTATTTCTTTTTTTGAGACGGAGTCTCGCTGTGTCTCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCTGCAGCCTCCTGAGTAGCTGGGGACTACAGGCGCGCGCCACCACACCCAGCTAATTTTTGTATTTTTAG... | CAGGAGGCAGACGCTGCAGTGAACCAAGATCATGCTACTGCACTCCAGCCTGGGCATTAGAACAAGACTCTGTCTCAGAAATAAAAAAAAAAAAATAGGAAGTCTGAAACAGAAAATAGAAAGGCACTTGGAATAAGAAATGTATTTCTTTTTTTGAGACGGAGTCTCGCTGTGTCTCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCTGCAGCCTCCTGAGTAGCTGGGGACTACAGGCGCGCGCCACCACACCCAGCTAATTTTTGTATTTTTAG... | pathogenic | 61,253 |
Evaluate this variant at chromosome 3, position 10085880, gene FANCD2: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Fanconi_anemia_complementation_group_D2'] | GAGCCGAGATCCCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGGTATGTCCACCAGGGTCTGGTACAGGAATATTTTGAGCAATTTAGCCTGTGGTTTTACATAGTATATTCTAAACTTGTTTCCCATGCTTTTGTGTGTGTGTGAGAGACAGAGTCTCACTCTGTCGCTCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTATAACCTCTGCTGCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAATAGCTGAGATTACATGCGCCTGCCACTGCA... | GAGCCGAGATCCCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGGTATGTCCACCAGGGTCTGGTACAGGAATATTTTGAGCAATTTAGCCTGTGGTTTTACATAGTATATTCTAAACTTGTTTCCCATGCTTTTGTGTGTGTGTGAGAGACAGAGTCTCACTCTGTCGCTCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTATAACCTCTGCTGCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAATAGCTGAGATTACATGCGCCTGCCACTGCA... | pathogenic | 61,261 |
Is the genetic mutation found on chromosome 3 at position 10085885, within the gene FANCD2, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | GAGATCCCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGGTATGTCCACCAGGGTCTGGTACAGGAATATTTTGAGCAATTTAGCCTGTGGTTTTACATAGTATATTCTAAACTTGTTTCCCATGCTTTTGTGTGTGTGTGAGAGACAGAGTCTCACTCTGTCGCTCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTATAACCTCTGCTGCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAATAGCTGAGATTACATGCGCCTGCCACTGCACCTGG... | GAGATCCCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGGTATGTCCACCAGGGTCTGGTACAGGAATATTTTGAGCAATTTAGCCTGTGGTTTTACATAGTATATTCTAAACTTGTTTCCCATGCTTTTGTGTGTGTGTGAGAGACAGAGTCTCACTCTGTCGCTCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTATAACCTCTGCTGCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAATAGCTGAGATTACATGCGCCTGCCACTGCACCTGG... | pathogenic | 61,262 |
Mutation at chromosome 3, position 10085885, within FANCD2: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Fanconi_anemia_complementation_group_D2'] | GAGATCCCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGGTATGTCCACCAGGGTCTGGTACAGGAATATTTTGAGCAATTTAGCCTGTGGTTTTACATAGTATATTCTAAACTTGTTTCCCATGCTTTTGTGTGTGTGTGAGAGACAGAGTCTCACTCTGTCGCTCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTATAACCTCTGCTGCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAATAGCTGAGATTACATGCGCCTGCCACTGCACCTGG... | GAGATCCCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGGTATGTCCACCAGGGTCTGGTACAGGAATATTTTGAGCAATTTAGCCTGTGGTTTTACATAGTATATTCTAAACTTGTTTCCCATGCTTTTGTGTGTGTGTGAGAGACAGAGTCTCACTCTGTCGCTCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTATAACCTCTGCTGCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAATAGCTGAGATTACATGCGCCTGCCACTGCACCTGG... | pathogenic | 61,263 |
The mutation impacting FANCD2 on chromosome 3 at position 10087173: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia_complementation_group_D2'] | GACAAAATTATTCCTGTATTTTTGAAGAAGACTACATATCTCTAAAATATAGGGAATGAAGGAGAGCTTTTTGCCCTTCAAAGTAAACCTATGGCCCAGGCGTGGTGGCTCACCCCTGTGAAAAGAAAGAGGAAAGAAGAAAAGAAACCTATGAAGACTTCAGGAAAGATTACTTTGGATGTACTTCAGTTTCTACTCTGATACTTAGAGCTGTGATTGAATTTGGTACTTCAGTACTTTCCATTTCAATTCTTTTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCAGGCTGGAGT... | GACAAAATTATTCCTGTATTTTTGAAGAAGACTACATATCTCTAAAATATAGGGAATGAAGGAGAGCTTTTTGCCCTTCAAAGTAAACCTATGGCCCAGGCGTGGTGGCTCACCCCTGTGAAAAGAAAGAGGAAAGAAGAAAAGAAACCTATGAAGACTTCAGGAAAGATTACTTTGGATGTACTTCAGTTTCTACTCTGATACTTAGAGCTGTGATTGAATTTGGTACTTCAGTACTTTCCATTTCAATTCTTTTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCAGGCTGGAGT... | pathogenic | 61,268 |
Gene FANCD2 variant at chromosome 3, position 10087248—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | CTTCAAAGTAAACCTATGGCCCAGGCGTGGTGGCTCACCCCTGTGAAAAGAAAGAGGAAAGAAGAAAAGAAACCTATGAAGACTTCAGGAAAGATTACTTTGGATGTACTTCAGTTTCTACTCTGATACTTAGAGCTGTGATTGAATTTGGTACTTCAGTACTTTCCATTTCAATTCTTTTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAGCCTCCACCTCCCGAGTTCTAGCGATTCTTCTGCCTCAGCCTCTGGAG... | CTTCAAAGTAAACCTATGGCCCAGGCGTGGTGGCTCACCCCTGTGAAAAGAAAGAGGAAAGAAGAAAAGAAACCTATGAAGACTTCAGGAAAGATTACTTTGGATGTACTTCAGTTTCTACTCTGATACTTAGAGCTGTGATTGAATTTGGTACTTCAGTACTTTCCATTTCAATTCTTTTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAGCCTCCACCTCCCGAGTTCTAGCGATTCTTCTGCCTCAGCCTCTGGAG... | pathogenic | 61,272 |
Assess the variant on chromosome 3, position 10088578, impacting FANCD2: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CACCCAGGCTGGAGTGATCCCAGCTCACTGCACCCTCCACCTCCTGGGCTCAAGTGATTGTACTGCCTCAGCCTCCCAAGACGCTGGGATTACAGGCGCATGCTGACACACCCTACTAATTTTTATATTTTTGTAGAGATGTTTTCGACATGTGGCCAGGCTGGTCTCTAATTCCTGAGCTCAGGTGATCTGCCTGTCTCAGCCTAGCAAAGTGCTAGGATTACAGGCATAAGTCACCATGCCCGGCCTGTGAACCCAGATTTTACAAATTATTTTCAGTGTATTGCCTAAGGCTTTAAAGAGCAGATAATTTATCTAGG... | CACCCAGGCTGGAGTGATCCCAGCTCACTGCACCCTCCACCTCCTGGGCTCAAGTGATTGTACTGCCTCAGCCTCCCAAGACGCTGGGATTACAGGCGCATGCTGACACACCCTACTAATTTTTATATTTTTGTAGAGATGTTTTCGACATGTGGCCAGGCTGGTCTCTAATTCCTGAGCTCAGGTGATCTGCCTGTCTCAGCCTAGCAAAGTGCTAGGATTACAGGCATAAGTCACCATGCCCGGCCTGTGAACCCAGATTTTACAAATTATTTTCAGTGTATTGCCTAAGGCTTTAAAGAGCAGATAATTTATCTAGG... | benign | 61,279 |
Considering the genetic mutation at chromosome 3, position 10090443, impacting FANCD2: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAGAATGAGGTCAAGTTCCCATATGTAAGATTCCTTTGTCTTCTTTTCTAACAGCTTCCCTTGCCAGACAATTCCTCTGTCGGGTGTGGCCAAGTGGGGATAAAGAGAAGAGCAACATCTCTAATGACCAGCTCCATGCTCTGCTCTGGTGAGATGTTTGGTTTCTTCCAATGAGCCAAATAGCTTTTTTCTATTTTGCTACTGTTGTTTGTCAGAGACTGGACAAATGACCTTTTTAGTGGGAATTTGAAAACAATGAAGTAGGTTAAAAATGAACACAATTTGGAACATGTGGATCTTAAGATCCTCTGGTTCTGTTT... | AAGAATGAGGTCAAGTTCCCATATGTAAGATTCCTTTGTCTTCTTTTCTAACAGCTTCCCTTGCCAGACAATTCCTCTGTCGGGTGTGGCCAAGTGGGGATAAAGAGAAGAGCAACATCTCTAATGACCAGCTCCATGCTCTGCTCTGGTGAGATGTTTGGTTTCTTCCAATGAGCCAAATAGCTTTTTTCTATTTTGCTACTGTTGTTTGTCAGAGACTGGACAAATGACCTTTTTAGTGGGAATTTGAAAACAATGAAGTAGGTTAAAAATGAACACAATTTGGAACATGTGGATCTTAAGATCCTCTGGTTCTGTTT... | benign | 61,283 |
Variant chromosome 3, position 10092201, gene FANCD2: benign or pathogenic? Disease(s)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | CCCATCCTCTTACTAAGGACCCTAGTGAAAGGACATTTAGAGAGGTAGGGAAGGAAGCTACTTTTGGTTCCTGGTTCTTCCCAGGTAGTTCTAAGCAGTGCATCATGGTGTGGGCACGCATGCTTTTCCCGTCTTCTAGGCATACTTTTGTTGTTTTCTTCCGTGTGATGATGGCTGAACTAGAGAAGACGGTGAAAAAAATTGAGCCTGGCACAGCAGCAGACTCGCAGCAGGTGAGTAAGATAATAGTCACTTCAAGAAGTGGACTTTGGATTACTTGGAAGTTGCTGATTTTTTTTTTTTTTTTTTTTTTTTTTTTC... | CCCATCCTCTTACTAAGGACCCTAGTGAAAGGACATTTAGAGAGGTAGGGAAGGAAGCTACTTTTGGTTCCTGGTTCTTCCCAGGTAGTTCTAAGCAGTGCATCATGGTGTGGGCACGCATGCTTTTCCCGTCTTCTAGGCATACTTTTGTTGTTTTCTTCCGTGTGATGATGGCTGAACTAGAGAAGACGGTGAAAAAAATTGAGCCTGGCACAGCAGCAGACTCGCAGCAGGTGAGTAAGATAATAGTCACTTCAAGAAGTGGACTTTGGATTACTTGGAAGTTGCTGATTTTTTTTTTTTTTTTTTTTTTTTTTTTC... | pathogenic | 61,284 |
Variant in FANCD2, chromosome 3, position 10096374—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_D2'] | GTATGCCGCTCCTAGACTTCAGTTTTAGAAAACACCGGGTAAGAGCTAAGAGCAGAGAACAAAGATATGCACTGAAGAGTTGCTCAGAAGATATGTCCTTGGTGACTCCTGGGTGGGGCTGGGAGTGTTCTACCTGGGCTCCTCTGGTCCACTTCAGCTGTAGCCAGAGATCCCCAAATTGGACTGAATATTCCAAAGTAGGCTGAACTCCTCAGGCCCACTCTGGATCAAACCCACCTTTCTATTTCTTCTCCAGATCTGACAGTGGTCTTCCTTTTAGCTTGATTTTATTGTGCTACTGCACTCTCAGGTCCTCATGT... | GTATGCCGCTCCTAGACTTCAGTTTTAGAAAACACCGGGTAAGAGCTAAGAGCAGAGAACAAAGATATGCACTGAAGAGTTGCTCAGAAGATATGTCCTTGGTGACTCCTGGGTGGGGCTGGGAGTGTTCTACCTGGGCTCCTCTGGTCCACTTCAGCTGTAGCCAGAGATCCCCAAATTGGACTGAATATTCCAAAGTAGGCTGAACTCCTCAGGCCCACTCTGGATCAAACCCACCTTTCTATTTCTTCTCCAGATCTGACAGTGGTCTTCCTTTTAGCTTGATTTTATTGTGCTACTGCACTCTCAGGTCCTCATGT... | pathogenic | 61,300 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 10141769, gene VHL (von Hippel-Lindau tumor suppressor): what disease(s) if pathogenic? | pathogenic; ['Von_Hippel-Lindau_syndrome'] | ACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACGCCACTATGCCTGGCTAATTCTTTCATTTTTTATAGAGACAGGACCTCGCTATGTTGCCCAGGCTGGTTCCAACTCCTGAACTCAAGTGATCCACCTGCCTTGGGCTCCCAAAATCTCGGGATTACAGGCGTATAGTGCTAGGCCTTCACATTCTTATATACCCTTCTGTTTCCTTAGCTGTGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTG... | ACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACGCCACTATGCCTGGCTAATTCTTTCATTTTTTATAGAGACAGGACCTCGCTATGTTGCCCAGGCTGGTTCCAACTCCTGAACTCAAGTGATCCACCTGCCTTGGGCTCCCAAAATCTCGGGATTACAGGCGTATAGTGCTAGGCCTTCACATTCTTATATACCCTTCTGTTTCCTTAGCTGTGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTG... | pathogenic | 61,332 |
A mutation at chromosome position 10142008 on chromosome 3 in gene VHL (von Hippel-Lindau tumor suppressor): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Chuvash_polycythemia', 'Von_Hippel-Lindau_syndrome'] | TTCTGTTTCCTTAGCTGTGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGA... | TTCTGTTTCCTTAGCTGTGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGA... | pathogenic | 61,377 |
The chromosome 3, position 10142022 genetic variant in gene VHL (von Hippel-Lindau tumor suppressor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Chuvash_polycythemia', 'Von_Hippel-Lindau_syndrome'] | CTGTGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGA... | CTGTGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGA... | pathogenic | 61,383 |
For chromosome 3, position 10142025, gene VHL (von Hippel-Lindau tumor suppressor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Chuvash_polycythemia', 'Hereditary_cancer-predisposing_syndrome', 'Von_Hippel-Lindau_syndrome'] | TGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGT... | TGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGT... | pathogenic | 61,384 |
Clinical significance of chromosome 3, position 10142035, gene VHL (von Hippel-Lindau tumor suppressor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Von_Hippel-Lindau_syndrome'] | ATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGC... | ATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGC... | pathogenic | 61,392 |
Evaluate this variant at chromosome 3, position 10142037, gene VHL (von Hippel-Lindau tumor suppressor): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Chuvash_polycythemia', 'Hereditary_cancer-predisposing_syndrome', 'Von_Hippel-Lindau_syndrome'] | AATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTG... | AATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTG... | pathogenic | 61,394 |
A genetic alteration at chromosome 3, position 10142038, in gene VHL (von Hippel-Lindau tumor suppressor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Von_Hippel-Lindau_syndrome'] | ATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGA... | ATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGA... | pathogenic | 61,396 |
Mutation found at chromosome 3 position 10142050, gene VHL (von Hippel-Lindau tumor suppressor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Chuvash_polycythemia', 'Hereditary_cancer-predisposing_syndrome', 'Von_Hippel-Lindau_syndrome'] | TAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACT... | TAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACT... | pathogenic | 61,404 |
The mutation impacting VHL (von Hippel-Lindau tumor suppressor) on chromosome 3 at position 10142072: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Chuvash_polycythemia', 'Hereditary_cancer-predisposing_syndrome', 'Von_Hippel-Lindau_syndrome'] | ACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAA... | ACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAA... | pathogenic | 61,417 |
Does the genetic variant at chromosome 3, position 10142102, impacting gene VHL (von Hippel-Lindau tumor suppressor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Chuvash_polycythemia', 'Von_Hippel-Lindau_syndrome'] | TTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTA... | TTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTA... | pathogenic | 61,443 |
Variant at chromosome 3, position 10142123, gene VHL (von Hippel-Lindau tumor suppressor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Von_Hippel-Lindau_syndrome'] | TGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAA... | TGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAA... | pathogenic | 61,463 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 10142125, gene VHL (von Hippel-Lindau tumor suppressor): what disease(s) if pathogenic? | pathogenic; ['Chuvash_polycythemia', 'Hereditary_cancer-predisposing_syndrome', 'Von_Hippel-Lindau_syndrome'] | AGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACC... | AGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACC... | pathogenic | 61,467 |
Is chromosome 3, position 10142150, gene VHL (von Hippel-Lindau tumor suppressor) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Von_Hippel-Lindau_syndrome'] | TAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCA... | TAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCA... | pathogenic | 61,483 |
The mutation in gene VHL (von Hippel-Lindau tumor suppressor) at chromosome 3, position 10142175—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Chuvash_polycythemia', 'Von_Hippel-Lindau_syndrome'] | GGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAA... | GGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAA... | pathogenic | 61,495 |
Variant at chromosome position 10142872, chromosome 3, gene VHL: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAG... | CATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAG... | benign | 61,519 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 10146525, gene VHL: what disease(s) if pathogenic? | pathogenic; ['Chuvash_polycythemia', 'Hereditary_cancer-predisposing_syndrome', 'Von_Hippel-Lindau_syndrome'] | CCCTGTCTCTCTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTAC... | CCCTGTCTCTCTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTAC... | pathogenic | 61,537 |
Is the variant located on chromosome 3 at position 10146535, gene VHL, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Chuvash_polycythemia', 'Hereditary_cancer-predisposing_syndrome', 'Von_Hippel-Lindau_syndrome'] | CTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAA... | CTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAA... | pathogenic | 61,543 |
Determine whether the variant at chromosome 3, position 10146535, in gene VHL is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['VHL-related_disorder', 'Von_Hippel-Lindau_syndrome'] | CTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAA... | CTATCTTGTCTTTTTTTTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAA... | pathogenic | 61,545 |
Mutation at chromosome 3, position 10146551, within VHL: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Von_Hippel-Lindau_syndrome'] | TTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTAC... | TTTTTTTTTTTTGAGACAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTAC... | pathogenic | 61,550 |
Variant at chromosome 3, position 10146567, gene VHL: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Chuvash_polycythemia', 'Von_Hippel-Lindau_syndrome'] | CAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGC... | CAGGATGTCCTGCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGC... | pathogenic | 61,559 |
Does the genetic variant at chromosome 3, position 10146578, impacting gene VHL, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Von_Hippel-Lindau_syndrome'] | GCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGT... | GCTGTTGCCTGGGCTGGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGT... | pathogenic | 61,562 |
Is the genetic change at chromosome 3, position 10146593, within gene VHL benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Chuvash_polycythemia', 'Hereditary_cancer-predisposing_syndrome', 'Von_Hippel-Lindau_syndrome'] | GGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAG... | GGAGTGTGGAGGCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAG... | pathogenic | 61,570 |
Evaluate this variant at chromosome 3, position 10146604, gene VHL: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Von_Hippel-Lindau_syndrome'] | GCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTA... | GCTGGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTA... | pathogenic | 61,574 |
Does the variant on chromosome 3 at location 10146607 affecting gene VHL have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Chuvash_polycythemia', 'Von_Hippel-Lindau_syndrome'] | GGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAA... | GGAGTTTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAA... | pathogenic | 61,576 |
Variant in VHL, chromosome 3, position 10146612—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Chuvash_polycythemia', 'Von_Hippel-Lindau_syndrome'] | TTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGA... | TTGGTGGCATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGA... | pathogenic | 61,577 |
Evaluate if the mutation on chromosome 3 at position 10146620 in VHL is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Chuvash_polycythemia', 'Von_Hippel-Lindau_syndrome'] | ATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACA... | ATGATCACGGCTCATTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACA... | pathogenic | 61,581 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 10146634, gene VHL: what disease(s) if pathogenic? | pathogenic; ['Von_Hippel-Lindau_syndrome'] | TTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGT... | TTGCACCCTTAACCTGGGCTCAAGCAGTCCTCCCAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGT... | pathogenic | 61,587 |
The mutation impacting VHL on chromosome 3 at position 10146667: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAAATGG... | CAGAGCTTCAGCTTCCCAAAGTAGCTGGGACTATAGGCATGCTCCACTATGTCTGGCTAATTTCTTTTTTTATTTTTATTTTTAGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGAGACCTCATCTCTTTTTTATTTTTTTAAAATTTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATAGAGACCTCGTCTTAAAAAAAGAAAATAACATTACTTTTGAAGGTACTTAATGCACTGAATTGTACATTTAAAAATGG... | benign | 61,594 |
The chromosome 3, position 10149797 genetic variant in gene VHL: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Chuvash_polycythemia', 'Hereditary_cancer-predisposing_syndrome', 'Von_Hippel-Lindau_syndrome', 'likely other unspecified diseases'] | CCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGC... | CCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGC... | pathogenic | 61,609 |
Is the genetic variant on chromosome 3, position 10149805, gene VHL, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Von_Hippel-Lindau_syndrome'] | AACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGA... | AACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGA... | pathogenic | 61,615 |
Regarding the variant found on chromosome 3 at position 10149814 in gene VHL: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Chuvash_polycythemia', 'Von_Hippel-Lindau_syndrome'] | TCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAG... | TCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAG... | pathogenic | 61,626 |
Is the genetic change at chromosome 3, position 10149824, within gene VHL benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Chuvash_polycythemia', 'Hereditary_cancer-predisposing_syndrome', 'Von_Hippel-Lindau_syndrome'] | AAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTC... | AAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTC... | pathogenic | 61,636 |
Clinically, how would you classify the variant at chromosome 3, position 10149854, gene VHL: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Von_Hippel-Lindau_syndrome'] | GTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCC... | GTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCC... | pathogenic | 61,650 |
Chromosome 3, position 10149855, gene VHL: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Chuvash_polycythemia', 'Hereditary_cancer-predisposing_syndrome', 'Nonpapillary_renal_cell_carcinoma', 'Pheochromocytoma', 'Von_Hippel-Lindau_syndrome'] | TGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCC... | TGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCC... | pathogenic | 61,651 |
Does the variant impacting VHL on chromosome 3, position 10149912, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Chuvash_polycythemia', 'Hereditary_cancer-predisposing_syndrome', 'Von_Hippel-Lindau_syndrome'] | GGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAA... | GGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAA... | pathogenic | 61,672 |
Assess the variant on chromosome 3, position 10375513, impacting ATP2B2 (ATPase plasma membrane Ca2+ transporting 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic | TATAGGGTACTGAGCACTTGAAATGTGGCTATTCTGAAGTGAAATGTGCTGTGAGTGCAAAATATACATCAGATTTAGAGGATATTTTGAAAAAATGTAAAAGTAGTAGTTCATTTATAATTTTTATAGTGATCACACATTGGATTGATAATAAGTTGGATAATAGTGTTGGATTTGACATACTGGGTTAAGTACATTATTAAAATTAACTTCACTGGTTTCTTTTTCCTTTTTTAAAATAATGTAGCTACTAGGAATTTTTTCTTCTTTTTTAAAAAATTATTTTATTTTGTAGAGATGGGGTCTCACTATTTGCCCAA... | TATAGGGTACTGAGCACTTGAAATGTGGCTATTCTGAAGTGAAATGTGCTGTGAGTGCAAAATATACATCAGATTTAGAGGATATTTTGAAAAAATGTAAAAGTAGTAGTTCATTTATAATTTTTATAGTGATCACACATTGGATTGATAATAAGTTGGATAATAGTGTTGGATTTGACATACTGGGTTAAGTACATTATTAAAATTAACTTCACTGGTTTCTTTTTCCTTTTTTAAAATAATGTAGCTACTAGGAATTTTTTCTTCTTTTTTAAAAAATTATTTTATTTTGTAGAGATGGGGTCTCACTATTTGCCCAA... | pathogenic | 61,743 |
The mutation impacting SLC6A1 on chromosome 3 at position 11017406: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Epilepsy_with_myoclonic_atonic_seizures', 'Inborn_genetic_diseases'] | GCAGCCCCTCTGTTGGTTTCTCTTTTCTTCTGATAAAATTATGGAATGTCTTCTCCACGCTGCCCTCATCCCACGCCCACAGCTGTCCCGAGGGCAGCGGGCCCCACTCCTGCATGTTCCCAGCACCCCAAGGGCCAGTGCCATGCTGCATGGTCTCGCTGCGGCCACCCTGGCTGGGGACGCTCTGCGGGACACGCGCACAGCCCAGACGCCCTGGCAGGCTTCCTGCACCCCTGCTGCCCTCTGTAGGAGCTGCCTGCCTGCCCCATCGCTGCTTCACCATCCCTCCTCTCCTCCCCTTCTCTGCTTTGCAGGATCTC... | GCAGCCCCTCTGTTGGTTTCTCTTTTCTTCTGATAAAATTATGGAATGTCTTCTCCACGCTGCCCTCATCCCACGCCCACAGCTGTCCCGAGGGCAGCGGGCCCCACTCCTGCATGTTCCCAGCACCCCAAGGGCCAGTGCCATGCTGCATGGTCTCGCTGCGGCCACCCTGGCTGGGGACGCTCTGCGGGACACGCGCACAGCCCAGACGCCCTGGCAGGCTTCCTGCACCCCTGCTGCCCTCTGTAGGAGCTGCCTGCCTGCCCCATCGCTGCTTCACCATCCCTCCTCTCCTCCCCTTCTCTGCTTTGCAGGATCTC... | pathogenic | 61,783 |
Clinical classification of chromosome 3, position 11017934, gene SLC6A1: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Epilepsy_with_myoclonic_atonic_seizures'] | AAGCACACACAACAGCAGTACTTGGTAGTAGTATTGAGTAGTAGTACTGAGCAGTAGTACTCAGCTGGTAGAAGGCAGACCGGAGATTTGAACTCAGGACTAGTCTCAGCCCAATTTCCTCCACTGTACTGTACCCCACGCTGCCCCTGGAAATAAAAAGGTAAGAAGGCTGCAGAGTGTCAGTAGAATATCTTAGGGTGATTGAAGGCTGAAAGAGGTCATCTAAACCAGTGGCCCTTAGCTGAGGGCCAGGGCTGGGCTACCAGTATAAGAATCTCCTTTGGCAGAGCTTGTTAAAAGTATAGACTCAGGACTTCCTG... | AAGCACACACAACAGCAGTACTTGGTAGTAGTATTGAGTAGTAGTACTGAGCAGTAGTACTCAGCTGGTAGAAGGCAGACCGGAGATTTGAACTCAGGACTAGTCTCAGCCCAATTTCCTCCACTGTACTGTACCCCACGCTGCCCCTGGAAATAAAAAGGTAAGAAGGCTGCAGAGTGTCAGTAGAATATCTTAGGGTGATTGAAGGCTGAAAGAGGTCATCTAAACCAGTGGCCCTTAGCTGAGGGCCAGGGCTGGGCTACCAGTATAAGAATCTCCTTTGGCAGAGCTTGTTAAAAGTATAGACTCAGGACTTCCTG... | pathogenic | 61,792 |
Benign or pathogenic: chromosome 3, position 11022384, gene SLC6A1 (solute carrier family 6 member 1) variant? Disease(s) if pathogenic? | pathogenic; ['Epilepsy_with_myoclonic_atonic_seizures', 'Inborn_genetic_diseases', 'SLC6A1-related_neurodevelopmental_disorder'] | CATCAGGGGATGGCAGGGACGGGGCATGTCAGCCAGAGCCCGGCAGGAGACAGAGGCCCCTCGGAGGGGTAACAGAAGAGGTGGATAAAGGGGCTACAGTCATGTGTCACATCATGACATTTTGGTCATCAGTGGACCACATATGCAACGATGGTCCCATAAGATTATAATACCATATTTTTACTTTACCTTTTCTACGTCTAGACATGTCTAGTACCGAAATGCATTGTGTTACAGTTGCGTACAATATTCAGTACAGTCATGTGCTGTACAGGTTTGTAGTCTAGGAGCAATAGGCCACACCGTATGGCATAGGAGTG... | CATCAGGGGATGGCAGGGACGGGGCATGTCAGCCAGAGCCCGGCAGGAGACAGAGGCCCCTCGGAGGGGTAACAGAAGAGGTGGATAAAGGGGCTACAGTCATGTGTCACATCATGACATTTTGGTCATCAGTGGACCACATATGCAACGATGGTCCCATAAGATTATAATACCATATTTTTACTTTACCTTTTCTACGTCTAGACATGTCTAGTACCGAAATGCATTGTGTTACAGTTGCGTACAATATTCAGTACAGTCATGTGCTGTACAGGTTTGTAGTCTAGGAGCAATAGGCCACACCGTATGGCATAGGAGTG... | pathogenic | 61,814 |
Gene SLC6A1 (solute carrier family 6 member 1) variant at chromosome position 11025797 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Epilepsy_with_myoclonic_atonic_seizures', 'Intellectual_disability'] | TCCCCTCATCTGTTCAATGGTCACAATAACAGTACCTTACAGGGTTGTCCCAAAGACTGAGGGAGATGAGTAGAATGCTTAGCATATGCCTTACACATAGTAAGCACTCAATACATAGTATCAATTATAATCATTTTGGAGTGGTAATTAGAGTTCGTGCTACATTAGGAGACTGGCCACTTCTTGGGGACAGAGAGTAGGGCCCCCTCACTGCATATATTGAGGATGTCAACCAATCCATCCACAAGCATTTATTGAATACCTACTATGTGCCTGGCTTCATGCTGAACACGGAAGGCACAGGGAAGTACGAGACCAAG... | TCCCCTCATCTGTTCAATGGTCACAATAACAGTACCTTACAGGGTTGTCCCAAAGACTGAGGGAGATGAGTAGAATGCTTAGCATATGCCTTACACATAGTAAGCACTCAATACATAGTATCAATTATAATCATTTTGGAGTGGTAATTAGAGTTCGTGCTACATTAGGAGACTGGCCACTTCTTGGGGACAGAGAGTAGGGCCCCCTCACTGCATATATTGAGGATGTCAACCAATCCATCCACAAGCATTTATTGAATACCTACTATGTGCCTGGCTTCATGCTGAACACGGAAGGCACAGGGAAGTACGAGACCAAG... | pathogenic | 61,834 |
Evaluate if the mutation on chromosome 3 at position 11028855 in SLC6A1 (solute carrier family 6 member 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TACCTAAGTGTCAGCTGGTCTGAGAAATAAAGGGAAAGAGTACAAAAGAGAGAAATTTTAAAGCTGGATGTCTGGGGGAGACATCACATGATGCCCCCGAAGCTGTAAAACCAGCAAGTTTTTATTCATGATTTTCAAAAGGGGAGGGAGTGTATGAATAGGGTGTGGGTCACAGAGATCACATGCTCACAAGGTAATAAAATATCACAAGGCAAATGGAGGCAGGGCGAGATCACAGGACCAGGGCAGAATTAAAATTGCTAATGAAGTTTCGGGCACACATTGTCATTGAAAACATCTTATCAGGAGACAGGGTTTGA... | TACCTAAGTGTCAGCTGGTCTGAGAAATAAAGGGAAAGAGTACAAAAGAGAGAAATTTTAAAGCTGGATGTCTGGGGGAGACATCACATGATGCCCCCGAAGCTGTAAAACCAGCAAGTTTTTATTCATGATTTTCAAAAGGGGAGGGAGTGTATGAATAGGGTGTGGGTCACAGAGATCACATGCTCACAAGGTAATAAAATATCACAAGGCAAATGGAGGCAGGGCGAGATCACAGGACCAGGGCAGAATTAAAATTGCTAATGAAGTTTCGGGCACACATTGTCATTGAAAACATCTTATCAGGAGACAGGGTTTGA... | benign | 61,865 |
The genetic variant at chromosome 3, position 11028856, affecting gene SLC6A1 (solute carrier family 6 member 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | ACCTAAGTGTCAGCTGGTCTGAGAAATAAAGGGAAAGAGTACAAAAGAGAGAAATTTTAAAGCTGGATGTCTGGGGGAGACATCACATGATGCCCCCGAAGCTGTAAAACCAGCAAGTTTTTATTCATGATTTTCAAAAGGGGAGGGAGTGTATGAATAGGGTGTGGGTCACAGAGATCACATGCTCACAAGGTAATAAAATATCACAAGGCAAATGGAGGCAGGGCGAGATCACAGGACCAGGGCAGAATTAAAATTGCTAATGAAGTTTCGGGCACACATTGTCATTGAAAACATCTTATCAGGAGACAGGGTTTGAG... | ACCTAAGTGTCAGCTGGTCTGAGAAATAAAGGGAAAGAGTACAAAAGAGAGAAATTTTAAAGCTGGATGTCTGGGGGAGACATCACATGATGCCCCCGAAGCTGTAAAACCAGCAAGTTTTTATTCATGATTTTCAAAAGGGGAGGGAGTGTATGAATAGGGTGTGGGTCACAGAGATCACATGCTCACAAGGTAATAAAATATCACAAGGCAAATGGAGGCAGGGCGAGATCACAGGACCAGGGCAGAATTAAAATTGCTAATGAAGTTTCGGGCACACATTGTCATTGAAAACATCTTATCAGGAGACAGGGTTTGAG... | benign | 61,867 |
Considering the genetic mutation at chromosome 3, position 11028856, impacting SLC6A1 (solute carrier family 6 member 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ACCTAAGTGTCAGCTGGTCTGAGAAATAAAGGGAAAGAGTACAAAAGAGAGAAATTTTAAAGCTGGATGTCTGGGGGAGACATCACATGATGCCCCCGAAGCTGTAAAACCAGCAAGTTTTTATTCATGATTTTCAAAAGGGGAGGGAGTGTATGAATAGGGTGTGGGTCACAGAGATCACATGCTCACAAGGTAATAAAATATCACAAGGCAAATGGAGGCAGGGCGAGATCACAGGACCAGGGCAGAATTAAAATTGCTAATGAAGTTTCGGGCACACATTGTCATTGAAAACATCTTATCAGGAGACAGGGTTTGAG... | ACCTAAGTGTCAGCTGGTCTGAGAAATAAAGGGAAAGAGTACAAAAGAGAGAAATTTTAAAGCTGGATGTCTGGGGGAGACATCACATGATGCCCCCGAAGCTGTAAAACCAGCAAGTTTTTATTCATGATTTTCAAAAGGGGAGGGAGTGTATGAATAGGGTGTGGGTCACAGAGATCACATGCTCACAAGGTAATAAAATATCACAAGGCAAATGGAGGCAGGGCGAGATCACAGGACCAGGGCAGAATTAAAATTGCTAATGAAGTTTCGGGCACACATTGTCATTGAAAACATCTTATCAGGAGACAGGGTTTGAG... | benign | 61,868 |
Classify the chromosome 3 variant at position 11028856 affecting gene SLC6A1 (solute carrier family 6 member 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ACCTAAGTGTCAGCTGGTCTGAGAAATAAAGGGAAAGAGTACAAAAGAGAGAAATTTTAAAGCTGGATGTCTGGGGGAGACATCACATGATGCCCCCGAAGCTGTAAAACCAGCAAGTTTTTATTCATGATTTTCAAAAGGGGAGGGAGTGTATGAATAGGGTGTGGGTCACAGAGATCACATGCTCACAAGGTAATAAAATATCACAAGGCAAATGGAGGCAGGGCGAGATCACAGGACCAGGGCAGAATTAAAATTGCTAATGAAGTTTCGGGCACACATTGTCATTGAAAACATCTTATCAGGAGACAGGGTTTGAG... | ACCTAAGTGTCAGCTGGTCTGAGAAATAAAGGGAAAGAGTACAAAAGAGAGAAATTTTAAAGCTGGATGTCTGGGGGAGACATCACATGATGCCCCCGAAGCTGTAAAACCAGCAAGTTTTTATTCATGATTTTCAAAAGGGGAGGGAGTGTATGAATAGGGTGTGGGTCACAGAGATCACATGCTCACAAGGTAATAAAATATCACAAGGCAAATGGAGGCAGGGCGAGATCACAGGACCAGGGCAGAATTAAAATTGCTAATGAAGTTTCGGGCACACATTGTCATTGAAAACATCTTATCAGGAGACAGGGTTTGAG... | benign | 61,869 |
Does the variant on chromosome 3 at location 11031175 affecting gene SLC6A1 (solute carrier family 6 member 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic | CTGCTGGGCCTCCCGTCCTTCCTTAGAGGGCCAGGCTTTGGGTGGGTTGGGGCTGGGGCTGCTGCAGGTGGCTGACCTCTGTTCCCACCTGAAGTTCTGCACTGTGGAGGGCTTCATCACAGCCCTGGTGGATGAGTACCCCAGGCTCCTCCGCAACCGCAGAGAGCTCTTCATTGCTGCTGTCTGCATCATCTCCTACCTGATCGGTCTCTCTAACATCACTCAGGTAAGCTCAGTAAGCACCTGGCACTCCCCCAGCACTGCCCAGGGCCATGCCCAGGGCCTCCTCTCCCCTCCTCTGTTGTATCCCACCTTTCCTG... | CTGCTGGGCCTCCCGTCCTTCCTTAGAGGGCCAGGCTTTGGGTGGGTTGGGGCTGGGGCTGCTGCAGGTGGCTGACCTCTGTTCCCACCTGAAGTTCTGCACTGTGGAGGGCTTCATCACAGCCCTGGTGGATGAGTACCCCAGGCTCCTCCGCAACCGCAGAGAGCTCTTCATTGCTGCTGTCTGCATCATCTCCTACCTGATCGGTCTCTCTAACATCACTCAGGTAAGCTCAGTAAGCACCTGGCACTCCCCCAGCACTGCCCAGGGCCATGCCCAGGGCCTCCTCTCCCCTCCTCTGTTGTATCCCACCTTTCCTG... | pathogenic | 61,877 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 11034609, gene SLC6A1 (solute carrier family 6 member 1): what disease(s) if pathogenic? | pathogenic; ['Epilepsy_with_myoclonic_atonic_seizures'] | TGTGAATAAACACGAGTGCAAATATCTTTTTGATATAATAATTTCTTTTCCTTTGGATAGATAGCCAGTAGTGGGATTGCTGGATCAAATGGTGGTTCTATTTCTGATTCTTTGAGAAATCTCTGTACTGGTTTCCATAGAGGTTGCACTAATTTACACTCCCAATAACACCTTCTCTCTCTAACTGTTCCAACACGGTCAGATCCTCACTGGTCAGTGACTCTGCTTATAATTTGAGCAGTGCCCGAAGCCGCTCTGGTGAACTTCAAGACACCAGTTTGGGGTTTGGGGTTTTTCTTTTTCATGAGATTTGCAGTTCT... | TGTGAATAAACACGAGTGCAAATATCTTTTTGATATAATAATTTCTTTTCCTTTGGATAGATAGCCAGTAGTGGGATTGCTGGATCAAATGGTGGTTCTATTTCTGATTCTTTGAGAAATCTCTGTACTGGTTTCCATAGAGGTTGCACTAATTTACACTCCCAATAACACCTTCTCTCTCTAACTGTTCCAACACGGTCAGATCCTCACTGGTCAGTGACTCTGCTTATAATTTGAGCAGTGCCCGAAGCCGCTCTGGTGAACTTCAAGACACCAGTTTGGGGTTTGGGGTTTTTCTTTTTCATGAGATTTGCAGTTCT... | pathogenic | 61,894 |
Is the chromosome 3, position 12433985 variant in PPARG (peroxisome proliferator activated receptor gamma) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['PPARG-related_disorder', 'PPARG-related_familial_partial_lipodystrophy'] | AAAAAAGCGTTAAGTTAAGGAGCGTGAATAAAAATAATACATTTCATATTCTAAGACAATATCATCTACAACTTTATTCCAATATAAATTACTAAAACTTTACCATATAAGTAGTAGAAAGCCTGAATAGATAAAAGCTATGGAAGAAAAATTAAAGATAGTGATAGATTTATCACCAAGCTCAGATGGTTCTGCAAACAAATTCTAAGAAACCGTCAGGGAACAGATCATTACTGCGTTGACACAGAAGGCAAACCTCTCAACTTGGTGTATAAGGCTAGTTAACATTGTTACTAAAACAGGCAAAGAATGGCCCCCAA... | AAAAAAGCGTTAAGTTAAGGAGCGTGAATAAAAATAATACATTTCATATTCTAAGACAATATCATCTACAACTTTATTCCAATATAAATTACTAAAACTTTACCATATAAGTAGTAGAAAGCCTGAATAGATAAAAGCTATGGAAGAAAAATTAAAGATAGTGATAGATTTATCACCAAGCTCAGATGGTTCTGCAAACAAATTCTAAGAAACCGTCAGGGAACAGATCATTACTGCGTTGACACAGAAGGCAAACCTCTCAACTTGGTGTATAAGGCTAGTTAACATTGTTACTAAAACAGGCAAAGAATGGCCCCCAA... | pathogenic | 61,922 |
A mutation at chromosome position 12503305 on chromosome 3 in gene TSEN2 (tRNA splicing endonuclease subunit 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Pontocerebellar_hypoplasia_type_2B', 'Pontoneocerebellar_hypoplasia'] | CCACATTTTATAGGTGGGAAAATTGAAGCACGGAGAAGTTAAGTAATTTGCATTGCCACACAGTTATAAGTAACAGGGCTGGACACAAAATGTGCCATACCAAAGTCACGGTGCCGTACTGACTCTCAGGTATTAGGGTAGCCTTACCAGGTGTTAATCTTTAGGATACAATTCCCAGTATATAGGGAGGCATCCCTGATGTTCATCCTCATGTGGGGTGAACAGGGTATAGACAGCTTTGGGATTCTTAGGAATCAGGGTTAAGCAACCACTAGTCTCTTTTTAGGTACAGCAGAAGCCAATGTCCTTGTTGAACTGTG... | CCACATTTTATAGGTGGGAAAATTGAAGCACGGAGAAGTTAAGTAATTTGCATTGCCACACAGTTATAAGTAACAGGGCTGGACACAAAATGTGCCATACCAAAGTCACGGTGCCGTACTGACTCTCAGGTATTAGGGTAGCCTTACCAGGTGTTAATCTTTAGGATACAATTCCCAGTATATAGGGAGGCATCCCTGATGTTCATCCTCATGTGGGGTGAACAGGGTATAGACAGCTTTGGGATTCTTAGGAATCAGGGTTAAGCAACCACTAGTCTCTTTTTAGGTACAGCAGAAGCCAATGTCCTTGTTGAACTGTG... | pathogenic | 61,950 |
Chromosome 3, position 12516658, gene TSEN2 (tRNA splicing endonuclease subunit 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Pontocerebellar_hypoplasia_type_2B', 'Pontoneocerebellar_hypoplasia'] | TAAAGTAGTGGTCCCTCGTATCTGTCAGTGTTTATCAAATTATAAATTAAAACAAAAATGTTGAGTATCAGTTTAACACATTTAAAAATAATAATAGTGATGTCTTCAACAGCACATATACTAAAATTGGAACAATGCAGAGATTAGTATGACCCCTGCCCACGGATGACACAAGTTTGTGAAGCCTTCCATATTAAAAACAACAACAACAACAACCCATACCTTGACATAAATACTTTAATGTAAGTTTTTTATGAAAAATAACTAATTTTCCAAAACAAAAAATTTGGAAGAGGCTTCGTTTTTCATTTTTGCAAGTC... | TAAAGTAGTGGTCCCTCGTATCTGTCAGTGTTTATCAAATTATAAATTAAAACAAAAATGTTGAGTATCAGTTTAACACATTTAAAAATAATAATAGTGATGTCTTCAACAGCACATATACTAAAATTGGAACAATGCAGAGATTAGTATGACCCCTGCCCACGGATGACACAAGTTTGTGAAGCCTTCCATATTAAAAACAACAACAACAACAACCCATACCTTGACATAAATACTTTAATGTAAGTTTTTTATGAAAAATAACTAATTTTCCAAAACAAAAAATTTGGAAGAGGCTTCGTTTTTCATTTTTGCAAGTC... | pathogenic | 61,966 |
Does the variant impacting RAF1 (Raf-1 proto-oncogene, serine/threonine kinase) on chromosome 3, position 12585110, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATTGAGAACTCAAATATACGTGCACTTACATGTGTGGTTCGTACTCAAGTGATCTATTATCTAGCTGCAAAGCCTGGCTTTGATTTGAAATTTTGTAAAAATTTCATGGCACCCAAGGTTTCTGATTCTGACCCAGCAGTGGTCCTGAAGAGAGCTGATGGCAAGTCTTGTAGTCATTTTGATTTTAATTGAAGGGTGAGCATAACCTTGTGAACCAGCACTAGCTTGTTCCAAGCTGGAATTTATCTAATCTATTTTTGTGTTTAAAAAAGCTGTACCTACCAAATAAATAAATAGTTTATAAAATGTATTACTTAAGG... | ATTGAGAACTCAAATATACGTGCACTTACATGTGTGGTTCGTACTCAAGTGATCTATTATCTAGCTGCAAAGCCTGGCTTTGATTTGAAATTTTGTAAAAATTTCATGGCACCCAAGGTTTCTGATTCTGACCCAGCAGTGGTCCTGAAGAGAGCTGATGGCAAGTCTTGTAGTCATTTTGATTTTAATTGAAGGGTGAGCATAACCTTGTGAACCAGCACTAGCTTGTTCCAAGCTGGAATTTATCTAATCTATTTTTGTGTTTAAAAAAGCTGTACCTACCAAATAAATAAATAGTTTATAAAATGTATTACTTAAGG... | benign | 62,015 |
A genetic alteration at chromosome 3, position 12599669, in gene RAF1 (Raf-1 proto-oncogene, serine/threonine kinase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TATTCTGCAACTGGCTGAGCACAGTGGCTCACACCTGCAATCCCAGTACTTTGGGAGGCCGAGGCAGGCGGATCGCTTGAGCTCATGATTTCGAGACCAGTCTAGGAAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCGGGTGTGGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTAGCTTGAGCCCAGGAGGCAGAGACTGCAGTAAGCCAAGATTGTGCCACTACTCCAGCCTGGGCAACAGAGCCAGATCTTGTCTCTAAATACATATAAATAAATATTCT... | TATTCTGCAACTGGCTGAGCACAGTGGCTCACACCTGCAATCCCAGTACTTTGGGAGGCCGAGGCAGGCGGATCGCTTGAGCTCATGATTTCGAGACCAGTCTAGGAAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCGGGTGTGGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTAGCTTGAGCCCAGGAGGCAGAGACTGCAGTAAGCCAAGATTGTGCCACTACTCCAGCCTGGGCAACAGAGCCAGATCTTGTCTCTAAATACATATAAATAAATATTCT... | benign | 62,060 |
Benign or pathogenic: chromosome 3, position 12608925, gene RAF1 (Raf-1 proto-oncogene, serine/threonine kinase) variant? Disease(s) if pathogenic? | benign | GACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATTCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGTGTGCATTTCTAGGAAATACTGGTCCTGTGTCTAGCTATATCAAAATAATATTTTTCAAACTACAGTATAACATTTCACAAACTATGTCACACACAGCTTCTCTGGAAACATTCCATCTTGAAAATGCATAGATAAAAGACTAAAATAGAAGGAATAAATCACAGAAAAGTGAGTAATTAGGCACCTTTTTTCCATGAGGTGG... | GACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATTCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGTGTGCATTTCTAGGAAATACTGGTCCTGTGTCTAGCTATATCAAAATAATATTTTTCAAACTACAGTATAACATTTCACAAACTATGTCACACACAGCTTCTCTGGAAACATTCCATCTTGAAAATGCATAGATAAAAGACTAAAATAGAAGGAATAAATCACAGAAAAGTGAGTAATTAGGCACCTTTTTTCCATGAGGTGG... | benign | 62,142 |
Regarding the variant at chromosome 3 and position 12609348, affecting gene RAF1 (Raf-1 proto-oncogene, serine/threonine kinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ATGTGGTTATGGTTAATGACAACACTGAGATTTTGACATATGTCTGTTAGACTCAAAAGCTTGTGCCGCCGGATGCGGTGGCTCACACCTGTAACCACAACACTTTGGAAGGCCAAGGCGGACAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGCTGAAACCCCGTCTCTAGAAAAAATACAAAAATTAGCTAGGCATGATGGCATACACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATTACTTGAACCCGAGAGGTCGAGGCTACAGTGAGCTGTGATCATGCCACTGCACTCCAC... | ATGTGGTTATGGTTAATGACAACACTGAGATTTTGACATATGTCTGTTAGACTCAAAAGCTTGTGCCGCCGGATGCGGTGGCTCACACCTGTAACCACAACACTTTGGAAGGCCAAGGCGGACAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGCTGAAACCCCGTCTCTAGAAAAAATACAAAAATTAGCTAGGCATGATGGCATACACTTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATTACTTGAACCCGAGAGGTCGAGGCTACAGTGAGCTGTGATCATGCCACTGCACTCCAC... | benign | 62,149 |
Benign or pathogenic: chromosome 3, position 12618597, gene RAF1 (Raf-1 proto-oncogene, serine/threonine kinase) variant? Disease(s) if pathogenic? | benign | TTAATTAAAGTTAGACTTTTGAGTTTTGCCTTCAGTTCAAAATGCACCTAAGTATTCAACACTACACTTGGGAGGCTCCTTAGGTTCACAAAAAAAGTATAAACAATTTATTAACAAATTGGGAAGAGTGGAACTGTTAGAAGCAAACAGAAAACTCTGGACTGGGGTTCCCCACCTCAGAACCTTGCTTCACCTGACTATATGGAATAAACACAATGCATTGATTTTACACAAAGAACAGAGGATGGGAAAGGAAGAGGCATGGAAGTTTTGAACCCAAGTTTTCTCAAAAGTTCCACCAAGCAAAACCAATGCAATTT... | TTAATTAAAGTTAGACTTTTGAGTTTTGCCTTCAGTTCAAAATGCACCTAAGTATTCAACACTACACTTGGGAGGCTCCTTAGGTTCACAAAAAAAGTATAAACAATTTATTAACAAATTGGGAAGAGTGGAACTGTTAGAAGCAAACAGAAAACTCTGGACTGGGGTTCCCCACCTCAGAACCTTGCTTCACCTGACTATATGGAATAAACACAATGCATTGATTTTACACAAAGAACAGAGGATGGGAAAGGAAGAGGCATGGAAGTTTTGAACCCAAGTTTTCTCAAAAGTTCCACCAAGCAAAACCAATGCAATTT... | benign | 62,168 |
Mutation at chromosome 3, position 12664121, within RAF1 (Raf-1 proto-oncogene, serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CCAGCAAGCACGTTGGGAGGGAGAGGTGGAAGCAGGAGGATCGCCTGAGCCCAGGAGTTTGAGACCAGCCTAGGCAACACTGCCAGACTCCATCTCTACTATTTTTTTTTTAATTAGCCATGTGTGGTGGCACCTGTCTGTAGTCCCAGCTACTCAGGAGGCAAAGGCAGGAGAACTGCTTAAGCCCAGGAGTTAGAGGCTGCAACCGAGCTATGATCATGCCACTGCACTCTAGCCTGGGCGACAGAGTGAGATCCTGTTCCTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTTGCATTGTTCTGAAAAA... | CCAGCAAGCACGTTGGGAGGGAGAGGTGGAAGCAGGAGGATCGCCTGAGCCCAGGAGTTTGAGACCAGCCTAGGCAACACTGCCAGACTCCATCTCTACTATTTTTTTTTTAATTAGCCATGTGTGGTGGCACCTGTCTGTAGTCCCAGCTACTCAGGAGGCAAAGGCAGGAGAACTGCTTAAGCCCAGGAGTTAGAGGCTGCAACCGAGCTATGATCATGCCACTGCACTCTAGCCTGGGCGACAGAGTGAGATCCTGTTCCTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTTGCATTGTTCTGAAAAA... | benign | 62,187 |
Does the variant on chromosome 3 at location 14130816 affecting gene TMEM43 (transmembrane protein 43) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TCCTAGGTATATTCCTACGGGAAATGAAAGCACATGTCTGCATAAAGGTTCATGTATGAATATTCACAGCAGCATTATTCATAACAGCCAAAACCTGGAAGCTGTCAAGATACCCATCCACTGACGAATGATTCAGCACACTGTGGTATAGTCATAAATGGAATACTACTCAGCCATGAAAAGGAACAAATTCCTGATAAACACCACAACATGAATGAATTGCAAAAGCAGTGCTCTGAGTCCAAGAAGCTGGGCAGAAAGGAGTTGGTGCCCTGATTCCATTTTTCTCAAGTTGTAGAAGAAACAAACTAATCTACGGT... | TCCTAGGTATATTCCTACGGGAAATGAAAGCACATGTCTGCATAAAGGTTCATGTATGAATATTCACAGCAGCATTATTCATAACAGCCAAAACCTGGAAGCTGTCAAGATACCCATCCACTGACGAATGATTCAGCACACTGTGGTATAGTCATAAATGGAATACTACTCAGCCATGAAAAGGAACAAATTCCTGATAAACACCACAACATGAATGAATTGCAAAAGCAGTGCTCTGAGTCCAAGAAGCTGGGCAGAAAGGAGTTGGTGCCCTGATTCCATTTTTCTCAAGTTGTAGAAGAAACAAACTAATCTACGGT... | benign | 62,261 |
The chromosome 3, position 14132613 genetic variant in gene TMEM43 (transmembrane protein 43): benign or pathogenic? If pathogenic, indicate disease(s). | benign | ACCACTGGGGCAGTGCTAAGATTGGTGGGGGCTAGTGGGAACCAATGGGGCAGTAGGAAGAAGTCTCCCTGGGAAAGCAGGAATCTGGGTTCCAGTCCTTACTCTCCACTTGCTAGACCTCAGTTTTCCAACTGTACGGTGGGGAGATGGGTCTCAGCGCTCCCGGAGGCCCCATCCTACCCTAATACTTTGCAACAAGCACAGTCATGCTGAGCCACCCCTGAGCTGTTGAAATCCCCACTCCCCTTTGCTCCCAGGGCCGCGCATTGAAGACGGCAACCTCATTGGCTGAGGGGCTCTCGCTTGTGGTGTCTCCCGAC... | ACCACTGGGGCAGTGCTAAGATTGGTGGGGGCTAGTGGGAACCAATGGGGCAGTAGGAAGAAGTCTCCCTGGGAAAGCAGGAATCTGGGTTCCAGTCCTTACTCTCCACTTGCTAGACCTCAGTTTTCCAACTGTACGGTGGGGAGATGGGTCTCAGCGCTCCCGGAGGCCCCATCCTACCCTAATACTTTGCAACAAGCACAGTCATGCTGAGCCACCCCTGAGCTGTTGAAATCCCCACTCCCCTTTGCTCCCAGGGCCGCGCATTGAAGACGGCAACCTCATTGGCTGAGGGGCTCTCGCTTGTGGTGTCTCCCGAC... | benign | 62,296 |
Is the genetic change at chromosome 3, position 14133762, within gene TMEM43 (transmembrane protein 43) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GAGTGAAGTGTAGGTGTCAGGATAACATGCAGATGTCTTTCATTTTGATACCTTTGAAACTCAAGTATAACATCTTCCTATCAGAAAAGTGTGAAATGATCCCCAAATTAATAGCCAGTGATTTGGAAGTGGCAAAAATCCAGTGAAGAGTGGCTCCAGGAGGAAAGGGGGATTGAGTTGCTCCCACATCTGGGAAGTTCCAGAGATGCACAAGCTTGAAGCATGACTTGGAGCAGGCCTGAAACACTGTCATTAGGATCAGCATGTCAACCCCGAGACCCCACTGCATCTCTCTGTGTTCAGCCTTCCCATCAGCTGTG... | GAGTGAAGTGTAGGTGTCAGGATAACATGCAGATGTCTTTCATTTTGATACCTTTGAAACTCAAGTATAACATCTTCCTATCAGAAAAGTGTGAAATGATCCCCAAATTAATAGCCAGTGATTTGGAAGTGGCAAAAATCCAGTGAAGAGTGGCTCCAGGAGGAAAGGGGGATTGAGTTGCTCCCACATCTGGGAAGTTCCAGAGATGCACAAGCTTGAAGCATGACTTGGAGCAGGCCTGAAACACTGTCATTAGGATCAGCATGTCAACCCCGAGACCCCACTGCATCTCTCTGTGTTCAGCCTTCCCATCAGCTGTG... | benign | 62,315 |
Determine if the mutation at chromosome 3, position 14147961 in gene XPC (XPC complex subunit, DNA damage recognition and repair factor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | GTGGGTGCCCCTCTAGTGGGCGCTCAGCTCACAGCTGCTCAAATGGGAACAGGTGGGAAGCTGCTGCTTTCTTTTCCCTTTTGGTCTTCTTGGGCCCACCCTTCAGCTTCTGCTTTTCTTCATCTTCTCGGTTTTGAGGCCAGGAGGCAGCCAGTATCCTGGCCGCTTCTGCTTGAGAGCTGGTCCCCTCCTCTTCATCAGAAGAGAGTCCACCTCCTGCATCTGTGTGGGGAGCTGCTGCCTCACTCTGGACAGGTGGCAGTGGTGGGAGGACACAGGCGAGGGTTAGTAATCAGATACCAGGAAGCCCCATGAAGAGG... | GTGGGTGCCCCTCTAGTGGGCGCTCAGCTCACAGCTGCTCAAATGGGAACAGGTGGGAAGCTGCTGCTTTCTTTTCCCTTTTGGTCTTCTTGGGCCCACCCTTCAGCTTCTGCTTTTCTTCATCTTCTCGGTTTTGAGGCCAGGAGGCAGCCAGTATCCTGGCCGCTTCTGCTTGAGAGCTGGTCCCCTCCTCTTCATCAGAAGAGAGTCCACCTCCTGCATCTGTGTGGGGAGCTGCTGCCTCACTCTGGACAGGTGGCAGTGGTGGGAGGACACAGGCGAGGGTTAGTAATCAGATACCAGGAAGCCCCATGAAGAGG... | pathogenic | 62,421 |
The chromosome 3, position 14148650 genetic variant in gene XPC (XPC complex subunit, DNA damage recognition and repair factor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | TGGAGAAGGCGGCAAGGAGCTGGTCAGAACATAAAGTCAGATGAAGGGCTTTTCTCCACCAGAGGGACTGGAATGAGGAGCGTGACAAAAAAATGTTGAAAGGCAAACAGGCAGCACAGAGGGTTGGAGAGAGGGAACAAAACATGCCAGAGCAGTTTCTGCTGTGTCTGACACAGCACTGACTATACCATGTAACTGGGCCTAGGGTCCATCTGCCCCAGGGAGGGGCCCCCTTGAGGGCTGCATGTCAAATTCACACCTGTGTCCAAGCCTGGCCTGGCACATGGCAGGTGCTGTGAGAGAGGTACTGAGCGGGCCAC... | TGGAGAAGGCGGCAAGGAGCTGGTCAGAACATAAAGTCAGATGAAGGGCTTTTCTCCACCAGAGGGACTGGAATGAGGAGCGTGACAAAAAAATGTTGAAAGGCAAACAGGCAGCACAGAGGGTTGGAGAGAGGGAACAAAACATGCCAGAGCAGTTTCTGCTGTGTCTGACACAGCACTGACTATACCATGTAACTGGGCCTAGGGTCCATCTGCCCCAGGGAGGGGCCCCCTTGAGGGCTGCATGTCAAATTCACACCTGTGTCCAAGCCTGGCCTGGCACATGGCAGGTGCTGTGAGAGAGGTACTGAGCGGGCCAC... | pathogenic | 62,427 |
Benign or pathogenic: chromosome 3, position 14148694, gene XPC (XPC complex subunit, DNA damage recognition and repair factor) variant? Disease(s) if pathogenic? | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | AGGGCTTTTCTCCACCAGAGGGACTGGAATGAGGAGCGTGACAAAAAAATGTTGAAAGGCAAACAGGCAGCACAGAGGGTTGGAGAGAGGGAACAAAACATGCCAGAGCAGTTTCTGCTGTGTCTGACACAGCACTGACTATACCATGTAACTGGGCCTAGGGTCCATCTGCCCCAGGGAGGGGCCCCCTTGAGGGCTGCATGTCAAATTCACACCTGTGTCCAAGCCTGGCCTGGCACATGGCAGGTGCTGTGAGAGAGGTACTGAGCGGGCCACTGCAGGCCTGCAGCATGGTCACAGGCACTGGGAACACTGGAAGG... | AGGGCTTTTCTCCACCAGAGGGACTGGAATGAGGAGCGTGACAAAAAAATGTTGAAAGGCAAACAGGCAGCACAGAGGGTTGGAGAGAGGGAACAAAACATGCCAGAGCAGTTTCTGCTGTGTCTGACACAGCACTGACTATACCATGTAACTGGGCCTAGGGTCCATCTGCCCCAGGGAGGGGCCCCCTTGAGGGCTGCATGTCAAATTCACACCTGTGTCCAAGCCTGGCCTGGCACATGGCAGGTGCTGTGAGAGAGGTACTGAGCGGGCCACTGCAGGCCTGCAGCATGGTCACAGGCACTGGGAACACTGGAAGG... | pathogenic | 62,430 |
Variant in XPC (XPC complex subunit, DNA damage recognition and repair factor), chromosome 3, position 14148846—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | TGGGCCTAGGGTCCATCTGCCCCAGGGAGGGGCCCCCTTGAGGGCTGCATGTCAAATTCACACCTGTGTCCAAGCCTGGCCTGGCACATGGCAGGTGCTGTGAGAGAGGTACTGAGCGGGCCACTGCAGGCCTGCAGCATGGTCACAGGCACTGGGAACACTGGAAGGCGGAAGGGTGCACCAAATGCAGGACACTTGGCCCTCCCTATGTGTTCAGCGCCAAATCAGACCCATGGCATTGCTCATGTGGACAGTAGAAACGGGGACACTGGGACAGGGCTTGGGGCAGAAGAGCCAGCTGAGGCCTCACTCCAGGGACA... | TGGGCCTAGGGTCCATCTGCCCCAGGGAGGGGCCCCCTTGAGGGCTGCATGTCAAATTCACACCTGTGTCCAAGCCTGGCCTGGCACATGGCAGGTGCTGTGAGAGAGGTACTGAGCGGGCCACTGCAGGCCTGCAGCATGGTCACAGGCACTGGGAACACTGGAAGGCGGAAGGGTGCACCAAATGCAGGACACTTGGCCCTCCCTATGTGTTCAGCGCCAAATCAGACCCATGGCATTGCTCATGTGGACAGTAGAAACGGGGACACTGGGACAGGGCTTGGGGCAGAAGAGCCAGCTGAGGCCTCACTCCAGGGACA... | pathogenic | 62,438 |
Evaluate the clinical significance of the mutation at chromosome 3, position 14148869 in gene XPC (XPC complex subunit, DNA damage recognition and repair factor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | AGGGAGGGGCCCCCTTGAGGGCTGCATGTCAAATTCACACCTGTGTCCAAGCCTGGCCTGGCACATGGCAGGTGCTGTGAGAGAGGTACTGAGCGGGCCACTGCAGGCCTGCAGCATGGTCACAGGCACTGGGAACACTGGAAGGCGGAAGGGTGCACCAAATGCAGGACACTTGGCCCTCCCTATGTGTTCAGCGCCAAATCAGACCCATGGCATTGCTCATGTGGACAGTAGAAACGGGGACACTGGGACAGGGCTTGGGGCAGAAGAGCCAGCTGAGGCCTCACTCCAGGGACACCTTTCCCAACAAGGTAAAAACA... | AGGGAGGGGCCCCCTTGAGGGCTGCATGTCAAATTCACACCTGTGTCCAAGCCTGGCCTGGCACATGGCAGGTGCTGTGAGAGAGGTACTGAGCGGGCCACTGCAGGCCTGCAGCATGGTCACAGGCACTGGGAACACTGGAAGGCGGAAGGGTGCACCAAATGCAGGACACTTGGCCCTCCCTATGTGTTCAGCGCCAAATCAGACCCATGGCATTGCTCATGTGGACAGTAGAAACGGGGACACTGGGACAGGGCTTGGGGCAGAAGAGCCAGCTGAGGCCTCACTCCAGGGACACCTTTCCCAACAAGGTAAAAACA... | pathogenic | 62,439 |
Is the genetic variant on chromosome 3, position 14148871, gene XPC (XPC complex subunit, DNA damage recognition and repair factor), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | GGAGGGGCCCCCTTGAGGGCTGCATGTCAAATTCACACCTGTGTCCAAGCCTGGCCTGGCACATGGCAGGTGCTGTGAGAGAGGTACTGAGCGGGCCACTGCAGGCCTGCAGCATGGTCACAGGCACTGGGAACACTGGAAGGCGGAAGGGTGCACCAAATGCAGGACACTTGGCCCTCCCTATGTGTTCAGCGCCAAATCAGACCCATGGCATTGCTCATGTGGACAGTAGAAACGGGGACACTGGGACAGGGCTTGGGGCAGAAGAGCCAGCTGAGGCCTCACTCCAGGGACACCTTTCCCAACAAGGTAAAAACAAG... | GGAGGGGCCCCCTTGAGGGCTGCATGTCAAATTCACACCTGTGTCCAAGCCTGGCCTGGCACATGGCAGGTGCTGTGAGAGAGGTACTGAGCGGGCCACTGCAGGCCTGCAGCATGGTCACAGGCACTGGGAACACTGGAAGGCGGAAGGGTGCACCAAATGCAGGACACTTGGCCCTCCCTATGTGTTCAGCGCCAAATCAGACCCATGGCATTGCTCATGTGGACAGTAGAAACGGGGACACTGGGACAGGGCTTGGGGCAGAAGAGCCAGCTGAGGCCTCACTCCAGGGACACCTTTCCCAACAAGGTAAAAACAAG... | pathogenic | 62,440 |
The chromosome 3, position 14148934 genetic variant in gene XPC (XPC complex subunit, DNA damage recognition and repair factor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | TGGCAGGTGCTGTGAGAGAGGTACTGAGCGGGCCACTGCAGGCCTGCAGCATGGTCACAGGCACTGGGAACACTGGAAGGCGGAAGGGTGCACCAAATGCAGGACACTTGGCCCTCCCTATGTGTTCAGCGCCAAATCAGACCCATGGCATTGCTCATGTGGACAGTAGAAACGGGGACACTGGGACAGGGCTTGGGGCAGAAGAGCCAGCTGAGGCCTCACTCCAGGGACACCTTTCCCAACAAGGTAAAAACAAGCGGCCTTAGAGACAGAAGACTGAGGTGTCCTAACACAAAGCTATCCCTGACTTGAGGCTGGGG... | TGGCAGGTGCTGTGAGAGAGGTACTGAGCGGGCCACTGCAGGCCTGCAGCATGGTCACAGGCACTGGGAACACTGGAAGGCGGAAGGGTGCACCAAATGCAGGACACTTGGCCCTCCCTATGTGTTCAGCGCCAAATCAGACCCATGGCATTGCTCATGTGGACAGTAGAAACGGGGACACTGGGACAGGGCTTGGGGCAGAAGAGCCAGCTGAGGCCTCACTCCAGGGACACCTTTCCCAACAAGGTAAAAACAAGCGGCCTTAGAGACAGAAGACTGAGGTGTCCTAACACAAAGCTATCCCTGACTTGAGGCTGGGG... | pathogenic | 62,442 |
Does the chromosome 3 mutation at position 14152316 within gene XPC (XPC complex subunit, DNA damage recognition and repair factor) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CTCAGCATACAGACTTCCTCTAGTGCAGGGGCCCACAAGCTTGTTCTGTAAAGGGTCATGCGTGGCCTCCATCACATATTCTTTATTCTTCTCATTCTTATAACCCTTTAAAAATGTGAAAAGCCATTCCCCAGGTTGGGGGTGGCCTGCGAGCTCTCATGTCCATTCCTGCCATGATCTCTGGGCGCACCCTCTCTGTCACCACTTCAGGGACAGAGGGACTCTGAGTTCTGACAACCGTCCCTTTCTGAGAAGCCATTCACCCAGCACACTGTTCAGTAAACTTCCACTGGGATCTCCTGGAGACCAGGCCATGACCC... | CTCAGCATACAGACTTCCTCTAGTGCAGGGGCCCACAAGCTTGTTCTGTAAAGGGTCATGCGTGGCCTCCATCACATATTCTTTATTCTTCTCATTCTTATAACCCTTTAAAAATGTGAAAAGCCATTCCCCAGGTTGGGGGTGGCCTGCGAGCTCTCATGTCCATTCCTGCCATGATCTCTGGGCGCACCCTCTCTGTCACCACTTCAGGGACAGAGGGACTCTGAGTTCTGACAACCGTCCCTTTCTGAGAAGCCATTCACCCAGCACACTGTTCAGTAAACTTCCACTGGGATCTCCTGGAGACCAGGCCATGACCC... | benign | 62,444 |
Chromosome 3, position 14152398, gene XPC (XPC complex subunit, DNA damage recognition and repair factor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | TTATTCTTCTCATTCTTATAACCCTTTAAAAATGTGAAAAGCCATTCCCCAGGTTGGGGGTGGCCTGCGAGCTCTCATGTCCATTCCTGCCATGATCTCTGGGCGCACCCTCTCTGTCACCACTTCAGGGACAGAGGGACTCTGAGTTCTGACAACCGTCCCTTTCTGAGAAGCCATTCACCCAGCACACTGTTCAGTAAACTTCCACTGGGATCTCCTGGAGACCAGGCCATGACCCAGTCATGAAGGAGGGATGGAGCGAGGACAGTCTTTGCTCTTAGGAGCTCAGGCTCCTGCAGGGGAAGAGACAGAGCTACGAC... | TTATTCTTCTCATTCTTATAACCCTTTAAAAATGTGAAAAGCCATTCCCCAGGTTGGGGGTGGCCTGCGAGCTCTCATGTCCATTCCTGCCATGATCTCTGGGCGCACCCTCTCTGTCACCACTTCAGGGACAGAGGGACTCTGAGTTCTGACAACCGTCCCTTTCTGAGAAGCCATTCACCCAGCACACTGTTCAGTAAACTTCCACTGGGATCTCCTGGAGACCAGGCCATGACCCAGTCATGAAGGAGGGATGGAGCGAGGACAGTCTTTGCTCTTAGGAGCTCAGGCTCCTGCAGGGGAAGAGACAGAGCTACGAC... | pathogenic | 62,450 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 14152401, gene XPC (XPC complex subunit, DNA damage recognition and repair factor). What disease(s) is it linked to if pathogenic? | pathogenic; ['Xeroderma_pigmentosum,_group_C'] | TTCTTCTCATTCTTATAACCCTTTAAAAATGTGAAAAGCCATTCCCCAGGTTGGGGGTGGCCTGCGAGCTCTCATGTCCATTCCTGCCATGATCTCTGGGCGCACCCTCTCTGTCACCACTTCAGGGACAGAGGGACTCTGAGTTCTGACAACCGTCCCTTTCTGAGAAGCCATTCACCCAGCACACTGTTCAGTAAACTTCCACTGGGATCTCCTGGAGACCAGGCCATGACCCAGTCATGAAGGAGGGATGGAGCGAGGACAGTCTTTGCTCTTAGGAGCTCAGGCTCCTGCAGGGGAAGAGACAGAGCTACGACTCA... | TTCTTCTCATTCTTATAACCCTTTAAAAATGTGAAAAGCCATTCCCCAGGTTGGGGGTGGCCTGCGAGCTCTCATGTCCATTCCTGCCATGATCTCTGGGCGCACCCTCTCTGTCACCACTTCAGGGACAGAGGGACTCTGAGTTCTGACAACCGTCCCTTTCTGAGAAGCCATTCACCCAGCACACTGTTCAGTAAACTTCCACTGGGATCTCCTGGAGACCAGGCCATGACCCAGTCATGAAGGAGGGATGGAGCGAGGACAGTCTTTGCTCTTAGGAGCTCAGGCTCCTGCAGGGGAAGAGACAGAGCTACGACTCA... | pathogenic | 62,451 |
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