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 |
|---|---|---|---|---|---|
Determine whether the variant at chromosome 16, position 14584492, in gene PARN (poly(A)-specific ribonuclease) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AAATACAAGATAACAGAGTCACTGAAAAGGAGGGCTTTGGTCTAGGATACAGAAATGCCTCAGTTAGATTACAAAGGACTCAGCCGTGGGCTTTCTCGTCCCACACTGGTGGGTGCTATTTATGATCATCCATAACTCACTCTAGGACAATGATTCCTCTTCTGCTTGCTTTCTAAGGCCATGAAAAGGATATTCTTCCCTTATACAAGATGGTCACATCAGGCCACAATAGATGATCCAGAGTAAAGATTAAGAGCATGGGCTCTGGAGTCACACTGAGTTCGAATCTCTGCTCCACCACTTATTTGCGGTATGACCTT... | AAATACAAGATAACAGAGTCACTGAAAAGGAGGGCTTTGGTCTAGGATACAGAAATGCCTCAGTTAGATTACAAAGGACTCAGCCGTGGGCTTTCTCGTCCCACACTGGTGGGTGCTATTTATGATCATCCATAACTCACTCTAGGACAATGATTCCTCTTCTGCTTGCTTTCTAAGGCCATGAAAAGGATATTCTTCCCTTATACAAGATGGTCACATCAGGCCACAATAGATGATCCAGAGTAAAGATTAAGAGCATGGGCTCTGGAGTCACACTGAGTTCGAATCTCTGCTCCACCACTTATTTGCGGTATGACCTT... | benign | 247,242 |
Mutation at chromosome 16, position 14586330, within PARN (poly(A)-specific ribonuclease): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_6', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_4'] | CTTCTACAATATACATCAATAATTATTACAAAGAGTTTGGAGGGTTTCCGGTTTAATATTCTTACCAACTTTAGGAGGGTTGAAAGGTGTCTCTTTTAACCGCTTTTCCAATTCCGCAAGGGATGTGTTGTTAATGATATCCTGCAAACCACGAAGCAAAGAATTATGAGATTTCATCATCTCAGAACAATATATTAAAGAGATTCACTGACCCCCCCAAAAAAAAGACAGCATCTAGTACTGTCTCCTTGTGTTCTTTAAAGAAACACAGAAGTCTTCGTTTTTTTCAATGTGAAAGAGAAGCAGCTAGTTTAATTTTT... | CTTCTACAATATACATCAATAATTATTACAAAGAGTTTGGAGGGTTTCCGGTTTAATATTCTTACCAACTTTAGGAGGGTTGAAAGGTGTCTCTTTTAACCGCTTTTCCAATTCCGCAAGGGATGTGTTGTTAATGATATCCTGCAAACCACGAAGCAAAGAATTATGAGATTTCATCATCTCAGAACAATATATTAAAGAGATTCACTGACCCCCCCAAAAAAAAGACAGCATCTAGTACTGTCTCCTTGTGTTCTTTAAAGAAACACAGAAGTCTTCGTTTTTTTCAATGTGAAAGAGAAGCAGCTAGTTTAATTTTT... | pathogenic | 247,244 |
Variant at chromosome position 14599897, chromosome 16, gene PARN (poly(A)-specific ribonuclease): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | ATCCAAGTTATACAGCCGGGCATGGTGGCTCACACCTGTAAACCCAGTATCTTGGGAGGCTGAAGAAGGCAGATTACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCAACTAAAAATACAGAAATTAGCCAGGCGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTTGCTTGAACCCGAGAGGCGGAGGTTGTGGTGAGCCAGGATTGCGCCACTGCACTCCAGCAGGACAACAGAGCGAGACTCCGGCTCAAAAAATATATATATATATATATTTA... | ATCCAAGTTATACAGCCGGGCATGGTGGCTCACACCTGTAAACCCAGTATCTTGGGAGGCTGAAGAAGGCAGATTACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAAGCCCGTCTCAACTAAAAATACAGAAATTAGCCAGGCGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTTGCTTGAACCCGAGAGGCGGAGGTTGTGGTGAGCCAGGATTGCGCCACTGCACTCCAGCAGGACAACAGAGCGAGACTCCGGCTCAAAAAATATATATATATATATATTTA... | benign | 247,246 |
Assess the variant on chromosome 16, position 14604169, impacting PARN (poly(A)-specific ribonuclease): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_6', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_4'] | TAGGGAAAAATTGCTTTAATTATAGTTTAAAAAACTACTGCCAGGGCTGAATCCAACAGCCATGTCTCAATACTAACCCCTACATGGGAGCTGACATTGCTGACTGCCCCTTTTTCTCTCCTCCCTTGGCTGTGTACCACAATAATCTCCCGGTACATTTTGTCGACTTCTGCCTATCATTTAAATGCTGTTGATCCTCAGGATTCAGCCCCAGGTCCTCTTCTCATTCCTCACGTACTCTGCAGTTGCTCTGATCCAGTCCCAGTCTCTCTGCCAATGACAATCATGCCTAGCCCTCACCCCTCTCCTGTGCTCAACAC... | TAGGGAAAAATTGCTTTAATTATAGTTTAAAAAACTACTGCCAGGGCTGAATCCAACAGCCATGTCTCAATACTAACCCCTACATGGGAGCTGACATTGCTGACTGCCCCTTTTTCTCTCCTCCCTTGGCTGTGTACCACAATAATCTCCCGGTACATTTTGTCGACTTCTGCCTATCATTTAAATGCTGTTGATCCTCAGGATTCAGCCCCAGGTCCTCTTCTCATTCCTCACGTACTCTGCAGTTGCTCTGATCCAGTCCCAGTCTCTCTGCCAATGACAATCATGCCTAGCCCTCACCCCTCTCCTGTGCTCAACAC... | pathogenic | 247,250 |
Variant in gene NDE1 (nudE neurodevelopment protein 1), located at chromosome 16 position 15691299: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Lissencephaly_4', 'NDE1-related_microhydranencephaly'] | AGACGGACGCAAGAGGATTGCTTGAGCCTAGGAGTTCAAGATGAGCCTGGACAACATAGTGATACCCCATCTCTACAAAAATGAAAATTGTAAAAATTAGGCCTGGTGGCATATGTCTGTAGTTCCAGCTACTTAGGAGGCTGAAGTGGGAGGATGACTTGAGCCCAGGAGTTCAAGGTTACATTGAGCTATGATTGTGCCACCGCACCCCAGCCTGGGTGACTGAGTCAGACCCTGTCTCTAAAACAAAAATCATTGCCAAGACATACCACTGAAGTGGGGAGAGTAAGTCATACACAGGACAACATATTGTATGTTTC... | AGACGGACGCAAGAGGATTGCTTGAGCCTAGGAGTTCAAGATGAGCCTGGACAACATAGTGATACCCCATCTCTACAAAAATGAAAATTGTAAAAATTAGGCCTGGTGGCATATGTCTGTAGTTCCAGCTACTTAGGAGGCTGAAGTGGGAGGATGACTTGAGCCCAGGAGTTCAAGGTTACATTGAGCTATGATTGTGCCACCGCACCCCAGCCTGGGTGACTGAGTCAGACCCTGTCTCTAAAACAAAAATCATTGCCAAGACATACCACTGAAGTGGGGAGAGTAAGTCATACACAGGACAACATATTGTATGTTTC... | pathogenic | 247,284 |
Considering the genetic mutation at chromosome 16, position 15703925, impacting MYH11: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TATTTTTTTAAAAGATCAATAAAATCAAGAGAAACGAATGTTGAACTTGTTGGGCTTCTGGTCAAAGAGGCTTTGTATGTTTATACTTTAATGTTTTCCCACAGAGTGGTGAAAAACTTTTTTTAACCAAGTTAAAAAATATGAAAAAATCTTTTTGAAAATTTCTATTCAAGCCAGGTTTTTAGAAATGTATCCGGGATGTGTTTGTGCGTCATTCAAGGCATATTAGCATCTGGTCACAAGATGGAGTCCTTTGTTTCCATGTTTCCTGTCTCCCAAATCTGTCTGATCCCATGGAGTTGGTGGTATACGGCATCGTT... | TATTTTTTTAAAAGATCAATAAAATCAAGAGAAACGAATGTTGAACTTGTTGGGCTTCTGGTCAAAGAGGCTTTGTATGTTTATACTTTAATGTTTTCCCACAGAGTGGTGAAAAACTTTTTTTAACCAAGTTAAAAAATATGAAAAAATCTTTTTGAAAATTTCTATTCAAGCCAGGTTTTTAGAAATGTATCCGGGATGTGTTTGTGCGTCATTCAAGGCATATTAGCATCTGGTCACAAGATGGAGTCCTTTGTTTCCATGTTTCCTGTCTCCCAAATCTGTCTGATCCCATGGAGTTGGTGGTATACGGCATCGTT... | benign | 247,291 |
Located at chromosome 16 position 15708846, the variant affecting gene MYH11—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GTCTATTTGCTAACTGGAAAAGCTTAATGGATAAATTTGCTCCCTTGACCTAAGAAATACATTGTGCCCTGGGCCGTTGAAGCTCCTTGCTTGGCTGTCAGCCTGCAAGATACTCTGTTTTGGCTGAAGTGCTTTTCTTGGAACTGGTTTCAAATCCTAGACCAAGGTTGACACCAACTATACCTGTTACAGGAACTAAGGGACCCCCCTAAAGGTTTTCTTAAAGGGTCTGATCCTGGAGAATCTGGAATTTTTTTTTGAAATAGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGC... | GTCTATTTGCTAACTGGAAAAGCTTAATGGATAAATTTGCTCCCTTGACCTAAGAAATACATTGTGCCCTGGGCCGTTGAAGCTCCTTGCTTGGCTGTCAGCCTGCAAGATACTCTGTTTTGGCTGAAGTGCTTTTCTTGGAACTGGTTTCAAATCCTAGACCAAGGTTGACACCAACTATACCTGTTACAGGAACTAAGGGACCCCCCTAAAGGTTTTCTTAAAGGGTCTGATCCTGGAGAATCTGGAATTTTTTTTTGAAATAGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGC... | benign | 247,302 |
Regarding the variant found on chromosome 16 at position 15708848 in gene MYH11: is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CTATTTGCTAACTGGAAAAGCTTAATGGATAAATTTGCTCCCTTGACCTAAGAAATACATTGTGCCCTGGGCCGTTGAAGCTCCTTGCTTGGCTGTCAGCCTGCAAGATACTCTGTTTTGGCTGAAGTGCTTTTCTTGGAACTGGTTTCAAATCCTAGACCAAGGTTGACACCAACTATACCTGTTACAGGAACTAAGGGACCCCCCTAAAGGTTTTCTTAAAGGGTCTGATCCTGGAGAATCTGGAATTTTTTTTTGAAATAGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAG... | CTATTTGCTAACTGGAAAAGCTTAATGGATAAATTTGCTCCCTTGACCTAAGAAATACATTGTGCCCTGGGCCGTTGAAGCTCCTTGCTTGGCTGTCAGCCTGCAAGATACTCTGTTTTGGCTGAAGTGCTTTTCTTGGAACTGGTTTCAAATCCTAGACCAAGGTTGACACCAACTATACCTGTTACAGGAACTAAGGGACCCCCCTAAAGGTTTTCTTAAAGGGTCTGATCCTGGAGAATCTGGAATTTTTTTTTGAAATAGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAG... | benign | 247,303 |
Considering the variant on chromosome 16, location 15719727, involving gene MYH11, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CCAGCTACTTGGGAGGTTGAAGCAGGAGAATCCCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCCACAGAGAGACCCTGTCTCCAAAAAAAAGAGGTGCTTCCACAAGTGTCAGTGCCACCCAGGCTGAGCGAGTGACTTGTCCCTTGCTTTCTCTGTCCTGGAGTCGCCTGGAGAATGATGCCTGTTCACCCTACACCACAAGGGGCTGCAGGTTACTGGATGGTCCCTAGTGCCCACCATGGAACTAGTGCTCAGTGACATCACCAAGGGCTCACTGGATAAGGTC... | CCAGCTACTTGGGAGGTTGAAGCAGGAGAATCCCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCCACAGAGAGACCCTGTCTCCAAAAAAAAGAGGTGCTTCCACAAGTGTCAGTGCCACCCAGGCTGAGCGAGTGACTTGTCCCTTGCTTTCTCTGTCCTGGAGTCGCCTGGAGAATGATGCCTGTTCACCCTACACCACAAGGGGCTGCAGGTTACTGGATGGTCCCTAGTGCCCACCATGGAACTAGTGCTCAGTGACATCACCAAGGGCTCACTGGATAAGGTC... | benign | 247,422 |
Assess the variant on chromosome 16, position 15727063, impacting MYH11 (myosin heavy chain 11): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TAGTCAAAGCCTCTAGAAGGGGATCCTCGTTGAAAGGAGCCCTTTTTACTCAAAACACATGGGCTAGTACTTGAGGTGTTCACTGATTGAGAAAATACCCGTGAGGTATGGGACTCTGATAAAAAAAAAAAAAAACACACACACACACAAAAAAAACAGAATCTGTGGCTTGAAGGGAACTCCGTCACCTATGAGTTGGGACCCTGGCCCTAGACTCTGTGGTTCTAAGAACTTATTTGAGCCCCAATGGTATTGACTGGGACCTGATCCCACTAAATGGATCCTAGATCCCTGCCAAGGTTGGTAGAGACAAAGCAGCA... | TAGTCAAAGCCTCTAGAAGGGGATCCTCGTTGAAAGGAGCCCTTTTTACTCAAAACACATGGGCTAGTACTTGAGGTGTTCACTGATTGAGAAAATACCCGTGAGGTATGGGACTCTGATAAAAAAAAAAAAAAACACACACACACACAAAAAAAACAGAATCTGTGGCTTGAAGGGAACTCCGTCACCTATGAGTTGGGACCCTGGCCCTAGACTCTGTGGTTCTAAGAACTTATTTGAGCCCCAATGGTATTGACTGGGACCTGATCCCACTAAATGGATCCTAGATCCCTGCCAAGGTTGGTAGAGACAAAGCAGCA... | benign | 247,584 |
Is the genetic variant on chromosome 16, position 15732531, gene MYH11 (myosin heavy chain 11), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AGTGAGCCAAGATCACGCCACTGAACTCCAGCCTGAGTGACAGAGTAAGACTCCACTGCTCAAAAAATAAACAAATAATCCAATCTTGGGTATTTCTGTAGAGCAGTGCAACAACGGACCAATACACTAGTGATAGAACCAAATGCAAATTCCCCAAAATTTTTAGGCAATGCTGCACCCACTTAATCTAGCAGAACCAAAAGCTTCCACTGAAGGGGATGTGGAGGAGCTGCAACGCTGAGGGTAATGTAACTCAGGCTTTCAGGAAAACAATCTGGCCGAAGGTCGCAAGCTAAAAAACTTACCCTGGGGAATGAAGC... | AGTGAGCCAAGATCACGCCACTGAACTCCAGCCTGAGTGACAGAGTAAGACTCCACTGCTCAAAAAATAAACAAATAATCCAATCTTGGGTATTTCTGTAGAGCAGTGCAACAACGGACCAATACACTAGTGATAGAACCAAATGCAAATTCCCCAAAATTTTTAGGCAATGCTGCACCCACTTAATCTAGCAGAACCAAAAGCTTCCACTGAAGGGGATGTGGAGGAGCTGCAACGCTGAGGGTAATGTAACTCAGGCTTTCAGGAAAACAATCTGGCCGAAGGTCGCAAGCTAAAAAACTTACCCTGGGGAATGAAGC... | benign | 247,590 |
Determine whether the variant at chromosome 16, position 15732552, in gene MYH11 (myosin heavy chain 11) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TGAACTCCAGCCTGAGTGACAGAGTAAGACTCCACTGCTCAAAAAATAAACAAATAATCCAATCTTGGGTATTTCTGTAGAGCAGTGCAACAACGGACCAATACACTAGTGATAGAACCAAATGCAAATTCCCCAAAATTTTTAGGCAATGCTGCACCCACTTAATCTAGCAGAACCAAAAGCTTCCACTGAAGGGGATGTGGAGGAGCTGCAACGCTGAGGGTAATGTAACTCAGGCTTTCAGGAAAACAATCTGGCCGAAGGTCGCAAGCTAAAAAACTTACCCTGGGGAATGAAGCACAGGCACTACCCCAAAGGAG... | TGAACTCCAGCCTGAGTGACAGAGTAAGACTCCACTGCTCAAAAAATAAACAAATAATCCAATCTTGGGTATTTCTGTAGAGCAGTGCAACAACGGACCAATACACTAGTGATAGAACCAAATGCAAATTCCCCAAAATTTTTAGGCAATGCTGCACCCACTTAATCTAGCAGAACCAAAAGCTTCCACTGAAGGGGATGTGGAGGAGCTGCAACGCTGAGGGTAATGTAACTCAGGCTTTCAGGAAAACAATCTGGCCGAAGGTCGCAAGCTAAAAAACTTACCCTGGGGAATGAAGCACAGGCACTACCCCAAAGGAG... | benign | 247,591 |
Mutation at chromosome 16, position 15732558, within MYH11 (myosin heavy chain 11): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CCAGCCTGAGTGACAGAGTAAGACTCCACTGCTCAAAAAATAAACAAATAATCCAATCTTGGGTATTTCTGTAGAGCAGTGCAACAACGGACCAATACACTAGTGATAGAACCAAATGCAAATTCCCCAAAATTTTTAGGCAATGCTGCACCCACTTAATCTAGCAGAACCAAAAGCTTCCACTGAAGGGGATGTGGAGGAGCTGCAACGCTGAGGGTAATGTAACTCAGGCTTTCAGGAAAACAATCTGGCCGAAGGTCGCAAGCTAAAAAACTTACCCTGGGGAATGAAGCACAGGCACTACCCCAAAGGAGAGAAGA... | CCAGCCTGAGTGACAGAGTAAGACTCCACTGCTCAAAAAATAAACAAATAATCCAATCTTGGGTATTTCTGTAGAGCAGTGCAACAACGGACCAATACACTAGTGATAGAACCAAATGCAAATTCCCCAAAATTTTTAGGCAATGCTGCACCCACTTAATCTAGCAGAACCAAAAGCTTCCACTGAAGGGGATGTGGAGGAGCTGCAACGCTGAGGGTAATGTAACTCAGGCTTTCAGGAAAACAATCTGGCCGAAGGTCGCAAGCTAAAAAACTTACCCTGGGGAATGAAGCACAGGCACTACCCCAAAGGAGAGAAGA... | benign | 247,592 |
A mutation at chromosome position 15735587 on chromosome 16 in gene MYH11 (myosin heavy chain 11): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TTTGTTTTGTTTGTTTGTTTTTCTTATCGAGTCTTGCTCCGTCGTCCAGACTGGAGTACAGTGGAATGATGTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACCGACGCCCACCACCACGCCCGGCTAATTTTTGTCTTTTTAGTAGAGACAGGTTTTCATGATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGTCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATACCTGGCCCATGCACTGGGCTCTT... | TTTGTTTTGTTTGTTTGTTTTTCTTATCGAGTCTTGCTCCGTCGTCCAGACTGGAGTACAGTGGAATGATGTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACCGACGCCCACCACCACGCCCGGCTAATTTTTGTCTTTTTAGTAGAGACAGGTTTTCATGATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGTCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATACCTGGCCCATGCACTGGGCTCTT... | benign | 247,622 |
The mutation impacting MYH11 (myosin heavy chain 11) on chromosome 16 at position 15738702: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CAAATTGGCCGACAAAAGAGCCAGGCCAGGGGATCAATCAGAAAGCTTTGAGGCTTAAATCCCAGCTCTGCCTCTTAGAAGCAATGACATTGCTCCTGTTGCGTTACCCCTAGGAGGCTCAGCTTCCTCCTCAAAGACACCGGCAGTACACCTGGCCAGGTGTCTGCAAAGGTATTGCTTGAAAAGAACTTAGCACCGAGTGAGCAGGTAAATAATCATTCATAGTGGCTGCTGCAGTATTAGCATTAGTGTAAATCCAGCTAAGAGCCAGGAAGAGGGAAAAACCAGAGGAAATGGGTGGGGGACATTTAGAAGGACTG... | CAAATTGGCCGACAAAAGAGCCAGGCCAGGGGATCAATCAGAAAGCTTTGAGGCTTAAATCCCAGCTCTGCCTCTTAGAAGCAATGACATTGCTCCTGTTGCGTTACCCCTAGGAGGCTCAGCTTCCTCCTCAAAGACACCGGCAGTACACCTGGCCAGGTGTCTGCAAAGGTATTGCTTGAAAAGAACTTAGCACCGAGTGAGCAGGTAAATAATCATTCATAGTGGCTGCTGCAGTATTAGCATTAGTGTAAATCCAGCTAAGAGCCAGGAAGAGGGAAAAACCAGAGGAAATGGGTGGGGGACATTTAGAAGGACTG... | benign | 247,662 |
Assess the variant on chromosome 16, position 15741894, impacting MYH11 (myosin heavy chain 11): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | ATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTACAGACACTGGCCACCACACCTGGCTAATCTTTGTATTTTTAGTAGAGATGGAGTTTTACCCTGTTGGCCAGGCTAGTCTCAAACTCCTGGCCTCAAGTGATCCACATACCTTGGCCTCCCAAAGTGCTCGGATTATAGGCGTGAGCCACTGCACCCGGCCCCTACTCACTTTTGATAGTTTATTGTTCTGATCATCCATGACCAGGATCTCATCCTCCAGTTTCTTGATCTTGGCCTCAGCCGTGACCTTCTCAAGTTGCAGCTTCTGCCTGGCAGCTTCCTCC... | ATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTACAGACACTGGCCACCACACCTGGCTAATCTTTGTATTTTTAGTAGAGATGGAGTTTTACCCTGTTGGCCAGGCTAGTCTCAAACTCCTGGCCTCAAGTGATCCACATACCTTGGCCTCCCAAAGTGCTCGGATTATAGGCGTGAGCCACTGCACCCGGCCCCTACTCACTTTTGATAGTTTATTGTTCTGATCATCCATGACCAGGATCTCATCCTCCAGTTTCTTGATCTTGGCCTCAGCCGTGACCTTCTCAAGTTGCAGCTTCTGCCTGGCAGCTTCCTCC... | benign | 247,705 |
Determine whether the variant at chromosome 16, position 15757818, in gene MYH11 (myosin heavy chain 11) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGAGGGAGAGGTTGCAGTTAGCAGAGATCACGCCATTGCACTCCAGCCTGGATGACAAGAGCAAAATTCCATCTCAAAAAGGAAAAAAGATTTTAGCTGGGCATGGTGGTGTACACCTGTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAGGATCGTGTGAGCCCAGGAGGTTGAGGCTGTAGTGAGCTATGATCGCACCACTGCACTCCAGCCTGGGCGACAAAGCGAGAC... | AAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGAGGGAGAGGTTGCAGTTAGCAGAGATCACGCCATTGCACTCCAGCCTGGATGACAAGAGCAAAATTCCATCTCAAAAAGGAAAAAAGATTTTAGCTGGGCATGGTGGTGTACACCTGTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAGGATCGTGTGAGCCCAGGAGGTTGAGGCTGTAGTGAGCTATGATCGCACCACTGCACTCCAGCCTGGGCGACAAAGCGAGAC... | benign | 247,813 |
Benign or pathogenic: chromosome 16, position 15798698, gene MYH11 (myosin heavy chain 11) variant? Disease(s) if pathogenic? | benign | CTGTGAATATGTTTGCTTGAGATGAGGAGACTGTCTTGGATCATCTAGGTGGGGCTAATATAACCACAAAGGTACTGGGCCTTATAAGAGAGAGGTAGGGGGACCAGAGAAAGAGATTTGAAGATACCATGCTGCAGGATTTAAAGATGGAGGAAGAGACCATGAGCCAAGGAATGCAGGTGACCCCTAGAAGCCAGAAAACTAGGAAACCAAGTCGGCAGGTTGTTTTAGCATTTATATCCTCATAGCTAGGTAGCATTATATCTCTAGATCCAGACTATTCATTGTCAAACATCAAATGTGTACATCCTACCATGGAA... | CTGTGAATATGTTTGCTTGAGATGAGGAGACTGTCTTGGATCATCTAGGTGGGGCTAATATAACCACAAAGGTACTGGGCCTTATAAGAGAGAGGTAGGGGGACCAGAGAAAGAGATTTGAAGATACCATGCTGCAGGATTTAAAGATGGAGGAAGAGACCATGAGCCAAGGAATGCAGGTGACCCCTAGAAGCCAGAAAACTAGGAAACCAAGTCGGCAGGTTGTTTTAGCATTTATATCCTCATAGCTAGGTAGCATTATATCTCTAGATCCAGACTATTCATTGTCAAACATCAAATGTGTACATCCTACCATGGAA... | benign | 247,921 |
Benign or pathogenic: chromosome 16, position 15857037, gene MYH11 (myosin heavy chain 11) variant? Disease(s) if pathogenic? | benign | TGCGGTGCAAGGCTGGGTAACTGACGAGGGGGCCGGGGATGGCCTCATGGAAAACGCTTCCATAAATGGGCATGTTTGCCTCAATCTCTGCCCTCCCACGGAAAAGTAATGATAACAAATCCATAACAGATACCTTGTACGGAATAACACATCTATTTCGGACATGATAATAAAAAAACATGGTGTTTACAAGGCAAGCCTGGCGGCTTCTCGGAAAAGACCCAGCTAGTTCACGTTCTGGACTCTCGGCATGGCAGCCCACCTAGGGTCACTGGTTTCAGCTAGGTCACCCCCTCAATCAGGGGACAAACAGTGCCTTT... | TGCGGTGCAAGGCTGGGTAACTGACGAGGGGGCCGGGGATGGCCTCATGGAAAACGCTTCCATAAATGGGCATGTTTGCCTCAATCTCTGCCCTCCCACGGAAAAGTAATGATAACAAATCCATAACAGATACCTTGTACGGAATAACACATCTATTTCGGACATGATAATAAAAAAACATGGTGTTTACAAGGCAAGCCTGGCGGCTTCTCGGAAAAGACCCAGCTAGTTCACGTTCTGGACTCTCGGCATGGCAGCCCACCTAGGGTCACTGGTTTCAGCTAGGTCACCCCCTCAATCAGGGGACAAACAGTGCCTTT... | benign | 247,977 |
Considering the variant on chromosome 16, location 16150726, involving gene ABCC6 (ATP binding cassette subfamily C member 6), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Arterial_calcification,_generalized,_of_infancy,_2', 'Autosomal_recessive_inherited_pseudoxanthoma_elasticum', 'Pseudoxanthoma_elasticum,_forme_fruste'] | GTGGGAGAATCGCTTGAGCCCGGGAGGTGGAGGTTGCAGTGAGTCAAGATTGCACCCCTGCACTCCGGCTTGGGTGACAGAGTGAGACTTTGTCTCGGACAAAAAAAAAAAAAAAAAAAAAAAGAACCAAGTCCTCGGGCAAATTCTCCCATTGAGGGCTGTGAAGTCTTGGCTCCTCTGTTGTTTGTTTTGGAAACCAAACTTGCATATTTGACTTTCTCATGCGTGGAGAGGACCCATGCTTGGCATGGGGGGGCACCTGGTTTTTGTGTCCTTGGAGCTCATCTCTGGTGGGGGAGGAGGAGCAGCAGGAGATGCGA... | GTGGGAGAATCGCTTGAGCCCGGGAGGTGGAGGTTGCAGTGAGTCAAGATTGCACCCCTGCACTCCGGCTTGGGTGACAGAGTGAGACTTTGTCTCGGACAAAAAAAAAAAAAAAAAAAAAAAGAACCAAGTCCTCGGGCAAATTCTCCCATTGAGGGCTGTGAAGTCTTGGCTCCTCTGTTGTTTGTTTTGGAAACCAAACTTGCATATTTGACTTTCTCATGCGTGGAGAGGACCCATGCTTGGCATGGGGGGGCACCTGGTTTTTGTGTCCTTGGAGCTCATCTCTGGTGGGGGAGGAGGAGCAGCAGGAGATGCGA... | pathogenic | 248,000 |
Variant at chromosome 16, position 16154653, gene ABCC6 (ATP binding cassette subfamily C member 6): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Arterial_calcification,_generalized,_of_infancy,_2', 'Autosomal_recessive_inherited_pseudoxanthoma_elasticum', 'Pseudoxanthoma_elasticum,_forme_fruste'] | ATAATTCAATCCTTGCAAGGTAGGTAGGTGCTATTATTCCCACCTTACAGATGAGGAAACTGAGGCACACAAGATAAGTTGCCTAAGATCCTACAGCTAGTAAGTGGCAGGGCGGGGCGGGGGTGGGGGTGTGGGGTGGGGGGCCTGGATTTGAGCCCAGGCAGTCTGTCACCTGTGTATACTCTTACCCACCAAGCAACGCTGCCTCTCTAGTGCTGGAAATTATTGCCTACCACAAGCCCTTCGGACACCCTCAGGGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTTTTTTTGAGACGGAGT... | ATAATTCAATCCTTGCAAGGTAGGTAGGTGCTATTATTCCCACCTTACAGATGAGGAAACTGAGGCACACAAGATAAGTTGCCTAAGATCCTACAGCTAGTAAGTGGCAGGGCGGGGCGGGGGTGGGGGTGTGGGGTGGGGGGCCTGGATTTGAGCCCAGGCAGTCTGTCACCTGTGTATACTCTTACCCACCAAGCAACGCTGCCTCTCTAGTGCTGGAAATTATTGCCTACCACAAGCCCTTCGGACACCCTCAGGGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTTTTTTTGAGACGGAGT... | pathogenic | 248,009 |
Variant in ABCC6 (ATP binding cassette subfamily C member 6), chromosome 16, position 16154731—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Abnormality_of_the_eye', 'Arterial_calcification,_generalized,_of_infancy,_2', 'Autosomal_recessive_inherited_pseudoxanthoma_elasticum', 'Pseudoxanthoma_elasticum,_forme_fruste'] | TTGCCTAAGATCCTACAGCTAGTAAGTGGCAGGGCGGGGCGGGGGTGGGGGTGTGGGGTGGGGGGCCTGGATTTGAGCCCAGGCAGTCTGTCACCTGTGTATACTCTTACCCACCAAGCAACGCTGCCTCTCTAGTGCTGGAAATTATTGCCTACCACAAGCCCTTCGGACACCCTCAGGGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTTTTTTTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGAT... | TTGCCTAAGATCCTACAGCTAGTAAGTGGCAGGGCGGGGCGGGGGTGGGGGTGTGGGGTGGGGGGCCTGGATTTGAGCCCAGGCAGTCTGTCACCTGTGTATACTCTTACCCACCAAGCAACGCTGCCTCTCTAGTGCTGGAAATTATTGCCTACCACAAGCCCTTCGGACACCCTCAGGGTCAGAGGGGTTTATAAATCCAGAACACCTTAGGTTTTTTTTTGTTTTTTTTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGAT... | pathogenic | 248,012 |
Considering the genetic mutation at chromosome 16, position 16154926, impacting ABCC6 (ATP binding cassette subfamily C member 6): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Arterial_calcification,_generalized,_of_infancy,_2', 'Autosomal_recessive_inherited_pseudoxanthoma_elasticum', 'Pseudoxanthoma_elasticum,_forme_fruste'] | AAATCCAGAACACCTTAGGTTTTTTTTTGTTTTTTTTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTGCTAGGATTACAGGCATGAGCCACCGCG... | AAATCCAGAACACCTTAGGTTTTTTTTTGTTTTTTTTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGTGTCTTAGCCTCCCACGTAACTGGGATTACAGGCGCCTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGCTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCATAGTGCTAGGATTACAGGCATGAGCCACCGCG... | pathogenic | 248,022 |
Gene mutation in ABCC6 (ATP binding cassette subfamily C member 6) at chromosome 16, position 16157769—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Arterial_calcification,_generalized,_of_infancy,_2', 'Autosomal_recessive_inherited_pseudoxanthoma_elasticum', 'Pseudoxanthoma_elasticum,_forme_fruste', 'Retinal_dystrophy'] | GGTGTGGGTTCAACATTATTTGTTTAATTAATGATGGAAACATGTGGGTCACCCCACTGTATGCCAAGTACCTGTTTAGGCACCGGAAGTATAGAAATTAAAGAGTCCTTGCTCCAGTGTGCCCATCATCCGGTCTAGGAAACAGTGCAATTGAGTAAATGTAATACAGTGTGATGAACAATGCTTTATTTATTTATTTATTTATTTATTTTTGAGATAAAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCC... | GGTGTGGGTTCAACATTATTTGTTTAATTAATGATGGAAACATGTGGGTCACCCCACTGTATGCCAAGTACCTGTTTAGGCACCGGAAGTATAGAAATTAAAGAGTCCTTGCTCCAGTGTGCCCATCATCCGGTCTAGGAAACAGTGCAATTGAGTAAATGTAATACAGTGTGATGAACAATGCTTTATTTATTTATTTATTTATTTATTTTTGAGATAAAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCC... | pathogenic | 248,042 |
The mutation impacting ABCC6 (ATP binding cassette subfamily C member 6) on chromosome 16 at position 16157770: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Arterial_calcification,_generalized,_of_infancy,_2', 'Autosomal_recessive_inherited_pseudoxanthoma_elasticum', 'Pseudoxanthoma_elasticum,_forme_fruste'] | GTGTGGGTTCAACATTATTTGTTTAATTAATGATGGAAACATGTGGGTCACCCCACTGTATGCCAAGTACCTGTTTAGGCACCGGAAGTATAGAAATTAAAGAGTCCTTGCTCCAGTGTGCCCATCATCCGGTCTAGGAAACAGTGCAATTGAGTAAATGTAATACAGTGTGATGAACAATGCTTTATTTATTTATTTATTTATTTATTTTTGAGATAAAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCT... | GTGTGGGTTCAACATTATTTGTTTAATTAATGATGGAAACATGTGGGTCACCCCACTGTATGCCAAGTACCTGTTTAGGCACCGGAAGTATAGAAATTAAAGAGTCCTTGCTCCAGTGTGCCCATCATCCGGTCTAGGAAACAGTGCAATTGAGTAAATGTAATACAGTGTGATGAACAATGCTTTATTTATTTATTTATTTATTTATTTTTGAGATAAAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCT... | pathogenic | 248,043 |
A genetic alteration at chromosome 16, position 16159426, in gene ABCC6 (ATP binding cassette subfamily C member 6)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AACACACTGCCCAGCACATATTAGGTGCTGGGTTAATGTTAAAGGAAGAAGGAAGTCACGGAGTTGCTTCCTCATCTGGGGACACCAAGGTGGATGAGGAAGTCACCAGATGGAAGCAGGTTTGGGGAAGGTGAGGAGTTCATTTTAGGGGGTAATGGGTCTGAAAGCTAGGGGACCTGAGGTGGGGACACTGTGGAGGTGGCTGGTGCCCAGGGTTTAGGGCCTTGTCCCTGGAGTCCTTTGGCCTAAACTCCATGAAGAAGACATTGTGAGAGAACCACTCACCTTCTCTCCTGCGTGGATCTTGAAGGACACGCCCT... | AACACACTGCCCAGCACATATTAGGTGCTGGGTTAATGTTAAAGGAAGAAGGAAGTCACGGAGTTGCTTCCTCATCTGGGGACACCAAGGTGGATGAGGAAGTCACCAGATGGAAGCAGGTTTGGGGAAGGTGAGGAGTTCATTTTAGGGGGTAATGGGTCTGAAAGCTAGGGGACCTGAGGTGGGGACACTGTGGAGGTGGCTGGTGCCCAGGGTTTAGGGCCTTGTCCCTGGAGTCCTTTGGCCTAAACTCCATGAAGAAGACATTGTGAGAGAACCACTCACCTTCTCTCCTGCGTGGATCTTGAAGGACACGCCCT... | benign | 248,045 |
Does the chromosome 16 mutation at position 16161455 within gene ABCC6 (ATP binding cassette subfamily C member 6) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic | ATGTCAACAGGGACCCATTGCCCCCCCCCACAATATGTCCTTGCTGGGACCCCCTCCCCACCTCCCGCCCATCACCTCCTTGGGCGTCCAGGCATAGTCCTGCATCCGCTCCACTGACACGATGCTGTTCTCTAGGTCTGTCCAGTTGCGAACAACCCACTGCAGTGTCTGGGTCACCTGGTGCAAGAAAGCCTCTCTGGCTGGGTTTGGCAAGGCCACTTGAGGGCTTGCAACAGCCCCCCTGGTTTCCCAACCTTTTCTGGGAGGCCAGACCCAGGGGAGTAAAGAGGGGAGGCAGGAATGGGACAGTCTGAGGACCT... | ATGTCAACAGGGACCCATTGCCCCCCCCCACAATATGTCCTTGCTGGGACCCCCTCCCCACCTCCCGCCCATCACCTCCTTGGGCGTCCAGGCATAGTCCTGCATCCGCTCCACTGACACGATGCTGTTCTCTAGGTCTGTCCAGTTGCGAACAACCCACTGCAGTGTCTGGGTCACCTGGTGCAAGAAAGCCTCTCTGGCTGGGTTTGGCAAGGCCACTTGAGGGCTTGCAACAGCCCCCCTGGTTTCCCAACCTTTTCTGGGAGGCCAGACCCAGGGGAGTAAAGAGGGGAGGCAGGAATGGGACAGTCTGAGGACCT... | pathogenic | 248,057 |
Determine whether the variant at chromosome 16, position 16162987, in gene ABCC6 (ATP binding cassette subfamily C member 6) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_inherited_pseudoxanthoma_elasticum'] | TTAATAGTTAACAAAAATTAGCCAGGCATAGTGGCTCACGCCTGTAATTCCAGCAACTTGGGAGGCTGAGGCATAAGAATCGCTTGAACCCAGGAGGCAGAGTTCTCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGAGTAAAAGAGAGAGACTCTGTCTTCAAAACAAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAG... | TTAATAGTTAACAAAAATTAGCCAGGCATAGTGGCTCACGCCTGTAATTCCAGCAACTTGGGAGGCTGAGGCATAAGAATCGCTTGAACCCAGGAGGCAGAGTTCTCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGAGTAAAAGAGAGAGACTCTGTCTTCAAAACAAAACAAAAGTTAACAATGCACTAGAAATGTCCTCCACAGGATATGCTTTGTCTCAACTAGTCTTTATAACATCAGAAGTAGTGGGATTTCTGGCCTGTCTTTCCAAGGAGCACACTGACACTCCACAAGGAAAGACTCTTGCCCAAG... | pathogenic | 248,068 |
Located at chromosome 16 position 16169774, the variant affecting gene ABCC6 (ATP binding cassette subfamily C member 6)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Arterial_calcification,_generalized,_of_infancy,_2', 'Autosomal_recessive_inherited_pseudoxanthoma_elasticum', 'Pseudoxanthoma_elasticum,_forme_fruste'] | CCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTATCTGGCCTGGAGCTGAATTTTTTATTCTTTGTATTCGAGAGTCATAACCAATTTCTCTCTCTCAGCTCCCATCTCTCCATCTTTAGGGGAGAGTAAGACTTGCCCTTAGCTATCAAATGAGGGATGGAAGTGGAAGGATTTTGAAAGGGCTATTTGCCACCCAAATGAGGATTTGGGTTAATTCCAGGGCTCGGCTGACTCTGAGAATCCCTAATTTCCTCTTGGTTAAGTAACCATTCGCCTTGAGTATTCCACTGTACATGCAGTTGTGGTGAGTAGGTGTA... | CCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTATCTGGCCTGGAGCTGAATTTTTTATTCTTTGTATTCGAGAGTCATAACCAATTTCTCTCTCTCAGCTCCCATCTCTCCATCTTTAGGGGAGAGTAAGACTTGCCCTTAGCTATCAAATGAGGGATGGAAGTGGAAGGATTTTGAAAGGGCTATTTGCCACCCAAATGAGGATTTGGGTTAATTCCAGGGCTCGGCTGACTCTGAGAATCCCTAATTTCCTCTTGGTTAAGTAACCATTCGCCTTGAGTATTCCACTGTACATGCAGTTGTGGTGAGTAGGTGTA... | pathogenic | 248,095 |
A genetic variant at chromosome 16, position 16175776, affecting gene ABCC6 (ATP binding cassette subfamily C member 6)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TGCATTGCCCAGGTTGGTCTCAAACTCCTGAGCTCAAGCAATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCTGTTCTCAGAATTTTTATTTTGGCTTAAGCTTTCGTGCAATTGTTTTGTTCCTACTGTATACCATCAGATTTGTCAGTCCAACTGGCAGAATATAAATTATGCACAATTCAGATGCTAAAGACTCTTTGAATGTTTTATCTGTGGATGAGTGGGCTGACTTAACCTCTGTGCCTCAGTTTCCTCAGCTGTAAAAATAGGAATATTATCTATCTATCCAT... | TGCATTGCCCAGGTTGGTCTCAAACTCCTGAGCTCAAGCAATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCTGTTCTCAGAATTTTTATTTTGGCTTAAGCTTTCGTGCAATTGTTTTGTTCCTACTGTATACCATCAGATTTGTCAGTCCAACTGGCAGAATATAAATTATGCACAATTCAGATGCTAAAGACTCTTTGAATGTTTTATCTGTGGATGAGTGGGCTGACTTAACCTCTGTGCCTCAGTTTCCTCAGCTGTAAAAATAGGAATATTATCTATCTATCCAT... | benign | 248,108 |
Chromosome 16, position 16177499, gene ABCC6 (ATP binding cassette subfamily C member 6): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Arterial_calcification,_generalized,_of_infancy,_2', 'Autosomal_recessive_inherited_pseudoxanthoma_elasticum', 'Pseudoxanthoma_elasticum,_forme_fruste'] | GGGACCGGAGGCCTCCTCCTGGCCCCTTGCCCACGTGTTCTGGCCAGCGTCAAGTGATGCTGTGCATACAGACCCAAGCCCTGTGCATAGCCAGCCTGTCAAAGCATAAGTGGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGG... | GGGACCGGAGGCCTCCTCCTGGCCCCTTGCCCACGTGTTCTGGCCAGCGTCAAGTGATGCTGTGCATACAGACCCAAGCCCTGTGCATAGCCAGCCTGTCAAAGCATAAGTGGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGG... | pathogenic | 248,113 |
Is the variant located on chromosome 16 at position 16178874, gene ABCC6 (ATP binding cassette subfamily C member 6), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Arterial_calcification,_generalized,_of_infancy,_2', 'Autosomal_recessive_inherited_pseudoxanthoma_elasticum', 'Pseudoxanthoma_elasticum,_forme_fruste'] | TGTGAAATGGAAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCT... | TGTGAAATGGAAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCT... | pathogenic | 248,122 |
Is the variant located on chromosome 16 at position 16178965, gene ABCC6 (ATP binding cassette subfamily C member 6), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Arterial_calcification,_generalized,_of_infancy,_2', 'Autosomal_recessive_inherited_pseudoxanthoma_elasticum', 'Pseudoxanthoma_elasticum,_forme_fruste'] | TTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTT... | TTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTT... | pathogenic | 248,129 |
Variant in ABCC6 (ATP binding cassette subfamily C member 6), chromosome 16, position 16182874—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['ABCC6-related_disorder', 'Arterial_calcification,_generalized,_of_infancy,_2', 'Autosomal_recessive_inherited_pseudoxanthoma_elasticum', 'Pseudoxanthoma_elasticum,_forme_fruste'] | AACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCAGGTGGAAAGTGCTATGAAGAATAAATAGTAAAGCAGGGGGAGCCAGGTTCAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGCTGGGTGGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAA... | AACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCAGGTGGAAAGTGCTATGAAGAATAAATAGTAAAGCAGGGGGAGCCAGGTTCAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGCTGGGTGGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAA... | pathogenic | 248,140 |
Clinical significance of chromosome 16, position 16187133, gene ABCC6 (ATP binding cassette subfamily C member 6): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_inherited_pseudoxanthoma_elasticum'] | CTGCATCGGAGAGGCCCCCAGGCACCATCCCCCGCCCCCCCCAGGGGCAGAGGCTGCAGGAAGAAATCTCTCCCACTGAACAAATTGCCCTGCTACTCACTGGCTTGTGGGTGACCCCGCAGGGTTCTTGTTCTGTCCGTGTCCCATGGCTACATAATCCAGGGGGAGGCAAACTGTGGCCCAGAGACCAAATCCTGCCTGCTGCCTTTTCTTATAAATAAAGTTTTATTGGAACACGGCCACATCCATTCATTTCTCTATTTCATGCTTTGAGCAGTTGTGACAGAGACTGTGTGGCCCACAGGCCTAAAATATGCACA... | CTGCATCGGAGAGGCCCCCAGGCACCATCCCCCGCCCCCCCCAGGGGCAGAGGCTGCAGGAAGAAATCTCTCCCACTGAACAAATTGCCCTGCTACTCACTGGCTTGTGGGTGACCCCGCAGGGTTCTTGTTCTGTCCGTGTCCCATGGCTACATAATCCAGGGGGAGGCAAACTGTGGCCCAGAGACCAAATCCTGCCTGCTGCCTTTTCTTATAAATAAAGTTTTATTGGAACACGGCCACATCCATTCATTTCTCTATTTCATGCTTTGAGCAGTTGTGACAGAGACTGTGTGGCCCACAGGCCTAAAATATGCACA... | pathogenic | 248,153 |
Evaluate this variant at chromosome 16, position 16188935, gene ABCC6 (ATP binding cassette subfamily C member 6): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Arterial_calcification,_generalized,_of_infancy,_2', 'Autosomal_recessive_inherited_pseudoxanthoma_elasticum', 'Pseudoxanthoma_elasticum,_forme_fruste'] | ACACCCAGGATGGTACAAAGTGGGCGCTCAGTGAGTGGTCGCTGAATGGCTAGCAGAAAGAAGAGCAGCACGGTGCCAGTTTCCAAGTGACACGCAGATGGCGTGATCTGCACGTGTCATCCATTGCCCGCAGCCCCCATCTCCCCCCAGTACTGATGCTGGCTTGCCATTATGGGCTGGGGTGGCCCCCACATCCCCCATCCCTCCCACACCCCTCCTGCCAGACTCAGCACTCACCGCTTCCAGAGGAACTTGAGTCTACGACACCAGGGTCAACTTCTTCCAGGCAGAGGAAGGTGACCAGACGGTCAAAGGACACC... | ACACCCAGGATGGTACAAAGTGGGCGCTCAGTGAGTGGTCGCTGAATGGCTAGCAGAAAGAAGAGCAGCACGGTGCCAGTTTCCAAGTGACACGCAGATGGCGTGATCTGCACGTGTCATCCATTGCCCGCAGCCCCCATCTCCCCCCAGTACTGATGCTGGCTTGCCATTATGGGCTGGGGTGGCCCCCACATCCCCCATCCCTCCCACACCCCTCCTGCCAGACTCAGCACTCACCGCTTCCAGAGGAACTTGAGTCTACGACACCAGGGTCAACTTCTTCCAGGCAGAGGAAGGTGACCAGACGGTCAAAGGACACC... | pathogenic | 248,159 |
Chromosome 16, position 16190189, gene ABCC6 (ATP binding cassette subfamily C member 6): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_inherited_pseudoxanthoma_elasticum'] | AGGCCAAGGTGGGCAGATCACCTGAGGTCAGCGGTTCAAGACCTGCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTTGTGCATGCCTGTGGTCCCAGCTACTTGGCAGGCTGGGGCAGGAGAATCACTTGAATCTGCGAGGTAGATCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAAAATAAAAAATAAAAAACATGGAGATGGCTCAGGTATGCCGCCGTTTCTTG... | AGGCCAAGGTGGGCAGATCACCTGAGGTCAGCGGTTCAAGACCTGCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTTGTGCATGCCTGTGGTCCCAGCTACTTGGCAGGCTGGGGCAGGAGAATCACTTGAATCTGCGAGGTAGATCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAAAATAAAAAATAAAAAACATGGAGATGGCTCAGGTATGCCGCCGTTTCTTG... | pathogenic | 248,164 |
Clinically, how would you classify the variant at chromosome 16, position 16198070, gene ABCC6 (ATP binding cassette subfamily C member 6): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Pseudoxanthoma_elasticum,_forme_fruste'] | CAACATGGTGAAACCCAGTTTCTACTAAAAATACAAAAATTAGCCAGATGTTGTGGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGATAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAAGTTGTGCCATTGCACCAAAGCCTGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATCAAAAGGATACTATTTCACGACATATGAAAATGATATGCACTTCAAATGTCAGCATCCATAAATAGAGTTTTATTGGAGGAATACCATGCCTGTTTGCTTAGTATGGTCTACAGC... | CAACATGGTGAAACCCAGTTTCTACTAAAAATACAAAAATTAGCCAGATGTTGTGGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGATAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAAGTTGTGCCATTGCACCAAAGCCTGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATCAAAAGGATACTATTTCACGACATATGAAAATGATATGCACTTCAAATGTCAGCATCCATAAATAGAGTTTTATTGGAGGAATACCATGCCTGTTTGCTTAGTATGGTCTACAGC... | pathogenic | 248,183 |
Clinically, how would you classify the variant at chromosome 16, position 16203406, gene ABCC6 (ATP binding cassette subfamily C member 6): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['ABCC6-related_disorder', 'Arterial_calcification,_generalized,_of_infancy,_2', 'Autosomal_recessive_inherited_pseudoxanthoma_elasticum', 'Pseudoxanthoma_elasticum,_forme_fruste'] | ATGAGTGGAAGTTAAAATCAGGCTCAAAAATTAAAATTAGATTGGGGGAGTAGAAGTGGTGCCTAGACAGTGAGAACAGCTGCAAAGGCCCCAGGGTGGGTGGGGGCCTGGAGTGTTTGAGGAACTGAAAGGAGACCTGTGTGGCTGGAGGAGAGTGAGCATGGGAGGAGGTGACGGGATGAGGTCAGAGACACCCTAGGGACAGATCACACAAGACCTTACAGGAATAACTAAGGAGCTGAGACAGATCACTTGAGGCTAGGAGTTCGAGACCAGCCTGACCAACATGGCAAAACCTTGTCTCTACCAAAAATATAAAA... | ATGAGTGGAAGTTAAAATCAGGCTCAAAAATTAAAATTAGATTGGGGGAGTAGAAGTGGTGCCTAGACAGTGAGAACAGCTGCAAAGGCCCCAGGGTGGGTGGGGGCCTGGAGTGTTTGAGGAACTGAAAGGAGACCTGTGTGGCTGGAGGAGAGTGAGCATGGGAGGAGGTGACGGGATGAGGTCAGAGACACCCTAGGGACAGATCACACAAGACCTTACAGGAATAACTAAGGAGCTGAGACAGATCACTTGAGGCTAGGAGTTCGAGACCAGCCTGACCAACATGGCAAAACCTTGTCTCTACCAAAAATATAAAA... | pathogenic | 248,195 |
Is the variant located on chromosome 16 at position 16221671, gene ABCC6 (ATP binding cassette subfamily C member 6), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['ABCC6-related_disorder', 'Arterial_calcification,_generalized,_of_infancy,_2', 'Autosomal_recessive_inherited_pseudoxanthoma_elasticum', 'Pseudoxanthoma_elasticum,_forme_fruste'] | CACTCCAGATGACTGGACTCCCTTTTTCCTCTCGGTGTGAATCAGGAACACTGCGAAGCTCTGGACGGGAAAGTCAGGGAGGCCCCTTAGGGGAGGGTGGGAGGCTGAGGGGAGCCTCTTCTCTTCCCCTTGTTCTCCACTGTGGCAGGCAAAGCAGCAGCTGGGAGGAAGCCGGGCTCCAGACTGAAGGCATCATTACCATCGTGGTGAGCCACACAGTAGGATGAATGAGGAATTCTGGGGCCTCAGGCGTTCCCTGTTGGATTTTCCAAAGAGCGACAGCCACGCTGGAGGTACACAGGACTATGAGGGCGAATCCA... | CACTCCAGATGACTGGACTCCCTTTTTCCTCTCGGTGTGAATCAGGAACACTGCGAAGCTCTGGACGGGAAAGTCAGGGAGGCCCCTTAGGGGAGGGTGGGAGGCTGAGGGGAGCCTCTTCTCTTCCCCTTGTTCTCCACTGTGGCAGGCAAAGCAGCAGCTGGGAGGAAGCCGGGCTCCAGACTGAAGGCATCATTACCATCGTGGTGAGCCACACAGTAGGATGAATGAGGAATTCTGGGGCCTCAGGCGTTCCCTGTTGGATTTTCCAAAGAGCGACAGCCACGCTGGAGGTACACAGGACTATGAGGGCGAATCCA... | pathogenic | 248,211 |
Is the genetic variant on chromosome 16, position 16221762, gene ABCC6 (ATP binding cassette subfamily C member 6), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['ABCC6-related_disorder', 'Autosomal_recessive_inherited_pseudoxanthoma_elasticum'] | GGAGGGTGGGAGGCTGAGGGGAGCCTCTTCTCTTCCCCTTGTTCTCCACTGTGGCAGGCAAAGCAGCAGCTGGGAGGAAGCCGGGCTCCAGACTGAAGGCATCATTACCATCGTGGTGAGCCACACAGTAGGATGAATGAGGAATTCTGGGGCCTCAGGCGTTCCCTGTTGGATTTTCCAAAGAGCGACAGCCACGCTGGAGGTACACAGGACTATGAGGGCGAATCCAAGCACCTGAGGATACAGGCTTAGATAAGCTTGGGGGGCAATAAGAGAGGTCACAGCAAACTGGTAGGCGGCCCCATGTCCAACTGGGAGCT... | GGAGGGTGGGAGGCTGAGGGGAGCCTCTTCTCTTCCCCTTGTTCTCCACTGTGGCAGGCAAAGCAGCAGCTGGGAGGAAGCCGGGCTCCAGACTGAAGGCATCATTACCATCGTGGTGAGCCACACAGTAGGATGAATGAGGAATTCTGGGGCCTCAGGCGTTCCCTGTTGGATTTTCCAAAGAGCGACAGCCACGCTGGAGGTACACAGGACTATGAGGGCGAATCCAAGCACCTGAGGATACAGGCTTAGATAAGCTTGGGGGGCAATAAGAGAGGTCACAGCAAACTGGTAGGCGGCCCCATGTCCAACTGGGAGCT... | pathogenic | 248,213 |
Classify the chromosome 16 variant at position 17127765 affecting gene XYLT1 (xylosyltransferase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Desbuquois_dysplasia_1'] | ATACCTGTCATTAGCTGAGCTGTTTGTTTTTGTTTATCTATTTGCTCACTCACTGGCTGGCTGTCTCATTGGAATGCAATTCCATGACCACAGGGGCCTGGTTTGTTTGGTTCACCACAATCCCTCCTGAACCTGGCACACTGTAGGCACTTGGTGACTACCTGCAGAAAGAATGAGCATCTTTTATTTCCAAGTCAACAGCATGAGATTCCCATGTATTGGAGAAATGTATCTGAGCTGTTCAGCCACCTGCTGTGAGCCAGGCACTGTACAAGGCCCTGGGATAGTGCTAACACCAAGGAGATCCTAAATAGCCCACA... | ATACCTGTCATTAGCTGAGCTGTTTGTTTTTGTTTATCTATTTGCTCACTCACTGGCTGGCTGTCTCATTGGAATGCAATTCCATGACCACAGGGGCCTGGTTTGTTTGGTTCACCACAATCCCTCCTGAACCTGGCACACTGTAGGCACTTGGTGACTACCTGCAGAAAGAATGAGCATCTTTTATTTCCAAGTCAACAGCATGAGATTCCCATGTATTGGAGAAATGTATCTGAGCTGTTCAGCCACCTGCTGTGAGCCAGGCACTGTACAAGGCCCTGGGATAGTGCTAACACCAAGGAGATCCTAAATAGCCCACA... | pathogenic | 248,234 |
Gene mutation in COQ7 at chromosome 16, position 19067678—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TTTTTTTTTTTTGAGCCAGAGTCTAGGTCTATCACCCACTCTGGAGTGCAGTGGTGTGATCATGGCTCAGTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTTTTAGCCTCACAAGTAGGTGGGATCAGAGGCACACACCACCATGCCTGACTAATTTTTAAAATTTTTTGTAGAGATGGAATCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCTCGCCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACTCGGACATGATGTTTTGATATTCAATTGTTGCTTAA... | TTTTTTTTTTTTGAGCCAGAGTCTAGGTCTATCACCCACTCTGGAGTGCAGTGGTGTGATCATGGCTCAGTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTTTTAGCCTCACAAGTAGGTGGGATCAGAGGCACACACCACCATGCCTGACTAATTTTTAAAATTTTTTGTAGAGATGGAATCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCTCGCCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACTCGGACATGATGTTTTGATATTCAATTGTTGCTTAA... | benign | 248,289 |
The chromosome 16, position 20348745 genetic variant in gene UMOD (uromodulin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_juvenile_hyperuricemic_nephropathy_type_1', 'UMOD-related_disorder'] | AAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCT... | AAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCT... | pathogenic | 248,372 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 20349012, gene UMOD (uromodulin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_dominant_medullary_cystic_kidney_disease_with_or_without_hyperuricemia', 'Familial_juvenile_hyperuricemic_nephropathy_type_1'] | CAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCA... | CAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCA... | pathogenic | 248,381 |
Determine whether the variant at chromosome 16, position 20737728, in gene ACSM3 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Neurodevelopmental_disorder', 'Neurodevelopmental_disorder_with_speech_delay_and_variable_ocular_anomalies'] | AGTTTTCTTTGAATTTCATCATTTACAAATCTTACAAATGCTACAGCATGACAAATATTAGTGAAACCTGTTGACTCATCATCCTGGATAGAGAAGCTGCTACTTTTCAGTTAATGACACAAAACCTTTTTTGCATCATATGACATATCATCAGTAAATCAACTTATTGAGAATAAAGTCTCTTCAACTTTGTACTGCATCTTGCCCCAGCATTTTAATGTTATTAGATTCTCACCAACCATGCATATTTTCCTTTCCTGAGATAAGTTCTGCTACTAAATAATTTGCTTCTTAAACCTTTTGACTAAAGGTGATTTCTG... | AGTTTTCTTTGAATTTCATCATTTACAAATCTTACAAATGCTACAGCATGACAAATATTAGTGAAACCTGTTGACTCATCATCCTGGATAGAGAAGCTGCTACTTTTCAGTTAATGACACAAAACCTTTTTTGCATCATATGACATATCATCAGTAAATCAACTTATTGAGAATAAAGTCTCTTCAACTTTGTACTGCATCTTGCCCCAGCATTTTAATGTTATTAGATTCTCACCAACCATGCATATTTTCCTTTCCTGAGATAAGTTCTGCTACTAAATAATTTGCTTCTTAAACCTTTTGACTAAAGGTGATTTCTG... | pathogenic | 248,396 |
Variant at chromosome 16, position 21687574, gene OTOA (otoancorin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_22'] | ACTTACTTTCTCCAAAGTTAAAATGAAGAGCCTTACAATTTTTTATTTTATTTTTGTTTTAGAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGTAACTTCTGCCTCCTGGGTTTAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGTGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGATTTTGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATTTGCCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAT... | ACTTACTTTCTCCAAAGTTAAAATGAAGAGCCTTACAATTTTTTATTTTATTTTTGTTTTAGAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGTAACTTCTGCCTCCTGGGTTTAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGTGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGATTTTGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATTTGCCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAT... | pathogenic | 248,461 |
Considering the genetic mutation at chromosome 16, position 21697781, impacting OTOA (otoancorin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Rare_genetic_deafness'] | GCTCCCCACTTCCTTCATTTTCCCCAAATGCCTCCAATACAATATCGTGTGTAAATGTCTTTTGCTAAAGAGCTGGGGAGCATTGGCAGCCACTTCCAGCTCAGTGAAACTTGAAGTCTGATCCTAGACTTGAGATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTCTGAGATGGAGTCTGGCTCTGTCACTCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCGTGCGCTACCACG... | GCTCCCCACTTCCTTCATTTTCCCCAAATGCCTCCAATACAATATCGTGTGTAAATGTCTTTTGCTAAAGAGCTGGGGAGCATTGGCAGCCACTTCCAGCTCAGTGAAACTTGAAGTCTGATCCTAGACTTGAGATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTCTGAGATGGAGTCTGGCTCTGTCACTCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCGTGCGCTACCACG... | pathogenic | 248,467 |
For chromosome 16, position 21697861, gene OTOA (otoancorin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_22', 'OTOA-related_disorder', 'Rare_genetic_deafness'] | CATTGGCAGCCACTTCCAGCTCAGTGAAACTTGAAGTCTGATCCTAGACTTGAGATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTCTGAGATGGAGTCTGGCTCTGTCACTCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCGTGCGCTACCACGCCTGGCTAATTTTTGTAGTTTTATTAGAGATGGGGTTTCGCCATGTTGACCAGTATGCTCTCGATCTCCTGACCTTGTGA... | CATTGGCAGCCACTTCCAGCTCAGTGAAACTTGAAGTCTGATCCTAGACTTGAGATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTCTGAGATGGAGTCTGGCTCTGTCACTCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCGTGCGCTACCACGCCTGGCTAATTTTTGTAGTTTTATTAGAGATGGGGTTTCGCCATGTTGACCAGTATGCTCTCGATCTCCTGACCTTGTGA... | pathogenic | 248,470 |
Mutation found at chromosome 16 position 21719133, gene OTOA (otoancorin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_22'] | ACTATCTGTCTTGTGAGAATGAATGGTCTGTTTTAAGGTTAATTTGATAAAAGAAATTTATTTCTGTGGGATTAGTATAGGAGGCAGAATAGTATAGTGTTAAGAATTTGGACAGGCTGAGGCAGGAGGATCGCTTGACGCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCAAGATCCTGTCTCTACAAAAAGTTAAAAAATTAGCCAGGCATGGTGATGCATGTCTGTGGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCACATGAGCATGGGAGTTCCGCAATGCAGTGAGTTATGGTCATGCTACTC... | ACTATCTGTCTTGTGAGAATGAATGGTCTGTTTTAAGGTTAATTTGATAAAAGAAATTTATTTCTGTGGGATTAGTATAGGAGGCAGAATAGTATAGTGTTAAGAATTTGGACAGGCTGAGGCAGGAGGATCGCTTGACGCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCAAGATCCTGTCTCTACAAAAAGTTAAAAAATTAGCCAGGCATGGTGATGCATGTCTGTGGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCACATGAGCATGGGAGTTCCGCAATGCAGTGAGTTATGGTCATGCTACTC... | pathogenic | 248,494 |
A mutation at chromosome position 21719461 on chromosome 16 in gene OTOA (otoancorin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_22', 'Rare_genetic_deafness'] | TCTGGGCGACAGAGCGAGACCCTGTCTCTTAAAAAAAAAGTTAGACAAGACCTGAGCATGAATTCTGGCTCCCACTTATTTATTAGCTTTGGAGAAGTTCCTTATATGGCCTCAGTTTTCTCATGTGCGAAATGGGGATAATTTTGATAATAAAATGAGGGTCACTGATACATGCCACCTGGGCTGTGTACTGTAAGTATTCGCGGCTATTATGTGTATTATTAAATGCTGTGAGCATTGAGGCCGCTTGGGGGGATGGTGCTGTTGAAGTGGATGCTCTGCCTTAGTACCATCGTTGACTACCTTTGTATTCAGTCAGT... | TCTGGGCGACAGAGCGAGACCCTGTCTCTTAAAAAAAAAGTTAGACAAGACCTGAGCATGAATTCTGGCTCCCACTTATTTATTAGCTTTGGAGAAGTTCCTTATATGGCCTCAGTTTTCTCATGTGCGAAATGGGGATAATTTTGATAATAAAATGAGGGTCACTGATACATGCCACCTGGGCTGTGTACTGTAAGTATTCGCGGCTATTATGTGTATTATTAAATGCTGTGAGCATTGAGGCCGCTTGGGGGGATGGTGCTGTTGAAGTGGATGCTCTGCCTTAGTACCATCGTTGACTACCTTTGTATTCAGTCAGT... | pathogenic | 248,495 |
The genetic variant at chromosome 16, position 21736308, affecting gene OTOA (otoancorin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_22'] | TAATGCAGAAACAGAAAACCAAATACCGCATGTTCTTACTTATAAGTGGGAGCTAAATGATGAGAACACGTTGTCACATAGAATGGAACAGCAGATACTGGGGCCTATTGGAGAGTGAAAGGTGGGAGGAGGGAGAAGATCAGCAAAAATAACTAATGGGTACTAGGCTTAATACCTGGGTGATTAAATAATTTGTACAACAAACCTCCATGACACAAGCTTACCTATATAACAAACCTGCCATGTACCCCTGAACTTAAAATAAAAGTTAAATTAAAAAAAATAAAATAAAAAGGGCCAGGTGCAGTGGCTCATGCCTG... | TAATGCAGAAACAGAAAACCAAATACCGCATGTTCTTACTTATAAGTGGGAGCTAAATGATGAGAACACGTTGTCACATAGAATGGAACAGCAGATACTGGGGCCTATTGGAGAGTGAAAGGTGGGAGGAGGGAGAAGATCAGCAAAAATAACTAATGGGTACTAGGCTTAATACCTGGGTGATTAAATAATTTGTACAACAAACCTCCATGACACAAGCTTACCTATATAACAAACCTGCCATGTACCCCTGAACTTAAAATAAAAGTTAAATTAAAAAAAATAAAATAAAAAGGGCCAGGTGCAGTGGCTCATGCCTG... | pathogenic | 248,510 |
Is the chromosome 16, position 23355360 variant in SCNN1B (sodium channel epithelial 1 subunit beta) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Liddle_syndrome_1', 'Pseudohypoaldosteronism,_type_IB2,_autosomal_recessive'] | TCACATGACTAAGAAATCCAGAGGTATACTGCATTCAGGCAAGGCTGGATCCAGGTATTCTAATGAGGTCATCAGGAATCTTTCTCCGTCTTGGTTCAACTTTTCTCTCAGGCGACTTCACTCTCAGGCAAGATCTCTCCATGTGGAGGGATCCCCTCAGTGCCCTTGCTTAGCAGTGGTCCCAGAAAAAGAGCTCTTTCCCTATAGTCCCAGCAAAGGTCCTAAGAAGACTCATTAGATCACATGCTCACCCCTAAACCAATCACTGTGGGCTACAGCAGGGGCTCTCATGATTGGCCAGTCCTGGGCCATGTGCCCTG... | TCACATGACTAAGAAATCCAGAGGTATACTGCATTCAGGCAAGGCTGGATCCAGGTATTCTAATGAGGTCATCAGGAATCTTTCTCCGTCTTGGTTCAACTTTTCTCTCAGGCGACTTCACTCTCAGGCAAGATCTCTCCATGTGGAGGGATCCCCTCAGTGCCCTTGCTTAGCAGTGGTCCCAGAAAAAGAGCTCTTTCCCTATAGTCCCAGCAAAGGTCCTAAGAAGACTCATTAGATCACATGCTCACCCCTAAACCAATCACTGTGGGCTACAGCAGGGGCTCTCATGATTGGCCAGTCCTGGGCCATGTGCCCTG... | pathogenic | 248,601 |
Assess the variant on chromosome 16, position 23380661, impacting SCNN1B (sodium channel epithelial 1 subunit beta): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic | CAGGGCTGTGGTCTACCTCCCCCAGGGAACAGAGCCATGACTGGGAGGGATGCTGCAGATGGCAACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGC... | CAGGGCTGTGGTCTACCTCCCCCAGGGAACAGAGCCATGACTGGGAGGGATGCTGCAGATGGCAACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGC... | pathogenic | 248,632 |
Mutation found at chromosome 16 position 23380661, gene SCNN1B (sodium channel epithelial 1 subunit beta): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic | CAGGGCTGTGGTCTACCTCCCCCAGGGAACAGAGCCATGACTGGGAGGGATGCTGCAGATGGCAACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGC... | CAGGGCTGTGGTCTACCTCCCCCAGGGAACAGAGCCATGACTGGGAGGGATGCTGCAGATGGCAACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGC... | pathogenic | 248,633 |
Is the genetic change at chromosome 16, position 23388624, within gene COG7 (component of oligomeric golgi complex 7) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTGGCATCTAGTGGGTCAGGAAAGTTAAACAGCCTGCAACGCACAGAACAGCGTCAAACGCAGAGCTGTACAGCCCAAAACGTCAATAGCCAAGGCTGAGAAACGCTGGTAGAAGCCAGCCTGGGCTTTCCCGCCTCCTTTGTAGCGGGGATGCCTCATGACTGAGAAACAGCCAGTGAGGGCTAGGAGAAGGCTGGCCAGGGCTTCCAGGGAAGCCGCCACTTGCATGATAGAAGGGACAGAATTGCTGCTCTACCTTCTCTGCTCCCTTTTTCCCTGAATGCAGATGCAGCACCTGCAGTTGCAAGAGTCACCTGCCA... | CTGGCATCTAGTGGGTCAGGAAAGTTAAACAGCCTGCAACGCACAGAACAGCGTCAAACGCAGAGCTGTACAGCCCAAAACGTCAATAGCCAAGGCTGAGAAACGCTGGTAGAAGCCAGCCTGGGCTTTCCCGCCTCCTTTGTAGCGGGGATGCCTCATGACTGAGAAACAGCCAGTGAGGGCTAGGAGAAGGCTGGCCAGGGCTTCCAGGGAAGCCGCCACTTGCATGATAGAAGGGACAGAATTGCTGCTCTACCTTCTCTGCTCCCTTTTTCCCTGAATGCAGATGCAGCACCTGCAGTTGCAAGAGTCACCTGCCA... | benign | 248,639 |
Variant in COG7 (component of oligomeric golgi complex 7), chromosome 16, position 23445159—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['COG7_congenital_disorder_of_glycosylation'] | AATTGGAAAAGTGTTTGAAAAATTATAATAGCTATTGTTGGTGAGGGTACAAAGAAAAAAGACAATCTGGTATCATAAATTTAAATTTATACTGTCTTTCTGGAAGGCAATTTAGCAATATGTGCTAAGAGTTTTAAAAATATTCACATCCAGGCTGGGCACAATGGCTTATACCTATAAATCTCAGCATTTTCAGAGGCTGAGGCAGGAGGATTGCATGAGGCCAGGAGTTCAAGACCAGCCTGACCAATATAGCAAGACCTTGTCTTTACAAAACATTTTAAGAAATTGGTCAGGCAGCCGGGAAGGGTGGCTCACGC... | AATTGGAAAAGTGTTTGAAAAATTATAATAGCTATTGTTGGTGAGGGTACAAAGAAAAAAGACAATCTGGTATCATAAATTTAAATTTATACTGTCTTTCTGGAAGGCAATTTAGCAATATGTGCTAAGAGTTTTAAAAATATTCACATCCAGGCTGGGCACAATGGCTTATACCTATAAATCTCAGCATTTTCAGAGGCTGAGGCAGGAGGATTGCATGAGGCCAGGAGTTCAAGACCAGCCTGACCAATATAGCAAGACCTTGTCTTTACAAAACATTTTAAGAAATTGGTCAGGCAGCCGGGAAGGGTGGCTCACGC... | pathogenic | 248,682 |
Variant on chromosome 16, at position 23452807, affecting COG7 (component of oligomeric golgi complex 7): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GAGGTGAAGCTGCAGTGAGCACTGACCACACCACTGCACTGTAGCCTGGGTGACAAAGTGAGACCCTGTCTCAAAAAAAAAAAGAAAGAAAGAAAACAATCTGCAGTGAAATAGAGCCCCCTCCCTACCTTTTCTTAAACAATGGGCACATCTGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATCATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGGGTGGGGCACGCACCTGTAATCCCA... | GAGGTGAAGCTGCAGTGAGCACTGACCACACCACTGCACTGTAGCCTGGGTGACAAAGTGAGACCCTGTCTCAAAAAAAAAAAGAAAGAAAGAAAACAATCTGCAGTGAAATAGAGCCCCCTCCCTACCTTTTCTTAAACAATGGGCACATCTGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATCATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGGGTGGGGCACGCACCTGTAATCCCA... | benign | 248,690 |
Variant at chromosome 16, position 23525318, gene EARS2 (glutamyl-tRNA synthetase 2, mitochondrial): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic | ACTGAAGACCCCAAGAAGCATATCTCATTTCAGAAACCAGCAGAGATGATGACTTATAAGTCATGGAGGAAGGACGAGGTGGATTTGAAGAGAAAGCCACAAAATAGGAAGGGTGAAGGTCTCCAGTCCAAGGACCAGGTCTGGAAGACTGGAAAAACGGAACAGATGACGTTTAGGGAAGGGAGACACAGGCTGCCCCAAGGTTCAAGAATAAAGGGTAGCATAAGACAAGAGTGCTTACCCTTGGCAGTGGAGTCACACTTCTCCTTTTACAACCCCAAAGAAAGTCTGGTGTCCAGTTCAGCCCTGCTTGTGTCACG... | ACTGAAGACCCCAAGAAGCATATCTCATTTCAGAAACCAGCAGAGATGATGACTTATAAGTCATGGAGGAAGGACGAGGTGGATTTGAAGAGAAAGCCACAAAATAGGAAGGGTGAAGGTCTCCAGTCCAAGGACCAGGTCTGGAAGACTGGAAAAACGGAACAGATGACGTTTAGGGAAGGGAGACACAGGCTGCCCCAAGGTTCAAGAATAAAGGGTAGCATAAGACAAGAGTGCTTACCCTTGGCAGTGGAGTCACACTTCTCCTTTTACAACCCCAAAGAAAGTCTGGTGTCCAGTTCAGCCCTGCTTGTGTCACG... | pathogenic | 248,701 |
A genetic variant at chromosome 16, position 23544580, affecting gene EARS2 (glutamyl-tRNA synthetase 2, mitochondrial)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Leukoencephalopathy-thalamus_and_brainstem_anomalies-high_lactate_syndrome'] | TCCTGAACTCTTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGTCCGGCCTGTGGACCTTGCTCATTAAAAATAACAAATAATTAAAATTACTTTACACATTACTTTCTGAGACCAAATCTTGGCTTCTAACATAGCCCCAGTCATTCTCGCCTTCTGGTGTTTCTGTCCTTGTGTAGTCCCCTCCCCTTGAGTGTGGGCTGGGCCTAGTGACTTTTGTCTAATGAACAAAAATAATGCCAAATATGCCTAATCTGAAATGCTCCAATGGTCCAGGTGCAGTGGTTCA... | TCCTGAACTCTTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGTCCGGCCTGTGGACCTTGCTCATTAAAAATAACAAATAATTAAAATTACTTTACACATTACTTTCTGAGACCAAATCTTGGCTTCTAACATAGCCCCAGTCATTCTCGCCTTCTGGTGTTTCTGTCCTTGTGTAGTCCCCTCCCCTTGAGTGTGGGCTGGGCCTAGTGACTTTTGTCTAATGAACAAAAATAATGCCAAATATGCCTAATCTGAAATGCTCCAATGGTCCAGGTGCAGTGGTTCA... | pathogenic | 248,716 |
Considering the genetic mutation at chromosome 16, position 23552231, impacting EARS2 (glutamyl-tRNA synthetase 2, mitochondrial): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Leukoencephalopathy-thalamus_and_brainstem_anomalies-high_lactate_syndrome'] | AGACCCTACCTCTACAAAAACATAAGTTAATAAAATTAGCTGGGCATGGTGGCACACAGCTATGGTGCCAGCTACCCAGGAGGCTAAGGTGAGAGGATCCCTTGAGCTCAGGAATTTGAGATTACAGTGAGCTGTGTTTGAACCACTGCGCTCTAGCCTGGGCAACAGAGCAAGATTTTGTTTGTTAAAAAAAAAAAAAAAGAAATAATTAATCCACTCATCTGTCTTTTCCCTTGGCACTAAGCACATGGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGATGCAA... | AGACCCTACCTCTACAAAAACATAAGTTAATAAAATTAGCTGGGCATGGTGGCACACAGCTATGGTGCCAGCTACCCAGGAGGCTAAGGTGAGAGGATCCCTTGAGCTCAGGAATTTGAGATTACAGTGAGCTGTGTTTGAACCACTGCGCTCTAGCCTGGGCAACAGAGCAAGATTTTGTTTGTTAAAAAAAAAAAAAAAGAAATAATTAATCCACTCATCTGTCTTTTCCCTTGGCACTAAGCACATGGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGATGCAA... | pathogenic | 248,724 |
Variant in gene PALB2 (partner and localizer of BRCA2), located at chromosome 16 position 23603473: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | GAGGTTAAAAATTGTGGGTATAGAATTTGTAAAAGAGGCTGGGTGTGGAGGCTTACACCTGTAATCTTAGCATTTTGGGAGGGGATGCCACAGTGGGTAGATGGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTC... | GAGGTTAAAAATTGTGGGTATAGAATTTGTAAAAGAGGCTGGGTGTGGAGGCTTACACCTGTAATCTTAGCATTTTGGGAGGGGATGCCACAGTGGGTAGATGGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTC... | pathogenic | 248,734 |
Regarding the variant at chromosome 16 and position 23603491, affecting gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | TATAGAATTTGTAAAAGAGGCTGGGTGTGGAGGCTTACACCTGTAATCTTAGCATTTTGGGAGGGGATGCCACAGTGGGTAGATGGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGAC... | TATAGAATTTGTAAAAGAGGCTGGGTGTGGAGGCTTACACCTGTAATCTTAGCATTTTGGGAGGGGATGCCACAGTGGGTAGATGGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGAC... | pathogenic | 248,737 |
The chromosome 16, position 23603536 genetic variant in gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_carcinoma'] | ATCTTAGCATTTTGGGAGGGGATGCCACAGTGGGTAGATGGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATG... | ATCTTAGCATTTTGGGAGGGGATGCCACAGTGGGTAGATGGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATG... | pathogenic | 248,750 |
Considering the variant on chromosome 16, location 23603554, involving gene PALB2 (partner and localizer of BRCA2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGGATGCCACAGTGGGTAGATGGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATG... | GGGATGCCACAGTGGGTAGATGGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATG... | pathogenic | 248,756 |
Variant on chromosome 16, at position 23603563, affecting PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'PALB2-related_cancer_predisposition', 'PALB2-related_disorder'] | CAGTGGGTAGATGGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATG... | CAGTGGGTAGATGGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATG... | pathogenic | 248,758 |
The genetic variant at chromosome 16, position 23603564, affecting gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGTGGGTAGATGGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGT... | AGTGGGTAGATGGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGT... | pathogenic | 248,759 |
A genetic variant on chromosome 16, position 23603587, affects the gene PALB2 (partner and localizer of BRCA2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGTATCTTTTTTTGTGTGTGTGATCC... | GGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGTATCTTTTTTTGTGTGTGTGATCC... | pathogenic | 248,769 |
Regarding the variant found on chromosome 16 at position 23603590 in gene PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTTCGAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGTATCTTTTTTTGTGTGTGTGATCCACC... | GTTCGAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGTATCTTTTTTTGTGTGTGTGATCCACC... | pathogenic | 248,773 |
Is the genetic change at chromosome 16, position 23603593, within gene PALB2 (partner and localizer of BRCA2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CGAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGTATCTTTTTTTGTGTGTGTGATCCACCCAC... | CGAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGTATCTTTTTTTGTGTGTGTGATCCACCCAC... | pathogenic | 248,774 |
The genetic variant at chromosome 16, position 23603594, affecting gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGTATCTTTTTTTGTGTGTGTGATCCACCCACC... | GAGACCAGCCTGGGCAACATGGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGTATCTTTTTTTGTGTGTGTGATCCACCCACC... | pathogenic | 248,775 |
Variant in PALB2 (partner and localizer of BRCA2), chromosome 16, position 23603614—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGTATCTTTTTTTGTGTGTGTGATCCACCCACCTCTTATGATCCACCCGCCTC... | GGTGAGACTCTGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGTATCTTTTTTTGTGTGTGTGATCCACCCACCTCTTATGATCCACCCGCCTC... | pathogenic | 248,781 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome 16, position 23603624—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGTATCTTTTTTTGTGTGTGTGATCCACCCACCTCTTATGATCCACCCGCCTCAGCTTCCCAA... | TGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGTATCTTTTTTTGTGTGTGTGATCCACCCACCTCTTATGATCCACCCGCCTCAGCTTCCCAA... | pathogenic | 248,782 |
Does the variant impacting PALB2 (partner and localizer of BRCA2) on chromosome 16, position 23603624, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGTATCTTTTTTTGTGTGTGTGATCCACCCACCTCTTATGATCCACCCGCCTCAGCTTCCCAA... | TGTCTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGTATCTTTTTTTGTGTGTGTGATCCACCCACCTCTTATGATCCACCCGCCTCAGCTTCCCAA... | pathogenic | 248,783 |
Variant chromosome 16, position 23603627, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGTATCTTTTTTTGTGTGTGTGATCCACCCACCTCTTATGATCCACCCGCCTCAGCTTCCCAAAGT... | CTCACAAAAAATTTTTTTTTAATTAGCTGGATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGTATCTTTTTTTGTGTGTGTGATCCACCCACCTCTTATGATCCACCCGCCTCAGCTTCCCAAAGT... | pathogenic | 248,785 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome 16, position 23603657—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | ATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGTATCTTTTTTTGTGTGTGTGATCCACCCACCTCTTATGATCCACCCGCCTCAGCTTCCCAAAGTGCTGGGATTATAGCACTGCACCTGGCCAAA... | ATATGGTAGCCCATACCTTAGTCCTAGCTACTGGGGAGGCTGAGGTTGGAGGATCGCCTGAGTGTGGGGAAGTTGAGACTGCAGTGAGCTGTGATACCACTGTACTCCAGCCTGTGCAACAGAGTGAGACTGTCTCAAAGAAAATATAATAGACATCCTTTGAAAAAGAAAATTAAAAAAATACCAGAATTTGTAAATGAGCAAAAACTACAGTATGATAAAAATGTATCTTTTTTTGTGTGTGTGATCCACCCACCTCTTATGATCCACCCGCCTCAGCTTCCCAAAGTGCTGGGATTATAGCACTGCACCTGGCCAAA... | pathogenic | 248,789 |
Mutation at chromosome 16, position 23607865, within PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast'] | GTGATTGGTGGTTTTGTAAAACAGGCCCCAGAAAGCTGCCTTCTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCT... | GTGATTGGTGGTTTTGTAAAACAGGCCCCAGAAAGCTGCCTTCTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCT... | pathogenic | 248,813 |
A genetic alteration at chromosome 16, position 23607881, in gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAAAACAGGCCCCAGAAAGCTGCCTTCTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCA... | TAAAACAGGCCCCAGAAAGCTGCCTTCTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCA... | pathogenic | 248,817 |
A genetic alteration at chromosome 16, position 23607886, in gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast'] | CAGGCCCCAGAAAGCTGCCTTCTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGAC... | CAGGCCCCAGAAAGCTGCCTTCTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGAC... | pathogenic | 248,818 |
Variant on chromosome 16, at position 23607890, affecting PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', 'Pancreatic_cancer,_susceptibility_to,_3'] | CCCCAGAAAGCTGCCTTCTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATC... | CCCCAGAAAGCTGCCTTCTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATC... | pathogenic | 248,823 |
The mutation in gene PALB2 (partner and localizer of BRCA2) at chromosome 16, position 23607902—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GCCTTCTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCA... | GCCTTCTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCA... | pathogenic | 248,824 |
Located at chromosome 16 position 23607904, the variant affecting gene PALB2 (partner and localizer of BRCA2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTTCTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAA... | CTTCTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAA... | pathogenic | 248,825 |
Is the chromosome 16, position 23607906 variant in PALB2 (partner and localizer of BRCA2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATC... | TCTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATC... | pathogenic | 248,826 |
For chromosome 16, position 23607907, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast'] | CTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCC... | CTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCC... | pathogenic | 248,827 |
Is chromosome 16, position 23607907, gene PALB2 (partner and localizer of BRCA2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCC... | CTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCC... | pathogenic | 248,828 |
Does the variant impacting PALB2 (partner and localizer of BRCA2) on chromosome 16, position 23607910, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAG... | CCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAG... | pathogenic | 248,830 |
Clinical significance of chromosome 16, position 23607912, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGA... | ATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGA... | pathogenic | 248,831 |
Considering the variant on chromosome 16, location 23607914, involving gene PALB2 (partner and localizer of BRCA2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast'] | GTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAG... | GTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAG... | pathogenic | 248,835 |
Does the variant on chromosome 16 at location 23607916 affecting gene PALB2 (partner and localizer of BRCA2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast'] | GAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCA... | GAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCA... | pathogenic | 248,836 |
A mutation at chromosome position 23607917 on chromosome 16 in gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_cancer_of_breast'] | AGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAA... | AGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAA... | pathogenic | 248,839 |
Is the chromosome 16, position 23607925 variant in PALB2 (partner and localizer of BRCA2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATA... | TCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATA... | pathogenic | 248,840 |
Does the chromosome 16 mutation at position 23607945 within gene PALB2 (partner and localizer of BRCA2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGAT... | CTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGAT... | pathogenic | 248,847 |
Classify the chromosome 16 variant at position 23607957 affecting gene PALB2 (partner and localizer of BRCA2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGATGATAGTTCTGAG... | AGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGATGATAGTTCTGAG... | pathogenic | 248,848 |
Classify the chromosome 16 variant at position 23607961 affecting gene PALB2 (partner and localizer of BRCA2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGATGATAGTTCTGAGGTTC... | AATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGATGATAGTTCTGAGGTTC... | pathogenic | 248,851 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome position 23607966 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast'] | GCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGATGATAGTTCTGAGGTTCTTAGG... | GCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGATGATAGTTCTGAGGTTCTTAGG... | pathogenic | 248,856 |
Classify the chromosome 16 variant at position 23607966 affecting gene PALB2 (partner and localizer of BRCA2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGATGATAGTTCTGAGGTTCTTAGG... | GCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGATGATAGTTCTGAGGTTCTTAGG... | pathogenic | 248,857 |
Evaluate the clinical significance of the mutation at chromosome 16, position 23607968 in gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'PALB2-related_disorder'] | CAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGATGATAGTTCTGAGGTTCTTAGGTT... | CAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGATGATAGTTCTGAGGTTCTTAGGTT... | pathogenic | 248,858 |
Determine if the mutation at chromosome 16, position 23607969 in gene PALB2 (partner and localizer of BRCA2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGATGATAGTTCTGAGGTTCTTAGGTTC... | AGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGATGATAGTTCTGAGGTTCTTAGGTTC... | pathogenic | 248,859 |
Mutation found at chromosome 16 position 23607973, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGATGATAGTTCTGAGGTTCTTAGGTTCTTAA... | CCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGATGATAGTTCTGAGGTTCTTAGGTTCTTAA... | pathogenic | 248,860 |
Considering the genetic mutation at chromosome 16, position 23607985, impacting PALB2 (partner and localizer of BRCA2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGATGATAGTTCTGAGGTTCTTAGGTTCTTAAAAAAAAAAAAAA... | ACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGATGATAGTTCTGAGGTTCTTAGGTTCTTAAAAAAAAAAAAAA... | pathogenic | 248,864 |
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