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 |
|---|---|---|---|---|---|
The genetic variant at chromosome 8, position 86576051, affecting gene CNGB3 (cyclic nucleotide gated channel subunit beta 3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Achromatopsia_3'] | AAAAGAAAGGATAATTAGAAAGATTTAAAAAGAAAAAGAATTTGGTGGCACCAAATCAACAATAAAAGAGTTCTTGAATTTTCTTAGATTTTAGTCTGATGGATTGGAAATAAATTGATATTATCTGAAACAGGATAGCTTGGGGGGGAAAATAACTGCCAGGCGAAAAGCATAAATTGCAATGGTCTTGTATTTTAATATCATTTGAATAAATTACAGGGTGTAAAGGGAAAGCATATTGCTCACAAGTTGAGGACTTTTGTCCTTTTCTTTTCCTATTATCAGATGCTTCAGCCCTATTCTACCTTTTGTTTCTGGGT... | AAAAGAAAGGATAATTAGAAAGATTTAAAAAGAAAAAGAATTTGGTGGCACCAAATCAACAATAAAAGAGTTCTTGAATTTTCTTAGATTTTAGTCTGATGGATTGGAAATAAATTGATATTATCTGAAACAGGATAGCTTGGGGGGGAAAATAACTGCCAGGCGAAAAGCATAAATTGCAATGGTCTTGTATTTTAATATCATTTGAATAAATTACAGGGTGTAAAGGGAAAGCATATTGCTCACAAGTTGAGGACTTTTGTCCTTTTCTTTTCCTATTATCAGATGCTTCAGCCCTATTCTACCTTTTGTTTCTGGGT... | pathogenic | 136,556 |
Variant in gene CNGB3 (cyclic nucleotide gated channel subunit beta 3), located at chromosome 8 position 86576128: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Achromatopsia_3'] | ATTTTCTTAGATTTTAGTCTGATGGATTGGAAATAAATTGATATTATCTGAAACAGGATAGCTTGGGGGGGAAAATAACTGCCAGGCGAAAAGCATAAATTGCAATGGTCTTGTATTTTAATATCATTTGAATAAATTACAGGGTGTAAAGGGAAAGCATATTGCTCACAAGTTGAGGACTTTTGTCCTTTTCTTTTCCTATTATCAGATGCTTCAGCCCTATTCTACCTTTTGTTTCTGGGTTTTTAAATCACCCTTTTTATACGCAATTCACTCTTTCTGCATACAAACTCCCATTTATCAAATAAATACTATTTAAC... | ATTTTCTTAGATTTTAGTCTGATGGATTGGAAATAAATTGATATTATCTGAAACAGGATAGCTTGGGGGGGAAAATAACTGCCAGGCGAAAAGCATAAATTGCAATGGTCTTGTATTTTAATATCATTTGAATAAATTACAGGGTGTAAAGGGAAAGCATATTGCTCACAAGTTGAGGACTTTTGTCCTTTTCTTTTCCTATTATCAGATGCTTCAGCCCTATTCTACCTTTTGTTTCTGGGTTTTTAAATCACCCTTTTTATACGCAATTCACTCTTTCTGCATACAAACTCCCATTTATCAAATAAATACTATTTAAC... | pathogenic | 136,557 |
Considering the variant on chromosome 8, location 86578706, involving gene CNGB3 (cyclic nucleotide gated channel subunit beta 3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Achromatopsia_3'] | TCGTGTTTAGCACTAGCTATAGAAATTTCATAGCAAAAGGTACACTATGCTCTTTACTGGTAATGCTTGGGATCAATTTGAGAAAGGCTTGCCTGACATATGAATGTGCACAGATAAAGTTGAGATTCTTAACACATTTACTTATATATTTCTTTACTCCCATACATTTTTTATGCAAATTATTATTTCTATGCTGATGCAAATGAAGCATTTGGTTTATACTGGATCCCTAACTTTCACCACAGTGTTGTATGTGTGGAAAAGGAAAATGCAAGTTTTCATCTTTTGTATGTGACTGACTTTATAATATGTGCTTTACT... | TCGTGTTTAGCACTAGCTATAGAAATTTCATAGCAAAAGGTACACTATGCTCTTTACTGGTAATGCTTGGGATCAATTTGAGAAAGGCTTGCCTGACATATGAATGTGCACAGATAAAGTTGAGATTCTTAACACATTTACTTATATATTTCTTTACTCCCATACATTTTTTATGCAAATTATTATTTCTATGCTGATGCAAATGAAGCATTTGGTTTATACTGGATCCCTAACTTTCACCACAGTGTTGTATGTGTGGAAAAGGAAAATGCAAGTTTTCATCTTTTGTATGTGACTGACTTTATAATATGTGCTTTACT... | pathogenic | 136,561 |
Does the variant on chromosome 8 at location 86578854 affecting gene CNGB3 (cyclic nucleotide gated channel subunit beta 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Achromatopsia_3'] | TTTCTTTACTCCCATACATTTTTTATGCAAATTATTATTTCTATGCTGATGCAAATGAAGCATTTGGTTTATACTGGATCCCTAACTTTCACCACAGTGTTGTATGTGTGGAAAAGGAAAATGCAAGTTTTCATCTTTTGTATGTGACTGACTTTATAATATGTGCTTTACTTATTTTCTGAAAGGTCCACAGCTACCCATTTCTACAGTTTTAGAGATAACATAATGACTAGGTTCAGAAAACCTGAATCCCTGCTCTGTCTGTTTCTCAATATCTGCCCTCATAGGCTAATTATGAGAATCAAAGAAATATGAAACCA... | TTTCTTTACTCCCATACATTTTTTATGCAAATTATTATTTCTATGCTGATGCAAATGAAGCATTTGGTTTATACTGGATCCCTAACTTTCACCACAGTGTTGTATGTGTGGAAAAGGAAAATGCAAGTTTTCATCTTTTGTATGTGACTGACTTTATAATATGTGCTTTACTTATTTTCTGAAAGGTCCACAGCTACCCATTTCTACAGTTTTAGAGATAACATAATGACTAGGTTCAGAAAACCTGAATCCCTGCTCTGTCTGTTTCTCAATATCTGCCCTCATAGGCTAATTATGAGAATCAAAGAAATATGAAACCA... | pathogenic | 136,564 |
Does the genetic variant at chromosome 8, position 86579125, impacting gene CNGB3 (cyclic nucleotide gated channel subunit beta 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Achromatopsia_3'] | ATATCTGCCCTCATAGGCTAATTATGAGAATCAAAGAAATATGAAACCAAAAAAAAAGAGAGAGAGAGAGAGAAACAATAACATTTGAGTTTCTTTACATTTTTAGGAATTGAAAGGCAGCTTAGTGTAGGCCTGTAAGTCTGAACACCTGAGTAATAGCTTTCTGCTCTGTAACTAATTATGATCTTATCCAAATCCCTTGATCTGGTTTTCAGTTTCTTCATCTATAACATGAAAAGCTTGGATGAAATTTACAAAGTTATTTTGGGCTTTAAACATTTGTGATCTATAGTAATTGAATATTTGTGAAAATGTTGATA... | ATATCTGCCCTCATAGGCTAATTATGAGAATCAAAGAAATATGAAACCAAAAAAAAAGAGAGAGAGAGAGAGAAACAATAACATTTGAGTTTCTTTACATTTTTAGGAATTGAAAGGCAGCTTAGTGTAGGCCTGTAAGTCTGAACACCTGAGTAATAGCTTTCTGCTCTGTAACTAATTATGATCTTATCCAAATCCCTTGATCTGGTTTTCAGTTTCTTCATCTATAACATGAAAAGCTTGGATGAAATTTACAAAGTTATTTTGGGCTTTAAACATTTGTGATCTATAGTAATTGAATATTTGTGAAAATGTTGATA... | pathogenic | 136,568 |
Clinically, how would you classify the variant at chromosome 8, position 86604091, gene CNGB3 (cyclic nucleotide gated channel subunit beta 3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Achromatopsia', 'Achromatopsia_3'] | TCTTCAGGGAGTACTCAACCCTTGGGAAAGGTCAGCTAATTAATTTCTGCAGTGTTTCAGATTAAACTGTTGCATGTTTTATGACCTTGAAGATTACAGTGATTATTAAGTCACAAAATATTAAATCACTTTTGCAAGGACTCCCAGGAAGGAAATGATAGAAAACAGGCAAAGAACTCAGGTCTCGTATGTTCTGAGAAGTGTTTCCACCACTGCCCAAGAGCAAGATCCTCAGAGGATCACCTTAACAAATAATCAGTCGTTAAACAAGGAGAAAAAAATTAAAAAGAGAAGCCACATTAACAACAGAGAAATAACAT... | TCTTCAGGGAGTACTCAACCCTTGGGAAAGGTCAGCTAATTAATTTCTGCAGTGTTTCAGATTAAACTGTTGCATGTTTTATGACCTTGAAGATTACAGTGATTATTAAGTCACAAAATATTAAATCACTTTTGCAAGGACTCCCAGGAAGGAAATGATAGAAAACAGGCAAAGAACTCAGGTCTCGTATGTTCTGAGAAGTGTTTCCACCACTGCCCAAGAGCAAGATCCTCAGAGGATCACCTTAACAAATAATCAGTCGTTAAACAAGGAGAAAAAAATTAAAAAGAGAAGCCACATTAACAACAGAGAAATAACAT... | pathogenic | 136,572 |
Variant at chromosome position 86604099, chromosome 8, gene CNGB3 (cyclic nucleotide gated channel subunit beta 3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Achromatopsia_3'] | GAGTACTCAACCCTTGGGAAAGGTCAGCTAATTAATTTCTGCAGTGTTTCAGATTAAACTGTTGCATGTTTTATGACCTTGAAGATTACAGTGATTATTAAGTCACAAAATATTAAATCACTTTTGCAAGGACTCCCAGGAAGGAAATGATAGAAAACAGGCAAAGAACTCAGGTCTCGTATGTTCTGAGAAGTGTTTCCACCACTGCCCAAGAGCAAGATCCTCAGAGGATCACCTTAACAAATAATCAGTCGTTAAACAAGGAGAAAAAAATTAAAAAGAGAAGCCACATTAACAACAGAGAAATAACATGTTTCAAC... | GAGTACTCAACCCTTGGGAAAGGTCAGCTAATTAATTTCTGCAGTGTTTCAGATTAAACTGTTGCATGTTTTATGACCTTGAAGATTACAGTGATTATTAAGTCACAAAATATTAAATCACTTTTGCAAGGACTCCCAGGAAGGAAATGATAGAAAACAGGCAAAGAACTCAGGTCTCGTATGTTCTGAGAAGTGTTTCCACCACTGCCCAAGAGCAAGATCCTCAGAGGATCACCTTAACAAATAATCAGTCGTTAAACAAGGAGAAAAAAATTAAAAAGAGAAGCCACATTAACAACAGAGAAATAACATGTTTCAAC... | pathogenic | 136,574 |
Is the genetic change at chromosome 8, position 86625985, within gene CNGB3 (cyclic nucleotide gated channel subunit beta 3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy'] | CTGGGTCTGTTCACCATCATCTCTTCCACAGATGGTTGTGATAACTTCCATTTGGCCTCCCTGCCTTCTACATTTACTTCCTAAGGCCTTTTCTTCACACAGCAGGAAAGATCCTGTTCAAACTGGTCTTGAATAGGTCATTTTCTGCTCAAGAGCCTCAGTGTCTTTGCAACTCAGAGTATAATTTACAGTCTATAGATGACTGGGCGCAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGGGGGCAGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACT... | CTGGGTCTGTTCACCATCATCTCTTCCACAGATGGTTGTGATAACTTCCATTTGGCCTCCCTGCCTTCTACATTTACTTCCTAAGGCCTTTTCTTCACACAGCAGGAAAGATCCTGTTCAAACTGGTCTTGAATAGGTCATTTTCTGCTCAAGAGCCTCAGTGTCTTTGCAACTCAGAGTATAATTTACAGTCTATAGATGACTGGGCGCAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGGGGGCAGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACT... | pathogenic | 136,586 |
Variant in CNGB3 (cyclic nucleotide gated channel subunit beta 3), chromosome 8, position 86626044—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Achromatopsia_3'] | CCTGCCTTCTACATTTACTTCCTAAGGCCTTTTCTTCACACAGCAGGAAAGATCCTGTTCAAACTGGTCTTGAATAGGTCATTTTCTGCTCAAGAGCCTCAGTGTCTTTGCAACTCAGAGTATAATTTACAGTCTATAGATGACTGGGCGCAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGGGGGCAGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGA... | CCTGCCTTCTACATTTACTTCCTAAGGCCTTTTCTTCACACAGCAGGAAAGATCCTGTTCAAACTGGTCTTGAATAGGTCATTTTCTGCTCAAGAGCCTCAGTGTCTTTGCAACTCAGAGTATAATTTACAGTCTATAGATGACTGGGCGCAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGGGGGCAGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGA... | pathogenic | 136,587 |
Gene CNGB3 (cyclic nucleotide gated channel subunit beta 3) variant at chromosome 8, position 86626067—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Achromatopsia_3'] | AAGGCCTTTTCTTCACACAGCAGGAAAGATCCTGTTCAAACTGGTCTTGAATAGGTCATTTTCTGCTCAAGAGCCTCAGTGTCTTTGCAACTCAGAGTATAATTTACAGTCTATAGATGACTGGGCGCAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGGGGGCAGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTG... | AAGGCCTTTTCTTCACACAGCAGGAAAGATCCTGTTCAAACTGGTCTTGAATAGGTCATTTTCTGCTCAAGAGCCTCAGTGTCTTTGCAACTCAGAGTATAATTTACAGTCTATAGATGACTGGGCGCAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGGGGGCAGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTG... | pathogenic | 136,588 |
Regarding the variant found on chromosome 8 at position 86629032 in gene CNGB3 (cyclic nucleotide gated channel subunit beta 3): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Achromatopsia_3'] | CCTGATCCTGTCCCTCTACCCACCCTCCACCCTCCAGTAGGCCAAGGGTCACGTTTGTTCCCCTCCAGAAAATTCCCTATTCTTAATGGTTAGAATTCCAAGAGTTTCTGAGAGTTGATTTTTTTTTAATGTTTTCTTATATTATTTAGAAAAGAGAGAAATTGCTGTATTACATCCCTATTTTGATTCAAATATAGATTCTAAATATGAAAATCCTTCATATATAAACACAGTTTATTGTTTCCGAGGGCTGTCTCTAGTTACCTCCTAAGCCAAGGAGTTGAATCATTATCTGCCTTCGCTAAGGGGTGCGAGGCAAG... | CCTGATCCTGTCCCTCTACCCACCCTCCACCCTCCAGTAGGCCAAGGGTCACGTTTGTTCCCCTCCAGAAAATTCCCTATTCTTAATGGTTAGAATTCCAAGAGTTTCTGAGAGTTGATTTTTTTTTAATGTTTTCTTATATTATTTAGAAAAGAGAGAAATTGCTGTATTACATCCCTATTTTGATTCAAATATAGATTCTAAATATGAAAATCCTTCATATATAAACACAGTTTATTGTTTCCGAGGGCTGTCTCTAGTTACCTCCTAAGCCAAGGAGTTGAATCATTATCTGCCTTCGCTAAGGGGTGCGAGGCAAG... | pathogenic | 136,596 |
Regarding the variant at chromosome 8 and position 86632786, affecting gene CNGB3 (cyclic nucleotide gated channel subunit beta 3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Abnormality_of_the_eye', 'Achromatopsia_3', 'Retinal_dystrophy'] | ATGGCACGCACCTGTAGTCCCAGCTACCTGGGAAGCTGAGGTGAGAGGATTGCTTGAACCCAGGAGTTTGAGGCTACAGTGAGCTATGATTAAGCCACTACACCCTAGCCTGGGCACAGAGCCAGACCCTGTCTCTTAATAAAAAAAGAGTGATGATTAGTTCCATCGTATAGTCTCTATGTGGGAATTTTGAGTGAGTGGAGGGTTTTTTTCTGTCCCAGGCTTTTAAACTTTTATTTCTATCTGTTCCCCTGCTCAGCATCTTTTATTCACTATGAGAGTTTGAGGCACATATCTGTATCTCTAGCCTCAATCTTTCT... | ATGGCACGCACCTGTAGTCCCAGCTACCTGGGAAGCTGAGGTGAGAGGATTGCTTGAACCCAGGAGTTTGAGGCTACAGTGAGCTATGATTAAGCCACTACACCCTAGCCTGGGCACAGAGCCAGACCCTGTCTCTTAATAAAAAAAGAGTGATGATTAGTTCCATCGTATAGTCTCTATGTGGGAATTTTGAGTGAGTGGAGGGTTTTTTTCTGTCCCAGGCTTTTAAACTTTTATTTCTATCTGTTCCCCTGCTCAGCATCTTTTATTCACTATGAGAGTTTGAGGCACATATCTGTATCTCTAGCCTCAATCTTTCT... | pathogenic | 136,601 |
Considering the genetic mutation at chromosome 8, position 86632811, impacting CNGB3 (cyclic nucleotide gated channel subunit beta 3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Achromatopsia_3'] | ACCTGGGAAGCTGAGGTGAGAGGATTGCTTGAACCCAGGAGTTTGAGGCTACAGTGAGCTATGATTAAGCCACTACACCCTAGCCTGGGCACAGAGCCAGACCCTGTCTCTTAATAAAAAAAGAGTGATGATTAGTTCCATCGTATAGTCTCTATGTGGGAATTTTGAGTGAGTGGAGGGTTTTTTTCTGTCCCAGGCTTTTAAACTTTTATTTCTATCTGTTCCCCTGCTCAGCATCTTTTATTCACTATGAGAGTTTGAGGCACATATCTGTATCTCTAGCCTCAATCTTTCTCTTGTGGTCTACTACCACATTTTCA... | ACCTGGGAAGCTGAGGTGAGAGGATTGCTTGAACCCAGGAGTTTGAGGCTACAGTGAGCTATGATTAAGCCACTACACCCTAGCCTGGGCACAGAGCCAGACCCTGTCTCTTAATAAAAAAAGAGTGATGATTAGTTCCATCGTATAGTCTCTATGTGGGAATTTTGAGTGAGTGGAGGGTTTTTTTCTGTCCCAGGCTTTTAAACTTTTATTTCTATCTGTTCCCCTGCTCAGCATCTTTTATTCACTATGAGAGTTTGAGGCACATATCTGTATCTCTAGCCTCAATCTTTCTCTTGTGGTCTACTACCACATTTTCA... | pathogenic | 136,602 |
Variant chromosome 8, position 86643761, gene CNGB3 (cyclic nucleotide gated channel subunit beta 3): benign or pathogenic? Disease(s)? | pathogenic; ['Achromatopsia_3'] | TTGTACTCCAGGTTTGGTACATATGTTTGTGTTTTAGCCTTTGGAGATACTTCTTACTTTCTAGGGAACTCAGCAATCACTGAAAACTGTTGTAATTGTATTCATTTAGAAACTTATAACAAATAATTATAATAAGTAACTTAACAAAATTACAACAGGTAATTTATCTTGCATTTTAGAGAGAGTATCTTGGCTACCTGGGCTATGATGTAGCTGGAATTAGAAATCCAAAACACTAGCACACTTGAAGTTTCTTATGGGCTAAAGCTGAGATTTCTTTCTTCTTGTTACAATGCAGATTTGGCCATTCCTTTCGTTTT... | TTGTACTCCAGGTTTGGTACATATGTTTGTGTTTTAGCCTTTGGAGATACTTCTTACTTTCTAGGGAACTCAGCAATCACTGAAAACTGTTGTAATTGTATTCATTTAGAAACTTATAACAAATAATTATAATAAGTAACTTAACAAAATTACAACAGGTAATTTATCTTGCATTTTAGAGAGAGTATCTTGGCTACCTGGGCTATGATGTAGCTGGAATTAGAAATCCAAAACACTAGCACACTTGAAGTTTCTTATGGGCTAAAGCTGAGATTTCTTTCTTCTTGTTACAATGCAGATTTGGCCATTCCTTTCGTTTT... | pathogenic | 136,609 |
Is the genetic mutation found on chromosome 8 at position 86643780, within the gene CNGB3 (cyclic nucleotide gated channel subunit beta 3), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Abnormality_of_the_eye', 'Achromatopsia', 'Achromatopsia_3', 'CNGB3-related_disorder', 'Cone-rod_dystrophy', 'Inborn_genetic_diseases', 'Leber_congenital_amaurosis', 'Optic_atrophy', 'Retinal_dystrophy', 'Retinitis_pigmentosa'] | CATATGTTTGTGTTTTAGCCTTTGGAGATACTTCTTACTTTCTAGGGAACTCAGCAATCACTGAAAACTGTTGTAATTGTATTCATTTAGAAACTTATAACAAATAATTATAATAAGTAACTTAACAAAATTACAACAGGTAATTTATCTTGCATTTTAGAGAGAGTATCTTGGCTACCTGGGCTATGATGTAGCTGGAATTAGAAATCCAAAACACTAGCACACTTGAAGTTTCTTATGGGCTAAAGCTGAGATTTCTTTCTTCTTGTTACAATGCAGATTTGGCCATTCCTTTCGTTTTTCCTTACTCCCCCTCTCTC... | CATATGTTTGTGTTTTAGCCTTTGGAGATACTTCTTACTTTCTAGGGAACTCAGCAATCACTGAAAACTGTTGTAATTGTATTCATTTAGAAACTTATAACAAATAATTATAATAAGTAACTTAACAAAATTACAACAGGTAATTTATCTTGCATTTTAGAGAGAGTATCTTGGCTACCTGGGCTATGATGTAGCTGGAATTAGAAATCCAAAACACTAGCACACTTGAAGTTTCTTATGGGCTAAAGCTGAGATTTCTTTCTTCTTGTTACAATGCAGATTTGGCCATTCCTTTCGTTTTTCCTTACTCCCCCTCTCTC... | pathogenic | 136,610 |
Is the variant located on chromosome 8 at position 86643827, gene CNGB3 (cyclic nucleotide gated channel subunit beta 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Achromatopsia_3'] | AACTCAGCAATCACTGAAAACTGTTGTAATTGTATTCATTTAGAAACTTATAACAAATAATTATAATAAGTAACTTAACAAAATTACAACAGGTAATTTATCTTGCATTTTAGAGAGAGTATCTTGGCTACCTGGGCTATGATGTAGCTGGAATTAGAAATCCAAAACACTAGCACACTTGAAGTTTCTTATGGGCTAAAGCTGAGATTTCTTTCTTCTTGTTACAATGCAGATTTGGCCATTCCTTTCGTTTTTCCTTACTCCCCCTCTCTCTTCCTGCTTTTATATACCTATATATTGTCTATTATTATATACTTAAC... | AACTCAGCAATCACTGAAAACTGTTGTAATTGTATTCATTTAGAAACTTATAACAAATAATTATAATAAGTAACTTAACAAAATTACAACAGGTAATTTATCTTGCATTTTAGAGAGAGTATCTTGGCTACCTGGGCTATGATGTAGCTGGAATTAGAAATCCAAAACACTAGCACACTTGAAGTTTCTTATGGGCTAAAGCTGAGATTTCTTTCTTCTTGTTACAATGCAGATTTGGCCATTCCTTTCGTTTTTCCTTACTCCCCCTCTCTCTTCCTGCTTTTATATACCTATATATTGTCTATTATTATATACTTAAC... | pathogenic | 136,612 |
Variant in gene CNGB3 (cyclic nucleotide gated channel subunit beta 3), located at chromosome 8 position 86644671: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Achromatopsia_3'] | TTTTCCAGTTTGGACATTGCCTTATTATATGTTCAATGTCATTTCACTGGAGCAGAAAGTTAGTGAAGTCAACTTTATGCCAGGTCTTTGTATTTTACCAAAAGGAAATTTCACTATTAAATAACCCAGTTGCCATTTCTGAGTCCTGATTCTACTGTTCTAAATTTTTCAAGTGATCTTTTTTTATTTCTGGGACACTTGCATACCTAATTGTCAAGTTTAATTTATGATCCTCGTTACTCTCTAAGTGTTTAATTGAGTTAGTGGTTATAGCTGACTCATAAACCCATAAAACCCTTCACTGGTAAACTAATTAGCCA... | TTTTCCAGTTTGGACATTGCCTTATTATATGTTCAATGTCATTTCACTGGAGCAGAAAGTTAGTGAAGTCAACTTTATGCCAGGTCTTTGTATTTTACCAAAAGGAAATTTCACTATTAAATAACCCAGTTGCCATTTCTGAGTCCTGATTCTACTGTTCTAAATTTTTCAAGTGATCTTTTTTTATTTCTGGGACACTTGCATACCTAATTGTCAAGTTTAATTTATGATCCTCGTTACTCTCTAAGTGTTTAATTGAGTTAGTGGTTATAGCTGACTCATAAACCCATAAAACCCTTCACTGGTAAACTAATTAGCCA... | pathogenic | 136,616 |
Gene mutation in CNGB3 (cyclic nucleotide gated channel subunit beta 3) at chromosome 8, position 86654019—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Achromatopsia_3', 'CNGB3-related_disorder', 'Retinal_dystrophy'] | CTAGATGTATTGCCTACTACACACGTAGGTGGTATGGTATAGACATACAAGCCTAGGCTTCTAGGCTACAGGCCTAGGAGCATGTTACTGTACAGCATGCTCTGTATATTACAGTATATTATTGTATGTTACTGTACAGCATGTTACTGTACTGAGTACTGTAGGGAATTGTAACACAATGGTAAATATCTTTGCATCTAAACACATCTAAACATTGAAAAGGTACAGTTAAAAATATGATACGAAAGATAAAAAATGGTACACCTGTATAGGATACTTACCATGAATGGAGCTTGCAGGACTGGAACTTGCTCTGGGTG... | CTAGATGTATTGCCTACTACACACGTAGGTGGTATGGTATAGACATACAAGCCTAGGCTTCTAGGCTACAGGCCTAGGAGCATGTTACTGTACAGCATGCTCTGTATATTACAGTATATTATTGTATGTTACTGTACAGCATGTTACTGTACTGAGTACTGTAGGGAATTGTAACACAATGGTAAATATCTTTGCATCTAAACACATCTAAACATTGAAAAGGTACAGTTAAAAATATGATACGAAAGATAAAAAATGGTACACCTGTATAGGATACTTACCATGAATGGAGCTTGCAGGACTGGAACTTGCTCTGGGTG... | pathogenic | 136,620 |
Does the variant on chromosome 8 at location 86654024 affecting gene CNGB3 (cyclic nucleotide gated channel subunit beta 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Achromatopsia_3'] | TGTATTGCCTACTACACACGTAGGTGGTATGGTATAGACATACAAGCCTAGGCTTCTAGGCTACAGGCCTAGGAGCATGTTACTGTACAGCATGCTCTGTATATTACAGTATATTATTGTATGTTACTGTACAGCATGTTACTGTACTGAGTACTGTAGGGAATTGTAACACAATGGTAAATATCTTTGCATCTAAACACATCTAAACATTGAAAAGGTACAGTTAAAAATATGATACGAAAGATAAAAAATGGTACACCTGTATAGGATACTTACCATGAATGGAGCTTGCAGGACTGGAACTTGCTCTGGGTGAGTCA... | TGTATTGCCTACTACACACGTAGGTGGTATGGTATAGACATACAAGCCTAGGCTTCTAGGCTACAGGCCTAGGAGCATGTTACTGTACAGCATGCTCTGTATATTACAGTATATTATTGTATGTTACTGTACAGCATGTTACTGTACTGAGTACTGTAGGGAATTGTAACACAATGGTAAATATCTTTGCATCTAAACACATCTAAACATTGAAAAGGTACAGTTAAAAATATGATACGAAAGATAAAAAATGGTACACCTGTATAGGATACTTACCATGAATGGAGCTTGCAGGACTGGAACTTGCTCTGGGTGAGTCA... | pathogenic | 136,622 |
Chromosome 8, position 86666937, gene CNGB3 (cyclic nucleotide gated channel subunit beta 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Achromatopsia_3'] | CATTGCTCTTTCATTCTCTTACCACACTGAATAATAGTATATTTTGCAATGGTGGAAATCTTCTGTGCTGTCCACCAGACACATGGTTGTTGAGTTCTGAGAATATGAACAATGTGGCTGAGAAACCTGAATGTTTAATGGTATTTAATTGTAACTAATTCAAATTTAAATTTGAATGGACATATTTGCCTAGCGGTCACCATATTGGACAGTGCGGTGAATCTATATTGATTAAAATGGTCATGACCATATAATAGCCAAAAAACAAGTGAAAAAATGCTCCACATCACTAATCATCAGAGGAATGCAAATCAAAACCA... | CATTGCTCTTTCATTCTCTTACCACACTGAATAATAGTATATTTTGCAATGGTGGAAATCTTCTGTGCTGTCCACCAGACACATGGTTGTTGAGTTCTGAGAATATGAACAATGTGGCTGAGAAACCTGAATGTTTAATGGTATTTAATTGTAACTAATTCAAATTTAAATTTGAATGGACATATTTGCCTAGCGGTCACCATATTGGACAGTGCGGTGAATCTATATTGATTAAAATGGTCATGACCATATAATAGCCAAAAAACAAGTGAAAAAATGCTCCACATCACTAATCATCAGAGGAATGCAAATCAAAACCA... | pathogenic | 136,625 |
Variant chromosome 8, position 86666950, gene CNGB3 (cyclic nucleotide gated channel subunit beta 3): benign or pathogenic? Disease(s)? | pathogenic; ['Abnormal_electroretinogram', 'Achromatopsia', 'Achromatopsia_3', 'Leber_congenital_amaurosis', 'Nystagmus', 'Retinal_dystrophy'] | TTCTCTTACCACACTGAATAATAGTATATTTTGCAATGGTGGAAATCTTCTGTGCTGTCCACCAGACACATGGTTGTTGAGTTCTGAGAATATGAACAATGTGGCTGAGAAACCTGAATGTTTAATGGTATTTAATTGTAACTAATTCAAATTTAAATTTGAATGGACATATTTGCCTAGCGGTCACCATATTGGACAGTGCGGTGAATCTATATTGATTAAAATGGTCATGACCATATAATAGCCAAAAAACAAGTGAAAAAATGCTCCACATCACTAATCATCAGAGGAATGCAAATCAAAACCACAATGAGATACCA... | TTCTCTTACCACACTGAATAATAGTATATTTTGCAATGGTGGAAATCTTCTGTGCTGTCCACCAGACACATGGTTGTTGAGTTCTGAGAATATGAACAATGTGGCTGAGAAACCTGAATGTTTAATGGTATTTAATTGTAACTAATTCAAATTTAAATTTGAATGGACATATTTGCCTAGCGGTCACCATATTGGACAGTGCGGTGAATCTATATTGATTAAAATGGTCATGACCATATAATAGCCAAAAAACAAGTGAAAAAATGCTCCACATCACTAATCATCAGAGGAATGCAAATCAAAACCACAATGAGATACCA... | pathogenic | 136,626 |
Chromosome 8, position 86667094, gene CNGB3 (cyclic nucleotide gated channel subunit beta 3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Achromatopsia_3'] | ATTCAAATTTAAATTTGAATGGACATATTTGCCTAGCGGTCACCATATTGGACAGTGCGGTGAATCTATATTGATTAAAATGGTCATGACCATATAATAGCCAAAAAACAAGTGAAAAAATGCTCCACATCACTAATCATCAGAGGAATGCAAATCAAAACCACAATGAGATACCATCTCATACAAGTCAGAATGGCTATTACTAAAAAGTCAAAAAACAGCTGATGCTGGCAAAGGCTGCAGAGAAAAGGGAGCACTTATAAACTGTTGGTAGGAGGGTAAATTAGTTCAGCCACTGTGGAAATCAACTTGGAGATTTC... | ATTCAAATTTAAATTTGAATGGACATATTTGCCTAGCGGTCACCATATTGGACAGTGCGGTGAATCTATATTGATTAAAATGGTCATGACCATATAATAGCCAAAAAACAAGTGAAAAAATGCTCCACATCACTAATCATCAGAGGAATGCAAATCAAAACCACAATGAGATACCATCTCATACAAGTCAGAATGGCTATTACTAAAAAGTCAAAAAACAGCTGATGCTGGCAAAGGCTGCAGAGAAAAGGGAGCACTTATAAACTGTTGGTAGGAGGGTAAATTAGTTCAGCCACTGTGGAAATCAACTTGGAGATTTC... | pathogenic | 136,629 |
Mutation at chromosome 8, position 86668066, within CNGB3 (cyclic nucleotide gated channel subunit beta 3): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Achromatopsia_3'] | CTACACAAAGATAAACAAGGCACAGTCCGTGTCCTAAAATATTACAGCCTAGTACTTTCTCACAACACCAGGCTGTCTCCTAAGAAGGTTGAGTAGGTTCTAATGAGTGAAATAATACCTATCTTATTTTTAAAAGTATTGAAGTGAACGGTAGACTGTAATGTGATAGAAAACAACTGCTTCACAGACTGTTTGAGGCTTGATTACCAGAGGACTATATATTAAATGGTTTCTTCTTTTGGTATTGATAATTGATCTATTTAAAAAACATTATTTAGGTAAAATATGTGGATAGTTTCAACATTTCAGACTTGGCACTC... | CTACACAAAGATAAACAAGGCACAGTCCGTGTCCTAAAATATTACAGCCTAGTACTTTCTCACAACACCAGGCTGTCTCCTAAGAAGGTTGAGTAGGTTCTAATGAGTGAAATAATACCTATCTTATTTTTAAAAGTATTGAAGTGAACGGTAGACTGTAATGTGATAGAAAACAACTGCTTCACAGACTGTTTGAGGCTTGATTACCAGAGGACTATATATTAAATGGTTTCTTCTTTTGGTATTGATAATTGATCTATTTAAAAAACATTATTTAGGTAAAATATGTGGATAGTTTCAACATTTCAGACTTGGCACTC... | pathogenic | 136,638 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 8, position 86668178, gene CNGB3 (cyclic nucleotide gated channel subunit beta 3). What disease(s) is it linked to if pathogenic? | benign | TAATACCTATCTTATTTTTAAAAGTATTGAAGTGAACGGTAGACTGTAATGTGATAGAAAACAACTGCTTCACAGACTGTTTGAGGCTTGATTACCAGAGGACTATATATTAAATGGTTTCTTCTTTTGGTATTGATAATTGATCTATTTAAAAAACATTATTTAGGTAAAATATGTGGATAGTTTCAACATTTCAGACTTGGCACTCTCTTTGTAGGCTCAAGTATTGTCAAATTCTGAAACACTTGCTAACCTGAACCTGCGTGATTGTAGAGGCAAGGCCTGGGTTAGGATCCTGGCTCAGCTACTATCCAGCTTTG... | TAATACCTATCTTATTTTTAAAAGTATTGAAGTGAACGGTAGACTGTAATGTGATAGAAAACAACTGCTTCACAGACTGTTTGAGGCTTGATTACCAGAGGACTATATATTAAATGGTTTCTTCTTTTGGTATTGATAATTGATCTATTTAAAAAACATTATTTAGGTAAAATATGTGGATAGTTTCAACATTTCAGACTTGGCACTCTCTTTGTAGGCTCAAGTATTGTCAAATTCTGAAACACTTGCTAACCTGAACCTGCGTGATTGTAGAGGCAAGGCCTGGGTTAGGATCCTGGCTCAGCTACTATCCAGCTTTG... | benign | 136,640 |
A genetic variant on chromosome 8, position 86670990, affects the gene CNGB3 (cyclic nucleotide gated channel subunit beta 3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Achromatopsia_3'] | CCAAGAGTTAGAGGCGGCAGTCAGCTATGACTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGCCATTAAAAGAATAAAATAAGATTAAATAAATATATAAATAAAATGTTTGTCTACACTGAAATATTTATGGATGAAATATAGTGTCTGGAATTTGCTTTAAAAGCTCATTGTAACTCCAATATTACAGGAAATAAATTTTAAAAAATGAAAAAAGAATATGTTAAAATAATTGAGCTGTACACTTAATATTTGTGGATTTTACAGTTTTTAAACTGTCTCAAATAAAAATGTAGCGTATAAAATAAA... | CCAAGAGTTAGAGGCGGCAGTCAGCTATGACTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGCCATTAAAAGAATAAAATAAGATTAAATAAATATATAAATAAAATGTTTGTCTACACTGAAATATTTATGGATGAAATATAGTGTCTGGAATTTGCTTTAAAAGCTCATTGTAACTCCAATATTACAGGAAATAAATTTTAAAAAATGAAAAAAGAATATGTTAAAATAATTGAGCTGTACACTTAATATTTGTGGATTTTACAGTTTTTAAACTGTCTCAAATAAAAATGTAGCGTATAAAATAAA... | pathogenic | 136,643 |
Variant chromosome 8, position 86670991, gene CNGB3 (cyclic nucleotide gated channel subunit beta 3): benign or pathogenic? Disease(s)? | pathogenic; ['Achromatopsia_3'] | CAAGAGTTAGAGGCGGCAGTCAGCTATGACTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGCCATTAAAAGAATAAAATAAGATTAAATAAATATATAAATAAAATGTTTGTCTACACTGAAATATTTATGGATGAAATATAGTGTCTGGAATTTGCTTTAAAAGCTCATTGTAACTCCAATATTACAGGAAATAAATTTTAAAAAATGAAAAAAGAATATGTTAAAATAATTGAGCTGTACACTTAATATTTGTGGATTTTACAGTTTTTAAACTGTCTCAAATAAAAATGTAGCGTATAAAATAAAG... | CAAGAGTTAGAGGCGGCAGTCAGCTATGACTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGCCATTAAAAGAATAAAATAAGATTAAATAAATATATAAATAAAATGTTTGTCTACACTGAAATATTTATGGATGAAATATAGTGTCTGGAATTTGCTTTAAAAGCTCATTGTAACTCCAATATTACAGGAAATAAATTTTAAAAAATGAAAAAAGAATATGTTAAAATAATTGAGCTGTACACTTAATATTTGTGGATTTTACAGTTTTTAAACTGTCTCAAATAAAAATGTAGCGTATAAAATAAAG... | pathogenic | 136,644 |
The genetic variant at chromosome 8, position 86671024, affecting gene CNGB3 (cyclic nucleotide gated channel subunit beta 3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Achromatopsia_3'] | GCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGCCATTAAAAGAATAAAATAAGATTAAATAAATATATAAATAAAATGTTTGTCTACACTGAAATATTTATGGATGAAATATAGTGTCTGGAATTTGCTTTAAAAGCTCATTGTAACTCCAATATTACAGGAAATAAATTTTAAAAAATGAAAAAAGAATATGTTAAAATAATTGAGCTGTACACTTAATATTTGTGGATTTTACAGTTTTTAAACTGTCTCAAATAAAAATGTAGCGTATAAAATAAAGACATTCTCACATTAAAAAAGAAAACAAATCATG... | GCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGCCATTAAAAGAATAAAATAAGATTAAATAAATATATAAATAAAATGTTTGTCTACACTGAAATATTTATGGATGAAATATAGTGTCTGGAATTTGCTTTAAAAGCTCATTGTAACTCCAATATTACAGGAAATAAATTTTAAAAAATGAAAAAAGAATATGTTAAAATAATTGAGCTGTACACTTAATATTTGTGGATTTTACAGTTTTTAAACTGTCTCAAATAAAAATGTAGCGTATAAAATAAAGACATTCTCACATTAAAAAAGAAAACAAATCATG... | pathogenic | 136,645 |
Clinical significance of chromosome 8, position 86726570, gene CNGB3 (cyclic nucleotide gated channel subunit beta 3): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | TGTAGGTACTGGGGATACTAATCATCAACAAAAACAGGCATGGCCCCTGCCATCATGAAGCACACAATTTAGAGATTGAGACTGATGGATTTTTCAGGCAGATAATCATATAAAATGCATCAGCAATAAATGCTGTGAAAGAGATCTTATAATAGGGGCACATAGCCTAGTTAGGAATGTCAGGGAAAGCCTTACAAAGGAAGTATTGGTCATATTGTTATCTGAAGAATGAATAGAAGTTAATTAGGTGATAAGGGGAGGAAAGAATAGAACAAGCAGAGGAAGTAGTATGTGCAAAAGCCTGCGGCAGGAGGGAACAT... | TGTAGGTACTGGGGATACTAATCATCAACAAAAACAGGCATGGCCCCTGCCATCATGAAGCACACAATTTAGAGATTGAGACTGATGGATTTTTCAGGCAGATAATCATATAAAATGCATCAGCAATAAATGCTGTGAAAGAGATCTTATAATAGGGGCACATAGCCTAGTTAGGAATGTCAGGGAAAGCCTTACAAAGGAAGTATTGGTCATATTGTTATCTGAAGAATGAATAGAAGTTAATTAGGTGATAAGGGGAGGAAAGAATAGAACAAGCAGAGGAAGTAGTATGTGCAAAAGCCTGCGGCAGGAGGGAACAT... | pathogenic | 136,648 |
Variant at chromosome 8, position 86726647, gene CNGB3 (cyclic nucleotide gated channel subunit beta 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Achromatopsia_3'] | GAGACTGATGGATTTTTCAGGCAGATAATCATATAAAATGCATCAGCAATAAATGCTGTGAAAGAGATCTTATAATAGGGGCACATAGCCTAGTTAGGAATGTCAGGGAAAGCCTTACAAAGGAAGTATTGGTCATATTGTTATCTGAAGAATGAATAGAAGTTAATTAGGTGATAAGGGGAGGAAAGAATAGAACAAGCAGAGGAAGTAGTATGTGCAAAAGCCTGCGGCAGGAGGGAACATGACAAATACAAGAGACTGAAATAGAACAGGTGTGACTGGAGCAGAGAGGTGGGAAAGTTGTGTGTTGGGAGAGGACA... | GAGACTGATGGATTTTTCAGGCAGATAATCATATAAAATGCATCAGCAATAAATGCTGTGAAAGAGATCTTATAATAGGGGCACATAGCCTAGTTAGGAATGTCAGGGAAAGCCTTACAAAGGAAGTATTGGTCATATTGTTATCTGAAGAATGAATAGAAGTTAATTAGGTGATAAGGGGAGGAAAGAATAGAACAAGCAGAGGAAGTAGTATGTGCAAAAGCCTGCGGCAGGAGGGAACATGACAAATACAAGAGACTGAAATAGAACAGGTGTGACTGGAGCAGAGAGGTGGGAAAGTTGTGTGTTGGGAGAGGACA... | pathogenic | 136,649 |
The mutation impacting CNGB3 (cyclic nucleotide gated channel subunit beta 3) on chromosome 8 at position 86743513: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Achromatopsia', 'Achromatopsia_3'] | ACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGACACAGAGGTTGCAGCGAGTCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAAAAAAAACAAAAAAAAAAAATCTAATGTGATGCCAGTAGACTTCGCGATTAATATCCACAAATTATGGCTGTTGGAATGGCATGGGATATACCTAAGGGGTGCTCTACCTGTGCCTAA... | ACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGACACAGAGGTTGCAGCGAGTCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAAAAAAAACAAAAAAAAAAAATCTAATGTGATGCCAGTAGACTTCGCGATTAATATCCACAAATTATGGCTGTTGGAATGGCATGGGATATACCTAAGGGGTGCTCTACCTGTGCCTAA... | pathogenic | 136,655 |
Clinical classification of chromosome 8, position 86743598, gene CNGB3 (cyclic nucleotide gated channel subunit beta 3): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Achromatopsia_3'] | CAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGACACAGAGGTTGCAGCGAGTCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAAAAAAAACAAAAAAAAAAAATCTAATGTGATGCCAGTAGACTTCGCGATTAATATCCACAAATTATGGCTGTTGGAATGGCATGGGATATACCTAAGGGGTGCTCTACCTGTGCCTAATCTAAGTACTTCTCCAATATTCCTGTTTTGAAAGGAAAGATAACTCTTTAAGAAGTTTCTCTTCTTTTTTCGCCTTCTCTCTAAT... | CAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGACACAGAGGTTGCAGCGAGTCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAAAAAAAACAAAAAAAAAAAATCTAATGTGATGCCAGTAGACTTCGCGATTAATATCCACAAATTATGGCTGTTGGAATGGCATGGGATATACCTAAGGGGTGCTCTACCTGTGCCTAATCTAAGTACTTCTCCAATATTCCTGTTTTGAAAGGAAAGATAACTCTTTAAGAAGTTTCTCTTCTTTTTTCGCCTTCTCTCTAAT... | pathogenic | 136,658 |
For chromosome 8, position 89935616, gene NBN (nibrin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TGGATACTTGTATGGGGGAAAAAAAGAACCCTGATCCATAATTCACAACATACATATCAATTCAAGGTAGATCACAAATATAAAAATATAAAGTTTATATAATAGAGCAGAATATCTGAAATCTTGGGGTTAAATTGGAGAGAAAAAATATCAAACAAAAGAAAAAAATAAATTTGACCTTGTCAAAATTTAAAACTTCTATTCATCAAAAGACATAAAGAAAACAGTCAAGCCACAGACTAGGTGTAATATCTCAATACATATATCCGACAAGAGACTTGCATCTAGAATGTATAAAGAATTTCTATGACCCAATTATA... | TGGATACTTGTATGGGGGAAAAAAAGAACCCTGATCCATAATTCACAACATACATATCAATTCAAGGTAGATCACAAATATAAAAATATAAAGTTTATATAATAGAGCAGAATATCTGAAATCTTGGGGTTAAATTGGAGAGAAAAAATATCAAACAAAAGAAAAAAATAAATTTGACCTTGTCAAAATTTAAAACTTCTATTCATCAAAAGACATAAAGAAAACAGTCAAGCCACAGACTAGGTGTAATATCTCAATACATATATCCGACAAGAGACTTGCATCTAGAATGTATAAAGAATTTCTATGACCCAATTATA... | benign | 136,679 |
Variant on chromosome 8, at position 89937021, affecting NBN (nibrin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | GAATAACATGTAGGTGACATCTGCACCACTGAAGCCATTTTGTTTGGATCACCAGAGTTTAGGTAAGACTACAGCATAATGGAAAAGAAAAAATATTAAAAACATTATATTGATATTCCTATAATTTTTAATCTACTAAGTAAAAAAGCAAGGTGTAGAACACTGCATATGTTATGCTATCATTTGTGTAGGAAATTATTTAAAAATAGGAATTTGAATAGGACTCAAAAATCCCTGGAAAGATTCATAAGAAATGAGTATCATGAATTTTTTTCTGAGGGGAACCAAGTAGCTAGGACAATGGTGGAAGGGTGACTTTA... | GAATAACATGTAGGTGACATCTGCACCACTGAAGCCATTTTGTTTGGATCACCAGAGTTTAGGTAAGACTACAGCATAATGGAAAAGAAAAAATATTAAAAACATTATATTGATATTCCTATAATTTTTAATCTACTAAGTAAAAAAGCAAGGTGTAGAACACTGCATATGTTATGCTATCATTTGTGTAGGAAATTATTTAAAAATAGGAATTTGAATAGGACTCAAAAATCCCTGGAAAGATTCATAAGAAATGAGTATCATGAATTTTTTTCTGAGGGGAACCAAGTAGCTAGGACAATGGTGGAAGGGTGACTTTA... | pathogenic | 136,689 |
A genetic alteration at chromosome 8, position 89943337, in gene NBN (nibrin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Microcephaly,_normal_intelligence_and_immunodeficiency'] | TCGAGCTTAAGAAAGATGACTGGTCATGCATGCAAGTCACCTAAAAAGGGAAAAACAGGACTGGCATAAGGTAAGGGAGGCTAGGTGGGAGGAAGTACTAATAATGTCCTCACTTTTCACTGTAGCGAGCCAACAAATAATTGTATGTGAAGTTAATATGAAGTTTAAAACTACCCATTCCGACTTACAGTGATTTTTATAGTTTTCCTCCTTAATATTAGACAGATCTCACAAAATAAAATATCTTGGAGGGAAGAAACATTTATAGAAATTCAGCAATGCCTTCAGTTTAACTTCCTCCTATCAATGTCTCTCTCTTC... | TCGAGCTTAAGAAAGATGACTGGTCATGCATGCAAGTCACCTAAAAAGGGAAAAACAGGACTGGCATAAGGTAAGGGAGGCTAGGTGGGAGGAAGTACTAATAATGTCCTCACTTTTCACTGTAGCGAGCCAACAAATAATTGTATGTGAAGTTAATATGAAGTTTAAAACTACCCATTCCGACTTACAGTGATTTTTATAGTTTTCCTCCTTAATATTAGACAGATCTCACAAAATAAAATATCTTGGAGGGAAGAAACATTTATAGAAATTCAGCAATGCCTTCAGTTTAACTTCCTCCTATCAATGTCTCTCTCTTC... | pathogenic | 136,720 |
Clinical significance of chromosome 8, position 89943339, gene NBN (nibrin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Aplastic_anemia', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | GAGCTTAAGAAAGATGACTGGTCATGCATGCAAGTCACCTAAAAAGGGAAAAACAGGACTGGCATAAGGTAAGGGAGGCTAGGTGGGAGGAAGTACTAATAATGTCCTCACTTTTCACTGTAGCGAGCCAACAAATAATTGTATGTGAAGTTAATATGAAGTTTAAAACTACCCATTCCGACTTACAGTGATTTTTATAGTTTTCCTCCTTAATATTAGACAGATCTCACAAAATAAAATATCTTGGAGGGAAGAAACATTTATAGAAATTCAGCAATGCCTTCAGTTTAACTTCCTCCTATCAATGTCTCTCTCTTCCT... | GAGCTTAAGAAAGATGACTGGTCATGCATGCAAGTCACCTAAAAAGGGAAAAACAGGACTGGCATAAGGTAAGGGAGGCTAGGTGGGAGGAAGTACTAATAATGTCCTCACTTTTCACTGTAGCGAGCCAACAAATAATTGTATGTGAAGTTAATATGAAGTTTAAAACTACCCATTCCGACTTACAGTGATTTTTATAGTTTTCCTCCTTAATATTAGACAGATCTCACAAAATAAAATATCTTGGAGGGAAGAAACATTTATAGAAATTCAGCAATGCCTTCAGTTTAACTTCCTCCTATCAATGTCTCTCTCTTCCT... | pathogenic | 136,721 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 8, position 89943365, gene NBN (nibrin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Aplastic_anemia', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | CATGCAAGTCACCTAAAAAGGGAAAAACAGGACTGGCATAAGGTAAGGGAGGCTAGGTGGGAGGAAGTACTAATAATGTCCTCACTTTTCACTGTAGCGAGCCAACAAATAATTGTATGTGAAGTTAATATGAAGTTTAAAACTACCCATTCCGACTTACAGTGATTTTTATAGTTTTCCTCCTTAATATTAGACAGATCTCACAAAATAAAATATCTTGGAGGGAAGAAACATTTATAGAAATTCAGCAATGCCTTCAGTTTAACTTCCTCCTATCAATGTCTCTCTCTTCCTTCCCAGTCTGTCCCTGCCTCTCACTA... | CATGCAAGTCACCTAAAAAGGGAAAAACAGGACTGGCATAAGGTAAGGGAGGCTAGGTGGGAGGAAGTACTAATAATGTCCTCACTTTTCACTGTAGCGAGCCAACAAATAATTGTATGTGAAGTTAATATGAAGTTTAAAACTACCCATTCCGACTTACAGTGATTTTTATAGTTTTCCTCCTTAATATTAGACAGATCTCACAAAATAAAATATCTTGGAGGGAAGAAACATTTATAGAAATTCAGCAATGCCTTCAGTTTAACTTCCTCCTATCAATGTCTCTCTCTTCCTTCCCAGTCTGTCCCTGCCTCTCACTA... | pathogenic | 136,727 |
Does the chromosome 8 mutation at position 89946137 within gene NBN (nibrin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TTTTTTGTTTGTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGAGTGCAGTGTGAGGAGAGAGAAAATCACCTGGTGACCATGGAACAGGCCCCAGAGACAAAACTTCTTCTCTAAGCAATTTAGAAGGGGGCAAAGACCAACCGGTGACCATCAAACAGGCTAACTGGAGGCAAAACTCCTTATCTGGGTAATTTAGAAGTAATCAAACTTCCCTAGTATCTAAAGTCGGCTTCTGATTCCAGGCCTCTTTCAACTTTTATAAGTAACTAAAATTTTTATACATCTCTGGAATGCCATGGTGAAACTCATTTT... | TTTTTTGTTTGTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGAGTGCAGTGTGAGGAGAGAGAAAATCACCTGGTGACCATGGAACAGGCCCCAGAGACAAAACTTCTTCTCTAAGCAATTTAGAAGGGGGCAAAGACCAACCGGTGACCATCAAACAGGCTAACTGGAGGCAAAACTCCTTATCTGGGTAATTTAGAAGTAATCAAACTTCCCTAGTATCTAAAGTCGGCTTCTGATTCCAGGCCTCTTTCAACTTTTATAAGTAACTAAAATTTTTATACATCTCTGGAATGCCATGGTGAAACTCATTTT... | pathogenic | 136,736 |
Variant in gene NBN (nibrin), located at chromosome 8 position 89946158: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome'] | GGGTCTCACTCTGTCACCTAGGCTGGAGAGTGCAGTGTGAGGAGAGAGAAAATCACCTGGTGACCATGGAACAGGCCCCAGAGACAAAACTTCTTCTCTAAGCAATTTAGAAGGGGGCAAAGACCAACCGGTGACCATCAAACAGGCTAACTGGAGGCAAAACTCCTTATCTGGGTAATTTAGAAGTAATCAAACTTCCCTAGTATCTAAAGTCGGCTTCTGATTCCAGGCCTCTTTCAACTTTTATAAGTAACTAAAATTTTTATACATCTCTGGAATGCCATGGTGAAACTCATTTTACAATCCCAAGCTCCCACCTT... | GGGTCTCACTCTGTCACCTAGGCTGGAGAGTGCAGTGTGAGGAGAGAGAAAATCACCTGGTGACCATGGAACAGGCCCCAGAGACAAAACTTCTTCTCTAAGCAATTTAGAAGGGGGCAAAGACCAACCGGTGACCATCAAACAGGCTAACTGGAGGCAAAACTCCTTATCTGGGTAATTTAGAAGTAATCAAACTTCCCTAGTATCTAAAGTCGGCTTCTGATTCCAGGCCTCTTTCAACTTTTATAAGTAACTAAAATTTTTATACATCTCTGGAATGCCATGGTGAAACTCATTTTACAATCCCAAGCTCCCACCTT... | pathogenic | 136,743 |
Is the genetic mutation found on chromosome 8 at position 89946172, within the gene NBN (nibrin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Aplastic_anemia', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | CACCTAGGCTGGAGAGTGCAGTGTGAGGAGAGAGAAAATCACCTGGTGACCATGGAACAGGCCCCAGAGACAAAACTTCTTCTCTAAGCAATTTAGAAGGGGGCAAAGACCAACCGGTGACCATCAAACAGGCTAACTGGAGGCAAAACTCCTTATCTGGGTAATTTAGAAGTAATCAAACTTCCCTAGTATCTAAAGTCGGCTTCTGATTCCAGGCCTCTTTCAACTTTTATAAGTAACTAAAATTTTTATACATCTCTGGAATGCCATGGTGAAACTCATTTTACAATCCCAAGCTCCCACCTTAAGGTCCATAAATG... | CACCTAGGCTGGAGAGTGCAGTGTGAGGAGAGAGAAAATCACCTGGTGACCATGGAACAGGCCCCAGAGACAAAACTTCTTCTCTAAGCAATTTAGAAGGGGGCAAAGACCAACCGGTGACCATCAAACAGGCTAACTGGAGGCAAAACTCCTTATCTGGGTAATTTAGAAGTAATCAAACTTCCCTAGTATCTAAAGTCGGCTTCTGATTCCAGGCCTCTTTCAACTTTTATAAGTAACTAAAATTTTTATACATCTCTGGAATGCCATGGTGAAACTCATTTTACAATCCCAAGCTCCCACCTTAAGGTCCATAAATG... | pathogenic | 136,747 |
Clinical impact (benign or pathogenic) of the variant at chromosome 8, location 89946208, gene NBN (nibrin): what disease(s) if pathogenic? | pathogenic; ['Microcephaly,_normal_intelligence_and_immunodeficiency'] | AATCACCTGGTGACCATGGAACAGGCCCCAGAGACAAAACTTCTTCTCTAAGCAATTTAGAAGGGGGCAAAGACCAACCGGTGACCATCAAACAGGCTAACTGGAGGCAAAACTCCTTATCTGGGTAATTTAGAAGTAATCAAACTTCCCTAGTATCTAAAGTCGGCTTCTGATTCCAGGCCTCTTTCAACTTTTATAAGTAACTAAAATTTTTATACATCTCTGGAATGCCATGGTGAAACTCATTTTACAATCCCAAGCTCCCACCTTAAGGTCCATAAATGCTCCTAAGGACAATCCGCCACAGTGTGCTCAGTCCT... | AATCACCTGGTGACCATGGAACAGGCCCCAGAGACAAAACTTCTTCTCTAAGCAATTTAGAAGGGGGCAAAGACCAACCGGTGACCATCAAACAGGCTAACTGGAGGCAAAACTCCTTATCTGGGTAATTTAGAAGTAATCAAACTTCCCTAGTATCTAAAGTCGGCTTCTGATTCCAGGCCTCTTTCAACTTTTATAAGTAACTAAAATTTTTATACATCTCTGGAATGCCATGGTGAAACTCATTTTACAATCCCAAGCTCCCACCTTAAGGTCCATAAATGCTCCTAAGGACAATCCGCCACAGTGTGCTCAGTCCT... | pathogenic | 136,758 |
Variant in NBN (nibrin), chromosome 8, position 89946235—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | CCAGAGACAAAACTTCTTCTCTAAGCAATTTAGAAGGGGGCAAAGACCAACCGGTGACCATCAAACAGGCTAACTGGAGGCAAAACTCCTTATCTGGGTAATTTAGAAGTAATCAAACTTCCCTAGTATCTAAAGTCGGCTTCTGATTCCAGGCCTCTTTCAACTTTTATAAGTAACTAAAATTTTTATACATCTCTGGAATGCCATGGTGAAACTCATTTTACAATCCCAAGCTCCCACCTTAAGGTCCATAAATGCTCCTAAGGACAATCCGCCACAGTGTGCTCAGTCCTCTCGCTGAGGCACCCCTCTGCATTCTT... | CCAGAGACAAAACTTCTTCTCTAAGCAATTTAGAAGGGGGCAAAGACCAACCGGTGACCATCAAACAGGCTAACTGGAGGCAAAACTCCTTATCTGGGTAATTTAGAAGTAATCAAACTTCCCTAGTATCTAAAGTCGGCTTCTGATTCCAGGCCTCTTTCAACTTTTATAAGTAACTAAAATTTTTATACATCTCTGGAATGCCATGGTGAAACTCATTTTACAATCCCAAGCTCCCACCTTAAGGTCCATAAATGCTCCTAAGGACAATCCGCCACAGTGTGCTCAGTCCTCTCGCTGAGGCACCCCTCTGCATTCTT... | pathogenic | 136,766 |
Mutation at chromosome 8, position 89946251, within NBN (nibrin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TTCTCTAAGCAATTTAGAAGGGGGCAAAGACCAACCGGTGACCATCAAACAGGCTAACTGGAGGCAAAACTCCTTATCTGGGTAATTTAGAAGTAATCAAACTTCCCTAGTATCTAAAGTCGGCTTCTGATTCCAGGCCTCTTTCAACTTTTATAAGTAACTAAAATTTTTATACATCTCTGGAATGCCATGGTGAAACTCATTTTACAATCCCAAGCTCCCACCTTAAGGTCCATAAATGCTCCTAAGGACAATCCGCCACAGTGTGCTCAGTCCTCTCGCTGAGGCACCCCTCTGCATTCTTCTGCAGTGTTCTTCCT... | TTCTCTAAGCAATTTAGAAGGGGGCAAAGACCAACCGGTGACCATCAAACAGGCTAACTGGAGGCAAAACTCCTTATCTGGGTAATTTAGAAGTAATCAAACTTCCCTAGTATCTAAAGTCGGCTTCTGATTCCAGGCCTCTTTCAACTTTTATAAGTAACTAAAATTTTTATACATCTCTGGAATGCCATGGTGAAACTCATTTTACAATCCCAAGCTCCCACCTTAAGGTCCATAAATGCTCCTAAGGACAATCCGCCACAGTGTGCTCAGTCCTCTCGCTGAGGCACCCCTCTGCATTCTTCTGCAGTGTTCTTCCT... | pathogenic | 136,768 |
A genetic variant on chromosome 8, position 89946269, affects the gene NBN (nibrin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AGGGGGCAAAGACCAACCGGTGACCATCAAACAGGCTAACTGGAGGCAAAACTCCTTATCTGGGTAATTTAGAAGTAATCAAACTTCCCTAGTATCTAAAGTCGGCTTCTGATTCCAGGCCTCTTTCAACTTTTATAAGTAACTAAAATTTTTATACATCTCTGGAATGCCATGGTGAAACTCATTTTACAATCCCAAGCTCCCACCTTAAGGTCCATAAATGCTCCTAAGGACAATCCGCCACAGTGTGCTCAGTCCTCTCGCTGAGGCACCCCTCTGCATTCTTCTGCAGTGTTCTTCCTTTCTAATAAACTTTCCTT... | AGGGGGCAAAGACCAACCGGTGACCATCAAACAGGCTAACTGGAGGCAAAACTCCTTATCTGGGTAATTTAGAAGTAATCAAACTTCCCTAGTATCTAAAGTCGGCTTCTGATTCCAGGCCTCTTTCAACTTTTATAAGTAACTAAAATTTTTATACATCTCTGGAATGCCATGGTGAAACTCATTTTACAATCCCAAGCTCCCACCTTAAGGTCCATAAATGCTCCTAAGGACAATCCGCCACAGTGTGCTCAGTCCTCTCGCTGAGGCACCCCTCTGCATTCTTCTGCAGTGTTCTTCCTTTCTAATAAACTTTCCTT... | pathogenic | 136,770 |
Classify the chromosome 8 variant at position 89947802 affecting gene NBN as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TACTGAATATGCTTAGTTATTTTAAATACATTTTAATCTTCATAAAGTCCTGAGCTAAAGAACCTCCTCAAGTAGTTGTAGACCAATATTAGACTAACAGAGAAGATCCTGTGATTATCAACAAAAACTTCCTGCTTAAGGTAGAGAAAACCAGGTAAACAGCAACCTCTAAAGAATTCAATCTTGATGAAATCTATTTCATTCTAGGTGTTCAATATATTCATTAACTGTAAGTTCATATCCTTCCTAGAGGAATTTTTTAAAGCATTTTAAGCAGAAGAAGTATCAGTTTTCAACATAAACTGCTTTTATCTTTGTTT... | TACTGAATATGCTTAGTTATTTTAAATACATTTTAATCTTCATAAAGTCCTGAGCTAAAGAACCTCCTCAAGTAGTTGTAGACCAATATTAGACTAACAGAGAAGATCCTGTGATTATCAACAAAAACTTCCTGCTTAAGGTAGAGAAAACCAGGTAAACAGCAACCTCTAAAGAATTCAATCTTGATGAAATCTATTTCATTCTAGGTGTTCAATATATTCATTAACTGTAAGTTCATATCCTTCCTAGAGGAATTTTTTAAAGCATTTTAAGCAGAAGAAGTATCAGTTTTCAACATAAACTGCTTTTATCTTTGTTT... | benign | 136,775 |
Does the chromosome 8 mutation at position 89947805 within gene NBN classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TGAATATGCTTAGTTATTTTAAATACATTTTAATCTTCATAAAGTCCTGAGCTAAAGAACCTCCTCAAGTAGTTGTAGACCAATATTAGACTAACAGAGAAGATCCTGTGATTATCAACAAAAACTTCCTGCTTAAGGTAGAGAAAACCAGGTAAACAGCAACCTCTAAAGAATTCAATCTTGATGAAATCTATTTCATTCTAGGTGTTCAATATATTCATTAACTGTAAGTTCATATCCTTCCTAGAGGAATTTTTTAAAGCATTTTAAGCAGAAGAAGTATCAGTTTTCAACATAAACTGCTTTTATCTTTGTTTAGC... | TGAATATGCTTAGTTATTTTAAATACATTTTAATCTTCATAAAGTCCTGAGCTAAAGAACCTCCTCAAGTAGTTGTAGACCAATATTAGACTAACAGAGAAGATCCTGTGATTATCAACAAAAACTTCCTGCTTAAGGTAGAGAAAACCAGGTAAACAGCAACCTCTAAAGAATTCAATCTTGATGAAATCTATTTCATTCTAGGTGTTCAATATATTCATTAACTGTAAGTTCATATCCTTCCTAGAGGAATTTTTTAAAGCATTTTAAGCAGAAGAAGTATCAGTTTTCAACATAAACTGCTTTTATCTTTGTTTAGC... | benign | 136,777 |
Gene NBN variant at chromosome position 89947828 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TACATTTTAATCTTCATAAAGTCCTGAGCTAAAGAACCTCCTCAAGTAGTTGTAGACCAATATTAGACTAACAGAGAAGATCCTGTGATTATCAACAAAAACTTCCTGCTTAAGGTAGAGAAAACCAGGTAAACAGCAACCTCTAAAGAATTCAATCTTGATGAAATCTATTTCATTCTAGGTGTTCAATATATTCATTAACTGTAAGTTCATATCCTTCCTAGAGGAATTTTTTAAAGCATTTTAAGCAGAAGAAGTATCAGTTTTCAACATAAACTGCTTTTATCTTTGTTTAGCATCACTGGTATCTCTAAAAACAT... | TACATTTTAATCTTCATAAAGTCCTGAGCTAAAGAACCTCCTCAAGTAGTTGTAGACCAATATTAGACTAACAGAGAAGATCCTGTGATTATCAACAAAAACTTCCTGCTTAAGGTAGAGAAAACCAGGTAAACAGCAACCTCTAAAGAATTCAATCTTGATGAAATCTATTTCATTCTAGGTGTTCAATATATTCATTAACTGTAAGTTCATATCCTTCCTAGAGGAATTTTTTAAAGCATTTTAAGCAGAAGAAGTATCAGTTTTCAACATAAACTGCTTTTATCTTTGTTTAGCATCACTGGTATCTCTAAAAACAT... | pathogenic | 136,779 |
Variant in gene NBN, located at chromosome 8 position 89947852: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TGAGCTAAAGAACCTCCTCAAGTAGTTGTAGACCAATATTAGACTAACAGAGAAGATCCTGTGATTATCAACAAAAACTTCCTGCTTAAGGTAGAGAAAACCAGGTAAACAGCAACCTCTAAAGAATTCAATCTTGATGAAATCTATTTCATTCTAGGTGTTCAATATATTCATTAACTGTAAGTTCATATCCTTCCTAGAGGAATTTTTTAAAGCATTTTAAGCAGAAGAAGTATCAGTTTTCAACATAAACTGCTTTTATCTTTGTTTAGCATCACTGGTATCTCTAAAAACATTTCAAACACTGACCTCTTGTGATA... | TGAGCTAAAGAACCTCCTCAAGTAGTTGTAGACCAATATTAGACTAACAGAGAAGATCCTGTGATTATCAACAAAAACTTCCTGCTTAAGGTAGAGAAAACCAGGTAAACAGCAACCTCTAAAGAATTCAATCTTGATGAAATCTATTTCATTCTAGGTGTTCAATATATTCATTAACTGTAAGTTCATATCCTTCCTAGAGGAATTTTTTAAAGCATTTTAAGCAGAAGAAGTATCAGTTTTCAACATAAACTGCTTTTATCTTTGTTTAGCATCACTGGTATCTCTAAAAACATTTCAAACACTGACCTCTTGTGATA... | pathogenic | 136,789 |
Does the chromosome 8 mutation at position 89947880 within gene NBN classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TAGACCAATATTAGACTAACAGAGAAGATCCTGTGATTATCAACAAAAACTTCCTGCTTAAGGTAGAGAAAACCAGGTAAACAGCAACCTCTAAAGAATTCAATCTTGATGAAATCTATTTCATTCTAGGTGTTCAATATATTCATTAACTGTAAGTTCATATCCTTCCTAGAGGAATTTTTTAAAGCATTTTAAGCAGAAGAAGTATCAGTTTTCAACATAAACTGCTTTTATCTTTGTTTAGCATCACTGGTATCTCTAAAAACATTTCAAACACTGACCTCTTGTGATACAGTTGAAATACCTACCTTTTTGAATTT... | TAGACCAATATTAGACTAACAGAGAAGATCCTGTGATTATCAACAAAAACTTCCTGCTTAAGGTAGAGAAAACCAGGTAAACAGCAACCTCTAAAGAATTCAATCTTGATGAAATCTATTTCATTCTAGGTGTTCAATATATTCATTAACTGTAAGTTCATATCCTTCCTAGAGGAATTTTTTAAAGCATTTTAAGCAGAAGAAGTATCAGTTTTCAACATAAACTGCTTTTATCTTTGTTTAGCATCACTGGTATCTCTAAAAACATTTCAAACACTGACCTCTTGTGATACAGTTGAAATACCTACCTTTTTGAATTT... | pathogenic | 136,792 |
Evaluate the clinical significance of the mutation at chromosome 8, position 89947889 in gene NBN: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | ATTAGACTAACAGAGAAGATCCTGTGATTATCAACAAAAACTTCCTGCTTAAGGTAGAGAAAACCAGGTAAACAGCAACCTCTAAAGAATTCAATCTTGATGAAATCTATTTCATTCTAGGTGTTCAATATATTCATTAACTGTAAGTTCATATCCTTCCTAGAGGAATTTTTTAAAGCATTTTAAGCAGAAGAAGTATCAGTTTTCAACATAAACTGCTTTTATCTTTGTTTAGCATCACTGGTATCTCTAAAAACATTTCAAACACTGACCTCTTGTGATACAGTTGAAATACCTACCTTTTTGAATTTCTTGAAATT... | ATTAGACTAACAGAGAAGATCCTGTGATTATCAACAAAAACTTCCTGCTTAAGGTAGAGAAAACCAGGTAAACAGCAACCTCTAAAGAATTCAATCTTGATGAAATCTATTTCATTCTAGGTGTTCAATATATTCATTAACTGTAAGTTCATATCCTTCCTAGAGGAATTTTTTAAAGCATTTTAAGCAGAAGAAGTATCAGTTTTCAACATAAACTGCTTTTATCTTTGTTTAGCATCACTGGTATCTCTAAAAACATTTCAAACACTGACCTCTTGTGATACAGTTGAAATACCTACCTTTTTGAATTTCTTGAAATT... | pathogenic | 136,794 |
A genetic variant on chromosome 8, position 89953301, affects the gene NBN (nibrin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AGTGAGCGGAGATCACGCCACTGAACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGATTAAAGCATGTACTAGGACAAGAAGACTAAAGAAAATAACATGTCAGAGAAAATCAGAGGAGAAGAGAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTAT... | AGTGAGCGGAGATCACGCCACTGAACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGATTAAAGCATGTACTAGGACAAGAAGACTAAAGAAAATAACATGTCAGAGAAAATCAGAGGAGAAGAGAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTAT... | pathogenic | 136,801 |
Gene NBN (nibrin) variant at chromosome position 89953319 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | CACTGAACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGATTAAAGCATGTACTAGGACAAGAAGACTAAAGAAAATAACATGTCAGAGAAAATCAGAGGAGAAGAGAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTAT... | CACTGAACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGATTAAAGCATGTACTAGGACAAGAAGACTAAAGAAAATAACATGTCAGAGAAAATCAGAGGAGAAGAGAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTAT... | pathogenic | 136,804 |
Does the variant impacting NBN (nibrin) on chromosome 8, position 89953372, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AAAAAAAAGATTAAAGCATGTACTAGGACAAGAAGACTAAAGAAAATAACATGTCAGAGAAAATCAGAGGAGAAGAGAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATT... | AAAAAAAAGATTAAAGCATGTACTAGGACAAGAAGACTAAAGAAAATAACATGTCAGAGAAAATCAGAGGAGAAGAGAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATT... | pathogenic | 136,815 |
Does the genetic variant at chromosome 8, position 89953390, impacting gene NBN (nibrin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TGTACTAGGACAAGAAGACTAAAGAAAATAACATGTCAGAGAAAATCAGAGGAGAAGAGAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCAT... | TGTACTAGGACAAGAAGACTAAAGAAAATAACATGTCAGAGAAAATCAGAGGAGAAGAGAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCAT... | pathogenic | 136,821 |
Regarding the variant at chromosome 8 and position 89953434, affecting gene NBN (nibrin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency', 'NBN-related_disorder'] | ATCAGAGGAGAAGAGAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTC... | ATCAGAGGAGAAGAGAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTC... | pathogenic | 136,827 |
Is the variant located on chromosome 8 at position 89953437, gene NBN (nibrin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AGAGGAGAAGAGAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTG... | AGAGGAGAAGAGAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTG... | pathogenic | 136,829 |
A genetic variant at chromosome 8, position 89953437, affecting gene NBN (nibrin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome'] | AGAGGAGAAGAGAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTG... | AGAGGAGAAGAGAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTG... | pathogenic | 136,830 |
The chromosome 8, position 89953437 genetic variant in gene NBN (nibrin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AGAGGAGAAGAGAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTG... | AGAGGAGAAGAGAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTG... | pathogenic | 136,831 |
Clinical classification of chromosome 8, position 89953437, gene NBN (nibrin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Aplastic_anemia', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AGAGGAGAAGAGAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTG... | AGAGGAGAAGAGAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTG... | pathogenic | 136,832 |
The chromosome 8, position 89953448 genetic variant in gene NBN (nibrin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | GAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGT... | GAGCACAGCAAGGGAAATGTATTTCCAAAGGTGTGGCCAAAGTAATGTAAAAAGTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGT... | pathogenic | 136,835 |
Gene mutation in NBN (nibrin) at chromosome 8, position 89953501—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | GTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTC... | GTGCCTAACTTTCTAAACACTTACATGTAATATTAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTC... | pathogenic | 136,839 |
Does the chromosome 8 mutation at position 89953534 within gene NBN (nibrin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATG... | TAAGTAACCTGAATACAGATTCTGAAAAGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATG... | pathogenic | 136,842 |
Does the variant on chromosome 8 at location 89953561 affecting gene NBN (nibrin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Aplastic_anemia', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTC... | AGTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTC... | pathogenic | 136,847 |
Variant in gene NBN (nibrin), located at chromosome 8 position 89953562: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | GTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTCT... | GTCTGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTCT... | pathogenic | 136,848 |
Mutation found at chromosome 8 position 89953565, gene NBN (nibrin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Aplastic_anemia', 'Gastric_cancer', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTCTCTT... | TGGAACTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTCTCTT... | pathogenic | 136,850 |
Clinical impact (benign or pathogenic) of the variant at chromosome 8, location 89953570, gene NBN (nibrin): what disease(s) if pathogenic? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome'] | CTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTCTCTTTTTTC... | CTAAAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTCTCTTTTTTC... | pathogenic | 136,851 |
Determine if the mutation at chromosome 8, position 89953573 in gene NBN (nibrin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTCTCTTTTTTCCTT... | AAGTAACAATGTAAATCCATAATACCAACAGAATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTCTCTTTTTTCCTT... | pathogenic | 136,853 |
A mutation at chromosome position 89953605 on chromosome 8 in gene NBN (nibrin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | ATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTCTCTTTTTTCCTTAAATGCAACTCTTTATCAGGGACAGCAATGTG... | ATAAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTCTCTTTTTTCCTTAAATGCAACTCTTTATCAGGGACAGCAATGTG... | pathogenic | 136,865 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 8, position 89953607, gene NBN (nibrin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTCTCTTTTTTCCTTAAATGCAACTCTTTATCAGGGACAGCAATGTGCC... | AAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTCTCTTTTTTCCTTAAATGCAACTCTTTATCAGGGACAGCAATGTGCC... | pathogenic | 136,866 |
Variant at chromosome position 89953607, chromosome 8, gene NBN (nibrin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTCTCTTTTTTCCTTAAATGCAACTCTTTATCAGGGACAGCAATGTGCC... | AAAGATAGCTTTATAAACATATGTAAATGTATTAAACTTAGCAAATGATGTCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTCTCTTTTTTCCTTAAATGCAACTCTTTATCAGGGACAGCAATGTGCC... | pathogenic | 136,867 |
Variant chromosome 8, position 89953657, gene NBN (nibrin): benign or pathogenic? Disease(s)? | pathogenic; ['Microcephaly,_normal_intelligence_and_immunodeficiency'] | TCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTCTCTTTTTTCCTTAAATGCAACTCTTTATCAGGGACAGCAATGTGCCAAGTTTAAAACATTTCCAGACTCTTCTAGATTGAGGATAGAGAGTGGCTA... | TCTTGGATTTCAACAAATGTCACATTAAACTAATTTACCTAGCTCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTCTCTTTTTTCCTTAAATGCAACTCTTTATCAGGGACAGCAATGTGCCAAGTTTAAAACATTTCCAGACTCTTCTAGATTGAGGATAGAGAGTGGCTA... | pathogenic | 136,876 |
Regarding the variant at chromosome 8 and position 89953700, affecting gene NBN (nibrin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTCTCTTTTTTCCTTAAATGCAACTCTTTATCAGGGACAGCAATGTGCCAAGTTTAAAACATTTCCAGACTCTTCTAGATTGAGGATAGAGAGTGGCTAAATTATTTCCAATTCTGGCCAATAACAAAAGCTATTAAGTTGG... | TCTCCACCATAGTAGGAATTGCGACAGAAGTGACTTATAGAACATACAAATCTCTTGTTTCACTTAGTGCATCTGTGAAATGAGAGTAGTCTTAAATCCTTCACAATAAAAAAAAAACCTCTGTCTCTGAACTTCTCACTCTGGCTGCAAAATGGAATCCGATAATTCAACATTCATTCTCTCTTTTTTCCTTAAATGCAACTCTTTATCAGGGACAGCAATGTGCCAAGTTTAAAACATTTCCAGACTCTTCTAGATTGAGGATAGAGAGTGGCTAAATTATTTCCAATTCTGGCCAATAACAAAAGCTATTAAGTTGG... | benign | 136,882 |
Determine if the mutation at chromosome 8, position 89955236 in gene NBN (nibrin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CCTGTTAGCATTCTAAGCTTCTATGTACTATACCTCTCATTTAAAATGTTACTTACAGATATTTTGCTACTTTCTGGTACTGCTTCATCACTGAAAGTGTCATTTGTTTCTATATCCATCCTTGGCCTTTTTCTAACATTGACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGAATAACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAA... | CCTGTTAGCATTCTAAGCTTCTATGTACTATACCTCTCATTTAAAATGTTACTTACAGATATTTTGCTACTTTCTGGTACTGCTTCATCACTGAAAGTGTCATTTGTTTCTATATCCATCCTTGGCCTTTTTCTAACATTGACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGAATAACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAA... | benign | 136,885 |
Determine whether the variant at chromosome 8, position 89955273, in gene NBN (nibrin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | CATTTAAAATGTTACTTACAGATATTTTGCTACTTTCTGGTACTGCTTCATCACTGAAAGTGTCATTTGTTTCTATATCCATCCTTGGCCTTTTTCTAACATTGACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGAATAACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTG... | CATTTAAAATGTTACTTACAGATATTTTGCTACTTTCTGGTACTGCTTCATCACTGAAAGTGTCATTTGTTTCTATATCCATCCTTGGCCTTTTTCTAACATTGACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGAATAACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTG... | pathogenic | 136,886 |
A mutation at chromosome position 89955281 on chromosome 8 in gene NBN (nibrin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | ATGTTACTTACAGATATTTTGCTACTTTCTGGTACTGCTTCATCACTGAAAGTGTCATTTGTTTCTATATCCATCCTTGGCCTTTTTCTAACATTGACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGAATAACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGG... | ATGTTACTTACAGATATTTTGCTACTTTCTGGTACTGCTTCATCACTGAAAGTGTCATTTGTTTCTATATCCATCCTTGGCCTTTTTCTAACATTGACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGAATAACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGG... | pathogenic | 136,888 |
Gene NBN (nibrin) variant at chromosome 8, position 89955283—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | GTTACTTACAGATATTTTGCTACTTTCTGGTACTGCTTCATCACTGAAAGTGTCATTTGTTTCTATATCCATCCTTGGCCTTTTTCTAACATTGACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGAATAACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCT... | GTTACTTACAGATATTTTGCTACTTTCTGGTACTGCTTCATCACTGAAAGTGTCATTTGTTTCTATATCCATCCTTGGCCTTTTTCTAACATTGACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGAATAACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCT... | pathogenic | 136,889 |
Gene mutation in NBN (nibrin) at chromosome 8, position 89955283—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Malignant_lymphoma,_large_B-cell,_diffuse', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | GTTACTTACAGATATTTTGCTACTTTCTGGTACTGCTTCATCACTGAAAGTGTCATTTGTTTCTATATCCATCCTTGGCCTTTTTCTAACATTGACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGAATAACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCT... | GTTACTTACAGATATTTTGCTACTTTCTGGTACTGCTTCATCACTGAAAGTGTCATTTGTTTCTATATCCATCCTTGGCCTTTTTCTAACATTGACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGAATAACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCT... | pathogenic | 136,890 |
A genetic variant at chromosome 8, position 89955313, affecting gene NBN (nibrin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Microcephaly,_normal_intelligence_and_immunodeficiency'] | TACTGCTTCATCACTGAAAGTGTCATTTGTTTCTATATCCATCCTTGGCCTTTTTCTAACATTGACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGAATAACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTT... | TACTGCTTCATCACTGAAAGTGTCATTTGTTTCTATATCCATCCTTGGCCTTTTTCTAACATTGACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGAATAACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTT... | pathogenic | 136,893 |
Does the genetic variant at chromosome 8, position 89955343, impacting gene NBN (nibrin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TTCTATATCCATCCTTGGCCTTTTTCTAACATTGACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGAATAACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTT... | TTCTATATCCATCCTTGGCCTTTTTCTAACATTGACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGAATAACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTT... | pathogenic | 136,900 |
Variant chromosome 8, position 89955347, gene NBN (nibrin): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | ATATCCATCCTTGGCCTTTTTCTAACATTGACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGAATAACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTTGTTC... | ATATCCATCCTTGGCCTTTTTCTAACATTGACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGAATAACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTTGTTC... | pathogenic | 136,902 |
Is the variant located on chromosome 8 at position 89955421, gene NBN (nibrin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TGGTTTTGTGTCCTTGAATAACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTTGTTCTAAAAGAGAACAAGACGTTTCTATTCTTGCTGATTTGCATGAAGACATTTCTTGATTTTCTTCATCCCTTTCCC... | TGGTTTTGTGTCCTTGAATAACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTTGTTCTAAAAGAGAACAAGACGTTTCTATTCTTGCTGATTTGCATGAAGACATTTCTTGATTTTCTTCATCCCTTTCCC... | pathogenic | 136,914 |
Variant at chromosome position 89955444, chromosome 8, gene NBN (nibrin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | GTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTTGTTCTAAAAGAGAACAAGACGTTTCTATTCTTGCTGATTTGCATGAAGACATTTCTTGATTTTCTTCATCCCTTTCCCTTAGATTTAAAAAAAAAGAAGAA... | GTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTTGTTCTAAAAGAGAACAAGACGTTTCTATTCTTGCTGATTTGCATGAAGACATTTCTTGATTTTCTTCATCCCTTTCCCTTAGATTTAAAAAAAAAGAAGAA... | pathogenic | 136,920 |
Determine if the mutation at chromosome 8, position 89955454 in gene NBN (nibrin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome'] | TTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTTGTTCTAAAAGAGAACAAGACGTTTCTATTCTTGCTGATTTGCATGAAGACATTTCTTGATTTTCTTCATCCCTTTCCCTTAGATTTAAAAAAAAAGAAGAAAACAAAACAA... | TTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTTGTTCTAAAAGAGAACAAGACGTTTCTATTCTTGCTGATTTGCATGAAGACATTTCTTGATTTTCTTCATCCCTTTCCCTTAGATTTAAAAAAAAAGAAGAAAACAAAACAA... | pathogenic | 136,922 |
Is the genetic variant on chromosome 8, position 89955454, gene NBN (nibrin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Aplastic_anemia', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTTGTTCTAAAAGAGAACAAGACGTTTCTATTCTTGCTGATTTGCATGAAGACATTTCTTGATTTTCTTCATCCCTTTCCCTTAGATTTAAAAAAAAAGAAGAAAACAAAACAA... | TTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTTGTTCTAAAAGAGAACAAGACGTTTCTATTCTTGCTGATTTGCATGAAGACATTTCTTGATTTTCTTCATCCCTTTCCCTTAGATTTAAAAAAAAAGAAGAAAACAAAACAA... | pathogenic | 136,923 |
Variant in NBN (nibrin), chromosome 8, position 89955524—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTTGTTCTAAAAGAGAACAAGACGTTTCTATTCTTGCTGATTTGCATGAAGACATTTCTTGATTTTCTTCATCCCTTTCCCTTAGATTTAAAAAAAAAGAAGAAAACAAAACAAGAAAATGAACACAGCTAAGTAACCATTTAGTTTGGCAATATTCATCACTCCCTCCATTTAGTTCACAATG... | TTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTTGTTCTAAAAGAGAACAAGACGTTTCTATTCTTGCTGATTTGCATGAAGACATTTCTTGATTTTCTTCATCCCTTTCCCTTAGATTTAAAAAAAAAGAAGAAAACAAAACAAGAAAATGAACACAGCTAAGTAACCATTTAGTTTGGCAATATTCATCACTCCCTCCATTTAGTTCACAATG... | pathogenic | 136,936 |
Clinically, how would you classify the variant at chromosome 8, position 89955524, gene NBN (nibrin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Aplastic_anemia', 'Breast_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTTGTTCTAAAAGAGAACAAGACGTTTCTATTCTTGCTGATTTGCATGAAGACATTTCTTGATTTTCTTCATCCCTTTCCCTTAGATTTAAAAAAAAAGAAGAAAACAAAACAAGAAAATGAACACAGCTAAGTAACCATTTAGTTTGGCAATATTCATCACTCCCTCCATTTAGTTCACAATG... | TTACTGGCAGAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTTGTTCTAAAAGAGAACAAGACGTTTCTATTCTTGCTGATTTGCATGAAGACATTTCTTGATTTTCTTCATCCCTTTCCCTTAGATTTAAAAAAAAAGAAGAAAACAAAACAAGAAAATGAACACAGCTAAGTAACCATTTAGTTTGGCAATATTCATCACTCCCTCCATTTAGTTCACAATG... | pathogenic | 136,937 |
A genetic alteration at chromosome 8, position 89955533, in gene NBN (nibrin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | GAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTTGTTCTAAAAGAGAACAAGACGTTTCTATTCTTGCTGATTTGCATGAAGACATTTCTTGATTTTCTTCATCCCTTTCCCTTAGATTTAAAAAAAAAGAAGAAAACAAAACAAGAAAATGAACACAGCTAAGTAACCATTTAGTTTGGCAATATTCATCACTCCCTCCATTTAGTTCACAATGTACTCTTGA... | GAATTTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTTGTTCTAAAAGAGAACAAGACGTTTCTATTCTTGCTGATTTGCATGAAGACATTTCTTGATTTTCTTCATCCCTTTCCCTTAGATTTAAAAAAAAAGAAGAAAACAAAACAAGAAAATGAACACAGCTAAGTAACCATTTAGTTTGGCAATATTCATCACTCCCTCCATTTAGTTCACAATGTACTCTTGA... | pathogenic | 136,939 |
Does the variant on chromosome 8 at location 89955537 affecting gene NBN (nibrin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency', 'NBN-related_disorder'] | TTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTTGTTCTAAAAGAGAACAAGACGTTTCTATTCTTGCTGATTTGCATGAAGACATTTCTTGATTTTCTTCATCCCTTTCCCTTAGATTTAAAAAAAAAGAAGAAAACAAAACAAGAAAATGAACACAGCTAAGTAACCATTTAGTTTGGCAATATTCATCACTCCCTCCATTTAGTTCACAATGTACTCTTGATTTT... | TTTTCACAATAGATTTTAAATCTGTATCTGTAAATAAGTTATTGTCTGAGTTTGTGTCCACAGGCTCATTCTCAGATAGATGCTGCTCCTTATTTTTCCACAATGAGGGTGTAGCAGGTTGTGTTTGTTCTAAAAGAGAACAAGACGTTTCTATTCTTGCTGATTTGCATGAAGACATTTCTTGATTTTCTTCATCCCTTTCCCTTAGATTTAAAAAAAAAGAAGAAAACAAAACAAGAAAATGAACACAGCTAAGTAACCATTTAGTTTGGCAATATTCATCACTCCCTCCATTTAGTTCACAATGTACTCTTGATTTT... | pathogenic | 136,941 |
Gene NBN (nibrin) variant at chromosome position 89958711 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TCATCCATGTACATTTGCAAGGAATAAAAAAACTATCCTAAGACAGGAGTTGCCAAACTACAGCCTGTAGGCCAAATCTGATCTGCCACTTATTTTTATAAACACAGTTATTAGAACACAACACTTTCAATTACAGTCACAGACACTATATAATGATATTTCTGTCAACAATGGACTGCAACATATGATGCTGGTCCCATAAGATTATAAAGGAGCTGAAAAATTGCTATCACCTATTGACAGCACAGTGCAACCTATTAAGTGTCTATGGTGATGTTGATGTAAACAAACCTATGCTGCCAATTGTATAAAAGTATAGC... | TCATCCATGTACATTTGCAAGGAATAAAAAAACTATCCTAAGACAGGAGTTGCCAAACTACAGCCTGTAGGCCAAATCTGATCTGCCACTTATTTTTATAAACACAGTTATTAGAACACAACACTTTCAATTACAGTCACAGACACTATATAATGATATTTCTGTCAACAATGGACTGCAACATATGATGCTGGTCCCATAAGATTATAAAGGAGCTGAAAAATTGCTATCACCTATTGACAGCACAGTGCAACCTATTAAGTGTCTATGGTGATGTTGATGTAAACAAACCTATGCTGCCAATTGTATAAAAGTATAGC... | benign | 136,949 |
Variant in NBN (nibrin), chromosome 8, position 89958809—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TAAACACAGTTATTAGAACACAACACTTTCAATTACAGTCACAGACACTATATAATGATATTTCTGTCAACAATGGACTGCAACATATGATGCTGGTCCCATAAGATTATAAAGGAGCTGAAAAATTGCTATCACCTATTGACAGCACAGTGCAACCTATTAAGTGTCTATGGTGATGTTGATGTAAACAAACCTATGCTGCCAATTGTATAAAAGTATAGCACAACAGCACATACAATTCGGTACAATACATAATACTTGATAATGATAATAAATGACTATGTTACTGGTTAATGTATTTACTATATTATACTTTTTAT... | TAAACACAGTTATTAGAACACAACACTTTCAATTACAGTCACAGACACTATATAATGATATTTCTGTCAACAATGGACTGCAACATATGATGCTGGTCCCATAAGATTATAAAGGAGCTGAAAAATTGCTATCACCTATTGACAGCACAGTGCAACCTATTAAGTGTCTATGGTGATGTTGATGTAAACAAACCTATGCTGCCAATTGTATAAAAGTATAGCACAACAGCACATACAATTCGGTACAATACATAATACTTGATAATGATAATAAATGACTATGTTACTGGTTAATGTATTTACTATATTATACTTTTTAT... | pathogenic | 136,972 |
Is chromosome 8, position 89958819, gene NBN (nibrin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Acute_lymphoid_leukemia', 'Aplastic_anemia', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | TATTAGAACACAACACTTTCAATTACAGTCACAGACACTATATAATGATATTTCTGTCAACAATGGACTGCAACATATGATGCTGGTCCCATAAGATTATAAAGGAGCTGAAAAATTGCTATCACCTATTGACAGCACAGTGCAACCTATTAAGTGTCTATGGTGATGTTGATGTAAACAAACCTATGCTGCCAATTGTATAAAAGTATAGCACAACAGCACATACAATTCGGTACAATACATAATACTTGATAATGATAATAAATGACTATGTTACTGGTTAATGTATTTACTATATTATACTTTTTATCATTAGAATG... | TATTAGAACACAACACTTTCAATTACAGTCACAGACACTATATAATGATATTTCTGTCAACAATGGACTGCAACATATGATGCTGGTCCCATAAGATTATAAAGGAGCTGAAAAATTGCTATCACCTATTGACAGCACAGTGCAACCTATTAAGTGTCTATGGTGATGTTGATGTAAACAAACCTATGCTGCCAATTGTATAAAAGTATAGCACAACAGCACATACAATTCGGTACAATACATAATACTTGATAATGATAATAAATGACTATGTTACTGGTTAATGTATTTACTATATTATACTTTTTATCATTAGAATG... | pathogenic | 136,976 |
The mutation impacting NBN (nibrin) on chromosome 8 at position 89958851: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AGACACTATATAATGATATTTCTGTCAACAATGGACTGCAACATATGATGCTGGTCCCATAAGATTATAAAGGAGCTGAAAAATTGCTATCACCTATTGACAGCACAGTGCAACCTATTAAGTGTCTATGGTGATGTTGATGTAAACAAACCTATGCTGCCAATTGTATAAAAGTATAGCACAACAGCACATACAATTCGGTACAATACATAATACTTGATAATGATAATAAATGACTATGTTACTGGTTAATGTATTTACTATATTATACTTTTTATCATTAGAATGTACTCCTTCTTATAAAAAAAATAACTTTAAAA... | AGACACTATATAATGATATTTCTGTCAACAATGGACTGCAACATATGATGCTGGTCCCATAAGATTATAAAGGAGCTGAAAAATTGCTATCACCTATTGACAGCACAGTGCAACCTATTAAGTGTCTATGGTGATGTTGATGTAAACAAACCTATGCTGCCAATTGTATAAAAGTATAGCACAACAGCACATACAATTCGGTACAATACATAATACTTGATAATGATAATAAATGACTATGTTACTGGTTAATGTATTTACTATATTATACTTTTTATCATTAGAATGTACTCCTTCTTATAAAAAAAATAACTTTAAAA... | pathogenic | 136,981 |
Variant on chromosome 8, at position 89964429, affecting NBN (nibrin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Aplastic_anemia', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AGTCTAAAATTACTGATACTGATCTTTTTTCTGTAAGAGAACAGAAATCTATCAACAAAATAATATCTACAGCACCTGCTAGTTCTAAAAGTTGAGCATATTTCTAGTAGACAAGGAAGCAGTAGTTTCTCCAAGAATATGGCTCTCTTTGGCATCCACATTTAAAAAGTTCCCTTGCCAAGAGCCTGAAGAGTTGGTCTTTAGCTTTTTACTTTATGGATGAATTCTGGGAATTTGGTGAAAATATTAATCATATCACGATTCCACCAAAATAAGTGATTTGGTTATATTTAAAACTTCACAAGAACTTACGACTGTGT... | AGTCTAAAATTACTGATACTGATCTTTTTTCTGTAAGAGAACAGAAATCTATCAACAAAATAATATCTACAGCACCTGCTAGTTCTAAAAGTTGAGCATATTTCTAGTAGACAAGGAAGCAGTAGTTTCTCCAAGAATATGGCTCTCTTTGGCATCCACATTTAAAAAGTTCCCTTGCCAAGAGCCTGAAGAGTTGGTCTTTAGCTTTTTACTTTATGGATGAATTCTGGGAATTTGGTGAAAATATTAATCATATCACGATTCCACCAAAATAAGTGATTTGGTTATATTTAAAACTTCACAAGAACTTACGACTGTGT... | pathogenic | 136,993 |
Mutation at chromosome 8, position 89964436, within NBN (nibrin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Aplastic_anemia', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AATTACTGATACTGATCTTTTTTCTGTAAGAGAACAGAAATCTATCAACAAAATAATATCTACAGCACCTGCTAGTTCTAAAAGTTGAGCATATTTCTAGTAGACAAGGAAGCAGTAGTTTCTCCAAGAATATGGCTCTCTTTGGCATCCACATTTAAAAAGTTCCCTTGCCAAGAGCCTGAAGAGTTGGTCTTTAGCTTTTTACTTTATGGATGAATTCTGGGAATTTGGTGAAAATATTAATCATATCACGATTCCACCAAAATAAGTGATTTGGTTATATTTAAAACTTCACAAGAACTTACGACTGTGTGTATTTG... | AATTACTGATACTGATCTTTTTTCTGTAAGAGAACAGAAATCTATCAACAAAATAATATCTACAGCACCTGCTAGTTCTAAAAGTTGAGCATATTTCTAGTAGACAAGGAAGCAGTAGTTTCTCCAAGAATATGGCTCTCTTTGGCATCCACATTTAAAAAGTTCCCTTGCCAAGAGCCTGAAGAGTTGGTCTTTAGCTTTTTACTTTATGGATGAATTCTGGGAATTTGGTGAAAATATTAATCATATCACGATTCCACCAAAATAAGTGATTTGGTTATATTTAAAACTTCACAAGAACTTACGACTGTGTGTATTTG... | pathogenic | 136,995 |
Variant chromosome 8, position 89964447, gene NBN (nibrin): benign or pathogenic? Disease(s)? | pathogenic; ['Microcephaly,_normal_intelligence_and_immunodeficiency'] | CTGATCTTTTTTCTGTAAGAGAACAGAAATCTATCAACAAAATAATATCTACAGCACCTGCTAGTTCTAAAAGTTGAGCATATTTCTAGTAGACAAGGAAGCAGTAGTTTCTCCAAGAATATGGCTCTCTTTGGCATCCACATTTAAAAAGTTCCCTTGCCAAGAGCCTGAAGAGTTGGTCTTTAGCTTTTTACTTTATGGATGAATTCTGGGAATTTGGTGAAAATATTAATCATATCACGATTCCACCAAAATAAGTGATTTGGTTATATTTAAAACTTCACAAGAACTTACGACTGTGTGTATTTGAAGGTTACCTA... | CTGATCTTTTTTCTGTAAGAGAACAGAAATCTATCAACAAAATAATATCTACAGCACCTGCTAGTTCTAAAAGTTGAGCATATTTCTAGTAGACAAGGAAGCAGTAGTTTCTCCAAGAATATGGCTCTCTTTGGCATCCACATTTAAAAAGTTCCCTTGCCAAGAGCCTGAAGAGTTGGTCTTTAGCTTTTTACTTTATGGATGAATTCTGGGAATTTGGTGAAAATATTAATCATATCACGATTCCACCAAAATAAGTGATTTGGTTATATTTAAAACTTCACAAGAACTTACGACTGTGTGTATTTGAAGGTTACCTA... | pathogenic | 136,999 |
The mutation impacting NBN (nibrin) on chromosome 8 at position 89964479: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | ATCAACAAAATAATATCTACAGCACCTGCTAGTTCTAAAAGTTGAGCATATTTCTAGTAGACAAGGAAGCAGTAGTTTCTCCAAGAATATGGCTCTCTTTGGCATCCACATTTAAAAAGTTCCCTTGCCAAGAGCCTGAAGAGTTGGTCTTTAGCTTTTTACTTTATGGATGAATTCTGGGAATTTGGTGAAAATATTAATCATATCACGATTCCACCAAAATAAGTGATTTGGTTATATTTAAAACTTCACAAGAACTTACGACTGTGTGTATTTGAAGGTTACCTATGTACAGACACAAACATATGTAGTATACTCAA... | ATCAACAAAATAATATCTACAGCACCTGCTAGTTCTAAAAGTTGAGCATATTTCTAGTAGACAAGGAAGCAGTAGTTTCTCCAAGAATATGGCTCTCTTTGGCATCCACATTTAAAAAGTTCCCTTGCCAAGAGCCTGAAGAGTTGGTCTTTAGCTTTTTACTTTATGGATGAATTCTGGGAATTTGGTGAAAATATTAATCATATCACGATTCCACCAAAATAAGTGATTTGGTTATATTTAAAACTTCACAAGAACTTACGACTGTGTGTATTTGAAGGTTACCTATGTACAGACACAAACATATGTAGTATACTCAA... | pathogenic | 137,008 |
The mutation impacting NBN (nibrin) on chromosome 8 at position 89964486: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AAATAATATCTACAGCACCTGCTAGTTCTAAAAGTTGAGCATATTTCTAGTAGACAAGGAAGCAGTAGTTTCTCCAAGAATATGGCTCTCTTTGGCATCCACATTTAAAAAGTTCCCTTGCCAAGAGCCTGAAGAGTTGGTCTTTAGCTTTTTACTTTATGGATGAATTCTGGGAATTTGGTGAAAATATTAATCATATCACGATTCCACCAAAATAAGTGATTTGGTTATATTTAAAACTTCACAAGAACTTACGACTGTGTGTATTTGAAGGTTACCTATGTACAGACACAAACATATGTAGTATACTCAATGGGACA... | AAATAATATCTACAGCACCTGCTAGTTCTAAAAGTTGAGCATATTTCTAGTAGACAAGGAAGCAGTAGTTTCTCCAAGAATATGGCTCTCTTTGGCATCCACATTTAAAAAGTTCCCTTGCCAAGAGCCTGAAGAGTTGGTCTTTAGCTTTTTACTTTATGGATGAATTCTGGGAATTTGGTGAAAATATTAATCATATCACGATTCCACCAAAATAAGTGATTTGGTTATATTTAAAACTTCACAAGAACTTACGACTGTGTGTATTTGAAGGTTACCTATGTACAGACACAAACATATGTAGTATACTCAATGGGACA... | pathogenic | 137,010 |
The chromosome 8, position 89970334 genetic variant in gene NBN (nibrin): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TGTAACAGGGGCCAAGTGTCACCTCATGATCAAGGCACCAGGGTCTGAGCTACCTGGTACTCCAGCTACTTTTTTTTAACCTCAGGGTGTCAATATGTGCTGAAAGTAAAGAGCCTGGACTCCAGAATCCAACTGCCTGGGCTCACATCCTGGCCACCCTGCTCACTGCCTCTGCTATATGCAAACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTA... | TGTAACAGGGGCCAAGTGTCACCTCATGATCAAGGCACCAGGGTCTGAGCTACCTGGTACTCCAGCTACTTTTTTTTAACCTCAGGGTGTCAATATGTGCTGAAAGTAAAGAGCCTGGACTCCAGAATCCAACTGCCTGGGCTCACATCCTGGCCACCCTGCTCACTGCCTCTGCTATATGCAAACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTA... | benign | 137,017 |
Does the genetic variant at chromosome 8, position 89970353, impacting gene NBN (nibrin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CACCTCATGATCAAGGCACCAGGGTCTGAGCTACCTGGTACTCCAGCTACTTTTTTTTAACCTCAGGGTGTCAATATGTGCTGAAAGTAAAGAGCCTGGACTCCAGAATCCAACTGCCTGGGCTCACATCCTGGCCACCCTGCTCACTGCCTCTGCTATATGCAAACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCT... | CACCTCATGATCAAGGCACCAGGGTCTGAGCTACCTGGTACTCCAGCTACTTTTTTTTAACCTCAGGGTGTCAATATGTGCTGAAAGTAAAGAGCCTGGACTCCAGAATCCAACTGCCTGGGCTCACATCCTGGCCACCCTGCTCACTGCCTCTGCTATATGCAAACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCT... | benign | 137,021 |
A genetic alteration at chromosome 8, position 89970387, in gene NBN (nibrin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Aplastic_anemia', 'Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency', 'NBN-related_disorder'] | CTGGTACTCCAGCTACTTTTTTTTAACCTCAGGGTGTCAATATGTGCTGAAAGTAAAGAGCCTGGACTCCAGAATCCAACTGCCTGGGCTCACATCCTGGCCACCCTGCTCACTGCCTCTGCTATATGCAAACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAA... | CTGGTACTCCAGCTACTTTTTTTTAACCTCAGGGTGTCAATATGTGCTGAAAGTAAAGAGCCTGGACTCCAGAATCCAACTGCCTGGGCTCACATCCTGGCCACCCTGCTCACTGCCTCTGCTATATGCAAACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAA... | pathogenic | 137,025 |
Considering the variant on chromosome 8, location 89970411, involving gene NBN (nibrin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Microcephaly,_normal_intelligence_and_immunodeficiency'] | AACCTCAGGGTGTCAATATGTGCTGAAAGTAAAGAGCCTGGACTCCAGAATCCAACTGCCTGGGCTCACATCCTGGCCACCCTGCTCACTGCCTCTGCTATATGCAAACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAAAACTGGTCATAGGTAAGACATTGC... | AACCTCAGGGTGTCAATATGTGCTGAAAGTAAAGAGCCTGGACTCCAGAATCCAACTGCCTGGGCTCACATCCTGGCCACCCTGCTCACTGCCTCTGCTATATGCAAACCCCCTTCTGCCTCAGTTCCCTCATCTGCACAGTGAGGACCACAACAGTAAATAATATATAGGTTGAGGATTAAATGTTTATACATACATAAATTCTTAGACCAGAACCTGCTATGTAGGATAATTTTTTTTTTAATGTATTACTGCTGTTGCTCTGCTTGGCACATTCTTTGTCTGGCTCTTTGAAAAACTGGTCATAGGTAAGACATTGC... | pathogenic | 137,029 |
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