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 |
|---|---|---|---|---|---|
Mutation at chromosome 21, position 33551477, within SON (SON DNA and RNA binding protein): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CTCTACTTTGGGGAATGTCTGACAAAATTAATTTCTATTACTTTTAGACTTGAAAGAGGGCTCCAGAAAAAGTAGATGCGTATCTGTACAAACAGATCCTACTGATGAAATTCCCACTAAAAAGTCAAAGAAGCATAAAAAGCACAAAAACAAAAAGAAGAAAAAGAAGAAAGAAAAGGAAAAAAAATATAAAAGACAGCCAGAAGAATCTGAGTCAAAGACGAAATCTCATGATGATGGGAACATAGATTTAGAATCTGATTCCTTTTTAAAGTTTGATTCTGAACCTTCAGCTGTGGCGCTGGAGCTTCCTACAAGAG... | CTCTACTTTGGGGAATGTCTGACAAAATTAATTTCTATTACTTTTAGACTTGAAAGAGGGCTCCAGAAAAAGTAGATGCGTATCTGTACAAACAGATCCTACTGATGAAATTCCCACTAAAAAGTCAAAGAAGCATAAAAAGCACAAAAACAAAAAGAAGAAAAAGAAGAAAGAAAAGGAAAAAAAATATAAAAGACAGCCAGAAGAATCTGAGTCAAAGACGAAATCTCATGATGATGGGAACATAGATTTAGAATCTGATTCCTTTTTAAAGTTTGATTCTGAACCTTCAGCTGTGGCGCTGGAGCTTCCTACAAGAG... | benign | 317,724 |
A genetic alteration at chromosome 21, position 33552303, in gene SON (SON DNA and RNA binding protein)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Failure_to_thrive', 'Global_developmental_delay', 'ZTTK_syndrome'] | CAGCCTGTAGACGTACCATCGGAGATTGCAGATTCATCCATGACAAGACCGCAGGAGTTGCCGGAGCTGCCTAAGACCACAGCGTTGGAGCTGCAGGAGTCGTCGGTGGCCTCAGCGATGGAGTTGCCGGGGCCACCTGCGACCTCCATGCCGGAGTTGCAGGGGCCCCCTGTGACTCCAGTGCTGGAGTTACCTGGGCCCTCTGCTACCCCGGTGCCAGAGTTGCCAGGGCCCCTTTCTACCCCAGTGCCTGAGTTGCCAGGGCCCCCTGCGACAGCAGTGCCTGAGTTGCCAGGGCCCTCTGTGACACCAGTGCCACA... | CAGCCTGTAGACGTACCATCGGAGATTGCAGATTCATCCATGACAAGACCGCAGGAGTTGCCGGAGCTGCCTAAGACCACAGCGTTGGAGCTGCAGGAGTCGTCGGTGGCCTCAGCGATGGAGTTGCCGGGGCCACCTGCGACCTCCATGCCGGAGTTGCAGGGGCCCCCTGTGACTCCAGTGCTGGAGTTACCTGGGCCCTCTGCTACCCCGGTGCCAGAGTTGCCAGGGCCCCTTTCTACCCCAGTGCCTGAGTTGCCAGGGCCCCCTGCGACAGCAGTGCCTGAGTTGCCAGGGCCCTCTGTGACACCAGTGCCACA... | pathogenic | 317,740 |
The mutation impacting SON (SON DNA and RNA binding protein) on chromosome 21 at position 33552321: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCGGAGATTGCAGATTCATCCATGACAAGACCGCAGGAGTTGCCGGAGCTGCCTAAGACCACAGCGTTGGAGCTGCAGGAGTCGTCGGTGGCCTCAGCGATGGAGTTGCCGGGGCCACCTGCGACCTCCATGCCGGAGTTGCAGGGGCCCCCTGTGACTCCAGTGCTGGAGTTACCTGGGCCCTCTGCTACCCCGGTGCCAGAGTTGCCAGGGCCCCTTTCTACCCCAGTGCCTGAGTTGCCAGGGCCCCCTGCGACAGCAGTGCCTGAGTTGCCAGGGCCCTCTGTGACACCAGTGCCACAGTTGTCGCAGGAATTGCC... | TCGGAGATTGCAGATTCATCCATGACAAGACCGCAGGAGTTGCCGGAGCTGCCTAAGACCACAGCGTTGGAGCTGCAGGAGTCGTCGGTGGCCTCAGCGATGGAGTTGCCGGGGCCACCTGCGACCTCCATGCCGGAGTTGCAGGGGCCCCCTGTGACTCCAGTGCTGGAGTTACCTGGGCCCTCTGCTACCCCGGTGCCAGAGTTGCCAGGGCCCCTTTCTACCCCAGTGCCTGAGTTGCCAGGGCCCCCTGCGACAGCAGTGCCTGAGTTGCCAGGGCCCTCTGTGACACCAGTGCCACAGTTGTCGCAGGAATTGCC... | benign | 317,741 |
Determine whether the variant at chromosome 21, position 33552917, in gene SON (SON DNA and RNA binding protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GGAGTTGCCAGGACAGCCAGTGGCAACGACAGCGCTGGAGTTGCCGGGGCAGCCTTCGGTGACTGGGGTGCCAGAGTTGCCAGGGCTGCCTTCGGCAACTAGGGCACTGGAGTTGTCGGGGCAGCCTGTGGCAACTGGGGCACTAGAGTTGCCTGGGCCGCTCATGGCAGCTGGGGCACTGGAGTTCTCGGGGCAGTCTGGGGCAGCTGGAGCACTGGAGCTTTTGGGGCAGCCTCTGGCAACAGGGGTGCTGGAGTTGCCAGGGCAGCCTGGGGCGCCAGAGTTGCCTGGGCAGCCTGTGGCAACTGTGGCGCTGGAGA... | GGAGTTGCCAGGACAGCCAGTGGCAACGACAGCGCTGGAGTTGCCGGGGCAGCCTTCGGTGACTGGGGTGCCAGAGTTGCCAGGGCTGCCTTCGGCAACTAGGGCACTGGAGTTGTCGGGGCAGCCTGTGGCAACTGGGGCACTAGAGTTGCCTGGGCCGCTCATGGCAGCTGGGGCACTGGAGTTCTCGGGGCAGTCTGGGGCAGCTGGAGCACTGGAGCTTTTGGGGCAGCCTCTGGCAACAGGGGTGCTGGAGTTGCCAGGGCAGCCTGGGGCGCCAGAGTTGCCTGGGCAGCCTGTGGCAACTGTGGCGCTGGAGA... | benign | 317,755 |
Mutation found at chromosome 21 position 33553037, gene SON (SON DNA and RNA binding protein): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GCAGCCTGTGGCAACTGGGGCACTAGAGTTGCCTGGGCCGCTCATGGCAGCTGGGGCACTGGAGTTCTCGGGGCAGTCTGGGGCAGCTGGAGCACTGGAGCTTTTGGGGCAGCCTCTGGCAACAGGGGTGCTGGAGTTGCCAGGGCAGCCTGGGGCGCCAGAGTTGCCTGGGCAGCCTGTGGCAACTGTGGCGCTGGAGATCTCTGTTCAGTCTGTGGTGACAACATCGGAGCTGTCAACGATGACCGTGTCGCAGTCCCTGGAGGTGCCCTCGACGACAGCGCTGGAATCCTATAATACGGTAGCACAGGAGCTGCCTA... | GCAGCCTGTGGCAACTGGGGCACTAGAGTTGCCTGGGCCGCTCATGGCAGCTGGGGCACTGGAGTTCTCGGGGCAGTCTGGGGCAGCTGGAGCACTGGAGCTTTTGGGGCAGCCTCTGGCAACAGGGGTGCTGGAGTTGCCAGGGCAGCCTGGGGCGCCAGAGTTGCCTGGGCAGCCTGTGGCAACTGTGGCGCTGGAGATCTCTGTTCAGTCTGTGGTGACAACATCGGAGCTGTCAACGATGACCGTGTCGCAGTCCCTGGAGGTGCCCTCGACGACAGCGCTGGAATCCTATAATACGGTAGCACAGGAGCTGCCTA... | benign | 317,759 |
Mutation at chromosome 21, position 33553078, within SON (SON DNA and RNA binding protein): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Failure_to_thrive', 'Global_developmental_delay', 'ZTTK_syndrome'] | TCATGGCAGCTGGGGCACTGGAGTTCTCGGGGCAGTCTGGGGCAGCTGGAGCACTGGAGCTTTTGGGGCAGCCTCTGGCAACAGGGGTGCTGGAGTTGCCAGGGCAGCCTGGGGCGCCAGAGTTGCCTGGGCAGCCTGTGGCAACTGTGGCGCTGGAGATCTCTGTTCAGTCTGTGGTGACAACATCGGAGCTGTCAACGATGACCGTGTCGCAGTCCCTGGAGGTGCCCTCGACGACAGCGCTGGAATCCTATAATACGGTAGCACAGGAGCTGCCTACTACATTAGTGGGGGAGACTTCTGTAACAGTAGGAGTGGAT... | TCATGGCAGCTGGGGCACTGGAGTTCTCGGGGCAGTCTGGGGCAGCTGGAGCACTGGAGCTTTTGGGGCAGCCTCTGGCAACAGGGGTGCTGGAGTTGCCAGGGCAGCCTGGGGCGCCAGAGTTGCCTGGGCAGCCTGTGGCAACTGTGGCGCTGGAGATCTCTGTTCAGTCTGTGGTGACAACATCGGAGCTGTCAACGATGACCGTGTCGCAGTCCCTGGAGGTGCCCTCGACGACAGCGCTGGAATCCTATAATACGGTAGCACAGGAGCTGCCTACTACATTAGTGGGGGAGACTTCTGTAACAGTAGGAGTGGAT... | pathogenic | 317,760 |
Considering the genetic mutation at chromosome 21, position 33553305, impacting SON (SON DNA and RNA binding protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CCCTCGACGACAGCGCTGGAATCCTATAATACGGTAGCACAGGAGCTGCCTACTACATTAGTGGGGGAGACTTCTGTAACAGTAGGAGTGGATCCCTTGATGGCCCCAGAATCCCATATATTAGCTTCTAACACCATGGAGACCCATATATTAGCATCCAACACCATGGACTCCCAAATGCTAGCGTCCAACACCATGGACTCCCAGATGCTAGCATCCAACACCATGGACTCCCAGATGTTAGCGTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGA... | CCCTCGACGACAGCGCTGGAATCCTATAATACGGTAGCACAGGAGCTGCCTACTACATTAGTGGGGGAGACTTCTGTAACAGTAGGAGTGGATCCCTTGATGGCCCCAGAATCCCATATATTAGCTTCTAACACCATGGAGACCCATATATTAGCATCCAACACCATGGACTCCCAAATGCTAGCGTCCAACACCATGGACTCCCAGATGCTAGCATCCAACACCATGGACTCCCAGATGTTAGCGTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGA... | benign | 317,765 |
Clinical impact (benign or pathogenic) of the variant at chromosome 21, location 33553329, gene SON (SON DNA and RNA binding protein): what disease(s) if pathogenic? | benign | TATAATACGGTAGCACAGGAGCTGCCTACTACATTAGTGGGGGAGACTTCTGTAACAGTAGGAGTGGATCCCTTGATGGCCCCAGAATCCCATATATTAGCTTCTAACACCATGGAGACCCATATATTAGCATCCAACACCATGGACTCCCAAATGCTAGCGTCCAACACCATGGACTCCCAGATGCTAGCATCCAACACCATGGACTCCCAGATGTTAGCGTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCAC... | TATAATACGGTAGCACAGGAGCTGCCTACTACATTAGTGGGGGAGACTTCTGTAACAGTAGGAGTGGATCCCTTGATGGCCCCAGAATCCCATATATTAGCTTCTAACACCATGGAGACCCATATATTAGCATCCAACACCATGGACTCCCAAATGCTAGCGTCCAACACCATGGACTCCCAGATGCTAGCATCCAACACCATGGACTCCCAGATGTTAGCGTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCAC... | benign | 317,766 |
Evaluate if the mutation on chromosome 21 at position 33553350 in SON (SON DNA and RNA binding protein) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CTGCCTACTACATTAGTGGGGGAGACTTCTGTAACAGTAGGAGTGGATCCCTTGATGGCCCCAGAATCCCATATATTAGCTTCTAACACCATGGAGACCCATATATTAGCATCCAACACCATGGACTCCCAAATGCTAGCGTCCAACACCATGGACTCCCAGATGCTAGCATCCAACACCATGGACTCCCAGATGTTAGCGTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCACTATGGACTCCCAGATGTTAGC... | CTGCCTACTACATTAGTGGGGGAGACTTCTGTAACAGTAGGAGTGGATCCCTTGATGGCCCCAGAATCCCATATATTAGCTTCTAACACCATGGAGACCCATATATTAGCATCCAACACCATGGACTCCCAAATGCTAGCGTCCAACACCATGGACTCCCAGATGCTAGCATCCAACACCATGGACTCCCAGATGTTAGCGTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCACTATGGACTCCCAGATGTTAGC... | benign | 317,768 |
Clinical significance of chromosome 21, position 33554005, gene SON (SON DNA and RNA binding protein): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases'] | AATCTCCTGATCCCTATAGGTTAGCTCAGGATCCTTACAGGTTAGCTCAGGATCCCTATAGGTTGGGCCATGACCCCTATAGATTAGGTCATGATGCTTACAGGTTAGGACAAGACCCTTATAGATTAGGCCATGATCCCTACAGACTAACTCCTGATCCCTATAGGATGTCACCTAGACCCTACAGGATAGCACCCAGGTCCTATAGAATAGCACCCAGGCCATATAGGTTAGCACCTAGACCCCTGATGTTAGCATCTAGACGTTCTATGATGATGTCCTATGCTGCAGAACGTTCCATGATGTCATCTTACGAACGC... | AATCTCCTGATCCCTATAGGTTAGCTCAGGATCCTTACAGGTTAGCTCAGGATCCCTATAGGTTGGGCCATGACCCCTATAGATTAGGTCATGATGCTTACAGGTTAGGACAAGACCCTTATAGATTAGGCCATGATCCCTACAGACTAACTCCTGATCCCTATAGGATGTCACCTAGACCCTACAGGATAGCACCCAGGTCCTATAGAATAGCACCCAGGCCATATAGGTTAGCACCTAGACCCCTGATGTTAGCATCTAGACGTTCTATGATGATGTCCTATGCTGCAGAACGTTCCATGATGTCATCTTACGAACGC... | pathogenic | 317,784 |
A genetic variant at chromosome 21, position 33554125, affecting gene SON (SON DNA and RNA binding protein)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['ZTTK_syndrome'] | ATAGATTAGGCCATGATCCCTACAGACTAACTCCTGATCCCTATAGGATGTCACCTAGACCCTACAGGATAGCACCCAGGTCCTATAGAATAGCACCCAGGCCATATAGGTTAGCACCTAGACCCCTGATGTTAGCATCTAGACGTTCTATGATGATGTCCTATGCTGCAGAACGTTCCATGATGTCATCTTACGAACGCTCTATGATGTCTTATGAGCGGTCTATGATGTCCCCTATGGCTGAACGCTCTATGATGTCAGCCTACGAGCGCTCTATGATGTCAGCCTACGAGCGCTCTATGATGTCCCCTATGGCTGAG... | ATAGATTAGGCCATGATCCCTACAGACTAACTCCTGATCCCTATAGGATGTCACCTAGACCCTACAGGATAGCACCCAGGTCCTATAGAATAGCACCCAGGCCATATAGGTTAGCACCTAGACCCCTGATGTTAGCATCTAGACGTTCTATGATGATGTCCTATGCTGCAGAACGTTCCATGATGTCATCTTACGAACGCTCTATGATGTCTTATGAGCGGTCTATGATGTCCCCTATGGCTGAACGCTCTATGATGTCAGCCTACGAGCGCTCTATGATGTCAGCCTACGAGCGCTCTATGATGTCCCCTATGGCTGAG... | pathogenic | 317,788 |
Clinical classification of chromosome 21, position 33554891, gene SON (SON DNA and RNA binding protein): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; [, 'ZTTK_syndrome'] | TGAAGAGTCTGTATCGCAGCCTGAGCCTCCTGTGAGTCAAAGTGAGATTTCGGAGCCTTCAGCAGTGCCTACTGATTATTCAGTGTCAGCATCAGATCCCTCAGTTTTAGTATCAGAGGCTGCTGTGACTGTTCCAGAACCACCACCAGAGCCAGAATCTTCAATTACGTTAACACCTGTAGAGTCTGCAGTAGTAGCAGAAGAACATGAAGTTGTTCCAGAGAGACCAGTGACTTGTATGGTATCTGAAACTCCCGCCATGTCAGCTGAACCAACTGTGTTAGCATCAGAGCCTCCTGTTATGTCAGAGACAGCAGAAA... | TGAAGAGTCTGTATCGCAGCCTGAGCCTCCTGTGAGTCAAAGTGAGATTTCGGAGCCTTCAGCAGTGCCTACTGATTATTCAGTGTCAGCATCAGATCCCTCAGTTTTAGTATCAGAGGCTGCTGTGACTGTTCCAGAACCACCACCAGAGCCAGAATCTTCAATTACGTTAACACCTGTAGAGTCTGCAGTAGTAGCAGAAGAACATGAAGTTGTTCCAGAGAGACCAGTGACTTGTATGGTATCTGAAACTCCCGCCATGTCAGCTGAACCAACTGTGTTAGCATCAGAGCCTCCTGTTATGTCAGAGACAGCAGAAA... | pathogenic | 317,799 |
Does the genetic variant at chromosome 21, position 33554944, impacting gene SON (SON DNA and RNA binding protein), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'ZTTK_syndrome'] | AGCCTTCAGCAGTGCCTACTGATTATTCAGTGTCAGCATCAGATCCCTCAGTTTTAGTATCAGAGGCTGCTGTGACTGTTCCAGAACCACCACCAGAGCCAGAATCTTCAATTACGTTAACACCTGTAGAGTCTGCAGTAGTAGCAGAAGAACATGAAGTTGTTCCAGAGAGACCAGTGACTTGTATGGTATCTGAAACTCCCGCCATGTCAGCTGAACCAACTGTGTTAGCATCAGAGCCTCCTGTTATGTCAGAGACAGCAGAAACATTTGATTCCATGAGAGCCTCAGGACATGTTGCCTCAGAAGTATCTACATCC... | AGCCTTCAGCAGTGCCTACTGATTATTCAGTGTCAGCATCAGATCCCTCAGTTTTAGTATCAGAGGCTGCTGTGACTGTTCCAGAACCACCACCAGAGCCAGAATCTTCAATTACGTTAACACCTGTAGAGTCTGCAGTAGTAGCAGAAGAACATGAAGTTGTTCCAGAGAGACCAGTGACTTGTATGGTATCTGAAACTCCCGCCATGTCAGCTGAACCAACTGTGTTAGCATCAGAGCCTCCTGTTATGTCAGAGACAGCAGAAACATTTGATTCCATGAGAGCCTCAGGACATGTTGCCTCAGAAGTATCTACATCC... | pathogenic | 317,800 |
Variant at chromosome 21, position 33554981, gene SON (SON DNA and RNA binding protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Failure_to_thrive', 'Global_developmental_delay', 'Hereditary_spastic_paraplegia_17', 'Inborn_genetic_diseases', 'Neurodevelopmental_abnormality', 'ZTTK_syndrome'] | ATCAGATCCCTCAGTTTTAGTATCAGAGGCTGCTGTGACTGTTCCAGAACCACCACCAGAGCCAGAATCTTCAATTACGTTAACACCTGTAGAGTCTGCAGTAGTAGCAGAAGAACATGAAGTTGTTCCAGAGAGACCAGTGACTTGTATGGTATCTGAAACTCCCGCCATGTCAGCTGAACCAACTGTGTTAGCATCAGAGCCTCCTGTTATGTCAGAGACAGCAGAAACATTTGATTCCATGAGAGCCTCAGGACATGTTGCCTCAGAAGTATCTACATCCTTGTTGGTTCCAGCAGTAACTACTCCAGTGCTGGCAG... | ATCAGATCCCTCAGTTTTAGTATCAGAGGCTGCTGTGACTGTTCCAGAACCACCACCAGAGCCAGAATCTTCAATTACGTTAACACCTGTAGAGTCTGCAGTAGTAGCAGAAGAACATGAAGTTGTTCCAGAGAGACCAGTGACTTGTATGGTATCTGAAACTCCCGCCATGTCAGCTGAACCAACTGTGTTAGCATCAGAGCCTCCTGTTATGTCAGAGACAGCAGAAACATTTGATTCCATGAGAGCCTCAGGACATGTTGCCTCAGAAGTATCTACATCCTTGTTGGTTCCAGCAGTAACTACTCCAGTGCTGGCAG... | pathogenic | 317,801 |
Does the chromosome 21 mutation at position 33555090 within gene SON (SON DNA and RNA binding protein) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GAAGAACATGAAGTTGTTCCAGAGAGACCAGTGACTTGTATGGTATCTGAAACTCCCGCCATGTCAGCTGAACCAACTGTGTTAGCATCAGAGCCTCCTGTTATGTCAGAGACAGCAGAAACATTTGATTCCATGAGAGCCTCAGGACATGTTGCCTCAGAAGTATCTACATCCTTGTTGGTTCCAGCAGTAACTACTCCAGTGCTGGCAGAGAGCATTCTGGAGCCGCCAGCCATGGCTGCCCCAGAGTCTTCAGCTATGGCTGTCCTGGAGTCTTCGGCTGTGACCGTCCTGGAGTCTTCGACTGTGACTGTCCTGGA... | GAAGAACATGAAGTTGTTCCAGAGAGACCAGTGACTTGTATGGTATCTGAAACTCCCGCCATGTCAGCTGAACCAACTGTGTTAGCATCAGAGCCTCCTGTTATGTCAGAGACAGCAGAAACATTTGATTCCATGAGAGCCTCAGGACATGTTGCCTCAGAAGTATCTACATCCTTGTTGGTTCCAGCAGTAACTACTCCAGTGCTGGCAGAGAGCATTCTGGAGCCGCCAGCCATGGCTGCCCCAGAGTCTTCAGCTATGGCTGTCCTGGAGTCTTCGGCTGTGACCGTCCTGGAGTCTTCGACTGTGACTGTCCTGGA... | benign | 317,804 |
Does the variant impacting SON (SON DNA and RNA binding protein) on chromosome 21, position 33555090, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GAAGAACATGAAGTTGTTCCAGAGAGACCAGTGACTTGTATGGTATCTGAAACTCCCGCCATGTCAGCTGAACCAACTGTGTTAGCATCAGAGCCTCCTGTTATGTCAGAGACAGCAGAAACATTTGATTCCATGAGAGCCTCAGGACATGTTGCCTCAGAAGTATCTACATCCTTGTTGGTTCCAGCAGTAACTACTCCAGTGCTGGCAGAGAGCATTCTGGAGCCGCCAGCCATGGCTGCCCCAGAGTCTTCAGCTATGGCTGTCCTGGAGTCTTCGGCTGTGACCGTCCTGGAGTCTTCGACTGTGACTGTCCTGGA... | GAAGAACATGAAGTTGTTCCAGAGAGACCAGTGACTTGTATGGTATCTGAAACTCCCGCCATGTCAGCTGAACCAACTGTGTTAGCATCAGAGCCTCCTGTTATGTCAGAGACAGCAGAAACATTTGATTCCATGAGAGCCTCAGGACATGTTGCCTCAGAAGTATCTACATCCTTGTTGGTTCCAGCAGTAACTACTCCAGTGCTGGCAGAGAGCATTCTGGAGCCGCCAGCCATGGCTGCCCCAGAGTCTTCAGCTATGGCTGTCCTGGAGTCTTCGGCTGTGACCGTCCTGGAGTCTTCGACTGTGACTGTCCTGGA... | benign | 317,805 |
Determine if the mutation at chromosome 21, position 33555136 in gene SON (SON DNA and RNA binding protein) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CTGAAACTCCCGCCATGTCAGCTGAACCAACTGTGTTAGCATCAGAGCCTCCTGTTATGTCAGAGACAGCAGAAACATTTGATTCCATGAGAGCCTCAGGACATGTTGCCTCAGAAGTATCTACATCCTTGTTGGTTCCAGCAGTAACTACTCCAGTGCTGGCAGAGAGCATTCTGGAGCCGCCAGCCATGGCTGCCCCAGAGTCTTCAGCTATGGCTGTCCTGGAGTCTTCGGCTGTGACCGTCCTGGAGTCTTCGACTGTGACTGTCCTGGAGTCTTCGACTGTAACTGTCCTGGAGCCTTCGGTTGTGACTGTCCCG... | CTGAAACTCCCGCCATGTCAGCTGAACCAACTGTGTTAGCATCAGAGCCTCCTGTTATGTCAGAGACAGCAGAAACATTTGATTCCATGAGAGCCTCAGGACATGTTGCCTCAGAAGTATCTACATCCTTGTTGGTTCCAGCAGTAACTACTCCAGTGCTGGCAGAGAGCATTCTGGAGCCGCCAGCCATGGCTGCCCCAGAGTCTTCAGCTATGGCTGTCCTGGAGTCTTCGGCTGTGACCGTCCTGGAGTCTTCGACTGTGACTGTCCTGGAGTCTTCGACTGTAACTGTCCTGGAGCCTTCGGTTGTGACTGTCCCG... | benign | 317,808 |
A genetic alteration at chromosome 21, position 33576378, in gene SON (SON DNA and RNA binding protein)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TTTGGAAATGAACTAGCTCTGCACCAAATACTTTGATGTTAAGTATTGTACAATTTCAGGAAGCATTGTCCTTGGAATTGTGGGACATGGCCTGACTGTAAGCTCTCAGAGAACCACAGATTTCCCAGGATAGGTTTAGAAAAGCTTATATTAGCATGGAATTATTTAGCAAAGGTTGAAAAATTTCCTGTAACATACAGGATGAGCATCCCACATCTGGAAACCTGAAATGCTTTAAAACAGAAAACTTTTTGAATACTGATATGATGCTCAAAGGAAATACTCATTGGTGCATTTTGGATTTCAGCCTCTTCAGATTT... | TTTGGAAATGAACTAGCTCTGCACCAAATACTTTGATGTTAAGTATTGTACAATTTCAGGAAGCATTGTCCTTGGAATTGTGGGACATGGCCTGACTGTAAGCTCTCAGAGAACCACAGATTTCCCAGGATAGGTTTAGAAAAGCTTATATTAGCATGGAATTATTTAGCAAAGGTTGAAAAATTTCCTGTAACATACAGGATGAGCATCCCACATCTGGAAACCTGAAATGCTTTAAAACAGAAAACTTTTTGAATACTGATATGATGCTCAAAGGAAATACTCATTGGTGCATTTTGGATTTCAGCCTCTTCAGATTT... | benign | 317,822 |
Does the variant on chromosome 21 at location 33579437 affecting gene DONSON (DNA replication fork stabilization factor DONSON) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic | ATTTCATGTGTATTACAGTGGTATTCATATGCTATGTCTCTAAACTTTATTTTCAAAAGCTTAAGGCCCAAATACAAACTTCTCTGGAATAAACGTGGTGTTTTATTTTCTGGGTTATAAAGTGAACAAATACTTAGATACTATTATTTCTTTACCCAATGCTTTTGATTTTTAAGCACTTTTATTTTAAAAATGTGAATTATACAGTCCCCCCCTACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACCCCTAT... | ATTTCATGTGTATTACAGTGGTATTCATATGCTATGTCTCTAAACTTTATTTTCAAAAGCTTAAGGCCCAAATACAAACTTCTCTGGAATAAACGTGGTGTTTTATTTTCTGGGTTATAAAGTGAACAAATACTTAGATACTATTATTTCTTTACCCAATGCTTTTGATTTTTAAGCACTTTTATTTTAAAAATGTGAATTATACAGTCCCCCCCTACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACCCCTAT... | pathogenic | 317,828 |
Is the genetic change at chromosome 21, position 33581397, within gene DONSON (DNA replication fork stabilization factor DONSON) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'Microcephaly,_short_stature,_and_limb_abnormalities'] | CCATATCAAGTACTTTGTCCATTTGCAGGCAGATGTTAAATACAGCAGTTGGCTCGTGTGGATACAGTACTGCAGAGAAAGATCCACTCTGTGAAGATTTGAGCAGCATGGTCAGTGAATGCAGAGAATGAGGCATGATAGGACCTGTAATCTCCAAACTAAATTGGTCTCTGTATCCAGAAAGAGCTTGTGTCTTCACATTCACACTCCGTGCCTTCATGAAAATGTAAAGAAAAGGAAAATTAAGATCATCTCTCAACCTTTTGCCTAGCCAAAAATATGTTCAATATATTTCCATTTGGGGTTTCCTCTCTTTTAAC... | CCATATCAAGTACTTTGTCCATTTGCAGGCAGATGTTAAATACAGCAGTTGGCTCGTGTGGATACAGTACTGCAGAGAAAGATCCACTCTGTGAAGATTTGAGCAGCATGGTCAGTGAATGCAGAGAATGAGGCATGATAGGACCTGTAATCTCCAAACTAAATTGGTCTCTGTATCCAGAAAGAGCTTGTGTCTTCACATTCACACTCCGTGCCTTCATGAAAATGTAAAGAAAAGGAAAATTAAGATCATCTCTCAACCTTTTGCCTAGCCAAAAATATGTTCAATATATTTCCATTTGGGGTTTCCTCTCTTTTAAC... | pathogenic | 317,834 |
Is the genetic change at chromosome 21, position 33588593, within gene DONSON (DNA replication fork stabilization factor DONSON) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Meier-Gorlin_syndrome_1'] | ACAAAGCCCATATTTAAGAAACATTTCCTGACTTCAAATATTTCCCCTCAACCTGTCTGCTTCAGGTCGACGTTCTCCACAATACAAGAATTTTTTTTTTTTTAAATTGAGACGGAGTCTCCCTCTGTCGCCTAGGCTGAGTGAAGTGGTGTGATCTCGGCTCAGTACCAACCTCTGCCGCCTAGGATCAAGCGATTCTCGTGCCTCGTCCTCCCGAGTACCTGGGACTACAGGCGTGCCCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTCGAGACGGGGGTTTCGTCATATTGGCCAGGCTGTTCGCGAACTCC... | ACAAAGCCCATATTTAAGAAACATTTCCTGACTTCAAATATTTCCCCTCAACCTGTCTGCTTCAGGTCGACGTTCTCCACAATACAAGAATTTTTTTTTTTTTAAATTGAGACGGAGTCTCCCTCTGTCGCCTAGGCTGAGTGAAGTGGTGTGATCTCGGCTCAGTACCAACCTCTGCCGCCTAGGATCAAGCGATTCTCGTGCCTCGTCCTCCCGAGTACCTGGGACTACAGGCGTGCCCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTCGAGACGGGGGTTTCGTCATATTGGCCAGGCTGTTCGCGAACTCC... | pathogenic | 317,846 |
Evaluate if the mutation on chromosome 21 at position 34447697 in KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GTCTAGATGGTGCCCACATTCCCTGCTCTGTCTAGATGGTGCCGACATACCCTGATCTGTCCAGACAGTGCCTACATTCCCTGCTCCATCTGGATGGTGCCCACATTCCCTGCTCTGTCCAGACGGTGCCCACATTCCCTGCTCTGTCTGGACGGTGCCCACATTCCCTGATCTGTCCGGACAGTGCCCACATTCCCTCCTCCGTCCGGAAGGTGCCCACATTCCCTGCTGTGTCTGGACGGTGCCCACATTTCCTGCTCCGTCCAGACAGTGCCCACATTCCCTGCTGTGTCTAGATGGTGCCCACATTCCCTGCTCCG... | GTCTAGATGGTGCCCACATTCCCTGCTCTGTCTAGATGGTGCCGACATACCCTGATCTGTCCAGACAGTGCCTACATTCCCTGCTCCATCTGGATGGTGCCCACATTCCCTGCTCTGTCCAGACGGTGCCCACATTCCCTGCTCTGTCTGGACGGTGCCCACATTCCCTGATCTGTCCGGACAGTGCCCACATTCCCTCCTCCGTCCGGAAGGTGCCCACATTCCCTGCTGTGTCTGGACGGTGCCCACATTTCCTGCTCCGTCCAGACAGTGCCCACATTCCCTGCTGTGTCTAGATGGTGCCCACATTCCCTGCTCCG... | benign | 317,910 |
Gene KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1) variant at chromosome position 34448015 on chromosome 21: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CGTCCAGACAGTGCCCACATTCCCTGCTCTGTCTAGATGGTGCCCACATTCCCTGCTCCGTCCGGACGGTGCCCACATTCCCTGCTCCATCCGGACGGTGCCCACATTCCCTGCTCCGTCCGGACGGTGCCCACATTCCCTGCTCCGTCCGGACGGTGCCCACATTCCCTGCTCTGTCCAGATGGTGCCCACATTCCCTGCTCCATCTGGACGGTGCCCACATTCCCTCCTCTGTCTAGACAGTGCCCACATTCCCTGCTCCGTCCGGACGGTGCCCACATTCCCTGCTCTGTCTGGACGGTGCTCACATTCCCTGCTCT... | CGTCCAGACAGTGCCCACATTCCCTGCTCTGTCTAGATGGTGCCCACATTCCCTGCTCCGTCCGGACGGTGCCCACATTCCCTGCTCCATCCGGACGGTGCCCACATTCCCTGCTCCGTCCGGACGGTGCCCACATTCCCTGCTCCGTCCGGACGGTGCCCACATTCCCTGCTCTGTCCAGATGGTGCCCACATTCCCTGCTCCATCTGGACGGTGCCCACATTCCCTCCTCTGTCTAGACAGTGCCCACATTCCCTGCTCCGTCCGGACGGTGCCCACATTCCCTGCTCTGTCTGGACGGTGCTCACATTCCCTGCTCT... | benign | 317,912 |
Determine if the mutation at chromosome 21, position 34449406 in gene KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Long_QT_syndrome'] | TCAGAGGACTTTGTAACCCAAAGAACCACTCATCTCAAGGACTGTGGTAACTCAGGGGCTGAGCCATGCCAGTGTTTATTATGTGAAACAAGGACTGGAACCTCACAAGACCAAGTCTGTCCATTTGAGGATGGCCCAAGATGCACACGGGCTGCTTTTATCTTATGCGCAGGTTTTAAAAAAATATGTTTCATTTAAATATTCCATACTCTTCAGGAATGCCCAGGCAGCTGAGCTTTCAGGATGTCGCATTGCAGAGGACTCCAATGCTACATATGGCAGCTGGAGACCCTTTCAAGGCAGGTGGCAGAACGGAGGCC... | TCAGAGGACTTTGTAACCCAAAGAACCACTCATCTCAAGGACTGTGGTAACTCAGGGGCTGAGCCATGCCAGTGTTTATTATGTGAAACAAGGACTGGAACCTCACAAGACCAAGTCTGTCCATTTGAGGATGGCCCAAGATGCACACGGGCTGCTTTTATCTTATGCGCAGGTTTTAAAAAAATATGTTTCATTTAAATATTCCATACTCTTCAGGAATGCCCAGGCAGCTGAGCTTTCAGGATGTCGCATTGCAGAGGACTCCAATGCTACATATGGCAGCTGGAGACCCTTTCAAGGCAGGTGGCAGAACGGAGGCC... | pathogenic | 317,929 |
Gene mutation in KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1) at chromosome 21, position 34449458—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Jervell_and_Lange-Nielsen_syndrome_2', 'Long_QT_syndrome', 'Long_QT_syndrome_5'] | CAGGGGCTGAGCCATGCCAGTGTTTATTATGTGAAACAAGGACTGGAACCTCACAAGACCAAGTCTGTCCATTTGAGGATGGCCCAAGATGCACACGGGCTGCTTTTATCTTATGCGCAGGTTTTAAAAAAATATGTTTCATTTAAATATTCCATACTCTTCAGGAATGCCCAGGCAGCTGAGCTTTCAGGATGTCGCATTGCAGAGGACTCCAATGCTACATATGGCAGCTGGAGACCCTTTCAAGGCAGGTGGCAGAACGGAGGCCCTCTCTATCTGCTGGGGCAGCCCTCCGGGTGCCCCGCTGGAAGGCAGAGCAG... | CAGGGGCTGAGCCATGCCAGTGTTTATTATGTGAAACAAGGACTGGAACCTCACAAGACCAAGTCTGTCCATTTGAGGATGGCCCAAGATGCACACGGGCTGCTTTTATCTTATGCGCAGGTTTTAAAAAAATATGTTTCATTTAAATATTCCATACTCTTCAGGAATGCCCAGGCAGCTGAGCTTTCAGGATGTCGCATTGCAGAGGACTCCAATGCTACATATGGCAGCTGGAGACCCTTTCAAGGCAGGTGGCAGAACGGAGGCCCTCTCTATCTGCTGGGGCAGCCCTCCGGGTGCCCCGCTGGAAGGCAGAGCAG... | pathogenic | 317,932 |
Determine whether the variant at chromosome 21, position 34449523, in gene KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TGTCCATTTGAGGATGGCCCAAGATGCACACGGGCTGCTTTTATCTTATGCGCAGGTTTTAAAAAAATATGTTTCATTTAAATATTCCATACTCTTCAGGAATGCCCAGGCAGCTGAGCTTTCAGGATGTCGCATTGCAGAGGACTCCAATGCTACATATGGCAGCTGGAGACCCTTTCAAGGCAGGTGGCAGAACGGAGGCCCTCTCTATCTGCTGGGGCAGCCCTCCGGGTGCCCCGCTGGAAGGCAGAGCAGCTCCATCTCTGGGTGGGTGAGAGGTGCTGCATGGGCTCACTATAGTATCCCAATACTGTATGGCA... | TGTCCATTTGAGGATGGCCCAAGATGCACACGGGCTGCTTTTATCTTATGCGCAGGTTTTAAAAAAATATGTTTCATTTAAATATTCCATACTCTTCAGGAATGCCCAGGCAGCTGAGCTTTCAGGATGTCGCATTGCAGAGGACTCCAATGCTACATATGGCAGCTGGAGACCCTTTCAAGGCAGGTGGCAGAACGGAGGCCCTCTCTATCTGCTGGGGCAGCCCTCCGGGTGCCCCGCTGGAAGGCAGAGCAGCTCCATCTCTGGGTGGGTGAGAGGTGCTGCATGGGCTCACTATAGTATCCCAATACTGTATGGCA... | benign | 317,939 |
Gene mutation in KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1) at chromosome 21, position 34449622—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Jervell_and_Lange-Nielsen_syndrome_2', 'Long_QT_syndrome', 'Long_QT_syndrome_5'] | GAATGCCCAGGCAGCTGAGCTTTCAGGATGTCGCATTGCAGAGGACTCCAATGCTACATATGGCAGCTGGAGACCCTTTCAAGGCAGGTGGCAGAACGGAGGCCCTCTCTATCTGCTGGGGCAGCCCTCCGGGTGCCCCGCTGGAAGGCAGAGCAGCTCCATCTCTGGGTGGGTGAGAGGTGCTGCATGGGCTCACTATAGTATCCCAATACTGTATGGCAGTAGGCTGCCAGAGTATCCTAAGCTGGGTGGCTTCAACAACAGGTACTGACTCACAGTTCTGGAGGCCAAAAGTTTGAATTCAAGCAGGGCTGTGCTTC... | GAATGCCCAGGCAGCTGAGCTTTCAGGATGTCGCATTGCAGAGGACTCCAATGCTACATATGGCAGCTGGAGACCCTTTCAAGGCAGGTGGCAGAACGGAGGCCCTCTCTATCTGCTGGGGCAGCCCTCCGGGTGCCCCGCTGGAAGGCAGAGCAGCTCCATCTCTGGGTGGGTGAGAGGTGCTGCATGGGCTCACTATAGTATCCCAATACTGTATGGCAGTAGGCTGCCAGAGTATCCTAAGCTGGGTGGCTTCAACAACAGGTACTGACTCACAGTTCTGGAGGCCAAAAGTTTGAATTCAAGCAGGGCTGTGCTTC... | pathogenic | 317,943 |
The genetic variant at chromosome 21, position 34789584, affecting gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | AGCCACCGCGCCGGCCTATTATTATTTTTTAAAACAAGCATTAAAACATGCTTCAGTGCTCTTTCATATGCAAAGAAGCAACCCTGGGAGCCTGCGCCTTTTCCAGGCCCTCATGCCTTCAGAAGCCAGAGTGTGCTAGGAGCACCGGGGGTGAGGACATAGCTTCAGCCTGAAGCTGTTCACTGGAGGTATCTTCCTAGTGTGTGCAGTGGGCCTTACTCAGTTTCCCAACCCTCCATCTCAGAGAAAGACAAAACCAATTGGATATGGTGTATGTACTTGTCAAACTGTTTATTTGCCATTCACACTGATTGTAACAC... | AGCCACCGCGCCGGCCTATTATTATTTTTTAAAACAAGCATTAAAACATGCTTCAGTGCTCTTTCATATGCAAAGAAGCAACCCTGGGAGCCTGCGCCTTTTCCAGGCCCTCATGCCTTCAGAAGCCAGAGTGTGCTAGGAGCACCGGGGGTGAGGACATAGCTTCAGCCTGAAGCTGTTCACTGGAGGTATCTTCCTAGTGTGTGCAGTGGGCCTTACTCAGTTTCCCAACCCTCCATCTCAGAGAAAGACAAAACCAATTGGATATGGTGTATGTACTTGTCAAACTGTTTATTTGCCATTCACACTGATTGTAACAC... | benign | 318,001 |
Clinical significance of chromosome 21, position 34789604, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATTATTTTTTAAAACAAGCATTAAAACATGCTTCAGTGCTCTTTCATATGCAAAGAAGCAACCCTGGGAGCCTGCGCCTTTTCCAGGCCCTCATGCCTTCAGAAGCCAGAGTGTGCTAGGAGCACCGGGGGTGAGGACATAGCTTCAGCCTGAAGCTGTTCACTGGAGGTATCTTCCTAGTGTGTGCAGTGGGCCTTACTCAGTTTCCCAACCCTCCATCTCAGAGAAAGACAAAACCAATTGGATATGGTGTATGTACTTGTCAAACTGTTTATTTGCCATTCACACTGATTGTAACACTGGATTTACAGAAGAAACTG... | ATTATTTTTTAAAACAAGCATTAAAACATGCTTCAGTGCTCTTTCATATGCAAAGAAGCAACCCTGGGAGCCTGCGCCTTTTCCAGGCCCTCATGCCTTCAGAAGCCAGAGTGTGCTAGGAGCACCGGGGGTGAGGACATAGCTTCAGCCTGAAGCTGTTCACTGGAGGTATCTTCCTAGTGTGTGCAGTGGGCCTTACTCAGTTTCCCAACCCTCCATCTCAGAGAAAGACAAAACCAATTGGATATGGTGTATGTACTTGTCAAACTGTTTATTTGCCATTCACACTGATTGTAACACTGGATTTACAGAAGAAACTG... | benign | 318,004 |
Considering the genetic mutation at chromosome 21, position 34789667, impacting RUNX1 (RUNX family transcription factor 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CTGGGAGCCTGCGCCTTTTCCAGGCCCTCATGCCTTCAGAAGCCAGAGTGTGCTAGGAGCACCGGGGGTGAGGACATAGCTTCAGCCTGAAGCTGTTCACTGGAGGTATCTTCCTAGTGTGTGCAGTGGGCCTTACTCAGTTTCCCAACCCTCCATCTCAGAGAAAGACAAAACCAATTGGATATGGTGTATGTACTTGTCAAACTGTTTATTTGCCATTCACACTGATTGTAACACTGGATTTACAGAAGAAACTGTGGTACAAAGAGAGGAAGGCTCTGGTGGCTCCTGAACAGCAGCAGTCCAGCTGCCCTGCTCAG... | CTGGGAGCCTGCGCCTTTTCCAGGCCCTCATGCCTTCAGAAGCCAGAGTGTGCTAGGAGCACCGGGGGTGAGGACATAGCTTCAGCCTGAAGCTGTTCACTGGAGGTATCTTCCTAGTGTGTGCAGTGGGCCTTACTCAGTTTCCCAACCCTCCATCTCAGAGAAAGACAAAACCAATTGGATATGGTGTATGTACTTGTCAAACTGTTTATTTGCCATTCACACTGATTGTAACACTGGATTTACAGAAGAAACTGTGGTACAAAGAGAGGAAGGCTCTGGTGGCTCCTGAACAGCAGCAGTCCAGCTGCCCTGCTCAG... | benign | 318,006 |
Is the chromosome 21, position 34789933 variant in RUNX1 (RUNX family transcription factor 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GAGAGGAAGGCTCTGGTGGCTCCTGAACAGCAGCAGTCCAGCTGCCCTGCTCAGGCTGGGCACGACGAATGCTCCCAGGAGAGGGGAGGCGGCCCACCCGACTGTGTACCGTGGACTGTGGACAGTGCAGTGCCTGCTCTCCTGTGCTATCTAGAAACACCTTGGAGAGAGGGTTCTGGGATATTCTCTCATGTCATCTGGCTGAAGACACCAGCTTGACAGTTCCCCTTTAAGAAGCATTCCATACGTTTGTACCAGGGAGAAAGAAGCCCACGCACGAATTTTCAGGATGTTTTGTGACCAAACCCAATAACTGCCAC... | GAGAGGAAGGCTCTGGTGGCTCCTGAACAGCAGCAGTCCAGCTGCCCTGCTCAGGCTGGGCACGACGAATGCTCCCAGGAGAGGGGAGGCGGCCCACCCGACTGTGTACCGTGGACTGTGGACAGTGCAGTGCCTGCTCTCCTGTGCTATCTAGAAACACCTTGGAGAGAGGGTTCTGGGATATTCTCTCATGTCATCTGGCTGAAGACACCAGCTTGACAGTTCCCCTTTAAGAAGCATTCCATACGTTTGTACCAGGGAGAAAGAAGCCCACGCACGAATTTTCAGGATGTTTTGTGACCAAACCCAATAACTGCCAC... | benign | 318,011 |
Gene mutation in RUNX1 (RUNX family transcription factor 1) at chromosome 21, position 34789941—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GGCTCTGGTGGCTCCTGAACAGCAGCAGTCCAGCTGCCCTGCTCAGGCTGGGCACGACGAATGCTCCCAGGAGAGGGGAGGCGGCCCACCCGACTGTGTACCGTGGACTGTGGACAGTGCAGTGCCTGCTCTCCTGTGCTATCTAGAAACACCTTGGAGAGAGGGTTCTGGGATATTCTCTCATGTCATCTGGCTGAAGACACCAGCTTGACAGTTCCCCTTTAAGAAGCATTCCATACGTTTGTACCAGGGAGAAAGAAGCCCACGCACGAATTTTCAGGATGTTTTGTGACCAAACCCAATAACTGCCACACAAATAG... | GGCTCTGGTGGCTCCTGAACAGCAGCAGTCCAGCTGCCCTGCTCAGGCTGGGCACGACGAATGCTCCCAGGAGAGGGGAGGCGGCCCACCCGACTGTGTACCGTGGACTGTGGACAGTGCAGTGCCTGCTCTCCTGTGCTATCTAGAAACACCTTGGAGAGAGGGTTCTGGGATATTCTCTCATGTCATCTGGCTGAAGACACCAGCTTGACAGTTCCCCTTTAAGAAGCATTCCATACGTTTGTACCAGGGAGAAAGAAGCCCACGCACGAATTTTCAGGATGTTTTGTGACCAAACCCAATAACTGCCACACAAATAG... | benign | 318,013 |
Variant at chromosome 21, position 34790450, gene RUNX1 (RUNX family transcription factor 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | ACTTAAAAAAAATTGGAACCATGCTATTAGCTGTTTACAAAAGTGAATAAGAAGTAGCTCATTTTAAAGTCTAAAATAAACAAAGTAGAAAGAAGCATTTTTTTCCCTACAGTATTTAGCAAACCTAAGAAAAAGTCCTTAGAAACACACACAAAAAAATTGAAAAAAAGTTATAGGCATTAACAATATTTTATAATGAAGCTTAAAATCTATTTACATACATAAATACAATTAACTTTGTTGATGCAACTCTTCTGGAAGGAAAAAAAGAGCCAAATGATCAGCCTCATCAATACTGACCTGGCTAAAAACAAAATTCC... | ACTTAAAAAAAATTGGAACCATGCTATTAGCTGTTTACAAAAGTGAATAAGAAGTAGCTCATTTTAAAGTCTAAAATAAACAAAGTAGAAAGAAGCATTTTTTTCCCTACAGTATTTAGCAAACCTAAGAAAAAGTCCTTAGAAACACACACAAAAAAATTGAAAAAAAGTTATAGGCATTAACAATATTTTATAATGAAGCTTAAAATCTATTTACATACATAAATACAATTAACTTTGTTGATGCAACTCTTCTGGAAGGAAAAAAAGAGCCAAATGATCAGCCTCATCAATACTGACCTGGCTAAAAACAAAATTCC... | benign | 318,019 |
The mutation impacting RUNX1 (RUNX family transcription factor 1) on chromosome 21 at position 34791217: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AACCATGTTCCTTTATGTGAAGGGGGAAGAACTGGACCTTCTTGTGTTCTGAAATTTGGTACTGGGTGGGGGTATGTGCTATCTGCTTAAGAGAACACAGGAAAAGGAGGAGGGAGAAAGTGGGGTTTGGAAGATAGAGGAAGAGAGAAAAAAAGGGAGATATTGGGGGGAAGAGAGGGAGGGAAATGTATTTTCAGATAGTGAGAAAAAGAAAGAACTGAAATATGTATCCATGTTGAAATCATAAATAGGGACATGAGTAAGCAGTAGAAATGGCTTATTCAATACTTCTCCTGGACCAGACACATGCAGTTATTACA... | AACCATGTTCCTTTATGTGAAGGGGGAAGAACTGGACCTTCTTGTGTTCTGAAATTTGGTACTGGGTGGGGGTATGTGCTATCTGCTTAAGAGAACACAGGAAAAGGAGGAGGGAGAAAGTGGGGTTTGGAAGATAGAGGAAGAGAGAAAAAAAGGGAGATATTGGGGGGAAGAGAGGGAGGGAAATGTATTTTCAGATAGTGAGAAAAAGAAAGAACTGAAATATGTATCCATGTTGAAATCATAAATAGGGACATGAGTAAGCAGTAGAAATGGCTTATTCAATACTTCTCCTGGACCAGACACATGCAGTTATTACA... | benign | 318,029 |
A genetic variant at chromosome 21, position 34791404, affecting gene RUNX1 (RUNX family transcription factor 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GTATTTTCAGATAGTGAGAAAAAGAAAGAACTGAAATATGTATCCATGTTGAAATCATAAATAGGGACATGAGTAAGCAGTAGAAATGGCTTATTCAATACTTCTCCTGGACCAGACACATGCAGTTATTACATGATTGGCTTAAGGGTCTCATTGATACCTTAACTTTCCTGAGGGCAATGAATAAAAAGATACCTTAATCTACCTGAAGTCAATGAATGCAATTTTTCACACACACACACACACACGCACACACACACACATACAAAAATGTGTTGCGTGAGACCTATCGCCAAAACAACTACAGTTTGATTTTTTTT... | GTATTTTCAGATAGTGAGAAAAAGAAAGAACTGAAATATGTATCCATGTTGAAATCATAAATAGGGACATGAGTAAGCAGTAGAAATGGCTTATTCAATACTTCTCCTGGACCAGACACATGCAGTTATTACATGATTGGCTTAAGGGTCTCATTGATACCTTAACTTTCCTGAGGGCAATGAATAAAAAGATACCTTAATCTACCTGAAGTCAATGAATGCAATTTTTCACACACACACACACACACGCACACACACACACATACAAAAATGTGTTGCGTGAGACCTATCGCCAAAACAACTACAGTTTGATTTTTTTT... | benign | 318,030 |
Is the variant located on chromosome 21 at position 34791434, gene RUNX1 (RUNX family transcription factor 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CTGAAATATGTATCCATGTTGAAATCATAAATAGGGACATGAGTAAGCAGTAGAAATGGCTTATTCAATACTTCTCCTGGACCAGACACATGCAGTTATTACATGATTGGCTTAAGGGTCTCATTGATACCTTAACTTTCCTGAGGGCAATGAATAAAAAGATACCTTAATCTACCTGAAGTCAATGAATGCAATTTTTCACACACACACACACACACGCACACACACACACATACAAAAATGTGTTGCGTGAGACCTATCGCCAAAACAACTACAGTTTGATTTTTTTTGAAACAATTAAATACTATATATGCTGGTAA... | CTGAAATATGTATCCATGTTGAAATCATAAATAGGGACATGAGTAAGCAGTAGAAATGGCTTATTCAATACTTCTCCTGGACCAGACACATGCAGTTATTACATGATTGGCTTAAGGGTCTCATTGATACCTTAACTTTCCTGAGGGCAATGAATAAAAAGATACCTTAATCTACCTGAAGTCAATGAATGCAATTTTTCACACACACACACACACACGCACACACACACACATACAAAAATGTGTTGCGTGAGACCTATCGCCAAAACAACTACAGTTTGATTTTTTTTGAAACAATTAAATACTATATATGCTGGTAA... | benign | 318,031 |
Determine whether the variant at chromosome 21, position 34791452, in gene RUNX1 (RUNX family transcription factor 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TTGAAATCATAAATAGGGACATGAGTAAGCAGTAGAAATGGCTTATTCAATACTTCTCCTGGACCAGACACATGCAGTTATTACATGATTGGCTTAAGGGTCTCATTGATACCTTAACTTTCCTGAGGGCAATGAATAAAAAGATACCTTAATCTACCTGAAGTCAATGAATGCAATTTTTCACACACACACACACACACGCACACACACACACATACAAAAATGTGTTGCGTGAGACCTATCGCCAAAACAACTACAGTTTGATTTTTTTTGAAACAATTAAATACTATATATGCTGGTAAGAGTCTGTGAAACTCTAA... | TTGAAATCATAAATAGGGACATGAGTAAGCAGTAGAAATGGCTTATTCAATACTTCTCCTGGACCAGACACATGCAGTTATTACATGATTGGCTTAAGGGTCTCATTGATACCTTAACTTTCCTGAGGGCAATGAATAAAAAGATACCTTAATCTACCTGAAGTCAATGAATGCAATTTTTCACACACACACACACACACGCACACACACACACATACAAAAATGTGTTGCGTGAGACCTATCGCCAAAACAACTACAGTTTGATTTTTTTTGAAACAATTAAATACTATATATGCTGGTAAGAGTCTGTGAAACTCTAA... | benign | 318,033 |
Is chromosome 21, position 34791467, gene RUNX1 (RUNX family transcription factor 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GGGACATGAGTAAGCAGTAGAAATGGCTTATTCAATACTTCTCCTGGACCAGACACATGCAGTTATTACATGATTGGCTTAAGGGTCTCATTGATACCTTAACTTTCCTGAGGGCAATGAATAAAAAGATACCTTAATCTACCTGAAGTCAATGAATGCAATTTTTCACACACACACACACACACGCACACACACACACATACAAAAATGTGTTGCGTGAGACCTATCGCCAAAACAACTACAGTTTGATTTTTTTTGAAACAATTAAATACTATATATGCTGGTAAGAGTCTGTGAAACTCTAAATGACCAATCCAGTG... | GGGACATGAGTAAGCAGTAGAAATGGCTTATTCAATACTTCTCCTGGACCAGACACATGCAGTTATTACATGATTGGCTTAAGGGTCTCATTGATACCTTAACTTTCCTGAGGGCAATGAATAAAAAGATACCTTAATCTACCTGAAGTCAATGAATGCAATTTTTCACACACACACACACACACGCACACACACACACATACAAAAATGTGTTGCGTGAGACCTATCGCCAAAACAACTACAGTTTGATTTTTTTTGAAACAATTAAATACTATATATGCTGGTAAGAGTCTGTGAAACTCTAAATGACCAATCCAGTG... | benign | 318,034 |
Variant at chromosome 21, position 34791552, gene RUNX1 (RUNX family transcription factor 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TCTCATTGATACCTTAACTTTCCTGAGGGCAATGAATAAAAAGATACCTTAATCTACCTGAAGTCAATGAATGCAATTTTTCACACACACACACACACACGCACACACACACACATACAAAAATGTGTTGCGTGAGACCTATCGCCAAAACAACTACAGTTTGATTTTTTTTGAAACAATTAAATACTATATATGCTGGTAAGAGTCTGTGAAACTCTAAATGACCAATCCAGTGAGCCTACAATAGTGACAAGCCCCCTCCACACATGGCTTTGAGAGTAAAGGTTCAATGTAAAAGATTATCTAATCAGAGCATGAGG... | TCTCATTGATACCTTAACTTTCCTGAGGGCAATGAATAAAAAGATACCTTAATCTACCTGAAGTCAATGAATGCAATTTTTCACACACACACACACACACGCACACACACACACATACAAAAATGTGTTGCGTGAGACCTATCGCCAAAACAACTACAGTTTGATTTTTTTTGAAACAATTAAATACTATATATGCTGGTAAGAGTCTGTGAAACTCTAAATGACCAATCCAGTGAGCCTACAATAGTGACAAGCCCCCTCCACACATGGCTTTGAGAGTAAAGGTTCAATGTAAAAGATTATCTAATCAGAGCATGAGG... | benign | 318,036 |
Is chromosome 21, position 34792144, gene RUNX1 (RUNX family transcription factor 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GTGAATATATTCTGAGTTTGTCCGAGATCTGCTATAGCTCTTCTCTAGATAAGAACGACCTGACAACATAAGCTGCTTTACTCTTTAACTCTTACCAAAGTGCTACTGCATGTGTGTAAAACAAATAATCAATATATATATAAGAAAACTCAAAAACAAGTTGTTTTAAATAAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGG... | GTGAATATATTCTGAGTTTGTCCGAGATCTGCTATAGCTCTTCTCTAGATAAGAACGACCTGACAACATAAGCTGCTTTACTCTTTAACTCTTACCAAAGTGCTACTGCATGTGTGTAAAACAAATAATCAATATATATATAAGAAAACTCAAAAACAAGTTGTTTTAAATAAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGG... | pathogenic | 318,057 |
Clinical classification of chromosome 21, position 34792164, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TCCGAGATCTGCTATAGCTCTTCTCTAGATAAGAACGACCTGACAACATAAGCTGCTTTACTCTTTAACTCTTACCAAAGTGCTACTGCATGTGTGTAAAACAAATAATCAATATATATATAAGAAAACTCAAAAACAAGTTGTTTTAAATAAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGA... | TCCGAGATCTGCTATAGCTCTTCTCTAGATAAGAACGACCTGACAACATAAGCTGCTTTACTCTTTAACTCTTACCAAAGTGCTACTGCATGTGTGTAAAACAAATAATCAATATATATATAAGAAAACTCAAAAACAAGTTGTTTTAAATAAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGA... | pathogenic | 318,065 |
Is the genetic change at chromosome 21, position 34792164, within gene RUNX1 (RUNX family transcription factor 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TCCGAGATCTGCTATAGCTCTTCTCTAGATAAGAACGACCTGACAACATAAGCTGCTTTACTCTTTAACTCTTACCAAAGTGCTACTGCATGTGTGTAAAACAAATAATCAATATATATATAAGAAAACTCAAAAACAAGTTGTTTTAAATAAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGA... | TCCGAGATCTGCTATAGCTCTTCTCTAGATAAGAACGACCTGACAACATAAGCTGCTTTACTCTTTAACTCTTACCAAAGTGCTACTGCATGTGTGTAAAACAAATAATCAATATATATATAAGAAAACTCAAAAACAAGTTGTTTTAAATAAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGA... | pathogenic | 318,066 |
Is chromosome 21, position 34792214, gene RUNX1 (RUNX family transcription factor 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | AGCTGCTTTACTCTTTAACTCTTACCAAAGTGCTACTGCATGTGTGTAAAACAAATAATCAATATATATATAAGAAAACTCAAAAACAAGTTGTTTTAAATAAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTG... | AGCTGCTTTACTCTTTAACTCTTACCAAAGTGCTACTGCATGTGTGTAAAACAAATAATCAATATATATATAAGAAAACTCAAAAACAAGTTGTTTTAAATAAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTG... | pathogenic | 318,073 |
Regarding the variant found on chromosome 21 at position 34792282 in gene RUNX1 (RUNX family transcription factor 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TATAAGAAAACTCAAAAACAAGTTGTTTTAAATAAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGA... | TATAAGAAAACTCAAAAACAAGTTGTTTTAAATAAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGA... | pathogenic | 318,091 |
For chromosome 21, position 34792294, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | CAAAAACAAGTTGTTTTAAATAAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATT... | CAAAAACAAGTTGTTTTAAATAAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATT... | pathogenic | 318,097 |
Is the chromosome 21, position 34792300 variant in RUNX1 (RUNX family transcription factor 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | CAAGTTGTTTTAAATAAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCC... | CAAGTTGTTTTAAATAAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCC... | pathogenic | 318,099 |
Clinically, how would you classify the variant at chromosome 21, position 34792300, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | CAAGTTGTTTTAAATAAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCC... | CAAGTTGTTTTAAATAAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCC... | pathogenic | 318,100 |
Is the genetic mutation found on chromosome 21 at position 34792306, within the gene RUNX1 (RUNX family transcription factor 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GTTTTAAATAAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGAC... | GTTTTAAATAAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGAC... | pathogenic | 318,108 |
Mutation at chromosome 21, position 34792315, within RUNX1 (RUNX family transcription factor 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Atypical_chronic_myeloid_leukemia,_BCR-ABL1_negative', 'Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | AAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGAC... | AAGTCCAGCTGTTTTTGCTGCCTGCAGCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGAC... | pathogenic | 318,117 |
Chromosome 21, position 34792341, gene RUNX1 (RUNX family transcription factor 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGC... | GCCAAAGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGC... | pathogenic | 318,125 |
Considering the variant on chromosome 21, location 34792346, involving gene RUNX1 (RUNX family transcription factor 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | AGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGG... | AGATTTGCCTAATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGG... | pathogenic | 318,128 |
The chromosome 21, position 34792357 genetic variant in gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Acute_myeloid_leukemia', 'Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | ATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCAT... | ATTTGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCAT... | pathogenic | 318,133 |
A genetic alteration at chromosome 21, position 34792360, in gene RUNX1 (RUNX family transcription factor 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATA... | TGAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATA... | pathogenic | 318,134 |
Clinically, how would you classify the variant at chromosome 21, position 34792361, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | GAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATAC... | GAATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATAC... | pathogenic | 318,135 |
Clinical impact (benign or pathogenic) of the variant at chromosome 21, location 34792363, gene RUNX1 (RUNX family transcription factor 1): what disease(s) if pathogenic? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | ATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCC... | ATGCTTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCC... | pathogenic | 318,138 |
The mutation in gene RUNX1 (RUNX family transcription factor 1) at chromosome 21, position 34792367—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | TTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATA... | TTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATA... | pathogenic | 318,139 |
Variant chromosome 21, position 34792367, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATA... | TTAAATTTATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATA... | pathogenic | 318,140 |
Determine whether the variant at chromosome 21, position 34792374, in gene RUNX1 (RUNX family transcription factor 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGG... | TATAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGG... | pathogenic | 318,142 |
For chromosome 21, position 34792376, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | TAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGT... | TAAAATAAAAATCAAACACTGTTCTGAAGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGT... | pathogenic | 318,145 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 21, position 34792403, gene RUNX1 (RUNX family transcription factor 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'RUNX1-related_disorder'] | AGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGA... | AGTCCTGCTTTCAAATACTCTTCAGAGTTGACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGA... | pathogenic | 318,150 |
Assess the variant on chromosome 21, position 34792432, impacting RUNX1 (RUNX family transcription factor 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'likely other unspecified diseases'] | GACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGG... | GACCTGAAATCGTTTCAACGAATTTTAAGAGGTACGTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGG... | pathogenic | 318,158 |
Determine if the mutation at chromosome 21, position 34792467 in gene RUNX1 (RUNX family transcription factor 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTG... | GTTAAATAACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTG... | pathogenic | 318,165 |
Does the variant impacting RUNX1 (RUNX family transcription factor 1) on chromosome 21, position 34792474, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTGTCTCCAC... | AACCACCAGATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTGTCTCCAC... | benign | 318,168 |
Does the variant impacting RUNX1 (RUNX family transcription factor 1) on chromosome 21, position 34792483, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Myelodysplasia'] | ATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTGTCTCCACTGAGGCACA... | ATCATTTGGAGCACACATGTGTCAAAATCAGCAGTTAGTATTTATGAGTTGTACAACAACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTGTCTCCACTGAGGCACA... | pathogenic | 318,171 |
Is the genetic mutation found on chromosome 21 at position 34792541, within the gene RUNX1 (RUNX family transcription factor 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Acute_myeloid_leukemia', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | ACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTGTCTCCACTGAGGCACACAGAGGCAAATTGACTCCTCGAGGCCTGCTTCTGGTGGGCCCTTAAATTGCTATAATC... | ACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTGTCTCCACTGAGGCACACAGAGGCAAATTGACTCCTCGAGGCCTGCTTCTGGTGGGCCCTTAAATTGCTATAATC... | pathogenic | 318,186 |
Assess the variant on chromosome 21, position 34792541, impacting RUNX1 (RUNX family transcription factor 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | ACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTGTCTCCACTGAGGCACACAGAGGCAAATTGACTCCTCGAGGCCTGCTTCTGGTGGGCCCTTAAATTGCTATAATC... | ACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTGTCTCCACTGAGGCACACAGAGGCAAATTGACTCCTCGAGGCCTGCTTCTGGTGGGCCCTTAAATTGCTATAATC... | pathogenic | 318,187 |
Mutation at chromosome 21, position 34792541, within RUNX1 (RUNX family transcription factor 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'RUNX1-related_disorder'] | ACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTGTCTCCACTGAGGCACACAGAGGCAAATTGACTCCTCGAGGCCTGCTTCTGGTGGGCCCTTAAATTGCTATAATC... | ACTGCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTGTCTCCACTGAGGCACACAGAGGCAAATTGACTCCTCGAGGCCTGCTTCTGGTGGGCCCTTAAATTGCTATAATC... | pathogenic | 318,188 |
Benign or pathogenic: chromosome 21, position 34792544, gene RUNX1 (RUNX family transcription factor 1) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTGTCTCCACTGAGGCACACAGAGGCAAATTGACTCCTCGAGGCCTGCTTCTGGTGGGCCCTTAAATTGCTATAATCGTA... | GCATTCTGACCAAATCCTCCAATAAAAATAGTGCCATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTGTCTCCACTGAGGCACACAGAGGCAAATTGACTCCTCGAGGCCTGCTTCTGGTGGGCCCTTAAATTGCTATAATCGTA... | pathogenic | 318,189 |
Variant in gene RUNX1 (RUNX family transcription factor 1), located at chromosome 21 position 34792578: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | CATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTGTCTCCACTGAGGCACACAGAGGCAAATTGACTCCTCGAGGCCTGCTTCTGGTGGGCCCTTAAATTGCTATAATCGTAACCCCTAAATTCATTGATTTGGTTCCTATGTAAA... | CATAAAATTTACAGCGACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTGTCTCCACTGAGGCACACAGAGGCAAATTGACTCCTCGAGGCCTGCTTCTGGTGGGCCCTTAAATTGCTATAATCGTAACCCCTAAATTCATTGATTTGGTTCCTATGTAAA... | pathogenic | 318,202 |
Considering the genetic mutation at chromosome 21, position 34792594, impacting RUNX1 (RUNX family transcription factor 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | ACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTGTCTCCACTGAGGCACACAGAGGCAAATTGACTCCTCGAGGCCTGCTTCTGGTGGGCCCTTAAATTGCTATAATCGTAACCCCTAAATTCATTGATTTGGTTCCTATGTAAATGTGGCTCCCCTACAC... | ACATTGGATACCTTTGAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTGTCTCCACTGAGGCACACAGAGGCAAATTGACTCCTCGAGGCCTGCTTCTGGTGGGCCCTTAAATTGCTATAATCGTAACCCCTAAATTCATTGATTTGGTTCCTATGTAAATGTGGCTCCCCTACAC... | pathogenic | 318,213 |
Clinically, how would you classify the variant at chromosome 21, position 34792609, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | GAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTGTCTCCACTGAGGCACACAGAGGCAAATTGACTCCTCGAGGCCTGCTTCTGGTGGGCCCTTAAATTGCTATAATCGTAACCCCTAAATTCATTGATTTGGTTCCTATGTAAATGTGGCTCCCCTACACAGTTTACTTTGGCTG... | GAATTGTAGCCACGGACAGTAGTGACATGAATCTTTCCTGTCACACTGGTGCACAGGTAAAAGCCCATATACCCCATAGGGTAGGGTCTCAGCCTGGTGAAAGCAACACAAAGATGTTGTTGAGTGAGCAGCACAGGACAGGGGGTCTCGCACAGGTGGGACCATGTTTTCCCACTTGTCTCCACTGAGGCACACAGAGGCAAATTGACTCCTCGAGGCCTGCTTCTGGTGGGCCCTTAAATTGCTATAATCGTAACCCCTAAATTCATTGATTTGGTTCCTATGTAAATGTGGCTCCCCTACACAGTTTACTTTGGCTG... | pathogenic | 318,218 |
A mutation at chromosome position 34799295 on chromosome 21 in gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GCATGGTTTTTATCTACTTCACACTCCCATGCCATAAAATGTTCTCTCTTACTCCTTGGGTGATTGAAGTCCAGGATATTCACAAATGTAACTGTGATATGGGACTTTGGAGTGCACATGTTACTCATTCCTTTTATTTAAAAAGTCACCCTACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACC... | GCATGGTTTTTATCTACTTCACACTCCCATGCCATAAAATGTTCTCTCTTACTCCTTGGGTGATTGAAGTCCAGGATATTCACAAATGTAACTGTGATATGGGACTTTGGAGTGCACATGTTACTCATTCCTTTTATTTAAAAAGTCACCCTACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACC... | pathogenic | 318,240 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 21, position 34799300, gene RUNX1 (RUNX family transcription factor 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | GTTTTTATCTACTTCACACTCCCATGCCATAAAATGTTCTCTCTTACTCCTTGGGTGATTGAAGTCCAGGATATTCACAAATGTAACTGTGATATGGGACTTTGGAGTGCACATGTTACTCATTCCTTTTATTTAAAAAGTCACCCTACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGC... | GTTTTTATCTACTTCACACTCCCATGCCATAAAATGTTCTCTCTTACTCCTTGGGTGATTGAAGTCCAGGATATTCACAAATGTAACTGTGATATGGGACTTTGGAGTGCACATGTTACTCATTCCTTTTATTTAAAAAGTCACCCTACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGC... | pathogenic | 318,241 |
Is the genetic variant on chromosome 21, position 34799302, gene RUNX1 (RUNX family transcription factor 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TTTTATCTACTTCACACTCCCATGCCATAAAATGTTCTCTCTTACTCCTTGGGTGATTGAAGTCCAGGATATTCACAAATGTAACTGTGATATGGGACTTTGGAGTGCACATGTTACTCATTCCTTTTATTTAAAAAGTCACCCTACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCG... | TTTTATCTACTTCACACTCCCATGCCATAAAATGTTCTCTCTTACTCCTTGGGTGATTGAAGTCCAGGATATTCACAAATGTAACTGTGATATGGGACTTTGGAGTGCACATGTTACTCATTCCTTTTATTTAAAAAGTCACCCTACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCG... | pathogenic | 318,242 |
Chromosome 21, position 34799310, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | ACTTCACACTCCCATGCCATAAAATGTTCTCTCTTACTCCTTGGGTGATTGAAGTCCAGGATATTCACAAATGTAACTGTGATATGGGACTTTGGAGTGCACATGTTACTCATTCCTTTTATTTAAAAAGTCACCCTACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAG... | ACTTCACACTCCCATGCCATAAAATGTTCTCTCTTACTCCTTGGGTGATTGAAGTCCAGGATATTCACAAATGTAACTGTGATATGGGACTTTGGAGTGCACATGTTACTCATTCCTTTTATTTAAAAAGTCACCCTACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAG... | pathogenic | 318,245 |
Clinically, how would you classify the variant at chromosome 21, position 34799317, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | ACTCCCATGCCATAAAATGTTCTCTCTTACTCCTTGGGTGATTGAAGTCCAGGATATTCACAAATGTAACTGTGATATGGGACTTTGGAGTGCACATGTTACTCATTCCTTTTATTTAAAAAGTCACCCTACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAGAGGGGTG... | ACTCCCATGCCATAAAATGTTCTCTCTTACTCCTTGGGTGATTGAAGTCCAGGATATTCACAAATGTAACTGTGATATGGGACTTTGGAGTGCACATGTTACTCATTCCTTTTATTTAAAAAGTCACCCTACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAGAGGGGTG... | benign | 318,250 |
Clinical impact (benign or pathogenic) of the variant at chromosome 21, location 34799356, gene RUNX1 (RUNX family transcription factor 1): what disease(s) if pathogenic? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GATTGAAGTCCAGGATATTCACAAATGTAACTGTGATATGGGACTTTGGAGTGCACATGTTACTCATTCCTTTTATTTAAAAAGTCACCCTACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAGAGGGGTGCCCTGAGAACAATCAGTAAAAGCTGACAAGTGCCTTTGT... | GATTGAAGTCCAGGATATTCACAAATGTAACTGTGATATGGGACTTTGGAGTGCACATGTTACTCATTCCTTTTATTTAAAAAGTCACCCTACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAGAGGGGTGCCCTGAGAACAATCAGTAAAAGCTGACAAGTGCCTTTGT... | pathogenic | 318,255 |
Variant chromosome 21, position 34799363, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GTCCAGGATATTCACAAATGTAACTGTGATATGGGACTTTGGAGTGCACATGTTACTCATTCCTTTTATTTAAAAAGTCACCCTACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAGAGGGGTGCCCTGAGAACAATCAGTAAAAGCTGACAAGTGCCTTTGTTCTTGAG... | GTCCAGGATATTCACAAATGTAACTGTGATATGGGACTTTGGAGTGCACATGTTACTCATTCCTTTTATTTAAAAAGTCACCCTACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAGAGGGGTGCCCTGAGAACAATCAGTAAAAGCTGACAAGTGCCTTTGTTCTTGAG... | pathogenic | 318,256 |
Located at chromosome 21 position 34799411, the variant affecting gene RUNX1 (RUNX family transcription factor 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | CATGTTACTCATTCCTTTTATTTAAAAAGTCACCCTACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAGAGGGGTGCCCTGAGAACAATCAGTAAAAGCTGACAAGTGCCTTTGTTCTTGAGGGATAAGCTTCTAGAAACCACAAGCTAAACAAGATGCCAAGATACCTG... | CATGTTACTCATTCCTTTTATTTAAAAAGTCACCCTACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAGAGGGGTGCCCTGAGAACAATCAGTAAAAGCTGACAAGTGCCTTTGTTCTTGAGGGATAAGCTTCTAGAAACCACAAGCTAAACAAGATGCCAAGATACCTG... | pathogenic | 318,264 |
Benign or pathogenic: chromosome 21, position 34799437, gene RUNX1 (RUNX family transcription factor 1) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | AAGTCACCCTACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAGAGGGGTGCCCTGAGAACAATCAGTAAAAGCTGACAAGTGCCTTTGTTCTTGAGGGATAAGCTTCTAGAAACCACAAGCTAAACAAGATGCCAAGATACCTGTGCTACTCTCAATGCCTTGGAGCAGA... | AAGTCACCCTACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAGAGGGGTGCCCTGAGAACAATCAGTAAAAGCTGACAAGTGCCTTTGTTCTTGAGGGATAAGCTTCTAGAAACCACAAGCTAAACAAGATGCCAAGATACCTGTGCTACTCTCAATGCCTTGGAGCAGA... | pathogenic | 318,272 |
Does the variant on chromosome 21 at location 34799447 affecting gene RUNX1 (RUNX family transcription factor 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | ACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAGAGGGGTGCCCTGAGAACAATCAGTAAAAGCTGACAAGTGCCTTTGTTCTTGAGGGATAAGCTTCTAGAAACCACAAGCTAAACAAGATGCCAAGATACCTGTGCTACTCTCAATGCCTTGGAGCAGAATGTACCATG... | ACCATCTGAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAGAGGGGTGCCCTGAGAACAATCAGTAAAAGCTGACAAGTGCCTTTGTTCTTGAGGGATAAGCTTCTAGAAACCACAAGCTAAACAAGATGCCAAGATACCTGTGCTACTCTCAATGCCTTGGAGCAGAATGTACCATG... | pathogenic | 318,275 |
Clinical classification of chromosome 21, position 34799454, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAGAGGGGTGCCCTGAGAACAATCAGTAAAAGCTGACAAGTGCCTTTGTTCTTGAGGGATAAGCTTCTAGAAACCACAAGCTAAACAAGATGCCAAGATACCTGTGCTACTCTCAATGCCTTGGAGCAGAATGTACCATGAAAATAT... | GAACACCAGTCAGCTGGAGGAGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAGAGGGGTGCCCTGAGAACAATCAGTAAAAGCTGACAAGTGCCTTTGTTCTTGAGGGATAAGCTTCTAGAAACCACAAGCTAAACAAGATGCCAAGATACCTGTGCTACTCTCAATGCCTTGGAGCAGAATGTACCATGAAAATAT... | pathogenic | 318,278 |
A genetic variant at chromosome 21, position 34799474, affecting gene RUNX1 (RUNX family transcription factor 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | AGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAGAGGGGTGCCCTGAGAACAATCAGTAAAAGCTGACAAGTGCCTTTGTTCTTGAGGGATAAGCTTCTAGAAACCACAAGCTAAACAAGATGCCAAGATACCTGTGCTACTCTCAATGCCTTGGAGCAGAATGTACCATGAAAATATTGGCATTAATGGCCAAAAGT... | AGTTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAGAGGGGTGCCCTGAGAACAATCAGTAAAAGCTGACAAGTGCCTTTGTTCTTGAGGGATAAGCTTCTAGAAACCACAAGCTAAACAAGATGCCAAGATACCTGTGCTACTCTCAATGCCTTGGAGCAGAATGTACCATGAAAATATTGGCATTAATGGCCAAAAGT... | benign | 318,286 |
Considering the genetic mutation at chromosome 21, position 34799476, impacting RUNX1 (RUNX family transcription factor 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAGAGGGGTGCCCTGAGAACAATCAGTAAAAGCTGACAAGTGCCTTTGTTCTTGAGGGATAAGCTTCTAGAAACCACAAGCTAAACAAGATGCCAAGATACCTGTGCTACTCTCAATGCCTTGGAGCAGAATGTACCATGAAAATATTGGCATTAATGGCCAAAAGTAA... | TTGGCCCCTAGGGTTCTTGGACTATAAGGTGCTGATCTTGGGTGATGACCAAGTCAAAAGACTTATGTAATAAATTCCAAAGGATAGACCCATAGCAGGAACATTTGAAGGAGAACAGGCATTATTTCAGGTGAAGACCGTAGCCGGTGTGCAGAGGGGTGCCCTGAGAACAATCAGTAAAAGCTGACAAGTGCCTTTGTTCTTGAGGGATAAGCTTCTAGAAACCACAAGCTAAACAAGATGCCAAGATACCTGTGCTACTCTCAATGCCTTGGAGCAGAATGTACCATGAAAATATTGGCATTAATGGCCAAAAGTAA... | benign | 318,288 |
Regarding the variant at chromosome 21 and position 34821685, affecting gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AGGGATGCCTTCATCTGGTCCCAGCTCTCTCCCTCTCATAGCCGTGTACTCTGTTGGGAGCAATTGGCATGAAGTTTGGCAGTGGCATCCTGAACCGGGATGACAGGACCATCAGTCAGCACCAGCCTCCCGCCCCTCCTGGCCTCGGCCTGCCAAAGCCTCGTATTCCCACAGCTGTGGCTCCAGCCTCTGCCCTGTCACACTCGCACACCTGTTTGCCATCCTGCTTCTGGCCCGCCAGCCCAAGCCACAGCCCCCAAGCAGGCTTAAAGGGCCGGGCTTGTGGGAGGAATCGGCACAGGATGGTATTTACTCAAAAT... | AGGGATGCCTTCATCTGGTCCCAGCTCTCTCCCTCTCATAGCCGTGTACTCTGTTGGGAGCAATTGGCATGAAGTTTGGCAGTGGCATCCTGAACCGGGATGACAGGACCATCAGTCAGCACCAGCCTCCCGCCCCTCCTGGCCTCGGCCTGCCAAAGCCTCGTATTCCCACAGCTGTGGCTCCAGCCTCTGCCCTGTCACACTCGCACACCTGTTTGCCATCCTGCTTCTGGCCCGCCAGCCCAAGCCACAGCCCCCAAGCAGGCTTAAAGGGCCGGGCTTGTGGGAGGAATCGGCACAGGATGGTATTTACTCAAAAT... | benign | 318,293 |
Variant at chromosome 21, position 34834413, gene RUNX1 (RUNX family transcription factor 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | CCAAGAAACAGAGCAACTCAATGGTGACAATATCAATTTTCCCCCATGTGGCTGAATTTTCCATTGCCTTTAAAAATGCTTAAGACTTTTTGTTCCCATATCAGCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTG... | CCAAGAAACAGAGCAACTCAATGGTGACAATATCAATTTTCCCCCATGTGGCTGAATTTTCCATTGCCTTTAAAAATGCTTAAGACTTTTTGTTCCCATATCAGCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTG... | pathogenic | 318,302 |
A genetic alteration at chromosome 21, position 34834414, in gene RUNX1 (RUNX family transcription factor 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | CAAGAAACAGAGCAACTCAATGGTGACAATATCAATTTTCCCCCATGTGGCTGAATTTTCCATTGCCTTTAAAAATGCTTAAGACTTTTTGTTCCCATATCAGCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGC... | CAAGAAACAGAGCAACTCAATGGTGACAATATCAATTTTCCCCCATGTGGCTGAATTTTCCATTGCCTTTAAAAATGCTTAAGACTTTTTGTTCCCATATCAGCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGC... | pathogenic | 318,303 |
Determine if the mutation at chromosome 21, position 34834432 in gene RUNX1 (RUNX family transcription factor 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | AATGGTGACAATATCAATTTTCCCCCATGTGGCTGAATTTTCCATTGCCTTTAAAAATGCTTAAGACTTTTTGTTCCCATATCAGCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTC... | AATGGTGACAATATCAATTTTCCCCCATGTGGCTGAATTTTCCATTGCCTTTAAAAATGCTTAAGACTTTTTGTTCCCATATCAGCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTC... | pathogenic | 318,307 |
Chromosome 21, position 34834436, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Acute_myeloid_leukemia', 'Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | GTGACAATATCAATTTTCCCCCATGTGGCTGAATTTTCCATTGCCTTTAAAAATGCTTAAGACTTTTTGTTCCCATATCAGCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTG... | GTGACAATATCAATTTTCCCCCATGTGGCTGAATTTTCCATTGCCTTTAAAAATGCTTAAGACTTTTTGTTCCCATATCAGCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTG... | pathogenic | 318,308 |
A genetic variant at chromosome 21, position 34834437, affecting gene RUNX1 (RUNX family transcription factor 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TGACAATATCAATTTTCCCCCATGTGGCTGAATTTTCCATTGCCTTTAAAAATGCTTAAGACTTTTTGTTCCCATATCAGCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGA... | TGACAATATCAATTTTCCCCCATGTGGCTGAATTTTCCATTGCCTTTAAAAATGCTTAAGACTTTTTGTTCCCATATCAGCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGA... | pathogenic | 318,309 |
Is the genetic mutation found on chromosome 21 at position 34834479, within the gene RUNX1 (RUNX family transcription factor 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | CCTTTAAAAATGCTTAAGACTTTTTGTTCCCATATCAGCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTG... | CCTTTAAAAATGCTTAAGACTTTTTGTTCCCATATCAGCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTG... | pathogenic | 318,319 |
Does the variant on chromosome 21 at location 34834485 affecting gene RUNX1 (RUNX family transcription factor 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | AAAATGCTTAAGACTTTTTGTTCCCATATCAGCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTT... | AAAATGCTTAAGACTTTTTGTTCCCATATCAGCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTT... | pathogenic | 318,320 |
A mutation at chromosome position 34834488 on chromosome 21 in gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | ATGCTTAAGACTTTTTGTTCCCATATCAGCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAA... | ATGCTTAAGACTTTTTGTTCCCATATCAGCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAA... | pathogenic | 318,322 |
Is chromosome 21, position 34834495, gene RUNX1 (RUNX family transcription factor 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | AGACTTTTTGTTCCCATATCAGCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATC... | AGACTTTTTGTTCCCATATCAGCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATC... | pathogenic | 318,324 |
The genetic variant at chromosome 21, position 34834516, affecting gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | GCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCAT... | GCAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCAT... | pathogenic | 318,328 |
The mutation impacting RUNX1 (RUNX family transcription factor 1) on chromosome 21 at position 34834517: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | CAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATT... | CAGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATT... | pathogenic | 318,330 |
Is the variant located on chromosome 21 at position 34834518, gene RUNX1 (RUNX family transcription factor 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | AGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTA... | AGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTA... | pathogenic | 318,331 |
Assess the variant on chromosome 21, position 34834518, impacting RUNX1 (RUNX family transcription factor 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | AGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTA... | AGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTA... | pathogenic | 318,332 |
Is the genetic variant on chromosome 21, position 34834518, gene RUNX1 (RUNX family transcription factor 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | AGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTA... | AGAAAAAGGCAAATCCCTTAATCAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTA... | pathogenic | 318,333 |
Variant on chromosome 21, at position 34834540, affecting RUNX1 (RUNX family transcription factor 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | CAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTATTAATGATTATTATGTAACAGG... | CAACCTAGTAGTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTATTAATGATTATTATGTAACAGG... | pathogenic | 318,335 |
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