question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Is the variant located on chromosome 21 at position 37478166, gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TCAGCTACAATATTATAGTAGCTGCACTACGATAATATTTCGGACCACCCGGATGGTGATTTTCCTGTTCTTTAACTGGCTCTGGGACCTTGGTCAAGTTCTTTAACGTTGGAGACTCTGGTTTCGCGTGTGTAAAATGGTCACAGGAATGGTATTTATCTCCCTTGAGATTGTTGAGGGGATTGCATGGAAGACTTGTAAAAATATGCATGCTAAAAACATGTTGTTCAGTAAATACCTGCTACTGTTATTGTTACTTTATTATTAAGTTATTCGGTTGACTCTACCAATGACTTATACTTCCTGTCAACTTTTATTAT... | TCAGCTACAATATTATAGTAGCTGCACTACGATAATATTTCGGACCACCCGGATGGTGATTTTCCTGTTCTTTAACTGGCTCTGGGACCTTGGTCAAGTTCTTTAACGTTGGAGACTCTGGTTTCGCGTGTGTAAAATGGTCACAGGAATGGTATTTATCTCCCTTGAGATTGTTGAGGGGATTGCATGGAAGACTTGTAAAAATATGCATGCTAAAAACATGTTGTTCAGTAAATACCTGCTACTGTTATTGTTACTTTATTATTAAGTTATTCGGTTGACTCTACCAATGACTTATACTTCCTGTCAACTTTTATTAT... | benign | 318,883 |
The chromosome 21, position 37478249 genetic variant in gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['DYRK1A-related_intellectual_disability_syndrome'] | GGGACCTTGGTCAAGTTCTTTAACGTTGGAGACTCTGGTTTCGCGTGTGTAAAATGGTCACAGGAATGGTATTTATCTCCCTTGAGATTGTTGAGGGGATTGCATGGAAGACTTGTAAAAATATGCATGCTAAAAACATGTTGTTCAGTAAATACCTGCTACTGTTATTGTTACTTTATTATTAAGTTATTCGGTTGACTCTACCAATGACTTATACTTCCTGTCAACTTTTATTATAGCAGTAATGAAGCATTGCACTGATTCAGATTTTGTGAAACCTCACATTTAGGCTGCACTCCACCAGCCCAAGAAAGGGGCTT... | GGGACCTTGGTCAAGTTCTTTAACGTTGGAGACTCTGGTTTCGCGTGTGTAAAATGGTCACAGGAATGGTATTTATCTCCCTTGAGATTGTTGAGGGGATTGCATGGAAGACTTGTAAAAATATGCATGCTAAAAACATGTTGTTCAGTAAATACCTGCTACTGTTATTGTTACTTTATTATTAAGTTATTCGGTTGACTCTACCAATGACTTATACTTCCTGTCAACTTTTATTATAGCAGTAATGAAGCATTGCACTGATTCAGATTTTGTGAAACCTCACATTTAGGCTGCACTCCACCAGCCCAAGAAAGGGGCTT... | pathogenic | 318,888 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 21, position 37478261, gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A). What disease(s) is it linked to if pathogenic? | pathogenic; ['DYRK1A-related_intellectual_disability_syndrome', 'Intellectual_disability'] | AAGTTCTTTAACGTTGGAGACTCTGGTTTCGCGTGTGTAAAATGGTCACAGGAATGGTATTTATCTCCCTTGAGATTGTTGAGGGGATTGCATGGAAGACTTGTAAAAATATGCATGCTAAAAACATGTTGTTCAGTAAATACCTGCTACTGTTATTGTTACTTTATTATTAAGTTATTCGGTTGACTCTACCAATGACTTATACTTCCTGTCAACTTTTATTATAGCAGTAATGAAGCATTGCACTGATTCAGATTTTGTGAAACCTCACATTTAGGCTGCACTCCACCAGCCCAAGAAAGGGGCTTACTGAATAAACT... | AAGTTCTTTAACGTTGGAGACTCTGGTTTCGCGTGTGTAAAATGGTCACAGGAATGGTATTTATCTCCCTTGAGATTGTTGAGGGGATTGCATGGAAGACTTGTAAAAATATGCATGCTAAAAACATGTTGTTCAGTAAATACCTGCTACTGTTATTGTTACTTTATTATTAAGTTATTCGGTTGACTCTACCAATGACTTATACTTCCTGTCAACTTTTATTATAGCAGTAATGAAGCATTGCACTGATTCAGATTTTGTGAAACCTCACATTTAGGCTGCACTCCACCAGCCCAAGAAAGGGGCTTACTGAATAAACT... | pathogenic | 318,889 |
Does the chromosome 21 mutation at position 37480756 within gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['DYRK1A-related_intellectual_disability_syndrome', 'Inborn_genetic_diseases'] | GCTCTGAAATATGTTTAATACCTAGTTACAGGCATTTGGCCTAGTTTATTTGATCTATCTATATTTCTGTGATTTTATTGTCTTTTAACTTTTTATGTGTGTTCTTTTATCTATATCTTTTTATGATAAGATGTCCAGAAGCTTTTTTGTTGTAAGTAAATAAGATAAAAAACAGACACAGCACTTTGAATTCCTTGCCTGTACTTGGTGTTTTGCCACCGAAAATTTTTCTGGTGTCTTGGACCATTGGCTTCATTGCCATTTGCTTGTGGCTTCAACTCTGTCTCCAAAGTTAATTATTAAAGGAGCATTTCTGGAGA... | GCTCTGAAATATGTTTAATACCTAGTTACAGGCATTTGGCCTAGTTTATTTGATCTATCTATATTTCTGTGATTTTATTGTCTTTTAACTTTTTATGTGTGTTCTTTTATCTATATCTTTTTATGATAAGATGTCCAGAAGCTTTTTTGTTGTAAGTAAATAAGATAAAAAACAGACACAGCACTTTGAATTCCTTGCCTGTACTTGGTGTTTTGCCACCGAAAATTTTTCTGGTGTCTTGGACCATTGGCTTCATTGCCATTTGCTTGTGGCTTCAACTCTGTCTCCAAAGTTAATTATTAAAGGAGCATTTCTGGAGA... | pathogenic | 318,900 |
Determine whether the variant at chromosome 21, position 37480785, in gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['DYRK1A-related_intellectual_disability_syndrome'] | AGGCATTTGGCCTAGTTTATTTGATCTATCTATATTTCTGTGATTTTATTGTCTTTTAACTTTTTATGTGTGTTCTTTTATCTATATCTTTTTATGATAAGATGTCCAGAAGCTTTTTTGTTGTAAGTAAATAAGATAAAAAACAGACACAGCACTTTGAATTCCTTGCCTGTACTTGGTGTTTTGCCACCGAAAATTTTTCTGGTGTCTTGGACCATTGGCTTCATTGCCATTTGCTTGTGGCTTCAACTCTGTCTCCAAAGTTAATTATTAAAGGAGCATTTCTGGAGAAGAATCCATGCTTTCTTTCCTCTTCTAGT... | AGGCATTTGGCCTAGTTTATTTGATCTATCTATATTTCTGTGATTTTATTGTCTTTTAACTTTTTATGTGTGTTCTTTTATCTATATCTTTTTATGATAAGATGTCCAGAAGCTTTTTTGTTGTAAGTAAATAAGATAAAAAACAGACACAGCACTTTGAATTCCTTGCCTGTACTTGGTGTTTTGCCACCGAAAATTTTTCTGGTGTCTTGGACCATTGGCTTCATTGCCATTTGCTTGTGGCTTCAACTCTGTCTCCAAAGTTAATTATTAAAGGAGCATTTCTGGAGAAGAATCCATGCTTTCTTTCCTCTTCTAGT... | pathogenic | 318,901 |
Is the genetic mutation found on chromosome 21 at position 37486511, within the gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['DYRK1A-related_intellectual_disability_syndrome'] | GGATTGCAGGTGCCCCCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGATGGGATTTCACCACGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAATCATGCTGGGATTACAGGCATGAGCTGCTGTACAGGGCCTAATAGCTTACTTTCTAACTTTCCTGACATCTACCATGCAAATTGTAGCCATACAGGCTGCTCTGTAAGCTGATTGGCCCCTGATGACTCAGTCTTTGTGCTCATAGTTAGGTTTTTCTTCTCCCCTTCACCTTAGTTTTCTCATACTCAGA... | GGATTGCAGGTGCCCCCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGATGGGATTTCACCACGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAATCATGCTGGGATTACAGGCATGAGCTGCTGTACAGGGCCTAATAGCTTACTTTCTAACTTTCCTGACATCTACCATGCAAATTGTAGCCATACAGGCTGCTCTGTAAGCTGATTGGCCCCTGATGACTCAGTCTTTGTGCTCATAGTTAGGTTTTTCTTCTCCCCTTCACCTTAGTTTTCTCATACTCAGA... | pathogenic | 318,910 |
The chromosome 21, position 37486516 genetic variant in gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['DYRK1A-related_intellectual_disability_syndrome'] | GCAGGTGCCCCCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGATGGGATTTCACCACGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAATCATGCTGGGATTACAGGCATGAGCTGCTGTACAGGGCCTAATAGCTTACTTTCTAACTTTCCTGACATCTACCATGCAAATTGTAGCCATACAGGCTGCTCTGTAAGCTGATTGGCCCCTGATGACTCAGTCTTTGTGCTCATAGTTAGGTTTTTCTTCTCCCCTTCACCTTAGTTTTCTCATACTCAGATTCCA... | GCAGGTGCCCCCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGATGGGATTTCACCACGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAATCATGCTGGGATTACAGGCATGAGCTGCTGTACAGGGCCTAATAGCTTACTTTCTAACTTTCCTGACATCTACCATGCAAATTGTAGCCATACAGGCTGCTCTGTAAGCTGATTGGCCCCTGATGACTCAGTCTTTGTGCTCATAGTTAGGTTTTTCTTCTCCCCTTCACCTTAGTTTTCTCATACTCAGATTCCA... | pathogenic | 318,911 |
Is the genetic change at chromosome 21, position 37486519, within gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Complex_neurodevelopmental_disorder', 'DYRK1A-related_intellectual_disability_syndrome'] | GGTGCCCCCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGATGGGATTTCACCACGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAATCATGCTGGGATTACAGGCATGAGCTGCTGTACAGGGCCTAATAGCTTACTTTCTAACTTTCCTGACATCTACCATGCAAATTGTAGCCATACAGGCTGCTCTGTAAGCTGATTGGCCCCTGATGACTCAGTCTTTGTGCTCATAGTTAGGTTTTTCTTCTCCCCTTCACCTTAGTTTTCTCATACTCAGATTCCACAG... | GGTGCCCCCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGATGGGATTTCACCACGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAATCATGCTGGGATTACAGGCATGAGCTGCTGTACAGGGCCTAATAGCTTACTTTCTAACTTTCCTGACATCTACCATGCAAATTGTAGCCATACAGGCTGCTCTGTAAGCTGATTGGCCCCTGATGACTCAGTCTTTGTGCTCATAGTTAGGTTTTTCTTCTCCCCTTCACCTTAGTTTTCTCATACTCAGATTCCACAG... | pathogenic | 318,912 |
Does the variant impacting DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A) on chromosome 21, position 37486616, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATCCGCCTGCCTTGGCCTCCCAAATCATGCTGGGATTACAGGCATGAGCTGCTGTACAGGGCCTAATAGCTTACTTTCTAACTTTCCTGACATCTACCATGCAAATTGTAGCCATACAGGCTGCTCTGTAAGCTGATTGGCCCCTGATGACTCAGTCTTTGTGCTCATAGTTAGGTTTTTCTTCTCCCCTTCACCTTAGTTTTCTCATACTCAGATTCCACAGAACAAGTGAGCACAGGAACCCTGTGACGATAGAGTCCTGCTTGACGTTGAACTCCTTTTTCCCAGGGCAGACTGATACTTCCCCTCTTGGGCTGAGG... | ATCCGCCTGCCTTGGCCTCCCAAATCATGCTGGGATTACAGGCATGAGCTGCTGTACAGGGCCTAATAGCTTACTTTCTAACTTTCCTGACATCTACCATGCAAATTGTAGCCATACAGGCTGCTCTGTAAGCTGATTGGCCCCTGATGACTCAGTCTTTGTGCTCATAGTTAGGTTTTTCTTCTCCCCTTCACCTTAGTTTTCTCATACTCAGATTCCACAGAACAAGTGAGCACAGGAACCCTGTGACGATAGAGTCCTGCTTGACGTTGAACTCCTTTTTCCCAGGGCAGACTGATACTTCCCCTCTTGGGCTGAGG... | benign | 318,916 |
A mutation at chromosome position 37490163 on chromosome 21 in gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['DYRK1A-related_intellectual_disability_syndrome', 'Intellectual_disability'] | ATGTTAGCTACTCAGTTATGTATAATGCTAGTATTTTGTTTTGAATAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTAT... | ATGTTAGCTACTCAGTTATGTATAATGCTAGTATTTTGTTTTGAATAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTAT... | pathogenic | 318,919 |
Evaluate this variant at chromosome 21, position 37490193, gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Complex_neurodevelopmental_disorder', 'DYRK1A-related_intellectual_disability_syndrome', 'Inborn_genetic_diseases'] | GTATTTTGTTTTGAATAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCT... | GTATTTTGTTTTGAATAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCT... | pathogenic | 318,921 |
Is the genetic mutation found on chromosome 21 at position 37490208, within the gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['DYRK1A-related_intellectual_disability_syndrome'] | TAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGT... | TAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGT... | pathogenic | 318,923 |
Considering the genetic mutation at chromosome 21, position 37490283, impacting DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['DYRK1A-related_intellectual_disability_syndrome'] | TTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAAC... | TTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAAC... | pathogenic | 318,927 |
Considering the genetic mutation at chromosome 21, position 37490461, impacting DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Complex_neurodevelopmental_disorder', 'DYRK1A-related_intellectual_disability_syndrome'] | GATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGTCTTGCCAGCCCTCCATTCTCCCCAAAATTTGGTTAAAAAGACTGAACAAATATGCTTGTTTGAGCTTTCTTTGACAATGTCTTTAGTGCTCAGCACACTGTAGATACTAAGTAAATGAATAAAGAATTGTGAGGTCAAGTGAAACTAAGTAGATCTTTCATTGGACGAACATT... | GATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGTCTTGCCAGCCCTCCATTCTCCCCAAAATTTGGTTAAAAAGACTGAACAAATATGCTTGTTTGAGCTTTCTTTGACAATGTCTTTAGTGCTCAGCACACTGTAGATACTAAGTAAATGAATAAAGAATTGTGAGGTCAAGTGAAACTAAGTAGATCTTTCATTGGACGAACATT... | pathogenic | 318,939 |
Considering the variant on chromosome 21, location 37493113, involving gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['DYRK1A-related_intellectual_disability_syndrome'] | TAGACTTACTTGTTTTGATAAATAAGTTTGTCTTATTTTCCCCACTCTTATTTAAAATTTACATAAATTCTGACACATATCCAAGCTGGTTTTTTTCAGACTGCTAAAAACAGATGTGTTCGTAGTGCTGATAAGTTTAGCTGATTTAGGAAAGCAGTTTTTTCCTGTCATTCTTCCAGCATTATGAAAACTACTCTAACAGCATTGTTTTATGTATAAAATAGAAGTGATAGGGGTCTCCTCTTGAAAGGAATTAGTGTCACCATTTGATAATATTTTACTCATTTTAAGCACTATTCTTTTTGCTTTAAGTATTGAAA... | TAGACTTACTTGTTTTGATAAATAAGTTTGTCTTATTTTCCCCACTCTTATTTAAAATTTACATAAATTCTGACACATATCCAAGCTGGTTTTTTTCAGACTGCTAAAAACAGATGTGTTCGTAGTGCTGATAAGTTTAGCTGATTTAGGAAAGCAGTTTTTTCCTGTCATTCTTCCAGCATTATGAAAACTACTCTAACAGCATTGTTTTATGTATAAAATAGAAGTGATAGGGGTCTCCTCTTGAAAGGAATTAGTGTCACCATTTGATAATATTTTACTCATTTTAAGCACTATTCTTTTTGCTTTAAGTATTGAAA... | pathogenic | 318,953 |
Gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A) variant at chromosome position 37496233 on chromosome 21: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['DYRK1A-related_intellectual_disability_syndrome'] | CCCAGCCCCTTTTAATTCATTTCAACTTGAACTGGTGAGCTACTCTTTTATAGTAACTGTCATAGTTTGTTTTTTTTTTTAGTATAAATCTTACTGTGTAAATTAGTATCTTTCTTGGGCTTAAACAATATTAAAAAAACTTTGCCATGTTACTCATTGTAAAGGCCGAGGTCCTTTGAGTAACCCACAGATTCCTACTTCCTCTGATGCCAGTTCTCTCACCACCACCTGGTCTCTCCTTCTCCCCTCACTCTGTGGTCCCTTGAAAACGCCAGCTACAGGCCCATAGCCCTTTGTATTTCTTCCTTCCTGTGCCTAAA... | CCCAGCCCCTTTTAATTCATTTCAACTTGAACTGGTGAGCTACTCTTTTATAGTAACTGTCATAGTTTGTTTTTTTTTTTAGTATAAATCTTACTGTGTAAATTAGTATCTTTCTTGGGCTTAAACAATATTAAAAAAACTTTGCCATGTTACTCATTGTAAAGGCCGAGGTCCTTTGAGTAACCCACAGATTCCTACTTCCTCTGATGCCAGTTCTCTCACCACCACCTGGTCTCTCCTTCTCCCCTCACTCTGTGGTCCCTTGAAAACGCCAGCTACAGGCCCATAGCCCTTTGTATTTCTTCCTTCCTGTGCCTAAA... | pathogenic | 318,962 |
A genetic variant on chromosome 21, position 37512066, affects the gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AGATTATCAGATCAAAAAACATAGTATATAGAGGGTTTAGTCCTCTGCAGTTTCAGGCATCCAGTGGGGATCTTGGACTGTATCTCTTGTGGATAAGGAGGCACCACTGTACATGTCTCATTCACACATAGACATTTTATCTGTGATATAAATTCCTGAAAGCAGAATGACTGTTTCAAAGGGTAATGTGATTTATAATTTTGATAACTATTGCCAGATTGCCCCCCATGTGATTTTCTAATCCAGTAACTTGATTAACTTCATATAAAAACCATATAGTATTTTCTGAGAACTCACTGCCAGCTTTTCTACTGATTGTT... | AGATTATCAGATCAAAAAACATAGTATATAGAGGGTTTAGTCCTCTGCAGTTTCAGGCATCCAGTGGGGATCTTGGACTGTATCTCTTGTGGATAAGGAGGCACCACTGTACATGTCTCATTCACACATAGACATTTTATCTGTGATATAAATTCCTGAAAGCAGAATGACTGTTTCAAAGGGTAATGTGATTTATAATTTTGATAACTATTGCCAGATTGCCCCCCATGTGATTTTCTAATCCAGTAACTTGATTAACTTCATATAAAAACCATATAGTATTTTCTGAGAACTCACTGCCAGCTTTTCTACTGATTGTT... | benign | 319,007 |
Located at chromosome 21 position 37512066, the variant affecting gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AGATTATCAGATCAAAAAACATAGTATATAGAGGGTTTAGTCCTCTGCAGTTTCAGGCATCCAGTGGGGATCTTGGACTGTATCTCTTGTGGATAAGGAGGCACCACTGTACATGTCTCATTCACACATAGACATTTTATCTGTGATATAAATTCCTGAAAGCAGAATGACTGTTTCAAAGGGTAATGTGATTTATAATTTTGATAACTATTGCCAGATTGCCCCCCATGTGATTTTCTAATCCAGTAACTTGATTAACTTCATATAAAAACCATATAGTATTTTCTGAGAACTCACTGCCAGCTTTTCTACTGATTGTT... | AGATTATCAGATCAAAAAACATAGTATATAGAGGGTTTAGTCCTCTGCAGTTTCAGGCATCCAGTGGGGATCTTGGACTGTATCTCTTGTGGATAAGGAGGCACCACTGTACATGTCTCATTCACACATAGACATTTTATCTGTGATATAAATTCCTGAAAGCAGAATGACTGTTTCAAAGGGTAATGTGATTTATAATTTTGATAACTATTGCCAGATTGCCCCCCATGTGATTTTCTAATCCAGTAACTTGATTAACTTCATATAAAAACCATATAGTATTTTCTGAGAACTCACTGCCAGCTTTTCTACTGATTGTT... | benign | 319,008 |
Classify the chromosome 21 variant at position 37512072 affecting gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TCAGATCAAAAAACATAGTATATAGAGGGTTTAGTCCTCTGCAGTTTCAGGCATCCAGTGGGGATCTTGGACTGTATCTCTTGTGGATAAGGAGGCACCACTGTACATGTCTCATTCACACATAGACATTTTATCTGTGATATAAATTCCTGAAAGCAGAATGACTGTTTCAAAGGGTAATGTGATTTATAATTTTGATAACTATTGCCAGATTGCCCCCCATGTGATTTTCTAATCCAGTAACTTGATTAACTTCATATAAAAACCATATAGTATTTTCTGAGAACTCACTGCCAGCTTTTCTACTGATTGTTTTCAGT... | TCAGATCAAAAAACATAGTATATAGAGGGTTTAGTCCTCTGCAGTTTCAGGCATCCAGTGGGGATCTTGGACTGTATCTCTTGTGGATAAGGAGGCACCACTGTACATGTCTCATTCACACATAGACATTTTATCTGTGATATAAATTCCTGAAAGCAGAATGACTGTTTCAAAGGGTAATGTGATTTATAATTTTGATAACTATTGCCAGATTGCCCCCCATGTGATTTTCTAATCCAGTAACTTGATTAACTTCATATAAAAACCATATAGTATTTTCTGAGAACTCACTGCCAGCTTTTCTACTGATTGTTTTCAGT... | benign | 319,009 |
Evaluate if the mutation on chromosome 21 at position 42380156 in TMPRSS3 (transmembrane serine protease 3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | TAGAAAGGCCCTGGACCAGCCACACTGGCACAGAACTGGGCCTGGGCCATGTGGGTGGGTTGGAAACTACAGAGAGCTGTGAGTGCCCTCGGCCAGGTGGGCAGCACTGCCAGTGGGTGGGGGGTAAGTAGGCCCACAGACTCGAAGCATCCGGGTTAGCTCCTGGGTGCCTTCAGCTGGGGGTGGGCTCAAGTAATTGGTGTTGAGTGGAAAACACTGAAATTCCTGTGTTAGGTTGAACTGTGGGCCCCTCCAAAATATGCCTACCTGCCACTATGGAGCCCAACCTTATTTGGAACAGGGTCTTTGCAGATGTAATT... | TAGAAAGGCCCTGGACCAGCCACACTGGCACAGAACTGGGCCTGGGCCATGTGGGTGGGTTGGAAACTACAGAGAGCTGTGAGTGCCCTCGGCCAGGTGGGCAGCACTGCCAGTGGGTGGGGGGTAAGTAGGCCCACAGACTCGAAGCATCCGGGTTAGCTCCTGGGTGCCTTCAGCTGGGGGTGGGCTCAAGTAATTGGTGTTGAGTGGAAAACACTGAAATTCCTGTGTTAGGTTGAACTGTGGGCCCCTCCAAAATATGCCTACCTGCCACTATGGAGCCCAACCTTATTTGGAACAGGGTCTTTGCAGATGTAATT... | pathogenic | 319,183 |
Considering the genetic mutation at chromosome 21, position 42380165, impacting TMPRSS3 (transmembrane serine protease 3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_8'] | CCTGGACCAGCCACACTGGCACAGAACTGGGCCTGGGCCATGTGGGTGGGTTGGAAACTACAGAGAGCTGTGAGTGCCCTCGGCCAGGTGGGCAGCACTGCCAGTGGGTGGGGGGTAAGTAGGCCCACAGACTCGAAGCATCCGGGTTAGCTCCTGGGTGCCTTCAGCTGGGGGTGGGCTCAAGTAATTGGTGTTGAGTGGAAAACACTGAAATTCCTGTGTTAGGTTGAACTGTGGGCCCCTCCAAAATATGCCTACCTGCCACTATGGAGCCCAACCTTATTTGGAACAGGGTCTTTGCAGATGTAATTAAGGTAAGA... | CCTGGACCAGCCACACTGGCACAGAACTGGGCCTGGGCCATGTGGGTGGGTTGGAAACTACAGAGAGCTGTGAGTGCCCTCGGCCAGGTGGGCAGCACTGCCAGTGGGTGGGGGGTAAGTAGGCCCACAGACTCGAAGCATCCGGGTTAGCTCCTGGGTGCCTTCAGCTGGGGGTGGGCTCAAGTAATTGGTGTTGAGTGGAAAACACTGAAATTCCTGTGTTAGGTTGAACTGTGGGCCCCTCCAAAATATGCCTACCTGCCACTATGGAGCCCAACCTTATTTGGAACAGGGTCTTTGCAGATGTAATTAAGGTAAGA... | pathogenic | 319,184 |
Does the genetic variant at chromosome 21, position 42383171, impacting gene TMPRSS3 (transmembrane serine protease 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_8'] | TATTATGCTTTCCCTGCTTTCTTAAGAAGGAAAGAGGGCTTTAATTTAATTGGGAGTAGTCTCCTAGTACTTTGTTTGCATCTACGAGATGTTTGAAAGTTTTATCAGGTGTGGCTCTTCTGGCATTTTCGTAATGTCCAGAGGGCAGGGCTTGACTTTTTCAAGAAACAGGGTCTTTAGGAGCTGCTGGTTGGGAGAGAACTTTTCTGTACTTCCAGGGAGCTGAGGGTGCCCAGCATCTTTCAGCTTGTAAAGAAATGAGAGGACTCCACCACACCACCTGGCCAGCCTGGGAGGTTCTGTTTCTCAACCAAGATGGC... | TATTATGCTTTCCCTGCTTTCTTAAGAAGGAAAGAGGGCTTTAATTTAATTGGGAGTAGTCTCCTAGTACTTTGTTTGCATCTACGAGATGTTTGAAAGTTTTATCAGGTGTGGCTCTTCTGGCATTTTCGTAATGTCCAGAGGGCAGGGCTTGACTTTTTCAAGAAACAGGGTCTTTAGGAGCTGCTGGTTGGGAGAGAACTTTTCTGTACTTCCAGGGAGCTGAGGGTGCCCAGCATCTTTCAGCTTGTAAAGAAATGAGAGGACTCCACCACACCACCTGGCCAGCCTGGGAGGTTCTGTTTCTCAACCAAGATGGC... | pathogenic | 319,201 |
Regarding the variant found on chromosome 21 at position 42383199 in gene TMPRSS3 (transmembrane serine protease 3): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GGAAAGAGGGCTTTAATTTAATTGGGAGTAGTCTCCTAGTACTTTGTTTGCATCTACGAGATGTTTGAAAGTTTTATCAGGTGTGGCTCTTCTGGCATTTTCGTAATGTCCAGAGGGCAGGGCTTGACTTTTTCAAGAAACAGGGTCTTTAGGAGCTGCTGGTTGGGAGAGAACTTTTCTGTACTTCCAGGGAGCTGAGGGTGCCCAGCATCTTTCAGCTTGTAAAGAAATGAGAGGACTCCACCACACCACCTGGCCAGCCTGGGAGGTTCTGTTTCTCAACCAAGATGGCCCCTCTACCTGGAGAAACCAGGCAGGTG... | GGAAAGAGGGCTTTAATTTAATTGGGAGTAGTCTCCTAGTACTTTGTTTGCATCTACGAGATGTTTGAAAGTTTTATCAGGTGTGGCTCTTCTGGCATTTTCGTAATGTCCAGAGGGCAGGGCTTGACTTTTTCAAGAAACAGGGTCTTTAGGAGCTGCTGGTTGGGAGAGAACTTTTCTGTACTTCCAGGGAGCTGAGGGTGCCCAGCATCTTTCAGCTTGTAAAGAAATGAGAGGACTCCACCACACCACCTGGCCAGCCTGGGAGGTTCTGTTTCTCAACCAAGATGGCCCCTCTACCTGGAGAAACCAGGCAGGTG... | benign | 319,202 |
Evaluate if the mutation on chromosome 21 at position 42384006 in TMPRSS3 (transmembrane serine protease 3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_8', 'Hearing_impairment', 'Rare_genetic_deafness'] | CTGACAAGGATTATAAAGCAGCCATCATAAGAATGCTTCAATGAGCAATTGCAAATCCTCTTGAAACAAAGGAAGAGCTGCAGAACCACATAGAGACCCAGATGTACCATTGAACGTGAGTGGCCCGGCCAGCTTCATAAGGGCGATGTCATTGCCCAGCCTCTTTGGCTTGTACTTGCTGTGGTAGACAATCTTCTCCACCAAGTGGGATGGGGCTGGATTGTCCAACAGGGAAACTAGACCCACCTGGATGGTCCATGACTTGGGGAGGTACAAGCTGAAATGAGAAGAGCAAGAGGTGAAGCACAGGAAAAGTCCAA... | CTGACAAGGATTATAAAGCAGCCATCATAAGAATGCTTCAATGAGCAATTGCAAATCCTCTTGAAACAAAGGAAGAGCTGCAGAACCACATAGAGACCCAGATGTACCATTGAACGTGAGTGGCCCGGCCAGCTTCATAAGGGCGATGTCATTGCCCAGCCTCTTTGGCTTGTACTTGCTGTGGTAGACAATCTTCTCCACCAAGTGGGATGGGGCTGGATTGTCCAACAGGGAAACTAGACCCACCTGGATGGTCCATGACTTGGGGAGGTACAAGCTGAAATGAGAAGAGCAAGAGGTGAAGCACAGGAAAAGTCCAA... | pathogenic | 319,206 |
Variant on chromosome 21, at position 42388416, affecting TMPRSS3 (transmembrane serine protease 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_8'] | CAAGGCGGCGGGCACGACCTTCGCAGCCCTTCCAGGGATTGCTCAATGCACGGATTCCGCTGGCACTGGCATGAAAGAGCCGATGGTTGCTGGGATGGCTTGGCCCCAGTGCAGGTGGCGGGGCTTGTGCCAGGCAAGGGGACCCCAGTGCTGCAACTGGAGCCCCATGAACTGTCCAAGTCTCAAAATGGTAACAATGACAGCCACAACCACACACTCGCCCAGTGTGCTCTTGCCCACCAAGCCCTTCCACACTCACAGCGTCAGCGGAACTTCAGTTCCCCTCCAAGTACGTGCTATTATCATCCCTCTTTTCTAAG... | CAAGGCGGCGGGCACGACCTTCGCAGCCCTTCCAGGGATTGCTCAATGCACGGATTCCGCTGGCACTGGCATGAAAGAGCCGATGGTTGCTGGGATGGCTTGGCCCCAGTGCAGGTGGCGGGGCTTGTGCCAGGCAAGGGGACCCCAGTGCTGCAACTGGAGCCCCATGAACTGTCCAAGTCTCAAAATGGTAACAATGACAGCCACAACCACACACTCGCCCAGTGTGCTCTTGCCCACCAAGCCCTTCCACACTCACAGCGTCAGCGGAACTTCAGTTCCCCTCCAAGTACGTGCTATTATCATCCCTCTTTTCTAAG... | pathogenic | 319,215 |
Determine whether the variant at chromosome 21, position 42389042, in gene TMPRSS3 (transmembrane serine protease 3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_8', 'Hearing_impairment', 'Inborn_genetic_diseases', 'Nonsyndromic_genetic_hearing_loss', 'Rare_genetic_deafness', 'TMPRSS3-related_disorder'] | CATCGCATTCCCTGGATTTCCTTGTAGAGGGAGCATATTAAGGATGAGAAGGAATATTTTACCAAACGGGCTGGGGTGGAAGAGAGACGGGAAGGCTACCCCCACCATGAGTGGCCTCTACCTGATGCCTGGGACAGCTGGGGCTCCTGACTTGGGTCTGCTGGGTGGGGAAGGAGAGGGATTGAGCTGAGTTTTTCTGCATAACAGAGCAGAGAGGCCTTGGGGTTTGCTCAGACAGAGCGGTGGTCCTCCAGGACAGAGGAGGAGGGCAGAGAGAAGAGAAAAGGAGGCCCCCCAACACCCCCCACCCAATGAGTCAG... | CATCGCATTCCCTGGATTTCCTTGTAGAGGGAGCATATTAAGGATGAGAAGGAATATTTTACCAAACGGGCTGGGGTGGAAGAGAGACGGGAAGGCTACCCCCACCATGAGTGGCCTCTACCTGATGCCTGGGACAGCTGGGGCTCCTGACTTGGGTCTGCTGGGTGGGGAAGGAGAGGGATTGAGCTGAGTTTTTCTGCATAACAGAGCAGAGAGGCCTTGGGGTTTGCTCAGACAGAGCGGTGGTCCTCCAGGACAGAGGAGGAGGGCAGAGAGAAGAGAAAAGGAGGCCCCCCAACACCCCCCACCCAATGAGTCAG... | pathogenic | 319,237 |
Classify the chromosome 21 variant at position 42477271 affecting gene RSPH1 (radial spoke head component 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CATCCAAACCCATTGAAAAAGAGCTAGTTCCCGACACCACTAGTCTGAAACCATACTCCTGTTAGTCAGCCCTGCTAAAAATCATGCAAATCCCAGCACTTTGGGAGGCCGAGGCGGGCCTCCTGTGTGAGGTCAGGAGTTTGAGACCAGTCTGTCCAACACGGTGAAACCCACCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTTGGGATGCTGAGGCAGGGGAATTGCTTGAACCAGTGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGTACTCCAGCCT... | CATCCAAACCCATTGAAAAAGAGCTAGTTCCCGACACCACTAGTCTGAAACCATACTCCTGTTAGTCAGCCCTGCTAAAAATCATGCAAATCCCAGCACTTTGGGAGGCCGAGGCGGGCCTCCTGTGTGAGGTCAGGAGTTTGAGACCAGTCTGTCCAACACGGTGAAACCCACCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTTGGGATGCTGAGGCAGGGGAATTGCTTGAACCAGTGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGTACTCCAGCCT... | benign | 319,271 |
A genetic alteration at chromosome 21, position 43053969, in gene CBS (cystathionine beta-synthase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED', 'Homocystinuria'] | CTGAGGCAGGAGAACTGCTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCTACTGCATTCCAGCCTGGGCGACAGAGAAAGACTCTGTCTCAAAACAATAAAAAATACGAAACACAAAAATTAGCTGGGCGTGGTGTTGGGAACTTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATAGCTTGAACCCAGGAGGTGAAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGTAAAAAGATAACCTACAGAATGGGAGA... | CTGAGGCAGGAGAACTGCTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCTACTGCATTCCAGCCTGGGCGACAGAGAAAGACTCTGTCTCAAAACAATAAAAAATACGAAACACAAAAATTAGCTGGGCGTGGTGTTGGGAACTTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATAGCTTGAACCCAGGAGGTGAAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGTAAAAAGATAACCTACAGAATGGGAGA... | pathogenic | 319,364 |
Evaluate if the mutation on chromosome 21 at position 43056855 in CBS (cystathionine beta-synthase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED'] | TGAGGCAGAAGGATCAGTTGAGCACAGCAGGTCGAGGCTGCAGCGAGCTATGATGGCACTACTGCACTCCAGTCGGCAACAGAGCAAGACCCTGTCTCTAAAAACAGACAAAAACCCCTTGCCACCATGGGCAGCACACAGCTTCCATCTCTGGCCTGATTCTGTCTTCACCCCTCCTGCTTTCTCCTGGCAAGCGTAGACCCGGTGTTAATGCTGGCCGAGGCTCCCATGCCACATACCCAGACAGGGCTGTTGTGATGGTTAATTTTAATACAGATTAACGGGGCCGTGGGAGCCCAGGCATTGGTCACACGTCGTTC... | TGAGGCAGAAGGATCAGTTGAGCACAGCAGGTCGAGGCTGCAGCGAGCTATGATGGCACTACTGCACTCCAGTCGGCAACAGAGCAAGACCCTGTCTCTAAAAACAGACAAAAACCCCTTGCCACCATGGGCAGCACACAGCTTCCATCTCTGGCCTGATTCTGTCTTCACCCCTCCTGCTTTCTCCTGGCAAGCGTAGACCCGGTGTTAATGCTGGCCGAGGCTCCCATGCCACATACCCAGACAGGGCTGTTGTGATGGTTAATTTTAATACAGATTAACGGGGCCGTGGGAGCCCAGGCATTGGTCACACGTCGTTC... | pathogenic | 319,375 |
Regarding the variant found on chromosome 21 at position 43059054 in gene CBS (cystathionine beta-synthase): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CGTGGGAAATACGTGGATTCGGGTGACGTCTCGGGTGTGTGTGTGAGATGGGAAAGAAGTCGAATTCACTCCTAGGTTTGGGCAGAACCCTCAGCCTTTCCAGTGTCAAGAGCCACACCTGCATGTCCCAGGGGATCCGTGTGGAAGGTCACACAAACTTTCCTGGGCCACCCTCAGGGCAGCAGAGGGTGGGTGTCTCAGGACAACCACGGAGTCTGACCAGCCCGGCAAGGAGCCACCGTGGGCTTCTCCCAGAATGTTCTAGCTCTTGTTGGATAACCAAGTGCATGCACAGGCAAATGAGGCTGGGCAGGAGAAAG... | CGTGGGAAATACGTGGATTCGGGTGACGTCTCGGGTGTGTGTGTGAGATGGGAAAGAAGTCGAATTCACTCCTAGGTTTGGGCAGAACCCTCAGCCTTTCCAGTGTCAAGAGCCACACCTGCATGTCCCAGGGGATCCGTGTGGAAGGTCACACAAACTTTCCTGGGCCACCCTCAGGGCAGCAGAGGGTGGGTGTCTCAGGACAACCACGGAGTCTGACCAGCCCGGCAAGGAGCCACCGTGGGCTTCTCCCAGAATGTTCTAGCTCTTGTTGGATAACCAAGTGCATGCACAGGCAAATGAGGCTGGGCAGGAGAAAG... | benign | 319,419 |
Regarding the variant found on chromosome 21 at position 43059227 in gene CBS (cystathionine beta-synthase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED', 'Homocystinuria'] | TCAGGGCAGCAGAGGGTGGGTGTCTCAGGACAACCACGGAGTCTGACCAGCCCGGCAAGGAGCCACCGTGGGCTTCTCCCAGAATGTTCTAGCTCTTGTTGGATAACCAAGTGCATGCACAGGCAAATGAGGCTGGGCAGGAGAAAGACCCCGGCAGACGCCGCATGGTGCCCGGGACAGCCTCTGAGCGCGAATGACCTCCTTAAGTCCCCAAAACACGGCTGGTGTGGATGAGCCTGCACTGATGAGAGCCTGCTCTCCGGCTGCTGCACTTGTAAAGTGGGTGCTTCTCAGCTTCATGGTTTGAGGGGTGCAGCCAG... | TCAGGGCAGCAGAGGGTGGGTGTCTCAGGACAACCACGGAGTCTGACCAGCCCGGCAAGGAGCCACCGTGGGCTTCTCCCAGAATGTTCTAGCTCTTGTTGGATAACCAAGTGCATGCACAGGCAAATGAGGCTGGGCAGGAGAAAGACCCCGGCAGACGCCGCATGGTGCCCGGGACAGCCTCTGAGCGCGAATGACCTCCTTAAGTCCCCAAAACACGGCTGGTGTGGATGAGCCTGCACTGATGAGAGCCTGCTCTCCGGCTGCTGCACTTGTAAAGTGGGTGCTTCTCAGCTTCATGGTTTGAGGGGTGCAGCCAG... | pathogenic | 319,423 |
Regarding the variant found on chromosome 21 at position 43059230 in gene CBS (cystathionine beta-synthase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED'] | GGGCAGCAGAGGGTGGGTGTCTCAGGACAACCACGGAGTCTGACCAGCCCGGCAAGGAGCCACCGTGGGCTTCTCCCAGAATGTTCTAGCTCTTGTTGGATAACCAAGTGCATGCACAGGCAAATGAGGCTGGGCAGGAGAAAGACCCCGGCAGACGCCGCATGGTGCCCGGGACAGCCTCTGAGCGCGAATGACCTCCTTAAGTCCCCAAAACACGGCTGGTGTGGATGAGCCTGCACTGATGAGAGCCTGCTCTCCGGCTGCTGCACTTGTAAAGTGGGTGCTTCTCAGCTTCATGGTTTGAGGGGTGCAGCCAGCTT... | GGGCAGCAGAGGGTGGGTGTCTCAGGACAACCACGGAGTCTGACCAGCCCGGCAAGGAGCCACCGTGGGCTTCTCCCAGAATGTTCTAGCTCTTGTTGGATAACCAAGTGCATGCACAGGCAAATGAGGCTGGGCAGGAGAAAGACCCCGGCAGACGCCGCATGGTGCCCGGGACAGCCTCTGAGCGCGAATGACCTCCTTAAGTCCCCAAAACACGGCTGGTGTGGATGAGCCTGCACTGATGAGAGCCTGCTCTCCGGCTGCTGCACTTGTAAAGTGGGTGCTTCTCAGCTTCATGGTTTGAGGGGTGCAGCCAGCTT... | pathogenic | 319,424 |
Chromosome 21, position 43060498, gene CBS (cystathionine beta-synthase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED'] | CCAGGGTCAAGGGTGACCAGCCGTCAGGTTTCCGCGACGTGGGGCTCTCAGTGGTCACTGGGCATGTGTGCCAAGGCTTTCTGCTGTCAGACATGTCCTCGGGGCATCTCTCCCCTGACCTCCAGGTGGGCCCAGGACAGCCTGCACACAAAGGGTGGGTGGGCTGAGGTCTGAGGGCCTGGAGTGAGCACGGCAGCCCTGCCCCAGGCTGCTCAGGGACCGGCAAGGGGCCTCCAATGCCCTGAACGTCTGTATGAGGCGGCCCAGGCGGGCCTATCAGCCCAGCTGCAGGGTCTGCATGGCTGCCCTGTCCAGTGACA... | CCAGGGTCAAGGGTGACCAGCCGTCAGGTTTCCGCGACGTGGGGCTCTCAGTGGTCACTGGGCATGTGTGCCAAGGCTTTCTGCTGTCAGACATGTCCTCGGGGCATCTCTCCCCTGACCTCCAGGTGGGCCCAGGACAGCCTGCACACAAAGGGTGGGTGGGCTGAGGTCTGAGGGCCTGGAGTGAGCACGGCAGCCCTGCCCCAGGCTGCTCAGGGACCGGCAAGGGGCCTCCAATGCCCTGAACGTCTGTATGAGGCGGCCCAGGCGGGCCTATCAGCCCAGCTGCAGGGTCTGCATGGCTGCCCTGTCCAGTGACA... | pathogenic | 319,447 |
Does the variant on chromosome 21 at location 43062344 affecting gene CBS (cystathionine beta-synthase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED'] | GAGTGGAGGCGGTGCTCACAGGGCCCCGCTGGCCTCCTCCCCTCCCAGTTCTGGCTGCCGGTTCTCAGGTGAGGCGTGAGAGGCATCCAGGGAAGGGTGGCAGGATGGAGAGGAGCAGGGACCTGGGAGGGAAGCCGTGTCTTACATGTAGTTCCGCACTGAGTCGGGCAGAATGACCACGCAGCGCTGGCCCTCCTGCAGCTCCTGCGCGGCCTTCACGGCCACCGCCACCGTGCTGCCAGCACTGCCACCTGCAGAGAGGGCCACGAGTCAGACGCGCCAGGGTGAGCGTGCGTGGGTGCACACGTATGCATGAATTG... | GAGTGGAGGCGGTGCTCACAGGGCCCCGCTGGCCTCCTCCCCTCCCAGTTCTGGCTGCCGGTTCTCAGGTGAGGCGTGAGAGGCATCCAGGGAAGGGTGGCAGGATGGAGAGGAGCAGGGACCTGGGAGGGAAGCCGTGTCTTACATGTAGTTCCGCACTGAGTCGGGCAGAATGACCACGCAGCGCTGGCCCTCCTGCAGCTCCTGCGCGGCCTTCACGGCCACCGCCACCGTGCTGCCAGCACTGCCACCTGCAGAGAGGGCCACGAGTCAGACGCGCCAGGGTGAGCGTGCGTGGGTGCACACGTATGCATGAATTG... | pathogenic | 319,465 |
The chromosome 21, position 43063989 genetic variant in gene CBS (cystathionine beta-synthase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED'] | GCTGCTCCAGGGTGCTCGCAGCACCCAGTCCCGGCCATGGGCCCCGTCAATGCAGAGCCACCGCCCCAGGGGCCCTGGTGGACTTGATTAGAAACAATAAGTGCCATGAGAGCTTCAGCCTTGTTCTAGAAACACATTCTGGAAGGCAGCTCGAAGCCCCGCCCCATGGCCTCCTGCCCTCACCTGAGCAGGTGACCACACTGGGCAGGCAGACAACACCTGAGGCTCGTGGCCGCCGCAGTGACACTCCTCAGAACTGCTGTCTTACACATGCAGGTCGGTGGCTGACTGAGGGTGCGCCCCCAGCCATCCCCAGTGCC... | GCTGCTCCAGGGTGCTCGCAGCACCCAGTCCCGGCCATGGGCCCCGTCAATGCAGAGCCACCGCCCCAGGGGCCCTGGTGGACTTGATTAGAAACAATAAGTGCCATGAGAGCTTCAGCCTTGTTCTAGAAACACATTCTGGAAGGCAGCTCGAAGCCCCGCCCCATGGCCTCCTGCCCTCACCTGAGCAGGTGACCACACTGGGCAGGCAGACAACACCTGAGGCTCGTGGCCGCCGCAGTGACACTCCTCAGAACTGCTGTCTTACACATGCAGGTCGGTGGCTGACTGAGGGTGCGCCCCCAGCCATCCCCAGTGCC... | pathogenic | 319,513 |
Variant chromosome 21, position 43065205, gene CBS (cystathionine beta-synthase): benign or pathogenic? Disease(s)? | pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED'] | GGCCAATACCGCCGTTAACAACTGCCTGTTAATGATCTGCCTGTGGGTGGTGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAA... | GGCCAATACCGCCGTTAACAACTGCCTGTTAATGATCTGCCTGTGGGTGGTGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAA... | pathogenic | 319,516 |
Evaluate if the mutation on chromosome 21 at position 43065249 in CBS (cystathionine beta-synthase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED', 'Homocystinuria'] | GGGTGGTGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCA... | GGGTGGTGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCA... | pathogenic | 319,522 |
A genetic variant on chromosome 21, position 43065278, affects the gene CBS (cystathionine beta-synthase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Classic_homocystinuria', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED', 'Homocystinuria'] | CAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAAC... | CAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAAC... | pathogenic | 319,530 |
A mutation at chromosome position 43065453 on chromosome 21 in gene CBS (cystathionine beta-synthase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED'] | GCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTC... | GCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTC... | pathogenic | 319,538 |
Classify the chromosome 21 variant at position 43065665 affecting gene CBS (cystathionine beta-synthase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED'] | CTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCA... | CTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCA... | pathogenic | 319,552 |
Is the genetic mutation found on chromosome 21 at position 43066290, within the gene CBS (cystathionine beta-synthase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['CBS-related_disorder', 'Classic_homocystinuria'] | ATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAA... | ATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAA... | pathogenic | 319,574 |
Evaluate the clinical significance of the mutation at chromosome 21, position 43066291 in gene CBS (cystathionine beta-synthase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED'] | TGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAAC... | TGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAAC... | pathogenic | 319,575 |
Located at chromosome 21 position 43066319, the variant affecting gene CBS (cystathionine beta-synthase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED', 'Homocystinuria'] | GTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGG... | GTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGG... | pathogenic | 319,579 |
A genetic alteration at chromosome 21, position 43072028, in gene CBS (cystathionine beta-synthase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED'] | CCTGAGAAGTTTGCAGAGGTGATCAGGGCCAGGCCCAGAGCGCTTAGCAAGAAAAAGGATGTGACTTGCAGGGATAGCCCTGGAGCCCCTTATCTCAAGGACTCCCACTTCCACAGCCCAAGAGGCTCCTGGGAGGACACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTT... | CCTGAGAAGTTTGCAGAGGTGATCAGGGCCAGGCCCAGAGCGCTTAGCAAGAAAAAGGATGTGACTTGCAGGGATAGCCCTGGAGCCCCTTATCTCAAGGACTCCCACTTCCACAGCCCAAGAGGCTCCTGGGAGGACACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTT... | pathogenic | 319,616 |
Regarding the variant found on chromosome 21 at position 43072095 in gene CBS (cystathionine beta-synthase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED'] | GCAGGGATAGCCCTGGAGCCCCTTATCTCAAGGACTCCCACTTCCACAGCCCAAGAGGCTCCTGGGAGGACACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATC... | GCAGGGATAGCCCTGGAGCCCCTTATCTCAAGGACTCCCACTTCCACAGCCCAAGAGGCTCCTGGGAGGACACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATC... | pathogenic | 319,624 |
Considering the variant on chromosome 21, location 43072165, involving gene CBS (cystathionine beta-synthase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED'] | CACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTG... | CACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTG... | pathogenic | 319,631 |
Evaluate this variant at chromosome 21, position 43072174, gene CBS (cystathionine beta-synthase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['CBS-related_disorder', 'Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED', 'Homocystinuria'] | GTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGG... | GTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGG... | pathogenic | 319,632 |
Is the variant located on chromosome 21 at position 43072174, gene CBS (cystathionine beta-synthase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED'] | GTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGG... | GTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGG... | pathogenic | 319,633 |
Clinical significance of chromosome 21, position 43420344, gene SIK1 (salt inducible kinase 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CCTGGAAGCTGACAGGGAGCAGAACAGCTCCTCCCAAGCCCCCCTGAGCCTGCAGCACTGGGGTGGCGGACTGCGACCCCAGGAAGGGCGAGGCCAGCCTGACCGGGGAGCAGGCGCCCAGCAGCCCCTGAGTGGCCGGGGTGCCACTGAGCCCCGCGGGGCTTTTGCTCGCAGAGAAGGTCAGACAACTGTCAGAGCTGGTTCCCTCTGCAGGACTTGCCGTGGTGGAGGGGGAGACGACTATACCTGTGGGGGGAGGACAGCGCTTTTGATGCTGCAGTGCAAAGGAATAGGCTCCCCCGGCCACTGCTGGGCACACA... | CCTGGAAGCTGACAGGGAGCAGAACAGCTCCTCCCAAGCCCCCCTGAGCCTGCAGCACTGGGGTGGCGGACTGCGACCCCAGGAAGGGCGAGGCCAGCCTGACCGGGGAGCAGGCGCCCAGCAGCCCCTGAGTGGCCGGGGTGCCACTGAGCCCCGCGGGGCTTTTGCTCGCAGAGAAGGTCAGACAACTGTCAGAGCTGGTTCCCTCTGCAGGACTTGCCGTGGTGGAGGGGGAGACGACTATACCTGTGGGGGGAGGACAGCGCTTTTGATGCTGCAGTGCAAAGGAATAGGCTCCCCCGGCCACTGCTGGGCACACA... | benign | 319,760 |
A mutation at chromosome position 43421627 on chromosome 21 in gene SIK1 (salt inducible kinase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TGCCTCGCTGGTGGGCATGACAGCTGACGGAGGGACACTGGCTGGCCAGGCTGGGCTCAGGACCAGGTGCTGGTGCTGCGCTGCCAGAAGGTGGCGTGACAGGCCGGCCCCAGGGATGAGTCAGGGACAAGTGGCCTCTGGGCAGAGTCCAGCCCCCAGCAGCTGGCACCCCCTTCCCCACGAGGCCTGGGACCCACTGCCCACGCAAGGAACCGCCCTCCAAGCCGGTGCCTGACAGGGGAGGGAGCCTGGGGCCTGGGAGGAGACTCCTCCCCCTCACCTCCAAACCACTGAGGTCCGAGCTCCGAGGCCGCGGCTGC... | TGCCTCGCTGGTGGGCATGACAGCTGACGGAGGGACACTGGCTGGCCAGGCTGGGCTCAGGACCAGGTGCTGGTGCTGCGCTGCCAGAAGGTGGCGTGACAGGCCGGCCCCAGGGATGAGTCAGGGACAAGTGGCCTCTGGGCAGAGTCCAGCCCCCAGCAGCTGGCACCCCCTTCCCCACGAGGCCTGGGACCCACTGCCCACGCAAGGAACCGCCCTCCAAGCCGGTGCCTGACAGGGGAGGGAGCCTGGGGCCTGGGAGGAGACTCCTCCCCCTCACCTCCAAACCACTGAGGTCCGAGCTCCGAGGCCGCGGCTGC... | benign | 319,774 |
Chromosome 21, position 43422039, gene SIK1 (salt inducible kinase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GCTGTTTTGCAGTGACTGGGAACAAGAGGAGCAGAGATCAGCATGGGGATGGCGGGGAGCCCCAGGGCCCACCCGATCCCAGGTTATTCTTGGGTGACTGAGAATATCCTTTAGTGGGGTGGACAAGCCGGCCCCTAAATTAGCCTGTGCTCCCGTTTTAACTCAGCTGGTGAGTGCCTGCTTCCCCTGAGACAGCTGCCTAGCCCCTGCGGGTGAGGCCAGGGCAAGTGTGGCCAGGCTCACCTCCACCGTCCTCTGCCGGTCCACGCCCAGGGTCTGCATGATACCCAGCGCCTGCTCATCGTAGTCGCCCAGGTTGG... | GCTGTTTTGCAGTGACTGGGAACAAGAGGAGCAGAGATCAGCATGGGGATGGCGGGGAGCCCCAGGGCCCACCCGATCCCAGGTTATTCTTGGGTGACTGAGAATATCCTTTAGTGGGGTGGACAAGCCGGCCCCTAAATTAGCCTGTGCTCCCGTTTTAACTCAGCTGGTGAGTGCCTGCTTCCCCTGAGACAGCTGCCTAGCCCCTGCGGGTGAGGCCAGGGCAAGTGTGGCCAGGCTCACCTCCACCGTCCTCTGCCGGTCCACGCCCAGGGTCTGCATGATACCCAGCGCCTGCTCATCGTAGTCGCCCAGGTTGG... | benign | 319,782 |
Variant at chromosome 21, position 43774279, gene CSTB (cystatin B): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Inborn_genetic_diseases', 'Progressive_myoclonic_epilepsy', 'Unverricht-Lundborg_syndrome'] | ATCTCGGCTCACTGCAACCTCCTCTGCCTCCTGGGTTCAAGCTATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCTGGCTAGTTTTTTGTATTTTATTTTATTTTTTTCAGTAGGGATGGGGTTTCACCATGTTGGTCAGGCTGGTCCCGGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCTGTAATTTTGATCCCTTTGTCAACTTGTATTTAAACCAGACCACAGCATTAATTACATATTTTATTTTCTGTTTTACACTGATATTT... | ATCTCGGCTCACTGCAACCTCCTCTGCCTCCTGGGTTCAAGCTATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCTGGCTAGTTTTTTGTATTTTATTTTATTTTTTTCAGTAGGGATGGGGTTTCACCATGTTGGTCAGGCTGGTCCCGGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCTGTAATTTTGATCCCTTTGTCAACTTGTATTTAAACCAGACCACAGCATTAATTACATATTTTATTTTCTGTTTTACACTGATATTT... | pathogenic | 319,816 |
Does the variant on chromosome 21 at location 43774680 affecting gene CSTB (cystatin B) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Progressive_myoclonic_epilepsy'] | TGCAGACAACCGCTCCCTTCCTGTTGGGGATGGCTCTCCCGCTGCGTGGTCCCCTAAACAGCCCCTCCCCCACCTGCCTTCCGCTGGAAATTCTCAAGTGGGAAATACAACGGGTTTTCCTTTCAATGCAAAACTGCTTGATTCTGTTTTGCATGTTATAAAAGCTTAGTCTCAGAGTTCATGTTAAGAGTGTAGAATACACACAGTCCATGATTCAGTTTTCTTTTTGGTTTTTTTTTGAGATAGGATCTCACTCTGTCACCCACCCAGGCTGGAGTGCAGAGGTACGATCTCGGCTCACTGCACCCACCACCTCCCGA... | TGCAGACAACCGCTCCCTTCCTGTTGGGGATGGCTCTCCCGCTGCGTGGTCCCCTAAACAGCCCCTCCCCCACCTGCCTTCCGCTGGAAATTCTCAAGTGGGAAATACAACGGGTTTTCCTTTCAATGCAAAACTGCTTGATTCTGTTTTGCATGTTATAAAAGCTTAGTCTCAGAGTTCATGTTAAGAGTGTAGAATACACACAGTCCATGATTCAGTTTTCTTTTTGGTTTTTTTTTGAGATAGGATCTCACTCTGTCACCCACCCAGGCTGGAGTGCAGAGGTACGATCTCGGCTCACTGCACCCACCACCTCCCGA... | pathogenic | 319,822 |
The mutation in gene ICOSLG (inducible T cell costimulator ligand) at chromosome 21, position 44230041—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTCCGAGGAGCCTGGCGCTGGGGTCGGAGGTCTTCATCAGGACCCTGGGGACCCTCAGGGTTGAGTGGGGTGGGGCTGCTGAGGGTGGTGGGGGCCGGGGGAGCCACCTCTCACTTTGGGGATCATTGCTGAGGTGAGAAGGGGGACTGTGGCCACCAGGTGATACCCTCTCCATGCACCTAACTGCTGCTCAGGACTCTGGGGACCGTGTTGCCAGGCCTGCGCCTGCTGGACATGGGCGTCTCCAGCCCTGCTGGGCTGTGTCTTTCTCGCTGCAGAGCCAAGAGCCCCGGCAGCCCCTGTAGCCAAACACGGCCCTG... | CTCCGAGGAGCCTGGCGCTGGGGTCGGAGGTCTTCATCAGGACCCTGGGGACCCTCAGGGTTGAGTGGGGTGGGGCTGCTGAGGGTGGTGGGGGCCGGGGGAGCCACCTCTCACTTTGGGGATCATTGCTGAGGTGAGAAGGGGGACTGTGGCCACCAGGTGATACCCTCTCCATGCACCTAACTGCTGCTCAGGACTCTGGGGACCGTGTTGCCAGGCCTGCGCCTGCTGGACATGGGCGTCTCCAGCCCTGCTGGGCTGTGTCTTTCTCGCTGCAGAGCCAAGAGCCCCGGCAGCCCCTGTAGCCAAACACGGCCCTG... | benign | 319,842 |
Clinical impact (benign or pathogenic) of the variant at chromosome 21, location 44286026, gene AIRE (autoimmune regulator): what disease(s) if pathogenic? | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | GGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCA... | GGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCA... | pathogenic | 319,855 |
Chromosome 21, position 44286119, gene AIRE (autoimmune regulator): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | GAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGA... | GAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGA... | pathogenic | 319,863 |
Chromosome 21, position 44286139, gene AIRE (autoimmune regulator): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | GGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGG... | GGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGG... | pathogenic | 319,864 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 21, position 44286628, gene AIRE (autoimmune regulator). What disease(s) is it linked to if pathogenic? | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | CATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGC... | CATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGC... | pathogenic | 319,868 |
Is the variant located on chromosome 21 at position 44286683, gene AIRE (autoimmune regulator), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | TTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGG... | TTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGG... | pathogenic | 319,872 |
Does the genetic variant at chromosome 21, position 44286994, impacting gene AIRE (autoimmune regulator), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | TGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGG... | TGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGG... | pathogenic | 319,879 |
Mutation at chromosome 21, position 44287017, within AIRE (autoimmune regulator): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | GGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCC... | GGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCC... | pathogenic | 319,880 |
Evaluate if the mutation on chromosome 21 at position 44287554 in AIRE (autoimmune regulator) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | CCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGC... | CCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGC... | pathogenic | 319,891 |
Classify the chromosome 21 variant at position 44287554 affecting gene AIRE (autoimmune regulator) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | CCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGC... | CCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGC... | pathogenic | 319,892 |
Evaluate if the mutation on chromosome 21 at position 44289792 in AIRE (autoimmune regulator) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autoimmune_polyglandular_syndrome_type_1,_with_reversible_metaphyseal_dysplasia', 'Polyglandular_autoimmune_syndrome,_type_1'] | GACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGG... | GACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGG... | pathogenic | 319,909 |
Mutation at chromosome 21, position 44290010, within AIRE (autoimmune regulator): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | AGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCA... | AGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCA... | pathogenic | 319,915 |
Is the genetic variant on chromosome 21, position 44290052, gene AIRE (autoimmune regulator), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | AGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCC... | AGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCC... | pathogenic | 319,917 |
Is the chromosome 21, position 44291145 variant in AIRE (autoimmune regulator) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | CTTCCTAAGGCTGTTGGTTAAATTGGCACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAA... | CTTCCTAAGGCTGTTGGTTAAATTGGCACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAA... | pathogenic | 319,925 |
Evaluate if the mutation on chromosome 21 at position 44291171 in AIRE (autoimmune regulator) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | CACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGG... | CACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGG... | pathogenic | 319,927 |
Determine whether the variant at chromosome 21, position 44291179, in gene AIRE (autoimmune regulator) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['AIRE-related_disorder', 'Autoimmune_polyglandular_syndrome_type_1,_with_reversible_metaphyseal_dysplasia', 'Polyglandular_autoimmune_syndrome,_type_1'] | GGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTG... | GGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTG... | pathogenic | 319,928 |
Does the chromosome 21 mutation at position 44291213 within gene AIRE (autoimmune regulator) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | GGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTA... | GGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTA... | pathogenic | 319,931 |
Does the variant on chromosome 21 at location 44292368 affecting gene AIRE (autoimmune regulator) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | ACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCT... | ACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCT... | pathogenic | 319,935 |
Variant at chromosome 21, position 44292389, gene AIRE (autoimmune regulator): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | CCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTG... | CCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTG... | pathogenic | 319,937 |
For chromosome 21, position 44292474, gene AIRE (autoimmune regulator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCA... | GTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCA... | benign | 319,940 |
Determine whether the variant at chromosome 21, position 44292994, in gene AIRE (autoimmune regulator) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | CAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCC... | CAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCC... | pathogenic | 319,944 |
Is the genetic mutation found on chromosome 21 at position 44293060, within the gene AIRE (autoimmune regulator), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | GGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGT... | GGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGT... | pathogenic | 319,948 |
Determine if the mutation at chromosome 21, position 44293088 in gene AIRE (autoimmune regulator) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | CAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCC... | CAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCC... | pathogenic | 319,949 |
Mutation at chromosome 21, position 44293141, within AIRE (autoimmune regulator): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Polyglandular_autoimmune_syndrome,_type_1'] | AGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCC... | AGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCC... | pathogenic | 319,954 |
Variant at chromosome 21, position 44293160, gene AIRE (autoimmune regulator): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | TGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCC... | TGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCC... | pathogenic | 319,955 |
Considering the variant on chromosome 21, location 44293174, involving gene AIRE (autoimmune regulator), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | ACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAA... | ACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAA... | pathogenic | 319,957 |
The mutation in gene AIRE (autoimmune regulator) at chromosome 21, position 44293805—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | AGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAG... | AGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAG... | pathogenic | 319,961 |
A genetic variant at chromosome 21, position 44294473, affecting gene AIRE (autoimmune regulator)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1'] | CGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGA... | CGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGA... | pathogenic | 319,972 |
Gene CFAP410 (cilia and flagella associated protein 410) variant at chromosome position 44331894 on chromosome 21: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinal_dystrophy'] | GGAAGACTGTCACAACCATGCCTTGGGAAACGTCACCTCCAGATCAACCTTGGGAAAATCTTTTATTAGGGAGGACAGCCTGCAAAATCCTCCCTTTAAGAGCCCAGGCCAGCCTAGAACCTCCAGACCACAGAAGGGGAGTCCTGGGGACAGGACTGGTGTAGACAGGCATCTCCACCGCCCCGGTTAGCCAGTACCTAACACCCACTCCTGCCCTCGGCCGATGTGGCAAACCGGGGAGGCTTTTGTGTGGGGCCGGGGCTGCGGCCATGGCAGCCACCCTCCAGCTCCCGGGGGCTGGGGAAGACGCTGGGGTCCCC... | GGAAGACTGTCACAACCATGCCTTGGGAAACGTCACCTCCAGATCAACCTTGGGAAAATCTTTTATTAGGGAGGACAGCCTGCAAAATCCTCCCTTTAAGAGCCCAGGCCAGCCTAGAACCTCCAGACCACAGAAGGGGAGTCCTGGGGACAGGACTGGTGTAGACAGGCATCTCCACCGCCCCGGTTAGCCAGTACCTAACACCCACTCCTGCCCTCGGCCGATGTGGCAAACCGGGGAGGCTTTTGTGTGGGGCCGGGGCTGCGGCCATGGCAGCCACCCTCCAGCTCCCGGGGGCTGGGGAAGACGCTGGGGTCCCC... | pathogenic | 320,011 |
Chromosome 21, position 44331943, gene CFAP410 (cilia and flagella associated protein 410): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic | TTGGGAAAATCTTTTATTAGGGAGGACAGCCTGCAAAATCCTCCCTTTAAGAGCCCAGGCCAGCCTAGAACCTCCAGACCACAGAAGGGGAGTCCTGGGGACAGGACTGGTGTAGACAGGCATCTCCACCGCCCCGGTTAGCCAGTACCTAACACCCACTCCTGCCCTCGGCCGATGTGGCAAACCGGGGAGGCTTTTGTGTGGGGCCGGGGCTGCGGCCATGGCAGCCACCCTCCAGCTCCCGGGGGCTGGGGAAGACGCTGGGGTCCCCGTGGAGGCTGGAGCGGCGTTCAGGTCCTGCGGTCACTCGGCGTGCTCCT... | TTGGGAAAATCTTTTATTAGGGAGGACAGCCTGCAAAATCCTCCCTTTAAGAGCCCAGGCCAGCCTAGAACCTCCAGACCACAGAAGGGGAGTCCTGGGGACAGGACTGGTGTAGACAGGCATCTCCACCGCCCCGGTTAGCCAGTACCTAACACCCACTCCTGCCCTCGGCCGATGTGGCAAACCGGGGAGGCTTTTGTGTGGGGCCGGGGCTGCGGCCATGGCAGCCACCCTCCAGCTCCCGGGGGCTGGGGAAGACGCTGGGGTCCCCGTGGAGGCTGGAGCGGCGTTCAGGTCCTGCGGTCACTCGGCGTGCTCCT... | pathogenic | 320,016 |
Variant at chromosome 21, position 44331943, gene CFAP410 (cilia and flagella associated protein 410): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Retinal_dystrophy', 'Retinal_dystrophy_with_or_without_macular_staphyloma'] | TTGGGAAAATCTTTTATTAGGGAGGACAGCCTGCAAAATCCTCCCTTTAAGAGCCCAGGCCAGCCTAGAACCTCCAGACCACAGAAGGGGAGTCCTGGGGACAGGACTGGTGTAGACAGGCATCTCCACCGCCCCGGTTAGCCAGTACCTAACACCCACTCCTGCCCTCGGCCGATGTGGCAAACCGGGGAGGCTTTTGTGTGGGGCCGGGGCTGCGGCCATGGCAGCCACCCTCCAGCTCCCGGGGGCTGGGGAAGACGCTGGGGTCCCCGTGGAGGCTGGAGCGGCGTTCAGGTCCTGCGGTCACTCGGCGTGCTCCT... | TTGGGAAAATCTTTTATTAGGGAGGACAGCCTGCAAAATCCTCCCTTTAAGAGCCCAGGCCAGCCTAGAACCTCCAGACCACAGAAGGGGAGTCCTGGGGACAGGACTGGTGTAGACAGGCATCTCCACCGCCCCGGTTAGCCAGTACCTAACACCCACTCCTGCCCTCGGCCGATGTGGCAAACCGGGGAGGCTTTTGTGTGGGGCCGGGGCTGCGGCCATGGCAGCCACCCTCCAGCTCCCGGGGGCTGGGGAAGACGCTGGGGTCCCCGTGGAGGCTGGAGCGGCGTTCAGGTCCTGCGGTCACTCGGCGTGCTCCT... | pathogenic | 320,017 |
Mutation found at chromosome 21 position 44339161, gene CFAP410: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['CFAP410-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa'] | GGTATGCGATCCCTGTGTAAGTTGGGGACATTTTGGACTGAGAAAGACAATGAGGGAGAGAAGAAAAAAATCTTTCACAGACGCACACACTCAAGTTCTCCCAGCAGGGCTTATTCTCTGCCTGCCTTTGGGGCAGCGGCAAGGGGGTACAAGGCTAGATGTGACCAAGAAGAGGGGGTGTAGACCTTCAACTTCCCCGTAACAAAGTAAAACAAGCCCTCCTGGGATTCCTTTCCAGGTGAGAGCAAGTTCCAAACTATTGCTCCCCTCCTCTGCGACCAAGTGACAAAGGGTGTTTCATTTATAGGGATGTTGACGGG... | GGTATGCGATCCCTGTGTAAGTTGGGGACATTTTGGACTGAGAAAGACAATGAGGGAGAGAAGAAAAAAATCTTTCACAGACGCACACACTCAAGTTCTCCCAGCAGGGCTTATTCTCTGCCTGCCTTTGGGGCAGCGGCAAGGGGGTACAAGGCTAGATGTGACCAAGAAGAGGGGGTGTAGACCTTCAACTTCCCCGTAACAAAGTAAAACAAGCCCTCCTGGGATTCCTTTCCAGGTGAGAGCAAGTTCCAAACTATTGCTCCCCTCCTCTGCGACCAAGTGACAAAGGGTGTTTCATTTATAGGGATGTTGACGGG... | pathogenic | 320,038 |
Considering the genetic mutation at chromosome 21, position 44509225, impacting TSPEAR: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ectodermal_dysplasia_14,_hair/tooth_type_with_or_without_hypohidrosis', 'TSPEAR-related_disorder_of_tooth_and_hair_follicle_morphogenesis'] | CGGGGGTGCCCAGTTGGGAGGGAGGGGCTGGAAAAGGGTGTGGGGGGCTCCTTGTGAGGGGATGAGAATGTTCCAGAGTTGTCTGCAGCCATGGCTGCACATATCTGTGGATTTAATAGAACTACTGAATCTAAAAAGCAAACACAAGCGACCATTTGAAGGCAGTCAGAGCCAAGGTTACACACAGAAGCCACAAAACCCCTCAGCGCCCTTGAATAGGGTTTTGGACTTGGTGAGGCCACATCACGTCTCCGGGAAGTGTAGGGAATTCCCCATGCTGGGTAGAAGGGCTAGGAGTTTGACTTGTGTGTGCTGTTTTG... | CGGGGGTGCCCAGTTGGGAGGGAGGGGCTGGAAAAGGGTGTGGGGGGCTCCTTGTGAGGGGATGAGAATGTTCCAGAGTTGTCTGCAGCCATGGCTGCACATATCTGTGGATTTAATAGAACTACTGAATCTAAAAAGCAAACACAAGCGACCATTTGAAGGCAGTCAGAGCCAAGGTTACACACAGAAGCCACAAAACCCCTCAGCGCCCTTGAATAGGGTTTTGGACTTGGTGAGGCCACATCACGTCTCCGGGAAGTGTAGGGAATTCCCCATGCTGGGTAGAAGGGCTAGGAGTTTGACTTGTGTGTGCTGTTTTG... | pathogenic | 320,092 |
Variant chromosome 21, position 44509275, gene TSPEAR: benign or pathogenic? Disease(s)? | pathogenic; ['Ectodermal_dysplasia_14,_hair/tooth_type_with_or_without_hypohidrosis', 'Inborn_genetic_diseases', 'TSPEAR-related_disorder'] | CTTGTGAGGGGATGAGAATGTTCCAGAGTTGTCTGCAGCCATGGCTGCACATATCTGTGGATTTAATAGAACTACTGAATCTAAAAAGCAAACACAAGCGACCATTTGAAGGCAGTCAGAGCCAAGGTTACACACAGAAGCCACAAAACCCCTCAGCGCCCTTGAATAGGGTTTTGGACTTGGTGAGGCCACATCACGTCTCCGGGAAGTGTAGGGAATTCCCCATGCTGGGTAGAAGGGCTAGGAGTTTGACTTGTGTGTGCTGTTTTGATGGTAATTATTAAACATTACCTTAATTAATTGGTAAGTACTTTCTGTGT... | CTTGTGAGGGGATGAGAATGTTCCAGAGTTGTCTGCAGCCATGGCTGCACATATCTGTGGATTTAATAGAACTACTGAATCTAAAAAGCAAACACAAGCGACCATTTGAAGGCAGTCAGAGCCAAGGTTACACACAGAAGCCACAAAACCCCTCAGCGCCCTTGAATAGGGTTTTGGACTTGGTGAGGCCACATCACGTCTCCGGGAAGTGTAGGGAATTCCCCATGCTGGGTAGAAGGGCTAGGAGTTTGACTTGTGTGTGCTGTTTTGATGGTAATTATTAAACATTACCTTAATTAATTGGTAAGTACTTTCTGTGT... | pathogenic | 320,094 |
Evaluate if the mutation on chromosome 21 at position 44521955 in TSPEAR (thrombospondin type laminin G domain and EAR repeats) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | CAGTGTGAGCCGCTACCACCACCTACCTCCTGAGGCTGTTACCAAGGCCAATGGCTGGAAGGAATCTTGCTCACCCCCAATCCCAGTGCACTGAGCCTCACTCTGCCCCCGTGGCAGGAGGCTCATCCCGCCTCTTCCTGGCTCCCAGGCACGCTCACCTGTTCCATCCACAGCACTAGCGAGCTCAAGGTGTGTTCCTTCTGGCACTGCTGCCTCCTCACCTGGGCGCCTGCGGCTCATCTGGGCGGCCACAGCAGCCTCCCAATGGCTCACTCCCTCCCAGCCACCGACCAGTCATTATCGTGCAGCCCTGTCAACCC... | CAGTGTGAGCCGCTACCACCACCTACCTCCTGAGGCTGTTACCAAGGCCAATGGCTGGAAGGAATCTTGCTCACCCCCAATCCCAGTGCACTGAGCCTCACTCTGCCCCCGTGGCAGGAGGCTCATCCCGCCTCTTCCTGGCTCCCAGGCACGCTCACCTGTTCCATCCACAGCACTAGCGAGCTCAAGGTGTGTTCCTTCTGGCACTGCTGCCTCCTCACCTGGGCGCCTGCGGCTCATCTGGGCGGCCACAGCAGCCTCCCAATGGCTCACTCCCTCCCAGCCACCGACCAGTCATTATCGTGCAGCCCTGTCAACCC... | pathogenic | 320,101 |
Gene TSPEAR (thrombospondin type laminin G domain and EAR repeats) variant at chromosome position 44521955 on chromosome 21: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | CAGTGTGAGCCGCTACCACCACCTACCTCCTGAGGCTGTTACCAAGGCCAATGGCTGGAAGGAATCTTGCTCACCCCCAATCCCAGTGCACTGAGCCTCACTCTGCCCCCGTGGCAGGAGGCTCATCCCGCCTCTTCCTGGCTCCCAGGCACGCTCACCTGTTCCATCCACAGCACTAGCGAGCTCAAGGTGTGTTCCTTCTGGCACTGCTGCCTCCTCACCTGGGCGCCTGCGGCTCATCTGGGCGGCCACAGCAGCCTCCCAATGGCTCACTCCCTCCCAGCCACCGACCAGTCATTATCGTGCAGCCCTGTCAACCC... | CAGTGTGAGCCGCTACCACCACCTACCTCCTGAGGCTGTTACCAAGGCCAATGGCTGGAAGGAATCTTGCTCACCCCCAATCCCAGTGCACTGAGCCTCACTCTGCCCCCGTGGCAGGAGGCTCATCCCGCCTCTTCCTGGCTCCCAGGCACGCTCACCTGTTCCATCCACAGCACTAGCGAGCTCAAGGTGTGTTCCTTCTGGCACTGCTGCCTCCTCACCTGGGCGCCTGCGGCTCATCTGGGCGGCCACAGCAGCCTCCCAATGGCTCACTCCCTCCCAGCCACCGACCAGTCATTATCGTGCAGCCCTGTCAACCC... | pathogenic | 320,102 |
Mutation found at chromosome 21 position 44525810, gene TSPEAR (thrombospondin type laminin G domain and EAR repeats): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Ectodermal_dysplasia_14,_hair/tooth_type_with_or_without_hypohidrosis'] | AGTGAGGTAGTTAATCAGTTAGTCAGTGAGGTAGTCAGTCAGTCAGTCAGTCAGTCAGTTAGTCAGGTAATTAGGTAGTCAGCCAGTCAGTTCAGTGGCTAGTCAGGTAGTTGGTCAGTCATGAGTCAGGTTATTAATCAGTCAGGTAGTTTGTCAGTCAGTCAGTCAATTAGCCAGTGAGGTAGTCAGTCAGTCAGTTCAGTAGTTAGTCAGGTAGCCAGTCATCAGTCAGGTAGTCAGTCAGGTAGTTAGTCATCAGTCAGGTAGTTAGTCAGTTGTCAGGTAGTCACTCAGTCATCAGTCAGTCAGGTAGTTAGGCA... | AGTGAGGTAGTTAATCAGTTAGTCAGTGAGGTAGTCAGTCAGTCAGTCAGTCAGTCAGTTAGTCAGGTAATTAGGTAGTCAGCCAGTCAGTTCAGTGGCTAGTCAGGTAGTTGGTCAGTCATGAGTCAGGTTATTAATCAGTCAGGTAGTTTGTCAGTCAGTCAGTCAATTAGCCAGTGAGGTAGTCAGTCAGTCAGTTCAGTAGTTAGTCAGGTAGCCAGTCATCAGTCAGGTAGTCAGTCAGGTAGTTAGTCATCAGTCAGGTAGTTAGTCAGTTGTCAGGTAGTCACTCAGTCATCAGTCAGTCAGGTAGTTAGGCA... | pathogenic | 320,116 |
Does the chromosome 21 mutation at position 44711463 within gene TSPEAR (thrombospondin type laminin G domain and EAR repeats) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Ectodermal_dysplasia_14,_hair/tooth_type_with_or_without_hypohidrosis'] | CCCAGCCCACAACTTCCCCAAAGCCTGGCAGTCACTTGAATAGCCAAATGAGTCCTAGAAAGCGAGAGACGAGAGGGGAATGAGCGCCGAAAATCAAAGCAGGTTCCCCTCCTGACAACTCCAGAGAAGGCGCATGGGCCCCGTGGCAGACCCGAACCCCCAGCCTCGCGACCGCCTGTGACCTGCGGGTCAACCACCCGCCGCGGCTCCACGCCGTGGGCACAGACTCAGGGAGCAGGATGAGAAAGCTGAGACGGCGCAGCCACGGCCCGGTGCCTTCACGCGCACAGCGACACAGCCCCAGCCAGCGGGGCCCACGC... | CCCAGCCCACAACTTCCCCAAAGCCTGGCAGTCACTTGAATAGCCAAATGAGTCCTAGAAAGCGAGAGACGAGAGGGGAATGAGCGCCGAAAATCAAAGCAGGTTCCCCTCCTGACAACTCCAGAGAAGGCGCATGGGCCCCGTGGCAGACCCGAACCCCCAGCCTCGCGACCGCCTGTGACCTGCGGGTCAACCACCCGCCGCGGCTCCACGCCGTGGGCACAGACTCAGGGAGCAGGATGAGAAAGCTGAGACGGCGCAGCCACGGCCCGGTGCCTTCACGCGCACAGCGACACAGCCCCAGCCAGCGGGGCCCACGC... | pathogenic | 320,176 |
Chromosome 21, position 44711476, gene TSPEAR (thrombospondin type laminin G domain and EAR repeats): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['TSPEAR-related_disorder'] | TTCCCCAAAGCCTGGCAGTCACTTGAATAGCCAAATGAGTCCTAGAAAGCGAGAGACGAGAGGGGAATGAGCGCCGAAAATCAAAGCAGGTTCCCCTCCTGACAACTCCAGAGAAGGCGCATGGGCCCCGTGGCAGACCCGAACCCCCAGCCTCGCGACCGCCTGTGACCTGCGGGTCAACCACCCGCCGCGGCTCCACGCCGTGGGCACAGACTCAGGGAGCAGGATGAGAAAGCTGAGACGGCGCAGCCACGGCCCGGTGCCTTCACGCGCACAGCGACACAGCCCCAGCCAGCGGGGCCCACGCTAAGGCGGAATCC... | TTCCCCAAAGCCTGGCAGTCACTTGAATAGCCAAATGAGTCCTAGAAAGCGAGAGACGAGAGGGGAATGAGCGCCGAAAATCAAAGCAGGTTCCCCTCCTGACAACTCCAGAGAAGGCGCATGGGCCCCGTGGCAGACCCGAACCCCCAGCCTCGCGACCGCCTGTGACCTGCGGGTCAACCACCCGCCGCGGCTCCACGCCGTGGGCACAGACTCAGGGAGCAGGATGAGAAAGCTGAGACGGCGCAGCCACGGCCCGGTGCCTTCACGCGCACAGCGACACAGCCCCAGCCAGCGGGGCCCACGCTAAGGCGGAATCC... | pathogenic | 320,179 |
Variant on chromosome 21, at position 44888702, affecting ITGB2 (integrin subunit beta 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Leukocyte_adhesion_deficiency_1'] | CCACGGCCTCCCGCAGCAGGAGGTCGCATAGTGTGGGACGCACGTGCCCCTCTGCGTGGGACCCCCAAGGACGGCCACTTACATTGTTCCACTGGGACTTGAGCTTCTCCTTCTCAAAGCGCCTGTACTCCCGGAGGTCGCTCAGGTGGATCAGAGCCTTCCAGATGACCAGCAGGAGAATGCCGATCAGCACGATGCCTGCCACGGTGCCCCCGACGATGGCGGCGATGTTGGGGCCTGCCACACACTCTAGGGAAGAAGCAGCACACCTGAGCGTCAGTCCAGCCCCATCTCACTGAGCCGTGTGCCCACAGGTCCGA... | CCACGGCCTCCCGCAGCAGGAGGTCGCATAGTGTGGGACGCACGTGCCCCTCTGCGTGGGACCCCCAAGGACGGCCACTTACATTGTTCCACTGGGACTTGAGCTTCTCCTTCTCAAAGCGCCTGTACTCCCGGAGGTCGCTCAGGTGGATCAGAGCCTTCCAGATGACCAGCAGGAGAATGCCGATCAGCACGATGCCTGCCACGGTGCCCCCGACGATGGCGGCGATGTTGGGGCCTGCCACACACTCTAGGGAAGAAGCAGCACACCTGAGCGTCAGTCCAGCCCCATCTCACTGAGCCGTGTGCCCACAGGTCCGA... | pathogenic | 320,192 |
The mutation in gene ITGB2 (integrin subunit beta 2) at chromosome 21, position 44888935—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GGGCCTGCCACACACTCTAGGGAAGAAGCAGCACACCTGAGCGTCAGTCCAGCCCCATCTCACTGAGCCGTGTGCCCACAGGTCCGAGGTCACCCCACAACACAGCACTTAGAGAGACGGAGGTTCCCAGGGCCCCGGCTCACCATCCATCACCATGGCCAGGGGTCAGTGAGAACCTGGCCCAGCCCCTGCTGGATTCCAGGCCAGGCCCTGTGGTTCCAAATGAAACCTAAGGGCCATTGCCACCACCCCTGCTGACAGAGAAGAAGGCAGGGCCAGGGTACCGGGCAGCCAGGACAGAGTGCTAATACTGGGGGGTA... | GGGCCTGCCACACACTCTAGGGAAGAAGCAGCACACCTGAGCGTCAGTCCAGCCCCATCTCACTGAGCCGTGTGCCCACAGGTCCGAGGTCACCCCACAACACAGCACTTAGAGAGACGGAGGTTCCCAGGGCCCCGGCTCACCATCCATCACCATGGCCAGGGGTCAGTGAGAACCTGGCCCAGCCCCTGCTGGATTCCAGGCCAGGCCCTGTGGTTCCAAATGAAACCTAAGGGCCATTGCCACCACCCCTGCTGACAGAGAAGAAGGCAGGGCCAGGGTACCGGGCAGCCAGGACAGAGTGCTAATACTGGGGGGTA... | benign | 320,197 |
The mutation in gene ITGB2 (integrin subunit beta 2) at chromosome 21, position 44906947—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Leukocyte_adhesion_deficiency_1'] | TCCTGGCCCTGGCCCTCGCCCTGCTGTGCCTTGCAGCCCTCAGAGGCTTCACTTGGCCTCTGGGCCAAGGACCCCAATCACTTTCTATGAAGGGCCAGACAGTAAATGTGTTTGGCTTTGGGGGCCGTGCGGCGTCTGCAGCGACATGGAGGAGGCAGCCAAGACCATGTCCCCACGAGCAATGTGGCCATGCTGCAGTCAAAGGGCACAGACATAGGCCTTTGGTGGCTGACCAAGGGGCCCCGTCCCTTCCCTTCCAGAGTAGAGGCTCAGCGAAGGGCCAGCAGGCTGCGGGGGTAGGGCCAGGACCCCGCGAGAGG... | TCCTGGCCCTGGCCCTCGCCCTGCTGTGCCTTGCAGCCCTCAGAGGCTTCACTTGGCCTCTGGGCCAAGGACCCCAATCACTTTCTATGAAGGGCCAGACAGTAAATGTGTTTGGCTTTGGGGGCCGTGCGGCGTCTGCAGCGACATGGAGGAGGCAGCCAAGACCATGTCCCCACGAGCAATGTGGCCATGCTGCAGTCAAAGGGCACAGACATAGGCCTTTGGTGGCTGACCAAGGGGCCCCGTCCCTTCCCTTCCAGAGTAGAGGCTCAGCGAAGGGCCAGCAGGCTGCGGGGGTAGGGCCAGGACCCCGCGAGAGG... | pathogenic | 320,239 |
For chromosome 21, position 44910310, gene ITGB2 (integrin subunit beta 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Leukocyte_adhesion_deficiency_1', 'Leukocyte_adhesion_deficiency_3'] | TCTTCTCCACCCCCTCCCCTTCTCTAGTTTATAAGACAGGAGAAAAGAGAGAAAGCAAAAAGTTGGAAAGAAACAGAAGTAAGATAAATAGCCAGATGACCTTGGCGCCACCACCCGGCCCTGGTGGTTAAACTAATAATATTATTATTATTATTATTATTAACCCCTGACCAAAACTACTGGTGTTATCTGTAAATTCCAGACATTGTATGAAAAAGCATTGCAAAACTTTCTGTTCTGTCAGCTGATGCATGTAACCCCCAGTCAAGTTCCCCACACTTGCTCTATCTATCACAACCCTTTCATGTGGACCCCTTAGA... | TCTTCTCCACCCCCTCCCCTTCTCTAGTTTATAAGACAGGAGAAAAGAGAGAAAGCAAAAAGTTGGAAAGAAACAGAAGTAAGATAAATAGCCAGATGACCTTGGCGCCACCACCCGGCCCTGGTGGTTAAACTAATAATATTATTATTATTATTATTATTAACCCCTGACCAAAACTACTGGTGTTATCTGTAAATTCCAGACATTGTATGAAAAAGCATTGCAAAACTTTCTGTTCTGTCAGCTGATGCATGTAACCCCCAGTCAAGTTCCCCACACTTGCTCTATCTATCACAACCCTTTCATGTGGACCCCTTAGA... | pathogenic | 320,248 |
Variant at chromosome position 44910314, chromosome 21, gene ITGB2 (integrin subunit beta 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['ITGB2-related_disorder', 'Leukocyte_adhesion_deficiency_1'] | CTCCACCCCCTCCCCTTCTCTAGTTTATAAGACAGGAGAAAAGAGAGAAAGCAAAAAGTTGGAAAGAAACAGAAGTAAGATAAATAGCCAGATGACCTTGGCGCCACCACCCGGCCCTGGTGGTTAAACTAATAATATTATTATTATTATTATTATTAACCCCTGACCAAAACTACTGGTGTTATCTGTAAATTCCAGACATTGTATGAAAAAGCATTGCAAAACTTTCTGTTCTGTCAGCTGATGCATGTAACCCCCAGTCAAGTTCCCCACACTTGCTCTATCTATCACAACCCTTTCATGTGGACCCCTTAGAGTTG... | CTCCACCCCCTCCCCTTCTCTAGTTTATAAGACAGGAGAAAAGAGAGAAAGCAAAAAGTTGGAAAGAAACAGAAGTAAGATAAATAGCCAGATGACCTTGGCGCCACCACCCGGCCCTGGTGGTTAAACTAATAATATTATTATTATTATTATTATTAACCCCTGACCAAAACTACTGGTGTTATCTGTAAATTCCAGACATTGTATGAAAAAGCATTGCAAAACTTTCTGTTCTGTCAGCTGATGCATGTAACCCCCAGTCAAGTTCCCCACACTTGCTCTATCTATCACAACCCTTTCATGTGGACCCCTTAGAGTTG... | pathogenic | 320,250 |
Gene COL18A1 (collagen type XVIII alpha 1 chain) variant at chromosome 21, position 45473926—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Knobloch_syndrome_1', 'Retinal_dystrophy'] | CCGAAGTCCCTTAAATATTTACAATGGGCCTGTGGCTTTTGCACTAGCGCCTCCTGCCCCACCCCCGGAGCCAGCGGCCACCACGGGCTCAGAGCTTCTCTGCCCTCTGTAGTCGCCCCCCACCCAGGCACCCTGTAGCCCCGTGCAGGAGGCGTCGGCCCCTCGGGGGCACTCTCAGGAGAGCGCTGTGGCCACCTGTGGGGGGGTCAGGGCCTCACGGGCCTCTCTGGACAGTGCATGTCTGTGTGGGGATCGGGTGTCAGGAATGCCCAGTCCCTCCCCGACACCAAGACCACCCAAGATGCACCCCCCGCCCGGGC... | CCGAAGTCCCTTAAATATTTACAATGGGCCTGTGGCTTTTGCACTAGCGCCTCCTGCCCCACCCCCGGAGCCAGCGGCCACCACGGGCTCAGAGCTTCTCTGCCCTCTGTAGTCGCCCCCCACCCAGGCACCCTGTAGCCCCGTGCAGGAGGCGTCGGCCCCTCGGGGGCACTCTCAGGAGAGCGCTGTGGCCACCTGTGGGGGGGTCAGGGCCTCACGGGCCTCTCTGGACAGTGCATGTCTGTGTGGGGATCGGGTGTCAGGAATGCCCAGTCCCTCCCCGACACCAAGACCACCCAAGATGCACCCCCCGCCCGGGC... | pathogenic | 320,309 |
Chromosome 21, position 45477469, gene COL18A1 (collagen type XVIII alpha 1 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_glaucoma,_primary_closed-angle'] | TCGGGGCCTGGCCTGGCTGCCATCTCTCCAGCCTTTCCCTTTTCAAACTCCTCAGGCATCCGGAGACTCTGGCAGCGGGCTCGGGGACGCCCGGGAGCTTCTCAGGGAGGAGACGGTGAGTAGCCGGACGGGGCCCAGCCCACGCTGCAGGGTCCCGGGAGAGCCCCTCCCAGCAGTGGGGTGACACATGTGCACACGCAGGTGTGGCTCCAAGAGCTCCCTCTATGCCACGAAGACATATTCCTGGCTGGGGACAGGGATGCTGGGCTGGGCAGACGCTCGGAGCCTGGGCACAGGCCCCGCTCCGGCCCTGCCTGGCC... | TCGGGGCCTGGCCTGGCTGCCATCTCTCCAGCCTTTCCCTTTTCAAACTCCTCAGGCATCCGGAGACTCTGGCAGCGGGCTCGGGGACGCCCGGGAGCTTCTCAGGGAGGAGACGGTGAGTAGCCGGACGGGGCCCAGCCCACGCTGCAGGGTCCCGGGAGAGCCCCTCCCAGCAGTGGGGTGACACATGTGCACACGCAGGTGTGGCTCCAAGAGCTCCCTCTATGCCACGAAGACATATTCCTGGCTGGGGACAGGGATGCTGGGCTGGGCAGACGCTCGGAGCCTGGGCACAGGCCCCGCTCCGGCCCTGCCTGGCC... | pathogenic | 320,326 |
Located at chromosome 21 position 45477898, the variant affecting gene COL18A1 (collagen type XVIII alpha 1 chain)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Knobloch_syndrome'] | CTCGTGCGTGGCCATCAGGGAATGAACGCGTGTGTGAGCCTGACGACCAGGAGGAGAAGGCGGCGCAGGGAGCGCGCGGAAGGCTTTCCCCAGCTCGGGCCACCTGAGAAAACACAGGAGGGGCGGGGAGTGGGGAGGCCCCAGCCGCGGGACTGAGGCGCGGTGCTGTCCGTGAGAGACGGGTGCGGGAACGTGTTCCCTGCGGGGACCCTCTGCAGATTCACATCAGCTTCCCAGCATGGCCTGTCGGGCGCCGGGAGGCCTCTGTGGTGACGGCAGGCGCGGTCCTGGGTCCTGGGGAGCCGGGGAGCCCACAGGCG... | CTCGTGCGTGGCCATCAGGGAATGAACGCGTGTGTGAGCCTGACGACCAGGAGGAGAAGGCGGCGCAGGGAGCGCGCGGAAGGCTTTCCCCAGCTCGGGCCACCTGAGAAAACACAGGAGGGGCGGGGAGTGGGGAGGCCCCAGCCGCGGGACTGAGGCGCGGTGCTGTCCGTGAGAGACGGGTGCGGGAACGTGTTCCCTGCGGGGACCCTCTGCAGATTCACATCAGCTTCCCAGCATGGCCTGTCGGGCGCCGGGAGGCCTCTGTGGTGACGGCAGGCGCGGTCCTGGGTCCTGGGGAGCCGGGGAGCCCACAGGCG... | pathogenic | 320,329 |
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