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 chromosome 22, position 41515902, gene ACO2 (aconitase 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic | CTGTCACGGCCAGCGTCATCGTGACATCTTCTGCAGTCCTCATGTCTGCCTGACCTCTCCCCCTGGATGTGGACCACAAGTGTCTACACCGTGTGGACCACAAGTGTCTACACCGTGTAGACCACCCCGAATTCTGTGTGCCCAGCCTTCGTGGATCCAACTTTTACAAGCTTGAGGCTCTTTAGGGATGCACTAGTCTTAAATCCTTGTACGTGGCAGCATTGGCCAGTTCTTCGCAGCCAGGTCTTCCCTCTGCATCCCCAAGAGATGAGACCTTTGGACCTTAGAGTCTGCTAGGCAGATGCTTGTCCTGAGGCAGA... | CTGTCACGGCCAGCGTCATCGTGACATCTTCTGCAGTCCTCATGTCTGCCTGACCTCTCCCCCTGGATGTGGACCACAAGTGTCTACACCGTGTGGACCACAAGTGTCTACACCGTGTAGACCACCCCGAATTCTGTGTGCCCAGCCTTCGTGGATCCAACTTTTACAAGCTTGAGGCTCTTTAGGGATGCACTAGTCTTAAATCCTTGTACGTGGCAGCATTGGCCAGTTCTTCGCAGCCAGGTCTTCCCTCTGCATCCCCAAGAGATGAGACCTTTGGACCTTAGAGTCTGCTAGGCAGATGCTTGTCCTGAGGCAGA... | pathogenic | 327,656 |
Evaluate if the mutation on chromosome 22 at position 41527918 in ACO2 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases'] | GCACCCCTGTGACAGAAGAGACTAATCAGTCATCAGCCAGGACCCAGGCATGTCCTGGGCTCCTGTGTCCAGCATGAGGTCTGTGGCTGATCTTGCAGCTGAGGCCTGAAGGGTGAGCGAACATTGACCTGTCCCAACTTTGGGCGGCCTCTGCCCCATAAGGGAGACTGAGCAGCCAGAGGCCTTTGAGGGGATGAAGGCCTGGCCTGAGCCCATGTGGCCTTAGGGTGGAAGCACCAGGACCACAGAACACGTGTCTGAAGACTTGCCTGCCTCTCACCCCTCTGTCACCCCTCCTGGGCCCCGGGGCCTGCTGCCTG... | GCACCCCTGTGACAGAAGAGACTAATCAGTCATCAGCCAGGACCCAGGCATGTCCTGGGCTCCTGTGTCCAGCATGAGGTCTGTGGCTGATCTTGCAGCTGAGGCCTGAAGGGTGAGCGAACATTGACCTGTCCCAACTTTGGGCGGCCTCTGCCCCATAAGGGAGACTGAGCAGCCAGAGGCCTTTGAGGGGATGAAGGCCTGGCCTGAGCCCATGTGGCCTTAGGGTGGAAGCACCAGGACCACAGAACACGTGTCTGAAGACTTGCCTGCCTCTCACCCCTCTGTCACCCCTCCTGGGCCCCGGGGCCTGCTGCCTG... | pathogenic | 327,699 |
Regarding the variant found on chromosome 22 at position 42128173 in gene CYP2D6 (cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GAGGTGACTGTTGTGATGGTGCTGGCAGGACTGCTGTCCCTGATGTGGGGTGGGCTGAGTTAGGCCTGAAATATGGGCCTCCAGGCTGAGTCCTGCCCTCTCCACCACATCCAGGGCTGACTGACACCTCTAGTCAGCCCATTCTGGCCCCTTCCCCACATGCCAGGACAATGTAGTCCTTGTCACCAATCTGGGCAGTCAGAGTTGGGTCAGTGGGGGACATGGGATTATGGGCAAGGGTAACTGACATCTGCTCAGCCTCAACGTACCCCTGTCTCAAATGCGGCCAGGCGGTGGGGTAAGCAGGAATGAGGCAGGGG... | GAGGTGACTGTTGTGATGGTGCTGGCAGGACTGCTGTCCCTGATGTGGGGTGGGCTGAGTTAGGCCTGAAATATGGGCCTCCAGGCTGAGTCCTGCCCTCTCCACCACATCCAGGGCTGACTGACACCTCTAGTCAGCCCATTCTGGCCCCTTCCCCACATGCCAGGACAATGTAGTCCTTGTCACCAATCTGGGCAGTCAGAGTTGGGTCAGTGGGGGACATGGGATTATGGGCAAGGGTAACTGACATCTGCTCAGCCTCAACGTACCCCTGTCTCAAATGCGGCCAGGCGGTGGGGTAAGCAGGAATGAGGCAGGGG... | benign | 327,790 |
The genetic variant at chromosome 22, position 42128241, affecting gene CYP2D6 (cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)): benign or pathogenic? Disease name(s) if pathogenic? | benign | AAATATGGGCCTCCAGGCTGAGTCCTGCCCTCTCCACCACATCCAGGGCTGACTGACACCTCTAGTCAGCCCATTCTGGCCCCTTCCCCACATGCCAGGACAATGTAGTCCTTGTCACCAATCTGGGCAGTCAGAGTTGGGTCAGTGGGGGACATGGGATTATGGGCAAGGGTAACTGACATCTGCTCAGCCTCAACGTACCCCTGTCTCAAATGCGGCCAGGCGGTGGGGTAAGCAGGAATGAGGCAGGGGTGGGGTTGCCCTGAGGAGGATGATCCCAACGAGGGCGTGAGCAGGGGACCCGAGTTGGAACTACCACA... | AAATATGGGCCTCCAGGCTGAGTCCTGCCCTCTCCACCACATCCAGGGCTGACTGACACCTCTAGTCAGCCCATTCTGGCCCCTTCCCCACATGCCAGGACAATGTAGTCCTTGTCACCAATCTGGGCAGTCAGAGTTGGGTCAGTGGGGGACATGGGATTATGGGCAAGGGTAACTGACATCTGCTCAGCCTCAACGTACCCCTGTCTCAAATGCGGCCAGGCGGTGGGGTAAGCAGGAATGAGGCAGGGGTGGGGTTGCCCTGAGGAGGATGATCCCAACGAGGGCGTGAGCAGGGGACCCGAGTTGGAACTACCACA... | benign | 327,791 |
A genetic alteration at chromosome 22, position 42129083, in gene CYP2D6 (cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene))—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GATGCTGGGACCCCTGCCACCAAACACACGGGGGACACACACTGCCTGGCACACAGCTGGACTCTGTCAACTAGTCCTGCGCCCGAGAAGCTCCACAGTACCCTCTCCGACCCCACAGCAGGGCGCAGTCACACCTCTCAGAGGCACCCACACTGCCCCCTCTCCCTGCAGGCGTTGGGTCCTCCAACATTCTGGCAGGTCCTGGTTTGTCTCCCCACTAGACGGGGGCTCTGGATGGACAGGCCAGCCCTGCCTATACTCTGGACCCCCCACCCAAGTGGGGACAGTCAGTGTGGTGGCATTGAGGACTAGGTGGCCAG... | GATGCTGGGACCCCTGCCACCAAACACACGGGGGACACACACTGCCTGGCACACAGCTGGACTCTGTCAACTAGTCCTGCGCCCGAGAAGCTCCACAGTACCCTCTCCGACCCCACAGCAGGGCGCAGTCACACCTCTCAGAGGCACCCACACTGCCCCCTCTCCCTGCAGGCGTTGGGTCCTCCAACATTCTGGCAGGTCCTGGTTTGTCTCCCCACTAGACGGGGGCTCTGGATGGACAGGCCAGCCCTGCCTATACTCTGGACCCCCCACCCAAGTGGGGACAGTCAGTGTGGTGGCATTGAGGACTAGGTGGCCAG... | benign | 327,797 |
Evaluate this variant at chromosome 22, position 42210563, gene TCF20 (transcription factor 20): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Developmental_delay_with_variable_intellectual_impairment_and_behavioral_abnormalities', 'Neurodevelopmental_abnormality'] | TACCAGGGAGCCCCAGAGTTCGAGAATGCAGTAAGCTGTGATCGCACCACTGCATTCCAGCCTGAGTGACAACAAAACAAAACAAAACAAAACAAAACCAAAACAAAACCCACATACAAAAAAGATTAGATGATAAAGCTGAAGAAAGCATAGAGAAATCAGAACAAAAAGATAATGAGATAAAACATAAAACAGAGGAGAAAAGATAAAAACAGCGGATCAATCCAGGAGGTAAAATGCCTTATATTAACAGGAATTATAAAGAGAGCAGAGAAAATAGAGGGAAGGAAATTTTCAAAGAACTACCACATGACAAATTG... | TACCAGGGAGCCCCAGAGTTCGAGAATGCAGTAAGCTGTGATCGCACCACTGCATTCCAGCCTGAGTGACAACAAAACAAAACAAAACAAAACAAAACCAAAACAAAACCCACATACAAAAAAGATTAGATGATAAAGCTGAAGAAAGCATAGAGAAATCAGAACAAAAAGATAATGAGATAAAACATAAAACAGAGGAGAAAAGATAAAAACAGCGGATCAATCCAGGAGGTAAAATGCCTTATATTAACAGGAATTATAAAGAGAGCAGAGAAAATAGAGGGAAGGAAATTTTCAAAGAACTACCACATGACAAATTG... | pathogenic | 327,817 |
Regarding the variant found on chromosome 22 at position 42210568 in gene TCF20 (transcription factor 20): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Developmental_delay_with_variable_intellectual_impairment_and_behavioral_abnormalities'] | GGGAGCCCCAGAGTTCGAGAATGCAGTAAGCTGTGATCGCACCACTGCATTCCAGCCTGAGTGACAACAAAACAAAACAAAACAAAACAAAACCAAAACAAAACCCACATACAAAAAAGATTAGATGATAAAGCTGAAGAAAGCATAGAGAAATCAGAACAAAAAGATAATGAGATAAAACATAAAACAGAGGAGAAAAGATAAAAACAGCGGATCAATCCAGGAGGTAAAATGCCTTATATTAACAGGAATTATAAAGAGAGCAGAGAAAATAGAGGGAAGGAAATTTTCAAAGAACTACCACATGACAAATTGCCTGA... | GGGAGCCCCAGAGTTCGAGAATGCAGTAAGCTGTGATCGCACCACTGCATTCCAGCCTGAGTGACAACAAAACAAAACAAAACAAAACAAAACCAAAACAAAACCCACATACAAAAAAGATTAGATGATAAAGCTGAAGAAAGCATAGAGAAATCAGAACAAAAAGATAATGAGATAAAACATAAAACAGAGGAGAAAAGATAAAAACAGCGGATCAATCCAGGAGGTAAAATGCCTTATATTAACAGGAATTATAAAGAGAGCAGAGAAAATAGAGGGAAGGAAATTTTCAAAGAACTACCACATGACAAATTGCCTGA... | pathogenic | 327,818 |
The mutation impacting TCF20 (transcription factor 20) on chromosome 22 at position 42211501: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Intellectual_disability', 'TCF20-related_disorder'] | ACATTTCAAAAAATGAAAAACGATTTTAGAAGTCTATACAAATCTTCCAAATTACCTATTTCATTTTCTGTCCATCACATGGGCATAGGCACTTTAATTTGGAGGAATAATCATGTGACATGTAAGAACAAAAACATGCAAGAAAAGGAACCAAATGAAATAAAAATCCCAAGCTGGTAAGAGATTTCTCATACTCACCATCTCTCTGGCTATTTCCAGCGCTTCCTGCAGGCCATAGAGCCTGCCACAAACCAGGTAGATTCCATTGGCCCAGAGAATACAACCCTCATGGACCCAAAATTCATTGCTGTCAAGAGGTA... | ACATTTCAAAAAATGAAAAACGATTTTAGAAGTCTATACAAATCTTCCAAATTACCTATTTCATTTTCTGTCCATCACATGGGCATAGGCACTTTAATTTGGAGGAATAATCATGTGACATGTAAGAACAAAAACATGCAAGAAAAGGAACCAAATGAAATAAAAATCCCAAGCTGGTAAGAGATTTCTCATACTCACCATCTCTCTGGCTATTTCCAGCGCTTCCTGCAGGCCATAGAGCCTGCCACAAACCAGGTAGATTCCATTGGCCCAGAGAATACAACCCTCATGGACCCAAAATTCATTGCTGTCAAGAGGTA... | pathogenic | 327,830 |
Regarding the variant found on chromosome 22 at position 42212222 in gene TCF20 (transcription factor 20): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Developmental_delay_with_variable_intellectual_impairment_and_behavioral_abnormalities'] | CACTTGCCACACAGACAGCAAACCAGGTGCCCCATAACCGAAGACTCTGTCACAACAGGTCCCTGCAGCATAAAGGACGAGGCCGGGAGCGCCTTGCTTTCAGTGCTGCTAGGTGGAGGGGTCAGTGACCTCTGACCCTTCCTGCCCCTCACTAATTTGGTCTGTTCTTCTTCCTCAGCATTGATGATTGTACAAACGGCTCCAAGTTCACACTTATTTACTACATGGATGTAAGGGTAAAAAGACTTGTTCTTGGCATCAGTTTTATCCAGTGGCTGGGTGGCATATTTTAGTTTGATCTCAGGTTCTTGGGGTTCCAC... | CACTTGCCACACAGACAGCAAACCAGGTGCCCCATAACCGAAGACTCTGTCACAACAGGTCCCTGCAGCATAAAGGACGAGGCCGGGAGCGCCTTGCTTTCAGTGCTGCTAGGTGGAGGGGTCAGTGACCTCTGACCCTTCCTGCCCCTCACTAATTTGGTCTGTTCTTCTTCCTCAGCATTGATGATTGTACAAACGGCTCCAAGTTCACACTTATTTACTACATGGATGTAAGGGTAAAAAGACTTGTTCTTGGCATCAGTTTTATCCAGTGGCTGGGTGGCATATTTTAGTTTGATCTCAGGTTCTTGGGGTTCCAC... | pathogenic | 327,839 |
Located at chromosome 22 position 42212518, the variant affecting gene TCF20 (transcription factor 20)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases'] | GATCTCAGGTTCTTGGGGTTCCACAATGGGAACTGCTTGTTTGGTTTTTCGCTTCCTCGGCTGGGCCCCAGGCTTCCTTCTCTCCCTCCTTTGCCTCTGTTTTTTTGGCTTTGGCTCTCCATCTGCAGAACCTTCTGGTATCTGTGGGGGCTGAGGGGGTGGAGGCGGTGGCTGCTGCTGTTTCTTTTGCTTATTCACACTACCAATGGGTCTCCCCTTCTTCTTTCCTGATGGGAAATATCCCTTTGGAGGGAAACCCTCTTGCTTCGGTGAAATCGTCACTGTATCGTTCTCCTTCTCTTCAGCCTTGGGGTTTGCCT... | GATCTCAGGTTCTTGGGGTTCCACAATGGGAACTGCTTGTTTGGTTTTTCGCTTCCTCGGCTGGGCCCCAGGCTTCCTTCTCTCCCTCCTTTGCCTCTGTTTTTTTGGCTTTGGCTCTCCATCTGCAGAACCTTCTGGTATCTGTGGGGGCTGAGGGGGTGGAGGCGGTGGCTGCTGCTGTTTCTTTTGCTTATTCACACTACCAATGGGTCTCCCCTTCTTCTTTCCTGATGGGAAATATCCCTTTGGAGGGAAACCCTCTTGCTTCGGTGAAATCGTCACTGTATCGTTCTCCTTCTCTTCAGCCTTGGGGTTTGCCT... | pathogenic | 327,844 |
A mutation at chromosome position 42212737 on chromosome 22 in gene TCF20 (transcription factor 20): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Developmental_delay_with_variable_intellectual_impairment_and_behavioral_abnormalities'] | CTTCTTTCCTGATGGGAAATATCCCTTTGGAGGGAAACCCTCTTGCTTCGGTGAAATCGTCACTGTATCGTTCTCCTTCTCTTCAGCCTTGGGGTTTGCCTCAGGGGCCAATATGCCCACTGGAGGTACATTCTTTGAGTCTGGAAAGATTAAAGGTGCTGTTCCACCCAGGGAACCATCTGGTCTCCCTTGGTTACTACCAGGCTTCTGTGAGGTTGTGGATGTCATGGCACCAGGGGGTTCCTTTCCGGCAGTAACTGTTTCTGCATGTGTCTCTGTCTTCACTTTGTCATCCACGCTGCCACGCCACTCTTCTGAAG... | CTTCTTTCCTGATGGGAAATATCCCTTTGGAGGGAAACCCTCTTGCTTCGGTGAAATCGTCACTGTATCGTTCTCCTTCTCTTCAGCCTTGGGGTTTGCCTCAGGGGCCAATATGCCCACTGGAGGTACATTCTTTGAGTCTGGAAAGATTAAAGGTGCTGTTCCACCCAGGGAACCATCTGGTCTCCCTTGGTTACTACCAGGCTTCTGTGAGGTTGTGGATGTCATGGCACCAGGGGGTTCCTTTCCGGCAGTAACTGTTTCTGCATGTGTCTCTGTCTTCACTTTGTCATCCACGCTGCCACGCCACTCTTCTGAAG... | pathogenic | 327,846 |
Is the genetic change at chromosome 22, position 42213494, within gene TCF20 (transcription factor 20) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autism', 'Intellectual_disability,_mild'] | GAGTGAAGGAGGCGACCTTTATCTTCAGTGCTACTGTTCTTTACATCTTGTGACTGTCTCTTACTGGGAATGGGAGAGATAAAAGAACGAACACGCCTCCTCATGATTAAGGGGTTTTGAGAAGAATGATCCTCCTGGCCTGGAAGTCTCAGCATAACACTACCAGGTTTGGATGACTGTGTAGCCTCAGCTAGTCCATGTCCATCAGTCTCATGGGGCGGCCCATACCTTTTTTGACTGGACATTCCTGGAGGACCGCTGCTTTTGGCTGGAGAAGTTTGCCGAGAAAGATCCCAACAGGATTCTTGTAACTTCTGGGA... | GAGTGAAGGAGGCGACCTTTATCTTCAGTGCTACTGTTCTTTACATCTTGTGACTGTCTCTTACTGGGAATGGGAGAGATAAAAGAACGAACACGCCTCCTCATGATTAAGGGGTTTTGAGAAGAATGATCCTCCTGGCCTGGAAGTCTCAGCATAACACTACCAGGTTTGGATGACTGTGTAGCCTCAGCTAGTCCATGTCCATCAGTCTCATGGGGCGGCCCATACCTTTTTTGACTGGACATTCCTGGAGGACCGCTGCTTTTGGCTGGAGAAGTTTGCCGAGAAAGATCCCAACAGGATTCTTGTAACTTCTGGGA... | pathogenic | 327,858 |
Evaluate this variant at chromosome 22, position 42214566, gene TCF20 (transcription factor 20): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CTTTTATCTGCCCGCTCTGGGATTTCAGCTTGGTTTCCATGGACACCAAACCACCAGGAAGAATGACCGACTGACTTAAAGTTGGATTGAGACGGTCATTCCTCCCAATTCTGGTGTCGGCACTCATGTGTCCCAGTGAGTGAGCCCCTGGGTCCCTGACAATCTGTCTTAGTGGAGAAATATCACAGATCACTGATCTTCTTTCAGAGAGGGAACCCCCAGGCTCATGTGCTGATGACTGAGGCTCTATTTCAAACTTTCTGGGAATTGGATAGTCAGTCAAATTGATCTGTTTCATTTCAGGAGCTGTGCTGCTTGAT... | CTTTTATCTGCCCGCTCTGGGATTTCAGCTTGGTTTCCATGGACACCAAACCACCAGGAAGAATGACCGACTGACTTAAAGTTGGATTGAGACGGTCATTCCTCCCAATTCTGGTGTCGGCACTCATGTGTCCCAGTGAGTGAGCCCCTGGGTCCCTGACAATCTGTCTTAGTGGAGAAATATCACAGATCACTGATCTTCTTTCAGAGAGGGAACCCCCAGGCTCATGTGCTGATGACTGAGGCTCTATTTCAAACTTTCTGGGAATTGGATAGTCAGTCAAATTGATCTGTTTCATTTCAGGAGCTGTGCTGCTTGAT... | benign | 327,871 |
The mutation in gene TCF20 (transcription factor 20) at chromosome 22, position 42214941—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Developmental_delay_with_variable_intellectual_impairment_and_behavioral_abnormalities', 'Neurodevelopmental_abnormality'] | TCAGAAGGCCCCTGCTAGCTAATTCATTGGTTTGACTAACCAAGACATTGGGCCTTGTGGTTCCTTCTAGGCTACCAGCCATCCCCTGATGCTCTTGAGTACTCCTAGAATATCTCCTGTCAGGGTGGTGGTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTA... | TCAGAAGGCCCCTGCTAGCTAATTCATTGGTTTGACTAACCAAGACATTGGGCCTTGTGGTTCCTTCTAGGCTACCAGCCATCCCCTGATGCTCTTGAGTACTCCTAGAATATCTCCTGTCAGGGTGGTGGTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTA... | pathogenic | 327,874 |
Mutation found at chromosome 22 position 42215071, gene TCF20 (transcription factor 20): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTG... | GTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTG... | benign | 327,878 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 42215138, gene TCF20 (transcription factor 20). What disease(s) is it linked to if pathogenic? | benign | TGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGC... | TGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGC... | benign | 327,883 |
A genetic alteration at chromosome 22, position 42215140, in gene TCF20 (transcription factor 20)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAG... | GCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAG... | benign | 327,884 |
Does the variant on chromosome 22 at location 46337791 affecting gene TRMU (tRNA mitochondrial 2-thiouridylase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness'] | GGCGAAGTTGGGCGACTGGCGGATGCAGGCCTTGCGGCACGTCGTGTGCGCCCTGTCCGGCGGCGTGGACAGCGCCGTGGCCGCGCTGCTGCTGAGGCGGAGAGGTGAGGCGTCCGAGGCTCCCGCCCCCCGCCGAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTG... | GGCGAAGTTGGGCGACTGGCGGATGCAGGCCTTGCGGCACGTCGTGTGCGCCCTGTCCGGCGGCGTGGACAGCGCCGTGGCCGCGCTGCTGCTGAGGCGGAGAGGTGAGGCGTCCGAGGCTCCCGCCCCCCGCCGAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTG... | pathogenic | 328,111 |
Clinical classification of chromosome 22, position 46337867, gene TRMU (tRNA mitochondrial 2-thiouridylase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness'] | GTGGCCGCGCTGCTGCTGAGGCGGAGAGGTGAGGCGTCCGAGGCTCCCGCCCCCCGCCGAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGG... | GTGGCCGCGCTGCTGCTGAGGCGGAGAGGTGAGGCGTCCGAGGCTCCCGCCCCCCGCCGAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGG... | pathogenic | 328,113 |
Is the genetic change at chromosome 22, position 46337868, within gene TRMU (tRNA mitochondrial 2-thiouridylase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness'] | TGGCCGCGCTGCTGCTGAGGCGGAGAGGTGAGGCGTCCGAGGCTCCCGCCCCCCGCCGAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGA... | TGGCCGCGCTGCTGCTGAGGCGGAGAGGTGAGGCGTCCGAGGCTCCCGCCCCCCGCCGAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGA... | pathogenic | 328,114 |
Does the chromosome 22 mutation at position 46343269 within gene TRMU (tRNA mitochondrial 2-thiouridylase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Aminoglycoside-induced_deafness'] | GTGTCTTTTCAGAAACTGATTTTAATGTTCAGCCTCTTCAACATTTATTGATGACTGTGATATAGAAAGTTTGTTGGGTCTAGGACACAGACACAGATTGCACCTTAAGTAGTTTATAGTTTAATGAGCTTCCTGGTAACTTTCTAATAATTAAAGCAAAATGGAAAGAGTGTAATAATATCAAGTGTTGTTGCAAATGTGGAAAAACATGAGTTTTTATGAACTTCTAGGGGGACTGAGAAGTAGGAAAACAGTTTGGTGCCTGCTAAAGTGGAAGATATCCAAGGAACCTCTGACCCTGTGCAGATCTGTGATATGTC... | GTGTCTTTTCAGAAACTGATTTTAATGTTCAGCCTCTTCAACATTTATTGATGACTGTGATATAGAAAGTTTGTTGGGTCTAGGACACAGACACAGATTGCACCTTAAGTAGTTTATAGTTTAATGAGCTTCCTGGTAACTTTCTAATAATTAAAGCAAAATGGAAAGAGTGTAATAATATCAAGTGTTGTTGCAAATGTGGAAAAACATGAGTTTTTATGAACTTCTAGGGGGACTGAGAAGTAGGAAAACAGTTTGGTGCCTGCTAAAGTGGAAGATATCCAAGGAACCTCTGACCCTGTGCAGATCTGTGATATGTC... | pathogenic | 328,120 |
Determine if the mutation at chromosome 22, position 46343340 in gene TRMU (tRNA mitochondrial 2-thiouridylase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness'] | TGTTGGGTCTAGGACACAGACACAGATTGCACCTTAAGTAGTTTATAGTTTAATGAGCTTCCTGGTAACTTTCTAATAATTAAAGCAAAATGGAAAGAGTGTAATAATATCAAGTGTTGTTGCAAATGTGGAAAAACATGAGTTTTTATGAACTTCTAGGGGGACTGAGAAGTAGGAAAACAGTTTGGTGCCTGCTAAAGTGGAAGATATCCAAGGAACCTCTGACCCTGTGCAGATCTGTGATATGTCTGCAAAACACAAACCTCTTGATCAGCACTGGTTTTTTTTTTAACCCTTGTTGATTAATAGAGAGTTTTAGG... | TGTTGGGTCTAGGACACAGACACAGATTGCACCTTAAGTAGTTTATAGTTTAATGAGCTTCCTGGTAACTTTCTAATAATTAAAGCAAAATGGAAAGAGTGTAATAATATCAAGTGTTGTTGCAAATGTGGAAAAACATGAGTTTTTATGAACTTCTAGGGGGACTGAGAAGTAGGAAAACAGTTTGGTGCCTGCTAAAGTGGAAGATATCCAAGGAACCTCTGACCCTGTGCAGATCTGTGATATGTCTGCAAAACACAAACCTCTTGATCAGCACTGGTTTTTTTTTTAACCCTTGTTGATTAATAGAGAGTTTTAGG... | pathogenic | 328,123 |
Benign or pathogenic: chromosome 22, position 46346419, gene TRMU (tRNA mitochondrial 2-thiouridylase) variant? Disease(s) if pathogenic? | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness'] | GAGTGATAGACTGATAGAATGTGAATTGATTTTTATTTTCAGGGTATCTGGAAATATGTCCTCCCTGAACTGTTGAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTT... | GAGTGATAGACTGATAGAATGTGAATTGATTTTTATTTTCAGGGTATCTGGAAATATGTCCTCCCTGAACTGTTGAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTT... | pathogenic | 328,128 |
Does the chromosome 22 mutation at position 46346460 within gene TRMU (tRNA mitochondrial 2-thiouridylase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Aminoglycoside-induced_deafness'] | GGGTATCTGGAAATATGTCCTCCCTGAACTGTTGAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATG... | GGGTATCTGGAAATATGTCCTCCCTGAACTGTTGAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATG... | pathogenic | 328,130 |
Assess the variant on chromosome 22, position 46346493, impacting TRMU (tRNA mitochondrial 2-thiouridylase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Aminoglycoside-induced_deafness'] | GAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCCCAGACTTCTGAACTCACC... | GAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCCCAGACTTCTGAACTCACC... | pathogenic | 328,131 |
Mutation at chromosome 22, position 46346521, within TRMU (tRNA mitochondrial 2-thiouridylase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Aminoglycoside-induced_deafness'] | GTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCCCAGACTTCTGAACTCACCGCGCTTCTCAGAGGCATCCTGCGCTTTT... | GTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCCCAGACTTCTGAACTCACCGCGCTTCTCAGAGGCATCCTGCGCTTTT... | pathogenic | 328,133 |
Evaluate this variant at chromosome 22, position 46350387, gene TRMU (tRNA mitochondrial 2-thiouridylase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness'] | GTGCGTTTGGCATGTGGGAATTGTGATGGTGCACAGTGTCTTGGCCTTCACTGGGTTTTGTAGGCACACTAAGGTTTCCATTTCATTCTTCTTCAGTTGCCCTGGCCCAGCCTGGGTCTCTGGGTAGAGCACCTGCAGGGGCAGTGGACGGCCTGGGCTCAGGGTCGGTCAGCACCTGAGACCAGCGCTCCTAGGCCTGGCCTGTGACTGGGCTGATTTTCCCCCACACAGCGTGCTACCACCGGCCTGGCAGAGCCAGCACGGCAGCCGGCGTGTCAGTGAGGCTCCAGCACAGGCAGCCTCCTCCAAATGTTGTTCAT... | GTGCGTTTGGCATGTGGGAATTGTGATGGTGCACAGTGTCTTGGCCTTCACTGGGTTTTGTAGGCACACTAAGGTTTCCATTTCATTCTTCTTCAGTTGCCCTGGCCCAGCCTGGGTCTCTGGGTAGAGCACCTGCAGGGGCAGTGGACGGCCTGGGCTCAGGGTCGGTCAGCACCTGAGACCAGCGCTCCTAGGCCTGGCCTGTGACTGGGCTGATTTTCCCCCACACAGCGTGCTACCACCGGCCTGGCAGAGCCAGCACGGCAGCCGGCGTGTCAGTGAGGCTCCAGCACAGGCAGCCTCCTCCAAATGTTGTTCAT... | pathogenic | 328,141 |
Is the genetic variant on chromosome 22, position 46350387, gene TRMU (tRNA mitochondrial 2-thiouridylase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Aminoglycoside-induced_deafness'] | GTGCGTTTGGCATGTGGGAATTGTGATGGTGCACAGTGTCTTGGCCTTCACTGGGTTTTGTAGGCACACTAAGGTTTCCATTTCATTCTTCTTCAGTTGCCCTGGCCCAGCCTGGGTCTCTGGGTAGAGCACCTGCAGGGGCAGTGGACGGCCTGGGCTCAGGGTCGGTCAGCACCTGAGACCAGCGCTCCTAGGCCTGGCCTGTGACTGGGCTGATTTTCCCCCACACAGCGTGCTACCACCGGCCTGGCAGAGCCAGCACGGCAGCCGGCGTGTCAGTGAGGCTCCAGCACAGGCAGCCTCCTCCAAATGTTGTTCAT... | GTGCGTTTGGCATGTGGGAATTGTGATGGTGCACAGTGTCTTGGCCTTCACTGGGTTTTGTAGGCACACTAAGGTTTCCATTTCATTCTTCTTCAGTTGCCCTGGCCCAGCCTGGGTCTCTGGGTAGAGCACCTGCAGGGGCAGTGGACGGCCTGGGCTCAGGGTCGGTCAGCACCTGAGACCAGCGCTCCTAGGCCTGGCCTGTGACTGGGCTGATTTTCCCCCACACAGCGTGCTACCACCGGCCTGGCAGAGCCAGCACGGCAGCCGGCGTGTCAGTGAGGCTCCAGCACAGGCAGCCTCCTCCAAATGTTGTTCAT... | pathogenic | 328,142 |
Evaluate if the mutation on chromosome 22 at position 46352160 in TRMU (tRNA mitochondrial 2-thiouridylase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Aminoglycoside-induced_deafness'] | GTGCGAATTTTTCTTACATTAACCCGTGGTGGTCTTTTCCCTAGTAGTTGCTATTGAGTGTTGATGTCTGCCTCTGACAGGCTAGGGGTAGTCTGTCTAAGTGAACAGAAGGACATTGTTGAAAGTGAAGTATCATTATTTTTATTCCTGCATCGTCTTTTGTTCTTTATTCTTGGCAGCGGTAAAACTCCTCCAGGCAGCTGACAGCTTTAAAGACCAGACCTTCTTTCTCAGCCAGGTTTCCCAGGATGCCCTGAGGAGAACCATCTTCCCTCTGGGGGGATTAACGAAAGAGTTTGTAAAGAAAATCGCTGCTGAGA... | GTGCGAATTTTTCTTACATTAACCCGTGGTGGTCTTTTCCCTAGTAGTTGCTATTGAGTGTTGATGTCTGCCTCTGACAGGCTAGGGGTAGTCTGTCTAAGTGAACAGAAGGACATTGTTGAAAGTGAAGTATCATTATTTTTATTCCTGCATCGTCTTTTGTTCTTTATTCTTGGCAGCGGTAAAACTCCTCCAGGCAGCTGACAGCTTTAAAGACCAGACCTTCTTTCTCAGCCAGGTTTCCCAGGATGCCCTGAGGAGAACCATCTTCCCTCTGGGGGGATTAACGAAAGAGTTTGTAAAGAAAATCGCTGCTGAGA... | pathogenic | 328,150 |
For chromosome 22, position 46352268, gene TRMU (tRNA mitochondrial 2-thiouridylase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins'] | AAGGACATTGTTGAAAGTGAAGTATCATTATTTTTATTCCTGCATCGTCTTTTGTTCTTTATTCTTGGCAGCGGTAAAACTCCTCCAGGCAGCTGACAGCTTTAAAGACCAGACCTTCTTTCTCAGCCAGGTTTCCCAGGATGCCCTGAGGAGAACCATCTTCCCTCTGGGGGGATTAACGAAAGAGTTTGTAAAGAAAATCGCTGCTGAGAATAGACTTCATCATGTGCTTCAGAAGAAAGAGGTACGAGTGAGCAGTTGCCTTTGATTAGTGCCTGTTTCCCTTTCCCGACTGCATGGCACGGAGCAGCTGGACCTGT... | AAGGACATTGTTGAAAGTGAAGTATCATTATTTTTATTCCTGCATCGTCTTTTGTTCTTTATTCTTGGCAGCGGTAAAACTCCTCCAGGCAGCTGACAGCTTTAAAGACCAGACCTTCTTTCTCAGCCAGGTTTCCCAGGATGCCCTGAGGAGAACCATCTTCCCTCTGGGGGGATTAACGAAAGAGTTTGTAAAGAAAATCGCTGCTGAGAATAGACTTCATCATGTGCTTCAGAAGAAAGAGGTACGAGTGAGCAGTTGCCTTTGATTAGTGCCTGTTTCCCTTTCCCGACTGCATGGCACGGAGCAGCTGGACCTGT... | pathogenic | 328,155 |
Gene TRMU (tRNA mitochondrial 2-thiouridylase) variant at chromosome 22, position 46353796—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness'] | GCCTTAGCTTCAGGCCTGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAG... | GCCTTAGCTTCAGGCCTGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAG... | pathogenic | 328,166 |
Is the genetic mutation found on chromosome 22 at position 46353812, within the gene TRMU (tRNA mitochondrial 2-thiouridylase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Aminoglycoside-induced_deafness'] | TGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAGCTTGGGCCACCGCCAC... | TGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAGCTTGGGCCACCGCCAC... | pathogenic | 328,167 |
Evaluate this variant at chromosome 22, position 46355444, gene TRMU (tRNA mitochondrial 2-thiouridylase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness'] | ACACTGTGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACA... | ACACTGTGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACA... | pathogenic | 328,176 |
Gene mutation in TRMU (tRNA mitochondrial 2-thiouridylase) at chromosome 22, position 46355446—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness'] | ACTGTGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATG... | ACTGTGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATG... | pathogenic | 328,177 |
Is the variant located on chromosome 22 at position 46355450, gene TRMU (tRNA mitochondrial 2-thiouridylase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness'] | TGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATGTGGG... | TGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATGTGGG... | pathogenic | 328,178 |
The genetic variant at chromosome 22, position 46356007, affecting gene TRMU (tRNA mitochondrial 2-thiouridylase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Aminoglycoside-induced_deafness'] | CCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTGCCCACCATGGTAGGATCCAGTGAGTTGTTGTCAGGCAGGTGCAGATGGCCAAGCCAGGATCAAACCAAGCC... | CCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTGCCCACCATGGTAGGATCCAGTGAGTTGTTGTCAGGCAGGTGCAGATGGCCAAGCCAGGATCAAACCAAGCC... | pathogenic | 328,185 |
A genetic variant at chromosome 22, position 49904057, affecting gene ALG12 (ALG12 alpha-1,6-mannosyltransferase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['ALG12-congenital_disorder_of_glycosylation'] | ATGGTAATGTGCACGCGTGCACTGTGTGTATGCATGGTAACGTACACGTGTGCACTGTGTGTGGTGTGCATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTGTGTGCATGTGTGCACTGTATGCATAGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTG... | ATGGTAATGTGCACGCGTGCACTGTGTGTATGCATGGTAACGTACACGTGTGCACTGTGTGTGGTGTGCATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTGTGTGCATGTGTGCACTGTATGCATAGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTG... | pathogenic | 328,271 |
A mutation at chromosome position 49904342 on chromosome 22 in gene ALG12 (ALG12 alpha-1,6-mannosyltransferase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['ALG12-congenital_disorder_of_glycosylation'] | CACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTATGCATGGTAATGTGCACGCGTGCACTGTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGT... | CACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTATGCATGGTAATGTGCACGCGTGCACTGTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGT... | pathogenic | 328,274 |
A genetic alteration at chromosome 22, position 49904497, in gene ALG12 (ALG12 alpha-1,6-mannosyltransferase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['ALG12-congenital_disorder_of_glycosylation', 'Inborn_genetic_diseases'] | GTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTATGCATGGTAATGTGCACGCGTGCACTGTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATAGTGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGC... | GTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTATGCATGGTAATGTGCACGCGTGCACTGTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATAGTGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGC... | pathogenic | 328,276 |
Does the variant impacting ALG12 (ALG12 alpha-1,6-mannosyltransferase) on chromosome 22, position 49907781, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['ALG12-congenital_disorder_of_glycosylation'] | TCTTTATAAATTATCCAGTCTCAGGTGTTTCTTTACATCAGTGCGAGAGCAGACTAGTGCACCCTTGAACAATCTCTGGTGCGGTTTCTGAGCTCGAGGCCCCACCTAGGATGACCGCAGCCTCCTAAGTGCCTGCCCCAAAGAGCTCAGCACTGCCAGGGCGTTCGTCCTTTGTTCCCGCCCAAACCTGGAGTGGGCAGTCACTGTGGAAAGCTCGCAATCAGAAACCTTCCACCCCCAGGACTGTCTCAAGGCCCTGGGCCCTGACACCGTGGGAAACGGCCTGCTCTTGCTCCCAGGGTGGCCGGGCTGAGGACCTG... | TCTTTATAAATTATCCAGTCTCAGGTGTTTCTTTACATCAGTGCGAGAGCAGACTAGTGCACCCTTGAACAATCTCTGGTGCGGTTTCTGAGCTCGAGGCCCCACCTAGGATGACCGCAGCCTCCTAAGTGCCTGCCCCAAAGAGCTCAGCACTGCCAGGGCGTTCGTCCTTTGTTCCCGCCCAAACCTGGAGTGGGCAGTCACTGTGGAAAGCTCGCAATCAGAAACCTTCCACCCCCAGGACTGTCTCAAGGCCCTGGGCCCTGACACCGTGGGAAACGGCCTGCTCTTGCTCCCAGGGTGGCCGGGCTGAGGACCTG... | pathogenic | 328,280 |
Is the chromosome 22, position 49909242 variant in ALG12 (ALG12 alpha-1,6-mannosyltransferase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['ALG12-congenital_disorder_of_glycosylation'] | CTTCCTCTACCTGACCTGTCGCCCTCAGAGCCTCCCAGGCCTGGCTGCCCCTGCCCTCTGCCGCTGCTACCTATGTGAGTGTCACTCTCCCATGACAGAGACTGGGACCGCTGGTGCATCACCATATGTGGACCAGTCACCAAATTAACCCAAGACAGAGACCACCTGAGCAAAGCCCTCTGTCAGCACAATGCCAGGCCGGTCCCATCCCATGCAGCCCTCAGGGAGGAGAGAGGACTGGGGTCACCCTCCTTTGACATAAGCGCCTAGTTCAACACACCCTGTGTTTATCTTAAAAAACAGCCCTGGTGGCTCACACC... | CTTCCTCTACCTGACCTGTCGCCCTCAGAGCCTCCCAGGCCTGGCTGCCCCTGCCCTCTGCCGCTGCTACCTATGTGAGTGTCACTCTCCCATGACAGAGACTGGGACCGCTGGTGCATCACCATATGTGGACCAGTCACCAAATTAACCCAAGACAGAGACCACCTGAGCAAAGCCCTCTGTCAGCACAATGCCAGGCCGGTCCCATCCCATGCAGCCCTCAGGGAGGAGAGAGGACTGGGGTCACCCTCCTTTGACATAAGCGCCTAGTTCAACACACCCTGTGTTTATCTTAAAAAACAGCCCTGGTGGCTCACACC... | pathogenic | 328,284 |
A genetic variant at chromosome 22, position 49913648, affecting gene ALG12 (ALG12 alpha-1,6-mannosyltransferase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['ALG12-congenital_disorder_of_glycosylation'] | AATTTTTGTATTTTTAGTAGAGACAAGGTTTCCCATGTTGGCCAGGATGGTCTCAAACTCCTGACCTCAGGTGATCCCCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGTCTGAATGTCTTAATAGGACATTTTTCACTGATACTCACAAGTGGGTCTGGCTCCAGCTGCTGTATTTTTGGTGCTGGAATTTCCCCCGGGCTTTTAAACAATTCACAGACCCCAGCAAAGCCCCGCTTCCCCTTTTCCCCATCAGGTCCATCCCCTGCGTCTCTTCTCTTGGTTTTCCATCTTCCCA... | AATTTTTGTATTTTTAGTAGAGACAAGGTTTCCCATGTTGGCCAGGATGGTCTCAAACTCCTGACCTCAGGTGATCCCCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGTCTGAATGTCTTAATAGGACATTTTTCACTGATACTCACAAGTGGGTCTGGCTCCAGCTGCTGTATTTTTGGTGCTGGAATTTCCCCCGGGCTTTTAAACAATTCACAGACCCCAGCAAAGCCCCGCTTCCCCTTTTCCCCATCAGGTCCATCCCCTGCGTCTCTTCTCTTGGTTTTCCATCTTCCCA... | pathogenic | 328,304 |
Does the variant on chromosome 22 at location 49913735 affecting gene ALG12 (ALG12 alpha-1,6-mannosyltransferase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['ALG12-congenital_disorder_of_glycosylation'] | GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGTCTGAATGTCTTAATAGGACATTTTTCACTGATACTCACAAGTGGGTCTGGCTCCAGCTGCTGTATTTTTGGTGCTGGAATTTCCCCCGGGCTTTTAAACAATTCACAGACCCCAGCAAAGCCCCGCTTCCCCTTTTCCCCATCAGGTCCATCCCCTGCGTCTCTTCTCTTGGTTTTCCATCTTCCCAAATGCCCAACAATCTCAACCCCGTGCCCAACAAGGGTAGCCTCGGCCTCACGATCAGCCTCGGCTGCGGGATCACCCTCGGCCCCGG... | GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGTCTGAATGTCTTAATAGGACATTTTTCACTGATACTCACAAGTGGGTCTGGCTCCAGCTGCTGTATTTTTGGTGCTGGAATTTCCCCCGGGCTTTTAAACAATTCACAGACCCCAGCAAAGCCCCGCTTCCCCTTTTCCCCATCAGGTCCATCCCCTGCGTCTCTTCTCTTGGTTTTCCATCTTCCCAAATGCCCAACAATCTCAACCCCGTGCCCAACAAGGGTAGCCTCGGCCTCACGATCAGCCTCGGCTGCGGGATCACCCTCGGCCCCGG... | pathogenic | 328,308 |
Evaluate if the mutation on chromosome 22 at position 50064040 in MLC1 (modulator of VRAC current 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GAAAACACTTAAGGCAGAGGTAACCAGATGCCTCCAGGCAAAAGGGAGGACAGCGCCAGCCCCAGCTGTCCACCCTGAGCCCCAGTTGTCCACCCTGAGCCCCAGCTGTCCACCCTGAGCCCCAGTTGTCCACCCTGAGCCCCAGCCACCCACCCTGAGCCCCTGGGCCCCAGCCGTCCACCCTAAGCCCCAGCCATCCACCCTGAGCCCCAGCCGTCCACCCTGAGCCCCAGCCGCCCACCCTGAGCCCCAACCGCCCACCCTGAGCCCAAGCCACCCACCTTGAGCCCCAGCCGTCCATCCTGAGCCCCAGCCGCCCA... | GAAAACACTTAAGGCAGAGGTAACCAGATGCCTCCAGGCAAAAGGGAGGACAGCGCCAGCCCCAGCTGTCCACCCTGAGCCCCAGTTGTCCACCCTGAGCCCCAGCTGTCCACCCTGAGCCCCAGTTGTCCACCCTGAGCCCCAGCCACCCACCCTGAGCCCCTGGGCCCCAGCCGTCCACCCTAAGCCCCAGCCATCCACCCTGAGCCCCAGCCGTCCACCCTGAGCCCCAGCCGCCCACCCTGAGCCCCAACCGCCCACCCTGAGCCCAAGCCACCCACCTTGAGCCCCAGCCGTCCATCCTGAGCCCCAGCCGCCCA... | benign | 328,341 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 50064175, gene MLC1 (modulator of VRAC current 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1'] | TGAGCCCCAGCCACCCACCCTGAGCCCCTGGGCCCCAGCCGTCCACCCTAAGCCCCAGCCATCCACCCTGAGCCCCAGCCGTCCACCCTGAGCCCCAGCCGCCCACCCTGAGCCCCAACCGCCCACCCTGAGCCCAAGCCACCCACCTTGAGCCCCAGCCGTCCATCCTGAGCCCCAGCCGCCCACCCTGAGCCCCAGCCGCCCACCCTGAGCCCCTGGGACCAGCAGTTCTGGGATCTGGGGAGAACACCTCATGCGTCTGACTCTGGGCCTTGCTGGTCACAACAGAAACCCAGGCGGGTCTCATTTCAGGCCCAGGG... | TGAGCCCCAGCCACCCACCCTGAGCCCCTGGGCCCCAGCCGTCCACCCTAAGCCCCAGCCATCCACCCTGAGCCCCAGCCGTCCACCCTGAGCCCCAGCCGCCCACCCTGAGCCCCAACCGCCCACCCTGAGCCCAAGCCACCCACCTTGAGCCCCAGCCGTCCATCCTGAGCCCCAGCCGCCCACCCTGAGCCCCAGCCGCCCACCCTGAGCCCCTGGGACCAGCAGTTCTGGGATCTGGGGAGAACACCTCATGCGTCTGACTCTGGGCCTTGCTGGTCACAACAGAAACCCAGGCGGGTCTCATTTCAGGCCCAGGG... | pathogenic | 328,351 |
A genetic alteration at chromosome 22, position 50068477, in gene MLC1 (modulator of VRAC current 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1'] | ACAGGCAGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTGCTAAAAGTACAAAAATTAGCCGGGTGTGTTGGCATATGCCTGTAATCCCAGATGCTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTATCTTAAAAAAAAAAAAATGGCAAGGTACAGAATAGTGATTCTAGTATACAAGCTATTTTGTAAGAAAGAAAAAAAAATTATCATCTGGTTGCC... | ACAGGCAGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTGCTAAAAGTACAAAAATTAGCCGGGTGTGTTGGCATATGCCTGTAATCCCAGATGCTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTATCTTAAAAAAAAAAAAATGGCAAGGTACAGAATAGTGATTCTAGTATACAAGCTATTTTGTAAGAAAGAAAAAAAAATTATCATCTGGTTGCC... | pathogenic | 328,365 |
A genetic variant on chromosome 22, position 50070543, affects the gene MLC1 (modulator of VRAC current 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1'] | ATCCAGAGGCTGTGAACAGCAGCGGAGACGTGAGGCTGCTTATGGCAATCAGGACCTCCACCTGGAAAAAAAGCGCGGGTTGCAGGACCACGGCCGGAGCCTGGGAGCCCAGGACAGCGGGCGTGGCCAGGGCTGGGGGGGCGGGCATGGCCGGGCACTCATGGGCATAGTCCCAAGCTGGTTCCCTGCATGACTCCTGCTGAAACCTCTGCCTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAAGTCTCGCTGTGTCGCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACCTCCGC... | ATCCAGAGGCTGTGAACAGCAGCGGAGACGTGAGGCTGCTTATGGCAATCAGGACCTCCACCTGGAAAAAAAGCGCGGGTTGCAGGACCACGGCCGGAGCCTGGGAGCCCAGGACAGCGGGCGTGGCCAGGGCTGGGGGGGCGGGCATGGCCGGGCACTCATGGGCATAGTCCCAAGCTGGTTCCCTGCATGACTCCTGCTGAAACCTCTGCCTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAAGTCTCGCTGTGTCGCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACCTCCGC... | pathogenic | 328,377 |
Does the genetic variant at chromosome 22, position 50070544, impacting gene MLC1 (modulator of VRAC current 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1'] | TCCAGAGGCTGTGAACAGCAGCGGAGACGTGAGGCTGCTTATGGCAATCAGGACCTCCACCTGGAAAAAAAGCGCGGGTTGCAGGACCACGGCCGGAGCCTGGGAGCCCAGGACAGCGGGCGTGGCCAGGGCTGGGGGGGCGGGCATGGCCGGGCACTCATGGGCATAGTCCCAAGCTGGTTCCCTGCATGACTCCTGCTGAAACCTCTGCCTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAAGTCTCGCTGTGTCGCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACCTCCGCC... | TCCAGAGGCTGTGAACAGCAGCGGAGACGTGAGGCTGCTTATGGCAATCAGGACCTCCACCTGGAAAAAAAGCGCGGGTTGCAGGACCACGGCCGGAGCCTGGGAGCCCAGGACAGCGGGCGTGGCCAGGGCTGGGGGGGCGGGCATGGCCGGGCACTCATGGGCATAGTCCCAAGCTGGTTCCCTGCATGACTCCTGCTGAAACCTCTGCCTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAAGTCTCGCTGTGTCGCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACCTCCGCC... | pathogenic | 328,378 |
Regarding the variant at chromosome 22 and position 50070561, affecting gene MLC1 (modulator of VRAC current 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1'] | GCAGCGGAGACGTGAGGCTGCTTATGGCAATCAGGACCTCCACCTGGAAAAAAAGCGCGGGTTGCAGGACCACGGCCGGAGCCTGGGAGCCCAGGACAGCGGGCGTGGCCAGGGCTGGGGGGGCGGGCATGGCCGGGCACTCATGGGCATAGTCCCAAGCTGGTTCCCTGCATGACTCCTGCTGAAACCTCTGCCTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAAGTCTCGCTGTGTCGCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAGTGAT... | GCAGCGGAGACGTGAGGCTGCTTATGGCAATCAGGACCTCCACCTGGAAAAAAAGCGCGGGTTGCAGGACCACGGCCGGAGCCTGGGAGCCCAGGACAGCGGGCGTGGCCAGGGCTGGGGGGGCGGGCATGGCCGGGCACTCATGGGCATAGTCCCAAGCTGGTTCCCTGCATGACTCCTGCTGAAACCTCTGCCTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAAGTCTCGCTGTGTCGCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAGTGAT... | pathogenic | 328,379 |
Is the chromosome 22, position 50074290 variant in MLC1 (modulator of VRAC current 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1'] | CAGCCATAGGGGCTGGGGCAGCTCAATCAAGGGCCCTGCCCTGGAAGGGTCCAGGCCTGCAGCCCAGCCCCCAACTCCAGCCCCGAGCACCTGCCTCCAGCCCATGGTGCAGGGCCTGGGCCCCTCTGCCGCACCCAGGCCAGACTCAGGCAGGTGGAGCTGGGTCCCTCACCACGCATGCCTCAGCGCTCTCCTCTCCTCCTGGGGTCTCCTGCCCTGAAGAGAGGGTTGGGAGTGTGGGTGGATTTAGGGGCGCCCAGGGGGCAGCACCTGATGGGCAGGGGGTGCTCTCCGGGAAGATGGAGAGAGCAGAGCCACCC... | CAGCCATAGGGGCTGGGGCAGCTCAATCAAGGGCCCTGCCCTGGAAGGGTCCAGGCCTGCAGCCCAGCCCCCAACTCCAGCCCCGAGCACCTGCCTCCAGCCCATGGTGCAGGGCCTGGGCCCCTCTGCCGCACCCAGGCCAGACTCAGGCAGGTGGAGCTGGGTCCCTCACCACGCATGCCTCAGCGCTCTCCTCTCCTCCTGGGGTCTCCTGCCCTGAAGAGAGGGTTGGGAGTGTGGGTGGATTTAGGGGCGCCCAGGGGGCAGCACCTGATGGGCAGGGGGTGCTCTCCGGGAAGATGGAGAGAGCAGAGCCACCC... | pathogenic | 328,385 |
Gene MLC1 (modulator of VRAC current 1) variant at chromosome 22, position 50076840—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts', 'Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1'] | ACACTGGACGTCACCACCCCTTTCCGTGGCAATGATCCAACCACCTGGACGTTAGCACCCCTTTTCTAGAAATTTCTGCATAATCTGCCCCTTAATTAGCATATACTTAAAAGTGGGTATAAATAGGAGGCAGAGCTGTCTCTGAGCTGCTGCTCGAGGCACCTGCCGGTTGGAGAGCCCTGCTATACTGCCACTGCAAACAAAGCTGCTGTCTGTCACCTCCAGCTCGCCCTTGAATTCTTTCCTGGACAAAGCCAAGAACCCTGCTGGCCTAAGCCCTGGTTGTGGACTCATCTGCCCGGCACCATCAGGGCCGCAAC... | ACACTGGACGTCACCACCCCTTTCCGTGGCAATGATCCAACCACCTGGACGTTAGCACCCCTTTTCTAGAAATTTCTGCATAATCTGCCCCTTAATTAGCATATACTTAAAAGTGGGTATAAATAGGAGGCAGAGCTGTCTCTGAGCTGCTGCTCGAGGCACCTGCCGGTTGGAGAGCCCTGCTATACTGCCACTGCAAACAAAGCTGCTGTCTGTCACCTCCAGCTCGCCCTTGAATTCTTTCCTGGACAAAGCCAAGAACCCTGCTGGCCTAAGCCCTGGTTGTGGACTCATCTGCCCGGCACCATCAGGGCCGCAAC... | pathogenic | 328,391 |
Variant at chromosome 22, position 50077470, gene MLC1 (modulator of VRAC current 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1'] | GAATTCCCAGCCAGGCACGGCGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGACGGATCGTGAGGTCAGGAGTTTGAGTACAGCCTGGCCAACATGGTAAACCCCGTCTCTACTAAAAATAACAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTCAACTCAGGAGGCAGAGGTTGCAGTGAACCAAGATCACACCACTGCACTCTAGCCTGGGCAACAGCAGGACTCCATCTCAAAAAAAAAGGAAAAAAAAAAAAGAAGCAGAACG... | GAATTCCCAGCCAGGCACGGCGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGACGGATCGTGAGGTCAGGAGTTTGAGTACAGCCTGGCCAACATGGTAAACCCCGTCTCTACTAAAAATAACAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTCAACTCAGGAGGCAGAGGTTGCAGTGAACCAAGATCACACCACTGCACTCTAGCCTGGGCAACAGCAGGACTCCATCTCAAAAAAAAAGGAAAAAAAAAAAAGAAGCAGAACG... | pathogenic | 328,404 |
Benign or pathogenic: chromosome 22, position 50080016, gene MLC1 (modulator of VRAC current 1) variant? Disease(s) if pathogenic? | pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1'] | AAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCG... | AAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCG... | pathogenic | 328,410 |
Is the genetic change at chromosome 22, position 50084724, within gene MLC1 (modulator of VRAC current 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1'] | TGTTTTGAGACGAAGTTTCACTCTCATTGCCCAGGCTGGAGTGCAGTGGCACAATCTGGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGTCCATGTTGGTCAGACTGGTCTCAAACACCTGACCTCAGGTGATCCACCCACCTCCACCCCTCAAAGTGCTGGCATGACAGCCATGAGCCACTGTGCCCGGCCCATATGAAGAGGTTTGAATGAGGTACAGGTG... | TGTTTTGAGACGAAGTTTCACTCTCATTGCCCAGGCTGGAGTGCAGTGGCACAATCTGGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGTCCATGTTGGTCAGACTGGTCTCAAACACCTGACCTCAGGTGATCCACCCACCTCCACCCCTCAAAGTGCTGGCATGACAGCCATGAGCCACTGTGCCCGGCCCATATGAAGAGGTTTGAATGAGGTACAGGTG... | pathogenic | 328,429 |
The mutation in gene MLC1 (modulator of VRAC current 1) at chromosome 22, position 50084766—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts', 'Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1'] | GCAGTGGCACAATCTGGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGTCCATGTTGGTCAGACTGGTCTCAAACACCTGACCTCAGGTGATCCACCCACCTCCACCCCTCAAAGTGCTGGCATGACAGCCATGAGCCACTGTGCCCGGCCCATATGAAGAGGTTTGAATGAGGTACAGGTGACAGAAACCTGCACATCTCAGAACAAAGAAACCAGAGCACGT... | GCAGTGGCACAATCTGGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGTCCATGTTGGTCAGACTGGTCTCAAACACCTGACCTCAGGTGATCCACCCACCTCCACCCCTCAAAGTGCTGGCATGACAGCCATGAGCCACTGTGCCCGGCCCATATGAAGAGGTTTGAATGAGGTACAGGTGACAGAAACCTGCACATCTCAGAACAAAGAAACCAGAGCACGT... | pathogenic | 328,431 |
Clinical significance of chromosome 22, position 50084767, gene MLC1 (modulator of VRAC current 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts', 'Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1'] | CAGTGGCACAATCTGGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGTCCATGTTGGTCAGACTGGTCTCAAACACCTGACCTCAGGTGATCCACCCACCTCCACCCCTCAAAGTGCTGGCATGACAGCCATGAGCCACTGTGCCCGGCCCATATGAAGAGGTTTGAATGAGGTACAGGTGACAGAAACCTGCACATCTCAGAACAAAGAAACCAGAGCACGTG... | CAGTGGCACAATCTGGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGTCCATGTTGGTCAGACTGGTCTCAAACACCTGACCTCAGGTGATCCACCCACCTCCACCCCTCAAAGTGCTGGCATGACAGCCATGAGCCACTGTGCCCGGCCCATATGAAGAGGTTTGAATGAGGTACAGGTGACAGAAACCTGCACATCTCAGAACAAAGAAACCAGAGCACGTG... | pathogenic | 328,432 |
Gene TUBGCP6 (tubulin gamma complex component 6) variant at chromosome 22, position 50218403—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic | ACCTGGACCCTTCTGGAAATGAGGGAAGTGCTAACAGCAGTGCCCATCCCACAAGCATTAAACTCGGGAGGTGGAGACTCTCCAGCAGAAAGCTGGGCAGCAGAGTGGTCCTGCCCCTCGGCCCACAAAGGGCCTTGGCCGAGCATGGGCATGCCTGGTGTGTGCCCACTGGGGTCCATCCCTGCCAGTGGGGTTCCAGGGACCTCGGGGACCGGGCTGCTTGGGCCCTTGGACTCTAGGTGAGCCGTGAGAGCGGGCTGGGGCAGGCGGAGCAGCTGCCTGCAGGGCAGGGACACGGTCAGGGGCTACCTCCCAGACAC... | ACCTGGACCCTTCTGGAAATGAGGGAAGTGCTAACAGCAGTGCCCATCCCACAAGCATTAAACTCGGGAGGTGGAGACTCTCCAGCAGAAAGCTGGGCAGCAGAGTGGTCCTGCCCCTCGGCCCACAAAGGGCCTTGGCCGAGCATGGGCATGCCTGGTGTGTGCCCACTGGGGTCCATCCCTGCCAGTGGGGTTCCAGGGACCTCGGGGACCGGGCTGCTTGGGCCCTTGGACTCTAGGTGAGCCGTGAGAGCGGGCTGGGGCAGGCGGAGCAGCTGCCTGCAGGGCAGGGACACGGTCAGGGGCTACCTCCCAGACAC... | pathogenic | 328,458 |
Evaluate the clinical significance of the mutation at chromosome 22, position 50219957 in gene TUBGCP6 (tubulin gamma complex component 6): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Microcephaly_and_chorioretinopathy_1'] | GGGCCTCACCTTTGAAGAGAAAGTGGGAGTAGTACTTGAAGGTGTTGTAGGACTGCTGCATGAGTGCAAAGTTGGGGTGCTCTGCACCCCGCGGGCCCCCAGGGGGCCCCCAGGCCTGGGAGATGAGCTGGCTGCGGAACTTGAGCACGAGGCTGAAGATGCTGTGGATGACGTTCATGACGGGCGCCGCCTTCTCCGTGAGCAGGCCCCTGGGGGGAAGCAGTGCTGCTGGGTGGGCTGAGCCGTGACCACAGGGACGCAGCCGCTGCCCAGGCCTCACCTGAAGACGGCCTTGTGCAGGTACTCTGCGTGCGCACGCT... | GGGCCTCACCTTTGAAGAGAAAGTGGGAGTAGTACTTGAAGGTGTTGTAGGACTGCTGCATGAGTGCAAAGTTGGGGTGCTCTGCACCCCGCGGGCCCCCAGGGGGCCCCCAGGCCTGGGAGATGAGCTGGCTGCGGAACTTGAGCACGAGGCTGAAGATGCTGTGGATGACGTTCATGACGGGCGCCGCCTTCTCCGTGAGCAGGCCCCTGGGGGGAAGCAGTGCTGCTGGGTGGGCTGAGCCGTGACCACAGGGACGCAGCCGCTGCCCAGGCCTCACCTGAAGACGGCCTTGTGCAGGTACTCTGCGTGCGCACGCT... | pathogenic | 328,483 |
Clinical classification of chromosome 22, position 50220243, gene TUBGCP6 (tubulin gamma complex component 6): benign or pathogenic? Disease(s) if pathogenic? | benign | ACGGCCTTGTGCAGGTACTCTGCGTGCGCACGCTGGATCTCCTCCAGGTCGCCCACGGTGGCCAACCTGGCCCTGAACTCGCACCAGGTGACGTGCAGGATCTGGTTGGCGATGTAGCCCTGGATGACCTTCACGAAATGCTGCATCTCGTGCTTGAACAGCTGCAGCTGACGGAACTGCACAGAGCCGGCCATGTGGCTCAGCAGGGCTGGCGGAGGGCAGAAGGCAGAGGGCAGAGGTGAGCGCAGCCTCCAGCCAGGGGTGCGGGGCGCCGGGCTCCAGCGGGGCCTCACCTGTGCGCTTGAGGTGGAAGCAGACGT... | ACGGCCTTGTGCAGGTACTCTGCGTGCGCACGCTGGATCTCCTCCAGGTCGCCCACGGTGGCCAACCTGGCCCTGAACTCGCACCAGGTGACGTGCAGGATCTGGTTGGCGATGTAGCCCTGGATGACCTTCACGAAATGCTGCATCTCGTGCTTGAACAGCTGCAGCTGACGGAACTGCACAGAGCCGGCCATGTGGCTCAGCAGGGCTGGCGGAGGGCAGAAGGCAGAGGGCAGAGGTGAGCGCAGCCTCCAGCCAGGGGTGCGGGGCGCCGGGCTCCAGCGGGGCCTCACCTGTGCGCTTGAGGTGGAAGCAGACGT... | benign | 328,489 |
Considering the variant on chromosome 22, location 50220465, involving gene TUBGCP6 (tubulin gamma complex component 6), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Microcephaly_and_chorioretinopathy_1'] | AAGGCAGAGGGCAGAGGTGAGCGCAGCCTCCAGCCAGGGGTGCGGGGCGCCGGGCTCCAGCGGGGCCTCACCTGTGCGCTTGAGGTGGAAGCAGACGTCCTTGAGCGCCCACATCATGAGCTTCAGCTGCAGCAGGAAGGAGAAGACGCCGCTGTACTTGCTCACGCAGCCCTCGGTGATGACAATGTTGAGAGGCCAGTCCACCTGCCAGGAGGCGTGGCTCAGCAGGCATCCCACAGGCAGGCAGGCCCCTGTCCCATCCCCCGCGGCCAGGGCTGCTGCTGACCTTGTACCTGAGCTCCAGGCAGCTCAGCACATCC... | AAGGCAGAGGGCAGAGGTGAGCGCAGCCTCCAGCCAGGGGTGCGGGGCGCCGGGCTCCAGCGGGGCCTCACCTGTGCGCTTGAGGTGGAAGCAGACGTCCTTGAGCGCCCACATCATGAGCTTCAGCTGCAGCAGGAAGGAGAAGACGCCGCTGTACTTGCTCACGCAGCCCTCGGTGATGACAATGTTGAGAGGCCAGTCCACCTGCCAGGAGGCGTGGCTCAGCAGGCATCCCACAGGCAGGCAGGCCCCTGTCCCATCCCCCGCGGCCAGGGCTGCTGCTGACCTTGTACCTGAGCTCCAGGCAGCTCAGCACATCC... | pathogenic | 328,494 |
The chromosome 22, position 50224176 genetic variant in gene TUBGCP6 (tubulin gamma complex component 6): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Microcephaly_and_chorioretinopathy_1'] | TGGCCAAGCCGGAGTCAAGCACAGCCCTACCCCACACAAAGCCACAGCCCCTACCGCCCATGGCAGCCATGTGCACTGAACCAGACAAGGCTTGTGCTGGGCTCCAGTGGGACGCTGGGCCTGCAAAAAGTACTCCAAAACCACGAGCTCCTCACCACCTGTATCTGTGCAATTTGGTGGCACACGGGGAGAGAGAGTGCTCTGCCGCAAACGCGAAAGCCACCAGCCCTCTCCTAGAAGAGCATGTAGGTTTGTGTGCAGTCTCAGGGGGTTTCCAGACCCCCAAAGCCCAGGGGAAGAGCTGCCATCTGAAGCCGCAG... | TGGCCAAGCCGGAGTCAAGCACAGCCCTACCCCACACAAAGCCACAGCCCCTACCGCCCATGGCAGCCATGTGCACTGAACCAGACAAGGCTTGTGCTGGGCTCCAGTGGGACGCTGGGCCTGCAAAAAGTACTCCAAAACCACGAGCTCCTCACCACCTGTATCTGTGCAATTTGGTGGCACACGGGGAGAGAGAGTGCTCTGCCGCAAACGCGAAAGCCACCAGCCCTCTCCTAGAAGAGCATGTAGGTTTGTGTGCAGTCTCAGGGGGTTTCCAGACCCCCAAAGCCCAGGGGAAGAGCTGCCATCTGAAGCCGCAG... | pathogenic | 328,538 |
Variant in TUBGCP6 (tubulin gamma complex component 6), chromosome 22, position 50224188—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic | AGTCAAGCACAGCCCTACCCCACACAAAGCCACAGCCCCTACCGCCCATGGCAGCCATGTGCACTGAACCAGACAAGGCTTGTGCTGGGCTCCAGTGGGACGCTGGGCCTGCAAAAAGTACTCCAAAACCACGAGCTCCTCACCACCTGTATCTGTGCAATTTGGTGGCACACGGGGAGAGAGAGTGCTCTGCCGCAAACGCGAAAGCCACCAGCCCTCTCCTAGAAGAGCATGTAGGTTTGTGTGCAGTCTCAGGGGGTTTCCAGACCCCCAAAGCCCAGGGGAAGAGCTGCCATCTGAAGCCGCAGACATACCTGAAT... | AGTCAAGCACAGCCCTACCCCACACAAAGCCACAGCCCCTACCGCCCATGGCAGCCATGTGCACTGAACCAGACAAGGCTTGTGCTGGGCTCCAGTGGGACGCTGGGCCTGCAAAAAGTACTCCAAAACCACGAGCTCCTCACCACCTGTATCTGTGCAATTTGGTGGCACACGGGGAGAGAGAGTGCTCTGCCGCAAACGCGAAAGCCACCAGCCCTCTCCTAGAAGAGCATGTAGGTTTGTGTGCAGTCTCAGGGGGTTTCCAGACCCCCAAAGCCCAGGGGAAGAGCTGCCATCTGAAGCCGCAGACATACCTGAAT... | pathogenic | 328,539 |
Variant at chromosome position 50224267, chromosome 22, gene TUBGCP6 (tubulin gamma complex component 6): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TTGTGCTGGGCTCCAGTGGGACGCTGGGCCTGCAAAAAGTACTCCAAAACCACGAGCTCCTCACCACCTGTATCTGTGCAATTTGGTGGCACACGGGGAGAGAGAGTGCTCTGCCGCAAACGCGAAAGCCACCAGCCCTCTCCTAGAAGAGCATGTAGGTTTGTGTGCAGTCTCAGGGGGTTTCCAGACCCCCAAAGCCCAGGGGAAGAGCTGCCATCTGAAGCCGCAGACATACCTGAATGTGTTTCTCATCTTCTAAGAGAAAACGAAGCCGTGCACTCTCCAGTCGGTGCCTCTGGATTCTCCACAGTGCCTTCTGC... | TTGTGCTGGGCTCCAGTGGGACGCTGGGCCTGCAAAAAGTACTCCAAAACCACGAGCTCCTCACCACCTGTATCTGTGCAATTTGGTGGCACACGGGGAGAGAGAGTGCTCTGCCGCAAACGCGAAAGCCACCAGCCCTCTCCTAGAAGAGCATGTAGGTTTGTGTGCAGTCTCAGGGGGTTTCCAGACCCCCAAAGCCCAGGGGAAGAGCTGCCATCTGAAGCCGCAGACATACCTGAATGTGTTTCTCATCTTCTAAGAGAAAACGAAGCCGTGCACTCTCCAGTCGGTGCCTCTGGATTCTCCACAGTGCCTTCTGC... | benign | 328,542 |
Located at chromosome 22 position 50226363, the variant affecting gene TUBGCP6 (tubulin gamma complex component 6)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Microcephaly_and_chorioretinopathy_1'] | GGACAGGTCCTACCCACCTCCTGGTCCTTCACAAATTGTTCTTTCAGCCTCTGAAACTGCTCACGCTTCCGGGCATCCAAGGCCATCCGTTCTGACATCTGCCGGTCTACATTGGGACAGTAAGGGGCGCACTGTCACAAGGAGGCCCCAGCAAGGCCCCCCGGAACTGCAGAAGGGAGGACTTGGGGCCACTCACCACTCAGTGCACTCAGGACCCTGGATGCTGCTTCCCGGGCATGAGCGATTAATTCTTGTTTTGCAATTTCCATACGTAATTCCTGAGAAAGACAACTGGTAATCAAAGCATCCTGGCCGGGCGC... | GGACAGGTCCTACCCACCTCCTGGTCCTTCACAAATTGTTCTTTCAGCCTCTGAAACTGCTCACGCTTCCGGGCATCCAAGGCCATCCGTTCTGACATCTGCCGGTCTACATTGGGACAGTAAGGGGCGCACTGTCACAAGGAGGCCCCAGCAAGGCCCCCCGGAACTGCAGAAGGGAGGACTTGGGGCCACTCACCACTCAGTGCACTCAGGACCCTGGATGCTGCTTCCCGGGCATGAGCGATTAATTCTTGTTTTGCAATTTCCATACGTAATTCCTGAGAAAGACAACTGGTAATCAAAGCATCCTGGCCGGGCGC... | pathogenic | 328,551 |
For chromosome 22, position 50227903, gene TUBGCP6 (tubulin gamma complex component 6): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic | GCACAGTCCTTCTCAATCTCCTTCAACTCCTCAAGGGAGAAAATCACCGAGATCCGGGGGACAGGGACGTCGGACCAACAGAGGTAATGCTGCCAAAGGGGATGCAAGCACAGCCACCAGCACTCAGCCCCAGCCTCATACTCAGCCCCAGGGAAGACCGGCCCCTCTCTTCCCCACACATGAGCCCCTCCTCACCCGGGGGCAGCAGAGCTTCAGCAGGTTAATGGTCTTTCCGCAGACGTATATGTCGTGGGCAATGTGCTTCAGAAACACGGGAACACAGTCCTCCACCTCTTTGGAGATGAGCACGTAGCCATGTG... | GCACAGTCCTTCTCAATCTCCTTCAACTCCTCAAGGGAGAAAATCACCGAGATCCGGGGGACAGGGACGTCGGACCAACAGAGGTAATGCTGCCAAAGGGGATGCAAGCACAGCCACCAGCACTCAGCCCCAGCCTCATACTCAGCCCCAGGGAAGACCGGCCCCTCTCTTCCCCACACATGAGCCCCTCCTCACCCGGGGGCAGCAGAGCTTCAGCAGGTTAATGGTCTTTCCGCAGACGTATATGTCGTGGGCAATGTGCTTCAGAAACACGGGAACACAGTCCTCCACCTCTTTGGAGATGAGCACGTAGCCATGTG... | pathogenic | 328,561 |
A mutation at chromosome position 50447308 on chromosome 22 in gene SBF1 (SET binding factor 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CTGACATTTTTCCGTTTGGGGGATGGGGGGAACCACTTCGCCTAACGCTCAAACACATCAACCCCAGGACTTCCTTTTGTGCCAGCTCCCCCTCCCAGAAGCCTGGGCCCCACCTTGTCCTCAGTGGCTGAGTGGGAGGGGCAGGTGGAGACCAGACCCCCACCCCGCCCCAGCGAGCTTGTCTTTCCACCACGGTTGGGGGTGGAGGGAACCCGCTCAGCTCCCCAGAGGCCGAGTCTCTGCCCCAGCTACACATTGAGTGCCTTGTTCTCGCCGCCTACCCTGTGCCTGGCATTTGTCCTCTCCCCCCACAGACGTGG... | CTGACATTTTTCCGTTTGGGGGATGGGGGGAACCACTTCGCCTAACGCTCAAACACATCAACCCCAGGACTTCCTTTTGTGCCAGCTCCCCCTCCCAGAAGCCTGGGCCCCACCTTGTCCTCAGTGGCTGAGTGGGAGGGGCAGGTGGAGACCAGACCCCCACCCCGCCCCAGCGAGCTTGTCTTTCCACCACGGTTGGGGGTGGAGGGAACCCGCTCAGCTCCCCAGAGGCCGAGTCTCTGCCCCAGCTACACATTGAGTGCCTTGTTCTCGCCGCCTACCCTGTGCCTGGCATTTGTCCTCTCCCCCCACAGACGTGG... | benign | 328,608 |
Does the variant on chromosome 22 at location 50447464 affecting gene SBF1 (SET binding factor 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CCCCCACCCCGCCCCAGCGAGCTTGTCTTTCCACCACGGTTGGGGGTGGAGGGAACCCGCTCAGCTCCCCAGAGGCCGAGTCTCTGCCCCAGCTACACATTGAGTGCCTTGTTCTCGCCGCCTACCCTGTGCCTGGCATTTGTCCTCTCCCCCCACAGACGTGGAACAGGGAGGGCAGGGTCCTTTCTCCCCTTACTCTGACCTGTGGGTTTTCCAGGTGCCAGGAACTTCGGTCAGGCGCCATCTGTCCGGCCTGAGGGAAGACCTGGCTGGTTTCAGTGGCTCAAGTGAGCCCACCCTCACATCTCGCCCAGGTGTCC... | CCCCCACCCCGCCCCAGCGAGCTTGTCTTTCCACCACGGTTGGGGGTGGAGGGAACCCGCTCAGCTCCCCAGAGGCCGAGTCTCTGCCCCAGCTACACATTGAGTGCCTTGTTCTCGCCGCCTACCCTGTGCCTGGCATTTGTCCTCTCCCCCCACAGACGTGGAACAGGGAGGGCAGGGTCCTTTCTCCCCTTACTCTGACCTGTGGGTTTTCCAGGTGCCAGGAACTTCGGTCAGGCGCCATCTGTCCGGCCTGAGGGAAGACCTGGCTGGTTTCAGTGGCTCAAGTGAGCCCACCCTCACATCTCGCCCAGGTGTCC... | benign | 328,613 |
Variant chromosome 22, position 50459237, gene SBF1 (SET binding factor 1): benign or pathogenic? Disease(s)? | benign | GAGGGTTCCACCAAGCCCCCAGGGAGCCTGGAGACAGCAGGGGTCAGCCCCAAGTCCCTGATCGCAGGAAAGTGGGAAGAGCCATCCTGGTGTGGGCCTCTCTGCCAGGGCAGGGCAGGCCGCAGAGCACTCCGTGGCAGCAGAAGGGCTATGCGGTGGGGATCCCGGGCTCTCCTCTAACACTTCCTTTCTTCCCACTCAAACCAGCTTAGAGCAAGTCTGTCTCTGAGTCCCTCCCTCCACATCCTGGCCCTTTGTCCTCCACTCAGGGGGCCAGGGCTTGTGATGGGCACAGCTCAGAACGCTCCACACATGAGCAT... | GAGGGTTCCACCAAGCCCCCAGGGAGCCTGGAGACAGCAGGGGTCAGCCCCAAGTCCCTGATCGCAGGAAAGTGGGAAGAGCCATCCTGGTGTGGGCCTCTCTGCCAGGGCAGGGCAGGCCGCAGAGCACTCCGTGGCAGCAGAAGGGCTATGCGGTGGGGATCCCGGGCTCTCCTCTAACACTTCCTTTCTTCCCACTCAAACCAGCTTAGAGCAAGTCTGTCTCTGAGTCCCTCCCTCCACATCCTGGCCCTTTGTCCTCCACTCAGGGGGCCAGGGCTTGTGATGGGCACAGCTCAGAACGCTCCACACATGAGCAT... | benign | 328,662 |
For chromosome 22, position 50462186, gene SBF1 (SET binding factor 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CTGGGCTCCAGCTCCTCCGACACTGCACAGGCCGGGCACACGTGGTCATCACGGGGCCACTCCGCCTGCCCTGATCCTCCCTGGCCAATGTCAGCATCCAGAGACCACCCAGGACTCCACCCCCACCCCTCCACCTGAGATCTCGTCCTCCTGGTCCTCAGGGGGCGGCTGGCCCCGGTGCTCCCAGCTGGGGGGGTTGTACTTCTTGCGAGTGACATGCTGCCGCCCGATGGTCTTCTTGGCGTTCTTGACCAGGTTCCGGGACAGGGTTCTGAGGCCCACGAGAGTCAGCAAAGGTGAGAGGAGGAGGGACAAAGATG... | CTGGGCTCCAGCTCCTCCGACACTGCACAGGCCGGGCACACGTGGTCATCACGGGGCCACTCCGCCTGCCCTGATCCTCCCTGGCCAATGTCAGCATCCAGAGACCACCCAGGACTCCACCCCCACCCCTCCACCTGAGATCTCGTCCTCCTGGTCCTCAGGGGGCGGCTGGCCCCGGTGCTCCCAGCTGGGGGGGTTGTACTTCTTGCGAGTGACATGCTGCCGCCCGATGGTCTTCTTGGCGTTCTTGACCAGGTTCCGGGACAGGGTTCTGAGGCCCACGAGAGTCAGCAAAGGTGAGAGGAGGAGGGACAAAGATG... | benign | 328,701 |
Variant at chromosome 22, position 50462445, gene SBF1 (SET binding factor 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Charcot-Marie-Tooth_disease_type_4'] | CGGGACAGGGTTCTGAGGCCCACGAGAGTCAGCAAAGGTGAGAGGAGGAGGGACAAAGATGAGCACAGGGGCCTAGGAGGGTTGGAGCGGGAACACGGCTGAGGCCCAGCTGCCCTGCCTGGGACCCAGATCCATACCTGAGGGAAGGACCCTTGTCCTTGGTGACTCGCGGTGGCCGGCCAGGTGTGTGGGCAGAGCCCAAGGTGAACGCAAAGGTGGCCCTGATGTCCGGCGGGTACCGCAGCTTATGCAGCTGCTTACGGAAGAGCTCGGCGCTGTCAGACCCCACCTCCTCGTCAAAGGCCATTTTCAGCAGCTGT... | CGGGACAGGGTTCTGAGGCCCACGAGAGTCAGCAAAGGTGAGAGGAGGAGGGACAAAGATGAGCACAGGGGCCTAGGAGGGTTGGAGCGGGAACACGGCTGAGGCCCAGCTGCCCTGCCTGGGACCCAGATCCATACCTGAGGGAAGGACCCTTGTCCTTGGTGACTCGCGGTGGCCGGCCAGGTGTGTGGGCAGAGCCCAAGGTGAACGCAAAGGTGGCCCTGATGTCCGGCGGGTACCGCAGCTTATGCAGCTGCTTACGGAAGAGCTCGGCGCTGTCAGACCCCACCTCCTCGTCAAAGGCCATTTTCAGCAGCTGT... | pathogenic | 328,706 |
The mutation impacting SBF1 (SET binding factor 1) on chromosome 22 at position 50464920: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGCAGAAGGCTGTGACCAGAGGCAGCAGAGCCGCCGCAATGCCATGCTCGTCCAGAGAAGTGCAGTCCTGCAGGTAGAGCGAGAGACCGTCAGGACCTCTCCCCTCCCAGGCAGCACTCACCTCCCACCATGCCCCCACCACCCCATAACCACCACAGACCAGCACCTGACACCCTTGGCTCCAGCTCCCCAAGGCTGCCTCAGAGGCTCAATATCAGGAGACCCCAGGCCCCAGCACCTGCCCCCAACAATGGTTCTCTCCACCCTGTTCCCTGCAGACCGAGGACCCCTGCCCACTGGCACAGGAGTCTCTTGCACCG... | GGCAGAAGGCTGTGACCAGAGGCAGCAGAGCCGCCGCAATGCCATGCTCGTCCAGAGAAGTGCAGTCCTGCAGGTAGAGCGAGAGACCGTCAGGACCTCTCCCCTCCCAGGCAGCACTCACCTCCCACCATGCCCCCACCACCCCATAACCACCACAGACCAGCACCTGACACCCTTGGCTCCAGCTCCCCAAGGCTGCCTCAGAGGCTCAATATCAGGAGACCCCAGGCCCCAGCACCTGCCCCCAACAATGGTTCTCTCCACCCTGTTCCCTGCAGACCGAGGACCCCTGCCCACTGGCACAGGAGTCTCTTGCACCG... | benign | 328,735 |
Does the variant on chromosome 22 at location 50523655 affecting gene SCO2 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic | AAGGTAATTGGGTGGAAGGTACCTCCACTCAGGTACCCCTGGCTGGGTTTCCTGGGGCATGAGGTGGGGGGGTGGGAGTGGGCTTTGCACCCTGATCCCCCAGCGGCTCTAAGACAGTCCCTGTTTGCCCCCAGGTAGGCCTTACTCTGTGCCCCCCTGTGTGGAGGAGGCTCTGGGACAGAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCC... | AAGGTAATTGGGTGGAAGGTACCTCCACTCAGGTACCCCTGGCTGGGTTTCCTGGGGCATGAGGTGGGGGGGTGGGAGTGGGCTTTGCACCCTGATCCCCCAGCGGCTCTAAGACAGTCCCTGTTTGCCCCCAGGTAGGCCTTACTCTGTGCCCCCCTGTGTGGAGGAGGCTCTGGGACAGAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCC... | pathogenic | 328,792 |
Variant on chromosome 22, at position 50524009, affecting SCO2: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1', 'Myopia_6'] | TGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTA... | TGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTA... | pathogenic | 328,804 |
Gene SCO2 variant at chromosome 22, position 50524083—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1'] | TGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAG... | TGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAG... | pathogenic | 328,807 |
The mutation impacting SCO2 on chromosome 22 at position 50524181: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1'] | CGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCAC... | CGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCAC... | pathogenic | 328,813 |
Variant at chromosome 22, position 50524275, gene SCO2: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1'] | TCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGA... | TCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGA... | pathogenic | 328,816 |
Mutation at chromosome 22, position 50524365, within SCO2: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1'] | CCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCC... | CCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCC... | pathogenic | 328,818 |
Variant at chromosome 22, position 50524395, gene SCO2: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1', 'Myopia_6', 'Primary_dilated_cardiomyopathy'] | CTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTC... | CTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTC... | pathogenic | 328,819 |
The mutation impacting TYMP on chromosome 22 at position 50525589: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGG... | CTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGG... | benign | 328,822 |
Is the genetic mutation found on chromosome 22 at position 50525802, within the gene TYMP, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_1'] | AGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGA... | AGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGA... | pathogenic | 328,824 |
A genetic alteration at chromosome 22, position 50525872, in gene TYMP—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_1'] | TTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTC... | TTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTC... | pathogenic | 328,830 |
Regarding the variant at chromosome 22 and position 50525929, affecting gene TYMP: benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGA... | CATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGA... | benign | 328,831 |
Is chromosome 22, position 50526097, gene TYMP variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_1'] | GCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAG... | GCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAG... | pathogenic | 328,837 |
A mutation at chromosome position 50526251 on chromosome 22 in gene TYMP: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['TYMP-related_disorder'] | CCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACC... | CCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACC... | pathogenic | 328,845 |
Variant chromosome 22, position 50526378, gene TYMP: benign or pathogenic? Disease(s)? | pathogenic | CTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCC... | CTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCC... | pathogenic | 328,851 |
Is chromosome 22, position 50526478, gene TYMP variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTAT... | AACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTAT... | benign | 328,855 |
Evaluate the clinical significance of the mutation at chromosome 22, position 50526702 in gene TYMP (thymidine phosphorylase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_1'] | ACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACT... | ACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACT... | pathogenic | 328,862 |
The mutation impacting TYMP (thymidine phosphorylase) on chromosome 22 at position 50527200: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_1'] | GCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCAC... | GCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCAC... | pathogenic | 328,867 |
Chromosome 22, position 50529278, gene TYMP: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic | CGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGC... | CGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGC... | pathogenic | 328,893 |
Classify the chromosome 22 variant at position 50529689 affecting gene TYMP (thymidine phosphorylase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_1'] | AGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTT... | AGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTT... | pathogenic | 328,904 |
Evaluate if the mutation on chromosome 22 at position 50529698 in TYMP (thymidine phosphorylase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_1'] | TCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATC... | TCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATC... | pathogenic | 328,905 |
The mutation impacting ARSA (arylsulfatase A) on chromosome 22 at position 50625182: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Metachromatic_leukodystrophy'] | GGCCAACACTGAGGGAGCACCTGGCGTGTGACTGGCCACCTGGGCATGCACGTGGGCCTGACGTCAGTGTGCCATGCTGCACAGACACGGGCAGGTGCTCAGACAGTCCCTCCCTGCAGAGGAGGCCAACAATGGAGGCAGAGCGTTGCCGTTGAAGGGAACAGCCAGGCCACCCCCTAAGACTGGGGGGAAGGGGGTGTGGGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTA... | GGCCAACACTGAGGGAGCACCTGGCGTGTGACTGGCCACCTGGGCATGCACGTGGGCCTGACGTCAGTGTGCCATGCTGCACAGACACGGGCAGGTGCTCAGACAGTCCCTCCCTGCAGAGGAGGCCAACAATGGAGGCAGAGCGTTGCCGTTGAAGGGAACAGCCAGGCCACCCCCTAAGACTGGGGGGAAGGGGGTGTGGGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTA... | pathogenic | 328,960 |
Clinical classification of chromosome 22, position 50625182, gene ARSA (arylsulfatase A): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Metachromatic_leukodystrophy'] | GGCCAACACTGAGGGAGCACCTGGCGTGTGACTGGCCACCTGGGCATGCACGTGGGCCTGACGTCAGTGTGCCATGCTGCACAGACACGGGCAGGTGCTCAGACAGTCCCTCCCTGCAGAGGAGGCCAACAATGGAGGCAGAGCGTTGCCGTTGAAGGGAACAGCCAGGCCACCCCCTAAGACTGGGGGGAAGGGGGTGTGGGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTA... | GGCCAACACTGAGGGAGCACCTGGCGTGTGACTGGCCACCTGGGCATGCACGTGGGCCTGACGTCAGTGTGCCATGCTGCACAGACACGGGCAGGTGCTCAGACAGTCCCTCCCTGCAGAGGAGGCCAACAATGGAGGCAGAGCGTTGCCGTTGAAGGGAACAGCCAGGCCACCCCCTAAGACTGGGGGGAAGGGGGTGTGGGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTA... | pathogenic | 328,961 |
Does the variant on chromosome 22 at location 50625330 affecting gene ARSA (arylsulfatase A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Metachromatic_leukodystrophy'] | CCGTTGAAGGGAACAGCCAGGCCACCCCCTAAGACTGGGGGGAAGGGGGTGTGGGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATT... | CCGTTGAAGGGAACAGCCAGGCCACCCCCTAAGACTGGGGGGAAGGGGGTGTGGGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATT... | pathogenic | 328,965 |
Variant at chromosome 22, position 50625337, gene ARSA (arylsulfatase A): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Metachromatic_leukodystrophy'] | AGGGAACAGCCAGGCCACCCCCTAAGACTGGGGGGAAGGGGGTGTGGGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAA... | AGGGAACAGCCAGGCCACCCCCTAAGACTGGGGGGAAGGGGGTGTGGGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAA... | pathogenic | 328,966 |
Regarding the variant found on chromosome 22 at position 50625391 in gene ARSA (arylsulfatase A): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Metachromatic_leukodystrophy'] | CCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGG... | CCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGG... | pathogenic | 328,968 |
The genetic variant at chromosome 22, position 50625410, affecting gene ARSA (arylsulfatase A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Metachromatic_leukodystrophy'] | CACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC... | CACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACC... | pathogenic | 328,971 |
Determine whether the variant at chromosome 22, position 50625443, in gene ARSA (arylsulfatase A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Metachromatic_leukodystrophy'] | CCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAC... | CCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAC... | pathogenic | 328,973 |
The genetic variant at chromosome 22, position 50625652, affecting gene ARSA (arylsulfatase A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Metachromatic_leukodystrophy'] | AACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA... | AACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA... | pathogenic | 328,983 |
Is the genetic change at chromosome 22, position 50625934, within gene ARSA (arylsulfatase A) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Metachromatic_leukodystrophy'] | GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTG... | GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTG... | pathogenic | 328,993 |
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