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 |
|---|---|---|---|---|---|
Does the chromosome 4 mutation at position 88061983 within gene PKD2 (polycystin 2, transient receptor potential cation channel) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Polycystic_kidney_disease_2'] | GCTCAGCTGAACCAGGATAACCCCACTCTTCCCCCACATCAACAGGAAAGACATCCTGGTGCAGATGTCCATCTGATAATTCAGGGAACCTCGGGAGACAGGATGGAGAGGAGGGTGAGCTAGCTTCCTCTTCCCACACCTTCAAGAGCCTTTCTCAAGCACTTTCTATTTTTTGAAATCTCTTTAGAGGTCCCAGACTTTGATCTGTTTCAATTAAGGTATTGGCAGGCATTAGTTAACAGCCACTTGGAAGCAAAAATAGAACATTAGATCCCTGAGTTGGAAGAGAGAAGGTAGAAGGTGTTACTTGGACTGCAATT... | GCTCAGCTGAACCAGGATAACCCCACTCTTCCCCCACATCAACAGGAAAGACATCCTGGTGCAGATGTCCATCTGATAATTCAGGGAACCTCGGGAGACAGGATGGAGAGGAGGGTGAGCTAGCTTCCTCTTCCCACACCTTCAAGAGCCTTTCTCAAGCACTTTCTATTTTTTGAAATCTCTTTAGAGGTCCCAGACTTTGATCTGTTTCAATTAAGGTATTGGCAGGCATTAGTTAACAGCCACTTGGAAGCAAAAATAGAACATTAGATCCCTGAGTTGGAAGAGAGAAGGTAGAAGGTGTTACTTGGACTGCAATT... | pathogenic | 84,014 |
Clinical impact (benign or pathogenic) of the variant at chromosome 4, location 88065406, gene PKD2 (polycystin 2, transient receptor potential cation channel): what disease(s) if pathogenic? | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Inborn_genetic_diseases', 'PKD2-related_disorder', 'Polycystic_kidney_disease', 'Polycystic_kidney_disease_2'] | CCCATCTCTACTAAAAATACAAAATTAGCTGAGTGTGGCGACAGATGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGCACCTAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGTAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAGAGAATGGGCTAGCAAAGAAATGAAAAATGGTAACACTGGAAGTGAAAATCAAAACAGAGTAATGGATTTATAGAAGAAATAGCTGAGTGAAGAAGAAATAGGAGTGTTGACA... | CCCATCTCTACTAAAAATACAAAATTAGCTGAGTGTGGCGACAGATGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGCACCTAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGTAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAGAGAATGGGCTAGCAAAGAAATGAAAAATGGTAACACTGGAAGTGAAAATCAAAACAGAGTAATGGATTTATAGAAGAAATAGCTGAGTGAAGAAGAAATAGGAGTGTTGACA... | pathogenic | 84,022 |
Considering the genetic mutation at chromosome 4, position 88065406, impacting PKD2 (polycystin 2, transient receptor potential cation channel): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['PKD2-related_disorder', 'Polycystic_kidney_disease_2', 'likely other unspecified diseases'] | CCCATCTCTACTAAAAATACAAAATTAGCTGAGTGTGGCGACAGATGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGCACCTAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGTAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAGAGAATGGGCTAGCAAAGAAATGAAAAATGGTAACACTGGAAGTGAAAATCAAAACAGAGTAATGGATTTATAGAAGAAATAGCTGAGTGAAGAAGAAATAGGAGTGTTGACA... | CCCATCTCTACTAAAAATACAAAATTAGCTGAGTGTGGCGACAGATGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGCACCTAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGTAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAGAGAATGGGCTAGCAAAGAAATGAAAAATGGTAACACTGGAAGTGAAAATCAAAACAGAGTAATGGATTTATAGAAGAAATAGCTGAGTGAAGAAGAAATAGGAGTGTTGACA... | pathogenic | 84,023 |
Is the genetic mutation found on chromosome 4 at position 88065432, within the gene PKD2 (polycystin 2, transient receptor potential cation channel), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Polycystic_kidney_disease_2'] | AGCTGAGTGTGGCGACAGATGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGCACCTAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGTAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAGAGAATGGGCTAGCAAAGAAATGAAAAATGGTAACACTGGAAGTGAAAATCAAAACAGAGTAATGGATTTATAGAAGAAATAGCTGAGTGAAGAAGAAATAGGAGTGTTGACACTGCGATCATTCAAGAGATCCAGATA... | AGCTGAGTGTGGCGACAGATGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGCACCTAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGTAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAGAGAATGGGCTAGCAAAGAAATGAAAAATGGTAACACTGGAAGTGAAAATCAAAACAGAGTAATGGATTTATAGAAGAAATAGCTGAGTGAAGAAGAAATAGGAGTGTTGACACTGCGATCATTCAAGAGATCCAGATA... | pathogenic | 84,025 |
Variant in gene PKD2 (polycystin 2, transient receptor potential cation channel), located at chromosome 4 position 88065432: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Polycystic_kidney_disease_2'] | AGCTGAGTGTGGCGACAGATGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGCACCTAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGTAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAGAGAATGGGCTAGCAAAGAAATGAAAAATGGTAACACTGGAAGTGAAAATCAAAACAGAGTAATGGATTTATAGAAGAAATAGCTGAGTGAAGAAGAAATAGGAGTGTTGACACTGCGATCATTCAAGAGATCCAGATA... | AGCTGAGTGTGGCGACAGATGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGCACCTAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGTAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAGAGAATGGGCTAGCAAAGAAATGAAAAATGGTAACACTGGAAGTGAAAATCAAAACAGAGTAATGGATTTATAGAAGAAATAGCTGAGTGAAGAAGAAATAGGAGTGTTGACACTGCGATCATTCAAGAGATCCAGATA... | pathogenic | 84,026 |
For chromosome 4, position 88065462, gene PKD2 (polycystin 2, transient receptor potential cation channel): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'PKD2-related_disorder'] | CCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGCACCTAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGTAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAGAGAATGGGCTAGCAAAGAAATGAAAAATGGTAACACTGGAAGTGAAAATCAAAACAGAGTAATGGATTTATAGAAGAAATAGCTGAGTGAAGAAGAAATAGGAGTGTTGACACTGCGATCATTCAAGAGATCCAGATATGGAGCCAGAAGAACTTAGGGCAGGTCTAT... | CCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGCACCTAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGTAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAAGAGAATGGGCTAGCAAAGAAATGAAAAATGGTAACACTGGAAGTGAAAATCAAAACAGAGTAATGGATTTATAGAAGAAATAGCTGAGTGAAGAAGAAATAGGAGTGTTGACACTGCGATCATTCAAGAGATCCAGATATGGAGCCAGAAGAACTTAGGGCAGGTCTAT... | pathogenic | 84,027 |
Gene mutation in PKD2 (polycystin 2, transient receptor potential cation channel) at chromosome 4, position 88065872—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Polycystic_kidney_disease_2'] | TTATTAGAGATATTTCACAATAATGAAAGTACAAAAGAAAAAATGTTGGGGCTGGACATGGTGGCTTACTCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGTGGATCACTTGAGGCCAGGAAGTCGAGACAAGCCTGATCAACATGATGAAACCCCGTCTCTATTAAAAATACAAAAATTAGCCAGACATGATGGTGCACACCTGTAATTCCAGCTACTCAAGTGGCTGAGGCACGAGAATTGCTTGAACCAGGGAGGCGGAGGTTGCAGTAAGCTGAGATTGCACCACTGCAATCCAGCCAGGTGACAGGGTAAG... | TTATTAGAGATATTTCACAATAATGAAAGTACAAAAGAAAAAATGTTGGGGCTGGACATGGTGGCTTACTCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGTGGATCACTTGAGGCCAGGAAGTCGAGACAAGCCTGATCAACATGATGAAACCCCGTCTCTATTAAAAATACAAAAATTAGCCAGACATGATGGTGCACACCTGTAATTCCAGCTACTCAAGTGGCTGAGGCACGAGAATTGCTTGAACCAGGGAGGCGGAGGTTGCAGTAAGCTGAGATTGCACCACTGCAATCCAGCCAGGTGACAGGGTAAG... | pathogenic | 84,036 |
The chromosome 4, position 88068035 genetic variant in gene PKD2 (polycystin 2, transient receptor potential cation channel): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Polycystic_kidney_disease_2'] | CACACTCTCTCTCTCTCTCAGTCGGTTTATGTGTTAGTACCCTGTTTATTCCAGAAAGAATATATAACACAATTATGTATAAAAATGGGTGGTTAGCATGATATAAAAACGTCAAAATGAAAAGCAAGCAAAACAAAAGTAAAAATAATGGATTATTAATGAAGCTTAAAAATGCATTCATAAAAACACATATGCTTATTAAGATTGGGCTACAAATTGGGCCCTAAGCTTGCTGGTAATCAGCTTGAAAAGAGAAGCCTGATTAGCTGCAGAGTCCACAATGTCCGTGAGAGTGAAGAAAACAAAAAATGACTTACCAA... | CACACTCTCTCTCTCTCTCAGTCGGTTTATGTGTTAGTACCCTGTTTATTCCAGAAAGAATATATAACACAATTATGTATAAAAATGGGTGGTTAGCATGATATAAAAACGTCAAAATGAAAAGCAAGCAAAACAAAAGTAAAAATAATGGATTATTAATGAAGCTTAAAAATGCATTCATAAAAACACATATGCTTATTAAGATTGGGCTACAAATTGGGCCCTAAGCTTGCTGGTAATCAGCTTGAAAAGAGAAGCCTGATTAGCTGCAGAGTCCACAATGTCCGTGAGAGTGAAGAAAACAAAAAATGACTTACCAA... | pathogenic | 84,044 |
Chromosome 4, position 88074814, gene PKD2 (polycystin 2, transient receptor potential cation channel): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['PKD2-related_disorder', 'Polycystic_kidney_disease', 'Polycystic_kidney_disease_2'] | AGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGTCAAGGCAGGAGGATTGCTTGAGCCAGGAGTTCAGGACCAGCCTGTGCAACATGGTGAGACCCTCATCTCTACAAGAAATAGAAAAATTAACTGGTGGGTTGTGTATACCTGTAATCCCAGCTACTCGGGAGCCTGAAGTGGGAGGATTGCTTGAACCTGGAGGCAGAGGTTGCAGTGAGTCAAGATTACACCATTGCACGCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTAGGAACATTGAGGCTGGGCATGGTGGCT... | AGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGTCAAGGCAGGAGGATTGCTTGAGCCAGGAGTTCAGGACCAGCCTGTGCAACATGGTGAGACCCTCATCTCTACAAGAAATAGAAAAATTAACTGGTGGGTTGTGTATACCTGTAATCCCAGCTACTCGGGAGCCTGAAGTGGGAGGATTGCTTGAACCTGGAGGCAGAGGTTGCAGTGAGTCAAGATTACACCATTGCACGCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGTAGGAACATTGAGGCTGGGCATGGTGGCT... | pathogenic | 84,049 |
Regarding the variant found on chromosome 4 at position 88075921 in gene PKD2 (polycystin 2, transient receptor potential cation channel): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ACAGAACCCTCTTGCCACCATTGCAGAGGTTGTCTTTGGCTTACGAGTTTTTAAAGTATTTGTATACATTTTTTAAGTTCAAAATAATAGAATTGTAAGTGAACATGCTGTTTTCATACTGTTTTTCAAGCTTTATTTAATATATTGTAAATCTAATTCTATTTTATTAAATAGTCTGCCACAGTATAATGTCTGATGTCTCCTTAGAATTTTATTGTATGGATGAACAATGATTATTTAATTTCCTACCAATTGTTGGGTGTTTTTTGTTTGTTTGTTTGTTTTTGAGACTGGGTCTCACTCTGTCACCCAGGCTGGAG... | ACAGAACCCTCTTGCCACCATTGCAGAGGTTGTCTTTGGCTTACGAGTTTTTAAAGTATTTGTATACATTTTTTAAGTTCAAAATAATAGAATTGTAAGTGAACATGCTGTTTTCATACTGTTTTTCAAGCTTTATTTAATATATTGTAAATCTAATTCTATTTTATTAAATAGTCTGCCACAGTATAATGTCTGATGTCTCCTTAGAATTTTATTGTATGGATGAACAATGATTATTTAATTTCCTACCAATTGTTGGGTGTTTTTTGTTTGTTTGTTTGTTTTTGAGACTGGGTCTCACTCTGTCACCCAGGCTGGAG... | benign | 84,054 |
Determine if the mutation at chromosome 4, position 99559315 in gene TRMT10A (tRNA methyltransferase 10A) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Microcephaly,_short_stature,_and_impaired_glucose_metabolism_1'] | CTATAGGAATTATCTATGTCTTTTGCCACAAAAGACATAAAAGAAAACTAGAGTCTGCTTTAAAATCTTTACACATACCTGCACAGGATGCAGTGCCCGTCGGTTTTCTGCGTAACATCGTTGAATCTGCTTATGAAGTTTCTTAATGTCCTATCACAGAGTTCAATTTTTAAAGCAAAGTTATTAAAATTGTCTATGGCCATTCTATGATCTTAAAGGAATGGAATAAGCAGAAGGGATGACTATATACATACAATTTTTCTTCTTAAATACAAATGCATTCTGATAAATGTTATTTGATTTCCTTACATACTAGCAAA... | CTATAGGAATTATCTATGTCTTTTGCCACAAAAGACATAAAAGAAAACTAGAGTCTGCTTTAAAATCTTTACACATACCTGCACAGGATGCAGTGCCCGTCGGTTTTCTGCGTAACATCGTTGAATCTGCTTATGAAGTTTCTTAATGTCCTATCACAGAGTTCAATTTTTAAAGCAAAGTTATTAAAATTGTCTATGGCCATTCTATGATCTTAAAGGAATGGAATAAGCAGAAGGGATGACTATATACATACAATTTTTCTTCTTAAATACAAATGCATTCTGATAAATGTTATTTGATTTCCTTACATACTAGCAAA... | pathogenic | 84,239 |
Assess the variant on chromosome 4, position 99581983, impacting MTTP (microsomal triglyceride transfer protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Abetalipoproteinaemia', 'Metabolic_syndrome_X'] | GCTGAGGTGGGAGGATCACTTGAGCCTGGAGATGAAGGTTGCAGTGAGCCGAGATCGCATGACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAGTAAAGAAAGAAGAAGAAACTTTCTCTGCCTTTCTCTGCTTGTTAACTGGTGTAGTCCCAGAGCCTTAAAAAGTACTTACTATTCAACAGGTACTCACTATATTCTAGTTGAATGAATGAATAAATTTCTAGCTCACTGCCTAGGAATGGAAAATAATTCAACCTATAGTTTTAGAGATATATAGTATAGATAAGAGC... | GCTGAGGTGGGAGGATCACTTGAGCCTGGAGATGAAGGTTGCAGTGAGCCGAGATCGCATGACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAGTAAAGAAAGAAGAAGAAACTTTCTCTGCCTTTCTCTGCTTGTTAACTGGTGTAGTCCCAGAGCCTTAAAAAGTACTTACTATTCAACAGGTACTCACTATATTCTAGTTGAATGAATGAATAAATTTCTAGCTCACTGCCTAGGAATGGAAAATAATTCAACCTATAGTTTTAGAGATATATAGTATAGATAAGAGC... | pathogenic | 84,248 |
Clinical classification of chromosome 4, position 99589645, gene MTTP (microsomal triglyceride transfer protein): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['MTTP-related_disorder'] | CATTTTGTAGCCTGGAAGGAAAGTGACATAGTGGTGACAATACTGGTATTTTTCCCACTTAGGAGATCTTGCTTTCTAAAGTATTTAAGGTTCATACCAAAAAGACATGGGCCATATAGACATGTGTGCATTGCCACTGAGTGAACACTTCTGACTATTTTGGGGCAATCTAGTTATGAACTTCTAATGGTCATGATACCTGGAGATACACTTCCAAATATTTGAAAAGGAAATTACACTGTGATTATTAGAGGAAGGAGATATAGTTTACAAAATAGAACTTCAGAAACTCAGGCTTGGGTCTGAGATATTGCCAGTGA... | CATTTTGTAGCCTGGAAGGAAAGTGACATAGTGGTGACAATACTGGTATTTTTCCCACTTAGGAGATCTTGCTTTCTAAAGTATTTAAGGTTCATACCAAAAAGACATGGGCCATATAGACATGTGTGCATTGCCACTGAGTGAACACTTCTGACTATTTTGGGGCAATCTAGTTATGAACTTCTAATGGTCATGATACCTGGAGATACACTTCCAAATATTTGAAAAGGAAATTACACTGTGATTATTAGAGGAAGGAGATATAGTTTACAAAATAGAACTTCAGAAACTCAGGCTTGGGTCTGAGATATTGCCAGTGA... | pathogenic | 84,258 |
Variant at chromosome position 99589664, chromosome 4, gene MTTP (microsomal triglyceride transfer protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Abetalipoproteinaemia', 'MTTP-related_disorder'] | AAAGTGACATAGTGGTGACAATACTGGTATTTTTCCCACTTAGGAGATCTTGCTTTCTAAAGTATTTAAGGTTCATACCAAAAAGACATGGGCCATATAGACATGTGTGCATTGCCACTGAGTGAACACTTCTGACTATTTTGGGGCAATCTAGTTATGAACTTCTAATGGTCATGATACCTGGAGATACACTTCCAAATATTTGAAAAGGAAATTACACTGTGATTATTAGAGGAAGGAGATATAGTTTACAAAATAGAACTTCAGAAACTCAGGCTTGGGTCTGAGATATTGCCAGTGATTTGTTTGAGAATATGATA... | AAAGTGACATAGTGGTGACAATACTGGTATTTTTCCCACTTAGGAGATCTTGCTTTCTAAAGTATTTAAGGTTCATACCAAAAAGACATGGGCCATATAGACATGTGTGCATTGCCACTGAGTGAACACTTCTGACTATTTTGGGGCAATCTAGTTATGAACTTCTAATGGTCATGATACCTGGAGATACACTTCCAAATATTTGAAAAGGAAATTACACTGTGATTATTAGAGGAAGGAGATATAGTTTACAAAATAGAACTTCAGAAACTCAGGCTTGGGTCTGAGATATTGCCAGTGATTTGTTTGAGAATATGATA... | pathogenic | 84,260 |
Variant at chromosome position 99591703, chromosome 4, gene MTTP (microsomal triglyceride transfer protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Abetalipoproteinaemia'] | TACTCATATCAAAATGAGGCAGTGGCCATAGAAAATATCAAGAGAGGTCTGGCTAGCCTATTTCAGACACAGTTAAGCTCTGGAACCACCAATGAGGTACTTACCAATATTAATAAGGATTCAGCATCTCAATAAAATTTGTAAGGATTTCTACTTATACAATTTCAGTAGAAGAGTTACTACTAAGGTAATGCTCAGAAAAGGTGACTTGTGTAGTGAAGTCGCATTTGCCTATGAAACAATTGCCATTTATCCCAATGTTTTGTTAATTAATTACAAGGTAGAGAGGATTAGAAATATTTATACTAAAGGAGCTTCGT... | TACTCATATCAAAATGAGGCAGTGGCCATAGAAAATATCAAGAGAGGTCTGGCTAGCCTATTTCAGACACAGTTAAGCTCTGGAACCACCAATGAGGTACTTACCAATATTAATAAGGATTCAGCATCTCAATAAAATTTGTAAGGATTTCTACTTATACAATTTCAGTAGAAGAGTTACTACTAAGGTAATGCTCAGAAAAGGTGACTTGTGTAGTGAAGTCGCATTTGCCTATGAAACAATTGCCATTTATCCCAATGTTTTGTTAATTAATTACAAGGTAGAGAGGATTAGAAATATTTATACTAAAGGAGCTTCGT... | pathogenic | 84,272 |
Assess the variant on chromosome 4, position 99591734, impacting MTTP (microsomal triglyceride transfer protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Abetalipoproteinaemia'] | AAAATATCAAGAGAGGTCTGGCTAGCCTATTTCAGACACAGTTAAGCTCTGGAACCACCAATGAGGTACTTACCAATATTAATAAGGATTCAGCATCTCAATAAAATTTGTAAGGATTTCTACTTATACAATTTCAGTAGAAGAGTTACTACTAAGGTAATGCTCAGAAAAGGTGACTTGTGTAGTGAAGTCGCATTTGCCTATGAAACAATTGCCATTTATCCCAATGTTTTGTTAATTAATTACAAGGTAGAGAGGATTAGAAATATTTATACTAAAGGAGCTTCGTGGGGATCATTCCAGTGGTTCCCAGATATCAC... | AAAATATCAAGAGAGGTCTGGCTAGCCTATTTCAGACACAGTTAAGCTCTGGAACCACCAATGAGGTACTTACCAATATTAATAAGGATTCAGCATCTCAATAAAATTTGTAAGGATTTCTACTTATACAATTTCAGTAGAAGAGTTACTACTAAGGTAATGCTCAGAAAAGGTGACTTGTGTAGTGAAGTCGCATTTGCCTATGAAACAATTGCCATTTATCCCAATGTTTTGTTAATTAATTACAAGGTAGAGAGGATTAGAAATATTTATACTAAAGGAGCTTCGTGGGGATCATTCCAGTGGTTCCCAGATATCAC... | pathogenic | 84,273 |
Evaluate if the mutation on chromosome 4 at position 99606794 in MTTP (microsomal triglyceride transfer protein) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Abetalipoproteinaemia'] | TTTCCCTCATTTCATCATTCTATTTTCCTTCTCCCACTGTGACAACTGTGGTTTTCGAGAACACCAATATATTGATTCACCTGCTCAATTCTAAAACATACACAATATATTTTTGGAATTGCCATACTGATATTACTACAGAAACAAACTAAATAAAGTTCAAGACTTTTACAGTTCTTTTTGTCCTTAGAATATATTCCATCGCATGTACACAAAGTTCTATGCTCAAAAGTTACTTGGATTAATTCTTTTTCATTCTCTTCTGTTTAGTCATATTATCAAGTTGATAGACATTTAGTTTCATTTGTTTCTGGTTAAAC... | TTTCCCTCATTTCATCATTCTATTTTCCTTCTCCCACTGTGACAACTGTGGTTTTCGAGAACACCAATATATTGATTCACCTGCTCAATTCTAAAACATACACAATATATTTTTGGAATTGCCATACTGATATTACTACAGAAACAAACTAAATAAAGTTCAAGACTTTTACAGTTCTTTTTGTCCTTAGAATATATTCCATCGCATGTACACAAAGTTCTATGCTCAAAAGTTACTTGGATTAATTCTTTTTCATTCTCTTCTGTTTAGTCATATTATCAAGTTGATAGACATTTAGTTTCATTTGTTTCTGGTTAAAC... | pathogenic | 84,287 |
Benign or pathogenic: chromosome 4, position 99608842, gene MTTP (microsomal triglyceride transfer protein) variant? Disease(s) if pathogenic? | pathogenic; ['Abetalipoproteinaemia', 'Metabolic_syndrome_X'] | CAGAGAAAAAAGAGGACACCAGGATGTATCTGCTGGCTTTGAAGAATGCCCTGCTTCCAGAAGGCATCCCAAGTCTTCTGAAGTATGCAGAAGCAGGAGAAGGGCCCATCAGCCACCTGGCTACCACTGCTCTCCAGAGATATGATCTCCCTTTCATAACTGATGAGGTAAAATCTCCAAGAATATTTGCAACATTTACAGAAGAAAAAAAAAAAGCATGCTGAACATGAGTCAAATGCAAATTCCGCTCAAGTCACTCTGTATTTTCCCCAAATAGTCTTCTCTCCTGCTTAAAAATAACTCTTAAATTGCATTTGCGG... | CAGAGAAAAAAGAGGACACCAGGATGTATCTGCTGGCTTTGAAGAATGCCCTGCTTCCAGAAGGCATCCCAAGTCTTCTGAAGTATGCAGAAGCAGGAGAAGGGCCCATCAGCCACCTGGCTACCACTGCTCTCCAGAGATATGATCTCCCTTTCATAACTGATGAGGTAAAATCTCCAAGAATATTTGCAACATTTACAGAAGAAAAAAAAAAAGCATGCTGAACATGAGTCAAATGCAAATTCCGCTCAAGTCACTCTGTATTTTCCCCAAATAGTCTTCTCTCCTGCTTAAAAATAACTCTTAAATTGCATTTGCGG... | pathogenic | 84,292 |
Variant at chromosome position 99611412, chromosome 4, gene MTTP (microsomal triglyceride transfer protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Abetalipoproteinaemia'] | TTTATCACAGATCAAATAAATTTCCCATTTAAGTTTAAAATCTTAGGCACGGCCCACATTTCAAGGTGATTCAAAATTTAAAGAGTGCAATCAGTAGAGTTCATCACTCTATAACTCTTGCTGAATTAATTTCCTTCCAGTTACCAAGTCTGTCCTCCCAAATGCAAAGTGGCTCCCCCAAGGTGCCTCCTCCCTGGAATTAGAGGGTCAGAGAAGGAAGTTTCATTTTTCCTGAGTTACATGCAGAACACTACCCCCACGAAAGATCAGATTTAAGCATTCACCACAGAGATTGGAAGGGTGGAAAATAAAGGGAAAGA... | TTTATCACAGATCAAATAAATTTCCCATTTAAGTTTAAAATCTTAGGCACGGCCCACATTTCAAGGTGATTCAAAATTTAAAGAGTGCAATCAGTAGAGTTCATCACTCTATAACTCTTGCTGAATTAATTTCCTTCCAGTTACCAAGTCTGTCCTCCCAAATGCAAAGTGGCTCCCCCAAGGTGCCTCCTCCCTGGAATTAGAGGGTCAGAGAAGGAAGTTTCATTTTTCCTGAGTTACATGCAGAACACTACCCCCACGAAAGATCAGATTTAAGCATTCACCACAGAGATTGGAAGGGTGGAAAATAAAGGGAAAGA... | pathogenic | 84,303 |
Does the chromosome 4 mutation at position 99613133 within gene MTTP (microsomal triglyceride transfer protein) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Abetalipoproteinaemia'] | ACTTGGGAAACAGTCATTACAATGAATGTGCAGCTTTTTTTTTCCTCATATGTTGCAGCAAAATTGTCCGTCGAGTTCTGAAGGAAATGGTCGCTCACAATTATGACCGTTTCTCCAGGAGTGGATCTTCTTCTGCCTACACTGGCTACATAGAACGTATGTACACCAAAAAGAGGTTCTCCTTCCATACCCCACAACTTAGCATTGCTGGAACTGCTATTAAATTACAGTTATTGTGTGTCATCAGGTAGTCCCCGTTCGGCATCTACTTACAGCCTAGACATTCTCTACTCGGGTTCTGGCATTCTAAGGAGAAGTAA... | ACTTGGGAAACAGTCATTACAATGAATGTGCAGCTTTTTTTTTCCTCATATGTTGCAGCAAAATTGTCCGTCGAGTTCTGAAGGAAATGGTCGCTCACAATTATGACCGTTTCTCCAGGAGTGGATCTTCTTCTGCCTACACTGGCTACATAGAACGTATGTACACCAAAAAGAGGTTCTCCTTCCATACCCCACAACTTAGCATTGCTGGAACTGCTATTAAATTACAGTTATTGTGTGTCATCAGGTAGTCCCCGTTCGGCATCTACTTACAGCCTAGACATTCTCTACTCGGGTTCTGGCATTCTAAGGAGAAGTAA... | pathogenic | 84,311 |
Chromosome 4, position 101032251, gene PPP3CA: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TCTGTAACTCCAAAATGTTTAATATTAAAATTCTACCCCTTGACTTTAATTTGCATTTTTCTTATAATTCAAGATTTTAAAACTACAGCAACTGCAAAATGTGCACTATAACTTACTTACGGTGGATTCGAGATTCCTTATGATAAAAATGGAGAATGGTTATCACCATGGAGAGAGAGAGTACATAGCAAAGTTGTAAGTAGTCTACCCTTTTAGACAAATTGAAGGGCATCAGGCAATACATTTTGGAGTCGTATCAATGTATGTGGTTTAAAATATATAGTAAGTTTTCAAACCCATATAGAAAGGTTCCAACCCAT... | TCTGTAACTCCAAAATGTTTAATATTAAAATTCTACCCCTTGACTTTAATTTGCATTTTTCTTATAATTCAAGATTTTAAAACTACAGCAACTGCAAAATGTGCACTATAACTTACTTACGGTGGATTCGAGATTCCTTATGATAAAAATGGAGAATGGTTATCACCATGGAGAGAGAGAGTACATAGCAAAGTTGTAAGTAGTCTACCCTTTTAGACAAATTGAAGGGCATCAGGCAATACATTTTGGAGTCGTATCAATGTATGTGGTTTAAAATATATAGTAAGTTTTCAAACCCATATAGAAAGGTTCCAACCCAT... | benign | 84,340 |
Does the variant on chromosome 4 at location 101032322 affecting gene PPP3CA (protein phosphatase 3 catalytic subunit alpha) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Developmental_and_epileptic_encephalopathy_91'] | AGATTTTAAAACTACAGCAACTGCAAAATGTGCACTATAACTTACTTACGGTGGATTCGAGATTCCTTATGATAAAAATGGAGAATGGTTATCACCATGGAGAGAGAGAGTACATAGCAAAGTTGTAAGTAGTCTACCCTTTTAGACAAATTGAAGGGCATCAGGCAATACATTTTGGAGTCGTATCAATGTATGTGGTTTAAAATATATAGTAAGTTTTCAAACCCATATAGAAAGGTTCCAACCCATATGTCTTTTATGTGTATGTGTGTTTGTGTGTAGGTTGAACCATAGAAAAACACAAACCAATGGATTTAAAA... | AGATTTTAAAACTACAGCAACTGCAAAATGTGCACTATAACTTACTTACGGTGGATTCGAGATTCCTTATGATAAAAATGGAGAATGGTTATCACCATGGAGAGAGAGAGTACATAGCAAAGTTGTAAGTAGTCTACCCTTTTAGACAAATTGAAGGGCATCAGGCAATACATTTTGGAGTCGTATCAATGTATGTGGTTTAAAATATATAGTAAGTTTTCAAACCCATATAGAAAGGTTCCAACCCATATGTCTTTTATGTGTATGTGTGTTTGTGTGTAGGTTGAACCATAGAAAAACACAAACCAATGGATTTAAAA... | pathogenic | 84,342 |
Gene PPP3CA (protein phosphatase 3 catalytic subunit alpha) variant at chromosome position 101083269 on chromosome 4: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CCTAGACTAAGTAATTTTCTTTAAAAAGAATGTCCCCTTAAATCTATGAAATTTTACAAATTGAGACTGTTTCTATTTTAGAATTTTATTTATTACCAATCTCTGCTGGTGTCTACAGGTCAAAGATTATTGTCTCAGCAGGGTAATATTTAATCAATCAGTAATGAAACAGAACATGCACAAGAACTTTGGAAATAAACCAACAATCCAGTTACTAAGCAGAAATAATTTATAATGTAACACTTTAGTTCTCAATTAAAAATACAGGTGACTGTGTCTCTTTTACATAAGGATAAAAATGTATCTCATGACTTCTGTGT... | CCTAGACTAAGTAATTTTCTTTAAAAAGAATGTCCCCTTAAATCTATGAAATTTTACAAATTGAGACTGTTTCTATTTTAGAATTTTATTTATTACCAATCTCTGCTGGTGTCTACAGGTCAAAGATTATTGTCTCAGCAGGGTAATATTTAATCAATCAGTAATGAAACAGAACATGCACAAGAACTTTGGAAATAAACCAACAATCCAGTTACTAAGCAGAAATAATTTATAATGTAACACTTTAGTTCTCAATTAAAAATACAGGTGACTGTGTCTCTTTTACATAAGGATAAAAATGTATCTCATGACTTCTGTGT... | benign | 84,355 |
Variant in gene SLC39A8, located at chromosome 4 position 102267676: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CAATAAAACAAGGTGCTCCTGTAATAGAATGCTGGGAGGGGTGGTATGATCATTTACTTTGGATGTTTAAAGGTTTTAGTACTGATAGCTTAATAGGAATATCTAGTTCTTTCAGGCATCAACAAGAGTAAAAGTACTGAAGTAGTATTTTTCTCCAACTGAATCAATCAGTGGGATGGAATTTACCTCATTTTATGTTCTCTTTCTCCTTTTCCATTACCTGCTCTCTATGCTTCACCCAACCCATTCTTTCATGACCTCAAGTTTACCCAGCAAAATCTTCACATCTACCATCACCTGTACCAGAACTTGTATTTCTC... | CAATAAAACAAGGTGCTCCTGTAATAGAATGCTGGGAGGGGTGGTATGATCATTTACTTTGGATGTTTAAAGGTTTTAGTACTGATAGCTTAATAGGAATATCTAGTTCTTTCAGGCATCAACAAGAGTAAAAGTACTGAAGTAGTATTTTTCTCCAACTGAATCAATCAGTGGGATGGAATTTACCTCATTTTATGTTCTCTTTCTCCTTTTCCATTACCTGCTCTCTATGCTTCACCCAACCCATTCTTTCATGACCTCAAGTTTACCCAGCAAAATCTTCACATCTACCATCACCTGTACCAGAACTTGTATTTCTC... | benign | 84,390 |
Determine if the mutation at chromosome 4, position 102315846 in gene SLC39A8 (solute carrier family 39 member 8) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | AGGCTGGTGTTGAACTCCTGGCCTCAAGCAATCCTCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGATGAGTCACCGTGCCTAGCCCCAGTGTCTTTAAATATCATCTCTAGACTGGCAAATCCCCAGTCTTGACCTCTCCTCTGAAAGCAATCTCCTCTCCAAATGTCTGTGTGCCTTTGCCTACTGGACCTCCCTGTCTACCTGTGTATGTCAATGTCTCAAAGCAACCACGCCAAAAATTATATTCTTTATCCTCACCACTCCCTTCCTCTACAATAAAGGGCTCTTCCCAGTCTTCTCCATCCCGGGAAATG... | AGGCTGGTGTTGAACTCCTGGCCTCAAGCAATCCTCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGATGAGTCACCGTGCCTAGCCCCAGTGTCTTTAAATATCATCTCTAGACTGGCAAATCCCCAGTCTTGACCTCTCCTCTGAAAGCAATCTCCTCTCCAAATGTCTGTGTGCCTTTGCCTACTGGACCTCCCTGTCTACCTGTGTATGTCAATGTCTCAAAGCAACCACGCCAAAAATTATATTCTTTATCCTCACCACTCCCTTCCTCTACAATAAAGGGCTCTTCCCAGTCTTCTCCATCCCGGGAAATG... | benign | 84,398 |
The chromosome 4, position 102567039 genetic variant in gene NFKB1 (nuclear factor kappa B subunit 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Immunodeficiency,_common_variable,_12'] | GCATCAGCAATCTATAGAGAGTATCTAGGGACAGCAGTCAGCTTTGGAGAAAACCCAGAACTTCTCATACCCCATCCCACATTTAAGGGCAAAGACTTTCTCCTTGTTAAAGGGAAAGCACTGAGTTCATAATTAGCTTTATACCCAGAGTTTTTTTTTTTTTAAATGTTATACCTGTTTAAGAAATTTTTTGTGCTTTGAGGTGGTCAAGATCAAATTTAATTAGCAACCCTCTTCGTGATTGGCTTGCTCTGGGGACCCTGCTCTTTGAGAAGGAGGTTAGAAGGTTTAGAAGCAAACCTTTGCAGCAGTTCTAGCCA... | GCATCAGCAATCTATAGAGAGTATCTAGGGACAGCAGTCAGCTTTGGAGAAAACCCAGAACTTCTCATACCCCATCCCACATTTAAGGGCAAAGACTTTCTCCTTGTTAAAGGGAAAGCACTGAGTTCATAATTAGCTTTATACCCAGAGTTTTTTTTTTTTTAAATGTTATACCTGTTTAAGAAATTTTTTGTGCTTTGAGGTGGTCAAGATCAAATTTAATTAGCAACCCTCTTCGTGATTGGCTTGCTCTGGGGACCCTGCTCTTTGAGAAGGAGGTTAGAAGGTTTAGAAGCAAACCTTTGCAGCAGTTCTAGCCA... | pathogenic | 84,411 |
The mutation impacting NFKB1 (nuclear factor kappa B subunit 1) on chromosome 4 at position 102567102: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | CTCATACCCCATCCCACATTTAAGGGCAAAGACTTTCTCCTTGTTAAAGGGAAAGCACTGAGTTCATAATTAGCTTTATACCCAGAGTTTTTTTTTTTTTAAATGTTATACCTGTTTAAGAAATTTTTTGTGCTTTGAGGTGGTCAAGATCAAATTTAATTAGCAACCCTCTTCGTGATTGGCTTGCTCTGGGGACCCTGCTCTTTGAGAAGGAGGTTAGAAGGTTTAGAAGCAAACCTTTGCAGCAGTTCTAGCCAAGTGCATGCATACAGGCCTTGAGGTGGAGCTGCACAGTTGACTGTAGGGGAGTCTGTCCTTTG... | CTCATACCCCATCCCACATTTAAGGGCAAAGACTTTCTCCTTGTTAAAGGGAAAGCACTGAGTTCATAATTAGCTTTATACCCAGAGTTTTTTTTTTTTTAAATGTTATACCTGTTTAAGAAATTTTTTGTGCTTTGAGGTGGTCAAGATCAAATTTAATTAGCAACCCTCTTCGTGATTGGCTTGCTCTGGGGACCCTGCTCTTTGAGAAGGAGGTTAGAAGGTTTAGAAGCAAACCTTTGCAGCAGTTCTAGCCAAGTGCATGCATACAGGCCTTGAGGTGGAGCTGCACAGTTGACTGTAGGGGAGTCTGTCCTTTG... | pathogenic | 84,412 |
Clinically, how would you classify the variant at chromosome 4, position 102576883, gene NFKB1 (nuclear factor kappa B subunit 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Immunodeficiency,_common_variable,_12'] | AATCCTTCATTATTCACATAATAAATTAATAAGGATGATGTTTTTCTCACAGGGACTAGATTAGGCAATATACATGAAAAGCATATTATTGACAGTAAAGTGTAAGATGCTACACAGATGTTTATCATTGCTATTACAAAGGAGATAACCCCGTTTTCCTGCAGTTAGGGAAGTTCTATATGGGAGTAAGGCTGAAAGGGCCAAAAGATATAGGTATTGTTTCTGAAAAACTGCCTATGCTTCTATGCATATAAGTATGTCATGTTGCATATTTTTCTGTGCTGTATTAATTCATGCATTCCTTTATCAACAGATACTTA... | AATCCTTCATTATTCACATAATAAATTAATAAGGATGATGTTTTTCTCACAGGGACTAGATTAGGCAATATACATGAAAAGCATATTATTGACAGTAAAGTGTAAGATGCTACACAGATGTTTATCATTGCTATTACAAAGGAGATAACCCCGTTTTCCTGCAGTTAGGGAAGTTCTATATGGGAGTAAGGCTGAAAGGGCCAAAAGATATAGGTATTGTTTCTGAAAAACTGCCTATGCTTCTATGCATATAAGTATGTCATGTTGCATATTTTTCTGTGCTGTATTAATTCATGCATTCCTTTATCAACAGATACTTA... | pathogenic | 84,415 |
Clinical significance of chromosome 4, position 102580633, gene NFKB1 (nuclear factor kappa B subunit 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Common_variable_immunodeficiency'] | TACTGTAGAGAGGAAAGGGAAAGGTGGGGGAAGGACAGGAGAGGAGGGAGGCGATCTGATACACGGAAGAGAGTTTTTACTGTAATCCGGAGAAAATGCAGGTCTTCTTTGATGCCTTTCATATTGGATGACATAAATGAGACTGTTTTTAACACTTTATTAGCAATATGAAGAGTTTCAAAAGAGGAAAAATGGGTTTTTATTGTAAGTTTACATTATTTGGGCTTTATAAAAGCATGGTCTTTTAAATGTTCACACTTCCCTGGGCATGAATGGACTGTGCTGTATGGCCCTAGATCGGGAAAAAGAGCTAATCCGCC... | TACTGTAGAGAGGAAAGGGAAAGGTGGGGGAAGGACAGGAGAGGAGGGAGGCGATCTGATACACGGAAGAGAGTTTTTACTGTAATCCGGAGAAAATGCAGGTCTTCTTTGATGCCTTTCATATTGGATGACATAAATGAGACTGTTTTTAACACTTTATTAGCAATATGAAGAGTTTCAAAAGAGGAAAAATGGGTTTTTATTGTAAGTTTACATTATTTGGGCTTTATAAAAGCATGGTCTTTTAAATGTTCACACTTCCCTGGGCATGAATGGACTGTGCTGTATGGCCCTAGATCGGGAAAAAGAGCTAATCCGCC... | pathogenic | 84,417 |
Variant in gene NFKB1 (nuclear factor kappa B subunit 1), located at chromosome 4 position 102582929: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Immunodeficiency,_common_variable,_12', 'Inherited_Immunodeficiency_Diseases'] | GATAATTATAATCAGTGACTTTCAGTATCTTTATACATTAAAATTAATATCTGTACTTTGTTAAACAAAAATAAATAATAGCCCATTCTTGACACACATACAAACACACACACAGAATAATGTTTTACATAGTATTAAATTGTTTTTATTTCTTTTGCAATGCTTTGATATAACACTGAGAGAACTTCTCTGAACACTTCCACAGATGTGATGTTTAAGAAAAGGAAAGAAAACAGGGAATACAGGGAAATTCTCAGAGCACATTTCTCTCACAATTTTCCCTTTGAGGAAAGGTTCTTGGCGTTTATCTTTCATTAGAT... | GATAATTATAATCAGTGACTTTCAGTATCTTTATACATTAAAATTAATATCTGTACTTTGTTAAACAAAAATAAATAATAGCCCATTCTTGACACACATACAAACACACACACAGAATAATGTTTTACATAGTATTAAATTGTTTTTATTTCTTTTGCAATGCTTTGATATAACACTGAGAGAACTTCTCTGAACACTTCCACAGATGTGATGTTTAAGAAAAGGAAAGAAAACAGGGAATACAGGGAAATTCTCAGAGCACATTTCTCTCACAATTTTCCCTTTGAGGAAAGGTTCTTGGCGTTTATCTTTCATTAGAT... | pathogenic | 84,421 |
The mutation impacting NFKB1 (nuclear factor kappa B subunit 1) on chromosome 4 at position 102613430: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | ATTTCCCCAGAAGGCCTTGCCACAGAACACAAAAAGATGATGCACTCAGTGACCCCACGCTCTCCTTACCCAGGTCAGCCAGCAACAGAGTGACTGCAGAGAACACCACAAATGCCTCGGCAGCTACAGAATAATTTTTCTTTTAGCCTAAGACAATTCTGGACCCTCAGTTAAAATGTCAGTATTGCCAGAGGGTTAACACCAAGCCTTGTGAACATCTAGACATCTCAATTTGAGCAAGTTTATACAATTCATTCTCATAAGCTTGTTCCTATGGAAGAAGGGAGACAGCTTCACAGCTCTGAGTAAGCTCTTCACTA... | ATTTCCCCAGAAGGCCTTGCCACAGAACACAAAAAGATGATGCACTCAGTGACCCCACGCTCTCCTTACCCAGGTCAGCCAGCAACAGAGTGACTGCAGAGAACACCACAAATGCCTCGGCAGCTACAGAATAATTTTTCTTTTAGCCTAAGACAATTCTGGACCCTCAGTTAAAATGTCAGTATTGCCAGAGGGTTAACACCAAGCCTTGTGAACATCTAGACATCTCAATTTGAGCAAGTTTATACAATTCATTCTCATAAGCTTGTTCCTATGGAAGAAGGGAGACAGCTTCACAGCTCTGAGTAAGCTCTTCACTA... | pathogenic | 84,452 |
For chromosome 4, position 102613583, gene NFKB1 (nuclear factor kappa B subunit 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CAATTCTGGACCCTCAGTTAAAATGTCAGTATTGCCAGAGGGTTAACACCAAGCCTTGTGAACATCTAGACATCTCAATTTGAGCAAGTTTATACAATTCATTCTCATAAGCTTGTTCCTATGGAAGAAGGGAGACAGCTTCACAGCTCTGAGTAAGCTCTTCACTAGCCTTAGGTCTCTGAGCAGGAGATGATTGACATGGTGGCCTGGACTGCCTGTTCCTTCCAAAAGGCTATAGCTCTGACTCTCTGCAGTTTGGTTGGGTATTCTGACCCAGCTCAGAGTTTGTGCAAAGCACTATTTCCCAGTACCAGAGCCCC... | CAATTCTGGACCCTCAGTTAAAATGTCAGTATTGCCAGAGGGTTAACACCAAGCCTTGTGAACATCTAGACATCTCAATTTGAGCAAGTTTATACAATTCATTCTCATAAGCTTGTTCCTATGGAAGAAGGGAGACAGCTTCACAGCTCTGAGTAAGCTCTTCACTAGCCTTAGGTCTCTGAGCAGGAGATGATTGACATGGTGGCCTGGACTGCCTGTTCCTTCCAAAAGGCTATAGCTCTGACTCTCTGCAGTTTGGTTGGGTATTCTGACCCAGCTCAGAGTTTGTGCAAAGCACTATTTCCCAGTACCAGAGCCCC... | benign | 84,454 |
Is the genetic change at chromosome 4, position 102632290, within gene MANBA (mannosidase beta) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TATTCCTTAATAGGAATAATATGTATACGGCACATTTCTTTTCTTTTAGAAGTTGTTGTCAGCATATATTTATGTCCTTTAATTTATTCTTCCCTTACAAATTATTCTTTTCTGGTATTATTTTCAGAAAGAATTTGCTGAAGAACTTACTTACCATTTGCCTCTCTTCACTTCATTTTTACTATTGCTTTCTGTACTAACTGGATGATAATGAATGTGATGTTAAAAGTACAATCACCATTTACTTAGCATTTTAATTTGTTCCAGACCCTATTTGTTAAGTCCTCACACCTACCTTTGAAGGTGAGGGATCATTAGCT... | TATTCCTTAATAGGAATAATATGTATACGGCACATTTCTTTTCTTTTAGAAGTTGTTGTCAGCATATATTTATGTCCTTTAATTTATTCTTCCCTTACAAATTATTCTTTTCTGGTATTATTTTCAGAAAGAATTTGCTGAAGAACTTACTTACCATTTGCCTCTCTTCACTTCATTTTTACTATTGCTTTCTGTACTAACTGGATGATAATGAATGTGATGTTAAAAGTACAATCACCATTTACTTAGCATTTTAATTTGTTCCAGACCCTATTTGTTAAGTCCTCACACCTACCTTTGAAGGTGAGGGATCATTAGCT... | benign | 84,465 |
Regarding the variant at chromosome 4 and position 102635027, affecting gene MANBA (mannosidase beta): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Beta-D-mannosidosis'] | AACCTGGTTTCTTAATCTGTGCATTTGTCATGCAACATCTCAGTCTTACATTATATGTTATGTGTGACATAAAGAATTTCAAAGGGCCATTTTCACTATATATAATTTAGCCTTACATATTTGTGTAATATGTTATCATTCAGGGTTCTGAGTTATACACAAGGAAACCTATATTGATAGAAGCAGAAAAGAAGCTTAATAAAGCGTATCAGGTTGCTCTTCAGGATCAGAGACTCAGGCTTGAATTTGGATGGCAAATTCCCAGATCGCACCGCCCAGCTGTTCCAGTGAAGGTCCTAAAGCAGCCACAGGAACAAGGT... | AACCTGGTTTCTTAATCTGTGCATTTGTCATGCAACATCTCAGTCTTACATTATATGTTATGTGTGACATAAAGAATTTCAAAGGGCCATTTTCACTATATATAATTTAGCCTTACATATTTGTGTAATATGTTATCATTCAGGGTTCTGAGTTATACACAAGGAAACCTATATTGATAGAAGCAGAAAAGAAGCTTAATAAAGCGTATCAGGTTGCTCTTCAGGATCAGAGACTCAGGCTTGAATTTGGATGGCAAATTCCCAGATCGCACCGCCCAGCTGTTCCAGTGAAGGTCCTAAAGCAGCCACAGGAACAAGGT... | pathogenic | 84,470 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 102657844, gene MANBA (mannosidase beta). What disease(s) is it linked to if pathogenic? | pathogenic; ['Beta-D-mannosidosis'] | CAAAATTTAAATTTTTTGTGCTGTAAGTGATACCATCAAAGTGAATAAGGTGACAACCCACAGACTGGGAGAAAATATTTGCAAATCATATACCTGATAAAATCTTATAGCCAGAATATATTTTTTTAATTTTCATAATTCAATAAAATAAAGACAAATAATTTTAAAATGATCAGGCCATGCATAGTGGCTCACACCTGTAAGCCCAGCACTTTGGGAGCCCGAGGTAGGAAGATCACTTGAGCTCAGGAGTTCCAGACCAGCCTGGATGATTTGGTGAAACTCCGTCTCTATAAAAAATACAAAAATTAGCTGGGTGT... | CAAAATTTAAATTTTTTGTGCTGTAAGTGATACCATCAAAGTGAATAAGGTGACAACCCACAGACTGGGAGAAAATATTTGCAAATCATATACCTGATAAAATCTTATAGCCAGAATATATTTTTTTAATTTTCATAATTCAATAAAATAAAGACAAATAATTTTAAAATGATCAGGCCATGCATAGTGGCTCACACCTGTAAGCCCAGCACTTTGGGAGCCCGAGGTAGGAAGATCACTTGAGCTCAGGAGTTCCAGACCAGCCTGGATGATTTGGTGAAACTCCGTCTCTATAAAAAATACAAAAATTAGCTGGGTGT... | pathogenic | 84,491 |
Variant at chromosome 4, position 102657874, gene MANBA (mannosidase beta): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Beta-D-mannosidosis'] | TACCATCAAAGTGAATAAGGTGACAACCCACAGACTGGGAGAAAATATTTGCAAATCATATACCTGATAAAATCTTATAGCCAGAATATATTTTTTTAATTTTCATAATTCAATAAAATAAAGACAAATAATTTTAAAATGATCAGGCCATGCATAGTGGCTCACACCTGTAAGCCCAGCACTTTGGGAGCCCGAGGTAGGAAGATCACTTGAGCTCAGGAGTTCCAGACCAGCCTGGATGATTTGGTGAAACTCCGTCTCTATAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACTTGTAGTCCCAGCTTCTT... | TACCATCAAAGTGAATAAGGTGACAACCCACAGACTGGGAGAAAATATTTGCAAATCATATACCTGATAAAATCTTATAGCCAGAATATATTTTTTTAATTTTCATAATTCAATAAAATAAAGACAAATAATTTTAAAATGATCAGGCCATGCATAGTGGCTCACACCTGTAAGCCCAGCACTTTGGGAGCCCGAGGTAGGAAGATCACTTGAGCTCAGGAGTTCCAGACCAGCCTGGATGATTTGGTGAAACTCCGTCTCTATAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACTTGTAGTCCCAGCTTCTT... | pathogenic | 84,492 |
Considering the variant on chromosome 4, location 102664714, involving gene MANBA (mannosidase beta), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Beta-D-mannosidosis'] | AAAATATGGAGTTGTTCCTTTGGCCATATACATGTGAATCTACAAGAAAGGTGATGTAGACATCAGGGAAATGCATCTGGTTCAAAAAGGAATGCCCCACAAACGTTAATGTGGGAAAACCAGAGGAGTCTACTGTGCTACCCAGCATGCTGTTGGCACTGTTGTAAACAAACAAGTGCAAGATTGTTGCCAAGATAATTAATGTGTTGAGCATATTAAGCACTCTAGGAGCCAAGATAGCTCCCCAAAACTCAAGAAGGAAACAAAGGAAAAGAAAAAGAAGGAAGCCAAAGAGAAAGGAGCCTGAGTTCAATGGAAGC... | AAAATATGGAGTTGTTCCTTTGGCCATATACATGTGAATCTACAAGAAAGGTGATGTAGACATCAGGGAAATGCATCTGGTTCAAAAAGGAATGCCCCACAAACGTTAATGTGGGAAAACCAGAGGAGTCTACTGTGCTACCCAGCATGCTGTTGGCACTGTTGTAAACAAACAAGTGCAAGATTGTTGCCAAGATAATTAATGTGTTGAGCATATTAAGCACTCTAGGAGCCAAGATAGCTCCCCAAAACTCAAGAAGGAAACAAAGGAAAAGAAAAAGAAGGAAGCCAAAGAGAAAGGAGCCTGAGTTCAATGGAAGC... | pathogenic | 84,495 |
Chromosome 4, position 102664716, gene MANBA (mannosidase beta): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Beta-D-mannosidosis'] | AATATGGAGTTGTTCCTTTGGCCATATACATGTGAATCTACAAGAAAGGTGATGTAGACATCAGGGAAATGCATCTGGTTCAAAAAGGAATGCCCCACAAACGTTAATGTGGGAAAACCAGAGGAGTCTACTGTGCTACCCAGCATGCTGTTGGCACTGTTGTAAACAAACAAGTGCAAGATTGTTGCCAAGATAATTAATGTGTTGAGCATATTAAGCACTCTAGGAGCCAAGATAGCTCCCCAAAACTCAAGAAGGAAACAAAGGAAAAGAAAAAGAAGGAAGCCAAAGAGAAAGGAGCCTGAGTTCAATGGAAGCAC... | AATATGGAGTTGTTCCTTTGGCCATATACATGTGAATCTACAAGAAAGGTGATGTAGACATCAGGGAAATGCATCTGGTTCAAAAAGGAATGCCCCACAAACGTTAATGTGGGAAAACCAGAGGAGTCTACTGTGCTACCCAGCATGCTGTTGGCACTGTTGTAAACAAACAAGTGCAAGATTGTTGCCAAGATAATTAATGTGTTGAGCATATTAAGCACTCTAGGAGCCAAGATAGCTCCCCAAAACTCAAGAAGGAAACAAAGGAAAAGAAAAAGAAGGAAGCCAAAGAGAAAGGAGCCTGAGTTCAATGGAAGCAC... | pathogenic | 84,496 |
Variant chromosome 4, position 102664735, gene MANBA (mannosidase beta): benign or pathogenic? Disease(s)? | pathogenic; ['Beta-D-mannosidosis'] | GGCCATATACATGTGAATCTACAAGAAAGGTGATGTAGACATCAGGGAAATGCATCTGGTTCAAAAAGGAATGCCCCACAAACGTTAATGTGGGAAAACCAGAGGAGTCTACTGTGCTACCCAGCATGCTGTTGGCACTGTTGTAAACAAACAAGTGCAAGATTGTTGCCAAGATAATTAATGTGTTGAGCATATTAAGCACTCTAGGAGCCAAGATAGCTCCCCAAAACTCAAGAAGGAAACAAAGGAAAAGAAAAAGAAGGAAGCCAAAGAGAAAGGAGCCTGAGTTCAATGGAAGCACAGCTGGCTCCACCCAGAGA... | GGCCATATACATGTGAATCTACAAGAAAGGTGATGTAGACATCAGGGAAATGCATCTGGTTCAAAAAGGAATGCCCCACAAACGTTAATGTGGGAAAACCAGAGGAGTCTACTGTGCTACCCAGCATGCTGTTGGCACTGTTGTAAACAAACAAGTGCAAGATTGTTGCCAAGATAATTAATGTGTTGAGCATATTAAGCACTCTAGGAGCCAAGATAGCTCCCCAAAACTCAAGAAGGAAACAAAGGAAAAGAAAAAGAAGGAAGCCAAAGAGAAAGGAGCCTGAGTTCAATGGAAGCACAGCTGGCTCCACCCAGAGA... | pathogenic | 84,497 |
Variant at chromosome 4, position 102689617, gene MANBA (mannosidase beta): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Beta-D-mannosidosis'] | TTCACGTTCTTTTCCCTCCGCCTCTTTGCTACATTACTTGGCCAAATTCTACTTATCCCTCAGGACACAGGCTCTGGGAATCTTCCCAGAATGCCCCTGCTCTGCACTTCCATGGCACTCTCTACATCTCTAGAGTGCTAATATATTCCAATGGCTCATTTAATGATTGAACTTCCCAATCAGATCATTAGTTCTACTAAGGTCTCAGAGAGAAACAGAAACAGTGTCTTAGTCACAGCTCTATCACCAGCACCTAGCAAAATAGCCAAAACACAGTAGGTGTGCCCTAAGTATTTACTGAATGAATCAGCCTCAAAAAA... | TTCACGTTCTTTTCCCTCCGCCTCTTTGCTACATTACTTGGCCAAATTCTACTTATCCCTCAGGACACAGGCTCTGGGAATCTTCCCAGAATGCCCCTGCTCTGCACTTCCATGGCACTCTCTACATCTCTAGAGTGCTAATATATTCCAATGGCTCATTTAATGATTGAACTTCCCAATCAGATCATTAGTTCTACTAAGGTCTCAGAGAGAAACAGAAACAGTGTCTTAGTCACAGCTCTATCACCAGCACCTAGCAAAATAGCCAAAACACAGTAGGTGTGCCCTAAGTATTTACTGAATGAATCAGCCTCAAAAAA... | pathogenic | 84,517 |
Clinical impact (benign or pathogenic) of the variant at chromosome 4, location 102714538, gene MANBA (mannosidase beta): what disease(s) if pathogenic? | pathogenic; ['Beta-D-mannosidosis'] | AAATAAATAAATAACTTTTTGCTAAATCGGACCACTTTTTTTTTTTTTTAAACAGCATCTCGCTCCATCACCCAGGCTGGAGTGCAGTGGTACAATCACAACTCACAGCAGCTCTACCTCCTGAGCTCAAGCGATCCTGCCACCTCAGCCTCTCGAGTAGCTGGGACTGCAGGTGAACGCCACCAGGCCTGGCTAATTTTTGTATTTTTTGTATTTTTTGTCAGAGATAGGATTTTGCCATGTTGTCTAGGTCGGTCTCTAACTCTTAGGCTCAGGGAATCCACCCACTTTGGCCTCCCAAAGTGCTGGAATTACAGGCA... | AAATAAATAAATAACTTTTTGCTAAATCGGACCACTTTTTTTTTTTTTTAAACAGCATCTCGCTCCATCACCCAGGCTGGAGTGCAGTGGTACAATCACAACTCACAGCAGCTCTACCTCCTGAGCTCAAGCGATCCTGCCACCTCAGCCTCTCGAGTAGCTGGGACTGCAGGTGAACGCCACCAGGCCTGGCTAATTTTTGTATTTTTTGTATTTTTTGTCAGAGATAGGATTTTGCCATGTTGTCTAGGTCGGTCTCTAACTCTTAGGCTCAGGGAATCCACCCACTTTGGCCTCCCAAAGTGCTGGAATTACAGGCA... | pathogenic | 84,529 |
The mutation in gene MANBA (mannosidase beta) at chromosome 4, position 102726648—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Beta-D-mannosidosis', 'MANBA-related_disorder'] | AACTACATTTACTGACCCTGTCTAAGAGAACACGTTAGAAAACTATCATCTATAAGTGAATATTATGCACCCAGCACTCTGCTAAGCCTTACAGGAAACTATAACAGTGCCTGTACTTAAGGAGTCTGCAATCTGGTTGGCATTTGGTGGCTGGCTGGCAATATTGTTGAACAACTACAAGTGCTATCAGAGTTTATCTCATAAGAAAAGATTTCAAAATGGAAACAAGAACTTAATGAAGAGAAGAATAAATAAAATGTGTTGTATTCATACAATAAAATACTATTCAACAATAAAAAGGAATGAAGTACTGATACATG... | AACTACATTTACTGACCCTGTCTAAGAGAACACGTTAGAAAACTATCATCTATAAGTGAATATTATGCACCCAGCACTCTGCTAAGCCTTACAGGAAACTATAACAGTGCCTGTACTTAAGGAGTCTGCAATCTGGTTGGCATTTGGTGGCTGGCTGGCAATATTGTTGAACAACTACAAGTGCTATCAGAGTTTATCTCATAAGAAAAGATTTCAAAATGGAAACAAGAACTTAATGAAGAGAAGAATAAATAAAATGTGTTGTATTCATACAATAAAATACTATTCAACAATAAAAAGGAATGAAGTACTGATACATG... | pathogenic | 84,539 |
Does the variant on chromosome 4 at location 105233833 affecting gene TET2 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | ACACCTTATACAATGGATTAATTTTTTTAGTGCCATTTCTTCTGGCTTTCTCTATTATTGGGACTCTGAAATCTTCGTTAGTACTACTCTCAAAAATGTTCGAATGAATGCAATCAGATTCAAGGGTACAAGTGCAGGTTATATAGGTGAATTGCATGCCTTGGGGGTTTGGTGTACAGACTATTTTGTCACCCAGGTAATAAGCGTAGTACTTAATAGGTAGTTTTTTGATCCTCTCCCTTCTCCCATCCTCAAAGTATCCCTGCTGTCTGTTGTTCCCCCTCTTTGTGTCCATGTGTTCTTGCTGTTTAGCTGCCACT... | ACACCTTATACAATGGATTAATTTTTTTAGTGCCATTTCTTCTGGCTTTCTCTATTATTGGGACTCTGAAATCTTCGTTAGTACTACTCTCAAAAATGTTCGAATGAATGCAATCAGATTCAAGGGTACAAGTGCAGGTTATATAGGTGAATTGCATGCCTTGGGGGTTTGGTGTACAGACTATTTTGTCACCCAGGTAATAAGCGTAGTACTTAATAGGTAGTTTTTTGATCCTCTCCCTTCTCCCATCCTCAAAGTATCCCTGCTGTCTGTTGTTCCCCCTCTTTGTGTCCATGTGTTCTTGCTGTTTAGCTGCCACT... | benign | 84,631 |
Determine if the mutation at chromosome 4, position 105396341 in gene PPA2 (inorganic pyrophosphatase 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GAACCTGGGAGGCAGAGGCTGCAGTGGGCCGAGATTGCACCACTGCACTCCAACTTGGGCAATAGAGCAAGATTCCATTTCAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAGAGAGTAAGGTTTAAATCCTGGCTCCACAATGCATTGTGTGACCTTAGGTAAGTTACCTAAATCTTTATGTGGACTCAATTTCTTCATGTGTAAAATGGAGATAACAATACATATTTTATAGGATTCTTGAGTATTAATTACATAACATATATAAATCACTCAGAACGTGGAACATAGTATAGAGTTAATAAATGTTAACTCTTACTG... | GAACCTGGGAGGCAGAGGCTGCAGTGGGCCGAGATTGCACCACTGCACTCCAACTTGGGCAATAGAGCAAGATTCCATTTCAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAGAGAGTAAGGTTTAAATCCTGGCTCCACAATGCATTGTGTGACCTTAGGTAAGTTACCTAAATCTTTATGTGGACTCAATTTCTTCATGTGTAAAATGGAGATAACAATACATATTTTATAGGATTCTTGAGTATTAATTACATAACATATATAAATCACTCAGAACGTGGAACATAGTATAGAGTTAATAAATGTTAACTCTTACTG... | benign | 84,737 |
The mutation impacting PPA2 (inorganic pyrophosphatase 2) on chromosome 4 at position 105473998: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGCACTCTAGTTACAGAAAAATCATGAGTCCTAAGTACATTTGCAGCTAAAGAAACAAACCAACAATAAGAGGCCAACATACTCCCAAAAATGCCCCCATTCGACATCCTGTCTTAACAGAGACTGTTAGAATCTCCGTTATTCATCCAATGCCTTCAGGGAATACCAGTGCTGAGAAGGACCTTGAGGATCATCGTTTCAAGGTCAAAAGCTTCATTTTACAGCTGAAGAAACTGGCTCTGTGAGAAAGAACTGAAGTAACCACCCACCCAACAGCACACAGCGAGTTAACGGCAGAGCCAAGATTATGGCCTAGGACT... | GGCACTCTAGTTACAGAAAAATCATGAGTCCTAAGTACATTTGCAGCTAAAGAAACAAACCAACAATAAGAGGCCAACATACTCCCAAAAATGCCCCCATTCGACATCCTGTCTTAACAGAGACTGTTAGAATCTCCGTTATTCATCCAATGCCTTCAGGGAATACCAGTGCTGAGAAGGACCTTGAGGATCATCGTTTCAAGGTCAAAAGCTTCATTTTACAGCTGAAGAAACTGGCTCTGTGAGAAAGAACTGAAGTAACCACCCACCCAACAGCACACAGCGAGTTAACGGCAGAGCCAAGATTATGGCCTAGGACT... | benign | 84,774 |
Variant on chromosome 4, at position 106116361, affecting TBCK (TBC1 domain containing kinase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3', 'TBCK-related_disorder'] | GGACCTTGAGAGCAAAGGTTAGATAGCAAAGAGATATAAAGGAATTGATCTAGGTAAGTTAGTTTAACTTGGAACCTGGCCTTTAATCATCCCCATGCATGACTGCTATCTCCGGGCAGGGTGACTATGTTAATTACGCAAAAGTGTGTTGACTCAAAGCCTTTGTCATTAAATCTGTAACTAAATAAATGCCTGCAGCACCAGCTTGTCAGGGCTACAGCTGCTGACTCTTTACAGCACCCTGCTCGGGGTCTATAAGCAGCCAGGTCCTCTAGCCCGCTTTTTCACTGGATACCTGCGTCTGACTGCATTCTTACATC... | GGACCTTGAGAGCAAAGGTTAGATAGCAAAGAGATATAAAGGAATTGATCTAGGTAAGTTAGTTTAACTTGGAACCTGGCCTTTAATCATCCCCATGCATGACTGCTATCTCCGGGCAGGGTGACTATGTTAATTACGCAAAAGTGTGTTGACTCAAAGCCTTTGTCATTAAATCTGTAACTAAATAAATGCCTGCAGCACCAGCTTGTCAGGGCTACAGCTGCTGACTCTTTACAGCACCCTGCTCGGGGTCTATAAGCAGCCAGGTCCTCTAGCCCGCTTTTTCACTGGATACCTGCGTCTGACTGCATTCTTACATC... | pathogenic | 84,782 |
Determine if the mutation at chromosome 4, position 106171175 in gene TBCK (TBC1 domain containing kinase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3'] | AACAGTTCTTCCCAAATTGATATGTAGATTCAATGTAATCCCAATCAAAATAGCAGCAAGTTATTTTGTAGGTATCAACAAACTAATTTTAAAGTTTATTTGGAAACAAAGACTCAGAATAACCAACACAGTATTAAAAAGAACAGTTGGAGGACTGACACTTCTGAGCTTCAAGACAAATTATAAATCAAAACAGCATAGTATTGGCAAAAGAACAGACAAACATCAATGAAAAAGAATAGAGAGTTCAGAAATCAACCCACATAAATACAACCAACTAATCTGTGAAAGGAACAAAGGCAATAAAATGGAAAAGTCAG... | AACAGTTCTTCCCAAATTGATATGTAGATTCAATGTAATCCCAATCAAAATAGCAGCAAGTTATTTTGTAGGTATCAACAAACTAATTTTAAAGTTTATTTGGAAACAAAGACTCAGAATAACCAACACAGTATTAAAAAGAACAGTTGGAGGACTGACACTTCTGAGCTTCAAGACAAATTATAAATCAAAACAGCATAGTATTGGCAAAAGAACAGACAAACATCAATGAAAAAGAATAGAGAGTTCAGAAATCAACCCACATAAATACAACCAACTAATCTGTGAAAGGAACAAAGGCAATAAAATGGAAAAGTCAG... | pathogenic | 84,785 |
Regarding the variant found on chromosome 4 at position 106171238 in gene TBCK (TBC1 domain containing kinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3', 'Inborn_genetic_diseases'] | TTTTGTAGGTATCAACAAACTAATTTTAAAGTTTATTTGGAAACAAAGACTCAGAATAACCAACACAGTATTAAAAAGAACAGTTGGAGGACTGACACTTCTGAGCTTCAAGACAAATTATAAATCAAAACAGCATAGTATTGGCAAAAGAACAGACAAACATCAATGAAAAAGAATAGAGAGTTCAGAAATCAACCCACATAAATACAACCAACTAATCTGTGAAAGGAACAAAGGCAATAAAATGGAAAAGTCAGTCTTTTTAACAAATGTTTTTCTGCTATAAAGAGGATATAATTCAAAATTTGAAACAAAGAAAC... | TTTTGTAGGTATCAACAAACTAATTTTAAAGTTTATTTGGAAACAAAGACTCAGAATAACCAACACAGTATTAAAAAGAACAGTTGGAGGACTGACACTTCTGAGCTTCAAGACAAATTATAAATCAAAACAGCATAGTATTGGCAAAAGAACAGACAAACATCAATGAAAAAGAATAGAGAGTTCAGAAATCAACCCACATAAATACAACCAACTAATCTGTGAAAGGAACAAAGGCAATAAAATGGAAAAGTCAGTCTTTTTAACAAATGTTTTTCTGCTATAAAGAGGATATAATTCAAAATTTGAAACAAAGAAAC... | pathogenic | 84,786 |
Clinically, how would you classify the variant at chromosome 4, position 106193619, gene TBCK (TBC1 domain containing kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3'] | GTTCATCCAGTTAAGTGCTTTAATAGGACCTATCATCAATGCATTGAGATGTTAGGAGCAGGGATGCTGGGACTGAATTTAAGAGTTATTAATATAAGATGAAATATCTTGGGTCTTTGCATGTAGGATAACCTATTTATAAGCAAAACAGATTAATTATTTCATGGAAAGATGAATTTGCAGTAAGAGCAATTAAGCAAAGAAACCCAATTGTACCAGCTGACACTACATCAACTAAATAGATTTCATTCCTATTTGAATAGCATGCTCTGAACAACATGAGTGTTTAATAAGGTTTGACAGATGTTATGATATAGTGA... | GTTCATCCAGTTAAGTGCTTTAATAGGACCTATCATCAATGCATTGAGATGTTAGGAGCAGGGATGCTGGGACTGAATTTAAGAGTTATTAATATAAGATGAAATATCTTGGGTCTTTGCATGTAGGATAACCTATTTATAAGCAAAACAGATTAATTATTTCATGGAAAGATGAATTTGCAGTAAGAGCAATTAAGCAAAGAAACCCAATTGTACCAGCTGACACTACATCAACTAAATAGATTTCATTCCTATTTGAATAGCATGCTCTGAACAACATGAGTGTTTAATAAGGTTTGACAGATGTTATGATATAGTGA... | pathogenic | 84,788 |
Does the genetic variant at chromosome 4, position 106193642, impacting gene TBCK (TBC1 domain containing kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3'] | TAGGACCTATCATCAATGCATTGAGATGTTAGGAGCAGGGATGCTGGGACTGAATTTAAGAGTTATTAATATAAGATGAAATATCTTGGGTCTTTGCATGTAGGATAACCTATTTATAAGCAAAACAGATTAATTATTTCATGGAAAGATGAATTTGCAGTAAGAGCAATTAAGCAAAGAAACCCAATTGTACCAGCTGACACTACATCAACTAAATAGATTTCATTCCTATTTGAATAGCATGCTCTGAACAACATGAGTGTTTAATAAGGTTTGACAGATGTTATGATATAGTGACTAGAAAGGATAAAATTACCAGA... | TAGGACCTATCATCAATGCATTGAGATGTTAGGAGCAGGGATGCTGGGACTGAATTTAAGAGTTATTAATATAAGATGAAATATCTTGGGTCTTTGCATGTAGGATAACCTATTTATAAGCAAAACAGATTAATTATTTCATGGAAAGATGAATTTGCAGTAAGAGCAATTAAGCAAAGAAACCCAATTGTACCAGCTGACACTACATCAACTAAATAGATTTCATTCCTATTTGAATAGCATGCTCTGAACAACATGAGTGTTTAATAAGGTTTGACAGATGTTATGATATAGTGACTAGAAAGGATAAAATTACCAGA... | pathogenic | 84,789 |
Variant in gene TBCK (TBC1 domain containing kinase), located at chromosome 4 position 106235347: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3'] | GTGTTAATATACTTTTCAAAAATATTTTCCTTTATAATCTGGTCCAAATGAAGGGCAAATTTTTCAGATGAAGAACTACAGTATTTTTAAAAAGGTAACTTGACCTAAAGTCCTTTAAGGTATTGTTCTTACTAATTTATAAGCATAAGAGTTATGGTTTCTCTAACAATATATGTATGCAGCAGTGTCTCTGTATTCATGAGAGAAAGAGGCTTTCTTCATGCTCCTTCCTAAAATTTAAATATTTGGCAGAATTATCTTAGGTTGCTTAAGAAAACCTAAATCATACTTGTCTATCTGTAGGAATTGGAGTGTCTTTA... | GTGTTAATATACTTTTCAAAAATATTTTCCTTTATAATCTGGTCCAAATGAAGGGCAAATTTTTCAGATGAAGAACTACAGTATTTTTAAAAAGGTAACTTGACCTAAAGTCCTTTAAGGTATTGTTCTTACTAATTTATAAGCATAAGAGTTATGGTTTCTCTAACAATATATGTATGCAGCAGTGTCTCTGTATTCATGAGAGAAAGAGGCTTTCTTCATGCTCCTTCCTAAAATTTAAATATTTGGCAGAATTATCTTAGGTTGCTTAAGAAAACCTAAATCATACTTGTCTATCTGTAGGAATTGGAGTGTCTTTA... | pathogenic | 84,806 |
Determine if the mutation at chromosome 4, position 106235347 in gene TBCK (TBC1 domain containing kinase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3'] | GTGTTAATATACTTTTCAAAAATATTTTCCTTTATAATCTGGTCCAAATGAAGGGCAAATTTTTCAGATGAAGAACTACAGTATTTTTAAAAAGGTAACTTGACCTAAAGTCCTTTAAGGTATTGTTCTTACTAATTTATAAGCATAAGAGTTATGGTTTCTCTAACAATATATGTATGCAGCAGTGTCTCTGTATTCATGAGAGAAAGAGGCTTTCTTCATGCTCCTTCCTAAAATTTAAATATTTGGCAGAATTATCTTAGGTTGCTTAAGAAAACCTAAATCATACTTGTCTATCTGTAGGAATTGGAGTGTCTTTA... | GTGTTAATATACTTTTCAAAAATATTTTCCTTTATAATCTGGTCCAAATGAAGGGCAAATTTTTCAGATGAAGAACTACAGTATTTTTAAAAAGGTAACTTGACCTAAAGTCCTTTAAGGTATTGTTCTTACTAATTTATAAGCATAAGAGTTATGGTTTCTCTAACAATATATGTATGCAGCAGTGTCTCTGTATTCATGAGAGAAAGAGGCTTTCTTCATGCTCCTTCCTAAAATTTAAATATTTGGCAGAATTATCTTAGGTTGCTTAAGAAAACCTAAATCATACTTGTCTATCTGTAGGAATTGGAGTGTCTTTA... | pathogenic | 84,807 |
Benign or pathogenic: chromosome 4, position 106236449, gene TBCK (TBC1 domain containing kinase) variant? Disease(s) if pathogenic? | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3'] | ATTCTTCAAACAGAGGATTGAAAAGGATTAAAAATAGTTGAGGATTTCTAAAAATTTTTTAGAGTCAGGGTCTAGTTCTATCACCCAGGCTAGAGTGCAGTGGCACAACCAAGGTTCACTGCAGCCTCGAACTCCTGGGCTCAAGTAATCCTTCTGCCTCAGCTTTCCAAGAAGCTGGGACCACAGGCATGTGCCACCATTCCAGACTGGAATTCTTTAAAAAGGAAGGATAATTATCTATAAGAGAATATAAGAAGACAAGATGACAAAGAAATTGACAAGAAATGAAAAAAATCTGGCAAGAATTTGGCCCATTATTA... | ATTCTTCAAACAGAGGATTGAAAAGGATTAAAAATAGTTGAGGATTTCTAAAAATTTTTTAGAGTCAGGGTCTAGTTCTATCACCCAGGCTAGAGTGCAGTGGCACAACCAAGGTTCACTGCAGCCTCGAACTCCTGGGCTCAAGTAATCCTTCTGCCTCAGCTTTCCAAGAAGCTGGGACCACAGGCATGTGCCACCATTCCAGACTGGAATTCTTTAAAAAGGAAGGATAATTATCTATAAGAGAATATAAGAAGACAAGATGACAAAGAAATTGACAAGAAATGAAAAAAATCTGGCAAGAATTTGGCCCATTATTA... | pathogenic | 84,810 |
Clinical classification of chromosome 4, position 106244637, gene TBCK (TBC1 domain containing kinase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3'] | AATAATATGTACACAAAATCCAGTTTATTGTTTCTTCTAGAAAGTAAAGTTTATTCTAAGTCATCAATCCCTTCATCAAAAAAGAATTAAACTTTAGACTGGATGTTTAATAAAACAATGTTTTTTTAATTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCGTGCTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAAAGCTATCCCTCCCCCTCCCCCCACCCCACAACAGTCCCCAGAGTGTGATGTTACCCTTCCT... | AATAATATGTACACAAAATCCAGTTTATTGTTTCTTCTAGAAAGTAAAGTTTATTCTAAGTCATCAATCCCTTCATCAAAAAAGAATTAAACTTTAGACTGGATGTTTAATAAAACAATGTTTTTTTAATTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCGTGCTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAAAGCTATCCCTCCCCCTCCCCCCACCCCACAACAGTCCCCAGAGTGTGATGTTACCCTTCCT... | pathogenic | 84,818 |
Evaluate the clinical significance of the mutation at chromosome 4, position 106247263 in gene TBCK (TBC1 domain containing kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3'] | GAGTCTGGAGACTGACAAGGTTCTCACAGTAAATATTGGAGGAAAATGCCCTTATGTTTCCAGCAGTGGCAGAGGAAATGTAACCATTCTGAAATACAATGAGCACTGTTCTTAACAAGGTCTGTCTTCAGGATAAACCGGTTAGTCAGAGGCTAACTCACTTAGATAATATCAGAGCCTAACTGACCTGGAGAGGGGAAATACCAAAATGCAGCCAGCTCTAGCCTTCTATGTGGTGGTTAAGGTATGGGGAACAGAAGCATTCTGTAGTCAGTCCTACAATTTAGGTCTCAATCTTTAAGTGAGCCAGTCACTCTAGA... | GAGTCTGGAGACTGACAAGGTTCTCACAGTAAATATTGGAGGAAAATGCCCTTATGTTTCCAGCAGTGGCAGAGGAAATGTAACCATTCTGAAATACAATGAGCACTGTTCTTAACAAGGTCTGTCTTCAGGATAAACCGGTTAGTCAGAGGCTAACTCACTTAGATAATATCAGAGCCTAACTGACCTGGAGAGGGGAAATACCAAAATGCAGCCAGCTCTAGCCTTCTATGTGGTGGTTAAGGTATGGGGAACAGAAGCATTCTGTAGTCAGTCCTACAATTTAGGTCTCAATCTTTAAGTGAGCCAGTCACTCTAGA... | pathogenic | 84,822 |
Determine if the mutation at chromosome 4, position 106248273 in gene TBCK (TBC1 domain containing kinase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3'] | GTCTGCCTTCCCATTTGGCATGAATGTTACTTAAAGATACAGTATGTGACACATACCAGGAACTCAATAAATGTTTAATTGAATGAATGTTTAGTAACCATTTTCTGCTATGACTTAAGTCATAACAACTTTTCAGAATAAAGGTAACTGGTGTCACTAAACCTTACATTCCAAGAGTCGTAATCTTCACACAAGAATTAAAAGTCTAAAAGCTGATATTCTCTTCAATATGCAGAATATAATGATATATAATTCTTATCAATAATATTATTTTTAGAGATCATTTATAAATAAATTATATAGAATATCAGTAACTTAAA... | GTCTGCCTTCCCATTTGGCATGAATGTTACTTAAAGATACAGTATGTGACACATACCAGGAACTCAATAAATGTTTAATTGAATGAATGTTTAGTAACCATTTTCTGCTATGACTTAAGTCATAACAACTTTTCAGAATAAAGGTAACTGGTGTCACTAAACCTTACATTCCAAGAGTCGTAATCTTCACACAAGAATTAAAAGTCTAAAAGCTGATATTCTCTTCAATATGCAGAATATAATGATATATAATTCTTATCAATAATATTATTTTTAGAGATCATTTATAAATAAATTATATAGAATATCAGTAACTTAAA... | pathogenic | 84,827 |
Variant in TBCK (TBC1 domain containing kinase), chromosome 4, position 106248288—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3', 'TBCK-related_disorder'] | TGGCATGAATGTTACTTAAAGATACAGTATGTGACACATACCAGGAACTCAATAAATGTTTAATTGAATGAATGTTTAGTAACCATTTTCTGCTATGACTTAAGTCATAACAACTTTTCAGAATAAAGGTAACTGGTGTCACTAAACCTTACATTCCAAGAGTCGTAATCTTCACACAAGAATTAAAAGTCTAAAAGCTGATATTCTCTTCAATATGCAGAATATAATGATATATAATTCTTATCAATAATATTATTTTTAGAGATCATTTATAAATAAATTATATAGAATATCAGTAACTTAAATAGAAAGGATAAACT... | TGGCATGAATGTTACTTAAAGATACAGTATGTGACACATACCAGGAACTCAATAAATGTTTAATTGAATGAATGTTTAGTAACCATTTTCTGCTATGACTTAAGTCATAACAACTTTTCAGAATAAAGGTAACTGGTGTCACTAAACCTTACATTCCAAGAGTCGTAATCTTCACACAAGAATTAAAAGTCTAAAAGCTGATATTCTCTTCAATATGCAGAATATAATGATATATAATTCTTATCAATAATATTATTTTTAGAGATCATTTATAAATAAATTATATAGAATATCAGTAACTTAAATAGAAAGGATAAACT... | pathogenic | 84,828 |
Considering the genetic mutation at chromosome 4, position 106250480, impacting TBCK (TBC1 domain containing kinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTAGTCACTGTGAAAAAGCAAATACTTAAAGAGAAATAAGCATTGCTTTAAAATAGCTTCCAACTGGATCCCAAGTGTGTAAAATAAATTTTCATTCACAGATTGCTATGGTTTGAATGTGTTCCCTCCAAAGTTTAGGCTTCATGAACTTTGAAACTTAATGGCCAATGTGATGGTATTAAGAGGTGAGGCCTTTAAGAAGTAATTAGGTCATAAGGGCTCTTCCCCTGGTGAATGGCATTAAGAGGCTTATAAAGGTGAGACCTCACATAGCAATTGCCTAGCTTGCCCTTCTGCCTTGTAAGGACAGTGTTTCTCTC... | TTAGTCACTGTGAAAAAGCAAATACTTAAAGAGAAATAAGCATTGCTTTAAAATAGCTTCCAACTGGATCCCAAGTGTGTAAAATAAATTTTCATTCACAGATTGCTATGGTTTGAATGTGTTCCCTCCAAAGTTTAGGCTTCATGAACTTTGAAACTTAATGGCCAATGTGATGGTATTAAGAGGTGAGGCCTTTAAGAAGTAATTAGGTCATAAGGGCTCTTCCCCTGGTGAATGGCATTAAGAGGCTTATAAAGGTGAGACCTCACATAGCAATTGCCTAGCTTGCCCTTCTGCCTTGTAAGGACAGTGTTTCTCTC... | benign | 84,833 |
Clinical classification of chromosome 4, position 106251894, gene TBCK (TBC1 domain containing kinase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3'] | TAATCTGTCACTCTTTTGCATAAAGTGTTCTATCACTGTTTTTCTCTCCTTAATTACCAAACATGCTTAATTAATTCCACTCCAAAGTAGATTACATAAATTTTTATTAATTTGAATTATACATGTTTGGATCCACATACATGAAAATTCATATGAGCCTTTTATAAGGAAAAATCAATATTCTTCTTGAGTTGTTATTTGTACATGATTCATCAAATAGAAAGATAGCCCAAAAGTTAAGATACATTGTCTGAAGGTAAACTGCTACAGAAATACAATTTTATATTCTCATTTTGATTTCACAAGTTAATTTACTTGGC... | TAATCTGTCACTCTTTTGCATAAAGTGTTCTATCACTGTTTTTCTCTCCTTAATTACCAAACATGCTTAATTAATTCCACTCCAAAGTAGATTACATAAATTTTTATTAATTTGAATTATACATGTTTGGATCCACATACATGAAAATTCATATGAGCCTTTTATAAGGAAAAATCAATATTCTTCTTGAGTTGTTATTTGTACATGATTCATCAAATAGAAAGATAGCCCAAAAGTTAAGATACATTGTCTGAAGGTAAACTGCTACAGAAATACAATTTTATATTCTCATTTTGATTTCACAAGTTAATTTACTTGGC... | pathogenic | 84,836 |
Does the variant impacting TBCK (TBC1 domain containing kinase) on chromosome 4, position 106251931, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3'] | GTTTTTCTCTCCTTAATTACCAAACATGCTTAATTAATTCCACTCCAAAGTAGATTACATAAATTTTTATTAATTTGAATTATACATGTTTGGATCCACATACATGAAAATTCATATGAGCCTTTTATAAGGAAAAATCAATATTCTTCTTGAGTTGTTATTTGTACATGATTCATCAAATAGAAAGATAGCCCAAAAGTTAAGATACATTGTCTGAAGGTAAACTGCTACAGAAATACAATTTTATATTCTCATTTTGATTTCACAAGTTAATTTACTTGGCTAGATAATAAAGCTGAGATTATTTCCATCTAGGTTAA... | GTTTTTCTCTCCTTAATTACCAAACATGCTTAATTAATTCCACTCCAAAGTAGATTACATAAATTTTTATTAATTTGAATTATACATGTTTGGATCCACATACATGAAAATTCATATGAGCCTTTTATAAGGAAAAATCAATATTCTTCTTGAGTTGTTATTTGTACATGATTCATCAAATAGAAAGATAGCCCAAAAGTTAAGATACATTGTCTGAAGGTAAACTGCTACAGAAATACAATTTTATATTCTCATTTTGATTTCACAAGTTAATTTACTTGGCTAGATAATAAAGCTGAGATTATTTCCATCTAGGTTAA... | pathogenic | 84,837 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 106295083, gene TBCK (TBC1 domain containing kinase). What disease(s) is it linked to if pathogenic? | benign | TTCAAAAGAGTTTAAGCATTACTTCCCAACCACAAAGGACCCCTGAATGGGAAGGAATAGATCCGCAACCCATTTGTGAATAAACCAGGTGAATTGACTTCATCTGTGCTAGAAGAGGATCAACTAGACAATATCAAATCTCCATACATTCTAGATTAAAGTCAAGACAGAATATCCCAAGATTGGCACAAAATCACTCCTTTTCAGCCTGCTTCCATTTCCAACATCCTATCTTTGTGAAGCAGGGTTTTCTGCAGTGACAGCAACCAAAACGAGATTACAGAGCAGAATGAACATAAGCAACAGACTTTGGGTGTCAC... | TTCAAAAGAGTTTAAGCATTACTTCCCAACCACAAAGGACCCCTGAATGGGAAGGAATAGATCCGCAACCCATTTGTGAATAAACCAGGTGAATTGACTTCATCTGTGCTAGAAGAGGATCAACTAGACAATATCAAATCTCCATACATTCTAGATTAAAGTCAAGACAGAATATCCCAAGATTGGCACAAAATCACTCCTTTTCAGCCTGCTTCCATTTCCAACATCCTATCTTTGTGAAGCAGGGTTTTCTGCAGTGACAGCAACCAAAACGAGATTACAGAGCAGAATGAACATAAGCAACAGACTTTGGGTGTCAC... | benign | 84,847 |
Clinical classification of chromosome 4, position 106308771, gene TBCK (TBC1 domain containing kinase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3'] | AAGCTAGGTTTCTATCAGCTCTGACTTCCCAATTTGTTCCCTACAGAGAGAGACCCTTAAGGCCTCAACATGGCACCACCCATGCTCTTGCTTGAGGGATTAAGCCAAACATGACAGGCATTTACTAATATTTGCAGAATCAATCAATCAAAGTCAACCTTGAACAGTAAAAGAAGTCTCAATAAAATAATGTATACTTTAACATGTCTGTGTGTATATACCTATATGTCAATATGAAAAAACAAATTTTTTTTTATCATCTGCTAGACAATTAACTTTTTTTACCACTCTCTTTCCCAAATCTCTCACGAAGCCTCCTG... | AAGCTAGGTTTCTATCAGCTCTGACTTCCCAATTTGTTCCCTACAGAGAGAGACCCTTAAGGCCTCAACATGGCACCACCCATGCTCTTGCTTGAGGGATTAAGCCAAACATGACAGGCATTTACTAATATTTGCAGAATCAATCAATCAAAGTCAACCTTGAACAGTAAAAGAAGTCTCAATAAAATAATGTATACTTTAACATGTCTGTGTGTATATACCTATATGTCAATATGAAAAAACAAATTTTTTTTTATCATCTGCTAGACAATTAACTTTTTTTACCACTCTCTTTCCCAAATCTCTCACGAAGCCTCCTG... | pathogenic | 84,853 |
Gene AIMP1 (aminoacyl tRNA synthetase complex interacting multifunctional protein 1) variant at chromosome 4, position 106328209—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic | TCTACTCTTGATTTATGTGGTACTTGATTCATAGAAAATTTAGGGTATAATAAGCATGCTTAAAAACACTTTGTGTTTATATATAAAGAATAGTTAAAAATCTAGACTCAAATAATTATTAATAGGATTTTTACTTATACAAATTTATGATAGGCCACTATAAAGTTCTGCAGGATGTGAAACAGTTCTTCATTTTGCAGGAGTATCCAGCATACTGCAGGACATCTGACATTCTTGGCTTCTGCCCAATAAATGCCAGTACTAACAATCAAAAATAATCCTACAGATTTTCAAAATCCTACCTACAAAGCAGTACCAAC... | TCTACTCTTGATTTATGTGGTACTTGATTCATAGAAAATTTAGGGTATAATAAGCATGCTTAAAAACACTTTGTGTTTATATATAAAGAATAGTTAAAAATCTAGACTCAAATAATTATTAATAGGATTTTTACTTATACAAATTTATGATAGGCCACTATAAAGTTCTGCAGGATGTGAAACAGTTCTTCATTTTGCAGGAGTATCCAGCATACTGCAGGACATCTGACATTCTTGGCTTCTGCCCAATAAATGCCAGTACTAACAATCAAAAATAATCCTACAGATTTTCAAAATCCTACCTACAAAGCAGTACCAAC... | pathogenic | 84,872 |
Regarding the variant at chromosome 4 and position 107932112, affecting gene CYP2U1: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_spastic_paraplegia_56', 'Spastic_paraplegia'] | TACTGTTTCAGAGAGCAAAGCCCTAGAATCAGATGACATCCAGAATGTCATGTTGAAGATCGTATCTGCAAACAAGTAGTTTAAATTTTTAAAAACTTCTCTTAATTCAAAAATTCAAAAAAAATGAGAAAAGTAATCTCACAAGTAGTGGTTAATTATAGAAGATGAGAGGTGTGGAGGTTTTTTTTTTTTGTTTGGGGTGCATAAGCTTAAAATAACATGAAAAGCATGTCAAAAAGAATATGAGAACAGAGTGGACTTGAAATTTAACATATCCTACTGGCATCACTTGTTTATAGAAAAATAAAATGGATCATGTA... | TACTGTTTCAGAGAGCAAAGCCCTAGAATCAGATGACATCCAGAATGTCATGTTGAAGATCGTATCTGCAAACAAGTAGTTTAAATTTTTAAAAACTTCTCTTAATTCAAAAATTCAAAAAAAATGAGAAAAGTAATCTCACAAGTAGTGGTTAATTATAGAAGATGAGAGGTGTGGAGGTTTTTTTTTTTTGTTTGGGGTGCATAAGCTTAAAATAACATGAAAAGCATGTCAAAAAGAATATGAGAACAGAGTGGACTTGAAATTTAACATATCCTACTGGCATCACTTGTTTATAGAAAAATAAAATGGATCATGTA... | pathogenic | 84,898 |
Clinical impact (benign or pathogenic) of the variant at chromosome 4, location 107945017, gene CYP2U1 (cytochrome P450 family 2 subfamily U member 1): what disease(s) if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia_56', 'Spastic_paraplegia'] | TTAGAAACTTAAAAAATCAGATGATAAAAGATCTGCTATGCATTTCAAATATATAAGAAAAAGAAAATTGCACAGTAGATAAATGCAAATTACAGAATAGGAAATCTGGCCAATAACCGTATAAAAAGCTGCTCTGACCCACTGGTAACAATCAGAGAAATGCAAATAAAAATCGATGAGATACGTTTCAGCCTTCTGATTGACAAAACTAAAACATTGACAAGTATCAAGTGATGGCAACTATTCTGAACAAATGAGAACATTTAAACACTTCTGTGAACACGCTTTCAGAGTACTCTCCAATTCAGAGAGTAAACTGC... | TTAGAAACTTAAAAAATCAGATGATAAAAGATCTGCTATGCATTTCAAATATATAAGAAAAAGAAAATTGCACAGTAGATAAATGCAAATTACAGAATAGGAAATCTGGCCAATAACCGTATAAAAAGCTGCTCTGACCCACTGGTAACAATCAGAGAAATGCAAATAAAAATCGATGAGATACGTTTCAGCCTTCTGATTGACAAAACTAAAACATTGACAAGTATCAAGTGATGGCAACTATTCTGAACAAATGAGAACATTTAAACACTTCTGTGAACACGCTTTCAGAGTACTCTCCAATTCAGAGAGTAAACTGC... | pathogenic | 84,903 |
Chromosome 4, position 107947398, gene CYP2U1 (cytochrome P450 family 2 subfamily U member 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['CYP2U1-related_disorder', 'Spastic_paraplegia'] | GAAAAGGATATAACCAGTTTCCTTAAAAAAATCATCAAAGACCATCAAGAGTCTCTGGATAGAGAGAACCCTCAGGACTTCATAGACATGTACCTTCTCCACATGGAAGAGGAGAGGAAAAATAATAGTAACAGCAGTTTTGATGAAGAGTACTTATTTTATATCATTGGGGATCTCTTTATTGCTGGGACTGATACCACAACTAACTCTTTGCTCTGGTGCCTGCTGTATATGTCGCTGAACCCCGATGTACAAGGTAATTAATAGGTGTTTCCTTTGTTCATGGCAAAACCAGGTAATTTAAATGAGGATTAGCAACC... | GAAAAGGATATAACCAGTTTCCTTAAAAAAATCATCAAAGACCATCAAGAGTCTCTGGATAGAGAGAACCCTCAGGACTTCATAGACATGTACCTTCTCCACATGGAAGAGGAGAGGAAAAATAATAGTAACAGCAGTTTTGATGAAGAGTACTTATTTTATATCATTGGGGATCTCTTTATTGCTGGGACTGATACCACAACTAACTCTTTGCTCTGGTGCCTGCTGTATATGTCGCTGAACCCCGATGTACAAGGTAATTAATAGGTGTTTCCTTTGTTCATGGCAAAACCAGGTAATTTAAATGAGGATTAGCAACC... | pathogenic | 84,911 |
Evaluate this variant at chromosome 4, position 107947457, gene CYP2U1 (cytochrome P450 family 2 subfamily U member 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['CYP2U1-related_disorder', 'Hereditary_spastic_paraplegia_56', 'Inborn_genetic_diseases', 'Spastic_paraplegia'] | TAGAGAGAACCCTCAGGACTTCATAGACATGTACCTTCTCCACATGGAAGAGGAGAGGAAAAATAATAGTAACAGCAGTTTTGATGAAGAGTACTTATTTTATATCATTGGGGATCTCTTTATTGCTGGGACTGATACCACAACTAACTCTTTGCTCTGGTGCCTGCTGTATATGTCGCTGAACCCCGATGTACAAGGTAATTAATAGGTGTTTCCTTTGTTCATGGCAAAACCAGGTAATTTAAATGAGGATTAGCAACCTCAGTGATCTGGTGGCTTCTAACACTGAGCAATGTCTTCAGGCTGGCAAACAAATACTT... | TAGAGAGAACCCTCAGGACTTCATAGACATGTACCTTCTCCACATGGAAGAGGAGAGGAAAAATAATAGTAACAGCAGTTTTGATGAAGAGTACTTATTTTATATCATTGGGGATCTCTTTATTGCTGGGACTGATACCACAACTAACTCTTTGCTCTGGTGCCTGCTGTATATGTCGCTGAACCCCGATGTACAAGGTAATTAATAGGTGTTTCCTTTGTTCATGGCAAAACCAGGTAATTTAAATGAGGATTAGCAACCTCAGTGATCTGGTGGCTTCTAACACTGAGCAATGTCTTCAGGCTGGCAAACAAATACTT... | pathogenic | 84,915 |
Regarding the variant at chromosome 4 and position 108009824, affecting gene HADH (hydroxyacyl-CoA dehydrogenase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Deficiency_of_3-hydroxyacyl-CoA_dehydrogenase'] | ATCTAATATGTACCAGGCATCAGGTTATATGTTTTTCATGCATTGATTGCTCACTGTGGGTCATGGGTTGGGCACTGGGGTTTGTAAAGATGATTAAGACTTGAAGCTGCCCTTAGAAGTTGCTAACCTTGTGTCTCTAGGGTATGACTGTAAGAAATGATGGCAAGGAACCTTGCACTTTTAGATTGGGTTGATCTCTGCACATGGGTAAAATGAAAATGCTACTATAATTTGAAATCACTTGAAGTTATGCTATAGTGGTAGTTTATTGCAACACAATAAATTGTGACCTGCATCACTGACTTGAATCATTGGCTAGA... | ATCTAATATGTACCAGGCATCAGGTTATATGTTTTTCATGCATTGATTGCTCACTGTGGGTCATGGGTTGGGCACTGGGGTTTGTAAAGATGATTAAGACTTGAAGCTGCCCTTAGAAGTTGCTAACCTTGTGTCTCTAGGGTATGACTGTAAGAAATGATGGCAAGGAACCTTGCACTTTTAGATTGGGTTGATCTCTGCACATGGGTAAAATGAAAATGCTACTATAATTTGAAATCACTTGAAGTTATGCTATAGTGGTAGTTTATTGCAACACAATAAATTGTGACCTGCATCACTGACTTGAATCATTGGCTAGA... | pathogenic | 84,930 |
Evaluate if the mutation on chromosome 4 at position 109742570 in CFI (complement factor I) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Factor_I_deficiency'] | GAAAAGGAGACACAAAGAAGACAATAAATTGTCCAGGGCATAGTAGGTGATAGAGCTGGGATTTGAACCCAACCTTATGTAAGTCCAACATTATTCAATTAGTTGTAACTTCAGTCAATAAATCACTCCCGCATTGAGATAATTTAATAAAATTTTCTGATAAATAAAACTTGTATGCTTCACCAAAATATTTATTTGAGAATTATACAACAAAATTCCAATATGGCATAAACTCTGTGGAGACCTTTAAAAATATCCAGTGAGATTTGCTTCATTTTTCCCCCCTAGAGAATTATTAATTATACCGTTTTATTTCCATT... | GAAAAGGAGACACAAAGAAGACAATAAATTGTCCAGGGCATAGTAGGTGATAGAGCTGGGATTTGAACCCAACCTTATGTAAGTCCAACATTATTCAATTAGTTGTAACTTCAGTCAATAAATCACTCCCGCATTGAGATAATTTAATAAAATTTTCTGATAAATAAAACTTGTATGCTTCACCAAAATATTTATTTGAGAATTATACAACAAAATTCCAATATGGCATAAACTCTGTGGAGACCTTTAAAAATATCCAGTGAGATTTGCTTCATTTTTCCCCCCTAGAGAATTATTAATTATACCGTTTTATTTCCATT... | pathogenic | 84,974 |
Variant on chromosome 4, at position 109746350, affecting CFI (complement factor I): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Age_related_macular_degeneration_13', 'Atypical_hemolytic-uremic_syndrome_with_I_factor_anomaly', 'Factor_I_deficiency'] | GAAATTATATGACATCTGGGATATGGTTTAATATACTCCAGGAAAAATATGTGGGGGAATATGTTGAATAGCTCCTGAATGTGCCTCAGACCATTCTCCACCCTTCAATGCCGTGCATCCTGCCCTAAGAGCCTGACCTGTGGCCTCTGGTTCCCAGGTGGTTTTAGACAAAGAGGACCCTAGCAGGAGGGAGGGAAGGAAAGAGGTAGGCTAGTGAGATTGGGACTGGCTATACCCTTCAGCTCAAGATCCTTGCTTCTCTCAAGGCAGCCTGCTCTACCTGAGACTTTTTCTCCATCTAGTAACTTCTCCTACTCTTC... | GAAATTATATGACATCTGGGATATGGTTTAATATACTCCAGGAAAAATATGTGGGGGAATATGTTGAATAGCTCCTGAATGTGCCTCAGACCATTCTCCACCCTTCAATGCCGTGCATCCTGCCCTAAGAGCCTGACCTGTGGCCTCTGGTTCCCAGGTGGTTTTAGACAAAGAGGACCCTAGCAGGAGGGAGGGAAGGAAAGAGGTAGGCTAGTGAGATTGGGACTGGCTATACCCTTCAGCTCAAGATCCTTGCTTCTCTCAAGGCAGCCTGCTCTACCTGAGACTTTTTCTCCATCTAGTAACTTCTCCTACTCTTC... | pathogenic | 84,984 |
Variant in gene CFI (complement factor I), located at chromosome 4 position 109746473: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Age_related_macular_degeneration_13', 'Atypical_hemolytic-uremic_syndrome_with_I_factor_anomaly', 'CFI-related_disorder', 'Factor_I_deficiency'] | CCTAAGAGCCTGACCTGTGGCCTCTGGTTCCCAGGTGGTTTTAGACAAAGAGGACCCTAGCAGGAGGGAGGGAAGGAAAGAGGTAGGCTAGTGAGATTGGGACTGGCTATACCCTTCAGCTCAAGATCCTTGCTTCTCTCAAGGCAGCCTGCTCTACCTGAGACTTTTTCTCCATCTAGTAACTTCTCCTACTCTTCCGCTTTCAGATCCAGGAGTTAAGACAGCTCTGGTACCTCTAGTCCTGGGTACCTGCGTAGCCCCTGTGATTCCCCAACCCCCTACGTATATCTTTGTAATGAACCCTTTTATAAATAAATCTT... | CCTAAGAGCCTGACCTGTGGCCTCTGGTTCCCAGGTGGTTTTAGACAAAGAGGACCCTAGCAGGAGGGAGGGAAGGAAAGAGGTAGGCTAGTGAGATTGGGACTGGCTATACCCTTCAGCTCAAGATCCTTGCTTCTCTCAAGGCAGCCTGCTCTACCTGAGACTTTTTCTCCATCTAGTAACTTCTCCTACTCTTCCGCTTTCAGATCCAGGAGTTAAGACAGCTCTGGTACCTCTAGTCCTGGGTACCTGCGTAGCCCCTGTGATTCCCCAACCCCCTACGTATATCTTTGTAATGAACCCTTTTATAAATAAATCTT... | pathogenic | 84,988 |
Considering the variant on chromosome 4, location 109760366, involving gene CFI (complement factor I), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic | GGACTGGCACACACAGTAGCAGCTGAATAAATATTCATCAAGTAAATGAATAAATATAACTTAAAGAGATTTTTCCTCCAGAAAGCACTGATGGAAGCAAAGAGTCAGTCTGTATAGTCTAGAATAGGTACATAAGGAATATTTTTCACCATTGGAGGTTATCCAGAGCACCAACTCATTGCTTTGAAACTTGGTAAGTAAAAGGAAAAAATGAAGCATTATTCTGCCTCTCTATAGATTTCTAGTTAATAAGTGCAATAGGCATGATAAAATTAGAAATTGCCATTTTACAGCCCTATTGACAAAATGGACATAGGCAA... | GGACTGGCACACACAGTAGCAGCTGAATAAATATTCATCAAGTAAATGAATAAATATAACTTAAAGAGATTTTTCCTCCAGAAAGCACTGATGGAAGCAAAGAGTCAGTCTGTATAGTCTAGAATAGGTACATAAGGAATATTTTTCACCATTGGAGGTTATCCAGAGCACCAACTCATTGCTTTGAAACTTGGTAAGTAAAAGGAAAAAATGAAGCATTATTCTGCCTCTCTATAGATTTCTAGTTAATAAGTGCAATAGGCATGATAAAATTAGAAATTGCCATTTTACAGCCCTATTGACAAAATGGACATAGGCAA... | pathogenic | 84,998 |
Is the genetic change at chromosome 4, position 109764697, within gene CFI (complement factor I) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GCAAAAATAAAACAAGGTGAAGCCAAGATTTGTAATTATTTCAGATCATGAGGCTGTGCCATGAGAACAAACAAGAGCCATTTGAGGCAATCTTATAGGTTAATAATCTGAAAAACGTACCAACCTAAAAATATCTAAAAATACTATATAAAATGCCATCTTCTTCCTCAATGAGTTCTTAAGGAAGTAAGGGAAATCTGCACTGGTTAAAATTAGAGATGTCTGTTCATGAGCTTATGCAAAATATAAGAGCAAAATACTGAGAAATAAAATACTGAGAGAATCTACCAGTAGGTTGAACCATAAGTTGTAGGTAACAA... | GCAAAAATAAAACAAGGTGAAGCCAAGATTTGTAATTATTTCAGATCATGAGGCTGTGCCATGAGAACAAACAAGAGCCATTTGAGGCAATCTTATAGGTTAATAATCTGAAAAACGTACCAACCTAAAAATATCTAAAAATACTATATAAAATGCCATCTTCTTCCTCAATGAGTTCTTAAGGAAGTAAGGGAAATCTGCACTGGTTAAAATTAGAGATGTCTGTTCATGAGCTTATGCAAAATATAAGAGCAAAATACTGAGAAATAAAATACTGAGAGAATCTACCAGTAGGTTGAACCATAAGTTGTAGGTAACAA... | benign | 85,021 |
Considering the variant on chromosome 4, location 109764697, involving gene CFI (complement factor I), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GCAAAAATAAAACAAGGTGAAGCCAAGATTTGTAATTATTTCAGATCATGAGGCTGTGCCATGAGAACAAACAAGAGCCATTTGAGGCAATCTTATAGGTTAATAATCTGAAAAACGTACCAACCTAAAAATATCTAAAAATACTATATAAAATGCCATCTTCTTCCTCAATGAGTTCTTAAGGAAGTAAGGGAAATCTGCACTGGTTAAAATTAGAGATGTCTGTTCATGAGCTTATGCAAAATATAAGAGCAAAATACTGAGAAATAAAATACTGAGAGAATCTACCAGTAGGTTGAACCATAAGTTGTAGGTAACAA... | GCAAAAATAAAACAAGGTGAAGCCAAGATTTGTAATTATTTCAGATCATGAGGCTGTGCCATGAGAACAAACAAGAGCCATTTGAGGCAATCTTATAGGTTAATAATCTGAAAAACGTACCAACCTAAAAATATCTAAAAATACTATATAAAATGCCATCTTCTTCCTCAATGAGTTCTTAAGGAAGTAAGGGAAATCTGCACTGGTTAAAATTAGAGATGTCTGTTCATGAGCTTATGCAAAATATAAGAGCAAAATACTGAGAAATAAAATACTGAGAGAATCTACCAGTAGGTTGAACCATAAGTTGTAGGTAACAA... | benign | 85,022 |
A genetic variant at chromosome 4, position 109766615, affecting gene CFI (complement factor I)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Factor_I_deficiency'] | TTGGCTTCCCTCATGCTCCAGCTGCTTTTGCATATGAACATTGTCTTATCTTGGTCCACAAGTTTTACTTCAACTATTCCCTCTGAATCTGTATTTCCATGCTTCAAGGAAACACTAAACTTTCCTAAAATAAAAAAACAAAATAATGTGCAATATGTAGCCATTCACTTTTTTCTCTTAATTAAAAGTCTTTAAAAATAATAATGTACTTAATGTCAAGTGAGCTTTGAACATCATGACGATTTTAACAAGTAATAGTAAGCAATCATTTTACGAGTATTTATTATGTGTCAGCGGCAGTGCTATTCAGCTGTATAGAG... | TTGGCTTCCCTCATGCTCCAGCTGCTTTTGCATATGAACATTGTCTTATCTTGGTCCACAAGTTTTACTTCAACTATTCCCTCTGAATCTGTATTTCCATGCTTCAAGGAAACACTAAACTTTCCTAAAATAAAAAAACAAAATAATGTGCAATATGTAGCCATTCACTTTTTTCTCTTAATTAAAAGTCTTTAAAAATAATAATGTACTTAATGTCAAGTGAGCTTTGAACATCATGACGATTTTAACAAGTAATAGTAAGCAATCATTTTACGAGTATTTATTATGTGTCAGCGGCAGTGCTATTCAGCTGTATAGAG... | pathogenic | 85,027 |
Clinical impact (benign or pathogenic) of the variant at chromosome 4, location 109766800, gene CFI (complement factor I): what disease(s) if pathogenic? | pathogenic; ['Age_related_macular_degeneration_13', 'Atypical_hemolytic-uremic_syndrome', 'Atypical_hemolytic-uremic_syndrome_with_I_factor_anomaly', 'Factor_I_deficiency'] | AAGTCTTTAAAAATAATAATGTACTTAATGTCAAGTGAGCTTTGAACATCATGACGATTTTAACAAGTAATAGTAAGCAATCATTTTACGAGTATTTATTATGTGTCAGCGGCAGTGCTATTCAGCTGTATAGAGGATCATTAAATACTCACATCAACCCTATGAGGATAAAGCCTATTTATTCCCATTTTTACACAAGGAACCTCTAGGGGAAGTTAAGTTCCTGGCCCAAGTGATGAAGCCAGGATTTGGAACTTGCTCAGTTGATCTCACTCCAAAGTCCATGCTCTCAAAAGTAAGCCCAACCGTGAAAATGTAAA... | AAGTCTTTAAAAATAATAATGTACTTAATGTCAAGTGAGCTTTGAACATCATGACGATTTTAACAAGTAATAGTAAGCAATCATTTTACGAGTATTTATTATGTGTCAGCGGCAGTGCTATTCAGCTGTATAGAGGATCATTAAATACTCACATCAACCCTATGAGGATAAAGCCTATTTATTCCCATTTTTACACAAGGAACCTCTAGGGGAAGTTAAGTTCCTGGCCCAAGTGATGAAGCCAGGATTTGGAACTTGCTCAGTTGATCTCACTCCAAAGTCCATGCTCTCAAAAGTAAGCCCAACCGTGAAAATGTAAA... | pathogenic | 85,031 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 109945286, gene EGF (epidermal growth factor). What disease(s) is it linked to if pathogenic? | benign | AAATTTGATTTTGCAGAGAGTATGTAATATAGAGAAAAATGTTTCTGGAATGGCAATAAATTGGATAAATGAAGAAGTTATTTGGTCAAATCAACAGGAAGGAATCATTACAGTAACAGATATGAAAGGAAATAATTCCCACATTCTTTTAAGTGCTTTAAAATATCCTGCAAATGTAGCAGTTGATCCAGTAGAAAGGTAAATTCTGCTGTATTCAGACATTGAAATATATTTACAAATCTAGTGAAGATTGATAGAATTATAACATTGTAAATTCAAAGGGATCCTCTCACTGAGACCAAAGCCCTCTTTTGCAGCAC... | AAATTTGATTTTGCAGAGAGTATGTAATATAGAGAAAAATGTTTCTGGAATGGCAATAAATTGGATAAATGAAGAAGTTATTTGGTCAAATCAACAGGAAGGAATCATTACAGTAACAGATATGAAAGGAAATAATTCCCACATTCTTTTAAGTGCTTTAAAATATCCTGCAAATGTAGCAGTTGATCCAGTAGAAAGGTAAATTCTGCTGTATTCAGACATTGAAATATATTTACAAATCTAGTGAAGATTGATAGAATTATAACATTGTAAATTCAAAGGGATCCTCTCACTGAGACCAAAGCCCTCTTTTGCAGCAC... | benign | 85,094 |
Clinical classification of chromosome 4, position 110011233, gene EGF (epidermal growth factor): benign or pathogenic? Disease(s) if pathogenic? | benign | CCTAATTTGAAGAAGGCCTGGATATTTAAGGTACACTTAAAAATTGAATATGAAAACTACAATAAATAGTATAGTATTTTATATGGATCATTACTTTCCCCTGATAATGAAAAAATTCAGCATTTTCAAAAATTTGCTTCAGTGCTTATTGTTATTGGTAGCACTATTAAAAAGTAATGGAATATTTGTAGTTACTACTTTTCCTTGAGCAGCTAAAAGTGCATAATTCTTACAATGGTAACCCACTATAGAGGCACATATAATGTAATTTTGCAAGCTAATAGCACAACGATTTTACAGGAATTTGGTTAAACTTAGAA... | CCTAATTTGAAGAAGGCCTGGATATTTAAGGTACACTTAAAAATTGAATATGAAAACTACAATAAATAGTATAGTATTTTATATGGATCATTACTTTCCCCTGATAATGAAAAAATTCAGCATTTTCAAAAATTTGCTTCAGTGCTTATTGTTATTGGTAGCACTATTAAAAAGTAATGGAATATTTGTAGTTACTACTTTTCCTTGAGCAGCTAAAAGTGCATAATTCTTACAATGGTAACCCACTATAGAGGCACATATAATGTAATTTTGCAAGCTAATAGCACAACGATTTTACAGGAATTTGGTTAAACTTAGAA... | benign | 85,160 |
Gene mutation in PITX2 (paired like homeodomain 2) at chromosome 4, position 110618260—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Anterior_segment_dysgenesis_4', 'Axenfeld-Rieger_anomaly_with_partially_absent_eye_muscles,_distinctive_face,_hydrocephaly,_and_skeletal_abnormalities'] | TAGGTAAAGTTTCATTCAGATGAAAGCAACTAAGGCGAAAAAACAATGATATTGTCGGCTCCAGAAAATCGGCGGTTACTTTTTGCTCTAAGTTCCCCAGCGTGGTGTTTGTTCTCGCCCACTTTGGTTGTGCGGGGGGTTGACAAGCATAACAAAAGATCTCAGCACATCCCTCCCCCCACCTCCACAACGACCCTCCTAGCGCCATGAGGATGAATTCTCTGGGACTAAGTGGTATTTGTTTCTATTTGTTATGAAATCAAATTTCACATTTTTTTAAAGCTGAAAATCGCGGATAAAGAAGGATCGGGTGCTTAAAG... | TAGGTAAAGTTTCATTCAGATGAAAGCAACTAAGGCGAAAAAACAATGATATTGTCGGCTCCAGAAAATCGGCGGTTACTTTTTGCTCTAAGTTCCCCAGCGTGGTGTTTGTTCTCGCCCACTTTGGTTGTGCGGGGGGTTGACAAGCATAACAAAAGATCTCAGCACATCCCTCCCCCCACCTCCACAACGACCCTCCTAGCGCCATGAGGATGAATTCTCTGGGACTAAGTGGTATTTGTTTCTATTTGTTATGAAATCAAATTTCACATTTTTTTAAAGCTGAAAATCGCGGATAAAGAAGGATCGGGTGCTTAAAG... | pathogenic | 85,171 |
Is the genetic variant on chromosome 4, position 110618584, gene PITX2 (paired like homeodomain 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Anterior_segment_dysgenesis_4', 'Axenfeld-Rieger_syndrome_type_1'] | TTTAAACACTCACACCGAACTCATTCCCTGTTTAGATGTCAGAGGATGGCAGGGAGGGCCAGGGCTGTAATTCATCTTGATTTGCTTCATTGTCCTGCAGTTTGCAAACTATAATCCTGTATAATTTCAGGAACAAGCAGGTTTAGAATTAATGGGTCAATATTATTTAAAACAAAACACCGGGAGCATGACCTTTGCCTCAACTACATATTGCTCGACAAGACTCAGGAAACTCCACTCTAACCTCTCAACCCCTGAGTTCTTTGAGAAACTGAAGGGCTGTAGTTATTAGAAATCATCTTTGTTTCTTTTAATGTCTC... | TTTAAACACTCACACCGAACTCATTCCCTGTTTAGATGTCAGAGGATGGCAGGGAGGGCCAGGGCTGTAATTCATCTTGATTTGCTTCATTGTCCTGCAGTTTGCAAACTATAATCCTGTATAATTTCAGGAACAAGCAGGTTTAGAATTAATGGGTCAATATTATTTAAAACAAAACACCGGGAGCATGACCTTTGCCTCAACTACATATTGCTCGACAAGACTCAGGAAACTCCACTCTAACCTCTCAACCCCTGAGTTCTTTGAGAAACTGAAGGGCTGTAGTTATTAGAAATCATCTTTGTTTCTTTTAATGTCTC... | pathogenic | 85,176 |
Clinical classification of chromosome 4, position 110618650, gene PITX2 (paired like homeodomain 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Anterior_segment_dysgenesis_4', 'Axenfeld-Rieger_syndrome_type_1', 'Inborn_genetic_diseases'] | GTAATTCATCTTGATTTGCTTCATTGTCCTGCAGTTTGCAAACTATAATCCTGTATAATTTCAGGAACAAGCAGGTTTAGAATTAATGGGTCAATATTATTTAAAACAAAACACCGGGAGCATGACCTTTGCCTCAACTACATATTGCTCGACAAGACTCAGGAAACTCCACTCTAACCTCTCAACCCCTGAGTTCTTTGAGAAACTGAAGGGCTGTAGTTATTAGAAATCATCTTTGTTTCTTTTAATGTCTCCAAAGGATTTGGAAATAGTAATGCAATATAACATGAAGGATCTCTCTACTTAAGCCTGAAGATAAA... | GTAATTCATCTTGATTTGCTTCATTGTCCTGCAGTTTGCAAACTATAATCCTGTATAATTTCAGGAACAAGCAGGTTTAGAATTAATGGGTCAATATTATTTAAAACAAAACACCGGGAGCATGACCTTTGCCTCAACTACATATTGCTCGACAAGACTCAGGAAACTCCACTCTAACCTCTCAACCCCTGAGTTCTTTGAGAAACTGAAGGGCTGTAGTTATTAGAAATCATCTTTGTTTCTTTTAATGTCTCCAAAGGATTTGGAAATAGTAATGCAATATAACATGAAGGATCTCTCTACTTAAGCCTGAAGATAAA... | pathogenic | 85,177 |
Is the genetic mutation found on chromosome 4 at position 110632944, within the gene PITX2 (paired like homeodomain 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCGCGAAGCGAGATTGGGGAGCTCCTCTAGTCTGGCCGGAGCCAGGGCTGAGCCCGCGCAAAGCATTCTCCCCAGAAGTCATCGCTGCTCTTGATTTTTAACCATATCCCAAACATACTACGGTCTAATAATTTATTTTTACTACCGATTATCAAACAGAAGAAGAATTTAACACAATCTAAATGACAGAAATCACGCGACGTTATCTCTGCATTGCCCCCATTTAACCCCATGGGGTTAATCCCGGACAAGTGAGCGTTTAACTGGCCCAGCAGGGCGACTGGCGGTGTAGTGCAGTGTCCGGGCGTGAAGCACTGGAT... | GCGCGAAGCGAGATTGGGGAGCTCCTCTAGTCTGGCCGGAGCCAGGGCTGAGCCCGCGCAAAGCATTCTCCCCAGAAGTCATCGCTGCTCTTGATTTTTAACCATATCCCAAACATACTACGGTCTAATAATTTATTTTTACTACCGATTATCAAACAGAAGAAGAATTTAACACAATCTAAATGACAGAAATCACGCGACGTTATCTCTGCATTGCCCCCATTTAACCCCATGGGGTTAATCCCGGACAAGTGAGCGTTTAACTGGCCCAGCAGGGCGACTGGCGGTGTAGTGCAGTGTCCGGGCGTGAAGCACTGGAT... | benign | 85,194 |
Clinical significance of chromosome 4, position 112432540, gene ALPK1 (alpha kinase 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTGTCCTCCAGAATTGAAAAACTTACATCTGTGTGAAGCCAAAGAGGCCTTTGAGATTGGCCTCCTCACCAAGAGAGATGATGAGCCTGTTACTGGAAAACAGGAGCTTCACAGCTTTGTCAAAGCTGCTTTCGGTCTCACCACAGTGCACAGAAGGCTCCATGGGGAGACAGGGACGGTCCATGCAGCAAGTCAGCTCTGTAAGGAAGCAATGGGGAAGCTGTACAATTTCAGCACTTCCTCCAGAAGTCAGGACAGAGAAGCTCTGTCTCAAGAAGTTATGTCTGTGATTGCCCAGGTGAAGGAACATTTACAAGTTC... | CTGTCCTCCAGAATTGAAAAACTTACATCTGTGTGAAGCCAAAGAGGCCTTTGAGATTGGCCTCCTCACCAAGAGAGATGATGAGCCTGTTACTGGAAAACAGGAGCTTCACAGCTTTGTCAAAGCTGCTTTCGGTCTCACCACAGTGCACAGAAGGCTCCATGGGGAGACAGGGACGGTCCATGCAGCAAGTCAGCTCTGTAAGGAAGCAATGGGGAAGCTGTACAATTTCAGCACTTCCTCCAGAAGTCAGGACAGAGAAGCTCTGTCTCAAGAAGTTATGTCTGTGATTGCCCAGGTGAAGGAACATTTACAAGTTC... | benign | 85,218 |
Classify the chromosome 4 variant at position 112644730 affecting gene LARP7 (La ribonucleoprotein 7, transcriptional regulator) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CCATATCTAGCAATTACCCAAATTCACTACTTTTTTCTCCCATTTACCCACAACAGGCATGTATGCCTTCCCTAGATAAGGACCATGGTGTATTTAGGACACTTTGACACGTGAAAGCTTTAACCTCTTTTGCCTATCAATCTGTTGTTCTGGTCACGTAGGCATAAGGCCTCCATGCCATCTAATAGCTGCTCCAAACCAGGTGCAACATGGGAAACAGATACAACACCCCCATTAGTCTCTCCAGTTTCCAAGAAGACTGTATTATAGGAGACTGAGGTTATTCTCAAGCAGCCTGTATTATCCCAGGCCTGATATTA... | CCATATCTAGCAATTACCCAAATTCACTACTTTTTTCTCCCATTTACCCACAACAGGCATGTATGCCTTCCCTAGATAAGGACCATGGTGTATTTAGGACACTTTGACACGTGAAAGCTTTAACCTCTTTTGCCTATCAATCTGTTGTTCTGGTCACGTAGGCATAAGGCCTCCATGCCATCTAATAGCTGCTCCAAACCAGGTGCAACATGGGAAACAGATACAACACCCCCATTAGTCTCTCCAGTTTCCAAGAAGACTGTATTATAGGAGACTGAGGTTATTCTCAAGCAGCCTGTATTATCCCAGGCCTGATATTA... | benign | 85,226 |
Variant at chromosome 4, position 112644731, gene LARP7 (La ribonucleoprotein 7, transcriptional regulator): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['LARP7-related_disorder', 'Microcephalic_primordial_dwarfism,_Alazami_type'] | CATATCTAGCAATTACCCAAATTCACTACTTTTTTCTCCCATTTACCCACAACAGGCATGTATGCCTTCCCTAGATAAGGACCATGGTGTATTTAGGACACTTTGACACGTGAAAGCTTTAACCTCTTTTGCCTATCAATCTGTTGTTCTGGTCACGTAGGCATAAGGCCTCCATGCCATCTAATAGCTGCTCCAAACCAGGTGCAACATGGGAAACAGATACAACACCCCCATTAGTCTCTCCAGTTTCCAAGAAGACTGTATTATAGGAGACTGAGGTTATTCTCAAGCAGCCTGTATTATCCCAGGCCTGATATTAA... | CATATCTAGCAATTACCCAAATTCACTACTTTTTTCTCCCATTTACCCACAACAGGCATGTATGCCTTCCCTAGATAAGGACCATGGTGTATTTAGGACACTTTGACACGTGAAAGCTTTAACCTCTTTTGCCTATCAATCTGTTGTTCTGGTCACGTAGGCATAAGGCCTCCATGCCATCTAATAGCTGCTCCAAACCAGGTGCAACATGGGAAACAGATACAACACCCCCATTAGTCTCTCCAGTTTCCAAGAAGACTGTATTATAGGAGACTGAGGTTATTCTCAAGCAGCCTGTATTATCCCAGGCCTGATATTAA... | pathogenic | 85,227 |
Clinical impact (benign or pathogenic) of the variant at chromosome 4, location 112644786, gene LARP7 (La ribonucleoprotein 7, transcriptional regulator): what disease(s) if pathogenic? | pathogenic; ['Microcephalic_primordial_dwarfism,_Alazami_type'] | GCATGTATGCCTTCCCTAGATAAGGACCATGGTGTATTTAGGACACTTTGACACGTGAAAGCTTTAACCTCTTTTGCCTATCAATCTGTTGTTCTGGTCACGTAGGCATAAGGCCTCCATGCCATCTAATAGCTGCTCCAAACCAGGTGCAACATGGGAAACAGATACAACACCCCCATTAGTCTCTCCAGTTTCCAAGAAGACTGTATTATAGGAGACTGAGGTTATTCTCAAGCAGCCTGTATTATCCCAGGCCTGATATTAATCCTTTGCTCCTATACCACTAGTGATTCAATTCATTCAACAAAATCGAGGCACAA... | GCATGTATGCCTTCCCTAGATAAGGACCATGGTGTATTTAGGACACTTTGACACGTGAAAGCTTTAACCTCTTTTGCCTATCAATCTGTTGTTCTGGTCACGTAGGCATAAGGCCTCCATGCCATCTAATAGCTGCTCCAAACCAGGTGCAACATGGGAAACAGATACAACACCCCCATTAGTCTCTCCAGTTTCCAAGAAGACTGTATTATAGGAGACTGAGGTTATTCTCAAGCAGCCTGTATTATCCCAGGCCTGATATTAATCCTTTGCTCCTATACCACTAGTGATTCAATTCATTCAACAAAATCGAGGCACAA... | pathogenic | 85,228 |
Does the genetic variant at chromosome 4, position 112646369, impacting gene LARP7 (La ribonucleoprotein 7, transcriptional regulator), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Microcephalic_primordial_dwarfism,_Alazami_type'] | GTTGCGATGGAGAGTGTCCACGTCCCTTAATCTTACACTTTTCACTTACTGACTTAAAAGTGCAGCTTAGTGAGATAAAGGTGTAATTTTTTATATTATTCTAGGATAATCTGGCCCTGTGTTTTAAAAGGTACAAAGAAACTAAAGCTATGATCCCTAACATAGAAGGTAAATTATTTTTAAATTTAATTTATTAAATATAAAAATGAATGTTCTTTCTGTTTGTCTTCTGATGGCCAAATGTGAGTCCATTATTCTCTCAGACAGTTAAAGGCTAATCTAAATATTTAACTATATTAGCTATTGTGGTGATTTAAATA... | GTTGCGATGGAGAGTGTCCACGTCCCTTAATCTTACACTTTTCACTTACTGACTTAAAAGTGCAGCTTAGTGAGATAAAGGTGTAATTTTTTATATTATTCTAGGATAATCTGGCCCTGTGTTTTAAAAGGTACAAAGAAACTAAAGCTATGATCCCTAACATAGAAGGTAAATTATTTTTAAATTTAATTTATTAAATATAAAAATGAATGTTCTTTCTGTTTGTCTTCTGATGGCCAAATGTGAGTCCATTATTCTCTCAGACAGTTAAAGGCTAATCTAAATATTTAACTATATTAGCTATTGTGGTGATTTAAATA... | pathogenic | 85,230 |
Considering the genetic mutation at chromosome 4, position 112647127, impacting LARP7: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Microcephalic_primordial_dwarfism,_Alazami_type'] | TGGGACTACAGGCAAGCACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGATGGGATTTTACTGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTACACCCAGCCTAAAATAGTATATTCTATAATGTGTATATTCGTTTCTGTAAGTGTGTTCCGTGTAATCTGTTCTAATTTTTATTTAGTGAATGACAATCTTCTAAATAAAGACTGTTGGTAACAGTTTAGGCTATATTAAATAAGCAATTTCAAATCAAAGCTT... | TGGGACTACAGGCAAGCACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGATGGGATTTTACTGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTACACCCAGCCTAAAATAGTATATTCTATAATGTGTATATTCGTTTCTGTAAGTGTGTTCCGTGTAATCTGTTCTAATTTTTATTTAGTGAATGACAATCTTCTAAATAAAGACTGTTGGTAACAGTTTAGGCTATATTAAATAAGCAATTTCAAATCAAAGCTT... | pathogenic | 85,231 |
Is the genetic mutation found on chromosome 4 at position 112647196, within the gene LARP7, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Microcephalic_primordial_dwarfism,_Alazami_type'] | TGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTACACCCAGCCTAAAATAGTATATTCTATAATGTGTATATTCGTTTCTGTAAGTGTGTTCCGTGTAATCTGTTCTAATTTTTATTTAGTGAATGACAATCTTCTAAATAAAGACTGTTGGTAACAGTTTAGGCTATATTAAATAAGCAATTTCAAATCAAAGCTTTTAAGTATTTTGGGATTTAATTGCTTCAATAACCATTCATCATGTGTAACTCGAGAGTGCTATACTTTA... | TGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTACACCCAGCCTAAAATAGTATATTCTATAATGTGTATATTCGTTTCTGTAAGTGTGTTCCGTGTAATCTGTTCTAATTTTTATTTAGTGAATGACAATCTTCTAAATAAAGACTGTTGGTAACAGTTTAGGCTATATTAAATAAGCAATTTCAAATCAAAGCTTTTAAGTATTTTGGGATTTAATTGCTTCAATAACCATTCATCATGTGTAACTCGAGAGTGCTATACTTTA... | pathogenic | 85,232 |
Is the variant located on chromosome 4 at position 112647221, gene LARP7, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic | CTGACCTTGTGATCTGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTACACCCAGCCTAAAATAGTATATTCTATAATGTGTATATTCGTTTCTGTAAGTGTGTTCCGTGTAATCTGTTCTAATTTTTATTTAGTGAATGACAATCTTCTAAATAAAGACTGTTGGTAACAGTTTAGGCTATATTAAATAAGCAATTTCAAATCAAAGCTTTTAAGTATTTTGGGATTTAATTGCTTCAATAACCATTCATCATGTGTAACTCGAGAGTGCTATACTTTAGTTCATACAAGAAGGCATTTCACCT... | CTGACCTTGTGATCTGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACTACACCCAGCCTAAAATAGTATATTCTATAATGTGTATATTCGTTTCTGTAAGTGTGTTCCGTGTAATCTGTTCTAATTTTTATTTAGTGAATGACAATCTTCTAAATAAAGACTGTTGGTAACAGTTTAGGCTATATTAAATAAGCAATTTCAAATCAAAGCTTTTAAGTATTTTGGGATTTAATTGCTTCAATAACCATTCATCATGTGTAACTCGAGAGTGCTATACTTTAGTTCATACAAGAAGGCATTTCACCT... | pathogenic | 85,233 |
Does the variant impacting LARP7 on chromosome 4, position 112647276, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | AGCCACTACACCCAGCCTAAAATAGTATATTCTATAATGTGTATATTCGTTTCTGTAAGTGTGTTCCGTGTAATCTGTTCTAATTTTTATTTAGTGAATGACAATCTTCTAAATAAAGACTGTTGGTAACAGTTTAGGCTATATTAAATAAGCAATTTCAAATCAAAGCTTTTAAGTATTTTGGGATTTAATTGCTTCAATAACCATTCATCATGTGTAACTCGAGAGTGCTATACTTTAGTTCATACAAGAAGGCATTTCACCTAGCTCAATGTTATTTTTTGTTTCATTTTTTTGAGGCAAGGTCTATCTTTTTTCCC... | AGCCACTACACCCAGCCTAAAATAGTATATTCTATAATGTGTATATTCGTTTCTGTAAGTGTGTTCCGTGTAATCTGTTCTAATTTTTATTTAGTGAATGACAATCTTCTAAATAAAGACTGTTGGTAACAGTTTAGGCTATATTAAATAAGCAATTTCAAATCAAAGCTTTTAAGTATTTTGGGATTTAATTGCTTCAATAACCATTCATCATGTGTAACTCGAGAGTGCTATACTTTAGTTCATACAAGAAGGCATTTCACCTAGCTCAATGTTATTTTTTGTTTCATTTTTTTGAGGCAAGGTCTATCTTTTTTCCC... | pathogenic | 85,234 |
Located at chromosome 4 position 112647282, the variant affecting gene LARP7—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Microcephalic_primordial_dwarfism,_Alazami_type'] | TACACCCAGCCTAAAATAGTATATTCTATAATGTGTATATTCGTTTCTGTAAGTGTGTTCCGTGTAATCTGTTCTAATTTTTATTTAGTGAATGACAATCTTCTAAATAAAGACTGTTGGTAACAGTTTAGGCTATATTAAATAAGCAATTTCAAATCAAAGCTTTTAAGTATTTTGGGATTTAATTGCTTCAATAACCATTCATCATGTGTAACTCGAGAGTGCTATACTTTAGTTCATACAAGAAGGCATTTCACCTAGCTCAATGTTATTTTTTGTTTCATTTTTTTGAGGCAAGGTCTATCTTTTTTCCCTAGGCA... | TACACCCAGCCTAAAATAGTATATTCTATAATGTGTATATTCGTTTCTGTAAGTGTGTTCCGTGTAATCTGTTCTAATTTTTATTTAGTGAATGACAATCTTCTAAATAAAGACTGTTGGTAACAGTTTAGGCTATATTAAATAAGCAATTTCAAATCAAAGCTTTTAAGTATTTTGGGATTTAATTGCTTCAATAACCATTCATCATGTGTAACTCGAGAGTGCTATACTTTAGTTCATACAAGAAGGCATTTCACCTAGCTCAATGTTATTTTTTGTTTCATTTTTTTGAGGCAAGGTCTATCTTTTTTCCCTAGGCA... | pathogenic | 85,235 |
Variant at chromosome 4, position 112647331, gene LARP7: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic | TAAGTGTGTTCCGTGTAATCTGTTCTAATTTTTATTTAGTGAATGACAATCTTCTAAATAAAGACTGTTGGTAACAGTTTAGGCTATATTAAATAAGCAATTTCAAATCAAAGCTTTTAAGTATTTTGGGATTTAATTGCTTCAATAACCATTCATCATGTGTAACTCGAGAGTGCTATACTTTAGTTCATACAAGAAGGCATTTCACCTAGCTCAATGTTATTTTTTGTTTCATTTTTTTGAGGCAAGGTCTATCTTTTTTCCCTAGGCAGGAATGCACTGGCTCCATGTCTGCTCACTCCAACTTCTGCCCCCACCTC... | TAAGTGTGTTCCGTGTAATCTGTTCTAATTTTTATTTAGTGAATGACAATCTTCTAAATAAAGACTGTTGGTAACAGTTTAGGCTATATTAAATAAGCAATTTCAAATCAAAGCTTTTAAGTATTTTGGGATTTAATTGCTTCAATAACCATTCATCATGTGTAACTCGAGAGTGCTATACTTTAGTTCATACAAGAAGGCATTTCACCTAGCTCAATGTTATTTTTTGTTTCATTTTTTTGAGGCAAGGTCTATCTTTTTTCCCTAGGCAGGAATGCACTGGCTCCATGTCTGCTCACTCCAACTTCTGCCCCCACCTC... | pathogenic | 85,237 |
Considering the genetic mutation at chromosome 4, position 112647380, impacting LARP7: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Microcephalic_primordial_dwarfism,_Alazami_type'] | TCTTCTAAATAAAGACTGTTGGTAACAGTTTAGGCTATATTAAATAAGCAATTTCAAATCAAAGCTTTTAAGTATTTTGGGATTTAATTGCTTCAATAACCATTCATCATGTGTAACTCGAGAGTGCTATACTTTAGTTCATACAAGAAGGCATTTCACCTAGCTCAATGTTATTTTTTGTTTCATTTTTTTGAGGCAAGGTCTATCTTTTTTCCCTAGGCAGGAATGCACTGGCTCCATGTCTGCTCACTCCAACTTCTGCCCCCACCTCCACCCCCTCAGCCCCACCCAAGCGATCCTCCATCAGCCTCCCCAGTAGC... | TCTTCTAAATAAAGACTGTTGGTAACAGTTTAGGCTATATTAAATAAGCAATTTCAAATCAAAGCTTTTAAGTATTTTGGGATTTAATTGCTTCAATAACCATTCATCATGTGTAACTCGAGAGTGCTATACTTTAGTTCATACAAGAAGGCATTTCACCTAGCTCAATGTTATTTTTTGTTTCATTTTTTTGAGGCAAGGTCTATCTTTTTTCCCTAGGCAGGAATGCACTGGCTCCATGTCTGCTCACTCCAACTTCTGCCCCCACCTCCACCCCCTCAGCCCCACCCAAGCGATCCTCCATCAGCCTCCCCAGTAGC... | pathogenic | 85,238 |
Gene mutation in LARP7 at chromosome 4, position 112647767—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['LARP7-related_disorder'] | ACCATGTTGCCCAGGCTGGTCTTGAGCTCCTGAGCTCAAGAGATTTACCTTCACCCCTGAATTGCTGAGATAAGAAGCATTGAGCCACCATCCCCAGTTGCTAAATTTCAAATAGCCAACCTTGTGCTTGTTTCTAATAGGATGGGATCCAGATGTCCTCTTTGAATGTCTGGGTATTGCTAATAATTTGTGTTCAAATCTTAATCTGCAGTTACATACACTAAAATGTGTCATTTTAGGTCGCCAAATATGCAATGCCATTTAGACCCTCATACAGTTTTTTTTTGTTTGTTTTGTTTGAGTCTCTTTCTCCCAGGCTG... | ACCATGTTGCCCAGGCTGGTCTTGAGCTCCTGAGCTCAAGAGATTTACCTTCACCCCTGAATTGCTGAGATAAGAAGCATTGAGCCACCATCCCCAGTTGCTAAATTTCAAATAGCCAACCTTGTGCTTGTTTCTAATAGGATGGGATCCAGATGTCCTCTTTGAATGTCTGGGTATTGCTAATAATTTGTGTTCAAATCTTAATCTGCAGTTACATACACTAAAATGTGTCATTTTAGGTCGCCAAATATGCAATGCCATTTAGACCCTCATACAGTTTTTTTTTGTTTGTTTTGTTTGAGTCTCTTTCTCCCAGGCTG... | pathogenic | 85,242 |
Classify the chromosome 4 variant at position 112647779 affecting gene LARP7 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic | AGGCTGGTCTTGAGCTCCTGAGCTCAAGAGATTTACCTTCACCCCTGAATTGCTGAGATAAGAAGCATTGAGCCACCATCCCCAGTTGCTAAATTTCAAATAGCCAACCTTGTGCTTGTTTCTAATAGGATGGGATCCAGATGTCCTCTTTGAATGTCTGGGTATTGCTAATAATTTGTGTTCAAATCTTAATCTGCAGTTACATACACTAAAATGTGTCATTTTAGGTCGCCAAATATGCAATGCCATTTAGACCCTCATACAGTTTTTTTTTGTTTGTTTTGTTTGAGTCTCTTTCTCCCAGGCTGGAGTGATCTCAG... | AGGCTGGTCTTGAGCTCCTGAGCTCAAGAGATTTACCTTCACCCCTGAATTGCTGAGATAAGAAGCATTGAGCCACCATCCCCAGTTGCTAAATTTCAAATAGCCAACCTTGTGCTTGTTTCTAATAGGATGGGATCCAGATGTCCTCTTTGAATGTCTGGGTATTGCTAATAATTTGTGTTCAAATCTTAATCTGCAGTTACATACACTAAAATGTGTCATTTTAGGTCGCCAAATATGCAATGCCATTTAGACCCTCATACAGTTTTTTTTTGTTTGTTTTGTTTGAGTCTCTTTCTCCCAGGCTGGAGTGATCTCAG... | pathogenic | 85,243 |
Gene mutation in LARP7 at chromosome 4, position 112647781—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Microcephalic_primordial_dwarfism,_Alazami_type'] | GCTGGTCTTGAGCTCCTGAGCTCAAGAGATTTACCTTCACCCCTGAATTGCTGAGATAAGAAGCATTGAGCCACCATCCCCAGTTGCTAAATTTCAAATAGCCAACCTTGTGCTTGTTTCTAATAGGATGGGATCCAGATGTCCTCTTTGAATGTCTGGGTATTGCTAATAATTTGTGTTCAAATCTTAATCTGCAGTTACATACACTAAAATGTGTCATTTTAGGTCGCCAAATATGCAATGCCATTTAGACCCTCATACAGTTTTTTTTTGTTTGTTTTGTTTGAGTCTCTTTCTCCCAGGCTGGAGTGATCTCAGCT... | GCTGGTCTTGAGCTCCTGAGCTCAAGAGATTTACCTTCACCCCTGAATTGCTGAGATAAGAAGCATTGAGCCACCATCCCCAGTTGCTAAATTTCAAATAGCCAACCTTGTGCTTGTTTCTAATAGGATGGGATCCAGATGTCCTCTTTGAATGTCTGGGTATTGCTAATAATTTGTGTTCAAATCTTAATCTGCAGTTACATACACTAAAATGTGTCATTTTAGGTCGCCAAATATGCAATGCCATTTAGACCCTCATACAGTTTTTTTTTGTTTGTTTTGTTTGAGTCTCTTTCTCCCAGGCTGGAGTGATCTCAGCT... | pathogenic | 85,244 |
Does the variant impacting LARP7 on chromosome 4, position 112649597, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Microcephalic_primordial_dwarfism,_Alazami_type'] | GGTAAAACTACAAGGTTTTAATTAGATAAAACTAATTAATTTTAATTAATTAGTTTTTAATTAATTAGGTTTTAATTGGCTTCTGTTTCACCCATTTCACAGCCCCATGTCTTAACGGAGAGCTTTTTTATTTATTTCAAGATATAGAAATCTCTACTGAAGAGGAAAAGGATACTGGAGATCTAAAAGATAGCTCTCTCTTGAAAACAAAAAGGAAACATAAGAAAAAACATAAAGAGAGACATAAAATGGGAGAAGAAGTTATACCATTAAGAGTGCTATCAAAGTAAGTCTGTGGTTTAAATTCTGTCATTGGCTTA... | GGTAAAACTACAAGGTTTTAATTAGATAAAACTAATTAATTTTAATTAATTAGTTTTTAATTAATTAGGTTTTAATTGGCTTCTGTTTCACCCATTTCACAGCCCCATGTCTTAACGGAGAGCTTTTTTATTTATTTCAAGATATAGAAATCTCTACTGAAGAGGAAAAGGATACTGGAGATCTAAAAGATAGCTCTCTCTTGAAAACAAAAAGGAAACATAAGAAAAAACATAAAGAGAGACATAAAATGGGAGAAGAAGTTATACCATTAAGAGTGCTATCAAAGTAAGTCTGTGGTTTAAATTCTGTCATTGGCTTA... | pathogenic | 85,247 |
Regarding the variant found on chromosome 4 at position 113343147 in gene ANK2 (ankyrin 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTTCTTCTATGAATTATATTCAGCAATACTTAGGAGTTCTGGAGCAGGTTTTTTAAAATGGTTGGGTTGATTCCACTTTGGTGATTAGAGTTCCATGGAAAAGAATAACGAGGGGAGGAAAAGCTGGGTAGATTTTGTTGAAAAGAGTTTCAGGAAATGAAATGACAGCTAGGGAGGGGGGATCAAGGAAAATAGAAAACTATGCAGTGAGATCCTTGTCTTATGTCTGCTATTGAGTTCACTCCACTAAAGGATTCCAAAACACTAAATATATAGTTCAGAAAACTGAATATTCAGAAGAGTTTCCAAAAAAGAAAATT... | TTTCTTCTATGAATTATATTCAGCAATACTTAGGAGTTCTGGAGCAGGTTTTTTAAAATGGTTGGGTTGATTCCACTTTGGTGATTAGAGTTCCATGGAAAAGAATAACGAGGGGAGGAAAAGCTGGGTAGATTTTGTTGAAAAGAGTTTCAGGAAATGAAATGACAGCTAGGGAGGGGGGATCAAGGAAAATAGAAAACTATGCAGTGAGATCCTTGTCTTATGTCTGCTATTGAGTTCACTCCACTAAAGGATTCCAAAACACTAAATATATAGTTCAGAAAACTGAATATTCAGAAGAGTTTCCAAAAAAGAAAATT... | benign | 85,466 |
Is the genetic variant on chromosome 4, position 113365030, gene ANK2 (ankyrin 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TGTTATCAGTCATTTATTTTCCATTATCTTGCTTAAAAGTATAAGCAAGTATTAATGATCTCATTTGCATTTTGGAATCAAATGGGCCTGAATTATACATATCTTATCATTGCTGCCTCACACTTACTATTTTCACTATGCAGTGATAAATTCTATACCCAGTTTTAGGGGAAAAAATCCATAATTAGTACTAGAAGAACAAAGGCATATAAGAGTCACTTCTAATATGTAGAAATTAAGGAACTCAAATACTCACCACAATATAAAGAACACATCATTTACAAAATCACAAAGCAAAATGTAGAGACTGAAACCTTGAA... | TGTTATCAGTCATTTATTTTCCATTATCTTGCTTAAAAGTATAAGCAAGTATTAATGATCTCATTTGCATTTTGGAATCAAATGGGCCTGAATTATACATATCTTATCATTGCTGCCTCACACTTACTATTTTCACTATGCAGTGATAAATTCTATACCCAGTTTTAGGGGAAAAAATCCATAATTAGTACTAGAAGAACAAAGGCATATAAGAGTCACTTCTAATATGTAGAAATTAAGGAACTCAAATACTCACCACAATATAAAGAACACATCATTTACAAAATCACAAAGCAAAATGTAGAGACTGAAACCTTGAA... | benign | 85,699 |
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