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 |
|---|---|---|---|---|---|
Considering the genetic mutation at chromosome 5, position 39308247, impacting C9 (complement C9): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | CAATTCTCCTGTGTTAGACGTGATAGTGGAACACCACGGGAAGGCAAGAACAGCCAGGGGCCGACGGGAGGGAACTAATCATATGTGAGTACCTATCTTGTTACAGTGTGTGCTGTATGCTCTATATAAGCAATTTCGTTAAATTCTCAGAACAAAGATGGAGTCCTAGAGAATTCAGTGTTGTAGAGGTCAGAAAACATCCCACACATAGTGAGAGACAGAGACAGGAAGTCAGCCAGGATGGTCTGACTCTACACCATGCCTTTTCTCTATGCCATGCCTCCTTTTGGGGAAGAAATGGGAGTGTATCTGAATGTTCA... | CAATTCTCCTGTGTTAGACGTGATAGTGGAACACCACGGGAAGGCAAGAACAGCCAGGGGCCGACGGGAGGGAACTAATCATATGTGAGTACCTATCTTGTTACAGTGTGTGCTGTATGCTCTATATAAGCAATTTCGTTAAATTCTCAGAACAAAGATGGAGTCCTAGAGAATTCAGTGTTGTAGAGGTCAGAAAACATCCCACACATAGTGAGAGACAGAGACAGGAAGTCAGCCAGGATGGTCTGACTCTACACCATGCCTTTTCTCTATGCCATGCCTCCTTTTGGGGAAGAAATGGGAGTGTATCTGAATGTTCA... | pathogenic | 92,399 |
Does the variant on chromosome 5 at location 41805648 affecting gene OXCT1 (3-oxoacid CoA-transferase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['OXCT1-related_disorder', 'Succinyl-CoA_acetoacetate_transferase_deficiency'] | TTTAAAAAAGTTTTCTGACAATACCAAAATTTCTGCCTAAAAGTATATCAGATCCTTTGGGTCTCTATAGTAACATTCATTGGTAACTGAATTTTCTATGTGACATAAAAAGAAAAGTGGGGAGGAAATTAAATTTCAGCAAATACAATTGAGCTCATCGATAAAGGAGCTGTTGTTAAGGCATCAAAGAGTTAAATGAGGTTGTTGAATTGTCTTCCTTAAATGATCAAAACAGGAGTGATGATGATTACTACTCAATGGTGTGGGTTCAATCCTGCCTATCAACATAGGCAGGCTGATCAGATCAAAGATACTCACAC... | TTTAAAAAAGTTTTCTGACAATACCAAAATTTCTGCCTAAAAGTATATCAGATCCTTTGGGTCTCTATAGTAACATTCATTGGTAACTGAATTTTCTATGTGACATAAAAAGAAAAGTGGGGAGGAAATTAAATTTCAGCAAATACAATTGAGCTCATCGATAAAGGAGCTGTTGTTAAGGCATCAAAGAGTTAAATGAGGTTGTTGAATTGTCTTCCTTAAATGATCAAAACAGGAGTGATGATGATTACTACTCAATGGTGTGGGTTCAATCCTGCCTATCAACATAGGCAGGCTGATCAGATCAAAGATACTCACAC... | pathogenic | 92,516 |
Determine whether the variant at chromosome 5, position 41870266, in gene OXCT1 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AAGGTTTCTGTTTGCCTGGAGGGTTCTCTCATCCGTACTTTAAACATGTGTAGAATATCTGATCTATGCAGAGTAGTGTGTTTGTTGAGGGAGACTAAGTGTAAGGCATAAATATGGTCTCTGCCATCGGGGAACTGTCATCTGGTTGAGGAGACAATATACACATCTGAAAAGTTAAACAAGTAGATAAGTGGTACAGTTCAACAGAAGCAGCAGGTGAGGATTTAAAGTGCTAAACAATAAGGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCAGCTAAA... | AAGGTTTCTGTTTGCCTGGAGGGTTCTCTCATCCGTACTTTAAACATGTGTAGAATATCTGATCTATGCAGAGTAGTGTGTTTGTTGAGGGAGACTAAGTGTAAGGCATAAATATGGTCTCTGCCATCGGGGAACTGTCATCTGGTTGAGGAGACAATATACACATCTGAAAAGTTAAACAAGTAGATAAGTGGTACAGTTCAACAGAAGCAGCAGGTGAGGATTTAAAGTGCTAAACAATAAGGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCAGCTAAA... | benign | 92,530 |
Considering the genetic mutation at chromosome 5, position 42688941, impacting GHR (growth hormone receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Growth_hormone_insensitivity_syndrome', 'Laron-type_isolated_somatotropin_defect'] | TGTTTGCAGATGACATGATTGTATATTTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACGAAATCAAAGTGCAAAAATCACAAGCATTCCTATACACCAGTAACAGACAGAGAGCCAAATCACGAGCAAACTCCCATTCACAATTGCTACAAAGAGAATAAAATACCTAGGAATACAACTTACAAAGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAGAGAGGACACAAACAAATGGAAAAACATCCTCATGGATAGGA... | TGTTTGCAGATGACATGATTGTATATTTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACGAAATCAAAGTGCAAAAATCACAAGCATTCCTATACACCAGTAACAGACAGAGAGCCAAATCACGAGCAAACTCCCATTCACAATTGCTACAAAGAGAATAAAATACCTAGGAATACAACTTACAAAGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAGAGAGGACACAAACAAATGGAAAAACATCCTCATGGATAGGA... | pathogenic | 92,539 |
Clinical classification of chromosome 5, position 45267081, gene HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1): benign or pathogenic? Disease(s) if pathogenic? | benign | ACAAAATATTAGCAGGGCGTGGCAGTGCACACCTGCAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCTGTCTTAAAAAAAAAAAAAAATTAACTGCAATAAGTTAGATGAAAGTGAAGCTGTATCAGATTAACAGAAATTATCTAGTGAAATATCCTGATTTTAATGTTTTCTCTAAGGATGTCTAGCTGGTTTAGGAAGAAACTCATTGCTTAGAAATTAGTCTCTGTCTCTAAC... | ACAAAATATTAGCAGGGCGTGGCAGTGCACACCTGCAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCTGTCTTAAAAAAAAAAAAAAATTAACTGCAATAAGTTAGATGAAAGTGAAGCTGTATCAGATTAACAGAAATTATCTAGTGAAATATCCTGATTTTAATGTTTTCTCTAAGGATGTCTAGCTGGTTTAGGAAGAAACTCATTGCTTAGAAATTAGTCTCTGTCTCTAAC... | benign | 92,615 |
A genetic variant on chromosome 5, position 45695870, affects the gene HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TATGTAATCATTTTATTGAGTGAAATTAAATGTTAAAAGTTCAGCATTTTTGCATGTTAATATTGAACCTGGTACATTTCTGGAAATACCACATTTATTTTTGCTATTAAGACTGGAGACTTTTTTCATGTAAGTTATTTTCATTTAAAAATTTTAAAATGAGGTGAAATATATTTCCATTGGGGACTGAGGAAAAGATAATATTCTATACTTGATTCCCACCTTTAAAATTCTAAAGAACATGACAACCTTATACATCTTAGAACAGGGTCATTTATAAGTTTGCTTCCCTATCTTCCTACTGGAGGAAACAGGTTTGA... | TATGTAATCATTTTATTGAGTGAAATTAAATGTTAAAAGTTCAGCATTTTTGCATGTTAATATTGAACCTGGTACATTTCTGGAAATACCACATTTATTTTTGCTATTAAGACTGGAGACTTTTTTCATGTAAGTTATTTTCATTTAAAAATTTTAAAATGAGGTGAAATATATTTCCATTGGGGACTGAGGAAAAGATAATATTCTATACTTGATTCCCACCTTTAAAATTCTAAAGAACATGACAACCTTATACATCTTAGAACAGGGTCATTTATAAGTTTGCTTCCCTATCTTCCTACTGGAGGAAACAGGTTTGA... | benign | 92,645 |
Assess the variant on chromosome 5, position 45695870, impacting HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TATGTAATCATTTTATTGAGTGAAATTAAATGTTAAAAGTTCAGCATTTTTGCATGTTAATATTGAACCTGGTACATTTCTGGAAATACCACATTTATTTTTGCTATTAAGACTGGAGACTTTTTTCATGTAAGTTATTTTCATTTAAAAATTTTAAAATGAGGTGAAATATATTTCCATTGGGGACTGAGGAAAAGATAATATTCTATACTTGATTCCCACCTTTAAAATTCTAAAGAACATGACAACCTTATACATCTTAGAACAGGGTCATTTATAAGTTTGCTTCCCTATCTTCCTACTGGAGGAAACAGGTTTGA... | TATGTAATCATTTTATTGAGTGAAATTAAATGTTAAAAGTTCAGCATTTTTGCATGTTAATATTGAACCTGGTACATTTCTGGAAATACCACATTTATTTTTGCTATTAAGACTGGAGACTTTTTTCATGTAAGTTATTTTCATTTAAAAATTTTAAAATGAGGTGAAATATATTTCCATTGGGGACTGAGGAAAAGATAATATTCTATACTTGATTCCCACCTTTAAAATTCTAAAGAACATGACAACCTTATACATCTTAGAACAGGGTCATTTATAAGTTTGCTTCCCTATCTTCCTACTGGAGGAAACAGGTTTGA... | benign | 92,646 |
The mutation impacting HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1) on chromosome 5 at position 45695870: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TATGTAATCATTTTATTGAGTGAAATTAAATGTTAAAAGTTCAGCATTTTTGCATGTTAATATTGAACCTGGTACATTTCTGGAAATACCACATTTATTTTTGCTATTAAGACTGGAGACTTTTTTCATGTAAGTTATTTTCATTTAAAAATTTTAAAATGAGGTGAAATATATTTCCATTGGGGACTGAGGAAAAGATAATATTCTATACTTGATTCCCACCTTTAAAATTCTAAAGAACATGACAACCTTATACATCTTAGAACAGGGTCATTTATAAGTTTGCTTCCCTATCTTCCTACTGGAGGAAACAGGTTTGA... | TATGTAATCATTTTATTGAGTGAAATTAAATGTTAAAAGTTCAGCATTTTTGCATGTTAATATTGAACCTGGTACATTTCTGGAAATACCACATTTATTTTTGCTATTAAGACTGGAGACTTTTTTCATGTAAGTTATTTTCATTTAAAAATTTTAAAATGAGGTGAAATATATTTCCATTGGGGACTGAGGAAAAGATAATATTCTATACTTGATTCCCACCTTTAAAATTCTAAAGAACATGACAACCTTATACATCTTAGAACAGGGTCATTTATAAGTTTGCTTCCCTATCTTCCTACTGGAGGAAACAGGTTTGA... | benign | 92,647 |
Gene mutation in HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1) at chromosome 5, position 45695870—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TATGTAATCATTTTATTGAGTGAAATTAAATGTTAAAAGTTCAGCATTTTTGCATGTTAATATTGAACCTGGTACATTTCTGGAAATACCACATTTATTTTTGCTATTAAGACTGGAGACTTTTTTCATGTAAGTTATTTTCATTTAAAAATTTTAAAATGAGGTGAAATATATTTCCATTGGGGACTGAGGAAAAGATAATATTCTATACTTGATTCCCACCTTTAAAATTCTAAAGAACATGACAACCTTATACATCTTAGAACAGGGTCATTTATAAGTTTGCTTCCCTATCTTCCTACTGGAGGAAACAGGTTTGA... | TATGTAATCATTTTATTGAGTGAAATTAAATGTTAAAAGTTCAGCATTTTTGCATGTTAATATTGAACCTGGTACATTTCTGGAAATACCACATTTATTTTTGCTATTAAGACTGGAGACTTTTTTCATGTAAGTTATTTTCATTTAAAAATTTTAAAATGAGGTGAAATATATTTCCATTGGGGACTGAGGAAAAGATAATATTCTATACTTGATTCCCACCTTTAAAATTCTAAAGAACATGACAACCTTATACATCTTAGAACAGGGTCATTTATAAGTTTGCTTCCCTATCTTCCTACTGGAGGAAACAGGTTTGA... | benign | 92,648 |
The mutation impacting HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1) on chromosome 5 at position 45695884: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ATTGAGTGAAATTAAATGTTAAAAGTTCAGCATTTTTGCATGTTAATATTGAACCTGGTACATTTCTGGAAATACCACATTTATTTTTGCTATTAAGACTGGAGACTTTTTTCATGTAAGTTATTTTCATTTAAAAATTTTAAAATGAGGTGAAATATATTTCCATTGGGGACTGAGGAAAAGATAATATTCTATACTTGATTCCCACCTTTAAAATTCTAAAGAACATGACAACCTTATACATCTTAGAACAGGGTCATTTATAAGTTTGCTTCCCTATCTTCCTACTGGAGGAAACAGGTTTGATTATTTATTACATC... | ATTGAGTGAAATTAAATGTTAAAAGTTCAGCATTTTTGCATGTTAATATTGAACCTGGTACATTTCTGGAAATACCACATTTATTTTTGCTATTAAGACTGGAGACTTTTTTCATGTAAGTTATTTTCATTTAAAAATTTTAAAATGAGGTGAAATATATTTCCATTGGGGACTGAGGAAAAGATAATATTCTATACTTGATTCCCACCTTTAAAATTCTAAAGAACATGACAACCTTATACATCTTAGAACAGGGTCATTTATAAGTTTGCTTCCCTATCTTCCTACTGGAGGAAACAGGTTTGATTATTTATTACATC... | benign | 92,649 |
Evaluate the clinical significance of the mutation at chromosome 5, position 45695884 in gene HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ATTGAGTGAAATTAAATGTTAAAAGTTCAGCATTTTTGCATGTTAATATTGAACCTGGTACATTTCTGGAAATACCACATTTATTTTTGCTATTAAGACTGGAGACTTTTTTCATGTAAGTTATTTTCATTTAAAAATTTTAAAATGAGGTGAAATATATTTCCATTGGGGACTGAGGAAAAGATAATATTCTATACTTGATTCCCACCTTTAAAATTCTAAAGAACATGACAACCTTATACATCTTAGAACAGGGTCATTTATAAGTTTGCTTCCCTATCTTCCTACTGGAGGAAACAGGTTTGATTATTTATTACATC... | ATTGAGTGAAATTAAATGTTAAAAGTTCAGCATTTTTGCATGTTAATATTGAACCTGGTACATTTCTGGAAATACCACATTTATTTTTGCTATTAAGACTGGAGACTTTTTTCATGTAAGTTATTTTCATTTAAAAATTTTAAAATGAGGTGAAATATATTTCCATTGGGGACTGAGGAAAAGATAATATTCTATACTTGATTCCCACCTTTAAAATTCTAAAGAACATGACAACCTTATACATCTTAGAACAGGGTCATTTATAAGTTTGCTTCCCTATCTTCCTACTGGAGGAAACAGGTTTGATTATTTATTACATC... | benign | 92,650 |
Clinical classification of chromosome 5, position 53098188, gene MOCS2: benign or pathogenic? Disease(s) if pathogenic? | benign | CGAACTACATCACACAAATCATTCTTGAGAGATCTTCACTGTACCAGGTGCTCAGTAACTGTGTAAGATGTCTAAATCACTTATTTCTCAAAAAAGGCTGAAAATATATTGTGACTCTATACATCATATCCAAAGGACAAAAATGTCCACAAAATAAGTCACTCATTGAATATCTGCTGTTACTTTCATTCAAAGATGATAAAAATCAATTTCATTTTACCACCTGTTCAAAAATACTTGAAACATAAATAATTTGAATTTCCTATTTCTTAAGTGAACTTACCTAGCAATCATGCAAAGTCACGGCTTTAAAGTGACCA... | CGAACTACATCACACAAATCATTCTTGAGAGATCTTCACTGTACCAGGTGCTCAGTAACTGTGTAAGATGTCTAAATCACTTATTTCTCAAAAAAGGCTGAAAATATATTGTGACTCTATACATCATATCCAAAGGACAAAAATGTCCACAAAATAAGTCACTCATTGAATATCTGCTGTTACTTTCATTCAAAGATGATAAAAATCAATTTCATTTTACCACCTGTTCAAAAATACTTGAAACATAAATAATTTGAATTTCCTATTTCTTAAGTGAACTTACCTAGCAATCATGCAAAGTCACGGCTTTAAAGTGACCA... | benign | 92,761 |
Determine if the mutation at chromosome 5, position 53098628 in gene MOCS2 (molybdenum cofactor synthesis 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Abnormality_of_metabolism/homeostasis', 'Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_B'] | TTAATATCTGAACCACCAATTAACTCTGCCACTCCTAAGTAAGCAAGGGTCAGTAAAGATCCTATCTAAGTCAAGTGCAATGCACTAAAATCTTTCAAGGCCATTCCATCCCAGTTCTGGCATGCCCCAGGTTAACTCCTTAACCTCTCTGTTGGAGACTTTAAAAGCATAACAGTCTCAGTTCCAAACTTAGAATAAAGCCTACTTAATGAAGGCATGATTCTTTTAAAACATAAAGAATGTTCTATGTTCTTTAAAAACATCATTACCCTCAATAAGGAACTTCTAAAGAAATATCTAAGTAGGAAAGTCTTGAAATC... | TTAATATCTGAACCACCAATTAACTCTGCCACTCCTAAGTAAGCAAGGGTCAGTAAAGATCCTATCTAAGTCAAGTGCAATGCACTAAAATCTTTCAAGGCCATTCCATCCCAGTTCTGGCATGCCCCAGGTTAACTCCTTAACCTCTCTGTTGGAGACTTTAAAAGCATAACAGTCTCAGTTCCAAACTTAGAATAAAGCCTACTTAATGAAGGCATGATTCTTTTAAAACATAAAGAATGTTCTATGTTCTTTAAAAACATCATTACCCTCAATAAGGAACTTCTAAAGAAATATCTAAGTAGGAAAGTCTTGAAATC... | pathogenic | 92,764 |
Variant chromosome 5, position 53100442, gene MOCS2 (molybdenum cofactor synthesis 2): benign or pathogenic? Disease(s)? | pathogenic; ['Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_B'] | CAGTCCTCCTTCTATCTTTAGTTCCATTTTAAATAACCCTTCATCCTACATACCCATTTATCTTGCTTCCTTTTTCTCCCTTTTGTCCCACTAGTATAAGAGATTGTGCTTCAGTAAACTATCCTGATGTGGAGAGAAAAAAATCAAAATGTGATCAATAATAATAGTTTAACAAAGTTAAGATTGCATGCTCTAAAAACATAAGTGATTAACTGTTGGATGCCCAAAAGCACTCTTTGTTTCCTTTCCAAGTTGATGACTCTTCGTATATTTCCTAAAAAACAAAATCATAACAGGTATTAAAAATAGACCATTCTACT... | CAGTCCTCCTTCTATCTTTAGTTCCATTTTAAATAACCCTTCATCCTACATACCCATTTATCTTGCTTCCTTTTTCTCCCTTTTGTCCCACTAGTATAAGAGATTGTGCTTCAGTAAACTATCCTGATGTGGAGAGAAAAAAATCAAAATGTGATCAATAATAATAGTTTAACAAAGTTAAGATTGCATGCTCTAAAAACATAAGTGATTAACTGTTGGATGCCCAAAAGCACTCTTTGTTTCCTTTCCAAGTTGATGACTCTTCGTATATTTCCTAAAAAACAAAATCATAACAGGTATTAAAAATAGACCATTCTACT... | pathogenic | 92,768 |
Chromosome 5, position 53102137, gene MOCS2 (molybdenum cofactor synthesis 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_B'] | GCATTATTCTCACTCTCCAACAGAAAGACCCTCTAATTCAAGGGAATTATAATCCAAGGAAAATAACTTCATGTATGAACCCCTCCAACAGTCCAGACTAGGAATTCTCACTGTTATCACTCATTGAGGCTTACTGTGTGCCATGCATTCTTTGGGGCACATATTTTTCATGCTTAACAAATCTTGGAAAGAAGATATTTCACAGATAAAGAAAACAAGATACTACAGTCAGTAAAAAGTCCATAAATATGGGGGGATTTATCTAAAAATTCCTGAGAAAAATCAGGTCCACATGCTAAAATGTGTTATTTTCTTAACTT... | GCATTATTCTCACTCTCCAACAGAAAGACCCTCTAATTCAAGGGAATTATAATCCAAGGAAAATAACTTCATGTATGAACCCCTCCAACAGTCCAGACTAGGAATTCTCACTGTTATCACTCATTGAGGCTTACTGTGTGCCATGCATTCTTTGGGGCACATATTTTTCATGCTTAACAAATCTTGGAAAGAAGATATTTCACAGATAAAGAAAACAAGATACTACAGTCAGTAAAAAGTCCATAAATATGGGGGGATTTATCTAAAAATTCCTGAGAAAAATCAGGTCCACATGCTAAAATGTGTTATTTTCTTAACTT... | pathogenic | 92,775 |
Is the variant located on chromosome 5 at position 53102215, gene MOCS2 (molybdenum cofactor synthesis 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_B'] | ACCCCTCCAACAGTCCAGACTAGGAATTCTCACTGTTATCACTCATTGAGGCTTACTGTGTGCCATGCATTCTTTGGGGCACATATTTTTCATGCTTAACAAATCTTGGAAAGAAGATATTTCACAGATAAAGAAAACAAGATACTACAGTCAGTAAAAAGTCCATAAATATGGGGGGATTTATCTAAAAATTCCTGAGAAAAATCAGGTCCACATGCTAAAATGTGTTATTTTCTTAACTTACCTTTTTCCATATGGGCACCTTGGCTTTTAAAGTATCAATGGCATAGCTCACAGCTTCAAGAGATGCAGCTCTGTGG... | ACCCCTCCAACAGTCCAGACTAGGAATTCTCACTGTTATCACTCATTGAGGCTTACTGTGTGCCATGCATTCTTTGGGGCACATATTTTTCATGCTTAACAAATCTTGGAAAGAAGATATTTCACAGATAAAGAAAACAAGATACTACAGTCAGTAAAAAGTCCATAAATATGGGGGGATTTATCTAAAAATTCCTGAGAAAAATCAGGTCCACATGCTAAAATGTGTTATTTTCTTAACTTACCTTTTTCCATATGGGCACCTTGGCTTTTAAAGTATCAATGGCATAGCTCACAGCTTCAAGAGATGCAGCTCTGTGG... | pathogenic | 92,779 |
Evaluate this variant at chromosome 5, position 53107109, gene MOCS2 (molybdenum cofactor synthesis 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_B'] | AGCCACCTGCAACACAGCCATAACAATAAAGCTATTCCTTTAGTCCTGGGCAATGATTAGCTCTCTTTTCAGGCATTATTAGCTGTGAAATTTTTCTACATTTTCCATGGCCGGGAGAGCTATTATCTAGTATTAGTAAGTGTGGTTGGAAAAAAGTACACAGACAGTCCAATAATATGAGTTCAAATGCTGTCTTTTGAAAACCTCTTGAATCCTCAGCAAAAAGAACAAAGCTGGAGGCATTACACTACCCAACTTCAAACTATACCACAGGGCTACAGTAACCAAAACAGCATGGGACTGGTACAAAACAGGACACA... | AGCCACCTGCAACACAGCCATAACAATAAAGCTATTCCTTTAGTCCTGGGCAATGATTAGCTCTCTTTTCAGGCATTATTAGCTGTGAAATTTTTCTACATTTTCCATGGCCGGGAGAGCTATTATCTAGTATTAGTAAGTGTGGTTGGAAAAAAGTACACAGACAGTCCAATAATATGAGTTCAAATGCTGTCTTTTGAAAACCTCTTGAATCCTCAGCAAAAAGAACAAAGCTGGAGGCATTACACTACCCAACTTCAAACTATACCACAGGGCTACAGTAACCAAAACAGCATGGGACTGGTACAAAACAGGACACA... | pathogenic | 92,782 |
The genetic variant at chromosome 5, position 53108627, affecting gene MOCS2 (molybdenum cofactor synthesis 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_B'] | GAAAAAATAACTGATGGGCACTAGACTTAATACCTGGGTGACAAAATTATCTGTACAAGAAACCGCCATGATACAAGTTCCCCTGAACTTAAAAGTTAAATAAATTCTTTTTAATTTGGCTCTTTCACTTATTAGCTATGTGATTAGCTATGTGATCAAAGGCAAGTTTTTTAAGTCTTCTGAATTTGTTTTTTTACCTGCAAAATATGGATATTAATATGTCACTGTGCCTGACACATAAGATCTCAATAAACCATGTTAAATGAAACATATCAAACTGATATGTTTATTGTAATTAAACTGCTTACAATAGACTTGAT... | GAAAAAATAACTGATGGGCACTAGACTTAATACCTGGGTGACAAAATTATCTGTACAAGAAACCGCCATGATACAAGTTCCCCTGAACTTAAAAGTTAAATAAATTCTTTTTAATTTGGCTCTTTCACTTATTAGCTATGTGATTAGCTATGTGATCAAAGGCAAGTTTTTTAAGTCTTCTGAATTTGTTTTTTTACCTGCAAAATATGGATATTAATATGTCACTGTGCCTGACACATAAGATCTCAATAAACCATGTTAAATGAAACATATCAAACTGATATGTTTATTGTAATTAAACTGCTTACAATAGACTTGAT... | pathogenic | 92,787 |
Evaluate this variant at chromosome 5, position 53560687, gene NDUFS4: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Mitochondrial_complex_I_deficiency,_nuclear_type_1'] | AAAATGTACAGGTAAAAAACCAAATAATGCTAATTAGAAAATGGGCAAAAGACATAAGGACATTTAACTGAATGGAATATACAGATGGCAGATAAAAACATGAAAAGATATTCAACATTATTAGCCACCAGGGGAATAAATGTAAAACTGTGATGAGGTATTACTGCACATTTATTATTTACTTTAGCTCAGCTAAAACAAAAATAGCAATAATAGAAAATGCTGGTGAGGATATGGAGAAACTGGATCTCTCATACATTGCTGGAGGAAATGTAAAATGTTACAGTTACTCTGGAAAACAGTTTTTAATTTCTTTAAAA... | AAAATGTACAGGTAAAAAACCAAATAATGCTAATTAGAAAATGGGCAAAAGACATAAGGACATTTAACTGAATGGAATATACAGATGGCAGATAAAAACATGAAAAGATATTCAACATTATTAGCCACCAGGGGAATAAATGTAAAACTGTGATGAGGTATTACTGCACATTTATTATTTACTTTAGCTCAGCTAAAACAAAAATAGCAATAATAGAAAATGCTGGTGAGGATATGGAGAAACTGGATCTCTCATACATTGCTGGAGGAAATGTAAAATGTTACAGTTACTCTGGAAAACAGTTTTTAATTTCTTTAAAA... | pathogenic | 92,797 |
Classify the chromosome 5 variant at position 53646275 affecting gene NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Leigh_syndrome', 'Mitochondrial_complex_I_deficiency,_nuclear_type_1'] | AGAGTTTAATGTGTTTCCTTTCATATAGTTTTAAAAATAGACATAACTTACAGCTCCAGCTTTTATGAGCTCAGCTCAGAACAGAGGGGATGCTTTGGAATTTGGAAAAGATGCCCCACCCCATAATTCTATAACATGCTTATAGTGTTTGTTTATACCCAGCTTAAGCTGTAGCTGAGGAAACGAGACAGATTAATCTAAAGATATATAATATTAAATAATAAACTACTATGGCAGATTGCAAGTATTACAGTGAATTCAAAGGAGGAATTAAACATTGAGGACTTCCCAGGAGTTGAGCCACTTTAAGCTCTTAAATA... | AGAGTTTAATGTGTTTCCTTTCATATAGTTTTAAAAATAGACATAACTTACAGCTCCAGCTTTTATGAGCTCAGCTCAGAACAGAGGGGATGCTTTGGAATTTGGAAAAGATGCCCCACCCCATAATTCTATAACATGCTTATAGTGTTTGTTTATACCCAGCTTAAGCTGTAGCTGAGGAAACGAGACAGATTAATCTAAAGATATATAATATTAAATAATAAACTACTATGGCAGATTGCAAGTATTACAGTGAATTCAAAGGAGGAATTAAACATTGAGGACTTCCCAGGAGTTGAGCCACTTTAAGCTCTTAAATA... | pathogenic | 92,802 |
Clinical significance of chromosome 5, position 53646344, gene NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Leigh_syndrome', 'Mitochondrial_complex_I_deficiency,_nuclear_type_1'] | CTCAGCTCAGAACAGAGGGGATGCTTTGGAATTTGGAAAAGATGCCCCACCCCATAATTCTATAACATGCTTATAGTGTTTGTTTATACCCAGCTTAAGCTGTAGCTGAGGAAACGAGACAGATTAATCTAAAGATATATAATATTAAATAATAAACTACTATGGCAGATTGCAAGTATTACAGTGAATTCAAAGGAGGAATTAAACATTGAGGACTTCCCAGGAGTTGAGCCACTTTAAGCTCTTAAATAGAGAATATATGCTTCAGGAAGTCATTAAATATAATAATACTTAAACTTTTTTTGAAGTTGAACCTGAAT... | CTCAGCTCAGAACAGAGGGGATGCTTTGGAATTTGGAAAAGATGCCCCACCCCATAATTCTATAACATGCTTATAGTGTTTGTTTATACCCAGCTTAAGCTGTAGCTGAGGAAACGAGACAGATTAATCTAAAGATATATAATATTAAATAATAAACTACTATGGCAGATTGCAAGTATTACAGTGAATTCAAAGGAGGAATTAAACATTGAGGACTTCCCAGGAGTTGAGCCACTTTAAGCTCTTAAATAGAGAATATATGCTTCAGGAAGTCATTAAATATAATAATACTTAAACTTTTTTTGAAGTTGAACCTGAAT... | pathogenic | 92,803 |
The genetic variant at chromosome 5, position 53646373, affecting gene NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Mitochondrial_complex_I_deficiency,_nuclear_type_1'] | AATTTGGAAAAGATGCCCCACCCCATAATTCTATAACATGCTTATAGTGTTTGTTTATACCCAGCTTAAGCTGTAGCTGAGGAAACGAGACAGATTAATCTAAAGATATATAATATTAAATAATAAACTACTATGGCAGATTGCAAGTATTACAGTGAATTCAAAGGAGGAATTAAACATTGAGGACTTCCCAGGAGTTGAGCCACTTTAAGCTCTTAAATAGAGAATATATGCTTCAGGAAGTCATTAAATATAATAATACTTAAACTTTTTTTGAAGTTGAACCTGAATATTAGAAATTACCAATTAAAGTATTTCAC... | AATTTGGAAAAGATGCCCCACCCCATAATTCTATAACATGCTTATAGTGTTTGTTTATACCCAGCTTAAGCTGTAGCTGAGGAAACGAGACAGATTAATCTAAAGATATATAATATTAAATAATAAACTACTATGGCAGATTGCAAGTATTACAGTGAATTCAAAGGAGGAATTAAACATTGAGGACTTCCCAGGAGTTGAGCCACTTTAAGCTCTTAAATAGAGAATATATGCTTCAGGAAGTCATTAAATATAATAATACTTAAACTTTTTTTGAAGTTGAACCTGAATATTAGAAATTACCAATTAAAGTATTTCAC... | pathogenic | 92,806 |
Located at chromosome 5 position 53658590, the variant affecting gene NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Mitochondrial_complex_I_deficiency,_nuclear_type_1'] | GAACAAATTGAACTGATGGGAAAGTACACCTTGCATTTATAAAAACAATTAGCAACCTGATTTGACTAGTTGGTTACTTCTCAGGGGAGTAATTAAAAAGAAGGCTAGAAAGTAGTTCTGTCCATATTATAGAAGTGCTTAAATGCCAAGGTAGAAGACTGAAGTTAATGTGATAGACAGTGAAAACTGTTTGAAATTTTTGAACTGGGCAGAGAGTGAGTTTGGGATTTGAACTTTAGGAAGACATCTTGGTGAAGGGTGGATTGGAGTCAAGGAGGCAGAAAGATTAGTTAGGATGGGGTTATGGGAATAATGAAAAA... | GAACAAATTGAACTGATGGGAAAGTACACCTTGCATTTATAAAAACAATTAGCAACCTGATTTGACTAGTTGGTTACTTCTCAGGGGAGTAATTAAAAAGAAGGCTAGAAAGTAGTTCTGTCCATATTATAGAAGTGCTTAAATGCCAAGGTAGAAGACTGAAGTTAATGTGATAGACAGTGAAAACTGTTTGAAATTTTTGAACTGGGCAGAGAGTGAGTTTGGGATTTGAACTTTAGGAAGACATCTTGGTGAAGGGTGGATTGGAGTCAAGGAGGCAGAAAGATTAGTTAGGATGGGGTTATGGGAATAATGAAAAA... | pathogenic | 92,813 |
Evaluate this variant at chromosome 5, position 53658638, gene NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TTAGCAACCTGATTTGACTAGTTGGTTACTTCTCAGGGGAGTAATTAAAAAGAAGGCTAGAAAGTAGTTCTGTCCATATTATAGAAGTGCTTAAATGCCAAGGTAGAAGACTGAAGTTAATGTGATAGACAGTGAAAACTGTTTGAAATTTTTGAACTGGGCAGAGAGTGAGTTTGGGATTTGAACTTTAGGAAGACATCTTGGTGAAGGGTGGATTGGAGTCAAGGAGGCAGAAAGATTAGTTAGGATGGGGTTATGGGAATAATGAAAAAGAGCTTAAACTGGTGGTGACAGCATACCTAAAAAAGAACTACAAAATA... | TTAGCAACCTGATTTGACTAGTTGGTTACTTCTCAGGGGAGTAATTAAAAAGAAGGCTAGAAAGTAGTTCTGTCCATATTATAGAAGTGCTTAAATGCCAAGGTAGAAGACTGAAGTTAATGTGATAGACAGTGAAAACTGTTTGAAATTTTTGAACTGGGCAGAGAGTGAGTTTGGGATTTGAACTTTAGGAAGACATCTTGGTGAAGGGTGGATTGGAGTCAAGGAGGCAGAAAGATTAGTTAGGATGGGGTTATGGGAATAATGAAAAAGAGCTTAAACTGGTGGTGACAGCATACCTAAAAAAGAACTACAAAATA... | benign | 92,815 |
Is chromosome 5, position 53683151, gene NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Inborn_genetic_diseases', 'Leigh_syndrome', 'Mitochondrial_complex_I_deficiency,_nuclear_type_1'] | AGTTGTGAATCAAATTTGAGGACCAAATAATACTTAACATTTATTGAGTGCCTACTATAAACCACAAGAGACAATGTAGCATAATAGGTAAGTTGTAGCCTCCAGAATCTGGCCGTCTGTGTTTAAATCCTGATTCTGCCCCTTCTTTGCTGAGTGACCTTATGCTAGTTACCTAACCTCTCTGAGCCTCAGTTTACTCACCTGTACAAGGGGAATAATATTACTTCATATAAAGGTTTTAGGAAAAGTTCTTTCTCATAGAACTCAATAAATGATTGTTAAGTCAGGGTGCTTTCTAAGCACTTTACATGAATTATCAC... | AGTTGTGAATCAAATTTGAGGACCAAATAATACTTAACATTTATTGAGTGCCTACTATAAACCACAAGAGACAATGTAGCATAATAGGTAAGTTGTAGCCTCCAGAATCTGGCCGTCTGTGTTTAAATCCTGATTCTGCCCCTTCTTTGCTGAGTGACCTTATGCTAGTTACCTAACCTCTCTGAGCCTCAGTTTACTCACCTGTACAAGGGGAATAATATTACTTCATATAAAGGTTTTAGGAAAAGTTCTTTCTCATAGAACTCAATAAATGATTGTTAAGTCAGGGTGCTTTCTAAGCACTTTACATGAATTATCAC... | pathogenic | 92,820 |
Chromosome 5, position 53683157, gene NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Leigh_syndrome', 'Mitochondrial_complex_I_deficiency,_nuclear_type_1'] | GAATCAAATTTGAGGACCAAATAATACTTAACATTTATTGAGTGCCTACTATAAACCACAAGAGACAATGTAGCATAATAGGTAAGTTGTAGCCTCCAGAATCTGGCCGTCTGTGTTTAAATCCTGATTCTGCCCCTTCTTTGCTGAGTGACCTTATGCTAGTTACCTAACCTCTCTGAGCCTCAGTTTACTCACCTGTACAAGGGGAATAATATTACTTCATATAAAGGTTTTAGGAAAAGTTCTTTCTCATAGAACTCAATAAATGATTGTTAAGTCAGGGTGCTTTCTAAGCACTTTACATGAATTATCACATCCTT... | GAATCAAATTTGAGGACCAAATAATACTTAACATTTATTGAGTGCCTACTATAAACCACAAGAGACAATGTAGCATAATAGGTAAGTTGTAGCCTCCAGAATCTGGCCGTCTGTGTTTAAATCCTGATTCTGCCCCTTCTTTGCTGAGTGACCTTATGCTAGTTACCTAACCTCTCTGAGCCTCAGTTTACTCACCTGTACAAGGGGAATAATATTACTTCATATAAAGGTTTTAGGAAAAGTTCTTTCTCATAGAACTCAATAAATGATTGTTAAGTCAGGGTGCTTTCTAAGCACTTTACATGAATTATCACATCCTT... | pathogenic | 92,821 |
Clinical classification of chromosome 5, position 53683163, gene NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Leigh_syndrome', 'Mitochondrial_complex_I_deficiency,_nuclear_type_1'] | AATTTGAGGACCAAATAATACTTAACATTTATTGAGTGCCTACTATAAACCACAAGAGACAATGTAGCATAATAGGTAAGTTGTAGCCTCCAGAATCTGGCCGTCTGTGTTTAAATCCTGATTCTGCCCCTTCTTTGCTGAGTGACCTTATGCTAGTTACCTAACCTCTCTGAGCCTCAGTTTACTCACCTGTACAAGGGGAATAATATTACTTCATATAAAGGTTTTAGGAAAAGTTCTTTCTCATAGAACTCAATAAATGATTGTTAAGTCAGGGTGCTTTCTAAGCACTTTACATGAATTATCACATCCTTATGAAG... | AATTTGAGGACCAAATAATACTTAACATTTATTGAGTGCCTACTATAAACCACAAGAGACAATGTAGCATAATAGGTAAGTTGTAGCCTCCAGAATCTGGCCGTCTGTGTTTAAATCCTGATTCTGCCCCTTCTTTGCTGAGTGACCTTATGCTAGTTACCTAACCTCTCTGAGCCTCAGTTTACTCACCTGTACAAGGGGAATAATATTACTTCATATAAAGGTTTTAGGAAAAGTTCTTTCTCATAGAACTCAATAAATGATTGTTAAGTCAGGGTGCTTTCTAAGCACTTTACATGAATTATCACATCCTTATGAAG... | pathogenic | 92,822 |
Does the variant impacting MCIDAS (multiciliate differentiation and DNA synthesis associated cell cycle protein) on chromosome 5, position 55226672, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GTCTCATGAGGAGACTGGAGGCCAACTCAGGAACTGGGGCCCTGGAAATGCTACCTCTTATGCCAATCCAGGTGTTGGTCCATTCTGAACCTCAAACATTTCTAGAGCACTTCCTCTCTCTGTCCACCTTTCCCAGCAGGAAAGGAATGGGGAAATGTGATCTGAGTGTCCCAGGGGTCTCCCTGAGTGTTTCTCCCCTGGGGGCCTCTTTCCTCTGAACTAGCTCTGTCTTTCCCAGGAAAATTCCTGGATTTTTTGGTCCATCTGATGTGAGCTCTGTCCTTGAAACTTCGAGGCTGGGCATAGTGGCTCATGCCTGT... | GTCTCATGAGGAGACTGGAGGCCAACTCAGGAACTGGGGCCCTGGAAATGCTACCTCTTATGCCAATCCAGGTGTTGGTCCATTCTGAACCTCAAACATTTCTAGAGCACTTCCTCTCTCTGTCCACCTTTCCCAGCAGGAAAGGAATGGGGAAATGTGATCTGAGTGTCCCAGGGGTCTCCCTGAGTGTTTCTCCCCTGGGGGCCTCTTTCCTCTGAACTAGCTCTGTCTTTCCCAGGAAAATTCCTGGATTTTTTGGTCCATCTGATGTGAGCTCTGTCCTTGAAACTTCGAGGCTGGGCATAGTGGCTCATGCCTGT... | benign | 92,853 |
Variant chromosome 5, position 55232389, gene CCNO (cyclin O): benign or pathogenic? Disease(s)? | pathogenic; ['Primary_ciliary_dyskinesia'] | TGACTGAGGTACAGACTGCGCTGGCTCTCCAGATGTGTTCTCTATAGTCCCTACTGAATGGGGAGCACTGAGTAAATAACTGCCACCTATCTCAGGAAGAGGGTGTTTTGAGAATTACCAGAAACCTGTAAGTGGGGGACATTTAGCAGTGTGGCTAAGAGTGGGACTCTAGACTCAGATCCCGGCTACTCCACTGTTGTTTAATGGTTCTGTGCTCCAGCATCCTCCTCTGAAAAATGGGATAATAGACTCTGCTCCATAGAGTTGCTGGAAGAATGAAATAAATGCTGAACACAGTACTTAGGACATACTTAATGCTC... | TGACTGAGGTACAGACTGCGCTGGCTCTCCAGATGTGTTCTCTATAGTCCCTACTGAATGGGGAGCACTGAGTAAATAACTGCCACCTATCTCAGGAAGAGGGTGTTTTGAGAATTACCAGAAACCTGTAAGTGGGGGACATTTAGCAGTGTGGCTAAGAGTGGGACTCTAGACTCAGATCCCGGCTACTCCACTGTTGTTTAATGGTTCTGTGCTCCAGCATCCTCCTCTGAAAAATGGGATAATAGACTCTGCTCCATAGAGTTGCTGGAAGAATGAAATAAATGCTGAACACAGTACTTAGGACATACTTAATGCTC... | pathogenic | 92,861 |
A genetic variant on chromosome 5, position 55232500, affects the gene CCNO (cyclin O). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_29'] | GAATTACCAGAAACCTGTAAGTGGGGGACATTTAGCAGTGTGGCTAAGAGTGGGACTCTAGACTCAGATCCCGGCTACTCCACTGTTGTTTAATGGTTCTGTGCTCCAGCATCCTCCTCTGAAAAATGGGATAATAGACTCTGCTCCATAGAGTTGCTGGAAGAATGAAATAAATGCTGAACACAGTACTTAGGACATACTTAATGCTCAATATAGCCATTATGACTATTATGCCAGTTACTTTGGGCTCACATGTCGTAGCATGAACAGTTGGACCACGTGATTGCAGGGTAAATGGGCTCAACCTGCAATGGCTGTGA... | GAATTACCAGAAACCTGTAAGTGGGGGACATTTAGCAGTGTGGCTAAGAGTGGGACTCTAGACTCAGATCCCGGCTACTCCACTGTTGTTTAATGGTTCTGTGCTCCAGCATCCTCCTCTGAAAAATGGGATAATAGACTCTGCTCCATAGAGTTGCTGGAAGAATGAAATAAATGCTGAACACAGTACTTAGGACATACTTAATGCTCAATATAGCCATTATGACTATTATGCCAGTTACTTTGGGCTCACATGTCGTAGCATGAACAGTTGGACCACGTGATTGCAGGGTAAATGGGCTCAACCTGCAATGGCTGTGA... | pathogenic | 92,862 |
Does the genetic variant at chromosome 5, position 55233255, impacting gene CCNO, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_29'] | CTGCAAAATAAATAAAATACCAGATGCTAGTATCGTACACTATTTACAACCTGCAGCTGACCAAGCAGGTCCTGAAGCCTTCTCTGTGGACCAGTACTGCACTCTTCTGAGGCTACGGGAGAGGTCCAGCAGCCGGGCCAGGGACTAAAAGGAAACGAAGGATCTGTTTTATTTCGAGCTCGGGGGCAGGCTGCACTTCTCGCAGATCTGAACGGGCAGCATGTGAGTCAAGGAAGTACTGTTTATGGCCACCAGCAGCTGCAACTTGCCCATACAGTCCTCCAGCGCCGCCTCCGGGTGGTCTCCCAGTCGCAAGTCCA... | CTGCAAAATAAATAAAATACCAGATGCTAGTATCGTACACTATTTACAACCTGCAGCTGACCAAGCAGGTCCTGAAGCCTTCTCTGTGGACCAGTACTGCACTCTTCTGAGGCTACGGGAGAGGTCCAGCAGCCGGGCCAGGGACTAAAAGGAAACGAAGGATCTGTTTTATTTCGAGCTCGGGGGCAGGCTGCACTTCTCGCAGATCTGAACGGGCAGCATGTGAGTCAAGGAAGTACTGTTTATGGCCACCAGCAGCTGCAACTTGCCCATACAGTCCTCCAGCGCCGCCTCCGGGTGGTCTCCCAGTCGCAAGTCCA... | pathogenic | 92,867 |
Regarding the variant at chromosome 5 and position 55233256, affecting gene CCNO: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_29'] | TGCAAAATAAATAAAATACCAGATGCTAGTATCGTACACTATTTACAACCTGCAGCTGACCAAGCAGGTCCTGAAGCCTTCTCTGTGGACCAGTACTGCACTCTTCTGAGGCTACGGGAGAGGTCCAGCAGCCGGGCCAGGGACTAAAAGGAAACGAAGGATCTGTTTTATTTCGAGCTCGGGGGCAGGCTGCACTTCTCGCAGATCTGAACGGGCAGCATGTGAGTCAAGGAAGTACTGTTTATGGCCACCAGCAGCTGCAACTTGCCCATACAGTCCTCCAGCGCCGCCTCCGGGTGGTCTCCCAGTCGCAAGTCCAC... | TGCAAAATAAATAAAATACCAGATGCTAGTATCGTACACTATTTACAACCTGCAGCTGACCAAGCAGGTCCTGAAGCCTTCTCTGTGGACCAGTACTGCACTCTTCTGAGGCTACGGGAGAGGTCCAGCAGCCGGGCCAGGGACTAAAAGGAAACGAAGGATCTGTTTTATTTCGAGCTCGGGGGCAGGCTGCACTTCTCGCAGATCTGAACGGGCAGCATGTGAGTCAAGGAAGTACTGTTTATGGCCACCAGCAGCTGCAACTTGCCCATACAGTCCTCCAGCGCCGCCTCCGGGTGGTCTCCCAGTCGCAAGTCCAC... | pathogenic | 92,868 |
Is the genetic mutation found on chromosome 5 at position 55233261, within the gene CCNO, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_29'] | AATAAATAAAATACCAGATGCTAGTATCGTACACTATTTACAACCTGCAGCTGACCAAGCAGGTCCTGAAGCCTTCTCTGTGGACCAGTACTGCACTCTTCTGAGGCTACGGGAGAGGTCCAGCAGCCGGGCCAGGGACTAAAAGGAAACGAAGGATCTGTTTTATTTCGAGCTCGGGGGCAGGCTGCACTTCTCGCAGATCTGAACGGGCAGCATGTGAGTCAAGGAAGTACTGTTTATGGCCACCAGCAGCTGCAACTTGCCCATACAGTCCTCCAGCGCCGCCTCCGGGTGGTCTCCCAGTCGCAAGTCCACGGGCC... | AATAAATAAAATACCAGATGCTAGTATCGTACACTATTTACAACCTGCAGCTGACCAAGCAGGTCCTGAAGCCTTCTCTGTGGACCAGTACTGCACTCTTCTGAGGCTACGGGAGAGGTCCAGCAGCCGGGCCAGGGACTAAAAGGAAACGAAGGATCTGTTTTATTTCGAGCTCGGGGGCAGGCTGCACTTCTCGCAGATCTGAACGGGCAGCATGTGAGTCAAGGAAGTACTGTTTATGGCCACCAGCAGCTGCAACTTGCCCATACAGTCCTCCAGCGCCGCCTCCGGGTGGTCTCCCAGTCGCAAGTCCACGGGCC... | pathogenic | 92,869 |
A genetic alteration at chromosome 5, position 55233271, in gene CCNO—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_29'] | ATACCAGATGCTAGTATCGTACACTATTTACAACCTGCAGCTGACCAAGCAGGTCCTGAAGCCTTCTCTGTGGACCAGTACTGCACTCTTCTGAGGCTACGGGAGAGGTCCAGCAGCCGGGCCAGGGACTAAAAGGAAACGAAGGATCTGTTTTATTTCGAGCTCGGGGGCAGGCTGCACTTCTCGCAGATCTGAACGGGCAGCATGTGAGTCAAGGAAGTACTGTTTATGGCCACCAGCAGCTGCAACTTGCCCATACAGTCCTCCAGCGCCGCCTCCGGGTGGTCTCCCAGTCGCAAGTCCACGGGCCGCGAGACCCG... | ATACCAGATGCTAGTATCGTACACTATTTACAACCTGCAGCTGACCAAGCAGGTCCTGAAGCCTTCTCTGTGGACCAGTACTGCACTCTTCTGAGGCTACGGGAGAGGTCCAGCAGCCGGGCCAGGGACTAAAAGGAAACGAAGGATCTGTTTTATTTCGAGCTCGGGGGCAGGCTGCACTTCTCGCAGATCTGAACGGGCAGCATGTGAGTCAAGGAAGTACTGTTTATGGCCACCAGCAGCTGCAACTTGCCCATACAGTCCTCCAGCGCCGCCTCCGGGTGGTCTCCCAGTCGCAAGTCCACGGGCCGCGAGACCCG... | pathogenic | 92,870 |
Does the variant impacting IL6ST (interleukin 6 cytokine family signal transducer) on chromosome 5, position 55947592, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AAACATGAGAAAATATTTTGATACTGTGTTTGGCAGGACACAAAACTCAGGAACCACAGAAAAAAAACTGATAAAATGAACTTCATCAAAATAAAAAACTTATGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTCAGACACTCTGTCACCCAGGTTGGAGTGCAGTGATGTGATCTTGGCTCACTGCAACCCATGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACTGACGTGTGCCACCATGCCCGGCTAAGTTTTTGTATTTTTAGTAGAGATGTTAGCCACTGTGTTAGCCAGGA... | AAACATGAGAAAATATTTTGATACTGTGTTTGGCAGGACACAAAACTCAGGAACCACAGAAAAAAAACTGATAAAATGAACTTCATCAAAATAAAAAACTTATGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTCAGACACTCTGTCACCCAGGTTGGAGTGCAGTGATGTGATCTTGGCTCACTGCAACCCATGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACTGACGTGTGCCACCATGCCCGGCTAAGTTTTTGTATTTTTAGTAGAGATGTTAGCCACTGTGTTAGCCAGGA... | benign | 92,891 |
Is the genetic variant on chromosome 5, position 56815806, gene MAP3K1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TTTATCCGTTTCAGTTTAGGATTTGGTGGGTGTGGCAACCCAGGAAGACCTGAGAAATAACCACTGTTTGGTTTGAATGATACATTTGACTGCCATTAAAATAGCATATAATTATAGCCTAAATGTAGACTTAATTTTTAACAGATTTATCTGAACTTTCAAAATTTGTACCGTTGGGTGTAACGATCTAAAACTATCTTATGGGAGATGTTACAGCAGTTTTCAAATCATTGAGCTAATATGAAATCTGGACTTTTTAAAACCCCTCTGATCTAACCTGGTTACGCAGTTAACATTGTATCTGGGAAAGGGGCTTTCAT... | TTTATCCGTTTCAGTTTAGGATTTGGTGGGTGTGGCAACCCAGGAAGACCTGAGAAATAACCACTGTTTGGTTTGAATGATACATTTGACTGCCATTAAAATAGCATATAATTATAGCCTAAATGTAGACTTAATTTTTAACAGATTTATCTGAACTTTCAAAATTTGTACCGTTGGGTGTAACGATCTAAAACTATCTTATGGGAGATGTTACAGCAGTTTTCAAATCATTGAGCTAATATGAAATCTGGACTTTTTAAAACCCCTCTGATCTAACCTGGTTACGCAGTTAACATTGTATCTGGGAAAGGGGCTTTCAT... | benign | 92,915 |
Chromosome 5, position 56864714, gene MAP3K1 (mitogen-activated protein kinase kinase kinase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TACGTATGTCATCTTGTACATCTGTGAGCATGTATCTGTGAACATATCCATAGGCTGGATACCTAGCAGGTCAAAATGACGTGTGCATGCATAATTGGCTTTTTTTGTTTGTTTTTACTTTTTAGTAACTGCTTTTTTAAAAATAATGGCTTTATTGATGTGTAATTCATCTACTGTACAATTCACCTGTTTAGATTGTACAATTCAGTGTTTTATAGTATATTCACAGGGTTGTGTAGCCATTATTACGGTCGGTTTTTAAACATCTTTATTACCCCAATAAGATATCCTAGACCTATTAGCAGTATTAAAGCAAAATA... | TACGTATGTCATCTTGTACATCTGTGAGCATGTATCTGTGAACATATCCATAGGCTGGATACCTAGCAGGTCAAAATGACGTGTGCATGCATAATTGGCTTTTTTTGTTTGTTTTTACTTTTTAGTAACTGCTTTTTTAAAAATAATGGCTTTATTGATGTGTAATTCATCTACTGTACAATTCACCTGTTTAGATTGTACAATTCAGTGTTTTATAGTATATTCACAGGGTTGTGTAGCCATTATTACGGTCGGTTTTTAAACATCTTTATTACCCCAATAAGATATCCTAGACCTATTAGCAGTATTAAAGCAAAATA... | benign | 92,929 |
Variant at chromosome position 56882021, chromosome 5, gene MAP3K1 (mitogen-activated protein kinase kinase kinase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CTACCTTTAACGAATTTCTCATATCATGAAGTCTGTCTTTTGCCTCTATTGTTTTCTCTATAGATTGAAAATATTGGATGTTTCCTTGTTGCTTAGAGAAAACATTGTATATCTGTAAAATATTGCAAATTAACAAGTAATTTGCAAAATGCATAGGAAAAATGTCATTTTTAAATATTAGAATAGGTATATTTCTGAGAATTCAGTGTTCTCATGGTATTTGTTATGCTGCTCACTTTTTGAAACTCCAAACTTAGGTTGTTTACCTGGTCACCTGAATGACTGAACATAAGAAATACTGTAGAGAGATTTTATAATAT... | CTACCTTTAACGAATTTCTCATATCATGAAGTCTGTCTTTTGCCTCTATTGTTTTCTCTATAGATTGAAAATATTGGATGTTTCCTTGTTGCTTAGAGAAAACATTGTATATCTGTAAAATATTGCAAATTAACAAGTAATTTGCAAAATGCATAGGAAAAATGTCATTTTTAAATATTAGAATAGGTATATTTCTGAGAATTCAGTGTTCTCATGGTATTTGTTATGCTGCTCACTTTTTGAAACTCCAAACTTAGGTTGTTTACCTGGTCACCTGAATGACTGAACATAAGAAATACTGTAGAGAGATTTTATAATAT... | benign | 92,947 |
Determine whether the variant at chromosome 5, position 58989926, in gene PDE4D (phosphodiesterase 4D) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CTACACAGGCTTTCTGTGCGGCAATGTCAGAGATGCTCCATATTAAACAGTCTCTACTATTCCTTATATTTCCAAATTCAGTGATGACTTCTTATAAGGTGAGATGTTAACAGTGAGAAAAAACCAAATGGTTGAAAAAATATTAAGAAGTTCCTGTTACCCTTATTAGAAGATTTTAAAAAGGAAAGAACAGGGGTTGGGCATGGAGGAGGAAGGGAAGCTATGGCCTCTGAAGAGGATTAAATGATGACCTACATAAAGTGAGGAACACTTACCATTAATTCTCATAACTTTTTTTTTAATTTAAAACTTTAGGGCCA... | CTACACAGGCTTTCTGTGCGGCAATGTCAGAGATGCTCCATATTAAACAGTCTCTACTATTCCTTATATTTCCAAATTCAGTGATGACTTCTTATAAGGTGAGATGTTAACAGTGAGAAAAAACCAAATGGTTGAAAAAATATTAAGAAGTTCCTGTTACCCTTATTAGAAGATTTTAAAAAGGAAAGAACAGGGGTTGGGCATGGAGGAGGAAGGGAAGCTATGGCCTCTGAAGAGGATTAAATGATGACCTACATAAAGTGAGGAACACTTACCATTAATTCTCATAACTTTTTTTTTAATTTAAAACTTTAGGGCCA... | benign | 93,007 |
Clinical significance of chromosome 5, position 58990910, gene PDE4D (phosphodiesterase 4D): benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATTTTAAAAGAAAATAATAGTTTATTTTCTAAATATTTAAGATGTCTAAGAATATTCTGAAAATGTACATAAAATTAGTAAGACATTAGCAATTATTTTCTTTCATCGAAACCAGGGTTTCTCAACTTCAGCACTATTGACATTTTGGGCCCAATAACTCTTTGCGTGGGAGGCTGTCCTGTGCATTGTAGGATTTTTAGCAGAATTCCTGGCCTCTACCAACAAGATGCCAGTATCATGTACAACTAAAAATGTGATAGTTGTGACAACCAAAAATGCCTCCAGACATTGCCAAATGTCCCTGGTGGTGGCAGGAGGGA... | ATTTTAAAAGAAAATAATAGTTTATTTTCTAAATATTTAAGATGTCTAAGAATATTCTGAAAATGTACATAAAATTAGTAAGACATTAGCAATTATTTTCTTTCATCGAAACCAGGGTTTCTCAACTTCAGCACTATTGACATTTTGGGCCCAATAACTCTTTGCGTGGGAGGCTGTCCTGTGCATTGTAGGATTTTTAGCAGAATTCCTGGCCTCTACCAACAAGATGCCAGTATCATGTACAACTAAAAATGTGATAGTTGTGACAACCAAAAATGCCTCCAGACATTGCCAAATGTCCCTGGTGGTGGCAGGAGGGA... | benign | 93,011 |
Clinically, how would you classify the variant at chromosome 5, position 60899665, gene ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cockayne_syndrome_type_1'] | TAGCCACATAAGAATATAGCACCTTCGAAATATATTTATTGCAGTAGTATTAAATAAAGTACTACATATTCTGGTACTATAAAATTCACTGTAAATTTTGTTTATAAGTCATATATAGTACAGGTTAAGTATCCCCATCCAAAATGATTTGGACTAGAAGTATTTTGGATTTTAGAATATTTGCTTTACTGCCTGAACATCCCTAATCTGAATATTCAAAATCTGAAATGTTCCAATGAGCACTTCCTTTGTGTGTCATGCTAGCACTCAAAAAGTTTCAGATTTTGGAACATTTCAGATTTCAGATTTTCAGATTAGGG... | TAGCCACATAAGAATATAGCACCTTCGAAATATATTTATTGCAGTAGTATTAAATAAAGTACTACATATTCTGGTACTATAAAATTCACTGTAAATTTTGTTTATAAGTCATATATAGTACAGGTTAAGTATCCCCATCCAAAATGATTTGGACTAGAAGTATTTTGGATTTTAGAATATTTGCTTTACTGCCTGAACATCCCTAATCTGAATATTCAAAATCTGAAATGTTCCAATGAGCACTTCCTTTGTGTGTCATGCTAGCACTCAAAAAGTTTCAGATTTTGGAACATTTCAGATTTCAGATTTTCAGATTAGGG... | pathogenic | 93,070 |
The mutation in gene ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit) at chromosome 5, position 60899693—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cockayne_syndrome_type_1'] | AATATATTTATTGCAGTAGTATTAAATAAAGTACTACATATTCTGGTACTATAAAATTCACTGTAAATTTTGTTTATAAGTCATATATAGTACAGGTTAAGTATCCCCATCCAAAATGATTTGGACTAGAAGTATTTTGGATTTTAGAATATTTGCTTTACTGCCTGAACATCCCTAATCTGAATATTCAAAATCTGAAATGTTCCAATGAGCACTTCCTTTGTGTGTCATGCTAGCACTCAAAAAGTTTCAGATTTTGGAACATTTCAGATTTCAGATTTTCAGATTAGGGATACTCAACCTATATAAAATTTGATTAC... | AATATATTTATTGCAGTAGTATTAAATAAAGTACTACATATTCTGGTACTATAAAATTCACTGTAAATTTTGTTTATAAGTCATATATAGTACAGGTTAAGTATCCCCATCCAAAATGATTTGGACTAGAAGTATTTTGGATTTTAGAATATTTGCTTTACTGCCTGAACATCCCTAATCTGAATATTCAAAATCTGAAATGTTCCAATGAGCACTTCCTTTGTGTGTCATGCTAGCACTCAAAAAGTTTCAGATTTTGGAACATTTCAGATTTCAGATTTTCAGATTAGGGATACTCAACCTATATAAAATTTGATTAC... | pathogenic | 93,071 |
Variant in gene ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit), located at chromosome 5 position 60899694: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cockayne_syndrome_type_1'] | ATATATTTATTGCAGTAGTATTAAATAAAGTACTACATATTCTGGTACTATAAAATTCACTGTAAATTTTGTTTATAAGTCATATATAGTACAGGTTAAGTATCCCCATCCAAAATGATTTGGACTAGAAGTATTTTGGATTTTAGAATATTTGCTTTACTGCCTGAACATCCCTAATCTGAATATTCAAAATCTGAAATGTTCCAATGAGCACTTCCTTTGTGTGTCATGCTAGCACTCAAAAAGTTTCAGATTTTGGAACATTTCAGATTTCAGATTTTCAGATTAGGGATACTCAACCTATATAAAATTTGATTACT... | ATATATTTATTGCAGTAGTATTAAATAAAGTACTACATATTCTGGTACTATAAAATTCACTGTAAATTTTGTTTATAAGTCATATATAGTACAGGTTAAGTATCCCCATCCAAAATGATTTGGACTAGAAGTATTTTGGATTTTAGAATATTTGCTTTACTGCCTGAACATCCCTAATCTGAATATTCAAAATCTGAAATGTTCCAATGAGCACTTCCTTTGTGTGTCATGCTAGCACTCAAAAAGTTTCAGATTTTGGAACATTTCAGATTTCAGATTTTCAGATTAGGGATACTCAACCTATATAAAATTTGATTACT... | pathogenic | 93,072 |
Is the genetic change at chromosome 5, position 60902442, within gene ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cockayne_syndrome', 'ERCC8-related_disorder'] | GGCAATCCGACGTGCTCCTAATCAGTTCAACTGATGCTATCATGTCCTCACAAGGACCTCAACAATATTGTAACCCAGGGGGCTTATCAATGCCATTTTAATAAGAGAGAGCATTACATTTTTATAAGCCTATTTTTTATTTAATTTTTTTAAAAAAATATACACACAAGGTTTACTGGTTTCTATAACCTCGATTCTTTTCACAGATGACCATCAAACCTAGCCAACTGGAATAGTTAGCAAAAAACTAGCATTACCCATTCTTAAGTTGGTTTTCTTTCTTTCCAGGTGAAGGAAATGAAATCAGTATGAGGATTTAA... | GGCAATCCGACGTGCTCCTAATCAGTTCAACTGATGCTATCATGTCCTCACAAGGACCTCAACAATATTGTAACCCAGGGGGCTTATCAATGCCATTTTAATAAGAGAGAGCATTACATTTTTATAAGCCTATTTTTTATTTAATTTTTTTAAAAAAATATACACACAAGGTTTACTGGTTTCTATAACCTCGATTCTTTTCACAGATGACCATCAAACCTAGCCAACTGGAATAGTTAGCAAAAAACTAGCATTACCCATTCTTAAGTTGGTTTTCTTTCTTTCCAGGTGAAGGAAATGAAATCAGTATGAGGATTTAA... | pathogenic | 93,076 |
A genetic alteration at chromosome 5, position 60902458, in gene ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cockayne_syndrome_type_1', 'UV-sensitive_syndrome_2'] | CCTAATCAGTTCAACTGATGCTATCATGTCCTCACAAGGACCTCAACAATATTGTAACCCAGGGGGCTTATCAATGCCATTTTAATAAGAGAGAGCATTACATTTTTATAAGCCTATTTTTTATTTAATTTTTTTAAAAAAATATACACACAAGGTTTACTGGTTTCTATAACCTCGATTCTTTTCACAGATGACCATCAAACCTAGCCAACTGGAATAGTTAGCAAAAAACTAGCATTACCCATTCTTAAGTTGGTTTTCTTTCTTTCCAGGTGAAGGAAATGAAATCAGTATGAGGATTTAAGTCTCTTCTGAAACAG... | CCTAATCAGTTCAACTGATGCTATCATGTCCTCACAAGGACCTCAACAATATTGTAACCCAGGGGGCTTATCAATGCCATTTTAATAAGAGAGAGCATTACATTTTTATAAGCCTATTTTTTATTTAATTTTTTTAAAAAAATATACACACAAGGTTTACTGGTTTCTATAACCTCGATTCTTTTCACAGATGACCATCAAACCTAGCCAACTGGAATAGTTAGCAAAAAACTAGCATTACCCATTCTTAAGTTGGTTTTCTTTCTTTCCAGGTGAAGGAAATGAAATCAGTATGAGGATTTAAGTCTCTTCTGAAACAG... | pathogenic | 93,078 |
The genetic variant at chromosome 5, position 60904804, affecting gene ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cockayne_syndrome_type_1', 'UV-sensitive_syndrome_2'] | TCTTTCTTTTTAAATACAGTTGTTAGCTTATGTCAGTAAATCCATATAACTCAAGCTCAATTACTGTAATAAAACATATAAGATAAACATTTTAAAGGATAAAAATGTTTTCCAATTTCTCATAAAGTTATAAGAGAAACCTACTTTAACTCATGCTTGTAGAAAAGCATTTATATAAAATGTTTTTTTCTAGAAAGCACAGGTGATAAGTTCAAAGGGTGATTTCAATATTTTAATTCACTTTTAGCTAACTGAACTATTCACATCAGACATTTCCACCTGCCCAGCTTATATTAATAAAAATTCATAATAATGTCAAA... | TCTTTCTTTTTAAATACAGTTGTTAGCTTATGTCAGTAAATCCATATAACTCAAGCTCAATTACTGTAATAAAACATATAAGATAAACATTTTAAAGGATAAAAATGTTTTCCAATTTCTCATAAAGTTATAAGAGAAACCTACTTTAACTCATGCTTGTAGAAAAGCATTTATATAAAATGTTTTTTTCTAGAAAGCACAGGTGATAAGTTCAAAGGGTGATTTCAATATTTTAATTCACTTTTAGCTAACTGAACTATTCACATCAGACATTTCCACCTGCCCAGCTTATATTAATAAAAATTCATAATAATGTCAAA... | pathogenic | 93,093 |
Clinical significance of chromosome 5, position 60904845, gene ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cockayne_syndrome_type_1'] | CCATATAACTCAAGCTCAATTACTGTAATAAAACATATAAGATAAACATTTTAAAGGATAAAAATGTTTTCCAATTTCTCATAAAGTTATAAGAGAAACCTACTTTAACTCATGCTTGTAGAAAAGCATTTATATAAAATGTTTTTTTCTAGAAAGCACAGGTGATAAGTTCAAAGGGTGATTTCAATATTTTAATTCACTTTTAGCTAACTGAACTATTCACATCAGACATTTCCACCTGCCCAGCTTATATTAATAAAAATTCATAATAATGTCAAAAAATGCTATCTATCTCATCAACTTTTCTTAACATATTTGTT... | CCATATAACTCAAGCTCAATTACTGTAATAAAACATATAAGATAAACATTTTAAAGGATAAAAATGTTTTCCAATTTCTCATAAAGTTATAAGAGAAACCTACTTTAACTCATGCTTGTAGAAAAGCATTTATATAAAATGTTTTTTTCTAGAAAGCACAGGTGATAAGTTCAAAGGGTGATTTCAATATTTTAATTCACTTTTAGCTAACTGAACTATTCACATCAGACATTTCCACCTGCCCAGCTTATATTAATAAAAATTCATAATAATGTCAAAAAATGCTATCTATCTCATCAACTTTTCTTAACATATTTGTT... | pathogenic | 93,095 |
Does the variant on chromosome 5 at location 60918265 affecting gene ERCC8 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cockayne_syndrome_type_1'] | TCTGGCTGTCTTGGCAGCCCACATTCCAATTTCTGTCTCTCTAGCTTTATGAAATTGACTAAAGTCCCACTCATTTATCTGCCTCTTAGAAGCTATCCAATGCCTGTCTTCTCAGTCTCTTGCCTTACTTTAATGACAAATGTCCAAAGAGAAAAAGAGTGTGTGGAAAGTTGAATGCATTTCTGTAAGTGTTCCCCTCTCTAGGATCTGATTCTCAATTCCTAGATTTCTTGGCAGCTTTATAAAACCCTCAACTAGATGCCTGTTTATGCTTTATCTAGCTTTTCTCAATGGAGGTGCTGGTTTGGCTACAAGATATT... | TCTGGCTGTCTTGGCAGCCCACATTCCAATTTCTGTCTCTCTAGCTTTATGAAATTGACTAAAGTCCCACTCATTTATCTGCCTCTTAGAAGCTATCCAATGCCTGTCTTCTCAGTCTCTTGCCTTACTTTAATGACAAATGTCCAAAGAGAAAAAGAGTGTGTGGAAAGTTGAATGCATTTCTGTAAGTGTTCCCCTCTCTAGGATCTGATTCTCAATTCCTAGATTTCTTGGCAGCTTTATAAAACCCTCAACTAGATGCCTGTTTATGCTTTATCTAGCTTTTCTCAATGGAGGTGCTGGTTTGGCTACAAGATATT... | pathogenic | 93,097 |
Determine whether the variant at chromosome 5, position 60918285, in gene ERCC8 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cockayne_syndrome_type_1', 'UV-sensitive_syndrome_2'] | ACATTCCAATTTCTGTCTCTCTAGCTTTATGAAATTGACTAAAGTCCCACTCATTTATCTGCCTCTTAGAAGCTATCCAATGCCTGTCTTCTCAGTCTCTTGCCTTACTTTAATGACAAATGTCCAAAGAGAAAAAGAGTGTGTGGAAAGTTGAATGCATTTCTGTAAGTGTTCCCCTCTCTAGGATCTGATTCTCAATTCCTAGATTTCTTGGCAGCTTTATAAAACCCTCAACTAGATGCCTGTTTATGCTTTATCTAGCTTTTCTCAATGGAGGTGCTGGTTTGGCTACAAGATATTCCATTATAGTCAGAAGTGAA... | ACATTCCAATTTCTGTCTCTCTAGCTTTATGAAATTGACTAAAGTCCCACTCATTTATCTGCCTCTTAGAAGCTATCCAATGCCTGTCTTCTCAGTCTCTTGCCTTACTTTAATGACAAATGTCCAAAGAGAAAAAGAGTGTGTGGAAAGTTGAATGCATTTCTGTAAGTGTTCCCCTCTCTAGGATCTGATTCTCAATTCCTAGATTTCTTGGCAGCTTTATAAAACCCTCAACTAGATGCCTGTTTATGCTTTATCTAGCTTTTCTCAATGGAGGTGCTGGTTTGGCTACAAGATATTCCATTATAGTCAGAAGTGAA... | pathogenic | 93,099 |
The mutation in gene ERCC8 at chromosome 5, position 60918343—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cockayne_syndrome_type_1'] | CTGCCTCTTAGAAGCTATCCAATGCCTGTCTTCTCAGTCTCTTGCCTTACTTTAATGACAAATGTCCAAAGAGAAAAAGAGTGTGTGGAAAGTTGAATGCATTTCTGTAAGTGTTCCCCTCTCTAGGATCTGATTCTCAATTCCTAGATTTCTTGGCAGCTTTATAAAACCCTCAACTAGATGCCTGTTTATGCTTTATCTAGCTTTTCTCAATGGAGGTGCTGGTTTGGCTACAAGATATTCCATTATAGTCAGAAGTGAAAGGTCATGACATTCATTTAATTGTTAAAATATACTCTCATTTTCAATGACATGTATTT... | CTGCCTCTTAGAAGCTATCCAATGCCTGTCTTCTCAGTCTCTTGCCTTACTTTAATGACAAATGTCCAAAGAGAAAAAGAGTGTGTGGAAAGTTGAATGCATTTCTGTAAGTGTTCCCCTCTCTAGGATCTGATTCTCAATTCCTAGATTTCTTGGCAGCTTTATAAAACCCTCAACTAGATGCCTGTTTATGCTTTATCTAGCTTTTCTCAATGGAGGTGCTGGTTTGGCTACAAGATATTCCATTATAGTCAGAAGTGAAAGGTCATGACATTCATTTAATTGTTAAAATATACTCTCATTTTCAATGACATGTATTT... | pathogenic | 93,102 |
Does the variant impacting ERCC8 on chromosome 5, position 60918349, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cockayne_syndrome_type_1'] | CTTAGAAGCTATCCAATGCCTGTCTTCTCAGTCTCTTGCCTTACTTTAATGACAAATGTCCAAAGAGAAAAAGAGTGTGTGGAAAGTTGAATGCATTTCTGTAAGTGTTCCCCTCTCTAGGATCTGATTCTCAATTCCTAGATTTCTTGGCAGCTTTATAAAACCCTCAACTAGATGCCTGTTTATGCTTTATCTAGCTTTTCTCAATGGAGGTGCTGGTTTGGCTACAAGATATTCCATTATAGTCAGAAGTGAAAGGTCATGACATTCATTTAATTGTTAAAATATACTCTCATTTTCAATGACATGTATTTTAAATA... | CTTAGAAGCTATCCAATGCCTGTCTTCTCAGTCTCTTGCCTTACTTTAATGACAAATGTCCAAAGAGAAAAAGAGTGTGTGGAAAGTTGAATGCATTTCTGTAAGTGTTCCCCTCTCTAGGATCTGATTCTCAATTCCTAGATTTCTTGGCAGCTTTATAAAACCCTCAACTAGATGCCTGTTTATGCTTTATCTAGCTTTTCTCAATGGAGGTGCTGGTTTGGCTACAAGATATTCCATTATAGTCAGAAGTGAAAGGTCATGACATTCATTTAATTGTTAAAATATACTCTCATTTTCAATGACATGTATTTTAAATA... | pathogenic | 93,103 |
Does the chromosome 5 mutation at position 60918367 within gene ERCC8 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cockayne_syndrome_type_1'] | CCTGTCTTCTCAGTCTCTTGCCTTACTTTAATGACAAATGTCCAAAGAGAAAAAGAGTGTGTGGAAAGTTGAATGCATTTCTGTAAGTGTTCCCCTCTCTAGGATCTGATTCTCAATTCCTAGATTTCTTGGCAGCTTTATAAAACCCTCAACTAGATGCCTGTTTATGCTTTATCTAGCTTTTCTCAATGGAGGTGCTGGTTTGGCTACAAGATATTCCATTATAGTCAGAAGTGAAAGGTCATGACATTCATTTAATTGTTAAAATATACTCTCATTTTCAATGACATGTATTTTAAATAAATATACTTTATTATAAA... | CCTGTCTTCTCAGTCTCTTGCCTTACTTTAATGACAAATGTCCAAAGAGAAAAAGAGTGTGTGGAAAGTTGAATGCATTTCTGTAAGTGTTCCCCTCTCTAGGATCTGATTCTCAATTCCTAGATTTCTTGGCAGCTTTATAAAACCCTCAACTAGATGCCTGTTTATGCTTTATCTAGCTTTTCTCAATGGAGGTGCTGGTTTGGCTACAAGATATTCCATTATAGTCAGAAGTGAAAGGTCATGACATTCATTTAATTGTTAAAATATACTCTCATTTTCAATGACATGTATTTTAAATAAATATACTTTATTATAAA... | pathogenic | 93,105 |
Is the chromosome 5, position 60922101 variant in ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cockayne_syndrome_type_1', 'UV-sensitive_syndrome_2'] | TTTTCCTAGGAGAGTTAGCCATTATTCAAAGCTGAGGAGTTGAGAGTCTGCGTTGGTGACATATAGCAAAACCCAAACTAATGTTCCTGTGGTGTGACCCTGACTGTGTTCTCTATCCTGACTTCTTTTGTTTTCTGCTCATTTTCTAAGTCTGATTCTCCCATCTTCCTGACAGTTATGTGAGATACTAAATATTCTTCCAATAAATTTCGCTTAAGATAAGCAGATTGATTTCCTTTTGCTCCTAAGAATATTGACTTCTACAGAGATTTTTCCAGTGATACTACTTTTAAATGAAACAAATTTTTAATGTAGTGATA... | TTTTCCTAGGAGAGTTAGCCATTATTCAAAGCTGAGGAGTTGAGAGTCTGCGTTGGTGACATATAGCAAAACCCAAACTAATGTTCCTGTGGTGTGACCCTGACTGTGTTCTCTATCCTGACTTCTTTTGTTTTCTGCTCATTTTCTAAGTCTGATTCTCCCATCTTCCTGACAGTTATGTGAGATACTAAATATTCTTCCAATAAATTTCGCTTAAGATAAGCAGATTGATTTCCTTTTGCTCCTAAGAATATTGACTTCTACAGAGATTTTTCCAGTGATACTACTTTTAAATGAAACAAATTTTTAATGTAGTGATA... | pathogenic | 93,109 |
The chromosome 5, position 60928874 genetic variant in gene ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cockayne_syndrome_type_1', 'UV-sensitive_syndrome_2'] | GTTAAAAGTTGAAATTTTAATCTTAATTGATATGGTATTTACAATAATGTCAGATGTTTTGACTCTGTTAAAATGGCTTCCAAAAGCTTTTCTCTGATTCCATTAACTTTCTATTTGAAGTATCTGATGGCACTGACATTAACTATGAGATACTTTTTGCTGATAGAGTATGAAGAGATATGGTTTCATGTTTTTATATAGACAAGAAAACTTAGTATTAAAGATGAATGAAATTAACTTAGAAGAATTTAAAAGGTATAAAAGAAAATTCAAGCTTCACAGAGTGATACGCAAATGCACCCTCTGCAGTTGCACCTGTT... | GTTAAAAGTTGAAATTTTAATCTTAATTGATATGGTATTTACAATAATGTCAGATGTTTTGACTCTGTTAAAATGGCTTCCAAAAGCTTTTCTCTGATTCCATTAACTTTCTATTTGAAGTATCTGATGGCACTGACATTAACTATGAGATACTTTTTGCTGATAGAGTATGAAGAGATATGGTTTCATGTTTTTATATAGACAAGAAAACTTAGTATTAAAGATGAATGAAATTAACTTAGAAGAATTTAAAAGGTATAAAAGAAAATTCAAGCTTCACAGAGTGATACGCAAATGCACCCTCTGCAGTTGCACCTGTT... | pathogenic | 93,115 |
Clinical significance of chromosome 5, position 60928957, gene ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | AAGCTTTTCTCTGATTCCATTAACTTTCTATTTGAAGTATCTGATGGCACTGACATTAACTATGAGATACTTTTTGCTGATAGAGTATGAAGAGATATGGTTTCATGTTTTTATATAGACAAGAAAACTTAGTATTAAAGATGAATGAAATTAACTTAGAAGAATTTAAAAGGTATAAAAGAAAATTCAAGCTTCACAGAGTGATACGCAAATGCACCCTCTGCAGTTGCACCTGTTAAACTGTAATTTTCAGATACTTTTTGTAAAATAACACCTTACTTTGAAAATCTCTGCCAGATTTGTGTATTCTGTCTGGTTTC... | AAGCTTTTCTCTGATTCCATTAACTTTCTATTTGAAGTATCTGATGGCACTGACATTAACTATGAGATACTTTTTGCTGATAGAGTATGAAGAGATATGGTTTCATGTTTTTATATAGACAAGAAAACTTAGTATTAAAGATGAATGAAATTAACTTAGAAGAATTTAAAAGGTATAAAAGAAAATTCAAGCTTCACAGAGTGATACGCAAATGCACCCTCTGCAGTTGCACCTGTTAAACTGTAATTTTCAGATACTTTTTGTAAAATAACACCTTACTTTGAAAATCTCTGCCAGATTTGTGTATTCTGTCTGGTTTC... | pathogenic | 93,117 |
Assess the variant on chromosome 5, position 60945372, impacting NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_10'] | AGCAATCCTCACTTGGCACAGTCTGATATGAATTTCAGTTACCACAGTTTATTAACCGTGAGAAATAGCATAAAAGTTTGCTACTAGCTTTTCAGTTCACAAATCATTACATAAATAACATATGAATCAAAATTGACCAATTTGCAATTTTACTTCTTTCAAAGTCTATGGGTGATTGGTCACTGTGCATCTGTTATTCAGTTCACACACAGGCTGCAAAGCATGGAGGTTTGTTATTAATATTTCTGTGCCCTTGAGATAAACCCACATGGAATTTTACAGATTAAAAGAGGAAATTGGCCAAAAGAATGAAAGTGCAC... | AGCAATCCTCACTTGGCACAGTCTGATATGAATTTCAGTTACCACAGTTTATTAACCGTGAGAAATAGCATAAAAGTTTGCTACTAGCTTTTCAGTTCACAAATCATTACATAAATAACATATGAATCAAAATTGACCAATTTGCAATTTTACTTCTTTCAAAGTCTATGGGTGATTGGTCACTGTGCATCTGTTATTCAGTTCACACACAGGCTGCAAAGCATGGAGGTTTGTTATTAATATTTCTGTGCCCTTGAGATAAACCCACATGGAATTTTACAGATTAAAAGAGGAAATTGGCCAAAAGAATGAAAGTGCAC... | pathogenic | 93,128 |
Evaluate this variant at chromosome 5, position 61073125, gene NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Leigh_syndrome'] | ATTTATATATGTGAATGTAAATAGCATTTTAGTAAACATACATGTACATATATTGAACCTCTACTGTGAGAGAAATGCAGTTGTCATTGTTATATGCTCCTTGTACCCTAATCCTTGTTCCTACCACTTTTAGTATCAGTCCCTTGTCCTACTGTAAATTTATTGGGTAAGATAAGCAAAAGGTAACTCCTCTTTGTAGAACTTGGGGAACCTCTGCGTTAGGATTAAATCAGCCTGATTAAATGACTTCATAATGAAATGCAGAACTTCCTGACCACATACTTAAGATTTATTAGCCATTAATGGGTTGTCTATGAACT... | ATTTATATATGTGAATGTAAATAGCATTTTAGTAAACATACATGTACATATATTGAACCTCTACTGTGAGAGAAATGCAGTTGTCATTGTTATATGCTCCTTGTACCCTAATCCTTGTTCCTACCACTTTTAGTATCAGTCCCTTGTCCTACTGTAAATTTATTGGGTAAGATAAGCAAAAGGTAACTCCTCTTTGTAGAACTTGGGGAACCTCTGCGTTAGGATTAAATCAGCCTGATTAAATGACTTCATAATGAAATGCAGAACTTCCTGACCACATACTTAAGATTTATTAGCCATTAATGGGTTGTCTATGAACT... | pathogenic | 93,132 |
Located at chromosome 5 position 61073180, the variant affecting gene NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_10'] | AACCTCTACTGTGAGAGAAATGCAGTTGTCATTGTTATATGCTCCTTGTACCCTAATCCTTGTTCCTACCACTTTTAGTATCAGTCCCTTGTCCTACTGTAAATTTATTGGGTAAGATAAGCAAAAGGTAACTCCTCTTTGTAGAACTTGGGGAACCTCTGCGTTAGGATTAAATCAGCCTGATTAAATGACTTCATAATGAAATGCAGAACTTCCTGACCACATACTTAAGATTTATTAGCCATTAATGGGTTGTCTATGAACTCCCAGCCTTTCACTTAATATTACTAAGATGGAAGAAATAAAACCAGCCATTCAGC... | AACCTCTACTGTGAGAGAAATGCAGTTGTCATTGTTATATGCTCCTTGTACCCTAATCCTTGTTCCTACCACTTTTAGTATCAGTCCCTTGTCCTACTGTAAATTTATTGGGTAAGATAAGCAAAAGGTAACTCCTCTTTGTAGAACTTGGGGAACCTCTGCGTTAGGATTAAATCAGCCTGATTAAATGACTTCATAATGAAATGCAGAACTTCCTGACCACATACTTAAGATTTATTAGCCATTAATGGGTTGTCTATGAACTCCCAGCCTTTCACTTAATATTACTAAGATGGAAGAAATAAAACCAGCCATTCAGC... | pathogenic | 93,134 |
A mutation at chromosome position 61332326 on chromosome 5 in gene ZSWIM6 (zinc finger SWIM-type containing 6): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TCCGCACAGGCTTTTTCCTAGACATGGAGGAAGTGCCCAGAAAAATACTGGACGGATATACAAAAACATAATGCCACAAAAATTTTCCTAACAAGTAAGGCAGCTGCGGAAAGTCGGCCAGCGTCCCGACCCCAGGGACCTGCAGCCTGGGACTTGTGAAGGCCCACTGTGTAGCTCGAGGTTTCCAGGGCCTCGGCCCCGAATGGGCGATTTTCTTTAAAACGCCGAAGCGCGCTATCCCTTTAAATCCAGGCTGCAAGGCAGGCGGGTGGGGAGCAGCCAATAACCTTAAAAGATGCGAAAGTGTCAAAGGAGATACA... | TCCGCACAGGCTTTTTCCTAGACATGGAGGAAGTGCCCAGAAAAATACTGGACGGATATACAAAAACATAATGCCACAAAAATTTTCCTAACAAGTAAGGCAGCTGCGGAAAGTCGGCCAGCGTCCCGACCCCAGGGACCTGCAGCCTGGGACTTGTGAAGGCCCACTGTGTAGCTCGAGGTTTCCAGGGCCTCGGCCCCGAATGGGCGATTTTCTTTAAAACGCCGAAGCGCGCTATCCCTTTAAATCCAGGCTGCAAGGCAGGCGGGTGGGGAGCAGCCAATAACCTTAAAAGATGCGAAAGTGTCAAAGGAGATACA... | benign | 93,148 |
Evaluate the clinical significance of the mutation at chromosome 5, position 61332326 in gene ZSWIM6 (zinc finger SWIM-type containing 6): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TCCGCACAGGCTTTTTCCTAGACATGGAGGAAGTGCCCAGAAAAATACTGGACGGATATACAAAAACATAATGCCACAAAAATTTTCCTAACAAGTAAGGCAGCTGCGGAAAGTCGGCCAGCGTCCCGACCCCAGGGACCTGCAGCCTGGGACTTGTGAAGGCCCACTGTGTAGCTCGAGGTTTCCAGGGCCTCGGCCCCGAATGGGCGATTTTCTTTAAAACGCCGAAGCGCGCTATCCCTTTAAATCCAGGCTGCAAGGCAGGCGGGTGGGGAGCAGCCAATAACCTTAAAAGATGCGAAAGTGTCAAAGGAGATACA... | TCCGCACAGGCTTTTTCCTAGACATGGAGGAAGTGCCCAGAAAAATACTGGACGGATATACAAAAACATAATGCCACAAAAATTTTCCTAACAAGTAAGGCAGCTGCGGAAAGTCGGCCAGCGTCCCGACCCCAGGGACCTGCAGCCTGGGACTTGTGAAGGCCCACTGTGTAGCTCGAGGTTTCCAGGGCCTCGGCCCCGAATGGGCGATTTTCTTTAAAACGCCGAAGCGCGCTATCCCTTTAAATCCAGGCTGCAAGGCAGGCGGGTGGGGAGCAGCCAATAACCTTAAAAGATGCGAAAGTGTCAAAGGAGATACA... | benign | 93,149 |
Does the chromosome 5 mutation at position 61332326 within gene ZSWIM6 (zinc finger SWIM-type containing 6) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TCCGCACAGGCTTTTTCCTAGACATGGAGGAAGTGCCCAGAAAAATACTGGACGGATATACAAAAACATAATGCCACAAAAATTTTCCTAACAAGTAAGGCAGCTGCGGAAAGTCGGCCAGCGTCCCGACCCCAGGGACCTGCAGCCTGGGACTTGTGAAGGCCCACTGTGTAGCTCGAGGTTTCCAGGGCCTCGGCCCCGAATGGGCGATTTTCTTTAAAACGCCGAAGCGCGCTATCCCTTTAAATCCAGGCTGCAAGGCAGGCGGGTGGGGAGCAGCCAATAACCTTAAAAGATGCGAAAGTGTCAAAGGAGATACA... | TCCGCACAGGCTTTTTCCTAGACATGGAGGAAGTGCCCAGAAAAATACTGGACGGATATACAAAAACATAATGCCACAAAAATTTTCCTAACAAGTAAGGCAGCTGCGGAAAGTCGGCCAGCGTCCCGACCCCAGGGACCTGCAGCCTGGGACTTGTGAAGGCCCACTGTGTAGCTCGAGGTTTCCAGGGCCTCGGCCCCGAATGGGCGATTTTCTTTAAAACGCCGAAGCGCGCTATCCCTTTAAATCCAGGCTGCAAGGCAGGCGGGTGGGGAGCAGCCAATAACCTTAAAAGATGCGAAAGTGTCAAAGGAGATACA... | benign | 93,150 |
Gene mutation in ZSWIM6 (zinc finger SWIM-type containing 6) at chromosome 5, position 61332326—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TCCGCACAGGCTTTTTCCTAGACATGGAGGAAGTGCCCAGAAAAATACTGGACGGATATACAAAAACATAATGCCACAAAAATTTTCCTAACAAGTAAGGCAGCTGCGGAAAGTCGGCCAGCGTCCCGACCCCAGGGACCTGCAGCCTGGGACTTGTGAAGGCCCACTGTGTAGCTCGAGGTTTCCAGGGCCTCGGCCCCGAATGGGCGATTTTCTTTAAAACGCCGAAGCGCGCTATCCCTTTAAATCCAGGCTGCAAGGCAGGCGGGTGGGGAGCAGCCAATAACCTTAAAAGATGCGAAAGTGTCAAAGGAGATACA... | TCCGCACAGGCTTTTTCCTAGACATGGAGGAAGTGCCCAGAAAAATACTGGACGGATATACAAAAACATAATGCCACAAAAATTTTCCTAACAAGTAAGGCAGCTGCGGAAAGTCGGCCAGCGTCCCGACCCCAGGGACCTGCAGCCTGGGACTTGTGAAGGCCCACTGTGTAGCTCGAGGTTTCCAGGGCCTCGGCCCCGAATGGGCGATTTTCTTTAAAACGCCGAAGCGCGCTATCCCTTTAAATCCAGGCTGCAAGGCAGGCGGGTGGGGAGCAGCCAATAACCTTAAAAGATGCGAAAGTGTCAAAGGAGATACA... | benign | 93,151 |
Gene mutation in ZSWIM6 (zinc finger SWIM-type containing 6) at chromosome 5, position 61332326—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TCCGCACAGGCTTTTTCCTAGACATGGAGGAAGTGCCCAGAAAAATACTGGACGGATATACAAAAACATAATGCCACAAAAATTTTCCTAACAAGTAAGGCAGCTGCGGAAAGTCGGCCAGCGTCCCGACCCCAGGGACCTGCAGCCTGGGACTTGTGAAGGCCCACTGTGTAGCTCGAGGTTTCCAGGGCCTCGGCCCCGAATGGGCGATTTTCTTTAAAACGCCGAAGCGCGCTATCCCTTTAAATCCAGGCTGCAAGGCAGGCGGGTGGGGAGCAGCCAATAACCTTAAAAGATGCGAAAGTGTCAAAGGAGATACA... | TCCGCACAGGCTTTTTCCTAGACATGGAGGAAGTGCCCAGAAAAATACTGGACGGATATACAAAAACATAATGCCACAAAAATTTTCCTAACAAGTAAGGCAGCTGCGGAAAGTCGGCCAGCGTCCCGACCCCAGGGACCTGCAGCCTGGGACTTGTGAAGGCCCACTGTGTAGCTCGAGGTTTCCAGGGCCTCGGCCCCGAATGGGCGATTTTCTTTAAAACGCCGAAGCGCGCTATCCCTTTAAATCCAGGCTGCAAGGCAGGCGGGTGGGGAGCAGCCAATAACCTTAAAAGATGCGAAAGTGTCAAAGGAGATACA... | benign | 93,152 |
Benign or pathogenic: chromosome 5, position 61332333, gene ZSWIM6 (zinc finger SWIM-type containing 6) variant? Disease(s) if pathogenic? | benign | AGGCTTTTTCCTAGACATGGAGGAAGTGCCCAGAAAAATACTGGACGGATATACAAAAACATAATGCCACAAAAATTTTCCTAACAAGTAAGGCAGCTGCGGAAAGTCGGCCAGCGTCCCGACCCCAGGGACCTGCAGCCTGGGACTTGTGAAGGCCCACTGTGTAGCTCGAGGTTTCCAGGGCCTCGGCCCCGAATGGGCGATTTTCTTTAAAACGCCGAAGCGCGCTATCCCTTTAAATCCAGGCTGCAAGGCAGGCGGGTGGGGAGCAGCCAATAACCTTAAAAGATGCGAAAGTGTCAAAGGAGATACAGTTTATC... | AGGCTTTTTCCTAGACATGGAGGAAGTGCCCAGAAAAATACTGGACGGATATACAAAAACATAATGCCACAAAAATTTTCCTAACAAGTAAGGCAGCTGCGGAAAGTCGGCCAGCGTCCCGACCCCAGGGACCTGCAGCCTGGGACTTGTGAAGGCCCACTGTGTAGCTCGAGGTTTCCAGGGCCTCGGCCCCGAATGGGCGATTTTCTTTAAAACGCCGAAGCGCGCTATCCCTTTAAATCCAGGCTGCAAGGCAGGCGGGTGGGGAGCAGCCAATAACCTTAAAAGATGCGAAAGTGTCAAAGGAGATACAGTTTATC... | benign | 93,153 |
Does the variant on chromosome 5 at location 61332354 affecting gene ZSWIM6 (zinc finger SWIM-type containing 6) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GGAAGTGCCCAGAAAAATACTGGACGGATATACAAAAACATAATGCCACAAAAATTTTCCTAACAAGTAAGGCAGCTGCGGAAAGTCGGCCAGCGTCCCGACCCCAGGGACCTGCAGCCTGGGACTTGTGAAGGCCCACTGTGTAGCTCGAGGTTTCCAGGGCCTCGGCCCCGAATGGGCGATTTTCTTTAAAACGCCGAAGCGCGCTATCCCTTTAAATCCAGGCTGCAAGGCAGGCGGGTGGGGAGCAGCCAATAACCTTAAAAGATGCGAAAGTGTCAAAGGAGATACAGTTTATCTCCAACAATGGGAGCGGATCA... | GGAAGTGCCCAGAAAAATACTGGACGGATATACAAAAACATAATGCCACAAAAATTTTCCTAACAAGTAAGGCAGCTGCGGAAAGTCGGCCAGCGTCCCGACCCCAGGGACCTGCAGCCTGGGACTTGTGAAGGCCCACTGTGTAGCTCGAGGTTTCCAGGGCCTCGGCCCCGAATGGGCGATTTTCTTTAAAACGCCGAAGCGCGCTATCCCTTTAAATCCAGGCTGCAAGGCAGGCGGGTGGGGAGCAGCCAATAACCTTAAAAGATGCGAAAGTGTCAAAGGAGATACAGTTTATCTCCAACAATGGGAGCGGATCA... | benign | 93,154 |
A genetic variant on chromosome 5, position 61332713, affects the gene ZSWIM6 (zinc finger SWIM-type containing 6). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AGGAAGCCTGTCTCCGACGCGGTAATTAAGTCTGCGGCTTGGAAGCAGATTTGACCGAGCTCTGTGGAGCGCGAACAATGTCCGCAGGGCTCCAGGTTCAGAGAGGGACTCGCTTCTCCGCCTTCGCCCGCGTCCAGGCACCAGCGAGCTGCACTCTGCACTCGCTCTCCCTGGTCCACCCCTACACTGCCCGGACCCGAGGGGACTGGCCCTGCGGGCGCCGCCAAGGCGACTGAGAGCGCGGCGCGCGTCCCGAGCGCCTGGACTCCGCGCAGCCGGGCGCCGCGCACCCGGGTGCCGGGGTGGGAGCCGGGCCGCAG... | AGGAAGCCTGTCTCCGACGCGGTAATTAAGTCTGCGGCTTGGAAGCAGATTTGACCGAGCTCTGTGGAGCGCGAACAATGTCCGCAGGGCTCCAGGTTCAGAGAGGGACTCGCTTCTCCGCCTTCGCCCGCGTCCAGGCACCAGCGAGCTGCACTCTGCACTCGCTCTCCCTGGTCCACCCCTACACTGCCCGGACCCGAGGGGACTGGCCCTGCGGGCGCCGCCAAGGCGACTGAGAGCGCGGCGCGCGTCCCGAGCGCCTGGACTCCGCGCAGCCGGGCGCCGCGCACCCGGGTGCCGGGGTGGGAGCCGGGCCGCAG... | benign | 93,161 |
Chromosome 5, position 61332747, gene ZSWIM6 (zinc finger SWIM-type containing 6): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CGGCTTGGAAGCAGATTTGACCGAGCTCTGTGGAGCGCGAACAATGTCCGCAGGGCTCCAGGTTCAGAGAGGGACTCGCTTCTCCGCCTTCGCCCGCGTCCAGGCACCAGCGAGCTGCACTCTGCACTCGCTCTCCCTGGTCCACCCCTACACTGCCCGGACCCGAGGGGACTGGCCCTGCGGGCGCCGCCAAGGCGACTGAGAGCGCGGCGCGCGTCCCGAGCGCCTGGACTCCGCGCAGCCGGGCGCCGCGCACCCGGGTGCCGGGGTGGGAGCCGGGCCGCAGACCCAAGTGCGCCCGAAGCCGCCGTCCGCCGCCT... | CGGCTTGGAAGCAGATTTGACCGAGCTCTGTGGAGCGCGAACAATGTCCGCAGGGCTCCAGGTTCAGAGAGGGACTCGCTTCTCCGCCTTCGCCCGCGTCCAGGCACCAGCGAGCTGCACTCTGCACTCGCTCTCCCTGGTCCACCCCTACACTGCCCGGACCCGAGGGGACTGGCCCTGCGGGCGCCGCCAAGGCGACTGAGAGCGCGGCGCGCGTCCCGAGCGCCTGGACTCCGCGCAGCCGGGCGCCGCGCACCCGGGTGCCGGGGTGGGAGCCGGGCCGCAGACCCAAGTGCGCCCGAAGCCGCCGTCCGCCGCCT... | benign | 93,162 |
Evaluate this variant at chromosome 5, position 61332767, gene ZSWIM6 (zinc finger SWIM-type containing 6): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CCGAGCTCTGTGGAGCGCGAACAATGTCCGCAGGGCTCCAGGTTCAGAGAGGGACTCGCTTCTCCGCCTTCGCCCGCGTCCAGGCACCAGCGAGCTGCACTCTGCACTCGCTCTCCCTGGTCCACCCCTACACTGCCCGGACCCGAGGGGACTGGCCCTGCGGGCGCCGCCAAGGCGACTGAGAGCGCGGCGCGCGTCCCGAGCGCCTGGACTCCGCGCAGCCGGGCGCCGCGCACCCGGGTGCCGGGGTGGGAGCCGGGCCGCAGACCCAAGTGCGCCCGAAGCCGCCGTCCGCCGCCTGGCACGCCGTCTGCCGCCTG... | CCGAGCTCTGTGGAGCGCGAACAATGTCCGCAGGGCTCCAGGTTCAGAGAGGGACTCGCTTCTCCGCCTTCGCCCGCGTCCAGGCACCAGCGAGCTGCACTCTGCACTCGCTCTCCCTGGTCCACCCCTACACTGCCCGGACCCGAGGGGACTGGCCCTGCGGGCGCCGCCAAGGCGACTGAGAGCGCGGCGCGCGTCCCGAGCGCCTGGACTCCGCGCAGCCGGGCGCCGCGCACCCGGGTGCCGGGGTGGGAGCCGGGCCGCAGACCCAAGTGCGCCCGAAGCCGCCGTCCGCCGCCTGGCACGCCGTCTGCCGCCTG... | benign | 93,164 |
Does the chromosome 5 mutation at position 61332791 within gene ZSWIM6 (zinc finger SWIM-type containing 6) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TGTCCGCAGGGCTCCAGGTTCAGAGAGGGACTCGCTTCTCCGCCTTCGCCCGCGTCCAGGCACCAGCGAGCTGCACTCTGCACTCGCTCTCCCTGGTCCACCCCTACACTGCCCGGACCCGAGGGGACTGGCCCTGCGGGCGCCGCCAAGGCGACTGAGAGCGCGGCGCGCGTCCCGAGCGCCTGGACTCCGCGCAGCCGGGCGCCGCGCACCCGGGTGCCGGGGTGGGAGCCGGGCCGCAGACCCAAGTGCGCCCGAAGCCGCCGTCCGCCGCCTGGCACGCCGTCTGCCGCCTGCTGGGCGATGTGTGCGCGAGCCCG... | TGTCCGCAGGGCTCCAGGTTCAGAGAGGGACTCGCTTCTCCGCCTTCGCCCGCGTCCAGGCACCAGCGAGCTGCACTCTGCACTCGCTCTCCCTGGTCCACCCCTACACTGCCCGGACCCGAGGGGACTGGCCCTGCGGGCGCCGCCAAGGCGACTGAGAGCGCGGCGCGCGTCCCGAGCGCCTGGACTCCGCGCAGCCGGGCGCCGCGCACCCGGGTGCCGGGGTGGGAGCCGGGCCGCAGACCCAAGTGCGCCCGAAGCCGCCGTCCGCCGCCTGGCACGCCGTCTGCCGCCTGCTGGGCGATGTGTGCGCGAGCCCG... | benign | 93,168 |
The chromosome 5, position 62365368 genetic variant in gene KIF2A (kinesin family member 2A): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GGTAAATCTCATTTTGATTAAGAAAGGAAACATCAGTTTTAGAAACTTTGGGTACAGTATAACAAAATGAGGATGTTATCTATCAATACATCTTGGAAGTAAAAATCATTGTTCATAAAAACTTGTGTTACATGTAAATGTGAGTGACAATTATTATATTGATACTACATTACAAATATATTAGAAATATGCCGGATTAAATTGTATGAATCTGGTTCTATTTAAGTGTTATAACTCAGTGTCTCATCTGTATTTAAAAGATGAAAACTAGCTAAATCGATGTTTTTGCTGCTGTTGTTTTTAATGAAAATAATGTGGTT... | GGTAAATCTCATTTTGATTAAGAAAGGAAACATCAGTTTTAGAAACTTTGGGTACAGTATAACAAAATGAGGATGTTATCTATCAATACATCTTGGAAGTAAAAATCATTGTTCATAAAAACTTGTGTTACATGTAAATGTGAGTGACAATTATTATATTGATACTACATTACAAATATATTAGAAATATGCCGGATTAAATTGTATGAATCTGGTTCTATTTAAGTGTTATAACTCAGTGTCTCATCTGTATTTAAAAGATGAAAACTAGCTAAATCGATGTTTTTGCTGCTGTTGTTTTTAATGAAAATAATGTGGTT... | benign | 93,256 |
Located at chromosome 5 position 62385466, the variant affecting gene KIF2A (kinesin family member 2A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TATTTTTAGTAGAGACGGGGTTTCATTGTGTTAGTCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCATCTCGGCCTCCGAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCTGCACAGCCAGATTTTTGGATGAGATGTTCAACACATATATGTTGCTGACTGGTTATGAAGTTGGTTATTTGAAATCATATTTTGTAAAGTCAGCAGTGACTGTTGAACTAAAATTTTCATTTGTTTCTCATATTGTTCATATTCAACCCTTTATTTAAATTGTTTTGATCATTTTTCTAATCTGCAATAATTCA... | TATTTTTAGTAGAGACGGGGTTTCATTGTGTTAGTCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCATCTCGGCCTCCGAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCTGCACAGCCAGATTTTTGGATGAGATGTTCAACACATATATGTTGCTGACTGGTTATGAAGTTGGTTATTTGAAATCATATTTTGTAAAGTCAGCAGTGACTGTTGAACTAAAATTTTCATTTGTTTCTCATATTGTTCATATTCAACCCTTTATTTAAATTGTTTTGATCATTTTTCTAATCTGCAATAATTCA... | benign | 93,271 |
Does the variant impacting CWC27 (CWC27 spliceosome associated cyclophilin) on chromosome 5, position 64801303, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Metaphyseal_chondrodysplasia-retinitis_pigmentosa_syndrome'] | GCAATGCTATTTGAAGCACAGTGCCTAGCACAAAGAATATACTTAATACTTGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAATATTAGCTGGGCGTGGTGGCGCATACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAACCCCGGAAGCGGAGATTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGTGACAGAGTGAG... | GCAATGCTATTTGAAGCACAGTGCCTAGCACAAAGAATATACTTAATACTTGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAATATTAGCTGGGCGTGGTGGCGCATACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAACCCCGGAAGCGGAGATTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGTGACAGAGTGAG... | pathogenic | 93,286 |
Chromosome 5, position 64885498, gene CWC27 (CWC27 spliceosome associated cyclophilin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Metaphyseal_chondrodysplasia-retinitis_pigmentosa_syndrome', 'Retinal_dystrophy'] | TGTACAAAGTATAGAGATGAGAAAAATGTCAACAATTATAATATGGGAAGAAAAAGAGTAACCAGGAGAAGAATTGGAGATTCAAAATGCTAAAATGGTATATAAGCCTGACTGGGATAGAATTCTAAGAAGAAAGGAGAAGGAAGGAATAATTAACATCATTGAATGATAGAGGCCAAAAAGGAAGAGGAGAAATGAGAAAAGGCCATTGAATTTGGTTGATATAGAAGCAGTTTCAGTAGACTGTAAGAGGGATAGATTGCAAGAGATTAAGAAGTTAGAGGTTAATAAAGCAGACTGTATAGGTAAACTATTCTTTC... | TGTACAAAGTATAGAGATGAGAAAAATGTCAACAATTATAATATGGGAAGAAAAAGAGTAACCAGGAGAAGAATTGGAGATTCAAAATGCTAAAATGGTATATAAGCCTGACTGGGATAGAATTCTAAGAAGAAAGGAGAAGGAAGGAATAATTAACATCATTGAATGATAGAGGCCAAAAAGGAAGAGGAGAAATGAGAAAAGGCCATTGAATTTGGTTGATATAGAAGCAGTTTCAGTAGACTGTAAGAGGGATAGATTGCAAGAGATTAAGAAGTTAGAGGTTAATAAAGCAGACTGTATAGGTAAACTATTCTTTC... | pathogenic | 93,291 |
Regarding the variant found on chromosome 5 at position 64971723 in gene CWC27 (CWC27 spliceosome associated cyclophilin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Metaphyseal_chondrodysplasia-retinitis_pigmentosa_syndrome'] | GGACAAATATGATTTGTCCTCAAGGAGTTAATGTCTAGTGAGTTTAAAGAAGAGTAAACAGGAAATCGCCATAAAGTGTGATAAGTGCTAAAGGGTGCTTTGGAAGCTCAAAGGAGAGACATCTAAACCAGACTTCAAGAACGGAATCAGAAAAGGCTCACTGAAGTGCCAACCAAGCTGAGACCTAAAGGAGGAGCCGGAATTAAGCAAGGAGAATTAACAAGAACGGAGAGATGAAGTATTTGCAGTATCCCTGAAGGAAGAAAAGCATGTGCAAAGGCGGATGGTTGGTCAAGAGAGCAGGGTTTAAGAATACTAGT... | GGACAAATATGATTTGTCCTCAAGGAGTTAATGTCTAGTGAGTTTAAAGAAGAGTAAACAGGAAATCGCCATAAAGTGTGATAAGTGCTAAAGGGTGCTTTGGAAGCTCAAAGGAGAGACATCTAAACCAGACTTCAAGAACGGAATCAGAAAAGGCTCACTGAAGTGCCAACCAAGCTGAGACCTAAAGGAGGAGCCGGAATTAAGCAAGGAGAATTAACAAGAACGGAGAGATGAAGTATTTGCAGTATCCCTGAAGGAAGAAAAGCATGTGCAAAGGCGGATGGTTGGTCAAGAGAGCAGGGTTTAAGAATACTAGT... | pathogenic | 93,294 |
Gene CWC27 (CWC27 spliceosome associated cyclophilin) variant at chromosome position 64977135 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinal_dystrophy'] | GTAGCTATGATAATGTGTGTATTTTTAGCTGTTGAATATGTGGGCATTAAATTTTGCAGAAAAGTAGAAGATGCTTTTTACTATCATTTTTAAAGCAATAACCAACCACCTTTTTCTTGCAGTTATTTTGACACCATTTGTCTTTATTAAGCTTGAGTTCTAGATTGCCCAGACCTACTTAACTTTTTCATGAACTGTGATCTTATTGATACTCTCTAGATAAATTCTGGAGCTTAGGAATGTATTGTGACTCTCTAATATACCAGTTATTCACATGTTGAACTGTCACACATCTTTTTCCTTATGAAATGTGAGGATTT... | GTAGCTATGATAATGTGTGTATTTTTAGCTGTTGAATATGTGGGCATTAAATTTTGCAGAAAAGTAGAAGATGCTTTTTACTATCATTTTTAAAGCAATAACCAACCACCTTTTTCTTGCAGTTATTTTGACACCATTTGTCTTTATTAAGCTTGAGTTCTAGATTGCCCAGACCTACTTAACTTTTTCATGAACTGTGATCTTATTGATACTCTCTAGATAAATTCTGGAGCTTAGGAATGTATTGTGACTCTCTAATATACCAGTTATTCACATGTTGAACTGTCACACATCTTTTTCCTTATGAAATGTGAGGATTT... | pathogenic | 93,298 |
Mutation found at chromosome 5 position 66076965, gene ERBIN (erbb2 interacting protein): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TAGAATGTGAAAACTCTAGTGCTTTTGTAATGCTCCAAGAAGAAATCCAAATATTTGAAATAAGACATTATTATTGGTCATTTTAAGATACTTCATGTTTTTCTTAGATGCCTTTGAGTAATGGACAGATGGGCCAGCCTCTCAGGCCTCAGGCAAATTATAGTCAAATACATCACCCCCCTCAGGCATCTGTGGCAAGGCATCCCTCTAGAGAACAACTAATTGATTACTTGATGCTGAAAGTGGCCCACCAGCCTCCATATACACAGCCCCATTGTTCTCCTAGACAAGGCCATGAACTGGCAAAACAAGAGGTAAGA... | TAGAATGTGAAAACTCTAGTGCTTTTGTAATGCTCCAAGAAGAAATCCAAATATTTGAAATAAGACATTATTATTGGTCATTTTAAGATACTTCATGTTTTTCTTAGATGCCTTTGAGTAATGGACAGATGGGCCAGCCTCTCAGGCCTCAGGCAAATTATAGTCAAATACATCACCCCCCTCAGGCATCTGTGGCAAGGCATCCCTCTAGAGAACAACTAATTGATTACTTGATGCTGAAAGTGGCCCACCAGCCTCCATATACACAGCCCCATTGTTCTCCTAGACAAGGCCATGAACTGGCAAAACAAGAGGTAAGA... | benign | 93,329 |
A genetic variant on chromosome 5, position 68293747, affects the gene PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Agammaglobulinemia_7,_autosomal_recessive', 'Colorectal_cancer', 'Immunodeficiency_36', 'SHORT_syndrome'] | AAAGTGGCTTTTGGCAGAACAGTGCCTGAAATACTAAGATTAGAGAAACCCAATTGCTCCTCTTAAAACATACTGCTGTAGATGAGCCTTTTTATTACTGCAACAGAGTTTGTGGAGGACAGAGACCAAATTTGTCTTTCGTAATTAAATAAGAGGAAATTAAAGCCAACTCATGTTATTCCTGCTACTCATATGTTCATAGTTTCTTACTTTAGATGGATTTGACCAGGCATGAAACTTTAATATAACTAGAATCTAGAAGTACAGAATGTCATGACTCTGGATTTACTTTGAAATTTATTCACATGGCCAGCCCAATT... | AAAGTGGCTTTTGGCAGAACAGTGCCTGAAATACTAAGATTAGAGAAACCCAATTGCTCCTCTTAAAACATACTGCTGTAGATGAGCCTTTTTATTACTGCAACAGAGTTTGTGGAGGACAGAGACCAAATTTGTCTTTCGTAATTAAATAAGAGGAAATTAAAGCCAACTCATGTTATTCCTGCTACTCATATGTTCATAGTTTCTTACTTTAGATGGATTTGACCAGGCATGAAACTTTAATATAACTAGAATCTAGAAGTACAGAATGTCATGACTCTGGATTTACTTTGAAATTTATTCACATGGCCAGCCCAATT... | pathogenic | 93,373 |
Located at chromosome 5 position 69420262, the variant affecting gene MARVELD2 (MARVEL domain containing 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hearing_impairment'] | TCAATAATGAGTCTTGGCAGGGTGTGAATGAAAAAATTTTTTTAAGTCTTCAAACAAAATACTTATAAACAATTCGAGAGAGAAATTCAGCATACCTTAAAACTAGTAGTTAATTCACAAATGGTTTCCTTCTTTCTGTATATGGGTGCAGAGCATTGATTTCATGAATCAACAGGCTTAGTAAAAGTGCATTTTCTATGCTTTATTTTTGAGGTGGATTGAATACCTTCTGAGATACTTGAGTCTCTCCTTGGGAACAGTAAATCACCTGAATTGCCCTCGAAAGAGTAATAGTAATGGTCATTGCTGCCATTCTCTAT... | TCAATAATGAGTCTTGGCAGGGTGTGAATGAAAAAATTTTTTTAAGTCTTCAAACAAAATACTTATAAACAATTCGAGAGAGAAATTCAGCATACCTTAAAACTAGTAGTTAATTCACAAATGGTTTCCTTCTTTCTGTATATGGGTGCAGAGCATTGATTTCATGAATCAACAGGCTTAGTAAAAGTGCATTTTCTATGCTTTATTTTTGAGGTGGATTGAATACCTTCTGAGATACTTGAGTCTCTCCTTGGGAACAGTAAATCACCTGAATTGCCCTCGAAAGAGTAATAGTAATGGTCATTGCTGCCATTCTCTAT... | pathogenic | 93,403 |
Evaluate this variant at chromosome 5, position 70938848, gene SMN1 (survival of motor neuron 1, telomeric): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic | TTTGGTTTTTTTGTTTGTTTGTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCTGCCGCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGACTGCCACCACGCCAGCTAAGTTTTGTAGTTTTAGTAGAGATGGGGTTTCACCTTGTTGGCCATGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCTTCTGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACGCCCGGCCAGAATTTTTGTATTT... | TTTGGTTTTTTTGTTTGTTTGTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAATCTCTGCCGCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGACTGCCACCACGCCAGCTAAGTTTTGTAGTTTTAGTAGAGATGGGGTTTCACCTTGTTGGCCATGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCTTCTGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACGCCCGGCCAGAATTTTTGTATTT... | pathogenic | 93,431 |
For chromosome 5, position 70942751, gene SMN1 (survival of motor neuron 1, telomeric): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic | CGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGAGCAAATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCCACATGGTGAAACCCCGTCTTTATTAAAAATACAAAAATTAGCTGTGCACAGTGGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCAGTGTGACTGCACTCCAGCCCGGTGACAGAGTGAGACTCTGTGTAAAAAAATAAAATAAATAAAATAATGGCCGTAAGCAAGTAAAGAAGGATG... | CGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGAGCAAATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCCACATGGTGAAACCCCGTCTTTATTAAAAATACAAAAATTAGCTGTGCACAGTGGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCAGTGTGACTGCACTCCAGCCCGGTGACAGAGTGAGACTCTGTGTAAAAAAATAAAATAAATAAAATAATGGCCGTAAGCAAGTAAAGAAGGATG... | pathogenic | 93,437 |
Regarding the variant found on chromosome 5 at position 70942791 in gene SMN1 (survival of motor neuron 1, telomeric): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Spinal_muscular_atrophy'] | AGGCGAGCAAATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCCACATGGTGAAACCCCGTCTTTATTAAAAATACAAAAATTAGCTGTGCACAGTGGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCAGTGTGACTGCACTCCAGCCCGGTGACAGAGTGAGACTCTGTGTAAAAAAATAAAATAAATAAAATAATGGCCGTAAGCAAGTAAAGAAGGATGGCCAGCTCTTATTGGGAATGCCTAAATCTAAGGCTTGATC... | AGGCGAGCAAATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCCACATGGTGAAACCCCGTCTTTATTAAAAATACAAAAATTAGCTGTGCACAGTGGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCAGTGTGACTGCACTCCAGCCCGGTGACAGAGTGAGACTCTGTGTAAAAAAATAAAATAAATAAAATAATGGCCGTAAGCAAGTAAAGAAGGATGGCCAGCTCTTATTGGGAATGCCTAAATCTAAGGCTTGATC... | pathogenic | 93,438 |
For chromosome 5, position 70942824, gene SMN1 (survival of motor neuron 1, telomeric): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic | CCAGCCTGGCCCACATGGTGAAACCCCGTCTTTATTAAAAATACAAAAATTAGCTGTGCACAGTGGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCAGTGTGACTGCACTCCAGCCCGGTGACAGAGTGAGACTCTGTGTAAAAAAATAAAATAAATAAAATAATGGCCGTAAGCAAGTAAAGAAGGATGGCCAGCTCTTATTGGGAATGCCTAAATCTAAGGCTTGATCAGAAGTAATGAAACCGTTGGGGCCCTACATTGC... | CCAGCCTGGCCCACATGGTGAAACCCCGTCTTTATTAAAAATACAAAAATTAGCTGTGCACAGTGGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCAGTGTGACTGCACTCCAGCCCGGTGACAGAGTGAGACTCTGTGTAAAAAAATAAAATAAATAAAATAATGGCCGTAAGCAAGTAAAGAAGGATGGCCAGCTCTTATTGGGAATGCCTAAATCTAAGGCTTGATCAGAAGTAATGAAACCGTTGGGGCCCTACATTGC... | pathogenic | 93,439 |
Does the variant on chromosome 5 at location 70942834 affecting gene SMN1 (survival of motor neuron 1, telomeric) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Werdnig-Hoffmann_disease'] | CCACATGGTGAAACCCCGTCTTTATTAAAAATACAAAAATTAGCTGTGCACAGTGGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCAGTGTGACTGCACTCCAGCCCGGTGACAGAGTGAGACTCTGTGTAAAAAAATAAAATAAATAAAATAATGGCCGTAAGCAAGTAAAGAAGGATGGCCAGCTCTTATTGGGAATGCCTAAATCTAAGGCTTGATCAGAAGTAATGAAACCGTTGGGGCCCTACATTGCTATGACATCC... | CCACATGGTGAAACCCCGTCTTTATTAAAAATACAAAAATTAGCTGTGCACAGTGGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCAGTGTGACTGCACTCCAGCCCGGTGACAGAGTGAGACTCTGTGTAAAAAAATAAAATAAATAAAATAATGGCCGTAAGCAAGTAAAGAAGGATGGCCAGCTCTTATTGGGAATGCCTAAATCTAAGGCTTGATCAGAAGTAATGAAACCGTTGGGGCCCTACATTGCTATGACATCC... | pathogenic | 93,440 |
Regarding the variant at chromosome 5 and position 70946109, affecting gene SMN1 (survival of motor neuron 1, telomeric): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Werdnig-Hoffmann_disease'] | TACAGGCGCCTAGCCTAGGCAGTCATTTTCAAAAAACAAGCATGACTCACCAAAAGTTTTAAGATTTTCTGTGATAATGTTCTTATTGAGGCTTACATTATATTACAGTTTCTTGAATCTAAAATGATGTACCCTCTTAGGATATATACATCATGCTTCATTGGTCTCAGGGGGCTGATTTTTATAAGGAGAGATTTGCTAGTTTTCACAATATGTCCTCTAAGTTGGCATGTATAGCTAAACAGGCTTTCATAAAAATATACAATTTAGTTAATGAAATTTGGGATATAGTCTTTTATGATTGAAATAATTTTGCTAAA... | TACAGGCGCCTAGCCTAGGCAGTCATTTTCAAAAAACAAGCATGACTCACCAAAAGTTTTAAGATTTTCTGTGATAATGTTCTTATTGAGGCTTACATTATATTACAGTTTCTTGAATCTAAAATGATGTACCCTCTTAGGATATATACATCATGCTTCATTGGTCTCAGGGGGCTGATTTTTATAAGGAGAGATTTGCTAGTTTTCACAATATGTCCTCTAAGTTGGCATGTATAGCTAAACAGGCTTTCATAAAAATATACAATTTAGTTAATGAAATTTGGGATATAGTCTTTTATGATTGAAATAATTTTGCTAAA... | pathogenic | 93,441 |
Does the variant impacting MCCC2 (methylcrotonyl-CoA carboxylase subunit 2) on chromosome 5, position 71596313, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_2_deficiency'] | ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACATGAAGTCAGGAGTTCGAGACCAGACTGAGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCTTGTAATCCCACCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATGGTGCCATTGCACTCTAGCCTGGGTAACAGAGCGAAATTCCGTCTCAAAAAAAAAAAAAAAAGAGGTGGGTTTGACTCAATGGAGGGTTGAGGAGTCCTGTGG... | ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACATGAAGTCAGGAGTTCGAGACCAGACTGAGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCTTGTAATCCCACCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATGGTGCCATTGCACTCTAGCCTGGGTAACAGAGCGAAATTCCGTCTCAAAAAAAAAAAAAAAAGAGGTGGGTTTGACTCAATGGAGGGTTGAGGAGTCCTGTGG... | pathogenic | 93,540 |
Assess the variant on chromosome 5, position 71596362, impacting MCCC2 (methylcrotonyl-CoA carboxylase subunit 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_2_deficiency'] | AAGTCAGGAGTTCGAGACCAGACTGAGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCTTGTAATCCCACCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATGGTGCCATTGCACTCTAGCCTGGGTAACAGAGCGAAATTCCGTCTCAAAAAAAAAAAAAAAAGAGGTGGGTTTGACTCAATGGAGGGTTGAGGAGTCCTGTGGCATCAGGTGCCTGCTGGGGATGGTGGATGCTGAGGAACCGTGGTGCAGG... | AAGTCAGGAGTTCGAGACCAGACTGAGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCTTGTAATCCCACCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATGGTGCCATTGCACTCTAGCCTGGGTAACAGAGCGAAATTCCGTCTCAAAAAAAAAAAAAAAAGAGGTGGGTTTGACTCAATGGAGGGTTGAGGAGTCCTGTGGCATCAGGTGCCTGCTGGGGATGGTGGATGCTGAGGAACCGTGGTGCAGG... | pathogenic | 93,542 |
A genetic alteration at chromosome 5, position 71599725, in gene MCCC2 (methylcrotonyl-CoA carboxylase subunit 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_2_deficiency'] | GACACGTGCACACACATCCAACCTGGAGACAGCACTGTTAACACCTAGTATATTATCCTTCTAGGCCATTTGTATGCATATATATATACCAGACACCTACATTTTTTAAAAATGCAAATGAAATCGTACTAAATTTGCTGTTTTGTAGCCAGCTCTCTTTTTTCCCTCCTAATGTATCTTGACCATGTAAGTAAGTGAGAGGCGGACTAGTGGTTAAGAGCCTGGCCCCTGGGGCAAGATTGCTTATGAAGCTCCCGGCTCTGCCCCTTACTTACTGTGTAACCTTAGACAAGTGACTTGATCTCTGTGTGTTTCAGTTT... | GACACGTGCACACACATCCAACCTGGAGACAGCACTGTTAACACCTAGTATATTATCCTTCTAGGCCATTTGTATGCATATATATATACCAGACACCTACATTTTTTAAAAATGCAAATGAAATCGTACTAAATTTGCTGTTTTGTAGCCAGCTCTCTTTTTTCCCTCCTAATGTATCTTGACCATGTAAGTAAGTGAGAGGCGGACTAGTGGTTAAGAGCCTGGCCCCTGGGGCAAGATTGCTTATGAAGCTCCCGGCTCTGCCCCTTACTTACTGTGTAACCTTAGACAAGTGACTTGATCTCTGTGTGTTTCAGTTT... | pathogenic | 93,546 |
A genetic variant on chromosome 5, position 71599761, affects the gene MCCC2 (methylcrotonyl-CoA carboxylase subunit 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_2_deficiency'] | GTTAACACCTAGTATATTATCCTTCTAGGCCATTTGTATGCATATATATATACCAGACACCTACATTTTTTAAAAATGCAAATGAAATCGTACTAAATTTGCTGTTTTGTAGCCAGCTCTCTTTTTTCCCTCCTAATGTATCTTGACCATGTAAGTAAGTGAGAGGCGGACTAGTGGTTAAGAGCCTGGCCCCTGGGGCAAGATTGCTTATGAAGCTCCCGGCTCTGCCCCTTACTTACTGTGTAACCTTAGACAAGTGACTTGATCTCTGTGTGTTTCAGTTTCCTCATCAGTAAATGAGGGTCACAATAAGATCCACC... | GTTAACACCTAGTATATTATCCTTCTAGGCCATTTGTATGCATATATATATACCAGACACCTACATTTTTTAAAAATGCAAATGAAATCGTACTAAATTTGCTGTTTTGTAGCCAGCTCTCTTTTTTCCCTCCTAATGTATCTTGACCATGTAAGTAAGTGAGAGGCGGACTAGTGGTTAAGAGCCTGGCCCCTGGGGCAAGATTGCTTATGAAGCTCCCGGCTCTGCCCCTTACTTACTGTGTAACCTTAGACAAGTGACTTGATCTCTGTGTGTTTCAGTTTCCTCATCAGTAAATGAGGGTCACAATAAGATCCACC... | pathogenic | 93,548 |
Considering the genetic mutation at chromosome 5, position 71602568, impacting MCCC2 (methylcrotonyl-CoA carboxylase subunit 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_2_deficiency'] | GCATCAAATGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATCACAAGCATGAGCCATTGCTCTGGCCTTTATTATAATTCAAATTGACCTTTCTTACATAAAAATTGTTGAATGGTTTATATCATCACTACTCTTTCTCTGACAAATGACAGATGAGCTGAATTTGCTCAAATTAAGCAAAAAAGAGGATATATTGATTCTCTTATCTGGTGAGTCTGGGCATGGCTGTATCTGGGAGCTCAAATGGTCTTAGGTATTACTAGGTCCCAGGCTGTTTTCTACTCCTGGCCCTGACTTGCTGTGTGTCAGCTTTGTTT... | GCATCAAATGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATCACAAGCATGAGCCATTGCTCTGGCCTTTATTATAATTCAAATTGACCTTTCTTACATAAAAATTGTTGAATGGTTTATATCATCACTACTCTTTCTCTGACAAATGACAGATGAGCTGAATTTGCTCAAATTAAGCAAAAAAGAGGATATATTGATTCTCTTATCTGGTGAGTCTGGGCATGGCTGTATCTGGGAGCTCAAATGGTCTTAGGTATTACTAGGTCCCAGGCTGTTTTCTACTCCTGGCCCTGACTTGCTGTGTGTCAGCTTTGTTT... | pathogenic | 93,554 |
Clinical classification of chromosome 5, position 71602639, gene MCCC2 (methylcrotonyl-CoA carboxylase subunit 2): benign or pathogenic? Disease(s) if pathogenic? | benign | TTATTATAATTCAAATTGACCTTTCTTACATAAAAATTGTTGAATGGTTTATATCATCACTACTCTTTCTCTGACAAATGACAGATGAGCTGAATTTGCTCAAATTAAGCAAAAAAGAGGATATATTGATTCTCTTATCTGGTGAGTCTGGGCATGGCTGTATCTGGGAGCTCAAATGGTCTTAGGTATTACTAGGTCCCAGGCTGTTTTCTACTCCTGGCCCTGACTTGCTGTGTGTCAGCTTTGTTTCTAGGCAGCCTCTCTAAATCCAGAGGCAGTGATGGTCATAGGCAGTTCCTGGTTTATATTCTATAAGTTTA... | TTATTATAATTCAAATTGACCTTTCTTACATAAAAATTGTTGAATGGTTTATATCATCACTACTCTTTCTCTGACAAATGACAGATGAGCTGAATTTGCTCAAATTAAGCAAAAAAGAGGATATATTGATTCTCTTATCTGGTGAGTCTGGGCATGGCTGTATCTGGGAGCTCAAATGGTCTTAGGTATTACTAGGTCCCAGGCTGTTTTCTACTCCTGGCCCTGACTTGCTGTGTGTCAGCTTTGTTTCTAGGCAGCCTCTCTAAATCCAGAGGCAGTGATGGTCATAGGCAGTTCCTGGTTTATATTCTATAAGTTTA... | benign | 93,558 |
Assess the variant on chromosome 5, position 71604359, impacting MCCC2 (methylcrotonyl-CoA carboxylase subunit 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_2_deficiency'] | TTTTGTATTATATAAATTAATATGTGAACTGTGATTAAAGTTTGCATTTATATCCTAAGACTGCTGTCTGCTAATGGATGTTAATAGTGATACGTACTAGAAGTTGAAGGTTGTATTGGGGTATCTTGTAATGAGTGTAATTAGTTTTGAAGAAATCTCTTAAATTCTCTCTCCAATGAAATTTCTGCCTTTCAGAGTAGAATGCATGATTATTGCCAATGATGCCACCGTCAAAGGAGGTGCCTACTACCCAGTGACTGTGAAAAAACAATTACGGGCCCAAGAAATTGCCATGCAAAACAGGCTCCCCTGCATCTACT... | TTTTGTATTATATAAATTAATATGTGAACTGTGATTAAAGTTTGCATTTATATCCTAAGACTGCTGTCTGCTAATGGATGTTAATAGTGATACGTACTAGAAGTTGAAGGTTGTATTGGGGTATCTTGTAATGAGTGTAATTAGTTTTGAAGAAATCTCTTAAATTCTCTCTCCAATGAAATTTCTGCCTTTCAGAGTAGAATGCATGATTATTGCCAATGATGCCACCGTCAAAGGAGGTGCCTACTACCCAGTGACTGTGAAAAAACAATTACGGGCCCAAGAAATTGCCATGCAAAACAGGCTCCCCTGCATCTACT... | pathogenic | 93,561 |
Is the genetic variant on chromosome 5, position 71604424, gene MCCC2 (methylcrotonyl-CoA carboxylase subunit 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_2_deficiency'] | GTCTGCTAATGGATGTTAATAGTGATACGTACTAGAAGTTGAAGGTTGTATTGGGGTATCTTGTAATGAGTGTAATTAGTTTTGAAGAAATCTCTTAAATTCTCTCTCCAATGAAATTTCTGCCTTTCAGAGTAGAATGCATGATTATTGCCAATGATGCCACCGTCAAAGGAGGTGCCTACTACCCAGTGACTGTGAAAAAACAATTACGGGCCCAAGAAATTGCCATGCAAAACAGGCTCCCCTGCATCTACTTAGGCAAGTCACCAGAGTGGTAAAATAAACTATTATTAGCTGGTAAAATGCAAGATAGTTTGGAA... | GTCTGCTAATGGATGTTAATAGTGATACGTACTAGAAGTTGAAGGTTGTATTGGGGTATCTTGTAATGAGTGTAATTAGTTTTGAAGAAATCTCTTAAATTCTCTCTCCAATGAAATTTCTGCCTTTCAGAGTAGAATGCATGATTATTGCCAATGATGCCACCGTCAAAGGAGGTGCCTACTACCCAGTGACTGTGAAAAAACAATTACGGGCCCAAGAAATTGCCATGCAAAACAGGCTCCCCTGCATCTACTTAGGCAAGTCACCAGAGTGGTAAAATAAACTATTATTAGCTGGTAAAATGCAAGATAGTTTGGAA... | pathogenic | 93,567 |
For chromosome 5, position 71626700, gene MCCC2 (methylcrotonyl-CoA carboxylase subunit 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_2_deficiency'] | CAGGCGTGAGCTACCACACCCAGCCCCTGCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCAGGGCAACCTCCGCCTCCCAGGTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGTTTACAGGCATGCAGCACCACACCCAATTAATTTTTGTTTTTTTAGTAAATACTGGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATACACCCACCCCCACCTCCCAAAGTGCTGGGATTACAG... | CAGGCGTGAGCTACCACACCCAGCCCCTGCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCAGGGCAACCTCCGCCTCCCAGGTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGTTTACAGGCATGCAGCACCACACCCAATTAATTTTTGTTTTTTTAGTAAATACTGGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATACACCCACCCCCACCTCCCAAAGTGCTGGGATTACAG... | pathogenic | 93,573 |
Is the variant located on chromosome 5 at position 71626744, gene MCCC2 (methylcrotonyl-CoA carboxylase subunit 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_2_deficiency'] | TTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCAGGGCAACCTCCGCCTCCCAGGTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGTTTACAGGCATGCAGCACCACACCCAATTAATTTTTGTTTTTTTAGTAAATACTGGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATACACCCACCCCCACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCTGTCTAACTACATTTCAACACA... | TTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCAGGGCAACCTCCGCCTCCCAGGTTAAGTGATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGTTTACAGGCATGCAGCACCACACCCAATTAATTTTTGTTTTTTTAGTAAATACTGGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATACACCCACCCCCACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCTGTCTAACTACATTTCAACACA... | pathogenic | 93,576 |
Does the chromosome 5 mutation at position 71632119 within gene MCCC2 (methylcrotonyl-CoA carboxylase subunit 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_2_deficiency'] | GGAAGCCTGAAGTTCTGTTGGAGAACTGGACCCCATCCAGCAATCCACCTTTGAAAGACCATGTTCACAGGGAGAAAAAGGCAGTAGCAGCAGCCTCATCCTTTAGAGAATTCTAAATTCTGACGCACGCTTGACCGAATGTTGAGAAAGGGCTTTGAAGGGTTTGCACGTAGTGTGGGGTGTAGTGCTGTAGCTTTTAGTAGCTTAGAGTAGTTGAAAAAAACAGATAGTAAGACAAGTTTTTGAAGGCGCTTTTTGTTCTCCTGTCTTTTGTTTATCTTTTGAACTTGTCATTTAGTCAAATGAGCTGTTTTAATTTT... | GGAAGCCTGAAGTTCTGTTGGAGAACTGGACCCCATCCAGCAATCCACCTTTGAAAGACCATGTTCACAGGGAGAAAAAGGCAGTAGCAGCAGCCTCATCCTTTAGAGAATTCTAAATTCTGACGCACGCTTGACCGAATGTTGAGAAAGGGCTTTGAAGGGTTTGCACGTAGTGTGGGGTGTAGTGCTGTAGCTTTTAGTAGCTTAGAGTAGTTGAAAAAAACAGATAGTAAGACAAGTTTTTGAAGGCGCTTTTTGTTCTCCTGTCTTTTGTTTATCTTTTGAACTTGTCATTTAGTCAAATGAGCTGTTTTAATTTT... | pathogenic | 93,583 |
Regarding the variant found on chromosome 5 at position 71643847 in gene MCCC2 (methylcrotonyl-CoA carboxylase subunit 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_2_deficiency'] | CTAGCTGCAGAAATCCAAATTGCAAATATACATTGAGGCTTAAGGATAAATCACAGTACTTTGTCCTAGTTTGATTTGTGAACAAAAGAAGGGTTCACACTGGGAGTAGAATTTATGTTTTTGTACTTAGGTGTTTAAGTGATTAAAAGCTTTTTGTTTGATATATAGACAGGATTTGTCACCAAATTGTTCAGAATGTAACAGTCATTGTGTAGCAGTTTAAAACAAGTCAAAGCCATTTCTGCTTTCTGTAAAGATGGATGGGCTGTCTTTGTCATCTGCTTTTATGGATTTGCCTCCTACTTGCTAAAAGCCCTGTG... | CTAGCTGCAGAAATCCAAATTGCAAATATACATTGAGGCTTAAGGATAAATCACAGTACTTTGTCCTAGTTTGATTTGTGAACAAAAGAAGGGTTCACACTGGGAGTAGAATTTATGTTTTTGTACTTAGGTGTTTAAGTGATTAAAAGCTTTTTGTTTGATATATAGACAGGATTTGTCACCAAATTGTTCAGAATGTAACAGTCATTGTGTAGCAGTTTAAAACAAGTCAAAGCCATTTCTGCTTTCTGTAAAGATGGATGGGCTGTCTTTGTCATCTGCTTTTATGGATTTGCCTCCTACTTGCTAAAAGCCCTGTG... | pathogenic | 93,603 |
Is chromosome 5, position 71643890, gene MCCC2 (methylcrotonyl-CoA carboxylase subunit 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_2_deficiency'] | GGATAAATCACAGTACTTTGTCCTAGTTTGATTTGTGAACAAAAGAAGGGTTCACACTGGGAGTAGAATTTATGTTTTTGTACTTAGGTGTTTAAGTGATTAAAAGCTTTTTGTTTGATATATAGACAGGATTTGTCACCAAATTGTTCAGAATGTAACAGTCATTGTGTAGCAGTTTAAAACAAGTCAAAGCCATTTCTGCTTTCTGTAAAGATGGATGGGCTGTCTTTGTCATCTGCTTTTATGGATTTGCCTCCTACTTGCTAAAAGCCCTGTGGCACTCTTATCCCCTAGAGTACACAACCTGGTTTCTTCCATCT... | GGATAAATCACAGTACTTTGTCCTAGTTTGATTTGTGAACAAAAGAAGGGTTCACACTGGGAGTAGAATTTATGTTTTTGTACTTAGGTGTTTAAGTGATTAAAAGCTTTTTGTTTGATATATAGACAGGATTTGTCACCAAATTGTTCAGAATGTAACAGTCATTGTGTAGCAGTTTAAAACAAGTCAAAGCCATTTCTGCTTTCTGTAAAGATGGATGGGCTGTCTTTGTCATCTGCTTTTATGGATTTGCCTCCTACTTGCTAAAAGCCCTGTGGCACTCTTATCCCCTAGAGTACACAACCTGGTTTCTTCCATCT... | pathogenic | 93,605 |
The genetic variant at chromosome 5, position 71646192, affecting gene MCCC2 (methylcrotonyl-CoA carboxylase subunit 2): benign or pathogenic? Disease name(s) if pathogenic? | benign | GTGACGAACCATCTGGAGCACTATTAAAAATGTACTCATTTTAGGAAAATTCTCCTAAGATACTTGAGTTATAATTGCTATAGAGGACATGTACATATTCTCAGTTGATAGAGAATACTTGTCCTGAAAGTGCTTCATGTCCTGGAGGGACTCAGAGGTCTCATGGTTCAAAGATTCAGGTGGTTCTGAGACATGATCTGTTTATTCTCTTCTATCCCATTATCGCTTTAACTTTATTGTATTTTTACTTTTTGGAAATGAGAATAGTGGGTCTTTGTTACTGGACCCGTGACTTTAAAAAAGGAAGTTCTTTTTATTTA... | GTGACGAACCATCTGGAGCACTATTAAAAATGTACTCATTTTAGGAAAATTCTCCTAAGATACTTGAGTTATAATTGCTATAGAGGACATGTACATATTCTCAGTTGATAGAGAATACTTGTCCTGAAAGTGCTTCATGTCCTGGAGGGACTCAGAGGTCTCATGGTTCAAAGATTCAGGTGGTTCTGAGACATGATCTGTTTATTCTCTTCTATCCCATTATCGCTTTAACTTTATTGTATTTTTACTTTTTGGAAATGAGAATAGTGGGTCTTTGTTACTGGACCCGTGACTTTAAAAAAGGAAGTTCTTTTTATTTA... | benign | 93,608 |
A mutation at chromosome position 71650106 on chromosome 5 in gene MCCC2 (methylcrotonyl-CoA carboxylase subunit 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_2_deficiency'] | GGGTCCAGCTGAGTAGGATAGCTGCAGGAAGCAGATGGTGCCAAGTAAAGGGCTGTGCTGCCATTCCTGTGGTGACTGCAGAAGGCACACGTGCTCTGGAGGAACTGGTTGGGTTGAATTGGATGACCAGATACTGGAGTTTGGCAAACCAGGGATAGTGGCAGTCAATGAGGCAGGTGAGTCTGCAGGCCCACAGATGGAAGAAATGCCTTTGCTGGAGACTTGCGGGGTAAGGAGACAAGCGAAGCCCAACTCAGTGTTATAAGGCAGAGAAAGAGGAACCCAAGTTCTGGAAGGCAGTGAAGTTGCAGAGCAGCCTC... | GGGTCCAGCTGAGTAGGATAGCTGCAGGAAGCAGATGGTGCCAAGTAAAGGGCTGTGCTGCCATTCCTGTGGTGACTGCAGAAGGCACACGTGCTCTGGAGGAACTGGTTGGGTTGAATTGGATGACCAGATACTGGAGTTTGGCAAACCAGGGATAGTGGCAGTCAATGAGGCAGGTGAGTCTGCAGGCCCACAGATGGAAGAAATGCCTTTGCTGGAGACTTGCGGGGTAAGGAGACAAGCGAAGCCCAACTCAGTGTTATAAGGCAGAGAAAGAGGAACCCAAGTTCTGGAAGGCAGTGAAGTTGCAGAGCAGCCTC... | pathogenic | 93,621 |
Does the variant impacting MCCC2 (methylcrotonyl-CoA carboxylase subunit 2) on chromosome 5, position 71656823, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_2_deficiency'] | CAGAGAGACTTATCTTTGGAAATAAATGTTAACAGACAGTAAAGTTTTCTGTGGATCTGTAGATTTTTTTTTTTTTTTTTTGAGACAGAGTTTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACTTCCGCCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCTGGCTAATTTTGTATTTTTAATAGAGATGGGGTTTCTCCATGTTGGTCAGGCTTGTCTCGAACTCCCAACCTCAGGTGATCCACCCGCCTCGGCTTCCCA... | CAGAGAGACTTATCTTTGGAAATAAATGTTAACAGACAGTAAAGTTTTCTGTGGATCTGTAGATTTTTTTTTTTTTTTTTTGAGACAGAGTTTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACTTCCGCCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCCTGGCTAATTTTGTATTTTTAATAGAGATGGGGTTTCTCCATGTTGGTCAGGCTTGTCTCGAACTCCCAACCTCAGGTGATCCACCCGCCTCGGCTTCCCA... | pathogenic | 93,638 |
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