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 |
|---|---|---|---|---|---|
Classify the chromosome 4 variant at position 139361948 affecting gene NAA15 (N-alpha-acetyltransferase 15, NatA auxiliary subunit) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GTACAGCTAGTGTTCTTAATTATGAATAAAGAAGACATGAGCCAGTTCATACTTGTATAACATGCTTATTTTTCAAAGTTTGTCTTTAATATTTTTGACACCGTAATAGCCAAGATTTTAATTAAATCACTGTATCAGAAGATACTGGAGTCAACATTGATATAAAGGATTTTCCATTTAGAGGGTTGTACAATGGACTTTTAAACTGGTTTATATTCATGTACGTTCAGATAAATTTTTTAGGGGTCAAGGGAACTAAAATTTATTGAATACCTGCTATGTGGTGGTGTTCTTTTTCTTGTATTAATCCCTACCCTCAA... | GTACAGCTAGTGTTCTTAATTATGAATAAAGAAGACATGAGCCAGTTCATACTTGTATAACATGCTTATTTTTCAAAGTTTGTCTTTAATATTTTTGACACCGTAATAGCCAAGATTTTAATTAAATCACTGTATCAGAAGATACTGGAGTCAACATTGATATAAAGGATTTTCCATTTAGAGGGTTGTACAATGGACTTTTAAACTGGTTTATATTCATGTACGTTCAGATAAATTTTTTAGGGGTCAAGGGAACTAAAATTTATTGAATACCTGCTATGTGGTGGTGTTCTTTTTCTTGTATTAATCCCTACCCTCAA... | benign | 86,712 |
Variant chromosome 4, position 139370290, gene NAA15 (N-alpha-acetyltransferase 15, NatA auxiliary subunit): benign or pathogenic? Disease(s)? | pathogenic | GCTGTATGTTTCTGAAGACTCTGGGTCTCTCAGGCAGCTGAAGTCAAGATGTTGGCTGGGCACGGTGGTTCATGCCTGTAGTCCTAATGCTTTGGGAAGCTGAGGCGGGTGGTTGCTTGAGTCTAGGAGTTCGAGACCAGCCTCGTCAACATAGTGAGACCCTGTCTCTATTTATATTTTAAAATTTAAAAAGTTGCCAGCTGGAGCATCTGAAGGATCAGCTTGGCTTGGAGGATCTCCTTCCATGATGGCTTACTCTCATGGCCAGAGGCATCAGTTCTTGGCCATACATTGGTCTTTCCATAAGATTGAGTTTCCTC... | GCTGTATGTTTCTGAAGACTCTGGGTCTCTCAGGCAGCTGAAGTCAAGATGTTGGCTGGGCACGGTGGTTCATGCCTGTAGTCCTAATGCTTTGGGAAGCTGAGGCGGGTGGTTGCTTGAGTCTAGGAGTTCGAGACCAGCCTCGTCAACATAGTGAGACCCTGTCTCTATTTATATTTTAAAATTTAAAAAGTTGCCAGCTGGAGCATCTGAAGGATCAGCTTGGCTTGGAGGATCTCCTTCCATGATGGCTTACTCTCATGGCCAGAGGCATCAGTTCTTGGCCATACATTGGTCTTTCCATAAGATTGAGTTTCCTC... | pathogenic | 86,714 |
Clinical classification of chromosome 4, position 143536482, gene SMARCA5 (SNF2 related chromatin remodeling ATPase 5): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Failure_to_thrive', 'Microcephaly', 'Pubertal_developmental_failure_in_females', 'Short_stature'] | AAATAAAATAGATGGTTCCATCTGTGTTAAATATACCGACCTTTTCCTTGTCATTATTCCCTAAACGGTATAGTGTAACAACTATTAACATAGCATTTACATTCCATTAACTATTATTATAAGTAATCTAGAGATGATTTAAAGTATATGGGAGGATGTTTGTAGGTTATATGCAAATACTACATTTTTTATAATGGACTCGAGCATTTGTGGATTTTGGTATTCAAAGGGAAGGGGACAGGAACTAGTCTCCCACAGATACTGAGATATGACTGTATTTGCAGGGAGAAGTCCTAAGAAATCACTTGATACTCACGCAG... | AAATAAAATAGATGGTTCCATCTGTGTTAAATATACCGACCTTTTCCTTGTCATTATTCCCTAAACGGTATAGTGTAACAACTATTAACATAGCATTTACATTCCATTAACTATTATTATAAGTAATCTAGAGATGATTTAAAGTATATGGGAGGATGTTTGTAGGTTATATGCAAATACTACATTTTTTATAATGGACTCGAGCATTTGTGGATTTTGGTATTCAAAGGGAAGGGGACAGGAACTAGTCTCCCACAGATACTGAGATATGACTGTATTTGCAGGGAGAAGTCCTAAGAAATCACTTGATACTCACGCAG... | pathogenic | 86,761 |
A genetic alteration at chromosome 4, position 145639432, in gene MMAA (metabolism of cobalamin associated A)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Methylmalonic_aciduria,_cblA_type'] | ACATTTTTAATTGTCCTTTTAGAATAAGGCTAATTTTGTACAAATAGACATTATAATGCACCCCCCACCCCACCGCCCCATAGAGAAAAAGTTGTTGTTTTTGGAAAACTGATGAGCACTTATAGTTCTACCAGTTTAAAAAATCTTAAACTATTCTTTTTTCCCTAATAGAATGTTAAGAAGCTAAAATTAATTTCATGTTCATCGGCCTTGAAGTGCCATTTACAGGTATACCTTGGAGCAATAATTTATTCCACCATGCCACAAGGTGCTTGAAAATCAACCAAAATTTACAAATACTCATAAACCCAAACTGGGTG... | ACATTTTTAATTGTCCTTTTAGAATAAGGCTAATTTTGTACAAATAGACATTATAATGCACCCCCCACCCCACCGCCCCATAGAGAAAAAGTTGTTGTTTTTGGAAAACTGATGAGCACTTATAGTTCTACCAGTTTAAAAAATCTTAAACTATTCTTTTTTCCCTAATAGAATGTTAAGAAGCTAAAATTAATTTCATGTTCATCGGCCTTGAAGTGCCATTTACAGGTATACCTTGGAGCAATAATTTATTCCACCATGCCACAAGGTGCTTGAAAATCAACCAAAATTTACAAATACTCATAAACCCAAACTGGGTG... | pathogenic | 86,786 |
Gene MMAA (metabolism of cobalamin associated A) variant at chromosome 4, position 145639546—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Methylmalonic_acidemia', 'Methylmalonic_aciduria,_cblA_type'] | AGCACTTATAGTTCTACCAGTTTAAAAAATCTTAAACTATTCTTTTTTCCCTAATAGAATGTTAAGAAGCTAAAATTAATTTCATGTTCATCGGCCTTGAAGTGCCATTTACAGGTATACCTTGGAGCAATAATTTATTCCACCATGCCACAAGGTGCTTGAAAATCAACCAAAATTTACAAATACTCATAAACCCAAACTGGGTGAGTTATATATAACTGTAAATTTTAGTTTGCTACTGGAAGAATTATTACCAGTGTTTCATAACTTGGTGTAATTAAAATAAAAGCTAAGGTTAATTGAGCTCTTACTGCATGGTA... | AGCACTTATAGTTCTACCAGTTTAAAAAATCTTAAACTATTCTTTTTTCCCTAATAGAATGTTAAGAAGCTAAAATTAATTTCATGTTCATCGGCCTTGAAGTGCCATTTACAGGTATACCTTGGAGCAATAATTTATTCCACCATGCCACAAGGTGCTTGAAAATCAACCAAAATTTACAAATACTCATAAACCCAAACTGGGTGAGTTATATATAACTGTAAATTTTAGTTTGCTACTGGAAGAATTATTACCAGTGTTTCATAACTTGGTGTAATTAAAATAAAAGCTAAGGTTAATTGAGCTCTTACTGCATGGTA... | pathogenic | 86,791 |
Chromosome 4, position 145639578, gene MMAA (metabolism of cobalamin associated A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Methylmalonic_aciduria,_cblA_type'] | TAAACTATTCTTTTTTCCCTAATAGAATGTTAAGAAGCTAAAATTAATTTCATGTTCATCGGCCTTGAAGTGCCATTTACAGGTATACCTTGGAGCAATAATTTATTCCACCATGCCACAAGGTGCTTGAAAATCAACCAAAATTTACAAATACTCATAAACCCAAACTGGGTGAGTTATATATAACTGTAAATTTTAGTTTGCTACTGGAAGAATTATTACCAGTGTTTCATAACTTGGTGTAATTAAAATAAAAGCTAAGGTTAATTGAGCTCTTACTGCATGGTAGACACTGTTCTAAGCTTTTTACAAGAATTGTC... | TAAACTATTCTTTTTTCCCTAATAGAATGTTAAGAAGCTAAAATTAATTTCATGTTCATCGGCCTTGAAGTGCCATTTACAGGTATACCTTGGAGCAATAATTTATTCCACCATGCCACAAGGTGCTTGAAAATCAACCAAAATTTACAAATACTCATAAACCCAAACTGGGTGAGTTATATATAACTGTAAATTTTAGTTTGCTACTGGAAGAATTATTACCAGTGTTTCATAACTTGGTGTAATTAAAATAAAAGCTAAGGTTAATTGAGCTCTTACTGCATGGTAGACACTGTTCTAAGCTTTTTACAAGAATTGTC... | pathogenic | 86,794 |
Considering the genetic mutation at chromosome 4, position 145642370, impacting MMAA (metabolism of cobalamin associated A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Methylmalonic_acidemia', 'Methylmalonic_aciduria,_cblA_type'] | AGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACTACTGTGCTCAGCTATTTTTAGTCTCACTCTATCACCCAGGCTGGAATGCAGTGGTGATCATAGCTCTGACATCATGCTTGGCTCCAATATCATGCCTCCAACATCATCCTTGGCTAATTTTTTTTAGAAGTTTTTTGTAGAGATGGGGTCTCATTATGTTGCCCAGGCTGGTATCAAACTCCTGGGCTCAAGCAGTCCTCCCACCTTGGCCTACCAAAGTGCTGGGACTACAGGCATGGGCT... | AGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACTACTGTGCTCAGCTATTTTTAGTCTCACTCTATCACCCAGGCTGGAATGCAGTGGTGATCATAGCTCTGACATCATGCTTGGCTCCAATATCATGCCTCCAACATCATCCTTGGCTAATTTTTTTTAGAAGTTTTTTGTAGAGATGGGGTCTCATTATGTTGCCCAGGCTGGTATCAAACTCCTGGGCTCAAGCAGTCCTCCCACCTTGGCCTACCAAAGTGCTGGGACTACAGGCATGGGCT... | pathogenic | 86,798 |
Is the variant located on chromosome 4 at position 145642373, gene MMAA (metabolism of cobalamin associated A), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Methylmalonic_aciduria,_cblA_type'] | CTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACTACTGTGCTCAGCTATTTTTAGTCTCACTCTATCACCCAGGCTGGAATGCAGTGGTGATCATAGCTCTGACATCATGCTTGGCTCCAATATCATGCCTCCAACATCATCCTTGGCTAATTTTTTTTAGAAGTTTTTTGTAGAGATGGGGTCTCATTATGTTGCCCAGGCTGGTATCAAACTCCTGGGCTCAAGCAGTCCTCCCACCTTGGCCTACCAAAGTGCTGGGACTACAGGCATGGGCTACC... | CTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACTACTGTGCTCAGCTATTTTTAGTCTCACTCTATCACCCAGGCTGGAATGCAGTGGTGATCATAGCTCTGACATCATGCTTGGCTCCAATATCATGCCTCCAACATCATCCTTGGCTAATTTTTTTTAGAAGTTTTTTGTAGAGATGGGGTCTCATTATGTTGCCCAGGCTGGTATCAAACTCCTGGGCTCAAGCAGTCCTCCCACCTTGGCCTACCAAAGTGCTGGGACTACAGGCATGGGCTACC... | pathogenic | 86,799 |
Chromosome 4, position 145642473, gene MMAA (metabolism of cobalamin associated A): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Methylmalonic_aciduria,_cblA_type'] | ACTCTATCACCCAGGCTGGAATGCAGTGGTGATCATAGCTCTGACATCATGCTTGGCTCCAATATCATGCCTCCAACATCATCCTTGGCTAATTTTTTTTAGAAGTTTTTTGTAGAGATGGGGTCTCATTATGTTGCCCAGGCTGGTATCAAACTCCTGGGCTCAAGCAGTCCTCCCACCTTGGCCTACCAAAGTGCTGGGACTACAGGCATGGGCTACCATGCCCAGCCTATCAAAATGTACTTTAAGAAAGAGATCATATTTATTTATTGTCTGTATATTAGATGTTCATTTGATTTCTTGAACAATTTGACTTGGTT... | ACTCTATCACCCAGGCTGGAATGCAGTGGTGATCATAGCTCTGACATCATGCTTGGCTCCAATATCATGCCTCCAACATCATCCTTGGCTAATTTTTTTTAGAAGTTTTTTGTAGAGATGGGGTCTCATTATGTTGCCCAGGCTGGTATCAAACTCCTGGGCTCAAGCAGTCCTCCCACCTTGGCCTACCAAAGTGCTGGGACTACAGGCATGGGCTACCATGCCCAGCCTATCAAAATGTACTTTAAGAAAGAGATCATATTTATTTATTGTCTGTATATTAGATGTTCATTTGATTTCTTGAACAATTTGACTTGGTT... | pathogenic | 86,800 |
The mutation in gene MMAA (metabolism of cobalamin associated A) at chromosome 4, position 145646012—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['MMAA-related_disorder', 'Methylmalonic_acidemia', 'Methylmalonic_aciduria,_cblA_type'] | GAAAGAAAAAAATACAAGGATAGACAAAACACTATGAATATAAATTTCTACCTTATTGTATCAGTGCATACACTTGAAAAACAGCATTACATTAAAGTTTGAGAAGCATTAGTTTTTTGGTCTATAGTCAATCTTTTTTGTGCTTTAAATTCACAGACCCCCTGTGATAGCTTTGAGACCTTCGTGAGAGTCTACAATTAACAGTTTTGGAATTTCTGGCTAAGACATAGGAAAGTAATTTCCTAATGTTTACTTCAGTGTGATGGGATCTATAGGATAGTAATTTAAAGTATAGCTTTGGCAGATTGTTTACTTACACA... | GAAAGAAAAAAATACAAGGATAGACAAAACACTATGAATATAAATTTCTACCTTATTGTATCAGTGCATACACTTGAAAAACAGCATTACATTAAAGTTTGAGAAGCATTAGTTTTTTGGTCTATAGTCAATCTTTTTTGTGCTTTAAATTCACAGACCCCCTGTGATAGCTTTGAGACCTTCGTGAGAGTCTACAATTAACAGTTTTGGAATTTCTGGCTAAGACATAGGAAAGTAATTTCCTAATGTTTACTTCAGTGTGATGGGATCTATAGGATAGTAATTTAAAGTATAGCTTTGGCAGATTGTTTACTTACACA... | pathogenic | 86,804 |
Clinical classification of chromosome 4, position 145646061, gene MMAA (metabolism of cobalamin associated A): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['MMAA-related_disorder', 'Methylmalonic_aciduria,_cblA_type'] | ACCTTATTGTATCAGTGCATACACTTGAAAAACAGCATTACATTAAAGTTTGAGAAGCATTAGTTTTTTGGTCTATAGTCAATCTTTTTTGTGCTTTAAATTCACAGACCCCCTGTGATAGCTTTGAGACCTTCGTGAGAGTCTACAATTAACAGTTTTGGAATTTCTGGCTAAGACATAGGAAAGTAATTTCCTAATGTTTACTTCAGTGTGATGGGATCTATAGGATAGTAATTTAAAGTATAGCTTTGGCAGATTGTTTACTTACACAGAGATTATTTCATGCAGAAAATTACCTTAGAAAAAGGTTGTATGTGAAG... | ACCTTATTGTATCAGTGCATACACTTGAAAAACAGCATTACATTAAAGTTTGAGAAGCATTAGTTTTTTGGTCTATAGTCAATCTTTTTTGTGCTTTAAATTCACAGACCCCCTGTGATAGCTTTGAGACCTTCGTGAGAGTCTACAATTAACAGTTTTGGAATTTCTGGCTAAGACATAGGAAAGTAATTTCCTAATGTTTACTTCAGTGTGATGGGATCTATAGGATAGTAATTTAAAGTATAGCTTTGGCAGATTGTTTACTTACACAGAGATTATTTCATGCAGAAAATTACCTTAGAAAAAGGTTGTATGTGAAG... | pathogenic | 86,806 |
Variant at chromosome 4, position 145646073, gene MMAA (metabolism of cobalamin associated A): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Methylmalonic_aciduria,_cblA_type'] | CAGTGCATACACTTGAAAAACAGCATTACATTAAAGTTTGAGAAGCATTAGTTTTTTGGTCTATAGTCAATCTTTTTTGTGCTTTAAATTCACAGACCCCCTGTGATAGCTTTGAGACCTTCGTGAGAGTCTACAATTAACAGTTTTGGAATTTCTGGCTAAGACATAGGAAAGTAATTTCCTAATGTTTACTTCAGTGTGATGGGATCTATAGGATAGTAATTTAAAGTATAGCTTTGGCAGATTGTTTACTTACACAGAGATTATTTCATGCAGAAAATTACCTTAGAAAAAGGTTGTATGTGAAGTAAATAAGGAAG... | CAGTGCATACACTTGAAAAACAGCATTACATTAAAGTTTGAGAAGCATTAGTTTTTTGGTCTATAGTCAATCTTTTTTGTGCTTTAAATTCACAGACCCCCTGTGATAGCTTTGAGACCTTCGTGAGAGTCTACAATTAACAGTTTTGGAATTTCTGGCTAAGACATAGGAAAGTAATTTCCTAATGTTTACTTCAGTGTGATGGGATCTATAGGATAGTAATTTAAAGTATAGCTTTGGCAGATTGTTTACTTACACAGAGATTATTTCATGCAGAAAATTACCTTAGAAAAAGGTTGTATGTGAAGTAAATAAGGAAG... | pathogenic | 86,808 |
Determine if the mutation at chromosome 4, position 145651083 in gene MMAA (metabolism of cobalamin associated A) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Methylmalonic_aciduria,_cblA_type'] | TCCCAGCAGTTCAGGAGGCCAAGGTGGAAGGATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGCCTTGGTTCTATCAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCATTGTGTTACACACCTGTAGTTCCATCTATTCAGGAGGCTGAGGTGAAAGAATGGCTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCCACGATCGTGCCATTGCACTCTAGCCTGGGCAACAGAGCAAGACCCAATCTCTCTTTAAAATACAAAGGAGCCTGAGGCAGGCAGTCCACAGCAGGTATGGTGCTTTGA... | TCCCAGCAGTTCAGGAGGCCAAGGTGGAAGGATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGCCTTGGTTCTATCAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGCATTGTGTTACACACCTGTAGTTCCATCTATTCAGGAGGCTGAGGTGAAAGAATGGCTTGAGCCCAGGAGTTCAAGGCTGCAGTGAGCCACGATCGTGCCATTGCACTCTAGCCTGGGCAACAGAGCAAGACCCAATCTCTCTTTAAAATACAAAGGAGCCTGAGGCAGGCAGTCCACAGCAGGTATGGTGCTTTGA... | pathogenic | 86,819 |
Variant in MMAA (metabolism of cobalamin associated A), chromosome 4, position 145654134—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Methylmalonic_aciduria,_cblA_type'] | GCAGCGTGCTTATAAAGGAGACAAATCAGGACCATCCAAATGAAGACACACATAAGAAGCCTGGGAGGGCCGAAATGCAAAGCTTCTGTGTCCTCAAGACACATTTCTCTCCTGGCATATTGATGTGTATCACCAACCAGAAGGCTCCCCTGAGCTTTAGTGTCCCAAGTTTTTCTTGGGGTTTCATTATGTAGGCATGATTGACTGAATAATTGAAGTTGATCTCTAGCCCCTGTCCCCTCCCTGGAAGTTGGGTTGATATCACATGGCATAAAACCCCAACCCTCTAATCACATGATAAGTCTTTCTGCCATGGTCAG... | GCAGCGTGCTTATAAAGGAGACAAATCAGGACCATCCAAATGAAGACACACATAAGAAGCCTGGGAGGGCCGAAATGCAAAGCTTCTGTGTCCTCAAGACACATTTCTCTCCTGGCATATTGATGTGTATCACCAACCAGAAGGCTCCCCTGAGCTTTAGTGTCCCAAGTTTTTCTTGGGGTTTCATTATGTAGGCATGATTGACTGAATAATTGAAGTTGATCTCTAGCCCCTGTCCCCTCCCTGGAAGTTGGGTTGATATCACATGGCATAAAACCCCAACCCTCTAATCACATGATAAGTCTTTCTGCCATGGTCAG... | pathogenic | 86,824 |
Regarding the variant at chromosome 4 and position 145655208, affecting gene MMAA (metabolism of cobalamin associated A): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Methylmalonic_aciduria,_cblA_type'] | ACCACACCTAGCCCAGACAAATTATTTGTTATACAATGCTTCTGTTTCAATTTTATAATTCTAAAACATAGTGATTGCAGACTATCGCTGCTTATTTAGAAACATTAACTATTAGTATTTCATAATTGAATGTTTTGTTTAAAAATATTTGAAAAGAAATTTTAATCTTATGTAGAAAAATCTGTATTTACTAAATAAGGTTTGGCTTTTGGATTTCATCCTTTATTTCTAATATTTTTATGTGACATAATTTGAATTAAGAGATTGAGGTTTGTCCACGCAAAGCTGAAATAAGAAAAATACAAAGTATAAAAATAAAT... | ACCACACCTAGCCCAGACAAATTATTTGTTATACAATGCTTCTGTTTCAATTTTATAATTCTAAAACATAGTGATTGCAGACTATCGCTGCTTATTTAGAAACATTAACTATTAGTATTTCATAATTGAATGTTTTGTTTAAAAATATTTGAAAAGAAATTTTAATCTTATGTAGAAAAATCTGTATTTACTAAATAAGGTTTGGCTTTTGGATTTCATCCTTTATTTCTAATATTTTTATGTGACATAATTTGAATTAAGAGATTGAGGTTTGTCCACGCAAAGCTGAAATAAGAAAAATACAAAGTATAAAAATAAAT... | pathogenic | 86,828 |
The mutation impacting MMAA (metabolism of cobalamin associated A) on chromosome 4 at position 145655290: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Methylmalonic_aciduria,_cblA_type'] | TATCGCTGCTTATTTAGAAACATTAACTATTAGTATTTCATAATTGAATGTTTTGTTTAAAAATATTTGAAAAGAAATTTTAATCTTATGTAGAAAAATCTGTATTTACTAAATAAGGTTTGGCTTTTGGATTTCATCCTTTATTTCTAATATTTTTATGTGACATAATTTGAATTAAGAGATTGAGGTTTGTCCACGCAAAGCTGAAATAAGAAAAATACAAAGTATAAAAATAAATAATAATAAAAAAAGAGATTGACATATTTTTAGGCATCAGGTTCTTTTTCCTCAAATGCAAATTGAAAATAAAATGCTATATA... | TATCGCTGCTTATTTAGAAACATTAACTATTAGTATTTCATAATTGAATGTTTTGTTTAAAAATATTTGAAAAGAAATTTTAATCTTATGTAGAAAAATCTGTATTTACTAAATAAGGTTTGGCTTTTGGATTTCATCCTTTATTTCTAATATTTTTATGTGACATAATTTGAATTAAGAGATTGAGGTTTGTCCACGCAAAGCTGAAATAAGAAAAATACAAAGTATAAAAATAAATAATAATAAAAAAAGAGATTGACATATTTTTAGGCATCAGGTTCTTTTTCCTCAAATGCAAATTGAAAATAAAATGCTATATA... | pathogenic | 86,834 |
Considering the genetic mutation at chromosome 4, position 147535857, impacting EDNRA (endothelin receptor type A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CAGACAAAATGAAATGGGCTGTTTCATAAAGACTGTCTCCTATCTAGACGTGTTCAAGTAAAGGGTAGCTACCCTTCAGGCATGGGTGGGCTAGACGGTTGCAGTAAAGGGTATGAGTTGAACAGATAATTTTTTAGAGTTCATTCCAAGTCTGAAGTCCTGTTCTCTTTTTCTAAATTTATTTCCCCTATTTTTTCCATTCTTGCTCTTCAACTTTACCCTAGACTGATGGTAGGCCCCTCTCTACCCATGTTGATGACATCAGTTCCAAAGAGATGCATTACCCATTTCTCTGTGGGCCTTTGCCATGGAGGGGGCAG... | CAGACAAAATGAAATGGGCTGTTTCATAAAGACTGTCTCCTATCTAGACGTGTTCAAGTAAAGGGTAGCTACCCTTCAGGCATGGGTGGGCTAGACGGTTGCAGTAAAGGGTATGAGTTGAACAGATAATTTTTTAGAGTTCATTCCAAGTCTGAAGTCCTGTTCTCTTTTTCTAAATTTATTTCCCCTATTTTTTCCATTCTTGCTCTTCAACTTTACCCTAGACTGATGGTAGGCCCCTCTCTACCCATGTTGATGACATCAGTTCCAAAGAGATGCATTACCCATTTCTCTGTGGGCCTTTGCCATGGAGGGGGCAG... | benign | 86,864 |
Gene mutation in NR3C2 (nuclear receptor subfamily 3 group C member 2) at chromosome 4, position 148436303—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic | CCAATCCAAGTATTCACTGTATAACTTAGAACCACCCTTTATAGTCATATCTAAAACCTCTTCCTTGTTTTTTCTAAATATATACAACATGCTATCTGCAACAAGGAAAGCCAAGAGATATTTTACAGTAAATAAAATATGTCTTCTTGCAGATCTGAAAAGTTATAAATATACCAATTCAAAACTGCAGTGACATATTTCACTTCCAATATAAGTAAGAAAGCAAGATTGTCCACTTAGTAATTTTAGATATGCTGAGTCTTTAAAAGCTCTCAACAGTTAAGGAAATGATTTATTTGTATTGAAAAACCACAACTTTC... | CCAATCCAAGTATTCACTGTATAACTTAGAACCACCCTTTATAGTCATATCTAAAACCTCTTCCTTGTTTTTTCTAAATATATACAACATGCTATCTGCAACAAGGAAAGCCAAGAGATATTTTACAGTAAATAAAATATGTCTTCTTGCAGATCTGAAAAGTTATAAATATACCAATTCAAAACTGCAGTGACATATTTCACTTCCAATATAAGTAAGAAAGCAAGATTGTCCACTTAGTAATTTTAGATATGCTGAGTCTTTAAAAGCTCTCAACAGTTAAGGAAATGATTTATTTGTATTGAAAAACCACAACTTTC... | pathogenic | 86,917 |
Clinical impact (benign or pathogenic) of the variant at chromosome 4, location 150282620, gene LRBA (LPS responsive beige-like anchor protein): what disease(s) if pathogenic? | pathogenic; ['Combined_immunodeficiency_due_to_LRBA_deficiency'] | CACAGAGCAATCTGGCATCTAAAATAAAAATAGGTGGGAAGTGCAGAGCTTCCCCAGGCTGCCTGCCTGCAGGGTTCTTGGTATTTCACAGAAACTTAATTTCTGGTCTGAGCTGATGACTAATTTGTTTCCATGGTGTCCATTCCTTATATGGGCTCAGATTGAGGAAGGAGCTGGAGATTCTGCCCTGTGGTGTCTTGGATTCCCAGCCTGTGGCTTCCTTCCTCGCCTCCCGAGGTAGTGAGCTGTGAAAGTATCAGTCTCTGGAGCTGTGGGCAGGTATTGCTCATTTTAGGCAAGCTCGCTTTAATCACACAGTT... | CACAGAGCAATCTGGCATCTAAAATAAAAATAGGTGGGAAGTGCAGAGCTTCCCCAGGCTGCCTGCCTGCAGGGTTCTTGGTATTTCACAGAAACTTAATTTCTGGTCTGAGCTGATGACTAATTTGTTTCCATGGTGTCCATTCCTTATATGGGCTCAGATTGAGGAAGGAGCTGGAGATTCTGCCCTGTGGTGTCTTGGATTCCCAGCCTGTGGCTTCCTTCCTCGCCTCCCGAGGTAGTGAGCTGTGAAAGTATCAGTCTCTGGAGCTGTGGGCAGGTATTGCTCATTTTAGGCAAGCTCGCTTTAATCACACAGTT... | pathogenic | 86,933 |
Determine whether the variant at chromosome 4, position 150286041, in gene LRBA (LPS responsive beige-like anchor protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AAAAAGGGGTATTGGCCAACAAAGATGAAACTGCAGTAAAGAAATGGAAAATGATAAAACTGAAAGTACAATTTGAATTGAATATAAATGGAATTATAGAAGAGCGAGCTGCCTGTGGGATGCTGACCCTGCTGAGACACTGTAGATATGCAGCCAGGAAGGGAATGAAGGAACTTATCAGTGTAAGTTAGGGAAGAAGGTGTAACAAAAATGTCCCAGAATTTAAACCAGCAAAAGCCTCACATTAAAGGAATTCTAGGGAATATTTCATGACATTGAAAGCACAAAAGATAAAATGTTAGATGCTGGTTCCAACTTAG... | AAAAAGGGGTATTGGCCAACAAAGATGAAACTGCAGTAAAGAAATGGAAAATGATAAAACTGAAAGTACAATTTGAATTGAATATAAATGGAATTATAGAAGAGCGAGCTGCCTGTGGGATGCTGACCCTGCTGAGACACTGTAGATATGCAGCCAGGAAGGGAATGAAGGAACTTATCAGTGTAAGTTAGGGAAGAAGGTGTAACAAAAATGTCCCAGAATTTAAACCAGCAAAAGCCTCACATTAAAGGAATTCTAGGGAATATTTCATGACATTGAAAGCACAAAAGATAAAATGTTAGATGCTGGTTCCAACTTAG... | benign | 86,939 |
Variant on chromosome 4, at position 150828588, affecting LRBA (LPS responsive beige-like anchor protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Combined_immunodeficiency_due_to_LRBA_deficiency'] | GGACAAAAAGAATCCTTTTTCTGGATTGGTTCTATTGATACTTTGTCCCTAAAGTCAGGAAGTACCTTATCAGTAAGAGATTAACTTTTAAAGTTCTTTTACAATTGGACAATGCTCCTGACCACCCAGAGCTTCATGAGTTCAACACTGAGGGTGTTGAAGTGGTCTAACTGCCCTCAAACGCAACTTCTCTAATTCAGCCTCTAGAACAGGAGGTCACAAGGACCTTTATGGTTCATTACACATGGCATTCTTAGGAAACAACTGTCAACACTATGGAAGAGAACCCAACAGAACATCGTGAAAGTCTAGAAGGATTA... | GGACAAAAAGAATCCTTTTTCTGGATTGGTTCTATTGATACTTTGTCCCTAAAGTCAGGAAGTACCTTATCAGTAAGAGATTAACTTTTAAAGTTCTTTTACAATTGGACAATGCTCCTGACCACCCAGAGCTTCATGAGTTCAACACTGAGGGTGTTGAAGTGGTCTAACTGCCCTCAAACGCAACTTCTCTAATTCAGCCTCTAGAACAGGAGGTCACAAGGACCTTTATGGTTCATTACACATGGCATTCTTAGGAAACAACTGTCAACACTATGGAAGAGAACCCAACAGAACATCGTGAAAGTCTAGAAGGATTA... | pathogenic | 86,990 |
Is the variant located on chromosome 4 at position 150850741, gene LRBA (LPS responsive beige-like anchor protein), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Combined_immunodeficiency_due_to_LRBA_deficiency'] | TAACCATATGACAAATTAGCTAACATATATTTTCTCACCAACAGAAGACGGATAATTTTCAATGTCATCTCTGAATTACTGAAAAATTTTTTTTAGTAAATTCCCAACGGTTTTTAGCAGCTCACCTAGTCGGAGACACTGCCGCAAAATTCCTCCAGATGACATACTTTTTTCAGCTTCAATTTCAGTAAAGCCAAGAGAACTTGCAAATATAAGCACATCCACAAGGCTAATTAGCCTCTGCAAAAATGTCACAGAGGCTTCTATTGAAAGGCCTTGAGTAGGTTCAATATTTTCCAGTTCATGCTGTAAAGAATAAA... | TAACCATATGACAAATTAGCTAACATATATTTTCTCACCAACAGAAGACGGATAATTTTCAATGTCATCTCTGAATTACTGAAAAATTTTTTTTAGTAAATTCCCAACGGTTTTTAGCAGCTCACCTAGTCGGAGACACTGCCGCAAAATTCCTCCAGATGACATACTTTTTTCAGCTTCAATTTCAGTAAAGCCAAGAGAACTTGCAAATATAAGCACATCCACAAGGCTAATTAGCCTCTGCAAAAATGTCACAGAGGCTTCTATTGAAAGGCCTTGAGTAGGTTCAATATTTTCCAGTTCATGCTGTAAAGAATAAA... | pathogenic | 86,999 |
Clinically, how would you classify the variant at chromosome 4, position 150900037, gene LRBA (LPS responsive beige-like anchor protein): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Combined_immunodeficiency_due_to_LRBA_deficiency'] | ATGCACTGTATACACAATATTTCAAACATACAAACAGGTTATGTTGAAACTACTATGAAGAAGTTTGTACTTTGAATAGGTCAAAGAATGTCCAAAACATAAAAATGAGGTAACAAATAAAATTTGTATTCAATAATAATATACGTATTTTAAGACTCTGAGAGTATTAGTAAGGTAACAGAAGTTTACAAAGAAAAAAACAAAGGAAAATCTAAACTTTCAACATTATTATTATATGTGAATTCAGTATGACAAAATTTTTCTACTGTTATCATTATATAAGCTAATACAGAAATCTCAAAAAGAATGCCTCACTACAC... | ATGCACTGTATACACAATATTTCAAACATACAAACAGGTTATGTTGAAACTACTATGAAGAAGTTTGTACTTTGAATAGGTCAAAGAATGTCCAAAACATAAAAATGAGGTAACAAATAAAATTTGTATTCAATAATAATATACGTATTTTAAGACTCTGAGAGTATTAGTAAGGTAACAGAAGTTTACAAAGAAAAAAACAAAGGAAAATCTAAACTTTCAACATTATTATTATATGTGAATTCAGTATGACAAAATTTTTCTACTGTTATCATTATATAAGCTAATACAGAAATCTCAAAAAGAATGCCTCACTACAC... | pathogenic | 87,029 |
Variant at chromosome 4, position 150914350, gene LRBA (LPS responsive beige-like anchor protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CCTGAGCTCCACCTCCTGTCAGATCAGATTTTTATAGAAGGGTGAACCCTATTGTGAACTGCACATGCAAGGGATCTAGATTGTGTGCTCCTTATGAGAATATAATACCTGATAATCTGTCACTGTCTCCCATCACCCCCGGATGGAACCGTCTAGTTGCAGAAAACAAGCTCTGCTTTGTTTCCCACTGATTCTACATTATGGTGAGTCGTATAATTATTTCATTATATATTACAATGTAATAATAACAGAAATAAAGTGCACAATAAATGTAATGCACTTGAATCATCCCGAAACCATCCCTGCTGCGCCCCCACCAC... | CCTGAGCTCCACCTCCTGTCAGATCAGATTTTTATAGAAGGGTGAACCCTATTGTGAACTGCACATGCAAGGGATCTAGATTGTGTGCTCCTTATGAGAATATAATACCTGATAATCTGTCACTGTCTCCCATCACCCCCGGATGGAACCGTCTAGTTGCAGAAAACAAGCTCTGCTTTGTTTCCCACTGATTCTACATTATGGTGAGTCGTATAATTATTTCATTATATATTACAATGTAATAATAACAGAAATAAAGTGCACAATAAATGTAATGCACTTGAATCATCCCGAAACCATCCCTGCTGCGCCCCCACCAC... | benign | 87,039 |
Gene LRBA (LPS responsive beige-like anchor protein) variant at chromosome 4, position 150929074—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GCACCACTGGACGTTAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAAGAAAGAAAAAAAAAAAAAAGGCCAGGCGCGGTGGCTCACACCTGTAATCTCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACAAGGTTAGGAGATCGAGACCATCCTGGCTAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGCACTTGGTGGCATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCATGGCACTGCACTCCAGG... | GCACCACTGGACGTTAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAAGAAAGAAAAAAAAAAAAAAGGCCAGGCGCGGTGGCTCACACCTGTAATCTCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACAAGGTTAGGAGATCGAGACCATCCTGGCTAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGCACTTGGTGGCATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCATGGCACTGCACTCCAGG... | benign | 87,042 |
Variant at chromosome position 150929074, chromosome 4, gene LRBA (LPS responsive beige-like anchor protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GCACCACTGGACGTTAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAAGAAAGAAAAAAAAAAAAAAGGCCAGGCGCGGTGGCTCACACCTGTAATCTCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACAAGGTTAGGAGATCGAGACCATCCTGGCTAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGCACTTGGTGGCATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCATGGCACTGCACTCCAGG... | GCACCACTGGACGTTAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAAGAAAGAAAAAAAAAAAAAAGGCCAGGCGCGGTGGCTCACACCTGTAATCTCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACAAGGTTAGGAGATCGAGACCATCCTGGCTAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGCACTTGGTGGCATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCATGGCACTGCACTCCAGG... | benign | 87,043 |
A genetic alteration at chromosome 4, position 151688768, in gene GATB (glutamyl-tRNA amidotransferase subunit B)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CTCTGTGCACGCTTCCCAGTTAAAGGCTAAAGAGCTTCAGGTTCGTTCCCCAGCCACCCTGGCACGCTGCACCCTCCCTGAAAGTTCTCATCTGTCCAACAGCTTCAAGTACAGATGCTGCTGAGTCCATGTTCCACTTACGTTGTGCTGTGTCCCTGGATTCCCCAAACTCTCATGCCCAGACTCACCTCAGATTTCTCCACGTGCTTTTCCCCATGCCTGGAACACTTTTCCCTGTCAGCCTTGGCCTGTCCCTGCTCATCCTCTCCTCAGGTCTTAGCTTAGCTGCTACCTTCTTCCCCTCTCAGAGCACCCCTGTC... | CTCTGTGCACGCTTCCCAGTTAAAGGCTAAAGAGCTTCAGGTTCGTTCCCCAGCCACCCTGGCACGCTGCACCCTCCCTGAAAGTTCTCATCTGTCCAACAGCTTCAAGTACAGATGCTGCTGAGTCCATGTTCCACTTACGTTGTGCTGTGTCCCTGGATTCCCCAAACTCTCATGCCCAGACTCACCTCAGATTTCTCCACGTGCTTTTCCCCATGCCTGGAACACTTTTCCCTGTCAGCCTTGGCCTGTCCCTGCTCATCCTCTCCTCAGGTCTTAGCTTAGCTGCTACCTTCTTCCCCTCTCAGAGCACCCCTGTC... | benign | 87,054 |
The mutation impacting FBXW7 (F-box and WD repeat domain containing 7) on chromosome 4 at position 152323059: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['FBXW7-related_disorder'] | CACCCCAATGCAATCTACAGAGATGAGCACAGTGGAGTGTCCTCCTTCATAGTCTAGGAGAGAAATAAAATTTGCAGTTGCAGCACATTATCCTTACTTTCGCGGTATAAAACAGGCTTGAAGTATTGATTTCTATGTCACACAGCAGGATGCAAAGAAACCAAGATTTTGCTTATTTAAATATTATAGACAAATCCTAAATACTTATAATGAAGGATTATTACTTCAGTGGAAGAAACAGGCATACTAACATGAAAAAACACATTTTATTGCACTTAAGTTATAAGAAAATAAAATTTCTAAGTGAATCAAACCATAGA... | CACCCCAATGCAATCTACAGAGATGAGCACAGTGGAGTGTCCTCCTTCATAGTCTAGGAGAGAAATAAAATTTGCAGTTGCAGCACATTATCCTTACTTTCGCGGTATAAAACAGGCTTGAAGTATTGATTTCTATGTCACACAGCAGGATGCAAAGAAACCAAGATTTTGCTTATTTAAATATTATAGACAAATCCTAAATACTTATAATGAAGGATTATTACTTCAGTGGAAGAAACAGGCATACTAACATGAAAAAACACATTTTATTGCACTTAAGTTATAAGAAAATAAAATTTCTAAGTGAATCAAACCATAGA... | pathogenic | 87,062 |
Does the genetic variant at chromosome 4, position 152411758, impacting gene FBXW7 (F-box and WD repeat domain containing 7), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TAATAAATGCATACACACATCTATACTGTACATGTGTATATACATAAATGCATACACACATCTATACTGTACATGTGTATATACATAAATGCATACACACATGTATTCCTTCTATGGTTAGAGCCCAGTCCATTCTTGTTATATGTACAGGACAATAATTGTTATTCATGATTCAGAATCACTAGAAAAAAACTAACAAATTCAGTATACTTCGTTTTTAAAAAGGTAATCATCATACACAAAATTTTACATCTTGAAGGTAAAGAAAAGATAAAGCACCTGTCAAACTTGTGAACTGGAAGGTTTCCTACAGAATATAA... | TAATAAATGCATACACACATCTATACTGTACATGTGTATATACATAAATGCATACACACATCTATACTGTACATGTGTATATACATAAATGCATACACACATGTATTCCTTCTATGGTTAGAGCCCAGTCCATTCTTGTTATATGTACAGGACAATAATTGTTATTCATGATTCAGAATCACTAGAAAAAAACTAACAAATTCAGTATACTTCGTTTTTAAAAAGGTAATCATCATACACAAAATTTTACATCTTGAAGGTAAAGAAAAGATAAAGCACCTGTCAAACTTGTGAACTGGAAGGTTTCCTACAGAATATAA... | benign | 87,072 |
Determine if the mutation at chromosome 4, position 154569497 in gene FGB (fibrinogen beta chain) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CTAAATATGACTATATATCATAACTGCTTGGTGATAGCTCAGTGTTTAATAGTTTATTCTCAGAAAATCAAAATTGTATAGTTAAATACATTAGTTTTATGAGGCAAAAATGCTAACTATTTCTACATAATTTCATTTTTCCAGATAATGAAAATGTAGTCAATGAGTACTCCTCAGAACTGGAAAAGCACCAATTATATATAGATGAGACTGTGAATAGCAATATCCCAACTAACCTTCGTGTGCTTCGTTCAATCCTGGAAAACCTGAGAAGCAAAATACAAAAGTTAGAATCTGATGTCTCAGCTCAAATGGAATAT... | CTAAATATGACTATATATCATAACTGCTTGGTGATAGCTCAGTGTTTAATAGTTTATTCTCAGAAAATCAAAATTGTATAGTTAAATACATTAGTTTTATGAGGCAAAAATGCTAACTATTTCTACATAATTTCATTTTTCCAGATAATGAAAATGTAGTCAATGAGTACTCCTCAGAACTGGAAAAGCACCAATTATATATAGATGAGACTGTGAATAGCAATATCCCAACTAACCTTCGTGTGCTTCGTTCAATCCTGGAAAACCTGAGAAGCAAAATACAAAAGTTAGAATCTGATGTCTCAGCTCAAATGGAATAT... | benign | 87,136 |
Is the genetic variant on chromosome 4, position 154584089, gene FGA (fibrinogen alpha chain), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GTGAGCAGGAAATGAATTTCTGCCTTGTTGAAGTCAGATGTACCAAACCTAATCCCAAATGATAAAGATGAGTACCAATGTAAATGCAATGAGAAACCCCTACATTTAAGAAGTGGTCAGAGAAGAAATTACCAGTTAAAAACACTGAAAAGAGTAAGACGGGAAGAAATGGTATAGAAACCAAGACAAAAGGACAGGCCCAAGAGGCAGGATAAGGGCAAAATAAGTAGCAGATGTTTAAAAGAGAGAAGTAGAAAGAGGCTTGAATGCAGCACATTTAATTTACAATTGCAAAGTTGTGTTGATTTGAGATCAATTTC... | GTGAGCAGGAAATGAATTTCTGCCTTGTTGAAGTCAGATGTACCAAACCTAATCCCAAATGATAAAGATGAGTACCAATGTAAATGCAATGAGAAACCCCTACATTTAAGAAGTGGTCAGAGAAGAAATTACCAGTTAAAAACACTGAAAAGAGTAAGACGGGAAGAAATGGTATAGAAACCAAGACAAAAGGACAGGCCCAAGAGGCAGGATAAGGGCAAAATAAGTAGCAGATGTTTAAAAGAGAGAAGTAGAAAGAGGCTTGAATGCAGCACATTTAATTTACAATTGCAAAGTTGTGTTGATTTGAGATCAATTTC... | benign | 87,146 |
Chromosome 4, position 154585692, gene FGA (fibrinogen alpha chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Congenital_afibrinogenemia', 'Familial_dysfibrinogenemia', 'Familial_visceral_amyloidosis,_Ostertag_type'] | GCATTGTAATTATAAGTTGTAAATTCTACTACAAAGGTCAGCTATGGTTAGATTCAGTGAGTTTTACCTTAAAATATTGGCTTAAAACAATTCAAATCAAATGGATAAAACAACTTTTTGCTTTCCAATGGCATTATGATTTTGGGTGGTATGGGAAGAGAAGTTCTCAAACCAATAGTCTTCAAGGTTGCAGAGAGAAGCTTCTGTCTGCCACTTTCCTGATGTACTGAATGGCCCTTGGTATATCTTTATAAAAATGTTAAAACCCACAGAGCTATTTAAAGATAAAAAAAACCTTACATAACTTTATTTTTCAAAGA... | GCATTGTAATTATAAGTTGTAAATTCTACTACAAAGGTCAGCTATGGTTAGATTCAGTGAGTTTTACCTTAAAATATTGGCTTAAAACAATTCAAATCAAATGGATAAAACAACTTTTTGCTTTCCAATGGCATTATGATTTTGGGTGGTATGGGAAGAGAAGTTCTCAAACCAATAGTCTTCAAGGTTGCAGAGAGAAGCTTCTGTCTGCCACTTTCCTGATGTACTGAATGGCCCTTGGTATATCTTTATAAAAATGTTAAAACCCACAGAGCTATTTAAAGATAAAAAAAACCTTACATAACTTTATTTTTCAAAGA... | pathogenic | 87,148 |
Clinically, how would you classify the variant at chromosome 4, position 154585775, gene FGA (fibrinogen alpha chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic | AAAACAATTCAAATCAAATGGATAAAACAACTTTTTGCTTTCCAATGGCATTATGATTTTGGGTGGTATGGGAAGAGAAGTTCTCAAACCAATAGTCTTCAAGGTTGCAGAGAGAAGCTTCTGTCTGCCACTTTCCTGATGTACTGAATGGCCCTTGGTATATCTTTATAAAAATGTTAAAACCCACAGAGCTATTTAAAGATAAAAAAAACCTTACATAACTTTATTTTTCAAAGACTAATATGTCTCAGGTACATTTAGCTACAGTACAAAGGATAAGAAAATAGCACCTAGGAATTTTTTAGGTTGTAGAGAATCTC... | AAAACAATTCAAATCAAATGGATAAAACAACTTTTTGCTTTCCAATGGCATTATGATTTTGGGTGGTATGGGAAGAGAAGTTCTCAAACCAATAGTCTTCAAGGTTGCAGAGAGAAGCTTCTGTCTGCCACTTTCCTGATGTACTGAATGGCCCTTGGTATATCTTTATAAAAATGTTAAAACCCACAGAGCTATTTAAAGATAAAAAAAACCTTACATAACTTTATTTTTCAAAGACTAATATGTCTCAGGTACATTTAGCTACAGTACAAAGGATAAGAAAATAGCACCTAGGAATTTTTTAGGTTGTAGAGAATCTC... | pathogenic | 87,150 |
Does the chromosome 4 mutation at position 154585976 within gene FGA (fibrinogen alpha chain) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Congenital_afibrinogenemia', 'Familial_dysfibrinogenemia', 'Familial_visceral_amyloidosis,_Ostertag_type'] | ATAAAAAAAACCTTACATAACTTTATTTTTCAAAGACTAATATGTCTCAGGTACATTTAGCTACAGTACAAAGGATAAGAAAATAGCACCTAGGAATTTTTTAGGTTGTAGAGAATCTCAACTGCTTTACCTTTTGTATTTTCTCTCCACTTCTCTAGCAAAGAAGACAGAGTGCTCCCATTCCCACTTCTTCAGCCTATTGGGTCACAAGGGGCCTAATTTTCATGCGAACAGCCCTGAGGGAATAATCTGCCCCTCTAAAGGAAACCCAGACCACTCCATTCTCAATCTCATAAGGACTGTTATTCCTTGGGTCATAG... | ATAAAAAAAACCTTACATAACTTTATTTTTCAAAGACTAATATGTCTCAGGTACATTTAGCTACAGTACAAAGGATAAGAAAATAGCACCTAGGAATTTTTTAGGTTGTAGAGAATCTCAACTGCTTTACCTTTTGTATTTTCTCTCCACTTCTCTAGCAAAGAAGACAGAGTGCTCCCATTCCCACTTCTTCAGCCTATTGGGTCACAAGGGGCCTAATTTTCATGCGAACAGCCCTGAGGGAATAATCTGCCCCTCTAAAGGAAACCCAGACCACTCCATTCTCAATCTCATAAGGACTGTTATTCCTTGGGTCATAG... | pathogenic | 87,154 |
Evaluate the clinical significance of the mutation at chromosome 4, position 154586373 in gene FGA (fibrinogen alpha chain): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Afibrinogenemia', 'Congenital_afibrinogenemia', 'Familial_dysfibrinogenemia', 'Familial_visceral_amyloidosis,_Ostertag_type'] | TGCACAGTTCTCTTCCCACTGGTCTGCATCCCTGTCAAAGGTGCTGAACTGCATGTTGTTGTGAGAGGTGTACTCTGCCCCTTCCTCTACGGAACCCTCAATCAGAGCATCACCCGCAGTGCCTTCATAGGAGGAGACTTGGAGGGCATAGCCTTCAGCCTCAGAGCCTACCCGGAAGTGATATTCTGCATAAGCTTCATTCCCAGCCCAGTCCTCTAATTCAACCCTAAGAACAGAGCCCCTTTGGGTTAGTAAGTGGAGGTAGTCATTGCCTAGCCAGAATTCTCCTTCCCCCTCGTCATTCAGGCTGCCGAAACCTC... | TGCACAGTTCTCTTCCCACTGGTCTGCATCCCTGTCAAAGGTGCTGAACTGCATGTTGTTGTGAGAGGTGTACTCTGCCCCTTCCTCTACGGAACCCTCAATCAGAGCATCACCCGCAGTGCCTTCATAGGAGGAGACTTGGAGGGCATAGCCTTCAGCCTCAGAGCCTACCCGGAAGTGATATTCTGCATAAGCTTCATTCCCAGCCCAGTCCTCTAATTCAACCCTAAGAACAGAGCCCCTTTGGGTTAGTAAGTGGAGGTAGTCATTGCCTAGCCAGAATTCTCCTTCCCCCTCGTCATTCAGGCTGCCGAAACCTC... | pathogenic | 87,157 |
Assess the variant on chromosome 4, position 154586715, impacting FGA (fibrinogen alpha chain): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Congenital_afibrinogenemia', 'Familial_visceral_amyloidosis,_Ostertag_type'] | GTTAAAATTCAGTGATCCATCCATTCTTTGCTGGATCAAAAGCCATCCTCCCAAACTGGTCTCTTGATCGCAATAAACAGAAAAAATCTTACTGGATCCCGGTAGCTTGATATTGAAAATGCCACTTTGGGTACCTGAAGGATGTGTTTGGAGGACATCATCACAGTCTAAAAAAAAAATTAAGCTGGTTGGAAGAAGTTATTCTCATTTAACTTTACAAAGATAGGCACGGCTCAGATTAAATAAGGCAAATACTGTTTCTTTCCCTTCCTTTCTTTCTTCCTCCTTTCCTTCCCTCCATAGGGAAAGGATGCACTTAC... | GTTAAAATTCAGTGATCCATCCATTCTTTGCTGGATCAAAAGCCATCCTCCCAAACTGGTCTCTTGATCGCAATAAACAGAAAAAATCTTACTGGATCCCGGTAGCTTGATATTGAAAATGCCACTTTGGGTACCTGAAGGATGTGTTTGGAGGACATCATCACAGTCTAAAAAAAAAATTAAGCTGGTTGGAAGAAGTTATTCTCATTTAACTTTACAAAGATAGGCACGGCTCAGATTAAATAAGGCAAATACTGTTTCTTTCCCTTCCTTTCTTTCTTCCTCCTTTCCTTCCCTCCATAGGGAAAGGATGCACTTAC... | pathogenic | 87,161 |
Evaluate if the mutation on chromosome 4 at position 154589499 in FGA (fibrinogen alpha chain) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Congenital_afibrinogenemia', 'FGA-related_disorder', 'Familial_dysfibrinogenemia', 'Familial_visceral_amyloidosis,_Ostertag_type', 'Hypofibrinogenemia'] | TCGCCTTCCTTTTCCCTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAA... | TCGCCTTCCTTTTCCCTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAA... | pathogenic | 87,171 |
Regarding the variant found on chromosome 4 at position 154744334 in gene LRAT (lecithin retinol acyltransferase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Retinal_dystrophy'] | TCGTTTGTGGGAGTTTTCTCCTCTTTGCTGGGACTATAATGTGATGCGCAATCGTTTGTGAATGAACAAAAGTCACCGGCAAGCAGGGAGACGGGGACAGATCGCTGACGGCAGATTGAGGGTGGCAGCAAAGGCCCGGCCTCCAAGGATAATGGGGAGCCGTTTTCCCTCACGCCTGGTCTCTATGGCCCCCTTCGTCTTCCAGGTAAAATGAATGTTCCTTCATCCATCATCCGCAGAGTACCCTCAGGCGTGCGTAGAATCTGCTGATGAAACCTATTAGCGCCGACTGGGCAGCTTTGTGGAGCCACCCGAGGCTC... | TCGTTTGTGGGAGTTTTCTCCTCTTTGCTGGGACTATAATGTGATGCGCAATCGTTTGTGAATGAACAAAAGTCACCGGCAAGCAGGGAGACGGGGACAGATCGCTGACGGCAGATTGAGGGTGGCAGCAAAGGCCCGGCCTCCAAGGATAATGGGGAGCCGTTTTCCCTCACGCCTGGTCTCTATGGCCCCCTTCGTCTTCCAGGTAAAATGAATGTTCCTTCATCCATCATCCGCAGAGTACCCTCAGGCGTGCGTAGAATCTGCTGATGAAACCTATTAGCGCCGACTGGGCAGCTTTGTGGAGCCACCCGAGGCTC... | pathogenic | 87,188 |
For chromosome 4, position 154744542, gene LRAT (lecithin retinol acyltransferase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['LRAT-related_disorder', 'Leber_congenital_amaurosis_14', 'RETINITIS_PIGMENTOSA,_JUVENILE,_LRAT-RELATED'] | AAATGAATGTTCCTTCATCCATCATCCGCAGAGTACCCTCAGGCGTGCGTAGAATCTGCTGATGAAACCTATTAGCGCCGACTGGGCAGCTTTGTGGAGCCACCCGAGGCTCTCCATTGTGGCCTTTGTCTGCAGAATTTAAGCATTTACATAATGCATTAGCACGGAACTCAGCACCCGGTGGGGACATCGCGTGCCAAGCCTGGCGCGGCCAACGCTTCAGCGGCTCCCTCACCCGGCAGCTCCCTAGGACCACCCTCGAGGAGGCATTGGAGTCGGGCTGCAGGCGCACGGGCAAAGAACTTAGCATCTCATCCAAG... | AAATGAATGTTCCTTCATCCATCATCCGCAGAGTACCCTCAGGCGTGCGTAGAATCTGCTGATGAAACCTATTAGCGCCGACTGGGCAGCTTTGTGGAGCCACCCGAGGCTCTCCATTGTGGCCTTTGTCTGCAGAATTTAAGCATTTACATAATGCATTAGCACGGAACTCAGCACCCGGTGGGGACATCGCGTGCCAAGCCTGGCGCGGCCAACGCTTCAGCGGCTCCCTCACCCGGCAGCTCCCTAGGACCACCCTCGAGGAGGCATTGGAGTCGGGCTGCAGGCGCACGGGCAAAGAACTTAGCATCTCATCCAAG... | pathogenic | 87,192 |
Variant chromosome 4, position 154744780, gene LRAT (lecithin retinol acyltransferase): benign or pathogenic? Disease(s)? | pathogenic; ['Retinal_dystrophy'] | GCAGCTCCCTAGGACCACCCTCGAGGAGGCATTGGAGTCGGGCTGCAGGCGCACGGGCAAAGAACTTAGCATCTCATCCAAGTACTTCGCCTTCCTTGGCCGTCTCCGGGAGGTTATGCTTAAAAACATAAAAATAAAAATAAAAATAAAAATAAAGGGAGGCGGACAAAGTTTCGGTGGGTGAACTGAAGCTGGGTCCATGTGACCCTGAAGCCGGAGAAATAAACTTAACATGAATCTTGCTTTCCTGGCGGGCGTTGGGACCCCGCCGTTTTTCATGCCAACCGTTGGAAGCTTCGTACTCAACGGCCACAGGTGCC... | GCAGCTCCCTAGGACCACCCTCGAGGAGGCATTGGAGTCGGGCTGCAGGCGCACGGGCAAAGAACTTAGCATCTCATCCAAGTACTTCGCCTTCCTTGGCCGTCTCCGGGAGGTTATGCTTAAAAACATAAAAATAAAAATAAAAATAAAAATAAAGGGAGGCGGACAAAGTTTCGGTGGGTGAACTGAAGCTGGGTCCATGTGACCCTGAAGCCGGAGAAATAAACTTAACATGAATCTTGCTTTCCTGGCGGGCGTTGGGACCCCGCCGTTTTTCATGCCAACCGTTGGAAGCTTCGTACTCAACGGCCACAGGTGCC... | pathogenic | 87,194 |
Clinical classification of chromosome 4, position 158680482, gene ETFDH (electron transfer flavoprotein dehydrogenase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['ETFDH-related_disorder', 'Multiple_acyl-CoA_dehydrogenase_deficiency'] | TTTCACCACATCATATCAGGGATACATGGTATCAATATGTCTTATTGCTGGTAACATTAAACTTGATCACTTGCTTAAAGTGATATCTGCCATATTTCTCTACTGTAAAGTTAACATTTTTCACTTTCCATTCTCTACTTGTTAGAAGCTACTCAATAAGTTCATCCCACATCACTCAAAGGGAGGAGAGAATTGAAGAATTTATGGATATATCACCATCTTTTTTTTTTTTTTTTGAGACAAGGTGCTTGTTGCCCAGGTTGGAGTACAGTGACGTGGTCCTAGCTCACTGTAGCCTCGAATTACTGGGCTCTAGTGAT... | TTTCACCACATCATATCAGGGATACATGGTATCAATATGTCTTATTGCTGGTAACATTAAACTTGATCACTTGCTTAAAGTGATATCTGCCATATTTCTCTACTGTAAAGTTAACATTTTTCACTTTCCATTCTCTACTTGTTAGAAGCTACTCAATAAGTTCATCCCACATCACTCAAAGGGAGGAGAGAATTGAAGAATTTATGGATATATCACCATCTTTTTTTTTTTTTTTTGAGACAAGGTGCTTGTTGCCCAGGTTGGAGTACAGTGACGTGGTCCTAGCTCACTGTAGCCTCGAATTACTGGGCTCTAGTGAT... | pathogenic | 87,274 |
Is the chromosome 4, position 158680486 variant in ETFDH (electron transfer flavoprotein dehydrogenase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | ACCACATCATATCAGGGATACATGGTATCAATATGTCTTATTGCTGGTAACATTAAACTTGATCACTTGCTTAAAGTGATATCTGCCATATTTCTCTACTGTAAAGTTAACATTTTTCACTTTCCATTCTCTACTTGTTAGAAGCTACTCAATAAGTTCATCCCACATCACTCAAAGGGAGGAGAGAATTGAAGAATTTATGGATATATCACCATCTTTTTTTTTTTTTTTTGAGACAAGGTGCTTGTTGCCCAGGTTGGAGTACAGTGACGTGGTCCTAGCTCACTGTAGCCTCGAATTACTGGGCTCTAGTGATCATC... | ACCACATCATATCAGGGATACATGGTATCAATATGTCTTATTGCTGGTAACATTAAACTTGATCACTTGCTTAAAGTGATATCTGCCATATTTCTCTACTGTAAAGTTAACATTTTTCACTTTCCATTCTCTACTTGTTAGAAGCTACTCAATAAGTTCATCCCACATCACTCAAAGGGAGGAGAGAATTGAAGAATTTATGGATATATCACCATCTTTTTTTTTTTTTTTTGAGACAAGGTGCTTGTTGCCCAGGTTGGAGTACAGTGACGTGGTCCTAGCTCACTGTAGCCTCGAATTACTGGGCTCTAGTGATCATC... | pathogenic | 87,275 |
Variant at chromosome position 158680594, chromosome 4, gene ETFDH (electron transfer flavoprotein dehydrogenase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | AACATTTTTCACTTTCCATTCTCTACTTGTTAGAAGCTACTCAATAAGTTCATCCCACATCACTCAAAGGGAGGAGAGAATTGAAGAATTTATGGATATATCACCATCTTTTTTTTTTTTTTTTGAGACAAGGTGCTTGTTGCCCAGGTTGGAGTACAGTGACGTGGTCCTAGCTCACTGTAGCCTCGAATTACTGGGCTCTAGTGATCATCGTACCTCAGCCTCCTGAGTAGGTGGGACTGCAGGTGCATACCACCACACCTAGCTAATTTTTTTACTTTTTATTTTTTATTTCTGTAGAGAAGAGGTCTTGCTATATT... | AACATTTTTCACTTTCCATTCTCTACTTGTTAGAAGCTACTCAATAAGTTCATCCCACATCACTCAAAGGGAGGAGAGAATTGAAGAATTTATGGATATATCACCATCTTTTTTTTTTTTTTTTGAGACAAGGTGCTTGTTGCCCAGGTTGGAGTACAGTGACGTGGTCCTAGCTCACTGTAGCCTCGAATTACTGGGCTCTAGTGATCATCGTACCTCAGCCTCCTGAGTAGGTGGGACTGCAGGTGCATACCACCACACCTAGCTAATTTTTTTACTTTTTATTTTTTATTTCTGTAGAGAAGAGGTCTTGCTATATT... | pathogenic | 87,279 |
Benign or pathogenic: chromosome 4, position 158680606, gene ETFDH (electron transfer flavoprotein dehydrogenase) variant? Disease(s) if pathogenic? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | TTTCCATTCTCTACTTGTTAGAAGCTACTCAATAAGTTCATCCCACATCACTCAAAGGGAGGAGAGAATTGAAGAATTTATGGATATATCACCATCTTTTTTTTTTTTTTTTGAGACAAGGTGCTTGTTGCCCAGGTTGGAGTACAGTGACGTGGTCCTAGCTCACTGTAGCCTCGAATTACTGGGCTCTAGTGATCATCGTACCTCAGCCTCCTGAGTAGGTGGGACTGCAGGTGCATACCACCACACCTAGCTAATTTTTTTACTTTTTATTTTTTATTTCTGTAGAGAAGAGGTCTTGCTATATTGCCTAGGAGGAT... | TTTCCATTCTCTACTTGTTAGAAGCTACTCAATAAGTTCATCCCACATCACTCAAAGGGAGGAGAGAATTGAAGAATTTATGGATATATCACCATCTTTTTTTTTTTTTTTTGAGACAAGGTGCTTGTTGCCCAGGTTGGAGTACAGTGACGTGGTCCTAGCTCACTGTAGCCTCGAATTACTGGGCTCTAGTGATCATCGTACCTCAGCCTCCTGAGTAGGTGGGACTGCAGGTGCATACCACCACACCTAGCTAATTTTTTTACTTTTTATTTTTTATTTCTGTAGAGAAGAGGTCTTGCTATATTGCCTAGGAGGAT... | pathogenic | 87,280 |
Benign or pathogenic: chromosome 4, position 158682282, gene ETFDH (electron transfer flavoprotein dehydrogenase) variant? Disease(s) if pathogenic? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | TCCATAGTTAAGCCTGACATGAGCTAAATTGAATAAATTTGCTTATTAGTTTTAAAATATTTAAGATTTGAAAACATTGCTTTATGAGAAAAAGCTATTCAAAGTGTTCACCTAGGAAAGATTATAGTATATTTCACTATACTCATTGAGTATAGTCATTCACTTATATTTTTTCAGTCTACTGAGGAAAACTAATTTTAAGGAAGATAATAATTTTCGTAATTTTTGTGCAGCATATCAGTGCTTTCATGCCTTAAAAATTAAGAAAAATTATCTACCTCTATGTGCTACAAGATGGTCTTCAACTTCTACTGTGCCTC... | TCCATAGTTAAGCCTGACATGAGCTAAATTGAATAAATTTGCTTATTAGTTTTAAAATATTTAAGATTTGAAAACATTGCTTTATGAGAAAAAGCTATTCAAAGTGTTCACCTAGGAAAGATTATAGTATATTTCACTATACTCATTGAGTATAGTCATTCACTTATATTTTTTCAGTCTACTGAGGAAAACTAATTTTAAGGAAGATAATAATTTTCGTAATTTTTGTGCAGCATATCAGTGCTTTCATGCCTTAAAAATTAAGAAAAATTATCTACCTCTATGTGCTACAAGATGGTCTTCAACTTCTACTGTGCCTC... | pathogenic | 87,288 |
Evaluate the clinical significance of the mutation at chromosome 4, position 158682314 in gene ETFDH (electron transfer flavoprotein dehydrogenase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['ETFDH-related_disorder', 'Multiple_acyl-CoA_dehydrogenase_deficiency'] | ATAAATTTGCTTATTAGTTTTAAAATATTTAAGATTTGAAAACATTGCTTTATGAGAAAAAGCTATTCAAAGTGTTCACCTAGGAAAGATTATAGTATATTTCACTATACTCATTGAGTATAGTCATTCACTTATATTTTTTCAGTCTACTGAGGAAAACTAATTTTAAGGAAGATAATAATTTTCGTAATTTTTGTGCAGCATATCAGTGCTTTCATGCCTTAAAAATTAAGAAAAATTATCTACCTCTATGTGCTACAAGATGGTCTTCAACTTCTACTGTGCCTCGAATTACTACCCATTATACTATTTATCCCCGG... | ATAAATTTGCTTATTAGTTTTAAAATATTTAAGATTTGAAAACATTGCTTTATGAGAAAAAGCTATTCAAAGTGTTCACCTAGGAAAGATTATAGTATATTTCACTATACTCATTGAGTATAGTCATTCACTTATATTTTTTCAGTCTACTGAGGAAAACTAATTTTAAGGAAGATAATAATTTTCGTAATTTTTGTGCAGCATATCAGTGCTTTCATGCCTTAAAAATTAAGAAAAATTATCTACCTCTATGTGCTACAAGATGGTCTTCAACTTCTACTGTGCCTCGAATTACTACCCATTATACTATTTATCCCCGG... | pathogenic | 87,290 |
The chromosome 4, position 158682413 genetic variant in gene ETFDH (electron transfer flavoprotein dehydrogenase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | TTTCACTATACTCATTGAGTATAGTCATTCACTTATATTTTTTCAGTCTACTGAGGAAAACTAATTTTAAGGAAGATAATAATTTTCGTAATTTTTGTGCAGCATATCAGTGCTTTCATGCCTTAAAAATTAAGAAAAATTATCTACCTCTATGTGCTACAAGATGGTCTTCAACTTCTACTGTGCCTCGAATTACTACCCATTATACTATTTATCCCCGGGATAAGGACAAGAGATGGGAAGGTAAGTAATAATTTGTGTACAATTCCTGAGACTTTTCTGGATACTTTGTTTTCATTTTGTGGAGGAGAGTATTAATA... | TTTCACTATACTCATTGAGTATAGTCATTCACTTATATTTTTTCAGTCTACTGAGGAAAACTAATTTTAAGGAAGATAATAATTTTCGTAATTTTTGTGCAGCATATCAGTGCTTTCATGCCTTAAAAATTAAGAAAAATTATCTACCTCTATGTGCTACAAGATGGTCTTCAACTTCTACTGTGCCTCGAATTACTACCCATTATACTATTTATCCCCGGGATAAGGACAAGAGATGGGAAGGTAAGTAATAATTTGTGTACAATTCCTGAGACTTTTCTGGATACTTTGTTTTCATTTTGTGGAGGAGAGTATTAATA... | pathogenic | 87,297 |
Is the chromosome 4, position 158684612 variant in ETFDH (electron transfer flavoprotein dehydrogenase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | ACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGTCTCCCTAGTAGCTGGGTTTACAAGCACCTGCCAACACTCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTATTGGCCAGACTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCACCTTGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCACGCCCAGCCCATGTAACTCTAAGGGAATAATTATATACTTTTTAAATTAAAAAAAAAT... | ACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGTCTCCCTAGTAGCTGGGTTTACAAGCACCTGCCAACACTCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTATTGGCCAGACTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCACCTTGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCACGCCCAGCCCATGTAACTCTAAGGGAATAATTATATACTTTTTAAATTAAAAAAAAAT... | pathogenic | 87,301 |
Is the genetic variant on chromosome 4, position 158684671, gene ETFDH (electron transfer flavoprotein dehydrogenase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Inborn_genetic_diseases', 'Multiple_acyl-CoA_dehydrogenase_deficiency'] | TCCCAGGTTCAAGTGATTCTCCTGCCTCAGTCTCCCTAGTAGCTGGGTTTACAAGCACCTGCCAACACTCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTATTGGCCAGACTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCACCTTGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCACGCCCAGCCCATGTAACTCTAAGGGAATAATTATATACTTTTTAAATTAAAAAAAAATTTATATCAGAATTGTAATTTATGATATTAACAAATATTTTTGTGTAATGCTTTCTACAT... | TCCCAGGTTCAAGTGATTCTCCTGCCTCAGTCTCCCTAGTAGCTGGGTTTACAAGCACCTGCCAACACTCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTATTGGCCAGACTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCACCTTGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCACGCCCAGCCCATGTAACTCTAAGGGAATAATTATATACTTTTTAAATTAAAAAAAAATTTATATCAGAATTGTAATTTATGATATTAACAAATATTTTTGTGTAATGCTTTCTACAT... | pathogenic | 87,306 |
Is the variant located on chromosome 4 at position 158685193, gene ETFDH (electron transfer flavoprotein dehydrogenase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | ATGGCTTCCCATAACCTAAGCAGAAAAACCACAGGTGTGATATACAGAGGACCAAGTCCAAGTTTTATTGTCTTAAATAAAATTTGTATGAATTTGGTTAAAATCTTAGATTGTCAATTTTTTCTTCTCTAAGATGGGTTATATTATACCTGTCCTACCTCCTAGATTAGATTATTCAGTGGTTGTGAATATACTTGCAAAGATCAAAAATTATATAAATATCTGTATTTTTTCCATATGGAATAAATTGAATTCCAAAAATTTCGTCTGTCTCTCCTTTCTGAAATATCAAGCTCCCTTAAACTAGAAATACTTTAATT... | ATGGCTTCCCATAACCTAAGCAGAAAAACCACAGGTGTGATATACAGAGGACCAAGTCCAAGTTTTATTGTCTTAAATAAAATTTGTATGAATTTGGTTAAAATCTTAGATTGTCAATTTTTTCTTCTCTAAGATGGGTTATATTATACCTGTCCTACCTCCTAGATTAGATTATTCAGTGGTTGTGAATATACTTGCAAAGATCAAAAATTATATAAATATCTGTATTTTTTCCATATGGAATAAATTGAATTCCAAAAATTTCGTCTGTCTCTCCTTTCTGAAATATCAAGCTCCCTTAAACTAGAAATACTTTAATT... | pathogenic | 87,311 |
Variant at chromosome position 158685220, chromosome 4, gene ETFDH (electron transfer flavoprotein dehydrogenase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | ACCACAGGTGTGATATACAGAGGACCAAGTCCAAGTTTTATTGTCTTAAATAAAATTTGTATGAATTTGGTTAAAATCTTAGATTGTCAATTTTTTCTTCTCTAAGATGGGTTATATTATACCTGTCCTACCTCCTAGATTAGATTATTCAGTGGTTGTGAATATACTTGCAAAGATCAAAAATTATATAAATATCTGTATTTTTTCCATATGGAATAAATTGAATTCCAAAAATTTCGTCTGTCTCTCCTTTCTGAAATATCAAGCTCCCTTAAACTAGAAATACTTTAATTAGGCCCAGTTGAATTTATCCTTTTGAT... | ACCACAGGTGTGATATACAGAGGACCAAGTCCAAGTTTTATTGTCTTAAATAAAATTTGTATGAATTTGGTTAAAATCTTAGATTGTCAATTTTTTCTTCTCTAAGATGGGTTATATTATACCTGTCCTACCTCCTAGATTAGATTATTCAGTGGTTGTGAATATACTTGCAAAGATCAAAAATTATATAAATATCTGTATTTTTTCCATATGGAATAAATTGAATTCCAAAAATTTCGTCTGTCTCTCCTTTCTGAAATATCAAGCTCCCTTAAACTAGAAATACTTTAATTAGGCCCAGTTGAATTTATCCTTTTGAT... | pathogenic | 87,312 |
Does the variant on chromosome 4 at location 158685228 affecting gene ETFDH (electron transfer flavoprotein dehydrogenase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TGTGATATACAGAGGACCAAGTCCAAGTTTTATTGTCTTAAATAAAATTTGTATGAATTTGGTTAAAATCTTAGATTGTCAATTTTTTCTTCTCTAAGATGGGTTATATTATACCTGTCCTACCTCCTAGATTAGATTATTCAGTGGTTGTGAATATACTTGCAAAGATCAAAAATTATATAAATATCTGTATTTTTTCCATATGGAATAAATTGAATTCCAAAAATTTCGTCTGTCTCTCCTTTCTGAAATATCAAGCTCCCTTAAACTAGAAATACTTTAATTAGGCCCAGTTGAATTTATCCTTTTGATATTATATC... | TGTGATATACAGAGGACCAAGTCCAAGTTTTATTGTCTTAAATAAAATTTGTATGAATTTGGTTAAAATCTTAGATTGTCAATTTTTTCTTCTCTAAGATGGGTTATATTATACCTGTCCTACCTCCTAGATTAGATTATTCAGTGGTTGTGAATATACTTGCAAAGATCAAAAATTATATAAATATCTGTATTTTTTCCATATGGAATAAATTGAATTCCAAAAATTTCGTCTGTCTCTCCTTTCTGAAATATCAAGCTCCCTTAAACTAGAAATACTTTAATTAGGCCCAGTTGAATTTATCCTTTTGATATTATATC... | benign | 87,313 |
Clinical significance of chromosome 4, position 158690330, gene ETFDH (electron transfer flavoprotein dehydrogenase): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGCAACTGCACTCCAGCCTGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATGGGGAAACCCTGTCTCTACTAAAAGTACAAAAGATTAGCTGGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGTCGTGAACCCGGGA... | CTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGCAACTGCACTCCAGCCTGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATGGGGAAACCCTGTCTCTACTAAAAGTACAAAAGATTAGCTGGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGTCGTGAACCCGGGA... | benign | 87,315 |
A genetic variant on chromosome 4, position 158697698, affects the gene ETFDH (electron transfer flavoprotein dehydrogenase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | TGGTTTGTTTCTGTAATTTTAATTTTGAAAGATGGAATTTAAATTTATTTGTATTATCAGGTAGTTTATAATACTGATTTAATTTTAGTTATATTTTTTCATTGTCTTGAAATGTTCATTATGACTAAAACTTATTTGCGATATTTTTCAAGGGGCTAGAAGATATTACTGATCAAATTATATTACTGGTTAAGTTAGTTTTACATGTTGGAATTGTCGTATCAAGTGTTGCTTGAAGTGAATCTTGAACTTGTGAATATTTGAATCTTTTTTATTTTCATTGTAATGCCATCTGCCCTGTTAGGATTGTTCTTGTTATC... | TGGTTTGTTTCTGTAATTTTAATTTTGAAAGATGGAATTTAAATTTATTTGTATTATCAGGTAGTTTATAATACTGATTTAATTTTAGTTATATTTTTTCATTGTCTTGAAATGTTCATTATGACTAAAACTTATTTGCGATATTTTTCAAGGGGCTAGAAGATATTACTGATCAAATTATATTACTGGTTAAGTTAGTTTTACATGTTGGAATTGTCGTATCAAGTGTTGCTTGAAGTGAATCTTGAACTTGTGAATATTTGAATCTTTTTTATTTTCATTGTAATGCCATCTGCCCTGTTAGGATTGTTCTTGTTATC... | pathogenic | 87,334 |
Variant at chromosome 4, position 158699022, gene ETFDH (electron transfer flavoprotein dehydrogenase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | CTATTTAATGTCTTAAAGAGTTCATAAGTTTTCTGACCTGTTTCTTTAATCTGACTCATGCTGCAGTTTGATATAATTTTCTTTGTTATTCAAGGTGATCCACCTGTATTCTTTTTTATTATTTTTTTATTTTTTTTTTGAGACTGAGTCATGCTCTCTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGGGTTCAAGCAATTCTCACGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCGCCACCATGCCTAGCTAATTTTTGTAGTTTTAGTAGAGACAGGGTTTTAC... | CTATTTAATGTCTTAAAGAGTTCATAAGTTTTCTGACCTGTTTCTTTAATCTGACTCATGCTGCAGTTTGATATAATTTTCTTTGTTATTCAAGGTGATCCACCTGTATTCTTTTTTATTATTTTTTTATTTTTTTTTTGAGACTGAGTCATGCTCTCTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGGGTTCAAGCAATTCTCACGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCGCCACCATGCCTAGCTAATTTTTGTAGTTTTAGTAGAGACAGGGTTTTAC... | pathogenic | 87,337 |
The chromosome 4, position 158703438 genetic variant in gene ETFDH (electron transfer flavoprotein dehydrogenase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | TCTGTGGTCCTGATTTAATGCTCTTTTATCTAAGTGGTCCTAATCCTGAGTTTGGTCTGAGAACCACAGTCATAAATTCATTCCCCACATATACTGTGAAAGGACCTGGGCCCTGATCCTTCTCTCTTACCAGCATTCCTTCTGCCCCCTAGTTTTGCTTTTCACCACTATTCCCTCACAGAATTGTATCACTGATGAGAGCTGTGGCGACAGAGTGCTCACCATGTCTCTTTTGCAGTTGGTGTCAATAGTTTTCTTGTTAGCTCCCTCCTCTGAGTCCCTCTTAATACCATCAGCCAAATGTACCACTCACCATTTTC... | TCTGTGGTCCTGATTTAATGCTCTTTTATCTAAGTGGTCCTAATCCTGAGTTTGGTCTGAGAACCACAGTCATAAATTCATTCCCCACATATACTGTGAAAGGACCTGGGCCCTGATCCTTCTCTCTTACCAGCATTCCTTCTGCCCCCTAGTTTTGCTTTTCACCACTATTCCCTCACAGAATTGTATCACTGATGAGAGCTGTGGCGACAGAGTGCTCACCATGTCTCTTTTGCAGTTGGTGTCAATAGTTTTCTTGTTAGCTCCCTCCTCTGAGTCCCTCTTAATACCATCAGCCAAATGTACCACTCACCATTTTC... | pathogenic | 87,349 |
Does the variant on chromosome 4 at location 158703438 affecting gene ETFDH (electron transfer flavoprotein dehydrogenase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | TCTGTGGTCCTGATTTAATGCTCTTTTATCTAAGTGGTCCTAATCCTGAGTTTGGTCTGAGAACCACAGTCATAAATTCATTCCCCACATATACTGTGAAAGGACCTGGGCCCTGATCCTTCTCTCTTACCAGCATTCCTTCTGCCCCCTAGTTTTGCTTTTCACCACTATTCCCTCACAGAATTGTATCACTGATGAGAGCTGTGGCGACAGAGTGCTCACCATGTCTCTTTTGCAGTTGGTGTCAATAGTTTTCTTGTTAGCTCCCTCCTCTGAGTCCCTCTTAATACCATCAGCCAAATGTACCACTCACCATTTTC... | TCTGTGGTCCTGATTTAATGCTCTTTTATCTAAGTGGTCCTAATCCTGAGTTTGGTCTGAGAACCACAGTCATAAATTCATTCCCCACATATACTGTGAAAGGACCTGGGCCCTGATCCTTCTCTCTTACCAGCATTCCTTCTGCCCCCTAGTTTTGCTTTTCACCACTATTCCCTCACAGAATTGTATCACTGATGAGAGCTGTGGCGACAGAGTGCTCACCATGTCTCTTTTGCAGTTGGTGTCAATAGTTTTCTTGTTAGCTCCCTCCTCTGAGTCCCTCTTAATACCATCAGCCAAATGTACCACTCACCATTTTC... | pathogenic | 87,350 |
Variant in ETFDH (electron transfer flavoprotein dehydrogenase), chromosome 4, position 158703555—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | CCTTCTCTCTTACCAGCATTCCTTCTGCCCCCTAGTTTTGCTTTTCACCACTATTCCCTCACAGAATTGTATCACTGATGAGAGCTGTGGCGACAGAGTGCTCACCATGTCTCTTTTGCAGTTGGTGTCAATAGTTTTCTTGTTAGCTCCCTCCTCTGAGTCCCTCTTAATACCATCAGCCAAATGTACCACTCACCATTTTCTCAACAAAGACCCCATGGCTTACTTTAGGAAATCCTCAGAGAAGAAAAAAATACAGAATGTGGAAAGAACAACGCTGCTTGGCTCTCTTCTTTTCAAACTATAAGAGTACATTTTCC... | CCTTCTCTCTTACCAGCATTCCTTCTGCCCCCTAGTTTTGCTTTTCACCACTATTCCCTCACAGAATTGTATCACTGATGAGAGCTGTGGCGACAGAGTGCTCACCATGTCTCTTTTGCAGTTGGTGTCAATAGTTTTCTTGTTAGCTCCCTCCTCTGAGTCCCTCTTAATACCATCAGCCAAATGTACCACTCACCATTTTCTCAACAAAGACCCCATGGCTTACTTTAGGAAATCCTCAGAGAAGAAAAAAATACAGAATGTGGAAAGAACAACGCTGCTTGGCTCTCTTCTTTTCAAACTATAAGAGTACATTTTCC... | pathogenic | 87,354 |
Chromosome 4, position 158706334, gene ETFDH (electron transfer flavoprotein dehydrogenase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | TTTGTAAGTATAGGCCTATGACTCTTCTGCTGTGGTGGAGAGAAACAGCCAGCACTTATACCTCCGTAAAGCTTTAATCTAAAAAGACCCTTTACCAACTCCAGCCACACTGGCTTCTTTACAGTTCCCAGAACATGCCAAGCACTCCCACCTCATGGTCTTTGCTCACGGCTGGCTCCTTTGTTCTCTTTCCCTTTGTTTAAATAGCACTCACAGTGGCCCTGCCTTGACCACACCAATTAATGCACAACACACAGCACACACCCAGTTCCCCCTGCATGGCCTTTTCTAGCGCATTTTCCACCTTTTGGTACATTATA... | TTTGTAAGTATAGGCCTATGACTCTTCTGCTGTGGTGGAGAGAAACAGCCAGCACTTATACCTCCGTAAAGCTTTAATCTAAAAAGACCCTTTACCAACTCCAGCCACACTGGCTTCTTTACAGTTCCCAGAACATGCCAAGCACTCCCACCTCATGGTCTTTGCTCACGGCTGGCTCCTTTGTTCTCTTTCCCTTTGTTTAAATAGCACTCACAGTGGCCCTGCCTTGACCACACCAATTAATGCACAACACACAGCACACACCCAGTTCCCCCTGCATGGCCTTTTCTAGCGCATTTTCCACCTTTTGGTACATTATA... | pathogenic | 87,364 |
A genetic variant at chromosome 4, position 158706714, affecting gene ETFDH (electron transfer flavoprotein dehydrogenase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | GGTATTGCTTAGTGTGAATCCTACATACCTGGCACACGGTAGCGACTCCATAGATATTTGATAAATGAGTCTTAATTCTTAGAATCCCCAGTAAATGTTCCTCTAGTTAGAGGTATGTAACCAGGTTATGCCTTCAAATCTTTGTAGGAATGGAGGCCTAGCGTGGGGAGATGAAGTGGAAAACAGAAAGGGCAAAGGGTACTACTTCAGGGAGAATGGAATAGCCAAGATGGAGTGCAGTGGCTGGGTAGAAGTTTTTTTCTAATTTTCTTGTCAAGTATCGTTCCTTGTTGGACCACCAGCCATACTTGAACTGTATC... | GGTATTGCTTAGTGTGAATCCTACATACCTGGCACACGGTAGCGACTCCATAGATATTTGATAAATGAGTCTTAATTCTTAGAATCCCCAGTAAATGTTCCTCTAGTTAGAGGTATGTAACCAGGTTATGCCTTCAAATCTTTGTAGGAATGGAGGCCTAGCGTGGGGAGATGAAGTGGAAAACAGAAAGGGCAAAGGGTACTACTTCAGGGAGAATGGAATAGCCAAGATGGAGTGCAGTGGCTGGGTAGAAGTTTTTTTCTAATTTTCTTGTCAAGTATCGTTCCTTGTTGGACCACCAGCCATACTTGAACTGTATC... | pathogenic | 87,373 |
Chromosome 4, position 158706727, gene ETFDH (electron transfer flavoprotein dehydrogenase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | GTGAATCCTACATACCTGGCACACGGTAGCGACTCCATAGATATTTGATAAATGAGTCTTAATTCTTAGAATCCCCAGTAAATGTTCCTCTAGTTAGAGGTATGTAACCAGGTTATGCCTTCAAATCTTTGTAGGAATGGAGGCCTAGCGTGGGGAGATGAAGTGGAAAACAGAAAGGGCAAAGGGTACTACTTCAGGGAGAATGGAATAGCCAAGATGGAGTGCAGTGGCTGGGTAGAAGTTTTTTTCTAATTTTCTTGTCAAGTATCGTTCCTTGTTGGACCACCAGCCATACTTGAACTGTATCATGTGTATATAGT... | GTGAATCCTACATACCTGGCACACGGTAGCGACTCCATAGATATTTGATAAATGAGTCTTAATTCTTAGAATCCCCAGTAAATGTTCCTCTAGTTAGAGGTATGTAACCAGGTTATGCCTTCAAATCTTTGTAGGAATGGAGGCCTAGCGTGGGGAGATGAAGTGGAAAACAGAAAGGGCAAAGGGTACTACTTCAGGGAGAATGGAATAGCCAAGATGGAGTGCAGTGGCTGGGTAGAAGTTTTTTTCTAATTTTCTTGTCAAGTATCGTTCCTTGTTGGACCACCAGCCATACTTGAACTGTATCATGTGTATATAGT... | pathogenic | 87,374 |
Chromosome 4, position 158706782, gene ETFDH (electron transfer flavoprotein dehydrogenase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | GTCTTAATTCTTAGAATCCCCAGTAAATGTTCCTCTAGTTAGAGGTATGTAACCAGGTTATGCCTTCAAATCTTTGTAGGAATGGAGGCCTAGCGTGGGGAGATGAAGTGGAAAACAGAAAGGGCAAAGGGTACTACTTCAGGGAGAATGGAATAGCCAAGATGGAGTGCAGTGGCTGGGTAGAAGTTTTTTTCTAATTTTCTTGTCAAGTATCGTTCCTTGTTGGACCACCAGCCATACTTGAACTGTATCATGTGTATATAGTACCACACATAGATAATACTGGAGCCAGTATATCACCAAAGACTAGATTGAGGGTT... | GTCTTAATTCTTAGAATCCCCAGTAAATGTTCCTCTAGTTAGAGGTATGTAACCAGGTTATGCCTTCAAATCTTTGTAGGAATGGAGGCCTAGCGTGGGGAGATGAAGTGGAAAACAGAAAGGGCAAAGGGTACTACTTCAGGGAGAATGGAATAGCCAAGATGGAGTGCAGTGGCTGGGTAGAAGTTTTTTTCTAATTTTCTTGTCAAGTATCGTTCCTTGTTGGACCACCAGCCATACTTGAACTGTATCATGTGTATATAGTACCACACATAGATAATACTGGAGCCAGTATATCACCAAAGACTAGATTGAGGGTT... | pathogenic | 87,379 |
Variant chromosome 4, position 158706790, gene ETFDH (electron transfer flavoprotein dehydrogenase): benign or pathogenic? Disease(s)? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | TCTTAGAATCCCCAGTAAATGTTCCTCTAGTTAGAGGTATGTAACCAGGTTATGCCTTCAAATCTTTGTAGGAATGGAGGCCTAGCGTGGGGAGATGAAGTGGAAAACAGAAAGGGCAAAGGGTACTACTTCAGGGAGAATGGAATAGCCAAGATGGAGTGCAGTGGCTGGGTAGAAGTTTTTTTCTAATTTTCTTGTCAAGTATCGTTCCTTGTTGGACCACCAGCCATACTTGAACTGTATCATGTGTATATAGTACCACACATAGATAATACTGGAGCCAGTATATCACCAAAGACTAGATTGAGGGTTAAAGCCTA... | TCTTAGAATCCCCAGTAAATGTTCCTCTAGTTAGAGGTATGTAACCAGGTTATGCCTTCAAATCTTTGTAGGAATGGAGGCCTAGCGTGGGGAGATGAAGTGGAAAACAGAAAGGGCAAAGGGTACTACTTCAGGGAGAATGGAATAGCCAAGATGGAGTGCAGTGGCTGGGTAGAAGTTTTTTTCTAATTTTCTTGTCAAGTATCGTTCCTTGTTGGACCACCAGCCATACTTGAACTGTATCATGTGTATATAGTACCACACATAGATAATACTGGAGCCAGTATATCACCAAAGACTAGATTGAGGGTTAAAGCCTA... | pathogenic | 87,380 |
Regarding the variant found on chromosome 4 at position 158706806 in gene ETFDH (electron transfer flavoprotein dehydrogenase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Glutaric_acidemia_type_2C', 'Multiple_acyl-CoA_dehydrogenase_deficiency'] | AAATGTTCCTCTAGTTAGAGGTATGTAACCAGGTTATGCCTTCAAATCTTTGTAGGAATGGAGGCCTAGCGTGGGGAGATGAAGTGGAAAACAGAAAGGGCAAAGGGTACTACTTCAGGGAGAATGGAATAGCCAAGATGGAGTGCAGTGGCTGGGTAGAAGTTTTTTTCTAATTTTCTTGTCAAGTATCGTTCCTTGTTGGACCACCAGCCATACTTGAACTGTATCATGTGTATATAGTACCACACATAGATAATACTGGAGCCAGTATATCACCAAAGACTAGATTGAGGGTTAAAGCCTAAAGAAAAGGGGAGTGG... | AAATGTTCCTCTAGTTAGAGGTATGTAACCAGGTTATGCCTTCAAATCTTTGTAGGAATGGAGGCCTAGCGTGGGGAGATGAAGTGGAAAACAGAAAGGGCAAAGGGTACTACTTCAGGGAGAATGGAATAGCCAAGATGGAGTGCAGTGGCTGGGTAGAAGTTTTTTTCTAATTTTCTTGTCAAGTATCGTTCCTTGTTGGACCACCAGCCATACTTGAACTGTATCATGTGTATATAGTACCACACATAGATAATACTGGAGCCAGTATATCACCAAAGACTAGATTGAGGGTTAAAGCCTAAAGAAAAGGGGAGTGG... | pathogenic | 87,381 |
Does the variant impacting ETFDH (electron transfer flavoprotein dehydrogenase) on chromosome 4, position 158708445, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | CATGATCATTAAAAATTCATGAATGGGATCTGTTAATTAGAGAAAGTGATTGTTTTAATGTTTTCAACTTGGAGAAATTATAAATTTAGTGTCTAAGAACAGTATATTATTACTTGAGGGCTAGTCATATTTCTTTGGTGTGATAATATTTTGAAGTTTTTATACAAATAGGCTTAAGAAAAAGTACTTCAAAATCATATTTTGTTAAGCATTTCCCTCAAAATTGTTGAAGGTTCTGACTTTGAACGGCTCAAGCCAGCCAAGGATTGCACACCTATTGAGTATCCAAAACCCGATGGACAGATCAGTTTTGACCTCTT... | CATGATCATTAAAAATTCATGAATGGGATCTGTTAATTAGAGAAAGTGATTGTTTTAATGTTTTCAACTTGGAGAAATTATAAATTTAGTGTCTAAGAACAGTATATTATTACTTGAGGGCTAGTCATATTTCTTTGGTGTGATAATATTTTGAAGTTTTTATACAAATAGGCTTAAGAAAAAGTACTTCAAAATCATATTTTGTTAAGCATTTCCCTCAAAATTGTTGAAGGTTCTGACTTTGAACGGCTCAAGCCAGCCAAGGATTGCACACCTATTGAGTATCCAAAACCCGATGGACAGATCAGTTTTGACCTCTT... | pathogenic | 87,390 |
Mutation found at chromosome 4 position 158708514, gene ETFDH (electron transfer flavoprotein dehydrogenase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | TGGAGAAATTATAAATTTAGTGTCTAAGAACAGTATATTATTACTTGAGGGCTAGTCATATTTCTTTGGTGTGATAATATTTTGAAGTTTTTATACAAATAGGCTTAAGAAAAAGTACTTCAAAATCATATTTTGTTAAGCATTTCCCTCAAAATTGTTGAAGGTTCTGACTTTGAACGGCTCAAGCCAGCCAAGGATTGCACACCTATTGAGTATCCAAAACCCGATGGACAGATCAGTTTTGACCTCTTGTCATCTGTGGCTCTGAGTGGTACTAATCATGAACATGACCAGCCGGCACACTTAACCTTAAGGGATGA... | TGGAGAAATTATAAATTTAGTGTCTAAGAACAGTATATTATTACTTGAGGGCTAGTCATATTTCTTTGGTGTGATAATATTTTGAAGTTTTTATACAAATAGGCTTAAGAAAAAGTACTTCAAAATCATATTTTGTTAAGCATTTCCCTCAAAATTGTTGAAGGTTCTGACTTTGAACGGCTCAAGCCAGCCAAGGATTGCACACCTATTGAGTATCCAAAACCCGATGGACAGATCAGTTTTGACCTCTTGTCATCTGTGGCTCTGAGTGGTACTAATCATGAACATGACCAGCCGGCACACTTAACCTTAAGGGATGA... | pathogenic | 87,397 |
Determine if the mutation at chromosome 4, position 168926495 in gene PALLD is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CCTTAACTGTTCAGTCCTAATGATGTATCAAAAGATACATTTTATATAGCATGGAAATCTATGTGTAAAAGCCACATAGATGTTTTGATTTTTGATGAAATCAATCAAAGACAAAAACCATGCGTTACCCAATGTAGGATTAAGCTTTTAGAAGGAAGCTATGGGTGTTTGATCTAATGGTGATTTCTTAAAAGTGTTTATCATTCTATCTAAAAGAAAAGATGAATTCATTTGCTTTAGTGATAAAAGACTATTCAGTGGTTTTTGTAAAGGCAGATCCTCAACTAGGAATTAAGCACACAGATGTATTCAACTCTTGA... | CCTTAACTGTTCAGTCCTAATGATGTATCAAAAGATACATTTTATATAGCATGGAAATCTATGTGTAAAAGCCACATAGATGTTTTGATTTTTGATGAAATCAATCAAAGACAAAAACCATGCGTTACCCAATGTAGGATTAAGCTTTTAGAAGGAAGCTATGGGTGTTTGATCTAATGGTGATTTCTTAAAAGTGTTTATCATTCTATCTAAAAGAAAAGATGAATTCATTTGCTTTAGTGATAAAAGACTATTCAGTGGTTTTTGTAAAGGCAGATCCTCAACTAGGAATTAAGCACACAGATGTATTCAACTCTTGA... | benign | 87,629 |
A genetic alteration at chromosome 4, position 168928341, in gene PALLD—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CAGGGACTAGACATCAAAGCAGCGTTCCAACCTGAGGCCAACCCATCTCACCTGACACTGAATACTGCCTTGGTAGAAAGTGAGGACCTGTAATCCAGCATTCTTGTTAAAGCTGAAACACTGAAACAGCCATTGCCTTGACCAACATATTCCTTTGTCACATTATGTAAAAGGCAGAAACATACCTTTGACTATAAGAAATTAAAAAAAAAACACCAAAATAATATTTTTCTTACTTGATATACCAAACTTAGTTTAAGTAGATAATGCTAATACAAATATACACATTGCACAGAAAATACACATTTACTGTCCAATTT... | CAGGGACTAGACATCAAAGCAGCGTTCCAACCTGAGGCCAACCCATCTCACCTGACACTGAATACTGCCTTGGTAGAAAGTGAGGACCTGTAATCCAGCATTCTTGTTAAAGCTGAAACACTGAAACAGCCATTGCCTTGACCAACATATTCCTTTGTCACATTATGTAAAAGGCAGAAACATACCTTTGACTATAAGAAATTAAAAAAAAAACACCAAAATAATATTTTTCTTACTTGATATACCAAACTTAGTTTAAGTAGATAATGCTAATACAAATATACACATTGCACAGAAAATACACATTTACTGTCCAATTT... | benign | 87,633 |
Mutation at chromosome 4, position 169438269, within NEK1 (NIMA related kinase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GCTACTAAGTTTTAGGAGTAATTTGTTTTGCAGCAATAGATAATTGAAGCAGAATTACATATCCGGAAGCAAGGAGCTGATGTAAAAGCCTATGTGCACTGGCTTTGGGACTGCGGAGCAGGCAGAAATTGGAAGGGCTTCAATGACATTGTTGGTGAGAGACTGGCAAGTGAAAAACAGTTACTGGAGGCTGAAGAAAAGGGGATTCTTGCTCTACGGTGGCTGAAAATTTGGTAACTGCAATAATGTGGAAGATAGTAACTGTACTTTATGGATCCAGTGGTCTAGCTAAGGAATTATCAAAGCAGAACATTCAAAGT... | GCTACTAAGTTTTAGGAGTAATTTGTTTTGCAGCAATAGATAATTGAAGCAGAATTACATATCCGGAAGCAAGGAGCTGATGTAAAAGCCTATGTGCACTGGCTTTGGGACTGCGGAGCAGGCAGAAATTGGAAGGGCTTCAATGACATTGTTGGTGAGAGACTGGCAAGTGAAAAACAGTTACTGGAGGCTGAAGAAAAGGGGATTCTTGCTCTACGGTGGCTGAAAATTTGGTAACTGCAATAATGTGGAAGATAGTAACTGTACTTTATGGATCCAGTGGTCTAGCTAAGGAATTATCAAAGCAGAACATTCAAAGT... | benign | 87,657 |
Evaluate this variant at chromosome 4, position 169561873, gene NEK1 (NIMA related kinase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly'] | CATGCAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTAACAAGAGCGAAACTCCATCTCAAAAAAATAAAAAGATGTATTGACTTACAGTTTATTCAATGATACAAATTAGTGCATTCATCTTCTATTGCTGTATAACAAACTATCACAAATTTAGTAGCTTAAAACAATATCTATTTATAATCTCAGTTCCCC... | CATGCAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTAACAAGAGCGAAACTCCATCTCAAAAAAATAAAAAGATGTATTGACTTACAGTTTATTCAATGATACAAATTAGTGCATTCATCTTCTATTGCTGTATAACAAACTATCACAAATTTAGTAGCTTAAAACAATATCTATTTATAATCTCAGTTCCCC... | pathogenic | 87,684 |
Mutation found at chromosome 4 position 169561898, gene NEK1 (NIMA related kinase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTAACAAGAGCGAAACTCCATCTCAAAAAAATAAAAAGATGTATTGACTTACAGTTTATTCAATGATACAAATTAGTGCATTCATCTTCTATTGCTGTATAACAAACTATCACAAATTTAGTAGCTTAAAACAATATCTATTTATAATCTCAGTTCCCCTGGCTCAGGAATCTGGGTGCATTTA... | AAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTAACAAGAGCGAAACTCCATCTCAAAAAAATAAAAAGATGTATTGACTTACAGTTTATTCAATGATACAAATTAGTGCATTCATCTTCTATTGCTGTATAACAAACTATCACAAATTTAGTAGCTTAAAACAATATCTATTTATAATCTCAGTTCCCCTGGCTCAGGAATCTGGGTGCATTTA... | benign | 87,685 |
Regarding the variant at chromosome 4 and position 169589528, affecting gene NEK1 (NIMA related kinase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ATATAACTTAAAATATAATAAAAACATTATAGTCGCTTTTTAACATAACTTTGAAAGTATTTCAGAAACTTCTACTTACAGCATGTTTAAGTGTACACAGCTCATAAAGGACACACCCCAGAGCCCAAATGTCACTGGAGAAGATAAAAATGAGAAATTTCCTCTAAGTATTTCAAATTTTTTCATTTAAAGGAAACACAAACAGCATAAAAGTGTTTTGGAAAAATATGTGCTCCAGAAAAAATTTCCTTTAAAACTAAAAATTTCAACCATAATCAAATGACAAAAGTAGCTGTCCCAGATTGGAAAAAGAAAATGGT... | ATATAACTTAAAATATAATAAAAACATTATAGTCGCTTTTTAACATAACTTTGAAAGTATTTCAGAAACTTCTACTTACAGCATGTTTAAGTGTACACAGCTCATAAAGGACACACCCCAGAGCCCAAATGTCACTGGAGAAGATAAAAATGAGAAATTTCCTCTAAGTATTTCAAATTTTTTCATTTAAAGGAAACACAAACAGCATAAAAGTGTTTTGGAAAAATATGTGCTCCAGAAAAAATTTCCTTTAAAACTAAAAATTTCAACCATAATCAAATGACAAAAGTAGCTGTCCCAGATTGGAAAAAGAAAATGGT... | benign | 87,703 |
Regarding the variant found on chromosome 4 at position 174522355 in gene HPGD (15-hydroxyprostaglandin dehydrogenase): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TAACTTACCTAAACTCTCTTGGCTGTGATTTGTTCATTTGGAAAATAAGTTATGTTTAGATTATCTCCAAGAAACTTTTCATCTCATATTTTTATAATTTCCACACTGTCTAAACAATTTTAAAAGTTATAGGCAACATTAAATCCTGAAACTGGAAGAATCAATGTCATGTTTCCTTTAGATGCAAGCAAATGCTCATGTCCAGACAACATGTGGATTTCTCATGACCAACATGCCTTCCCGGGTCACTTATGTGTCTGAGTATTTTTCCTCCTCCACAATCATTTATCCTTAAGGAATGAGTTTATAGCCAAGGTATT... | TAACTTACCTAAACTCTCTTGGCTGTGATTTGTTCATTTGGAAAATAAGTTATGTTTAGATTATCTCCAAGAAACTTTTCATCTCATATTTTTATAATTTCCACACTGTCTAAACAATTTTAAAAGTTATAGGCAACATTAAATCCTGAAACTGGAAGAATCAATGTCATGTTTCCTTTAGATGCAAGCAAATGCTCATGTCCAGACAACATGTGGATTTCTCATGACCAACATGCCTTCCCGGGTCACTTATGTGTCTGAGTATTTTTCCTCCTCCACAATCATTTATCCTTAAGGAATGAGTTTATAGCCAAGGTATT... | benign | 87,758 |
Clinical significance of chromosome 4, position 177434387, gene AGA (aspartylglucosaminidase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Aspartylglucosaminuria', 'Inborn_genetic_diseases'] | TGTAAATTCATCCACAATTATATAATTATCATTTTTTTCATTCTGTTAAATCCAACTTTGAGCTTTCTAATAAGGTTTATTTCTTAAGAGGGAATCAATAGAACTGCCTTATTTGATACATAAAGCTTTTCCCCTTCATAATTTTTATTGACTTTTGTGTCTTAGTGCTTAAAAAAGAATAAAGCATTCCTCAAACAAGTTTTTCAAATATAGAACTGTGGGAAGTAAAAGATCAAAGAACAATAATAAGCAGTCCAACCTAATAAGTCATATTGATCAGTAAGCTGTGTATCTTCCCCATCTGAAAATTCACTAATGAG... | TGTAAATTCATCCACAATTATATAATTATCATTTTTTTCATTCTGTTAAATCCAACTTTGAGCTTTCTAATAAGGTTTATTTCTTAAGAGGGAATCAATAGAACTGCCTTATTTGATACATAAAGCTTTTCCCCTTCATAATTTTTATTGACTTTTGTGTCTTAGTGCTTAAAAAAGAATAAAGCATTCCTCAAACAAGTTTTTCAAATATAGAACTGTGGGAAGTAAAAGATCAAAGAACAATAATAAGCAGTCCAACCTAATAAGTCATATTGATCAGTAAGCTGTGTATCTTCCCCATCTGAAAATTCACTAATGAG... | pathogenic | 87,786 |
Assess the variant on chromosome 4, position 177437430, impacting AGA (aspartylglucosaminidase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Aspartylglucosaminuria'] | AGAACTTGTTATCAGCCAGGTATATACCAGGATGGCACAGATTTACAGTGACTATTCTATTATTACCATCCTTTATCATCTAATTTCCAGATGATTGCAACATGTTCAAAATTGGTTTCCCTCATCTATAATCTATTTCCGCTTCCTATGTAATGTGCCAAACTTTTACCAGATTTTTTTCTAGTAAGAAATGTTTAATGCTTTTCTATTTCAAAATTAAATCCAGAATGCCTTCAACTGACTTAAGACTCCTTAAATCTGGCCCCAGTCTTCCCTTGTAGTCTTATCTTCCAATACCACTTCCCCTACCCCAAAATACA... | AGAACTTGTTATCAGCCAGGTATATACCAGGATGGCACAGATTTACAGTGACTATTCTATTATTACCATCCTTTATCATCTAATTTCCAGATGATTGCAACATGTTCAAAATTGGTTTCCCTCATCTATAATCTATTTCCGCTTCCTATGTAATGTGCCAAACTTTTACCAGATTTTTTTCTAGTAAGAAATGTTTAATGCTTTTCTATTTCAAAATTAAATCCAGAATGCCTTCAACTGACTTAAGACTCCTTAAATCTGGCCCCAGTCTTCCCTTGTAGTCTTATCTTCCAATACCACTTCCCCTACCCCAAAATACA... | pathogenic | 87,791 |
Does the chromosome 4 mutation at position 177439555 within gene AGA (aspartylglucosaminidase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CTGGTATAACATTCTGTAAACAAGATTTAAGTTTTATTTCTTACAAAGGGTATTTTTAGAAATTGCCAAGAAATTATGTACAATCGCTAAACACTAGCAAGAAACCAAAAAAAGACATCTGGTAACTTAAAGATAAGAATTAAAAGCTAAGAAATCACTAAGTCTTATATAAAAACAAATAAGATAAATAATTTTACTGAATATCCATTCTAGTCTAAGAATTAAATAATACAGGTGAGGTATCTATATTGCATGACACAGGTCCCTAATTTCTCTCTTTATATATATCTAAAATTCTCAACACAATAGTAAAATTTTTT... | CTGGTATAACATTCTGTAAACAAGATTTAAGTTTTATTTCTTACAAAGGGTATTTTTAGAAATTGCCAAGAAATTATGTACAATCGCTAAACACTAGCAAGAAACCAAAAAAAGACATCTGGTAACTTAAAGATAAGAATTAAAAGCTAAGAAATCACTAAGTCTTATATAAAAACAAATAAGATAAATAATTTTACTGAATATCCATTCTAGTCTAAGAATTAAATAATACAGGTGAGGTATCTATATTGCATGACACAGGTCCCTAATTTCTCTCTTTATATATATCTAAAATTCTCAACACAATAGTAAAATTTTTT... | benign | 87,802 |
Gene mutation in AGA (aspartylglucosaminidase) at chromosome 4, position 177439579—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Aspartylglucosaminuria'] | ATTTAAGTTTTATTTCTTACAAAGGGTATTTTTAGAAATTGCCAAGAAATTATGTACAATCGCTAAACACTAGCAAGAAACCAAAAAAAGACATCTGGTAACTTAAAGATAAGAATTAAAAGCTAAGAAATCACTAAGTCTTATATAAAAACAAATAAGATAAATAATTTTACTGAATATCCATTCTAGTCTAAGAATTAAATAATACAGGTGAGGTATCTATATTGCATGACACAGGTCCCTAATTTCTCTCTTTATATATATCTAAAATTCTCAACACAATAGTAAAATTTTTTAAAATTAGATATTAATCCTTAAAG... | ATTTAAGTTTTATTTCTTACAAAGGGTATTTTTAGAAATTGCCAAGAAATTATGTACAATCGCTAAACACTAGCAAGAAACCAAAAAAAGACATCTGGTAACTTAAAGATAAGAATTAAAAGCTAAGAAATCACTAAGTCTTATATAAAAACAAATAAGATAAATAATTTTACTGAATATCCATTCTAGTCTAAGAATTAAATAATACAGGTGAGGTATCTATATTGCATGACACAGGTCCCTAATTTCTCTCTTTATATATATCTAAAATTCTCAACACAATAGTAAAATTTTTTAAAATTAGATATTAATCCTTAAAG... | pathogenic | 87,803 |
Is the genetic change at chromosome 4, position 177439591, within gene AGA (aspartylglucosaminidase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Aspartylglucosaminuria'] | TTTCTTACAAAGGGTATTTTTAGAAATTGCCAAGAAATTATGTACAATCGCTAAACACTAGCAAGAAACCAAAAAAAGACATCTGGTAACTTAAAGATAAGAATTAAAAGCTAAGAAATCACTAAGTCTTATATAAAAACAAATAAGATAAATAATTTTACTGAATATCCATTCTAGTCTAAGAATTAAATAATACAGGTGAGGTATCTATATTGCATGACACAGGTCCCTAATTTCTCTCTTTATATATATCTAAAATTCTCAACACAATAGTAAAATTTTTTAAAATTAGATATTAATCCTTAAAGAAATTAGATACA... | TTTCTTACAAAGGGTATTTTTAGAAATTGCCAAGAAATTATGTACAATCGCTAAACACTAGCAAGAAACCAAAAAAAGACATCTGGTAACTTAAAGATAAGAATTAAAAGCTAAGAAATCACTAAGTCTTATATAAAAACAAATAAGATAAATAATTTTACTGAATATCCATTCTAGTCTAAGAATTAAATAATACAGGTGAGGTATCTATATTGCATGACACAGGTCCCTAATTTCTCTCTTTATATATATCTAAAATTCTCAACACAATAGTAAAATTTTTTAAAATTAGATATTAATCCTTAAAGAAATTAGATACA... | pathogenic | 87,804 |
Clinical classification of chromosome 4, position 177439593, gene AGA (aspartylglucosaminidase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Aspartylglucosaminuria'] | TCTTACAAAGGGTATTTTTAGAAATTGCCAAGAAATTATGTACAATCGCTAAACACTAGCAAGAAACCAAAAAAAGACATCTGGTAACTTAAAGATAAGAATTAAAAGCTAAGAAATCACTAAGTCTTATATAAAAACAAATAAGATAAATAATTTTACTGAATATCCATTCTAGTCTAAGAATTAAATAATACAGGTGAGGTATCTATATTGCATGACACAGGTCCCTAATTTCTCTCTTTATATATATCTAAAATTCTCAACACAATAGTAAAATTTTTTAAAATTAGATATTAATCCTTAAAGAAATTAGATACACA... | TCTTACAAAGGGTATTTTTAGAAATTGCCAAGAAATTATGTACAATCGCTAAACACTAGCAAGAAACCAAAAAAAGACATCTGGTAACTTAAAGATAAGAATTAAAAGCTAAGAAATCACTAAGTCTTATATAAAAACAAATAAGATAAATAATTTTACTGAATATCCATTCTAGTCTAAGAATTAAATAATACAGGTGAGGTATCTATATTGCATGACACAGGTCCCTAATTTCTCTCTTTATATATATCTAAAATTCTCAACACAATAGTAAAATTTTTTAAAATTAGATATTAATCCTTAAAGAAATTAGATACACA... | pathogenic | 87,805 |
Evaluate the clinical significance of the mutation at chromosome 4, position 177439593 in gene AGA (aspartylglucosaminidase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Aspartylglucosaminuria'] | TCTTACAAAGGGTATTTTTAGAAATTGCCAAGAAATTATGTACAATCGCTAAACACTAGCAAGAAACCAAAAAAAGACATCTGGTAACTTAAAGATAAGAATTAAAAGCTAAGAAATCACTAAGTCTTATATAAAAACAAATAAGATAAATAATTTTACTGAATATCCATTCTAGTCTAAGAATTAAATAATACAGGTGAGGTATCTATATTGCATGACACAGGTCCCTAATTTCTCTCTTTATATATATCTAAAATTCTCAACACAATAGTAAAATTTTTTAAAATTAGATATTAATCCTTAAAGAAATTAGATACACA... | TCTTACAAAGGGTATTTTTAGAAATTGCCAAGAAATTATGTACAATCGCTAAACACTAGCAAGAAACCAAAAAAAGACATCTGGTAACTTAAAGATAAGAATTAAAAGCTAAGAAATCACTAAGTCTTATATAAAAACAAATAAGATAAATAATTTTACTGAATATCCATTCTAGTCTAAGAATTAAATAATACAGGTGAGGTATCTATATTGCATGACACAGGTCCCTAATTTCTCTCTTTATATATATCTAAAATTCTCAACACAATAGTAAAATTTTTTAAAATTAGATATTAATCCTTAAAGAAATTAGATACACA... | pathogenic | 87,806 |
Is the variant located on chromosome 4 at position 177439593, gene AGA (aspartylglucosaminidase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Aspartylglucosaminuria'] | TCTTACAAAGGGTATTTTTAGAAATTGCCAAGAAATTATGTACAATCGCTAAACACTAGCAAGAAACCAAAAAAAGACATCTGGTAACTTAAAGATAAGAATTAAAAGCTAAGAAATCACTAAGTCTTATATAAAAACAAATAAGATAAATAATTTTACTGAATATCCATTCTAGTCTAAGAATTAAATAATACAGGTGAGGTATCTATATTGCATGACACAGGTCCCTAATTTCTCTCTTTATATATATCTAAAATTCTCAACACAATAGTAAAATTTTTTAAAATTAGATATTAATCCTTAAAGAAATTAGATACACA... | TCTTACAAAGGGTATTTTTAGAAATTGCCAAGAAATTATGTACAATCGCTAAACACTAGCAAGAAACCAAAAAAAGACATCTGGTAACTTAAAGATAAGAATTAAAAGCTAAGAAATCACTAAGTCTTATATAAAAACAAATAAGATAAATAATTTTACTGAATATCCATTCTAGTCTAAGAATTAAATAATACAGGTGAGGTATCTATATTGCATGACACAGGTCCCTAATTTCTCTCTTTATATATATCTAAAATTCTCAACACAATAGTAAAATTTTTTAAAATTAGATATTAATCCTTAAAGAAATTAGATACACA... | pathogenic | 87,807 |
Clinically, how would you classify the variant at chromosome 4, position 177439598, gene AGA (aspartylglucosaminidase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Aspartylglucosaminuria'] | CAAAGGGTATTTTTAGAAATTGCCAAGAAATTATGTACAATCGCTAAACACTAGCAAGAAACCAAAAAAAGACATCTGGTAACTTAAAGATAAGAATTAAAAGCTAAGAAATCACTAAGTCTTATATAAAAACAAATAAGATAAATAATTTTACTGAATATCCATTCTAGTCTAAGAATTAAATAATACAGGTGAGGTATCTATATTGCATGACACAGGTCCCTAATTTCTCTCTTTATATATATCTAAAATTCTCAACACAATAGTAAAATTTTTTAAAATTAGATATTAATCCTTAAAGAAATTAGATACACACTGGA... | CAAAGGGTATTTTTAGAAATTGCCAAGAAATTATGTACAATCGCTAAACACTAGCAAGAAACCAAAAAAAGACATCTGGTAACTTAAAGATAAGAATTAAAAGCTAAGAAATCACTAAGTCTTATATAAAAACAAATAAGATAAATAATTTTACTGAATATCCATTCTAGTCTAAGAATTAAATAATACAGGTGAGGTATCTATATTGCATGACACAGGTCCCTAATTTCTCTCTTTATATATATCTAAAATTCTCAACACAATAGTAAAATTTTTTAAAATTAGATATTAATCCTTAAAGAAATTAGATACACACTGGA... | pathogenic | 87,808 |
Does the genetic variant at chromosome 4, position 177439636, impacting gene AGA (aspartylglucosaminidase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Aspartylglucosaminuria'] | AATCGCTAAACACTAGCAAGAAACCAAAAAAAGACATCTGGTAACTTAAAGATAAGAATTAAAAGCTAAGAAATCACTAAGTCTTATATAAAAACAAATAAGATAAATAATTTTACTGAATATCCATTCTAGTCTAAGAATTAAATAATACAGGTGAGGTATCTATATTGCATGACACAGGTCCCTAATTTCTCTCTTTATATATATCTAAAATTCTCAACACAATAGTAAAATTTTTTAAAATTAGATATTAATCCTTAAAGAAATTAGATACACACTGGACCTTTAAATTTCAGAAATTTGTTCCTTGGCCAAAGAAT... | AATCGCTAAACACTAGCAAGAAACCAAAAAAAGACATCTGGTAACTTAAAGATAAGAATTAAAAGCTAAGAAATCACTAAGTCTTATATAAAAACAAATAAGATAAATAATTTTACTGAATATCCATTCTAGTCTAAGAATTAAATAATACAGGTGAGGTATCTATATTGCATGACACAGGTCCCTAATTTCTCTCTTTATATATATCTAAAATTCTCAACACAATAGTAAAATTTTTTAAAATTAGATATTAATCCTTAAAGAAATTAGATACACACTGGACCTTTAAATTTCAGAAATTTGTTCCTTGGCCAAAGAAT... | pathogenic | 87,811 |
Assess the variant on chromosome 4, position 177439640, impacting AGA (aspartylglucosaminidase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Aspartylglucosaminuria', 'Inborn_genetic_diseases'] | GCTAAACACTAGCAAGAAACCAAAAAAAGACATCTGGTAACTTAAAGATAAGAATTAAAAGCTAAGAAATCACTAAGTCTTATATAAAAACAAATAAGATAAATAATTTTACTGAATATCCATTCTAGTCTAAGAATTAAATAATACAGGTGAGGTATCTATATTGCATGACACAGGTCCCTAATTTCTCTCTTTATATATATCTAAAATTCTCAACACAATAGTAAAATTTTTTAAAATTAGATATTAATCCTTAAAGAAATTAGATACACACTGGACCTTTAAATTTCAGAAATTTGTTCCTTGGCCAAAGAATTCTG... | GCTAAACACTAGCAAGAAACCAAAAAAAGACATCTGGTAACTTAAAGATAAGAATTAAAAGCTAAGAAATCACTAAGTCTTATATAAAAACAAATAAGATAAATAATTTTACTGAATATCCATTCTAGTCTAAGAATTAAATAATACAGGTGAGGTATCTATATTGCATGACACAGGTCCCTAATTTCTCTCTTTATATATATCTAAAATTCTCAACACAATAGTAAAATTTTTTAAAATTAGATATTAATCCTTAAAGAAATTAGATACACACTGGACCTTTAAATTTCAGAAATTTGTTCCTTGGCCAAAGAATTCTG... | pathogenic | 87,812 |
Regarding the variant at chromosome 4 and position 177440352, affecting gene AGA (aspartylglucosaminidase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Aspartylglucosaminuria'] | TAAAGAAAAATTATTCCACTGGTAACATACTAGACATGTAATATTACATGTCCTCAAGTCAAGAACAAGATACTGGATACACTGCACGTAAAATCTAAGAAATATTTTAGACTCATAGTTTCCAAACTGATTTTTTAGACTTAGTTAGAAAGAAATACAAGCAGAGCAGCCCTGATTGAGGCAGCCACCTCCACATGGCAGAAACTTCAGTTTGAAAACTATTGTGAGAGACCAGTAGCTCTCCATGCTGGATATGCACCCAATGCAGCTAGAGGTGTTTCAGGAACATCCATACCTGGAGAGTCAACTAAAACCACTAG... | TAAAGAAAAATTATTCCACTGGTAACATACTAGACATGTAATATTACATGTCCTCAAGTCAAGAACAAGATACTGGATACACTGCACGTAAAATCTAAGAAATATTTTAGACTCATAGTTTCCAAACTGATTTTTTAGACTTAGTTAGAAAGAAATACAAGCAGAGCAGCCCTGATTGAGGCAGCCACCTCCACATGGCAGAAACTTCAGTTTGAAAACTATTGTGAGAGACCAGTAGCTCTCCATGCTGGATATGCACCCAATGCAGCTAGAGGTGTTTCAGGAACATCCATACCTGGAGAGTCAACTAAAACCACTAG... | pathogenic | 87,824 |
Does the variant impacting AGA (aspartylglucosaminidase) on chromosome 4, position 177440352, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Aspartylglucosaminuria'] | TAAAGAAAAATTATTCCACTGGTAACATACTAGACATGTAATATTACATGTCCTCAAGTCAAGAACAAGATACTGGATACACTGCACGTAAAATCTAAGAAATATTTTAGACTCATAGTTTCCAAACTGATTTTTTAGACTTAGTTAGAAAGAAATACAAGCAGAGCAGCCCTGATTGAGGCAGCCACCTCCACATGGCAGAAACTTCAGTTTGAAAACTATTGTGAGAGACCAGTAGCTCTCCATGCTGGATATGCACCCAATGCAGCTAGAGGTGTTTCAGGAACATCCATACCTGGAGAGTCAACTAAAACCACTAG... | TAAAGAAAAATTATTCCACTGGTAACATACTAGACATGTAATATTACATGTCCTCAAGTCAAGAACAAGATACTGGATACACTGCACGTAAAATCTAAGAAATATTTTAGACTCATAGTTTCCAAACTGATTTTTTAGACTTAGTTAGAAAGAAATACAAGCAGAGCAGCCCTGATTGAGGCAGCCACCTCCACATGGCAGAAACTTCAGTTTGAAAACTATTGTGAGAGACCAGTAGCTCTCCATGCTGGATATGCACCCAATGCAGCTAGAGGTGTTTCAGGAACATCCATACCTGGAGAGTCAACTAAAACCACTAG... | pathogenic | 87,825 |
Gene AGA (aspartylglucosaminidase) variant at chromosome position 177440361 on chromosome 4: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Aspartylglucosaminuria'] | ATTATTCCACTGGTAACATACTAGACATGTAATATTACATGTCCTCAAGTCAAGAACAAGATACTGGATACACTGCACGTAAAATCTAAGAAATATTTTAGACTCATAGTTTCCAAACTGATTTTTTAGACTTAGTTAGAAAGAAATACAAGCAGAGCAGCCCTGATTGAGGCAGCCACCTCCACATGGCAGAAACTTCAGTTTGAAAACTATTGTGAGAGACCAGTAGCTCTCCATGCTGGATATGCACCCAATGCAGCTAGAGGTGTTTCAGGAACATCCATACCTGGAGAGTCAACTAAAACCACTAGTTCTAATGT... | ATTATTCCACTGGTAACATACTAGACATGTAATATTACATGTCCTCAAGTCAAGAACAAGATACTGGATACACTGCACGTAAAATCTAAGAAATATTTTAGACTCATAGTTTCCAAACTGATTTTTTAGACTTAGTTAGAAAGAAATACAAGCAGAGCAGCCCTGATTGAGGCAGCCACCTCCACATGGCAGAAACTTCAGTTTGAAAACTATTGTGAGAGACCAGTAGCTCTCCATGCTGGATATGCACCCAATGCAGCTAGAGGTGTTTCAGGAACATCCATACCTGGAGAGTCAACTAAAACCACTAGTTCTAATGT... | pathogenic | 87,826 |
Evaluate this variant at chromosome 4, position 177442268, gene AGA (aspartylglucosaminidase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Aspartylglucosaminuria'] | ACAACTCTAAATGTAACTCAACATAATAAATAGGACCTGAACGGTGTTCTTACCCATCCATGATCATGGCATCTAGTGTGGTTTCTCCAAGTTCATCAGGACTTCCTCCAAAGCCTACAGAGCCGTCACACTGCTCTCTCTCACACATGGCACAGCCGCTCTCCACTGCATCCAGGGCAGAGCCTCCAGATGCTAATGCCCTCCACGCTGTTAATCAAATCCCAATAATGCTTGTTTATATATATATTTTTTTTTCAATGCCAAATGCAACAAACCAACTCCAATTTAACAACTTTTTCACATTTACTGAGTTAAGCTGA... | ACAACTCTAAATGTAACTCAACATAATAAATAGGACCTGAACGGTGTTCTTACCCATCCATGATCATGGCATCTAGTGTGGTTTCTCCAAGTTCATCAGGACTTCCTCCAAAGCCTACAGAGCCGTCACACTGCTCTCTCTCACACATGGCACAGCCGCTCTCCACTGCATCCAGGGCAGAGCCTCCAGATGCTAATGCCCTCCACGCTGTTAATCAAATCCCAATAATGCTTGTTTATATATATATTTTTTTTTCAATGCCAAATGCAACAAACCAACTCCAATTTAACAACTTTTTCACATTTACTGAGTTAAGCTGA... | pathogenic | 87,832 |
Chromosome 4, position 177442289, gene AGA (aspartylglucosaminidase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Aspartylglucosaminuria'] | CATAATAAATAGGACCTGAACGGTGTTCTTACCCATCCATGATCATGGCATCTAGTGTGGTTTCTCCAAGTTCATCAGGACTTCCTCCAAAGCCTACAGAGCCGTCACACTGCTCTCTCTCACACATGGCACAGCCGCTCTCCACTGCATCCAGGGCAGAGCCTCCAGATGCTAATGCCCTCCACGCTGTTAATCAAATCCCAATAATGCTTGTTTATATATATATTTTTTTTTCAATGCCAAATGCAACAAACCAACTCCAATTTAACAACTTTTTCACATTTACTGAGTTAAGCTGATTTTTTAACACATTAGTTTAT... | CATAATAAATAGGACCTGAACGGTGTTCTTACCCATCCATGATCATGGCATCTAGTGTGGTTTCTCCAAGTTCATCAGGACTTCCTCCAAAGCCTACAGAGCCGTCACACTGCTCTCTCTCACACATGGCACAGCCGCTCTCCACTGCATCCAGGGCAGAGCCTCCAGATGCTAATGCCCTCCACGCTGTTAATCAAATCCCAATAATGCTTGTTTATATATATATTTTTTTTTCAATGCCAAATGCAACAAACCAACTCCAATTTAACAACTTTTTCACATTTACTGAGTTAAGCTGATTTTTTAACACATTAGTTTAT... | pathogenic | 87,834 |
A genetic variant on chromosome 4, position 177442320, affects the gene AGA (aspartylglucosaminidase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Aspartylglucosaminuria'] | CCCATCCATGATCATGGCATCTAGTGTGGTTTCTCCAAGTTCATCAGGACTTCCTCCAAAGCCTACAGAGCCGTCACACTGCTCTCTCTCACACATGGCACAGCCGCTCTCCACTGCATCCAGGGCAGAGCCTCCAGATGCTAATGCCCTCCACGCTGTTAATCAAATCCCAATAATGCTTGTTTATATATATATTTTTTTTTCAATGCCAAATGCAACAAACCAACTCCAATTTAACAACTTTTTCACATTTACTGAGTTAAGCTGATTTTTTAACACATTAGTTTATCAAGTGTTACAAAGGAGTCAGTGAAGAGTCA... | CCCATCCATGATCATGGCATCTAGTGTGGTTTCTCCAAGTTCATCAGGACTTCCTCCAAAGCCTACAGAGCCGTCACACTGCTCTCTCTCACACATGGCACAGCCGCTCTCCACTGCATCCAGGGCAGAGCCTCCAGATGCTAATGCCCTCCACGCTGTTAATCAAATCCCAATAATGCTTGTTTATATATATATTTTTTTTTCAATGCCAAATGCAACAAACCAACTCCAATTTAACAACTTTTTCACATTTACTGAGTTAAGCTGATTTTTTAACACATTAGTTTATCAAGTGTTACAAAGGAGTCAGTGAAGAGTCA... | pathogenic | 87,836 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 183666420, gene TRAPPC11 (trafficking protein particle complex subunit 11). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18'] | CCCCACCATCATTACTAATGTCGTTTTTGAATCCCATGGTCTGTGCAATGTGGCTCAATTTCACAGATTTTTTGAGCACTTGCTTTGTGATAGGTACCTGGAACCATGCAACAAGCTAGTGATACGAATTTAAGTGAGACAGGTTCCCTATTCTTGAGGAGTTTTACATAAACTAACACAGTTTATTCATTGCGGAATGAAGAAAGGTATTAAGTTCAAAACTGACTTTTAAGGTGAACGACATAGTAAAGACGACTTTACCTTAGATAATAATTATTATCATGATGATAGTATCACTAATAGCTAACATAGTTGTAAAA... | CCCCACCATCATTACTAATGTCGTTTTTGAATCCCATGGTCTGTGCAATGTGGCTCAATTTCACAGATTTTTTGAGCACTTGCTTTGTGATAGGTACCTGGAACCATGCAACAAGCTAGTGATACGAATTTAAGTGAGACAGGTTCCCTATTCTTGAGGAGTTTTACATAAACTAACACAGTTTATTCATTGCGGAATGAAGAAAGGTATTAAGTTCAAAACTGACTTTTAAGGTGAACGACATAGTAAAGACGACTTTACCTTAGATAATAATTATTATCATGATGATAGTATCACTAATAGCTAACATAGTTGTAAAA... | pathogenic | 87,927 |
Evaluate the clinical significance of the mutation at chromosome 4, position 183668067 in gene TRAPPC11 (trafficking protein particle complex subunit 11): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18'] | CTGATAGAAACTCTTTGGCTTCAGTCATTCTTTAAATGGGAAGTATAGCTTCTCCAGGGTTGAGATTCCACCTTCAACACTTACTAGTTCTTACTGAATCTGTAAGCCTGAGTTTCCTAATCAAAAATGGGAGGTGTGTATATTGAATGAGATCAATGCACATAAAGTGCTTGGCACTCAGTAACAGGTGGTTTCTGCTCCTGTCAGGTAACTTTTCAATTTCTGCCAATGTTTGCAGAGAACTTCATATGAGTGGTACATTCCTAAAGGGATCTTAAAGACTGGCTGGATGAATAAGCATCTGAATCTGGTGCCAGCCC... | CTGATAGAAACTCTTTGGCTTCAGTCATTCTTTAAATGGGAAGTATAGCTTCTCCAGGGTTGAGATTCCACCTTCAACACTTACTAGTTCTTACTGAATCTGTAAGCCTGAGTTTCCTAATCAAAAATGGGAGGTGTGTATATTGAATGAGATCAATGCACATAAAGTGCTTGGCACTCAGTAACAGGTGGTTTCTGCTCCTGTCAGGTAACTTTTCAATTTCTGCCAATGTTTGCAGAGAACTTCATATGAGTGGTACATTCCTAAAGGGATCTTAAAGACTGGCTGGATGAATAAGCATCTGAATCTGGTGCCAGCCC... | pathogenic | 87,938 |
Does the genetic variant at chromosome 4, position 183668069, impacting gene TRAPPC11 (trafficking protein particle complex subunit 11), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18', 'Limb-girdle_muscular_dystrophy'] | GATAGAAACTCTTTGGCTTCAGTCATTCTTTAAATGGGAAGTATAGCTTCTCCAGGGTTGAGATTCCACCTTCAACACTTACTAGTTCTTACTGAATCTGTAAGCCTGAGTTTCCTAATCAAAAATGGGAGGTGTGTATATTGAATGAGATCAATGCACATAAAGTGCTTGGCACTCAGTAACAGGTGGTTTCTGCTCCTGTCAGGTAACTTTTCAATTTCTGCCAATGTTTGCAGAGAACTTCATATGAGTGGTACATTCCTAAAGGGATCTTAAAGACTGGCTGGATGAATAAGCATCTGAATCTGGTGCCAGCCCTG... | GATAGAAACTCTTTGGCTTCAGTCATTCTTTAAATGGGAAGTATAGCTTCTCCAGGGTTGAGATTCCACCTTCAACACTTACTAGTTCTTACTGAATCTGTAAGCCTGAGTTTCCTAATCAAAAATGGGAGGTGTGTATATTGAATGAGATCAATGCACATAAAGTGCTTGGCACTCAGTAACAGGTGGTTTCTGCTCCTGTCAGGTAACTTTTCAATTTCTGCCAATGTTTGCAGAGAACTTCATATGAGTGGTACATTCCTAAAGGGATCTTAAAGACTGGCTGGATGAATAAGCATCTGAATCTGGTGCCAGCCCTG... | pathogenic | 87,939 |
Gene TRAPPC11 (trafficking protein particle complex subunit 11) variant at chromosome 4, position 183675156—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GCCCACCACCACACCTGGCCAATTTTTTGTATTTTTATTAGAGACAGGGTTTCACCGTGTTAGCCAGGCTGGTCTTGATCTCCTGACCTCGTGATCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCACTGTGCCCGGCCCCCATTTGCAAAATTTAAAGGATAGCTTAGGTTAATACATTCCTTCACACATTATTTGGTTCAAGGTTAGATTCTAATTTTGTCATATTTTAACATTTTTAAAACTACAGTTTTGAAAATAGAAAAATCTTAAAAGGCCGGACATGAGGGTTTATGCCTGTAATCCCAATA... | GCCCACCACCACACCTGGCCAATTTTTTGTATTTTTATTAGAGACAGGGTTTCACCGTGTTAGCCAGGCTGGTCTTGATCTCCTGACCTCGTGATCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCACTGTGCCCGGCCCCCATTTGCAAAATTTAAAGGATAGCTTAGGTTAATACATTCCTTCACACATTATTTGGTTCAAGGTTAGATTCTAATTTTGTCATATTTTAACATTTTTAAAACTACAGTTTTGAAAATAGAAAAATCTTAAAAGGCCGGACATGAGGGTTTATGCCTGTAATCCCAATA... | benign | 87,942 |
Evaluate if the mutation on chromosome 4 at position 183684147 in TRAPPC11 (trafficking protein particle complex subunit 11) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18'] | AATCATTAACAAATTTGTGCATGTGAAATCTGGAAGAATGATAACATACATTCTTAACAGTGGGAGTTGGTAGTAGGTTTATAAGTAATTTAGATTTTCATCCTTTTGGATGTTTTCTGCATTTTTCATGTATTACGTTTTGGTTTCAGAGGGAAAAGTTAAAAAGAAGAAAAAGCACTGTAAATCTGTCAGTTCTGGTGCCAAAAATATTCCCCCACAATAGCAAGATTTAATACAGAAGTGATAAAGAAGGAAAATAGTGTCTTCTTTGTAGAACTCCTTGTAACATTGTTTTCATTTACACAAAGAGCATGTATGCA... | AATCATTAACAAATTTGTGCATGTGAAATCTGGAAGAATGATAACATACATTCTTAACAGTGGGAGTTGGTAGTAGGTTTATAAGTAATTTAGATTTTCATCCTTTTGGATGTTTTCTGCATTTTTCATGTATTACGTTTTGGTTTCAGAGGGAAAAGTTAAAAAGAAGAAAAAGCACTGTAAATCTGTCAGTTCTGGTGCCAAAAATATTCCCCCACAATAGCAAGATTTAATACAGAAGTGATAAAGAAGGAAAATAGTGTCTTCTTTGTAGAACTCCTTGTAACATTGTTTTCATTTACACAAAGAGCATGTATGCA... | pathogenic | 87,958 |
Evaluate the clinical significance of the mutation at chromosome 4, position 183693075 in gene TRAPPC11 (trafficking protein particle complex subunit 11): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18'] | AAAAGGAGGTGATAAACAGTAGTGTCCAGTGCAACAAAGAACAAACTGTTTCTCTGGGAGAGGGATAGCTAAATATTTTCAGAAAACAGTTTATGTGTAGTGAACTGTTATATTATGGCAGCAGTAAGTGGATAAATGCCTCTATTTGGCATAAAAAATACTTCCTTTTATTAGTAACCCTTCATAATGCTTCAGTGTTTGTGGAGTTATACTAAATGAGCTCCAAAGCACTTGGCATTTAGGGTTAGCAGACATCTGACATTTGATGACCCCTGTTCACCTTTTTCAGGAATACAACCAGTTCTGTGTAATAGAAGAAG... | AAAAGGAGGTGATAAACAGTAGTGTCCAGTGCAACAAAGAACAAACTGTTTCTCTGGGAGAGGGATAGCTAAATATTTTCAGAAAACAGTTTATGTGTAGTGAACTGTTATATTATGGCAGCAGTAAGTGGATAAATGCCTCTATTTGGCATAAAAAATACTTCCTTTTATTAGTAACCCTTCATAATGCTTCAGTGTTTGTGGAGTTATACTAAATGAGCTCCAAAGCACTTGGCATTTAGGGTTAGCAGACATCTGACATTTGATGACCCCTGTTCACCTTTTTCAGGAATACAACCAGTTCTGTGTAATAGAAGAAG... | pathogenic | 87,977 |
Is chromosome 4, position 183694658, gene TRAPPC11 (trafficking protein particle complex subunit 11) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Inborn_genetic_diseases'] | CCATAGCCATCACAATACTTATTTCATTCAGCAACCACTAATTGAACCTTCATTACATCAGGGACTATGCCAGATGTTAAAATCATAACACTACTGTGCAATCAGCCTGTCAACAGAAAGTCAGGTTAGTGTCTCTGTTTTAAAGGTGAAGAAGTTGGAACCCAGAGCGCAGTTAGTCTCTGTCCCAGCCCGAGTAAGACCTCTAATAGCAGGTGTTCTCACTTCTGTCACACTGGGGGTCTCTAGATGAACTCCATGGTCTTAGCAGTCGACGATGTAATTTTGGTGAGAGGAGATGGTGACAAGCACATATGAGATGA... | CCATAGCCATCACAATACTTATTTCATTCAGCAACCACTAATTGAACCTTCATTACATCAGGGACTATGCCAGATGTTAAAATCATAACACTACTGTGCAATCAGCCTGTCAACAGAAAGTCAGGTTAGTGTCTCTGTTTTAAAGGTGAAGAAGTTGGAACCCAGAGCGCAGTTAGTCTCTGTCCCAGCCCGAGTAAGACCTCTAATAGCAGGTGTTCTCACTTCTGTCACACTGGGGGTCTCTAGATGAACTCCATGGTCTTAGCAGTCGACGATGTAATTTTGGTGAGAGGAGATGGTGACAAGCACATATGAGATGA... | pathogenic | 87,984 |
Is chromosome 4, position 183694726, gene TRAPPC11 (trafficking protein particle complex subunit 11) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GCCAGATGTTAAAATCATAACACTACTGTGCAATCAGCCTGTCAACAGAAAGTCAGGTTAGTGTCTCTGTTTTAAAGGTGAAGAAGTTGGAACCCAGAGCGCAGTTAGTCTCTGTCCCAGCCCGAGTAAGACCTCTAATAGCAGGTGTTCTCACTTCTGTCACACTGGGGGTCTCTAGATGAACTCCATGGTCTTAGCAGTCGACGATGTAATTTTGGTGAGAGGAGATGGTGACAAGCACATATGAGATGACATTTCCAACATCCTTTTTTTTCTTTTTAGATTACTTCAGTGGATCTTGCTCTGGGCAATGAGACGGG... | GCCAGATGTTAAAATCATAACACTACTGTGCAATCAGCCTGTCAACAGAAAGTCAGGTTAGTGTCTCTGTTTTAAAGGTGAAGAAGTTGGAACCCAGAGCGCAGTTAGTCTCTGTCCCAGCCCGAGTAAGACCTCTAATAGCAGGTGTTCTCACTTCTGTCACACTGGGGGTCTCTAGATGAACTCCATGGTCTTAGCAGTCGACGATGTAATTTTGGTGAGAGGAGATGGTGACAAGCACATATGAGATGACATTTCCAACATCCTTTTTTTTCTTTTTAGATTACTTCAGTGGATCTTGCTCTGGGCAATGAGACGGG... | benign | 87,985 |
Chromosome 4, position 183697876, gene TRAPPC11 (trafficking protein particle complex subunit 11): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TGTACTGTTGAAAATTTCTCATAGCCTGGTATAATACATAGAGTCCTATATGGTAGCTTAGGAGATAAGGGTGCCAATCTCAGCACATTATATGTATTATCTCATTTGATTTTTCTAACAAGCCTGTGAGGATTATGAAACTGGGACTTAAAGAGACTGCATGAGTTGAGCATCCCAAATCTGAAAATTCAAAATCCAAAACGTTCCAAAATCTTTTGGAAACTTTTTGAGTGCCAGCATGACACTCAAAGGAAATGCTCCCAGGAGCATTTTGGACTTGGAATGCTCAACAAGTAAGTATAATCCAAATACTCCAAAAT... | TGTACTGTTGAAAATTTCTCATAGCCTGGTATAATACATAGAGTCCTATATGGTAGCTTAGGAGATAAGGGTGCCAATCTCAGCACATTATATGTATTATCTCATTTGATTTTTCTAACAAGCCTGTGAGGATTATGAAACTGGGACTTAAAGAGACTGCATGAGTTGAGCATCCCAAATCTGAAAATTCAAAATCCAAAACGTTCCAAAATCTTTTGGAAACTTTTTGAGTGCCAGCATGACACTCAAAGGAAATGCTCCCAGGAGCATTTTGGACTTGGAATGCTCAACAAGTAAGTATAATCCAAATACTCCAAAAT... | benign | 87,992 |
Gene TRAPPC11 (trafficking protein particle complex subunit 11) variant at chromosome position 183706921 on chromosome 4: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18'] | TTTGAAACTAGCTGGTGAATACATGTTTCCTGTTTTTGATGAACTTCTTTCATAGTTTAAAAAGATGTTTAAAAAGAGTTTAAAAAGATGACCTCTTCTGCCACAGGACCTCAGCAATGGAGAATATCCCCATCATCACAACTGTCATCACTCTGCCGCACGTGATTGTGGAGAATATCCCTCTCCATGTGAATGCAGGTAGCGGAATTCAAATTTTACTTGATAAGAAGGACCCAATAATAATAGTTATTTTAACCTCTAAGAGTTTAGTTATTTTAACATTCTATTTAGAAAGTTTTTCAGCATTTGTAAAAGTAGCT... | TTTGAAACTAGCTGGTGAATACATGTTTCCTGTTTTTGATGAACTTCTTTCATAGTTTAAAAAGATGTTTAAAAAGAGTTTAAAAAGATGACCTCTTCTGCCACAGGACCTCAGCAATGGAGAATATCCCCATCATCACAACTGTCATCACTCTGCCGCACGTGATTGTGGAGAATATCCCTCTCCATGTGAATGCAGGTAGCGGAATTCAAATTTTACTTGATAAGAAGGACCCAATAATAATAGTTATTTTAACCTCTAAGAGTTTAGTTATTTTAACATTCTATTTAGAAAGTTTTTCAGCATTTGTAAAAGTAGCT... | pathogenic | 88,001 |
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