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 |
|---|---|---|---|---|---|
Regarding the variant at chromosome 1 and position 68448668, affecting gene RPE65 (retinoid isomerohydrolase RPE65): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Leber_congenital_amaurosis_2', 'Retinitis_pigmentosa_20'] | CCTGAGTTCAGAGGTGAAAACTCACATGGGAGGAGGAGCCAAGCTAGGCCCTACTTTGAGGAGGAGGAGTGGCATGGAGTGCTGCTTTACCTTCTGTGGTATGTGACATGTCCTTCTTTAAAGTCAAACTTGTGCAGGAGGGCTTGCCCATCAAACAGGTGGTAAAATGGCTCAGATCCAACTTCAAAGAGTCCTGGCCCACATCGAAGGAGACTGCCGGTGAGCCAGAGGGGGATCCTGCCTGTGATGAAGGGGAGACAGAACATTGCTTCTTATCCCTGCCTTGGGCTAGGCTTGTCCTTGGTAAGGCAGAGTATATC... | CCTGAGTTCAGAGGTGAAAACTCACATGGGAGGAGGAGCCAAGCTAGGCCCTACTTTGAGGAGGAGGAGTGGCATGGAGTGCTGCTTTACCTTCTGTGGTATGTGACATGTCCTTCTTTAAAGTCAAACTTGTGCAGGAGGGCTTGCCCATCAAACAGGTGGTAAAATGGCTCAGATCCAACTTCAAAGAGTCCTGGCCCACATCGAAGGAGACTGCCGGTGAGCCAGAGGGGGATCCTGCCTGTGATGAAGGGGAGACAGAACATTGCTTCTTATCCCTGCCTTGGGCTAGGCTTGTCCTTGGTAAGGCAGAGTATATC... | pathogenic | 10,680 |
Mutation found at chromosome 1 position 68449895, gene RPE65 (retinoid isomerohydrolase RPE65): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Leber_congenital_amaurosis_2', 'Retinitis_pigmentosa_20'] | CTCAAAAAACAAAACAAACAAACAAACAAAAAAACAAACAAAAAAAACCCCAGGTAGGTTTATCCTTTGAGAAGGGCAGTGATTGACAGTGCTTCCTTGATTCCTACCAGTGAAGTTTTTCAAGCAAATGGATTATTTCCTATAACTAATAATGATACTGATAGTAATAATTACTGTCTATTGATCACTTTGTGTTGGATAGTGGGTGAATCATTCTATTTACATTACTCCACTTAATTTTCACAACATCCTCATGACGTAAATTTTGGGTTTTTGTAGGTAAGGGAATTGAGGCTCAGAACGTTTAAGTAACTTAGAGG... | CTCAAAAAACAAAACAAACAAACAAACAAAAAAACAAACAAAAAAAACCCCAGGTAGGTTTATCCTTTGAGAAGGGCAGTGATTGACAGTGCTTCCTTGATTCCTACCAGTGAAGTTTTTCAAGCAAATGGATTATTTCCTATAACTAATAATGATACTGATAGTAATAATTACTGTCTATTGATCACTTTGTGTTGGATAGTGGGTGAATCATTCTATTTACATTACTCCACTTAATTTTCACAACATCCTCATGACGTAAATTTTGGGTTTTTGTAGGTAAGGGAATTGAGGCTCAGAACGTTTAAGTAACTTAGAGG... | pathogenic | 10,687 |
Clinically, how would you classify the variant at chromosome 1, position 75724782, gene ACADM (acyl-CoA dehydrogenase medium chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | TTTGTCTTAAGTTATCATTTCTACGTTCGTCCCTTCATTTGATCTCACAATGATGGTCTCAAGCAGTAACAGTAGTAACTGCTGTAACGATGGTCTCAAGTAGTAACCGTGGCAGTTGGCCACACTAACATTCTTTGATATCTGTTGGCCGTAATAAAGAAATCAATGTACTTTGTGCTCTTAGCTGCCACATTTTAGCCTAGATATTTGCCCTGGCATGCTTATACTGGTCCAAGGAAGCATTAGGCCATAGCCTGTTTTCTTCCTTATCTGGAGGTGTTTTTACCTTTCTCAGCATTCCACAAGTTGCTTCCTCCTTC... | TTTGTCTTAAGTTATCATTTCTACGTTCGTCCCTTCATTTGATCTCACAATGATGGTCTCAAGCAGTAACAGTAGTAACTGCTGTAACGATGGTCTCAAGTAGTAACCGTGGCAGTTGGCCACACTAACATTCTTTGATATCTGTTGGCCGTAATAAAGAAATCAATGTACTTTGTGCTCTTAGCTGCCACATTTTAGCCTAGATATTTGCCCTGGCATGCTTATACTGGTCCAAGGAAGCATTAGGCCATAGCCTGTTTTCTTCCTTATCTGGAGGTGTTTTTACCTTTCTCAGCATTCCACAAGTTGCTTCCTCCTTC... | pathogenic | 10,764 |
Is chromosome 1, position 75728416, gene ACADM (acyl-CoA dehydrogenase medium chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | AAAAAAAAAAAAAGTCCCTCAGTAGACCATTTAACCTGGTTTGAGTTCTGACTTTTGTGCATGGTATTTAAAAACGCATTTATAATAGAGTCAGGTTTTTTGTTCTGATTTTTGTGGAATGTTTTCCTTTGTTATGGAACCTAGTGACCAATTAGGATACTAACAGAAAGATCAGTATAGCAAGGTGGTTAATAGCATGCGCTCTTGATAGTAAATGTTAGAATCCTGGTTGCACTAATAGTAGAGTGACTTTGCCTAATTTAGTTGACTTTCTGAGCCTTCGTTTCTTCACATGCGAAAGTGGAATAAAAGTAATGGCT... | AAAAAAAAAAAAAGTCCCTCAGTAGACCATTTAACCTGGTTTGAGTTCTGACTTTTGTGCATGGTATTTAAAAACGCATTTATAATAGAGTCAGGTTTTTTGTTCTGATTTTTGTGGAATGTTTTCCTTTGTTATGGAACCTAGTGACCAATTAGGATACTAACAGAAAGATCAGTATAGCAAGGTGGTTAATAGCATGCGCTCTTGATAGTAAATGTTAGAATCCTGGTTGCACTAATAGTAGAGTGACTTTGCCTAATTTAGTTGACTTTCTGAGCCTTCGTTTCTTCACATGCGAAAGTGGAATAAAAGTAATGGCT... | pathogenic | 10,778 |
Evaluate if the mutation on chromosome 1 at position 75728472 in ACADM (acyl-CoA dehydrogenase medium chain) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | GTGCATGGTATTTAAAAACGCATTTATAATAGAGTCAGGTTTTTTGTTCTGATTTTTGTGGAATGTTTTCCTTTGTTATGGAACCTAGTGACCAATTAGGATACTAACAGAAAGATCAGTATAGCAAGGTGGTTAATAGCATGCGCTCTTGATAGTAAATGTTAGAATCCTGGTTGCACTAATAGTAGAGTGACTTTGCCTAATTTAGTTGACTTTCTGAGCCTTCGTTTCTTCACATGCGAAAGTGGAATAAAAGTAATGGCTTAATCCTAGACTTGACCTGGGATTCAGTGAATTAACCTGTGTAACGCGACTGTAAA... | GTGCATGGTATTTAAAAACGCATTTATAATAGAGTCAGGTTTTTTGTTCTGATTTTTGTGGAATGTTTTCCTTTGTTATGGAACCTAGTGACCAATTAGGATACTAACAGAAAGATCAGTATAGCAAGGTGGTTAATAGCATGCGCTCTTGATAGTAAATGTTAGAATCCTGGTTGCACTAATAGTAGAGTGACTTTGCCTAATTTAGTTGACTTTCTGAGCCTTCGTTTCTTCACATGCGAAAGTGGAATAAAAGTAATGGCTTAATCCTAGACTTGACCTGGGATTCAGTGAATTAACCTGTGTAACGCGACTGTAAA... | pathogenic | 10,781 |
Variant at chromosome 1, position 75728544, gene ACADM (acyl-CoA dehydrogenase medium chain): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TTGTTATGGAACCTAGTGACCAATTAGGATACTAACAGAAAGATCAGTATAGCAAGGTGGTTAATAGCATGCGCTCTTGATAGTAAATGTTAGAATCCTGGTTGCACTAATAGTAGAGTGACTTTGCCTAATTTAGTTGACTTTCTGAGCCTTCGTTTCTTCACATGCGAAAGTGGAATAAAAGTAATGGCTTAATCCTAGACTTGACCTGGGATTCAGTGAATTAACCTGTGTAACGCGACTGTAAATCAGAGTAGATTTGGTCTGTGACTGCTGGACAATAAGCACCAGAGAAACTGTTTCACTTTTTTTTTTTTTTT... | TTGTTATGGAACCTAGTGACCAATTAGGATACTAACAGAAAGATCAGTATAGCAAGGTGGTTAATAGCATGCGCTCTTGATAGTAAATGTTAGAATCCTGGTTGCACTAATAGTAGAGTGACTTTGCCTAATTTAGTTGACTTTCTGAGCCTTCGTTTCTTCACATGCGAAAGTGGAATAAAAGTAATGGCTTAATCCTAGACTTGACCTGGGATTCAGTGAATTAACCTGTGTAACGCGACTGTAAATCAGAGTAGATTTGGTCTGTGACTGCTGGACAATAAGCACCAGAGAAACTGTTTCACTTTTTTTTTTTTTTT... | benign | 10,784 |
Chromosome 1, position 75732687, gene ACADM (acyl-CoA dehydrogenase medium chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | CCTGAGCAGTTAGGACAATAGGTCCATGTCAACCACACCTAGCTGATTTTTTAAATTTTTAAATGTTTTGTTGAGACAGGATCTTGCTATATTGCTCAGGCTGGCCCCAAACTCCTGGCCTCAAATGGTTCACCTGCCTCAGCCTCCCAAAATTCTAGAATTATAGGCATGAGCTACCGTGCCCAGACTTTCTCTACCCTCTATCTACCTGCAAGATTGCTATCAACTGGCACCAATCTTAGAAGTAAAGCTGTGATAGAGAGAACACTGGACTGAAATTCTTAAGTATACTTCTGCTAATTCATTGTGAGACTGATACT... | CCTGAGCAGTTAGGACAATAGGTCCATGTCAACCACACCTAGCTGATTTTTTAAATTTTTAAATGTTTTGTTGAGACAGGATCTTGCTATATTGCTCAGGCTGGCCCCAAACTCCTGGCCTCAAATGGTTCACCTGCCTCAGCCTCCCAAAATTCTAGAATTATAGGCATGAGCTACCGTGCCCAGACTTTCTCTACCCTCTATCTACCTGCAAGATTGCTATCAACTGGCACCAATCTTAGAAGTAAAGCTGTGATAGAGAGAACACTGGACTGAAATTCTTAAGTATACTTCTGCTAATTCATTGTGAGACTGATACT... | pathogenic | 10,791 |
Determine if the mutation at chromosome 1, position 75732859 in gene ACADM (acyl-CoA dehydrogenase medium chain) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | GCTACCGTGCCCAGACTTTCTCTACCCTCTATCTACCTGCAAGATTGCTATCAACTGGCACCAATCTTAGAAGTAAAGCTGTGATAGAGAGAACACTGGACTGAAATTCTTAAGTATACTTCTGCTAATTCATTGTGAGACTGATACTAGAATTTCCTTACTCTGCATTAGTTTATCAATAAAAAGAGAGATTTGGCTGGGCGCAGTGGCTCGGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGAAGATCGAGATCCTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAT... | GCTACCGTGCCCAGACTTTCTCTACCCTCTATCTACCTGCAAGATTGCTATCAACTGGCACCAATCTTAGAAGTAAAGCTGTGATAGAGAGAACACTGGACTGAAATTCTTAAGTATACTTCTGCTAATTCATTGTGAGACTGATACTAGAATTTCCTTACTCTGCATTAGTTTATCAATAAAAAGAGAGATTTGGCTGGGCGCAGTGGCTCGGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGAAGATCGAGATCCTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAT... | pathogenic | 10,800 |
Clinical significance of chromosome 1, position 75732879, gene ACADM (acyl-CoA dehydrogenase medium chain): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | TCTACCCTCTATCTACCTGCAAGATTGCTATCAACTGGCACCAATCTTAGAAGTAAAGCTGTGATAGAGAGAACACTGGACTGAAATTCTTAAGTATACTTCTGCTAATTCATTGTGAGACTGATACTAGAATTTCCTTACTCTGCATTAGTTTATCAATAAAAAGAGAGATTTGGCTGGGCGCAGTGGCTCGGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGAAGATCGAGATCCTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAATTAGCCGGGCGCGGTGGCAGG... | TCTACCCTCTATCTACCTGCAAGATTGCTATCAACTGGCACCAATCTTAGAAGTAAAGCTGTGATAGAGAGAACACTGGACTGAAATTCTTAAGTATACTTCTGCTAATTCATTGTGAGACTGATACTAGAATTTCCTTACTCTGCATTAGTTTATCAATAAAAAGAGAGATTTGGCTGGGCGCAGTGGCTCGGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGAAGATCGAGATCCTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAATTAGCCGGGCGCGGTGGCAGG... | pathogenic | 10,802 |
Does the chromosome 1 mutation at position 75733547 within gene ACADM (acyl-CoA dehydrogenase medium chain) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | ACACAAGGATACCATGGATTTGAAAAGATGCAGTTAGCAATTGACTCCTCTCCTCAATCAAGCCACCATACTAATTTCATTAATTTTAAAACAATCCCTTATTTTATGTAAACAAATTGTTGGACACCATTTATTAGCATTGCAGCAGGATTTTATGTTATTATCTTTTGAAAAACCTTTCTACCACTTTTACCAGTTGCTTTGTGCTAATTTATAAGCTTGTCTGAGTTTAAAGGAGCTGTAAGCCTAGGCATGGTGTCTCATGCTTGTAATCCCAGCACTTTAGGAGACCACGGCAGGAGGATTGCTTGAGGCCACGA... | ACACAAGGATACCATGGATTTGAAAAGATGCAGTTAGCAATTGACTCCTCTCCTCAATCAAGCCACCATACTAATTTCATTAATTTTAAAACAATCCCTTATTTTATGTAAACAAATTGTTGGACACCATTTATTAGCATTGCAGCAGGATTTTATGTTATTATCTTTTGAAAAACCTTTCTACCACTTTTACCAGTTGCTTTGTGCTAATTTATAAGCTTGTCTGAGTTTAAAGGAGCTGTAAGCCTAGGCATGGTGTCTCATGCTTGTAATCCCAGCACTTTAGGAGACCACGGCAGGAGGATTGCTTGAGGCCACGA... | pathogenic | 10,813 |
Evaluate the clinical significance of the mutation at chromosome 1, position 75733559 in gene ACADM (acyl-CoA dehydrogenase medium chain): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | CATGGATTTGAAAAGATGCAGTTAGCAATTGACTCCTCTCCTCAATCAAGCCACCATACTAATTTCATTAATTTTAAAACAATCCCTTATTTTATGTAAACAAATTGTTGGACACCATTTATTAGCATTGCAGCAGGATTTTATGTTATTATCTTTTGAAAAACCTTTCTACCACTTTTACCAGTTGCTTTGTGCTAATTTATAAGCTTGTCTGAGTTTAAAGGAGCTGTAAGCCTAGGCATGGTGTCTCATGCTTGTAATCCCAGCACTTTAGGAGACCACGGCAGGAGGATTGCTTGAGGCCACGAGTTCAAGACCAG... | CATGGATTTGAAAAGATGCAGTTAGCAATTGACTCCTCTCCTCAATCAAGCCACCATACTAATTTCATTAATTTTAAAACAATCCCTTATTTTATGTAAACAAATTGTTGGACACCATTTATTAGCATTGCAGCAGGATTTTATGTTATTATCTTTTGAAAAACCTTTCTACCACTTTTACCAGTTGCTTTGTGCTAATTTATAAGCTTGTCTGAGTTTAAAGGAGCTGTAAGCCTAGGCATGGTGTCTCATGCTTGTAATCCCAGCACTTTAGGAGACCACGGCAGGAGGATTGCTTGAGGCCACGAGTTCAAGACCAG... | pathogenic | 10,815 |
A genetic variant at chromosome 1, position 75733592, affecting gene ACADM (acyl-CoA dehydrogenase medium chain)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | TCCTCTCCTCAATCAAGCCACCATACTAATTTCATTAATTTTAAAACAATCCCTTATTTTATGTAAACAAATTGTTGGACACCATTTATTAGCATTGCAGCAGGATTTTATGTTATTATCTTTTGAAAAACCTTTCTACCACTTTTACCAGTTGCTTTGTGCTAATTTATAAGCTTGTCTGAGTTTAAAGGAGCTGTAAGCCTAGGCATGGTGTCTCATGCTTGTAATCCCAGCACTTTAGGAGACCACGGCAGGAGGATTGCTTGAGGCCACGAGTTCAAGACCAGCCTGGCATCATAGTGAGACCCTGTCTCTGTGAA... | TCCTCTCCTCAATCAAGCCACCATACTAATTTCATTAATTTTAAAACAATCCCTTATTTTATGTAAACAAATTGTTGGACACCATTTATTAGCATTGCAGCAGGATTTTATGTTATTATCTTTTGAAAAACCTTTCTACCACTTTTACCAGTTGCTTTGTGCTAATTTATAAGCTTGTCTGAGTTTAAAGGAGCTGTAAGCCTAGGCATGGTGTCTCATGCTTGTAATCCCAGCACTTTAGGAGACCACGGCAGGAGGATTGCTTGAGGCCACGAGTTCAAGACCAGCCTGGCATCATAGTGAGACCCTGTCTCTGTGAA... | pathogenic | 10,817 |
A genetic alteration at chromosome 1, position 75733621, in gene ACADM (acyl-CoA dehydrogenase medium chain)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | TTTCATTAATTTTAAAACAATCCCTTATTTTATGTAAACAAATTGTTGGACACCATTTATTAGCATTGCAGCAGGATTTTATGTTATTATCTTTTGAAAAACCTTTCTACCACTTTTACCAGTTGCTTTGTGCTAATTTATAAGCTTGTCTGAGTTTAAAGGAGCTGTAAGCCTAGGCATGGTGTCTCATGCTTGTAATCCCAGCACTTTAGGAGACCACGGCAGGAGGATTGCTTGAGGCCACGAGTTCAAGACCAGCCTGGCATCATAGTGAGACCCTGTCTCTGTGAAAACAAAAAAAATGAAATAGATAGGGTGAG... | TTTCATTAATTTTAAAACAATCCCTTATTTTATGTAAACAAATTGTTGGACACCATTTATTAGCATTGCAGCAGGATTTTATGTTATTATCTTTTGAAAAACCTTTCTACCACTTTTACCAGTTGCTTTGTGCTAATTTATAAGCTTGTCTGAGTTTAAAGGAGCTGTAAGCCTAGGCATGGTGTCTCATGCTTGTAATCCCAGCACTTTAGGAGACCACGGCAGGAGGATTGCTTGAGGCCACGAGTTCAAGACCAGCCTGGCATCATAGTGAGACCCTGTCTCTGTGAAAACAAAAAAAATGAAATAGATAGGGTGAG... | pathogenic | 10,820 |
Variant on chromosome 1, at position 75734798, affecting ACADM (acyl-CoA dehydrogenase medium chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | ATACATTTTAAAGAGGGAAAAATCTTTTACATTTTTTACAAGATTATGTAATCAAACTATCTGGATTTCAAAATATATTTTAACTCAGTTCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTGGTAAGCTTTCTTTATATTTTTAATACTGGAATGCATATGAGTAAGAAAAATTGTGGAACTCTACTCAGTCATTTTTTTCAAATATTTCTTGCCATTAAATGACTTTCTACCTTTGTCTTCCTGCTCAGACTACAGTGTTTGCCCACT... | ATACATTTTAAAGAGGGAAAAATCTTTTACATTTTTTACAAGATTATGTAATCAAACTATCTGGATTTCAAAATATATTTTAACTCAGTTCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTGGTAAGCTTTCTTTATATTTTTAATACTGGAATGCATATGAGTAAGAAAAATTGTGGAACTCTACTCAGTCATTTTTTTCAAATATTTCTTGCCATTAAATGACTTTCTACCTTTGTCTTCCTGCTCAGACTACAGTGTTTGCCCACT... | pathogenic | 10,826 |
The genetic variant at chromosome 1, position 75734828, affecting gene ACADM (acyl-CoA dehydrogenase medium chain): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | ATTTTTTACAAGATTATGTAATCAAACTATCTGGATTTCAAAATATATTTTAACTCAGTTCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTGGTAAGCTTTCTTTATATTTTTAATACTGGAATGCATATGAGTAAGAAAAATTGTGGAACTCTACTCAGTCATTTTTTTCAAATATTTCTTGCCATTAAATGACTTTCTACCTTTGTCTTCCTGCTCAGACTACAGTGTTTGCCCACTTTTGGAAGCTTGCACTCTATACCTAGATGC... | ATTTTTTACAAGATTATGTAATCAAACTATCTGGATTTCAAAATATATTTTAACTCAGTTCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTGGTAAGCTTTCTTTATATTTTTAATACTGGAATGCATATGAGTAAGAAAAATTGTGGAACTCTACTCAGTCATTTTTTTCAAATATTTCTTGCCATTAAATGACTTTCTACCTTTGTCTTCCTGCTCAGACTACAGTGTTTGCCCACTTTTGGAAGCTTGCACTCTATACCTAGATGC... | pathogenic | 10,828 |
Clinically, how would you classify the variant at chromosome 1, position 75734832, gene ACADM (acyl-CoA dehydrogenase medium chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | TTTACAAGATTATGTAATCAAACTATCTGGATTTCAAAATATATTTTAACTCAGTTCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTGGTAAGCTTTCTTTATATTTTTAATACTGGAATGCATATGAGTAAGAAAAATTGTGGAACTCTACTCAGTCATTTTTTTCAAATATTTCTTGCCATTAAATGACTTTCTACCTTTGTCTTCCTGCTCAGACTACAGTGTTTGCCCACTTTTGGAAGCTTGCACTCTATACCTAGATGCGTTT... | TTTACAAGATTATGTAATCAAACTATCTGGATTTCAAAATATATTTTAACTCAGTTCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTGGTAAGCTTTCTTTATATTTTTAATACTGGAATGCATATGAGTAAGAAAAATTGTGGAACTCTACTCAGTCATTTTTTTCAAATATTTCTTGCCATTAAATGACTTTCTACCTTTGTCTTCCTGCTCAGACTACAGTGTTTGCCCACTTTTGGAAGCTTGCACTCTATACCTAGATGCGTTT... | pathogenic | 10,829 |
Clinical classification of chromosome 1, position 75734837, gene ACADM (acyl-CoA dehydrogenase medium chain): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | AAGATTATGTAATCAAACTATCTGGATTTCAAAATATATTTTAACTCAGTTCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTGGTAAGCTTTCTTTATATTTTTAATACTGGAATGCATATGAGTAAGAAAAATTGTGGAACTCTACTCAGTCATTTTTTTCAAATATTTCTTGCCATTAAATGACTTTCTACCTTTGTCTTCCTGCTCAGACTACAGTGTTTGCCCACTTTTGGAAGCTTGCACTCTATACCTAGATGCGTTTTTCCT... | AAGATTATGTAATCAAACTATCTGGATTTCAAAATATATTTTAACTCAGTTCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTGGTAAGCTTTCTTTATATTTTTAATACTGGAATGCATATGAGTAAGAAAAATTGTGGAACTCTACTCAGTCATTTTTTTCAAATATTTCTTGCCATTAAATGACTTTCTACCTTTGTCTTCCTGCTCAGACTACAGTGTTTGCCCACTTTTGGAAGCTTGCACTCTATACCTAGATGCGTTTTTCCT... | pathogenic | 10,831 |
Chromosome 1, position 75734848, gene ACADM (acyl-CoA dehydrogenase medium chain): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | ATCAAACTATCTGGATTTCAAAATATATTTTAACTCAGTTCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTGGTAAGCTTTCTTTATATTTTTAATACTGGAATGCATATGAGTAAGAAAAATTGTGGAACTCTACTCAGTCATTTTTTTCAAATATTTCTTGCCATTAAATGACTTTCTACCTTTGTCTTCCTGCTCAGACTACAGTGTTTGCCCACTTTTGGAAGCTTGCACTCTATACCTAGATGCGTTTTTCCTTCTTCTAACTG... | ATCAAACTATCTGGATTTCAAAATATATTTTAACTCAGTTCTTTTTCTTCTAGTATCCAGTCCCCCTAATTAGAAGAGCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTGGTAAGCTTTCTTTATATTTTTAATACTGGAATGCATATGAGTAAGAAAAATTGTGGAACTCTACTCAGTCATTTTTTTCAAATATTTCTTGCCATTAAATGACTTTCTACCTTTGTCTTCCTGCTCAGACTACAGTGTTTGCCCACTTTTGGAAGCTTGCACTCTATACCTAGATGCGTTTTTCCTTCTTCTAACTG... | pathogenic | 10,833 |
Determine whether the variant at chromosome 1, position 75740077, in gene ACADM (acyl-CoA dehydrogenase medium chain) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | GCCTCAGCCTCCCAAGCAGCTGGGACTACAGGTGCGTGCCACCACGCCTGCCTAATTTTTTGTATGTTTAGTAGAGACAAGATTTCACTGTGTTAGCCAGGATGGTCTCTATCTCCTGACCTCATGATCTGCCCACCTTGGCCTCCCAATGTGCTGGAATTACAGGTGTGAGCCACCATGCCCAGCCAAGTATTGTTATTATTTTTTTTTTCTGAAATGGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTCCTCAGCCTCCCAAG... | GCCTCAGCCTCCCAAGCAGCTGGGACTACAGGTGCGTGCCACCACGCCTGCCTAATTTTTTGTATGTTTAGTAGAGACAAGATTTCACTGTGTTAGCCAGGATGGTCTCTATCTCCTGACCTCATGATCTGCCCACCTTGGCCTCCCAATGTGCTGGAATTACAGGTGTGAGCCACCATGCCCAGCCAAGTATTGTTATTATTTTTTTTTTCTGAAATGGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTCCTCAGCCTCCCAAG... | pathogenic | 10,845 |
Variant at chromosome position 75745806, chromosome 1, gene ACADM (acyl-CoA dehydrogenase medium chain): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | TAATTCATAGCTTCCACATTCCTGATGACTGGAACCACCAGACCCTGTGGGGTGGCCACTGCAACACTGATGTCAATATAATCCCTATATACCACCTCTTTGGTTATATCATCAATCACTGCGTTTACAACAGGCTGTTCCTGCAAGGCAAAGGCTGAGGCCTTCACAGATGCCGACATGAAGCCTAGTTTGAGGTTATGTTTCTTCAAAAAAGCCTCTTTGTGCCGAGCCCTCATCTTCTGGATGTTACTCACATCAATCTCATTAAAAATTGTCAGCATTGGCACATGTATTCTGGGCCTCCTTCAGACGCTGAGCAA... | TAATTCATAGCTTCCACATTCCTGATGACTGGAACCACCAGACCCTGTGGGGTGGCCACTGCAACACTGATGTCAATATAATCCCTATATACCACCTCTTTGGTTATATCATCAATCACTGCGTTTACAACAGGCTGTTCCTGCAAGGCAAAGGCTGAGGCCTTCACAGATGCCGACATGAAGCCTAGTTTGAGGTTATGTTTCTTCAAAAAAGCCTCTTTGTGCCGAGCCCTCATCTTCTGGATGTTACTCACATCAATCTCATTAAAAATTGTCAGCATTGGCACATGTATTCTGGGCCTCCTTCAGACGCTGAGCAA... | pathogenic | 10,857 |
Variant at chromosome position 75749484, chromosome 1, gene ACADM (acyl-CoA dehydrogenase medium chain): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | TTTAAGCCTCCTTAAATCTTTATTGAAACAAATGGATATTTACAAATTTGTGAAATTTAATGTTTTCAGGCCAGGTTTGGTGGTTCATGACTGTAATCCTAGCACTTTGGGAGGTTGAGGTGGGAGAACTATTTGAACCCAGGAGTTCAGGACCAGCCTGGGCAACATATTGAGACTTTACCTCTACAAAAAAATTTGAAAATTAGCCAGTGGCAGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAAGTGGGAGGATCACCTAAGCCCAGGAAGTCAAGGCTGCAGTGAGCCATGCTCCTGTTGCTGTCTGT... | TTTAAGCCTCCTTAAATCTTTATTGAAACAAATGGATATTTACAAATTTGTGAAATTTAATGTTTTCAGGCCAGGTTTGGTGGTTCATGACTGTAATCCTAGCACTTTGGGAGGTTGAGGTGGGAGAACTATTTGAACCCAGGAGTTCAGGACCAGCCTGGGCAACATATTGAGACTTTACCTCTACAAAAAAATTTGAAAATTAGCCAGTGGCAGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAAGTGGGAGGATCACCTAAGCCCAGGAAGTCAAGGCTGCAGTGAGCCATGCTCCTGTTGCTGTCTGT... | pathogenic | 10,882 |
A genetic variant at chromosome 1, position 75749504, affecting gene ACADM (acyl-CoA dehydrogenase medium chain)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | TATTGAAACAAATGGATATTTACAAATTTGTGAAATTTAATGTTTTCAGGCCAGGTTTGGTGGTTCATGACTGTAATCCTAGCACTTTGGGAGGTTGAGGTGGGAGAACTATTTGAACCCAGGAGTTCAGGACCAGCCTGGGCAACATATTGAGACTTTACCTCTACAAAAAAATTTGAAAATTAGCCAGTGGCAGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAAGTGGGAGGATCACCTAAGCCCAGGAAGTCAAGGCTGCAGTGAGCCATGCTCCTGTTGCTGTCTGTACTGCAGCCTGGATGACAGA... | TATTGAAACAAATGGATATTTACAAATTTGTGAAATTTAATGTTTTCAGGCCAGGTTTGGTGGTTCATGACTGTAATCCTAGCACTTTGGGAGGTTGAGGTGGGAGAACTATTTGAACCCAGGAGTTCAGGACCAGCCTGGGCAACATATTGAGACTTTACCTCTACAAAAAAATTTGAAAATTAGCCAGTGGCAGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAAGTGGGAGGATCACCTAAGCCCAGGAAGTCAAGGCTGCAGTGAGCCATGCTCCTGTTGCTGTCTGTACTGCAGCCTGGATGACAGA... | pathogenic | 10,883 |
Determine whether the variant at chromosome 1, position 75749524, in gene ACADM (acyl-CoA dehydrogenase medium chain) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | TACAAATTTGTGAAATTTAATGTTTTCAGGCCAGGTTTGGTGGTTCATGACTGTAATCCTAGCACTTTGGGAGGTTGAGGTGGGAGAACTATTTGAACCCAGGAGTTCAGGACCAGCCTGGGCAACATATTGAGACTTTACCTCTACAAAAAAATTTGAAAATTAGCCAGTGGCAGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAAGTGGGAGGATCACCTAAGCCCAGGAAGTCAAGGCTGCAGTGAGCCATGCTCCTGTTGCTGTCTGTACTGCAGCCTGGATGACAGAGTGAGACCTAATGTTTTCAA... | TACAAATTTGTGAAATTTAATGTTTTCAGGCCAGGTTTGGTGGTTCATGACTGTAATCCTAGCACTTTGGGAGGTTGAGGTGGGAGAACTATTTGAACCCAGGAGTTCAGGACCAGCCTGGGCAACATATTGAGACTTTACCTCTACAAAAAAATTTGAAAATTAGCCAGTGGCAGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAAGTGGGAGGATCACCTAAGCCCAGGAAGTCAAGGCTGCAGTGAGCCATGCTCCTGTTGCTGTCTGTACTGCAGCCTGGATGACAGAGTGAGACCTAATGTTTTCAA... | pathogenic | 10,887 |
Regarding the variant at chromosome 1 and position 75750480, affecting gene ACADM (acyl-CoA dehydrogenase medium chain): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | AAATGTTTATTGTAATTTTATTAATGATTGCTAAAAAGGAGGGGAGTATCCGTCAACTAGTGAAAAGATAATGGATATATGGTACATCCAAGAGTGGGATACTACTTAGCAGTAAAATAAATGAATTATTGATCATGCAGCAACATGGATGAATCTCAGAAGCACTATACTAAGTGAAAAGTCAGACACAGAAAGCGGACTTTATTATTTCACTTAAATGACATTCTGGAAAAGGAAAGACTACGCGGAGAGAAATCACACAGTGGTTGCCAGGGGATAAGTGTAGAATAAGGAAATTGACTATAAAGGGAGAACAAGGT... | AAATGTTTATTGTAATTTTATTAATGATTGCTAAAAAGGAGGGGAGTATCCGTCAACTAGTGAAAAGATAATGGATATATGGTACATCCAAGAGTGGGATACTACTTAGCAGTAAAATAAATGAATTATTGATCATGCAGCAACATGGATGAATCTCAGAAGCACTATACTAAGTGAAAAGTCAGACACAGAAAGCGGACTTTATTATTTCACTTAAATGACATTCTGGAAAAGGAAAGACTACGCGGAGAGAAATCACACAGTGGTTGCCAGGGGATAAGTGTAGAATAAGGAAATTGACTATAAAGGGAGAACAAGGT... | pathogenic | 10,895 |
Clinically, how would you classify the variant at chromosome 1, position 75750524, gene ACADM (acyl-CoA dehydrogenase medium chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | AGTATCCGTCAACTAGTGAAAAGATAATGGATATATGGTACATCCAAGAGTGGGATACTACTTAGCAGTAAAATAAATGAATTATTGATCATGCAGCAACATGGATGAATCTCAGAAGCACTATACTAAGTGAAAAGTCAGACACAGAAAGCGGACTTTATTATTTCACTTAAATGACATTCTGGAAAAGGAAAGACTACGCGGAGAGAAATCACACAGTGGTTGCCAGGGGATAAGTGTAGAATAAGGAAATTGACTATAAAGGGAGAACAAGGTAACTTTTTGGGGTTCTAAAGTACTCTGTATCTTGAGCATGGTGG... | AGTATCCGTCAACTAGTGAAAAGATAATGGATATATGGTACATCCAAGAGTGGGATACTACTTAGCAGTAAAATAAATGAATTATTGATCATGCAGCAACATGGATGAATCTCAGAAGCACTATACTAAGTGAAAAGTCAGACACAGAAAGCGGACTTTATTATTTCACTTAAATGACATTCTGGAAAAGGAAAGACTACGCGGAGAGAAATCACACAGTGGTTGCCAGGGGATAAGTGTAGAATAAGGAAATTGACTATAAAGGGAGAACAAGGTAACTTTTTGGGGTTCTAAAGTACTCTGTATCTTGAGCATGGTGG... | pathogenic | 10,898 |
Is the genetic mutation found on chromosome 1 at position 75750527, within the gene ACADM (acyl-CoA dehydrogenase medium chain), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | ATCCGTCAACTAGTGAAAAGATAATGGATATATGGTACATCCAAGAGTGGGATACTACTTAGCAGTAAAATAAATGAATTATTGATCATGCAGCAACATGGATGAATCTCAGAAGCACTATACTAAGTGAAAAGTCAGACACAGAAAGCGGACTTTATTATTTCACTTAAATGACATTCTGGAAAAGGAAAGACTACGCGGAGAGAAATCACACAGTGGTTGCCAGGGGATAAGTGTAGAATAAGGAAATTGACTATAAAGGGAGAACAAGGTAACTTTTTGGGGTTCTAAAGTACTCTGTATCTTGAGCATGGTGGTGG... | ATCCGTCAACTAGTGAAAAGATAATGGATATATGGTACATCCAAGAGTGGGATACTACTTAGCAGTAAAATAAATGAATTATTGATCATGCAGCAACATGGATGAATCTCAGAAGCACTATACTAAGTGAAAAGTCAGACACAGAAAGCGGACTTTATTATTTCACTTAAATGACATTCTGGAAAAGGAAAGACTACGCGGAGAGAAATCACACAGTGGTTGCCAGGGGATAAGTGTAGAATAAGGAAATTGACTATAAAGGGAGAACAAGGTAACTTTTTGGGGTTCTAAAGTACTCTGTATCTTGAGCATGGTGGTGG... | pathogenic | 10,899 |
Variant in ACADM (acyl-CoA dehydrogenase medium chain), chromosome 1, position 75761130—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | TGGACACATCTGAAGGAACAAACTCCAGACACACCATCTTTAAGAGCTGTAACACCGCGAAGGTCTGTGGCTTCATTCTTGAAGTCAGCAAGACCAAGAACCCACTGGAAGGAACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAA... | TGGACACATCTGAAGGAACAAACTCCAGACACACCATCTTTAAGAGCTGTAACACCGCGAAGGTCTGTGGCTTCATTCTTGAAGTCAGCAAGACCAAGAACCCACTGGAAGGAACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAA... | pathogenic | 10,905 |
Is the chromosome 1, position 75761159 variant in ACADM (acyl-CoA dehydrogenase medium chain) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | CACACCATCTTTAAGAGCTGTAACACCGCGAAGGTCTGTGGCTTCATTCTTGAAGTCAGCAAGACCAAGAACCCACTGGAAGGAACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTT... | CACACCATCTTTAAGAGCTGTAACACCGCGAAGGTCTGTGGCTTCATTCTTGAAGTCAGCAAGACCAAGAACCCACTGGAAGGAACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTT... | pathogenic | 10,909 |
Variant at chromosome 1, position 75761173, gene ACADM (acyl-CoA dehydrogenase medium chain): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['ACADM-related_disorder', 'Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | GAGCTGTAACACCGCGAAGGTCTGTGGCTTCATTCTTGAAGTCAGCAAGACCAAGAACCCACTGGAAGGAACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCC... | GAGCTGTAACACCGCGAAGGTCTGTGGCTTCATTCTTGAAGTCAGCAAGACCAAGAACCCACTGGAAGGAACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCC... | pathogenic | 10,911 |
Gene mutation in ACADM (acyl-CoA dehydrogenase medium chain) at chromosome 1, position 75761220—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | AGACCAAGAACCCACTGGAAGGAACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATA... | AGACCAAGAACCCACTGGAAGGAACCAACTCTGGACACACTCTTGGGTGTTCATGGAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATA... | pathogenic | 10,917 |
Gene ACADM (acyl-CoA dehydrogenase medium chain) variant at chromosome position 75761275 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['ACADM-related_disorder', 'Inborn_genetic_diseases', 'Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | GAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAACTAACTCATAGAGCACTTACTATCCCTTATTGAAAGTATTTGTTTTATGTCTTC... | GAGGCTTCATTACATAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAACTAACTCATAGAGCACTTACTATCCCTTATTGAAAGTATTTGTTTTATGTCTTC... | pathogenic | 10,923 |
Variant chromosome 1, position 75761289, gene ACADM (acyl-CoA dehydrogenase medium chain): benign or pathogenic? Disease(s)? | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | TAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAACTAACTCATAGAGCACTTACTATCCCTTATTGAAAGTATTTGTTTTATGTCTTCTATTTAATTCTGAG... | TAGGCATGATTAATTAAACCATTGGTCATTGATGATTTAACTTGACTTGTAGCCCCTCTCCCCTCCCTGGAGGTTGTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAACTAACTCATAGAGCACTTACTATCCCTTATTGAAAGTATTTGTTTTATGTCTTCTATTTAATTCTGAG... | pathogenic | 10,924 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 75761364, gene ACADM (acyl-CoA dehydrogenase medium chain): what disease(s) if pathogenic? | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | GTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAACTAACTCATAGAGCACTTACTATCCCTTATTGAAAGTATTTGTTTTATGTCTTCTATTTAATTCTGAGCCTCTAGAGTCTAAGAAGCATCTTTTAGTTGTCCTTTCCTCTGTCTTGGTATCTGATACAGTGCCACATTATTTT... | GTAGGGTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAACTAACTCATAGAGCACTTACTATCCCTTATTGAAAGTATTTGTTTTATGTCTTCTATTTAATTCTGAGCCTCTAGAGTCTAAGAAGCATCTTTTAGTTGTCCTTTCCTCTGTCTTGGTATCTGATACAGTGCCACATTATTTT... | pathogenic | 10,927 |
Variant at chromosome 1, position 75761369, gene ACADM (acyl-CoA dehydrogenase medium chain): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | GTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAACTAACTCATAGAGCACTTACTATCCCTTATTGAAAGTATTTGTTTTATGTCTTCTATTTAATTCTGAGCCTCTAGAGTCTAAGAAGCATCTTTTAGTTGTCCTTTCCTCTGTCTTGGTATCTGATACAGTGCCACATTATTTTTCTCT... | GTTGGGGCTGAAACTCCCAACCCTCTAATCCTGCCATCGTCTTTCCAGTGACCAGCACCACGCTGAACCTAGCAGACAAAAGACAGCACGTTGGAGATCCCAAGGAATTTAGGAGTTGTATGCCAGGGAACAGGAACATATTTCCATCCTATAACATATCTTGGCCATATAACTAACTCATAGAGCACTTACTATCCCTTATTGAAAGTATTTGTTTTATGTCTTCTATTTAATTCTGAGCCTCTAGAGTCTAAGAAGCATCTTTTAGTTGTCCTTTCCTCTGTCTTGGTATCTGATACAGTGCCACATTATTTTTCTCT... | pathogenic | 10,929 |
The chromosome 1, position 75762716 genetic variant in gene ACADM (acyl-CoA dehydrogenase medium chain): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency'] | ATTGAGGAATTATAATAGCCTGGGAAAGAATAAGAAGAAATAACTAAATTCAACGTATAATGGTGGAAAAAGAACATTAGTAGAAAACTTGACCAGATTTGAGTAAGGCTTATAGTTTAGTTGTTAATACTATACCAGTGTTAATGTCCTGTTCTCGATCATGGCACTATGGTTTGGTAATATGTTAACATTAGAGGAAGCTGGGTGTAACTTCTATAAACCTAAAATTCGTTAATGAAAAGTTTAAAAAATAAAAAGGTCAGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTTGAGAGGCCTAAGTAGGAGGATTG... | ATTGAGGAATTATAATAGCCTGGGAAAGAATAAGAAGAAATAACTAAATTCAACGTATAATGGTGGAAAAAGAACATTAGTAGAAAACTTGACCAGATTTGAGTAAGGCTTATAGTTTAGTTGTTAATACTATACCAGTGTTAATGTCCTGTTCTCGATCATGGCACTATGGTTTGGTAATATGTTAACATTAGAGGAAGCTGGGTGTAACTTCTATAAACCTAAAATTCGTTAATGAAAAGTTTAAAAAATAAAAAGGTCAGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTTGAGAGGCCTAAGTAGGAGGATTG... | pathogenic | 10,934 |
The mutation in gene NEXN (nexilin F-actin binding protein) at chromosome 1, position 77926618—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTGTAAGCTCAATAGCCTGGTCATAAGAGTTTGGTCTGTTATTCAGTTTCTGGGTTACAGAGGGTAGGCTTTATCTTAATTTTTTCTGTTTTTTTTTCTTTTTTTCTTGAAACAGGGTCTCACTCTGTCACTCACACTGGAGTGCAGTGGCATGAACATGGCTCACTGCAGCCTGAACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACCACAGGTGCGTGCCACCATGCCCAGCTAACTTTTGTACTTTTTGTAGAGAAGGGATCTCGCCATGTTGCCCAAGCTGGTCTTGAACTCCTGG... | TTGTAAGCTCAATAGCCTGGTCATAAGAGTTTGGTCTGTTATTCAGTTTCTGGGTTACAGAGGGTAGGCTTTATCTTAATTTTTTCTGTTTTTTTTTCTTTTTTTCTTGAAACAGGGTCTCACTCTGTCACTCACACTGGAGTGCAGTGGCATGAACATGGCTCACTGCAGCCTGAACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACCACAGGTGCGTGCCACCATGCCCAGCTAACTTTTGTACTTTTTGTAGAGAAGGGATCTCGCCATGTTGCCCAAGCTGGTCTTGAACTCCTGG... | benign | 10,982 |
Gene NEXN (nexilin F-actin binding protein) variant at chromosome position 77926630 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TAGCCTGGTCATAAGAGTTTGGTCTGTTATTCAGTTTCTGGGTTACAGAGGGTAGGCTTTATCTTAATTTTTTCTGTTTTTTTTTCTTTTTTTCTTGAAACAGGGTCTCACTCTGTCACTCACACTGGAGTGCAGTGGCATGAACATGGCTCACTGCAGCCTGAACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACCACAGGTGCGTGCCACCATGCCCAGCTAACTTTTGTACTTTTTGTAGAGAAGGGATCTCGCCATGTTGCCCAAGCTGGTCTTGAACTCCTGGGCTCAAATGATC... | TAGCCTGGTCATAAGAGTTTGGTCTGTTATTCAGTTTCTGGGTTACAGAGGGTAGGCTTTATCTTAATTTTTTCTGTTTTTTTTTCTTTTTTTCTTGAAACAGGGTCTCACTCTGTCACTCACACTGGAGTGCAGTGGCATGAACATGGCTCACTGCAGCCTGAACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACCACAGGTGCGTGCCACCATGCCCAGCTAACTTTTGTACTTTTTGTAGAGAAGGGATCTCGCCATGTTGCCCAAGCTGGTCTTGAACTCCTGGGCTCAAATGATC... | benign | 10,983 |
Is the genetic variant on chromosome 1, position 77933478, gene NEXN (nexilin F-actin binding protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Dilated_cardiomyopathy_1CC', 'Hypertrophic_cardiomyopathy_20'] | AAAAAAAAAAAAGAAGCGGTAGAAGAGAAGTAACTGTGAAGATTACTAGACCTAGTCCTTGGGGCAGATTTGTAGGCCAATACTGCCTTTTTACCATGATTCACTAGCGGAAAAAATGCAGGCGAGAAAACTGCATTAAAACAAAACCAAGTTTCCTAAAGACATTTCTAAAGAGAAGAGAGAAAACCTTCCTCTTACATTTATATTGTTTTCTTATCCACAAATAAGTATTGTAATTTATCCAGGAATAAGTATTGTAATTTCATACCATAGCTTAGTTCATGCATATGTAAAATTTAAAAATTTCAGGCAATCTTTGA... | AAAAAAAAAAAAGAAGCGGTAGAAGAGAAGTAACTGTGAAGATTACTAGACCTAGTCCTTGGGGCAGATTTGTAGGCCAATACTGCCTTTTTACCATGATTCACTAGCGGAAAAAATGCAGGCGAGAAAACTGCATTAAAACAAAACCAAGTTTCCTAAAGACATTTCTAAAGAGAAGAGAGAAAACCTTCCTCTTACATTTATATTGTTTTCTTATCCACAAATAAGTATTGTAATTTATCCAGGAATAAGTATTGTAATTTCATACCATAGCTTAGTTCATGCATATGTAAAATTTAAAAATTTCAGGCAATCTTTGA... | pathogenic | 11,003 |
Is the chromosome 1, position 77935810 variant in NEXN (nexilin F-actin binding protein) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | ACATATATTATATATAGACTATACAGTGCCAGCTTCATGGGCATGCACCTTGTGCACTCACAAGACGCCATGTTCAGAAGGCCTTGCATTTGGGGTTTAATGCTGAGGTTACTGTCTTCAAATCCTTTTTGTGGTGTGAACATGGCTCACTGCAGCCTCAACCTCCCATGCTCAAGTGATCCTCATGTCTCAGCCTTCTGTGTAGCTGAGACTTGGGGTGCACGCAGCACCATGTCTGGCTAATTTTTAATTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGT... | ACATATATTATATATAGACTATACAGTGCCAGCTTCATGGGCATGCACCTTGTGCACTCACAAGACGCCATGTTCAGAAGGCCTTGCATTTGGGGTTTAATGCTGAGGTTACTGTCTTCAAATCCTTTTTGTGGTGTGAACATGGCTCACTGCAGCCTCAACCTCCCATGCTCAAGTGATCCTCATGTCTCAGCCTTCTGTGTAGCTGAGACTTGGGGTGCACGCAGCACCATGTCTGGCTAATTTTTAATTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGT... | benign | 11,007 |
Does the genetic variant at chromosome 1, position 77935872, impacting gene NEXN (nexilin F-actin binding protein), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Dilated_cardiomyopathy_1CC', 'Heart_failure', 'Hypertrophic_cardiomyopathy_20'] | AGACGCCATGTTCAGAAGGCCTTGCATTTGGGGTTTAATGCTGAGGTTACTGTCTTCAAATCCTTTTTGTGGTGTGAACATGGCTCACTGCAGCCTCAACCTCCCATGCTCAAGTGATCCTCATGTCTCAGCCTTCTGTGTAGCTGAGACTTGGGGTGCACGCAGCACCATGTCTGGCTAATTTTTAATTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGTTCATTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAACTG... | AGACGCCATGTTCAGAAGGCCTTGCATTTGGGGTTTAATGCTGAGGTTACTGTCTTCAAATCCTTTTTGTGGTGTGAACATGGCTCACTGCAGCCTCAACCTCCCATGCTCAAGTGATCCTCATGTCTCAGCCTTCTGTGTAGCTGAGACTTGGGGTGCACGCAGCACCATGTCTGGCTAATTTTTAATTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGTTCATTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAACTG... | pathogenic | 11,011 |
The chromosome 1, position 92262939 genetic variant in gene GLMN (glomulin, FKBP associated protein): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CTAAACTGCTCTCAGGTCTTCCCTCTCTAAGCAGAGACCAATCTGCTGCCTTTGTATTACTCTGTGTTCCATATCTAACACACCTATCAATCCTAATCAACAAGATTCCTTTTCTTTTTGTCAGGCAAGTCAGATAATCTCTCAAGTAGGTACAGCCTTTCTTGATTACTAAAAAAATAAAAACTCATACCCTACCCTAAGGCCACCTTCCTGAAGTCTCAGGGCCTCTACTGCTGCTGAATTTTATATTGTAGCTTTTCAATTTTTATCACAAGCTCCTTCAGGAATCAGGATTTAGTTTGTGATTTAGAAAGTTCTGG... | CTAAACTGCTCTCAGGTCTTCCCTCTCTAAGCAGAGACCAATCTGCTGCCTTTGTATTACTCTGTGTTCCATATCTAACACACCTATCAATCCTAATCAACAAGATTCCTTTTCTTTTTGTCAGGCAAGTCAGATAATCTCTCAAGTAGGTACAGCCTTTCTTGATTACTAAAAAAATAAAAACTCATACCCTACCCTAAGGCCACCTTCCTGAAGTCTCAGGGCCTCTACTGCTGCTGAATTTTATATTGTAGCTTTTCAATTTTTATCACAAGCTCCTTCAGGAATCAGGATTTAGTTTGTGATTTAGAAAGTTCTGG... | benign | 11,139 |
Is the genetic mutation found on chromosome 1 at position 92263676, within the gene GLMN (glomulin, FKBP associated protein), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['GLMN-related_disorder', 'Glomuvenous_malformation'] | ATATAGATCTATGTATTAGTTAAAATTCAGTGAATATACACTTAAAATTTGAACATTTCATTATGTAAATTTTACTTCAAAGAAAAACTACAGACAAATATTTAATCAATGTAATGAAATACATGCTGAAATATTTCGGAGAAAGTATGCTGACGTCTGCAGTTTACTTTGAAATACATCAAAAAATAGACTGACGGAGTGATAGACAGAGGGTGGAGTGATAGATACATGATGAAGTTAGTACAGTAGAATCATAGACTCTAGGTGGTGGGTAAACCAATGATCACTATAAAATTCTTTCAACTTTGCTGTACATTTGA... | ATATAGATCTATGTATTAGTTAAAATTCAGTGAATATACACTTAAAATTTGAACATTTCATTATGTAAATTTTACTTCAAAGAAAAACTACAGACAAATATTTAATCAATGTAATGAAATACATGCTGAAATATTTCGGAGAAAGTATGCTGACGTCTGCAGTTTACTTTGAAATACATCAAAAAATAGACTGACGGAGTGATAGACAGAGGGTGGAGTGATAGATACATGATGAAGTTAGTACAGTAGAATCATAGACTCTAGGTGGTGGGTAAACCAATGATCACTATAAAATTCTTTCAACTTTGCTGTACATTTGA... | pathogenic | 11,140 |
Chromosome 1, position 92266451, gene GLMN (glomulin, FKBP associated protein): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['GLMN-related_disorder', 'Glomuvenous_malformation', 'likely other unspecified diseases'] | TAGTAGAAATAGGGGAAAAAATATGCCTTAATAATATTTAAGTAATAGTAATACTAGAGATAGAGCAATAACTCACATTAATGTATTCTACATATGAATAAATATACCCTACGAAATAAATTGGTAATTGACACTTTGGCTATGTTCTTACCTTTAATGACATGTCAATTTGATTTTTGATATTTTGAATAATAAAAGCCTCCACACCTGAGTGATTACTTGTATTCAATAAGCACCTTGAAAGCAAAATTACAATAGATGTGAAATTATCCTGGACAGCATTAGAATTAAATGGTGATAAAAGTTTTACAAATTCAAAG... | TAGTAGAAATAGGGGAAAAAATATGCCTTAATAATATTTAAGTAATAGTAATACTAGAGATAGAGCAATAACTCACATTAATGTATTCTACATATGAATAAATATACCCTACGAAATAAATTGGTAATTGACACTTTGGCTATGTTCTTACCTTTAATGACATGTCAATTTGATTTTTGATATTTTGAATAATAAAAGCCTCCACACCTGAGTGATTACTTGTATTCAATAAGCACCTTGAAAGCAAAATTACAATAGATGTGAAATTATCCTGGACAGCATTAGAATTAAATGGTGATAAAAGTTTTACAAATTCAAAG... | pathogenic | 11,141 |
A mutation at chromosome position 92266481 on chromosome 1 in gene GLMN (glomulin, FKBP associated protein): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['GLMN-related_disorder', 'Glomuvenous_malformation'] | ATAATATTTAAGTAATAGTAATACTAGAGATAGAGCAATAACTCACATTAATGTATTCTACATATGAATAAATATACCCTACGAAATAAATTGGTAATTGACACTTTGGCTATGTTCTTACCTTTAATGACATGTCAATTTGATTTTTGATATTTTGAATAATAAAAGCCTCCACACCTGAGTGATTACTTGTATTCAATAAGCACCTTGAAAGCAAAATTACAATAGATGTGAAATTATCCTGGACAGCATTAGAATTAAATGGTGATAAAAGTTTTACAAATTCAAAGAGGCCATGTGTTACTTCTAGGAATAAAAAC... | ATAATATTTAAGTAATAGTAATACTAGAGATAGAGCAATAACTCACATTAATGTATTCTACATATGAATAAATATACCCTACGAAATAAATTGGTAATTGACACTTTGGCTATGTTCTTACCTTTAATGACATGTCAATTTGATTTTTGATATTTTGAATAATAAAAGCCTCCACACCTGAGTGATTACTTGTATTCAATAAGCACCTTGAAAGCAAAATTACAATAGATGTGAAATTATCCTGGACAGCATTAGAATTAAATGGTGATAAAAGTTTTACAAATTCAAAGAGGCCATGTGTTACTTCTAGGAATAAAAAC... | pathogenic | 11,143 |
Evaluate this variant at chromosome 1, position 92271540, gene GLMN (glomulin, FKBP associated protein): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['GLMN-related_disorder', 'Glomuvenous_malformation'] | GCCCTTAAGACAAAATCTTAATACTGTCTTAAGTTTAAAATAAAACAGACTTTGGTGTAAAACCTCCTTGACTCATTTCTGTCTCTCTCGTGAATTATTTGCCTCGCTGTTTTATAAAATAACCAATTAATTAATTAGAGCTTAGCAAAGAAAAGGCAGTCTCCGCTGATCTTAACAAGGACTATTTTAACACTACTATTTCATTTTGAGATACCATCTAAACGATCTTACCTTTGCAAAAAGACTTCAATGTGCCCCATATTAAACTGCAAAAGGTACAATGGGCTAAAATAGAAACAAAACAAATATATATATTATAC... | GCCCTTAAGACAAAATCTTAATACTGTCTTAAGTTTAAAATAAAACAGACTTTGGTGTAAAACCTCCTTGACTCATTTCTGTCTCTCTCGTGAATTATTTGCCTCGCTGTTTTATAAAATAACCAATTAATTAATTAGAGCTTAGCAAAGAAAAGGCAGTCTCCGCTGATCTTAACAAGGACTATTTTAACACTACTATTTCATTTTGAGATACCATCTAAACGATCTTACCTTTGCAAAAAGACTTCAATGTGCCCCATATTAAACTGCAAAAGGTACAATGGGCTAAAATAGAAACAAAACAAATATATATATTATAC... | pathogenic | 11,150 |
Evaluate if the mutation on chromosome 1 at position 92271644 in GLMN (glomulin, FKBP associated protein) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Glomuvenous_malformation'] | CGCTGTTTTATAAAATAACCAATTAATTAATTAGAGCTTAGCAAAGAAAAGGCAGTCTCCGCTGATCTTAACAAGGACTATTTTAACACTACTATTTCATTTTGAGATACCATCTAAACGATCTTACCTTTGCAAAAAGACTTCAATGTGCCCCATATTAAACTGCAAAAGGTACAATGGGCTAAAATAGAAACAAAACAAATATATATATTATACACACACACAGAGATATGTACACACATACATATTGTTATGGGTTGAATTGTATCTCCCCCAAAAAAGATATGTTGGAGTCCTAACCTCTAGTACCTCAGAATTTG... | CGCTGTTTTATAAAATAACCAATTAATTAATTAGAGCTTAGCAAAGAAAAGGCAGTCTCCGCTGATCTTAACAAGGACTATTTTAACACTACTATTTCATTTTGAGATACCATCTAAACGATCTTACCTTTGCAAAAAGACTTCAATGTGCCCCATATTAAACTGCAAAAGGTACAATGGGCTAAAATAGAAACAAAACAAATATATATATTATACACACACACAGAGATATGTACACACATACATATTGTTATGGGTTGAATTGTATCTCCCCCAAAAAAGATATGTTGGAGTCCTAACCTCTAGTACCTCAGAATTTG... | pathogenic | 11,151 |
Variant in GLMN (glomulin, FKBP associated protein), chromosome 1, position 92288956—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glomuvenous_malformation'] | ATTGCAGACTTCCCAGCCTCCAGAACTGTGAACCAATGAATTTCTGTTCATTATAAATCACCCAGTCTTAGGTATTCTGTTATATCAGCACAAATGGATTAAGACAAGCATCAATAACTCAATGGTCTATAAAACTGGTGATGTAACGTCGTTCGTACTAGTAATGGGGAGAACATGAGAACACCTTGCTAGACTCAACATGCTAAGACTGACTTCTACATCTGAACTATTCCATTGAATTCTGAATGTTTGAGGGCTGGTGCTAGTCTATGATGTTGTTTTCATTAGTTCAAAGAAAAAATCAAGAAATACAGTCATTT... | ATTGCAGACTTCCCAGCCTCCAGAACTGTGAACCAATGAATTTCTGTTCATTATAAATCACCCAGTCTTAGGTATTCTGTTATATCAGCACAAATGGATTAAGACAAGCATCAATAACTCAATGGTCTATAAAACTGGTGATGTAACGTCGTTCGTACTAGTAATGGGGAGAACATGAGAACACCTTGCTAGACTCAACATGCTAAGACTGACTTCTACATCTGAACTATTCCATTGAATTCTGAATGTTTGAGGGCTGGTGCTAGTCTATGATGTTGTTTTCATTAGTTCAAAGAAAAAATCAAGAAATACAGTCATTT... | pathogenic | 11,152 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 92288988, gene GLMN (glomulin, FKBP associated protein). What disease(s) is it linked to if pathogenic? | pathogenic; ['Glomuvenous_malformation'] | CCAATGAATTTCTGTTCATTATAAATCACCCAGTCTTAGGTATTCTGTTATATCAGCACAAATGGATTAAGACAAGCATCAATAACTCAATGGTCTATAAAACTGGTGATGTAACGTCGTTCGTACTAGTAATGGGGAGAACATGAGAACACCTTGCTAGACTCAACATGCTAAGACTGACTTCTACATCTGAACTATTCCATTGAATTCTGAATGTTTGAGGGCTGGTGCTAGTCTATGATGTTGTTTTCATTAGTTCAAAGAAAAAATCAAGAAATACAGTCATTTTTTCACACAGCTCTATTTGTTTTATTTAGAAA... | CCAATGAATTTCTGTTCATTATAAATCACCCAGTCTTAGGTATTCTGTTATATCAGCACAAATGGATTAAGACAAGCATCAATAACTCAATGGTCTATAAAACTGGTGATGTAACGTCGTTCGTACTAGTAATGGGGAGAACATGAGAACACCTTGCTAGACTCAACATGCTAAGACTGACTTCTACATCTGAACTATTCCATTGAATTCTGAATGTTTGAGGGCTGGTGCTAGTCTATGATGTTGTTTTCATTAGTTCAAAGAAAAAATCAAGAAATACAGTCATTTTTTCACACAGCTCTATTTGTTTTATTTAGAAA... | pathogenic | 11,153 |
Gene GLMN (glomulin, FKBP associated protein) variant at chromosome 1, position 92297407—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['GLMN-related_disorder', 'Glomuvenous_malformation', 'Inborn_genetic_diseases'] | TAGGTAATTAAAGTCTCACAGATATGTGTCTCAGAGATCTACATCTTAATTCCTCTATCTCTACTGAGCTCAAAACCTTATTTTCCAATTGACTGCTGTACTTAAACTCAAAATTTCTAAAAGTCAACTCACTTGTTCCTTCAGAAAACTTTTCCCTCTACTTAGGTTGCCTTTTTCTGTTTGATATCATATGTTATCCTTTTAGAGGCTAGAAACCCAGTCATTTTTGATGCCTCTCCCTCTCAATCAAGCAATCCCCTGTATTCTACCCTAAAACCATACGCCATACAGCACTAACCAGAGGTAGAGCAGAGTGGTTA... | TAGGTAATTAAAGTCTCACAGATATGTGTCTCAGAGATCTACATCTTAATTCCTCTATCTCTACTGAGCTCAAAACCTTATTTTCCAATTGACTGCTGTACTTAAACTCAAAATTTCTAAAAGTCAACTCACTTGTTCCTTCAGAAAACTTTTCCCTCTACTTAGGTTGCCTTTTTCTGTTTGATATCATATGTTATCCTTTTAGAGGCTAGAAACCCAGTCATTTTTGATGCCTCTCCCTCTCAATCAAGCAATCCCCTGTATTCTACCCTAAAACCATACGCCATACAGCACTAACCAGAGGTAGAGCAGAGTGGTTA... | pathogenic | 11,158 |
Variant at chromosome 1, position 92297534, gene GLMN (glomulin, FKBP associated protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CTCACTTGTTCCTTCAGAAAACTTTTCCCTCTACTTAGGTTGCCTTTTTCTGTTTGATATCATATGTTATCCTTTTAGAGGCTAGAAACCCAGTCATTTTTGATGCCTCTCCCTCTCAATCAAGCAATCCCCTGTATTCTACCCTAAAACCATACGCCATACAGCACTAACCAGAGGTAGAGCAGAGTGGTTAGGAGCTCCAAAACCATGCTACACAGGTCTGAATCTTGGATGTTACATAAAAGCTGACTTACTTTTGGGCAAGTCATTTAACTTTTCAGTTACAAAATGAACACCTACCTTCTGAGATTTTGGAGAGA... | CTCACTTGTTCCTTCAGAAAACTTTTCCCTCTACTTAGGTTGCCTTTTTCTGTTTGATATCATATGTTATCCTTTTAGAGGCTAGAAACCCAGTCATTTTTGATGCCTCTCCCTCTCAATCAAGCAATCCCCTGTATTCTACCCTAAAACCATACGCCATACAGCACTAACCAGAGGTAGAGCAGAGTGGTTAGGAGCTCCAAAACCATGCTACACAGGTCTGAATCTTGGATGTTACATAAAAGCTGACTTACTTTTGGGCAAGTCATTTAACTTTTCAGTTACAAAATGAACACCTACCTTCTGAGATTTTGGAGAGA... | benign | 11,161 |
Variant at chromosome position 92478757, chromosome 1, gene GFI1 (growth factor independent 1 transcriptional repressor): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AGCAGATTATATCTGAAAAAACATCTTAACATGGACTTTCTTTCTTTCTTTATTTCTCTCTCTCTCTCTCTTTCTTTCTAAGTTCCGGGGTACATGTGCAGGATACGTTTTTCAATATCTTATTTTAAAAATCCACATTTGGGCCACAAAGGATTAAGGCAGCTGATACTTTACTGTCTTGATTTTTCCTTAATTTTATGGGGTTAATCACATGATTCTTTATATACCAGCAATTCTTCACCACAAATTAATAAATAAGAGAACACAAGAAGGTTTTGTCTTGTTCCCCATCTCATGTGTTGTTGGGTAAATGGCATGAA... | AGCAGATTATATCTGAAAAAACATCTTAACATGGACTTTCTTTCTTTCTTTATTTCTCTCTCTCTCTCTCTTTCTTTCTAAGTTCCGGGGTACATGTGCAGGATACGTTTTTCAATATCTTATTTTAAAAATCCACATTTGGGCCACAAAGGATTAAGGCAGCTGATACTTTACTGTCTTGATTTTTCCTTAATTTTATGGGGTTAATCACATGATTCTTTATATACCAGCAATTCTTCACCACAAATTAATAAATAAGAGAACACAAGAAGGTTTTGTCTTGTTCCCCATCTCATGTGTTGTTGGGTAAATGGCATGAA... | benign | 11,177 |
Benign or pathogenic: chromosome 1, position 92478757, gene GFI1 (growth factor independent 1 transcriptional repressor) variant? Disease(s) if pathogenic? | benign | AGCAGATTATATCTGAAAAAACATCTTAACATGGACTTTCTTTCTTTCTTTATTTCTCTCTCTCTCTCTCTTTCTTTCTAAGTTCCGGGGTACATGTGCAGGATACGTTTTTCAATATCTTATTTTAAAAATCCACATTTGGGCCACAAAGGATTAAGGCAGCTGATACTTTACTGTCTTGATTTTTCCTTAATTTTATGGGGTTAATCACATGATTCTTTATATACCAGCAATTCTTCACCACAAATTAATAAATAAGAGAACACAAGAAGGTTTTGTCTTGTTCCCCATCTCATGTGTTGTTGGGTAAATGGCATGAA... | AGCAGATTATATCTGAAAAAACATCTTAACATGGACTTTCTTTCTTTCTTTATTTCTCTCTCTCTCTCTCTTTCTTTCTAAGTTCCGGGGTACATGTGCAGGATACGTTTTTCAATATCTTATTTTAAAAATCCACATTTGGGCCACAAAGGATTAAGGCAGCTGATACTTTACTGTCTTGATTTTTCCTTAATTTTATGGGGTTAATCACATGATTCTTTATATACCAGCAATTCTTCACCACAAATTAATAAATAAGAGAACACAAGAAGGTTTTGTCTTGTTCCCCATCTCATGTGTTGTTGGGTAAATGGCATGAA... | benign | 11,178 |
Considering the genetic mutation at chromosome 1, position 92478757, impacting GFI1 (growth factor independent 1 transcriptional repressor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGCAGATTATATCTGAAAAAACATCTTAACATGGACTTTCTTTCTTTCTTTATTTCTCTCTCTCTCTCTCTTTCTTTCTAAGTTCCGGGGTACATGTGCAGGATACGTTTTTCAATATCTTATTTTAAAAATCCACATTTGGGCCACAAAGGATTAAGGCAGCTGATACTTTACTGTCTTGATTTTTCCTTAATTTTATGGGGTTAATCACATGATTCTTTATATACCAGCAATTCTTCACCACAAATTAATAAATAAGAGAACACAAGAAGGTTTTGTCTTGTTCCCCATCTCATGTGTTGTTGGGTAAATGGCATGAA... | AGCAGATTATATCTGAAAAAACATCTTAACATGGACTTTCTTTCTTTCTTTATTTCTCTCTCTCTCTCTCTTTCTTTCTAAGTTCCGGGGTACATGTGCAGGATACGTTTTTCAATATCTTATTTTAAAAATCCACATTTGGGCCACAAAGGATTAAGGCAGCTGATACTTTACTGTCTTGATTTTTCCTTAATTTTATGGGGTTAATCACATGATTCTTTATATACCAGCAATTCTTCACCACAAATTAATAAATAAGAGAACACAAGAAGGTTTTGTCTTGTTCCCCATCTCATGTGTTGTTGGGTAAATGGCATGAA... | benign | 11,179 |
Variant on chromosome 1, at position 92478757, affecting GFI1 (growth factor independent 1 transcriptional repressor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AGCAGATTATATCTGAAAAAACATCTTAACATGGACTTTCTTTCTTTCTTTATTTCTCTCTCTCTCTCTCTTTCTTTCTAAGTTCCGGGGTACATGTGCAGGATACGTTTTTCAATATCTTATTTTAAAAATCCACATTTGGGCCACAAAGGATTAAGGCAGCTGATACTTTACTGTCTTGATTTTTCCTTAATTTTATGGGGTTAATCACATGATTCTTTATATACCAGCAATTCTTCACCACAAATTAATAAATAAGAGAACACAAGAAGGTTTTGTCTTGTTCCCCATCTCATGTGTTGTTGGGTAAATGGCATGAA... | AGCAGATTATATCTGAAAAAACATCTTAACATGGACTTTCTTTCTTTCTTTATTTCTCTCTCTCTCTCTCTTTCTTTCTAAGTTCCGGGGTACATGTGCAGGATACGTTTTTCAATATCTTATTTTAAAAATCCACATTTGGGCCACAAAGGATTAAGGCAGCTGATACTTTACTGTCTTGATTTTTCCTTAATTTTATGGGGTTAATCACATGATTCTTTATATACCAGCAATTCTTCACCACAAATTAATAAATAAGAGAACACAAGAAGGTTTTGTCTTGTTCCCCATCTCATGTGTTGTTGGGTAAATGGCATGAA... | benign | 11,180 |
Variant in gene GFI1 (growth factor independent 1 transcriptional repressor), located at chromosome 1 position 92478759: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CAGATTATATCTGAAAAAACATCTTAACATGGACTTTCTTTCTTTCTTTATTTCTCTCTCTCTCTCTCTTTCTTTCTAAGTTCCGGGGTACATGTGCAGGATACGTTTTTCAATATCTTATTTTAAAAATCCACATTTGGGCCACAAAGGATTAAGGCAGCTGATACTTTACTGTCTTGATTTTTCCTTAATTTTATGGGGTTAATCACATGATTCTTTATATACCAGCAATTCTTCACCACAAATTAATAAATAAGAGAACACAAGAAGGTTTTGTCTTGTTCCCCATCTCATGTGTTGTTGGGTAAATGGCATGAATT... | CAGATTATATCTGAAAAAACATCTTAACATGGACTTTCTTTCTTTCTTTATTTCTCTCTCTCTCTCTCTTTCTTTCTAAGTTCCGGGGTACATGTGCAGGATACGTTTTTCAATATCTTATTTTAAAAATCCACATTTGGGCCACAAAGGATTAAGGCAGCTGATACTTTACTGTCTTGATTTTTCCTTAATTTTATGGGGTTAATCACATGATTCTTTATATACCAGCAATTCTTCACCACAAATTAATAAATAAGAGAACACAAGAAGGTTTTGTCTTGTTCCCCATCTCATGTGTTGTTGGGTAAATGGCATGAATT... | benign | 11,181 |
Does the chromosome 1 mutation at position 92483343 within gene GFI1 (growth factor independent 1 transcriptional repressor) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TAAACAGATCATTGAAAAGACCTCGGGAGAGGAGGTCGTAAATTCTGTGCGAGTGCAGCGGAGGCGCTCGGCGTTCCGAGGATCTTTTCTGGCTGGACCCGCGCACCTGGAGATCCTACAGGGAAGGGCGCATCTATAAATGCCCGTAGTTGAGCTGTTAAGAAGGAGAAGGTGGCGGCCGTTCGGCCCCTCACAGCACTCAAGGGCGGAAGGGTCCAGCCACCAGCGCAGGCACTCTCCCAGCCCCTACATGTTCCCATTCAATTCTTTTTCTTCCCAGAATCCAAGAGGAAGGAGGGAGAAGGTCCATAAATGCGGCC... | TAAACAGATCATTGAAAAGACCTCGGGAGAGGAGGTCGTAAATTCTGTGCGAGTGCAGCGGAGGCGCTCGGCGTTCCGAGGATCTTTTCTGGCTGGACCCGCGCACCTGGAGATCCTACAGGGAAGGGCGCATCTATAAATGCCCGTAGTTGAGCTGTTAAGAAGGAGAAGGTGGCGGCCGTTCGGCCCCTCACAGCACTCAAGGGCGGAAGGGTCCAGCCACCAGCGCAGGCACTCTCCCAGCCCCTACATGTTCCCATTCAATTCTTTTTCTTCCCAGAATCCAAGAGGAAGGAGGGAGAAGGTCCATAAATGCGGCC... | benign | 11,217 |
Evaluate the clinical significance of the mutation at chromosome 1, position 92833591 in gene RPL5: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Diamond-Blackfan_anemia_6'] | AGCCAGTAGAAAGCTGCTGTAGGAAGGCAGAGGAGTGGCCCCTATCCCAGGCTTGGGGCTCTCAGGGAAGGCTTCCTGGGGGTGAGATGGGAGGGTGGGTCCATATGCTCTTGGACCAGAATGAGTAGCCCAGAGAAGGCAAGAGGGCTCCCAAGCAAACTTGTCCTATTTAATTTTTTTTTTTTTTCCTGCTTAGAAAAGCAAAATGCGTTATGAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACGCTGTAGCAAAGAAAGCGAAAGGCTCCAGTAATCCTCCCTGCTCCTCCTCAC... | AGCCAGTAGAAAGCTGCTGTAGGAAGGCAGAGGAGTGGCCCCTATCCCAGGCTTGGGGCTCTCAGGGAAGGCTTCCTGGGGGTGAGATGGGAGGGTGGGTCCATATGCTCTTGGACCAGAATGAGTAGCCCAGAGAAGGCAAGAGGGCTCCCAAGCAAACTTGTCCTATTTAATTTTTTTTTTTTTTCCTGCTTAGAAAAGCAAAATGCGTTATGAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACGCTGTAGCAAAGAAAGCGAAAGGCTCCAGTAATCCTCCCTGCTCCTCCTCAC... | pathogenic | 11,247 |
Classify the chromosome 1 variant at position 92833624 affecting gene RPL5 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Diamond-Blackfan_anemia_6'] | AGTGGCCCCTATCCCAGGCTTGGGGCTCTCAGGGAAGGCTTCCTGGGGGTGAGATGGGAGGGTGGGTCCATATGCTCTTGGACCAGAATGAGTAGCCCAGAGAAGGCAAGAGGGCTCCCAAGCAAACTTGTCCTATTTAATTTTTTTTTTTTTTCCTGCTTAGAAAAGCAAAATGCGTTATGAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACGCTGTAGCAAAGAAAGCGAAAGGCTCCAGTAATCCTCCCTGCTCCTCCTCACCGCACGGATCCTGTGAGATACCCCGAGCATTGG... | AGTGGCCCCTATCCCAGGCTTGGGGCTCTCAGGGAAGGCTTCCTGGGGGTGAGATGGGAGGGTGGGTCCATATGCTCTTGGACCAGAATGAGTAGCCCAGAGAAGGCAAGAGGGCTCCCAAGCAAACTTGTCCTATTTAATTTTTTTTTTTTTTCCTGCTTAGAAAAGCAAAATGCGTTATGAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACGCTGTAGCAAAGAAAGCGAAAGGCTCCAGTAATCCTCCCTGCTCCTCCTCACCGCACGGATCCTGTGAGATACCCCGAGCATTGG... | pathogenic | 11,249 |
A genetic variant at chromosome 1, position 92833636, affecting gene RPL5—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Diamond-Blackfan_anemia', 'Diamond-Blackfan_anemia_1', 'Diamond-Blackfan_anemia_6'] | CCCAGGCTTGGGGCTCTCAGGGAAGGCTTCCTGGGGGTGAGATGGGAGGGTGGGTCCATATGCTCTTGGACCAGAATGAGTAGCCCAGAGAAGGCAAGAGGGCTCCCAAGCAAACTTGTCCTATTTAATTTTTTTTTTTTTTCCTGCTTAGAAAAGCAAAATGCGTTATGAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACGCTGTAGCAAAGAAAGCGAAAGGCTCCAGTAATCCTCCCTGCTCCTCCTCACCGCACGGATCCTGTGAGATACCCCGAGCATTGGAACCTGGAGAGC... | CCCAGGCTTGGGGCTCTCAGGGAAGGCTTCCTGGGGGTGAGATGGGAGGGTGGGTCCATATGCTCTTGGACCAGAATGAGTAGCCCAGAGAAGGCAAGAGGGCTCCCAAGCAAACTTGTCCTATTTAATTTTTTTTTTTTTTCCTGCTTAGAAAAGCAAAATGCGTTATGAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACGCTGTAGCAAAGAAAGCGAAAGGCTCCAGTAATCCTCCCTGCTCCTCCTCACCGCACGGATCCTGTGAGATACCCCGAGCATTGGAACCTGGAGAGC... | pathogenic | 11,252 |
Evaluate this variant at chromosome 1, position 92833642, gene RPL5: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Diamond-Blackfan_anemia', 'Diamond-Blackfan_anemia_6'] | CTTGGGGCTCTCAGGGAAGGCTTCCTGGGGGTGAGATGGGAGGGTGGGTCCATATGCTCTTGGACCAGAATGAGTAGCCCAGAGAAGGCAAGAGGGCTCCCAAGCAAACTTGTCCTATTTAATTTTTTTTTTTTTTCCTGCTTAGAAAAGCAAAATGCGTTATGAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACGCTGTAGCAAAGAAAGCGAAAGGCTCCAGTAATCCTCCCTGCTCCTCCTCACCGCACGGATCCTGTGAGATACCCCGAGCATTGGAACCTGGAGAGCTTGGGC... | CTTGGGGCTCTCAGGGAAGGCTTCCTGGGGGTGAGATGGGAGGGTGGGTCCATATGCTCTTGGACCAGAATGAGTAGCCCAGAGAAGGCAAGAGGGCTCCCAAGCAAACTTGTCCTATTTAATTTTTTTTTTTTTTCCTGCTTAGAAAAGCAAAATGCGTTATGAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACGCTGTAGCAAAGAAAGCGAAAGGCTCCAGTAATCCTCCCTGCTCCTCCTCACCGCACGGATCCTGTGAGATACCCCGAGCATTGGAACCTGGAGAGCTTGGGC... | pathogenic | 11,253 |
Chromosome 1, position 92833646, gene RPL5: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Diamond-Blackfan_anemia', 'Diamond-Blackfan_anemia_6'] | GGGCTCTCAGGGAAGGCTTCCTGGGGGTGAGATGGGAGGGTGGGTCCATATGCTCTTGGACCAGAATGAGTAGCCCAGAGAAGGCAAGAGGGCTCCCAAGCAAACTTGTCCTATTTAATTTTTTTTTTTTTTCCTGCTTAGAAAAGCAAAATGCGTTATGAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACGCTGTAGCAAAGAAAGCGAAAGGCTCCAGTAATCCTCCCTGCTCCTCCTCACCGCACGGATCCTGTGAGATACCCCGAGCATTGGAACCTGGAGAGCTTGGGCAGGC... | GGGCTCTCAGGGAAGGCTTCCTGGGGGTGAGATGGGAGGGTGGGTCCATATGCTCTTGGACCAGAATGAGTAGCCCAGAGAAGGCAAGAGGGCTCCCAAGCAAACTTGTCCTATTTAATTTTTTTTTTTTTTCCTGCTTAGAAAAGCAAAATGCGTTATGAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACGCTGTAGCAAAGAAAGCGAAAGGCTCCAGTAATCCTCCCTGCTCCTCCTCACCGCACGGATCCTGTGAGATACCCCGAGCATTGGAACCTGGAGAGCTTGGGCAGGC... | pathogenic | 11,254 |
Is the variant located on chromosome 1 at position 92840649, gene RPL5, benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TGGCCTCTATCCTCCTGTGTGCCTGCTGAAATCCTGTGCAGACATCTGATGTGTCTCCAACAGGAGGTGGTCTTTACCTCAATTCAGGCATTATCTACATGTCTGCTTGTCTGACGTCTTGGAAGGAACTGGGTTGCTTAGATTTGTTGAATGACTATATATGAAGTCATCAAATGGATTTGTTATTTGTTAGTGAACAGCTAGCTATAATAGAGTGCTAAAAGAGGTAGGGAAATTAACTTTCAAAATGGGTATAGGTAGTTGAGGTTTCAAATGCAGTGAGCATTTTTGCATTATTTTCCTTTAATAATCTTTATGCA... | TGGCCTCTATCCTCCTGTGTGCCTGCTGAAATCCTGTGCAGACATCTGATGTGTCTCCAACAGGAGGTGGTCTTTACCTCAATTCAGGCATTATCTACATGTCTGCTTGTCTGACGTCTTGGAAGGAACTGGGTTGCTTAGATTTGTTGAATGACTATATATGAAGTCATCAAATGGATTTGTTATTTGTTAGTGAACAGCTAGCTATAATAGAGTGCTAAAAGAGGTAGGGAAATTAACTTTCAAAATGGGTATAGGTAGTTGAGGTTTCAAATGCAGTGAGCATTTTTGCATTATTTTCCTTTAATAATCTTTATGCA... | benign | 11,270 |
Variant at chromosome 1, position 92840649, gene RPL5: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TGGCCTCTATCCTCCTGTGTGCCTGCTGAAATCCTGTGCAGACATCTGATGTGTCTCCAACAGGAGGTGGTCTTTACCTCAATTCAGGCATTATCTACATGTCTGCTTGTCTGACGTCTTGGAAGGAACTGGGTTGCTTAGATTTGTTGAATGACTATATATGAAGTCATCAAATGGATTTGTTATTTGTTAGTGAACAGCTAGCTATAATAGAGTGCTAAAAGAGGTAGGGAAATTAACTTTCAAAATGGGTATAGGTAGTTGAGGTTTCAAATGCAGTGAGCATTTTTGCATTATTTTCCTTTAATAATCTTTATGCA... | TGGCCTCTATCCTCCTGTGTGCCTGCTGAAATCCTGTGCAGACATCTGATGTGTCTCCAACAGGAGGTGGTCTTTACCTCAATTCAGGCATTATCTACATGTCTGCTTGTCTGACGTCTTGGAAGGAACTGGGTTGCTTAGATTTGTTGAATGACTATATATGAAGTCATCAAATGGATTTGTTATTTGTTAGTGAACAGCTAGCTATAATAGAGTGCTAAAAGAGGTAGGGAAATTAACTTTCAAAATGGGTATAGGTAGTTGAGGTTTCAAATGCAGTGAGCATTTTTGCATTATTTTCCTTTAATAATCTTTATGCA... | benign | 11,271 |
Determine whether the variant at chromosome 1, position 93997841, in gene ABCA4 (ATP binding cassette subfamily A member 4) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Age_related_macular_degeneration_2', 'Cone-rod_dystrophy_3', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_19', 'Severe_early-childhood-onset_retinal_dystrophy'] | CTTTTTTGCTGTAAGCAAAAACATGGGAAAGTTCTTTTCAAAAATGCTCTCCCATGCTATCCAGATGGTTTCCTGATTACAATAGGAACCCCTACAACTACTGAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGG... | CTTTTTTGCTGTAAGCAAAAACATGGGAAAGTTCTTTTCAAAAATGCTCTCCCATGCTATCCAGATGGTTTCCTGATTACAATAGGAACCCCTACAACTACTGAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGG... | pathogenic | 11,299 |
Clinically, how would you classify the variant at chromosome 1, position 93997884, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Age_related_macular_degeneration_2', 'Cone-rod_dystrophy_3', 'Retinitis_pigmentosa_19', 'Severe_early-childhood-onset_retinal_dystrophy'] | ATGCTCTCCCATGCTATCCAGATGGTTTCCTGATTACAATAGGAACCCCTACAACTACTGAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGT... | ATGCTCTCCCATGCTATCCAGATGGTTTCCTGATTACAATAGGAACCCCTACAACTACTGAATGAAAAGTTCTTCAGCACAGAACACACAGTGGCAGGGACTTAGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGT... | pathogenic | 11,301 |
Variant chromosome 1, position 93997987, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? Disease(s)? | pathogenic; ['Retinal_dystrophy'] | AGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGCGAGATTAGGTAGATATTTCCAGGAAAACAGCACCCTACACCCAC... | AGCAAGGATGTGATGAGGATGTGGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGCGAGATTAGGTAGATATTTCCAGGAAAACAGCACCCTACACCCAC... | pathogenic | 11,305 |
Determine if the mutation at chromosome 1, position 93998009 in gene ABCA4 (ATP binding cassette subfamily A member 4) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinal_dystrophy'] | GGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGCGAGATTAGGTAGATATTTCCAGGAAAACAGCACCCTACACCCACCTACCCACTTTGCTCTCTATTT... | GGTGGGGACTTGGTAGGGACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGCGAGATTAGGTAGATATTTCCAGGAAAACAGCACCCTACACCCACCTACCCACTTTGCTCTCTATTT... | pathogenic | 11,306 |
Determine whether the variant at chromosome 1, position 94000843, in gene ABCA4 (ATP binding cassette subfamily A member 4) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Severe_early-childhood-onset_retinal_dystrophy'] | GTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTC... | GTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTC... | pathogenic | 11,317 |
Clinical classification of chromosome 1, position 94001102, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy'] | TTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGG... | TTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGG... | pathogenic | 11,333 |
The genetic variant at chromosome 1, position 94001900, affecting gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Severe_early-childhood-onset_retinal_dystrophy'] | GGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTA... | GGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTA... | pathogenic | 11,343 |
Variant on chromosome 1, at position 94001952, affecting ABCA4 (ATP binding cassette subfamily A member 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | TATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAG... | TATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAG... | pathogenic | 11,351 |
Evaluate the clinical significance of the mutation at chromosome 1, position 94001955 in gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cone-rod_dystrophy_3', 'Stargardt_disease'] | AGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAAC... | AGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAAC... | pathogenic | 11,352 |
The genetic variant at chromosome 1, position 94005441, affecting gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_19', 'Severe_early-childhood-onset_retinal_dystrophy', 'Stargardt_disease'] | GTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGC... | GTCAGATGTTTCCTCATGATAAGATTCAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGC... | pathogenic | 11,356 |
Considering the variant on chromosome 1, location 94007675, involving gene ABCA4 (ATP binding cassette subfamily A member 4), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Age_related_macular_degeneration_2', 'Cone-rod_dystrophy_3', 'Retinitis_pigmentosa_19', 'Severe_early-childhood-onset_retinal_dystrophy'] | GGGATGACCATAGAGCTAGGGCTGGAGAAGCTTCTGCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGA... | GGGATGACCATAGAGCTAGGGCTGGAGAAGCTTCTGCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGA... | pathogenic | 11,372 |
Clinical classification of chromosome 1, position 94007721, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['ABCA4-related_disorder', 'Age_related_macular_degeneration_2', 'Autosomal_recessive_retinitis_pigmentosa', 'Retinal_dystrophy', 'Retinitis_pigmentosa_19', 'Severe_early-childhood-onset_retinal_dystrophy', 'maculopathy'] | AAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTT... | AAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTT... | pathogenic | 11,379 |
Clinical significance of chromosome 1, position 94007741, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy'] | TCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGA... | TCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGCAAAGATAGCAATGA... | pathogenic | 11,380 |
Does the chromosome 1 mutation at position 94008289 within gene ABCA4 (ATP binding cassette subfamily A member 4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | AGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAG... | AGACCATTACAGTTCCCCACAATGACAAAAGCCACCAAAGGCATGGCTGGGCCAATTAAAACTACTCAGGGAAGCAAGTAGGGTACGTTTCCAAATTAGTGGGAGCTACCCTACCATATAATCCCAATTCTGTGTCTTAAGCCTATAGTTTCTTTCTAGCGTCCAGCTCAGTTTTACCTTCTGGATGTCAGACTGTGCCTCACTTGGACACAGTTGTAACTTGATGTCTCATAAATGTGCTCATGGAAAATTCTATGATATCTTTCCCCTGCCATGGTATGATATCTCTACCCTGCCATGACTCCTTTTGTCACCATGAG... | benign | 11,388 |
Variant chromosome 1, position 94010858, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? Disease(s)? | pathogenic; ['Age_related_macular_degeneration_2'] | GTCTTTCTTCAGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTG... | GTCTTTCTTCAGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTG... | pathogenic | 11,404 |
Clinical significance of chromosome 1, position 94010876, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_19', 'Severe_early-childhood-onset_retinal_dystrophy'] | CATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAAC... | CATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTTCAAC... | pathogenic | 11,407 |
Evaluate the clinical significance of the mutation at chromosome 1, position 94014549 in gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Severe_early-childhood-onset_retinal_dystrophy'] | GGGCCCCTGGAGGGTGGGCACTGAGTCCTAATTATTTTTTTGTCCTTCCTAAATACCTGCACAATGATTAGCTCAGAGTAGGCACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCT... | GGGCCCCTGGAGGGTGGGCACTGAGTCCTAATTATTTTTTTGTCCTTCCTAAATACCTGCACAATGATTAGCTCAGAGTAGGCACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCT... | pathogenic | 11,428 |
Variant at chromosome position 94014631, chromosome 1, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Severe_early-childhood-onset_retinal_dystrophy'] | CACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTG... | CACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTG... | pathogenic | 11,435 |
Does the variant impacting ABCA4 (ATP binding cassette subfamily A member 4) on chromosome 1, position 94015761, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinal_dystrophy'] | AAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTA... | AAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTA... | pathogenic | 11,446 |
Does the variant on chromosome 1 at location 94015818 affecting gene ABCA4 (ATP binding cassette subfamily A member 4) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Retinal_dystrophy'] | CAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAA... | CAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGCAAAGCTTAA... | pathogenic | 11,447 |
Gene ABCA4 (ATP binding cassette subfamily A member 4) variant at chromosome position 94019575 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinitis_pigmentosa'] | ATGTCATGCATGATTCTGAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACT... | ATGTCATGCATGATTCTGAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACT... | pathogenic | 11,455 |
Does the genetic variant at chromosome 1, position 94019602, impacting gene ABCA4 (ATP binding cassette subfamily A member 4), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Age_related_macular_degeneration_2', 'Retinal_disorder', 'Retinal_dystrophy', 'Visual_impairment'] | CTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAA... | CTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAA... | pathogenic | 11,460 |
Gene mutation in ABCA4 (ATP binding cassette subfamily A member 4) at chromosome 1, position 94019615—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Retinal_dystrophy', 'Severe_early-childhood-onset_retinal_dystrophy'] | GACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATA... | GACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATA... | pathogenic | 11,463 |
Variant in ABCA4 (ATP binding cassette subfamily A member 4), chromosome 1, position 94019640—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cone-rod_dystrophy_3', 'Retinal_dystrophy'] | GAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGT... | GAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGT... | pathogenic | 11,465 |
Is the chromosome 1, position 94019719 variant in ABCA4 (ATP binding cassette subfamily A member 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Age_related_macular_degeneration_2', 'Cone-rod_dystrophy', 'Cone-rod_dystrophy_3', 'Retinal_dystrophy', 'Retinitis_pigmentosa_19', 'Severe_early-childhood-onset_retinal_dystrophy', 'Stargardt_disease'] | TATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAA... | TATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATGGTGGTCCTAA... | pathogenic | 11,467 |
Evaluate if the mutation on chromosome 1 at position 94021241 in ABCA4 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Age_related_macular_degeneration_2', 'Cone-rod_dystrophy_3', 'Retinitis_pigmentosa_19', 'Severe_early-childhood-onset_retinal_dystrophy'] | GGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTC... | GGGGCAGGATTTGAGAAGGGGACTTGGGGTGAAAGACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTC... | pathogenic | 11,472 |
Located at chromosome 1 position 94021276, the variant affecting gene ABCA4—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cone-rod_dystrophy_3', 'Retinal_dystrophy'] | ACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCAC... | ACCCCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCAC... | pathogenic | 11,473 |
Is chromosome 1, position 94021310, gene ABCA4 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic | TGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTAC... | TGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTAC... | pathogenic | 11,475 |
Is the variant located on chromosome 1 at position 94021330, gene ABCA4, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Retinal_dystrophy'] | TGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGG... | TGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGG... | pathogenic | 11,476 |
Regarding the variant found on chromosome 1 at position 94021377 in gene ABCA4: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['ABCA4-related_disorder', 'Retinal_dystrophy', 'Severe_early-childhood-onset_retinal_dystrophy'] | CAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGC... | CAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGC... | pathogenic | 11,480 |
Chromosome 1, position 94021649, gene ABCA4: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinal_dystrophy', 'Severe_early-childhood-onset_retinal_dystrophy'] | GTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTT... | GTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTT... | pathogenic | 11,489 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 94021701, gene ABCA4: what disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa'] | ATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTC... | ATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTC... | pathogenic | 11,491 |
Is the genetic mutation found on chromosome 1 at position 94021729, within the gene ABCA4, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTT... | AAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTT... | benign | 11,492 |
Assess the variant on chromosome 1, position 94021900, impacting ABCA4: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Retinal_dystrophy'] | CACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTT... | CACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTCTATTTCATGTGAATATTTCTAGACAACCTTTCTTTTTATTATATTCTCTAATTATTTTTATGGTGTATAGAAATAGATGTTTATATTAATCTTATGTACTGCAATGCTCTCATTAGCTCTAATAATCTGTCTATAGAGTCTCTTGAATTTTCTATGTTGACAGACATACGGTCTGTGAGATTTATCTTTTGTTAATAATCATCTT... | pathogenic | 11,499 |
Clinical significance of chromosome 1, position 94023388, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy'] | GTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGTTT... | GTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGTTT... | pathogenic | 11,505 |
Considering the variant on chromosome 1, location 94024952, involving gene ABCA4 (ATP binding cassette subfamily A member 4), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Retinal_dystrophy'] | GAGGCTGGGAGGCAGCAGGCTCCTAGAGTCCCACTTGGTGAGGTTCTAAACCTCTGGAAATATTTCAACCTCCAGGATGCCTCAGGAATGGGGTGAGTCTGGGGCTGGCCCACACTCCCTGAAGCTTAAAAGGAATGGGCCAAGGAGTGTCCCGGGTTTAGGCTACAAGGCCCTCTTGTTGGAGTATTATAAACTGTTATATACTTGGAGGTTTTAGAAGCTTTTTTTGGGTGAGAATGCTCTGAAACGCCACATCAGGGAATGCCACCCCCACTTATGTCCTCCAAGAAGAGGCACCACTGAGTGTCTTCTGAGTCTGG... | GAGGCTGGGAGGCAGCAGGCTCCTAGAGTCCCACTTGGTGAGGTTCTAAACCTCTGGAAATATTTCAACCTCCAGGATGCCTCAGGAATGGGGTGAGTCTGGGGCTGGCCCACACTCCCTGAAGCTTAAAAGGAATGGGCCAAGGAGTGTCCCGGGTTTAGGCTACAAGGCCCTCTTGTTGGAGTATTATAAACTGTTATATACTTGGAGGTTTTAGAAGCTTTTTTTGGGTGAGAATGCTCTGAAACGCCACATCAGGGAATGCCACCCCCACTTATGTCCTCCAAGAAGAGGCACCACTGAGTGTCTTCTGAGTCTGG... | pathogenic | 11,506 |
Considering the variant on chromosome 1, location 94029446, involving gene ABCA4 (ATP binding cassette subfamily A member 4), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cone-rod_dystrophy', 'Cone-rod_dystrophy_3', 'Macular_dystrophy', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_19', 'Severe_early-childhood-onset_retinal_dystrophy'] | TGACGTCCTGATGCTGGAGGGTTTTGAGTGGAGGCAGCCACAGGAGCCCTCAGCATTGACAGCAAAGCAAACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCC... | TGACGTCCTGATGCTGGAGGGTTTTGAGTGGAGGCAGCCACAGGAGCCCTCAGCATTGACAGCAAAGCAAACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCC... | pathogenic | 11,515 |
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