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 |
|---|---|---|---|---|---|
Determine whether the variant at chromosome 15, position 93014769, in gene CHD2 (chromodomain helicase DNA binding protein 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['CHD2-related_disorder', 'Developmental_and_epileptic_encephalopathy_94', 'Inborn_genetic_diseases'] | TCAGTAGCTTATAAATGTGGCTCCTAGGAAGTAATAGGGTGGTGGGCAGAAAATACTTTTTCTCTTCTTTTCTGGACCATCTATTTGGTGTCCTTCCAGCTTTTGTATGGAAGGGGTCCTGCTACTCACTTGTGAGAGGTGCTCAGAAGTTGCCTCTCCTTTGGAATAGGGGGATGGGTGCAGAAGTGACATGGAGGAGGCTGCAGAGGCAGTGCTCCTTGTGTGGGTGTGCCCATTTGCAGATCTGCTGACTTGCCACATGGGCTGTACCCAAGTTGGACATTGAGTTCAATCTGTGAGCATTAAATACCACCTCCACT... | TCAGTAGCTTATAAATGTGGCTCCTAGGAAGTAATAGGGTGGTGGGCAGAAAATACTTTTTCTCTTCTTTTCTGGACCATCTATTTGGTGTCCTTCCAGCTTTTGTATGGAAGGGGTCCTGCTACTCACTTGTGAGAGGTGCTCAGAAGTTGCCTCTCCTTTGGAATAGGGGGATGGGTGCAGAAGTGACATGGAGGAGGCTGCAGAGGCAGTGCTCCTTGTGTGGGTGTGCCCATTTGCAGATCTGCTGACTTGCCACATGGGCTGTACCCAAGTTGGACATTGAGTTCAATCTGTGAGCATTAAATACCACCTCCACT... | pathogenic | 239,852 |
Is the genetic variant on chromosome 15, position 93019934, gene CHD2 (chromodomain helicase DNA binding protein 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | ATTAGGCTGTTTTTGTGTTTTGTATACGATGTCACTTATTTTATATTCTGAATCCTTTACAATAACTTCTTACTAAATACATTCTTTTATTTAAACCTTGGATTCCTCACCCATCTTTTTAATAGCTCAATACTTTGTAACCTGTGATTTACCTCACAGAGGGTTTAAGAAGAAAGAAAATCTCTTTGATTTACTCCAGAAAAAATGAACTAGCTTGAGTTTTAAGCACCTCTACAAAACCACAGACATTGACACCCTGTTAGAAATCTCACTTTCCATTTGATATGAAGCCATCCTCAAGTGATCCTTCGCATATTTAG... | ATTAGGCTGTTTTTGTGTTTTGTATACGATGTCACTTATTTTATATTCTGAATCCTTTACAATAACTTCTTACTAAATACATTCTTTTATTTAAACCTTGGATTCCTCACCCATCTTTTTAATAGCTCAATACTTTGTAACCTGTGATTTACCTCACAGAGGGTTTAAGAAGAAAGAAAATCTCTTTGATTTACTCCAGAAAAAATGAACTAGCTTGAGTTTTAAGCACCTCTACAAAACCACAGACATTGACACCCTGTTAGAAATCTCACTTTCCATTTGATATGAAGCCATCCTCAAGTGATCCTTCGCATATTTAG... | benign | 239,856 |
Is the chromosome 15, position 93020168 variant in CHD2 (chromodomain helicase DNA binding protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CAAAACCACAGACATTGACACCCTGTTAGAAATCTCACTTTCCATTTGATATGAAGCCATCCTCAAGTGATCCTTCGCATATTTAGAAGGTGTCTCTTTTTGTTGTTATTTGTTAATTCTTAGGGTGAATAGTCAAAAGTTTTTTACTTTGTGGTGCTCTCATCTGATCTACCCAGGTCAGCCATGAATTTAAGCCACTGGTGGACTGTACATCATATTAATGCTATCAGTTTCTGAGCTCAGCACTTCCTTAATGGTGTTGTTCTTCAGCTCTGTAGAAAAAAGCTGGAAGGCCAGTAAAATGAGTAGAGACACTTATT... | CAAAACCACAGACATTGACACCCTGTTAGAAATCTCACTTTCCATTTGATATGAAGCCATCCTCAAGTGATCCTTCGCATATTTAGAAGGTGTCTCTTTTTGTTGTTATTTGTTAATTCTTAGGGTGAATAGTCAAAAGTTTTTTACTTTGTGGTGCTCTCATCTGATCTACCCAGGTCAGCCATGAATTTAAGCCACTGGTGGACTGTACATCATATTAATGCTATCAGTTTCTGAGCTCAGCACTTCCTTAATGGTGTTGTTCTTCAGCTCTGTAGAAAAAAGCTGGAAGGCCAGTAAAATGAGTAGAGACACTTATT... | benign | 239,875 |
Mutation found at chromosome 15 position 98649525, gene IGF1R: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CCGCTCCCCGCAGCCGCCCACGTGGTGGAGCCCTGAGCTGCGCGAGGCCGCGGAGAGCGCTCAGGGCGGGCGGCTGGTCCGGGAGGCCACGCCAGCGCGACCCAGCCGAGTCGGCCCCCAGCCCGGGCCCCCACATTTCCTCCCCCGGAGGGAGGGAGGCGACTCTCCGCGGGCTGCCCTCCCCAGCGCCCGCCGCGCCCTCTGGCGGCCGCCGCGGGGACGCGCCCGGGGCACGCGGCGCTGCCTGTCTGGGCCCCCCTTCCGGGGCGCGGGGCCCGCGAGGGGCGGCGGGGTCCTCTCTCCTCGAGCCACTCTGGGCC... | CCGCTCCCCGCAGCCGCCCACGTGGTGGAGCCCTGAGCTGCGCGAGGCCGCGGAGAGCGCTCAGGGCGGGCGGCTGGTCCGGGAGGCCACGCCAGCGCGACCCAGCCGAGTCGGCCCCCAGCCCGGGCCCCCACATTTCCTCCCCCGGAGGGAGGGAGGCGACTCTCCGCGGGCTGCCCTCCCCAGCGCCCGCCGCGCCCTCTGGCGGCCGCCGCGGGGACGCGCCCGGGGCACGCGGCGCTGCCTGTCTGGGCCCCCCTTCCGGGGCGCGGGGCCCGCGAGGGGCGGCGGGGTCCTCTCTCCTCGAGCCACTCTGGGCC... | benign | 239,924 |
Clinical impact (benign or pathogenic) of the variant at chromosome 15, location 98707879, gene IGF1R (insulin like growth factor 1 receptor): what disease(s) if pathogenic? | pathogenic | CTGAGATGAAAGTTCTTATCCCCACATGTGATCCTTTATGACTTGGGTGCTATCAAATTCATTTCCTCAACTGCTCCCCTCTTCACCCTGACCATCAGATCTGCTGGCACATGGGCATACCTTGTTCTGCATTGTCTCTGGCCTGTGGGATATTTACCGAGCTTTAAATCCTAGGCACCCTTTGGGAGCCGGCCTGTGTGCAGAGCTCCCCTTAGCACGGTGGCACAAAGCTTGGACACCACCTCTTGTCTGTCCTGCTTAATTCCATTCACATCTAGAGTGGACTCGCTGTGTGCACACCACTGACCACCTGCCTCATG... | CTGAGATGAAAGTTCTTATCCCCACATGTGATCCTTTATGACTTGGGTGCTATCAAATTCATTTCCTCAACTGCTCCCCTCTTCACCCTGACCATCAGATCTGCTGGCACATGGGCATACCTTGTTCTGCATTGTCTCTGGCCTGTGGGATATTTACCGAGCTTTAAATCCTAGGCACCCTTTGGGAGCCGGCCTGTGTGCAGAGCTCCCCTTAGCACGGTGGCACAAAGCTTGGACACCACCTCTTGTCTGTCCTGCTTAATTCCATTCACATCTAGAGTGGACTCGCTGTGTGCACACCACTGACCACCTGCCTCATG... | pathogenic | 239,933 |
Located at chromosome 15 position 98934904, the variant affecting gene IGF1R (insulin like growth factor 1 receptor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Growth_delay_due_to_insulin-like_growth_factor_I_resistance'] | AGTTCATATTGGACACCCCTCAGAGGTCTAAAATGATGGTGCCCCTCCTGGGCCTAATTTATAATAAACATCTCTCCTTTGAGACATCACTTAAAGGTTGATAGTTGGGATATGGAGATGTTAGGATACAGTTGTCAGCCTCTCACATCCAGCCACAGGCCCAGGGTCAGCATCTGAAAGCATGAAAGCAAAAACAGGCACCTTCTCCACCTCCTTTCTGAGCCAGGACCACCTCCTTCCCACAGTCAGTGTGTGGTAGAGCCTGGTGGCAGGTCCCGTCAGGCAAGGACATTAGCACACAGCGTCAGAGGAATTACTGA... | AGTTCATATTGGACACCCCTCAGAGGTCTAAAATGATGGTGCCCCTCCTGGGCCTAATTTATAATAAACATCTCTCCTTTGAGACATCACTTAAAGGTTGATAGTTGGGATATGGAGATGTTAGGATACAGTTGTCAGCCTCTCACATCCAGCCACAGGCCCAGGGTCAGCATCTGAAAGCATGAAAGCAAAAACAGGCACCTTCTCCACCTCCTTTCTGAGCCAGGACCACCTCCTTCCCACAGTCAGTGTGTGGTAGAGCCTGGTGGCAGGTCCCGTCAGGCAAGGACATTAGCACACAGCGTCAGAGGAATTACTGA... | pathogenic | 239,969 |
Mutation found at chromosome 15 position 98939247, gene IGF1R (insulin like growth factor 1 receptor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Growth_delay_due_to_insulin-like_growth_factor_I_resistance', 'Inborn_genetic_diseases'] | AATACACAAAACAGCATGAAGGAGAAAAGCTTGATGAAATAGGTGACTGGAGATCTGGCAGAGTATTTCTTGCCAGCATCGATTGAGGCACCTCTGAAAAGTCCAAAACTCACTCCCTTCCTCCCCAGTTTCAGGCACAGAATAAAAATTCAGAACACATGGCCTTGGTCCTGGCTCTGCGGCTGGCTGCCTGTGGTCCTCAGACAGCCGCTGCAGGTTCCTGGGCCTCAGTGTCCTCAATATAAAATAAGAGGGTGGGACAAGATTACTGAAGTCCCTTTCAGAACTAAAATTCACCTTTAGATTGGTCAGATTTAAAC... | AATACACAAAACAGCATGAAGGAGAAAAGCTTGATGAAATAGGTGACTGGAGATCTGGCAGAGTATTTCTTGCCAGCATCGATTGAGGCACCTCTGAAAAGTCCAAAACTCACTCCCTTCCTCCCCAGTTTCAGGCACAGAATAAAAATTCAGAACACATGGCCTTGGTCCTGGCTCTGCGGCTGGCTGCCTGTGGTCCTCAGACAGCCGCTGCAGGTTCCTGGGCCTCAGTGTCCTCAATATAAAATAAGAGGGTGGGACAAGATTACTGAAGTCCCTTTCAGAACTAAAATTCACCTTTAGATTGGTCAGATTTAAAC... | pathogenic | 239,974 |
Is chromosome 15, position 99105901, gene SYNM (synemin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TCTCTAAGTTTTCACTCCAAATGAAAGAAATTCGTTTTGGAAAATGTAATGTACTATGAGGGTAGCTTGTATAAGAAGGGCAACTGGGACTCCTGTCAACTGACATCAAGAGAAGTATTTTGCACATTAAAATACTGGTAAATGGATATATATTTATGTTTTAAGTTAAAAAGATTATTTAGGCTGGGCACGGTAGCTCACGCCAGTAATCCCAGGACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCGTGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACCAAAAATACAAAAAAAAAAA... | TCTCTAAGTTTTCACTCCAAATGAAAGAAATTCGTTTTGGAAAATGTAATGTACTATGAGGGTAGCTTGTATAAGAAGGGCAACTGGGACTCCTGTCAACTGACATCAAGAGAAGTATTTTGCACATTAAAATACTGGTAAATGGATATATATTTATGTTTTAAGTTAAAAAGATTATTTAGGCTGGGCACGGTAGCTCACGCCAGTAATCCCAGGACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCGTGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACCAAAAATACAAAAAAAAAAA... | benign | 240,012 |
A genetic variant on chromosome 15, position 99712504, affects the gene MEF2A (myocyte enhancer factor 2A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TGGTCTCAAACTCCTGACCTCAAGTGATCCGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCAGCATGGCTGGCCTCAATGTAGGAACTTTTGCAGTAGCTACGTAAAAAATAGATTCCGTATGGACCTTCCATCATATGCAGAGCCCTCTTGTCTTCCTTTGTAGATTATTCACTGACCAGCGCTGACCTGTCAGCCCTTCAAGGCTTCAACTCGCCAGGAATGCTGTCGCTGGGACAGGTGTCGGCCTGGCAGCAGCACCACCTAGGACAAGCAGCCCTCAGCTCTCTTGTGTGAGTAACTAGAAG... | TGGTCTCAAACTCCTGACCTCAAGTGATCCGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCAGCATGGCTGGCCTCAATGTAGGAACTTTTGCAGTAGCTACGTAAAAAATAGATTCCGTATGGACCTTCCATCATATGCAGAGCCCTCTTGTCTTCCTTTGTAGATTATTCACTGACCAGCGCTGACCTGTCAGCCCTTCAAGGCTTCAACTCGCCAGGAATGCTGTCGCTGGGACAGGTGTCGGCCTGGCAGCAGCACCACCTAGGACAAGCAGCCCTCAGCTCTCTTGTGTGAGTAACTAGAAG... | benign | 240,035 |
Chromosome 15, position 100569491, gene LINS1 (lines homolog 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Inborn_genetic_diseases'] | TACATACATATTTTATACATGCACAAAAGCATATATATGAATGTGTATTACTCCCGCCCTGCTTCTTTCCCTAAATAATTGCAAGCCCCATGTATTTACTTGTTTTTTACTGGAGATGTTTCACATCCACAAACGTGCATAGAACGCATCTACCATTCCACTGACTATACAAATTCTGACTTACTTTACCAGGTATTTCTAGTAAAACTCTAAAACCTTAACATTTTTTACAAACTATGTGGCATCCTTGAATACACATTCTTTGACGTGCTTTTTCAATTACGGTAGAAACTGCCTTAACGCATAGCCTCACCGACAGC... | TACATACATATTTTATACATGCACAAAAGCATATATATGAATGTGTATTACTCCCGCCCTGCTTCTTTCCCTAAATAATTGCAAGCCCCATGTATTTACTTGTTTTTTACTGGAGATGTTTCACATCCACAAACGTGCATAGAACGCATCTACCATTCCACTGACTATACAAATTCTGACTTACTTTACCAGGTATTTCTAGTAAAACTCTAAAACCTTAACATTTTTTACAAACTATGTGGCATCCTTGAATACACATTCTTTGACGTGCTTTTTCAATTACGGTAGAAACTGCCTTAACGCATAGCCTCACCGACAGC... | pathogenic | 240,211 |
Variant in NPRL3, chromosome 16, position 88773—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AGACGGCAATGACAGGGTCCTCGTGGGTGGTCACCACCAGCACGCTGCGGAACTTGTCAAACAGCATGAGCAGCTGGGAGCGCCGCGTGTTCTCGTTGTACATAATCTCCTCCAGGTGGTGGCGGCCGCGGAAGTAGTGAAGGAGCCTGGAAGGGATGGGTGGGTGTGAGCCCAACCTGACACCAGCCCCCAGAGGCCTCTGCTGAAGAGCCACTGCTGGGAATCAGCTCTGAGCTGCCCACAGGCCTGAACAGAGCTGGTGGTGAAGGCCAGGGAGGCAGCCACCACAGCCCCCCAACAAGGGTGGGCAGGCCTCCTGG... | AGACGGCAATGACAGGGTCCTCGTGGGTGGTCACCACCAGCACGCTGCGGAACTTGTCAAACAGCATGAGCAGCTGGGAGCGCCGCGTGTTCTCGTTGTACATAATCTCCTCCAGGTGGTGGCGGCCGCGGAAGTAGTGAAGGAGCCTGGAAGGGATGGGTGGGTGTGAGCCCAACCTGACACCAGCCCCCAGAGGCCTCTGCTGAAGAGCCACTGCTGGGAATCAGCTCTGAGCTGCCCACAGGCCTGAACAGAGCTGGTGGTGAAGGCCAGGGAGGCAGCCACCACAGCCCCCCAACAAGGGTGGGCAGGCCTCCTGG... | benign | 240,404 |
Classify the chromosome 16 variant at position 89818 affecting gene NPRL3 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Epilepsy,_familial_focal,_with_variable_foci_3'] | CCATGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGACTTTTTTTTTTTTTTTTTTTAATGTCACCATCATTTGGAAGGTCACTGCTTTAGGGTGCTTTCTGCAACTCAGGCTGGCACAGAGGAGGCTAGGATGCAGGTGAGACCTGGACCAGCTGCTCAGAAGAGTTGCAAGTGGTTCTCTCGAGGGCCGAGTGTGGTTCTCAACCGGAAACTCAGTCCCTGACAACCCGACCACTCCCGGGAAACTATGCCCCTGCA... | CCATGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGACTTTTTTTTTTTTTTTTTTTAATGTCACCATCATTTGGAAGGTCACTGCTTTAGGGTGCTTTCTGCAACTCAGGCTGGCACAGAGGAGGCTAGGATGCAGGTGAGACCTGGACCAGCTGCTCAGAAGAGTTGCAAGTGGTTCTCTCGAGGGCCGAGTGTGGTTCTCAACCGGAAACTCAGTCCCTGACAACCCGACCACTCCCGGGAAACTATGCCCCTGCA... | pathogenic | 240,423 |
Variant at chromosome position 89875, chromosome 16, gene NPRL3: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Epilepsy,_familial_focal,_with_variable_foci_3'] | CCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGACTTTTTTTTTTTTTTTTTTTAATGTCACCATCATTTGGAAGGTCACTGCTTTAGGGTGCTTTCTGCAACTCAGGCTGGCACAGAGGAGGCTAGGATGCAGGTGAGACCTGGACCAGCTGCTCAGAAGAGTTGCAAGTGGTTCTCTCGAGGGCCGAGTGTGGTTCTCAACCGGAAACTCAGTCCCTGACAACCCGACCACTCCCGGGAAACTATGCCCCTGCACTGTCCCCCAAGTCAGGGTGGGGCTGACAGAGACCACTGAGCCACATCACCTTTAAC... | CCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGACTTTTTTTTTTTTTTTTTTTAATGTCACCATCATTTGGAAGGTCACTGCTTTAGGGTGCTTTCTGCAACTCAGGCTGGCACAGAGGAGGCTAGGATGCAGGTGAGACCTGGACCAGCTGCTCAGAAGAGTTGCAAGTGGTTCTCTCGAGGGCCGAGTGTGGTTCTCAACCGGAAACTCAGTCCCTGACAACCCGACCACTCCCGGGAAACTATGCCCCTGCACTGTCCCCCAAGTCAGGGTGGGGCTGACAGAGACCACTGAGCCACATCACCTTTAAC... | pathogenic | 240,427 |
A genetic variant at chromosome 16, position 92607, affecting gene NPRL3—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Epilepsy,_familial_focal,_with_variable_foci_3', 'Inborn_genetic_diseases'] | AGCAGTGAGGAGCCTTGTGCCAGGTAGAGTCCAGTCCCCATGAGAAAGTACTGCCCAGACTCAGGCGTTGAACAGTAAGGAGTGTGAGACACATCAGTGTCCTCAGATACACATCTGTCTACTCATCTCTGGGAGGGTCAACAAGGAGCTGCTGGCCAGGGTCACCTCCTGGGAGGGGGCTGGGGAACTGGGGATGGGAATGGGGGATATATCCCAGGCAAGTAAGAAGACTTGGTCAAAAGGACTGCAAGATATCCAGACTTCACATGAATTTAAGAAATAAAACAGACGCGGGTGGATCACTTGAGCTCAGGAGTTCG... | AGCAGTGAGGAGCCTTGTGCCAGGTAGAGTCCAGTCCCCATGAGAAAGTACTGCCCAGACTCAGGCGTTGAACAGTAAGGAGTGTGAGACACATCAGTGTCCTCAGATACACATCTGTCTACTCATCTCTGGGAGGGTCAACAAGGAGCTGCTGGCCAGGGTCACCTCCTGGGAGGGGGCTGGGGAACTGGGGATGGGAATGGGGGATATATCCCAGGCAAGTAAGAAGACTTGGTCAAAAGGACTGCAAGATATCCAGACTTCACATGAATTTAAGAAATAAAACAGACGCGGGTGGATCACTTGAGCTCAGGAGTTCG... | pathogenic | 240,432 |
A genetic alteration at chromosome 16, position 100352, in gene NPRL3—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GCAAAACAATCACCTGTCACGGAACACACGAAGTGCAGGAACCCTGCACCGGGTATGCACCAGGTCCTGCACCAGGTATGCACCGGGTATGCACCAGGTCCTGCACCAGGTATGCACCGGGTATGCACCAGGTATGCACCTGGGACTCAAACACACGGAACATACGAAGTGCAGGGAACCCTGCACCAGGTATGCACCAGGTCCTGCACGAGGTCCTGCACCGGGTGTGCATCAGGTATGCACCTGGGACACAAACAGGCAGCTGGAGCCTCCTGGCCCTTAACTGCGGAGAGAAGGGCCAAGAGCGGGATTTGAGAAAA... | GCAAAACAATCACCTGTCACGGAACACACGAAGTGCAGGAACCCTGCACCGGGTATGCACCAGGTCCTGCACCAGGTATGCACCGGGTATGCACCAGGTCCTGCACCAGGTATGCACCGGGTATGCACCAGGTATGCACCTGGGACTCAAACACACGGAACATACGAAGTGCAGGGAACCCTGCACCAGGTATGCACCAGGTCCTGCACGAGGTCCTGCACCGGGTGTGCATCAGGTATGCACCTGGGACACAAACAGGCAGCTGGAGCCTCCTGGCCCTTAACTGCGGAGAGAAGGGCCAAGAGCGGGATTTGAGAAAA... | benign | 240,449 |
Is the variant located on chromosome 16 at position 112742, gene NPRL3, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Epilepsy,_familial_focal,_with_variable_foci_3', 'Intellectual_disability'] | CCCGCCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGAGACAGGTATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGTCCTCAAGTGATCCATCCACCTTGGCCTCCCAAACTGCTGGGATTATAAGCATGAGCCACCACGCCTGGCCTAGACCTGCTAATTTTAAAATTTTTTGTCTGGGATTACAGGTGTGAGCTACCACATCCAGCCAAAAAGTCTTTTATTCATCCTTTTTCATAAATTTCTAAAAATATATACATAGACTTAAAATAAAATTTCTTTTTACTTCCTGTGATAAAGTCACAGACTCTA... | CCCGCCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGAGACAGGTATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGTCCTCAAGTGATCCATCCACCTTGGCCTCCCAAACTGCTGGGATTATAAGCATGAGCCACCACGCCTGGCCTAGACCTGCTAATTTTAAAATTTTTTGTCTGGGATTACAGGTGTGAGCTACCACATCCAGCCAAAAAGTCTTTTATTCATCCTTTTTCATAAATTTCTAAAAATATATACATAGACTTAAAATAAAATTTCTTTTTACTTCCTGTGATAAAGTCACAGACTCTA... | pathogenic | 240,466 |
Evaluate if the mutation on chromosome 16 at position 117316 in NPRL3 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Epilepsy,_familial_focal,_with_variable_foci_3'] | CCTGGACAAAAGTGTATATTTTAAAAAGAAAGAATATATATTTAAAATGACAAAAGTGTATATTTTAAAAAGAAAGAATATATATTTAAAATGACAAAAGTATATATTTTAAAAAGAAAGACTTGTCCACCCAAAAAATACAAACTCTTTACATTATCAAAATTTCTCCTACTCGTCAATATCACGGCCAGCTGAAGTCCTAGACTATCTTGTTTCCTGTTGCTTTTTTTTTTTTGAGCTGGAGTTTCGCTCTTGTTGCCCAGATTGGAGTGCAATGGTGCGATCTCTGCTCACTGCAACCTCCGCCTCCCGGATTCAAC... | CCTGGACAAAAGTGTATATTTTAAAAAGAAAGAATATATATTTAAAATGACAAAAGTGTATATTTTAAAAAGAAAGAATATATATTTAAAATGACAAAAGTATATATTTTAAAAAGAAAGACTTGTCCACCCAAAAAATACAAACTCTTTACATTATCAAAATTTCTCCTACTCGTCAATATCACGGCCAGCTGAAGTCCTAGACTATCTTGTTTCCTGTTGCTTTTTTTTTTTTGAGCTGGAGTTTCGCTCTTGTTGCCCAGATTGGAGTGCAATGGTGCGATCTCTGCTCACTGCAACCTCCGCCTCCCGGATTCAAC... | pathogenic | 240,471 |
Variant in gene NPRL3, located at chromosome 16 position 117344: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Epilepsy,_familial_focal,_with_variable_foci_3'] | AAAGAATATATATTTAAAATGACAAAAGTGTATATTTTAAAAAGAAAGAATATATATTTAAAATGACAAAAGTATATATTTTAAAAAGAAAGACTTGTCCACCCAAAAAATACAAACTCTTTACATTATCAAAATTTCTCCTACTCGTCAATATCACGGCCAGCTGAAGTCCTAGACTATCTTGTTTCCTGTTGCTTTTTTTTTTTTGAGCTGGAGTTTCGCTCTTGTTGCCCAGATTGGAGTGCAATGGTGCGATCTCTGCTCACTGCAACCTCCGCCTCCCGGATTCAACCGATTCTACTGCCTCAGCCTCCTGAGTA... | AAAGAATATATATTTAAAATGACAAAAGTGTATATTTTAAAAAGAAAGAATATATATTTAAAATGACAAAAGTATATATTTTAAAAAGAAAGACTTGTCCACCCAAAAAATACAAACTCTTTACATTATCAAAATTTCTCCTACTCGTCAATATCACGGCCAGCTGAAGTCCTAGACTATCTTGTTTCCTGTTGCTTTTTTTTTTTTGAGCTGGAGTTTCGCTCTTGTTGCCCAGATTGGAGTGCAATGGTGCGATCTCTGCTCACTGCAACCTCCGCCTCCCGGATTCAACCGATTCTACTGCCTCAGCCTCCTGAGTA... | pathogenic | 240,472 |
Does the chromosome 16 mutation at position 172913 within gene HBA2 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Erythrocytosis,_familial,_7', 'Heinz_body_anemia', 'Hemoglobin_H_disease', 'Hemoglobin_H_disease,_nondeletional', 'alpha_Thalassemia'] | TTTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAA... | TTTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAA... | pathogenic | 240,492 |
Gene HBA2 variant at chromosome 16, position 172971—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Erythrocytosis,_familial,_7', 'Heinz_body_anemia', 'Hemoglobin_H_disease', 'alpha_Thalassemia'] | CCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGG... | CCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGG... | pathogenic | 240,494 |
Located at chromosome 16 position 172980, the variant affecting gene HBA2—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Erythrocytosis,_familial,_7', 'Heinz_body_anemia', 'Hemoglobin_H_disease', 'alpha_Thalassemia'] | GACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCT... | GACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCT... | pathogenic | 240,495 |
Assess the variant on chromosome 16, position 173001, impacting HBA2: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['HEMOGLOBIN_H_HYDROPS_FETALIS_SYNDROME'] | ACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGC... | ACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGC... | pathogenic | 240,499 |
Gene HBA2 variant at chromosome position 173004 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Erythrocytosis,_familial,_7', 'Heinz_body_anemia', 'Hemoglobin_H_disease', 'alpha_Thalassemia'] | CAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGT... | CAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGT... | pathogenic | 240,500 |
Mutation at chromosome 16, position 173512, within HBA2: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic | TCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCA... | TCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCA... | pathogenic | 240,517 |
Regarding the variant found on chromosome 16 at position 173691 in gene HBA2: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Erythrocytosis,_familial,_7', 'Heinz_body_anemia', 'Hemoglobin_H_disease', 'alpha_Thalassemia'] | CTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCC... | CTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTCCCCCTCGCCAAGTCCACCCCTTCCTTCCTCACCCCACATCCCCTCACCTACATTCTGCAACCACAGGGGCCTTCTCTCCC... | pathogenic | 240,527 |
Considering the genetic mutation at chromosome 16, position 176778, impacting HBA1: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Erythrocytosis,_familial,_7', 'Heinz_body_anemia', 'Hemoglobin_H_disease', 'Methemoglobinemia,_alpha_type', 'alpha_Thalassemia'] | ACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAG... | ACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAG... | pathogenic | 240,540 |
Variant at chromosome position 176806, chromosome 16, gene HBA1: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Erythrocytosis,_familial,_7', 'Heinz_body_anemia', 'Hemoglobin_H_disease', 'Methemoglobinemia,_alpha_type', 'alpha_Thalassemia'] | CAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCT... | CAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCT... | pathogenic | 240,541 |
Is the variant located on chromosome 16 at position 176808, gene HBA1, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Erythrocytosis,_familial,_7', 'alpha_Thalassemia'] | GGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTC... | GGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTC... | pathogenic | 240,542 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 176945, gene HBA1. What disease(s) is it linked to if pathogenic? | pathogenic; ['Erythrocytosis,_familial,_7', 'HEMOGLOBIN_TAYBE', 'Heinz_body_anemia', 'Hemoglobin_H_disease', 'Methemoglobinemia,_alpha_type', 'alpha_Thalassemia'] | ATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACA... | ATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACA... | pathogenic | 240,549 |
Variant chromosome 16, position 177018, gene HBA1: benign or pathogenic? Disease(s)? | pathogenic; ['Erythrocytosis,_familial,_7', 'Heinz_body_anemia', 'Hemoglobin_H_disease', 'Methemoglobinemia,_alpha_type', 'alpha_Thalassemia'] | AGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCA... | AGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCA... | pathogenic | 240,553 |
Considering the genetic mutation at chromosome 16, position 177069, impacting HBA1: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Erythrocytosis,_familial,_7', 'HBA1-related_disorder', 'Heinz_body_anemia', 'Hemoglobin_H_disease', 'Methemoglobinemia,_alpha_type', 'alpha_Thalassemia'] | AGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTG... | AGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTG... | pathogenic | 240,555 |
Classify the chromosome 16 variant at position 177307 affecting gene HBA1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Erythrocytosis,_familial,_7', 'Heinz_body_anemia', 'Hemoglobin_H_disease', 'Methemoglobinemia,_alpha_type', 'alpha_Thalassemia'] | GGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCC... | GGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCC... | pathogenic | 240,560 |
Is the genetic mutation found on chromosome 16 at position 177334, within the gene HBA1, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACAT... | TGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACAT... | benign | 240,562 |
Variant at chromosome 16, position 574313, gene PIGQ (phosphatidylinositol glycan anchor biosynthesis class Q): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_77', 'Epilepsy'] | TGGCCTCCAGGCATCCACCCGCCGCCTGCCCTCTCTGACCACTGAGGAAATGGGCATTTGAGGAGTTCTGCAGCCTGACCCAGAAGGTCCCTTTTCAGCTAGAACCCACCGCCTTGAGTGACTGGATCCTCCAGCCCCAGTGCGGGCTGCCTGCAGGGGAGGAGAGCAGCTGCACCAGGGGCCTCTTAAGCCCCAGGCATTTCCGTGTGAGGCCTCTTCCAGAGCCCCTCCAAGCTTCGGGAGAGGACTTACAGGTCACACCACCCCGACGTGTGCATCCTGCTCTGTTCCCTCGTCCCTAAGGATGTGGTGGGCTCTGA... | TGGCCTCCAGGCATCCACCCGCCGCCTGCCCTCTCTGACCACTGAGGAAATGGGCATTTGAGGAGTTCTGCAGCCTGACCCAGAAGGTCCCTTTTCAGCTAGAACCCACCGCCTTGAGTGACTGGATCCTCCAGCCCCAGTGCGGGCTGCCTGCAGGGGAGGAGAGCAGCTGCACCAGGGGCCTCTTAAGCCCCAGGCATTTCCGTGTGAGGCCTCTTCCAGAGCCCCTCCAAGCTTCGGGAGAGGACTTACAGGTCACACCACCCCGACGTGTGCATCCTGCTCTGTTCCCTCGTCCCTAAGGATGTGGTGGGCTCTGA... | pathogenic | 240,604 |
The mutation impacting PIGQ (phosphatidylinositol glycan anchor biosynthesis class Q) on chromosome 16 at position 578403: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_77', 'Epilepsy', 'Inborn_genetic_diseases'] | GTTCTACCTTCTCCATGCTCTGGAGACACGGCCCTCCCCTGAACCAGAAGCAGGAACTCCAGGGGCGCTGGGGCCTGGGCAGGGCAGGCCTCGCAGGTACACCCCCCTTTCCTTCTGAAGGGGCTGTGTGCAGGAGCCAGCCGGGCTGAGGCTCTGGGGAGCCCGCCTCTCCCTGTGGGCCCAGCGTCCTGGTATCTCCCTTGTGGTCCCTGAGATCAGCGTTGCCCTCCTGGCTCTCTGGGGCCCTCTGCAGAGCCAGGGTCATGAAACCTTTCCTGTCCAGGGAGGCCCATGTGCAGCCCAGCTGGGACTTCCTGCCC... | GTTCTACCTTCTCCATGCTCTGGAGACACGGCCCTCCCCTGAACCAGAAGCAGGAACTCCAGGGGCGCTGGGGCCTGGGCAGGGCAGGCCTCGCAGGTACACCCCCCTTTCCTTCTGAAGGGGCTGTGTGCAGGAGCCAGCCGGGCTGAGGCTCTGGGGAGCCCGCCTCTCCCTGTGGGCCCAGCGTCCTGGTATCTCCCTTGTGGTCCCTGAGATCAGCGTTGCCCTCCTGGCTCTCTGGGGCCCTCTGCAGAGCCAGGGTCATGAAACCTTTCCTGTCCAGGGAGGCCCATGTGCAGCCCAGCTGGGACTTCCTGCCC... | pathogenic | 240,622 |
The mutation in gene PIGQ (phosphatidylinositol glycan anchor biosynthesis class Q) at chromosome 16, position 578911—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_77', 'Epilepsy', 'Inborn_genetic_diseases'] | AGCCCCGTCTCTTCCATTAGGAGCTTGTCTTCCTGCTGGGGGTGGTACCTGACTCTTTGGCCCACCCTCGGGCCTCTGTGGAGGCCTCCTTGAGGCCTGACTGGGTGGGTCTTGTGTGGGCTGCAGGTGTGCACTGGGCCTGCTTGTGGCCAGGCCAGGCCTCTGGGGGCAGCATCAGGCACGTCTGTGTGGCTGTGGGGGTGCAGGGAGCTCCAGCCCAGAAGGAAGGAGGGGCGGGGCTGGGGAAGGGGCTCGGCAGCTTTGCCTGTGGTCGTCCGCACCTGCCACCGGCCTACTTTGTCCTAGACCTCCCTTTTGCA... | AGCCCCGTCTCTTCCATTAGGAGCTTGTCTTCCTGCTGGGGGTGGTACCTGACTCTTTGGCCCACCCTCGGGCCTCTGTGGAGGCCTCCTTGAGGCCTGACTGGGTGGGTCTTGTGTGGGCTGCAGGTGTGCACTGGGCCTGCTTGTGGCCAGGCCAGGCCTCTGGGGGCAGCATCAGGCACGTCTGTGTGGCTGTGGGGGTGCAGGGAGCTCCAGCCCAGAAGGAAGGAGGGGCGGGGCTGGGGAAGGGGCTCGGCAGCTTTGCCTGTGGTCGTCCGCACCTGCCACCGGCCTACTTTGTCCTAGACCTCCCTTTTGCA... | pathogenic | 240,627 |
Evaluate the clinical significance of the mutation at chromosome 16, position 582230 in gene PIGQ (phosphatidylinositol glycan anchor biosynthesis class Q): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GCTGTTCATCGGGACTCTGCTCTTCACCATCCTGCTCTTCCTCCTGCCTACCACAGCCCTGTACTACCTGGTGTTCACCCTGGTGAGCTGAGCACCCACAGGCTGGGCCTGGCTGCAGTGCTCTGTGTGGCTTCTGCCAGCGCTGCCTGGGAGCAGTCAGCTGTGGGGCGGGCTGTCTCCTGCTGCAGGCCACGTGGGTGGCCTTTCAGGACCCTCTGGGCAGTGAGTGCTGCGCTCTGGAGTGGGCGAGGCCCTATCCTGGCCAGTAAGACACCCTCACTGCCCTGGAGCACGCAGCTGGGTGCGTGGTGGAAGGACCC... | GCTGTTCATCGGGACTCTGCTCTTCACCATCCTGCTCTTCCTCCTGCCTACCACAGCCCTGTACTACCTGGTGTTCACCCTGGTGAGCTGAGCACCCACAGGCTGGGCCTGGCTGCAGTGCTCTGTGTGGCTTCTGCCAGCGCTGCCTGGGAGCAGTCAGCTGTGGGGCGGGCTGTCTCCTGCTGCAGGCCACGTGGGTGGCCTTTCAGGACCCTCTGGGCAGTGAGTGCTGCGCTCTGGAGTGGGCGAGGCCCTATCCTGGCCAGTAAGACACCCTCACTGCCCTGGAGCACGCAGCTGGGTGCGTGGTGGAAGGACCC... | benign | 240,651 |
The mutation in gene LMF1 (lipase maturation factor 1) at chromosome 16, position 869975—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype'] | CTGGGGTCTCCAGGCAGCTGTGAGCAACTCCAGAGGGTGCAGCTGTCCCAGCTCCCGAGTGTTCTTGGAGGGAAAATCCAGAGCTGTGTTTTCCGTCAGAATCGGCGGCTGATGGCGCAGGGGAGGGGTGGGCAGTCCAGACTCTGCTCTGTTCCTGCTACCTCCAGGGGGCTGCTCAATCCCAACCATGTGGGGCAGGGGATACAAACGCTTGTCAGAGTGGCCGCCCCAGGTCTGGTCACGTGGACGTCTCCAATCCTCCATGCTCTGCCCCACCCTGGGCCCCACCCCACACTGTCCTCAGATCCCCTCCCGTACCC... | CTGGGGTCTCCAGGCAGCTGTGAGCAACTCCAGAGGGTGCAGCTGTCCCAGCTCCCGAGTGTTCTTGGAGGGAAAATCCAGAGCTGTGTTTTCCGTCAGAATCGGCGGCTGATGGCGCAGGGGAGGGGTGGGCAGTCCAGACTCTGCTCTGTTCCTGCTACCTCCAGGGGGCTGCTCAATCCCAACCATGTGGGGCAGGGGATACAAACGCTTGTCAGAGTGGCCGCCCCAGGTCTGGTCACGTGGACGTCTCCAATCCTCCATGCTCTGCCCCACCCTGGGCCCCACCCCACACTGTCCTCAGATCCCCTCCCGTACCC... | pathogenic | 240,806 |
Variant chromosome 16, position 1154050, gene CACNA1H (calcium voltage-gated channel subunit alpha1 H): benign or pathogenic? Disease(s)? | benign | CCTTGTTGGCGGGCGTGCTGAGGTGCACACCTGGGAGCTCAAGCTCCCTGGTGCACAAAGCAGTGGTCCCAGAAGCAAAACCACCCTTCCAGCCTGGAGGGGTGCCCTGGGGGGAGTCAGGAGCCTGGGCACCTGCCCCCACCTGCTGGCACCTCGAGGTGCGGCCAGCCCTCCCTGGGACAAGGGCCTGGCCATCCCCAATGTCTGAAGGGTCCACCCCTTCCCGACCAAACCACTTGCTCTGAGGGTCCAGGGGAAGGCCCTTCTGCTGGCCTGGCTGAAGGAGCAGCTGCTGGCAGGGGGAAGGGGCCTGCACTTCT... | CCTTGTTGGCGGGCGTGCTGAGGTGCACACCTGGGAGCTCAAGCTCCCTGGTGCACAAAGCAGTGGTCCCAGAAGCAAAACCACCCTTCCAGCCTGGAGGGGTGCCCTGGGGGGAGTCAGGAGCCTGGGCACCTGCCCCCACCTGCTGGCACCTCGAGGTGCGGCCAGCCCTCCCTGGGACAAGGGCCTGGCCATCCCCAATGTCTGAAGGGTCCACCCCTTCCCGACCAAACCACTTGCTCTGAGGGTCCAGGGGAAGGCCCTTCTGCTGGCCTGGCTGAAGGAGCAGCTGCTGGCAGGGGGAAGGGGCCTGCACTTCT... | benign | 240,942 |
The chromosome 16, position 1154051 genetic variant in gene CACNA1H (calcium voltage-gated channel subunit alpha1 H): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CTTGTTGGCGGGCGTGCTGAGGTGCACACCTGGGAGCTCAAGCTCCCTGGTGCACAAAGCAGTGGTCCCAGAAGCAAAACCACCCTTCCAGCCTGGAGGGGTGCCCTGGGGGGAGTCAGGAGCCTGGGCACCTGCCCCCACCTGCTGGCACCTCGAGGTGCGGCCAGCCCTCCCTGGGACAAGGGCCTGGCCATCCCCAATGTCTGAAGGGTCCACCCCTTCCCGACCAAACCACTTGCTCTGAGGGTCCAGGGGAAGGCCCTTCTGCTGGCCTGGCTGAAGGAGCAGCTGCTGGCAGGGGGAAGGGGCCTGCACTTCTC... | CTTGTTGGCGGGCGTGCTGAGGTGCACACCTGGGAGCTCAAGCTCCCTGGTGCACAAAGCAGTGGTCCCAGAAGCAAAACCACCCTTCCAGCCTGGAGGGGTGCCCTGGGGGGAGTCAGGAGCCTGGGCACCTGCCCCCACCTGCTGGCACCTCGAGGTGCGGCCAGCCCTCCCTGGGACAAGGGCCTGGCCATCCCCAATGTCTGAAGGGTCCACCCCTTCCCGACCAAACCACTTGCTCTGAGGGTCCAGGGGAAGGCCCTTCTGCTGGCCTGGCTGAAGGAGCAGCTGCTGGCAGGGGGAAGGGGCCTGCACTTCTC... | benign | 240,944 |
The chromosome 16, position 1210973 genetic variant in gene CACNA1H (calcium voltage-gated channel subunit alpha1 H): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TGCATTAAATGATCCACGTGTGGCTTGCACACAGTGGGTGCTCCGTAATGACAGCGGTCGGTGCTAATAGTGATGCCACCAGGTCACTGACTCCCGCCACCCCCCAGGCCAGCCTCCGAAGTTCTCCCTGTGCCCCCTGGGGCCCCAGTGGCGCCTGGAGCAGCCGGCGCTCCAGCTGGAGCAGCCTGGGCCGTGCCCCCAGCCTCAAGCGCCGCGGCCAGTGTGGGGAACGTGAGTCCCTGCTGTCTGGCGAGGGCAAGGGCAGCACCGACGACGAAGCTGAGGACGGCAGGGCCGCGCCCGGGCCCCGTGCCACCCCA... | TGCATTAAATGATCCACGTGTGGCTTGCACACAGTGGGTGCTCCGTAATGACAGCGGTCGGTGCTAATAGTGATGCCACCAGGTCACTGACTCCCGCCACCCCCCAGGCCAGCCTCCGAAGTTCTCCCTGTGCCCCCTGGGGCCCCAGTGGCGCCTGGAGCAGCCGGCGCTCCAGCTGGAGCAGCCTGGGCCGTGCCCCCAGCCTCAAGCGCCGCGGCCAGTGTGGGGAACGTGAGTCCCTGCTGTCTGGCGAGGGCAAGGGCAGCACCGACGACGAAGCTGAGGACGGCAGGGCCGCGCCCGGGCCCCGTGCCACCCCA... | benign | 241,251 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 1212150, gene CACNA1H (calcium voltage-gated channel subunit alpha1 H). What disease(s) is it linked to if pathogenic? | benign | CCTGGGCCCTCTACCTCTTCTCCCCACAGAACCGGTGAGGCGGCCGGGTCAGGAGGCTGCATGGCTAGTTCCACCCCACGGGACCCCCGCCCCCAGGTCCCTCCTGGGTGGGGCTAGCACATGGTGGATATTTCCGAGTGGGCACCCCTTCTCACACCGCAGGGACCGGGGCTGAAGTGGAGGCGTGGCCAGGGCTGTCCTGCAACCCCCATCCACTCTGCCATCCACGCCGCCCCGCCCCACCTCTCACCCGCCCCCGCCCACCCAGGTTCCGCGTCTCCTGCCAGAAGGTCATCACACACAAGATGTTTGATCACGTG... | CCTGGGCCCTCTACCTCTTCTCCCCACAGAACCGGTGAGGCGGCCGGGTCAGGAGGCTGCATGGCTAGTTCCACCCCACGGGACCCCCGCCCCCAGGTCCCTCCTGGGTGGGGCTAGCACATGGTGGATATTTCCGAGTGGGCACCCCTTCTCACACCGCAGGGACCGGGGCTGAAGTGGAGGCGTGGCCAGGGCTGTCCTGCAACCCCCATCCACTCTGCCATCCACGCCGCCCCGCCCCACCTCTCACCCGCCCCCGCCCACCCAGGTTCCGCGTCTCCTGCCAGAAGGTCATCACACACAAGATGTTTGATCACGTG... | benign | 241,290 |
Gene mutation in CACNA1H (calcium voltage-gated channel subunit alpha1 H) at chromosome 16, position 1219145—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TTGCAAATAGCGTGGGGCCTGATCAGGGCCACACGCCTCCTGGGCGTCCTCACCCGGCCCTGCTTCCGGAGCCTTTTCTGCACGAGGCCGAGTCTCGTGTTGACGCAGAGGCATGTGCCCAGGCTTGTGACACGTGTGCGGACGTGCACACAGCAACACAGACACAGGGATGCCTGCCACACGTGAGGGGAAGCAAGAACACCTAGAGACGTGCACACACAGACATCTGGAAACACACGCCATGCCCAACGTCACATGGTCCCAGGAGACAAATGTTGGCTGTCTCCCCTTACCTGGTGGCCGTAGCCTCCTGAGGCCCC... | TTGCAAATAGCGTGGGGCCTGATCAGGGCCACACGCCTCCTGGGCGTCCTCACCCGGCCCTGCTTCCGGAGCCTTTTCTGCACGAGGCCGAGTCTCGTGTTGACGCAGAGGCATGTGCCCAGGCTTGTGACACGTGTGCGGACGTGCACACAGCAACACAGACACAGGGATGCCTGCCACACGTGAGGGGAAGCAAGAACACCTAGAGACGTGCACACACAGACATCTGGAAACACACGCCATGCCCAACGTCACATGGTCCCAGGAGACAAATGTTGGCTGTCTCCCCTTACCTGGTGGCCGTAGCCTCCTGAGGCCCC... | benign | 241,382 |
Variant on chromosome 16, at position 1361752, affecting GNPTG (N-acetylglucosamine-1-phosphate transferase subunit gamma): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['GNPTG-mucolipidosis'] | CTATGAACTTTAGGATGTGTTTTTCTATTTCTGCAAAAACTGTCATTGGGGTTTTGATGGGGTTGCATTGAATCTGCAGATCACTCTGGGTGGTATTGTCATCTTAAAAATATTGAATCCATCAGGCTGGGCGCTGGGGCTCACGCCTGTAATCCCAGTACTTTAGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCAACATGGAGAAACCCCGTCTCTACAAAAATACAAAAATTAGCCAGCCGTGATGGCAGGCACCGGTAATCCTAGCTACTGGGGAGACTGAGGCGGGAAAATC... | CTATGAACTTTAGGATGTGTTTTTCTATTTCTGCAAAAACTGTCATTGGGGTTTTGATGGGGTTGCATTGAATCTGCAGATCACTCTGGGTGGTATTGTCATCTTAAAAATATTGAATCCATCAGGCTGGGCGCTGGGGCTCACGCCTGTAATCCCAGTACTTTAGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCAACATGGAGAAACCCCGTCTCTACAAAAATACAAAAATTAGCCAGCCGTGATGGCAGGCACCGGTAATCCTAGCTACTGGGGAGACTGAGGCGGGAAAATC... | pathogenic | 241,488 |
Clinical significance of chromosome 16, position 1361878, gene GNPTG (N-acetylglucosamine-1-phosphate transferase subunit gamma): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['GNPTG-mucolipidosis'] | CTGGGCGCTGGGGCTCACGCCTGTAATCCCAGTACTTTAGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCAACATGGAGAAACCCCGTCTCTACAAAAATACAAAAATTAGCCAGCCGTGATGGCAGGCACCGGTAATCCTAGCTACTGGGGAGACTGAGGCGGGAAAATCGGTTGAACCCAGTGGTGGAGATTGTAGTGAGCCAAGATCGTGCCACTGCAATCCAGCCTGGCGACAATGCTAGACTCCGTCTCAAAAAAAAAAAAGTGGCGTATGGATGTCTCATGTCAGCTTTAT... | CTGGGCGCTGGGGCTCACGCCTGTAATCCCAGTACTTTAGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCATCCTGGCCAACATGGAGAAACCCCGTCTCTACAAAAATACAAAAATTAGCCAGCCGTGATGGCAGGCACCGGTAATCCTAGCTACTGGGGAGACTGAGGCGGGAAAATCGGTTGAACCCAGTGGTGGAGATTGTAGTGAGCCAAGATCGTGCCACTGCAATCCAGCCTGGCGACAATGCTAGACTCCGTCTCAAAAAAAAAAAAGTGGCGTATGGATGTCTCATGTCAGCTTTAT... | pathogenic | 241,494 |
Clinically, how would you classify the variant at chromosome 16, position 1362061, gene GNPTG (N-acetylglucosamine-1-phosphate transferase subunit gamma): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['GNPTG-mucolipidosis', 'Retinal_dystrophy', 'Rod-cone_dystrophy'] | GCGGGAAAATCGGTTGAACCCAGTGGTGGAGATTGTAGTGAGCCAAGATCGTGCCACTGCAATCCAGCCTGGCGACAATGCTAGACTCCGTCTCAAAAAAAAAAAAGTGGCGTATGGATGTCTCATGTCAGCTTTATGTAGTGGGTGGCACTGTTTGTGCGTGGATAATTGTGGTGTCTTGGCACATTGACCCTTTTATCAATGTATAACATCTTTGTCTCTTAAAATAGTTTCAGCCACTTCAGCTCTCTTTTGCCTGTTTATATGAATACTTTTCCATACCTTCACTTTCAACCTGTTTATGTCTTTAAATCTGAAGT... | GCGGGAAAATCGGTTGAACCCAGTGGTGGAGATTGTAGTGAGCCAAGATCGTGCCACTGCAATCCAGCCTGGCGACAATGCTAGACTCCGTCTCAAAAAAAAAAAAGTGGCGTATGGATGTCTCATGTCAGCTTTATGTAGTGGGTGGCACTGTTTGTGCGTGGATAATTGTGGTGTCTTGGCACATTGACCCTTTTATCAATGTATAACATCTTTGTCTCTTAAAATAGTTTCAGCCACTTCAGCTCTCTTTTGCCTGTTTATATGAATACTTTTCCATACCTTCACTTTCAACCTGTTTATGTCTTTAAATCTGAAGT... | pathogenic | 241,505 |
Regarding the variant at chromosome 16 and position 1362103, affecting gene GNPTG (N-acetylglucosamine-1-phosphate transferase subunit gamma): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['GNPTG-mucolipidosis'] | CCAAGATCGTGCCACTGCAATCCAGCCTGGCGACAATGCTAGACTCCGTCTCAAAAAAAAAAAAGTGGCGTATGGATGTCTCATGTCAGCTTTATGTAGTGGGTGGCACTGTTTGTGCGTGGATAATTGTGGTGTCTTGGCACATTGACCCTTTTATCAATGTATAACATCTTTGTCTCTTAAAATAGTTTCAGCCACTTCAGCTCTCTTTTGCCTGTTTATATGAATACTTTTCCATACCTTCACTTTCAACCTGTTTATGTCTTTAAATCTGAAGTTAGTCTTTCAGGCCGGGCATAGTGGCTCACACCTGTAATCCC... | CCAAGATCGTGCCACTGCAATCCAGCCTGGCGACAATGCTAGACTCCGTCTCAAAAAAAAAAAAGTGGCGTATGGATGTCTCATGTCAGCTTTATGTAGTGGGTGGCACTGTTTGTGCGTGGATAATTGTGGTGTCTTGGCACATTGACCCTTTTATCAATGTATAACATCTTTGTCTCTTAAAATAGTTTCAGCCACTTCAGCTCTCTTTTGCCTGTTTATATGAATACTTTTCCATACCTTCACTTTCAACCTGTTTATGTCTTTAAATCTGAAGTTAGTCTTTCAGGCCGGGCATAGTGGCTCACACCTGTAATCCC... | pathogenic | 241,508 |
Gene GNPTG (N-acetylglucosamine-1-phosphate transferase subunit gamma) variant at chromosome position 1362227 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['GNPTG-mucolipidosis'] | AATTGTGGTGTCTTGGCACATTGACCCTTTTATCAATGTATAACATCTTTGTCTCTTAAAATAGTTTCAGCCACTTCAGCTCTCTTTTGCCTGTTTATATGAATACTTTTCCATACCTTCACTTTCAACCTGTTTATGTCTTTAAATCTGAAGTTAGTCTTTCAGGCCGGGCATAGTGGCTCACACCTGTAATCCCAGCACTTGGGAGGCCAAGGTGGACGGATCACTTCAGGTCCACAGTTGCAGACCAGCCTGGCCAACACAGTGAAACCCCGCCTCTGCTGAAGATACAAAAATTAGCTGGGCGTGGTGGCGGGCAC... | AATTGTGGTGTCTTGGCACATTGACCCTTTTATCAATGTATAACATCTTTGTCTCTTAAAATAGTTTCAGCCACTTCAGCTCTCTTTTGCCTGTTTATATGAATACTTTTCCATACCTTCACTTTCAACCTGTTTATGTCTTTAAATCTGAAGTTAGTCTTTCAGGCCGGGCATAGTGGCTCACACCTGTAATCCCAGCACTTGGGAGGCCAAGGTGGACGGATCACTTCAGGTCCACAGTTGCAGACCAGCCTGGCCAACACAGTGAAACCCCGCCTCTGCTGAAGATACAAAAATTAGCTGGGCGTGGTGGCGGGCAC... | pathogenic | 241,512 |
Gene GNPTG (N-acetylglucosamine-1-phosphate transferase subunit gamma) variant at chromosome 16, position 1362271—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['GNPTG-mucolipidosis'] | ATCTTTGTCTCTTAAAATAGTTTCAGCCACTTCAGCTCTCTTTTGCCTGTTTATATGAATACTTTTCCATACCTTCACTTTCAACCTGTTTATGTCTTTAAATCTGAAGTTAGTCTTTCAGGCCGGGCATAGTGGCTCACACCTGTAATCCCAGCACTTGGGAGGCCAAGGTGGACGGATCACTTCAGGTCCACAGTTGCAGACCAGCCTGGCCAACACAGTGAAACCCCGCCTCTGCTGAAGATACAAAAATTAGCTGGGCGTGGTGGCGGGCACGTGGGATCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTT... | ATCTTTGTCTCTTAAAATAGTTTCAGCCACTTCAGCTCTCTTTTGCCTGTTTATATGAATACTTTTCCATACCTTCACTTTCAACCTGTTTATGTCTTTAAATCTGAAGTTAGTCTTTCAGGCCGGGCATAGTGGCTCACACCTGTAATCCCAGCACTTGGGAGGCCAAGGTGGACGGATCACTTCAGGTCCACAGTTGCAGACCAGCCTGGCCAACACAGTGAAACCCCGCCTCTGCTGAAGATACAAAAATTAGCTGGGCGTGGTGGCGGGCACGTGGGATCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTT... | pathogenic | 241,513 |
Variant chromosome 16, position 1362287, gene GNPTG (N-acetylglucosamine-1-phosphate transferase subunit gamma): benign or pathogenic? Disease(s)? | pathogenic; ['GNPTG-mucolipidosis'] | ATAGTTTCAGCCACTTCAGCTCTCTTTTGCCTGTTTATATGAATACTTTTCCATACCTTCACTTTCAACCTGTTTATGTCTTTAAATCTGAAGTTAGTCTTTCAGGCCGGGCATAGTGGCTCACACCTGTAATCCCAGCACTTGGGAGGCCAAGGTGGACGGATCACTTCAGGTCCACAGTTGCAGACCAGCCTGGCCAACACAGTGAAACCCCGCCTCTGCTGAAGATACAAAAATTAGCTGGGCGTGGTGGCGGGCACGTGGGATCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAACCCAGGAGGCGGA... | ATAGTTTCAGCCACTTCAGCTCTCTTTTGCCTGTTTATATGAATACTTTTCCATACCTTCACTTTCAACCTGTTTATGTCTTTAAATCTGAAGTTAGTCTTTCAGGCCGGGCATAGTGGCTCACACCTGTAATCCCAGCACTTGGGAGGCCAAGGTGGACGGATCACTTCAGGTCCACAGTTGCAGACCAGCCTGGCCAACACAGTGAAACCCCGCCTCTGCTGAAGATACAAAAATTAGCTGGGCGTGGTGGCGGGCACGTGGGATCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAACCCAGGAGGCGGA... | pathogenic | 241,515 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 1362526, gene GNPTG (N-acetylglucosamine-1-phosphate transferase subunit gamma). What disease(s) is it linked to if pathogenic? | pathogenic; ['GNPTG-mucolipidosis', 'Rod-cone_dystrophy'] | GCTGGGCGTGGTGGCGGGCACGTGGGATCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCACCTTGGGTGACAGAGTGAGACTGTCTCCAAAAGAAAAAAAAGAATCTAATGCCTGATGAGCTGAGGTGGAACAGTTTCATCCCCAAACCACCCATCCCCACCCCCGGCTGGTAGAAAAACTGCCTTCCATGAAACCAGTCCCTGGTGCCAAAAAGATTGGGGACCACTGGTTTAAGTCCTGTAGCTTTACAGACCATAGCTAG... | GCTGGGCGTGGTGGCGGGCACGTGGGATCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTTCACCTTGGGTGACAGAGTGAGACTGTCTCCAAAAGAAAAAAAAGAATCTAATGCCTGATGAGCTGAGGTGGAACAGTTTCATCCCCAAACCACCCATCCCCACCCCCGGCTGGTAGAAAAACTGCCTTCCATGAAACCAGTCCCTGGTGCCAAAAAGATTGGGGACCACTGGTTTAAGTCCTGTAGCTTTACAGACCATAGCTAG... | pathogenic | 241,518 |
Is the chromosome 16, position 1362635 variant in GNPTG (N-acetylglucosamine-1-phosphate transferase subunit gamma) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['GNPTG-mucolipidosis'] | GCATTTCACCTTGGGTGACAGAGTGAGACTGTCTCCAAAAGAAAAAAAAGAATCTAATGCCTGATGAGCTGAGGTGGAACAGTTTCATCCCCAAACCACCCATCCCCACCCCCGGCTGGTAGAAAAACTGCCTTCCATGAAACCAGTCCCTGGTGCCAAAAAGATTGGGGACCACTGGTTTAAGTCCTGTAGCTTTACAGACCATAGCTAGAAAGGCAACTGGTATTAATTCACCCTGCACGAGGACCTCCGTCTGCCTCCGCTGAGCTGCTGTCTGCTCACTTCCCCGGGTGGCACACCGGCCTGCATGTAACCAACTC... | GCATTTCACCTTGGGTGACAGAGTGAGACTGTCTCCAAAAGAAAAAAAAGAATCTAATGCCTGATGAGCTGAGGTGGAACAGTTTCATCCCCAAACCACCCATCCCCACCCCCGGCTGGTAGAAAAACTGCCTTCCATGAAACCAGTCCCTGGTGCCAAAAAGATTGGGGACCACTGGTTTAAGTCCTGTAGCTTTACAGACCATAGCTAGAAAGGCAACTGGTATTAATTCACCCTGCACGAGGACCTCCGTCTGCCTCCGCTGAGCTGCTGTCTGCTCACTTCCCCGGGTGGCACACCGGCCTGCATGTAACCAACTC... | pathogenic | 241,520 |
Clinical significance of chromosome 16, position 1450707, gene CLCN7 (chloride voltage-gated channel 7): benign or pathogenic? Name the disease(s) if pathogenic. | benign | ACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCCGAGCCTACCCCTGGGAGCCCAGAGGCCGCCCCCAGAAACCCTGAGCCTACCCCCCGGGACCGGCTGTTTGGAGGCTCACAGGGGCCCCTCCCCTATGGCAGCACCCACGCTCTCAGGGTGAGGCTTCGAGGCCCTGGCGCACCTCAATGAAGACG... | ACAGGTGTCCTGGGCGCTGTACCTGGCAGTGAGTGAGTGTGAGGTGACCGGGGCCTCCCAGTGCAGGAAGGGCACACTCTGCAGCTGAATGTGCATGTCGTACAGGCCCTGCGGGCGGGGCGGGAACACAGGGCTTGAGGAGTCCACACCCACCCCTGGAGCCCCGAGCCTACCCCTGGGAGCCCAGAGGCCGCCCCCAGAAACCCTGAGCCTACCCCCCGGGACCGGCTGTTTGGAGGCTCACAGGGGCCCCTCCCCTATGGCAGCACCCACGCTCTCAGGGTGAGGCTTCGAGGCCCTGGCGCACCTCAATGAAGACG... | benign | 241,566 |
The mutation in gene TELO2 (telomere maintenance 2) at chromosome 16, position 1499342—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCCACACAGCCCCAGACACCAGGTGGGTGCAGCTCCCCAGGCTCAGGTCCTCCGTCTGTCCCCTCAGAGGAGATCCTGGGCGTGCTGGTACCCCGGCTGGCAGCGCTCACCCAGGGCAGCTACCTGCACCAGCGCGTCTGCTGGCGCCTGGTGGAGCAAGTGCCGGACCGGGCCATGGAGGCTGTGCTGACCGGGCTGGTGGAGGCCGCACTGGGGTAAGCAGCCAGGCTGTCCTCCAGCTGCACTGGCTTCTGGGGTCTGGACCCCCAGAGGCTGCCATTCCTTCACGCTACTTCTCCTGGGCGCCGTGCTGCAGCTGG... | CCCACACAGCCCCAGACACCAGGTGGGTGCAGCTCCCCAGGCTCAGGTCCTCCGTCTGTCCCCTCAGAGGAGATCCTGGGCGTGCTGGTACCCCGGCTGGCAGCGCTCACCCAGGGCAGCTACCTGCACCAGCGCGTCTGCTGGCGCCTGGTGGAGCAAGTGCCGGACCGGGCCATGGAGGCTGTGCTGACCGGGCTGGTGGAGGCCGCACTGGGGTAAGCAGCCAGGCTGTCCTCCAGCTGCACTGGCTTCTGGGGTCTGGACCCCCAGAGGCTGCCATTCCTTCACGCTACTTCTCCTGGGCGCCGTGCTGCAGCTGG... | benign | 241,659 |
Is chromosome 16, position 1502402, gene TELO2 (telomere maintenance 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic | AGGAGCTGTTGGAGACGTGGGGCAGCAGCAGTGCCATCCGCCACACTCCCCTGCCGCAGCAGCGCCACGTCAGCAAGGCTGTCCTCATCTGCCTGGCGCAACTCGGGGAGCCGGAACTGCGGGACAGCCGGGATGGTGAGCGGGTGGTTTGGGCTCCCCCCGGCCTCGGGCGCCCCGAGGTGCTCAGGGGGCCTGTCCGGTGCTTGCAGAACTGCTGGCCAGCATGATGGCGGGCGTGAAGTGCCGCCTGGACAGTAGCCTGCCCCCCGTGCGACGCCTGGGCATGATCGTGGCAGAGGTCGTTAGTGCCCGGATCCACC... | AGGAGCTGTTGGAGACGTGGGGCAGCAGCAGTGCCATCCGCCACACTCCCCTGCCGCAGCAGCGCCACGTCAGCAAGGCTGTCCTCATCTGCCTGGCGCAACTCGGGGAGCCGGAACTGCGGGACAGCCGGGATGGTGAGCGGGTGGTTTGGGCTCCCCCCGGCCTCGGGCGCCCCGAGGTGCTCAGGGGGCCTGTCCGGTGCTTGCAGAACTGCTGGCCAGCATGATGGCGGGCGTGAAGTGCCGCCTGGACAGTAGCCTGCCCCCCGTGCGACGCCTGGGCATGATCGTGGCAGAGGTCGTTAGTGCCCGGATCCACC... | pathogenic | 241,678 |
Is the genetic variant on chromosome 16, position 1519939, gene IFT140 (intraflagellar transport 140), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Retinitis_pigmentosa_80', 'Saldino-Mainzer_syndrome'] | GCAGTGGCGCCATCAGATCTCACTGCAGCCTCAACCTCCTGGGCTCAAGGGATCCTCCCACCTCAGCCTCCCAAGCAGCTGGGACCCCAGGTGTGAGCCACCATGCCTGGCTAATTTTTCCCCTTTTTGTAGAGATGGGGTTTCACCATGTCGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGTCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCGCCACACACAGCCTCAGTTTGAGCCGTTAAGCCTTCGTTTCAGGAGCCTTGTGTGGCGGGATGCTGCTAGTGAGCAGCACTCAGGC... | GCAGTGGCGCCATCAGATCTCACTGCAGCCTCAACCTCCTGGGCTCAAGGGATCCTCCCACCTCAGCCTCCCAAGCAGCTGGGACCCCAGGTGTGAGCCACCATGCCTGGCTAATTTTTCCCCTTTTTGTAGAGATGGGGTTTCACCATGTCGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGTCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCGCCACACACAGCCTCAGTTTGAGCCGTTAAGCCTTCGTTTCAGGAGCCTTGTGTGGCGGGATGCTGCTAGTGAGCAGCACTCAGGC... | pathogenic | 241,725 |
The chromosome 16, position 1520004 genetic variant in gene IFT140 (intraflagellar transport 140): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Jeune_thoracic_dystrophy', 'Retinitis_pigmentosa_80', 'Saldino-Mainzer_syndrome'] | GCCTCCCAAGCAGCTGGGACCCCAGGTGTGAGCCACCATGCCTGGCTAATTTTTCCCCTTTTTGTAGAGATGGGGTTTCACCATGTCGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGTCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCGCCACACACAGCCTCAGTTTGAGCCGTTAAGCCTTCGTTTCAGGAGCCTTGTGTGGCGGGATGCTGCTAGTGAGCAGCACTCAGGCCTCACCGTCTGGTATTCCTCCTTCCGCACGTAGTGCTCCACCAGGAAGCCATAGACGTCCCCGAT... | GCCTCCCAAGCAGCTGGGACCCCAGGTGTGAGCCACCATGCCTGGCTAATTTTTCCCCTTTTTGTAGAGATGGGGTTTCACCATGTCGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGTCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCGCCACACACAGCCTCAGTTTGAGCCGTTAAGCCTTCGTTTCAGGAGCCTTGTGTGGCGGGATGCTGCTAGTGAGCAGCACTCAGGCCTCACCGTCTGGTATTCCTCCTTCCGCACGTAGTGCTCCACCAGGAAGCCATAGACGTCCCCGAT... | pathogenic | 241,728 |
Evaluate this variant at chromosome 16, position 1523561, gene IFT140 (intraflagellar transport 140): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Retinitis_pigmentosa_80', 'Saldino-Mainzer_syndrome'] | CAAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCGGCTAATTTTGTAATTTTTTTTAGTAGAGACAGGGTTTCTCCCTGTTGGTCAGGCTGGGCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCCTCATTTTAAGAAAAATTTTACATTCTTCACTTGAGAATATGTCTTAGGCCGGGCATGTTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGAGAGGATCACTTGGGCCTAGGAGTTTGAGACCAGCCTGGG... | CAAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCGGCTAATTTTGTAATTTTTTTTAGTAGAGACAGGGTTTCTCCCTGTTGGTCAGGCTGGGCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCCTCATTTTAAGAAAAATTTTACATTCTTCACTTGAGAATATGTCTTAGGCCGGGCATGTTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGAGAGGATCACTTGGGCCTAGGAGTTTGAGACCAGCCTGGG... | pathogenic | 241,750 |
Benign or pathogenic: chromosome 16, position 1523844, gene IFT140 (intraflagellar transport 140) variant? Disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_80', 'Saldino-Mainzer_syndrome'] | GGATCACTTGGGCCTAGGAGTTTGAGACCAGCCTGGGCAACACAGTCAGACCCCCATCTCCACAAGAAAAAAAAACAGTAATAACCCACAAATATATATGAAGTAATAACACATTTATATTTAAAAAAAAAAAAAAAAAGAATATGGCTGAGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTAAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGCTGGATGCCATGGCTCATGCCTGTAATCTCAAGCACTT... | GGATCACTTGGGCCTAGGAGTTTGAGACCAGCCTGGGCAACACAGTCAGACCCCCATCTCCACAAGAAAAAAAAACAGTAATAACCCACAAATATATATGAAGTAATAACACATTTATATTTAAAAAAAAAAAAAAAAAGAATATGGCTGAGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTAAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGCTGGATGCCATGGCTCATGCCTGTAATCTCAAGCACTT... | pathogenic | 241,753 |
A mutation at chromosome position 1523905 on chromosome 16 in gene IFT140 (intraflagellar transport 140): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Retinitis_pigmentosa_80', 'Saldino-Mainzer_syndrome'] | ACAAGAAAAAAAAACAGTAATAACCCACAAATATATATGAAGTAATAACACATTTATATTTAAAAAAAAAAAAAAAAAGAATATGGCTGAGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTAAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGCTGGATGCCATGGCTCATGCCTGTAATCTCAAGCACTTTGGGAGGCTGAGGAGGGTGGATCATGAGATCAGGAGATCGAGACCATCCTGGCCAACATGG... | ACAAGAAAAAAAAACAGTAATAACCCACAAATATATATGAAGTAATAACACATTTATATTTAAAAAAAAAAAAAAAAAGAATATGGCTGAGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTAAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGGCTGGATGCCATGGCTCATGCCTGTAATCTCAAGCACTTTGGGAGGCTGAGGAGGGTGGATCATGAGATCAGGAGATCGAGACCATCCTGGCCAACATGG... | pathogenic | 241,756 |
For chromosome 16, position 1524817, gene IFT140: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Retinal_dystrophy', 'Saldino-Mainzer_syndrome'] | TGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTTTCCACCCTTAGTAGCCCAGTAAAAAATGGCATCTCCGTGAATTTTGATATGTATTTCTATCATGAATAAAGCTAAGCATTTTATATTTGGGAACCACCCATATTTCCATTTGAATAAACTGTTCCTGGCCAGTCACAGGGCTCACATCTACAGTCCCAGTGCTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAGACCCTGAGTCTATGAAAAAAAATTTAAAAAATTAGCTGGGGATG... | TGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTTTCCACCCTTAGTAGCCCAGTAAAAAATGGCATCTCCGTGAATTTTGATATGTATTTCTATCATGAATAAAGCTAAGCATTTTATATTTGGGAACCACCCATATTTCCATTTGAATAAACTGTTCCTGGCCAGTCACAGGGCTCACATCTACAGTCCCAGTGCTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAGACCCTGAGTCTATGAAAAAAAATTTAAAAAATTAGCTGGGGATG... | pathogenic | 241,765 |
Is the genetic mutation found on chromosome 16 at position 1525973, within the gene IFT140 (intraflagellar transport 140), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_80', 'Saldino-Mainzer_syndrome'] | AAGTTCATGAGCTGGTCGTCCAGGCCGTTCTCCTGCAGGGAGGGAGGCAGGGCCCTGAAGCGGCTCCCACTGGCTTCCCCAGGTCCGCTGAGATTCTGGAATGTGGCCGGGTGCGAACCCGCCCCTTCACTTTGACACACTGCTCAGCGATCTCTGCGGTGATGGGTTTTAAGGAGCTGATGACTTACTGGGTTTGTCTACAAGGATTTTCCGATGCTCTGGGTTCTATTTCACAGAGCACTGCAAGAAATACCTGACACGGGAGATGCTTCTGGAAGCGAGAGCCCAGGTTGGGACATTTGTGTGGTGCAGAACGCCCA... | AAGTTCATGAGCTGGTCGTCCAGGCCGTTCTCCTGCAGGGAGGGAGGCAGGGCCCTGAAGCGGCTCCCACTGGCTTCCCCAGGTCCGCTGAGATTCTGGAATGTGGCCGGGTGCGAACCCGCCCCTTCACTTTGACACACTGCTCAGCGATCTCTGCGGTGATGGGTTTTAAGGAGCTGATGACTTACTGGGTTTGTCTACAAGGATTTTCCGATGCTCTGGGTTCTATTTCACAGAGCACTGCAAGAAATACCTGACACGGGAGATGCTTCTGGAAGCGAGAGCCCAGGTTGGGACATTTGTGTGGTGCAGAACGCCCA... | pathogenic | 241,776 |
Classify the chromosome 16 variant at position 1525983 affecting gene IFT140 (intraflagellar transport 140) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_80', 'Saldino-Mainzer_syndrome'] | GCTGGTCGTCCAGGCCGTTCTCCTGCAGGGAGGGAGGCAGGGCCCTGAAGCGGCTCCCACTGGCTTCCCCAGGTCCGCTGAGATTCTGGAATGTGGCCGGGTGCGAACCCGCCCCTTCACTTTGACACACTGCTCAGCGATCTCTGCGGTGATGGGTTTTAAGGAGCTGATGACTTACTGGGTTTGTCTACAAGGATTTTCCGATGCTCTGGGTTCTATTTCACAGAGCACTGCAAGAAATACCTGACACGGGAGATGCTTCTGGAAGCGAGAGCCCAGGTTGGGACATTTGTGTGGTGCAGAACGCCCAACAGCTATCT... | GCTGGTCGTCCAGGCCGTTCTCCTGCAGGGAGGGAGGCAGGGCCCTGAAGCGGCTCCCACTGGCTTCCCCAGGTCCGCTGAGATTCTGGAATGTGGCCGGGTGCGAACCCGCCCCTTCACTTTGACACACTGCTCAGCGATCTCTGCGGTGATGGGTTTTAAGGAGCTGATGACTTACTGGGTTTGTCTACAAGGATTTTCCGATGCTCTGGGTTCTATTTCACAGAGCACTGCAAGAAATACCTGACACGGGAGATGCTTCTGGAAGCGAGAGCCCAGGTTGGGACATTTGTGTGGTGCAGAACGCCCAACAGCTATCT... | pathogenic | 241,778 |
Benign or pathogenic: chromosome 16, position 1525999, gene IFT140 (intraflagellar transport 140) variant? Disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_80', 'Saldino-Mainzer_syndrome'] | GTTCTCCTGCAGGGAGGGAGGCAGGGCCCTGAAGCGGCTCCCACTGGCTTCCCCAGGTCCGCTGAGATTCTGGAATGTGGCCGGGTGCGAACCCGCCCCTTCACTTTGACACACTGCTCAGCGATCTCTGCGGTGATGGGTTTTAAGGAGCTGATGACTTACTGGGTTTGTCTACAAGGATTTTCCGATGCTCTGGGTTCTATTTCACAGAGCACTGCAAGAAATACCTGACACGGGAGATGCTTCTGGAAGCGAGAGCCCAGGTTGGGACATTTGTGTGGTGCAGAACGCCCAACAGCTATCTAGGAAGGGTCTGCCGT... | GTTCTCCTGCAGGGAGGGAGGCAGGGCCCTGAAGCGGCTCCCACTGGCTTCCCCAGGTCCGCTGAGATTCTGGAATGTGGCCGGGTGCGAACCCGCCCCTTCACTTTGACACACTGCTCAGCGATCTCTGCGGTGATGGGTTTTAAGGAGCTGATGACTTACTGGGTTTGTCTACAAGGATTTTCCGATGCTCTGGGTTCTATTTCACAGAGCACTGCAAGAAATACCTGACACGGGAGATGCTTCTGGAAGCGAGAGCCCAGGTTGGGACATTTGTGTGGTGCAGAACGCCCAACAGCTATCTAGGAAGGGTCTGCCGT... | pathogenic | 241,781 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 1526712, gene IFT140 (intraflagellar transport 140): what disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_80', 'Saldino-Mainzer_syndrome'] | AGGTTTCCTGTCTCGTTGGCTATTTGCGCAGCCTAGAAAGACAAAGAACCCAAAGACGAGACACGGTGGCCTTGTGTCTGCCTCGTGTCCGCCTGGCCGGCTCCCCTGCGGGGACCTTACCTTCTGGACATTGCCCTGGAAGCAGTGGATGCGGACCAGGGAGAAGTGGTCCCGGGCCAGCTCGTAGTAGTGCAGCGCGGCGTCCATCTCGCCCTGGCTCTCCAGGTACTGCGCCCACCACCGCCACAGGGTCCTGCGGGCAGCCCAAGACCATGGATTCTCCACCCGAGCCCCGCTCCAACCCGGGACGGCCCCCACCC... | AGGTTTCCTGTCTCGTTGGCTATTTGCGCAGCCTAGAAAGACAAAGAACCCAAAGACGAGACACGGTGGCCTTGTGTCTGCCTCGTGTCCGCCTGGCCGGCTCCCCTGCGGGGACCTTACCTTCTGGACATTGCCCTGGAAGCAGTGGATGCGGACCAGGGAGAAGTGGTCCCGGGCCAGCTCGTAGTAGTGCAGCGCGGCGTCCATCTCGCCCTGGCTCTCCAGGTACTGCGCCCACCACCGCCACAGGGTCCTGCGGGCAGCCCAAGACCATGGATTCTCCACCCGAGCCCCGCTCCAACCCGGGACGGCCCCCACCC... | pathogenic | 241,794 |
Gene IFT140 (intraflagellar transport 140) variant at chromosome 16, position 1558116—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Retinitis_pigmentosa_80', 'Saldino-Mainzer_syndrome'] | TGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAACAAAAAACAAAAACAAAAAACCTTCAGCCTATCTTTAGCGAAATGCTTGGTGGGCTACAAAATTCCTGCATGATGCTGCACTGGGTCCAAACAACCCCGTGTCCTAAATCTGTTAAGAGAGGAACAAGCTGTAAGTCCTTGAGTTGGGCAGAAAACATCTAACATCTACATCTGAGGGGTCAAAACCGGCCCATGCCCCCACCCAGAACCCAGAACCCAAGGCTGCCTGGCCACACTACAACCAGCGCTGCAACCACAGTCCTGGTGCCTGGCCTGGC... | TGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAACAAAAAACAAAAACAAAAAACCTTCAGCCTATCTTTAGCGAAATGCTTGGTGGGCTACAAAATTCCTGCATGATGCTGCACTGGGTCCAAACAACCCCGTGTCCTAAATCTGTTAAGAGAGGAACAAGCTGTAAGTCCTTGAGTTGGGCAGAAAACATCTAACATCTACATCTGAGGGGTCAAAACCGGCCCATGCCCCCACCCAGAACCCAGAACCCAAGGCTGCCTGGCCACACTACAACCAGCGCTGCAACCACAGTCCTGGTGCCTGGCCTGGC... | pathogenic | 241,806 |
Benign or pathogenic: chromosome 16, position 1566293, gene IFT140 (intraflagellar transport 140) variant? Disease(s) if pathogenic? | benign | CTCCAGGTGCTGTCCCAGACCATGGTGTCCACGCGCTCAGCTCTGGGAGAACTTTTGGGGTCTCACTGCCATGCGCCCTACTGGAACATGTTCTCAGATTTTAACAACTGGGCTAAGGGTCCGAGCAAAGCCCAGTTTGAAAGAACCACAAAAAGATGACGCTTTGATTCTGGAGGCCTTATGGGGGCCCAGAAGAATCCCCAAAGCAAAAGGGACCCTTTTCCTTTTCCAGGACCAGCAGGCCAACCTCGAGGTGGGATGGCACCCCCTGCTGGGCGGGGTCGAGGCTTTGGCTCTGTGGTCATGCCGGGTTCCTTGTC... | CTCCAGGTGCTGTCCCAGACCATGGTGTCCACGCGCTCAGCTCTGGGAGAACTTTTGGGGTCTCACTGCCATGCGCCCTACTGGAACATGTTCTCAGATTTTAACAACTGGGCTAAGGGTCCGAGCAAAGCCCAGTTTGAAAGAACCACAAAAAGATGACGCTTTGATTCTGGAGGCCTTATGGGGGCCCAGAAGAATCCCCAAAGCAAAAGGGACCCTTTTCCTTTTCCAGGACCAGCAGGCCAACCTCGAGGTGGGATGGCACCCCCTGCTGGGCGGGGTCGAGGCTTTGGCTCTGTGGTCATGCCGGGTTCCTTGTC... | benign | 241,824 |
Variant at chromosome position 1568343, chromosome 16, gene IFT140 (intraflagellar transport 140): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GGAGAAGAGAAAACCAGAAAGCTCACGGAGCCTGCCCAGACCAGCGGGTTGGTGGGCTGTGCTAGGGGACTGACACAGCACATGTCAAGAGAAACACACCCAGTGTCACCAAGTCCACAGGCCACTCATCTTCCAAGGACTAGCATGCTTTCAATATTCATAATTTGTTGGTTTTGGTGTTTTTTGAGACAGGGTCTCGCTCTGTTGCCCAGGATGGAGTGCAGTGGTGCGATCTTAGCTCACTGCAGCCTCCGCCTCCCGGGCTCAGGTGATCCTCCCACCTCAGCCTCCCCAGCAGCTGGGATTGCAGGTGCGGGATA... | GGAGAAGAGAAAACCAGAAAGCTCACGGAGCCTGCCCAGACCAGCGGGTTGGTGGGCTGTGCTAGGGGACTGACACAGCACATGTCAAGAGAAACACACCCAGTGTCACCAAGTCCACAGGCCACTCATCTTCCAAGGACTAGCATGCTTTCAATATTCATAATTTGTTGGTTTTGGTGTTTTTTGAGACAGGGTCTCGCTCTGTTGCCCAGGATGGAGTGCAGTGGTGCGATCTTAGCTCACTGCAGCCTCCGCCTCCCGGGCTCAGGTGATCCTCCCACCTCAGCCTCCCCAGCAGCTGGGATTGCAGGTGCGGGATA... | benign | 241,829 |
Gene IFT140 (intraflagellar transport 140) variant at chromosome 16, position 1571461—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Retinitis_pigmentosa', 'Saldino-Mainzer_syndrome'] | AAGCTTCTTTCCTTCCTCCCTCCCTCCCTCTTCCCTTCCCTCCCCTCCCTTCCCTTCTCTCCTTCCTTCTTTCCCTCCTCCCTCCCTCCCTTCTTTCCCTTTTTTCTTTCTTTCTTTCTCTCTTTTTGTCTTTTCCCTCCACTCCCCTCCTCTCCCTCCCCTCCCCTTCCTTTTCTCTCTCCCTCTCTCTCTCTGAGACAGGATCTCTCACTCTGTCGCCCAGGCTGTAGTGCAGTGGTGTGATCTTGGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCACCTGAGTAACTGGTACTATA... | AAGCTTCTTTCCTTCCTCCCTCCCTCCCTCTTCCCTTCCCTCCCCTCCCTTCCCTTCTCTCCTTCCTTCTTTCCCTCCTCCCTCCCTCCCTTCTTTCCCTTTTTTCTTTCTTTCTTTCTCTCTTTTTGTCTTTTCCCTCCACTCCCCTCCTCTCCCTCCCCTCCCCTTCCTTTTCTCTCTCCCTCTCTCTCTCTGAGACAGGATCTCTCACTCTGTCGCCCAGGCTGTAGTGCAGTGGTGTGATCTTGGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCACCTGAGTAACTGGTACTATA... | pathogenic | 241,832 |
Is the genetic change at chromosome 16, position 1571534, within gene IFT140 (intraflagellar transport 140) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['IFT140-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa_80', 'Saldino-Mainzer_syndrome'] | CCTCCTCCCTCCCTCCCTTCTTTCCCTTTTTTCTTTCTTTCTTTCTCTCTTTTTGTCTTTTCCCTCCACTCCCCTCCTCTCCCTCCCCTCCCCTTCCTTTTCTCTCTCCCTCTCTCTCTCTGAGACAGGATCTCTCACTCTGTCGCCCAGGCTGTAGTGCAGTGGTGTGATCTTGGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCACCTGAGTAACTGGTACTATAGATGCAAGTCACCATGCCTGGCTAATTTTTTTTTTTTAAGAAATTGGGTTTCACCATGCTGCCCAGGCTGGTC... | CCTCCTCCCTCCCTCCCTTCTTTCCCTTTTTTCTTTCTTTCTTTCTCTCTTTTTGTCTTTTCCCTCCACTCCCCTCCTCTCCCTCCCCTCCCCTTCCTTTTCTCTCTCCCTCTCTCTCTCTGAGACAGGATCTCTCACTCTGTCGCCCAGGCTGTAGTGCAGTGGTGTGATCTTGGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCACCTGAGTAACTGGTACTATAGATGCAAGTCACCATGCCTGGCTAATTTTTTTTTTTTAAGAAATTGGGTTTCACCATGCTGCCCAGGCTGGTC... | pathogenic | 241,835 |
Located at chromosome 16 position 1583365, the variant affecting gene IFT140—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Renal_cyst', 'Retinitis_pigmentosa_80', 'Saldino-Mainzer_syndrome'] | GAGGCGGGCCTGGTGGCTCACACCTGTAATCCCAGCATTTAGGGAGGCTGAAGCAGGTGGATCACATGAGGTCAGGAGTTTGAAACCAGCCTGGCCAACATCGTGGAATGTTGTCTCTACTAAAAATACAAAAATTGGCCAGGTGTTGTGGTGCATGCCTGTAATCCCACCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCAGGAGATGGAGGCTGCAGTGAGCCGCCATCACACCACTGCACTCCAGCCTGGGTGACACAGCAAGACTGTCTCAGAAAGAATCTAGTTAGGGAGATGATAATATACACAAAA... | GAGGCGGGCCTGGTGGCTCACACCTGTAATCCCAGCATTTAGGGAGGCTGAAGCAGGTGGATCACATGAGGTCAGGAGTTTGAAACCAGCCTGGCCAACATCGTGGAATGTTGTCTCTACTAAAAATACAAAAATTGGCCAGGTGTTGTGGTGCATGCCTGTAATCCCACCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCAGGAGATGGAGGCTGCAGTGAGCCGCCATCACACCACTGCACTCCAGCCTGGGTGACACAGCAAGACTGTCTCAGAAAGAATCTAGTTAGGGAGATGATAATATACACAAAA... | pathogenic | 241,847 |
Does the genetic variant at chromosome 16, position 1584214, impacting gene IFT140, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_80', 'Saldino-Mainzer_syndrome'] | AGGTCCTGCTCCCTGGCATGTGTGAATATTACTTTATATGGCAGAAGATGGTAAGGTCTTGGGATGGGGAGATTATACTGAGTTATCCAGGTAGGCCCTAAATACACTCACGAGTGTCCCTGTAAGAGGGAGGGAGGCAGATTTCAGACCAGGGGCAATGTGACCAGAGAGACAGAGACTGGAGGTTTGTGACCACAAGCCAAAGACTGCTGGCAGCCACCAGAAGCTGAAACGGGTTCTCCCCTGGGGCTGCAGAGGAAGCGTGGCCCTGCTGACGCGATCACTTCTGTCCAGTGAAAAGTGAAACTGATTTGGGACCT... | AGGTCCTGCTCCCTGGCATGTGTGAATATTACTTTATATGGCAGAAGATGGTAAGGTCTTGGGATGGGGAGATTATACTGAGTTATCCAGGTAGGCCCTAAATACACTCACGAGTGTCCCTGTAAGAGGGAGGGAGGCAGATTTCAGACCAGGGGCAATGTGACCAGAGAGACAGAGACTGGAGGTTTGTGACCACAAGCCAAAGACTGCTGGCAGCCACCAGAAGCTGAAACGGGTTCTCCCCTGGGGCTGCAGAGGAAGCGTGGCCCTGCTGACGCGATCACTTCTGTCCAGTGAAAAGTGAAACTGATTTGGGACCT... | pathogenic | 241,853 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 1592244, gene IFT140: what disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_80', 'Saldino-Mainzer_syndrome'] | GTCTCAAAAAAAAAAAAAAAAAAAAAATTAAAAATGAAGCATGTGACCTGACCTTACAGGCTGCAACCTCCACTTCATGGGTTCAGCTCAGCCTCAAGCTGTCTCTATGGATTCCTCCTCTGCCCCTGTCTTGGAGGGTTTCACATCCACACTGCTGACCCTGCAGATCTGGCAGCCTCGGAGCTCTGAGTCCACCTCATACCCTCCACACGCTGAGGCCCTAAATGACAAGCCCTCTCTGTGGCCACTACTCCCTGTCCTTTCTGCCCTGGGTGTCGCTGCTGTGCCGCCTGCCTCCTGCCAGGCTCTCTCTGGACCTC... | GTCTCAAAAAAAAAAAAAAAAAAAAAATTAAAAATGAAGCATGTGACCTGACCTTACAGGCTGCAACCTCCACTTCATGGGTTCAGCTCAGCCTCAAGCTGTCTCTATGGATTCCTCCTCTGCCCCTGTCTTGGAGGGTTTCACATCCACACTGCTGACCCTGCAGATCTGGCAGCCTCGGAGCTCTGAGTCCACCTCATACCCTCCACACGCTGAGGCCCTAAATGACAAGCCCTCTCTGTGGCCACTACTCCCTGTCCTTTCTGCCCTGGGTGTCGCTGCTGTGCCGCCTGCCTCCTGCCAGGCTCTCTCTGGACCTC... | pathogenic | 241,886 |
Considering the variant on chromosome 16, location 1592475, involving gene IFT140, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Retinitis_pigmentosa_80', 'Saldino-Mainzer_syndrome'] | GCCCTCTCTGTGGCCACTACTCCCTGTCCTTTCTGCCCTGGGTGTCGCTGCTGTGCCGCCTGCCTCCTGCCAGGCTCTCTCTGGACCTCCCTCTCTCAACCTCCACAAGCTGCTCCTGGCCTAAGCTACAGGACTTAACTGTACCCAGCCTGGAATCCCCCTCTTCCTGCCCTGCCTGAGCCTGCTCCGGTGCTGGCCAGCCACTCTGTCTGCAGGCCCTGTGTGAGCTTGGGGACTCAGGCTCATTTTTGCTGCTCTGTGGAGACTCCTCTGGGAGCCTTCTCACCTGCCCCTCCCCTCTCATCTTTTTCCCGATGGAT... | GCCCTCTCTGTGGCCACTACTCCCTGTCCTTTCTGCCCTGGGTGTCGCTGCTGTGCCGCCTGCCTCCTGCCAGGCTCTCTCTGGACCTCCCTCTCTCAACCTCCACAAGCTGCTCCTGGCCTAAGCTACAGGACTTAACTGTACCCAGCCTGGAATCCCCCTCTTCCTGCCCTGCCTGAGCCTGCTCCGGTGCTGGCCAGCCACTCTGTCTGCAGGCCCTGTGTGAGCTTGGGGACTCAGGCTCATTTTTGCTGCTCTGTGGAGACTCCTCTGGGAGCCTTCTCACCTGCCCCTCCCCTCTCATCTTTTTCCCGATGGAT... | pathogenic | 241,892 |
Is the genetic variant on chromosome 16, position 1602429, gene IFT140, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['IFT140-related_disorder', 'Retinitis_pigmentosa_80', 'Saldino-Mainzer_syndrome'] | CTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAAATGTACACAGGTGCAAAATGGCAAAAGCATAAGGTTACTCACTGCACCATTGTCTAATTAGCAAAAGATTGAAAACCACCAAAATGTTAATCAACAGGGGGCTGGTTCAGTAAATTACAACATTCATATAAAGAAGAGCCGGTTTAAAGAAAACAAGGAAGTTTACTGTTTACCCATATGGAAGAATCACCAGGATACGCTGTAAAATGAAAAAGCAAGAGACA... | CTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAAATGTACACAGGTGCAAAATGGCAAAAGCATAAGGTTACTCACTGCACCATTGTCTAATTAGCAAAAGATTGAAAACCACCAAAATGTTAATCAACAGGGGGCTGGTTCAGTAAATTACAACATTCATATAAAGAAGAGCCGGTTTAAAGAAAACAAGGAAGTTTACTGTTTACCCATATGGAAGAATCACCAGGATACGCTGTAAAATGAAAAAGCAAGAGACA... | pathogenic | 241,901 |
Chromosome 16, position 1602520, gene IFT140: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinal_dystrophy', 'Saldino-Mainzer_syndrome'] | AAAAAATGTACACAGGTGCAAAATGGCAAAAGCATAAGGTTACTCACTGCACCATTGTCTAATTAGCAAAAGATTGAAAACCACCAAAATGTTAATCAACAGGGGGCTGGTTCAGTAAATTACAACATTCATATAAAGAAGAGCCGGTTTAAAGAAAACAAGGAAGTTTACTGTTTACCCATATGGAAGAATCACCAGGATACGCTGTAAAATGAAAAAGCAAGAGACATGACAGTGTGTATAGGATGCCACCACTGATGTGAAAAAGAATGAGGAAATCAGGAGACAATGTCCTCTACGTGATATTTCTGCCAAAAACG... | AAAAAATGTACACAGGTGCAAAATGGCAAAAGCATAAGGTTACTCACTGCACCATTGTCTAATTAGCAAAAGATTGAAAACCACCAAAATGTTAATCAACAGGGGGCTGGTTCAGTAAATTACAACATTCATATAAAGAAGAGCCGGTTTAAAGAAAACAAGGAAGTTTACTGTTTACCCATATGGAAGAATCACCAGGATACGCTGTAAAATGAAAAAGCAAGAGACATGACAGTGTGTATAGGATGCCACCACTGATGTGAAAAAGAATGAGGAAATCAGGAGACAATGTCCTCTACGTGATATTTCTGCCAAAAACG... | pathogenic | 241,905 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 1602567, gene IFT140. What disease(s) is it linked to if pathogenic? | pathogenic; ['Retinitis_pigmentosa_80', 'Saldino-Mainzer_syndrome'] | TGCACCATTGTCTAATTAGCAAAAGATTGAAAACCACCAAAATGTTAATCAACAGGGGGCTGGTTCAGTAAATTACAACATTCATATAAAGAAGAGCCGGTTTAAAGAAAACAAGGAAGTTTACTGTTTACCCATATGGAAGAATCACCAGGATACGCTGTAAAATGAAAAAGCAAGAGACATGACAGTGTGTATAGGATGCCACCACTGATGTGAAAAAGAATGAGGAAATCAGGAGACAATGTCCTCTACGTGATATTTCTGCCAAAAACGTTTGAAATGAAAGTATTATGAGGAGACAAACACAGCCAACTTGAGTG... | TGCACCATTGTCTAATTAGCAAAAGATTGAAAACCACCAAAATGTTAATCAACAGGGGGCTGGTTCAGTAAATTACAACATTCATATAAAGAAGAGCCGGTTTAAAGAAAACAAGGAAGTTTACTGTTTACCCATATGGAAGAATCACCAGGATACGCTGTAAAATGAAAAAGCAAGAGACATGACAGTGTGTATAGGATGCCACCACTGATGTGAAAAAGAATGAGGAAATCAGGAGACAATGTCCTCTACGTGATATTTCTGCCAAAAACGTTTGAAATGAAAGTATTATGAGGAGACAAACACAGCCAACTTGAGTG... | pathogenic | 241,909 |
The genetic variant at chromosome 16, position 1602606, affecting gene IFT140: benign or pathogenic? Disease name(s) if pathogenic? | benign | AAATGTTAATCAACAGGGGGCTGGTTCAGTAAATTACAACATTCATATAAAGAAGAGCCGGTTTAAAGAAAACAAGGAAGTTTACTGTTTACCCATATGGAAGAATCACCAGGATACGCTGTAAAATGAAAAAGCAAGAGACATGACAGTGTGTATAGGATGCCACCACTGATGTGAAAAAGAATGAGGAAATCAGGAGACAATGTCCTCTACGTGATATTTCTGCCAAAAACGTTTGAAATGAAAGTATTATGAGGAGACAAACACAGCCAACTTGAGTGAGAGTCTATAAAACAACCAGTCTACATCCTCAAAATGTA... | AAATGTTAATCAACAGGGGGCTGGTTCAGTAAATTACAACATTCATATAAAGAAGAGCCGGTTTAAAGAAAACAAGGAAGTTTACTGTTTACCCATATGGAAGAATCACCAGGATACGCTGTAAAATGAAAAAGCAAGAGACATGACAGTGTGTATAGGATGCCACCACTGATGTGAAAAAGAATGAGGAAATCAGGAGACAATGTCCTCTACGTGATATTTCTGCCAAAAACGTTTGAAATGAAAGTATTATGAGGAGACAAACACAGCCAACTTGAGTGAGAGTCTATAAAACAACCAGTCTACATCCTCAAAATGTA... | benign | 241,911 |
Variant at chromosome position 1706402, chromosome 16, gene MAPK8IP3 (mitogen-activated protein kinase 8 interacting protein 3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases', 'Neurodevelopmental_disorder_with_or_without_variable_brain_abnormalities%3B_NEDBA'] | GGCCAAGCAGTGGTGGCTTACACCTGTAGACCCAACTACTTAGGAGGCTGAGGTGGGATCACTTGAGCCTAAGAGTTCAAGTGAGCCCTGATCATGCCAGTGCCTCCAGCCTGAGCAACAGGGTGAGACCCTGCCTCTAAAAACTGAACAACAAAAAAAATCAGTAGGGTGTCAGCTACGGGAGTTACTGTTTCGGTGCAATCAGATTAGGATGAGAGGATCTGAACTGATGAGCATTGCAGTAGGTGAAAGACGGTAAGTGGCCATTTCTATTAGCATTAAATAGTCACTGATGTGGTTTCATCAGGATTCACAATACA... | GGCCAAGCAGTGGTGGCTTACACCTGTAGACCCAACTACTTAGGAGGCTGAGGTGGGATCACTTGAGCCTAAGAGTTCAAGTGAGCCCTGATCATGCCAGTGCCTCCAGCCTGAGCAACAGGGTGAGACCCTGCCTCTAAAAACTGAACAACAAAAAAAATCAGTAGGGTGTCAGCTACGGGAGTTACTGTTTCGGTGCAATCAGATTAGGATGAGAGGATCTGAACTGATGAGCATTGCAGTAGGTGAAAGACGGTAAGTGGCCATTTCTATTAGCATTAAATAGTCACTGATGTGGTTTCATCAGGATTCACAATACA... | pathogenic | 241,920 |
A genetic variant at chromosome 16, position 1761218, affecting gene MAPK8IP3 (mitogen-activated protein kinase 8 interacting protein 3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GTGGCGACTTCCCCAAGGGACAGACTTGAAGGCCCGAGGAGGGCAGCCCCAGCCTCTCTGAACCCCACAAGCGCCGGGCAGACCCTGCCTGTGGGGAGGAAGGCCCATGTTTGAGGCAAGGGAGGTCATAATAGAGACAGCAGGCAGGACCCCTGAGCCCAGGCACAGAGGCGTGTGATGCTGTTTCATGACTGCATACACAGTGGGGGAGTGTGTGGGAGGGCAGGACCTTGGAGTTTCTTTCCATCCTTTTGGGGTTTCTGGGGCATGCTTGCAGGGAGATCAGTCCAGGTCCACTTGGGGCCTCGTGGTAGAGGAGC... | GTGGCGACTTCCCCAAGGGACAGACTTGAAGGCCCGAGGAGGGCAGCCCCAGCCTCTCTGAACCCCACAAGCGCCGGGCAGACCCTGCCTGTGGGGAGGAAGGCCCATGTTTGAGGCAAGGGAGGTCATAATAGAGACAGCAGGCAGGACCCCTGAGCCCAGGCACAGAGGCGTGTGATGCTGTTTCATGACTGCATACACAGTGGGGGAGTGTGTGGGAGGGCAGGACCTTGGAGTTTCTTTCCATCCTTTTGGGGTTTCTGGGGCATGCTTGCAGGGAGATCAGTCCAGGTCCACTTGGGGCCTCGTGGTAGAGGAGC... | benign | 241,926 |
Considering the genetic mutation at chromosome 16, position 1986026, impacting GFER (growth factor, augmenter of liver regeneration): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ACCCTCCTGCTCCGTCCCCGCCCCTGTCCTCGGGCCCGGCCAGCGCCGCGGCCTCTGGCTCCGCCTCCACACGGGCCCGCAAGCAGGCACCGCCCCCGACTCTGCCCCCAGCCCCGGCTCGGGCCCGGCCCCCGCGAGCACGGCGCGCGCCTCCGGCTCCTGTGGCCGCGCGCTGGCCTGGAGGCTGACCTGGAGGCTCATCTGGAGGCCGAGCTGACCCGGCAGGCCTTGCGCGGGCAACATGGCGGCGCCCGGCGAGCGGGGCCGCTTCCACGGCGGGAACCTCTTCTTCCTGCCGGGGGGCGCGCGCTCCGAGATGA... | ACCCTCCTGCTCCGTCCCCGCCCCTGTCCTCGGGCCCGGCCAGCGCCGCGGCCTCTGGCTCCGCCTCCACACGGGCCCGCAAGCAGGCACCGCCCCCGACTCTGCCCCCAGCCCCGGCTCGGGCCCGGCCCCCGCGAGCACGGCGCGCGCCTCCGGCTCCTGTGGCCGCGCGCTGGCCTGGAGGCTGACCTGGAGGCTCATCTGGAGGCCGAGCTGACCCGGCAGGCCTTGCGCGGGCAACATGGCGGCGCCCGGCGAGCGGGGCCGCTTCCACGGCGGGAACCTCTTCTTCCTGCCGGGGGGCGCGCGCTCCGAGATGA... | benign | 242,014 |
The mutation impacting NTHL1 (nth like DNA glycosylase 1) on chromosome 16 at position 2040043: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | GCCTGTCTCGGGACCCTGGGACCCCTCCCGCACGGACCTTGGGCCTCAGCCTGCCCCGAGCTCCCCCAGCCTCAGTGGACTGGAGGGTGGTCCTGCCATTGCCCAGAAATCAGCCCCAGCCCCGGTGAGCCCCCATCCTGCCCCTGCCCACCAGGTACTGGGGGCCTGTGGCAGCAAGATAGGGGGAGAGAGACCCAGAGATGTGAGAGAGAGTCAGAGACAGAGACAGAGAGAGAGAGAGAGAGACACAGAGAGAGACAGAGAGAGAGCGAGCGAGCGCGCGGCAGCCGCGGGGCGAGGGCCTTTGCTGCTCTGCCGGG... | GCCTGTCTCGGGACCCTGGGACCCCTCCCGCACGGACCTTGGGCCTCAGCCTGCCCCGAGCTCCCCCAGCCTCAGTGGACTGGAGGGTGGTCCTGCCATTGCCCAGAAATCAGCCCCAGCCCCGGTGAGCCCCCATCCTGCCCCTGCCCACCAGGTACTGGGGGCCTGTGGCAGCAAGATAGGGGGAGAGAGACCCAGAGATGTGAGAGAGAGTCAGAGACAGAGACAGAGAGAGAGAGAGAGAGACACAGAGAGAGACAGAGAGAGAGCGAGCGAGCGCGCGGCAGCCGCGGGGCGAGGGCCTTTGCTGCTCTGCCGGG... | pathogenic | 242,038 |
Clinically, how would you classify the variant at chromosome 16, position 2040134, gene NTHL1 (nth like DNA glycosylase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CCTGCCATTGCCCAGAAATCAGCCCCAGCCCCGGTGAGCCCCCATCCTGCCCCTGCCCACCAGGTACTGGGGGCCTGTGGCAGCAAGATAGGGGGAGAGAGACCCAGAGATGTGAGAGAGAGTCAGAGACAGAGACAGAGAGAGAGAGAGAGAGACACAGAGAGAGACAGAGAGAGAGCGAGCGAGCGCGCGGCAGCCGCGGGGCGAGGGCCTTTGCTGCTCTGCCGGGGCCTGCTGACTGAAAGGAATTTGTGTTTTTGCTTTTTTTCCAAAAAGATCTCCAGCTCCACACATGTTTCCACTTAATACCAGAGACCCCC... | CCTGCCATTGCCCAGAAATCAGCCCCAGCCCCGGTGAGCCCCCATCCTGCCCCTGCCCACCAGGTACTGGGGGCCTGTGGCAGCAAGATAGGGGGAGAGAGACCCAGAGATGTGAGAGAGAGTCAGAGACAGAGACAGAGAGAGAGAGAGAGAGACACAGAGAGAGACAGAGAGAGAGCGAGCGAGCGCGCGGCAGCCGCGGGGCGAGGGCCTTTGCTGCTCTGCCGGGGCCTGCTGACTGAAAGGAATTTGTGTTTTTGCTTTTTTTCCAAAAAGATCTCCAGCTCCACACATGTTTCCACTTAATACCAGAGACCCCC... | pathogenic | 242,039 |
A genetic variant on chromosome 16, position 2040214, affects the gene NTHL1 (nth like DNA glycosylase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | CAGCAAGATAGGGGGAGAGAGACCCAGAGATGTGAGAGAGAGTCAGAGACAGAGACAGAGAGAGAGAGAGAGAGACACAGAGAGAGACAGAGAGAGAGCGAGCGAGCGCGCGGCAGCCGCGGGGCGAGGGCCTTTGCTGCTCTGCCGGGGCCTGCTGACTGAAAGGAATTTGTGTTTTTGCTTTTTTTCCAAAAAGATCTCCAGCTCCACACATGTTTCCACTTAATACCAGAGACCCCCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTGGGACGCGCTCTAAATAATTGCAATAAAACAAACCTTTCTCTGCAAACCA... | CAGCAAGATAGGGGGAGAGAGACCCAGAGATGTGAGAGAGAGTCAGAGACAGAGACAGAGAGAGAGAGAGAGAGACACAGAGAGAGACAGAGAGAGAGCGAGCGAGCGCGCGGCAGCCGCGGGGCGAGGGCCTTTGCTGCTCTGCCGGGGCCTGCTGACTGAAAGGAATTTGTGTTTTTGCTTTTTTTCCAAAAAGATCTCCAGCTCCACACATGTTTCCACTTAATACCAGAGACCCCCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTGGGACGCGCTCTAAATAATTGCAATAAAACAAACCTTTCTCTGCAAACCA... | pathogenic | 242,057 |
Clinically, how would you classify the variant at chromosome 16, position 2043575, gene NTHL1 (nth like DNA glycosylase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | TCGCCTCTGGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGAATTACAGGCTCCTGCCACCACGCCCGGCTAATTTTTTTTTTTTTGGTGAGACGGAGTCACGCTTTGTCGCCCAGGCTGGAGTACACTGGCGCGATCTCAGCTCACTGCAAGCCCCACCTCCCAGGTTCACACTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACAACAGGCGCCTGACACAATGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATCTTAGCCTGGATGGTCTTGATCTCCTGACCTCGTG... | TCGCCTCTGGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGAATTACAGGCTCCTGCCACCACGCCCGGCTAATTTTTTTTTTTTTGGTGAGACGGAGTCACGCTTTGTCGCCCAGGCTGGAGTACACTGGCGCGATCTCAGCTCACTGCAAGCCCCACCTCCCAGGTTCACACTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACAACAGGCGCCTGACACAATGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATCTTAGCCTGGATGGTCTTGATCTCCTGACCTCGTG... | pathogenic | 242,070 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 2043583, gene NTHL1 (nth like DNA glycosylase 1): what disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | GGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGAATTACAGGCTCCTGCCACCACGCCCGGCTAATTTTTTTTTTTTTGGTGAGACGGAGTCACGCTTTGTCGCCCAGGCTGGAGTACACTGGCGCGATCTCAGCTCACTGCAAGCCCCACCTCCCAGGTTCACACTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACAACAGGCGCCTGACACAATGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATCTTAGCCTGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCT... | GGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGAATTACAGGCTCCTGCCACCACGCCCGGCTAATTTTTTTTTTTTTGGTGAGACGGAGTCACGCTTTGTCGCCCAGGCTGGAGTACACTGGCGCGATCTCAGCTCACTGCAAGCCCCACCTCCCAGGTTCACACTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACAACAGGCGCCTGACACAATGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATCTTAGCCTGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCT... | pathogenic | 242,074 |
The mutation in gene NTHL1 (nth like DNA glycosylase 1) at chromosome 16, position 2043625—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_adenomatous_polyposis_3'] | GAATTACAGGCTCCTGCCACCACGCCCGGCTAATTTTTTTTTTTTTGGTGAGACGGAGTCACGCTTTGTCGCCCAGGCTGGAGTACACTGGCGCGATCTCAGCTCACTGCAAGCCCCACCTCCCAGGTTCACACTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACAACAGGCGCCTGACACAATGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATCTTAGCCTGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC... | GAATTACAGGCTCCTGCCACCACGCCCGGCTAATTTTTTTTTTTTTGGTGAGACGGAGTCACGCTTTGTCGCCCAGGCTGGAGTACACTGGCGCGATCTCAGCTCACTGCAAGCCCCACCTCCCAGGTTCACACTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACAACAGGCGCCTGACACAATGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATCTTAGCCTGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC... | pathogenic | 242,080 |
Is the genetic change at chromosome 16, position 2043686, within gene NTHL1 (nth like DNA glycosylase 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_3'] | CGCTTTGTCGCCCAGGCTGGAGTACACTGGCGCGATCTCAGCTCACTGCAAGCCCCACCTCCCAGGTTCACACTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACAACAGGCGCCTGACACAATGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATCTTAGCCTGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCACACCCGGCTAATTTTTGTATTTTTAGTAGAGAGCGGGTTTCACCACGTT... | CGCTTTGTCGCCCAGGCTGGAGTACACTGGCGCGATCTCAGCTCACTGCAAGCCCCACCTCCCAGGTTCACACTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACAACAGGCGCCTGACACAATGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATCTTAGCCTGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCACACCCGGCTAATTTTTGTATTTTTAGTAGAGAGCGGGTTTCACCACGTT... | pathogenic | 242,093 |
Is the variant located on chromosome 16 at position 2043709, gene NTHL1 (nth like DNA glycosylase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | ACACTGGCGCGATCTCAGCTCACTGCAAGCCCCACCTCCCAGGTTCACACTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACAACAGGCGCCTGACACAATGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATCTTAGCCTGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCACACCCGGCTAATTTTTGTATTTTTAGTAGAGAGCGGGTTTCACCACGTTGGCCAGGCTGATCTTGAACTCCT... | ACACTGGCGCGATCTCAGCTCACTGCAAGCCCCACCTCCCAGGTTCACACTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACAACAGGCGCCTGACACAATGCCTGGCTAATTTTTTGTGTTTTTTAGTAGAGACGGGGTTTCACCATCTTAGCCTGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCACACCCGGCTAATTTTTGTATTTTTAGTAGAGAGCGGGTTTCACCACGTTGGCCAGGCTGATCTTGAACTCCT... | pathogenic | 242,098 |
Variant on chromosome 16, at position 2044644, affecting NTHL1 (nth like DNA glycosylase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | TGGCTGGGCCCGGCTGCGTGTGGCCTTAGGAGCCCCAAATCCTCTGGACAAAGCCGAGGAGGAGGCAGCCCCACCCCAAACCCAGGGGTCTGTCTGCACCCAACTGCCAAGAAGCCTCCGGTGCTAGGAAGAGACACCAGGACCTGGGAAAAGGATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCT... | TGGCTGGGCCCGGCTGCGTGTGGCCTTAGGAGCCCCAAATCCTCTGGACAAAGCCGAGGAGGAGGCAGCCCCACCCCAAACCCAGGGGTCTGTCTGCACCCAACTGCCAAGAAGCCTCCGGTGCTAGGAAGAGACACCAGGACCTGGGAAAAGGATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCT... | pathogenic | 242,109 |
Variant at chromosome position 2044685, chromosome 16, gene NTHL1 (nth like DNA glycosylase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_adenomatous_polyposis_3'] | CTCTGGACAAAGCCGAGGAGGAGGCAGCCCCACCCCAAACCCAGGGGTCTGTCTGCACCCAACTGCCAAGAAGCCTCCGGTGCTAGGAAGAGACACCAGGACCTGGGAAAAGGATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCTACCATTCCCCTCCTGTCCCCGCAGAGCCTCCCTCCCCACCC... | CTCTGGACAAAGCCGAGGAGGAGGCAGCCCCACCCCAAACCCAGGGGTCTGTCTGCACCCAACTGCCAAGAAGCCTCCGGTGCTAGGAAGAGACACCAGGACCTGGGAAAAGGATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCTACCATTCCCCTCCTGTCCCCGCAGAGCCTCCCTCCCCACCC... | pathogenic | 242,121 |
Chromosome 16, position 2044694, gene NTHL1 (nth like DNA glycosylase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | AAGCCGAGGAGGAGGCAGCCCCACCCCAAACCCAGGGGTCTGTCTGCACCCAACTGCCAAGAAGCCTCCGGTGCTAGGAAGAGACACCAGGACCTGGGAAAAGGATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCTACCATTCCCCTCCTGTCCCCGCAGAGCCTCCCTCCCCACCCTCCCCCTTT... | AAGCCGAGGAGGAGGCAGCCCCACCCCAAACCCAGGGGTCTGTCTGCACCCAACTGCCAAGAAGCCTCCGGTGCTAGGAAGAGACACCAGGACCTGGGAAAAGGATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCTACCATTCCCCTCCTGTCCCCGCAGAGCCTCCCTCCCCACCCTCCCCCTTT... | pathogenic | 242,126 |
Does the variant on chromosome 16 at location 2044708 affecting gene NTHL1 (nth like DNA glycosylase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GCAGCCCCACCCCAAACCCAGGGGTCTGTCTGCACCCAACTGCCAAGAAGCCTCCGGTGCTAGGAAGAGACACCAGGACCTGGGAAAAGGATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCTACCATTCCCCTCCTGTCCCCGCAGAGCCTCCCTCCCCACCCTCCCCCTTTCTCCCCCCAGCACC... | GCAGCCCCACCCCAAACCCAGGGGTCTGTCTGCACCCAACTGCCAAGAAGCCTCCGGTGCTAGGAAGAGACACCAGGACCTGGGAAAAGGATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCTACCATTCCCCTCCTGTCCCCGCAGAGCCTCCCTCCCCACCCTCCCCCTTTCTCCCCCCAGCACC... | pathogenic | 242,134 |
Variant at chromosome position 2044709, chromosome 16, gene NTHL1 (nth like DNA glycosylase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CAGCCCCACCCCAAACCCAGGGGTCTGTCTGCACCCAACTGCCAAGAAGCCTCCGGTGCTAGGAAGAGACACCAGGACCTGGGAAAAGGATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCTACCATTCCCCTCCTGTCCCCGCAGAGCCTCCCTCCCCACCCTCCCCCTTTCTCCCCCCAGCACCT... | CAGCCCCACCCCAAACCCAGGGGTCTGTCTGCACCCAACTGCCAAGAAGCCTCCGGTGCTAGGAAGAGACACCAGGACCTGGGAAAAGGATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCTACCATTCCCCTCCTGTCCCCGCAGAGCCTCCCTCCCCACCCTCCCCCTTTCTCCCCCCAGCACCT... | pathogenic | 242,135 |
Regarding the variant at chromosome 16 and position 2044726, affecting gene NTHL1 (nth like DNA glycosylase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | CAGGGGTCTGTCTGCACCCAACTGCCAAGAAGCCTCCGGTGCTAGGAAGAGACACCAGGACCTGGGAAAAGGATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCTACCATTCCCCTCCTGTCCCCGCAGAGCCTCCCTCCCCACCCTCCCCCTTTCTCCCCCCAGCACCTCCCTCCCCACCCCACCT... | CAGGGGTCTGTCTGCACCCAACTGCCAAGAAGCCTCCGGTGCTAGGAAGAGACACCAGGACCTGGGAAAAGGATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCTACCATTCCCCTCCTGTCCCCGCAGAGCCTCCCTCCCCACCCTCCCCCTTTCTCCCCCCAGCACCTCCCTCCCCACCCCACCT... | pathogenic | 242,142 |
A genetic variant at chromosome 16, position 2044736, affecting gene NTHL1 (nth like DNA glycosylase 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | TCTGCACCCAACTGCCAAGAAGCCTCCGGTGCTAGGAAGAGACACCAGGACCTGGGAAAAGGATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCTACCATTCCCCTCCTGTCCCCGCAGAGCCTCCCTCCCCACCCTCCCCCTTTCTCCCCCCAGCACCTCCCTCCCCACCCCACCTGCTGAGGGGA... | TCTGCACCCAACTGCCAAGAAGCCTCCGGTGCTAGGAAGAGACACCAGGACCTGGGAAAAGGATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCTACCATTCCCCTCCTGTCCCCGCAGAGCCTCCCTCCCCACCCTCCCCCTTTCTCCCCCCAGCACCTCCCTCCCCACCCCACCTGCTGAGGGGA... | pathogenic | 242,146 |
Determine whether the variant at chromosome 16, position 2044762, in gene NTHL1 (nth like DNA glycosylase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | CGGTGCTAGGAAGAGACACCAGGACCTGGGAAAAGGATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCTACCATTCCCCTCCTGTCCCCGCAGAGCCTCCCTCCCCACCCTCCCCCTTTCTCCCCCCAGCACCTCCCTCCCCACCCCACCTGCTGAGGGGATACTCTTCCTCCTCCCTCCTCAGTCC... | CGGTGCTAGGAAGAGACACCAGGACCTGGGAAAAGGATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCTACCATTCCCCTCCTGTCCCCGCAGAGCCTCCCTCCCCACCCTCCCCCTTTCTCCCCCCAGCACCTCCCTCCCCACCCCACCTGCTGAGGGGATACTCTTCCTCCTCCCTCCTCAGTCC... | pathogenic | 242,151 |
Is the variant located on chromosome 16 at position 2044795, gene NTHL1 (nth like DNA glycosylase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | AGGATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCTACCATTCCCCTCCTGTCCCCGCAGAGCCTCCCTCCCCACCCTCCCCCTTTCTCCCCCCAGCACCTCCCTCCCCACCCCACCTGCTGAGGGGATACTCTTCCTCCTCCCTCCTCAGTCCTTACCTCCCCACTCTGCCCTCATCTCATTCCAG... | AGGATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCTACCATTCCCCTCCTGTCCCCGCAGAGCCTCCCTCCCCACCCTCCCCCTTTCTCCCCCCAGCACCTCCCTCCCCACCCCACCTGCTGAGGGGATACTCTTCCTCCTCCCTCCTCAGTCCTTACCTCCCCACTCTGCCCTCATCTCATTCCAG... | pathogenic | 242,158 |
Classify the chromosome 16 variant at position 2044797 affecting gene NTHL1 (nth like DNA glycosylase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_3', 'Hereditary_cancer-predisposing_syndrome'] | GATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCTACCATTCCCCTCCTGTCCCCGCAGAGCCTCCCTCCCCACCCTCCCCCTTTCTCCCCCCAGCACCTCCCTCCCCACCCCACCTGCTGAGGGGATACTCTTCCTCCTCCCTCCTCAGTCCTTACCTCCCCACTCTGCCCTCATCTCATTCCAGAA... | GATTCAAGGAGGGCCCTCCCCCCAGTGCCTCCCTCCCCACCCTCCCCTCTTCTCCCTCTCAACCCTCCCCTCTTCTCCCCGCAGCACCTCCCTCTCCACCCTCCCCCCATCCTCCCAGCGCCTCCCTCCCCACCCTCCTCCCCCATTCCCCCAGCGCCTCCCTCCCTACCATTCCCCTCCTGTCCCCGCAGAGCCTCCCTCCCCACCCTCCCCCTTTCTCCCCCCAGCACCTCCCTCCCCACCCCACCTGCTGAGGGGATACTCTTCCTCCTCCCTCCTCAGTCCTTACCTCCCCACTCTGCCCTCATCTCATTCCAGAA... | pathogenic | 242,159 |
The mutation impacting NTHL1 (nth like DNA glycosylase 1) on chromosome 16 at position 2046092: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CTGCACCTGCGCCTTCAGGAAGGAGGGCTGGAGCTGGGGCTTCCCCACCAGCTGCCAGGCCTGCCGGGTGGTTCCCATCCTGTGCCTGAGTGGAGAGGGCTATTTAAAACCCATCTGAGAAACTGCGGCCCACGCGGGTGCCAAGGGGAAGCGGCCCCACCCACCAAGCTGCTTTCAACAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCA... | CTGCACCTGCGCCTTCAGGAAGGAGGGCTGGAGCTGGGGCTTCCCCACCAGCTGCCAGGCCTGCCGGGTGGTTCCCATCCTGTGCCTGAGTGGAGAGGGCTATTTAAAACCCATCTGAGAAACTGCGGCCCACGCGGGTGCCAAGGGGAAGCGGCCCCACCCACCAAGCTGCTTTCAACAGATCCGCCCACCACCATCCAGTGCTCGGCGGGGTTGGGGAGCAGCCTCCCCAGGGCTCCTGGAGGGTGAGGGGCTCTGGACAGGAGGGGGTGACACACCGGGAGAGGCTAGCAGTAAACAAAGGGAAAGGCGGGTGGGCA... | benign | 242,163 |
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