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 |
|---|---|---|---|---|---|
Clinically, how would you classify the variant at chromosome 9, position 133356366, gene SURF1: benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTA... | TTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTA... | benign | 153,474 |
A genetic alteration at chromosome 9, position 133356377, in gene SURF1—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCC... | CACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCC... | benign | 153,475 |
Benign or pathogenic: chromosome 9, position 133356409, gene SURF1 (SURF1 cytochrome c oxidase assembly factor) variant? Disease(s) if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | TCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCT... | TCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCT... | pathogenic | 153,477 |
Regarding the variant at chromosome 9 and position 133356426, affecting gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | GGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGAC... | GGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGAC... | pathogenic | 153,479 |
Evaluate this variant at chromosome 9, position 133356440, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | TAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAAT... | TAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAAT... | pathogenic | 153,481 |
Mutation found at chromosome 9 position 133422462, gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic | ATGCAGCCTTCTGTACAAAGGTGCATTCCAGGGAACAAAGAGAACAAAGAAAGAGGTCGTCTTTTGTAGAGAACTTCCTGCCCAGGTTCCCACTTTGGTCCACTTATGCAAATGAGGAAGGCACACTTGCTTAGTTCTGATTGGTTAATACTTGCTGAGTTCAGATTGGTCGATGCAGGTCACAGTCGATGGGTTGATTCTGGCGGCATAAACAGGAACAGATAGCTGTGAAACCATCCCAGAGTTAAGTGAGAGTGGGGGCTTTCCAGGAACGCAGAATGTGTGTGTGACCCTAGTCAGCAAATGGCTGCTAGGTCCTA... | ATGCAGCCTTCTGTACAAAGGTGCATTCCAGGGAACAAAGAGAACAAAGAAAGAGGTCGTCTTTTGTAGAGAACTTCCTGCCCAGGTTCCCACTTTGGTCCACTTATGCAAATGAGGAAGGCACACTTGCTTAGTTCTGATTGGTTAATACTTGCTGAGTTCAGATTGGTCGATGCAGGTCACAGTCGATGGGTTGATTCTGGCGGCATAAACAGGAACAGATAGCTGTGAAACCATCCCAGAGTTAAGTGAGAGTGGGGGCTTTCCAGGAACGCAGAATGTGTGTGTGACCCTAGTCAGCAAATGGCTGCTAGGTCCTA... | pathogenic | 153,488 |
Classify the chromosome 9 variant at position 133428727 affecting gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Upshaw-Schulman_syndrome'] | TTTCTTTACATACACACACATATTTCTTATTTGCAAAATTGGGATTTAGTTTGGATCCCTGAAAAAAAGGAAAATTGTGATTATGCTGTGCATTGCTTTGTTACCTGCTATTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGAAGTTTCGCTCTTGTTGCCCAGGCTGGAGGGCAATGACGTGATCTCAGCTCATTGCAACCTCCACCTCCTGGGTGCAAGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTT... | TTTCTTTACATACACACACATATTTCTTATTTGCAAAATTGGGATTTAGTTTGGATCCCTGAAAAAAAGGAAAATTGTGATTATGCTGTGCATTGCTTTGTTACCTGCTATTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTGAGATGAAGTTTCGCTCTTGTTGCCCAGGCTGGAGGGCAATGACGTGATCTCAGCTCATTGCAACCTCCACCTCCTGGGTGCAAGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTT... | pathogenic | 153,508 |
Regarding the variant at chromosome 9 and position 133436910, affecting gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['ADAMTS13-related_disorder'] | CACGTACCTGAGGCCAGACAACAGGTGTGCTTCCTGCCTGCCTTCCTCCCCCAGCGGCACGTCCCCAAGGCTCACCTGTGTTGTAGCCTGTGTCAGCGCCTCATTCCTCTTTCTGGCTGAATCATATTCCACTGCAGGGATAGACCACATTTTCATCCAGTCGTCTGCTGATGGACATCTGAGGTGTTTTCACCTTTTGGCTCCTGTGAACAGAGCCGCTGCGAATGTGCTTGTACATGTTTGAATCCCTGTTTTCAATTCTTTTGGCAGTATGCTGAAGAGCGGAGTTACTGGATCGTATGGGAATTGTATGTTTGACT... | CACGTACCTGAGGCCAGACAACAGGTGTGCTTCCTGCCTGCCTTCCTCCCCCAGCGGCACGTCCCCAAGGCTCACCTGTGTTGTAGCCTGTGTCAGCGCCTCATTCCTCTTTCTGGCTGAATCATATTCCACTGCAGGGATAGACCACATTTTCATCCAGTCGTCTGCTGATGGACATCTGAGGTGTTTTCACCTTTTGGCTCCTGTGAACAGAGCCGCTGCGAATGTGCTTGTACATGTTTGAATCCCTGTTTTCAATTCTTTTGGCAGTATGCTGAAGAGCGGAGTTACTGGATCGTATGGGAATTGTATGTTTGACT... | pathogenic | 153,526 |
Evaluate the clinical significance of the mutation at chromosome 9, position 133437768 in gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['ADAMTS13-related_disorder', 'Upshaw-Schulman_syndrome'] | GGCGGGGTTTCACCATGTTAGCCGGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGGGCTGAGATCACAGGCGTGAGCCACCGCGCCCAGCATGTTTGGCTTTTAAAGAAACTGCCAAACCGTTTTCCACAGTGCCTGAACTGTTTCACATTCCCACCAGCATTGCGCCAGGGTTCCAGTTTCCCCACATCCGCTGCAGCACTTGCTGTTTTCTGTTGTTGTTTTTTCTTTTCTCTTCTTTTTTTTTTTTTTTTTTTTAATAGAGATGGGGTTTTGTCATGTTGGCCAGGCTGGTCTTGA... | GGCGGGGTTTCACCATGTTAGCCGGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGGGCTGAGATCACAGGCGTGAGCCACCGCGCCCAGCATGTTTGGCTTTTAAAGAAACTGCCAAACCGTTTTCCACAGTGCCTGAACTGTTTCACATTCCCACCAGCATTGCGCCAGGGTTCCAGTTTCCCCACATCCGCTGCAGCACTTGCTGTTTTCTGTTGTTGTTTTTTCTTTTCTCTTCTTTTTTTTTTTTTTTTTTTTAATAGAGATGGGGTTTTGTCATGTTGGCCAGGCTGGTCTTGA... | pathogenic | 153,527 |
Clinically, how would you classify the variant at chromosome 9, position 133449838, gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Thrombotic_thrombocytopenic_purpura'] | CGCCATGATGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCTATTTCTTTTGAGGATATTCCTAAAAGAGAGACTTGAGAAAACTGGCCCTAATAACATCTTTATGATAGACACAATCAGAGATTTTCATATTGTGATTTTTTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTCCAGTGGCGCAGTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCGTCTCAGC... | CGCCATGATGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCTATTTCTTTTGAGGATATTCCTAAAAGAGAGACTTGAGAAAACTGGCCCTAATAACATCTTTATGATAGACACAATCAGAGATTTTCATATTGTGATTTTTTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTCCAGTGGCGCAGTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCGTCTCAGC... | pathogenic | 153,563 |
Is chromosome 9, position 133454567, gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Upshaw-Schulman_syndrome'] | CCACATCACATTTAGAGATGATCTGGGATTTTATGGGAATTGCAGGGTTTTTCACACTGCACGCTGCCTGCATGGTGCTTAAACTTCACCTCCCACACCTAGCACAGCCTACCAGGTAGCCCTGTTCTCTACAGACCACCTCTTGGGCCACTGAGCCTCCCCTCACTTTTTTTTAGAGATGGGGTCTCACTATGTTGCCCAGTCTGGACTTGAATTCCTGGGCTCAAGTGATCCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATGCAGGCACACACTACATGAGCTCTGGCCATCCCTCTGACGTTGCTGTAGCCACGCT... | CCACATCACATTTAGAGATGATCTGGGATTTTATGGGAATTGCAGGGTTTTTCACACTGCACGCTGCCTGCATGGTGCTTAAACTTCACCTCCCACACCTAGCACAGCCTACCAGGTAGCCCTGTTCTCTACAGACCACCTCTTGGGCCACTGAGCCTCCCCTCACTTTTTTTTAGAGATGGGGTCTCACTATGTTGCCCAGTCTGGACTTGAATTCCTGGGCTCAAGTGATCCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATGCAGGCACACACTACATGAGCTCTGGCCATCCCTCTGACGTTGCTGTAGCCACGCT... | pathogenic | 153,576 |
Variant in ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13), chromosome 9, position 133455593—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Upshaw-Schulman_syndrome'] | TCAGCTACTTGGGAGGCTGAGGTGAGAGGATGGCTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCCGTGATCACACCACTGCCCTCCAGCCTGGGTGACAGGGCGAGACCGTGTCTCAAAGAAAACCATTAAAATAAAATAAAAAATAAAATTTCTGCGATGCACACGACAGCCTCCACAGCAAATCAGCATCCAGTTGCTCATGCCAGTGATGCCCCAATGGAGAACAATCCACGCTCTGAGAGGAGGTGGGGTCTGGTTTGGTTCACTGCCACCTCCCAGTGTCATGTAGAACAGTGCCAAGCCGCGGAAGGCACGGG... | TCAGCTACTTGGGAGGCTGAGGTGAGAGGATGGCTTGAACCCTGGAGGTTGAGGCTGCAGTGAGCCGTGATCACACCACTGCCCTCCAGCCTGGGTGACAGGGCGAGACCGTGTCTCAAAGAAAACCATTAAAATAAAATAAAAAATAAAATTTCTGCGATGCACACGACAGCCTCCACAGCAAATCAGCATCCAGTTGCTCATGCCAGTGATGCCCCAATGGAGAACAATCCACGCTCTGAGAGGAGGTGGGGTCTGGTTTGGTTCACTGCCACCTCCCAGTGTCATGTAGAACAGTGCCAAGCCGCGGAAGGCACGGG... | pathogenic | 153,584 |
Chromosome 9, position 133459038, gene ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Upshaw-Schulman_syndrome'] | CCTCTGCCCCACACCCACCTGCCCCGCCCCCACCCCTCCAGCCTTTCAAGGGCTTTTAGGGTTTTGTGGAAGCCACTGTCCCTCAGCCCTGTTTCAGTGCACTGGTGTAAGCAGACATGCTTGTACATGCATGTGCACCCACAAGCACACCTCAGGCAGAGGATGCCACCTCAGGGACTCCAGCCTTGCCCGTGGCCCCCTCGATATCCTCTGATAGCCCTCTCGGTTGTCCTGGGGGGCTTGCCCTCTCCCAACAGCCCGAGCTGGCCGAAGTTGGCTTCCCTAGCTGGTTCCAGAGGTTCCTCGGCTCCCCCAGGTGT... | CCTCTGCCCCACACCCACCTGCCCCGCCCCCACCCCTCCAGCCTTTCAAGGGCTTTTAGGGTTTTGTGGAAGCCACTGTCCCTCAGCCCTGTTTCAGTGCACTGGTGTAAGCAGACATGCTTGTACATGCATGTGCACCCACAAGCACACCTCAGGCAGAGGATGCCACCTCAGGGACTCCAGCCTTGCCCGTGGCCCCCTCGATATCCTCTGATAGCCCTCTCGGTTGTCCTGGGGGGCTTGCCCTCTCCCAACAGCCCGAGCTGGCCGAAGTTGGCTTCCCTAGCTGGTTCCAGAGGTTCCTCGGCTCCCCCAGGTGT... | pathogenic | 153,594 |
Mutation found at chromosome 9 position 133554475, gene ADAMTSL2 (ADAMTS like 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Geleophysic_dysplasia_1', 'Lethal_short-limb_skeletal_dysplasia,_Al_Gazali_type'] | CAGAGGACAAAGGTCAAGTGCTTGGAGTGGTCCAGATGCCTTTATAGTGTATTGTAATTGGGAGCGGGAGCGTAAGTGTAGCCCTGGGTCAAGACTGTAAACACATACGGTTGTCCACCCCAGGGGAATGAAATAGTTTCTGGTCCACCTTCTTGACAGGGATAGAAAAGAACATATTTTCCAGATCAGTGGCCACCTAGGATCAACCTGAGGCCATGCTGATCTGCTCTAGGAGAGAGACCACAGTGATCACATCCTGGCAGTGGAGGCCACCACTTGGTGGAGGGTGCAGCACCCATCCAGACTCGGATGGCAGATCC... | CAGAGGACAAAGGTCAAGTGCTTGGAGTGGTCCAGATGCCTTTATAGTGTATTGTAATTGGGAGCGGGAGCGTAAGTGTAGCCCTGGGTCAAGACTGTAAACACATACGGTTGTCCACCCCAGGGGAATGAAATAGTTTCTGGTCCACCTTCTTGACAGGGATAGAAAAGAACATATTTTCCAGATCAGTGGCCACCTAGGATCAACCTGAGGCCATGCTGATCTGCTCTAGGAGAGAGACCACAGTGATCACATCCTGGCAGTGGAGGCCACCACTTGGTGGAGGGTGCAGCACCCATCCAGACTCGGATGGCAGATCC... | pathogenic | 153,638 |
Is the chromosome 9, position 133575149 variant in ADAMTSL2 (ADAMTS like 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TGGGTCCCAGGGCCAGGGCCTCCCACCCCACCCATCTCAGAGGACAGAGGGCTCAGGTCCCAGACGTGCCTGGATGATGTGGGGTCACCCACATTGGGGGGAGTGTGAGGGAGCCACCGCCTGTGGGATCTTGGCAGGAGGACAGCAGGGTGACTGGGGCCAGCAGATGTCTCTGGTGTTCTGGGGAGCTCAGCGGGGTTTTCCAAGGGGAACATCTGGACGGGGAGCCACTGGAGGGGGTGGTGACTTCGCGAGATGCATTTGATCGGCCCACAACAAACAGTCTGCACCACAGACCCAGGAAAGCTGGGGCCAGAGGA... | TGGGTCCCAGGGCCAGGGCCTCCCACCCCACCCATCTCAGAGGACAGAGGGCTCAGGTCCCAGACGTGCCTGGATGATGTGGGGTCACCCACATTGGGGGGAGTGTGAGGGAGCCACCGCCTGTGGGATCTTGGCAGGAGGACAGCAGGGTGACTGGGGCCAGCAGATGTCTCTGGTGTTCTGGGGAGCTCAGCGGGGTTTTCCAAGGGGAACATCTGGACGGGGAGCCACTGGAGGGGGTGGTGACTTCGCGAGATGCATTTGATCGGCCCACAACAAACAGTCTGCACCACAGACCCAGGAAAGCTGGGGCCAGAGGA... | benign | 153,644 |
Variant on chromosome 9, at position 133656586, affecting DBH: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Orthostatic_hypotension_1'] | TGACAAGTGTCCTAGGTTCCTGATCACAAACTCAGGGTGGAGACAGGACAGCTTTGTCAGTCCTTTATTCTCTCTAGAGGAGGTGCTCAGTATATCACAGCAGTGGCTGATGTCGGGTGCTTGCCACAGCTCAGCACTGCTCTAATAACTCATCCTAACCACACCAAGCCTTGCTGAGACCTCTGAGCAATCCCACCAGGAGATACAGTGAGGTCCAGCCACTCAGGCCACACAGCGAACAGGAGGCAGGGCTGGTATGGGTGCAGGTGCCAACCCCGACTGTGCCGCCTCTCGGCTAAGCACCTGTGCAGTGACTGAGT... | TGACAAGTGTCCTAGGTTCCTGATCACAAACTCAGGGTGGAGACAGGACAGCTTTGTCAGTCCTTTATTCTCTCTAGAGGAGGTGCTCAGTATATCACAGCAGTGGCTGATGTCGGGTGCTTGCCACAGCTCAGCACTGCTCTAATAACTCATCCTAACCACACCAAGCCTTGCTGAGACCTCTGAGCAATCCCACCAGGAGATACAGTGAGGTCCAGCCACTCAGGCCACACAGCGAACAGGAGGCAGGGCTGGTATGGGTGCAGGTGCCAACCCCGACTGTGCCGCCTCTCGGCTAAGCACCTGTGCAGTGACTGAGT... | pathogenic | 153,693 |
Variant on chromosome 9, at position 134727340, affecting COL5A1 (collagen type V alpha 1 chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1'] | TAGAGTGGGGATTAGTCGGACACAATTCATAGGGTTCTTGAGGGCACAGAGAGACCAGGTGCAGGCTCTTTACCTTGTACTTGATCTGTGGTAAACATGATCTAATTCGTCATCACTGTCATTACTATAATCATTACTATATTGGTCGGCTTCTATGCATCTGATTATGGTCAAAAGATCCTCTGCTTTGGAACACCCAGGGTGCTGCCAGGGTGACTCCTAGCGTGCCTGTCATCTTCATCTCTGCAGATAGCGTTTATGAGACCTGCATTTCTTATTCCTACTAGCAGCCCTTTTATTTCTCCTGTGTACACATTGTG... | TAGAGTGGGGATTAGTCGGACACAATTCATAGGGTTCTTGAGGGCACAGAGAGACCAGGTGCAGGCTCTTTACCTTGTACTTGATCTGTGGTAAACATGATCTAATTCGTCATCACTGTCATTACTATAATCATTACTATATTGGTCGGCTTCTATGCATCTGATTATGGTCAAAAGATCCTCTGCTTTGGAACACCCAGGGTGCTGCCAGGGTGACTCCTAGCGTGCCTGTCATCTTCATCTCTGCAGATAGCGTTTATGAGACCTGCATTTCTTATTCCTACTAGCAGCCCTTTTATTTCTCCTGTGTACACATTGTG... | pathogenic | 153,829 |
Gene mutation in COL5A1 (collagen type V alpha 1 chain) at chromosome 9, position 134728728—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type', 'Ehlers-Danlos_syndrome,_classic_type,_1', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | GTGAATGGATGGAAGGACTGGTAGATGTAGATGGATAGGTGGACAGATGGGTGAATGGATGAATGAAAGAGTGGATGGATGGATGGATGGATGGGTAGATGGATGGAAGCATGTATATATGCAGATGGATTGATGGATGAGTGAATGAGTGGACAGATGGAAGGATGGATAGATGGTTTATGGATGGATGGATAGGTGAATGGGTGAATGGATGGATAGATGGATGGATGGGTGGATGGGTGAATGGGTGGGTGAATGGATGGAAGGACTGGTAGATGTAGATGGATAGGTGGATAGATGGGTGAATGGATGAACGAATG... | GTGAATGGATGGAAGGACTGGTAGATGTAGATGGATAGGTGGACAGATGGGTGAATGGATGAATGAAAGAGTGGATGGATGGATGGATGGATGGGTAGATGGATGGAAGCATGTATATATGCAGATGGATTGATGGATGAGTGAATGAGTGGACAGATGGAAGGATGGATAGATGGTTTATGGATGGATGGATAGGTGAATGGGTGAATGGATGGATAGATGGATGGATGGGTGGATGGGTGAATGGGTGGGTGAATGGATGGAAGGACTGGTAGATGTAGATGGATAGGTGGATAGATGGGTGAATGGATGAACGAATG... | pathogenic | 153,848 |
Does the variant on chromosome 9 at location 134732063 affecting gene COL5A1 (collagen type V alpha 1 chain) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TGGGGGCTTGCAGCTGGGCTGCCTTCTTCCCACTTGCTCTGCCCCCAAGCCCCATGGATGGGGGCGGCCCCTGCACCCAAGAGGTCTCTGGGCCTCTTGACAGGCCTGGGCTCCAGGCGTTGCCACTGAGATGCCTGCACCCGGACATGCGGCAAGTCCCAGACCTGGCACCACTGCCGGCCTCCGCCCTGACTCCAGCTGTCTCTGTCCTTGGCTCCCAGGAGCTGACCCCGACCCCCACGGAAGCTGCTCCCATGCCTGAAACCAGTGAAGGGGCTGGGAAGGAAGAGGACGTCGGCATCGGGGACTATGACTACGTG... | TGGGGGCTTGCAGCTGGGCTGCCTTCTTCCCACTTGCTCTGCCCCCAAGCCCCATGGATGGGGGCGGCCCCTGCACCCAAGAGGTCTCTGGGCCTCTTGACAGGCCTGGGCTCCAGGCGTTGCCACTGAGATGCCTGCACCCGGACATGCGGCAAGTCCCAGACCTGGCACCACTGCCGGCCTCCGCCCTGACTCCAGCTGTCTCTGTCCTTGGCTCCCAGGAGCTGACCCCGACCCCCACGGAAGCTGCTCCCATGCCTGAAACCAGTGAAGGGGCTGGGAAGGAAGAGGACGTCGGCATCGGGGACTATGACTACGTG... | benign | 153,908 |
Is the genetic variant on chromosome 9, position 134732098, gene COL5A1 (collagen type V alpha 1 chain), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1'] | GCTCTGCCCCCAAGCCCCATGGATGGGGGCGGCCCCTGCACCCAAGAGGTCTCTGGGCCTCTTGACAGGCCTGGGCTCCAGGCGTTGCCACTGAGATGCCTGCACCCGGACATGCGGCAAGTCCCAGACCTGGCACCACTGCCGGCCTCCGCCCTGACTCCAGCTGTCTCTGTCCTTGGCTCCCAGGAGCTGACCCCGACCCCCACGGAAGCTGCTCCCATGCCTGAAACCAGTGAAGGGGCTGGGAAGGAAGAGGACGTCGGCATCGGGGACTATGACTACGTGCCCAGTGAGGACTACTACACGCCCTCACCGTATGA... | GCTCTGCCCCCAAGCCCCATGGATGGGGGCGGCCCCTGCACCCAAGAGGTCTCTGGGCCTCTTGACAGGCCTGGGCTCCAGGCGTTGCCACTGAGATGCCTGCACCCGGACATGCGGCAAGTCCCAGACCTGGCACCACTGCCGGCCTCCGCCCTGACTCCAGCTGTCTCTGTCCTTGGCTCCCAGGAGCTGACCCCGACCCCCACGGAAGCTGCTCCCATGCCTGAAACCAGTGAAGGGGCTGGGAAGGAAGAGGACGTCGGCATCGGGGACTATGACTACGTGCCCAGTGAGGACTACTACACGCCCTCACCGTATGA... | pathogenic | 153,910 |
Benign or pathogenic: chromosome 9, position 134738455, gene COL5A1 (collagen type V alpha 1 chain) variant? Disease(s) if pathogenic? | benign | CCTGTCATCAAGAGCCCACTCCCACCCTAACGAGCCCGCTCCCATCGTAGCTGCATTCACCCATCCAGGAAGGCAGAGCCTGGTGACCTAATCACCTCCTGAAGATCCCACCTCTCAACACGGTTGCATTGAGGATTCAGTTTCCAACACATGACTTTTGGGGAGACACATTCAAACCCTAGCACATTCTGTCCCAGCCCCCAAATTCATGTCCTTCTCACATACAGTTTACATTCACTCCATCCGGTACCCACATCATCTCAAAAGTTCGAAGTCCAGAGTCTCACCCAAATCAGGTACTGATGAGACTTAGGCTCAAA... | CCTGTCATCAAGAGCCCACTCCCACCCTAACGAGCCCGCTCCCATCGTAGCTGCATTCACCCATCCAGGAAGGCAGAGCCTGGTGACCTAATCACCTCCTGAAGATCCCACCTCTCAACACGGTTGCATTGAGGATTCAGTTTCCAACACATGACTTTTGGGGAGACACATTCAAACCCTAGCACATTCTGTCCCAGCCCCCAAATTCATGTCCTTCTCACATACAGTTTACATTCACTCCATCCGGTACCCACATCATCTCAAAAGTTCGAAGTCCAGAGTCTCACCCAAATCAGGTACTGATGAGACTTAGGCTCAAA... | benign | 153,914 |
Gene COL5A1 (collagen type V alpha 1 chain) variant at chromosome position 134750543 on chromosome 9: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1'] | GGTTTGGTTTGGAATTGATTCCGACACAGGAATCTCAGCTGTAAGTGGCTATGAGGATTGTATGTCAATGACAAAACCTGGGCGGCAAACATGTTTTGGATCTTTATTTTTTAAACACGATTTTTGTCTTCTGAGAGTGTTTTCCAAAATGGCAGTTGGGAGCAATTGGGCAGTATCCATTAGCAATTCAGAAATATACACATATATACATTCTTTGACCCAGCAGCACTGCTTTGAGGGACTTACCTAGTAGAATATGTTAGCACGTCTGTCGGGCAGTGTTTGTCATAATGCAAACTGGAACCAATCCAACGTGCATC... | GGTTTGGTTTGGAATTGATTCCGACACAGGAATCTCAGCTGTAAGTGGCTATGAGGATTGTATGTCAATGACAAAACCTGGGCGGCAAACATGTTTTGGATCTTTATTTTTTAAACACGATTTTTGTCTTCTGAGAGTGTTTTCCAAAATGGCAGTTGGGAGCAATTGGGCAGTATCCATTAGCAATTCAGAAATATACACATATATACATTCTTTGACCCAGCAGCACTGCTTTGAGGGACTTACCTAGTAGAATATGTTAGCACGTCTGTCGGGCAGTGTTTGTCATAATGCAAACTGGAACCAATCCAACGTGCATC... | pathogenic | 153,930 |
Variant at chromosome position 134750549, chromosome 9, gene COL5A1 (collagen type V alpha 1 chain): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1'] | GTTTGGAATTGATTCCGACACAGGAATCTCAGCTGTAAGTGGCTATGAGGATTGTATGTCAATGACAAAACCTGGGCGGCAAACATGTTTTGGATCTTTATTTTTTAAACACGATTTTTGTCTTCTGAGAGTGTTTTCCAAAATGGCAGTTGGGAGCAATTGGGCAGTATCCATTAGCAATTCAGAAATATACACATATATACATTCTTTGACCCAGCAGCACTGCTTTGAGGGACTTACCTAGTAGAATATGTTAGCACGTCTGTCGGGCAGTGTTTGTCATAATGCAAACTGGAACCAATCCAACGTGCATCGGCAGA... | GTTTGGAATTGATTCCGACACAGGAATCTCAGCTGTAAGTGGCTATGAGGATTGTATGTCAATGACAAAACCTGGGCGGCAAACATGTTTTGGATCTTTATTTTTTAAACACGATTTTTGTCTTCTGAGAGTGTTTTCCAAAATGGCAGTTGGGAGCAATTGGGCAGTATCCATTAGCAATTCAGAAATATACACATATATACATTCTTTGACCCAGCAGCACTGCTTTGAGGGACTTACCTAGTAGAATATGTTAGCACGTCTGTCGGGCAGTGTTTGTCATAATGCAAACTGGAACCAATCCAACGTGCATCGGCAGA... | pathogenic | 153,932 |
A genetic variant at chromosome 9, position 134758233, affecting gene COL5A1 (collagen type V alpha 1 chain)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CTGTGTCCATAGCTGGCCATCAGGAACAGGGCATCTGCTCACCGTGCAGATGCTGCCTCCCGTCGCTGTGTGGTCTGAGTGAGACTGGGCCTCACTTGGGGCCTGGGCCTCTTCCTTAGCCAAGTGGACAAACCAGATGTGTCCTTTCTCTCTTTCCTCTGACCTCCAAATGGTGGAAAGGAGCTGTGCTGTCTGTGATGTCAGTGGCCTGCACTCGCCTGAGTCCTAAATTCACGGTCCCCTAGACTGACGCAGCTCCTCCAGCCGGGTCTCCTCTGCCACATTGTGGCGTCTTCTCGAAGCCCAGGGGCAGTGGCGTG... | CTGTGTCCATAGCTGGCCATCAGGAACAGGGCATCTGCTCACCGTGCAGATGCTGCCTCCCGTCGCTGTGTGGTCTGAGTGAGACTGGGCCTCACTTGGGGCCTGGGCCTCTTCCTTAGCCAAGTGGACAAACCAGATGTGTCCTTTCTCTCTTTCCTCTGACCTCCAAATGGTGGAAAGGAGCTGTGCTGTCTGTGATGTCAGTGGCCTGCACTCGCCTGAGTCCTAAATTCACGGTCCCCTAGACTGACGCAGCTCCTCCAGCCGGGTCTCCTCTGCCACATTGTGGCGTCTTCTCGAAGCCCAGGGGCAGTGGCGTG... | benign | 153,978 |
Evaluate the clinical significance of the mutation at chromosome 9, position 134761923 in gene COL5A1 (collagen type V alpha 1 chain): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1'] | CACACACCACACAGGCACACACACACCCATGCACCCCCACACTCATACATGCACACACACGCATACATACCCCCACACCCCCACACTCATGCACACATGCACACACATGCACACCCACACACCCCACACTCATACACACATGCACACACACCCACGCACACACGCACATACACACCCACACACCCCCACACTCATACATGCACACACGCATACACGCCCACACACCCCCACACTCATACACGCCCACACACCCCCACACTCACATGTGCAGACACCACACATGCACACACATACATGCACACACACATACACCCCCACAC... | CACACACCACACAGGCACACACACACCCATGCACCCCCACACTCATACATGCACACACACGCATACATACCCCCACACCCCCACACTCATGCACACATGCACACACATGCACACCCACACACCCCACACTCATACACACATGCACACACACCCACGCACACACGCACATACACACCCACACACCCCCACACTCATACATGCACACACGCATACACGCCCACACACCCCCACACTCATACACGCCCACACACCCCCACACTCACATGTGCAGACACCACACATGCACACACATACATGCACACACACATACACCCCCACAC... | pathogenic | 153,996 |
A genetic variant on chromosome 9, position 134763717, affects the gene COL5A1 (collagen type V alpha 1 chain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1'] | CTTGCGCTGCTGGGTGCTCAGTCCAGCACCCTCCTACCTTCAGGCCATCGTGGTGAGACTCAGGTGAGAGTCTGCAGCCTGCATTAGCCCGGCTGAGGCACACGTGATCTTCTAAGGAAAATTCCCCCATTCTGGAAGGGTCTTTTGAGAGCTTGGGAATCTTACTGTCAGAATTAGAGAAAAACAAAGTGGGACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTC... | CTTGCGCTGCTGGGTGCTCAGTCCAGCACCCTCCTACCTTCAGGCCATCGTGGTGAGACTCAGGTGAGAGTCTGCAGCCTGCATTAGCCCGGCTGAGGCACACGTGATCTTCTAAGGAAAATTCCCCCATTCTGGAAGGGTCTTTTGAGAGCTTGGGAATCTTACTGTCAGAATTAGAGAAAAACAAAGTGGGACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTC... | pathogenic | 154,009 |
The mutation in gene COL5A1 (collagen type V alpha 1 chain) at chromosome 9, position 134767019—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1'] | TACCTGGGGTGAAGCCTCTGTAATTCTCCGTGGGTGGGGGGTGTGAGTGCCCTGTGGCAGGCAGTTCTCCCGGAATCTCACTCCACCTGCGGTAAAGGGGAGGTTCTGCACGAGCCTCGCCGACCGGAGAGGGCGTGCCAGCTCTTGCCCAGAGTAGCGTCCTGGAAAAGATCTGTACCCCACGCCTCCTTCTGCACATTCAGTCTTGGGGTTCCCACCAGGGACTAGTTTCACCTGGTGCTCTCCTGCCCGCACCCTCTGACCCTGTGATATCATAAAAACAATCGTATGTCGCTGCGGAGGGGAATTCAGGAGCGAGC... | TACCTGGGGTGAAGCCTCTGTAATTCTCCGTGGGTGGGGGGTGTGAGTGCCCTGTGGCAGGCAGTTCTCCCGGAATCTCACTCCACCTGCGGTAAAGGGGAGGTTCTGCACGAGCCTCGCCGACCGGAGAGGGCGTGCCAGCTCTTGCCCAGAGTAGCGTCCTGGAAAAGATCTGTACCCCACGCCTCCTTCTGCACATTCAGTCTTGGGGTTCCCACCAGGGACTAGTTTCACCTGGTGCTCTCCTGCCCGCACCCTCTGACCCTGTGATATCATAAAAACAATCGTATGTCGCTGCGGAGGGGAATTCAGGAGCGAGC... | pathogenic | 154,035 |
Gene COL5A1 (collagen type V alpha 1 chain) variant at chromosome 9, position 134796894—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Ehlers-Danlos_syndrome', 'Ehlers-Danlos_syndrome,_classic_type,_1'] | ATTGGATTTCAGCAGGACTTGTGCAGGAGTGCAAAGCTGTGTGTGTCGGGTGTGCGGTGAGCTTCTCGCCCTGATAAATCTCCTATTAAAACACGGAAAAGGTGGGTGGCGGGGAGGCCCAGGTTCCTCCTATCCTGCTCTGAATTCACAGTCTCTCAATAACCCGGGAGACAGCTGCCACCTGAGCAGGGCCGGGCATTTAGAGAGTGACTGACCAGCCCCTTCTCTGATTCTAGGGGACCCCTGGAAAGCCAGGACCGCGGGGGCAGCGAGGCCCAACGGTAACCACCCTTTCAGCTTGTGGGCATGTTTGGGAAACG... | ATTGGATTTCAGCAGGACTTGTGCAGGAGTGCAAAGCTGTGTGTGTCGGGTGTGCGGTGAGCTTCTCGCCCTGATAAATCTCCTATTAAAACACGGAAAAGGTGGGTGGCGGGGAGGCCCAGGTTCCTCCTATCCTGCTCTGAATTCACAGTCTCTCAATAACCCGGGAGACAGCTGCCACCTGAGCAGGGCCGGGCATTTAGAGAGTGACTGACCAGCCCCTTCTCTGATTCTAGGGGACCCCTGGAAAGCCAGGACCGCGGGGGCAGCGAGGCCCAACGGTAACCACCCTTTCAGCTTGTGGGCATGTTTGGGAAACG... | pathogenic | 154,156 |
Does the variant impacting COL5A1 (collagen type V alpha 1 chain) on chromosome 9, position 134798460, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ehlers-Danlos_syndrome', 'Ehlers-Danlos_syndrome,_classic_type,_1'] | TGAACGGGTAAGCAGCTGGAGCCTTCGGGGGTGTCTCCAAGGGCAGAGCCTGCCTCGAATGCCCCCTGCACTTTGTCCTGGGGTGGGCTGGGGCCAGGGAGGCACGCCTCAGACCCTGCTGAAGGGTAGGGTTTTCCTAAGATCCCAAGGGTGGGTCACGCCCTGGGAGTGAACTCTTCCGTAGGTCAGGGGCCTCGACCGCAGCCCTGGTCTTGGGGTTTGGGAGTGGCCGAGATGACAGGAAATGGGTCCTGGGCCCCATCCTGCCCCCGAGGGTGAGGCAGGGTGAGGGAGGGGCTGGAATAATGGAGGAAAGGCCA... | TGAACGGGTAAGCAGCTGGAGCCTTCGGGGGTGTCTCCAAGGGCAGAGCCTGCCTCGAATGCCCCCTGCACTTTGTCCTGGGGTGGGCTGGGGCCAGGGAGGCACGCCTCAGACCCTGCTGAAGGGTAGGGTTTTCCTAAGATCCCAAGGGTGGGTCACGCCCTGGGAGTGAACTCTTCCGTAGGTCAGGGGCCTCGACCGCAGCCCTGGTCTTGGGGTTTGGGAGTGGCCGAGATGACAGGAAATGGGTCCTGGGCCCCATCCTGCCCCCGAGGGTGAGGCAGGGTGAGGGAGGGGCTGGAATAATGGAGGAAAGGCCA... | pathogenic | 154,165 |
Variant in COL5A1 (collagen type V alpha 1 chain), chromosome 9, position 134801982—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1'] | CTTCCGGCTGCCTTCTGCCACCCCGGCCACCTCTCTAGACACATGGCGCTGGAGTGATGCCTGTGTCTCTGAGAGCCACTTGGGACATAGCATCTCCTCCATGGGCTAGTCCAGACAAGCCTTCCAGAAAGAGCTTCTCTGCAGTGTTGATTTCCTTCTTTTTTAAAAATATGAAACACCAACGGTCATTATTTCTCCTAAATGTGAGCCAGAAACTTATTTCTCAGCAAAGGGCTAAGGTCATATTCTGTCCTCAACAGCCAGGGTGGCCGAGGGCCCTGGGGAGGCCTTTTTTGTTTCGTGTTAACTTTGACATTAGC... | CTTCCGGCTGCCTTCTGCCACCCCGGCCACCTCTCTAGACACATGGCGCTGGAGTGATGCCTGTGTCTCTGAGAGCCACTTGGGACATAGCATCTCCTCCATGGGCTAGTCCAGACAAGCCTTCCAGAAAGAGCTTCTCTGCAGTGTTGATTTCCTTCTTTTTTAAAAATATGAAACACCAACGGTCATTATTTCTCCTAAATGTGAGCCAGAAACTTATTTCTCAGCAAAGGGCTAAGGTCATATTCTGTCCTCAACAGCCAGGGTGGCCGAGGGCCCTGGGGAGGCCTTTTTTGTTTCGTGTTAACTTTGACATTAGC... | pathogenic | 154,167 |
Is the variant located on chromosome 9 at position 134802944, gene COL5A1 (collagen type V alpha 1 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | CCTCAGGGCCAGCCACCTTCTCCTCCAGCGTCTAGAGTTTGCCTCGAGGCCTCCGGGTAGAAGGTGTGCATGTCTCCACCAGTGTCATGTGGCACCTGCAGATGGCTTCTCGCTGGCACCTGTCATGCTCTGCAGACGTGCCTGGAAAAGAAGCTTATGTTGCCTTAAGGTCATCTTTCTCCTTTGAGGGAGAGTACAGAAGTCGTGGCGACACCCACAGCCAAGCCAGGATCGTTATCTACGCGTGAGCATGCAGAGCGGGCGTGAGATATTCCCGCTGAATCAAGCTAAAAATAACGCATCCAAGCTGCCGAGTTATG... | CCTCAGGGCCAGCCACCTTCTCCTCCAGCGTCTAGAGTTTGCCTCGAGGCCTCCGGGTAGAAGGTGTGCATGTCTCCACCAGTGTCATGTGGCACCTGCAGATGGCTTCTCGCTGGCACCTGTCATGCTCTGCAGACGTGCCTGGAAAAGAAGCTTATGTTGCCTTAAGGTCATCTTTCTCCTTTGAGGGAGAGTACAGAAGTCGTGGCGACACCCACAGCCAAGCCAGGATCGTTATCTACGCGTGAGCATGCAGAGCGGGCGTGAGATATTCCCGCTGAATCAAGCTAAAAATAACGCATCCAAGCTGCCGAGTTATG... | pathogenic | 154,180 |
Gene COL5A1 (collagen type V alpha 1 chain) variant at chromosome 9, position 134809165—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TTTTGCAGTGTCCCCTACCTCTGCATTCAATCAGCTCTGGAGACCAATTTAATCTCAACTTCTCCTTCCCAGTACAGAGGGTCAGAATGAGCTTGAGTTCTCCAGGGGAATTGGCAGATAATCGGTGCAGACCATCTCAAATTGAGTTAGGTCTGAGTGCTGATTGTTAGAAAGCTGTTTTCTTTCTCTTTTTTTGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGTGACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAG... | TTTTGCAGTGTCCCCTACCTCTGCATTCAATCAGCTCTGGAGACCAATTTAATCTCAACTTCTCCTTCCCAGTACAGAGGGTCAGAATGAGCTTGAGTTCTCCAGGGGAATTGGCAGATAATCGGTGCAGACCATCTCAAATTGAGTTAGGTCTGAGTGCTGATTGTTAGAAAGCTGTTTTCTTTCTCTTTTTTTGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGTGACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAG... | benign | 154,218 |
Variant at chromosome 9, position 134812606, gene COL5A1 (collagen type V alpha 1 chain): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type', 'Ehlers-Danlos_syndrome,_classic_type,_1'] | GAGTGTTTCTGTCCTAGAGGGCTTGGGTTCTGCAGACACACCCATTGCCCTCTGAGGTGAGGGAACCAGAATGCTCCGGCAGAGACAGCACCATTGACCAAATGCCTGTTCATTTTTCCCCTTTTGGTTTTTTCATCTGTTCAGAAATCCTAGTGGGTTCTTGCAAAAACCCCATGACTCTGCTACCAGCTCCCTCCCGATGAGTGACATGTCTTCTTATCCTGTACAGCCAGGCCTTTCCCCCAGTATGTTGATTCCTAGGCAAGCAGGATCCGTGCTCCTGGGAGGCCTGCCACAGAGGCTGTGTCCTTCTTCCAGCC... | GAGTGTTTCTGTCCTAGAGGGCTTGGGTTCTGCAGACACACCCATTGCCCTCTGAGGTGAGGGAACCAGAATGCTCCGGCAGAGACAGCACCATTGACCAAATGCCTGTTCATTTTTCCCCTTTTGGTTTTTTCATCTGTTCAGAAATCCTAGTGGGTTCTTGCAAAAACCCCATGACTCTGCTACCAGCTCCCTCCCGATGAGTGACATGTCTTCTTATCCTGTACAGCCAGGCCTTTCCCCCAGTATGTTGATTCCTAGGCAAGCAGGATCCGTGCTCCTGGGAGGCCTGCCACAGAGGCTGTGTCCTTCTTCCAGCC... | pathogenic | 154,266 |
Is the chromosome 9, position 134815604 variant in COL5A1 (collagen type V alpha 1 chain) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Ehlers-Danlos_syndrome', 'Ehlers-Danlos_syndrome,_classic_type,_1', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | TCTGTTCACCTGCTGCCACTGTGCATGCCCTCTTCCCTGCGTCCCTCTGGCCTGTGTCCCTGAGGACTGCGTGCCTGTCCTCCTGCCTCGGCCCTGGCCATCCCCCACCTGGAGTGCCATCCTAGCCACTTACCAGCTTCTCATAGTTGCCCTCCACAACCCTTGGAGCAGCGCTCCGGGAAAGCCTTCACAGACAGTGTTGCTTGCAGTCTGGACACTCTGCCCTGTATCCATCACGTGCCTGCCACATTCCTCACGCACCTCCAATTCTGGGAGTGTGTGGGGACAGCACTCCCCAGAAACCCCTGGGTCCTGGGTGC... | TCTGTTCACCTGCTGCCACTGTGCATGCCCTCTTCCCTGCGTCCCTCTGGCCTGTGTCCCTGAGGACTGCGTGCCTGTCCTCCTGCCTCGGCCCTGGCCATCCCCCACCTGGAGTGCCATCCTAGCCACTTACCAGCTTCTCATAGTTGCCCTCCACAACCCTTGGAGCAGCGCTCCGGGAAAGCCTTCACAGACAGTGTTGCTTGCAGTCTGGACACTCTGCCCTGTATCCATCACGTGCCTGCCACATTCCTCACGCACCTCCAATTCTGGGAGTGTGTGGGGACAGCACTCCCCAGAAACCCCTGGGTCCTGGGTGC... | pathogenic | 154,302 |
Chromosome 9, position 134817028, gene COL5A1 (collagen type V alpha 1 chain): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1'] | GCGGTGCACTCTGCTCTGAGAACAGCTTCAAGACCATTCCATGTGTTGGGTAAATTTTCTAGACACTAGAGGTTTTCATACCAGCTACTGAACCAAAATAGTGGAGATGAGACAGGGCGTGGACTGGAGGAGAAAGCCCTGAGTGATTCTTCTCTGTGGGCCAGGCGGCCGGCTGAGATGCACGAGTGACAGCCAGGCTTTGGGAAGTTGCCCCCGCCCTTGGCCGGCCCTGATTTTGCATCAGGAGGGGCTTCGGAGAGGCACATTCCGGAAGTCTGAAGGTCCAGGTTCTAGTTGCAGCCTGGAGCTCCCAGGAATAG... | GCGGTGCACTCTGCTCTGAGAACAGCTTCAAGACCATTCCATGTGTTGGGTAAATTTTCTAGACACTAGAGGTTTTCATACCAGCTACTGAACCAAAATAGTGGAGATGAGACAGGGCGTGGACTGGAGGAGAAAGCCCTGAGTGATTCTTCTCTGTGGGCCAGGCGGCCGGCTGAGATGCACGAGTGACAGCCAGGCTTTGGGAAGTTGCCCCCGCCCTTGGCCGGCCCTGATTTTGCATCAGGAGGGGCTTCGGAGAGGCACATTCCGGAAGTCTGAAGGTCCAGGTTCTAGTTGCAGCCTGGAGCTCCCAGGAATAG... | pathogenic | 154,314 |
The genetic variant at chromosome 9, position 134823462, affecting gene COL5A1: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Ehlers-Danlos_syndrome', 'Ehlers-Danlos_syndrome,_classic_type,_1', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | ACGGCCATCAGCCCTCCGCTACCCTCGCCCCCAGCTTCTGCCCGGAGAGAGCTCTGAGTGGAATCCAGGGCTGTAGGGAGAGAGGCTGCAGGTGGCTCCAGCTGCCCGTGGCAAAGCTGGTCAAAGCTGTTCTGTGCCAGCAGCTCAGTCTGGGAGGGAGTCAGTGGGGAGAAGGGGTCTGAGCGGAGGTTCCACGCTCCAAGGATGCAGAAAGCACATTTACAGGCAGGACAGGACAGTCAGCATGGATGGGACTCCCTGCCCAACCCCTCCGGGCTTAGTTCTAGAGGGGAGACTAACACCATGAGCAGGAAACAGCA... | ACGGCCATCAGCCCTCCGCTACCCTCGCCCCCAGCTTCTGCCCGGAGAGAGCTCTGAGTGGAATCCAGGGCTGTAGGGAGAGAGGCTGCAGGTGGCTCCAGCTGCCCGTGGCAAAGCTGGTCAAAGCTGTTCTGTGCCAGCAGCTCAGTCTGGGAGGGAGTCAGTGGGGAGAAGGGGTCTGAGCGGAGGTTCCACGCTCCAAGGATGCAGAAAGCACATTTACAGGCAGGACAGGACAGTCAGCATGGATGGGACTCCCTGCCCAACCCCTCCGGGCTTAGTTCTAGAGGGGAGACTAACACCATGAGCAGGAAACAGCA... | pathogenic | 154,410 |
Benign or pathogenic: chromosome 9, position 134824592, gene COL5A1 variant? Disease(s) if pathogenic? | benign | CACATTGCTGGGAGACCCAGCATTCCCAGGGCATCCCCACAGCCGCTGGGCTGCAGGTACACATGGCCCCCGGGGGCCCCTGGCACGCTGAGGGCTGGCCCCTGCTGTGTGCTATCAGGGCTGGGGGGTGCATTCCATCAGCCCCTTCTGAGCCAGGACATGCTCTTTTCCGCTGCGCCCCCCCCGCGGCTGTCTGAGCTGGGGTTTCCTAGCCAGGGTGGGTGGTAGGCTGGCCGGGGGCAGGTAGGACCACCCTGTGTCTCCACGAGGGGTGAGCACCAGCCAGGCCCCGACCCTCCTCCCACTCTAGCCGGGCAAAT... | CACATTGCTGGGAGACCCAGCATTCCCAGGGCATCCCCACAGCCGCTGGGCTGCAGGTACACATGGCCCCCGGGGGCCCCTGGCACGCTGAGGGCTGGCCCCTGCTGTGTGCTATCAGGGCTGGGGGGTGCATTCCATCAGCCCCTTCTGAGCCAGGACATGCTCTTTTCCGCTGCGCCCCCCCCGCGGCTGTCTGAGCTGGGGTTTCCTAGCCAGGGTGGGTGGTAGGCTGGCCGGGGGCAGGTAGGACCACCCTGTGTCTCCACGAGGGGTGAGCACCAGCCAGGCCCCGACCCTCCTCCCACTCTAGCCGGGCAAAT... | benign | 154,416 |
A genetic alteration at chromosome 9, position 134824865, in gene COL5A1—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GAGCACCAGCCAGGCCCCGACCCTCCTCCCACTCTAGCCGGGCAAATACAAGCATAGACTCTTGAGGGGGATGCGGGTGGGAGAGGGGCGAGGGGCGAGACCAGGCTGGGCAGGACATGGAGCACGGTGGGGCTGGAGCTGAGACCCGGCTTGCTGACGTTCTGCCCTCCTCTCTCTGCAGGGTCCGCCTGGTCCAAAAGGTGCTAAGGGCTCCTCGGTAAGTAACATGCTGCCCAGCCAGGCCAATGCCTGGAAGGTAGGGGAGGGCGACGGGTCCCCTGGCACGGGAACAAACTACCCAGACAACCGTCCTAGCTCAG... | GAGCACCAGCCAGGCCCCGACCCTCCTCCCACTCTAGCCGGGCAAATACAAGCATAGACTCTTGAGGGGGATGCGGGTGGGAGAGGGGCGAGGGGCGAGACCAGGCTGGGCAGGACATGGAGCACGGTGGGGCTGGAGCTGAGACCCGGCTTGCTGACGTTCTGCCCTCCTCTCTCTGCAGGGTCCGCCTGGTCCAAAAGGTGCTAAGGGCTCCTCGGTAAGTAACATGCTGCCCAGCCAGGCCAATGCCTGGAAGGTAGGGGAGGGCGACGGGTCCCCTGGCACGGGAACAAACTACCCAGACAACCGTCCTAGCTCAG... | benign | 154,436 |
Does the variant on chromosome 9 at location 134825862 affecting gene COL5A1 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Ehlers-Danlos_syndrome', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | ATATGTGCATGCATGTGTAATGTGTGTGTACATGGTTTGTATGTGCATGTGTGTGTGCATGATGTGTGTATGGGTATGCATGCATATATGTGGGGCACATATGTGTGTGCATGTGTAGTGTGTGTATATTGTATACGTGCATGCATGGCCGTGTGTGTGTGCATATGTATATGTGTACATGCATGTCTGGGATATATGTGCATGTGTGTGTGTGTGTTGGGATGGGGGAGCACTAGACAAGGCCCTGGAGGTGAAAGGTGAAGCCCAGTTTGAACCAGGGCATGGCGAGTGCACTATTGGACACCCCCCTTTGGTTGTGG... | ATATGTGCATGCATGTGTAATGTGTGTGTACATGGTTTGTATGTGCATGTGTGTGTGCATGATGTGTGTATGGGTATGCATGCATATATGTGGGGCACATATGTGTGTGCATGTGTAGTGTGTGTATATTGTATACGTGCATGCATGGCCGTGTGTGTGTGCATATGTATATGTGTACATGCATGTCTGGGATATATGTGCATGTGTGTGTGTGTGTTGGGATGGGGGAGCACTAGACAAGGCCCTGGAGGTGAAAGGTGAAGCCCAGTTTGAACCAGGGCATGGCGAGTGCACTATTGGACACCCCCCTTTGGTTGTGG... | pathogenic | 154,449 |
Considering the variant on chromosome 9, location 134835190, involving gene COL5A1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1', 'Fibromuscular_dysplasia,_multifocal'] | CCTGCAGAGAGGGTCCTTCAAGGTCCTGCCTAGGCCAGGAGAGATGTGTGCTTCATTTCGGGGAGCTAAGATGCATCGATGTCCCCTGGAAGTGTCAGGTTTTTCAGAAACCTTGAGTTGGCAACAGAGATGCAAAAGTGAGATGCATCATGGCTCAGGATGCCCTGCACGGGCCTTGCACCTGGTGGAGCTGAGCAGCCCAGTCCTGGATACCCAGCTAGTGATGCTGGAGAGGCCACCTAAGAAGCTGCACATTGTCCTCTGATGCCTTCCCTGGATTTGTGCAGAGACTGGGAGGGCTTTCAGGGAGGATCAGTGTC... | CCTGCAGAGAGGGTCCTTCAAGGTCCTGCCTAGGCCAGGAGAGATGTGTGCTTCATTTCGGGGAGCTAAGATGCATCGATGTCCCCTGGAAGTGTCAGGTTTTTCAGAAACCTTGAGTTGGCAACAGAGATGCAAAAGTGAGATGCATCATGGCTCAGGATGCCCTGCACGGGCCTTGCACCTGGTGGAGCTGAGCAGCCCAGTCCTGGATACCCAGCTAGTGATGCTGGAGAGGCCACCTAAGAAGCTGCACATTGTCCTCTGATGCCTTCCCTGGATTTGTGCAGAGACTGGGAGGGCTTTCAGGGAGGATCAGTGTC... | pathogenic | 154,487 |
Clinically, how would you classify the variant at chromosome 9, position 134835204, gene COL5A1: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | CCTTCAAGGTCCTGCCTAGGCCAGGAGAGATGTGTGCTTCATTTCGGGGAGCTAAGATGCATCGATGTCCCCTGGAAGTGTCAGGTTTTTCAGAAACCTTGAGTTGGCAACAGAGATGCAAAAGTGAGATGCATCATGGCTCAGGATGCCCTGCACGGGCCTTGCACCTGGTGGAGCTGAGCAGCCCAGTCCTGGATACCCAGCTAGTGATGCTGGAGAGGCCACCTAAGAAGCTGCACATTGTCCTCTGATGCCTTCCCTGGATTTGTGCAGAGACTGGGAGGGCTTTCAGGGAGGATCAGTGTCATCAGAGTCCCGGG... | CCTTCAAGGTCCTGCCTAGGCCAGGAGAGATGTGTGCTTCATTTCGGGGAGCTAAGATGCATCGATGTCCCCTGGAAGTGTCAGGTTTTTCAGAAACCTTGAGTTGGCAACAGAGATGCAAAAGTGAGATGCATCATGGCTCAGGATGCCCTGCACGGGCCTTGCACCTGGTGGAGCTGAGCAGCCCAGTCCTGGATACCCAGCTAGTGATGCTGGAGAGGCCACCTAAGAAGCTGCACATTGTCCTCTGATGCCTTCCCTGGATTTGTGCAGAGACTGGGAGGGCTTTCAGGGAGGATCAGTGTCATCAGAGTCCCGGG... | pathogenic | 154,488 |
Gene mutation in KCNT1 (potassium sodium-activated channel subfamily T member 1) at chromosome 9, position 135702420—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AAGGGGGAGGTGGAGACCCTTCCTCTTTCACGGAGGTTGCGGGGGGCCCTCAGGGAAGCAGAGGGGACGAGGGTGGGGGGTGAGGCTGGACTGTTGGGAGGACATCCCTGGCCTGGCTCGTGCTGAGGTCGTAGCGGGAGGAGGTGGGGTGGGTGGCAGGGGCTCTCCTCCCGAGAGGGGAGGCAAGAAGGAGCCCGGGCAGGTGCCACCACACGGGGACGTCTGTCCGGGGTGCCCCAGTCTCCTGTGGAGAAGGCGCGGCTCTGGGCCTCGGGCTGGCATCCTGGACTTTGGGCCAAAGATGGGTGAAGGGTGTTTGG... | AAGGGGGAGGTGGAGACCCTTCCTCTTTCACGGAGGTTGCGGGGGGCCCTCAGGGAAGCAGAGGGGACGAGGGTGGGGGGTGAGGCTGGACTGTTGGGAGGACATCCCTGGCCTGGCTCGTGCTGAGGTCGTAGCGGGAGGAGGTGGGGTGGGTGGCAGGGGCTCTCCTCCCGAGAGGGGAGGCAAGAAGGAGCCCGGGCAGGTGCCACCACACGGGGACGTCTGTCCGGGGTGCCCCAGTCTCCTGTGGAGAAGGCGCGGCTCTGGGCCTCGGGCTGGCATCCTGGACTTTGGGCCAAAGATGGGTGAAGGGTGTTTGG... | benign | 154,561 |
Determine whether the variant at chromosome 9, position 135714735, in gene KCNT1 (potassium sodium-activated channel subfamily T member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GTAGCCCCGGCCCTCAGTCCCAGCCCTCAGCCAACACAACAGCCAAGGATTTTAGCCCCGGCCCTCAGCCAACACAACAGCGAAGTATTTTCAAGGTTTCTGGCTCTGTGGGGGGAACAAGGCAGGATGCCAGGAGGCCTGCAGGACACCTGCTTATGGCCGTGTGCTCGCTCAAGTGTCAAAGCAGCTTCCCAAGGGAAGAAGGGCATCTTGTCCTTGTCACCCTCCCCAGGCCACATCTGGGGAGCAGGGGTGGGGCCAGGTCTCTGGACTCCTGGTGCACTTCCTTCCCCTGGTGACTCCTGAAGCAAGCCAAGGTC... | GTAGCCCCGGCCCTCAGTCCCAGCCCTCAGCCAACACAACAGCCAAGGATTTTAGCCCCGGCCCTCAGCCAACACAACAGCGAAGTATTTTCAAGGTTTCTGGCTCTGTGGGGGGAACAAGGCAGGATGCCAGGAGGCCTGCAGGACACCTGCTTATGGCCGTGTGCTCGCTCAAGTGTCAAAGCAGCTTCCCAAGGGAAGAAGGGCATCTTGTCCTTGTCACCCTCCCCAGGCCACATCTGGGGAGCAGGGGTGGGGCCAGGTCTCTGGACTCCTGGTGCACTTCCTTCCCCTGGTGACTCCTGAAGCAAGCCAAGGTC... | benign | 154,572 |
Evaluate if the mutation on chromosome 9 at position 135750081 in KCNT1 (potassium sodium-activated channel subfamily T member 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CTAAGTTCAAACGATTCTCCTGCCTCAGCCTCCCCAGAAGCTGGGACTACAGGCACGTGCCGCCATGCCTGGCTACTTTTTATTGAGACGGGGGTCTTGCTATGTTGTCTAGGCTGGTCTCAAACTCCCGGCCTCAAGCGATCCTCCCACCTCTGCCTCCCAAGTTCCTGGGATTATGGGCACGAGCCACTGTGACCGGCCCCTGGCCCCTTCTTGAGCTCTGTAACCAGCAGAGGCCACTGGGGCAGATCAAGGCAGGTGCTGGGACTCTACCAAGGCCCCTCCCGCCCGCCCCACAGCAGCCCCACCACGAAGGCTGC... | CTAAGTTCAAACGATTCTCCTGCCTCAGCCTCCCCAGAAGCTGGGACTACAGGCACGTGCCGCCATGCCTGGCTACTTTTTATTGAGACGGGGGTCTTGCTATGTTGTCTAGGCTGGTCTCAAACTCCCGGCCTCAAGCGATCCTCCCACCTCTGCCTCCCAAGTTCCTGGGATTATGGGCACGAGCCACTGTGACCGGCCCCTGGCCCCTTCTTGAGCTCTGTAACCAGCAGAGGCCACTGGGGCAGATCAAGGCAGGTGCTGGGACTCTACCAAGGCCCCTCCCGCCCGCCCCACAGCAGCCCCACCACGAAGGCTGC... | benign | 154,576 |
Does the variant on chromosome 9 at location 135757001 affecting gene KCNT1 (potassium sodium-activated channel subfamily T member 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CTCCTTATGGTCCCCTCCAAAGGCAAGGTAGGCTCCTTTGGTCCAGCCCCAATGAGCAGCACATGCTTGGGGCCAGTGGAGGCCAATGGTTATGGCCCCAGCCCCAGGGTGGCTGGGGGACACTAGTGGCTGTGGTGCCCTACTGTGCTGCCTCCTTTCTCTTCCCAGGGCTCCTATTCTGTGGGTGGAGAGAAAGATGACACTGTGGGCGATCCAGGTGAGTGCCCTACCCTGCCCCCCTCCCGACTGCAGTGGTGCTCAGTAAGCACTGAGGACCAACCCAGACTCAGTAAGTAGGGAACCCAGGCTCGGTGAGCACT... | CTCCTTATGGTCCCCTCCAAAGGCAAGGTAGGCTCCTTTGGTCCAGCCCCAATGAGCAGCACATGCTTGGGGCCAGTGGAGGCCAATGGTTATGGCCCCAGCCCCAGGGTGGCTGGGGGACACTAGTGGCTGTGGTGCCCTACTGTGCTGCCTCCTTTCTCTTCCCAGGGCTCCTATTCTGTGGGTGGAGAGAAAGATGACACTGTGGGCGATCCAGGTGAGTGCCCTACCCTGCCCCCCTCCCGACTGCAGTGGTGCTCAGTAAGCACTGAGGACCAACCCAGACTCAGTAAGTAGGGAACCCAGGCTCGGTGAGCACT... | benign | 154,612 |
Assess the variant on chromosome 9, position 135765749, impacting KCNT1 (potassium sodium-activated channel subfamily T member 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTG... | CAACCCAGGGTGACCTTATCTTAAATCATTACATCTGCAGAGACCTATTTCCAATCAGATCACATGGCGAGGTTCTGGGCAGATAGGACTTTTAGGGTCACTACGGAGCTGCCGTCATTAGCTCCTTCATCCTCACGGCGGCCCTGGAGGGTTGCCGTGCCATGCAGCCATCTTGTAGGTGAGGAAGCTGAGGCTCAGAGTGGGGGACGTGAGCCCTGGGGTGTCTGACAGCAGAGCCCCCGCCAGCACCATCCGCGGGGAAGCCTCTGTTCCGGTCGCCCTGGAGTCTTGAGCACCTCCCAGCTGTGGAAACTGTTTTG... | benign | 154,682 |
Considering the genetic mutation at chromosome 9, position 135770059, impacting KCNT1 (potassium sodium-activated channel subfamily T member 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TGACCCCTGCCCCCACCCGCTGTCAGCCTGCACACGCTCAGGGGACAGGTGTGGCTCCTGAACCCTGCCCCCACCCTCTGTCAGCCTGCACACGCTCGGGGGACAGGTGTGGCTCCTGTGCCTTCTCGAGTGTCGGAGCTTGGAGTCTCCTAGGGTGTCCAGGAGTCCTGACCCGGCTCAGAGCCTGCCAGGGATGGGCCAGGGAGTCTGGAGAGGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACA... | TGACCCCTGCCCCCACCCGCTGTCAGCCTGCACACGCTCAGGGGACAGGTGTGGCTCCTGAACCCTGCCCCCACCCTCTGTCAGCCTGCACACGCTCGGGGGACAGGTGTGGCTCCTGTGCCTTCTCGAGTGTCGGAGCTTGGAGTCTCCTAGGGTGTCCAGGAGTCCTGACCCGGCTCAGAGCCTGCCAGGGATGGGCCAGGGAGTCTGGAGAGGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACA... | benign | 154,717 |
Is chromosome 9, position 135770071, gene KCNT1 (potassium sodium-activated channel subfamily T member 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CCACCCGCTGTCAGCCTGCACACGCTCAGGGGACAGGTGTGGCTCCTGAACCCTGCCCCCACCCTCTGTCAGCCTGCACACGCTCGGGGGACAGGTGTGGCTCCTGTGCCTTCTCGAGTGTCGGAGCTTGGAGTCTCCTAGGGTGTCCAGGAGTCCTGACCCGGCTCAGAGCCTGCCAGGGATGGGCCAGGGAGTCTGGAGAGGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGG... | CCACCCGCTGTCAGCCTGCACACGCTCAGGGGACAGGTGTGGCTCCTGAACCCTGCCCCCACCCTCTGTCAGCCTGCACACGCTCGGGGGACAGGTGTGGCTCCTGTGCCTTCTCGAGTGTCGGAGCTTGGAGTCTCCTAGGGTGTCCAGGAGTCCTGACCCGGCTCAGAGCCTGCCAGGGATGGGCCAGGGAGTCTGGAGAGGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGG... | benign | 154,718 |
Regarding the variant at chromosome 9 and position 135770273, affecting gene KCNT1 (potassium sodium-activated channel subfamily T member 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTC... | GGCCCAGGATGCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTC... | benign | 154,722 |
Does the chromosome 9 mutation at position 135770283 within gene KCNT1 (potassium sodium-activated channel subfamily T member 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTCCGCACCCCCG... | GCCTGCGGGGGGGGGGGGGGGGGCACTGGGATACCGGTGGGGGGGGCACAGGGATGCCTGCTGGTGGAGGGCACACAAGGATGCCCGTGGGGGACACTGTGATGTGGGTTGGGGGGGGGGGGGGCAGTATGGGGATGCCCACTGAGGGGGCACTGTGACTCCTGACCAGCAGAGAGTAGGGGCCTCCTCCCGCCTTCCATCCTCCCCGCCTTCCATCCTCTCCGCCTTCCATCCAGCCGTCCTCTCAGTCTCTTTCTGTGCACCTGCTGCACCAGCCTCCTCCCAGAGGAGGTCCTCCCCACCTCACCTCCGCACCCCCG... | benign | 154,725 |
Mutation at chromosome 9, position 135777529, within KCNT1 (potassium sodium-activated channel subfamily T member 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CCTGGTTTCTCTTTGGTCACTTTACATTTCGATACCATTGCAAACTTCTAGCACAGCTGCAAGAATTCTGCAAGGGAGAGCCACAGATCCTTCACCCAGATTCAGCAGACGGTCCCTTCCTGTCCCGTTTGGGCTCTCCCTCTCACAGTGTCTATGTTAGAGGCACCTGTTTTCTGAGCCATCTTGAGAACAGGTTGGAGCCACCACACCCCTTTCCCCTAATACATCTACATGCGTTCCCAAAGATCAAGAACCATCTCGTAACTACAGCTCATTAGGACAGGGACCCCGGCCCGGCATGGGTGTCTGATCCACAGTCC... | CCTGGTTTCTCTTTGGTCACTTTACATTTCGATACCATTGCAAACTTCTAGCACAGCTGCAAGAATTCTGCAAGGGAGAGCCACAGATCCTTCACCCAGATTCAGCAGACGGTCCCTTCCTGTCCCGTTTGGGCTCTCCCTCTCACAGTGTCTATGTTAGAGGCACCTGTTTTCTGAGCCATCTTGAGAACAGGTTGGAGCCACCACACCCCTTTCCCCTAATACATCTACATGCGTTCCCAAAGATCAAGAACCATCTCGTAACTACAGCTCATTAGGACAGGGACCCCGGCCCGGCATGGGTGTCTGATCCACAGTCC... | benign | 154,817 |
Is the genetic variant on chromosome 9, position 135784482, gene KCNT1 (potassium sodium-activated channel subfamily T member 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTT... | CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTT... | benign | 154,860 |
The genetic variant at chromosome 9, position 135784482, affecting gene KCNT1 (potassium sodium-activated channel subfamily T member 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTT... | CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTT... | benign | 154,861 |
Variant in KCNT1 (potassium sodium-activated channel subfamily T member 1), chromosome 9, position 135784482—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTT... | CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTT... | benign | 154,862 |
The mutation impacting KCNT1 (potassium sodium-activated channel subfamily T member 1) on chromosome 9 at position 135784482: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTT... | CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTT... | benign | 154,863 |
The chromosome 9, position 135784482 genetic variant in gene KCNT1 (potassium sodium-activated channel subfamily T member 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTT... | CTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTT... | benign | 154,864 |
Evaluate the clinical significance of the mutation at chromosome 9, position 135784631 in gene KCNT1 (potassium sodium-activated channel subfamily T member 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | CGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTTCTGGAATTTCACGTTCGTCTCCGCGAAGTACGGCTGGAATTCTGGATGCAAATCACCACGATTGCAAACTCACACGCCCATCGCAGCTCATCGCACCTGGTTCTTGCCCCAAGAGCGGAAACGCCGCACGAAACTAATTCCACTGTTTC... | CGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTTCTGGAATTTCACGTTCGTCTCCGCGAAGTACGGCTGGAATTCTGGATGCAAATCACCACGATTGCAAACTCACACGCCCATCGCAGCTCATCGCACCTGGTTCTTGCCCCAAGAGCGGAAACGCCGCACGAAACTAATTCCACTGTTTC... | benign | 154,871 |
Regarding the variant at chromosome 9 and position 135786170, affecting gene KCNT1 (potassium sodium-activated channel subfamily T member 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTAT... | CCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTAT... | benign | 154,888 |
Mutation at chromosome 9, position 135786170, within KCNT1 (potassium sodium-activated channel subfamily T member 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTAT... | CCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTAT... | benign | 154,889 |
Evaluate the clinical significance of the mutation at chromosome 9, position 135786170 in gene KCNT1 (potassium sodium-activated channel subfamily T member 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | CCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTAT... | CCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTAT... | benign | 154,890 |
Does the variant impacting KCNT1 (potassium sodium-activated channel subfamily T member 1) on chromosome 9, position 135786170, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTAT... | CCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTAT... | benign | 154,891 |
Regarding the variant at chromosome 9 and position 136197220, affecting gene LHX3 (LIM homeobox 3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GGCAAGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCGGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATTTAAAAAAAAACCACACAACTGGTCCCAACCAGTTCCCCCCAAAAGATGGCTGGTCCTGGAGAGACTTGGAAGTCTGCAGCTCAGAGCAGCTTCCCTTGGCCACATTCTGGAGGGGCCTCCGCACCCTTACTGGGGGAACTGAGGCCAGTGCAAAGGTCCCCATGAAAGGCATGGGGACTCCTCCACCTTCCCTCCCCGTCCACTGAGAAATAGGGAGCCCAGGC... | GGCAAGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCGGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATTTAAAAAAAAACCACACAACTGGTCCCAACCAGTTCCCCCCAAAAGATGGCTGGTCCTGGAGAGACTTGGAAGTCTGCAGCTCAGAGCAGCTTCCCTTGGCCACATTCTGGAGGGGCCTCCGCACCCTTACTGGGGGAACTGAGGCCAGTGCAAAGGTCCCCATGAAAGGCATGGGGACTCCTCCACCTTCCCTCCCCGTCCACTGAGAAATAGGGAGCCCAGGC... | benign | 154,971 |
Determine whether the variant at chromosome 9, position 136198796, in gene LHX3 (LIM homeobox 3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Combined_pituitary_hormone_deficiencies,_genetic_form', 'Non-acquired_combined_pituitary_hormone_deficiency_with_spine_abnormalities'] | AAGGTGGGGCTGGAGGCAGAGAGGCCCCCTGTGGTCTGGGGAGAGGAGGGGGCCTCTCCCGGAGGACACAGGTGTGTCCCCGCCTCTGCAGCCTCTTGCCTCGACAGGCAAGGCCAATCTCCGACCTAAAGAGGGAGCCTCGGGGTGACGGCTCCAAGACACATGGAGCCTGGGAAGTGAAAGCACAATTATGATGATTTCTCAGTTTTAGAGATGAAAGCGTTTTTCCAGCCCTCGGGCTATGCTGGGCTGGGCTGGGCCTCAGCAAGGTGACATTTCATGTCTAGAAATAGCAGCAAGTGCTCAGTTAATTGGTCAAT... | AAGGTGGGGCTGGAGGCAGAGAGGCCCCCTGTGGTCTGGGGAGAGGAGGGGGCCTCTCCCGGAGGACACAGGTGTGTCCCCGCCTCTGCAGCCTCTTGCCTCGACAGGCAAGGCCAATCTCCGACCTAAAGAGGGAGCCTCGGGGTGACGGCTCCAAGACACATGGAGCCTGGGAAGTGAAAGCACAATTATGATGATTTCTCAGTTTTAGAGATGAAAGCGTTTTTCCAGCCCTCGGGCTATGCTGGGCTGGGCTGGGCCTCAGCAAGGTGACATTTCATGTCTAGAAATAGCAGCAAGTGCTCAGTTAATTGGTCAAT... | pathogenic | 154,982 |
Is the chromosome 9, position 136200566 variant in LHX3 (LIM homeobox 3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AAATGCTTTTGAAAGTAGAACTTAAGGAGTCCACTAACTCCATGGGAAATTCAGATCCGCGGGCTCCCTGGGACCCCTGCGACCCCGCCGACGCGCGCTCGTCCCCCCCCGAGCTCCGCGATCCCTCCGCCTACCGGGGAAGGAGACCTCAGCGTCGCTGTCCTGCCCCTCCTGAACGCTGTCCTTGTCCGACTTGGAGCCGCCGCGGGAGCGCTTCATGTTGCGGAAATACTGCCCCCAGCGCTGCCGGCCGGCGTCCTTCTTCAGCCTCTTCTCCTTGGCCCGGCGGTTCTGGAACCAAACCTGGGGGCGGGGCGGGG... | AAATGCTTTTGAAAGTAGAACTTAAGGAGTCCACTAACTCCATGGGAAATTCAGATCCGCGGGCTCCCTGGGACCCCTGCGACCCCGCCGACGCGCGCTCGTCCCCCCCCGAGCTCCGCGATCCCTCCGCCTACCGGGGAAGGAGACCTCAGCGTCGCTGTCCTGCCCCTCCTGAACGCTGTCCTTGTCCGACTTGGAGCCGCCGCGGGAGCGCTTCATGTTGCGGAAATACTGCCCCCAGCGCTGCCGGCCGGCGTCCTTCTTCAGCCTCTTCTCCTTGGCCCGGCGGTTCTGGAACCAAACCTGGGGGCGGGGCGGGG... | benign | 154,993 |
Evaluate this variant at chromosome 9, position 136366802, gene CARD9 (caspase recruitment domain family member 9): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Predisposition_to_invasive_fungal_disease_due_to_CARD9_deficiency'] | TTTCAGATGCCAAGACACACCCAGGAGGCCAAGCCACGGCTCCAGCCTGGGGTCCGGGCCATTGTTTCTACAACAAAGCCCGAGGTGGTGCTTGCTCTCAGGACTCCTGTGTTCACCTCCTCATCCACTGTAAAGGCCCTCGGAAAACCAGGACCAGGCACATCCACGTCCAAAAAGCCCCCCAAGCTGCTGCAGTGCCCAAGAAAGGGGGATCCACTTCGCAGCCCAGACACCGCACCCCGAGCACTGTGGGCAGAGACCTTGTGGTCACTCCTCAGCTGTCGTCGGGGCCACCGCAGGGGGTGCCCAGGGCAGGGAGC... | TTTCAGATGCCAAGACACACCCAGGAGGCCAAGCCACGGCTCCAGCCTGGGGTCCGGGCCATTGTTTCTACAACAAAGCCCGAGGTGGTGCTTGCTCTCAGGACTCCTGTGTTCACCTCCTCATCCACTGTAAAGGCCCTCGGAAAACCAGGACCAGGCACATCCACGTCCAAAAAGCCCCCCAAGCTGCTGCAGTGCCCAAGAAAGGGGGATCCACTTCGCAGCCCAGACACCGCACCCCGAGCACTGTGGGCAGAGACCTTGTGGTCACTCCTCAGCTGTCGTCGGGGCCACCGCAGGGGGTGCCCAGGGCAGGGAGC... | pathogenic | 155,012 |
The chromosome 9, position 136370424 genetic variant in gene CARD9 (caspase recruitment domain family member 9): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Predisposition_to_invasive_fungal_disease_due_to_CARD9_deficiency'] | GGGAGCCACACCAACCCCCATGGGGGCACAGCTGGATCTGCCCTTTTCCCCTGCCTTGGCGTGGGCCAGGCGCGAGTGAGGCTGAGGTGGGGCTGAGACAGGAGCTCTGAGCCTGGGCTGCTCTCATGGGGGCCGGGGCTTCCTTTGTAGCCCCAGGGGTCTCGTTTTAAGGCTCCTGATGTGGACAAAGTGCCATCCAGCATTTAGCCGAAGCAGCAATGGTGTCCATTGGAAACAACCTCCAGGATGGGACTTGGGACGGGGCATGGGAAGCAGACACAGCCCTGCCCCGCGACGCTCCATCCGGCTCACAGCACGTA... | GGGAGCCACACCAACCCCCATGGGGGCACAGCTGGATCTGCCCTTTTCCCCTGCCTTGGCGTGGGCCAGGCGCGAGTGAGGCTGAGGTGGGGCTGAGACAGGAGCTCTGAGCCTGGGCTGCTCTCATGGGGGCCGGGGCTTCCTTTGTAGCCCCAGGGGTCTCGTTTTAAGGCTCCTGATGTGGACAAAGTGCCATCCAGCATTTAGCCGAAGCAGCAATGGTGTCCATTGGAAACAACCTCCAGGATGGGACTTGGGACGGGGCATGGGAAGCAGACACAGCCCTGCCCCGCGACGCTCCATCCGGCTCACAGCACGTA... | pathogenic | 155,021 |
Does the variant on chromosome 9 at location 136430318 affecting gene INPP5E (inositol polyphosphate-5-phosphatase E) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_aplasia_of_the_vermis', 'INPP5E-related_disorder', 'Rod-cone_dystrophy'] | ACCACACCCGGCTAATTTTTGTAATTTTAGTAGAGATGCAGGGGTGGTCGCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATTTGCCCACCACTCAGATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGAGTGAGCCACCGCACCCAGCCGAATGTAGGATTTTAAAGATAGCAGAGATGAACCGGACAAGATCATAGTCAGCTGTTGAGGGTTGAGACCAAACTTTTTGCCTGTGGATTTTACAGCCTTTCAAACAAGGACATTGTGAGAACGGGATATGCATGTATATTGTTGCTT... | ACCACACCCGGCTAATTTTTGTAATTTTAGTAGAGATGCAGGGGTGGTCGCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATTTGCCCACCACTCAGATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGAGTGAGCCACCGCACCCAGCCGAATGTAGGATTTTAAAGATAGCAGAGATGAACCGGACAAGATCATAGTCAGCTGTTGAGGGTTGAGACCAAACTTTTTGCCTGTGGATTTTACAGCCTTTCAAACAAGGACATTGTGAGAACGGGATATGCATGTATATTGTTGCTT... | pathogenic | 155,080 |
A mutation at chromosome position 136431806 on chromosome 9 in gene INPP5E (inositol polyphosphate-5-phosphatase E): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCT... | TTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCT... | benign | 155,096 |
The genetic variant at chromosome 9, position 136433146, affecting gene INPP5E (inositol polyphosphate-5-phosphatase E): benign or pathogenic? Disease name(s) if pathogenic? | benign | GAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATC... | GAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATC... | benign | 155,121 |
Clinical classification of chromosome 9, position 136433147, gene INPP5E (inositol polyphosphate-5-phosphatase E): benign or pathogenic? Disease(s) if pathogenic? | benign | AAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCT... | AAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCT... | benign | 155,124 |
Determine if the mutation at chromosome 9, position 136433147 in gene INPP5E (inositol polyphosphate-5-phosphatase E) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | AAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCT... | AAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCT... | benign | 155,125 |
Gene INPP5E (inositol polyphosphate-5-phosphatase E) variant at chromosome position 136438597 on chromosome 9: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CAGCTCTCCGAGCAAAAGGAACGGGTGGGGAAAGGCCCCCTAACCCGCCCTGGCAGCCCCAAGGCACTGGCAAAAGCCAGCAGCCATTCTCAAACAGGGCGGACCCAGCCCGTGCACACGCGGCCCGCAAACTCAGAATGGGTTTTACTGTGTGGAACGGCAGAGAAAGAAAAAAGAGCGAGGTTCCAATGTATGTCCCTAATAGACTCACTGGCACACAGACGCCCTTTGGTCCCCACTGTCTGTGTCTCCCCCTTGACAGAAAGAGTGCGCCGACTCCTATTCTAGAACAGACCGGAGGTCTGGAAATGGGAAGCTGT... | CAGCTCTCCGAGCAAAAGGAACGGGTGGGGAAAGGCCCCCTAACCCGCCCTGGCAGCCCCAAGGCACTGGCAAAAGCCAGCAGCCATTCTCAAACAGGGCGGACCCAGCCCGTGCACACGCGGCCCGCAAACTCAGAATGGGTTTTACTGTGTGGAACGGCAGAGAAAGAAAAAAGAGCGAGGTTCCAATGTATGTCCCTAATAGACTCACTGGCACACAGACGCCCTTTGGTCCCCACTGTCTGTGTCTCCCCCTTGACAGAAAGAGTGCGCCGACTCCTATTCTAGAACAGACCGGAGGTCTGGAAATGGGAAGCTGT... | benign | 155,141 |
The mutation in gene INPP5E (inositol polyphosphate-5-phosphatase E) at chromosome 9, position 136438946—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_1', 'MORM_syndrome', 'Rod-cone_dystrophy'] | CGTCAACCCTCGTTTCCTGGTTGTTTGAAAACAATGACTTGAGGGTCCAAATTTGAGACACGACTGTCCTTTTCTCTAACAGGTGTATCTACGTCAACCGGATCTAATTTTAAAATGTGATGCTTTAGATGCACTAAGAAATCTCACTCTTTACGAGAAGCCCTGCAGTGAATTATTTTAACAAAAGCAGCAGTCTTGCCCTGGATGTGATCGCACCTGCTCCATCCATGACAGGAGGAGAGTATGGTGGGGGCGCCAGGCACGGGCCCTCACTCCAGGCCTGAGCCCACCTGCCTGCTGGTGCACCACAGACGCGGGGA... | CGTCAACCCTCGTTTCCTGGTTGTTTGAAAACAATGACTTGAGGGTCCAAATTTGAGACACGACTGTCCTTTTCTCTAACAGGTGTATCTACGTCAACCGGATCTAATTTTAAAATGTGATGCTTTAGATGCACTAAGAAATCTCACTCTTTACGAGAAGCCCTGCAGTGAATTATTTTAACAAAAGCAGCAGTCTTGCCCTGGATGTGATCGCACCTGCTCCATCCATGACAGGAGGAGAGTATGGTGGGGGCGCCAGGCACGGGCCCTCACTCCAGGCCTGAGCCCACCTGCCTGCTGGTGCACCACAGACGCGGGGA... | pathogenic | 155,149 |
The genetic variant at chromosome 9, position 136438946, affecting gene INPP5E (inositol polyphosphate-5-phosphatase E): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_aplasia_of_the_vermis', 'INPP5E-related_disorder', 'Joubert_syndrome_and_related_disorders', 'Retinal_dystrophy'] | CGTCAACCCTCGTTTCCTGGTTGTTTGAAAACAATGACTTGAGGGTCCAAATTTGAGACACGACTGTCCTTTTCTCTAACAGGTGTATCTACGTCAACCGGATCTAATTTTAAAATGTGATGCTTTAGATGCACTAAGAAATCTCACTCTTTACGAGAAGCCCTGCAGTGAATTATTTTAACAAAAGCAGCAGTCTTGCCCTGGATGTGATCGCACCTGCTCCATCCATGACAGGAGGAGAGTATGGTGGGGGCGCCAGGCACGGGCCCTCACTCCAGGCCTGAGCCCACCTGCCTGCTGGTGCACCACAGACGCGGGGA... | CGTCAACCCTCGTTTCCTGGTTGTTTGAAAACAATGACTTGAGGGTCCAAATTTGAGACACGACTGTCCTTTTCTCTAACAGGTGTATCTACGTCAACCGGATCTAATTTTAAAATGTGATGCTTTAGATGCACTAAGAAATCTCACTCTTTACGAGAAGCCCTGCAGTGAATTATTTTAACAAAAGCAGCAGTCTTGCCCTGGATGTGATCGCACCTGCTCCATCCATGACAGGAGGAGAGTATGGTGGGGGCGCCAGGCACGGGCCCTCACTCCAGGCCTGAGCCCACCTGCCTGCTGGTGCACCACAGACGCGGGGA... | pathogenic | 155,150 |
Is the chromosome 9, position 136439409 variant in INPP5E (inositol polyphosphate-5-phosphatase E) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_aplasia_of_the_vermis'] | AGACCACCCTGGATTTAGGGTAGGCAGTAAATTCAATGACTGGTGTCCTTATAAAAAGAGAGGGGAACACAGAGAGACAGGGAAGAGGCCACATAAAGACAGAGGCAGAGACTGGAGCATGCGGCCACAAGCCAAGGAACAAGTGGGGCCCCAGGAGCGGGAGGCAGCGGGAGGACCCTCCCCTGAGCCTCTGGAGAGAGGCTGCGTGGCCACACCTTGATTTTAGACTTCTGGCCTCTAGAACTGGGAGAGAGTCCAGCTCTGCTGTTGCAAGCCTCCCAGTCTGTGGTCATGAGTTACAACGGCCCCAGGACACCAAC... | AGACCACCCTGGATTTAGGGTAGGCAGTAAATTCAATGACTGGTGTCCTTATAAAAAGAGAGGGGAACACAGAGAGACAGGGAAGAGGCCACATAAAGACAGAGGCAGAGACTGGAGCATGCGGCCACAAGCCAAGGAACAAGTGGGGCCCCAGGAGCGGGAGGCAGCGGGAGGACCCTCCCCTGAGCCTCTGGAGAGAGGCTGCGTGGCCACACCTTGATTTTAGACTTCTGGCCTCTAGAACTGGGAGAGAGTCCAGCTCTGCTGTTGCAAGCCTCCCAGTCTGTGGTCATGAGTTACAACGGCCCCAGGACACCAAC... | pathogenic | 155,155 |
The mutation in gene NOTCH1 at chromosome 9, position 136499143—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Adams-Oliver_syndrome_5'] | GAGGCCACGTCTGACAGGTAGCCATGGGGTGACTCCAGGGAGTCCACGGGCGAGAGCATGCCGGAGCTGTCCAGCAGGCAGCCCTTGCCGTCCTGGGACTTCTTCCTCCGTGCCTTGAGGTCCTTGGCCTCCTTGCTTCCACAGGCCAGGCCTTTGCTGCTGGGCTTGCGGACCTTCTTGCCCTGCACGCCGGGCTTGAGGCTGCCCAGGTAGCCGTTGGGCGAGCAGAGCGGGGGCGACAGGGTGGGCGTGCCCCCCAGCGGGGCTCCGTGCAGCTGCGGGCTGCGCACCAGGTTGTACTCGTCCAGCAGCCTCACGAT... | GAGGCCACGTCTGACAGGTAGCCATGGGGTGACTCCAGGGAGTCCACGGGCGAGAGCATGCCGGAGCTGTCCAGCAGGCAGCCCTTGCCGTCCTGGGACTTCTTCCTCCGTGCCTTGAGGTCCTTGGCCTCCTTGCTTCCACAGGCCAGGCCTTTGCTGCTGGGCTTGCGGACCTTCTTGCCCTGCACGCCGGGCTTGAGGCTGCCCAGGTAGCCGTTGGGCGAGCAGAGCGGGGGCGACAGGGTGGGCGTGCCCCCCAGCGGGGCTCCGTGCAGCTGCGGGCTGCGCACCAGGTTGTACTCGTCCAGCAGCCTCACGAT... | pathogenic | 155,344 |
Regarding the variant at chromosome 9 and position 136503339, affecting gene NOTCH1 (notch receptor 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGTGGAGGTTGCAGGGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACGGAGCGAGACTCCATCTCAAAAACAAAAAAAAAAGAAAAAAAAAAAGAAAAAGAAAATCAACGCTTTCCATGTCTCAAGAAGGTTTCAGAAAAGAGTAATTTACAGGGACAGAGTGGCCCTGCGGTATCACCCCAGGAAGGGGTTGGTGGAAGAACAGGAGGACTCCAGGACCCCCCCACGTCTACTCTGAATGG... | AGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGTGGAGGTTGCAGGGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACGGAGCGAGACTCCATCTCAAAAACAAAAAAAAAAGAAAAAAAAAAAGAAAAAGAAAATCAACGCTTTCCATGTCTCAAGAAGGTTTCAGAAAAGAGTAATTTACAGGGACAGAGTGGCCCTGCGGTATCACCCCAGGAAGGGGTTGGTGGAAGAACAGGAGGACTCCAGGACCCCCCCACGTCTACTCTGAATGG... | benign | 155,460 |
Classify the chromosome 9 variant at position 136506932 affecting gene NOTCH1 (notch receptor 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Adams-Oliver_syndrome_5', 'NOTCH1-related_disorder'] | TGGTGTGCAGCACGCGGCTGAGCTCCCGCAGGAAGTGGAAGGAGCTGTTGCGCAGCTGCTCCGGCGGCATCAGCACCACCACCACCAGCGTGCCGGCCGCCAGCCTCTCGGGTACATGCTCCGCACAGTCCAGCCCGTCCCACTCGCACTCCGCGCTGTTGCAGCCCTGGTCGCAGTGCCCGTCGCTGAAGTGGTCCTTGCAGTACTGGTCGTACAGGGGGCTGTGGGGGGCGGGACACGCTCAGGCCGCCTTCCTCGGGGGGCCTCGCACCCGCCGTCCGGTGCCTCCAGCCCACTGGCCAGCCGCGGGGGACGTCCCT... | TGGTGTGCAGCACGCGGCTGAGCTCCCGCAGGAAGTGGAAGGAGCTGTTGCGCAGCTGCTCCGGCGGCATCAGCACCACCACCACCAGCGTGCCGGCCGCCAGCCTCTCGGGTACATGCTCCGCACAGTCCAGCCCGTCCCACTCGCACTCCGCGCTGTTGCAGCCCTGGTCGCAGTGCCCGTCGCTGAAGTGGTCCTTGCAGTACTGGTCGTACAGGGGGCTGTGGGGGGCGGGACACGCTCAGGCCGCCTTCCTCGGGGGGCCTCGCACCCGCCGTCCGGTGCCTCCAGCCCACTGGCCAGCCGCGGGGGACGTCCCT... | pathogenic | 155,601 |
Does the chromosome 9 mutation at position 136513039 within gene NOTCH1 (notch receptor 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Adams-Oliver_syndrome_5'] | TCCCAGGTCAATTCCTGATTCCAGAACTTCTCCGACCAGGGCCTCCTCAGCACCCACCAGCTCCTCTTCAAAGACTCATCTAGCCTGCCTGGGAGCTGCCTGTGTCCCGCAGACATCCTGACCTCCCATCCCAGCCCTCACCGGGCCCTGGCCAGCCTCACCTTGCCAGCCCGTGGGGCAGACACAGGAGAAGCTCTCATAGTCCTCGGATTGCCTGCACTCCCCGCCGTTTCTGCAGGGGCTGGGGGCACACGGGGCCAGCACCACCTCACACGTGGCACCTGCGGGAAGGAGACACACGTGACCCCGGGAGCCTCACC... | TCCCAGGTCAATTCCTGATTCCAGAACTTCTCCGACCAGGGCCTCCTCAGCACCCACCAGCTCCTCTTCAAAGACTCATCTAGCCTGCCTGGGAGCTGCCTGTGTCCCGCAGACATCCTGACCTCCCATCCCAGCCCTCACCGGGCCCTGGCCAGCCTCACCTTGCCAGCCCGTGGGGCAGACACAGGAGAAGCTCTCATAGTCCTCGGATTGCCTGCACTCCCCGCCGTTTCTGCAGGGGCTGGGGGCACACGGGGCCAGCACCACCTCACACGTGGCACCTGCGGGAAGGAGACACACGTGACCCCGGGAGCCTCACC... | pathogenic | 155,750 |
Determine whether the variant at chromosome 9, position 136518120, in gene NOTCH1 (notch receptor 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CTGGCACAGATGCCCAGTGAAGCCTGGGGCCGGGGAGGGGAGGGGAGGGAGTCATGTGCAACAGCACTATGGCCCTTCAGGGACCCCTGGCCAGACCCCAGCAGTGAGCGCCTGGCTGGGCTCCCCAGGGCACACTCAGCCTGAGCTCAGCCAGCTCCAGCTCTCCCTGCCTCCCGCTGCCCGCTCCCCGGATCAAAGCCCCTCCCCCAGCACCACACGCCCTCGCTCCCACAGAAGGGGCCTTTTTCCCAAACCGACTGGGTTGCTATGGCTACAGTGGAGCCGGGCTGAGAATGGGGCTCCCCTCGCTCCAGTGTCTG... | CTGGCACAGATGCCCAGTGAAGCCTGGGGCCGGGGAGGGGAGGGGAGGGAGTCATGTGCAACAGCACTATGGCCCTTCAGGGACCCCTGGCCAGACCCCAGCAGTGAGCGCCTGGCTGGGCTCCCCAGGGCACACTCAGCCTGAGCTCAGCCAGCTCCAGCTCTCCCTGCCTCCCGCTGCCCGCTCCCCGGATCAAAGCCCCTCCCCCAGCACCACACGCCCTCGCTCCCACAGAAGGGGCCTTTTTCCCAAACCGACTGGGTTGCTATGGCTACAGTGGAGCCGGGCTGAGAATGGGGCTCCCCTCGCTCCAGTGTCTG... | benign | 155,881 |
Evaluate this variant at chromosome 9, position 136523163, gene NOTCH1 (notch receptor 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Adams-Oliver_syndrome_5'] | GAGGGCCCTTCAGGGGGCCTGGGTGCAGGGGCCGCCGGGGACAGTCTGAAGCTGGGGTCTGGCAGGCCTGAGTCATTTGGGGAGGCCCCCGGATGGTCATCTCACCCTGAAACGGCCAGACTCCACAGCAGGCAGTGAGCACACCCCTCACCGGACGGGTGACCCAGCCCCCAGCACCCCAGCCTCTGAGATCTACCCACACTCAAGTGAGTGAACCCCACCAGCCCCTCCCCTTCCCTCCCTGCCCACTCCCCAGGGCCCTGAGCTGCCCCTGCACGGGCAGTGGCTCTGAGCCGGCCCAGCACCCCTGGCATCTCTGC... | GAGGGCCCTTCAGGGGGCCTGGGTGCAGGGGCCGCCGGGGACAGTCTGAAGCTGGGGTCTGGCAGGCCTGAGTCATTTGGGGAGGCCCCCGGATGGTCATCTCACCCTGAAACGGCCAGACTCCACAGCAGGCAGTGAGCACACCCCTCACCGGACGGGTGACCCAGCCCCCAGCACCCCAGCCTCTGAGATCTACCCACACTCAAGTGAGTGAACCCCACCAGCCCCTCCCCTTCCCTCCCTGCCCACTCCCCAGGGCCCTGAGCTGCCCCTGCACGGGCAGTGGCTCTGAGCCGGCCCAGCACCCCTGGCATCTCTGC... | pathogenic | 155,963 |
Evaluate if the mutation on chromosome 9 at position 136544003 in NOTCH1 (notch receptor 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CAGGCCCCAGCAAAGGGGACAAGGCCAGGCACCAAAGCCATGGTCGGCGGCCTGCCTTGGGCTGGAAACAGCTCACCGGGATCCCAGGTTTGGGGAATGGGAAAGTGGGCCCATGACACCAGTGTTTTGCGGCCCTGTGGCAGGGTTTTAACCCAGACACCAGGGAGCTGCAGCAATCTGTACCCCAAAGCACAGCGCTCTGGCCCAGGGAGACCTCAGTCCCAGACCCCTGTGGGCCAGGCTGTGCCTACTCCCTGGTGCCACTGAGAAGAAGCAACAGGCCCCCAATTTTCCCAGCACGGTGTTCCTCCCACCCTCCC... | CAGGCCCCAGCAAAGGGGACAAGGCCAGGCACCAAAGCCATGGTCGGCGGCCTGCCTTGGGCTGGAAACAGCTCACCGGGATCCCAGGTTTGGGGAATGGGAAAGTGGGCCCATGACACCAGTGTTTTGCGGCCCTGTGGCAGGGTTTTAACCCAGACACCAGGGAGCTGCAGCAATCTGTACCCCAAAGCACAGCGCTCTGGCCCAGGGAGACCTCAGTCCCAGACCCCTGTGGGCCAGGCTGTGCCTACTCCCTGGTGCCACTGAGAAGAAGCAACAGGCCCCCAATTTTCCCAGCACGGTGTTCCTCCCACCCTCCC... | benign | 155,996 |
Clinical impact (benign or pathogenic) of the variant at chromosome 9, location 137087116, gene MAN1B1: what disease(s) if pathogenic? | benign | TTTTTTGAGACTGGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCTCGACCTCCTGGGGCTTAGGTGGTCTTCCCACCTCAGCCTCCAGAGTAGCTGGGACCACAGGTGCACACCACCACACTGGACTCATTTTTTTATTTTTTGTAGAGACAGGGGTTTCACCATGTTGCCCAGGTTGGACTCCTGAGCTCAGGGGATCTGCCCACCTTGGCCTCCAAAAGTGCTGGGATTACTACAGGCATGAGTCACTGTGCCCCGCCCACGGGAAATTTCTTTTTTTTTTTTTTTTTTTT... | TTTTTTGAGACTGGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCTCGACCTCCTGGGGCTTAGGTGGTCTTCCCACCTCAGCCTCCAGAGTAGCTGGGACCACAGGTGCACACCACCACACTGGACTCATTTTTTTATTTTTTGTAGAGACAGGGGTTTCACCATGTTGCCCAGGTTGGACTCCTGAGCTCAGGGGATCTGCCCACCTTGGCCTCCAAAAGTGCTGGGATTACTACAGGCATGAGTCACTGTGCCCCGCCCACGGGAAATTTCTTTTTTTTTTTTTTTTTTTT... | benign | 156,118 |
A mutation at chromosome position 137099689 on chromosome 9 in gene MAN1B1 (mannosidase alpha class 1B member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GGCTCTCAGGCACGGGAGCTCAGGACTGAACTGTGTGTTTCCTGCCACTCAGCAGCCTGCACCTCAGGATGATGGGGCCGCTTTGGGTGCAGGGCTGTGCCTTGGCCGTGGGTATGGAGCGTGGGGGTGGGAAACATGGAGCCACAAATGTTTGACGGCAGCTGACACCCTTCCTTCTCCCCCGAAGCTGGAGGGGAGCGGTGATCGAGCCTGAGCAGGGCACCGAGCTCCCTTCAAGAAGAGCAGAAGTGCCCACCAAGCCTCCCCTGCCACCGGCCAGGACACAGGGCACACCAGGTGAGGCCACACCTGCACCCCTT... | GGCTCTCAGGCACGGGAGCTCAGGACTGAACTGTGTGTTTCCTGCCACTCAGCAGCCTGCACCTCAGGATGATGGGGCCGCTTTGGGTGCAGGGCTGTGCCTTGGCCGTGGGTATGGAGCGTGGGGGTGGGAAACATGGAGCCACAAATGTTTGACGGCAGCTGACACCCTTCCTTCTCCCCCGAAGCTGGAGGGGAGCGGTGATCGAGCCTGAGCAGGGCACCGAGCTCCCTTCAAGAAGAGCAGAAGTGCCCACCAAGCCTCCCCTGCCACCGGCCAGGACACAGGGCACACCAGGTGAGGCCACACCTGCACCCCTT... | benign | 156,140 |
A genetic alteration at chromosome 9, position 137106248, in gene MAN1B1 (mannosidase alpha class 1B member 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Rafiq_syndrome'] | TCCTCGTGTGAGTGCAGTCACACACGATTTGTCCTTTTTTTGTTTTCGTTTGTTGAGACAGAGTCTCATTCTGTCACTCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTGTTTTTATTAGAGACAGGGTTTCACCAAGTTGGCCAGACTGGTCTCAAACTCCTGACCTCGTGATCCACCCGCCTGGGCCTCCCACAGTGCTGGGATGACAGGCGTGAGCT... | TCCTCGTGTGAGTGCAGTCACACACGATTTGTCCTTTTTTTGTTTTCGTTTGTTGAGACAGAGTCTCATTCTGTCACTCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTGTTTTTATTAGAGACAGGGTTTCACCAAGTTGGCCAGACTGGTCTCAAACTCCTGACCTCGTGATCCACCCGCCTGGGCCTCCCACAGTGCTGGGATGACAGGCGTGAGCT... | pathogenic | 156,158 |
Considering the variant on chromosome 9, location 137107419, involving gene MAN1B1 (mannosidase alpha class 1B member 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; [] | AGGCTCCCATGCAGACATTTAGAAGGCGTTTTCACTGCAGCTCAGAAAATGGCCCCAGGCCCCCATGGGCACCCCCATGTCACCAGGGCCTCTGGTTGCTGCCGGTACACAGGGATAGGCAGCCAGGCCTCGAAGGTGCTGGGCATGGGTTTGGGTGTCTGCGTTGGGTAGAGACCCGGAGCGCCCTTGCTGGGCGTGCCCTAACATCCCGGTACCCTGTGCCCCTCTGTGGGCCAGGACGCCTGGTGCTGCCAGCTGGGCGTAAGCCCTGAGGAGCTGAGGGTGGCTGTGACTTGGAGGATGAGTAGGAGCTCACCAGG... | AGGCTCCCATGCAGACATTTAGAAGGCGTTTTCACTGCAGCTCAGAAAATGGCCCCAGGCCCCCATGGGCACCCCCATGTCACCAGGGCCTCTGGTTGCTGCCGGTACACAGGGATAGGCAGCCAGGCCTCGAAGGTGCTGGGCATGGGTTTGGGTGTCTGCGTTGGGTAGAGACCCGGAGCGCCCTTGCTGGGCGTGCCCTAACATCCCGGTACCCTGTGCCCCTCTGTGGGCCAGGACGCCTGGTGCTGCCAGCTGGGCGTAAGCCCTGAGGAGCTGAGGGTGGCTGTGACTTGGAGGATGAGTAGGAGCTCACCAGG... | pathogenic | 156,173 |
A genetic variant at chromosome 9, position 137107598, affecting gene MAN1B1 (mannosidase alpha class 1B member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Inborn_genetic_diseases', 'Rafiq_syndrome'] | AGCGCCCTTGCTGGGCGTGCCCTAACATCCCGGTACCCTGTGCCCCTCTGTGGGCCAGGACGCCTGGTGCTGCCAGCTGGGCGTAAGCCCTGAGGAGCTGAGGGTGGCTGTGACTTGGAGGATGAGTAGGAGCTCACCAGGAGGGCGTGGAGCCGAGGCGTTTAATATCATCAGGAGCAACACTGGGCTCAGAAGGCAGGCACACTTGCCGTCCCTCCAGAGCCATGGCTGACGGCCAGGCCTGGTGGGCTCTCGTGAGGACAGTGCCTGTGGTTGTCAGATGCTGTCCCTTCGAGTAAGGGATGAGAGCCATCCTGAAG... | AGCGCCCTTGCTGGGCGTGCCCTAACATCCCGGTACCCTGTGCCCCTCTGTGGGCCAGGACGCCTGGTGCTGCCAGCTGGGCGTAAGCCCTGAGGAGCTGAGGGTGGCTGTGACTTGGAGGATGAGTAGGAGCTCACCAGGAGGGCGTGGAGCCGAGGCGTTTAATATCATCAGGAGCAACACTGGGCTCAGAAGGCAGGCACACTTGCCGTCCCTCCAGAGCCATGGCTGACGGCCAGGCCTGGTGGGCTCTCGTGAGGACAGTGCCTGTGGTTGTCAGATGCTGTCCCTTCGAGTAAGGGATGAGAGCCATCCTGAAG... | pathogenic | 156,176 |
Mutation found at chromosome 9 position 137142021, gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Intellectual_disability,_autosomal_dominant_8'] | AGAGGGCCCCTGGGGCTCCAGGCCCTGACTGGTGTGTGTAGACGTGGGGCTGGAGTGTGTCAGTGTGGGGGTGGGCATTCCGGGTAAGAGAGTAGAAGCGCCTGTCCAGCTACATGCCCGCCCTGCAGAGCTTTAAACAGGACGGGGCCTGGGGCCATCTTTGTTTCTGCTTCCAGGTTCTCCTGCCCTTTCTTTCGTCCCTTCCCCCTACCGATGGGTCCGCCTGGGAAGAGAAATGGCTCAGGTGCCACGGCAGGACGCTTTGTGGGGGTGGGAGTGGGGGTGCACACGCGAGAGGCATCAGGGCATGGGAGCTGTCG... | AGAGGGCCCCTGGGGCTCCAGGCCCTGACTGGTGTGTGTAGACGTGGGGCTGGAGTGTGTCAGTGTGGGGGTGGGCATTCCGGGTAAGAGAGTAGAAGCGCCTGTCCAGCTACATGCCCGCCCTGCAGAGCTTTAAACAGGACGGGGCCTGGGGCCATCTTTGTTTCTGCTTCCAGGTTCTCCTGCCCTTTCTTTCGTCCCTTCCCCCTACCGATGGGTCCGCCTGGGAAGAGAAATGGCTCAGGTGCCACGGCAGGACGCTTTGTGGGGGTGGGAGTGGGGGTGCACACGCGAGAGGCATCAGGGCATGGGAGCTGTCG... | pathogenic | 156,213 |
Variant chromosome 9, position 137157043, gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1): benign or pathogenic? Disease(s)? | benign | GTTTTGCAGAGAGACATGACGCCAATCTTAATTTTTGACAATTTTCCATAGCATGCAGATAATTTGTTTCCAAAACTTTTCATTTTCCTGAAGTCATCTTGATTGGTATCAGCTATTTCCATAAAACGATCGGATGAGTTTTGATGGACAGATCAGGCTTTTGTTTACAACTGTTTTGCTCCTAATCATTCCACCACATCACATGTCATGGACCTGAATTGCGTCAAGAAGACGGGCTTGTCTGTCAGGCCCTGGTGGGCACTTTGATAGCGGGCATGCTGTGCCATGACACGTGTGGTGTTGGGTCTTGCTGGACAAGC... | GTTTTGCAGAGAGACATGACGCCAATCTTAATTTTTGACAATTTTCCATAGCATGCAGATAATTTGTTTCCAAAACTTTTCATTTTCCTGAAGTCATCTTGATTGGTATCAGCTATTTCCATAAAACGATCGGATGAGTTTTGATGGACAGATCAGGCTTTTGTTTACAACTGTTTTGCTCCTAATCATTCCACCACATCACATGTCATGGACCTGAATTGCGTCAAGAAGACGGGCTTGTCTGTCAGGCCCTGGTGGGCACTTTGATAGCGGGCATGCTGTGCCATGACACGTGTGGTGTTGGGTCTTGCTGGACAAGC... | benign | 156,261 |
Evaluate this variant at chromosome 9, position 137161046, gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GAGCAGATGGGGGACAGCAGGCAGACCTCAGCTTCAGCACTCGCTGTCCCCAGTCCTGGTCCTCCACACCCCTCATCCCTCCTCCAGCCTGCATTGCTCTTGATGGGACCGGGTCAAACTGTCCTCTTCCACCGTGTGGGACAGCCCTTCCTGACTCCCCTGGGCCTCTGAGAGCCTCTGCCCTCGCCGGCTTCCTCCTCCAGAACATCTTTCCCTTGGCTCCCTACTCCAGGGTGCTCTCCTGGCCATTCCTCCCCGGGCAGAGCCACACTACCCCCACTCCACACACACTCCAGTCCTGGTAGCATCACAGACCACCA... | GAGCAGATGGGGGACAGCAGGCAGACCTCAGCTTCAGCACTCGCTGTCCCCAGTCCTGGTCCTCCACACCCCTCATCCCTCCTCCAGCCTGCATTGCTCTTGATGGGACCGGGTCAAACTGTCCTCTTCCACCGTGTGGGACAGCCCTTCCTGACTCCCCTGGGCCTCTGAGAGCCTCTGCCCTCGCCGGCTTCCTCCTCCAGAACATCTTTCCCTTGGCTCCCTACTCCAGGGTGCTCTCCTGGCCATTCCTCCCCGGGCAGAGCCACACTACCCCCACTCCACACACACTCCAGTCCTGGTAGCATCACAGACCACCA... | benign | 156,267 |
Considering the variant on chromosome 9, location 137161271, involving gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | ACTCCAGGGTGCTCTCCTGGCCATTCCTCCCCGGGCAGAGCCACACTACCCCCACTCCACACACACTCCAGTCCTGGTAGCATCACAGACCACCAAAGGCAAGGACCTCACAGGCGACACGCCCACCAACCTTCTCTCGGTCATTCCAAGCCCTCAAATGTCTCTTGACCCTGTCTGTTTTCTGAGCCCACCCCTGAAGCTTGGTGTCAGCCCCTGTGACCTCTCACCCAGGCTCCCTCCCCTGCTCTGCACCGGCCCCTGTGGCCTCTCACCCAAGCTCCCTTCCCTGCTCTGCAGACAGGGTGGGGTTTTCCAGTGCC... | ACTCCAGGGTGCTCTCCTGGCCATTCCTCCCCGGGCAGAGCCACACTACCCCCACTCCACACACACTCCAGTCCTGGTAGCATCACAGACCACCAAAGGCAAGGACCTCACAGGCGACACGCCCACCAACCTTCTCTCGGTCATTCCAAGCCCTCAAATGTCTCTTGACCCTGTCTGTTTTCTGAGCCCACCCCTGAAGCTTGGTGTCAGCCCCTGTGACCTCTCACCCAGGCTCCCTCCCCTGCTCTGCACCGGCCCCTGTGGCCTCTCACCCAAGCTCCCTTCCCTGCTCTGCAGACAGGGTGGGGTTTTCCAGTGCC... | benign | 156,272 |
Regarding the variant found on chromosome 9 at position 137162100 in gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ATCCCTTCCCCACCCCCATGCCATGGTCCCTTGAAGGACAGACAGGAGGGCGAGCCCAAGCAGGAGTGTGGGTCGAAGAGGCCACGGCGCGGTGGAGCACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCT... | ATCCCTTCCCCACCCCCATGCCATGGTCCCTTGAAGGACAGACAGGAGGGCGAGCCCAAGCAGGAGTGTGGGTCGAAGAGGCCACGGCGCGGTGGAGCACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCT... | benign | 156,287 |
Regarding the variant found on chromosome 9 at position 137192572 in gene TPRN (taperin): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TGCCCACCCTCCCCAGGCCAGCCCCACCCTGAGCCCTCCCCAGCAGGGCCGCCGGTCCTCTTCCCCTGACTGGCCCACGGCTCACCCTCCTCTCAGGAGCTCTGCTTGCTCGTCCTGTTCTCTGCCACACCCTGGTGGCCAGCATAGGACCCAGCCCAGAGAGACAGCTGGGGATGCCAAGCATATCCAGCAGCTGCCTCAGATTCAGGTCCCTCTCAGCAAGGACTGGGGGGAGTTCACACCCCCCACCCCCGTCGGTTCCTCAGTTGCAAGTTTTGCTTGGCCTGATGACACCACTGCTGCCACCAGGCCCTGCTGCC... | TGCCCACCCTCCCCAGGCCAGCCCCACCCTGAGCCCTCCCCAGCAGGGCCGCCGGTCCTCTTCCCCTGACTGGCCCACGGCTCACCCTCCTCTCAGGAGCTCTGCTTGCTCGTCCTGTTCTCTGCCACACCCTGGTGGCCAGCATAGGACCCAGCCCAGAGAGACAGCTGGGGATGCCAAGCATATCCAGCAGCTGCCTCAGATTCAGGTCCCTCTCAGCAAGGACTGGGGGGAGTTCACACCCCCCACCCCCGTCGGTTCCTCAGTTGCAAGTTTTGCTTGGCCTGATGACACCACTGCTGCCACCAGGCCCTGCTGCC... | benign | 156,350 |
Determine whether the variant at chromosome 9, position 137192572, in gene TPRN (taperin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TGCCCACCCTCCCCAGGCCAGCCCCACCCTGAGCCCTCCCCAGCAGGGCCGCCGGTCCTCTTCCCCTGACTGGCCCACGGCTCACCCTCCTCTCAGGAGCTCTGCTTGCTCGTCCTGTTCTCTGCCACACCCTGGTGGCCAGCATAGGACCCAGCCCAGAGAGACAGCTGGGGATGCCAAGCATATCCAGCAGCTGCCTCAGATTCAGGTCCCTCTCAGCAAGGACTGGGGGGAGTTCACACCCCCCACCCCCGTCGGTTCCTCAGTTGCAAGTTTTGCTTGGCCTGATGACACCACTGCTGCCACCAGGCCCTGCTGCC... | TGCCCACCCTCCCCAGGCCAGCCCCACCCTGAGCCCTCCCCAGCAGGGCCGCCGGTCCTCTTCCCCTGACTGGCCCACGGCTCACCCTCCTCTCAGGAGCTCTGCTTGCTCGTCCTGTTCTCTGCCACACCCTGGTGGCCAGCATAGGACCCAGCCCAGAGAGACAGCTGGGGATGCCAAGCATATCCAGCAGCTGCCTCAGATTCAGGTCCCTCTCAGCAAGGACTGGGGGGAGTTCACACCCCCCACCCCCGTCGGTTCCTCAGTTGCAAGTTTTGCTTGGCCTGATGACACCACTGCTGCCACCAGGCCCTGCTGCC... | benign | 156,351 |
The genetic variant at chromosome 9, position 137192572, affecting gene TPRN (taperin): benign or pathogenic? Disease name(s) if pathogenic? | benign | TGCCCACCCTCCCCAGGCCAGCCCCACCCTGAGCCCTCCCCAGCAGGGCCGCCGGTCCTCTTCCCCTGACTGGCCCACGGCTCACCCTCCTCTCAGGAGCTCTGCTTGCTCGTCCTGTTCTCTGCCACACCCTGGTGGCCAGCATAGGACCCAGCCCAGAGAGACAGCTGGGGATGCCAAGCATATCCAGCAGCTGCCTCAGATTCAGGTCCCTCTCAGCAAGGACTGGGGGGAGTTCACACCCCCCACCCCCGTCGGTTCCTCAGTTGCAAGTTTTGCTTGGCCTGATGACACCACTGCTGCCACCAGGCCCTGCTGCC... | TGCCCACCCTCCCCAGGCCAGCCCCACCCTGAGCCCTCCCCAGCAGGGCCGCCGGTCCTCTTCCCCTGACTGGCCCACGGCTCACCCTCCTCTCAGGAGCTCTGCTTGCTCGTCCTGTTCTCTGCCACACCCTGGTGGCCAGCATAGGACCCAGCCCAGAGAGACAGCTGGGGATGCCAAGCATATCCAGCAGCTGCCTCAGATTCAGGTCCCTCTCAGCAAGGACTGGGGGGAGTTCACACCCCCCACCCCCGTCGGTTCCTCAGTTGCAAGTTTTGCTTGGCCTGATGACACCACTGCTGCCACCAGGCCCTGCTGCC... | benign | 156,352 |
Variant on chromosome 9, at position 137199768, affecting TPRN (taperin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_79'] | GAGGCTGTGGCTATCAGACTGACCCCACCTTGATGGGCTGGGGTGATGCTCGGGCGAGGGTCGGGGAGATAGACCCACGTGGCTCCAGGAGTGGGAGGGGCCCTGGACCCAGCCCCAAGCCCCCACTGGAAGCACCTCAGGAGGGTTAGCACGGATGCCTGGGCCGGCAGATAGAGCCGGCAGGGGCACCAACGCCCTGGTTCCAGGAGGGGAGTATGGCACAGGGAGAGGCGCAATGCCAAGGCCAATCCCGGGCAGGAAGCAAACAGAGGGAGGCAGCAGCCTATCTGCTGAGGGAGCCTGCAAGGTCCCATCCCCAG... | GAGGCTGTGGCTATCAGACTGACCCCACCTTGATGGGCTGGGGTGATGCTCGGGCGAGGGTCGGGGAGATAGACCCACGTGGCTCCAGGAGTGGGAGGGGCCCTGGACCCAGCCCCAAGCCCCCACTGGAAGCACCTCAGGAGGGTTAGCACGGATGCCTGGGCCGGCAGATAGAGCCGGCAGGGGCACCAACGCCCTGGTTCCAGGAGGGGAGTATGGCACAGGGAGAGGCGCAATGCCAAGGCCAATCCCGGGCAGGAAGCAAACAGAGGGAGGCAGCAGCCTATCTGCTGAGGGAGCCTGCAAGGTCCCATCCCCAG... | pathogenic | 156,365 |
Evaluate the clinical significance of the mutation at chromosome 9, position 137200476 in gene TPRN (taperin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Ear_malformation'] | CTCCCAACCAGTGTGCCTTCTGGGGAGCTGATGGCCCTCTCCCAACTGGCTGGTGGGCTGCACCCCAAGGCTGACTGTGATGCGAGGATCCAGCCAACCCCGATCATCTGGCCCTTCCCATTCATAGCGTGGCGCCTGGCGCCCATGCAGCGGGCCTCCAGGAGACCATGTGAGGCCACCCCTCAAAGCCAAGCCCAGGGAGGAACCCACAAGCCCAGGTCTGCTTCTTTCAGCTGGACTCACAAAGGGACAGACCCGCCCAGCTAATTCCAGATGAGCCACAACAACTGGCAAGGGACATAGCACTGTCTGCCCTGTCG... | CTCCCAACCAGTGTGCCTTCTGGGGAGCTGATGGCCCTCTCCCAACTGGCTGGTGGGCTGCACCCCAAGGCTGACTGTGATGCGAGGATCCAGCCAACCCCGATCATCTGGCCCTTCCCATTCATAGCGTGGCGCCTGGCGCCCATGCAGCGGGCCTCCAGGAGACCATGTGAGGCCACCCCTCAAAGCCAAGCCCAGGGAGGAACCCACAAGCCCAGGTCTGCTTCTTTCAGCTGGACTCACAAAGGGACAGACCCGCCCAGCTAATTCCAGATGAGCCACAACAACTGGCAAGGGACATAGCACTGTCTGCCCTGTCG... | pathogenic | 156,373 |
Determine if the mutation at chromosome 9, position 137200476 in gene TPRN (taperin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_79', 'Rare_genetic_deafness', 'TPRN-related_disorder'] | CTCCCAACCAGTGTGCCTTCTGGGGAGCTGATGGCCCTCTCCCAACTGGCTGGTGGGCTGCACCCCAAGGCTGACTGTGATGCGAGGATCCAGCCAACCCCGATCATCTGGCCCTTCCCATTCATAGCGTGGCGCCTGGCGCCCATGCAGCGGGCCTCCAGGAGACCATGTGAGGCCACCCCTCAAAGCCAAGCCCAGGGAGGAACCCACAAGCCCAGGTCTGCTTCTTTCAGCTGGACTCACAAAGGGACAGACCCGCCCAGCTAATTCCAGATGAGCCACAACAACTGGCAAGGGACATAGCACTGTCTGCCCTGTCG... | CTCCCAACCAGTGTGCCTTCTGGGGAGCTGATGGCCCTCTCCCAACTGGCTGGTGGGCTGCACCCCAAGGCTGACTGTGATGCGAGGATCCAGCCAACCCCGATCATCTGGCCCTTCCCATTCATAGCGTGGCGCCTGGCGCCCATGCAGCGGGCCTCCAGGAGACCATGTGAGGCCACCCCTCAAAGCCAAGCCCAGGGAGGAACCCACAAGCCCAGGTCTGCTTCTTTCAGCTGGACTCACAAAGGGACAGACCCGCCCAGCTAATTCCAGATGAGCCACAACAACTGGCAAGGGACATAGCACTGTCTGCCCTGTCG... | pathogenic | 156,374 |
Variant chromosome 9, position 137200604, gene TPRN: benign or pathogenic? Disease(s)? | pathogenic; ['Rare_genetic_deafness'] | GTGGCGCCTGGCGCCCATGCAGCGGGCCTCCAGGAGACCATGTGAGGCCACCCCTCAAAGCCAAGCCCAGGGAGGAACCCACAAGCCCAGGTCTGCTTCTTTCAGCTGGACTCACAAAGGGACAGACCCGCCCAGCTAATTCCAGATGAGCCACAACAACTGGCAAGGGACATAGCACTGTCTGCCCTGTCGCTCTCCAGCAGCCTGGCAAGGCACACAGCAGGCCAGCTGTCCCCACGGCCCAAGTCAGGGGGCTCCACTGGGGCCCTGGACCCAGCACGGCCCACCCAGCCCCAGCTCGCCTCAAGTCCATGTAGAAA... | GTGGCGCCTGGCGCCCATGCAGCGGGCCTCCAGGAGACCATGTGAGGCCACCCCTCAAAGCCAAGCCCAGGGAGGAACCCACAAGCCCAGGTCTGCTTCTTTCAGCTGGACTCACAAAGGGACAGACCCGCCCAGCTAATTCCAGATGAGCCACAACAACTGGCAAGGGACATAGCACTGTCTGCCCTGTCGCTCTCCAGCAGCCTGGCAAGGCACACAGCAGGCCAGCTGTCCCCACGGCCCAAGTCAGGGGGCTCCACTGGGGCCCTGGACCCAGCACGGCCCACCCAGCCCCAGCTCGCCTCAAGTCCATGTAGAAA... | pathogenic | 156,377 |
Chromosome 9, position 137233318, gene SLC34A3 (solute carrier family 34 member 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_hypophosphatemic_bone_disease'] | TCACTGTTTAGTATCAAATGCCAAAGTCTAAGTCGGGACCATCCACAGTGTCCCCGATGACACCAGATAGGGGAGGTCCCCAGGTTCCCCAGCTCATGGCCTGCACCCTCGGCACTAGCCTTCCAGTCAGGACCAGCAAGGGAGCCGGGGAGCTGGAGCCCCTTCGAGTCTACCCCTGAAACTGGACTGGGCTCGCCTGACAACTGCCTGAGGTCATTGTAGCCATCCCCCTGTGGATGGAGAAAGGGGGATGGTCACTGAGGCCTGCAGGGCGTAGAGAGGGAGGGTGGCGGCCAAGGGCTCAATTCAGGGGACCCAGG... | TCACTGTTTAGTATCAAATGCCAAAGTCTAAGTCGGGACCATCCACAGTGTCCCCGATGACACCAGATAGGGGAGGTCCCCAGGTTCCCCAGCTCATGGCCTGCACCCTCGGCACTAGCCTTCCAGTCAGGACCAGCAAGGGAGCCGGGGAGCTGGAGCCCCTTCGAGTCTACCCCTGAAACTGGACTGGGCTCGCCTGACAACTGCCTGAGGTCATTGTAGCCATCCCCCTGTGGATGGAGAAAGGGGGATGGTCACTGAGGCCTGCAGGGCGTAGAGAGGGAGGGTGGCGGCCAAGGGCTCAATTCAGGGGACCCAGG... | pathogenic | 156,406 |
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