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 |
|---|---|---|---|---|---|
Gene mutation in CHD7 (chromodomain helicase DNA binding protein 7) at chromosome 8, position 60822092—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['CHARGE_syndrome'] | TTGACCGGATAATGGACTTTGCACGTAGCACAGATGACCGGGGAGAGGTAACAGGAGATCATTTGTATTACAAAGTGGTGATTCAGGCAACCCATACATGTTTATAGAGAAGATGGTAGAATCCTAGACCTGGTCTTGGTCAGAGCCTTGGACTGTGACACACTTGGTCTAAATTTAACTGAAACTTAATGATTTATTATTAGTTTTATGACTTAATAATAGTGCTAAATATGTTTTATGTTTAGTCTGAGAACTTTTTTAAAAAATTGATTTTCAATATGAAAGAAATACATTGACATTTTGCACAATTCCACAATATG... | TTGACCGGATAATGGACTTTGCACGTAGCACAGATGACCGGGGAGAGGTAACAGGAGATCATTTGTATTACAAAGTGGTGATTCAGGCAACCCATACATGTTTATAGAGAAGATGGTAGAATCCTAGACCTGGTCTTGGTCAGAGCCTTGGACTGTGACACACTTGGTCTAAATTTAACTGAAACTTAATGATTTATTATTAGTTTTATGACTTAATAATAGTGCTAAATATGTTTTATGTTTAGTCTGAGAACTTTTTTAAAAAATTGATTTTCAATATGAAAGAAATACATTGACATTTTGCACAATTCCACAATATG... | pathogenic | 135,533 |
Gene CHD7 (chromodomain helicase DNA binding protein 7) variant at chromosome position 60822106 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['CHARGE_syndrome'] | GACTTTGCACGTAGCACAGATGACCGGGGAGAGGTAACAGGAGATCATTTGTATTACAAAGTGGTGATTCAGGCAACCCATACATGTTTATAGAGAAGATGGTAGAATCCTAGACCTGGTCTTGGTCAGAGCCTTGGACTGTGACACACTTGGTCTAAATTTAACTGAAACTTAATGATTTATTATTAGTTTTATGACTTAATAATAGTGCTAAATATGTTTTATGTTTAGTCTGAGAACTTTTTTAAAAAATTGATTTTCAATATGAAAGAAATACATTGACATTTTGCACAATTCCACAATATGATAAAGAATTCAGT... | GACTTTGCACGTAGCACAGATGACCGGGGAGAGGTAACAGGAGATCATTTGTATTACAAAGTGGTGATTCAGGCAACCCATACATGTTTATAGAGAAGATGGTAGAATCCTAGACCTGGTCTTGGTCAGAGCCTTGGACTGTGACACACTTGGTCTAAATTTAACTGAAACTTAATGATTTATTATTAGTTTTATGACTTAATAATAGTGCTAAATATGTTTTATGTTTAGTCTGAGAACTTTTTTAAAAAATTGATTTTCAATATGAAAGAAATACATTGACATTTTGCACAATTCCACAATATGATAAAGAATTCAGT... | pathogenic | 135,534 |
Chromosome 8, position 60828703, gene CHD7 (chromodomain helicase DNA binding protein 7): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['CHARGE_syndrome', 'CHD7-related_disorder'] | ACCAAGGAAATGTTTGTGAAGATGATACATTGAGGGGCAGTCACCATCTTCACAGTCCTCCACAGGAGCTCTGGGAAAGCAACCATCTCGTTGTCCCCCATCCACGAGGAGGGGATGCTGTGGAGATCATGGTAGTTCTTCATTGATTCTAGTATCTCTTTCATTGTCAGGAAACCTAACACAAAAGAGTCTGCTTAAAATGAAATTAAATGGACATCACTTCATCAGAGCTAAAAAGAATGGTAACGTTGTCAAGGCAAAAGCACATCTGCTAGCATAGGTGGAGGTGATAAGCTCCATCGCCTGAGTTTCTTACCTGA... | ACCAAGGAAATGTTTGTGAAGATGATACATTGAGGGGCAGTCACCATCTTCACAGTCCTCCACAGGAGCTCTGGGAAAGCAACCATCTCGTTGTCCCCCATCCACGAGGAGGGGATGCTGTGGAGATCATGGTAGTTCTTCATTGATTCTAGTATCTCTTTCATTGTCAGGAAACCTAACACAAAAGAGTCTGCTTAAAATGAAATTAAATGGACATCACTTCATCAGAGCTAAAAAGAATGGTAACGTTGTCAAGGCAAAAGCACATCTGCTAGCATAGGTGGAGGTGATAAGCTCCATCGCCTGAGTTTCTTACCTGA... | pathogenic | 135,557 |
A mutation at chromosome position 60830369 on chromosome 8 in gene CHD7 (chromodomain helicase DNA binding protein 7): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['CHARGE_syndrome'] | CTAGGGATTCTAGGAAAAAAACTTAACTGGTGGGGATAAAAGCATTGAGACTTGGGGGACTTAAAAAGCCGTGATACTAAAATACTGACCTATAACCCCAGGAAGAAACAAAATGGCAAGACACATTTAAGGACCCTGTAGAGTTCTGGAGAGGACTGTCCATGGATCTGTCTACCTGACACAGAAATCGTGTTCTAATACCTCTGTTTTCATGCCTGATTCCTATACTTTGCATAGGGTAGATGAGTAGGAGTAGAACAATGGGTGTCTAGTGAGAGGCTCTGGTTTTAAGAAAGTGTTTTTGTTACAATTTGGTTAGT... | CTAGGGATTCTAGGAAAAAAACTTAACTGGTGGGGATAAAAGCATTGAGACTTGGGGGACTTAAAAAGCCGTGATACTAAAATACTGACCTATAACCCCAGGAAGAAACAAAATGGCAAGACACATTTAAGGACCCTGTAGAGTTCTGGAGAGGACTGTCCATGGATCTGTCTACCTGACACAGAAATCGTGTTCTAATACCTCTGTTTTCATGCCTGATTCCTATACTTTGCATAGGGTAGATGAGTAGGAGTAGAACAATGGGTGTCTAGTGAGAGGCTCTGGTTTTAAGAAAGTGTTTTTGTTACAATTTGGTTAGT... | pathogenic | 135,564 |
A genetic variant on chromosome 8, position 60838099, affects the gene CHD7 (chromodomain helicase DNA binding protein 7). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['CHARGE_syndrome'] | TTATGCTGTCCAATCTCTGCAGGTGCTGAAGAGAAAATTTTGGAAGAGTTTAAAGAAACACACAATGCAGAGTCTCCAGATTTTCAGCTCCAGGCAATGATCCAGGCTGCTGGCAAGCTAGTGCTGATTGACAAGCTGCTGCCAAAACTGAAGGCTGGTGGCCACAGGGTGCTTATCTTTTCCCAGATGGTGCGCTGCTTGGACATACTGGAAGACTACCTCATTCAAAGACGGTGAGGACCACCATATCAGAATAATAAAAAGGAAATCTAAAATTACCTTCCCAGGGGTCCAAGCAGTCCACCTAAAAGTGGAATCTA... | TTATGCTGTCCAATCTCTGCAGGTGCTGAAGAGAAAATTTTGGAAGAGTTTAAAGAAACACACAATGCAGAGTCTCCAGATTTTCAGCTCCAGGCAATGATCCAGGCTGCTGGCAAGCTAGTGCTGATTGACAAGCTGCTGCCAAAACTGAAGGCTGGTGGCCACAGGGTGCTTATCTTTTCCCAGATGGTGCGCTGCTTGGACATACTGGAAGACTACCTCATTCAAAGACGGTGAGGACCACCATATCAGAATAATAAAAAGGAAATCTAAAATTACCTTCCCAGGGGTCCAAGCAGTCCACCTAAAAGTGGAATCTA... | pathogenic | 135,596 |
Gene CHD7 (chromodomain helicase DNA binding protein 7) variant at chromosome position 60849093 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['CHARGE_syndrome'] | GTCAGTATGGTACAGTCAATGTTTAATCTCATGAGTTAACAAGAGAAAAAAATCTAAAGAAATAGAAATGAGTTATCCAAAGTGAGTCTCTTCAGGGATTTATAAGCTCACACTTGGCCTATCCAGAACCCATGCTGGCCGTGAGTAGGCTCGTGGTTGGGGGAGGGCCTGTTGAGGAGCATCTGTTGATGTGTGATTGGGAGTTGTCTGTTCTGGTGAATCCTAGTTGTTATTTTGAAGTTTTAGGGACAGTTTCCATACCCTGAGAACAGCATGGTGTAGTAGAGCCTGAAGACCTAGTTCCAGTTGTGCCATGTGCA... | GTCAGTATGGTACAGTCAATGTTTAATCTCATGAGTTAACAAGAGAAAAAAATCTAAAGAAATAGAAATGAGTTATCCAAAGTGAGTCTCTTCAGGGATTTATAAGCTCACACTTGGCCTATCCAGAACCCATGCTGGCCGTGAGTAGGCTCGTGGTTGGGGGAGGGCCTGTTGAGGAGCATCTGTTGATGTGTGATTGGGAGTTGTCTGTTCTGGTGAATCCTAGTTGTTATTTTGAAGTTTTAGGGACAGTTTCCATACCCTGAGAACAGCATGGTGTAGTAGAGCCTGAAGACCTAGTTCCAGTTGTGCCATGTGCA... | pathogenic | 135,640 |
Gene mutation in CHD7 (chromodomain helicase DNA binding protein 7) at chromosome 8, position 60852838—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['CHARGE_syndrome'] | TACATTATCTTGATAATCTGAAACTTGTTTTTCTTTTCCAAATGTCATTTCCCGCAATCTCCCCAGACCCCCTCCACCACACTGCCATGGCTGCATGTTTTAAATACTGATAGAGTTGCTTTTGATGTCAAACCCATAATTAAAAGTAGCACTGGGCAGATTATTACTCTTTCCTACCCACCCCCCTTCCTTCTTTTGCTTATCAGTATGATTCAAATAATTTTTGTGTTTGTTTTACATAGGGGAGAATTTGATAGAGAAGATGAAGACCCAGAATATAAACCAACCAGAACACCGTTCAAAGATGAAATAGATGTATG... | TACATTATCTTGATAATCTGAAACTTGTTTTTCTTTTCCAAATGTCATTTCCCGCAATCTCCCCAGACCCCCTCCACCACACTGCCATGGCTGCATGTTTTAAATACTGATAGAGTTGCTTTTGATGTCAAACCCATAATTAAAAGTAGCACTGGGCAGATTATTACTCTTTCCTACCCACCCCCCTTCCTTCTTTTGCTTATCAGTATGATTCAAATAATTTTTGTGTTTGTTTTACATAGGGGAGAATTTGATAGAGAAGATGAAGACCCAGAATATAAACCAACCAGAACACCGTTCAAAGATGAAATAGATGTATG... | pathogenic | 135,672 |
Variant chromosome 8, position 60852888, gene CHD7 (chromodomain helicase DNA binding protein 7): benign or pathogenic? Disease(s)? | pathogenic; ['CHARGE_syndrome'] | CCCGCAATCTCCCCAGACCCCCTCCACCACACTGCCATGGCTGCATGTTTTAAATACTGATAGAGTTGCTTTTGATGTCAAACCCATAATTAAAAGTAGCACTGGGCAGATTATTACTCTTTCCTACCCACCCCCCTTCCTTCTTTTGCTTATCAGTATGATTCAAATAATTTTTGTGTTTGTTTTACATAGGGGAGAATTTGATAGAGAAGATGAAGACCCAGAATATAAACCAACCAGAACACCGTTCAAAGATGAAATAGATGTATGAACTTGAGTATATTGGCTTTTATAGCTCCATTAAAATATTATATGCCCAC... | CCCGCAATCTCCCCAGACCCCCTCCACCACACTGCCATGGCTGCATGTTTTAAATACTGATAGAGTTGCTTTTGATGTCAAACCCATAATTAAAAGTAGCACTGGGCAGATTATTACTCTTTCCTACCCACCCCCCTTCCTTCTTTTGCTTATCAGTATGATTCAAATAATTTTTGTGTTTGTTTTACATAGGGGAGAATTTGATAGAGAAGATGAAGACCCAGAATATAAACCAACCAGAACACCGTTCAAAGATGAAATAGATGTATGAACTTGAGTATATTGGCTTTTATAGCTCCATTAAAATATTATATGCCCAC... | pathogenic | 135,676 |
Gene CHD7 (chromodomain helicase DNA binding protein 7) variant at chromosome 8, position 60853093—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['CHARGE_syndrome'] | AGAGAAGATGAAGACCCAGAATATAAACCAACCAGAACACCGTTCAAAGATGAAATAGATGTATGAACTTGAGTATATTGGCTTTTATAGCTCCATTAAAATATTATATGCCCACATAAGACTTGTTAAACTTTATAGATAATGACCTTTTCTTTAAAAGACAAAGAAAAATGAGACCCCAAATTAAAGTAATTCTGTTTCTTGCTTTGCTTTCAAGGAATTTGCAAATTCTCCTTCAGAGGATAAGGAAGAATCCATGGAAATACATGCCACAGGTAAGGTCCCAGAAAAGCTTGTGTAGCCGAGCAGACGTGCACTGA... | AGAGAAGATGAAGACCCAGAATATAAACCAACCAGAACACCGTTCAAAGATGAAATAGATGTATGAACTTGAGTATATTGGCTTTTATAGCTCCATTAAAATATTATATGCCCACATAAGACTTGTTAAACTTTATAGATAATGACCTTTTCTTTAAAAGACAAAGAAAAATGAGACCCCAAATTAAAGTAATTCTGTTTCTTGCTTTGCTTTCAAGGAATTTGCAAATTCTCCTTCAGAGGATAAGGAAGAATCCATGGAAATACATGCCACAGGTAAGGTCCCAGAAAAGCTTGTGTAGCCGAGCAGACGTGCACTGA... | pathogenic | 135,690 |
Classify the chromosome 8 variant at position 60856553 affecting gene CHD7 (chromodomain helicase DNA binding protein 7) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['CHARGE_syndrome'] | CTTCTCGTTTTGGCCTAAGGTTGGCAGGTTTTTGTTGCTGTTGTTTTGCTGACCAAAAAGGATTAGGGTAGAGGAAATCTTTCTAGCTTGATTTTTCAAGTAATTTTAAGGTAAACTTTTGACACAGTATATGAAGACTATAGATTTTTCTTATACTTTTAAAGAATGATCTGAAAAAGCCCAAAGAAAAAAATTGTAGAACACTTTTCTAATAGGATGGGAAATGTGATGTGAAAGAAAGATAATAAGAAATAGAAGTGTGTATATGGATTGATCTTTGGCTCCATGTGGCTTTTAGGTTACTTACCCCCGTTGTCTAG... | CTTCTCGTTTTGGCCTAAGGTTGGCAGGTTTTTGTTGCTGTTGTTTTGCTGACCAAAAAGGATTAGGGTAGAGGAAATCTTTCTAGCTTGATTTTTCAAGTAATTTTAAGGTAAACTTTTGACACAGTATATGAAGACTATAGATTTTTCTTATACTTTTAAAGAATGATCTGAAAAAGCCCAAAGAAAAAAATTGTAGAACACTTTTCTAATAGGATGGGAAATGTGATGTGAAAGAAAGATAATAAGAAATAGAAGTGTGTATATGGATTGATCTTTGGCTCCATGTGGCTTTTAGGTTACTTACCCCCGTTGTCTAG... | pathogenic | 135,733 |
A genetic variant on chromosome 8, position 60856575, affects the gene CHD7 (chromodomain helicase DNA binding protein 7). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['CHARGE_syndrome'] | GGCAGGTTTTTGTTGCTGTTGTTTTGCTGACCAAAAAGGATTAGGGTAGAGGAAATCTTTCTAGCTTGATTTTTCAAGTAATTTTAAGGTAAACTTTTGACACAGTATATGAAGACTATAGATTTTTCTTATACTTTTAAAGAATGATCTGAAAAAGCCCAAAGAAAAAAATTGTAGAACACTTTTCTAATAGGATGGGAAATGTGATGTGAAAGAAAGATAATAAGAAATAGAAGTGTGTATATGGATTGATCTTTGGCTCCATGTGGCTTTTAGGTTACTTACCCCCGTTGTCTAGCATAATGTATGGATTATCACTG... | GGCAGGTTTTTGTTGCTGTTGTTTTGCTGACCAAAAAGGATTAGGGTAGAGGAAATCTTTCTAGCTTGATTTTTCAAGTAATTTTAAGGTAAACTTTTGACACAGTATATGAAGACTATAGATTTTTCTTATACTTTTAAAGAATGATCTGAAAAAGCCCAAAGAAAAAAATTGTAGAACACTTTTCTAATAGGATGGGAAATGTGATGTGAAAGAAAGATAATAAGAAATAGAAGTGTGTATATGGATTGATCTTTGGCTCCATGTGGCTTTTAGGTTACTTACCCCCGTTGTCTAGCATAATGTATGGATTATCACTG... | pathogenic | 135,738 |
Is the genetic variant on chromosome 8, position 60856623, gene CHD7 (chromodomain helicase DNA binding protein 7), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['CHARGE_syndrome'] | GAGGAAATCTTTCTAGCTTGATTTTTCAAGTAATTTTAAGGTAAACTTTTGACACAGTATATGAAGACTATAGATTTTTCTTATACTTTTAAAGAATGATCTGAAAAAGCCCAAAGAAAAAAATTGTAGAACACTTTTCTAATAGGATGGGAAATGTGATGTGAAAGAAAGATAATAAGAAATAGAAGTGTGTATATGGATTGATCTTTGGCTCCATGTGGCTTTTAGGTTACTTACCCCCGTTGTCTAGCATAATGTATGGATTATCACTGTGTTTTAAAATTTTTTTGTGAAATAAAGCCTTCAGATTTAAGACAACT... | GAGGAAATCTTTCTAGCTTGATTTTTCAAGTAATTTTAAGGTAAACTTTTGACACAGTATATGAAGACTATAGATTTTTCTTATACTTTTAAAGAATGATCTGAAAAAGCCCAAAGAAAAAAATTGTAGAACACTTTTCTAATAGGATGGGAAATGTGATGTGAAAGAAAGATAATAAGAAATAGAAGTGTGTATATGGATTGATCTTTGGCTCCATGTGGCTTTTAGGTTACTTACCCCCGTTGTCTAGCATAATGTATGGATTATCACTGTGTTTTAAAATTTTTTTGTGAAATAAAGCCTTCAGATTTAAGACAACT... | pathogenic | 135,741 |
Regarding the variant at chromosome 8 and position 60861094, affecting gene CHD7 (chromodomain helicase DNA binding protein 7): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['CHARGE_syndrome'] | TAAGAATTTGTTGATATTTTTCTTTTTCTAAAGTCCCATTTAGAAAGCCTGAGAGAATTCCTAATTGAAGTTAGAGAATGTATTTTTAAAACTTTTTTTTTTTAACTGTCACATTTTGAAATGTAGGGATTCCTCATTTGGTGTTGTCGGGGGTGATGTGCATGCACATAAAATACAAGGAAAGCACTGCTCGATCTGTAAATAAACCAAGTAGGAAAAGATGTAAAGGCCAGCAGTGTTACCTGGATGAAAGAGGACAGATCCTAGAATTTAGTATTTTGTCAGCACTCTAACTGTGCTGCCATGAAAAAGTAAGAGTG... | TAAGAATTTGTTGATATTTTTCTTTTTCTAAAGTCCCATTTAGAAAGCCTGAGAGAATTCCTAATTGAAGTTAGAGAATGTATTTTTAAAACTTTTTTTTTTTAACTGTCACATTTTGAAATGTAGGGATTCCTCATTTGGTGTTGTCGGGGGTGATGTGCATGCACATAAAATACAAGGAAAGCACTGCTCGATCTGTAAATAAACCAAGTAGGAAAAGATGTAAAGGCCAGCAGTGTTACCTGGATGAAAGAGGACAGATCCTAGAATTTAGTATTTTGTCAGCACTCTAACTGTGCTGCCATGAAAAAGTAAGAGTG... | pathogenic | 135,756 |
Classify the chromosome 8 variant at position 60862624 affecting gene CHD7 (chromodomain helicase DNA binding protein 7) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['CHARGE_syndrome'] | AGGCAAGTGCCACCATGCCTGGCTAATTTTTGTATTTTTTGTAAAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCATTTTCTGACTTTTAATAGCTGTTCCCAAACAACTAGACATTGTTTCTAGTAACTATTTTCTCTTTTTGATAAAAGATCCATTCTAGGATAGCGTTTTCTTGAAATAGGACATTGTCAGAGGCTCTCTCTTCGTGTGAGAATTCATACCATTGTGAACT... | AGGCAAGTGCCACCATGCCTGGCTAATTTTTGTATTTTTTGTAAAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCATTTTCTGACTTTTAATAGCTGTTCCCAAACAACTAGACATTGTTTCTAGTAACTATTTTCTCTTTTTGATAAAAGATCCATTCTAGGATAGCGTTTTCTTGAAATAGGACATTGTCAGAGGCTCTCTCTTCGTGTGAGAATTCATACCATTGTGAACT... | pathogenic | 135,769 |
Determine whether the variant at chromosome 8, position 60865677, in gene CHD7 (chromodomain helicase DNA binding protein 7) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['CHARGE_syndrome'] | TATATTTGAAATATCCAAAATAACACATTATAGAGGGCATAAAACATCCTGGGTTTATATTATGTTATACTATTTTATAATTTTTCTCCCATACAATATCTTTTTTTTTCTTTTTTTTTTTTTTTTTTGAGACAAGGTGTTTGTCACCCAGGCTGGAGTGCAGTGGTGAAATCACAGCTCACTACAGCCTCATTCTCCTAGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAGCAGCTGGCACTACAGGCACACATCACCAAGCTTGGCTAGTTTTTGTATTTTTTGTAGAGAAGGCATTTTGCCACGTTGCCCAGGCT... | TATATTTGAAATATCCAAAATAACACATTATAGAGGGCATAAAACATCCTGGGTTTATATTATGTTATACTATTTTATAATTTTTCTCCCATACAATATCTTTTTTTTTCTTTTTTTTTTTTTTTTTTGAGACAAGGTGTTTGTCACCCAGGCTGGAGTGCAGTGGTGAAATCACAGCTCACTACAGCCTCATTCTCCTAGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAGCAGCTGGCACTACAGGCACACATCACCAAGCTTGGCTAGTTTTTGTATTTTTTGTAGAGAAGGCATTTTGCCACGTTGCCCAGGCT... | pathogenic | 135,796 |
Benign or pathogenic: chromosome 8, position 60865894, gene CHD7 (chromodomain helicase DNA binding protein 7) variant? Disease(s) if pathogenic? | pathogenic; ['CHARGE_syndrome', 'Inborn_genetic_diseases'] | CACCTCAGCCTCCCAAGCAGCTGGCACTACAGGCACACATCACCAAGCTTGGCTAGTTTTTGTATTTTTTGTAGAGAAGGCATTTTGCCACGTTGCCCAGGCTGGTCTCAAACTCACCTCAAGCAATCTGCCTGCCCTGACCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCCAAAATTTTTTTTTAATTGACAGATATTTAATTGACAAAAATTAATTGATGAATCAAATATATATGCAAGGTGTACAGCACAGTGTTTTTTTCTTTTAAGAGACAGGGTCTTGCTGTGTCACCCAGGCTGGAGTG... | CACCTCAGCCTCCCAAGCAGCTGGCACTACAGGCACACATCACCAAGCTTGGCTAGTTTTTGTATTTTTTGTAGAGAAGGCATTTTGCCACGTTGCCCAGGCTGGTCTCAAACTCACCTCAAGCAATCTGCCTGCCCTGACCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCCAAAATTTTTTTTTAATTGACAGATATTTAATTGACAAAAATTAATTGATGAATCAAATATATATGCAAGGTGTACAGCACAGTGTTTTTTTCTTTTAAGAGACAGGGTCTTGCTGTGTCACCCAGGCTGGAGTG... | pathogenic | 135,805 |
Determine whether the variant at chromosome 8, position 60866050, in gene CHD7 (chromodomain helicase DNA binding protein 7) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GATTACAGGTGTGAGCCACTGTGCCCAGCCAAAATTTTTTTTTAATTGACAGATATTTAATTGACAAAAATTAATTGATGAATCAAATATATATGCAAGGTGTACAGCACAGTGTTTTTTTCTTTTAAGAGACAGGGTCTTGCTGTGTCACCCAGGCTGGAGTGCAATGGTGCAATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCAGTCCTCCCACCTCAGCCTCCTGATTAGCCAAGTAGCTGGGATGACAAGCATATGCCACCACACCTGGATATTTTTTTTTTATTTTGTAGAGATAGGGTCTTGCTAT... | GATTACAGGTGTGAGCCACTGTGCCCAGCCAAAATTTTTTTTTAATTGACAGATATTTAATTGACAAAAATTAATTGATGAATCAAATATATATGCAAGGTGTACAGCACAGTGTTTTTTTCTTTTAAGAGACAGGGTCTTGCTGTGTCACCCAGGCTGGAGTGCAATGGTGCAATCATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCAGTCCTCCCACCTCAGCCTCCTGATTAGCCAAGTAGCTGGGATGACAAGCATATGCCACCACACCTGGATATTTTTTTTTTATTTTGTAGAGATAGGGTCTTGCTAT... | benign | 135,806 |
Clinically, how would you classify the variant at chromosome 8, position 61503452, gene ASPH (aspartate beta-hydroxylase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Facial_dysmorphism-lens_dislocation-anterior_segment_abnormalities-spontaneous_filtering_blebs_syndrome'] | ATATTTACTAAGTTAAGAGCTAGTTTTTACTCTCTTCCATAATTTCATTACATGAATGTAAGATGATGGCTCAAAAATGACGACTTATAGTTTGAATTTATGTGTATGCAATATACATATGAGAACCAAATTCAACAAGTGACATGAATGTTACTACATGAACATTGAATTGTATTGCCCTTGTCAGTTATTTCCTCTGTTCAATAAATACTGAAGGTCACAAACACCTTTTTACTTTTCAAGAGTTTGCCTTCTCTTCTCGATTTTAGTAATTAATTTGGATATTTTTCCTCCCATGCCTCTTCATCTGATTTAGTGGG... | ATATTTACTAAGTTAAGAGCTAGTTTTTACTCTCTTCCATAATTTCATTACATGAATGTAAGATGATGGCTCAAAAATGACGACTTATAGTTTGAATTTATGTGTATGCAATATACATATGAGAACCAAATTCAACAAGTGACATGAATGTTACTACATGAACATTGAATTGTATTGCCCTTGTCAGTTATTTCCTCTGTTCAATAAATACTGAAGGTCACAAACACCTTTTTACTTTTCAAGAGTTTGCCTTCTCTTCTCGATTTTAGTAATTAATTTGGATATTTTTCCTCCCATGCCTCTTCATCTGATTTAGTGGG... | pathogenic | 135,807 |
The mutation impacting TTPA (alpha tocopherol transfer protein) on chromosome 8 at position 63061344: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia,_Friedreich-like,_with_isolated_vitamin_E_deficiency', 'Familial_isolated_deficiency_of_vitamin_E'] | TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGTCCAGTTTTTTAATAAAAATTATAATGTTGTTAGCTTCCCAATACTAAGTCAAAATCAAAACACGTTCTCTAAAGAACAACCACAATTACTTTCAATTTTATCATAGATATATGTATAATCCTAAGTATCAGCTCACCTGATTAAACTAATTTTCTTATAAAGAAAAACACCCTTCACATATCCTTACATAAAGATACTATTAATGTATATGATTAATGTTGAAACCTAACTAGCTGAACAAATGTTCAACAGATTTTGGACCCCATATTCTACATTTT... | TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGGTCCAGTTTTTTAATAAAAATTATAATGTTGTTAGCTTCCCAATACTAAGTCAAAATCAAAACACGTTCTCTAAAGAACAACCACAATTACTTTCAATTTTATCATAGATATATGTATAATCCTAAGTATCAGCTCACCTGATTAAACTAATTTTCTTATAAAGAAAAACACCCTTCACATATCCTTACATAAAGATACTATTAATGTATATGATTAATGTTGAAACCTAACTAGCTGAACAAATGTTCAACAGATTTTGGACCCCATATTCTACATTTT... | pathogenic | 135,849 |
A mutation at chromosome position 63064216 on chromosome 8 in gene TTPA (alpha tocopherol transfer protein): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_isolated_deficiency_of_vitamin_E'] | AGGCCCTGTCTAAAAAAAAAAAAAGAATTAAAAGAATTAAAAAGTCAAATTTTAAAAAAGTATTAAAAAACAATTATGATAGTTGAGAACCTTAACTTTTCAAATATTTTAAACTATAAAATTGATCATAGAATGCCCTGAAGTTAAGAGAAAGCCGTAGAAACTTGAACCAAAAGCATACCTGCTAAAATAAATAAATAACCTTTTTTCACTTTCTAGGGCAAAATGTTCCTCTATGTATTCAACAATCATTTAATAAGCATCTATTATGTGCTGGGATATGAGGTTTGATGGATGAAATGAGTTTCCTATACTCACTT... | AGGCCCTGTCTAAAAAAAAAAAAAGAATTAAAAGAATTAAAAAGTCAAATTTTAAAAAAGTATTAAAAAACAATTATGATAGTTGAGAACCTTAACTTTTCAAATATTTTAAACTATAAAATTGATCATAGAATGCCCTGAAGTTAAGAGAAAGCCGTAGAAACTTGAACCAAAAGCATACCTGCTAAAATAAATAAATAACCTTTTTTCACTTTCTAGGGCAAAATGTTCCTCTATGTATTCAACAATCATTTAATAAGCATCTATTATGTGCTGGGATATGAGGTTTGATGGATGAAATGAGTTTCCTATACTCACTT... | pathogenic | 135,857 |
Variant on chromosome 8, at position 63064280, affecting TTPA (alpha tocopherol transfer protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_isolated_deficiency_of_vitamin_E'] | AAAAAACAATTATGATAGTTGAGAACCTTAACTTTTCAAATATTTTAAACTATAAAATTGATCATAGAATGCCCTGAAGTTAAGAGAAAGCCGTAGAAACTTGAACCAAAAGCATACCTGCTAAAATAAATAAATAACCTTTTTTCACTTTCTAGGGCAAAATGTTCCTCTATGTATTCAACAATCATTTAATAAGCATCTATTATGTGCTGGGATATGAGGTTTGATGGATGAAATGAGTTTCCTATACTCACTTAGGAAACTCACAAAGCCAATCTTTAATTTTTTCTGAAATATGTAAAATATTATCAGGTAATTGA... | AAAAAACAATTATGATAGTTGAGAACCTTAACTTTTCAAATATTTTAAACTATAAAATTGATCATAGAATGCCCTGAAGTTAAGAGAAAGCCGTAGAAACTTGAACCAAAAGCATACCTGCTAAAATAAATAAATAACCTTTTTTCACTTTCTAGGGCAAAATGTTCCTCTATGTATTCAACAATCATTTAATAAGCATCTATTATGTGCTGGGATATGAGGTTTGATGGATGAAATGAGTTTCCTATACTCACTTAGGAAACTCACAAAGCCAATCTTTAATTTTTTCTGAAATATGTAAAATATTATCAGGTAATTGA... | pathogenic | 135,858 |
The mutation in gene TTPA (alpha tocopherol transfer protein) at chromosome 8, position 63065942—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia,_Friedreich-like,_with_isolated_vitamin_E_deficiency', 'Familial_isolated_deficiency_of_vitamin_E', 'Retinal_dystrophy'] | TAATTCAAGACAGTGATTTTGATGTCTTTGCCACACTGCCCTCTATAGGAATATACCATTAAGCATTCCAACCAGCAGTGTATGAAAAGCCCAGTTACCCCACAGTCTTACAACCAATATACTTGATTTTTATAAATTAAAAGTAAATTTTAATTTACTTTTTTTTAGTTGGCTTGTTAGATAAATATTCAAAATATTGGGCTAATGATATAGATGGGCAGGTACGAGGAAAGATGATAAAGCAATCCTTAAATTAAAAAGGGTTGGAATGTTTGGTGTAGAGGAACACAGACTTGAATATATTTTACTCACCCGTTCCT... | TAATTCAAGACAGTGATTTTGATGTCTTTGCCACACTGCCCTCTATAGGAATATACCATTAAGCATTCCAACCAGCAGTGTATGAAAAGCCCAGTTACCCCACAGTCTTACAACCAATATACTTGATTTTTATAAATTAAAAGTAAATTTTAATTTACTTTTTTTTAGTTGGCTTGTTAGATAAATATTCAAAATATTGGGCTAATGATATAGATGGGCAGGTACGAGGAAAGATGATAAAGCAATCCTTAAATTAAAAAGGGTTGGAATGTTTGGTGTAGAGGAACACAGACTTGAATATATTTTACTCACCCGTTCCT... | pathogenic | 135,861 |
Does the genetic variant at chromosome 8, position 63065968, impacting gene TTPA (alpha tocopherol transfer protein), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Ataxia,_Friedreich-like,_with_isolated_vitamin_E_deficiency', 'Familial_isolated_deficiency_of_vitamin_E'] | TTTGCCACACTGCCCTCTATAGGAATATACCATTAAGCATTCCAACCAGCAGTGTATGAAAAGCCCAGTTACCCCACAGTCTTACAACCAATATACTTGATTTTTATAAATTAAAAGTAAATTTTAATTTACTTTTTTTTAGTTGGCTTGTTAGATAAATATTCAAAATATTGGGCTAATGATATAGATGGGCAGGTACGAGGAAAGATGATAAAGCAATCCTTAAATTAAAAAGGGTTGGAATGTTTGGTGTAGAGGAACACAGACTTGAATATATTTTACTCACCCGTTCCTTAATTTTTTCAGTCAGGAATGGTTTG... | TTTGCCACACTGCCCTCTATAGGAATATACCATTAAGCATTCCAACCAGCAGTGTATGAAAAGCCCAGTTACCCCACAGTCTTACAACCAATATACTTGATTTTTATAAATTAAAAGTAAATTTTAATTTACTTTTTTTTAGTTGGCTTGTTAGATAAATATTCAAAATATTGGGCTAATGATATAGATGGGCAGGTACGAGGAAAGATGATAAAGCAATCCTTAAATTAAAAAGGGTTGGAATGTTTGGTGTAGAGGAACACAGACTTGAATATATTTTACTCACCCGTTCCTTAATTTTTTCAGTCAGGAATGGTTTG... | pathogenic | 135,862 |
Is chromosome 8, position 63066099, gene TTPA (alpha tocopherol transfer protein) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CTTTTTTTTAGTTGGCTTGTTAGATAAATATTCAAAATATTGGGCTAATGATATAGATGGGCAGGTACGAGGAAAGATGATAAAGCAATCCTTAAATTAAAAAGGGTTGGAATGTTTGGTGTAGAGGAACACAGACTTGAATATATTTTACTCACCCGTTCCTTAATTTTTTCAGTCAGGAATGGTTTGATCATGGAAAAGACAGCATGGAAAATTACTGGTTCATTTATCAAATGGATGCCACGAACTTTCAATGGAAATGAATCCTTTTGAAAATAAAAAAATCTTAATAACAAAACATAAATATTACAATCTGATAC... | CTTTTTTTTAGTTGGCTTGTTAGATAAATATTCAAAATATTGGGCTAATGATATAGATGGGCAGGTACGAGGAAAGATGATAAAGCAATCCTTAAATTAAAAAGGGTTGGAATGTTTGGTGTAGAGGAACACAGACTTGAATATATTTTACTCACCCGTTCCTTAATTTTTTCAGTCAGGAATGGTTTGATCATGGAAAAGACAGCATGGAAAATTACTGGTTCATTTATCAAATGGATGCCACGAACTTTCAATGGAAATGAATCCTTTTGAAAATAAAAAAATCTTAATAACAAAACATAAATATTACAATCTGATAC... | benign | 135,868 |
A genetic variant at chromosome 8, position 63072983, affecting gene TTPA (alpha tocopherol transfer protein)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_isolated_deficiency_of_vitamin_E'] | TTTTAACATAAGAATGCTCCATACATACTTTAAAAAAACTGTTGTTTATCTGAAATTCAAATAACTGGGCATCCTTTATTTTTATAACATATAGGTTTATTTCCTAAATAAAACATAGGTACTTTGTTAAATCTGGCAAGACTACCCCTAAGAAGCTCAAGGAACTTCATTGCTATGAGCTCATTCAATTTCCTCTGACACTGGTGCAGCAATGAAAGAACAGGAAGATCATGATGTCTGTTTTATAGATGGGATTTCATGATTAACTCAATTTTATTTGACACTTAAGCTAGGGCAAAAAAAATTAAAAAACAGCCCCA... | TTTTAACATAAGAATGCTCCATACATACTTTAAAAAAACTGTTGTTTATCTGAAATTCAAATAACTGGGCATCCTTTATTTTTATAACATATAGGTTTATTTCCTAAATAAAACATAGGTACTTTGTTAAATCTGGCAAGACTACCCCTAAGAAGCTCAAGGAACTTCATTGCTATGAGCTCATTCAATTTCCTCTGACACTGGTGCAGCAATGAAAGAACAGGAAGATCATGATGTCTGTTTTATAGATGGGATTTCATGATTAACTCAATTTTATTTGACACTTAAGCTAGGGCAAAAAAAATTAAAAAACAGCCCCA... | pathogenic | 135,870 |
Considering the genetic mutation at chromosome 8, position 63073064, impacting TTPA (alpha tocopherol transfer protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_isolated_deficiency_of_vitamin_E'] | TTATAACATATAGGTTTATTTCCTAAATAAAACATAGGTACTTTGTTAAATCTGGCAAGACTACCCCTAAGAAGCTCAAGGAACTTCATTGCTATGAGCTCATTCAATTTCCTCTGACACTGGTGCAGCAATGAAAGAACAGGAAGATCATGATGTCTGTTTTATAGATGGGATTTCATGATTAACTCAATTTTATTTGACACTTAAGCTAGGGCAAAAAAAATTAAAAAACAGCCCCAAATCATTTTACTCGATCTTCCAATATCCTTTCAAAAATTAAATACAGTAACTTCTTGCAGTATGGCAAGCAGTTGAGTTAC... | TTATAACATATAGGTTTATTTCCTAAATAAAACATAGGTACTTTGTTAAATCTGGCAAGACTACCCCTAAGAAGCTCAAGGAACTTCATTGCTATGAGCTCATTCAATTTCCTCTGACACTGGTGCAGCAATGAAAGAACAGGAAGATCATGATGTCTGTTTTATAGATGGGATTTCATGATTAACTCAATTTTATTTGACACTTAAGCTAGGGCAAAAAAAATTAAAAAACAGCCCCAAATCATTTTACTCGATCTTCCAATATCCTTTCAAAAATTAAATACAGTAACTTCTTGCAGTATGGCAAGCAGTTGAGTTAC... | pathogenic | 135,873 |
Gene TTPA (alpha tocopherol transfer protein) variant at chromosome position 63073073 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_isolated_deficiency_of_vitamin_E'] | ATAGGTTTATTTCCTAAATAAAACATAGGTACTTTGTTAAATCTGGCAAGACTACCCCTAAGAAGCTCAAGGAACTTCATTGCTATGAGCTCATTCAATTTCCTCTGACACTGGTGCAGCAATGAAAGAACAGGAAGATCATGATGTCTGTTTTATAGATGGGATTTCATGATTAACTCAATTTTATTTGACACTTAAGCTAGGGCAAAAAAAATTAAAAAACAGCCCCAAATCATTTTACTCGATCTTCCAATATCCTTTCAAAAATTAAATACAGTAACTTCTTGCAGTATGGCAAGCAGTTGAGTTACAGGCAGGTA... | ATAGGTTTATTTCCTAAATAAAACATAGGTACTTTGTTAAATCTGGCAAGACTACCCCTAAGAAGCTCAAGGAACTTCATTGCTATGAGCTCATTCAATTTCCTCTGACACTGGTGCAGCAATGAAAGAACAGGAAGATCATGATGTCTGTTTTATAGATGGGATTTCATGATTAACTCAATTTTATTTGACACTTAAGCTAGGGCAAAAAAAATTAAAAAACAGCCCCAAATCATTTTACTCGATCTTCCAATATCCTTTCAAAAATTAAATACAGTAACTTCTTGCAGTATGGCAAGCAGTTGAGTTACAGGCAGGTA... | pathogenic | 135,874 |
A genetic alteration at chromosome 8, position 63085839, in gene TTPA (alpha tocopherol transfer protein)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_isolated_deficiency_of_vitamin_E'] | ACACAAATTGTGTTTGATAATACAGTGTGGGTTATGGAGGAAAAGGCAAAATCATGTAATATCAGAGTGATGAGTTATAGAGTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTGAGACAGGGCCTCACTCTGTTGTCCAGGCTGTGGTGCAGTAGCACAATCTCGGCTCTCTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGATTACATGCACGTGCCACCACACCTGGCTAATTTTTGTTATTTTTTGTAGAGATGAGGTTTCACCATGTTGCACAGGCTGTTCGTGAGCT... | ACACAAATTGTGTTTGATAATACAGTGTGGGTTATGGAGGAAAAGGCAAAATCATGTAATATCAGAGTGATGAGTTATAGAGTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTGAGACAGGGCCTCACTCTGTTGTCCAGGCTGTGGTGCAGTAGCACAATCTCGGCTCTCTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGATTACATGCACGTGCCACCACACCTGGCTAATTTTTGTTATTTTTTGTAGAGATGAGGTTTCACCATGTTGCACAGGCTGTTCGTGAGCT... | pathogenic | 135,879 |
Does the genetic variant at chromosome 8, position 63085903, impacting gene TTPA (alpha tocopherol transfer protein), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_isolated_deficiency_of_vitamin_E'] | GAGTGATGAGTTATAGAGTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTGAGACAGGGCCTCACTCTGTTGTCCAGGCTGTGGTGCAGTAGCACAATCTCGGCTCTCTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGATTACATGCACGTGCCACCACACCTGGCTAATTTTTGTTATTTTTTGTAGAGATGAGGTTTCACCATGTTGCACAGGCTGTTCGTGAGCTCCTGAGCTCAATTGATCCACCATCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCCTGAGCTAC... | GAGTGATGAGTTATAGAGTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTGAGACAGGGCCTCACTCTGTTGTCCAGGCTGTGGTGCAGTAGCACAATCTCGGCTCTCTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGATTACATGCACGTGCCACCACACCTGGCTAATTTTTGTTATTTTTTGTAGAGATGAGGTTTCACCATGTTGCACAGGCTGTTCGTGAGCTCCTGAGCTCAATTGATCCACCATCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCCTGAGCTAC... | pathogenic | 135,883 |
The mutation impacting TTPA (alpha tocopherol transfer protein) on chromosome 8 at position 63085930: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_isolated_deficiency_of_vitamin_E'] | TTTTTTTTCTTTTTTTTTTTTGAGACAGGGCCTCACTCTGTTGTCCAGGCTGTGGTGCAGTAGCACAATCTCGGCTCTCTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGATTACATGCACGTGCCACCACACCTGGCTAATTTTTGTTATTTTTTGTAGAGATGAGGTTTCACCATGTTGCACAGGCTGTTCGTGAGCTCCTGAGCTCAATTGATCCACCATCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCCTGAGCTACTGCGACCTTTGGAAGGCACTGAAAACT... | TTTTTTTTCTTTTTTTTTTTTGAGACAGGGCCTCACTCTGTTGTCCAGGCTGTGGTGCAGTAGCACAATCTCGGCTCTCTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGATTACATGCACGTGCCACCACACCTGGCTAATTTTTGTTATTTTTTGTAGAGATGAGGTTTCACCATGTTGCACAGGCTGTTCGTGAGCTCCTGAGCTCAATTGATCCACCATCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCCTGAGCTACTGCGACCTTTGGAAGGCACTGAAAACT... | pathogenic | 135,884 |
Is the genetic change at chromosome 8, position 63085947, within gene TTPA (alpha tocopherol transfer protein) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_isolated_deficiency_of_vitamin_E'] | TTTTGAGACAGGGCCTCACTCTGTTGTCCAGGCTGTGGTGCAGTAGCACAATCTCGGCTCTCTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGATTACATGCACGTGCCACCACACCTGGCTAATTTTTGTTATTTTTTGTAGAGATGAGGTTTCACCATGTTGCACAGGCTGTTCGTGAGCTCCTGAGCTCAATTGATCCACCATCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCCTGAGCTACTGCGACCTTTGGAAGGCACTGAAAACTCTTTGGAAGACAGTTTG... | TTTTGAGACAGGGCCTCACTCTGTTGTCCAGGCTGTGGTGCAGTAGCACAATCTCGGCTCTCTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGATTACATGCACGTGCCACCACACCTGGCTAATTTTTGTTATTTTTTGTAGAGATGAGGTTTCACCATGTTGCACAGGCTGTTCGTGAGCTCCTGAGCTCAATTGATCCACCATCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCCTGAGCTACTGCGACCTTTGGAAGGCACTGAAAACTCTTTGGAAGACAGTTTG... | pathogenic | 135,885 |
Does the genetic variant at chromosome 8, position 63086002, impacting gene TTPA (alpha tocopherol transfer protein), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_isolated_deficiency_of_vitamin_E', 'Inborn_genetic_diseases'] | GGCTCTCTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGATTACATGCACGTGCCACCACACCTGGCTAATTTTTGTTATTTTTTGTAGAGATGAGGTTTCACCATGTTGCACAGGCTGTTCGTGAGCTCCTGAGCTCAATTGATCCACCATCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCCTGAGCTACTGCGACCTTTGGAAGGCACTGAAAACTCTTTGGAAGACAGTTTGTTATATTACTCAACACTGAAAAATACACATCTAATTTCATCCAGCAATTTCACCG... | GGCTCTCTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGATTACATGCACGTGCCACCACACCTGGCTAATTTTTGTTATTTTTTGTAGAGATGAGGTTTCACCATGTTGCACAGGCTGTTCGTGAGCTCCTGAGCTCAATTGATCCACCATCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCCTGAGCTACTGCGACCTTTGGAAGGCACTGAAAACTCTTTGGAAGACAGTTTGTTATATTACTCAACACTGAAAAATACACATCTAATTTCATCCAGCAATTTCACCG... | pathogenic | 135,888 |
Evaluate the clinical significance of the mutation at chromosome 8, position 64596876 in gene CYP7B1 (cytochrome P450 family 7 subfamily B member 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Congenital_bile_acid_synthesis_defect_3', 'Hereditary_spastic_paraplegia_5A', 'Spastic_paraplegia'] | GTGAGAGGATCTAATGTAGAGTGTGAGAACAGTAATATTCACAGAGAGAATGGCTGAGAAGATTCCATACTTGATGGGAGACACCTGTGCTCAGATTCAAGAAGCAGCAGGACATGCAAGCATGAGAAACAGAAAGAAACTAAGAACATCAAAGACAAAGAGGACACGTTAAAGTAGTCAGAGAGAAGAGACAGACTACCTATTGAGTAATTAAACTCACTAACGGCTATCCGCCCAATAACAACAATGGATACCTTAAGAACGGGCAATATCTTCAAAGTGCTGTGAGGAAATAACTGTCAATCTAGATTTGTGCATCC... | GTGAGAGGATCTAATGTAGAGTGTGAGAACAGTAATATTCACAGAGAGAATGGCTGAGAAGATTCCATACTTGATGGGAGACACCTGTGCTCAGATTCAAGAAGCAGCAGGACATGCAAGCATGAGAAACAGAAAGAAACTAAGAACATCAAAGACAAAGAGGACACGTTAAAGTAGTCAGAGAGAAGAGACAGACTACCTATTGAGTAATTAAACTCACTAACGGCTATCCGCCCAATAACAACAATGGATACCTTAAGAACGGGCAATATCTTCAAAGTGCTGTGAGGAAATAACTGTCAATCTAGATTTGTGCATCC... | pathogenic | 135,898 |
A genetic variant at chromosome 8, position 64604764, affecting gene CYP7B1 (cytochrome P450 family 7 subfamily B member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Spastic_paraplegia'] | ACTTTTCTAGAACAATCTCCTTTTCTTTACTGTCAATATATGGTGGCTTGGGATGGACATCTCTTTTAAGAGCATCTATAGCATCTACTTATTGCCATATGAAGTTGTTAAGAATCAAAGGAATAACTGATATGTCTGAGAGTGGTAGTCACTCAGAAAATGTTTATACAATGAATGATAAAACCTTCCCAAATTCTATAAAACTGGTTCTGAGCTATATCATTTTTTTTCTGTGCCAGGTATTATCAGCATTCTCCAACTAATTTCAAGGAAACAATGGCGTGACAATAAATTAGTTAATTTTAACATTAGTCAGGCAT... | ACTTTTCTAGAACAATCTCCTTTTCTTTACTGTCAATATATGGTGGCTTGGGATGGACATCTCTTTTAAGAGCATCTATAGCATCTACTTATTGCCATATGAAGTTGTTAAGAATCAAAGGAATAACTGATATGTCTGAGAGTGGTAGTCACTCAGAAAATGTTTATACAATGAATGATAAAACCTTCCCAAATTCTATAAAACTGGTTCTGAGCTATATCATTTTTTTTCTGTGCCAGGTATTATCAGCATTCTCCAACTAATTTCAAGGAAACAATGGCGTGACAATAAATTAGTTAATTTTAACATTAGTCAGGCAT... | pathogenic | 135,905 |
Does the variant impacting CYP7B1 (cytochrome P450 family 7 subfamily B member 1) on chromosome 8, position 64615890, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_5A', 'Spastic_paraplegia'] | GAACACTTGGGGCATTTTCCTCAATGGCCACTGAGGGTGAACATTGACCAAACCTGGGAGGACTTTTGCTCCTGAAAGGTCCCATTAAAGAACCTGGAACATATTTAAAAGATAAAAAATTGAGACCAACATAGGCTAAAATGCTCGCCTACATTGTCAAAGGAATAAAGAAACAGAAATATGTGAACATTTGTTCCTGCGTTTGTCTAAAGAAACTTGGAATATTGTACCCTAAAGGATACCGCAGGATGAAATGTCAATACAGAGAGAATAGAGAATAACTCATTGGTATGGAATTTAACTTTGGCAGTAGAAGTTCA... | GAACACTTGGGGCATTTTCCTCAATGGCCACTGAGGGTGAACATTGACCAAACCTGGGAGGACTTTTGCTCCTGAAAGGTCCCATTAAAGAACCTGGAACATATTTAAAAGATAAAAAATTGAGACCAACATAGGCTAAAATGCTCGCCTACATTGTCAAAGGAATAAAGAAACAGAAATATGTGAACATTTGTTCCTGCGTTTGTCTAAAGAAACTTGGAATATTGTACCCTAAAGGATACCGCAGGATGAAATGTCAATACAGAGAGAATAGAGAATAACTCATTGGTATGGAATTTAACTTTGGCAGTAGAAGTTCA... | pathogenic | 135,915 |
Classify the chromosome 8 variant at position 64615905 affecting gene CYP7B1 (cytochrome P450 family 7 subfamily B member 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Spastic_paraplegia'] | TTTCCTCAATGGCCACTGAGGGTGAACATTGACCAAACCTGGGAGGACTTTTGCTCCTGAAAGGTCCCATTAAAGAACCTGGAACATATTTAAAAGATAAAAAATTGAGACCAACATAGGCTAAAATGCTCGCCTACATTGTCAAAGGAATAAAGAAACAGAAATATGTGAACATTTGTTCCTGCGTTTGTCTAAAGAAACTTGGAATATTGTACCCTAAAGGATACCGCAGGATGAAATGTCAATACAGAGAGAATAGAGAATAACTCATTGGTATGGAATTTAACTTTGGCAGTAGAAGTTCAGTCAGGGAATGGTAG... | TTTCCTCAATGGCCACTGAGGGTGAACATTGACCAAACCTGGGAGGACTTTTGCTCCTGAAAGGTCCCATTAAAGAACCTGGAACATATTTAAAAGATAAAAAATTGAGACCAACATAGGCTAAAATGCTCGCCTACATTGTCAAAGGAATAAAGAAACAGAAATATGTGAACATTTGTTCCTGCGTTTGTCTAAAGAAACTTGGAATATTGTACCCTAAAGGATACCGCAGGATGAAATGTCAATACAGAGAGAATAGAGAATAACTCATTGGTATGGAATTTAACTTTGGCAGTAGAAGTTCAGTCAGGGAATGGTAG... | pathogenic | 135,917 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 8, position 64616148, gene CYP7B1 (cytochrome P450 family 7 subfamily B member 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Spastic_paraplegia'] | AATACAGAGAGAATAGAGAATAACTCATTGGTATGGAATTTAACTTTGGCAGTAGAAGTTCAGTCAGGGAATGGTAGTGAACAGCCTTCTCAAAGTAGTAAAGGGGAACGAAATCTTTAATTTGCAGCGTGCTAATTAAACGAAATCTGCTGCGATTAAAAGCTCCAGTCATTGAGGTACAGACCTATGTAGAAATAGAAAAAAACCTTAGTCACTACCAACCTCAAACATACTTGAAATAGTGACCATGTATATCTCATGAGTCGGTGAGTATTTTATAAAATATCAATGTTTCACAGGAATAGTTTGTAGTTGTTGCT... | AATACAGAGAGAATAGAGAATAACTCATTGGTATGGAATTTAACTTTGGCAGTAGAAGTTCAGTCAGGGAATGGTAGTGAACAGCCTTCTCAAAGTAGTAAAGGGGAACGAAATCTTTAATTTGCAGCGTGCTAATTAAACGAAATCTGCTGCGATTAAAAGCTCCAGTCATTGAGGTACAGACCTATGTAGAAATAGAAAAAAACCTTAGTCACTACCAACCTCAAACATACTTGAAATAGTGACCATGTATATCTCATGAGTCGGTGAGTATTTTATAAAATATCAATGTTTCACAGGAATAGTTTGTAGTTGTTGCT... | pathogenic | 135,919 |
Gene CYP7B1 (cytochrome P450 family 7 subfamily B member 1) variant at chromosome position 64616216 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Congenital_bile_acid_synthesis_defect_3', 'Hereditary_spastic_paraplegia_5A', 'Inborn_genetic_diseases', 'Spastic_paraplegia'] | GAATGGTAGTGAACAGCCTTCTCAAAGTAGTAAAGGGGAACGAAATCTTTAATTTGCAGCGTGCTAATTAAACGAAATCTGCTGCGATTAAAAGCTCCAGTCATTGAGGTACAGACCTATGTAGAAATAGAAAAAAACCTTAGTCACTACCAACCTCAAACATACTTGAAATAGTGACCATGTATATCTCATGAGTCGGTGAGTATTTTATAAAATATCAATGTTTCACAGGAATAGTTTGTAGTTGTTGCTTTTCCTTTTCTTTTTCTCCCTTTCTCTCTTCCTTCCTTCCCTCTGTCCCTCCTCCGTTTCTTCTTTTC... | GAATGGTAGTGAACAGCCTTCTCAAAGTAGTAAAGGGGAACGAAATCTTTAATTTGCAGCGTGCTAATTAAACGAAATCTGCTGCGATTAAAAGCTCCAGTCATTGAGGTACAGACCTATGTAGAAATAGAAAAAAACCTTAGTCACTACCAACCTCAAACATACTTGAAATAGTGACCATGTATATCTCATGAGTCGGTGAGTATTTTATAAAATATCAATGTTTCACAGGAATAGTTTGTAGTTGTTGCTTTTCCTTTTCTTTTTCTCCCTTTCTCTCTTCCTTCCTTCCCTCTGTCCCTCCTCCGTTTCTTCTTTTC... | pathogenic | 135,921 |
Mutation at chromosome 8, position 64616226, within CYP7B1 (cytochrome P450 family 7 subfamily B member 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_5A', 'Spastic_paraplegia'] | GAACAGCCTTCTCAAAGTAGTAAAGGGGAACGAAATCTTTAATTTGCAGCGTGCTAATTAAACGAAATCTGCTGCGATTAAAAGCTCCAGTCATTGAGGTACAGACCTATGTAGAAATAGAAAAAAACCTTAGTCACTACCAACCTCAAACATACTTGAAATAGTGACCATGTATATCTCATGAGTCGGTGAGTATTTTATAAAATATCAATGTTTCACAGGAATAGTTTGTAGTTGTTGCTTTTCCTTTTCTTTTTCTCCCTTTCTCTCTTCCTTCCTTCCCTCTGTCCCTCCTCCGTTTCTTCTTTTCTATTTTTTCC... | GAACAGCCTTCTCAAAGTAGTAAAGGGGAACGAAATCTTTAATTTGCAGCGTGCTAATTAAACGAAATCTGCTGCGATTAAAAGCTCCAGTCATTGAGGTACAGACCTATGTAGAAATAGAAAAAAACCTTAGTCACTACCAACCTCAAACATACTTGAAATAGTGACCATGTATATCTCATGAGTCGGTGAGTATTTTATAAAATATCAATGTTTCACAGGAATAGTTTGTAGTTGTTGCTTTTCCTTTTCTTTTTCTCCCTTTCTCTCTTCCTTCCTTCCCTCTGTCCCTCCTCCGTTTCTTCTTTTCTATTTTTTCC... | pathogenic | 135,922 |
The mutation impacting CYP7B1 (cytochrome P450 family 7 subfamily B member 1) on chromosome 8 at position 64616285: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAACGAAATCTGCTGCGATTAAAAGCTCCAGTCATTGAGGTACAGACCTATGTAGAAATAGAAAAAAACCTTAGTCACTACCAACCTCAAACATACTTGAAATAGTGACCATGTATATCTCATGAGTCGGTGAGTATTTTATAAAATATCAATGTTTCACAGGAATAGTTTGTAGTTGTTGCTTTTCCTTTTCTTTTTCTCCCTTTCTCTCTTCCTTCCTTCCCTCTGTCCCTCCTCCGTTTCTTCTTTTCTATTTTTTCCCTCTTTTCCTTTTTTGTGGGTTTAAATCACGAACTTCCAATGGAAAACTGTTTTCTGTG... | AAACGAAATCTGCTGCGATTAAAAGCTCCAGTCATTGAGGTACAGACCTATGTAGAAATAGAAAAAAACCTTAGTCACTACCAACCTCAAACATACTTGAAATAGTGACCATGTATATCTCATGAGTCGGTGAGTATTTTATAAAATATCAATGTTTCACAGGAATAGTTTGTAGTTGTTGCTTTTCCTTTTCTTTTTCTCCCTTTCTCTCTTCCTTCCTTCCCTCTGTCCCTCCTCCGTTTCTTCTTTTCTATTTTTTCCCTCTTTTCCTTTTTTGTGGGTTTAAATCACGAACTTCCAATGGAAAACTGTTTTCTGTG... | benign | 135,924 |
Clinical impact (benign or pathogenic) of the variant at chromosome 8, location 64624547, gene CYP7B1 (cytochrome P450 family 7 subfamily B member 1): what disease(s) if pathogenic? | benign | AGGTGGACCAGGGAATAACTTCAGCAAGGCTGAAGTCTGGTTATAGTTAGGAGGGCTCTGGGAGATATGCAACTAGAGATAGCAAATATATGCAACTCTCTTGAAAGAGCTGAATGCAAAAGAAAAGAAGAAAAGTGGAAAGTAACTAGAGGGGAACCTTAAGCATGGTTATAAGTGATGGTAAGAGCCCAAGAAAGAAAAAAATGAAGATGCATGTGTGAGAGGAATGAATCTAGATGTACCAGTCCAGAGGCGGCAAGAAGAAAGGGTCATGGGGACAGGGAGATGGAGTGTCTTGAACATTCTTTGAAATTGGAGAA... | AGGTGGACCAGGGAATAACTTCAGCAAGGCTGAAGTCTGGTTATAGTTAGGAGGGCTCTGGGAGATATGCAACTAGAGATAGCAAATATATGCAACTCTCTTGAAAGAGCTGAATGCAAAAGAAAAGAAGAAAAGTGGAAAGTAACTAGAGGGGAACCTTAAGCATGGTTATAAGTGATGGTAAGAGCCCAAGAAAGAAAAAAATGAAGATGCATGTGTGAGAGGAATGAATCTAGATGTACCAGTCCAGAGGCGGCAAGAAGAAAGGGTCATGGGGACAGGGAGATGGAGTGTCTTGAACATTCTTTGAAATTGGAGAA... | benign | 135,927 |
Is the chromosome 8, position 66177323 variant in CRH (corticotropin releasing hormone) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AAAGCTGTCTACTTTCTCTTTTATTCACTGTGGCACCAATCTGGTAAATTGTAGAACAATTGCATGTGTTTAAATATATATACAAACATATCACACATTAAATATATATATATTTAAATCATGCTTTGTTAATATTTGTCCCACCATAATGCCTCCTTCAGAACATAAGTGTAACTTTATATGAACTCTTAAATAAATGATGTTTTTAAAAGCTTCGTCTTATAATGATTTATTCAATGTTCTGTATTATCTTATTCATCCATTAGTTAAGTGTATTTCAAGGGTCCCAGGATAAGATGCATCTTCATACAGACAAATTA... | AAAGCTGTCTACTTTCTCTTTTATTCACTGTGGCACCAATCTGGTAAATTGTAGAACAATTGCATGTGTTTAAATATATATACAAACATATCACACATTAAATATATATATATTTAAATCATGCTTTGTTAATATTTGTCCCACCATAATGCCTCCTTCAGAACATAAGTGTAACTTTATATGAACTCTTAAATAAATGATGTTTTTAAAAGCTTCGTCTTATAATGATTTATTCAATGTTCTGTATTATCTTATTCATCCATTAGTTAAGTGTATTTCAAGGGTCCCAGGATAAGATGCATCTTCATACAGACAAATTA... | benign | 135,939 |
Does the variant on chromosome 8 at location 67074229 affecting gene CSPP1 (centrosome and spindle pole associated protein 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TGCTCAGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGCTGCAGTGAGATTGCGCTACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGATTTTTTTTAGATAGGACACAAAAAGTACAAACAAATTTAAAAATTGATAAATTGGACTTGATAAAAATTATAAACTTTCACTGTTAAAAATATATCAAGAAAACTTACAAACCACAGATTGGCAGAAAATATTTTTACAAAGCAAGTTTTGTAAAATATTGCTTTGTAAAAATAAAGCAAGTTTAATAAATGACTTTTA... | TGCTCAGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGCTGCAGTGAGATTGCGCTACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGATTTTTTTTAGATAGGACACAAAAAGTACAAACAAATTTAAAAATTGATAAATTGGACTTGATAAAAATTATAAACTTTCACTGTTAAAAATATATCAAGAAAACTTACAAACCACAGATTGGCAGAAAATATTTTTACAAAGCAAGTTTTGTAAAATATTGCTTTGTAAAAATAAAGCAAGTTTAATAAATGACTTTTA... | benign | 135,960 |
Determine if the mutation at chromosome 8, position 67076513 in gene CSPP1 (centrosome and spindle pole associated protein 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'Joubert_syndrome_21'] | TGCTGTCATTCTAGGAGCCTGACTCCAGACAAGATTGCAGTAATTTTGAATGCAGTTTTTCTTTTGTGGTGGTTTATATCTCACAGTGTTTCTCTTATCTCTTGTTGAAGAATTATTTGGTTATAAAATGATTATGAGACCAGTTCTATTACAAAGAACTTCCACAACATAAACAGAATAGTTGTAAAAGCAAGTTTATAGTCTATGTGAAAAAATTCAATTTAATTAGTTTAAAAAGTTTTTTTGAAATCTGAAAAAGTGAATTTATTAATTTATTTTGTACTATTTGTGTTTCTTAATATAAATTTCTTAAAATAATT... | TGCTGTCATTCTAGGAGCCTGACTCCAGACAAGATTGCAGTAATTTTGAATGCAGTTTTTCTTTTGTGGTGGTTTATATCTCACAGTGTTTCTCTTATCTCTTGTTGAAGAATTATTTGGTTATAAAATGATTATGAGACCAGTTCTATTACAAAGAACTTCCACAACATAAACAGAATAGTTGTAAAAGCAAGTTTATAGTCTATGTGAAAAAATTCAATTTAATTAGTTTAAAAAGTTTTTTTGAAATCTGAAAAAGTGAATTTATTAATTTATTTTGTACTATTTGTGTTTCTTAATATAAATTTCTTAAAATAATT... | pathogenic | 135,965 |
A genetic variant at chromosome 8, position 67086060, affecting gene CSPP1 (centrosome and spindle pole associated protein 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Joubert_syndrome_21'] | ATTGAATAGCGCATGGGCCTTGCCTTCATAGATTTTATAGTTTAGTTTTATATATGATGTTCCATTCTGAACATGAGAATCAAAACTTTCTCTCCTTAGGCTTAAATTCTGTATCTTTAAAAAAAGGTTTAGATTCCTTCAAAAGGAAACAGTTCCTTTCTAGGATGATTTAAAATTCCAAGCATATGGAATGCTTTAGTTTCTTTTGGAAGAGAGTTAGAAGCATGTGTAAGAGGTGTCCCTAAGGAATCCTCTGTTATACCCTCTATCATCAAGGAGTTAAATAGGCCAGAAATGTTTATCAAGAGAATTCCAGTGTT... | ATTGAATAGCGCATGGGCCTTGCCTTCATAGATTTTATAGTTTAGTTTTATATATGATGTTCCATTCTGAACATGAGAATCAAAACTTTCTCTCCTTAGGCTTAAATTCTGTATCTTTAAAAAAAGGTTTAGATTCCTTCAAAAGGAAACAGTTCCTTTCTAGGATGATTTAAAATTCCAAGCATATGGAATGCTTTAGTTTCTTTTGGAAGAGAGTTAGAAGCATGTGTAAGAGGTGTCCCTAAGGAATCCTCTGTTATACCCTCTATCATCAAGGAGTTAAATAGGCCAGAAATGTTTATCAAGAGAATTCCAGTGTT... | pathogenic | 135,966 |
Gene CSPP1 (centrosome and spindle pole associated protein 1) variant at chromosome 8, position 67093587—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Joubert_syndrome_21'] | AATCAATAGACGTATATATTGCACATGAAAATTAAGGCCTGATTTTCCCTTTCAGGGAGTTGTTGATTGGAAGAAAATTCTCTTTTTTCCAAATGCTTTTGGTATGGTCTATATAGATTTGTAGTTTCTGTCTTCATTCCATTTCATTCATTTGCTCTGCATAATATAATACTAGTTTAGAATATAGAATGCAAAGACACATTTATGCAACATATTTTATAAAGGCAATTAGGTAATATATTTTTTTAATGTGTATATATACAGAAAAATTTTCTATCTACGAGTGAAACAGATCCATCTACTTTGGGAGTTTCTCTTCC... | AATCAATAGACGTATATATTGCACATGAAAATTAAGGCCTGATTTTCCCTTTCAGGGAGTTGTTGATTGGAAGAAAATTCTCTTTTTTCCAAATGCTTTTGGTATGGTCTATATAGATTTGTAGTTTCTGTCTTCATTCCATTTCATTCATTTGCTCTGCATAATATAATACTAGTTTAGAATATAGAATGCAAAGACACATTTATGCAACATATTTTATAAAGGCAATTAGGTAATATATTTTTTTAATGTGTATATATACAGAAAAATTTTCTATCTACGAGTGAAACAGATCCATCTACTTTGGGAGTTTCTCTTCC... | pathogenic | 135,968 |
Regarding the variant at chromosome 8 and position 67095626, affecting gene CSPP1 (centrosome and spindle pole associated protein 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Joubert_syndrome_21'] | TCAGTTTCTCAGGGGTAAGGAAGAATCCAGTGAAAAGTTCAGGCAGGTGGAAAAGAGTACTGAGGTAGGTTTTGCTTTTGAATTAAATCTGTACTACTACTACCACAGGTTGAATATTTTGTACTTGAAAAGCTTTTTCTATTTTAGACATTTTACTTTTTTTTGTAAATACTTGCAAAATTAAGCCAAATTAAACCAAACACAGGACATTTAAATATTTAGTTTTGGAAGTTATTTTATCTCATATTGAAGAACTTTTAACATTTAATTGGGGAGATTTAATTTTAGAGATCAGTTTTGTTAAGTGATTTTCATTTATT... | TCAGTTTCTCAGGGGTAAGGAAGAATCCAGTGAAAAGTTCAGGCAGGTGGAAAAGAGTACTGAGGTAGGTTTTGCTTTTGAATTAAATCTGTACTACTACTACCACAGGTTGAATATTTTGTACTTGAAAAGCTTTTTCTATTTTAGACATTTTACTTTTTTTTGTAAATACTTGCAAAATTAAGCCAAATTAAACCAAACACAGGACATTTAAATATTTAGTTTTGGAAGTTATTTTATCTCATATTGAAGAACTTTTAACATTTAATTGGGGAGATTTAATTTTAGAGATCAGTTTTGTTAAGTGATTTTCATTTATT... | pathogenic | 135,975 |
A genetic variant at chromosome 8, position 67105891, affecting gene CSPP1 (centrosome and spindle pole associated protein 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | AAAAAAAAAAAAAAAAAAAAATTGGAAATGTTCCTGTGGTGTGAATTTTTCTTTCAAAAGTTTATTTTTGATTTTCAGTTTATCAAGTAGATAGCTTTTATGCCTACTTTGTAAAATTAGTGCTCATATATTTCTGTCATGTTGAAAGGAAATTGTATGTATTTTATATTTATGTTCTCTTTCTACTTACAGTTTTTTATCATTTTGGTGGCATTCCTGTGTCGTACATAAGGATAAATGATTTTGAATCTATAGTATACAGTGAAGATAATGTCATATGTCAAGAAAGATGTCTATTTTTTTCTAAGAAAAGTAATATA... | AAAAAAAAAAAAAAAAAAAAATTGGAAATGTTCCTGTGGTGTGAATTTTTCTTTCAAAAGTTTATTTTTGATTTTCAGTTTATCAAGTAGATAGCTTTTATGCCTACTTTGTAAAATTAGTGCTCATATATTTCTGTCATGTTGAAAGGAAATTGTATGTATTTTATATTTATGTTCTCTTTCTACTTACAGTTTTTTATCATTTTGGTGGCATTCCTGTGTCGTACATAAGGATAAATGATTTTGAATCTATAGTATACAGTGAAGATAATGTCATATGTCAAGAAAGATGTCTATTTTTTTCTAAGAAAAGTAATATA... | benign | 135,981 |
Clinical significance of chromosome 8, position 67132067, gene CSPP1 (centrosome and spindle pole associated protein 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Joubert_syndrome_21'] | GTGGATTTTTTTCAGCCAACTTCAATAGAAAGTACAATATTTGTGGGATGTGAAACCCATGTATGTGGAGGGCCTACTTTTCTTATGTGGGAGTTCCATGGGGCTCACTTTGGGACTTGAGTATACTCTGATTTTGGTATAGGCAGAGAGTCCTGGAAACAATCCCTCAGATATACCACGGGATGACTATACTTAATACCCCAATTATTTCCTCCCTTTCATCCTGATCTGACTACATAAATCCTTAAACCCCCTTTTTGGGGGAGTCAGGGAGGAGTTGATAGGTAAAGGTTAAGAATTTGGGTCTGTGAGTATGTGGG... | GTGGATTTTTTTCAGCCAACTTCAATAGAAAGTACAATATTTGTGGGATGTGAAACCCATGTATGTGGAGGGCCTACTTTTCTTATGTGGGAGTTCCATGGGGCTCACTTTGGGACTTGAGTATACTCTGATTTTGGTATAGGCAGAGAGTCCTGGAAACAATCCCTCAGATATACCACGGGATGACTATACTTAATACCCCAATTATTTCCTCCCTTTCATCCTGATCTGACTACATAAATCCTTAAACCCCCTTTTTGGGGGAGTCAGGGAGGAGTTGATAGGTAAAGGTTAAGAATTTGGGTCTGTGAGTATGTGGG... | pathogenic | 135,996 |
Gene CSPP1 (centrosome and spindle pole associated protein 1) variant at chromosome position 67137467 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Joubert_syndrome_21'] | CCCAAAGTTTTGGGATTACAGGTGTGAGCCCAGCCCATGTTGTACTTTTATGTTATAGAGATGGCAGCTTTCCCTCAACTTCATGAACCAACCTCTGCTAACTTGCAAGTTTTCTTCTGCAGCTTCCTCACTTCTCTCAGCCTTCATAGAATTGAAGAAAGTTAGGGCCTTGCTCTGGTTTAGGCTTTGGCTTAAGGGAATGCTGGGCTGGTTTGATCTTCTATTTAGACCACTAAAACTTTCTCTATAACAGCAATAAGGCTGTTTCACTTTCTTATCATTCATATGTTTACTGGAGTGGCACTTTTAATTTTCTTCAA... | CCCAAAGTTTTGGGATTACAGGTGTGAGCCCAGCCCATGTTGTACTTTTATGTTATAGAGATGGCAGCTTTCCCTCAACTTCATGAACCAACCTCTGCTAACTTGCAAGTTTTCTTCTGCAGCTTCCTCACTTCTCTCAGCCTTCATAGAATTGAAGAAAGTTAGGGCCTTGCTCTGGTTTAGGCTTTGGCTTAAGGGAATGCTGGGCTGGTTTGATCTTCTATTTAGACCACTAAAACTTTCTCTATAACAGCAATAAGGCTGTTTCACTTTCTTATCATTCATATGTTTACTGGAGTGGCACTTTTAATTTTCTTCAA... | pathogenic | 135,997 |
Does the chromosome 8 mutation at position 67149947 within gene CSPP1 (centrosome and spindle pole associated protein 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TTTTTCTTTGCCCTCAACCATTTTTATTTTTATTTTTTTTGAGACAGTCTCACTCTGTCACCCAGCCTGAAGTGCAGTGGTGTAATTTTGACTCACTGCAACCTGCACCCCCCCGGCTTAAGTGATCCTCCCACCTCAGCCCCCCAAGTAGCTGGGACTACAGGTACATGCCATCATGCCCAGCTAATTTTTGTATTTTCAGTAGAAATGGGATTTCACCATGTTGCCCAGGATGGTCTTAAACTCCTGAGCTCAAGTAATCCACCCTCTTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACGCCCGGCC... | TTTTTCTTTGCCCTCAACCATTTTTATTTTTATTTTTTTTGAGACAGTCTCACTCTGTCACCCAGCCTGAAGTGCAGTGGTGTAATTTTGACTCACTGCAACCTGCACCCCCCCGGCTTAAGTGATCCTCCCACCTCAGCCCCCCAAGTAGCTGGGACTACAGGTACATGCCATCATGCCCAGCTAATTTTTGTATTTTCAGTAGAAATGGGATTTCACCATGTTGCCCAGGATGGTCTTAAACTCCTGAGCTCAAGTAATCCACCCTCTTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACGCCCGGCC... | benign | 136,000 |
The chromosome 8, position 67149947 genetic variant in gene CSPP1 (centrosome and spindle pole associated protein 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TTTTTCTTTGCCCTCAACCATTTTTATTTTTATTTTTTTTGAGACAGTCTCACTCTGTCACCCAGCCTGAAGTGCAGTGGTGTAATTTTGACTCACTGCAACCTGCACCCCCCCGGCTTAAGTGATCCTCCCACCTCAGCCCCCCAAGTAGCTGGGACTACAGGTACATGCCATCATGCCCAGCTAATTTTTGTATTTTCAGTAGAAATGGGATTTCACCATGTTGCCCAGGATGGTCTTAAACTCCTGAGCTCAAGTAATCCACCCTCTTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACGCCCGGCC... | TTTTTCTTTGCCCTCAACCATTTTTATTTTTATTTTTTTTGAGACAGTCTCACTCTGTCACCCAGCCTGAAGTGCAGTGGTGTAATTTTGACTCACTGCAACCTGCACCCCCCCGGCTTAAGTGATCCTCCCACCTCAGCCCCCCAAGTAGCTGGGACTACAGGTACATGCCATCATGCCCAGCTAATTTTTGTATTTTCAGTAGAAATGGGATTTCACCATGTTGCCCAGGATGGTCTTAAACTCCTGAGCTCAAGTAATCCACCCTCTTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACGCCCGGCC... | benign | 136,001 |
The mutation impacting CSPP1 (centrosome and spindle pole associated protein 1) on chromosome 8 at position 67149947: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTTTTCTTTGCCCTCAACCATTTTTATTTTTATTTTTTTTGAGACAGTCTCACTCTGTCACCCAGCCTGAAGTGCAGTGGTGTAATTTTGACTCACTGCAACCTGCACCCCCCCGGCTTAAGTGATCCTCCCACCTCAGCCCCCCAAGTAGCTGGGACTACAGGTACATGCCATCATGCCCAGCTAATTTTTGTATTTTCAGTAGAAATGGGATTTCACCATGTTGCCCAGGATGGTCTTAAACTCCTGAGCTCAAGTAATCCACCCTCTTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACGCCCGGCC... | TTTTTCTTTGCCCTCAACCATTTTTATTTTTATTTTTTTTGAGACAGTCTCACTCTGTCACCCAGCCTGAAGTGCAGTGGTGTAATTTTGACTCACTGCAACCTGCACCCCCCCGGCTTAAGTGATCCTCCCACCTCAGCCCCCCAAGTAGCTGGGACTACAGGTACATGCCATCATGCCCAGCTAATTTTTGTATTTTCAGTAGAAATGGGATTTCACCATGTTGCCCAGGATGGTCTTAAACTCCTGAGCTCAAGTAATCCACCCTCTTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACGCCCGGCC... | benign | 136,002 |
Variant in gene CSPP1 (centrosome and spindle pole associated protein 1), located at chromosome 8 position 67158462: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Joubert_syndrome_21'] | CTATTTTAGTTTCAACCTTCAGTTCTTCCACCCTGTCAACCCTCAATTTATCTGTGAATGGATTGCTTTCAGATGATGATTTTTTAATTTTTCTTTCAGCAGCCTCTTCAAAATCTCTTCTCCCACCTCAAACAAAACCTAATATGTAATTCTAAGAAAATGTAAAATAGATCAATGGTATTTATTATTACTGTCAACAATATAATGTCAGATAAAAAGTATCCAAAACTTTTGTTAAAAAAAATATTATGAAATGTTCAAATCTGTGCACAAAGATGGTAAGAAATTAGCCTGAGGTCTGTACAAGTAAGTTCCACAGT... | CTATTTTAGTTTCAACCTTCAGTTCTTCCACCCTGTCAACCCTCAATTTATCTGTGAATGGATTGCTTTCAGATGATGATTTTTTAATTTTTCTTTCAGCAGCCTCTTCAAAATCTCTTCTCCCACCTCAAACAAAACCTAATATGTAATTCTAAGAAAATGTAAAATAGATCAATGGTATTTATTATTACTGTCAACAATATAATGTCAGATAAAAAGTATCCAAAACTTTTGTTAAAAAAAATATTATGAAATGTTCAAATCTGTGCACAAAGATGGTAAGAAATTAGCCTGAGGTCTGTACAAGTAAGTTCCACAGT... | pathogenic | 136,006 |
Assess the variant on chromosome 8, position 67158462, impacting CSPP1 (centrosome and spindle pole associated protein 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['CSPP1-related_disorder', 'Joubert_syndrome_21', 'Meckel-Gruber_syndrome'] | CTATTTTAGTTTCAACCTTCAGTTCTTCCACCCTGTCAACCCTCAATTTATCTGTGAATGGATTGCTTTCAGATGATGATTTTTTAATTTTTCTTTCAGCAGCCTCTTCAAAATCTCTTCTCCCACCTCAAACAAAACCTAATATGTAATTCTAAGAAAATGTAAAATAGATCAATGGTATTTATTATTACTGTCAACAATATAATGTCAGATAAAAAGTATCCAAAACTTTTGTTAAAAAAAATATTATGAAATGTTCAAATCTGTGCACAAAGATGGTAAGAAATTAGCCTGAGGTCTGTACAAGTAAGTTCCACAGT... | CTATTTTAGTTTCAACCTTCAGTTCTTCCACCCTGTCAACCCTCAATTTATCTGTGAATGGATTGCTTTCAGATGATGATTTTTTAATTTTTCTTTCAGCAGCCTCTTCAAAATCTCTTCTCCCACCTCAAACAAAACCTAATATGTAATTCTAAGAAAATGTAAAATAGATCAATGGTATTTATTATTACTGTCAACAATATAATGTCAGATAAAAAGTATCCAAAACTTTTGTTAAAAAAAATATTATGAAATGTTCAAATCTGTGCACAAAGATGGTAAGAAATTAGCCTGAGGTCTGTACAAGTAAGTTCCACAGT... | pathogenic | 136,007 |
Clinical impact (benign or pathogenic) of the variant at chromosome 8, location 67158584, gene CSPP1 (centrosome and spindle pole associated protein 1): what disease(s) if pathogenic? | pathogenic; ['Joubert_syndrome_21'] | CCACCTCAAACAAAACCTAATATGTAATTCTAAGAAAATGTAAAATAGATCAATGGTATTTATTATTACTGTCAACAATATAATGTCAGATAAAAAGTATCCAAAACTTTTGTTAAAAAAAATATTATGAAATGTTCAAATCTGTGCACAAAGATGGTAAGAAATTAGCCTGAGGTCTGTACAAGTAAGTTCCACAGTTAGCTCAAGTTAATGCATCAGAAGTCTTCATGCTGTTAAAATTTGGTGAATATTAATAACACTTGTGAATGTTTGACATTTTTAACCACAGCTTTAAAAATAGTTAACAAATAAAATATTTT... | CCACCTCAAACAAAACCTAATATGTAATTCTAAGAAAATGTAAAATAGATCAATGGTATTTATTATTACTGTCAACAATATAATGTCAGATAAAAAGTATCCAAAACTTTTGTTAAAAAAAATATTATGAAATGTTCAAATCTGTGCACAAAGATGGTAAGAAATTAGCCTGAGGTCTGTACAAGTAAGTTCCACAGTTAGCTCAAGTTAATGCATCAGAAGTCTTCATGCTGTTAAAATTTGGTGAATATTAATAACACTTGTGAATGTTTGACATTTTTAACCACAGCTTTAAAAATAGTTAACAAATAAAATATTTT... | pathogenic | 136,011 |
A genetic variant at chromosome 8, position 67158977, affecting gene CSPP1 (centrosome and spindle pole associated protein 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GACCAGAAACCTGTTGAACAACTGTCTAGCATTCCTGTTGGCACTGAGCTTTGGATCCATTAGGTGTATGATCCATTAATAGCTTAAAAATTGGTATTCTTTGATTTTGATGGAAAAGTGACCCCTGTGAATGTGATTTTTTTTTCCATGGAGTAGGAAGAAGGGGGAATTGAGTATTGAATATGAAATTTTGATGAATTATAAATGATGTTTTCTTTAGGCATATTGGACTTGAAGAAGTGATTGCATGCAAATTGCTAACTAAAAGTACTAAATATTAGGCTTATGCATATTTAATAATGTTGTGAGAAAGAAGTGTT... | GACCAGAAACCTGTTGAACAACTGTCTAGCATTCCTGTTGGCACTGAGCTTTGGATCCATTAGGTGTATGATCCATTAATAGCTTAAAAATTGGTATTCTTTGATTTTGATGGAAAAGTGACCCCTGTGAATGTGATTTTTTTTTCCATGGAGTAGGAAGAAGGGGGAATTGAGTATTGAATATGAAATTTTGATGAATTATAAATGATGTTTTCTTTAGGCATATTGGACTTGAAGAAGTGATTGCATGCAAATTGCTAACTAAAAGTACTAAATATTAGGCTTATGCATATTTAATAATGTTGTGAGAAAGAAGTGTT... | benign | 136,013 |
Considering the variant on chromosome 8, location 67159046, involving gene CSPP1 (centrosome and spindle pole associated protein 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Joubert_syndrome_21'] | GATCCATTAATAGCTTAAAAATTGGTATTCTTTGATTTTGATGGAAAAGTGACCCCTGTGAATGTGATTTTTTTTTCCATGGAGTAGGAAGAAGGGGGAATTGAGTATTGAATATGAAATTTTGATGAATTATAAATGATGTTTTCTTTAGGCATATTGGACTTGAAGAAGTGATTGCATGCAAATTGCTAACTAAAAGTACTAAATATTAGGCTTATGCATATTTAATAATGTTGTGAGAAAGAAGTGTTGGAAAAAGCCCTAGTATATAAAATCATAGGATGTGTTAGAAGATTAAAGTTCTTTTTTTTTTTTAAAGA... | GATCCATTAATAGCTTAAAAATTGGTATTCTTTGATTTTGATGGAAAAGTGACCCCTGTGAATGTGATTTTTTTTTCCATGGAGTAGGAAGAAGGGGGAATTGAGTATTGAATATGAAATTTTGATGAATTATAAATGATGTTTTCTTTAGGCATATTGGACTTGAAGAAGTGATTGCATGCAAATTGCTAACTAAAAGTACTAAATATTAGGCTTATGCATATTTAATAATGTTGTGAGAAAGAAGTGTTGGAAAAAGCCCTAGTATATAAAATCATAGGATGTGTTAGAAGATTAAAGTTCTTTTTTTTTTTTAAAGA... | pathogenic | 136,015 |
Chromosome 8, position 67159116, gene CSPP1 (centrosome and spindle pole associated protein 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Joubert_syndrome_21'] | TTTTTTCCATGGAGTAGGAAGAAGGGGGAATTGAGTATTGAATATGAAATTTTGATGAATTATAAATGATGTTTTCTTTAGGCATATTGGACTTGAAGAAGTGATTGCATGCAAATTGCTAACTAAAAGTACTAAATATTAGGCTTATGCATATTTAATAATGTTGTGAGAAAGAAGTGTTGGAAAAAGCCCTAGTATATAAAATCATAGGATGTGTTAGAAGATTAAAGTTCTTTTTTTTTTTTAAAGACAGAGTCTCATTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCC... | TTTTTTCCATGGAGTAGGAAGAAGGGGGAATTGAGTATTGAATATGAAATTTTGATGAATTATAAATGATGTTTTCTTTAGGCATATTGGACTTGAAGAAGTGATTGCATGCAAATTGCTAACTAAAAGTACTAAATATTAGGCTTATGCATATTTAATAATGTTGTGAGAAAGAAGTGTTGGAAAAAGCCCTAGTATATAAAATCATAGGATGTGTTAGAAGATTAAAGTTCTTTTTTTTTTTTAAAGACAGAGTCTCATTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCC... | pathogenic | 136,016 |
A genetic alteration at chromosome 8, position 67159122, in gene CSPP1 (centrosome and spindle pole associated protein 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Joubert_syndrome_21'] | CCATGGAGTAGGAAGAAGGGGGAATTGAGTATTGAATATGAAATTTTGATGAATTATAAATGATGTTTTCTTTAGGCATATTGGACTTGAAGAAGTGATTGCATGCAAATTGCTAACTAAAAGTACTAAATATTAGGCTTATGCATATTTAATAATGTTGTGAGAAAGAAGTGTTGGAAAAAGCCCTAGTATATAAAATCATAGGATGTGTTAGAAGATTAAAGTTCTTTTTTTTTTTTAAAGACAGAGTCTCATTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTT... | CCATGGAGTAGGAAGAAGGGGGAATTGAGTATTGAATATGAAATTTTGATGAATTATAAATGATGTTTTCTTTAGGCATATTGGACTTGAAGAAGTGATTGCATGCAAATTGCTAACTAAAAGTACTAAATATTAGGCTTATGCATATTTAATAATGTTGTGAGAAAGAAGTGTTGGAAAAAGCCCTAGTATATAAAATCATAGGATGTGTTAGAAGATTAAAGTTCTTTTTTTTTTTTAAAGACAGAGTCTCATTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTT... | pathogenic | 136,017 |
Is the variant located on chromosome 8 at position 67161813, gene CSPP1 (centrosome and spindle pole associated protein 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Joubert_syndrome_21'] | ACCCACCTCTGCCTCCCAGAGTGCTGAGATTACAGGAGTGAGCCACCACGCCCGGCCTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTCTTTTTCTTTTTCTTTCTTTTTGTTTTAAGAGACCAGGTCTTGCTATG... | ACCCACCTCTGCCTCCCAGAGTGCTGAGATTACAGGAGTGAGCCACCACGCCCGGCCTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTCTTTTTCTTTTTCTTTCTTTTTGTTTTAAGAGACCAGGTCTTGCTATG... | pathogenic | 136,020 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 8, position 67164395, gene CSPP1 (centrosome and spindle pole associated protein 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['CSPP1-related_disorder', 'Joubert_syndrome_21'] | GTGTGGTCTGGCCTGATGATGCTTGTGCATTAAGGCAGCAGAGGAGGTGGAGGTCAGAACATGTGTGGCATGCTGTACGGAGTGCTAAGAGCTTTGATTTTGTTCCATAGGCTGGTAGATTCCAGACAGGCTAATTAGCAGAAGGTAAAGAAATGTGTCAGAAGAACATGTTTCTGAATTCCACCCTTTGAGATTCTGATTTAGTAGGTCTGTGGTAGATAATGCATAGGAATTCATTGTAATATTTAAGTAGGGGAATGACATGGCCACTTTTGTATAATGTTTTTTTAGGCAATGGTGTGGAGATAAGTTTTGGAGGT... | GTGTGGTCTGGCCTGATGATGCTTGTGCATTAAGGCAGCAGAGGAGGTGGAGGTCAGAACATGTGTGGCATGCTGTACGGAGTGCTAAGAGCTTTGATTTTGTTCCATAGGCTGGTAGATTCCAGACAGGCTAATTAGCAGAAGGTAAAGAAATGTGTCAGAAGAACATGTTTCTGAATTCCACCCTTTGAGATTCTGATTTAGTAGGTCTGTGGTAGATAATGCATAGGAATTCATTGTAATATTTAAGTAGGGGAATGACATGGCCACTTTTGTATAATGTTTTTTTAGGCAATGGTGTGGAGATAAGTTTTGGAGGT... | pathogenic | 136,024 |
Variant at chromosome position 67190655, chromosome 8, gene CSPP1: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Joubert_syndrome_21'] | CTCTTCTGGTCCATGTTTGTTACGGCTCGAGCTGAGCTTTCGCTTGCTGTCCACCAGTGCTGTTTGCCGCCGTTGCAGACCTGCCACTGACTTCCACCCCTCCGGATCTGGCAGGATGTCCTCTACACTTCTGATCCAGCGGGGTGGCACCCACTGCTGCTCCCAATCAGGCTAAAGGCTTGCCATTGTTCCTGCACGGCTAAGTGCCCGGGTTTGTCCTAATCGAGCTGAACACTAGTCACTGGGTTCCACGGTTCTCTTCTGTGACCCACGGCTTCTAATAGAGCTTTAACATTCACCGCATGGCCCAAGATTCCATT... | CTCTTCTGGTCCATGTTTGTTACGGCTCGAGCTGAGCTTTCGCTTGCTGTCCACCAGTGCTGTTTGCCGCCGTTGCAGACCTGCCACTGACTTCCACCCCTCCGGATCTGGCAGGATGTCCTCTACACTTCTGATCCAGCGGGGTGGCACCCACTGCTGCTCCCAATCAGGCTAAAGGCTTGCCATTGTTCCTGCACGGCTAAGTGCCCGGGTTTGTCCTAATCGAGCTGAACACTAGTCACTGGGTTCCACGGTTCTCTTCTGTGACCCACGGCTTCTAATAGAGCTTTAACATTCACCGCATGGCCCAAGATTCCATT... | pathogenic | 136,039 |
Chromosome 8, position 67216620, gene ARFGEF1 (ARF guanine nucleotide exchange factor 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Developmental_delay,_impaired_speech,_and_behavioral_abnormalities,_with_or_without_seizures'] | AAGGCTATAATAGCTGGACAACTTTTTGCCAAAGAGATTAGGTATATATCTAGTGGAGCCAATCGATCATCTCAGCAGAAGCCAGGAACATAACAGGACTATCCAGAAAGATGTGTGGATCACACTCTTGTTTAATGGCATGGTTTCTCTTAACACATACAGAAGACCCACAAGGATTTTGAGAATGATATACCAGCAGACATATGGCCAGCCTAGAATGAAAGGGACAGAAACAATAAGAGGAAGGGAGGCTGAATTCTAGGATTCTACAGGCAGAAAATGGGTCAACAGAGCTACAAACGTGCTAACCTTTAAGAAAA... | AAGGCTATAATAGCTGGACAACTTTTTGCCAAAGAGATTAGGTATATATCTAGTGGAGCCAATCGATCATCTCAGCAGAAGCCAGGAACATAACAGGACTATCCAGAAAGATGTGTGGATCACACTCTTGTTTAATGGCATGGTTTCTCTTAACACATACAGAAGACCCACAAGGATTTTGAGAATGATATACCAGCAGACATATGGCCAGCCTAGAATGAAAGGGACAGAAACAATAAGAGGAAGGGAGGCTGAATTCTAGGATTCTACAGGCAGAAAATGGGTCAACAGAGCTACAAACGTGCTAACCTTTAAGAAAA... | pathogenic | 136,053 |
Mutation found at chromosome 8 position 71215495, gene EYA1 (EYA transcriptional coactivator and phosphatase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Branchiootic_syndrome_1', 'Branchiootorenal_syndrome_1', 'Melnick-Fraser_syndrome', 'Otofaciocervical_syndrome_1'] | TGATATAGATGAAAATAGAATTAACATGTGACTTAAACTGTTTGCTATTTTTATGGAACATGAAAGCACATAAAAGTTCTGGTTATAATGGGCTACTAGGAATTTTACTCTATTTGATATATTTCTTGCTTTTTGATATTTTCCAACAATTTGTTCTTGGCCCTTCTTGGGAAGCATCAGTCATTCTCAAACTCCAGATATGTATTTCTAACTTGAAAGGTTAGCCTGGATGAATCCCATCAGCACCCTGCTGACTGTGTCTTTCTGCCATTGATTGAAGACCCCACTGGGTCTCTTCCAATGCAACACTGATAAAAATA... | TGATATAGATGAAAATAGAATTAACATGTGACTTAAACTGTTTGCTATTTTTATGGAACATGAAAGCACATAAAAGTTCTGGTTATAATGGGCTACTAGGAATTTTACTCTATTTGATATATTTCTTGCTTTTTGATATTTTCCAACAATTTGTTCTTGGCCCTTCTTGGGAAGCATCAGTCATTCTCAAACTCCAGATATGTATTTCTAACTTGAAAGGTTAGCCTGGATGAATCCCATCAGCACCCTGCTGACTGTGTCTTTCTGCCATTGATTGAAGACCCCACTGGGTCTCTTCCAATGCAACACTGATAAAAATA... | pathogenic | 136,162 |
Mutation at chromosome 8, position 73976309, within TMEM70 (transmembrane protein 70): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Mitochondrial_complex_V_(ATP_synthase)_deficiency_nuclear_type_2'] | AGTCCCAGGTACTTGGGAGGCTGAAGTGAGAGGAACACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCTATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGTCTCAAAAACAAAATAAAAGGTGGGCACAGTGGCTCACCCTTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGGATAGCTTGAGCCTCAGGAGTTTGAGACCAACCTGGGCTATATGGTGAAACTCCATCTCTACTATTAAAACAAATATTAAAATAAAAATAAACAAAATGTAAGTAGAAGCTAACTTTTTATAAAATA... | AGTCCCAGGTACTTGGGAGGCTGAAGTGAGAGGAACACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCTATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGTCTCAAAAACAAAATAAAAGGTGGGCACAGTGGCTCACCCTTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGGATAGCTTGAGCCTCAGGAGTTTGAGACCAACCTGGGCTATATGGTGAAACTCCATCTCTACTATTAAAACAAATATTAAAATAAAAATAAACAAAATGTAAGTAGAAGCTAACTTTTTATAAAATA... | pathogenic | 136,271 |
Does the chromosome 8 mutation at position 73976385 within gene TMEM70 (transmembrane protein 70) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Mitochondrial_complex_V_(ATP_synthase)_deficiency_nuclear_type_2'] | GTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGTCTCAAAAACAAAATAAAAGGTGGGCACAGTGGCTCACCCTTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGGATAGCTTGAGCCTCAGGAGTTTGAGACCAACCTGGGCTATATGGTGAAACTCCATCTCTACTATTAAAACAAATATTAAAATAAAAATAAACAAAATGTAAGTAGAAGCTAACTTTTTATAAAATAAAGTTATCCATATAGAGGTATTATCATTATCTCCTTCTGAATACTCCCCCCAATAGACAGTATTTGGAGTTGCCAA... | GTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGTCTCAAAAACAAAATAAAAGGTGGGCACAGTGGCTCACCCTTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGGATAGCTTGAGCCTCAGGAGTTTGAGACCAACCTGGGCTATATGGTGAAACTCCATCTCTACTATTAAAACAAATATTAAAATAAAAATAAACAAAATGTAAGTAGAAGCTAACTTTTTATAAAATAAAGTTATCCATATAGAGGTATTATCATTATCTCCTTCTGAATACTCCCCCCAATAGACAGTATTTGGAGTTGCCAA... | pathogenic | 136,274 |
Variant at chromosome 8, position 73976397, gene TMEM70 (transmembrane protein 70): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Mitochondrial_complex_V_(ATP_synthase)_deficiency_nuclear_type_2', 'Mitochondrial_proton-transporting_ATP_synthase_complex_deficiency'] | TCCAGCCTGGGCGACAGAGCAAGACCCTGTCTCAAAAACAAAATAAAAGGTGGGCACAGTGGCTCACCCTTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGGATAGCTTGAGCCTCAGGAGTTTGAGACCAACCTGGGCTATATGGTGAAACTCCATCTCTACTATTAAAACAAATATTAAAATAAAAATAAACAAAATGTAAGTAGAAGCTAACTTTTTATAAAATAAAGTTATCCATATAGAGGTATTATCATTATCTCCTTCTGAATACTCCCCCCAATAGACAGTATTTGGAGTTGCCAACATGATCATATT... | TCCAGCCTGGGCGACAGAGCAAGACCCTGTCTCAAAAACAAAATAAAAGGTGGGCACAGTGGCTCACCCTTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGGATAGCTTGAGCCTCAGGAGTTTGAGACCAACCTGGGCTATATGGTGAAACTCCATCTCTACTATTAAAACAAATATTAAAATAAAAATAAACAAAATGTAAGTAGAAGCTAACTTTTTATAAAATAAAGTTATCCATATAGAGGTATTATCATTATCTCCTTCTGAATACTCCCCCCAATAGACAGTATTTGGAGTTGCCAACATGATCATATT... | pathogenic | 136,275 |
Benign or pathogenic: chromosome 8, position 73981196, gene TMEM70 (transmembrane protein 70) variant? Disease(s) if pathogenic? | pathogenic; ['Mitochondrial_complex_V_(ATP_synthase)_deficiency_nuclear_type_2'] | CTCAGCCTCCTGCTGGGATTACAGGTATGCACCACCACACTTGGCCAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTCACTTCAAGTAACCCACCCACCTCGGCCTCCCAAAGTATTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTCTATTATGTTTTAATATTTCGAAGGGGTAACTTCCCCTCATTGCTTTATTTTTTTATTTTTTGCTGCTTTTGTTTTTCCAAATAAACTTTATAATCAACTTGTTTAGGATCTCAACTTTATTTTCCAAACAGATGGTA... | CTCAGCCTCCTGCTGGGATTACAGGTATGCACCACCACACTTGGCCAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTCACTTCAAGTAACCCACCCACCTCGGCCTCCCAAAGTATTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTCTATTATGTTTTAATATTTCGAAGGGGTAACTTCCCCTCATTGCTTTATTTTTTTATTTTTTGCTGCTTTTGTTTTTCCAAATAAACTTTATAATCAACTTGTTTAGGATCTCAACTTTATTTTCCAAACAGATGGTA... | pathogenic | 136,284 |
A genetic variant at chromosome 8, position 73981333, affecting gene TMEM70 (transmembrane protein 70)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Mitochondrial_complex_V_(ATP_synthase)_deficiency_nuclear_type_2'] | TCCCAAAGTATTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTCTATTATGTTTTAATATTTCGAAGGGGTAACTTCCCCTCATTGCTTTATTTTTTTATTTTTTGCTGCTTTTGTTTTTCCAAATAAACTTTATAATCAACTTGTTTAGGATCTCAACTTTATTTTCCAAACAGATGGTATTTTTTATTAGGATCGTATTAAAATTATAAATTAAAGGTAAGGTAAATTTACATTTTAAGTCATTTTTTATTGTGGTTAGATAAACATAAAATTTTTCACTTTAATCATTTTGAAGTATACAGTTTAGAAGCCATTT... | TCCCAAAGTATTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTCTATTATGTTTTAATATTTCGAAGGGGTAACTTCCCCTCATTGCTTTATTTTTTTATTTTTTGCTGCTTTTGTTTTTCCAAATAAACTTTATAATCAACTTGTTTAGGATCTCAACTTTATTTTCCAAACAGATGGTATTTTTTATTAGGATCGTATTAAAATTATAAATTAAAGGTAAGGTAAATTTACATTTTAAGTCATTTTTTATTGTGGTTAGATAAACATAAAATTTTTCACTTTAATCATTTTGAAGTATACAGTTTAGAAGCCATTT... | pathogenic | 136,286 |
A genetic variant on chromosome 8, position 73981337, affects the gene TMEM70 (transmembrane protein 70). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Mitochondrial_complex_V_(ATP_synthase)_deficiency_nuclear_type_2'] | AAAGTATTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTCTATTATGTTTTAATATTTCGAAGGGGTAACTTCCCCTCATTGCTTTATTTTTTTATTTTTTGCTGCTTTTGTTTTTCCAAATAAACTTTATAATCAACTTGTTTAGGATCTCAACTTTATTTTCCAAACAGATGGTATTTTTTATTAGGATCGTATTAAAATTATAAATTAAAGGTAAGGTAAATTTACATTTTAAGTCATTTTTTATTGTGGTTAGATAAACATAAAATTTTTCACTTTAATCATTTTGAAGTATACAGTTTAGAAGCCATTTTTTA... | AAAGTATTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTCTATTATGTTTTAATATTTCGAAGGGGTAACTTCCCCTCATTGCTTTATTTTTTTATTTTTTGCTGCTTTTGTTTTTCCAAATAAACTTTATAATCAACTTGTTTAGGATCTCAACTTTATTTTCCAAACAGATGGTATTTTTTATTAGGATCGTATTAAAATTATAAATTAAAGGTAAGGTAAATTTACATTTTAAGTCATTTTTTATTGTGGTTAGATAAACATAAAATTTTTCACTTTAATCATTTTGAAGTATACAGTTTAGAAGCCATTTTTTA... | pathogenic | 136,287 |
Clinical significance of chromosome 8, position 73981414, gene TMEM70 (transmembrane protein 70): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mitochondrial_complex_V_(ATP_synthase)_deficiency_nuclear_type_2'] | CTCATTGCTTTATTTTTTTATTTTTTGCTGCTTTTGTTTTTCCAAATAAACTTTATAATCAACTTGTTTAGGATCTCAACTTTATTTTCCAAACAGATGGTATTTTTTATTAGGATCGTATTAAAATTATAAATTAAAGGTAAGGTAAATTTACATTTTAAGTCATTTTTTATTGTGGTTAGATAAACATAAAATTTTTCACTTTAATCATTTTGAAGTATACAGTTTAGAAGCCATTTTTTAAAAATAATTTTTATTTTTTAGAGACAGGGTCTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGTTCACTGC... | CTCATTGCTTTATTTTTTTATTTTTTGCTGCTTTTGTTTTTCCAAATAAACTTTATAATCAACTTGTTTAGGATCTCAACTTTATTTTCCAAACAGATGGTATTTTTTATTAGGATCGTATTAAAATTATAAATTAAAGGTAAGGTAAATTTACATTTTAAGTCATTTTTTATTGTGGTTAGATAAACATAAAATTTTTCACTTTAATCATTTTGAAGTATACAGTTTAGAAGCCATTTTTTAAAAATAATTTTTATTTTTTAGAGACAGGGTCTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGTTCACTGC... | pathogenic | 136,288 |
Is the chromosome 8, position 74350409 variant in GDAP1 (ganglioside induced differentiation associated protein 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CTGTGCATGTTTACACTCCCAATGAGATCTATGAATGCTTTGTACTAAACACCAAGTAATCAAGTCATTCAGTGTTTCTTCTATGGCTTTGCTGTGGGCAGGATGTGATGGAGAAAAGTGTTGTGTTTGAGGGACCAGGGCTTTATTGTCAGGACTTTTTCAGCTGCAGGTGACACATGGCTTATCACGAGTACTGGAATTTATTCAAATATTTAGGATGATTTAGTATTAAGGTTGGTGCAAAAGTAAGCGTGGTGTTTGCTATTGAAGGTAATGGAATAGAAAACTAGGAATCTGAAGGTGGATAATTAAAAAATGAA... | CTGTGCATGTTTACACTCCCAATGAGATCTATGAATGCTTTGTACTAAACACCAAGTAATCAAGTCATTCAGTGTTTCTTCTATGGCTTTGCTGTGGGCAGGATGTGATGGAGAAAAGTGTTGTGTTTGAGGGACCAGGGCTTTATTGTCAGGACTTTTTCAGCTGCAGGTGACACATGGCTTATCACGAGTACTGGAATTTATTCAAATATTTAGGATGATTTAGTATTAAGGTTGGTGCAAAAGTAAGCGTGGTGTTTGCTATTGAAGGTAATGGAATAGAAAACTAGGAATCTGAAGGTGGATAATTAAAAAATGAA... | benign | 136,313 |
The mutation impacting GDAP1 (ganglioside induced differentiation associated protein 1) on chromosome 8 at position 74361899: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease,_axonal,_with_vocal_cord_paresis,_autosomal_recessive', 'Charcot-Marie-Tooth_disease_axonal_type_2K', 'Charcot-Marie-Tooth_disease_recessive_intermediate_A', 'Charcot-Marie-Tooth_disease_type_4A'] | ATGCTTCATGGAATAAATGGCATAAATAACTGGGCCTTGAGGGCTGAGTGCAGTTTGCAAGGTGAAGAAATGAGAGAATACCAATGTGATTATGGTTTGGGATCTTGTCTGGTGCATCAGGCCATTTCAAACTTTGAATGAATGTCTGAGGTGAGGAGACAGTGTTTTTTGAATATACAGATATGTTGAAAATGTTAATGATGAGTGGATAGTGTTTTTGTTTTGCTTTTGAGTGTAACAACTCATGTGTAACTTTTTCTTCAATATTTGTGTGTGTGTATTTTAGAAAGAACACCCAGGTTAATGCCTGATAAAGAAAG... | ATGCTTCATGGAATAAATGGCATAAATAACTGGGCCTTGAGGGCTGAGTGCAGTTTGCAAGGTGAAGAAATGAGAGAATACCAATGTGATTATGGTTTGGGATCTTGTCTGGTGCATCAGGCCATTTCAAACTTTGAATGAATGTCTGAGGTGAGGAGACAGTGTTTTTTGAATATACAGATATGTTGAAAATGTTAATGATGAGTGGATAGTGTTTTTGTTTTGCTTTTGAGTGTAACAACTCATGTGTAACTTTTTCTTCAATATTTGTGTGTGTGTATTTTAGAAAGAACACCCAGGTTAATGCCTGATAAAGAAAG... | pathogenic | 136,349 |
Gene GDAP1 (ganglioside induced differentiation associated protein 1) variant at chromosome position 74364072 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_recessive_intermediate_A', 'Charcot-Marie-Tooth_disease_type_4A'] | AATGTTCTACTTTTTGTAAAGTACCACTATTTCTAGAATATCTTCTTTTAAATATTGCAGTTCACCAGTACACATGTTACCTTTGGCTTATGTTCTCCTTTTAGAAAGAATTTTTTATTAGACTTGATATTGAAACTTGATGACAAGTGCTTAACAAGCAGATATTGAGCATGCTGGTTGCCAAAAAAGTTATGAAATGCAAAGGAAGTTCATAACATATTCTAGAATCTGTCATTTCAGGTATTCCACCACTGGAAGTCCTCGCTAGACCTACATCCCTCCATGTGTCGCCCTGACTTGCTTTGCCCCCTGAGGAGTGT... | AATGTTCTACTTTTTGTAAAGTACCACTATTTCTAGAATATCTTCTTTTAAATATTGCAGTTCACCAGTACACATGTTACCTTTGGCTTATGTTCTCCTTTTAGAAAGAATTTTTTATTAGACTTGATATTGAAACTTGATGACAAGTGCTTAACAAGCAGATATTGAGCATGCTGGTTGCCAAAAAAGTTATGAAATGCAAAGGAAGTTCATAACATATTCTAGAATCTGTCATTTCAGGTATTCCACCACTGGAAGTCCTCGCTAGACCTACATCCCTCCATGTGTCGCCCTGACTTGCTTTGCCCCCTGAGGAGTGT... | pathogenic | 136,364 |
Does the genetic variant at chromosome 8, position 74364129, impacting gene GDAP1 (ganglioside induced differentiation associated protein 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_axonal_type_2K', 'Charcot-Marie-Tooth_disease_type_4A'] | CAGTTCACCAGTACACATGTTACCTTTGGCTTATGTTCTCCTTTTAGAAAGAATTTTTTATTAGACTTGATATTGAAACTTGATGACAAGTGCTTAACAAGCAGATATTGAGCATGCTGGTTGCCAAAAAAGTTATGAAATGCAAAGGAAGTTCATAACATATTCTAGAATCTGTCATTTCAGGTATTCCACCACTGGAAGTCCTCGCTAGACCTACATCCCTCCATGTGTCGCCCTGACTTGCTTTGCCCCCTGAGGAGTGTGCTTTATGGTCAGCCTTTCTCCTTCTGTTGATTCCTTCCCCGGGCCCAGCAACTATT... | CAGTTCACCAGTACACATGTTACCTTTGGCTTATGTTCTCCTTTTAGAAAGAATTTTTTATTAGACTTGATATTGAAACTTGATGACAAGTGCTTAACAAGCAGATATTGAGCATGCTGGTTGCCAAAAAAGTTATGAAATGCAAAGGAAGTTCATAACATATTCTAGAATCTGTCATTTCAGGTATTCCACCACTGGAAGTCCTCGCTAGACCTACATCCCTCCATGTGTCGCCCTGACTTGCTTTGCCCCCTGAGGAGTGTGCTTTATGGTCAGCCTTTCTCCTTCTGTTGATTCCTTCCCCGGGCCCAGCAACTATT... | pathogenic | 136,366 |
Variant at chromosome 8, position 74364305, gene GDAP1 (ganglioside induced differentiation associated protein 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_axonal_type_2K', 'Charcot-Marie-Tooth_disease_type_4A', 'Inborn_genetic_diseases'] | ATTTCAGGTATTCCACCACTGGAAGTCCTCGCTAGACCTACATCCCTCCATGTGTCGCCCTGACTTGCTTTGCCCCCTGAGGAGTGTGCTTTATGGTCAGCCTTTCTCCTTCTGTTGATTCCTTCCCCGGGCCCAGCAACTATTGCAAGCTTCTCTCATATTAAAAGTGTAGAAAACAGCAGCACTCCCAACCCTCCCCAACTTCCCACCTTCCTTTATCCTATCGTAGCTAAACGAGCTCCTCAGAAGAAACACCTGCACTCACAGTCACTTGACTGACTCTCCACTCGCCGTTTAACTCCTTCACTCGGACTTCTTAC... | ATTTCAGGTATTCCACCACTGGAAGTCCTCGCTAGACCTACATCCCTCCATGTGTCGCCCTGACTTGCTTTGCCCCCTGAGGAGTGTGCTTTATGGTCAGCCTTTCTCCTTCTGTTGATTCCTTCCCCGGGCCCAGCAACTATTGCAAGCTTCTCTCATATTAAAAGTGTAGAAAACAGCAGCACTCCCAACCCTCCCCAACTTCCCACCTTCCTTTATCCTATCGTAGCTAAACGAGCTCCTCAGAAGAAACACCTGCACTCACAGTCACTTGACTGACTCTCCACTCGCCGTTTAACTCCTTCACTCGGACTTCTTAC... | pathogenic | 136,373 |
Is chromosome 8, position 74365855, gene GDAP1 (ganglioside induced differentiation associated protein 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CTTTTTTTTTAAAGCATGAAATTATTCTCTGAGTGTGGCTGTCAAGAAAATAAATATATAATGTCCTTCATCTTTTGCTATACTCACACTCACCCTTAAGGGTGAGACCACTGATACCAGCTGGAGTCTGTCTGTAGAGTGCTTGCCTCTAATTCTCTATGTCCCTTTCTCTAATTAGAAGAGGGCCAGCAACCTTGGCTCTGCGGTGAATCCTTCACCCTGGCAGACGTCTCACTCGCTGTCACATTGCATCGACTGAAGTTCCTGGGGTTTGCAAGGAGAAACTGGGGAAACGGAAAGCGACCAAACTTGGAAACCTA... | CTTTTTTTTTAAAGCATGAAATTATTCTCTGAGTGTGGCTGTCAAGAAAATAAATATATAATGTCCTTCATCTTTTGCTATACTCACACTCACCCTTAAGGGTGAGACCACTGATACCAGCTGGAGTCTGTCTGTAGAGTGCTTGCCTCTAATTCTCTATGTCCCTTTCTCTAATTAGAAGAGGGCCAGCAACCTTGGCTCTGCGGTGAATCCTTCACCCTGGCAGACGTCTCACTCGCTGTCACATTGCATCGACTGAAGTTCCTGGGGTTTGCAAGGAGAAACTGGGGAAACGGAAAGCGACCAAACTTGGAAACCTA... | benign | 136,381 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 8, position 76983340, gene PEX2 (peroxisomal biogenesis factor 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Peroxisome_biogenesis_disorder_5A_(Zellweger)', 'Peroxisome_biogenesis_disorder_5B'] | GAGACCTCATCTCTACAAAAATTAGCCAGGCATGGTGGTATGGGCCTGTGGTCCCAGCAACTTGGGAGGCTCAGATGGGAGGATCGCTTGAGCCCTGGGAGGGAAAGGCTGCGGTTAGCCATGATCACACCACTGCACTCCAACCTGGGTGACTGGGTGAGGCCCTTTCTCACCAAAAACAAACAAACAAACAAAAAACAAAGACGTTTGTATATATTTTTATTTTTTTAGAAACGAACTCAAACTCCTGGGCTCAGCCTCCCTAAGTAGGGAGCCTGGGATTACAGGCATGAGCCATTGTGCTCAGCCCTAAAATAGTT... | GAGACCTCATCTCTACAAAAATTAGCCAGGCATGGTGGTATGGGCCTGTGGTCCCAGCAACTTGGGAGGCTCAGATGGGAGGATCGCTTGAGCCCTGGGAGGGAAAGGCTGCGGTTAGCCATGATCACACCACTGCACTCCAACCTGGGTGACTGGGTGAGGCCCTTTCTCACCAAAAACAAACAAACAAACAAAAAACAAAGACGTTTGTATATATTTTTATTTTTTTAGAAACGAACTCAAACTCCTGGGCTCAGCCTCCCTAAGTAGGGAGCCTGGGATTACAGGCATGAGCCATTGTGCTCAGCCCTAAAATAGTT... | pathogenic | 136,424 |
The genetic variant at chromosome 8, position 76983554, affecting gene PEX2 (peroxisomal biogenesis factor 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Peroxisome_biogenesis_disorder_5A_(Zellweger)'] | TATTTTTATTTTTTTAGAAACGAACTCAAACTCCTGGGCTCAGCCTCCCTAAGTAGGGAGCCTGGGATTACAGGCATGAGCCATTGTGCTCAGCCCTAAAATAGTTTTGAAGAATATTTATACATAGGAAAAAATGCTATTTTTTATGCATTATAATAATTTTGTAAATAAGAAATGTACGTGCAACAAATCTACAAATATAGTAAAATATAGTGATGATCTCTCTCAAAAAATTGTGGGAAAGTTGATTTTATATTTTTTCCTGAATTGTTGGTGTTTTCTACAATAATGTTTTAAAATTACAGAAGGCAAAAGAAGGC... | TATTTTTATTTTTTTAGAAACGAACTCAAACTCCTGGGCTCAGCCTCCCTAAGTAGGGAGCCTGGGATTACAGGCATGAGCCATTGTGCTCAGCCCTAAAATAGTTTTGAAGAATATTTATACATAGGAAAAAATGCTATTTTTTATGCATTATAATAATTTTGTAAATAAGAAATGTACGTGCAACAAATCTACAAATATAGTAAAATATAGTGATGATCTCTCTCAAAAAATTGTGGGAAAGTTGATTTTATATTTTTTCCTGAATTGTTGGTGTTTTCTACAATAATGTTTTAAAATTACAGAAGGCAAAAGAAGGC... | pathogenic | 136,428 |
Regarding the variant found on chromosome 8 at position 76983560 in gene PEX2 (peroxisomal biogenesis factor 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Peroxisome_biogenesis_disorder_5A_(Zellweger)'] | TATTTTTTTAGAAACGAACTCAAACTCCTGGGCTCAGCCTCCCTAAGTAGGGAGCCTGGGATTACAGGCATGAGCCATTGTGCTCAGCCCTAAAATAGTTTTGAAGAATATTTATACATAGGAAAAAATGCTATTTTTTATGCATTATAATAATTTTGTAAATAAGAAATGTACGTGCAACAAATCTACAAATATAGTAAAATATAGTGATGATCTCTCTCAAAAAATTGTGGGAAAGTTGATTTTATATTTTTTCCTGAATTGTTGGTGTTTTCTACAATAATGTTTTAAAATTACAGAAGGCAAAAGAAGGCAAATTC... | TATTTTTTTAGAAACGAACTCAAACTCCTGGGCTCAGCCTCCCTAAGTAGGGAGCCTGGGATTACAGGCATGAGCCATTGTGCTCAGCCCTAAAATAGTTTTGAAGAATATTTATACATAGGAAAAAATGCTATTTTTTATGCATTATAATAATTTTGTAAATAAGAAATGTACGTGCAACAAATCTACAAATATAGTAAAATATAGTGATGATCTCTCTCAAAAAATTGTGGGAAAGTTGATTTTATATTTTTTCCTGAATTGTTGGTGTTTTCTACAATAATGTTTTAAAATTACAGAAGGCAAAAGAAGGCAAATTC... | pathogenic | 136,429 |
Clinical classification of chromosome 8, position 76983567, gene PEX2 (peroxisomal biogenesis factor 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Peroxisome_biogenesis_disorder_5A_(Zellweger)'] | TTAGAAACGAACTCAAACTCCTGGGCTCAGCCTCCCTAAGTAGGGAGCCTGGGATTACAGGCATGAGCCATTGTGCTCAGCCCTAAAATAGTTTTGAAGAATATTTATACATAGGAAAAAATGCTATTTTTTATGCATTATAATAATTTTGTAAATAAGAAATGTACGTGCAACAAATCTACAAATATAGTAAAATATAGTGATGATCTCTCTCAAAAAATTGTGGGAAAGTTGATTTTATATTTTTTCCTGAATTGTTGGTGTTTTCTACAATAATGTTTTAAAATTACAGAAGGCAAAAGAAGGCAAATTCTTAAGAT... | TTAGAAACGAACTCAAACTCCTGGGCTCAGCCTCCCTAAGTAGGGAGCCTGGGATTACAGGCATGAGCCATTGTGCTCAGCCCTAAAATAGTTTTGAAGAATATTTATACATAGGAAAAAATGCTATTTTTTATGCATTATAATAATTTTGTAAATAAGAAATGTACGTGCAACAAATCTACAAATATAGTAAAATATAGTGATGATCTCTCTCAAAAAATTGTGGGAAAGTTGATTTTATATTTTTTCCTGAATTGTTGGTGTTTTCTACAATAATGTTTTAAAATTACAGAAGGCAAAAGAAGGCAAATTCTTAAGAT... | pathogenic | 136,430 |
Gene PEX2 (peroxisomal biogenesis factor 2) variant at chromosome 8, position 76983628—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Peroxisome_biogenesis_disorder_5A_(Zellweger)', 'Zellweger_spectrum_disorders'] | CATGAGCCATTGTGCTCAGCCCTAAAATAGTTTTGAAGAATATTTATACATAGGAAAAAATGCTATTTTTTATGCATTATAATAATTTTGTAAATAAGAAATGTACGTGCAACAAATCTACAAATATAGTAAAATATAGTGATGATCTCTCTCAAAAAATTGTGGGAAAGTTGATTTTATATTTTTTCCTGAATTGTTGGTGTTTTCTACAATAATGTTTTAAAATTACAGAAGGCAAAAGAAGGCAAATTCTTAAGATGTAAAATACTCTTAACTCAAACTACAAAACTTCTTCAGTATCTTACACTAAATTGAACCTA... | CATGAGCCATTGTGCTCAGCCCTAAAATAGTTTTGAAGAATATTTATACATAGGAAAAAATGCTATTTTTTATGCATTATAATAATTTTGTAAATAAGAAATGTACGTGCAACAAATCTACAAATATAGTAAAATATAGTGATGATCTCTCTCAAAAAATTGTGGGAAAGTTGATTTTATATTTTTTCCTGAATTGTTGGTGTTTTCTACAATAATGTTTTAAAATTACAGAAGGCAAAAGAAGGCAAATTCTTAAGATGTAAAATACTCTTAACTCAAACTACAAAACTTCTTCAGTATCTTACACTAAATTGAACCTA... | pathogenic | 136,431 |
Considering the variant on chromosome 8, location 76983628, involving gene PEX2 (peroxisomal biogenesis factor 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Peroxisome_biogenesis_disorder_5A_(Zellweger)', 'Peroxisome_biogenesis_disorder_5B'] | CATGAGCCATTGTGCTCAGCCCTAAAATAGTTTTGAAGAATATTTATACATAGGAAAAAATGCTATTTTTTATGCATTATAATAATTTTGTAAATAAGAAATGTACGTGCAACAAATCTACAAATATAGTAAAATATAGTGATGATCTCTCTCAAAAAATTGTGGGAAAGTTGATTTTATATTTTTTCCTGAATTGTTGGTGTTTTCTACAATAATGTTTTAAAATTACAGAAGGCAAAAGAAGGCAAATTCTTAAGATGTAAAATACTCTTAACTCAAACTACAAAACTTCTTCAGTATCTTACACTAAATTGAACCTA... | CATGAGCCATTGTGCTCAGCCCTAAAATAGTTTTGAAGAATATTTATACATAGGAAAAAATGCTATTTTTTATGCATTATAATAATTTTGTAAATAAGAAATGTACGTGCAACAAATCTACAAATATAGTAAAATATAGTGATGATCTCTCTCAAAAAATTGTGGGAAAGTTGATTTTATATTTTTTCCTGAATTGTTGGTGTTTTCTACAATAATGTTTTAAAATTACAGAAGGCAAAAGAAGGCAAATTCTTAAGATGTAAAATACTCTTAACTCAAACTACAAAACTTCTTCAGTATCTTACACTAAATTGAACCTA... | pathogenic | 136,432 |
The genetic variant at chromosome 8, position 76983654, affecting gene PEX2 (peroxisomal biogenesis factor 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Peroxisome_biogenesis_disorder_5A_(Zellweger)', 'Peroxisome_biogenesis_disorder_5B'] | ATAGTTTTGAAGAATATTTATACATAGGAAAAAATGCTATTTTTTATGCATTATAATAATTTTGTAAATAAGAAATGTACGTGCAACAAATCTACAAATATAGTAAAATATAGTGATGATCTCTCTCAAAAAATTGTGGGAAAGTTGATTTTATATTTTTTCCTGAATTGTTGGTGTTTTCTACAATAATGTTTTAAAATTACAGAAGGCAAAAGAAGGCAAATTCTTAAGATGTAAAATACTCTTAACTCAAACTACAAAACTTCTTCAGTATCTTACACTAAATTGAACCTAAATTAAACTTACAGTTCATTCAATCA... | ATAGTTTTGAAGAATATTTATACATAGGAAAAAATGCTATTTTTTATGCATTATAATAATTTTGTAAATAAGAAATGTACGTGCAACAAATCTACAAATATAGTAAAATATAGTGATGATCTCTCTCAAAAAATTGTGGGAAAGTTGATTTTATATTTTTTCCTGAATTGTTGGTGTTTTCTACAATAATGTTTTAAAATTACAGAAGGCAAAAGAAGGCAAATTCTTAAGATGTAAAATACTCTTAACTCAAACTACAAAACTTCTTCAGTATCTTACACTAAATTGAACCTAAATTAAACTTACAGTTCATTCAATCA... | pathogenic | 136,434 |
Variant in PEX2 (peroxisomal biogenesis factor 2), chromosome 8, position 76983823—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Peroxisome_biogenesis_disorder_5A_(Zellweger)', 'Peroxisome_biogenesis_disorder_5B'] | GTTGGTGTTTTCTACAATAATGTTTTAAAATTACAGAAGGCAAAAGAAGGCAAATTCTTAAGATGTAAAATACTCTTAACTCAAACTACAAAACTTCTTCAGTATCTTACACTAAATTGAACCTAAATTAAACTTACAGTTCATTCAATCACAGAATGTAAACTCCATGAAGGTAACTTGATTTTTCCTGCTTAATATACTGTTGTGCCTCTAATGGCTACATCAGTACCTGGCACCTGAGTACTTGTTCAATGAAAGGTGAAGAGAAAAATGAACTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAA... | GTTGGTGTTTTCTACAATAATGTTTTAAAATTACAGAAGGCAAAAGAAGGCAAATTCTTAAGATGTAAAATACTCTTAACTCAAACTACAAAACTTCTTCAGTATCTTACACTAAATTGAACCTAAATTAAACTTACAGTTCATTCAATCACAGAATGTAAACTCCATGAAGGTAACTTGATTTTTCCTGCTTAATATACTGTTGTGCCTCTAATGGCTACATCAGTACCTGGCACCTGAGTACTTGTTCAATGAAAGGTGAAGAGAAAAATGAACTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAA... | pathogenic | 136,438 |
Gene mutation in PEX2 (peroxisomal biogenesis factor 2) at chromosome 8, position 76983826—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_5A_(Zellweger)', 'Peroxisome_biogenesis_disorder_5B'] | GGTGTTTTCTACAATAATGTTTTAAAATTACAGAAGGCAAAAGAAGGCAAATTCTTAAGATGTAAAATACTCTTAACTCAAACTACAAAACTTCTTCAGTATCTTACACTAAATTGAACCTAAATTAAACTTACAGTTCATTCAATCACAGAATGTAAACTCCATGAAGGTAACTTGATTTTTCCTGCTTAATATACTGTTGTGCCTCTAATGGCTACATCAGTACCTGGCACCTGAGTACTTGTTCAATGAAAGGTGAAGAGAAAAATGAACTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAACAT... | GGTGTTTTCTACAATAATGTTTTAAAATTACAGAAGGCAAAAGAAGGCAAATTCTTAAGATGTAAAATACTCTTAACTCAAACTACAAAACTTCTTCAGTATCTTACACTAAATTGAACCTAAATTAAACTTACAGTTCATTCAATCACAGAATGTAAACTCCATGAAGGTAACTTGATTTTTCCTGCTTAATATACTGTTGTGCCTCTAATGGCTACATCAGTACCTGGCACCTGAGTACTTGTTCAATGAAAGGTGAAGAGAAAAATGAACTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAACAT... | pathogenic | 136,440 |
Variant in gene PEX2 (peroxisomal biogenesis factor 2), located at chromosome 8 position 76983833: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_5A_(Zellweger)', 'Peroxisome_biogenesis_disorder_5B', 'Zellweger_spectrum_disorders'] | TCTACAATAATGTTTTAAAATTACAGAAGGCAAAAGAAGGCAAATTCTTAAGATGTAAAATACTCTTAACTCAAACTACAAAACTTCTTCAGTATCTTACACTAAATTGAACCTAAATTAAACTTACAGTTCATTCAATCACAGAATGTAAACTCCATGAAGGTAACTTGATTTTTCCTGCTTAATATACTGTTGTGCCTCTAATGGCTACATCAGTACCTGGCACCTGAGTACTTGTTCAATGAAAGGTGAAGAGAAAAATGAACTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAACATTTAAAAA... | TCTACAATAATGTTTTAAAATTACAGAAGGCAAAAGAAGGCAAATTCTTAAGATGTAAAATACTCTTAACTCAAACTACAAAACTTCTTCAGTATCTTACACTAAATTGAACCTAAATTAAACTTACAGTTCATTCAATCACAGAATGTAAACTCCATGAAGGTAACTTGATTTTTCCTGCTTAATATACTGTTGTGCCTCTAATGGCTACATCAGTACCTGGCACCTGAGTACTTGTTCAATGAAAGGTGAAGAGAAAAATGAACTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAACATTTAAAAA... | pathogenic | 136,441 |
Clinically, how would you classify the variant at chromosome 8, position 76983853, gene PEX2 (peroxisomal biogenesis factor 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_5A_(Zellweger)'] | TTACAGAAGGCAAAAGAAGGCAAATTCTTAAGATGTAAAATACTCTTAACTCAAACTACAAAACTTCTTCAGTATCTTACACTAAATTGAACCTAAATTAAACTTACAGTTCATTCAATCACAGAATGTAAACTCCATGAAGGTAACTTGATTTTTCCTGCTTAATATACTGTTGTGCCTCTAATGGCTACATCAGTACCTGGCACCTGAGTACTTGTTCAATGAAAGGTGAAGAGAAAAATGAACTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAACATTTAAAAACTGTTTTTTAAAAAACATTC... | TTACAGAAGGCAAAAGAAGGCAAATTCTTAAGATGTAAAATACTCTTAACTCAAACTACAAAACTTCTTCAGTATCTTACACTAAATTGAACCTAAATTAAACTTACAGTTCATTCAATCACAGAATGTAAACTCCATGAAGGTAACTTGATTTTTCCTGCTTAATATACTGTTGTGCCTCTAATGGCTACATCAGTACCTGGCACCTGAGTACTTGTTCAATGAAAGGTGAAGAGAAAAATGAACTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAACATTTAAAAACTGTTTTTTAAAAAACATTC... | pathogenic | 136,442 |
A mutation at chromosome position 76983868 on chromosome 8 in gene PEX2 (peroxisomal biogenesis factor 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_5A_(Zellweger)', 'Zellweger_spectrum_disorders'] | GAAGGCAAATTCTTAAGATGTAAAATACTCTTAACTCAAACTACAAAACTTCTTCAGTATCTTACACTAAATTGAACCTAAATTAAACTTACAGTTCATTCAATCACAGAATGTAAACTCCATGAAGGTAACTTGATTTTTCCTGCTTAATATACTGTTGTGCCTCTAATGGCTACATCAGTACCTGGCACCTGAGTACTTGTTCAATGAAAGGTGAAGAGAAAAATGAACTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAACATTTAAAAACTGTTTTTTAAAAAACATTCTAGTTAAGACGAGAT... | GAAGGCAAATTCTTAAGATGTAAAATACTCTTAACTCAAACTACAAAACTTCTTCAGTATCTTACACTAAATTGAACCTAAATTAAACTTACAGTTCATTCAATCACAGAATGTAAACTCCATGAAGGTAACTTGATTTTTCCTGCTTAATATACTGTTGTGCCTCTAATGGCTACATCAGTACCTGGCACCTGAGTACTTGTTCAATGAAAGGTGAAGAGAAAAATGAACTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAACATTTAAAAACTGTTTTTTAAAAAACATTCTAGTTAAGACGAGAT... | pathogenic | 136,444 |
Assess the variant on chromosome 8, position 76983895, impacting PEX2 (peroxisomal biogenesis factor 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_5A_(Zellweger)', 'Peroxisome_biogenesis_disorder_5B', 'Zellweger_spectrum_disorders'] | CTCTTAACTCAAACTACAAAACTTCTTCAGTATCTTACACTAAATTGAACCTAAATTAAACTTACAGTTCATTCAATCACAGAATGTAAACTCCATGAAGGTAACTTGATTTTTCCTGCTTAATATACTGTTGTGCCTCTAATGGCTACATCAGTACCTGGCACCTGAGTACTTGTTCAATGAAAGGTGAAGAGAAAAATGAACTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAACATTTAAAAACTGTTTTTTAAAAAACATTCTAGTTAAGACGAGATAATTCAATGTTCAAGCTAATAATTCTA... | CTCTTAACTCAAACTACAAAACTTCTTCAGTATCTTACACTAAATTGAACCTAAATTAAACTTACAGTTCATTCAATCACAGAATGTAAACTCCATGAAGGTAACTTGATTTTTCCTGCTTAATATACTGTTGTGCCTCTAATGGCTACATCAGTACCTGGCACCTGAGTACTTGTTCAATGAAAGGTGAAGAGAAAAATGAACTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAACATTTAAAAACTGTTTTTTAAAAAACATTCTAGTTAAGACGAGATAATTCAATGTTCAAGCTAATAATTCTA... | pathogenic | 136,446 |
Considering the genetic mutation at chromosome 8, position 76983960, impacting PEX2 (peroxisomal biogenesis factor 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Peroxisome_biogenesis_disorder_5A_(Zellweger)'] | AGTTCATTCAATCACAGAATGTAAACTCCATGAAGGTAACTTGATTTTTCCTGCTTAATATACTGTTGTGCCTCTAATGGCTACATCAGTACCTGGCACCTGAGTACTTGTTCAATGAAAGGTGAAGAGAAAAATGAACTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAACATTTAAAAACTGTTTTTTAAAAAACATTCTAGTTAAGACGAGATAATTCAATGTTCAAGCTAATAATTCTATACCATTTTAAGAGTCTGAATTTACTTTTAAGTAAAAAAAGGCAGAGAAAAAGAGTGAAGGATAC... | AGTTCATTCAATCACAGAATGTAAACTCCATGAAGGTAACTTGATTTTTCCTGCTTAATATACTGTTGTGCCTCTAATGGCTACATCAGTACCTGGCACCTGAGTACTTGTTCAATGAAAGGTGAAGAGAAAAATGAACTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAACATTTAAAAACTGTTTTTTAAAAAACATTCTAGTTAAGACGAGATAATTCAATGTTCAAGCTAATAATTCTATACCATTTTAAGAGTCTGAATTTACTTTTAAGTAAAAAAAGGCAGAGAAAAAGAGTGAAGGATAC... | pathogenic | 136,449 |
Is the chromosome 8, position 76984007 variant in PEX2 (peroxisomal biogenesis factor 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Peroxisome_biogenesis_disorder_5A_(Zellweger)', 'Peroxisome_biogenesis_disorder_5B'] | TTCCTGCTTAATATACTGTTGTGCCTCTAATGGCTACATCAGTACCTGGCACCTGAGTACTTGTTCAATGAAAGGTGAAGAGAAAAATGAACTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAACATTTAAAAACTGTTTTTTAAAAAACATTCTAGTTAAGACGAGATAATTCAATGTTCAAGCTAATAATTCTATACCATTTTAAGAGTCTGAATTTACTTTTAAGTAAAAAAAGGCAGAGAAAAAGAGTGAAGGATACAGAATTATCTTGATTATGCACTGCTGTTACTATTCCCATGCTAAAGA... | TTCCTGCTTAATATACTGTTGTGCCTCTAATGGCTACATCAGTACCTGGCACCTGAGTACTTGTTCAATGAAAGGTGAAGAGAAAAATGAACTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAACATTTAAAAACTGTTTTTTAAAAAACATTCTAGTTAAGACGAGATAATTCAATGTTCAAGCTAATAATTCTATACCATTTTAAGAGTCTGAATTTACTTTTAAGTAAAAAAAGGCAGAGAAAAAGAGTGAAGGATACAGAATTATCTTGATTATGCACTGCTGTTACTATTCCCATGCTAAAGA... | pathogenic | 136,451 |
Determine whether the variant at chromosome 8, position 76984032, in gene PEX2 (peroxisomal biogenesis factor 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Peroxisome_biogenesis_disorder_5A_(Zellweger)'] | TCTAATGGCTACATCAGTACCTGGCACCTGAGTACTTGTTCAATGAAAGGTGAAGAGAAAAATGAACTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAACATTTAAAAACTGTTTTTTAAAAAACATTCTAGTTAAGACGAGATAATTCAATGTTCAAGCTAATAATTCTATACCATTTTAAGAGTCTGAATTTACTTTTAAGTAAAAAAAGGCAGAGAAAAAGAGTGAAGGATACAGAATTATCTTGATTATGCACTGCTGTTACTATTCCCATGCTAAAGACCCCTTTTGTTTCAATAAAACTATC... | TCTAATGGCTACATCAGTACCTGGCACCTGAGTACTTGTTCAATGAAAGGTGAAGAGAAAAATGAACTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAACATTTAAAAACTGTTTTTTAAAAAACATTCTAGTTAAGACGAGATAATTCAATGTTCAAGCTAATAATTCTATACCATTTTAAGAGTCTGAATTTACTTTTAAGTAAAAAAAGGCAGAGAAAAAGAGTGAAGGATACAGAATTATCTTGATTATGCACTGCTGTTACTATTCCCATGCTAAAGACCCCTTTTGTTTCAATAAAACTATC... | pathogenic | 136,453 |
Is the genetic change at chromosome 8, position 76984098, within gene PEX2 (peroxisomal biogenesis factor 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Peroxisome_biogenesis_disorder_5A_(Zellweger)'] | CTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAACATTTAAAAACTGTTTTTTAAAAAACATTCTAGTTAAGACGAGATAATTCAATGTTCAAGCTAATAATTCTATACCATTTTAAGAGTCTGAATTTACTTTTAAGTAAAAAAAGGCAGAGAAAAAGAGTGAAGGATACAGAATTATCTTGATTATGCACTGCTGTTACTATTCCCATGCTAAAGACCCCTTTTGTTTCAATAAAACTATCAATATTTACTGAGAATGACAGCTCTGAATCAAAGGCAAGAGAAAGAGACCTGTAAATAGTGCTGTT... | CTGGCAGTGTATTTCCATCATACTAGCAAGATGTTTATTTAAAAACATTTAAAAACTGTTTTTTAAAAAACATTCTAGTTAAGACGAGATAATTCAATGTTCAAGCTAATAATTCTATACCATTTTAAGAGTCTGAATTTACTTTTAAGTAAAAAAAGGCAGAGAAAAAGAGTGAAGGATACAGAATTATCTTGATTATGCACTGCTGTTACTATTCCCATGCTAAAGACCCCTTTTGTTTCAATAAAACTATCAATATTTACTGAGAATGACAGCTCTGAATCAAAGGCAAGAGAAAGAGACCTGTAAATAGTGCTGTT... | pathogenic | 136,454 |
Gene mutation in PEX2 (peroxisomal biogenesis factor 2) at chromosome 8, position 76984141—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Peroxisome_biogenesis_disorder_5A_(Zellweger)'] | AACATTTAAAAACTGTTTTTTAAAAAACATTCTAGTTAAGACGAGATAATTCAATGTTCAAGCTAATAATTCTATACCATTTTAAGAGTCTGAATTTACTTTTAAGTAAAAAAAGGCAGAGAAAAAGAGTGAAGGATACAGAATTATCTTGATTATGCACTGCTGTTACTATTCCCATGCTAAAGACCCCTTTTGTTTCAATAAAACTATCAATATTTACTGAGAATGACAGCTCTGAATCAAAGGCAAGAGAAAGAGACCTGTAAATAGTGCTGTTCATACTAGTTGCCCCCAGTAGTTCCCAGGCCTCACTTCCAAGC... | AACATTTAAAAACTGTTTTTTAAAAAACATTCTAGTTAAGACGAGATAATTCAATGTTCAAGCTAATAATTCTATACCATTTTAAGAGTCTGAATTTACTTTTAAGTAAAAAAAGGCAGAGAAAAAGAGTGAAGGATACAGAATTATCTTGATTATGCACTGCTGTTACTATTCCCATGCTAAAGACCCCTTTTGTTTCAATAAAACTATCAATATTTACTGAGAATGACAGCTCTGAATCAAAGGCAAGAGAAAGAGACCTGTAAATAGTGCTGTTCATACTAGTTGCCCCCAGTAGTTCCCAGGCCTCACTTCCAAGC... | pathogenic | 136,455 |
Evaluate the clinical significance of the mutation at chromosome 8, position 81444913 in gene PMP2 (peripheral myelin protein 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Peripheral_neuropathy'] | CTATAAATTTAACTGTCTATAAATTATCCATTAATTTTAAAATGTTGGCTGGAGTAGAGGCTACCCCTTTTAACTGAGACTACAATTCTTTACATTATAATAGCCCATTCTCCTAGCTTGCCTCATTTCTGATGCTCCTTCCCCATATCTCCTCTGGCCCCTGTCAGCATTTGAGTTTGCTACCCTGATCAATACTTTGATTTCATTTTACTAAGAAATTATATCCTTTTTATTATCATTTCAAGTATACAAAGTTCAACATAGATTAGAATTTTGTAGTTAATTGAATGACATCATCAACTGTTTGTGTCTGGCCAATA... | CTATAAATTTAACTGTCTATAAATTATCCATTAATTTTAAAATGTTGGCTGGAGTAGAGGCTACCCCTTTTAACTGAGACTACAATTCTTTACATTATAATAGCCCATTCTCCTAGCTTGCCTCATTTCTGATGCTCCTTCCCCATATCTCCTCTGGCCCCTGTCAGCATTTGAGTTTGCTACCCTGATCAATACTTTGATTTCATTTTACTAAGAAATTATATCCTTTTTATTATCATTTCAAGTATACAAAGTTCAACATAGATTAGAATTTTGTAGTTAATTGAATGACATCATCAACTGTTTGTGTCTGGCCAATA... | pathogenic | 136,474 |
Chromosome 8, position 85477242, gene CA2 (carbonic anhydrase 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Osteopetrosis_with_renal_tubular_acidosis'] | AAAAACAAAACAAAAACAAAAACACAAAATTAGCTGGGCATGGTGGTATACACCTGTAGTTTCAGCTACTTGGGAAGCCAGGGCAGGAAAATCACTGCAGCCTAGGGGTTGAGGTTGCAGTGAGCTATGATCATGCCACTGCACTACAAGCTGGATGACAGAGCAAGACTCTGACTCTAAAAAAAAAAAAAAAAAAAAAAAAAGCGAGAGTCAAGAGAGATTTGGGTTGCTGGAAGGCGTAGGGAAAGCCAAAGAAGAAAATAATTTTTAAAAAGAAGGGAAGACCATAGTGTAAAGTCCTACAAGGAAATCAAGGCAAG... | AAAAACAAAACAAAAACAAAAACACAAAATTAGCTGGGCATGGTGGTATACACCTGTAGTTTCAGCTACTTGGGAAGCCAGGGCAGGAAAATCACTGCAGCCTAGGGGTTGAGGTTGCAGTGAGCTATGATCATGCCACTGCACTACAAGCTGGATGACAGAGCAAGACTCTGACTCTAAAAAAAAAAAAAAAAAAAAAAAAAGCGAGAGTCAAGAGAGATTTGGGTTGCTGGAAGGCGTAGGGAAAGCCAAAGAAGAAAATAATTTTTAAAAAGAAGGGAAGACCATAGTGTAAAGTCCTACAAGGAAATCAAGGCAAG... | pathogenic | 136,517 |
Regarding the variant at chromosome 8 and position 85480684, affecting gene CA2 (carbonic anhydrase 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Osteopetrosis_with_renal_tubular_acidosis'] | CCCTGAGTTTGCTCTTTAAAGTTGAAAGTGGTATTAAACTAATGATGTTAATTGTATATATTGGCAAAATACCAATAGGGCTCTTTTTTTTGTCCTATAACATGGAATCTGGAGGAAGGATCATGCTCAGCTCAGGAAGCTAGGGCTGCAGGTCCTCCTCTATCTGAGTCCCTTGACTTGGCCTTGCCAATTGGTGACTTCATCCTCAAGGTGGTTGTAATAGCATTTTGAGCATCACATCTAGATATAACCACTTCTTGAGGAGGAAATGAATACCTCTTCCATTGGCTTCCTAAGAGCAGAGAAGCTCTTTCCTGAAG... | CCCTGAGTTTGCTCTTTAAAGTTGAAAGTGGTATTAAACTAATGATGTTAATTGTATATATTGGCAAAATACCAATAGGGCTCTTTTTTTTGTCCTATAACATGGAATCTGGAGGAAGGATCATGCTCAGCTCAGGAAGCTAGGGCTGCAGGTCCTCCTCTATCTGAGTCCCTTGACTTGGCCTTGCCAATTGGTGACTTCATCCTCAAGGTGGTTGTAATAGCATTTTGAGCATCACATCTAGATATAACCACTTCTTGAGGAGGAAATGAATACCTCTTCCATTGGCTTCCTAAGAGCAGAGAAGCTCTTTCCTGAAG... | pathogenic | 136,521 |
Does the chromosome 8 mutation at position 86576049 within gene CNGB3 (cyclic nucleotide gated channel subunit beta 3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Achromatopsia_3'] | GAAAAAGAAAGGATAATTAGAAAGATTTAAAAAGAAAAAGAATTTGGTGGCACCAAATCAACAATAAAAGAGTTCTTGAATTTTCTTAGATTTTAGTCTGATGGATTGGAAATAAATTGATATTATCTGAAACAGGATAGCTTGGGGGGGAAAATAACTGCCAGGCGAAAAGCATAAATTGCAATGGTCTTGTATTTTAATATCATTTGAATAAATTACAGGGTGTAAAGGGAAAGCATATTGCTCACAAGTTGAGGACTTTTGTCCTTTTCTTTTCCTATTATCAGATGCTTCAGCCCTATTCTACCTTTTGTTTCTGG... | GAAAAAGAAAGGATAATTAGAAAGATTTAAAAAGAAAAAGAATTTGGTGGCACCAAATCAACAATAAAAGAGTTCTTGAATTTTCTTAGATTTTAGTCTGATGGATTGGAAATAAATTGATATTATCTGAAACAGGATAGCTTGGGGGGGAAAATAACTGCCAGGCGAAAAGCATAAATTGCAATGGTCTTGTATTTTAATATCATTTGAATAAATTACAGGGTGTAAAGGGAAAGCATATTGCTCACAAGTTGAGGACTTTTGTCCTTTTCTTTTCCTATTATCAGATGCTTCAGCCCTATTCTACCTTTTGTTTCTGG... | pathogenic | 136,555 |
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