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 |
|---|---|---|---|---|---|
A mutation at chromosome position 41933987 on chromosome 8 in gene KAT6A (lysine acetyltransferase 6A): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_dominant_intellectual_disability-craniofacial_anomalies-cardiac_defects_syndrome', 'Inborn_genetic_diseases'] | GCATGTTTCCCCATCCCCAAATCCATTTTTAGATGAGTTCTACTGTAAAATGTTCAAGATTGTGAAGAAAACCAAAACCCAGAACAAAATGAACCCAAAAAAAGAGAAGATCAGGTTTTCTAAAAAATAAAATAAACCAAAGAAAAATTCCTCTAAATCTACAGCAATATTTTAACTGGAAAAAGGTCCATTTTTCTCTGGTTTGTCAGTATAAAAGGTTCCTTTATTTATATATATTTAAGTTTTTGATTGCAAGTTCATCTTGCTCATCTTCTCATGTAAGGTCCGTTGAGTGACTGCTTGGGCACGCCAGCAGCGTT... | GCATGTTTCCCCATCCCCAAATCCATTTTTAGATGAGTTCTACTGTAAAATGTTCAAGATTGTGAAGAAAACCAAAACCCAGAACAAAATGAACCCAAAAAAAGAGAAGATCAGGTTTTCTAAAAAATAAAATAAACCAAAGAAAAATTCCTCTAAATCTACAGCAATATTTTAACTGGAAAAAGGTCCATTTTTCTCTGGTTTGTCAGTATAAAAGGTTCCTTTATTTATATATATTTAAGTTTTTGATTGCAAGTTCATCTTGCTCATCTTCTCATGTAAGGTCCGTTGAGTGACTGCTTGGGCACGCCAGCAGCGTT... | pathogenic | 134,294 |
Classify the chromosome 8 variant at position 41934181 affecting gene KAT6A (lysine acetyltransferase 6A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_dominant_intellectual_disability-craniofacial_anomalies-cardiac_defects_syndrome'] | TCTCTGGTTTGTCAGTATAAAAGGTTCCTTTATTTATATATATTTAAGTTTTTGATTGCAAGTTCATCTTGCTCATCTTCTCATGTAAGGTCCGTTGAGTGACTGCTTGGGCACGCCAGCAGCGTTCATGTAGCTGTGATGGGAGGGGCCTGTGTACATCATGTTCCCATGAGGGTTAGGCTGCATAGGCTGCTGGGTATAGGCCTGGCTCCCCATCATTCCCATCTGCATCTGCATAGGATACTGTGCTGTCTGGTTCATGTAGGCAGGGTTACTATGGTAACTGCTGTTCATCATGGGCTGTGTCATTCGATAGCTGT... | TCTCTGGTTTGTCAGTATAAAAGGTTCCTTTATTTATATATATTTAAGTTTTTGATTGCAAGTTCATCTTGCTCATCTTCTCATGTAAGGTCCGTTGAGTGACTGCTTGGGCACGCCAGCAGCGTTCATGTAGCTGTGATGGGAGGGGCCTGTGTACATCATGTTCCCATGAGGGTTAGGCTGCATAGGCTGCTGGGTATAGGCCTGGCTCCCCATCATTCCCATCTGCATCTGCATAGGATACTGTGCTGTCTGGTTCATGTAGGCAGGGTTACTATGGTAACTGCTGTTCATCATGGGCTGTGTCATTCGATAGCTGT... | pathogenic | 134,303 |
Variant at chromosome 8, position 41934352, gene KAT6A (lysine acetyltransferase 6A): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AGGGTTAGGCTGCATAGGCTGCTGGGTATAGGCCTGGCTCCCCATCATTCCCATCTGCATCTGCATAGGATACTGTGCTGTCTGGTTCATGTAGGCAGGGTTACTATGGTAACTGCTGTTCATCATGGGCTGTGTCATTCGATAGCTGTTCATGGCATTCAAGGTGTTCATATTCATGGAATTGACATTATAGGCGGGAGTAGGCATCAGATTAACCCCCATGTTCATGCCACGCTGAACAGCCAGTGCGCGAGGGCCAGCCTGCATGGCAACTGCCGATGGGCTACGGCCATACAGCTGCTGCTGGTGAGCAGCCGCAG... | AGGGTTAGGCTGCATAGGCTGCTGGGTATAGGCCTGGCTCCCCATCATTCCCATCTGCATCTGCATAGGATACTGTGCTGTCTGGTTCATGTAGGCAGGGTTACTATGGTAACTGCTGTTCATCATGGGCTGTGTCATTCGATAGCTGTTCATGGCATTCAAGGTGTTCATATTCATGGAATTGACATTATAGGCGGGAGTAGGCATCAGATTAACCCCCATGTTCATGCCACGCTGAACAGCCAGTGCGCGAGGGCCAGCCTGCATGGCAACTGCCGATGGGCTACGGCCATACAGCTGCTGCTGGTGAGCAGCCGCAG... | benign | 134,306 |
The chromosome 8, position 41934461 genetic variant in gene KAT6A (lysine acetyltransferase 6A): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TAACTGCTGTTCATCATGGGCTGTGTCATTCGATAGCTGTTCATGGCATTCAAGGTGTTCATATTCATGGAATTGACATTATAGGCGGGAGTAGGCATCAGATTAACCCCCATGTTCATGCCACGCTGAACAGCCAGTGCGCGAGGGCCAGCCTGCATGGCAACTGCCGATGGGCTACGGCCATACAGCTGCTGCTGGTGAGCAGCCGCAGAGGGCAGTGGCGCAGACTTGGAGCGGATGGAAATGTGCCCCTTCACTGGCATTTGCCCTTGCAATCTCTGCGTGTGAGGAATGCCAATGTTGGTGGCAGACATGTTGCA... | TAACTGCTGTTCATCATGGGCTGTGTCATTCGATAGCTGTTCATGGCATTCAAGGTGTTCATATTCATGGAATTGACATTATAGGCGGGAGTAGGCATCAGATTAACCCCCATGTTCATGCCACGCTGAACAGCCAGTGCGCGAGGGCCAGCCTGCATGGCAACTGCCGATGGGCTACGGCCATACAGCTGCTGCTGGTGAGCAGCCGCAGAGGGCAGTGGCGCAGACTTGGAGCGGATGGAAATGTGCCCCTTCACTGGCATTTGCCCTTGCAATCTCTGCGTGTGAGGAATGCCAATGTTGGTGGCAGACATGTTGCA... | benign | 134,314 |
The chromosome 8, position 41937278 genetic variant in gene KAT6A (lysine acetyltransferase 6A): benign or pathogenic? If pathogenic, indicate disease(s). | benign | AAGCAGTACTTTTATCAAGTTGTCTCTACTAAAAGTTACAAATTAGCTTATTTCCTCTTTTTTTTTCTGCTTGTGATTTACTTTATCTCTCGGATTTTCTTACTTTCCACAAATCATCACTTCAGGTAGTATGATGAGCCAATTACTCTAGGCCATGACTGAGCCATCGTATGTGAACAGTTGTTCAATTAATGTTGTGTTTGTATGGGAATAGCTGCAAAGCATTTATTTAGTCCTAGACAAAAACTGACATTTAGACTTAGACAAACAAGAAAAAATTAAAGCACCAATTACATTCATTAGAAATAAATTTTATATTA... | AAGCAGTACTTTTATCAAGTTGTCTCTACTAAAAGTTACAAATTAGCTTATTTCCTCTTTTTTTTTCTGCTTGTGATTTACTTTATCTCTCGGATTTTCTTACTTTCCACAAATCATCACTTCAGGTAGTATGATGAGCCAATTACTCTAGGCCATGACTGAGCCATCGTATGTGAACAGTTGTTCAATTAATGTTGTGTTTGTATGGGAATAGCTGCAAAGCATTTATTTAGTCCTAGACAAAAACTGACATTTAGACTTAGACAAACAAGAAAAAATTAAAGCACCAATTACATTCATTAGAAATAAATTTTATATTA... | benign | 134,336 |
A genetic alteration at chromosome 8, position 41940901, in gene KAT6A (lysine acetyltransferase 6A)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GGGAGCGTTGCTTGCATCCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCGCTGCACTCCAGCCTAGGTGACAGAGTAAGACCCCATCTGGGGAAGGAAAAAAAAAAAAAAAAAAAAAAAGCAGCAGCAGCCCAAGAGGGAAACTAAAAGAAGGAGCTTCTAATGGTCAAAACTGGAACAATCTGAGCAACAAATTTTAAAAAGCAGTAGTATTGGATTATAAAGTGAAGTATCACGTAAATATCTGGGCCAATAATGATATAAATAAATGCTTGGATAAATAAACAGATGAGGGAGAAAGGACAAATCTCCCAA... | GGGAGCGTTGCTTGCATCCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCGCTGCACTCCAGCCTAGGTGACAGAGTAAGACCCCATCTGGGGAAGGAAAAAAAAAAAAAAAAAAAAAAAGCAGCAGCAGCCCAAGAGGGAAACTAAAAGAAGGAGCTTCTAATGGTCAAAACTGGAACAATCTGAGCAACAAATTTTAAAAAGCAGTAGTATTGGATTATAAAGTGAAGTATCACGTAAATATCTGGGCCAATAATGATATAAATAAATGCTTGGATAAATAAACAGATGAGGGAGAAAGGACAAATCTCCCAA... | benign | 134,359 |
Does the variant on chromosome 8 at location 41955387 affecting gene KAT6A (lysine acetyltransferase 6A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Global_developmental_delay', 'Neurodevelopmental_disorder'] | TGACAGACATGTGGAAAAGCTTTCTTTTCTAAGTTGAGTGCTCTTGTGATTTGGGCAGCTTGCAAAGAGCTCACTTAAAAAATGATCATAACAACTTATTTTAAACCTGATGAAAAAATTAATTCCTTGGCATATTTATTTTCTTTTCTTTTGAGATGGAGTTTCGCTCCTGTTGCCCAGGCGAGAGTGCAATGGCGCGATCTCAGTTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACGCCTGGCTAATTTTTATATTTTTAGTAG... | TGACAGACATGTGGAAAAGCTTTCTTTTCTAAGTTGAGTGCTCTTGTGATTTGGGCAGCTTGCAAAGAGCTCACTTAAAAAATGATCATAACAACTTATTTTAAACCTGATGAAAAAATTAATTCCTTGGCATATTTATTTTCTTTTCTTTTGAGATGGAGTTTCGCTCCTGTTGCCCAGGCGAGAGTGCAATGGCGCGATCTCAGTTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACGCCTGGCTAATTTTTATATTTTTAGTAG... | pathogenic | 134,399 |
The genetic variant at chromosome 8, position 41977232, affecting gene KAT6A (lysine acetyltransferase 6A): benign or pathogenic? Disease name(s) if pathogenic? | benign | TCAAAAAAACCTCTTGAGTAGCTACCTTAACTGATGTCAGCAGTACTAACTCCCATCACATTCTGGGTGCCCTTTTAAAGTTAAAGCACAAACTTTAAAACACTGTCCTTTTAAAGCACAAACTCTATTTACCCAGATGATAATCATCTGGGTAAATATGAAAACGTATGATAATTATCTACTAAATGATGGAACTTCCTCAAGTTGGCAAAAAACTAGTGAAGAGAGTATTTGGGACTTATGAAGATCATTATCCTTTGCATTTGAAGATGACACTGCTGTTGGGCTCATTTGCTCTCTTTATAAGTATGGCTGAAAAG... | TCAAAAAAACCTCTTGAGTAGCTACCTTAACTGATGTCAGCAGTACTAACTCCCATCACATTCTGGGTGCCCTTTTAAAGTTAAAGCACAAACTTTAAAACACTGTCCTTTTAAAGCACAAACTCTATTTACCCAGATGATAATCATCTGGGTAAATATGAAAACGTATGATAATTATCTACTAAATGATGGAACTTCCTCAAGTTGGCAAAAAACTAGTGAAGAGAGTATTTGGGACTTATGAAGATCATTATCCTTTGCATTTGAAGATGACACTGCTGTTGGGCTCATTTGCTCTCTTTATAAGTATGGCTGAAAAG... | benign | 134,409 |
Clinical significance of chromosome 8, position 42439531, gene SLC20A2 (solute carrier family 20 member 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Idiopathic_basal_ganglia_calcification_1', 'SLC20A2-related_disorder'] | CACATGACCGTCGCTCCTGGTGTGGCCGTCGAAGCCGAAGGTGCCGTTGGAGATGGGCGATTTCACAGAGCCATGGGTCATGGACAGTGCTCTTCCTGAAAAGGGTTAGAGAAGGTCTCATTTTCCAGTCTTTTTTTTTTTTTTCTTTTCTTTTTGAGACGGAGCCTTGCTCTGTCCTCAGGGTGGAGTACAATGGCGCAATCTCGGCTCACTGCAACCTTCGCCTCCCGGGTTCAAGCGATTCTCCCTCAGCCTCCTGAGTAGCTGGGACTACAAGCGCGACACCATGCCCAGCTAACTTTTTTGTATTTTTAGTAGAG... | CACATGACCGTCGCTCCTGGTGTGGCCGTCGAAGCCGAAGGTGCCGTTGGAGATGGGCGATTTCACAGAGCCATGGGTCATGGACAGTGCTCTTCCTGAAAAGGGTTAGAGAAGGTCTCATTTTCCAGTCTTTTTTTTTTTTTTCTTTTCTTTTTGAGACGGAGCCTTGCTCTGTCCTCAGGGTGGAGTACAATGGCGCAATCTCGGCTCACTGCAACCTTCGCCTCCCGGGTTCAAGCGATTCTCCCTCAGCCTCCTGAGTAGCTGGGACTACAAGCGCGACACCATGCCCAGCTAACTTTTTTGTATTTTTAGTAGAG... | pathogenic | 134,518 |
Classify the chromosome 8 variant at position 42459924 affecting gene SLC20A2 (solute carrier family 20 member 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Idiopathic_basal_ganglia_calcification_1'] | TATTCCCAGTACTGAAACATATAAAATATAATTAGATATTCTTAATAAAATCTGAGGAACATTACATTGAGAACTCCTAGTTTGAGAAAGTAATAAGGATTTCCACTATTTTGGAAGAGGGCGCTTTTCGATTATGATAGGACATGTCATTTAGCAGAAATTTCATCTTTAAAACACAGAGAGGGAGCCTTTTCTGTCAACATGGCCAATAACCAAATCTTCATCCATAACAGACATTAAGAAGATGAAAACCAGCACAAACTAACACATCTGTTGATGTCACAGATCCCACAGTCTGGCTGTAGGAGGCGCATCTCACA... | TATTCCCAGTACTGAAACATATAAAATATAATTAGATATTCTTAATAAAATCTGAGGAACATTACATTGAGAACTCCTAGTTTGAGAAAGTAATAAGGATTTCCACTATTTTGGAAGAGGGCGCTTTTCGATTATGATAGGACATGTCATTTAGCAGAAATTTCATCTTTAAAACACAGAGAGGGAGCCTTTTCTGTCAACATGGCCAATAACCAAATCTTCATCCATAACAGACATTAAGAAGATGAAAACCAGCACAAACTAACACATCTGTTGATGTCACAGATCCCACAGTCTGGCTGTAGGAGGCGCATCTCACA... | pathogenic | 134,523 |
Is the chromosome 8, position 42463011 variant in SLC20A2 (solute carrier family 20 member 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Idiopathic_basal_ganglia_calcification_1', 'SLC20A2-related_disorder'] | AAGCATCTCAAAGACTGCTACTGCCAAATGCAAACACGCCTGGAAGTCAAGTATGTTTGCAGAACAGTACAGCCCATCAAGGAGCTGTTCTGGAATGTCTCAAGGAGCCAAGAGCACTTGTCAAGAGGCTCGAGTTGAATGCAGTGAGGCGTGATGCAGCAAGAGCAGGGCAGAATGAGACTCAAGTGTGGGAGTGTCACACCAGACCAGGCAGGGGAGGCAGCCATGTGGCAAACACCAAGATTAATGGGCTGGAGCCTGGCATGAGTGACACAGCCAGCTATGATCATCTGTGATGTATCACGTGAAAAGAACCCAGG... | AAGCATCTCAAAGACTGCTACTGCCAAATGCAAACACGCCTGGAAGTCAAGTATGTTTGCAGAACAGTACAGCCCATCAAGGAGCTGTTCTGGAATGTCTCAAGGAGCCAAGAGCACTTGTCAAGAGGCTCGAGTTGAATGCAGTGAGGCGTGATGCAGCAAGAGCAGGGCAGAATGAGACTCAAGTGTGGGAGTGTCACACCAGACCAGGCAGGGGAGGCAGCCATGTGGCAAACACCAAGATTAATGGGCTGGAGCCTGGCATGAGTGACACAGCCAGCTATGATCATCTGTGATGTATCACGTGAAAAGAACCCAGG... | pathogenic | 134,526 |
Gene THAP1 (THAP domain containing 1) variant at chromosome 8, position 42838118—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Torsion_dystonia_6'] | GAGTACTTCCAGGAATTGCTAGAAAGATGACATATAAAACCAAACTTCTTGAATACTTTGTAGCTTCGAGTTCCATGAATAATCTGTAAAAGCCTTCTGACTGATCAGCATGAGTTCTAAATGATGTTATCAGACTATGTAACTTCAAGTAATCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTTGCTTTATTGCCCAGGCTGGAGTGTAGTGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAGGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACTCGCCACCATGC... | GAGTACTTCCAGGAATTGCTAGAAAGATGACATATAAAACCAAACTTCTTGAATACTTTGTAGCTTCGAGTTCCATGAATAATCTGTAAAAGCCTTCTGACTGATCAGCATGAGTTCTAAATGATGTTATCAGACTATGTAACTTCAAGTAATCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTTGCTTTATTGCCCAGGCTGGAGTGTAGTGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAGGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACTCGCCACCATGC... | pathogenic | 134,551 |
Clinical classification of chromosome 8, position 42838330, gene THAP1 (THAP domain containing 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Torsion_dystonia_6'] | GTGTAGTGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAGGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACTCGCCACCATGCCCAGCTAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGGCGCCCCGCCCAACTTCAAGTAATCTTCTAATCATTATTTCTATTTTTGAGATACTGGTTCATAAAACATCAAATATGCATGA... | GTGTAGTGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAGGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACTCGCCACCATGCCCAGCTAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGGCGCCCCGCCCAACTTCAAGTAATCTTCTAATCATTATTTCTATTTTTGAGATACTGGTTCATAAAACATCAAATATGCATGA... | pathogenic | 134,554 |
Chromosome 8, position 42839243, gene THAP1 (THAP domain containing 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Torsion_dystonia_6'] | CAGGTCCCAGTTTTAATTACTTCATTGATGACAATGCCTTACTTTATTTATTGAAAAATGTTTCTTCCACTGAAAATACACTTCTAATTTTATAATGCAAGACAGTAGGGGAAAAAATAGGAGCCCATGTAAAAAAAAAAAATCCACTCTTAGAATCTGAAGTTATTGATCAGATATGCAATGACTTTTTTCTGCTGTGATGATAATCAAATCTTTTTTCTTAAGTACTGACTTGCCAATTTATCTTTGATAACTGATTCAGAAAGATAAATGAACCTTGTGACTTTACATATGAGAATATGTACATATGTATATATATA... | CAGGTCCCAGTTTTAATTACTTCATTGATGACAATGCCTTACTTTATTTATTGAAAAATGTTTCTTCCACTGAAAATACACTTCTAATTTTATAATGCAAGACAGTAGGGGAAAAAATAGGAGCCCATGTAAAAAAAAAAAATCCACTCTTAGAATCTGAAGTTATTGATCAGATATGCAATGACTTTTTTCTGCTGTGATGATAATCAAATCTTTTTTCTTAAGTACTGACTTGCCAATTTATCTTTGATAACTGATTCAGAAAGATAAATGAACCTTGTGACTTTACATATGAGAATATGTACATATGTATATATATA... | pathogenic | 134,557 |
The chromosome 8, position 42839254 genetic variant in gene THAP1 (THAP domain containing 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Torsion_dystonia_6'] | TTTAATTACTTCATTGATGACAATGCCTTACTTTATTTATTGAAAAATGTTTCTTCCACTGAAAATACACTTCTAATTTTATAATGCAAGACAGTAGGGGAAAAAATAGGAGCCCATGTAAAAAAAAAAAATCCACTCTTAGAATCTGAAGTTATTGATCAGATATGCAATGACTTTTTTCTGCTGTGATGATAATCAAATCTTTTTTCTTAAGTACTGACTTGCCAATTTATCTTTGATAACTGATTCAGAAAGATAAATGAACCTTGTGACTTTACATATGAGAATATGTACATATGTATATATATATTCTAAGAAGT... | TTTAATTACTTCATTGATGACAATGCCTTACTTTATTTATTGAAAAATGTTTCTTCCACTGAAAATACACTTCTAATTTTATAATGCAAGACAGTAGGGGAAAAAATAGGAGCCCATGTAAAAAAAAAAAATCCACTCTTAGAATCTGAAGTTATTGATCAGATATGCAATGACTTTTTTCTGCTGTGATGATAATCAAATCTTTTTTCTTAAGTACTGACTTGCCAATTTATCTTTGATAACTGATTCAGAAAGATAAATGAACCTTGTGACTTTACATATGAGAATATGTACATATGTATATATATATTCTAAGAAGT... | pathogenic | 134,558 |
Gene mutation in THAP1 (THAP domain containing 1) at chromosome 8, position 42839314—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Torsion_dystonia_6'] | GAAAATACACTTCTAATTTTATAATGCAAGACAGTAGGGGAAAAAATAGGAGCCCATGTAAAAAAAAAAAATCCACTCTTAGAATCTGAAGTTATTGATCAGATATGCAATGACTTTTTTCTGCTGTGATGATAATCAAATCTTTTTTCTTAAGTACTGACTTGCCAATTTATCTTTGATAACTGATTCAGAAAGATAAATGAACCTTGTGACTTTACATATGAGAATATGTACATATGTATATATATATTCTAAGAAGTTATGTCCCATGATCTGACCCATACTTCTGATTTAAAATATAACTAAATTCTCTCAATAAA... | GAAAATACACTTCTAATTTTATAATGCAAGACAGTAGGGGAAAAAATAGGAGCCCATGTAAAAAAAAAAAATCCACTCTTAGAATCTGAAGTTATTGATCAGATATGCAATGACTTTTTTCTGCTGTGATGATAATCAAATCTTTTTTCTTAAGTACTGACTTGCCAATTTATCTTTGATAACTGATTCAGAAAGATAAATGAACCTTGTGACTTTACATATGAGAATATGTACATATGTATATATATATTCTAAGAAGTTATGTCCCATGATCTGACCCATACTTCTGATTTAAAATATAACTAAATTCTCTCAATAAA... | pathogenic | 134,559 |
Is the variant located on chromosome 8 at position 42843092, gene THAP1 (THAP domain containing 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Torsion_dystonia_6'] | TGGTAAAATTCAGTACCTATGGCCTCCTGGCTCTGTAAGTATAAACTATGGTAGCATTTGCTGGTAAAATTCAGTACCTAGGGCCTCCTGGCTCAAGGACAACAAATTTACAGCTGTTTGTGAGATTCTCTTAAGATCTTTCCCATCTACTCTCCCTAAACCTGCTATTTTAGATAAGGGATAAGATGCAGGTTAGCCCTTCTTTTGATTCAATCCATATCTGCTTAACATCTAGCAGAAACAGTTGTATCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTACCCAAGCTGGAGTGCAGGGCAA... | TGGTAAAATTCAGTACCTATGGCCTCCTGGCTCTGTAAGTATAAACTATGGTAGCATTTGCTGGTAAAATTCAGTACCTAGGGCCTCCTGGCTCAAGGACAACAAATTTACAGCTGTTTGTGAGATTCTCTTAAGATCTTTCCCATCTACTCTCCCTAAACCTGCTATTTTAGATAAGGGATAAGATGCAGGTTAGCCCTTCTTTTGATTCAATCCATATCTGCTTAACATCTAGCAGAAACAGTTGTATCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTACCCAAGCTGGAGTGCAGGGCAA... | pathogenic | 134,566 |
Variant at chromosome position 43103585, chromosome 8, gene POMK (protein O-mannose kinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Limb-girdle_muscular_dystrophy_due_to_POMK_deficiency', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_12'] | GGGGCCAAGATCTAGTCTGGACTGCAAAGTGGTCCTCTTTCCTTGGAGACTACCAGGTTAACATAGATGTGCAGGATTATCTCCAGAAACTCCTTATCTGAAGGTCTGCCCTGTTTGGGAACTGAGGTTGCTTCTGTGTGTCAGAGTGACTTTGATCCTCCAGGAAAGCATGGGATGTTTTATCCCAACTGATAAGACTTCAAACTGCAAAATTTCTGGTAGTCTGTGATTGTAGAGAACAGAATTTCTAGGTAGTAAAAAAGGAGTCTTCATCCAAAGGGGGTTTTTGACACTTTATGGCTGCAGTGTGTTCTAAGGAG... | GGGGCCAAGATCTAGTCTGGACTGCAAAGTGGTCCTCTTTCCTTGGAGACTACCAGGTTAACATAGATGTGCAGGATTATCTCCAGAAACTCCTTATCTGAAGGTCTGCCCTGTTTGGGAACTGAGGTTGCTTCTGTGTGTCAGAGTGACTTTGATCCTCCAGGAAAGCATGGGATGTTTTATCCCAACTGATAAGACTTCAAACTGCAAAATTTCTGGTAGTCTGTGATTGTAGAGAACAGAATTTCTAGGTAGTAAAAAAGGAGTCTTCATCCAAAGGGGGTTTTTGACACTTTATGGCTGCAGTGTGTTCTAAGGAG... | pathogenic | 134,578 |
Does the variant on chromosome 8 at location 43122205 affecting gene POMK (protein O-mannose kinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Limb-girdle_muscular_dystrophy_due_to_POMK_deficiency', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_12'] | ATGCAGTTGGAACAATATTATACAAATGGTTTTGTATACTTCTCATTTGTAACATTGCTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTCACCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCTCTGCAACCTCCACCTCCTGGGGTTCAAGCTACTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGGTTTTAGGTTTTAGGTTTCGTCATGTTGGCTAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCT... | ATGCAGTTGGAACAATATTATACAAATGGTTTTGTATACTTCTCATTTGTAACATTGCTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTCACCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCTCTGCAACCTCCACCTCCTGGGGTTCAAGCTACTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGGTTTTAGGTTTTAGGTTTCGTCATGTTGGCTAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCT... | pathogenic | 134,586 |
Evaluate if the mutation on chromosome 8 at position 43122221 in POMK (protein O-mannose kinase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Limb-girdle_muscular_dystrophy_due_to_POMK_deficiency', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_12', 'POMK-related_disorder'] | ATTATACAAATGGTTTTGTATACTTCTCATTTGTAACATTGCTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTCACCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCTCTGCAACCTCCACCTCCTGGGGTTCAAGCTACTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGGTTTTAGGTTTTAGGTTTCGTCATGTTGGCTAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCTTCCAAAAGTGCTGGGA... | ATTATACAAATGGTTTTGTATACTTCTCATTTGTAACATTGCTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTCACCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCTCTGCAACCTCCACCTCCTGGGGTTCAAGCTACTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGGTTTTAGGTTTTAGGTTTCGTCATGTTGGCTAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCTTCCAAAAGTGCTGGGA... | pathogenic | 134,587 |
Mutation found at chromosome 8 position 43140481, gene HGSNAT: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GGGAAGGGAACCCAGAAGCCCAACATGCCAGCAAAAGGGTAAAGTTGTTTACCATTCGGACTTTTGGCCCCCTTCTCCGTGTACAAATTGGTAAAAAGCCTCAGGATTTTTGAGCTGTCCTTATCCCTCCCCTTGTTTCTTTTCTTTTCTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGATGTGGTCTTGGCTCACTGCAACCTCCGTTCAAACGATTCTCCTGCCTCAACCTCCTAAGTAGCTGGGAGTACAGGCAGGCACCACCACTGCTGGCTAATTTTTGTATTTTTAGTAGAG... | GGGAAGGGAACCCAGAAGCCCAACATGCCAGCAAAAGGGTAAAGTTGTTTACCATTCGGACTTTTGGCCCCCTTCTCCGTGTACAAATTGGTAAAAAGCCTCAGGATTTTTGAGCTGTCCTTATCCCTCCCCTTGTTTCTTTTCTTTTCTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGATGTGGTCTTGGCTCACTGCAACCTCCGTTCAAACGATTCTCCTGCCTCAACCTCCTAAGTAGCTGGGAGTACAGGCAGGCACCACCACTGCTGGCTAATTTTTGTATTTTTAGTAGAG... | benign | 134,607 |
Considering the genetic mutation at chromosome 8, position 43140560, impacting HGSNAT: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis,_MPS-III-C', 'Retinitis_pigmentosa_73'] | TGTACAAATTGGTAAAAAGCCTCAGGATTTTTGAGCTGTCCTTATCCCTCCCCTTGTTTCTTTTCTTTTCTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGATGTGGTCTTGGCTCACTGCAACCTCCGTTCAAACGATTCTCCTGCCTCAACCTCCTAAGTAGCTGGGAGTACAGGCAGGCACCACCACTGCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTGCCAGGCTGGAGTGCAGTGGCATAATCTTGGCT... | TGTACAAATTGGTAAAAAGCCTCAGGATTTTTGAGCTGTCCTTATCCCTCCCCTTGTTTCTTTTCTTTTCTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGATGTGGTCTTGGCTCACTGCAACCTCCGTTCAAACGATTCTCCTGCCTCAACCTCCTAAGTAGCTGGGAGTACAGGCAGGCACCACCACTGCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTGCCAGGCTGGAGTGCAGTGGCATAATCTTGGCT... | pathogenic | 134,610 |
Located at chromosome 8 position 43140582, the variant affecting gene HGSNAT—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-C', 'Retinitis_pigmentosa_73'] | CAGGATTTTTGAGCTGTCCTTATCCCTCCCCTTGTTTCTTTTCTTTTCTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGATGTGGTCTTGGCTCACTGCAACCTCCGTTCAAACGATTCTCCTGCCTCAACCTCCTAAGTAGCTGGGAGTACAGGCAGGCACCACCACTGCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTGCCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAAACTCTGCCTCCCGG... | CAGGATTTTTGAGCTGTCCTTATCCCTCCCCTTGTTTCTTTTCTTTTCTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGATGTGGTCTTGGCTCACTGCAACCTCCGTTCAAACGATTCTCCTGCCTCAACCTCCTAAGTAGCTGGGAGTACAGGCAGGCACCACCACTGCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTGCCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAAACTCTGCCTCCCGG... | pathogenic | 134,611 |
Chromosome 8, position 43158610, gene HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-C', 'Retinitis_pigmentosa_73'] | TTACTGATTTTTAGTTTTATTCCATTGTGGTCAGAAAAGATAATTGATATGATTTTGATTTTTAAACTTTGTTTAGACTTGTTTGCTCCCTTTAGGTCTATTAATAATTCCTTTATATATTTAGTTGTTACAATGTTGGGTGCAAATATATTTATAACTGTTACATCTTCCTGCTGTATTAATCATTTTATATGGCCTTTTATATAATGGCCTTCTTTTTCTCTTTTTACAGTTTTTGGCTTAAAGTCTATGTCTTTTGTATTAGTACAGCTACTCTTGACCTTTTTTGTTTCCATTTTCATAGAATACCTTTTTCCATC... | TTACTGATTTTTAGTTTTATTCCATTGTGGTCAGAAAAGATAATTGATATGATTTTGATTTTTAAACTTTGTTTAGACTTGTTTGCTCCCTTTAGGTCTATTAATAATTCCTTTATATATTTAGTTGTTACAATGTTGGGTGCAAATATATTTATAACTGTTACATCTTCCTGCTGTATTAATCATTTTATATGGCCTTTTATATAATGGCCTTCTTTTTCTCTTTTTACAGTTTTTGGCTTAAAGTCTATGTCTTTTGTATTAGTACAGCTACTCTTGACCTTTTTTGTTTCCATTTTCATAGAATACCTTTTTCCATC... | pathogenic | 134,621 |
Clinical impact (benign or pathogenic) of the variant at chromosome 8, location 43161448, gene HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase): what disease(s) if pathogenic? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-C', 'Retinitis_pigmentosa_73'] | TGATGTGGTAAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGGGCCTGGCGATGCGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATGGCTTGAACCTGGGAGGCAGAAGTTGCAATGAGCCAAGATTGTACCACTGCACTGCAACCTGGGTGATAGAGCCAGACCTTGTCTCAAAAAAAATTATATGATATATCAATACATTCTCATAGTTTTTAGTTTAATTATGAAGCATTAATAAGCCAAAAATGTTAATGCAGTGGAAAGAAACTAGAAATAGGGTAATTGACTGTCAAATATCTCTCCT... | TGATGTGGTAAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGGGCCTGGCGATGCGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATGGCTTGAACCTGGGAGGCAGAAGTTGCAATGAGCCAAGATTGTACCACTGCACTGCAACCTGGGTGATAGAGCCAGACCTTGTCTCAAAAAAAATTATATGATATATCAATACATTCTCATAGTTTTTAGTTTAATTATGAAGCATTAATAAGCCAAAAATGTTAATGCAGTGGAAAGAAACTAGAAATAGGGTAATTGACTGTCAAATATCTCTCCT... | pathogenic | 134,630 |
Determine whether the variant at chromosome 8, position 43161468, in gene HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-III-C', 'Retinitis_pigmentosa_73'] | TCTACAAAAAATACAAAAATTAGCTGGGCCTGGCGATGCGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATGGCTTGAACCTGGGAGGCAGAAGTTGCAATGAGCCAAGATTGTACCACTGCACTGCAACCTGGGTGATAGAGCCAGACCTTGTCTCAAAAAAAATTATATGATATATCAATACATTCTCATAGTTTTTAGTTTAATTATGAAGCATTAATAAGCCAAAAATGTTAATGCAGTGGAAAGAAACTAGAAATAGGGTAATTGACTGTCAAATATCTCTCCTTGTTTTAGGAGTGAGCGTAT... | TCTACAAAAAATACAAAAATTAGCTGGGCCTGGCGATGCGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATGGCTTGAACCTGGGAGGCAGAAGTTGCAATGAGCCAAGATTGTACCACTGCACTGCAACCTGGGTGATAGAGCCAGACCTTGTCTCAAAAAAAATTATATGATATATCAATACATTCTCATAGTTTTTAGTTTAATTATGAAGCATTAATAAGCCAAAAATGTTAATGCAGTGGAAAGAAACTAGAAATAGGGTAATTGACTGTCAAATATCTCTCCTTGTTTTAGGAGTGAGCGTAT... | pathogenic | 134,632 |
The genetic variant at chromosome 8, position 43170648, affecting gene HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-C', 'Retinitis_pigmentosa_73'] | TTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCCCCCAAAGTGCTGGGATTACAGGCAAGAGCCACCATGCCTGGCCTAATAATTTATATCTTCATCTTAATGTTTCTTTGTGTGGGCAGAGCCCACATTCTTTTGCTTTCATGACTGTATCACATCCTATCACACAGCTGTCATATTCTGTGTTTAGTCATCCTTGTTTTGAGTAAATTTGGTTGTTTCCAAGTTTTTGCTATTTTAATTTTAATAGTATTATTAGTGAGAATCCCAGCCACGGGGAATAGTTACCTCATTTACCTTCT... | TTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCCCCCAAAGTGCTGGGATTACAGGCAAGAGCCACCATGCCTGGCCTAATAATTTATATCTTCATCTTAATGTTTCTTTGTGTGGGCAGAGCCCACATTCTTTTGCTTTCATGACTGTATCACATCCTATCACACAGCTGTCATATTCTGTGTTTAGTCATCCTTGTTTTGAGTAAATTTGGTTGTTTCCAAGTTTTTGCTATTTTAATTTTAATAGTATTATTAGTGAGAATCCCAGCCACGGGGAATAGTTACCTCATTTACCTTCT... | pathogenic | 134,639 |
Clinical impact (benign or pathogenic) of the variant at chromosome 8, location 43170689, gene HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase): what disease(s) if pathogenic? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-C', 'Retinitis_pigmentosa_73', 'Sanfilippo_syndrome'] | CCCACCTCGGCCCCCCAAAGTGCTGGGATTACAGGCAAGAGCCACCATGCCTGGCCTAATAATTTATATCTTCATCTTAATGTTTCTTTGTGTGGGCAGAGCCCACATTCTTTTGCTTTCATGACTGTATCACATCCTATCACACAGCTGTCATATTCTGTGTTTAGTCATCCTTGTTTTGAGTAAATTTGGTTGTTTCCAAGTTTTTGCTATTTTAATTTTAATAGTATTATTAGTGAGAATCCCAGCCACGGGGAATAGTTACCTCATTTACCTTCTGAAGTCTTTAATGAAAGCTCTGTCATCATTCCTGTTTTATT... | CCCACCTCGGCCCCCCAAAGTGCTGGGATTACAGGCAAGAGCCACCATGCCTGGCCTAATAATTTATATCTTCATCTTAATGTTTCTTTGTGTGGGCAGAGCCCACATTCTTTTGCTTTCATGACTGTATCACATCCTATCACACAGCTGTCATATTCTGTGTTTAGTCATCCTTGTTTTGAGTAAATTTGGTTGTTTCCAAGTTTTTGCTATTTTAATTTTAATAGTATTATTAGTGAGAATCCCAGCCACGGGGAATAGTTACCTCATTTACCTTCTGAAGTCTTTAATGAAAGCTCTGTCATCATTCCTGTTTTATT... | pathogenic | 134,640 |
The mutation impacting HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase) on chromosome 8 at position 43191513: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis,_MPS-III-C', 'Retinitis_pigmentosa_73'] | TTTGTTAAGACCATTGGAAAAGTGCAGTATTAGTGTAGGAGTGTCCCGATTTTCCAGGTACCATCTGTCATGGCTTCCCTTGGCTAGGAAAGGGAATTATCCGACCTCTTGCACTTGGGGTGATGCTCCACCCTGCTCCGTGGGCTGTACCCACTGTCTGACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTTGGAAATGCAGAAATCATCTGTCTTCTGCGTCGCTCACACTGGGAGCTGTATACTGGAGCTGTTCCTATTCGGCCATCTTGGAACCTCCTCCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAG... | TTTGTTAAGACCATTGGAAAAGTGCAGTATTAGTGTAGGAGTGTCCCGATTTTCCAGGTACCATCTGTCATGGCTTCCCTTGGCTAGGAAAGGGAATTATCCGACCTCTTGCACTTGGGGTGATGCTCCACCCTGCTCCGTGGGCTGTACCCACTGTCTGACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTTGGAAATGCAGAAATCATCTGTCTTCTGCGTCGCTCACACTGGGAGCTGTATACTGGAGCTGTTCCTATTCGGCCATCTTGGAACCTCCTCCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAG... | pathogenic | 134,659 |
Clinical significance of chromosome 8, position 43192319, gene HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis,_MPS-III-C', 'Retinitis_pigmentosa_73', 'Sanfilippo_syndrome'] | AAATTCTTCCATTTGGGGTCCTATTCAACAATCAGTTAATAAAGCCGTGTTGTCTTCTAGCTTCTTTCAAGATACGTAACTAGCAAGTTCATCACTGAATCTCACTTTCTCTGGGTGCTTCCTACAATGTTAGTTATCTAGTTTGGGGGGCGTTTTAGTCATTGTTACTCTTTCCCCCTCTGCCCTTGTCATTAATGTGTCCTCTGGCTGTGGATTTCCTTAGGGTGAAGGACAGGCGAGACGTGCCTGAGTGGGCACAGAGCTTGGTCAGCCATGGATATGAAAGCTGCTATTTTCAGCCCTTCTGTGGGACCTGAGGG... | AAATTCTTCCATTTGGGGTCCTATTCAACAATCAGTTAATAAAGCCGTGTTGTCTTCTAGCTTCTTTCAAGATACGTAACTAGCAAGTTCATCACTGAATCTCACTTTCTCTGGGTGCTTCCTACAATGTTAGTTATCTAGTTTGGGGGGCGTTTTAGTCATTGTTACTCTTTCCCCCTCTGCCCTTGTCATTAATGTGTCCTCTGGCTGTGGATTTCCTTAGGGTGAAGGACAGGCGAGACGTGCCTGAGTGGGCACAGAGCTTGGTCAGCCATGGATATGAAAGCTGCTATTTTCAGCCCTTCTGTGGGACCTGAGGG... | pathogenic | 134,665 |
Variant in gene HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase), located at chromosome 8 position 43192397: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-C', 'Retinitis_pigmentosa_73'] | ACTAGCAAGTTCATCACTGAATCTCACTTTCTCTGGGTGCTTCCTACAATGTTAGTTATCTAGTTTGGGGGGCGTTTTAGTCATTGTTACTCTTTCCCCCTCTGCCCTTGTCATTAATGTGTCCTCTGGCTGTGGATTTCCTTAGGGTGAAGGACAGGCGAGACGTGCCTGAGTGGGCACAGAGCTTGGTCAGCCATGGATATGAAAGCTGCTATTTTCAGCCCTTCTGTGGGACCTGAGGGTCCGCGGAGGTGCATCCTGGGCCATCACCATAGGGTCAGGGGTTCAGTGGGACACTAAGAACAGGTGGGCTGCACCCT... | ACTAGCAAGTTCATCACTGAATCTCACTTTCTCTGGGTGCTTCCTACAATGTTAGTTATCTAGTTTGGGGGGCGTTTTAGTCATTGTTACTCTTTCCCCCTCTGCCCTTGTCATTAATGTGTCCTCTGGCTGTGGATTTCCTTAGGGTGAAGGACAGGCGAGACGTGCCTGAGTGGGCACAGAGCTTGGTCAGCCATGGATATGAAAGCTGCTATTTTCAGCCCTTCTGTGGGACCTGAGGGTCCGCGGAGGTGCATCCTGGGCCATCACCATAGGGTCAGGGGTTCAGTGGGACACTAAGAACAGGTGGGCTGCACCCT... | pathogenic | 134,668 |
Does the chromosome 8 mutation at position 43192400 within gene HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Mucopolysaccharidosis,_MPS-III-C', 'Retinitis_pigmentosa_73'] | AGCAAGTTCATCACTGAATCTCACTTTCTCTGGGTGCTTCCTACAATGTTAGTTATCTAGTTTGGGGGGCGTTTTAGTCATTGTTACTCTTTCCCCCTCTGCCCTTGTCATTAATGTGTCCTCTGGCTGTGGATTTCCTTAGGGTGAAGGACAGGCGAGACGTGCCTGAGTGGGCACAGAGCTTGGTCAGCCATGGATATGAAAGCTGCTATTTTCAGCCCTTCTGTGGGACCTGAGGGTCCGCGGAGGTGCATCCTGGGCCATCACCATAGGGTCAGGGGTTCAGTGGGACACTAAGAACAGGTGGGCTGCACCCTTTC... | AGCAAGTTCATCACTGAATCTCACTTTCTCTGGGTGCTTCCTACAATGTTAGTTATCTAGTTTGGGGGGCGTTTTAGTCATTGTTACTCTTTCCCCCTCTGCCCTTGTCATTAATGTGTCCTCTGGCTGTGGATTTCCTTAGGGTGAAGGACAGGCGAGACGTGCCTGAGTGGGCACAGAGCTTGGTCAGCCATGGATATGAAAGCTGCTATTTTCAGCCCTTCTGTGGGACCTGAGGGTCCGCGGAGGTGCATCCTGGGCCATCACCATAGGGTCAGGGGTTCAGTGGGACACTAAGAACAGGTGGGCTGCACCCTTTC... | pathogenic | 134,669 |
Considering the genetic mutation at chromosome 8, position 43193814, impacting HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis,_MPS-III-C', 'Retinitis_pigmentosa_73'] | TGTGGGTGGTGTGAGGGTCAGCTTGAATAGAATTCGGGCCTCCCACCTTCATAGTGTGGGAGCAGTTTGTCAGTGAGCGTGCATGAGCCAGAAGGACGTTTTAGCTGGCTCATGTTTGGGGCTCTCTGAATTGGGCTGCATACATAGCCAATATAAACCATGTTTTTTTTTTCTCTTTTTGGAGATGGAATCTTGCTCTGTCGCCCAGGCAGGAGTGCAGTGGCATGAACTCGGCTCACTGCAACCTGCGCCTCCCAGGTTCAAGCGATTCTCCTGCATTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACCACCAT... | TGTGGGTGGTGTGAGGGTCAGCTTGAATAGAATTCGGGCCTCCCACCTTCATAGTGTGGGAGCAGTTTGTCAGTGAGCGTGCATGAGCCAGAAGGACGTTTTAGCTGGCTCATGTTTGGGGCTCTCTGAATTGGGCTGCATACATAGCCAATATAAACCATGTTTTTTTTTTCTCTTTTTGGAGATGGAATCTTGCTCTGTCGCCCAGGCAGGAGTGCAGTGGCATGAACTCGGCTCACTGCAACCTGCGCCTCCCAGGTTCAAGCGATTCTCCTGCATTAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACCACCAT... | pathogenic | 134,673 |
Clinical classification of chromosome 8, position 47800996, gene PRKDC (protein kinase, DNA-activated, catalytic subunit): benign or pathogenic? Disease(s) if pathogenic? | benign | ACAGGCATGGGCCACCACGCCCAGCTAATTTTTTTGTATTCTTAGTAGAGTTGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACTGCACCCGGCTGCCATTGTCTCTTAAAAAGACAGTAGGATTTTCAAAATATTTGTAATTTGAAAACAAACAAAGAGGAGACCAAAGGTATGTACAAAATTCATAAGACTTTATGCTGACATAATGGAACACTAGCTTTTTAATTTTCAATTCACCTGATGCATTCTCTTCCTCCTTGCGCAGCTGTTGGTCACAGAAATCTGCCAGCGTCAT... | ACAGGCATGGGCCACCACGCCCAGCTAATTTTTTTGTATTCTTAGTAGAGTTGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACTGCACCCGGCTGCCATTGTCTCTTAAAAAGACAGTAGGATTTTCAAAATATTTGTAATTTGAAAACAAACAAAGAGGAGACCAAAGGTATGTACAAAATTCATAAGACTTTATGCTGACATAATGGAACACTAGCTTTTTAATTTTCAATTCACCTGATGCATTCTCTTCCTCCTTGCGCAGCTGTTGGTCACAGAAATCTGCCAGCGTCAT... | benign | 134,746 |
The genetic variant at chromosome 8, position 47819513, affecting gene PRKDC (protein kinase, DNA-activated, catalytic subunit): benign or pathogenic? Disease name(s) if pathogenic? | benign | TCATCCCAGATGTTCATTGGGTCCATTTTAGCATCTGGATATCTGTTTGTCCAGGTGTTCAGAAGTCTCTTAAGGGGAACTTGAGATGATAAATTGCCTAAAAATAGTATTAGAGGGTGACTATACACACAGCTCAATTATAAGATCAAATGACAAAGGTCATTATCAGTAAATAGAAAATTCAAACTTCCTGCCCAAATTACAAAAAAGTCCTTTCTTTTACAAAAGGAACACAAAGTTACCATACTAAATTTAATATATTCTGACATTTAAACTCAATTGCTTAAGGACAGAGAATAAAGATGGAGAAATAAACATGC... | TCATCCCAGATGTTCATTGGGTCCATTTTAGCATCTGGATATCTGTTTGTCCAGGTGTTCAGAAGTCTCTTAAGGGGAACTTGAGATGATAAATTGCCTAAAAATAGTATTAGAGGGTGACTATACACACAGCTCAATTATAAGATCAAATGACAAAGGTCATTATCAGTAAATAGAAAATTCAAACTTCCTGCCCAAATTACAAAAAAGTCCTTTCTTTTACAAAAGGAACACAAAGTTACCATACTAAATTTAATATATTCTGACATTTAAACTCAATTGCTTAAGGACAGAGAATAAAGATGGAGAAATAAACATGC... | benign | 134,753 |
Chromosome 8, position 47819513, gene PRKDC (protein kinase, DNA-activated, catalytic subunit): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TCATCCCAGATGTTCATTGGGTCCATTTTAGCATCTGGATATCTGTTTGTCCAGGTGTTCAGAAGTCTCTTAAGGGGAACTTGAGATGATAAATTGCCTAAAAATAGTATTAGAGGGTGACTATACACACAGCTCAATTATAAGATCAAATGACAAAGGTCATTATCAGTAAATAGAAAATTCAAACTTCCTGCCCAAATTACAAAAAAGTCCTTTCTTTTACAAAAGGAACACAAAGTTACCATACTAAATTTAATATATTCTGACATTTAAACTCAATTGCTTAAGGACAGAGAATAAAGATGGAGAAATAAACATGC... | TCATCCCAGATGTTCATTGGGTCCATTTTAGCATCTGGATATCTGTTTGTCCAGGTGTTCAGAAGTCTCTTAAGGGGAACTTGAGATGATAAATTGCCTAAAAATAGTATTAGAGGGTGACTATACACACAGCTCAATTATAAGATCAAATGACAAAGGTCATTATCAGTAAATAGAAAATTCAAACTTCCTGCCCAAATTACAAAAAAGTCCTTTCTTTTACAAAAGGAACACAAAGTTACCATACTAAATTTAATATATTCTGACATTTAAACTCAATTGCTTAAGGACAGAGAATAAAGATGGAGAAATAAACATGC... | benign | 134,754 |
Is chromosome 8, position 47858853, gene PRKDC (protein kinase, DNA-activated, catalytic subunit) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GCAGGAGTCCTCAGAGCCTCCCATTCAGGGTTGGTTGAAATTCAGTTTACACATAGTTTTAATAAATTTGCAATCTCATTTCTAAGGCAAGTAAAGGCAGCAAACAAAACAAAACAAACACCTGACAGCTTCATAATAAAAGCAAGGTCAGACGAATTACCAAAGGCAAAGGAAACAAAACAAAACCAAAGCAGGCTGAGGCCATTTGGTTTAGGAGCACACCAGCAATGTAGCAACAAATGCTGAAAACCATAGCACAGTCAGTGAGAGGGACCTGAATTATGTGTCATAGGCTCTATAGGCTATTGGCAAAGGATAAT... | GCAGGAGTCCTCAGAGCCTCCCATTCAGGGTTGGTTGAAATTCAGTTTACACATAGTTTTAATAAATTTGCAATCTCATTTCTAAGGCAAGTAAAGGCAGCAAACAAAACAAAACAAACACCTGACAGCTTCATAATAAAAGCAAGGTCAGACGAATTACCAAAGGCAAAGGAAACAAAACAAAACCAAAGCAGGCTGAGGCCATTTGGTTTAGGAGCACACCAGCAATGTAGCAACAAATGCTGAAAACCATAGCACAGTCAGTGAGAGGGACCTGAATTATGTGTCATAGGCTCTATAGGCTATTGGCAAAGGATAAT... | benign | 134,790 |
Benign or pathogenic: chromosome 8, position 47927900, gene PRKDC (protein kinase, DNA-activated, catalytic subunit) variant? Disease(s) if pathogenic? | benign | ACATGGAGTTCTTTTTACTGTTCCTGCAATTGTTCTGGAAGTTTGATACATCAAAAAAAGTTATTAAAACACTAACTTCTGTCTCTAACATGATAGATTTTGTTTTGTCACCTAATTTTGCTTACTTTCTGCTTTTCTCAATTATCGAATCATCTAGATAGGGTACATGTTTAACAGGCAAATCCTTTAAAACAATCACAGTAACTTCCTTTACTAATCTAAAACTTTTCAATGAGTTAACAGAACTCAAAAAAGAAAATTAAATACTATAAAGATATATGCTATCAGATATATTCATTTTACTAAGTGATGTATTTGTC... | ACATGGAGTTCTTTTTACTGTTCCTGCAATTGTTCTGGAAGTTTGATACATCAAAAAAAGTTATTAAAACACTAACTTCTGTCTCTAACATGATAGATTTTGTTTTGTCACCTAATTTTGCTTACTTTCTGCTTTTCTCAATTATCGAATCATCTAGATAGGGTACATGTTTAACAGGCAAATCCTTTAAAACAATCACAGTAACTTCCTTTACTAATCTAAAACTTTTCAATGAGTTAACAGAACTCAAAAAAGAAAATTAAATACTATAAAGATATATGCTATCAGATATATTCATTTTACTAAGTGATGTATTTGTC... | benign | 134,907 |
Variant in PRKDC (protein kinase, DNA-activated, catalytic subunit), chromosome 8, position 47955957—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TTTTTCTAAAACTGAAAAGAAAATTTTAGACAAGTGAAGGCCTCAAACTACATTTAAATAAGTTAAACTAACCAAAATGTATGAAGAAAATAAAATAAAATAAAGTTCAAAATTGATTTTACAGTAAGAGATATAAAATATAAAGCTTTTAGGACTGCATTCTTTCCTAAGTTTTATGCAAATGTATTAATCATATTTGTCATATCTTGTGAGTTTTCTATTTACAGGAATAATTTTGTAAAAATTAACATTTTTGTGAAGGGAAGTCTTCACATGTTGTTTTTGTTTGGTTCCATTTTGGTTTATTTTCAGCAAAAAGT... | TTTTTCTAAAACTGAAAAGAAAATTTTAGACAAGTGAAGGCCTCAAACTACATTTAAATAAGTTAAACTAACCAAAATGTATGAAGAAAATAAAATAAAATAAAGTTCAAAATTGATTTTACAGTAAGAGATATAAAATATAAAGCTTTTAGGACTGCATTCTTTCCTAAGTTTTATGCAAATGTATTAATCATATTTGTCATATCTTGTGAGTTTTCTATTTACAGGAATAATTTTGTAAAAATTAACATTTTTGTGAAGGGAAGTCTTCACATGTTGTTTTTGTTTGGTTCCATTTTGGTTTATTTTCAGCAAAAAGT... | benign | 134,994 |
Determine if the mutation at chromosome 8, position 54621100 in gene RP1 (RP1 axonemal microtubule associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic | GTTGACCAGATGAGGATGAGAAGAGGTTGCAGTTTTGCTGACTCCATTGCGAAGCTGGATTCCCCAGCTCCTGATGCACATGTCTGCTACAGCTGCTATTTTTTTGGCTTAAGTATTATAATTACTTTAAACCTCTGAGGAAGAAGGAAGGGAAGACATCTAATTTCTAGGCTGATCTTCAAATGTTTTTTTTTCTAAGTTACATTTAAATAAGATTTGCAAATCAGATTGGAGATATATGAAGAATCTTGGACAACAGCTTGCAAACATTTAAGTAGATAATTTGGGCCAGGTTTATAGCTGATTTACAATGATAAACA... | GTTGACCAGATGAGGATGAGAAGAGGTTGCAGTTTTGCTGACTCCATTGCGAAGCTGGATTCCCCAGCTCCTGATGCACATGTCTGCTACAGCTGCTATTTTTTTGGCTTAAGTATTATAATTACTTTAAACCTCTGAGGAAGAAGGAAGGGAAGACATCTAATTTCTAGGCTGATCTTCAAATGTTTTTTTTTCTAAGTTACATTTAAATAAGATTTGCAAATCAGATTGGAGATATATGAAGAATCTTGGACAACAGCTTGCAAACATTTAAGTAGATAATTTGGGCCAGGTTTATAGCTGATTTACAATGATAAACA... | pathogenic | 135,108 |
Does the chromosome 8 mutation at position 54621418 within gene RP1 (RP1 axonemal microtubule associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Inborn_genetic_diseases', 'RP1-related_disorder'] | CATGCCTTTTTCCATCTCTGTATTACCAATCACATTAATTTTGTTTGTTCAATTTGTCTTCAAGGCTGCAGGACTTTCTTACTGTGTCAAAAGACACTAATAATTAAAATGATTTCAAACAATAGAAAACAGCCACAAATGAAAACAAGGCCAGAACCAGATAAATCCTTCCACATGCTGCTCATTTGTCAGTCAAACTCCAGTTTCACTGAGAAGTGGAAAAGGAAAACCTTAGTGCTTTGCTGAAAATTACTCTTCTTGAATTCTCTCCTGAAGGTTTAACTTTAGAACTACTAGTGGGACCAGTAACCAGACTGCAC... | CATGCCTTTTTCCATCTCTGTATTACCAATCACATTAATTTTGTTTGTTCAATTTGTCTTCAAGGCTGCAGGACTTTCTTACTGTGTCAAAAGACACTAATAATTAAAATGATTTCAAACAATAGAAAACAGCCACAAATGAAAACAAGGCCAGAACCAGATAAATCCTTCCACATGCTGCTCATTTGTCAGTCAAACTCCAGTTTCACTGAGAAGTGGAAAAGGAAAACCTTAGTGCTTTGCTGAAAATTACTCTTCTTGAATTCTCTCCTGAAGGTTTAACTTTAGAACTACTAGTGGGACCAGTAACCAGACTGCAC... | pathogenic | 135,110 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 8, position 54622167, gene RP1 (RP1 axonemal microtubule associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['RP1-related_recessive_retinopathy', 'Retinal_dystrophy', 'Retinitis_pigmentosa_1'] | ATCCAGAATTCTGCAATCCAGAGATAACCACCATCAACACTGGGTTGTATATATTTCTGGACTTTTCCCCAATTCATATAACTCAGTCATGTGCCACATAACACTACTTTGGTCAATGGTGGACTACCTATATGATGGTGGCCCCATAAGATTATAATACCATATTTTGACTATACCTTTTCTATGTTTAGATATGTTTAGATAACAAATTACCACTGTATTACAATGCCCTACGGTATTCAAACAGTAACATGCTGTACAGATTTATAGCCTAGGAGGAATAGGTTATTCCATAAAGCCTGGGTGTGTAGTAGGCTATA... | ATCCAGAATTCTGCAATCCAGAGATAACCACCATCAACACTGGGTTGTATATATTTCTGGACTTTTCCCCAATTCATATAACTCAGTCATGTGCCACATAACACTACTTTGGTCAATGGTGGACTACCTATATGATGGTGGCCCCATAAGATTATAATACCATATTTTGACTATACCTTTTCTATGTTTAGATATGTTTAGATAACAAATTACCACTGTATTACAATGCCCTACGGTATTCAAACAGTAACATGCTGTACAGATTTATAGCCTAGGAGGAATAGGTTATTCCATAAAGCCTGGGTGTGTAGTAGGCTATA... | pathogenic | 135,119 |
The mutation in gene RP1 (RP1 axonemal microtubule associated) at chromosome 8, position 54625113—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_1'] | GTATTAATCTCTCTACTTATTGCTAATGTGGGTGAAACTAATCCATTGTTGTTTAATGATTTCATGGATATATTCAATAGATAATTATTAATGCTTCTATTTTGTAAGCATTAGGTTGCCACATATATGTTATAAATATGGTAGTGCTATTTCACGTTTGTCATTTTACTAAAATGATTTTATTATCTTATGTCTGATACAGATTGCCGAGTATGGTTTCTGATGACTGCAGGGAATCTGAGGGCTTTGTTAAGTTTTCTTCAAAAATTTGAGACACTTTGATTTACAATTTAAGTAAAAGCATATCAAAAATAAGAAAA... | GTATTAATCTCTCTACTTATTGCTAATGTGGGTGAAACTAATCCATTGTTGTTTAATGATTTCATGGATATATTCAATAGATAATTATTAATGCTTCTATTTTGTAAGCATTAGGTTGCCACATATATGTTATAAATATGGTAGTGCTATTTCACGTTTGTCATTTTACTAAAATGATTTTATTATCTTATGTCTGATACAGATTGCCGAGTATGGTTTCTGATGACTGCAGGGAATCTGAGGGCTTTGTTAAGTTTTCTTCAAAAATTTGAGACACTTTGATTTACAATTTAAGTAAAAGCATATCAAAAATAAGAAAA... | pathogenic | 135,127 |
The mutation in gene RP1 (RP1 axonemal microtubule associated) at chromosome 8, position 54625146—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa'] | GAAACTAATCCATTGTTGTTTAATGATTTCATGGATATATTCAATAGATAATTATTAATGCTTCTATTTTGTAAGCATTAGGTTGCCACATATATGTTATAAATATGGTAGTGCTATTTCACGTTTGTCATTTTACTAAAATGATTTTATTATCTTATGTCTGATACAGATTGCCGAGTATGGTTTCTGATGACTGCAGGGAATCTGAGGGCTTTGTTAAGTTTTCTTCAAAAATTTGAGACACTTTGATTTACAATTTAAGTAAAAGCATATCAAAAATAAGAAAAAATATTTCTAGGTTTATACTCTGCAACATTAAA... | GAAACTAATCCATTGTTGTTTAATGATTTCATGGATATATTCAATAGATAATTATTAATGCTTCTATTTTGTAAGCATTAGGTTGCCACATATATGTTATAAATATGGTAGTGCTATTTCACGTTTGTCATTTTACTAAAATGATTTTATTATCTTATGTCTGATACAGATTGCCGAGTATGGTTTCTGATGACTGCAGGGAATCTGAGGGCTTTGTTAAGTTTTCTTCAAAAATTTGAGACACTTTGATTTACAATTTAAGTAAAAGCATATCAAAAATAAGAAAAAATATTTCTAGGTTTATACTCTGCAACATTAAA... | pathogenic | 135,128 |
Is the genetic variant on chromosome 8, position 54625343, gene RP1 (RP1 axonemal microtubule associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_1'] | AGGGAATCTGAGGGCTTTGTTAAGTTTTCTTCAAAAATTTGAGACACTTTGATTTACAATTTAAGTAAAAGCATATCAAAAATAAGAAAAAATATTTCTAGGTTTATACTCTGCAACATTAAAGGGGCTTACCTGATGGCAAGTATGTGCAAATCTATATAGATTTGCTAACAGGATTTTTTTTTTTTCTTTTTGAGATGGGGTCTCACTATGTTACCCAGGCTGTTATGATGGGCTCAAGTGATCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCATTGCGTCCAGCCCAGGCATTTTGACTGAA... | AGGGAATCTGAGGGCTTTGTTAAGTTTTCTTCAAAAATTTGAGACACTTTGATTTACAATTTAAGTAAAAGCATATCAAAAATAAGAAAAAATATTTCTAGGTTTATACTCTGCAACATTAAAGGGGCTTACCTGATGGCAAGTATGTGCAAATCTATATAGATTTGCTAACAGGATTTTTTTTTTTTCTTTTTGAGATGGGGTCTCACTATGTTACCCAGGCTGTTATGATGGGCTCAAGTGATCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCATTGCGTCCAGCCCAGGCATTTTGACTGAA... | pathogenic | 135,129 |
For chromosome 8, position 54625379, gene RP1 (RP1 axonemal microtubule associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_1'] | ATTTGAGACACTTTGATTTACAATTTAAGTAAAAGCATATCAAAAATAAGAAAAAATATTTCTAGGTTTATACTCTGCAACATTAAAGGGGCTTACCTGATGGCAAGTATGTGCAAATCTATATAGATTTGCTAACAGGATTTTTTTTTTTTCTTTTTGAGATGGGGTCTCACTATGTTACCCAGGCTGTTATGATGGGCTCAAGTGATCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCATTGCGTCCAGCCCAGGCATTTTGACTGAATTTAAGAAGCAAGAGTGCCAAGGTTAATGCTGAAGA... | ATTTGAGACACTTTGATTTACAATTTAAGTAAAAGCATATCAAAAATAAGAAAAAATATTTCTAGGTTTATACTCTGCAACATTAAAGGGGCTTACCTGATGGCAAGTATGTGCAAATCTATATAGATTTGCTAACAGGATTTTTTTTTTTTCTTTTTGAGATGGGGTCTCACTATGTTACCCAGGCTGTTATGATGGGCTCAAGTGATCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCATTGCGTCCAGCCCAGGCATTTTGACTGAATTTAAGAAGCAAGAGTGCCAAGGTTAATGCTGAAGA... | pathogenic | 135,131 |
Is chromosome 8, position 54625598, gene RP1 (RP1 axonemal microtubule associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_retinitis_pigmentosa', 'Retinal_dystrophy', 'Retinitis_pigmentosa'] | AGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCATTGCGTCCAGCCCAGGCATTTTGACTGAATTTAAGAAGCAAGAGTGCCAAGGTTAATGCTGAAGATACATGTTAAAAAGATAACTGATATCTGGACTTATGTCTAGCTCTGTTCTCTCTTGTGCCCTATATTAAGTCAGCTGCAACGATTATACAAAGTGCATGCTAAATAATTAGTACTTGATTAATTCAGTCTGAATCATAAAATGTTTCTGCTTTCATAAAGCTATGGATACCTGTTTTGATATGTGTAGGTGGGAAGATGAATACCATCATAAATTGTTG... | AGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCATTGCGTCCAGCCCAGGCATTTTGACTGAATTTAAGAAGCAAGAGTGCCAAGGTTAATGCTGAAGATACATGTTAAAAAGATAACTGATATCTGGACTTATGTCTAGCTCTGTTCTCTCTTGTGCCCTATATTAAGTCAGCTGCAACGATTATACAAAGTGCATGCTAAATAATTAGTACTTGATTAATTCAGTCTGAATCATAAAATGTTTCTGCTTTCATAAAGCTATGGATACCTGTTTTGATATGTGTAGGTGGGAAGATGAATACCATCATAAATTGTTG... | pathogenic | 135,133 |
Benign or pathogenic: chromosome 8, position 54625867, gene RP1 (RP1 axonemal microtubule associated) variant? Disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa'] | ACCTGTTTTGATATGTGTAGGTGGGAAGATGAATACCATCATAAATTGTTGGCTGCCTTGTTTGAATAGGTAAGCGGTATTTGGTTAGACTCCAGTTTCAGTACTGGTAAACAAAACAACGAAATGAAAACCCACAAAAAACTTTTATCTTTGGTAGAATTCTTAGCACTTTTTACTTTATACATTTTTAAAATTAAAATTACCTTATTAAACTTGTTAAAATTCTCTGAACCTCCACATTGAAATTGAGGTAGAATTAGAGATCTCTTCTAAAGAGTGGTTTGAAGAAATGTACCACTGTTATAGTAGGTTTTCTCAAA... | ACCTGTTTTGATATGTGTAGGTGGGAAGATGAATACCATCATAAATTGTTGGCTGCCTTGTTTGAATAGGTAAGCGGTATTTGGTTAGACTCCAGTTTCAGTACTGGTAAACAAAACAACGAAATGAAAACCCACAAAAAACTTTTATCTTTGGTAGAATTCTTAGCACTTTTTACTTTATACATTTTTAAAATTAAAATTACCTTATTAAACTTGTTAAAATTCTCTGAACCTCCACATTGAAATTGAGGTAGAATTAGAGATCTCTTCTAAAGAGTGGTTTGAAGAAATGTACCACTGTTATAGTAGGTTTTCTCAAA... | pathogenic | 135,136 |
A genetic variant on chromosome 8, position 54625892, affects the gene RP1 (RP1 axonemal microtubule associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Retinitis_pigmentosa_1'] | AAGATGAATACCATCATAAATTGTTGGCTGCCTTGTTTGAATAGGTAAGCGGTATTTGGTTAGACTCCAGTTTCAGTACTGGTAAACAAAACAACGAAATGAAAACCCACAAAAAACTTTTATCTTTGGTAGAATTCTTAGCACTTTTTACTTTATACATTTTTAAAATTAAAATTACCTTATTAAACTTGTTAAAATTCTCTGAACCTCCACATTGAAATTGAGGTAGAATTAGAGATCTCTTCTAAAGAGTGGTTTGAAGAAATGTACCACTGTTATAGTAGGTTTTCTCAAATAACTATTGGGAAAACACATAGGCT... | AAGATGAATACCATCATAAATTGTTGGCTGCCTTGTTTGAATAGGTAAGCGGTATTTGGTTAGACTCCAGTTTCAGTACTGGTAAACAAAACAACGAAATGAAAACCCACAAAAAACTTTTATCTTTGGTAGAATTCTTAGCACTTTTTACTTTATACATTTTTAAAATTAAAATTACCTTATTAAACTTGTTAAAATTCTCTGAACCTCCACATTGAAATTGAGGTAGAATTAGAGATCTCTTCTAAAGAGTGGTTTGAAGAAATGTACCACTGTTATAGTAGGTTTTCTCAAATAACTATTGGGAAAACACATAGGCT... | pathogenic | 135,137 |
Is the variant located on chromosome 8 at position 54625892, gene RP1 (RP1 axonemal microtubule associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Retinitis_pigmentosa_1'] | AAGATGAATACCATCATAAATTGTTGGCTGCCTTGTTTGAATAGGTAAGCGGTATTTGGTTAGACTCCAGTTTCAGTACTGGTAAACAAAACAACGAAATGAAAACCCACAAAAAACTTTTATCTTTGGTAGAATTCTTAGCACTTTTTACTTTATACATTTTTAAAATTAAAATTACCTTATTAAACTTGTTAAAATTCTCTGAACCTCCACATTGAAATTGAGGTAGAATTAGAGATCTCTTCTAAAGAGTGGTTTGAAGAAATGTACCACTGTTATAGTAGGTTTTCTCAAATAACTATTGGGAAAACACATAGGCT... | AAGATGAATACCATCATAAATTGTTGGCTGCCTTGTTTGAATAGGTAAGCGGTATTTGGTTAGACTCCAGTTTCAGTACTGGTAAACAAAACAACGAAATGAAAACCCACAAAAAACTTTTATCTTTGGTAGAATTCTTAGCACTTTTTACTTTATACATTTTTAAAATTAAAATTACCTTATTAAACTTGTTAAAATTCTCTGAACCTCCACATTGAAATTGAGGTAGAATTAGAGATCTCTTCTAAAGAGTGGTTTGAAGAAATGTACCACTGTTATAGTAGGTTTTCTCAAATAACTATTGGGAAAACACATAGGCT... | pathogenic | 135,138 |
Clinical impact (benign or pathogenic) of the variant at chromosome 8, location 54625901, gene RP1 (RP1 axonemal microtubule associated): what disease(s) if pathogenic? | pathogenic; ['RP1-related_recessive_retinopathy'] | ACCATCATAAATTGTTGGCTGCCTTGTTTGAATAGGTAAGCGGTATTTGGTTAGACTCCAGTTTCAGTACTGGTAAACAAAACAACGAAATGAAAACCCACAAAAAACTTTTATCTTTGGTAGAATTCTTAGCACTTTTTACTTTATACATTTTTAAAATTAAAATTACCTTATTAAACTTGTTAAAATTCTCTGAACCTCCACATTGAAATTGAGGTAGAATTAGAGATCTCTTCTAAAGAGTGGTTTGAAGAAATGTACCACTGTTATAGTAGGTTTTCTCAAATAACTATTGGGAAAACACATAGGCTGAGCGTGGT... | ACCATCATAAATTGTTGGCTGCCTTGTTTGAATAGGTAAGCGGTATTTGGTTAGACTCCAGTTTCAGTACTGGTAAACAAAACAACGAAATGAAAACCCACAAAAAACTTTTATCTTTGGTAGAATTCTTAGCACTTTTTACTTTATACATTTTTAAAATTAAAATTACCTTATTAAACTTGTTAAAATTCTCTGAACCTCCACATTGAAATTGAGGTAGAATTAGAGATCTCTTCTAAAGAGTGGTTTGAAGAAATGTACCACTGTTATAGTAGGTTTTCTCAAATAACTATTGGGAAAACACATAGGCTGAGCGTGGT... | pathogenic | 135,139 |
Gene RP1 (RP1 axonemal microtubule associated) variant at chromosome position 54625984 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinal_dystrophy'] | AACGAAATGAAAACCCACAAAAAACTTTTATCTTTGGTAGAATTCTTAGCACTTTTTACTTTATACATTTTTAAAATTAAAATTACCTTATTAAACTTGTTAAAATTCTCTGAACCTCCACATTGAAATTGAGGTAGAATTAGAGATCTCTTCTAAAGAGTGGTTTGAAGAAATGTACCACTGTTATAGTAGGTTTTCTCAAATAACTATTGGGAAAACACATAGGCTGAGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGACGAGACCATCCTGGCC... | AACGAAATGAAAACCCACAAAAAACTTTTATCTTTGGTAGAATTCTTAGCACTTTTTACTTTATACATTTTTAAAATTAAAATTACCTTATTAAACTTGTTAAAATTCTCTGAACCTCCACATTGAAATTGAGGTAGAATTAGAGATCTCTTCTAAAGAGTGGTTTGAAGAAATGTACCACTGTTATAGTAGGTTTTCTCAAATAACTATTGGGAAAACACATAGGCTGAGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGACGAGACCATCCTGGCC... | pathogenic | 135,143 |
Determine whether the variant at chromosome 8, position 54625987, in gene RP1 (RP1 axonemal microtubule associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_1'] | GAAATGAAAACCCACAAAAAACTTTTATCTTTGGTAGAATTCTTAGCACTTTTTACTTTATACATTTTTAAAATTAAAATTACCTTATTAAACTTGTTAAAATTCTCTGAACCTCCACATTGAAATTGAGGTAGAATTAGAGATCTCTTCTAAAGAGTGGTTTGAAGAAATGTACCACTGTTATAGTAGGTTTTCTCAAATAACTATTGGGAAAACACATAGGCTGAGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGACGAGACCATCCTGGCCAAC... | GAAATGAAAACCCACAAAAAACTTTTATCTTTGGTAGAATTCTTAGCACTTTTTACTTTATACATTTTTAAAATTAAAATTACCTTATTAAACTTGTTAAAATTCTCTGAACCTCCACATTGAAATTGAGGTAGAATTAGAGATCTCTTCTAAAGAGTGGTTTGAAGAAATGTACCACTGTTATAGTAGGTTTTCTCAAATAACTATTGGGAAAACACATAGGCTGAGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGACGAGACCATCCTGGCCAAC... | pathogenic | 135,144 |
Mutation at chromosome 8, position 54626039, within RP1 (RP1 axonemal microtubule associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_1'] | TTACTTTATACATTTTTAAAATTAAAATTACCTTATTAAACTTGTTAAAATTCTCTGAACCTCCACATTGAAATTGAGGTAGAATTAGAGATCTCTTCTAAAGAGTGGTTTGAAGAAATGTACCACTGTTATAGTAGGTTTTCTCAAATAACTATTGGGAAAACACATAGGCTGAGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGACGAGACCATCCTGGCCAACATGGTGAAAACCTGTCTCGATTAAAAATACAAAACAATTAGCTGGGCATGGT... | TTACTTTATACATTTTTAAAATTAAAATTACCTTATTAAACTTGTTAAAATTCTCTGAACCTCCACATTGAAATTGAGGTAGAATTAGAGATCTCTTCTAAAGAGTGGTTTGAAGAAATGTACCACTGTTATAGTAGGTTTTCTCAAATAACTATTGGGAAAACACATAGGCTGAGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGACGAGACCATCCTGGCCAACATGGTGAAAACCTGTCTCGATTAAAAATACAAAACAATTAGCTGGGCATGGT... | pathogenic | 135,147 |
Assess the variant on chromosome 8, position 54626065, impacting RP1 (RP1 axonemal microtubule associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Retinitis_pigmentosa_1'] | ATTACCTTATTAAACTTGTTAAAATTCTCTGAACCTCCACATTGAAATTGAGGTAGAATTAGAGATCTCTTCTAAAGAGTGGTTTGAAGAAATGTACCACTGTTATAGTAGGTTTTCTCAAATAACTATTGGGAAAACACATAGGCTGAGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGACGAGACCATCCTGGCCAACATGGTGAAAACCTGTCTCGATTAAAAATACAAAACAATTAGCTGGGCATGGTGGTGCGGGCCTGTAGTCCCAGCTATT... | ATTACCTTATTAAACTTGTTAAAATTCTCTGAACCTCCACATTGAAATTGAGGTAGAATTAGAGATCTCTTCTAAAGAGTGGTTTGAAGAAATGTACCACTGTTATAGTAGGTTTTCTCAAATAACTATTGGGAAAACACATAGGCTGAGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGACGAGACCATCCTGGCCAACATGGTGAAAACCTGTCTCGATTAAAAATACAAAACAATTAGCTGGGCATGGTGGTGCGGGCCTGTAGTCCCAGCTATT... | pathogenic | 135,149 |
Evaluate this variant at chromosome 8, position 54626078, gene RP1 (RP1 axonemal microtubule associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Retinal_dystrophy'] | ACTTGTTAAAATTCTCTGAACCTCCACATTGAAATTGAGGTAGAATTAGAGATCTCTTCTAAAGAGTGGTTTGAAGAAATGTACCACTGTTATAGTAGGTTTTCTCAAATAACTATTGGGAAAACACATAGGCTGAGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGACGAGACCATCCTGGCCAACATGGTGAAAACCTGTCTCGATTAAAAATACAAAACAATTAGCTGGGCATGGTGGTGCGGGCCTGTAGTCCCAGCTATTCGGGATGCTGAAG... | ACTTGTTAAAATTCTCTGAACCTCCACATTGAAATTGAGGTAGAATTAGAGATCTCTTCTAAAGAGTGGTTTGAAGAAATGTACCACTGTTATAGTAGGTTTTCTCAAATAACTATTGGGAAAACACATAGGCTGAGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGACGAGACCATCCTGGCCAACATGGTGAAAACCTGTCTCGATTAAAAATACAAAACAATTAGCTGGGCATGGTGGTGCGGGCCTGTAGTCCCAGCTATTCGGGATGCTGAAG... | pathogenic | 135,151 |
Mutation at chromosome 8, position 54626161, within RP1 (RP1 axonemal microtubule associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_1'] | CCACTGTTATAGTAGGTTTTCTCAAATAACTATTGGGAAAACACATAGGCTGAGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGACGAGACCATCCTGGCCAACATGGTGAAAACCTGTCTCGATTAAAAATACAAAACAATTAGCTGGGCATGGTGGTGCGGGCCTGTAGTCCCAGCTATTCGGGATGCTGAAGCAGGAGAATTGCTTGAACCCTGGAGGTGGAGGTAGCAGTGAGCCCAGATCACGCCACTGCATTCCAGCCTGGTGACAGAGCGA... | CCACTGTTATAGTAGGTTTTCTCAAATAACTATTGGGAAAACACATAGGCTGAGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGACGAGACCATCCTGGCCAACATGGTGAAAACCTGTCTCGATTAAAAATACAAAACAATTAGCTGGGCATGGTGGTGCGGGCCTGTAGTCCCAGCTATTCGGGATGCTGAAGCAGGAGAATTGCTTGAACCCTGGAGGTGGAGGTAGCAGTGAGCCCAGATCACGCCACTGCATTCCAGCCTGGTGACAGAGCGA... | pathogenic | 135,155 |
Is the chromosome 8, position 54626227 variant in RP1 (RP1 axonemal microtubule associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic | AGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGACGAGACCATCCTGGCCAACATGGTGAAAACCTGTCTCGATTAAAAATACAAAACAATTAGCTGGGCATGGTGGTGCGGGCCTGTAGTCCCAGCTATTCGGGATGCTGAAGCAGGAGAATTGCTTGAACCCTGGAGGTGGAGGTAGCAGTGAGCCCAGATCACGCCACTGCATTCCAGCCTGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAACAAAATACATAGAGCTCAGAAA... | AGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGACGAGACCATCCTGGCCAACATGGTGAAAACCTGTCTCGATTAAAAATACAAAACAATTAGCTGGGCATGGTGGTGCGGGCCTGTAGTCCCAGCTATTCGGGATGCTGAAGCAGGAGAATTGCTTGAACCCTGGAGGTGGAGGTAGCAGTGAGCCCAGATCACGCCACTGCATTCCAGCCTGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAACAAAATACATAGAGCTCAGAAA... | pathogenic | 135,159 |
The genetic variant at chromosome 8, position 54626271, affecting gene RP1 (RP1 axonemal microtubule associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic | TGAGGTCAGGAGATCGACGAGACCATCCTGGCCAACATGGTGAAAACCTGTCTCGATTAAAAATACAAAACAATTAGCTGGGCATGGTGGTGCGGGCCTGTAGTCCCAGCTATTCGGGATGCTGAAGCAGGAGAATTGCTTGAACCCTGGAGGTGGAGGTAGCAGTGAGCCCAGATCACGCCACTGCATTCCAGCCTGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAACAAAATACATAGAGCTCAGAAACATATCAGTAACATTTTACTATGAAATACAGAAAATATGCTACT... | TGAGGTCAGGAGATCGACGAGACCATCCTGGCCAACATGGTGAAAACCTGTCTCGATTAAAAATACAAAACAATTAGCTGGGCATGGTGGTGCGGGCCTGTAGTCCCAGCTATTCGGGATGCTGAAGCAGGAGAATTGCTTGAACCCTGGAGGTGGAGGTAGCAGTGAGCCCAGATCACGCCACTGCATTCCAGCCTGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAACAAAATACATAGAGCTCAGAAACATATCAGTAACATTTTACTATGAAATACAGAAAATATGCTACT... | pathogenic | 135,162 |
Is the genetic mutation found on chromosome 8 at position 54626452, within the gene RP1 (RP1 axonemal microtubule associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinal_dystrophy'] | CACTGCATTCCAGCCTGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAACAAAATACATAGAGCTCAGAAACATATCAGTAACATTTTACTATGAAATACAGAAAATATGCTACTTTTCATACTAATCATTTCCCCTTTTCTCTTTCTTTTTTTGCTGCCTCTTCCTTTGGATATTTCTAACTTCTCTGCCTTCCATATTATATTTTGATGTGGGCACCTTTTACTCTTAAAATCTTTAAAGTAAGCACACATATGTCTTCAAGCTCAAGGTCCCAGATTTATTCTGTTTCTTCTG... | CACTGCATTCCAGCCTGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAACAAAATACATAGAGCTCAGAAACATATCAGTAACATTTTACTATGAAATACAGAAAATATGCTACTTTTCATACTAATCATTTCCCCTTTTCTCTTTCTTTTTTTGCTGCCTCTTCCTTTGGATATTTCTAACTTCTCTGCCTTCCATATTATATTTTGATGTGGGCACCTTTTACTCTTAAAATCTTTAAAGTAAGCACACATATGTCTTCAAGCTCAAGGTCCCAGATTTATTCTGTTTCTTCTG... | pathogenic | 135,165 |
Is the genetic mutation found on chromosome 8 at position 54626489, within the gene RP1 (RP1 axonemal microtubule associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_1'] | CTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAACAAAATACATAGAGCTCAGAAACATATCAGTAACATTTTACTATGAAATACAGAAAATATGCTACTTTTCATACTAATCATTTCCCCTTTTCTCTTTCTTTTTTTGCTGCCTCTTCCTTTGGATATTTCTAACTTCTCTGCCTTCCATATTATATTTTGATGTGGGCACCTTTTACTCTTAAAATCTTTAAAGTAAGCACACATATGTCTTCAAGCTCAAGGTCCCAGATTTATTCTGTTTCTTCTGAGAAAACACATAATAATGATTGCTACTTAGACTATTC... | CTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAACAAAATACATAGAGCTCAGAAACATATCAGTAACATTTTACTATGAAATACAGAAAATATGCTACTTTTCATACTAATCATTTCCCCTTTTCTCTTTCTTTTTTTGCTGCCTCTTCCTTTGGATATTTCTAACTTCTCTGCCTTCCATATTATATTTTGATGTGGGCACCTTTTACTCTTAAAATCTTTAAAGTAAGCACACATATGTCTTCAAGCTCAAGGTCCCAGATTTATTCTGTTTCTTCTGAGAAAACACATAATAATGATTGCTACTTAGACTATTC... | pathogenic | 135,166 |
Determine whether the variant at chromosome 8, position 54626552, in gene RP1 (RP1 axonemal microtubule associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Retinal_dystrophy'] | CAGTAACATTTTACTATGAAATACAGAAAATATGCTACTTTTCATACTAATCATTTCCCCTTTTCTCTTTCTTTTTTTGCTGCCTCTTCCTTTGGATATTTCTAACTTCTCTGCCTTCCATATTATATTTTGATGTGGGCACCTTTTACTCTTAAAATCTTTAAAGTAAGCACACATATGTCTTCAAGCTCAAGGTCCCAGATTTATTCTGTTTCTTCTGAGAAAACACATAATAATGATTGCTACTTAGACTATTCTTTTGTTCCTGAAAAGTACTTGGCCTTAGAAAAGAATGATTCTCAGAATTTACCAATATATCC... | CAGTAACATTTTACTATGAAATACAGAAAATATGCTACTTTTCATACTAATCATTTCCCCTTTTCTCTTTCTTTTTTTGCTGCCTCTTCCTTTGGATATTTCTAACTTCTCTGCCTTCCATATTATATTTTGATGTGGGCACCTTTTACTCTTAAAATCTTTAAAGTAAGCACACATATGTCTTCAAGCTCAAGGTCCCAGATTTATTCTGTTTCTTCTGAGAAAACACATAATAATGATTGCTACTTAGACTATTCTTTTGTTCCTGAAAAGTACTTGGCCTTAGAAAAGAATGATTCTCAGAATTTACCAATATATCC... | pathogenic | 135,168 |
Is chromosome 8, position 54626576, gene RP1 (RP1 axonemal microtubule associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Retinitis_pigmentosa'] | AGAAAATATGCTACTTTTCATACTAATCATTTCCCCTTTTCTCTTTCTTTTTTTGCTGCCTCTTCCTTTGGATATTTCTAACTTCTCTGCCTTCCATATTATATTTTGATGTGGGCACCTTTTACTCTTAAAATCTTTAAAGTAAGCACACATATGTCTTCAAGCTCAAGGTCCCAGATTTATTCTGTTTCTTCTGAGAAAACACATAATAATGATTGCTACTTAGACTATTCTTTTGTTCCTGAAAAGTACTTGGCCTTAGAAAAGAATGATTCTCAGAATTTACCAATATATCCTTCTGAAGATGATATTGAGAAATC... | AGAAAATATGCTACTTTTCATACTAATCATTTCCCCTTTTCTCTTTCTTTTTTTGCTGCCTCTTCCTTTGGATATTTCTAACTTCTCTGCCTTCCATATTATATTTTGATGTGGGCACCTTTTACTCTTAAAATCTTTAAAGTAAGCACACATATGTCTTCAAGCTCAAGGTCCCAGATTTATTCTGTTTCTTCTGAGAAAACACATAATAATGATTGCTACTTAGACTATTCTTTTGTTCCTGAAAAGTACTTGGCCTTAGAAAAGAATGATTCTCAGAATTTACCAATATATCCTTCTGAAGATGATATTGAGAAATC... | pathogenic | 135,169 |
The genetic variant at chromosome 8, position 54627026, affecting gene RP1 (RP1 axonemal microtubule associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_1'] | GAGATGAGTTTTCCAGGAAGAACAGAAAGTCGATCATCTGGTTTAAAGCTTGCAGCATGTTCATTCTCTGCAGATGTGTCACCTATGGAGCGAAGCAGTAATCAAGAGGGCAGTTTGGCAGAGGAGATAAACATTCAAATGACAGATCAAGTGGCTGAAACTTGCAGTTCTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGA... | GAGATGAGTTTTCCAGGAAGAACAGAAAGTCGATCATCTGGTTTAAAGCTTGCAGCATGTTCATTCTCTGCAGATGTGTCACCTATGGAGCGAAGCAGTAATCAAGAGGGCAGTTTGGCAGAGGAGATAAACATTCAAATGACAGATCAAGTGGCTGAAACTTGCAGTTCTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGA... | pathogenic | 135,178 |
Variant at chromosome position 54627036, chromosome 8, gene RP1 (RP1 axonemal microtubule associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_1'] | TTCCAGGAAGAACAGAAAGTCGATCATCTGGTTTAAAGCTTGCAGCATGTTCATTCTCTGCAGATGTGTCACCTATGGAGCGAAGCAGTAATCAAGAGGGCAGTTTGGCAGAGGAGATAAACATTCAAATGACAGATCAAGTGGCTGAAACTTGCAGTTCTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTT... | TTCCAGGAAGAACAGAAAGTCGATCATCTGGTTTAAAGCTTGCAGCATGTTCATTCTCTGCAGATGTGTCACCTATGGAGCGAAGCAGTAATCAAGAGGGCAGTTTGGCAGAGGAGATAAACATTCAAATGACAGATCAAGTGGCTGAAACTTGCAGTTCTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTT... | pathogenic | 135,179 |
Chromosome 8, position 54627308, gene RP1 (RP1 axonemal microtubule associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_retinitis_pigmentosa', 'Retinitis_pigmentosa_1'] | AAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATTACAAGTCAGAAGATGTTAGAGATGTCACATAATAATGGTTT... | AAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATTACAAGTCAGAAGATGTTAGAGATGTCACATAATAATGGTTT... | pathogenic | 135,180 |
Mutation at chromosome 8, position 54627570, within RP1 (RP1 axonemal microtubule associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_1'] | CTGGTGTTATAGAAATTACAAGTCAGAAGATGTTAGAGATGTCACATAATAATGGTTTGCCATCAACTATATCAAATAACTCAATTGTGGAGGAAGATGTAGTTGATTGTGTGGTATTGGACAACAAAACTGGTATCAAGAACTTCAAAACTTATGGTAACACCAATGATAGGTTCAGTCCTATTTCAGCAGATGCAACCCATTTTTCAAGTAATAACTCTGGAACTGACAAAAATATTTCTGAGGCTCCAGCTTCAGAAGCATCCTCTACTGTCACTGCAAGAATTGACAGACTAATTAATGAATTTGCTCAGTGTGGT... | CTGGTGTTATAGAAATTACAAGTCAGAAGATGTTAGAGATGTCACATAATAATGGTTTGCCATCAACTATATCAAATAACTCAATTGTGGAGGAAGATGTAGTTGATTGTGTGGTATTGGACAACAAAACTGGTATCAAGAACTTCAAAACTTATGGTAACACCAATGATAGGTTCAGTCCTATTTCAGCAGATGCAACCCATTTTTCAAGTAATAACTCTGGAACTGACAAAAATATTTCTGAGGCTCCAGCTTCAGAAGCATCCTCTACTGTCACTGCAAGAATTGACAGACTAATTAATGAATTTGCTCAGTGTGGT... | pathogenic | 135,182 |
Gene RP1 (RP1 axonemal microtubule associated) variant at chromosome position 54627670 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinal_dystrophy'] | AGTTGATTGTGTGGTATTGGACAACAAAACTGGTATCAAGAACTTCAAAACTTATGGTAACACCAATGATAGGTTCAGTCCTATTTCAGCAGATGCAACCCATTTTTCAAGTAATAACTCTGGAACTGACAAAAATATTTCTGAGGCTCCAGCTTCAGAAGCATCCTCTACTGTCACTGCAAGAATTGACAGACTAATTAATGAATTTGCTCAGTGTGGTTTAACAAAACTTCCAAAAAATGAAAAGAAGATTTTGTCATCTGTTGCCAGCAAAAAGAAGAAAAAATCTCGACAGCAAGCAATAAATTCCAGGTATCAAG... | AGTTGATTGTGTGGTATTGGACAACAAAACTGGTATCAAGAACTTCAAAACTTATGGTAACACCAATGATAGGTTCAGTCCTATTTCAGCAGATGCAACCCATTTTTCAAGTAATAACTCTGGAACTGACAAAAATATTTCTGAGGCTCCAGCTTCAGAAGCATCCTCTACTGTCACTGCAAGAATTGACAGACTAATTAATGAATTTGCTCAGTGTGGTTTAACAAAACTTCCAAAAAATGAAAAGAAGATTTTGTCATCTGTTGCCAGCAAAAAGAAGAAAAAATCTCGACAGCAAGCAATAAATTCCAGGTATCAAG... | pathogenic | 135,184 |
Gene RP1 (RP1 axonemal microtubule associated) variant at chromosome position 54627718 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_1'] | AACTTATGGTAACACCAATGATAGGTTCAGTCCTATTTCAGCAGATGCAACCCATTTTTCAAGTAATAACTCTGGAACTGACAAAAATATTTCTGAGGCTCCAGCTTCAGAAGCATCCTCTACTGTCACTGCAAGAATTGACAGACTAATTAATGAATTTGCTCAGTGTGGTTTAACAAAACTTCCAAAAAATGAAAAGAAGATTTTGTCATCTGTTGCCAGCAAAAAGAAGAAAAAATCTCGACAGCAAGCAATAAATTCCAGGTATCAAGATGGACAGCTTGCAACCAAAGGAATTCTTAATAAGAATGAGAGAATAA... | AACTTATGGTAACACCAATGATAGGTTCAGTCCTATTTCAGCAGATGCAACCCATTTTTCAAGTAATAACTCTGGAACTGACAAAAATATTTCTGAGGCTCCAGCTTCAGAAGCATCCTCTACTGTCACTGCAAGAATTGACAGACTAATTAATGAATTTGCTCAGTGTGGTTTAACAAAACTTCCAAAAAATGAAAAGAAGATTTTGTCATCTGTTGCCAGCAAAAAGAAGAAAAAATCTCGACAGCAAGCAATAAATTCCAGGTATCAAGATGGACAGCTTGCAACCAAAGGAATTCTTAATAAGAATGAGAGAATAA... | pathogenic | 135,185 |
Is the genetic change at chromosome 8, position 54627974, within gene RP1 (RP1 axonemal microtubule associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | AATTCCAGGTATCAAGATGGACAGCTTGCAACCAAAGGAATTCTTAATAAGAATGAGAGAATAAACACAAAAGGTAGAATTACAAAGGAAATGATAGTGCAAGATTCAGATAGTCCCCTTAAAGGAGGGATACTTTGTGAGGAAGACCTCCAGAAAAGTGATACTGTAATTGAATCAAATACTTTTTGTTCCAAAAGTAATCTCAATTCCACGATTTCCAAGAATTTCCATAGAAATAAATTAAATACTACTCAAAATTCCAAGGTTCAAGGACTTTTAACCAAAAGAAAATCTAGATCACTAAATAAAATAAGCTTAGG... | AATTCCAGGTATCAAGATGGACAGCTTGCAACCAAAGGAATTCTTAATAAGAATGAGAGAATAAACACAAAAGGTAGAATTACAAAGGAAATGATAGTGCAAGATTCAGATAGTCCCCTTAAAGGAGGGATACTTTGTGAGGAAGACCTCCAGAAAAGTGATACTGTAATTGAATCAAATACTTTTTGTTCCAAAAGTAATCTCAATTCCACGATTTCCAAGAATTTCCATAGAAATAAATTAAATACTACTCAAAATTCCAAGGTTCAAGGACTTTTAACCAAAAGAAAATCTAGATCACTAAATAAAATAAGCTTAGG... | pathogenic | 135,187 |
Determine whether the variant at chromosome 8, position 54628052, in gene RP1 (RP1 axonemal microtubule associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Retinitis_pigmentosa_1'] | ATTACAAAGGAAATGATAGTGCAAGATTCAGATAGTCCCCTTAAAGGAGGGATACTTTGTGAGGAAGACCTCCAGAAAAGTGATACTGTAATTGAATCAAATACTTTTTGTTCCAAAAGTAATCTCAATTCCACGATTTCCAAGAATTTCCATAGAAATAAATTAAATACTACTCAAAATTCCAAGGTTCAAGGACTTTTAACCAAAAGAAAATCTAGATCACTAAATAAAATAAGCTTAGGAGCACCTAAAAAAAGAGAAATCGGTCAAAGAGATAAAGTGTTTCCTCACAATGAATCTAAATATTGCAAAAGTACTTT... | ATTACAAAGGAAATGATAGTGCAAGATTCAGATAGTCCCCTTAAAGGAGGGATACTTTGTGAGGAAGACCTCCAGAAAAGTGATACTGTAATTGAATCAAATACTTTTTGTTCCAAAAGTAATCTCAATTCCACGATTTCCAAGAATTTCCATAGAAATAAATTAAATACTACTCAAAATTCCAAGGTTCAAGGACTTTTAACCAAAAGAAAATCTAGATCACTAAATAAAATAAGCTTAGGAGCACCTAAAAAAAGAGAAATCGGTCAAAGAGATAAAGTGTTTCCTCACAATGAATCTAAATATTGCAAAAGTACTTT... | pathogenic | 135,189 |
Does the genetic variant at chromosome 8, position 54628077, impacting gene RP1 (RP1 axonemal microtubule associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_1'] | ATTCAGATAGTCCCCTTAAAGGAGGGATACTTTGTGAGGAAGACCTCCAGAAAAGTGATACTGTAATTGAATCAAATACTTTTTGTTCCAAAAGTAATCTCAATTCCACGATTTCCAAGAATTTCCATAGAAATAAATTAAATACTACTCAAAATTCCAAGGTTCAAGGACTTTTAACCAAAAGAAAATCTAGATCACTAAATAAAATAAGCTTAGGAGCACCTAAAAAAAGAGAAATCGGTCAAAGAGATAAAGTGTTTCCTCACAATGAATCTAAATATTGCAAAAGTACTTTTGAAAACAAAAGTTTATTTCATGTA... | ATTCAGATAGTCCCCTTAAAGGAGGGATACTTTGTGAGGAAGACCTCCAGAAAAGTGATACTGTAATTGAATCAAATACTTTTTGTTCCAAAAGTAATCTCAATTCCACGATTTCCAAGAATTTCCATAGAAATAAATTAAATACTACTCAAAATTCCAAGGTTCAAGGACTTTTAACCAAAAGAAAATCTAGATCACTAAATAAAATAAGCTTAGGAGCACCTAAAAAAAGAGAAATCGGTCAAAGAGATAAAGTGTTTCCTCACAATGAATCTAAATATTGCAAAAGTACTTTTGAAAACAAAAGTTTATTTCATGTA... | pathogenic | 135,190 |
Classify the chromosome 8 variant at position 54628097 affecting gene RP1 (RP1 axonemal microtubule associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa'] | GGAGGGATACTTTGTGAGGAAGACCTCCAGAAAAGTGATACTGTAATTGAATCAAATACTTTTTGTTCCAAAAGTAATCTCAATTCCACGATTTCCAAGAATTTCCATAGAAATAAATTAAATACTACTCAAAATTCCAAGGTTCAAGGACTTTTAACCAAAAGAAAATCTAGATCACTAAATAAAATAAGCTTAGGAGCACCTAAAAAAAGAGAAATCGGTCAAAGAGATAAAGTGTTTCCTCACAATGAATCTAAATATTGCAAAAGTACTTTTGAAAACAAAAGTTTATTTCATGTATTTAACATCCTTGAGCAAAA... | GGAGGGATACTTTGTGAGGAAGACCTCCAGAAAAGTGATACTGTAATTGAATCAAATACTTTTTGTTCCAAAAGTAATCTCAATTCCACGATTTCCAAGAATTTCCATAGAAATAAATTAAATACTACTCAAAATTCCAAGGTTCAAGGACTTTTAACCAAAAGAAAATCTAGATCACTAAATAAAATAAGCTTAGGAGCACCTAAAAAAAGAGAAATCGGTCAAAGAGATAAAGTGTTTCCTCACAATGAATCTAAATATTGCAAAAGTACTTTTGAAAACAAAAGTTTATTTCATGTATTTAACATCCTTGAGCAAAA... | pathogenic | 135,191 |
Variant at chromosome position 54628431, chromosome 8, gene RP1 (RP1 axonemal microtubule associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Retinal_dystrophy'] | ATGCACCGCAATCTCAAGCAGAAGTGGCATCTGGGTATTTGAGAGGAATGGCAAAGAAGAGTTTAGTTTCAAAAGTTACTGATTCACACATAACTTTAAAAAGCCAGAAAAAACGTAAAGGGGATAAAGTGAAAGCAAGTGCTATTTTAAGTAAACAACATGCTACAACCAGGGCAAATTCTTTAGCTTCTTTGAAAAAACCTGATTTTCCTGAGGCTATTGCTCATCATTCAATTCAAAATTATATACAGAGTTGGTTGCAGAACATAAATCCATATCCAACTTTAAAGCCTATAAAATCAGCTCCAGTATGTAGAAAT... | ATGCACCGCAATCTCAAGCAGAAGTGGCATCTGGGTATTTGAGAGGAATGGCAAAGAAGAGTTTAGTTTCAAAAGTTACTGATTCACACATAACTTTAAAAAGCCAGAAAAAACGTAAAGGGGATAAAGTGAAAGCAAGTGCTATTTTAAGTAAACAACATGCTACAACCAGGGCAAATTCTTTAGCTTCTTTGAAAAAACCTGATTTTCCTGAGGCTATTGCTCATCATTCAATTCAAAATTATATACAGAGTTGGTTGCAGAACATAAATCCATATCCAACTTTAAAGCCTATAAAATCAGCTCCAGTATGTAGAAAT... | pathogenic | 135,194 |
Does the chromosome 8 mutation at position 54628462 within gene RP1 (RP1 axonemal microtubule associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Retinitis_pigmentosa_1'] | TGGGTATTTGAGAGGAATGGCAAAGAAGAGTTTAGTTTCAAAAGTTACTGATTCACACATAACTTTAAAAAGCCAGAAAAAACGTAAAGGGGATAAAGTGAAAGCAAGTGCTATTTTAAGTAAACAACATGCTACAACCAGGGCAAATTCTTTAGCTTCTTTGAAAAAACCTGATTTTCCTGAGGCTATTGCTCATCATTCAATTCAAAATTATATACAGAGTTGGTTGCAGAACATAAATCCATATCCAACTTTAAAGCCTATAAAATCAGCTCCAGTATGTAGAAATGAAACGAGTGTGGTAAATTGTAGCAATAATA... | TGGGTATTTGAGAGGAATGGCAAAGAAGAGTTTAGTTTCAAAAGTTACTGATTCACACATAACTTTAAAAAGCCAGAAAAAACGTAAAGGGGATAAAGTGAAAGCAAGTGCTATTTTAAGTAAACAACATGCTACAACCAGGGCAAATTCTTTAGCTTCTTTGAAAAAACCTGATTTTCCTGAGGCTATTGCTCATCATTCAATTCAAAATTATATACAGAGTTGGTTGCAGAACATAAATCCATATCCAACTTTAAAGCCTATAAAATCAGCTCCAGTATGTAGAAATGAAACGAGTGTGGTAAATTGTAGCAATAATA... | pathogenic | 135,196 |
Assess the variant on chromosome 8, position 54628466, impacting RP1 (RP1 axonemal microtubule associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic | TATTTGAGAGGAATGGCAAAGAAGAGTTTAGTTTCAAAAGTTACTGATTCACACATAACTTTAAAAAGCCAGAAAAAACGTAAAGGGGATAAAGTGAAAGCAAGTGCTATTTTAAGTAAACAACATGCTACAACCAGGGCAAATTCTTTAGCTTCTTTGAAAAAACCTGATTTTCCTGAGGCTATTGCTCATCATTCAATTCAAAATTATATACAGAGTTGGTTGCAGAACATAAATCCATATCCAACTTTAAAGCCTATAAAATCAGCTCCAGTATGTAGAAATGAAACGAGTGTGGTAAATTGTAGCAATAATAGTTT... | TATTTGAGAGGAATGGCAAAGAAGAGTTTAGTTTCAAAAGTTACTGATTCACACATAACTTTAAAAAGCCAGAAAAAACGTAAAGGGGATAAAGTGAAAGCAAGTGCTATTTTAAGTAAACAACATGCTACAACCAGGGCAAATTCTTTAGCTTCTTTGAAAAAACCTGATTTTCCTGAGGCTATTGCTCATCATTCAATTCAAAATTATATACAGAGTTGGTTGCAGAACATAAATCCATATCCAACTTTAAAGCCTATAAAATCAGCTCCAGTATGTAGAAATGAAACGAGTGTGGTAAATTGTAGCAATAATAGTTT... | pathogenic | 135,197 |
Chromosome 8, position 54628589, gene RP1 (RP1 axonemal microtubule associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa_1'] | CATGCTACAACCAGGGCAAATTCTTTAGCTTCTTTGAAAAAACCTGATTTTCCTGAGGCTATTGCTCATCATTCAATTCAAAATTATATACAGAGTTGGTTGCAGAACATAAATCCATATCCAACTTTAAAGCCTATAAAATCAGCTCCAGTATGTAGAAATGAAACGAGTGTGGTAAATTGTAGCAATAATAGTTTTTCAGGGAATGATCCCCATACAAATTCTGGAAAAATAAGTAATTTTGTTATGGAAAGTAATAAGCACATAACTAAAATTGCCGGTTTGACAGGAGATAATCTATGTAAAGAGGGAGATAAGTC... | CATGCTACAACCAGGGCAAATTCTTTAGCTTCTTTGAAAAAACCTGATTTTCCTGAGGCTATTGCTCATCATTCAATTCAAAATTATATACAGAGTTGGTTGCAGAACATAAATCCATATCCAACTTTAAAGCCTATAAAATCAGCTCCAGTATGTAGAAATGAAACGAGTGTGGTAAATTGTAGCAATAATAGTTTTTCAGGGAATGATCCCCATACAAATTCTGGAAAAATAAGTAATTTTGTTATGGAAAGTAATAAGCACATAACTAAAATTGCCGGTTTGACAGGAGATAATCTATGTAAAGAGGGAGATAAGTC... | pathogenic | 135,199 |
Assess the variant on chromosome 8, position 54628618, impacting RP1 (RP1 axonemal microtubule associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_1'] | TTCTTTGAAAAAACCTGATTTTCCTGAGGCTATTGCTCATCATTCAATTCAAAATTATATACAGAGTTGGTTGCAGAACATAAATCCATATCCAACTTTAAAGCCTATAAAATCAGCTCCAGTATGTAGAAATGAAACGAGTGTGGTAAATTGTAGCAATAATAGTTTTTCAGGGAATGATCCCCATACAAATTCTGGAAAAATAAGTAATTTTGTTATGGAAAGTAATAAGCACATAACTAAAATTGCCGGTTTGACAGGAGATAATCTATGTAAAGAGGGAGATAAGTCTTTTATTGCCAATGACACTGGTGAAGAAG... | TTCTTTGAAAAAACCTGATTTTCCTGAGGCTATTGCTCATCATTCAATTCAAAATTATATACAGAGTTGGTTGCAGAACATAAATCCATATCCAACTTTAAAGCCTATAAAATCAGCTCCAGTATGTAGAAATGAAACGAGTGTGGTAAATTGTAGCAATAATAGTTTTTCAGGGAATGATCCCCATACAAATTCTGGAAAAATAAGTAATTTTGTTATGGAAAGTAATAAGCACATAACTAAAATTGCCGGTTTGACAGGAGATAATCTATGTAAAGAGGGAGATAAGTCTTTTATTGCCAATGACACTGGTGAAGAAG... | pathogenic | 135,200 |
Considering the genetic mutation at chromosome 8, position 54628896, impacting RP1: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_1'] | AGGGAGATAAGTCTTTTATTGCCAATGACACTGGTGAAGAAGATCTCCATGAGACACAGGTTGGATCTCTGAATGATGCTTATTTGGTTCCCCTGCATGAACACTGTACTTTGTCACAGTCAGCTATTAATGATCATAATACTAAAAGTCATATAGCTGCTGAAAAATCAGGACCAGAGAAAAAACTTGTTTACCAGGAAATAAACCTAGCTAGAAAAAGGCAAAGTGTAGAGGCTGCCATTCAAGTAGATCCTATAGAAGAGGAAACTCCAAAAGACCTCTTACCAGTCCTGATGCTTCACCAATTGCAAGCTTCAGTT... | AGGGAGATAAGTCTTTTATTGCCAATGACACTGGTGAAGAAGATCTCCATGAGACACAGGTTGGATCTCTGAATGATGCTTATTTGGTTCCCCTGCATGAACACTGTACTTTGTCACAGTCAGCTATTAATGATCATAATACTAAAAGTCATATAGCTGCTGAAAAATCAGGACCAGAGAAAAAACTTGTTTACCAGGAAATAAACCTAGCTAGAAAAAGGCAAAGTGTAGAGGCTGCCATTCAAGTAGATCCTATAGAAGAGGAAACTCCAAAAGACCTCTTACCAGTCCTGATGCTTCACCAATTGCAAGCTTCAGTT... | pathogenic | 135,205 |
Is the genetic change at chromosome 8, position 54629444, within gene RP1 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_1'] | ATCACAGAGGAAGCTGATGACTTGAAAGCTGCTGTTGCCAATTTAGTGGAGTCAACTACAAGCCACTTTGGACTCAGTGAGAAAGAACAAGACATGGTTCCAATAGATCTTTCTGCAAATTGTTCCACGGTCAACATTCAGAGTGTTCCTAAGTGCAGTGAAAATGAAAGAACACAAGGAATCTCCTCTTTGGATGGAGGTTGCTCTGCCAGTGAGGCATGTGCCCCTGAAGTCTGTGTTTTGGAAGTGACTTGCTCTCCATGTGAGATGTGCACTGTAAATAAGGCTTATTCTCCAAAAGAGACATGTAACCCCAGTGA... | ATCACAGAGGAAGCTGATGACTTGAAAGCTGCTGTTGCCAATTTAGTGGAGTCAACTACAAGCCACTTTGGACTCAGTGAGAAAGAACAAGACATGGTTCCAATAGATCTTTCTGCAAATTGTTCCACGGTCAACATTCAGAGTGTTCCTAAGTGCAGTGAAAATGAAAGAACACAAGGAATCTCCTCTTTGGATGGAGGTTGCTCTGCCAGTGAGGCATGTGCCCCTGAAGTCTGTGTTTTGGAAGTGACTTGCTCTCCATGTGAGATGTGCACTGTAAATAAGGCTTATTCTCCAAAAGAGACATGTAACCCCAGTGA... | pathogenic | 135,212 |
Chromosome 8, position 54629843, gene RP1: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa'] | CTTACTGATACTGTGTTTTCTGATAAGGCTTGTGCTCAAAAGGAGAACCATACCTATGAGGGAGCTTGCCCAATTGATGAGACCTACGTTCCTGTCAATGTCTGCAATACCATTGACTTTTTAAACTCCAAAGAAAACACATATACTGATAACTTGGATTCAACTGAAGAGTTAGAAAGAGGTGATGACATTCAGAAAGATCTAAATATTTTGACAGACCCTGAATATAAAAATGGATTTAATACATTGGTGTCACATCAAAATGTCAGTAATTTAAGCTCCTGTGGCCTTTGCCTAAGTGAAAAAGAAGCAGAACTTGA... | CTTACTGATACTGTGTTTTCTGATAAGGCTTGTGCTCAAAAGGAGAACCATACCTATGAGGGAGCTTGCCCAATTGATGAGACCTACGTTCCTGTCAATGTCTGCAATACCATTGACTTTTTAAACTCCAAAGAAAACACATATACTGATAACTTGGATTCAACTGAAGAGTTAGAAAGAGGTGATGACATTCAGAAAGATCTAAATATTTTGACAGACCCTGAATATAAAAATGGATTTAATACATTGGTGTCACATCAAAATGTCAGTAATTTAAGCTCCTGTGGCCTTTGCCTAAGTGAAAAAGAAGCAGAACTTGA... | pathogenic | 135,215 |
Mutation found at chromosome 8 position 54630060, gene RP1 (RP1 axonemal microtubule associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_1'] | ACCCTGAATATAAAAATGGATTTAATACATTGGTGTCACATCAAAATGTCAGTAATTTAAGCTCCTGTGGCCTTTGCCTAAGTGAAAAAGAAGCAGAACTTGATAAGAAACATAGTTCTCTAGATGATTTTGAAAATTGTTCACTAAGGAAGTTTCAGGATGAAAATGCATATACTTCCTTTGATATGGAAGAACCACGGACTTCTGAAGAACCAGGCTCAATAACCAACAGCATGACATCAAGTGAAAGAAACATTTCAGAATTGGAATCTTTTGAAGAATTAGAAAACCATGACACTGATATCTTTAATACAGTGGTA... | ACCCTGAATATAAAAATGGATTTAATACATTGGTGTCACATCAAAATGTCAGTAATTTAAGCTCCTGTGGCCTTTGCCTAAGTGAAAAAGAAGCAGAACTTGATAAGAAACATAGTTCTCTAGATGATTTTGAAAATTGTTCACTAAGGAAGTTTCAGGATGAAAATGCATATACTTCCTTTGATATGGAAGAACCACGGACTTCTGAAGAACCAGGCTCAATAACCAACAGCATGACATCAAGTGAAAGAAACATTTCAGAATTGGAATCTTTTGAAGAATTAGAAAACCATGACACTGATATCTTTAATACAGTGGTA... | pathogenic | 135,218 |
Classify the chromosome 8 variant at position 56073279 affecting gene RPS20 (ribosomal protein S20) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GTTCTCTGGACTTTAGTGACATTTTTTTCAGAATTTCATTTCCTCAGTCAGTTCTCAAGACATGTGTGCTCTAAAGACTGCTATGCTGCACTAAAAGTTCATAGGTATTTGTCTGGGGGCCACGTATTGATAGGTATTCCATTTTAAAATGGTCTTATTAACTGATAGCTAAACAGCTCCCAAAGATCAACTGTTTGGTTTAAATTTAGCAATGTGGCATAATTCATTCCAGACTCAGTTCCATTCAAATCCTTGATGTTAACTGGGTTTGTCTTGAGATCTGAAGTAGACTCAGAAGGAATTGGATGTTGGGTAACAGC... | GTTCTCTGGACTTTAGTGACATTTTTTTCAGAATTTCATTTCCTCAGTCAGTTCTCAAGACATGTGTGCTCTAAAGACTGCTATGCTGCACTAAAAGTTCATAGGTATTTGTCTGGGGGCCACGTATTGATAGGTATTCCATTTTAAAATGGTCTTATTAACTGATAGCTAAACAGCTCCCAAAGATCAACTGTTTGGTTTAAATTTAGCAATGTGGCATAATTCATTCCAGACTCAGTTCCATTCAAATCCTTGATGTTAACTGGGTTTGTCTTGAGATCTGAAGTAGACTCAGAAGGAATTGGATGTTGGGTAACAGC... | benign | 135,263 |
Chromosome 8, position 56073675, gene RPS20 (ribosomal protein S20): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGGACAGAGCTTCTGGGAGGGAAGATTTCATTTTAGACACATTAGCTTTTCAGCTGTGGGTTGCAGGTGCCTAGCATGCAGTTGGTTGTATACAGAAATCTCAACTGAAGGTCAATTTGAAAAGATAGCAGAGTTCAGCGTGAAAGCCTAGGCCCAAATCCAAAAAGAAAAAACTTGAATTACCCAACTTTGATCCTATTAAAAATTTCAAAAATTTTCTGAAGGCAATCTTAACAATTTGTAGATGTTCCATTTTTCCACAATAAATCTATAGAAACTTTCCCCAATAAGTTTAGCAAACCTGTAAGGGTATCTATCTG... | AGGACAGAGCTTCTGGGAGGGAAGATTTCATTTTAGACACATTAGCTTTTCAGCTGTGGGTTGCAGGTGCCTAGCATGCAGTTGGTTGTATACAGAAATCTCAACTGAAGGTCAATTTGAAAAGATAGCAGAGTTCAGCGTGAAAGCCTAGGCCCAAATCCAAAAAGAAAAAACTTGAATTACCCAACTTTGATCCTATTAAAAATTTCAAAAATTTTCTGAAGGCAATCTTAACAATTTGTAGATGTTCCATTTTTCCACAATAAATCTATAGAAACTTTCCCCAATAAGTTTAGCAAACCTGTAAGGGTATCTATCTG... | benign | 135,267 |
Variant at chromosome position 58492544, chromosome 8, gene CYP7A1: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AAATGGCTATTTCCATCCAGTTTTAACTTTAAAACATATCACATAAAAGCTACATTTTTTCAGTGATAATGTGTATTTAACAATGACAGAAAAACTACCTTTTTTAATCTCTGAGAAAACTCTTCTCATTAATGTGAATGAAATAAAAATATAGAGAAGATAGTTAAAGCCGGACATAGAGTTTTCAGCAACAATAAGTTAAAACATGAAGGGAAAATAAAACCACCTTTAGTGTTTTTGGGAAATCAAGATAATCATGTTTAAAGCCCTGAATTTTGGATATAGAAGAAGTTGAAAAATATTTCCTTTTTATTAAAAGA... | AAATGGCTATTTCCATCCAGTTTTAACTTTAAAACATATCACATAAAAGCTACATTTTTTCAGTGATAATGTGTATTTAACAATGACAGAAAAACTACCTTTTTTAATCTCTGAGAAAACTCTTCTCATTAATGTGAATGAAATAAAAATATAGAGAAGATAGTTAAAGCCGGACATAGAGTTTTCAGCAACAATAAGTTAAAACATGAAGGGAAAATAAAACCACCTTTAGTGTTTTTGGGAAATCAAGATAATCATGTTTAAAGCCCTGAATTTTGGATATAGAAGAAGTTGAAAAATATTTCCTTTTTATTAAAAGA... | benign | 135,341 |
Clinical impact (benign or pathogenic) of the variant at chromosome 8, location 60741618, gene CHD7 (chromodomain helicase DNA binding protein 7): what disease(s) if pathogenic? | pathogenic; ['CHARGE_syndrome'] | TTCATGGCAGTTAGCGGCAGAGTGAAGAGACCTTTGACTTTAGTTGACAGCTGTCACCTGAAAACTACAGGCCTGGAGACCCTCTCAGGTGTTATGTCTGTAGTTCTGACAGTGAACAGGAATGTTGTTTACATTTTCTGTAAGCAAAATTCTCCCCTTGTTAGGAATGTGTTAGAATACGGCAGGCAGAAACAGAATTTTTATGTGTCTTACTGGTAAGTTCTCAGGAGTGTTGGTTAGCCCATTGTTCATTCCCATGCTCTTATGGAAGGGTGTCAGTAGAATTTATGACTGAGCCTGTTTTTATCATCACTTTGGAA... | TTCATGGCAGTTAGCGGCAGAGTGAAGAGACCTTTGACTTTAGTTGACAGCTGTCACCTGAAAACTACAGGCCTGGAGACCCTCTCAGGTGTTATGTCTGTAGTTCTGACAGTGAACAGGAATGTTGTTTACATTTTCTGTAAGCAAAATTCTCCCCTTGTTAGGAATGTGTTAGAATACGGCAGGCAGAAACAGAATTTTTATGTGTCTTACTGGTAAGTTCTCAGGAGTGTTGGTTAGCCCATTGTTCATTCCCATGCTCTTATGGAAGGGTGTCAGTAGAATTTATGACTGAGCCTGTTTTTATCATCACTTTGGAA... | pathogenic | 135,383 |
Considering the genetic mutation at chromosome 8, position 60741713, impacting CHD7 (chromodomain helicase DNA binding protein 7): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['CHARGE_syndrome'] | GTCTGTAGTTCTGACAGTGAACAGGAATGTTGTTTACATTTTCTGTAAGCAAAATTCTCCCCTTGTTAGGAATGTGTTAGAATACGGCAGGCAGAAACAGAATTTTTATGTGTCTTACTGGTAAGTTCTCAGGAGTGTTGGTTAGCCCATTGTTCATTCCCATGCTCTTATGGAAGGGTGTCAGTAGAATTTATGACTGAGCCTGTTTTTATCATCACTTTGGAAATTCTTCAACAAGATATTGTTTTTTTCAAGTGAGCTAGTATCACACAATGCTTAATGTCCTTATAAAAGAGAAAAAAATGAGTTAAATTCCAAAG... | GTCTGTAGTTCTGACAGTGAACAGGAATGTTGTTTACATTTTCTGTAAGCAAAATTCTCCCCTTGTTAGGAATGTGTTAGAATACGGCAGGCAGAAACAGAATTTTTATGTGTCTTACTGGTAAGTTCTCAGGAGTGTTGGTTAGCCCATTGTTCATTCCCATGCTCTTATGGAAGGGTGTCAGTAGAATTTATGACTGAGCCTGTTTTTATCATCACTTTGGAAATTCTTCAACAAGATATTGTTTTTTTCAAGTGAGCTAGTATCACACAATGCTTAATGTCCTTATAAAAGAGAAAAAAATGAGTTAAATTCCAAAG... | pathogenic | 135,388 |
Variant in gene CHD7 (chromodomain helicase DNA binding protein 7), located at chromosome 8 position 60741950: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['CHARGE_syndrome', 'Hypogonadotropic_hypogonadism_5_with_or_without_anosmia'] | GATATTGTTTTTTTCAAGTGAGCTAGTATCACACAATGCTTAATGTCCTTATAAAAGAGAAAAAAATGAGTTAAATTCCAAAGATGTTTAAGATTTCAGTCATTTTCTCTATATGAATTAGGTCTTTATTAGGCCGTTGATTTAATTAGTGTTCAACAAAAACACTTTCCTGTTTAGATTGTCAACGCATTCTTTAAATTAGTTATTTTAATCTGACACAGGATCTGTTAGGAAGAGTTTGAATAAGATGCAGCATGTTACATAGTGTACACAGTGCGCTGGAAGCACGTAGGGTGCGAACACAAGTGCCTGCCAACTTG... | GATATTGTTTTTTTCAAGTGAGCTAGTATCACACAATGCTTAATGTCCTTATAAAAGAGAAAAAAATGAGTTAAATTCCAAAGATGTTTAAGATTTCAGTCATTTTCTCTATATGAATTAGGTCTTTATTAGGCCGTTGATTTAATTAGTGTTCAACAAAAACACTTTCCTGTTTAGATTGTCAACGCATTCTTTAAATTAGTTATTTTAATCTGACACAGGATCTGTTAGGAAGAGTTTGAATAAGATGCAGCATGTTACATAGTGTACACAGTGCGCTGGAAGCACGTAGGGTGCGAACACAAGTGCCTGCCAACTTG... | pathogenic | 135,408 |
Classify the chromosome 8 variant at position 60742490 affecting gene CHD7 (chromodomain helicase DNA binding protein 7) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['CHARGE_syndrome'] | GTGAATAATGAGCCTGGTGATTGGGCTGCTCTGTGTCAGTGCAGACTGGGACCATGGTAGGCTCAGAGCCATGAGTGAAATTGGTCGTCTTGGACAATGAAAGCTTTTCTTTTAGTTTCTTTCTGAATCTTGTATATTTCTGCCATTAAACATAATGAAATTATGAATTTATTGTACTGTTCTCAAGGTTGCTTTTCAACATCATTATGAACACTTTCTTGTTAGATGCCTCTGTTGCAGTTACATAGTTGTATGTGGGCTGTAAATATCTAATTTGTATGAAATGACCGATTTTGGTATTTGTATAATCCTCTAGTCAA... | GTGAATAATGAGCCTGGTGATTGGGCTGCTCTGTGTCAGTGCAGACTGGGACCATGGTAGGCTCAGAGCCATGAGTGAAATTGGTCGTCTTGGACAATGAAAGCTTTTCTTTTAGTTTCTTTCTGAATCTTGTATATTTCTGCCATTAAACATAATGAAATTATGAATTTATTGTACTGTTCTCAAGGTTGCTTTTCAACATCATTATGAACACTTTCTTGTTAGATGCCTCTGTTGCAGTTACATAGTTGTATGTGGGCTGTAAATATCTAATTTGTATGAAATGACCGATTTTGGTATTTGTATAATCCTCTAGTCAA... | pathogenic | 135,438 |
Does the chromosome 8 mutation at position 60781133 within gene CHD7 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['CHARGE_syndrome'] | TGACCAGCAAAGGGCAATAAGTATTTTAAGATTTTTTAATGCCACAGGATTTTGGAAGAAACTTTGGAAATCACCTATCAATCACCTAACCCAAAACCTTCATTTTGCAGAAAAAGAAACTAACCCCAGATGGGTGAAGTGATTTTTTCCCAGATGATATAGCTGACGGTAGGGCCTGGACTTGAATTTTAATCTCTTAACTCAGAGTTCTGGGCTCTTTCTCTTACACCAGTGCAATTGAGTGAAACCTGTGAGCCTTTCCCAGAAAGATGCTGTGTAGAAGATGTTAGGAAGAGGTGGACAGAATCAGAAAGTACTAG... | TGACCAGCAAAGGGCAATAAGTATTTTAAGATTTTTTAATGCCACAGGATTTTGGAAGAAACTTTGGAAATCACCTATCAATCACCTAACCCAAAACCTTCATTTTGCAGAAAAAGAAACTAACCCCAGATGGGTGAAGTGATTTTTTCCCAGATGATATAGCTGACGGTAGGGCCTGGACTTGAATTTTAATCTCTTAACTCAGAGTTCTGGGCTCTTTCTCTTACACCAGTGCAATTGAGTGAAACCTGTGAGCCTTTCCCAGAAAGATGCTGTGTAGAAGATGTTAGGAAGAGGTGGACAGAATCAGAAAGTACTAG... | pathogenic | 135,471 |
Located at chromosome 8 position 60781139, the variant affecting gene CHD7—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hypogonadotropic_hypogonadism_5_with_or_without_anosmia'] | GCAAAGGGCAATAAGTATTTTAAGATTTTTTAATGCCACAGGATTTTGGAAGAAACTTTGGAAATCACCTATCAATCACCTAACCCAAAACCTTCATTTTGCAGAAAAAGAAACTAACCCCAGATGGGTGAAGTGATTTTTTCCCAGATGATATAGCTGACGGTAGGGCCTGGACTTGAATTTTAATCTCTTAACTCAGAGTTCTGGGCTCTTTCTCTTACACCAGTGCAATTGAGTGAAACCTGTGAGCCTTTCCCAGAAAGATGCTGTGTAGAAGATGTTAGGAAGAGGTGGACAGAATCAGAAAGTACTAGAGTTAG... | GCAAAGGGCAATAAGTATTTTAAGATTTTTTAATGCCACAGGATTTTGGAAGAAACTTTGGAAATCACCTATCAATCACCTAACCCAAAACCTTCATTTTGCAGAAAAAGAAACTAACCCCAGATGGGTGAAGTGATTTTTTCCCAGATGATATAGCTGACGGTAGGGCCTGGACTTGAATTTTAATCTCTTAACTCAGAGTTCTGGGCTCTTTCTCTTACACCAGTGCAATTGAGTGAAACCTGTGAGCCTTTCCCAGAAAGATGCTGTGTAGAAGATGTTAGGAAGAGGTGGACAGAATCAGAAAGTACTAGAGTTAG... | pathogenic | 135,472 |
A genetic alteration at chromosome 8, position 60781280, in gene CHD7—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['CHARGE_syndrome', 'CHD7-related_disorder'] | TCCCAGATGATATAGCTGACGGTAGGGCCTGGACTTGAATTTTAATCTCTTAACTCAGAGTTCTGGGCTCTTTCTCTTACACCAGTGCAATTGAGTGAAACCTGTGAGCCTTTCCCAGAAAGATGCTGTGTAGAAGATGTTAGGAAGAGGTGGACAGAATCAGAAAGTACTAGAGTTAGGAAACTAGATTCAAATCTTAGCTCCGTCACTAACTGTGTGACCTGGGGTGGCCACATCACCTTCTTGGACTTTTCCTTTCTGAAAGTTGGGGGTAAATTATCACTTTTTTGTTATGAGATTCAGGGGAATTAACACATCTA... | TCCCAGATGATATAGCTGACGGTAGGGCCTGGACTTGAATTTTAATCTCTTAACTCAGAGTTCTGGGCTCTTTCTCTTACACCAGTGCAATTGAGTGAAACCTGTGAGCCTTTCCCAGAAAGATGCTGTGTAGAAGATGTTAGGAAGAGGTGGACAGAATCAGAAAGTACTAGAGTTAGGAAACTAGATTCAAATCTTAGCTCCGTCACTAACTGTGTGACCTGGGGTGGCCACATCACCTTCTTGGACTTTTCCTTTCTGAAAGTTGGGGGTAAATTATCACTTTTTTGTTATGAGATTCAGGGGAATTAACACATCTA... | pathogenic | 135,475 |
Located at chromosome 8 position 60781383, the variant affecting gene CHD7—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GTGAGCCTTTCCCAGAAAGATGCTGTGTAGAAGATGTTAGGAAGAGGTGGACAGAATCAGAAAGTACTAGAGTTAGGAAACTAGATTCAAATCTTAGCTCCGTCACTAACTGTGTGACCTGGGGTGGCCACATCACCTTCTTGGACTTTTCCTTTCTGAAAGTTGGGGGTAAATTATCACTTTTTTGTTATGAGATTCAGGGGAATTAACACATCTAGCAAACATAACCTAGCTTGGTGCATGGCATCAAATAGCCGCTCAGTCAATATTAGGTGTATTGGAATCGAATTTACAGTACCTGTATTTTAATGTTTGATTCT... | GTGAGCCTTTCCCAGAAAGATGCTGTGTAGAAGATGTTAGGAAGAGGTGGACAGAATCAGAAAGTACTAGAGTTAGGAAACTAGATTCAAATCTTAGCTCCGTCACTAACTGTGTGACCTGGGGTGGCCACATCACCTTCTTGGACTTTTCCTTTCTGAAAGTTGGGGGTAAATTATCACTTTTTTGTTATGAGATTCAGGGGAATTAACACATCTAGCAAACATAACCTAGCTTGGTGCATGGCATCAAATAGCCGCTCAGTCAATATTAGGTGTATTGGAATCGAATTTACAGTACCTGTATTTTAATGTTTGATTCT... | benign | 135,479 |
A mutation at chromosome position 60800567 on chromosome 8 in gene CHD7 (chromodomain helicase DNA binding protein 7): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TCAATCAGTCCCACTCTTTGGGGAAAAGTACTGGGATTGTGTTCATCCTGACTTGAGAAATGGTAGTGCCTGTCTTGCCTTAGGTGCACACAATGAATGTTTTGCCTCTCTCTGCCTTACTTTCTCAACTTTAACATTCTTGAGACTCTTTAAAAAGTGTTATTTCATAATTCTTAGAAAAAATTTTGTGTCAAAATTTTCCTCAATATTTTTATTTCTTCTTTGTGCTTTGCAAACTCATTCCATAGGTTGTAATATTCTTGAATTCATTAGCAGCTTAAAACTTTACATGTGTCATTTTCAAATTTAGATTTGACATA... | TCAATCAGTCCCACTCTTTGGGGAAAAGTACTGGGATTGTGTTCATCCTGACTTGAGAAATGGTAGTGCCTGTCTTGCCTTAGGTGCACACAATGAATGTTTTGCCTCTCTCTGCCTTACTTTCTCAACTTTAACATTCTTGAGACTCTTTAAAAAGTGTTATTTCATAATTCTTAGAAAAAATTTTGTGTCAAAATTTTCCTCAATATTTTTATTTCTTCTTTGTGCTTTGCAAACTCATTCCATAGGTTGTAATATTCTTGAATTCATTAGCAGCTTAAAACTTTACATGTGTCATTTTCAAATTTAGATTTGACATA... | benign | 135,494 |
Evaluate the clinical significance of the mutation at chromosome 8, position 60801516 in gene CHD7 (chromodomain helicase DNA binding protein 7): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ACTGTCCATAGTCATTCATTATGAATTTTGCCATTTAACCCTTCATCTCTTCAGAAATTTTCAGAGTATTTCTTTTAGGATCAAGATTAAAATACAAAAACCTTTTATTTAAAATGGCCTGAAATATCTGGGGCACCTTGGTTAGTATTATAACAATATTTGTATAGAACTTTGTAATTTACAGATTATTTTCTAAAGCACTGATTTTTTTTGGACTTTTTATATGGGAAAAATGTTAAAATGTACAAAGGTAGAGAGAGTAGTATAATGAACCCCTATAGATTCATTAGCCAGCTCCAGTATTGCTGCCACTTTTGATG... | ACTGTCCATAGTCATTCATTATGAATTTTGCCATTTAACCCTTCATCTCTTCAGAAATTTTCAGAGTATTTCTTTTAGGATCAAGATTAAAATACAAAAACCTTTTATTTAAAATGGCCTGAAATATCTGGGGCACCTTGGTTAGTATTATAACAATATTTGTATAGAACTTTGTAATTTACAGATTATTTTCTAAAGCACTGATTTTTTTTGGACTTTTTATATGGGAAAAATGTTAAAATGTACAAAGGTAGAGAGAGTAGTATAATGAACCCCTATAGATTCATTAGCCAGCTCCAGTATTGCTGCCACTTTTGATG... | benign | 135,497 |
Clinically, how would you classify the variant at chromosome 8, position 60801532, gene CHD7 (chromodomain helicase DNA binding protein 7): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['CHARGE_syndrome'] | CATTATGAATTTTGCCATTTAACCCTTCATCTCTTCAGAAATTTTCAGAGTATTTCTTTTAGGATCAAGATTAAAATACAAAAACCTTTTATTTAAAATGGCCTGAAATATCTGGGGCACCTTGGTTAGTATTATAACAATATTTGTATAGAACTTTGTAATTTACAGATTATTTTCTAAAGCACTGATTTTTTTTGGACTTTTTATATGGGAAAAATGTTAAAATGTACAAAGGTAGAGAGAGTAGTATAATGAACCCCTATAGATTCATTAGCCAGCTCCAGTATTGCTGCCACTTTTGATGGACATACTGACTGACT... | CATTATGAATTTTGCCATTTAACCCTTCATCTCTTCAGAAATTTTCAGAGTATTTCTTTTAGGATCAAGATTAAAATACAAAAACCTTTTATTTAAAATGGCCTGAAATATCTGGGGCACCTTGGTTAGTATTATAACAATATTTGTATAGAACTTTGTAATTTACAGATTATTTTCTAAAGCACTGATTTTTTTTGGACTTTTTATATGGGAAAAATGTTAAAATGTACAAAGGTAGAGAGAGTAGTATAATGAACCCCTATAGATTCATTAGCCAGCTCCAGTATTGCTGCCACTTTTGATGGACATACTGACTGACT... | pathogenic | 135,499 |
The chromosome 8, position 60816387 genetic variant in gene CHD7 (chromodomain helicase DNA binding protein 7): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['CHARGE_syndrome', 'CHD7-related_disorder'] | CACCTCAGCCAAGGCAAGAATACTAACTGACTGACTGCACATGTGCCTTTTTCTGTCAAATAATTTGGAGACTAGAGCAGATTATTTTTATAATATGTGTTTCTTTTTGTGTGTGTGTGGCAGGGGGAAGAGGGTCTCCCTCTGTCACCCAGGCTTGAATGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCTCTGGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACGGCCTAGCTGATTTTTGTATTTTTAATAGAGTTGGGTTTTCACCATATTGGTCAGG... | CACCTCAGCCAAGGCAAGAATACTAACTGACTGACTGCACATGTGCCTTTTTCTGTCAAATAATTTGGAGACTAGAGCAGATTATTTTTATAATATGTGTTTCTTTTTGTGTGTGTGTGGCAGGGGGAAGAGGGTCTCCCTCTGTCACCCAGGCTTGAATGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCACCTCTGGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACGGCCTAGCTGATTTTTGTATTTTTAATAGAGTTGGGTTTTCACCATATTGGTCAGG... | pathogenic | 135,505 |
Regarding the variant found on chromosome 8 at position 60819983 in gene CHD7 (chromodomain helicase DNA binding protein 7): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ATTAAGTTTATTTGTATTCTCTCTCCTGTAGTCACACTGTCTTTAGGAAATTGTGCCTAGCCCTAGCTACACATACCAAGGTTGAATGTACATTATTTACCTGGTAACTTGGCAGCTAGAAATCTTAGTTTCTGTCCTGAGTGGGAGTTAGCAGAGAAGGATAGCAATCCCCTTCCTCCCTCTCTTTTATACATGAAAGTGCACACGCCCCCGTTTGTTTCATCCCATACATGATCATGGCTTCAGGTGTTCCATGGCTGTACTGCTTTGAGATTTTCAGTTTCAGCTGCTTTTACATTCTTTGTTTCTCCTTAGGCTGC... | ATTAAGTTTATTTGTATTCTCTCTCCTGTAGTCACACTGTCTTTAGGAAATTGTGCCTAGCCCTAGCTACACATACCAAGGTTGAATGTACATTATTTACCTGGTAACTTGGCAGCTAGAAATCTTAGTTTCTGTCCTGAGTGGGAGTTAGCAGAGAAGGATAGCAATCCCCTTCCTCCCTCTCTTTTATACATGAAAGTGCACACGCCCCCGTTTGTTTCATCCCATACATGATCATGGCTTCAGGTGTTCCATGGCTGTACTGCTTTGAGATTTTCAGTTTCAGCTGCTTTTACATTCTTTGTTTCTCCTTAGGCTGC... | benign | 135,512 |
Variant in CHD7 (chromodomain helicase DNA binding protein 7), chromosome 8, position 60820034—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['CHARGE_syndrome'] | TGTGCCTAGCCCTAGCTACACATACCAAGGTTGAATGTACATTATTTACCTGGTAACTTGGCAGCTAGAAATCTTAGTTTCTGTCCTGAGTGGGAGTTAGCAGAGAAGGATAGCAATCCCCTTCCTCCCTCTCTTTTATACATGAAAGTGCACACGCCCCCGTTTGTTTCATCCCATACATGATCATGGCTTCAGGTGTTCCATGGCTGTACTGCTTTGAGATTTTCAGTTTCAGCTGCTTTTACATTCTTTGTTTCTCCTTAGGCTGCCTTACAAGCCTGCTGCAACTAAAAATGTCTATTCAAAAACATCATTTAGAC... | TGTGCCTAGCCCTAGCTACACATACCAAGGTTGAATGTACATTATTTACCTGGTAACTTGGCAGCTAGAAATCTTAGTTTCTGTCCTGAGTGGGAGTTAGCAGAGAAGGATAGCAATCCCCTTCCTCCCTCTCTTTTATACATGAAAGTGCACACGCCCCCGTTTGTTTCATCCCATACATGATCATGGCTTCAGGTGTTCCATGGCTGTACTGCTTTGAGATTTTCAGTTTCAGCTGCTTTTACATTCTTTGTTTCTCCTTAGGCTGCCTTACAAGCCTGCTGCAACTAAAAATGTCTATTCAAAAACATCATTTAGAC... | pathogenic | 135,513 |
The genetic variant at chromosome 8, position 60821795, affecting gene CHD7 (chromodomain helicase DNA binding protein 7): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['CHARGE_syndrome'] | AAATATTCTTAAACATTCTCTCACAGTAAAAGGTTTCACACGGTAATTAAAAGACCCAGTTAACGAAGTCTGAGAAGTCTGATTTCCTCATGGGGAGTGATTTTGCTAAATTGTAGCATTTCAATTAATATAATAGAATTTGCCAAATGTAAGTTTTATATTGCTGTGACCCAAAATATTATTGCTTGGTGAAAAGTGGAATAGTATTTCATCTTAGGAAATAAGTAAACCTTTAACTTTTTTTTTTCCCTTTGGTGTAGATTGAGGATGAGCTTTTTAATCCAGATTATGTGGAGGTTGACCGGATAATGGACTTTGCA... | AAATATTCTTAAACATTCTCTCACAGTAAAAGGTTTCACACGGTAATTAAAAGACCCAGTTAACGAAGTCTGAGAAGTCTGATTTCCTCATGGGGAGTGATTTTGCTAAATTGTAGCATTTCAATTAATATAATAGAATTTGCCAAATGTAAGTTTTATATTGCTGTGACCCAAAATATTATTGCTTGGTGAAAAGTGGAATAGTATTTCATCTTAGGAAATAAGTAAACCTTTAACTTTTTTTTTTCCCTTTGGTGTAGATTGAGGATGAGCTTTTTAATCCAGATTATGTGGAGGTTGACCGGATAATGGACTTTGCA... | pathogenic | 135,518 |
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