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 |
|---|---|---|---|---|---|
Variant in gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1), located at chromosome 3 position 183072421: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | AAAAGAATGAGGCTGATCTACAATTACTGACATGGAAAGATGTCTGTGATATAATATTAGTGTATAAGATTCTATTCACTGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGTTTGAGACCTGCCTGACCAACATGGGAAAACCCCATCTCTACTAAAAACACAAAAATTAGCCAGGCATGGTGGGGCATACCTGTAATTCCAGCTACTTAGGAGGCTGAGGCAGGACAATCGCTTGAACTCGGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCC... | AAAAGAATGAGGCTGATCTACAATTACTGACATGGAAAGATGTCTGTGATATAATATTAGTGTATAAGATTCTATTCACTGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGTTTGAGACCTGCCTGACCAACATGGGAAAACCCCATCTCTACTAAAAACACAAAAATTAGCCAGGCATGGTGGGGCATACCTGTAATTCCAGCTACTTAGGAGGCTGAGGCAGGACAATCGCTTGAACTCGGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCC... | pathogenic | 77,199 |
Gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) variant at chromosome position 183092453 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | TTATTAATACTGTTAACTGACAAATCATAATTGTATGCATTTATGGGGTACAATGTGATGTTTTGCCACATGCACACAATGTGGAATGATTGAATCAAGCCAATTAACCTAGGCATCATCTCACTTACCTAATATTTTTTCATGGTAAGACATTTAAAATTTACTCTCTTATTTTGGGAAAATTCTTTTTTTTTTTTTCTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG... | TTATTAATACTGTTAACTGACAAATCATAATTGTATGCATTTATGGGGTACAATGTGATGTTTTGCCACATGCACACAATGTGGAATGATTGAATCAAGCCAATTAACCTAGGCATCATCTCACTTACCTAATATTTTTTCATGGTAAGACATTTAAAATTTACTCTCTTATTTTGGGAAAATTCTTTTTTTTTTTTTCTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG... | pathogenic | 77,210 |
Mutation found at chromosome 3 position 183092509, gene MCCC1 (methylcrotonyl-CoA carboxylase subunit 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['3-methylcrotonyl-CoA_carboxylase_1_deficiency'] | GATGTTTTGCCACATGCACACAATGTGGAATGATTGAATCAAGCCAATTAACCTAGGCATCATCTCACTTACCTAATATTTTTTCATGGTAAGACATTTAAAATTTACTCTCTTATTTTGGGAAAATTCTTTTTTTTTTTTTCTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGACACCACGCCCAGCTAATTTTGTATTTTTAATAGAGACGGG... | GATGTTTTGCCACATGCACACAATGTGGAATGATTGAATCAAGCCAATTAACCTAGGCATCATCTCACTTACCTAATATTTTTTCATGGTAAGACATTTAAAATTTACTCTCTTATTTTGGGAAAATTCTTTTTTTTTTTTTCTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGACACCACGCCCAGCTAATTTTGTATTTTTAATAGAGACGGG... | pathogenic | 77,212 |
Chromosome 3, position 184137714, gene EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Leukoencephalopathy_with_vanishing_white_matter_5'] | TGCCCTTGAAGGACCTGCGTCTATGCTGTTATCCTAAAACCGGATGCAGAGGGACTGTCTAAACCCTGATGACTGCTGACCAAGTTAGTGGCCGGCAGATTTGGGCATTCGTAATGCTGTCCACCTCGGGTTTGAAAGGAATGAAGAGAGCTAAATGTAGAAACAGCGCTTGAGAGAAGCCTTCACGCGGGGATTCAGTGCCCCTAGAAGAGGCTGCGCCGCTTTTAACCTTGCCGATGACGGTTGCTTAGGTGAAAAGAAACGACCTTTTGCCTCTGAAAGGGCGGTAATATGCCTTAAAAAGAGCGGGCTAGATCTCA... | TGCCCTTGAAGGACCTGCGTCTATGCTGTTATCCTAAAACCGGATGCAGAGGGACTGTCTAAACCCTGATGACTGCTGACCAAGTTAGTGGCCGGCAGATTTGGGCATTCGTAATGCTGTCCACCTCGGGTTTGAAAGGAATGAAGAGAGCTAAATGTAGAAACAGCGCTTGAGAGAAGCCTTCACGCGGGGATTCAGTGCCCCTAGAAGAGGCTGCGCCGCTTTTAACCTTGCCGATGACGGTTGCTTAGGTGAAAAGAAACGACCTTTTGCCTCTGAAAGGGCGGTAATATGCCTTAAAAAGAGCGGGCTAGATCTCA... | pathogenic | 77,260 |
Does the chromosome 3 mutation at position 184143091 within gene EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Vanishing_white_matter_disease'] | TACATTGTTACATTTAATCTTCATAATTTACAAATAAACAGGCTCAACAAGATTTTCTTGCCCAAGGTCATTGGTAATAATGGTGGGACCTGAATCTGGGTATTCTGAATGTAAGTCCAGTGTTCTTTTGAGTCTACCATAACTGCCTGGTTGGCCTCTTGGTATCTCATTTTGGTTGCAGGAGTGTGATGCGTCTAATAGTACTGCCCCTTTCCAAGAACAACAGTAAGGCTCAGATTCTAGGGGCTGAGCGTGGTGGCTCATGCTTGTAATCCTAGCACACTGGGAAGCCATGGTGGGAGGATCGCTTGAGCCCAGGA... | TACATTGTTACATTTAATCTTCATAATTTACAAATAAACAGGCTCAACAAGATTTTCTTGCCCAAGGTCATTGGTAATAATGGTGGGACCTGAATCTGGGTATTCTGAATGTAAGTCCAGTGTTCTTTTGAGTCTACCATAACTGCCTGGTTGGCCTCTTGGTATCTCATTTTGGTTGCAGGAGTGTGATGCGTCTAATAGTACTGCCCCTTTCCAAGAACAACAGTAAGGCTCAGATTCTAGGGGCTGAGCGTGGTGGCTCATGCTTGTAATCCTAGCACACTGGGAAGCCATGGTGGGAGGATCGCTTGAGCCCAGGA... | pathogenic | 77,290 |
Classify the chromosome 3 variant at position 184143504 affecting gene EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Leukoencephalopathy_with_vanishing_white_matter_5'] | CTATTCGGGAGGCTGAGGCAGGAGGATTACCTGAGCCCAGAGGTCGAGGGTGCAGTGAGTCATGATCATACTACTGCACTCCAGCCTGGGTGATGGAATGAGACCGTGTCTCAAAAGAAAAAAAAGACTTGGTTTCTAAAATGTACCAGAAGAGGTGGAATTATTTGGTTCTGCTTGTAGGCGTGGATATGATTCTAATAAGGTTTTTTGAGTTCAGAGGGTCCCCAGAAATCCTGAAGGTTCTCGGGTTCTTAAGCTCTGTGTGTAGTCTATAATTGTTGTAAACTTGGTGAAGTATCTTCTCAGGCCTGGGCTTAGGG... | CTATTCGGGAGGCTGAGGCAGGAGGATTACCTGAGCCCAGAGGTCGAGGGTGCAGTGAGTCATGATCATACTACTGCACTCCAGCCTGGGTGATGGAATGAGACCGTGTCTCAAAAGAAAAAAAAGACTTGGTTTCTAAAATGTACCAGAAGAGGTGGAATTATTTGGTTCTGCTTGTAGGCGTGGATATGATTCTAATAAGGTTTTTTGAGTTCAGAGGGTCCCCAGAAATCCTGAAGGTTCTCGGGTTCTTAAGCTCTGTGTGTAGTCTATAATTGTTGTAAACTTGGTGAAGTATCTTCTCAGGCCTGGGCTTAGGG... | pathogenic | 77,294 |
Gene mutation in EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon) at chromosome 3, position 184144187—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Leukoencephalopathy_with_vanishing_white_matter_5'] | TTATTTCCACCCATAATCCTGTCTAAAAAAGTTGCTCTCATTATCAGGATGCACTTTTCCTCCACACCCTAATGGTTCTGTGTTTTTTTTCCCCTTAGGTGGTCGTGGGCCCAAATATCACGCTGCCTGAGGGCTCGGTGATCTCTTTGCACCCTCCAGATGCAGAGGAAGATGAAGATGATGGCGAGTTCAGTGATGATTCTGGGGCTGACCAAGAAAAGGACAAAGTGAAGATGAAAGGTGTGAGACTCAACAGGTGTGGGGCATCTGTGTGTCTCGCTGCCTCATAGAAGAACCAGTGTTTCCTCCTGGAGGGATTG... | TTATTTCCACCCATAATCCTGTCTAAAAAAGTTGCTCTCATTATCAGGATGCACTTTTCCTCCACACCCTAATGGTTCTGTGTTTTTTTTCCCCTTAGGTGGTCGTGGGCCCAAATATCACGCTGCCTGAGGGCTCGGTGATCTCTTTGCACCCTCCAGATGCAGAGGAAGATGAAGATGATGGCGAGTTCAGTGATGATTCTGGGGCTGACCAAGAAAAGGACAAAGTGAAGATGAAAGGTGTGAGACTCAACAGGTGTGGGGCATCTGTGTGTCTCGCTGCCTCATAGAAGAACCAGTGTTTCCTCCTGGAGGGATTG... | pathogenic | 77,300 |
Variant at chromosome 3, position 184352006, gene CLCN2 (chloride voltage-gated channel 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TGTTTTCTCTCTCTTATCTGAATGTTCCCCTCCTGAACTTAATTGGGCGACTACCTATTGATTCCTCAGGCCTGTAAGGACATTTTGAATTCTAATCTTTTATGTTCTTATCACTTCTAGTTCTTTGTACTTTTGTTAGTTGGTTCCTCAAAGACTTCTTCTCTTCTGATTTTTAAGTTTGTAACAAATATCTACTTTGTTCTTTTTCATTTAATTCAATTAGACATCATGGAACCCATTGGAGGGCCCATACTTCTTGGGCCTGGGAACAGTGAACTGACATGGAGAGGGACAACATGGCCTTCTGAAAGAATCCTGGG... | TGTTTTCTCTCTCTTATCTGAATGTTCCCCTCCTGAACTTAATTGGGCGACTACCTATTGATTCCTCAGGCCTGTAAGGACATTTTGAATTCTAATCTTTTATGTTCTTATCACTTCTAGTTCTTTGTACTTTTGTTAGTTGGTTCCTCAAAGACTTCTTCTCTTCTGATTTTTAAGTTTGTAACAAATATCTACTTTGTTCTTTTTCATTTAATTCAATTAGACATCATGGAACCCATTGGAGGGCCCATACTTCTTGGGCCTGGGAACAGTGAACTGACATGGAGAGGGACAACATGGCCTTCTGAAAGAATCCTGGG... | benign | 77,395 |
The mutation in gene CLCN2 (chloride voltage-gated channel 2) at chromosome 3, position 184355720—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Epilepsy,_idiopathic_generalized,_susceptibility_to,_11', 'Familial_hyperaldosteronism_type_II', 'Leukoencephalopathy_with_mild_cerebellar_ataxia_and_white_matter_edema'] | CACTAGGGCCAGCATTCGGCCCTTGGTCCTGTGCAGTGCCAAACGCAGGTCCCGGAAGGTGCAGCTGAGGGCCACATGGGGAACATCCCGCACCATGATGTCCTCCACACGCACCCGGTACTGCCTGGGGGCCGAGAGAGGCGCTTGGTTTGTGGTCAGCATGGGGAGAGGTGCCCAGAGCATTGCCATCCCAGGGCCACAAGGAGGGCTCCAGAGCCCATCCATGGGGACGGGAGCTAAGGACCAAGGGGTGCTCCCACCCTTCTTTCTGAACAGCAGGGGCCAGCTACAGCCCCTCCAGAGTGTGGACGAAGGTGGCT... | CACTAGGGCCAGCATTCGGCCCTTGGTCCTGTGCAGTGCCAAACGCAGGTCCCGGAAGGTGCAGCTGAGGGCCACATGGGGAACATCCCGCACCATGATGTCCTCCACACGCACCCGGTACTGCCTGGGGGCCGAGAGAGGCGCTTGGTTTGTGGTCAGCATGGGGAGAGGTGCCCAGAGCATTGCCATCCCAGGGCCACAAGGAGGGCTCCAGAGCCCATCCATGGGGACGGGAGCTAAGGACCAAGGGGTGCTCCCACCCTTCTTTCTGAACAGCAGGGGCCAGCTACAGCCCCTCCAGAGTGTGGACGAAGGTGGCT... | pathogenic | 77,422 |
The chromosome 3, position 184357799 genetic variant in gene CLCN2 (chloride voltage-gated channel 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['CLCN2-related_disorder', 'Epilepsy,_idiopathic_generalized,_susceptibility_to,_11', 'Familial_hyperaldosteronism_type_II', 'Leukoencephalopathy_with_mild_cerebellar_ataxia_and_white_matter_edema'] | GGTCACCAGAGCCGGGAAGAGCAGGCGTCTAGAGTCGTAGGTTTCACATCAGTCGTGGGTGGCCAAGGGCTGGGTGGCCTCGCATATCTCAGGGCTGAGGTCAGAGCAGAGCCTTGGCTCTTTCATGAAAACACTCAGTCCTGACAGAAGGTCTCCTTTGCTGTTTATGATACGATAGCCCCAAGGCTGATGGTGGACTGGGGTTATTCTAAGAGCAGGGGTCTGACCCAAAGACCTTTCTGTCAGCCCCTGACTCTGTAGGTGGGTAGCAGCAGCAGAAAGTCCATCCTCCAAGCCCTCCCTTGGGGCCCTCCGAGTTG... | GGTCACCAGAGCCGGGAAGAGCAGGCGTCTAGAGTCGTAGGTTTCACATCAGTCGTGGGTGGCCAAGGGCTGGGTGGCCTCGCATATCTCAGGGCTGAGGTCAGAGCAGAGCCTTGGCTCTTTCATGAAAACACTCAGTCCTGACAGAAGGTCTCCTTTGCTGTTTATGATACGATAGCCCCAAGGCTGATGGTGGACTGGGGTTATTCTAAGAGCAGGGGTCTGACCCAAAGACCTTTCTGTCAGCCCCTGACTCTGTAGGTGGGTAGCAGCAGCAGAAAGTCCATCCTCCAAGCCCTCCCTTGGGGCCCTCCGAGTTG... | pathogenic | 77,431 |
Does the genetic variant at chromosome 3, position 184373595, impacting gene THPO (thrombopoietin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TAGAGATCCCCTAGCAGAGTTTATGGTGGTCACACAGAGCTGCTTTTTAGATGCATTTGCGGGAACTGGGAAATGAGCCTTCAACTTGTACTTGACTTGTACTTGTTCTCCTGCTGTGTGAGCTCAAGGAGCCTGACTCATGCCACTTCCTGCACTTCCTCCTGACCTCCACAGGAGGGAGGCAGGCGTCCATGCCTGGCAAAGCCTCCTGCTGAGCTGCCAAAGCTCTAGCTGTTTGCTCAGCTGTCACATCCAGGTCCTGTCTTTACTGAACTGTCTACACAGCCTTACCTGGGGTGTGAGGCTCTCCAAGGCTTCCT... | TAGAGATCCCCTAGCAGAGTTTATGGTGGTCACACAGAGCTGCTTTTTAGATGCATTTGCGGGAACTGGGAAATGAGCCTTCAACTTGTACTTGACTTGTACTTGTTCTCCTGCTGTGTGAGCTCAAGGAGCCTGACTCATGCCACTTCCTGCACTTCCTCCTGACCTCCACAGGAGGGAGGCAGGCGTCCATGCCTGGCAAAGCCTCCTGCTGAGCTGCCAAAGCTCTAGCTGTTTGCTCAGCTGTCACATCCAGGTCCTGTCTTTACTGAACTGTCTACACAGCCTTACCTGGGGTGTGAGGCTCTCCAAGGCTTCCT... | benign | 77,451 |
Regarding the variant at chromosome 3 and position 185519238, affecting gene LIPH (lipase H): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['LIPH-related_disorder'] | GATTAATATGTATTATACAAACATAAAAGCAACTGAGGTAGCAAGAACATTGAGTTTGACTGTATCCACCACTTCTGAGAGAAACTCCATCCCACCTCCATCCCCCATGGTGAGGGCCTGCAGGGTGACCCATCTTGCTGGCCAACCCTGTCCCTAAGAGCTGAAGGGCAACAGGACCCTCCAGTTGTTTTCCCCCTTTACTGGTTCTCAGTAGCAGGGTGGAGAGGTGTGGGGTGTGGCACACACTGGTGTGGACTAAAAATAACACTGACATTTTTCAGTAATACATTCATTTTCTAGATTAAAACAGATTCAAGTTC... | GATTAATATGTATTATACAAACATAAAAGCAACTGAGGTAGCAAGAACATTGAGTTTGACTGTATCCACCACTTCTGAGAGAAACTCCATCCCACCTCCATCCCCCATGGTGAGGGCCTGCAGGGTGACCCATCTTGCTGGCCAACCCTGTCCCTAAGAGCTGAAGGGCAACAGGACCCTCCAGTTGTTTTCCCCCTTTACTGGTTCTCAGTAGCAGGGTGGAGAGGTGTGGGGTGTGGCACACACTGGTGTGGACTAAAAATAACACTGACATTTTTCAGTAATACATTCATTTTCTAGATTAAAACAGATTCAAGTTC... | pathogenic | 77,497 |
Gene LIPH (lipase H) variant at chromosome 3, position 185524128—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hypotrichosis_7', 'LIPH-related_disorder', 'Woolly_hair,_autosomal_recessive_2,_with_or_without_hypotrichosis'] | TTCAGTAAGGATGACACCAGGTTCAAAAGGCTAAAGAAGATACCTAGAGCCAGTGAACAAGACCTACAGCTTATTGGAGGAACTTACATACAGGGACCGTCCAGTGACAACAAGCCGGACATAAGAACTGCAACCACTTGTAAAAAGCATGCAGTTGTTACAGCATCTTCACTTAGCACCCTCACCCTACCCAGCAACCTCCACATGGCAACCCTCATTACTGAAGTGTTGTTGTCAGCTGTGTCTGCCGTAAGGGTCATTCTCAGGGTATGCTGACGTTATTGCTGTCAGGTGTAGCTCACACCTGTAATCCTAACACT... | TTCAGTAAGGATGACACCAGGTTCAAAAGGCTAAAGAAGATACCTAGAGCCAGTGAACAAGACCTACAGCTTATTGGAGGAACTTACATACAGGGACCGTCCAGTGACAACAAGCCGGACATAAGAACTGCAACCACTTGTAAAAAGCATGCAGTTGTTACAGCATCTTCACTTAGCACCCTCACCCTACCCAGCAACCTCCACATGGCAACCCTCATTACTGAAGTGTTGTTGTCAGCTGTGTCTGCCGTAAGGGTCATTCTCAGGGTATGCTGACGTTATTGCTGTCAGGTGTAGCTCACACCTGTAATCCTAACACT... | pathogenic | 77,500 |
Variant in DNAJB11 (DnaJ heat shock protein family (Hsp40) member B11), chromosome 3, position 186577628—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TATTTTTTAGTGACTACACGAGTTTTGAGAACTTTAAATTAAAAACATGAATGGAGCAATGTGGAATGAACAGTGCATCAAAGAATTTAGTCTTAGAGAAAATAACTTTGTAAATATGCCTTAATACAGTACATAATGGAAACTGCATTCTATTAAAATTTTAGACCCACTGTCAAAGTAAAAACAAACATAAATATGACTGTGCCTTAACTGGATATTACCAACTCATGATCTTTTCCTCCACTGGCTTTTATCCCCAGGTTCTGTCAGATAGTGAGAAACGGAAACAGTACGATACTTATGGTGAAGAAGGATTAAAA... | TATTTTTTAGTGACTACACGAGTTTTGAGAACTTTAAATTAAAAACATGAATGGAGCAATGTGGAATGAACAGTGCATCAAAGAATTTAGTCTTAGAGAAAATAACTTTGTAAATATGCCTTAATACAGTACATAATGGAAACTGCATTCTATTAAAATTTTAGACCCACTGTCAAAGTAAAAACAAACATAAATATGACTGTGCCTTAACTGGATATTACCAACTCATGATCTTTTCCTCCACTGGCTTTTATCCCCAGGTTCTGTCAGATAGTGAGAAACGGAAACAGTACGATACTTATGGTGAAGAAGGATTAAAA... | benign | 77,533 |
A genetic variant at chromosome 3, position 189738631, affecting gene TP63 (tumor protein p63)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CATCAATTCCTAGAAGATGAGACAGTATTATACACTTTTTATTTCCAGTTTCCATTATGCTTCCTGGCAAATAAGTCCTCTATGCATGTTTAACTTGAGCAAATGAATGTGCTATTGCAGGTAGCTTGGAAATCAGCATTCATAAATCTAATAGTATTATCTTCTACTGTATTACTAGACCAGAACACATATTTGAAATTTTAAGAAGATGATTGACTATCCTCATACAGTATTTTTCTAATTCTTTATAACAGGAACAGTAACACTTAAGAACTTAACTAATTTTATCCTGGGATAAAATTAGTCTACTGATTATCACA... | CATCAATTCCTAGAAGATGAGACAGTATTATACACTTTTTATTTCCAGTTTCCATTATGCTTCCTGGCAAATAAGTCCTCTATGCATGTTTAACTTGAGCAAATGAATGTGCTATTGCAGGTAGCTTGGAAATCAGCATTCATAAATCTAATAGTATTATCTTCTACTGTATTACTAGACCAGAACACATATTTGAAATTTTAAGAAGATGATTGACTATCCTCATACAGTATTTTTCTAATTCTTTATAACAGGAACAGTAACACTTAAGAACTTAACTAATTTTATCCTGGGATAAAATTAGTCTACTGATTATCACA... | benign | 77,675 |
Variant at chromosome 3, position 189789729, gene TP63: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CCCTGAGCCTTAGATTTAGGTGTTCAAATGGCTACATGATCCCATTAGTGTAAAAAACAATTTAATAATGACTTTGGTAGGCAGTTGTGCTAACAGCATTTCCTCTAGATCATTGATTCCCAAGCGTGACTCATCCAGAACCGCCTAGCAGGCTGTATAAAATCCAGTTGTTGGGGCTGTAACCCTGCAGAGTCTGATTCAGGAGGTCTGGGGCCACGTCCAGAAATCTGTTTTTAAAAAGCACCCTGGATGATTTTCAGGATCATCCAAGTTTTTGGGCCACAGGAATTATGCATACCTTTAAGGAAGTAACCATCTGC... | CCCTGAGCCTTAGATTTAGGTGTTCAAATGGCTACATGATCCCATTAGTGTAAAAAACAATTTAATAATGACTTTGGTAGGCAGTTGTGCTAACAGCATTTCCTCTAGATCATTGATTCCCAAGCGTGACTCATCCAGAACCGCCTAGCAGGCTGTATAAAATCCAGTTGTTGGGGCTGTAACCCTGCAGAGTCTGATTCAGGAGGTCTGGGGCCACGTCCAGAAATCTGTTTTTAAAAAGCACCCTGGATGATTTTCAGGATCATCCAAGTTTTTGGGCCACAGGAATTATGCATACCTTTAAGGAAGTAACCATCTGC... | benign | 77,682 |
Variant in gene TP63 (tumor protein p63), located at chromosome 3 position 189867919: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['TP63-related_disorder'] | CATTTTTTAAACATAAAAATTGTTTTTAGTTTTAACCATAATAGATGATGCAGCAGAGAACATTTTGATATGCTTCACTTTTTACTTTTATTGAATGGTTTTTGTAGACTGGGACTATAGGACCTAAGAGCTGTTAAAAACAGCTTTACGGGTCCCAGTTCTTGGAGCATCTTCTTTTTTTTGGAGCTCTGCTAAATATCACAATTTTATGAAACTTTACTCAGTCTCTTTTTTAAAATTGCATCCCTTTTCTTACACCCAACTTGGGACTCCTTCAACACACAAACACCAGAACGTTTCTTATCTTTATAATCAACACA... | CATTTTTTAAACATAAAAATTGTTTTTAGTTTTAACCATAATAGATGATGCAGCAGAGAACATTTTGATATGCTTCACTTTTTACTTTTATTGAATGGTTTTTGTAGACTGGGACTATAGGACCTAAGAGCTGTTAAAAACAGCTTTACGGGTCCCAGTTCTTGGAGCATCTTCTTTTTTTTGGAGCTCTGCTAAATATCACAATTTTATGAAACTTTACTCAGTCTCTTTTTTAAAATTGCATCCCTTTTCTTACACCCAACTTGGGACTCCTTCAACACACAAACACCAGAACGTTTCTTATCTTTATAATCAACACA... | pathogenic | 77,706 |
Assess the variant on chromosome 3, position 189897039, impacting TP63 (tumor protein p63): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GGTATCATGTATGGTGATAGGTATCTAGAGCTTAATGCTACATGTGAGTGACGATGATGTACAGATTCTTTCAGTTCTTTGGATTCTAAATACATGCCACATCAAACCTTTGAGTAGATCCATTTCCATTGCTTATTATGTAGGTAAGACTGTAGATATGTATTCTTTTCTCAGTGTTGGTATATTTTATATTACTGACATTTCTTCTAGTGATGATGGTTCACGTTGGGGTGATTTAATCCAGTTATAAGAAGAAGTTCATGTCCAAACGTCCTCTTTAGTTTTTGGTTGGGAATGAGGAAAATTCTTAAAAGGCCCAT... | GGTATCATGTATGGTGATAGGTATCTAGAGCTTAATGCTACATGTGAGTGACGATGATGTACAGATTCTTTCAGTTCTTTGGATTCTAAATACATGCCACATCAAACCTTTGAGTAGATCCATTTCCATTGCTTATTATGTAGGTAAGACTGTAGATATGTATTCTTTTCTCAGTGTTGGTATATTTTATATTACTGACATTTCTTCTAGTGATGATGGTTCACGTTGGGGTGATTTAATCCAGTTATAAGAAGAAGTTCATGTCCAAACGTCCTCTTTAGTTTTTGGTTGGGAATGAGGAAAATTCTTAAAAGGCCCAT... | benign | 77,753 |
Located at chromosome 3 position 189897137, the variant affecting gene TP63 (tumor protein p63)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | ACATCAAACCTTTGAGTAGATCCATTTCCATTGCTTATTATGTAGGTAAGACTGTAGATATGTATTCTTTTCTCAGTGTTGGTATATTTTATATTACTGACATTTCTTCTAGTGATGATGGTTCACGTTGGGGTGATTTAATCCAGTTATAAGAAGAAGTTCATGTCCAAACGTCCTCTTTAGTTTTTGGTTGGGAATGAGGAAAATTCTTAAAAGGCCCATAGCAGCCAGTTCAAAAACACCCGACGTCATGTATTTGAGCATATCAGTAACCCCCTTAAATTTAATACCAGATACCTTATCTTACAATATTGATTGGG... | ACATCAAACCTTTGAGTAGATCCATTTCCATTGCTTATTATGTAGGTAAGACTGTAGATATGTATTCTTTTCTCAGTGTTGGTATATTTTATATTACTGACATTTCTTCTAGTGATGATGGTTCACGTTGGGGTGATTTAATCCAGTTATAAGAAGAAGTTCATGTCCAAACGTCCTCTTTAGTTTTTGGTTGGGAATGAGGAAAATTCTTAAAAGGCCCATAGCAGCCAGTTCAAAAACACCCGACGTCATGTATTTGAGCATATCAGTAACCCCCTTAAATTTAATACCAGATACCTTATCTTACAATATTGATTGGG... | benign | 77,754 |
Clinical significance of chromosome 3, position 189971980, gene P3H2 (prolyl 3-hydroxylase 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | GCAGCAGTCGAAAATATATTTTTCTACCATTGTGTATGCTCTTTGGCTTGAAGACCAAAGGATGCTAACTATATGGTCTTTAAGTAGGCTTCTTTCCAAAGGCACGGGTTTACTTAGGAAGATGGTCGTTGAATTGAACTTTTGATTTACTCTTTGTTTACATATTTGTGTGTGTGTGTGTGTGTGTGTATCAATTTTCAGGTATGAGTTTATTACATACAGTCACAATCATATATCTCTCTATGCATATATATATGCAAATATATATATATATATATATATATATATATATGAGGCCATGTCTGCATGGGAAAGGAAGC... | GCAGCAGTCGAAAATATATTTTTCTACCATTGTGTATGCTCTTTGGCTTGAAGACCAAAGGATGCTAACTATATGGTCTTTAAGTAGGCTTCTTTCCAAAGGCACGGGTTTACTTAGGAAGATGGTCGTTGAATTGAACTTTTGATTTACTCTTTGTTTACATATTTGTGTGTGTGTGTGTGTGTGTGTATCAATTTTCAGGTATGAGTTTATTACATACAGTCACAATCATATATCTCTCTATGCATATATATATGCAAATATATATATATATATATATATATATATATATGAGGCCATGTCTGCATGGGAAAGGAAGC... | pathogenic | 77,765 |
Variant on chromosome 3, at position 189973027, affecting P3H2 (prolyl 3-hydroxylase 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CAGCCTCCATTAGTAAGTTTCCTTTGAACTAGACATTGATATAATTGGTCCTCCAAACTCTTAAAGAGAAGATCAGATAGAGTTTGAGTTATACCTCTGAAGAGTTTACTTATTCCACCTTTACTAAAATTGTAATCATATGTCAAAGCTTGTCTCACATTTCACTTCCTCCACAGAAAACCTAACTAGTTTTAATTTAATCTAGCCCTTTGAACGTGCCCACCCTAATTACAACTCTCTTTTTCCCTTATATAACTCTAAAGGATTTTTGTTTGTTTGTTTGCTTTGTTCTTGTTGTTGTTTTTCTCTTTAACTTGCTG... | CAGCCTCCATTAGTAAGTTTCCTTTGAACTAGACATTGATATAATTGGTCCTCCAAACTCTTAAAGAGAAGATCAGATAGAGTTTGAGTTATACCTCTGAAGAGTTTACTTATTCCACCTTTACTAAAATTGTAATCATATGTCAAAGCTTGTCTCACATTTCACTTCCTCCACAGAAAACCTAACTAGTTTTAATTTAATCTAGCCCTTTGAACGTGCCCACCCTAATTACAACTCTCTTTTTCCCTTATATAACTCTAAAGGATTTTTGTTTGTTTGTTTGCTTTGTTCTTGTTGTTGTTTTTCTCTTTAACTTGCTG... | benign | 77,768 |
Gene P3H2 (prolyl 3-hydroxylase 2) variant at chromosome position 189973037 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TAGTAAGTTTCCTTTGAACTAGACATTGATATAATTGGTCCTCCAAACTCTTAAAGAGAAGATCAGATAGAGTTTGAGTTATACCTCTGAAGAGTTTACTTATTCCACCTTTACTAAAATTGTAATCATATGTCAAAGCTTGTCTCACATTTCACTTCCTCCACAGAAAACCTAACTAGTTTTAATTTAATCTAGCCCTTTGAACGTGCCCACCCTAATTACAACTCTCTTTTTCCCTTATATAACTCTAAAGGATTTTTGTTTGTTTGTTTGCTTTGTTCTTGTTGTTGTTTTTCTCTTTAACTTGCTGAAGAGTTCCT... | TAGTAAGTTTCCTTTGAACTAGACATTGATATAATTGGTCCTCCAAACTCTTAAAGAGAAGATCAGATAGAGTTTGAGTTATACCTCTGAAGAGTTTACTTATTCCACCTTTACTAAAATTGTAATCATATGTCAAAGCTTGTCTCACATTTCACTTCCTCCACAGAAAACCTAACTAGTTTTAATTTAATCTAGCCCTTTGAACGTGCCCACCCTAATTACAACTCTCTTTTTCCCTTATATAACTCTAAAGGATTTTTGTTTGTTTGTTTGCTTTGTTCTTGTTGTTGTTTTTCTCTTTAACTTGCTGAAGAGTTCCT... | benign | 77,770 |
Regarding the variant found on chromosome 3 at position 189974681 in gene P3H2 (prolyl 3-hydroxylase 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic | AGCAATTGGGGAAAATTGATTTGGAAGGGAAAATGTTCAGAACGAGGGTTTTCTGGAACTTCAGAAGAACAAAAGGAAGAAAAAGAAAGAAGCAGAATAAGAGTTCATAAGCTACTTTTGTTTTGGAAATCTAGAATTCGTCTAAAATATTAATCTACCATGCTGTTGAGCTTTGTTTTGCCTTGTTTCATTTCCCAATGTATTGTGGGTAAAAGGGAACCATTTCAGACTGCAATCTCACCAGACAGGGCTGTTCGGCAGACCATGTGTGTATAGGAAAAATACAGAGTTGAGTTCAGCATAAAATAAGATTCTACAAT... | AGCAATTGGGGAAAATTGATTTGGAAGGGAAAATGTTCAGAACGAGGGTTTTCTGGAACTTCAGAAGAACAAAAGGAAGAAAAAGAAAGAAGCAGAATAAGAGTTCATAAGCTACTTTTGTTTTGGAAATCTAGAATTCGTCTAAAATATTAATCTACCATGCTGTTGAGCTTTGTTTTGCCTTGTTTCATTTCCCAATGTATTGTGGGTAAAAGGGAACCATTTCAGACTGCAATCTCACCAGACAGGGCTGTTCGGCAGACCATGTGTGTATAGGAAAAATACAGAGTTGAGTTCAGCATAAAATAAGATTCTACAAT... | pathogenic | 77,782 |
Considering the variant on chromosome 3, location 189984606, involving gene P3H2 (prolyl 3-hydroxylase 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TCCATGCATCCTACTACATTCTGCTTTCTCTAAAGGCCCTGCTCAGATCTATGTGCTTCAAGCATCTAAGGTTAACTAATCTAATATCCCATGTGGCTGGTCTCCTCTCCAAGTTCCTCTGATATACAGTCTGTCCCACACTACCTAGCTCTTACTGACTGTGTAACAGAAGTAAACCATAGGAAATTGCTAAGCCTCCGGTATTCTGAGAATGGTGATGACCATGCAAGTTTCCTTGGGAAACAGATGAGGGAGTGAATTTGGAGGCTTTTTCTTTTTTTCTTTTTTTTTGAAACCCATGGTAATAATACACAAATCTA... | TCCATGCATCCTACTACATTCTGCTTTCTCTAAAGGCCCTGCTCAGATCTATGTGCTTCAAGCATCTAAGGTTAACTAATCTAATATCCCATGTGGCTGGTCTCCTCTCCAAGTTCCTCTGATATACAGTCTGTCCCACACTACCTAGCTCTTACTGACTGTGTAACAGAAGTAAACCATAGGAAATTGCTAAGCCTCCGGTATTCTGAGAATGGTGATGACCATGCAAGTTTCCTTGGGAAACAGATGAGGGAGTGAATTTGGAGGCTTTTTCTTTTTTTCTTTTTTTTTGAAACCCATGGTAATAATACACAAATCTA... | benign | 77,792 |
Is the genetic mutation found on chromosome 3 at position 189984606, within the gene P3H2 (prolyl 3-hydroxylase 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCCATGCATCCTACTACATTCTGCTTTCTCTAAAGGCCCTGCTCAGATCTATGTGCTTCAAGCATCTAAGGTTAACTAATCTAATATCCCATGTGGCTGGTCTCCTCTCCAAGTTCCTCTGATATACAGTCTGTCCCACACTACCTAGCTCTTACTGACTGTGTAACAGAAGTAAACCATAGGAAATTGCTAAGCCTCCGGTATTCTGAGAATGGTGATGACCATGCAAGTTTCCTTGGGAAACAGATGAGGGAGTGAATTTGGAGGCTTTTTCTTTTTTTCTTTTTTTTTGAAACCCATGGTAATAATACACAAATCTA... | TCCATGCATCCTACTACATTCTGCTTTCTCTAAAGGCCCTGCTCAGATCTATGTGCTTCAAGCATCTAAGGTTAACTAATCTAATATCCCATGTGGCTGGTCTCCTCTCCAAGTTCCTCTGATATACAGTCTGTCCCACACTACCTAGCTCTTACTGACTGTGTAACAGAAGTAAACCATAGGAAATTGCTAAGCCTCCGGTATTCTGAGAATGGTGATGACCATGCAAGTTTCCTTGGGAAACAGATGAGGGAGTGAATTTGGAGGCTTTTTCTTTTTTTCTTTTTTTTTGAAACCCATGGTAATAATACACAAATCTA... | benign | 77,793 |
Is the genetic mutation found on chromosome 3 at position 189995450, within the gene P3H2 (prolyl 3-hydroxylase 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ATTTTACACTTATATTGTTATTACAAATACAATTTATTTTTGTGTAAGGCATACAGCAGAGACCCCACTTTCTCCTCATAAGTGGTTAACTAGCCAATCTCCCAAATTATTCTATAATGTGCATTACCTAGTATTTTAAATGCCGCTTTGTAATATATTAAATTCTTATTAAGTAATAAAACATTTTAAGTAGTTGAAGACTACACAAAAGTGTTCACTACTACATTGTTTATAATAATGAAAAATTTCAGCCTCTTAAACACTCATCACTAAAGGACTAGTCAATTAAATTATGATGCGTTTATATAACAGAGCATTAC... | ATTTTACACTTATATTGTTATTACAAATACAATTTATTTTTGTGTAAGGCATACAGCAGAGACCCCACTTTCTCCTCATAAGTGGTTAACTAGCCAATCTCCCAAATTATTCTATAATGTGCATTACCTAGTATTTTAAATGCCGCTTTGTAATATATTAAATTCTTATTAAGTAATAAAACATTTTAAGTAGTTGAAGACTACACAAAAGTGTTCACTACTACATTGTTTATAATAATGAAAAATTTCAGCCTCTTAAACACTCATCACTAAAGGACTAGTCAATTAAATTATGATGCGTTTATATAACAGAGCATTAC... | benign | 77,805 |
Clinically, how would you classify the variant at chromosome 3, position 190120434, gene P3H2: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Myopia,_high,_with_cataract_and_vitreoretinal_degeneration'] | CTGCTCTGGGAACTAGCTTATGATAACTTCACCGTCAGACACTCAAGGTCCCCTCTCTGCCTGGTGTTGACTGATTTCTGTAAGACCACCAGAAATTGTGTAAATCACTTAGAAGAAATTAGAGTTATACTTCATACATGCCTTAGCAATCAGGAGGCACAAGCAAGCAGAAGACAAGTCCTGGAAAGGATTCAGACTTTCTCCTCATTTCTTGCCCAAGATACTAGTCCAGTGAACTCCAACACCTTAGCCACAACACAAGGAAGTTAAGATTTATACTTAGTTGAAATTTCGTGCACTCCACCAACAGTTGCCAATCT... | CTGCTCTGGGAACTAGCTTATGATAACTTCACCGTCAGACACTCAAGGTCCCCTCTCTGCCTGGTGTTGACTGATTTCTGTAAGACCACCAGAAATTGTGTAAATCACTTAGAAGAAATTAGAGTTATACTTCATACATGCCTTAGCAATCAGGAGGCACAAGCAAGCAGAAGACAAGTCCTGGAAAGGATTCAGACTTTCTCCTCATTTCTTGCCCAAGATACTAGTCCAGTGAACTCCAACACCTTAGCCACAACACAAGGAAGTTAAGATTTATACTTAGTTGAAATTTCGTGCACTCCACCAACAGTTGCCAATCT... | pathogenic | 77,810 |
Classify the chromosome 3 variant at position 192170663 affecting gene FGF12 (fibroblast growth factor 12) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TAAAGTTCTCTGGCGCATATATTCTTCTTTGTCTTTATAGTTTTCTATTCATTAATTCATTCACATGTTCACTTTTCAGACAACTGATTATCAAATATCTCTCTATGATATGCCAACTATTATAGAAGACAAAGGGAGATATGAAGAAAAATAAAACATGTTCTGTTCATTCAAAGAGTGAGCTAACCATGAATAAGAGGAGACAGAGTGGCATTGGGCAAATTTAATGTCATAATTTCTATGGGAGAGAAATGTATGCAATGACAAGCTGACCGAATGTTTAGTTCTACTTGAAGAAAGTCAAGAAGGCCATCATGGAA... | TAAAGTTCTCTGGCGCATATATTCTTCTTTGTCTTTATAGTTTTCTATTCATTAATTCATTCACATGTTCACTTTTCAGACAACTGATTATCAAATATCTCTCTATGATATGCCAACTATTATAGAAGACAAAGGGAGATATGAAGAAAAATAAAACATGTTCTGTTCATTCAAAGAGTGAGCTAACCATGAATAAGAGGAGACAGAGTGGCATTGGGCAAATTTAATGTCATAATTTCTATGGGAGAGAAATGTATGCAATGACAAGCTGACCGAATGTTTAGTTCTACTTGAAGAAAGTCAAGAAGGCCATCATGGAA... | benign | 77,923 |
Does the genetic variant at chromosome 3, position 192170663, impacting gene FGF12 (fibroblast growth factor 12), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TAAAGTTCTCTGGCGCATATATTCTTCTTTGTCTTTATAGTTTTCTATTCATTAATTCATTCACATGTTCACTTTTCAGACAACTGATTATCAAATATCTCTCTATGATATGCCAACTATTATAGAAGACAAAGGGAGATATGAAGAAAAATAAAACATGTTCTGTTCATTCAAAGAGTGAGCTAACCATGAATAAGAGGAGACAGAGTGGCATTGGGCAAATTTAATGTCATAATTTCTATGGGAGAGAAATGTATGCAATGACAAGCTGACCGAATGTTTAGTTCTACTTGAAGAAAGTCAAGAAGGCCATCATGGAA... | TAAAGTTCTCTGGCGCATATATTCTTCTTTGTCTTTATAGTTTTCTATTCATTAATTCATTCACATGTTCACTTTTCAGACAACTGATTATCAAATATCTCTCTATGATATGCCAACTATTATAGAAGACAAAGGGAGATATGAAGAAAAATAAAACATGTTCTGTTCATTCAAAGAGTGAGCTAACCATGAATAAGAGGAGACAGAGTGGCATTGGGCAAATTTAATGTCATAATTTCTATGGGAGAGAAATGTATGCAATGACAAGCTGACCGAATGTTTAGTTCTACTTGAAGAAAGTCAAGAAGGCCATCATGGAA... | benign | 77,924 |
The genetic variant at chromosome 3, position 192170663, affecting gene FGF12 (fibroblast growth factor 12): benign or pathogenic? Disease name(s) if pathogenic? | benign | TAAAGTTCTCTGGCGCATATATTCTTCTTTGTCTTTATAGTTTTCTATTCATTAATTCATTCACATGTTCACTTTTCAGACAACTGATTATCAAATATCTCTCTATGATATGCCAACTATTATAGAAGACAAAGGGAGATATGAAGAAAAATAAAACATGTTCTGTTCATTCAAAGAGTGAGCTAACCATGAATAAGAGGAGACAGAGTGGCATTGGGCAAATTTAATGTCATAATTTCTATGGGAGAGAAATGTATGCAATGACAAGCTGACCGAATGTTTAGTTCTACTTGAAGAAAGTCAAGAAGGCCATCATGGAA... | TAAAGTTCTCTGGCGCATATATTCTTCTTTGTCTTTATAGTTTTCTATTCATTAATTCATTCACATGTTCACTTTTCAGACAACTGATTATCAAATATCTCTCTATGATATGCCAACTATTATAGAAGACAAAGGGAGATATGAAGAAAAATAAAACATGTTCTGTTCATTCAAAGAGTGAGCTAACCATGAATAAGAGGAGACAGAGTGGCATTGGGCAAATTTAATGTCATAATTTCTATGGGAGAGAAATGTATGCAATGACAAGCTGACCGAATGTTTAGTTCTACTTGAAGAAAGTCAAGAAGGCCATCATGGAA... | benign | 77,925 |
Is the genetic variant on chromosome 3, position 193615025, gene OPA1 (OPA1 mitochondrial dynamin like GTPase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['OPA1-related_disorder'] | TCAGTGGGTACCTCACCAGGTCACCTGGTGTTCCAGGGGGTTGCCAGAGTTTTTCTTCAAATCCCACTTCTGACACCAGATCTGTTAAAAGAAAACTTCAGACAAGTTAAATTTGATGGAGTTTAATTAAGCAAGGAAAATAAACACTTTGCAAATCAGGCAGCCTCCAGAATTGAATGCAGTTTGAACACTTAGCAGTCTATTAGTGCTTGAAGTATGGCCACTGGGATTGGCCAACACTCAGCTATTATTACAGATGCATACTACTCAGGTTTTCCATTTTGTCTGCCTATTGTGCTAGGTTATGGTTTGTCCACAAG... | TCAGTGGGTACCTCACCAGGTCACCTGGTGTTCCAGGGGGTTGCCAGAGTTTTTCTTCAAATCCCACTTCTGACACCAGATCTGTTAAAAGAAAACTTCAGACAAGTTAAATTTGATGGAGTTTAATTAAGCAAGGAAAATAAACACTTTGCAAATCAGGCAGCCTCCAGAATTGAATGCAGTTTGAACACTTAGCAGTCTATTAGTGCTTGAAGTATGGCCACTGGGATTGGCCAACACTCAGCTATTATTACAGATGCATACTACTCAGGTTTTCCATTTTGTCTGCCTATTGTGCTAGGTTATGGTTTGTCCACAAG... | pathogenic | 77,967 |
Considering the variant on chromosome 3, location 193631615, involving gene OPA1 (OPA1 mitochondrial dynamin like GTPase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Optic_atrophy', 'Retinal_dystrophy'] | GCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGACCCCAGGAGGCAGAGCTTCCAGCCTGGGCGACTCCGTCTCAAAAAAAAAGAAAAAAGAAATTATATTTGTAATATTCTACTAACCTTATATCATTTTAACTTTTTATATAACTTTTTTATTTTACCAAATTAAGTTAACCTTTTATAGCCCTTGGCTTATACTAAACATCCTAACTTTTTTGTTTAATTGTATTAGTTTTTAAGTTATTGCCCCAGATGTCAAGTAATGTTGGATTTTCTATAATAATTTAGGATATATTGCATGA... | GCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGACCCCAGGAGGCAGAGCTTCCAGCCTGGGCGACTCCGTCTCAAAAAAAAAGAAAAAAGAAATTATATTTGTAATATTCTACTAACCTTATATCATTTTAACTTTTTATATAACTTTTTTATTTTACCAAATTAAGTTAACCTTTTATAGCCCTTGGCTTATACTAAACATCCTAACTTTTTTGTTTAATTGTATTAGTTTTTAAGTTATTGCCCCAGATGTCAAGTAATGTTGGATTTTCTATAATAATTTAGGATATATTGCATGA... | pathogenic | 77,985 |
Does the chromosome 3 mutation at position 193631620 within gene OPA1 (OPA1 mitochondrial dynamin like GTPase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_dominant_optic_atrophy_classic_form', 'Inborn_genetic_diseases', 'Optic_atrophy', 'Stargardt_disease'] | CACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGACCCCAGGAGGCAGAGCTTCCAGCCTGGGCGACTCCGTCTCAAAAAAAAAGAAAAAAGAAATTATATTTGTAATATTCTACTAACCTTATATCATTTTAACTTTTTATATAACTTTTTTATTTTACCAAATTAAGTTAACCTTTTATAGCCCTTGGCTTATACTAAACATCCTAACTTTTTTGTTTAATTGTATTAGTTTTTAAGTTATTGCCCCAGATGTCAAGTAATGTTGGATTTTCTATAATAATTTAGGATATATTGCATGAAGTCA... | CACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGACCCCAGGAGGCAGAGCTTCCAGCCTGGGCGACTCCGTCTCAAAAAAAAAGAAAAAAGAAATTATATTTGTAATATTCTACTAACCTTATATCATTTTAACTTTTTATATAACTTTTTTATTTTACCAAATTAAGTTAACCTTTTATAGCCCTTGGCTTATACTAAACATCCTAACTTTTTTGTTTAATTGTATTAGTTTTTAAGTTATTGCCCCAGATGTCAAGTAATGTTGGATTTTCTATAATAATTTAGGATATATTGCATGAAGTCA... | pathogenic | 77,986 |
Determine whether the variant at chromosome 3, position 193631622, in gene OPA1 (OPA1 mitochondrial dynamin like GTPase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic | CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGACCCCAGGAGGCAGAGCTTCCAGCCTGGGCGACTCCGTCTCAAAAAAAAAGAAAAAAGAAATTATATTTGTAATATTCTACTAACCTTATATCATTTTAACTTTTTATATAACTTTTTTATTTTACCAAATTAAGTTAACCTTTTATAGCCCTTGGCTTATACTAAACATCCTAACTTTTTTGTTTAATTGTATTAGTTTTTAAGTTATTGCCCCAGATGTCAAGTAATGTTGGATTTTCTATAATAATTTAGGATATATTGCATGAAGTCAGT... | CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGACCCCAGGAGGCAGAGCTTCCAGCCTGGGCGACTCCGTCTCAAAAAAAAAGAAAAAAGAAATTATATTTGTAATATTCTACTAACCTTATATCATTTTAACTTTTTATATAACTTTTTTATTTTACCAAATTAAGTTAACCTTTTATAGCCCTTGGCTTATACTAAACATCCTAACTTTTTTGTTTAATTGTATTAGTTTTTAAGTTATTGCCCCAGATGTCAAGTAATGTTGGATTTTCTATAATAATTTAGGATATATTGCATGAAGTCAGT... | pathogenic | 77,987 |
A genetic variant at chromosome 3, position 193637182, affecting gene OPA1 (OPA1 mitochondrial dynamin like GTPase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CTTACGTTTTCACTATTTCAAAATAATTTTTTCAATGTGAGTAGCAAGGAATTTTCCAAGTGAAATTCTTAATTATGATAGAAAATTACAATGATTTCCACTGTTTGTAAGAGATAATAGTCATTGTTTATTTTATTCCTAATGTTTTCGTAGATGCTTTTAAAATGTAATACATTTTAAATAGGAGATATGACTTCAAGATTTTGGAAGATTTTAATTTAGACTTAATACTATTTGATAACCCATCTTTTGCTTATATAGTTACACTTATTATTTTATTGCAGTTGAAGTATCAGAGAATCTTGGAACGATTAGAAAAG... | CTTACGTTTTCACTATTTCAAAATAATTTTTTCAATGTGAGTAGCAAGGAATTTTCCAAGTGAAATTCTTAATTATGATAGAAAATTACAATGATTTCCACTGTTTGTAAGAGATAATAGTCATTGTTTATTTTATTCCTAATGTTTTCGTAGATGCTTTTAAAATGTAATACATTTTAAATAGGAGATATGACTTCAAGATTTTGGAAGATTTTAATTTAGACTTAATACTATTTGATAACCCATCTTTTGCTTATATAGTTACACTTATTATTTTATTGCAGTTGAAGTATCAGAGAATCTTGGAACGATTAGAAAAG... | benign | 77,993 |
Is the genetic change at chromosome 3, position 193637200, within gene OPA1 (OPA1 mitochondrial dynamin like GTPase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | CAAAATAATTTTTTCAATGTGAGTAGCAAGGAATTTTCCAAGTGAAATTCTTAATTATGATAGAAAATTACAATGATTTCCACTGTTTGTAAGAGATAATAGTCATTGTTTATTTTATTCCTAATGTTTTCGTAGATGCTTTTAAAATGTAATACATTTTAAATAGGAGATATGACTTCAAGATTTTGGAAGATTTTAATTTAGACTTAATACTATTTGATAACCCATCTTTTGCTTATATAGTTACACTTATTATTTTATTGCAGTTGAAGTATCAGAGAATCTTGGAACGATTAGAAAAGGAGAACAAAGAATTGAGA... | CAAAATAATTTTTTCAATGTGAGTAGCAAGGAATTTTCCAAGTGAAATTCTTAATTATGATAGAAAATTACAATGATTTCCACTGTTTGTAAGAGATAATAGTCATTGTTTATTTTATTCCTAATGTTTTCGTAGATGCTTTTAAAATGTAATACATTTTAAATAGGAGATATGACTTCAAGATTTTGGAAGATTTTAATTTAGACTTAATACTATTTGATAACCCATCTTTTGCTTATATAGTTACACTTATTATTTTATTGCAGTTGAAGTATCAGAGAATCTTGGAACGATTAGAAAAGGAGAACAAAGAATTGAGA... | pathogenic | 77,995 |
The mutation impacting OPA1 (OPA1 mitochondrial dynamin like GTPase) on chromosome 3 at position 193642771: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | GAATCATTATGATTGTGTTTTGTTTTTTTCATGTTTAGCTGGTGGGGGGTAGGTGTAGAATAATTGGAAGATTGAAATTACCAAGAATTATGGCAAGAATAGTGGGAGAAAGACAGTGAGGCTGATGCTGAAATCTTCAAGAAATGAAATCTGTTTACAAGTGCAACAGGGTATGGGCAGCCTAGTGTGATTCATCTAGATTGCACTTTTGTGGGTCTAGCTATGGATTGAATCGTGTTATGTGTTACTAGTTCTGTGTGTGGTACTGTGTGACTGTACCAGACTTTACATATCCATTTTACTACCGATGGGAATTTGGG... | GAATCATTATGATTGTGTTTTGTTTTTTTCATGTTTAGCTGGTGGGGGGTAGGTGTAGAATAATTGGAAGATTGAAATTACCAAGAATTATGGCAAGAATAGTGGGAGAAAGACAGTGAGGCTGATGCTGAAATCTTCAAGAAATGAAATCTGTTTACAAGTGCAACAGGGTATGGGCAGCCTAGTGTGATTCATCTAGATTGCACTTTTGTGGGTCTAGCTATGGATTGAATCGTGTTATGTGTTACTAGTTCTGTGTGTGGTACTGTGTGACTGTACCAGACTTTACATATCCATTTTACTACCGATGGGAATTTGGG... | pathogenic | 78,009 |
Evaluate this variant at chromosome 3, position 193643440, gene OPA1 (OPA1 mitochondrial dynamin like GTPase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic | GCTTCTTTCTGCTTGGTTTCCTAAAATGTGAATGCCGTGAAAGGAAATTGTGCGCAGGATGTAGGGTTTTGTTTTGTTTTGGAGGTTTATTTCTGCAGTTCATTTTTCTTTGGGATTGTGGCACCTTAAGACGTGACTACTTAATAACTCGGAATTCCAATCTTGTCTACTCAACCCAGTGAAACTGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATTTAGCCTGTTTAGCTAATCTCA... | GCTTCTTTCTGCTTGGTTTCCTAAAATGTGAATGCCGTGAAAGGAAATTGTGCGCAGGATGTAGGGTTTTGTTTTGTTTTGGAGGTTTATTTCTGCAGTTCATTTTTCTTTGGGATTGTGGCACCTTAAGACGTGACTACTTAATAACTCGGAATTCCAATCTTGTCTACTCAACCCAGTGAAACTGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATTTAGCCTGTTTAGCTAATCTCA... | pathogenic | 78,023 |
Clinical significance of chromosome 3, position 193643445, gene OPA1 (OPA1 mitochondrial dynamin like GTPase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Optic_atrophy'] | TTTCTGCTTGGTTTCCTAAAATGTGAATGCCGTGAAAGGAAATTGTGCGCAGGATGTAGGGTTTTGTTTTGTTTTGGAGGTTTATTTCTGCAGTTCATTTTTCTTTGGGATTGTGGCACCTTAAGACGTGACTACTTAATAACTCGGAATTCCAATCTTGTCTACTCAACCCAGTGAAACTGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATTTAGCCTGTTTAGCTAATCTCAGTAGA... | TTTCTGCTTGGTTTCCTAAAATGTGAATGCCGTGAAAGGAAATTGTGCGCAGGATGTAGGGTTTTGTTTTGTTTTGGAGGTTTATTTCTGCAGTTCATTTTTCTTTGGGATTGTGGCACCTTAAGACGTGACTACTTAATAACTCGGAATTCCAATCTTGTCTACTCAACCCAGTGAAACTGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATTTAGCCTGTTTAGCTAATCTCAGTAGA... | pathogenic | 78,024 |
Gene OPA1 (OPA1 mitochondrial dynamin like GTPase) variant at chromosome 3, position 193643538—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic | TTCATTTTTCTTTGGGATTGTGGCACCTTAAGACGTGACTACTTAATAACTCGGAATTCCAATCTTGTCTACTCAACCCAGTGAAACTGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATTTAGCCTGTTTAGCTAATCTCAGTAGAAGGAATTGTATTTTTAAAGTAAAATAACTATAGAGAAGCTAGAAAGGTGTCAATTAGGCATTTAGAAGTTCTTGTGAAACCACTGACTGTTAA... | TTCATTTTTCTTTGGGATTGTGGCACCTTAAGACGTGACTACTTAATAACTCGGAATTCCAATCTTGTCTACTCAACCCAGTGAAACTGCTACACATTTTAAGTTTTTCTCTTGGGCCTTTGCCCTGTGCTACAAATCAGCAAATCCTCTGATGGAAAATAGCTAAACAGCTTTCCAACAGCTGTTTATTGTTTTTAAATTTAGCCTGTTTAGCTAATCTCAGTAGAAGGAATTGTATTTTTAAAGTAAAATAACTATAGAGAAGCTAGAAAGGTGTCAATTAGGCATTTAGAAGTTCTTGTGAAACCACTGACTGTTAA... | pathogenic | 78,027 |
Gene mutation in OPA1 (OPA1 mitochondrial dynamin like GTPase) at chromosome 3, position 193645774—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_dominant_optic_atrophy_classic_form', 'Inborn_genetic_diseases'] | AAATGCATTTTTGCCTTCTCTTCGTATTCATTTTATTAGTAAATTAAATTGAAGTTGAAATTATTTTGATAAGTTTTACATAAGCATCATTGAAATTTTTATCGGCTAGGATTTCTTTTTAGTAAATAACGTAAATGTATTAAAATCTTTCTTGCTATAATGTAGACACAGGGGTATAATTTGTACTGAGTTTTAAAAGTCTACTTTACATCTTAAAATTCCACAGTGTCATTTTTTTATTTTTTTCAGATGGATCTGTGGATGCTGAACGCAGTATTGTTACAGACTTGGTCAGTCAAATGGACCCTCATGGAAGGAGA... | AAATGCATTTTTGCCTTCTCTTCGTATTCATTTTATTAGTAAATTAAATTGAAGTTGAAATTATTTTGATAAGTTTTACATAAGCATCATTGAAATTTTTATCGGCTAGGATTTCTTTTTAGTAAATAACGTAAATGTATTAAAATCTTTCTTGCTATAATGTAGACACAGGGGTATAATTTGTACTGAGTTTTAAAAGTCTACTTTACATCTTAAAATTCCACAGTGTCATTTTTTTATTTTTTTCAGATGGATCTGTGGATGCTGAACGCAGTATTGTTACAGACTTGGTCAGTCAAATGGACCCTCATGGAAGGAGA... | pathogenic | 78,035 |
A genetic alteration at chromosome 3, position 193647123, in gene OPA1—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic | AGAAGGTGGGAGGGGAGGAAGGAGTAAAAGAAGACAATCCAGCTTGGTTAGAATTTAGATATTTGAAGAAAGTATGGAAAAATAATAATAGCTACCATTTATTGAGTGCTTCATGCCTGGCACTGTATCATATTGTCCCATAATCTCACCAACCTTTTTGAAAAAATTAAGTTGTTTACTTAAGGTCGCATAACTACTAGGCAGCAGAGCAGGAATTCAAACTAAGGTCTGTCTGACTTTAAAGAACTACACATCATTCCGGGTTTTCGATACGTGTGTTTTAATAATACATTTTCAATGTAGTAAAATTAAATGTATTT... | AGAAGGTGGGAGGGGAGGAAGGAGTAAAAGAAGACAATCCAGCTTGGTTAGAATTTAGATATTTGAAGAAAGTATGGAAAAATAATAATAGCTACCATTTATTGAGTGCTTCATGCCTGGCACTGTATCATATTGTCCCATAATCTCACCAACCTTTTTGAAAAAATTAAGTTGTTTACTTAAGGTCGCATAACTACTAGGCAGCAGAGCAGGAATTCAAACTAAGGTCTGTCTGACTTTAAAGAACTACACATCATTCCGGGTTTTCGATACGTGTGTTTTAATAATACATTTTCAATGTAGTAAAATTAAATGTATTT... | pathogenic | 78,041 |
Evaluate this variant at chromosome 3, position 193654905, gene OPA1 (OPA1 mitochondrial dynamin like GTPase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Optic_atrophy'] | AGCAGCAACCTCCCTTGAGAAAGTTGCCTTTAGCTTCTCGGGATTTGGTAATCAGGATTTTAAAAAGGGTGTCAGGGATATGGATTCCTGGCCCACAGACTCCAGGGAAAAATAACAGACTATGTCTCTTCTGAAGCAGGATGAGAAAAAAGCCCTGGAGGTCAGAGGCTGGATCCTGGTCTTCAGTTCAACTTTCAGTAATCTTCTTGAGATTGTGTATAAAGTGGTATCTGAAGAGGAGGCCCTGACAGGCTGCTTTTCTTCATCTTGCTCCTTAAATTCTCCCACTCTCTGTCATTAACTCAGTGACTAAATTGTCT... | AGCAGCAACCTCCCTTGAGAAAGTTGCCTTTAGCTTCTCGGGATTTGGTAATCAGGATTTTAAAAAGGGTGTCAGGGATATGGATTCCTGGCCCACAGACTCCAGGGAAAAATAACAGACTATGTCTCTTCTGAAGCAGGATGAGAAAAAAGCCCTGGAGGTCAGAGGCTGGATCCTGGTCTTCAGTTCAACTTTCAGTAATCTTCTTGAGATTGTGTATAAAGTGGTATCTGAAGAGGAGGCCCTGACAGGCTGCTTTTCTTCATCTTGCTCCTTAAATTCTCCCACTCTCTGTCATTAACTCAGTGACTAAATTGTCT... | pathogenic | 78,057 |
Is chromosome 3, position 193657185, gene OPA1 (OPA1 mitochondrial dynamin like GTPase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Abortive_cerebellar_ataxia', 'Autosomal_dominant_optic_atrophy_classic_form', 'OPA1-related_disorder', 'Optic_atrophy_with_or_without_deafness,_ophthalmoplegia,_myopathy,_ataxia,_and_neuropathy'] | TATATCTCATTTATTCTTTATTCCTCATCTCTGTTTTGGGACTAACCTTAATGTTGCTACCAGTTACTACGGTTATAAAAATTTACTAATTGGTATGATGTTGGCCTGAGGGTATTGGTACTTCTTCCAAAGACAATATTTAACAAGCAAATTTTGCTTGAATATGAAATATTTGCTTGAGTATTTGCTTGAATGTGAAATATTTTGAACATTTTCTGTGGATTCTGTGGATTATAGAGATTCCATAAAGAAAATACTTAATAGATGAAGCATTTCATCTGAGCTCAGTTATACTTAAATTATCATTTTCTTAGGATCCT... | TATATCTCATTTATTCTTTATTCCTCATCTCTGTTTTGGGACTAACCTTAATGTTGCTACCAGTTACTACGGTTATAAAAATTTACTAATTGGTATGATGTTGGCCTGAGGGTATTGGTACTTCTTCCAAAGACAATATTTAACAAGCAAATTTTGCTTGAATATGAAATATTTGCTTGAGTATTTGCTTGAATGTGAAATATTTTGAACATTTTCTGTGGATTCTGTGGATTATAGAGATTCCATAAAGAAAATACTTAATAGATGAAGCATTTCATCTGAGCTCAGTTATACTTAAATTATCATTTTCTTAGGATCCT... | pathogenic | 78,065 |
The genetic variant at chromosome 3, position 193658957, affecting gene OPA1 (OPA1 mitochondrial dynamin like GTPase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_dominant_optic_atrophy_classic_form'] | ACCTCTACATCATGGTTTATATTTGCCTTTTTGTTAATGTAGTTTCACATATATTTTCTGATAAGCTGATTTATTTATCACATCTGTTTGGCTTGAGCTCGTGTTATTTTTCATGTTAACCATTGAAGTATGTAGTAATAATATGGCTTTTTTTCTTTCAAATAATTATAGGTTGCTTGGGAGACCCTACAAGAAGAATTTTCCCGCTTTATGACAGAACCGAAAGGGAAAGAGCATGATGACATATTTGATAAACTTAAAGAGGCTGTTAAGGAAGAAAGTATTAAACGACACAAGTGGAATGACTTTGCGGAGGACAG... | ACCTCTACATCATGGTTTATATTTGCCTTTTTGTTAATGTAGTTTCACATATATTTTCTGATAAGCTGATTTATTTATCACATCTGTTTGGCTTGAGCTCGTGTTATTTTTCATGTTAACCATTGAAGTATGTAGTAATAATATGGCTTTTTTTCTTTCAAATAATTATAGGTTGCTTGGGAGACCCTACAAGAAGAATTTTCCCGCTTTATGACAGAACCGAAAGGGAAAGAGCATGATGACATATTTGATAAACTTAAAGAGGCTGTTAAGGAAGAAAGTATTAAACGACACAAGTGGAATGACTTTGCGGAGGACAG... | pathogenic | 78,072 |
Is the chromosome 3, position 193667167 variant in OPA1 (OPA1 mitochondrial dynamin like GTPase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['3-Methylglutaconic_aciduria_type_3', 'Abortive_cerebellar_ataxia', 'Autosomal_dominant_optic_atrophy_classic_form', 'Glaucoma,_normal_tension,_susceptibility_to', 'Mitochondrial_DNA_depletion_syndrome_14_(cardioencephalomyopathic_type)', 'Mitochondrial_disease', 'OPA1-related_disorder', 'Optic_atrophy', '... | TGTAATTTATAAAGAATAATCTAACTCTTATATTTTCAAAGATATTTGCCACTTTGTTCGTGATACGTGCATATTATCCCCAATGCTTATAAGAATATGTGAATATAAATAGTAAAAAAAAGTGTGAATATAAATAGTAAAAAAAATAAATAAATAACAGGAAATAGTCCCTTATTCCCTGACCTGTAAGAATTTTAGTTAACATTTTTATGTATTTCTTTTCAACTTTTTCTGTACATAGGGAGAGAGACAGAGAGGGAAAGAGAAAGTGTGTGTGTATCTGTGTGTGTAACATAACCATCCATTTGCATAATGGAAAT... | TGTAATTTATAAAGAATAATCTAACTCTTATATTTTCAAAGATATTTGCCACTTTGTTCGTGATACGTGCATATTATCCCCAATGCTTATAAGAATATGTGAATATAAATAGTAAAAAAAAGTGTGAATATAAATAGTAAAAAAAATAAATAAATAACAGGAAATAGTCCCTTATTCCCTGACCTGTAAGAATTTTAGTTAACATTTTTATGTATTTCTTTTCAACTTTTTCTGTACATAGGGAGAGAGACAGAGAGGGAAAGAGAAAGTGTGTGTGTATCTGTGTGTGTAACATAACCATCCATTTGCATAATGGAAAT... | pathogenic | 78,089 |
Does the chromosome 3 mutation at position 193692060 within gene OPA1 (OPA1 mitochondrial dynamin like GTPase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic | CTGAAAAAAAAAAAAAATAGGTTAAGCTGTTTCTAAGCAACTAGATGAATTAATTTTTAAACTAAGAATGTGGCCTTATTTTGGGAAAACAAGAATATTTACTTGTTTGTCTGCTGTTTAAAAAATGGAAGTCAGCCTACCAAAAAATTGAGACTCAACTTCTAGGAGATGGGTTAGGATTTTTTTTTTTAAGTTTCTCTAGTTTAATTTTATATATAAGGGGTTAATGCTACCTTCATAATAACTATTATCATATTTTCTCAATACATAGCTTGATTAAAACAACTGGACTCCCCCCCCACCCCACCCCACACACACAC... | CTGAAAAAAAAAAAAAATAGGTTAAGCTGTTTCTAAGCAACTAGATGAATTAATTTTTAAACTAAGAATGTGGCCTTATTTTGGGAAAACAAGAATATTTACTTGTTTGTCTGCTGTTTAAAAAATGGAAGTCAGCCTACCAAAAAATTGAGACTCAACTTCTAGGAGATGGGTTAGGATTTTTTTTTTTAAGTTTCTCTAGTTTAATTTTATATATAAGGGGTTAATGCTACCTTCATAATAACTATTATCATATTTTCTCAATACATAGCTTGATTAAAACAACTGGACTCCCCCCCCACCCCACCCCACACACACAC... | pathogenic | 78,100 |
Evaluate the clinical significance of the mutation at chromosome 3, position 193692064 in gene OPA1 (OPA1 mitochondrial dynamin like GTPase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic | AAAAAAAAAAAAATAGGTTAAGCTGTTTCTAAGCAACTAGATGAATTAATTTTTAAACTAAGAATGTGGCCTTATTTTGGGAAAACAAGAATATTTACTTGTTTGTCTGCTGTTTAAAAAATGGAAGTCAGCCTACCAAAAAATTGAGACTCAACTTCTAGGAGATGGGTTAGGATTTTTTTTTTTAAGTTTCTCTAGTTTAATTTTATATATAAGGGGTTAATGCTACCTTCATAATAACTATTATCATATTTTCTCAATACATAGCTTGATTAAAACAACTGGACTCCCCCCCCACCCCACCCCACACACACACAGAT... | AAAAAAAAAAAAATAGGTTAAGCTGTTTCTAAGCAACTAGATGAATTAATTTTTAAACTAAGAATGTGGCCTTATTTTGGGAAAACAAGAATATTTACTTGTTTGTCTGCTGTTTAAAAAATGGAAGTCAGCCTACCAAAAAATTGAGACTCAACTTCTAGGAGATGGGTTAGGATTTTTTTTTTTAAGTTTCTCTAGTTTAATTTTATATATAAGGGGTTAATGCTACCTTCATAATAACTATTATCATATTTTCTCAATACATAGCTTGATTAAAACAACTGGACTCCCCCCCCACCCCACCCCACACACACACAGAT... | pathogenic | 78,101 |
The genetic variant at chromosome 3, position 193692066, affecting gene OPA1 (OPA1 mitochondrial dynamin like GTPase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_dominant_optic_atrophy_classic_form', 'Optic_atrophy'] | AAAAAAAAAAATAGGTTAAGCTGTTTCTAAGCAACTAGATGAATTAATTTTTAAACTAAGAATGTGGCCTTATTTTGGGAAAACAAGAATATTTACTTGTTTGTCTGCTGTTTAAAAAATGGAAGTCAGCCTACCAAAAAATTGAGACTCAACTTCTAGGAGATGGGTTAGGATTTTTTTTTTTAAGTTTCTCTAGTTTAATTTTATATATAAGGGGTTAATGCTACCTTCATAATAACTATTATCATATTTTCTCAATACATAGCTTGATTAAAACAACTGGACTCCCCCCCCACCCCACCCCACACACACACAGATTT... | AAAAAAAAAAATAGGTTAAGCTGTTTCTAAGCAACTAGATGAATTAATTTTTAAACTAAGAATGTGGCCTTATTTTGGGAAAACAAGAATATTTACTTGTTTGTCTGCTGTTTAAAAAATGGAAGTCAGCCTACCAAAAAATTGAGACTCAACTTCTAGGAGATGGGTTAGGATTTTTTTTTTTAAGTTTCTCTAGTTTAATTTTATATATAAGGGGTTAATGCTACCTTCATAATAACTATTATCATATTTTCTCAATACATAGCTTGATTAAAACAACTGGACTCCCCCCCCACCCCACCCCACACACACACAGATTT... | pathogenic | 78,102 |
Is the variant located on chromosome 3 at position 194431017, gene ATP13A3 (ATPase 13A3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Pulmonary_arterial_hypertension', 'Pulmonary_hypertension,_primary,_autosomal_recessive'] | GCGTCCCCAGGTTTTATTAATAGTTTGGATTTTCCCTATAATGACAACTTAAAAATGACACTCGGACCTGCTTAAAAATTGAAATATAAGTGTCTCTGAAACTAAATATAACATATATTTATAAATATTTGATTTAGTATATTAGTATAAAAGGCATCTCCTTAAAATTCGTTCAATAGGCTGGGCGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTAGGTCAAGAGATCGAGACCACCCTGGCCAACATGGTTTTTTTGGCAAAAAGAAAACACAAACATTTACTCAAAATAT... | GCGTCCCCAGGTTTTATTAATAGTTTGGATTTTCCCTATAATGACAACTTAAAAATGACACTCGGACCTGCTTAAAAATTGAAATATAAGTGTCTCTGAAACTAAATATAACATATATTTATAAATATTTGATTTAGTATATTAGTATAAAAGGCATCTCCTTAAAATTCGTTCAATAGGCTGGGCGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTAGGTCAAGAGATCGAGACCACCCTGGCCAACATGGTTTTTTTGGCAAAAAGAAAACACAAACATTTACTCAAAATAT... | pathogenic | 78,119 |
Variant at chromosome position 196052292, chromosome 3, gene TFRC (transferrin receptor): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AGTAGAGGACCTGGAGAAACCATAAAGGTAACAAAAACCCAAGCTAAATTTCAAATTTTGTAGTAATTTCATTTTACAGTGGTTGAATTTACCCACCCAATGCTTAATGACCACAAAATGTTTCTGCAACTAAAACTAAAAGATAGGGAATTATAGGAGTTGGGATACATGTTAGATACTAACGATCTTCAAGCTTTGAAGATGTCATTGCATGAAGAAAATTATGGGAAACACTGTTCCCGATAATTACTTACACCCTTAGTGTAACATATGGAGATCACTGTCTCCGATACAGACACTGTGGTAGGTAAAAACTACCT... | AGTAGAGGACCTGGAGAAACCATAAAGGTAACAAAAACCCAAGCTAAATTTCAAATTTTGTAGTAATTTCATTTTACAGTGGTTGAATTTACCCACCCAATGCTTAATGACCACAAAATGTTTCTGCAACTAAAACTAAAAGATAGGGAATTATAGGAGTTGGGATACATGTTAGATACTAACGATCTTCAAGCTTTGAAGATGTCATTGCATGAAGAAAATTATGGGAAACACTGTTCCCGATAATTACTTACACCCTTAGTGTAACATATGGAGATCACTGTCTCCGATACAGACACTGTGGTAGGTAAAAACTACCT... | benign | 78,180 |
Does the genetic variant at chromosome 3, position 196055305, impacting gene TFRC (transferrin receptor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TCTGAATTAGACAGCAGAAACAGAAAATGACAGCTAAACCATTAATGCTCCCTTCTTAAAGGAATTCTAGACTCCTAGAGTTTGTCCACTTTGCAGAAGTGTAAGATTTATCGGTTATTTTACACATACTTTAGTTCCTCCTTTCCCAAAAGTTCACTTACTCTCATGACACGATCATTGAGTTTCTTCATGACAAATCTGTCTGTTTTCTCAGCATTCCCGAAATCTGTTGTTAGTCTGGAAGTAGCACGGAAGAAGTCTCCACGAGCAGAATACAGCCACTGTAAACTCAGGCCCATTTCCTGAAACAGACATTATTC... | TCTGAATTAGACAGCAGAAACAGAAAATGACAGCTAAACCATTAATGCTCCCTTCTTAAAGGAATTCTAGACTCCTAGAGTTTGTCCACTTTGCAGAAGTGTAAGATTTATCGGTTATTTTACACATACTTTAGTTCCTCCTTTCCCAAAAGTTCACTTACTCTCATGACACGATCATTGAGTTTCTTCATGACAAATCTGTCTGTTTTCTCAGCATTCCCGAAATCTGTTGTTAGTCTGGAAGTAGCACGGAAGAAGTCTCCACGAGCAGAATACAGCCACTGTAAACTCAGGCCCATTTCCTGAAACAGACATTATTC... | benign | 78,183 |
A mutation at chromosome position 196483787 on chromosome 3 in gene RNF168 (ring finger protein 168): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['RIDDLE_syndrome'] | GACCTCTTGGGCTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTGGCTGGGGTTACAGGCATGTGCCACTGCATTTGGCTAATTTTTTTATTTTGTGTAGAGACAGGGTCTTACTATGTTGCCCAGGCTGGTCTTGAACTCCTCCTGGCCTCAAGCAATCCTACCACCTCAGACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTCCCTGGCTTTTTTTTTTTTTTTTTTTTAGAGACAGGATCTTGCTATGCTGTCCAAGCTGGTCCCAAACTCAAACTCCCTGGGCTTAAGCAATCCTCCTGCCTC... | GACCTCTTGGGCTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTGGCTGGGGTTACAGGCATGTGCCACTGCATTTGGCTAATTTTTTTATTTTGTGTAGAGACAGGGTCTTACTATGTTGCCCAGGCTGGTCTTGAACTCCTCCTGGCCTCAAGCAATCCTACCACCTCAGACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTCCCTGGCTTTTTTTTTTTTTTTTTTTTAGAGACAGGATCTTGCTATGCTGTCCAAGCTGGTCCCAAACTCAAACTCCCTGGGCTTAAGCAATCCTCCTGCCTC... | pathogenic | 78,249 |
Variant chromosome 3, position 196483889, gene RNF168 (ring finger protein 168): benign or pathogenic? Disease(s)? | pathogenic; ['RIDDLE_syndrome'] | ACAGGGTCTTACTATGTTGCCCAGGCTGGTCTTGAACTCCTCCTGGCCTCAAGCAATCCTACCACCTCAGACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTCCCTGGCTTTTTTTTTTTTTTTTTTTTAGAGACAGGATCTTGCTATGCTGTCCAAGCTGGTCCCAAACTCAAACTCCCTGGGCTTAAGCAATCCTCCTGCCTCAGCCTCCCATGTAGCTGGGATTACAGGTACGTGCCACAACACCTGGCTGCCCTTTCTTCTTTTCTGATACGGCACGTAAAGCCTTCTAAATACCACTTTAGC... | ACAGGGTCTTACTATGTTGCCCAGGCTGGTCTTGAACTCCTCCTGGCCTCAAGCAATCCTACCACCTCAGACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTCCCTGGCTTTTTTTTTTTTTTTTTTTTAGAGACAGGATCTTGCTATGCTGTCCAAGCTGGTCCCAAACTCAAACTCCCTGGGCTTAAGCAATCCTCCTGCCTCAGCCTCCCATGTAGCTGGGATTACAGGTACGTGCCACAACACCTGGCTGCCCTTTCTTCTTTTCTGATACGGCACGTAAAGCCTTCTAAATACCACTTTAGC... | pathogenic | 78,250 |
Considering the genetic mutation at chromosome 3, position 196503022, impacting RNF168 (ring finger protein 168): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | GTGCTGGGATTACAGGCGTGAGCCGCCGCGCCCGGCCCCGCAATTTTTTGACACACAGAGTTAAGATACCAGTTCACATGTACTAGCATGGCACGGAAAATAACAAGTGTTGGTGAGGAAGTGAAGAAACTGGAAACTTCGTACTCTGCTAATGGAAATGTAAAATGGTACAGCCACTGTAGAAATCAATGTGGCAGTTCCTCAAAAAGCTAAACACAGAATTACCATAGGATCCAGCAATTCCACTCGTAGATATATAGACAAAAGAACTGAACACAGGTATTCAAACACATACTGGTACATAAATGTTCGTATCGCCA... | GTGCTGGGATTACAGGCGTGAGCCGCCGCGCCCGGCCCCGCAATTTTTTGACACACAGAGTTAAGATACCAGTTCACATGTACTAGCATGGCACGGAAAATAACAAGTGTTGGTGAGGAAGTGAAGAAACTGGAAACTTCGTACTCTGCTAATGGAAATGTAAAATGGTACAGCCACTGTAGAAATCAATGTGGCAGTTCCTCAAAAAGCTAAACACAGAATTACCATAGGATCCAGCAATTCCACTCGTAGATATATAGACAAAAGAACTGAACACAGGTATTCAAACACATACTGGTACATAAATGTTCGTATCGCCA... | pathogenic | 78,257 |
The mutation impacting RPL35A on chromosome 3 at position 197951263: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Diamond-Blackfan_anemia', 'Diamond-Blackfan_anemia_5'] | TCTTACACAAACCTTGGTACAGGGTAGTCATTCATTAAACTATGTGTTAAATAAATGAATGAATCCATAGGATAACCCAAATAAATATGCAATAATTCGGAAATGTGAATCTCTGGCGTCCACTAATCCACCTCTACAAGTATCTACGGAGGACCTACTAGGTGCGGACACGAGGCAGCTAAACGAGTTCTCCTAAAAGGGCGATAAAGCCTCCTGCAGGCAGTCCTCCTCATACCTCGGATCCAAAAAGAAGAATGGAGGTAAGAACTTAAGTCATTTCATTCATTTTTTTTTTCTTTTGTAGAGGTTGGGGGAGGTGG... | TCTTACACAAACCTTGGTACAGGGTAGTCATTCATTAAACTATGTGTTAAATAAATGAATGAATCCATAGGATAACCCAAATAAATATGCAATAATTCGGAAATGTGAATCTCTGGCGTCCACTAATCCACCTCTACAAGTATCTACGGAGGACCTACTAGGTGCGGACACGAGGCAGCTAAACGAGTTCTCCTAAAAGGGCGATAAAGCCTCCTGCAGGCAGTCCTCCTCATACCTCGGATCCAAAAAGAAGAATGGAGGTAAGAACTTAAGTCATTTCATTCATTTTTTTTTTCTTTTGTAGAGGTTGGGGGAGGTGG... | pathogenic | 78,297 |
Clinical significance of chromosome 4, position 500581, gene PIGG (phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Intellectual_disability,_autosomal_recessive_53'] | GGAGTACTATTCAGCTCTAATAAAAGAATGAAACCCTATCATTTGCCACAACACGGATAAACCTGAGGATATCATGTAAGCAAAATAAGACACAGAAAGACAAATACCTCATGATCTCACTCATGTGGCATCTTTAAAACGAAGTTAATCATTAAGATATTTACCAGTTGTCTGAGGTATTGGGTTGAATTTTCTTTTTTTTTTTTTTTTTGAGACGCAGTCTCGCTCTGTTGCCAGGCAGAAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCGAG... | GGAGTACTATTCAGCTCTAATAAAAGAATGAAACCCTATCATTTGCCACAACACGGATAAACCTGAGGATATCATGTAAGCAAAATAAGACACAGAAAGACAAATACCTCATGATCTCACTCATGTGGCATCTTTAAAACGAAGTTAATCATTAAGATATTTACCAGTTGTCTGAGGTATTGGGTTGAATTTTCTTTTTTTTTTTTTTTTTGAGACGCAGTCTCGCTCTGTTGCCAGGCAGAAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCGAG... | pathogenic | 78,321 |
Is the genetic variant on chromosome 4, position 508828, gene PIGG (phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Intellectual_disability,_autosomal_recessive_53'] | GTGCTGTGTCTTTTTCAGAACAGCCTTCTTGTAGGACACATGTAGATGCCCTCAGCTTCATCATCCTGCTGGTTACTTTAACGCTGGGTACTGTCCTGTCTTTAATTAACTGCCCTTTGCCCTTAGTTACCTCATGACAACTTGGGATCTATTTAACTTGCCCATTTGCTCACCTTCAGTTATGCCCATTAAGCCCAGCAGTGATCCCACAGAAAAATATTTTTGTCAGAAGAACCCTTGCTCATTTAAATTATCTGTAGAATATATTCGATCCATAGCCCAGAAACATAAAAACAATATTAGCAAAAGTTTAATCCAAT... | GTGCTGTGTCTTTTTCAGAACAGCCTTCTTGTAGGACACATGTAGATGCCCTCAGCTTCATCATCCTGCTGGTTACTTTAACGCTGGGTACTGTCCTGTCTTTAATTAACTGCCCTTTGCCCTTAGTTACCTCATGACAACTTGGGATCTATTTAACTTGCCCATTTGCTCACCTTCAGTTATGCCCATTAAGCCCAGCAGTGATCCCACAGAAAAATATTTTTGTCAGAAGAACCCTTGCTCATTTAAATTATCTGTAGAATATATTCGATCCATAGCCCAGAAACATAAAAACAATATTAGCAAAAGTTTAATCCAAT... | pathogenic | 78,331 |
For chromosome 4, position 508851, gene PIGG (phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Intellectual_disability,_autosomal_recessive_53'] | CCTTCTTGTAGGACACATGTAGATGCCCTCAGCTTCATCATCCTGCTGGTTACTTTAACGCTGGGTACTGTCCTGTCTTTAATTAACTGCCCTTTGCCCTTAGTTACCTCATGACAACTTGGGATCTATTTAACTTGCCCATTTGCTCACCTTCAGTTATGCCCATTAAGCCCAGCAGTGATCCCACAGAAAAATATTTTTGTCAGAAGAACCCTTGCTCATTTAAATTATCTGTAGAATATATTCGATCCATAGCCCAGAAACATAAAAACAATATTAGCAAAAGTTTAATCCAATGCTAATGTTCATTTATTTATTAT... | CCTTCTTGTAGGACACATGTAGATGCCCTCAGCTTCATCATCCTGCTGGTTACTTTAACGCTGGGTACTGTCCTGTCTTTAATTAACTGCCCTTTGCCCTTAGTTACCTCATGACAACTTGGGATCTATTTAACTTGCCCATTTGCTCACCTTCAGTTATGCCCATTAAGCCCAGCAGTGATCCCACAGAAAAATATTTTTGTCAGAAGAACCCTTGCTCATTTAAATTATCTGTAGAATATATTCGATCCATAGCCCAGAAACATAAAAACAATATTAGCAAAAGTTTAATCCAATGCTAATGTTCATTTATTTATTAT... | pathogenic | 78,333 |
A genetic variant on chromosome 4, position 508969, affects the gene PIGG (phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Intellectual_disability,_autosomal_recessive_53'] | TTGGGATCTATTTAACTTGCCCATTTGCTCACCTTCAGTTATGCCCATTAAGCCCAGCAGTGATCCCACAGAAAAATATTTTTGTCAGAAGAACCCTTGCTCATTTAAATTATCTGTAGAATATATTCGATCCATAGCCCAGAAACATAAAAACAATATTAGCAAAAGTTTAATCCAATGCTAATGTTCATTTATTTATTATAGACGTGGGGTCTTGCTATGTTGCCCAGGTGGGTCCTGAACTCTTGGCCTCAAGCAGTCTTCCCGCTTCAGCCTCCTCAAGTGTTGAGATGAAAGGCATGAGCTGCTGTGTCCAGCCT... | TTGGGATCTATTTAACTTGCCCATTTGCTCACCTTCAGTTATGCCCATTAAGCCCAGCAGTGATCCCACAGAAAAATATTTTTGTCAGAAGAACCCTTGCTCATTTAAATTATCTGTAGAATATATTCGATCCATAGCCCAGAAACATAAAAACAATATTAGCAAAAGTTTAATCCAATGCTAATGTTCATTTATTTATTATAGACGTGGGGTCTTGCTATGTTGCCCAGGTGGGTCCTGAACTCTTGGCCTCAAGCAGTCTTCCCGCTTCAGCCTCCTCAAGTGTTGAGATGAAAGGCATGAGCTGCTGTGTCCAGCCT... | pathogenic | 78,337 |
A mutation at chromosome position 516174 on chromosome 4 in gene PIGG (phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Intellectual_disability,_autosomal_recessive_53'] | CCCCAAGTCCAGCTTCACCAGTTACTGGCCAATTACAGCCAATCTTCTTTCATCCGTGCCCACACTCATTTCCCTTCTCCTTTATTATTTGGAAGCAGACCTCTAAAAGGTACGTGCTCTTTACCCCCATAATCTTGATACCCTTATCACATTTAAAAAATAGTGTTAATTCCTTAATATCACTGAGTAGTGTTCATATCTCTAATATCTGTTTCTCTCTCTTTAGGTGTTTCAGCTTGTTTGAATCAGGCTACAAATAAGACCATACACTGTGATTTGTTTATGTGTCTCTTAAGTCTCTGTAAATCTGTAGGTCCCCA... | CCCCAAGTCCAGCTTCACCAGTTACTGGCCAATTACAGCCAATCTTCTTTCATCCGTGCCCACACTCATTTCCCTTCTCCTTTATTATTTGGAAGCAGACCTCTAAAAGGTACGTGCTCTTTACCCCCATAATCTTGATACCCTTATCACATTTAAAAAATAGTGTTAATTCCTTAATATCACTGAGTAGTGTTCATATCTCTAATATCTGTTTCTCTCTCTTTAGGTGTTTCAGCTTGTTTGAATCAGGCTACAAATAAGACCATACACTGTGATTTGTTTATGTGTCTCTTAAGTCTCTGTAAATCTGTAGGTCCCCA... | pathogenic | 78,341 |
A genetic variant at chromosome 4, position 521223, affecting gene PIGG (phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group))—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Intellectual_disability,_autosomal_recessive_53'] | CAGCTGTAATGCAGTCACAGTTTGTAATTACGCTTGTGTGCGTGCGTGCGTGTCTGTGAGCCCTACTGGATCCAAGCCCCAGCAGGCAAGGATTGCACCTGCTTGCTCGCCATGCTGTGTCTCCCCTGGCACAGCGCCTGGCACAGTGCCTGGCACGTCGTCCACGCTCCATGGATATTTGTTTCGATGCATGCACAGGTGCACCCCCATAGCTTTGTGACTCTCTGATAGGCGGTGGGGTGTGGACACAGGCGTCCCCCCATCCAGGGTGGTAGGTGTAGCAATGAAGGATGCCAGCCCTGGAACCAGACTGCCTGAGT... | CAGCTGTAATGCAGTCACAGTTTGTAATTACGCTTGTGTGCGTGCGTGCGTGTCTGTGAGCCCTACTGGATCCAAGCCCCAGCAGGCAAGGATTGCACCTGCTTGCTCGCCATGCTGTGTCTCCCCTGGCACAGCGCCTGGCACAGTGCCTGGCACGTCGTCCACGCTCCATGGATATTTGTTTCGATGCATGCACAGGTGCACCCCCATAGCTTTGTGACTCTCTGATAGGCGGTGGGGTGTGGACACAGGCGTCCCCCCATCCAGGGTGGTAGGTGTAGCAATGAAGGATGCCAGCCCTGGAACCAGACTGCCTGAGT... | pathogenic | 78,349 |
The mutation impacting PIGG (phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)) on chromosome 4 at position 523545: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Intellectual_disability,_autosomal_recessive_53'] | TGCCATGCATTTTGGGGCAGTTAATTAGGAATCATCTTTTCCTGAGCTTGCTTTTCTGTTTTTACTGTGTGGACAGCTGACACGAGAGCGGGAGCTGGGCTTATTTTTAAGTGGGTTTCTCCAAGCCCAGCAGTCTGTGGATGCTGCTGTTTCTCTGTTCCAGGTTCTCACCCTGCTCCTGCTCAGCGTCCCACAGGCACTGCGCAGAAAGGCTGAGCTGGAAGTCCCACTGTCATCTCCTGGGTTTTCTCTGCTCTTTTATTTGGTGATCCTGGTTCTTTCGGCCGTTCACGTCATTGTGTGCACCTCAGCTGAAAGTT... | TGCCATGCATTTTGGGGCAGTTAATTAGGAATCATCTTTTCCTGAGCTTGCTTTTCTGTTTTTACTGTGTGGACAGCTGACACGAGAGCGGGAGCTGGGCTTATTTTTAAGTGGGTTTCTCCAAGCCCAGCAGTCTGTGGATGCTGCTGTTTCTCTGTTCCAGGTTCTCACCCTGCTCCTGCTCAGCGTCCCACAGGCACTGCGCAGAAAGGCTGAGCTGGAAGTCCCACTGTCATCTCCTGGGTTTTCTCTGCTCTTTTATTTGGTGATCCTGGTTCTTTCGGCCGTTCACGTCATTGTGTGCACCTCAGCTGAAAGTT... | pathogenic | 78,364 |
Gene PIGG (phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)) variant at chromosome position 523580 on chromosome 4: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Intellectual_disability,_autosomal_recessive_53'] | CTTTTCCTGAGCTTGCTTTTCTGTTTTTACTGTGTGGACAGCTGACACGAGAGCGGGAGCTGGGCTTATTTTTAAGTGGGTTTCTCCAAGCCCAGCAGTCTGTGGATGCTGCTGTTTCTCTGTTCCAGGTTCTCACCCTGCTCCTGCTCAGCGTCCCACAGGCACTGCGCAGAAAGGCTGAGCTGGAAGTCCCACTGTCATCTCCTGGGTTTTCTCTGCTCTTTTATTTGGTGATCCTGGTTCTTTCGGCCGTTCACGTCATTGTGTGCACCTCAGCTGAAAGTTCGTGCTACTTCTGTGGCCTCTCGTGGCTGGCGGCA... | CTTTTCCTGAGCTTGCTTTTCTGTTTTTACTGTGTGGACAGCTGACACGAGAGCGGGAGCTGGGCTTATTTTTAAGTGGGTTTCTCCAAGCCCAGCAGTCTGTGGATGCTGCTGTTTCTCTGTTCCAGGTTCTCACCCTGCTCCTGCTCAGCGTCCCACAGGCACTGCGCAGAAAGGCTGAGCTGGAAGTCCCACTGTCATCTCCTGGGTTTTCTCTGCTCTTTTATTTGGTGATCCTGGTTCTTTCGGCCGTTCACGTCATTGTGTGCACCTCAGCTGAAAGTTCGTGCTACTTCTGTGGCCTCTCGTGGCTGGCGGCA... | pathogenic | 78,365 |
Regarding the variant at chromosome 4 and position 527176, affecting gene PIGG (phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Intellectual_disability,_autosomal_recessive_53'] | TTTCTCCTCCCCATCCTCCCTTTTCTCTCTCCTCATCCTGAAGGGACAGAGCCGTGTGGGGGAATTCAGCCACCTCCTGAGCCTTTCATTGGCGACTGGAAAACCACCTAGAAAGTATAGCAAATCATTTCAAGCAAGGCTCGAAATAAGTAGAAGAAACCAGGACAGAAAAATAACTAAGATTTGCCGAGACTTAAATTTTAATTGTCTGGCAGTGAAGACTTAGGAAACTAAAGCAAAAGAAGCAGCACAATGAGAGCATCTGCGGCGAGAGTAACAGCAAGGGTTGCGGTCCCGTCACTGCAGAGAACTCCTGTAAG... | TTTCTCCTCCCCATCCTCCCTTTTCTCTCTCCTCATCCTGAAGGGACAGAGCCGTGTGGGGGAATTCAGCCACCTCCTGAGCCTTTCATTGGCGACTGGAAAACCACCTAGAAAGTATAGCAAATCATTTCAAGCAAGGCTCGAAATAAGTAGAAGAAACCAGGACAGAAAAATAACTAAGATTTGCCGAGACTTAAATTTTAATTGTCTGGCAGTGAAGACTTAGGAAACTAAAGCAAAAGAAGCAGCACAATGAGAGCATCTGCGGCGAGAGTAACAGCAAGGGTTGCGGTCCCGTCACTGCAGAGAACTCCTGTAAG... | pathogenic | 78,383 |
Determine whether the variant at chromosome 4, position 527212, in gene PIGG (phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Intellectual_disability,_autosomal_recessive_53'] | CCTGAAGGGACAGAGCCGTGTGGGGGAATTCAGCCACCTCCTGAGCCTTTCATTGGCGACTGGAAAACCACCTAGAAAGTATAGCAAATCATTTCAAGCAAGGCTCGAAATAAGTAGAAGAAACCAGGACAGAAAAATAACTAAGATTTGCCGAGACTTAAATTTTAATTGTCTGGCAGTGAAGACTTAGGAAACTAAAGCAAAAGAAGCAGCACAATGAGAGCATCTGCGGCGAGAGTAACAGCAAGGGTTGCGGTCCCGTCACTGCAGAGAACTCCTGTAAGAAATGGCAGCAGAAGGAAAAGGGAAATGCCTAGTCC... | CCTGAAGGGACAGAGCCGTGTGGGGGAATTCAGCCACCTCCTGAGCCTTTCATTGGCGACTGGAAAACCACCTAGAAAGTATAGCAAATCATTTCAAGCAAGGCTCGAAATAAGTAGAAGAAACCAGGACAGAAAAATAACTAAGATTTGCCGAGACTTAAATTTTAATTGTCTGGCAGTGAAGACTTAGGAAACTAAAGCAAAAGAAGCAGCACAATGAGAGCATCTGCGGCGAGAGTAACAGCAAGGGTTGCGGTCCCGTCACTGCAGAGAACTCCTGTAAGAAATGGCAGCAGAAGGAAAAGGGAAATGCCTAGTCC... | pathogenic | 78,385 |
Benign or pathogenic: chromosome 4, position 533869, gene PIGG (phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)) variant? Disease(s) if pathogenic? | pathogenic; ['Emm-null_phenotype', 'Intellectual_disability,_autosomal_recessive_53'] | CGCAAGGCACAAGGGTGTCCCCAGCAGAACTGCAGGCCTGGATGCTGGTATCCAGCACGTTCAAGCCAGGTGGCCTCCGGCAGGCTCTTGCCACACCTTCGTTTCCTTATCTGTAAACCAGGGATAGTGGTCTCCCGGCCTCCCCAGGACCCAGCCCTCCCTGGTCTCCCCACCTCCCCGTGGCCCCTGTTTTGAGGCTGAGTCCGCTGCCCCTCAGTGTTAGATCTCCTCTGAGAGGAACCTGTGGCTTTGCTGCCCATCCCTACTTCCTGCCCTCGACTGGGCAGTTCCTTAACAGATCAGGGATCAGGAACATGACT... | CGCAAGGCACAAGGGTGTCCCCAGCAGAACTGCAGGCCTGGATGCTGGTATCCAGCACGTTCAAGCCAGGTGGCCTCCGGCAGGCTCTTGCCACACCTTCGTTTCCTTATCTGTAAACCAGGGATAGTGGTCTCCCGGCCTCCCCAGGACCCAGCCCTCCCTGGTCTCCCCACCTCCCCGTGGCCCCTGTTTTGAGGCTGAGTCCGCTGCCCCTCAGTGTTAGATCTCCTCTGAGAGGAACCTGTGGCTTTGCTGCCCATCCCTACTTCCTGCCCTCGACTGGGCAGTTCCTTAACAGATCAGGGATCAGGAACATGACT... | pathogenic | 78,403 |
Considering the genetic mutation at chromosome 4, position 533870, impacting PIGG (phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Intellectual_disability,_autosomal_recessive_53'] | GCAAGGCACAAGGGTGTCCCCAGCAGAACTGCAGGCCTGGATGCTGGTATCCAGCACGTTCAAGCCAGGTGGCCTCCGGCAGGCTCTTGCCACACCTTCGTTTCCTTATCTGTAAACCAGGGATAGTGGTCTCCCGGCCTCCCCAGGACCCAGCCCTCCCTGGTCTCCCCACCTCCCCGTGGCCCCTGTTTTGAGGCTGAGTCCGCTGCCCCTCAGTGTTAGATCTCCTCTGAGAGGAACCTGTGGCTTTGCTGCCCATCCCTACTTCCTGCCCTCGACTGGGCAGTTCCTTAACAGATCAGGGATCAGGAACATGACTG... | GCAAGGCACAAGGGTGTCCCCAGCAGAACTGCAGGCCTGGATGCTGGTATCCAGCACGTTCAAGCCAGGTGGCCTCCGGCAGGCTCTTGCCACACCTTCGTTTCCTTATCTGTAAACCAGGGATAGTGGTCTCCCGGCCTCCCCAGGACCCAGCCCTCCCTGGTCTCCCCACCTCCCCGTGGCCCCTGTTTTGAGGCTGAGTCCGCTGCCCCTCAGTGTTAGATCTCCTCTGAGAGGAACCTGTGGCTTTGCTGCCCATCCCTACTTCCTGCCCTCGACTGGGCAGTTCCTTAACAGATCAGGGATCAGGAACATGACTG... | pathogenic | 78,404 |
Gene PIGG (phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)) variant at chromosome 4, position 539193—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Intellectual_disability,_autosomal_recessive_53'] | GTTTTACTCATGGTTTCTATTTTGTTTCAGTAGAGTAGGAAAACTATAACCAGGTCTAAATTGTAGACAGAGAAAATATGTTTCCAAAAGGTCAAAAACGTGGCCTTGAGTGGTTGGCGACCCTCTGTTCCAGGGGCTGGCACCCCGGGCTGCCTGCTCCCCTGCAGCGCAAATGGCTCTTTGCTAAAGTGGTGGGAACAGCAAGCCGCCATCTTCTAGGTGGGTAACGCTATAAAGTGTTAAACTGAAGTCAAGGTGGTGCCATGTCTAAGCCACAGCTTCCCCATGCGCTGTCTGGGTAGGATGGGGCCACGGCCCAC... | GTTTTACTCATGGTTTCTATTTTGTTTCAGTAGAGTAGGAAAACTATAACCAGGTCTAAATTGTAGACAGAGAAAATATGTTTCCAAAAGGTCAAAAACGTGGCCTTGAGTGGTTGGCGACCCTCTGTTCCAGGGGCTGGCACCCCGGGCTGCCTGCTCCCCTGCAGCGCAAATGGCTCTTTGCTAAAGTGGTGGGAACAGCAAGCCGCCATCTTCTAGGTGGGTAACGCTATAAAGTGTTAAACTGAAGTCAAGGTGGTGCCATGTCTAAGCCACAGCTTCCCCATGCGCTGTCTGGGTAGGATGGGGCCACGGCCCAC... | pathogenic | 78,408 |
Benign or pathogenic: chromosome 4, position 626051, gene PDE6B (phosphodiesterase 6B) variant? Disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy'] | TCCTCACATCCAGGCGCAATGTGAGCTCATCCCTGGGAGTTGGGAAATGCAACCGGCAGGCTCTGGAGGCTGTTCTGGGACTGAATGCAAAGCAGGCGACCCTCCCCCCGGCCCCAAACCCAAGCACTGCAGCGGCCCCACAACCCCTCCCCCCACCCACATCCCCACTCCCCCGTCCCCAGTGAGAATTCACTATTTTTAGGAAAAAGGGGAAGCCTCTCAGCAGATCCTTGAAAGGAAGTGACTTTGTGACTAAGTGGAGGCAGGAACATCATGGCACAAGGGCACACGTCGCACACCCAGCTGGGCCCACTGTGGAC... | TCCTCACATCCAGGCGCAATGTGAGCTCATCCCTGGGAGTTGGGAAATGCAACCGGCAGGCTCTGGAGGCTGTTCTGGGACTGAATGCAAAGCAGGCGACCCTCCCCCCGGCCCCAAACCCAAGCACTGCAGCGGCCCCACAACCCCTCCCCCCACCCACATCCCCACTCCCCCGTCCCCAGTGAGAATTCACTATTTTTAGGAAAAAGGGGAAGCCTCTCAGCAGATCCTTGAAAGGAAGTGACTTTGTGACTAAGTGGAGGCAGGAACATCATGGCACAAGGGCACACGTCGCACACCCAGCTGGGCCCACTGTGGAC... | pathogenic | 78,425 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 654089, gene PDE6B. What disease(s) is it linked to if pathogenic? | pathogenic; ['Retinitis_pigmentosa'] | GGAGGCCAGTGAGGAGGGTCCACACCCATCGGTGAGGCAGGAGTCAGGGTAGGCTGCAGACCCGGGCGGAGATTGCGAGGCAGGGGTCAGGGTCACTGGAGAAACATGGCTCAGGAAAGGCTTCAGGGAGAAAAAGGTGTTGGACGAGAGAGGCTGGTGCTCAGGGGCTGCAGGGGGGCCGGGCCTCAGCAGGGAGGGAGGGAGGGACTCTGGGAACAGCAGAGCCGGCACTGAGGATGCTGCCAGGGAAGGGCACTGACGTGCATGGACCTGGAGGATGCCACTGGCCAAAAGCTAGGATCTCACTCACATGTGGGATC... | GGAGGCCAGTGAGGAGGGTCCACACCCATCGGTGAGGCAGGAGTCAGGGTAGGCTGCAGACCCGGGCGGAGATTGCGAGGCAGGGGTCAGGGTCACTGGAGAAACATGGCTCAGGAAAGGCTTCAGGGAGAAAAAGGTGTTGGACGAGAGAGGCTGGTGCTCAGGGGCTGCAGGGGGGCCGGGCCTCAGCAGGGAGGGAGGGAGGGACTCTGGGAACAGCAGAGCCGGCACTGAGGATGCTGCCAGGGAAGGGCACTGACGTGCATGGACCTGGAGGATGCCACTGGCCAAAAGCTAGGATCTCACTCACATGTGGGATC... | pathogenic | 78,438 |
Considering the variant on chromosome 4, location 654806, involving gene PDE6B, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CTTGAACATCCTCGGATTTTGTTATCAGAGCGGCGTCCTGGAACCAATTTCCCTGAGGATGCCGAGGGATGACTGTATTGTATACCAAATTGCTAGAAAATAGACTTGTAATGTTCTCACCACAAAAAAAACAAGTTGGTGAGGTGATGGATATGTTGATTAGCTTAATTGAATCTTTCTGCAACAAATACTTACATCAGAACATCACGCCAAACCCCATAAAACATAAACCCCATCAATACACACAATTATTCAACTGAAGATAAACTAAAATCAGTAAAATCAATGTACTGGGAAATAAAGCTACGAACATCTCACTG... | CTTGAACATCCTCGGATTTTGTTATCAGAGCGGCGTCCTGGAACCAATTTCCCTGAGGATGCCGAGGGATGACTGTATTGTATACCAAATTGCTAGAAAATAGACTTGTAATGTTCTCACCACAAAAAAAACAAGTTGGTGAGGTGATGGATATGTTGATTAGCTTAATTGAATCTTTCTGCAACAAATACTTACATCAGAACATCACGCCAAACCCCATAAAACATAAACCCCATCAATACACACAATTATTCAACTGAAGATAAACTAAAATCAGTAAAATCAATGTACTGGGAAATAAAGCTACGAACATCTCACTG... | benign | 78,445 |
Is the genetic variant on chromosome 4, position 657494, gene PDE6B (phosphodiesterase 6B), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TTGAGCACAAGTCAGGGTCAGGGTGGCAGGGCAGGCACCAACGCTGAGTCCTAGAAAGCAGGCTGAAGCCATACGGCCTCCGGAGAGGGAGGGGTTCCCAAGAGGGAGGGGCCCCAGCACGGCAGCCTGGGGAGGAGGAAGAAGGCAGCACAGCCGTCCTCCAACCCACGCCCTGGCCTCCTCGCCTCCTGAACCCCCTGGCACTCAGAGAAGAGAGTAAATGCTGAGGATGGCACATGAGCCAGAGACCCCCAGACCCCTGCACACACGCCCAGTCCATCTGACCCCAGTACACCTACATCCAGCGCAGCCTGGCCCCT... | TTGAGCACAAGTCAGGGTCAGGGTGGCAGGGCAGGCACCAACGCTGAGTCCTAGAAAGCAGGCTGAAGCCATACGGCCTCCGGAGAGGGAGGGGTTCCCAAGAGGGAGGGGCCCCAGCACGGCAGCCTGGGGAGGAGGAAGAAGGCAGCACAGCCGTCCTCCAACCCACGCCCTGGCCTCCTCGCCTCCTGAACCCCCTGGCACTCAGAGAAGAGAGTAAATGCTGAGGATGGCACATGAGCCAGAGACCCCCAGACCCCTGCACACACGCCCAGTCCATCTGACCCCAGTACACCTACATCCAGCGCAGCCTGGCCCCT... | benign | 78,459 |
Gene PDE6B (phosphodiesterase 6B) variant at chromosome position 657501 on chromosome 4: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CAAGTCAGGGTCAGGGTGGCAGGGCAGGCACCAACGCTGAGTCCTAGAAAGCAGGCTGAAGCCATACGGCCTCCGGAGAGGGAGGGGTTCCCAAGAGGGAGGGGCCCCAGCACGGCAGCCTGGGGAGGAGGAAGAAGGCAGCACAGCCGTCCTCCAACCCACGCCCTGGCCTCCTCGCCTCCTGAACCCCCTGGCACTCAGAGAAGAGAGTAAATGCTGAGGATGGCACATGAGCCAGAGACCCCCAGACCCCTGCACACACGCCCAGTCCATCTGACCCCAGTACACCTACATCCAGCGCAGCCTGGCCCCTCTGACCC... | CAAGTCAGGGTCAGGGTGGCAGGGCAGGCACCAACGCTGAGTCCTAGAAAGCAGGCTGAAGCCATACGGCCTCCGGAGAGGGAGGGGTTCCCAAGAGGGAGGGGCCCCAGCACGGCAGCCTGGGGAGGAGGAAGAAGGCAGCACAGCCGTCCTCCAACCCACGCCCTGGCCTCCTCGCCTCCTGAACCCCCTGGCACTCAGAGAAGAGAGTAAATGCTGAGGATGGCACATGAGCCAGAGACCCCCAGACCCCTGCACACACGCCCAGTCCATCTGACCCCAGTACACCTACATCCAGCGCAGCCTGGCCCCTCTGACCC... | benign | 78,460 |
Is the chromosome 4, position 660484 variant in PDE6B (phosphodiesterase 6B) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_40'] | TGGCTGTGCGGTGGGGGCAGGTCACCCAGGGGTCACAGCTGTGTGGGGCAGGTCACCCAGGGGTCACGGCTCCCTCTGTGCAGTGGGCGGCCAGGTTACCCAGGGGTCACAGCTCTCTCTGTGTGGTGGGGACACGGCCCTGGGGCCAGAGCTGAGTACAGCCCTGGCATGCCCCCGAGGTCCCTCTGTCTGCACGGCCCTGGCATCCCTTCCCTGTGCTCAATCTCCCCAGCCAGGGGCCTTGCATGGCCAGAGCCCTCCTGGTCATCATGAGAGAGTCCCATCATTATACCTGAGGACTGCGTAAGGCAGTGCCCGAG... | TGGCTGTGCGGTGGGGGCAGGTCACCCAGGGGTCACAGCTGTGTGGGGCAGGTCACCCAGGGGTCACGGCTCCCTCTGTGCAGTGGGCGGCCAGGTTACCCAGGGGTCACAGCTCTCTCTGTGTGGTGGGGACACGGCCCTGGGGCCAGAGCTGAGTACAGCCCTGGCATGCCCCCGAGGTCCCTCTGTCTGCACGGCCCTGGCATCCCTTCCCTGTGCTCAATCTCCCCAGCCAGGGGCCTTGCATGGCCAGAGCCCTCCTGGTCATCATGAGAGAGTCCCATCATTATACCTGAGGACTGCGTAAGGCAGTGCCCGAG... | pathogenic | 78,468 |
For chromosome 4, position 660538, gene PDE6B (phosphodiesterase 6B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_retinitis_pigmentosa', 'Congenital_Stationary_Night_Blindness,_Dominant', 'PDE6B-related_disorder', 'Retinitis_pigmentosa_40'] | ACCCAGGGGTCACGGCTCCCTCTGTGCAGTGGGCGGCCAGGTTACCCAGGGGTCACAGCTCTCTCTGTGTGGTGGGGACACGGCCCTGGGGCCAGAGCTGAGTACAGCCCTGGCATGCCCCCGAGGTCCCTCTGTCTGCACGGCCCTGGCATCCCTTCCCTGTGCTCAATCTCCCCAGCCAGGGGCCTTGCATGGCCAGAGCCCTCCTGGTCATCATGAGAGAGTCCCATCATTATACCTGAGGACTGCGTAAGGCAGTGCCCGAGAGAGGACAGGTGGGAAAGTCAGCAGGCCATGCACACGGTCATTTGTCTCCAGAT... | ACCCAGGGGTCACGGCTCCCTCTGTGCAGTGGGCGGCCAGGTTACCCAGGGGTCACAGCTCTCTCTGTGTGGTGGGGACACGGCCCTGGGGCCAGAGCTGAGTACAGCCCTGGCATGCCCCCGAGGTCCCTCTGTCTGCACGGCCCTGGCATCCCTTCCCTGTGCTCAATCTCCCCAGCCAGGGGCCTTGCATGGCCAGAGCCCTCCTGGTCATCATGAGAGAGTCCCATCATTATACCTGAGGACTGCGTAAGGCAGTGCCCGAGAGAGGACAGGTGGGAAAGTCAGCAGGCCATGCACACGGTCATTTGTCTCCAGAT... | pathogenic | 78,469 |
Does the variant on chromosome 4 at location 663106 affecting gene PDE6B (phosphodiesterase 6B) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Retinal_dystrophy'] | GTTAGATGGTTGGATAAGTGAATGGATAGGTGGATGGATGGAGAAGTGGGTGGATGAGTGATAGATGAGTAGGTGGGTCAATTAATGAATTAATAGATGGGTCAATGAATGGGTGAATGGATGGGTGGACAGCAGATGGATGGTGAATGGATAGATTTAAAGTTTTATTATTAGGAGTTCCAAGCAATTTGATCATTAGGCACATCATCTGGCAATAACAGGGGATTTGGTGTGGGGTGCTGAGGAGATAGAAGCATCCCATCACCTAAACAGAAAGCACAAAGTGGCCCCCCTGGTTTGGCCACAGCAGCACTCCTCGG... | GTTAGATGGTTGGATAAGTGAATGGATAGGTGGATGGATGGAGAAGTGGGTGGATGAGTGATAGATGAGTAGGTGGGTCAATTAATGAATTAATAGATGGGTCAATGAATGGGTGAATGGATGGGTGGACAGCAGATGGATGGTGAATGGATAGATTTAAAGTTTTATTATTAGGAGTTCCAAGCAATTTGATCATTAGGCACATCATCTGGCAATAACAGGGGATTTGGTGTGGGGTGCTGAGGAGATAGAAGCATCCCATCACCTAAACAGAAAGCACAAAGTGGCCCCCCTGGTTTGGCCACAGCAGCACTCCTCGG... | pathogenic | 78,490 |
Evaluate the clinical significance of the mutation at chromosome 4, position 663126 in gene PDE6B (phosphodiesterase 6B): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_40'] | AATGGATAGGTGGATGGATGGAGAAGTGGGTGGATGAGTGATAGATGAGTAGGTGGGTCAATTAATGAATTAATAGATGGGTCAATGAATGGGTGAATGGATGGGTGGACAGCAGATGGATGGTGAATGGATAGATTTAAAGTTTTATTATTAGGAGTTCCAAGCAATTTGATCATTAGGCACATCATCTGGCAATAACAGGGGATTTGGTGTGGGGTGCTGAGGAGATAGAAGCATCCCATCACCTAAACAGAAAGCACAAAGTGGCCCCCCTGGTTTGGCCACAGCAGCACTCCTCGGAGACCCCCTGGGGAGGCGGG... | AATGGATAGGTGGATGGATGGAGAAGTGGGTGGATGAGTGATAGATGAGTAGGTGGGTCAATTAATGAATTAATAGATGGGTCAATGAATGGGTGAATGGATGGGTGGACAGCAGATGGATGGTGAATGGATAGATTTAAAGTTTTATTATTAGGAGTTCCAAGCAATTTGATCATTAGGCACATCATCTGGCAATAACAGGGGATTTGGTGTGGGGTGCTGAGGAGATAGAAGCATCCCATCACCTAAACAGAAAGCACAAAGTGGCCCCCCTGGTTTGGCCACAGCAGCACTCCTCGGAGACCCCCTGGGGAGGCGGG... | pathogenic | 78,491 |
Does the chromosome 4 mutation at position 663772 within gene PDE6B (phosphodiesterase 6B) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['PDE6B-related_disorder', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_40'] | CCCTGCGGACATCGGTTCTCCCACCCCAGCCTGCAGCCCACACATTCTGCTCATTCAAATGTCCATGCCTAAAACCAACATCTTAAAATATGCTGCATCCCCAGGGGTCCTCCTCCCAGCTTGAGGCCAGGCAGTCGGATGGAGGCTGGGCGGCCCCTGAAGGCTGGGGCTGTTCTCAGCTCCTGCCCTACCTGGCTCCACCCCATAGGTGCCAATGTGGCAGCCCCTACCCAGGAAGGCCAGCAGAGGCCAGTGGGAAACGCAGGGATGGGGAAGATCGGGAAGTCCAGGAGACGGTGTGGGGATGATGGCACGGAGCA... | CCCTGCGGACATCGGTTCTCCCACCCCAGCCTGCAGCCCACACATTCTGCTCATTCAAATGTCCATGCCTAAAACCAACATCTTAAAATATGCTGCATCCCCAGGGGTCCTCCTCCCAGCTTGAGGCCAGGCAGTCGGATGGAGGCTGGGCGGCCCCTGAAGGCTGGGGCTGTTCTCAGCTCCTGCCCTACCTGGCTCCACCCCATAGGTGCCAATGTGGCAGCCCCTACCCAGGAAGGCCAGCAGAGGCCAGTGGGAAACGCAGGGATGGGGAAGATCGGGAAGTCCAGGAGACGGTGTGGGGATGATGGCACGGAGCA... | pathogenic | 78,494 |
Variant in PDE6B (phosphodiesterase 6B), chromosome 4, position 663775—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_40'] | TGCGGACATCGGTTCTCCCACCCCAGCCTGCAGCCCACACATTCTGCTCATTCAAATGTCCATGCCTAAAACCAACATCTTAAAATATGCTGCATCCCCAGGGGTCCTCCTCCCAGCTTGAGGCCAGGCAGTCGGATGGAGGCTGGGCGGCCCCTGAAGGCTGGGGCTGTTCTCAGCTCCTGCCCTACCTGGCTCCACCCCATAGGTGCCAATGTGGCAGCCCCTACCCAGGAAGGCCAGCAGAGGCCAGTGGGAAACGCAGGGATGGGGAAGATCGGGAAGTCCAGGAGACGGTGTGGGGATGATGGCACGGAGCAGGG... | TGCGGACATCGGTTCTCCCACCCCAGCCTGCAGCCCACACATTCTGCTCATTCAAATGTCCATGCCTAAAACCAACATCTTAAAATATGCTGCATCCCCAGGGGTCCTCCTCCCAGCTTGAGGCCAGGCAGTCGGATGGAGGCTGGGCGGCCCCTGAAGGCTGGGGCTGTTCTCAGCTCCTGCCCTACCTGGCTCCACCCCATAGGTGCCAATGTGGCAGCCCCTACCCAGGAAGGCCAGCAGAGGCCAGTGGGAAACGCAGGGATGGGGAAGATCGGGAAGTCCAGGAGACGGTGTGGGGATGATGGCACGGAGCAGGG... | pathogenic | 78,495 |
Located at chromosome 4 position 663776, the variant affecting gene PDE6B (phosphodiesterase 6B)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Retinal_dystrophy'] | GCGGACATCGGTTCTCCCACCCCAGCCTGCAGCCCACACATTCTGCTCATTCAAATGTCCATGCCTAAAACCAACATCTTAAAATATGCTGCATCCCCAGGGGTCCTCCTCCCAGCTTGAGGCCAGGCAGTCGGATGGAGGCTGGGCGGCCCCTGAAGGCTGGGGCTGTTCTCAGCTCCTGCCCTACCTGGCTCCACCCCATAGGTGCCAATGTGGCAGCCCCTACCCAGGAAGGCCAGCAGAGGCCAGTGGGAAACGCAGGGATGGGGAAGATCGGGAAGTCCAGGAGACGGTGTGGGGATGATGGCACGGAGCAGGGC... | GCGGACATCGGTTCTCCCACCCCAGCCTGCAGCCCACACATTCTGCTCATTCAAATGTCCATGCCTAAAACCAACATCTTAAAATATGCTGCATCCCCAGGGGTCCTCCTCCCAGCTTGAGGCCAGGCAGTCGGATGGAGGCTGGGCGGCCCCTGAAGGCTGGGGCTGTTCTCAGCTCCTGCCCTACCTGGCTCCACCCCATAGGTGCCAATGTGGCAGCCCCTACCCAGGAAGGCCAGCAGAGGCCAGTGGGAAACGCAGGGATGGGGAAGATCGGGAAGTCCAGGAGACGGTGTGGGGATGATGGCACGGAGCAGGGC... | pathogenic | 78,496 |
For chromosome 4, position 664207, gene PDE6B (phosphodiesterase 6B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Retinal_dystrophy'] | TCAGCAAAGGGTACCGGAGAATCACCTACCACAACTGGCGCCACGGCTTCAACGTGGCCCAGACGATGTTCACGCTGCTCATGGTACGTGGCTGCCAGAATCACCAGGGTTGTGCAGGCCCTCCTGGTACCAAGGGCAGCACTCAAGCACCCCGAGGGATGAGATGGGGGTCCTCCCAGGGCAGAAGGATGGAGGAGGGCAACGCCCTCTGACACCGTGCACCGCGCACCCCAGCCCTGCGGTGGTCGGAGGTCCAACCTCCAACCCGACGCCTAGGTCATCCCAACCCCTCACCACTCCCCACCCTGCTGGAGCCAGGA... | TCAGCAAAGGGTACCGGAGAATCACCTACCACAACTGGCGCCACGGCTTCAACGTGGCCCAGACGATGTTCACGCTGCTCATGGTACGTGGCTGCCAGAATCACCAGGGTTGTGCAGGCCCTCCTGGTACCAAGGGCAGCACTCAAGCACCCCGAGGGATGAGATGGGGGTCCTCCCAGGGCAGAAGGATGGAGGAGGGCAACGCCCTCTGACACCGTGCACCGCGCACCCCAGCCCTGCGGTGGTCGGAGGTCCAACCTCCAACCCGACGCCTAGGTCATCCCAACCCCTCACCACTCCCCACCCTGCTGGAGCCAGGA... | pathogenic | 78,501 |
Variant in gene PDE6B (phosphodiesterase 6B), located at chromosome 4 position 667835: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Retinal_dystrophy'] | TGGGAGAGTCAGGATAGGCGCCAGGAACAGGAGAGGCAGGGCTGCCCCAGCCCCACGTGGACCAGGTGGGAGCTGTGGTTTCTCACACACCCGCTCTGGTGGGCGGCGAGGGGCTCTCTGGAGCCTGCAGTGGAGAGGGCTTAGGCCAGGTGCAGCCTCGGCAGGAAAGGGGGCATTGGTTGGTCAGCAAAGCCCCACAGGGGAAGGACAGGCAGCAGGTCCATCCCCCGCGCCCGGCCTCTAGAGTCCTGCATGGTTCACCCTCCACCAGGACGCTGTGAGGGGACGGACAGCCCAGGGCACTCGGGGTCTGACACTAG... | TGGGAGAGTCAGGATAGGCGCCAGGAACAGGAGAGGCAGGGCTGCCCCAGCCCCACGTGGACCAGGTGGGAGCTGTGGTTTCTCACACACCCGCTCTGGTGGGCGGCGAGGGGCTCTCTGGAGCCTGCAGTGGAGAGGGCTTAGGCCAGGTGCAGCCTCGGCAGGAAAGGGGGCATTGGTTGGTCAGCAAAGCCCCACAGGGGAAGGACAGGCAGCAGGTCCATCCCCCGCGCCCGGCCTCTAGAGTCCTGCATGGTTCACCCTCCACCAGGACGCTGTGAGGGGACGGACAGCCCAGGGCACTCGGGGTCTGACACTAG... | pathogenic | 78,511 |
Is the genetic variant on chromosome 4, position 987118, gene IDUA, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hurler_syndrome', 'IDUA-related_disorder', 'Mucopolysaccharidosis,_MPS-I-H/S', 'Mucopolysaccharidosis,_MPS-I-S', 'Mucopolysaccharidosis_type_1'] | GTGATTTAAGGCTGGCTTCAGTCCCCACAAAGACAATTCTGTTGCTGGTTTACCTTTGCTTTTAGGGGATAGAACTTTGGGGTCCCAAGAAAAACCCAAAGTCTTTACCAGGCCCCCCGCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGCTCCTCAGAGCTCCCAGTGCCCTGGACGGTTCCG... | GTGATTTAAGGCTGGCTTCAGTCCCCACAAAGACAATTCTGTTGCTGGTTTACCTTTGCTTTTAGGGGATAGAACTTTGGGGTCCCAAGAAAAACCCAAAGTCTTTACCAGGCCCCCCGCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGCTCCTCAGAGCTCCCAGTGCCCTGGACGGTTCCG... | pathogenic | 78,556 |
Does the chromosome 4 mutation at position 987144 within gene IDUA classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis_type_1'] | ACAAAGACAATTCTGTTGCTGGTTTACCTTTGCTTTTAGGGGATAGAACTTTGGGGTCCCAAGAAAAACCCAAAGTCTTTACCAGGCCCCCCGCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGCTCCTCAGAGCTCCCAGTGCCCTGGACGGTTCCGTTCAGCGCTCTCCAGTTCTGATGGTT... | ACAAAGACAATTCTGTTGCTGGTTTACCTTTGCTTTTAGGGGATAGAACTTTGGGGTCCCAAGAAAAACCCAAAGTCTTTACCAGGCCCCCCGCCTGAGCCTCGACTTCTGTCCTGTGGCCACAGTGTGAGGAACGAACGCAGCAGCGTGTCGCCATGTCTTGTGTGGCTGGGATACGCTGCAGGGGTGTGGAGTCGCCGCCCCAAAGCGGGCCCCGCCCCCTCCCGGCTTGTCCCTGCAGAGCCCCGAGGCCTCAGAGGCTCCTCAGAGCTCCCAGTGCCCTGGACGGTTCCGTTCAGCGCTCTCCAGTTCTGATGGTT... | pathogenic | 78,558 |
A genetic variant at chromosome 4, position 987808, affecting gene IDUA—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis,_MPS-I-H/S', 'Mucopolysaccharidosis,_MPS-I-S', 'Mucopolysaccharidosis_type_1'] | TTTAATGCAATTTCAACATAAGAAGACCTAATGTTAAGCAATATTTTAACCCCTCTCCCCAAAATAAAAAGACCCAGAACACTGTAACTCTAATTATCCTTCTCCCAACTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATC... | TTTAATGCAATTTCAACATAAGAAGACCTAATGTTAAGCAATATTTTAACCCCTCTCCCCAAAATAAAAAGACCCAGAACACTGTAACTCTAATTATCCTTCTCCCAACTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATC... | pathogenic | 78,565 |
Gene IDUA variant at chromosome 4, position 987814—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Mucopolysaccharidosis,_MPS-I-H/S'] | GCAATTTCAACATAAGAAGACCTAATGTTAAGCAATATTTTAACCCCTCTCCCCAAAATAAAAAGACCCAGAACACTGTAACTCTAATTATCCTTCTCCCAACTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTA... | GCAATTTCAACATAAGAAGACCTAATGTTAAGCAATATTTTAACCCCTCTCCCCAAAATAAAAAGACCCAGAACACTGTAACTCTAATTATCCTTCTCCCAACTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTA... | pathogenic | 78,567 |
A genetic alteration at chromosome 4, position 987840, in gene IDUA—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis_type_1'] | GTTAAGCAATATTTTAACCCCTCTCCCCAAAATAAAAAGACCCAGAACACTGTAACTCTAATTATCCTTCTCCCAACTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTAAATTTTTTTTTTGTACAGATGGGGTC... | GTTAAGCAATATTTTAACCCCTCTCCCCAAAATAAAAAGACCCAGAACACTGTAACTCTAATTATCCTTCTCCCAACTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTAAATTTTTTTTTTGTACAGATGGGGTC... | pathogenic | 78,569 |
Variant at chromosome 4, position 987858, gene IDUA: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Mucopolysaccharidosis_type_1'] | CCCTCTCCCCAAAATAAAAAGACCCAGAACACTGTAACTCTAATTATCCTTCTCCCAACTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTAAATTTTTTTTTTGTACAGATGGGGTCTTGGTACATCTCCCAGGC... | CCCTCTCCCCAAAATAAAAAGACCCAGAACACTGTAACTCTAATTATCCTTCTCCCAACTTAGAGAGGATTATTGTCCAGTATTTTCGTTTTGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTAAATTTTTTTTTTGTACAGATGGGGTCTTGGTACATCTCCCAGGC... | pathogenic | 78,574 |
Does the chromosome 4 mutation at position 987949 within gene IDUA classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Mucopolysaccharidosis_type_1'] | TGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTAAATTTTTTTTTTGTACAGATGGGGTCTTGGTACATCTCCCAGGCCGATTTCAAACTCCAGGCCTCAAGTGATCCTCCCGTGTTGGCCTGCAATTCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCGCACCAAGC... | TGTTAGTAGACTGTTCTTTTTTTCTTTTCTTTTTTTAGAGATGGGGTCTCATTTTGTCAACCAGGCTGGAATGTAGTGGTGTGATCATGGCCCGTCTCAGCCTTGAACTCCTAAGCTCAAGCAATCTCCCACCTCAATTTCGTGGGTAGCTGGGCCTCACAGGCATATACCATCGCATCTGGCTAAATTTTTTTTTTGTACAGATGGGGTCTTGGTACATCTCCCAGGCCGATTTCAAACTCCAGGCCTCAAGTGATCCTCCCGTGTTGGCCTGCAATTCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCGCACCAAGC... | pathogenic | 78,581 |
Evaluate if the mutation on chromosome 4 at position 1000616 in IDUA (alpha-L-iduronidase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Mucopolysaccharidosis_type_1'] | TCAAGGCTGGCTGCTATTCCATTCACCCCATTCCCTTTCCCTCAGGCCAGAAGCATCACTCACAACTCCAGACCCTTGCACACCAATCTCCTCACTCAGTTCACCCTCAGATGTCCAACTCCACATGGCCAAAACCGAGACCAGTCTCACTCCAAGCTCATCCACCCGCCTAGCTGCCCAAGCTGAAATCCACAGTTGCCCTGTACGACCCCCCGACCCCCCACCTCACCCCCCAGCTCACCTCAAACCTCATCAGTCCCTCTGCTCACAGCCTGCACAGCCACCACCCAGTCTGGGCACCATACCTCTCTGGGCAACCC... | TCAAGGCTGGCTGCTATTCCATTCACCCCATTCCCTTTCCCTCAGGCCAGAAGCATCACTCACAACTCCAGACCCTTGCACACCAATCTCCTCACTCAGTTCACCCTCAGATGTCCAACTCCACATGGCCAAAACCGAGACCAGTCTCACTCCAAGCTCATCCACCCGCCTAGCTGCCCAAGCTGAAATCCACAGTTGCCCTGTACGACCCCCCGACCCCCCACCTCACCCCCCAGCTCACCTCAAACCTCATCAGTCCCTCTGCTCACAGCCTGCACAGCCACCACCCAGTCTGGGCACCATACCTCTCTGGGCAACCC... | pathogenic | 78,635 |
Clinically, how would you classify the variant at chromosome 4, position 1000892, gene IDUA (alpha-L-iduronidase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis,_MPS-I-H/S', 'Mucopolysaccharidosis,_MPS-I-S', 'Mucopolysaccharidosis_type_1'] | ACAGCCACCACCCAGTCTGGGCACCATACCTCTCTGGGCAACCCCCATGGCCCCCAGCCAGTCTTCCAGCTCCCACCCTGACTCCAGTGAGCTGCCAGAGGGATCCTTGAAAAATGCTCTGGAAGCCAAGGTGGGCGGATCACGAGGTCAGGAAATGGAAACCATCCTGGCTAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGGGGAGCTTGCAGTGAGCCGAGATCGCGC... | ACAGCCACCACCCAGTCTGGGCACCATACCTCTCTGGGCAACCCCCATGGCCCCCAGCCAGTCTTCCAGCTCCCACCCTGACTCCAGTGAGCTGCCAGAGGGATCCTTGAAAAATGCTCTGGAAGCCAAGGTGGGCGGATCACGAGGTCAGGAAATGGAAACCATCCTGGCTAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGGGGAGCTTGCAGTGAGCCGAGATCGCGC... | pathogenic | 78,642 |
Considering the genetic mutation at chromosome 4, position 1001511, impacting IDUA (alpha-L-iduronidase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis_type_1'] | TTCCTGCTGGCTGGTCCCGTTGCATGGTAGCCTTAGGTGTCTCCTCAGAGAGGTCCCTCGCTGACCATCAGGCTCCTCACTCCCTGTCGTATCCCCTTCACCAAAGATTCCCATTCCCTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCATCCGCAAGTGCAGTGGCAGGGCGGCCCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGC... | TTCCTGCTGGCTGGTCCCGTTGCATGGTAGCCTTAGGTGTCTCCTCAGAGAGGTCCCTCGCTGACCATCAGGCTCCTCACTCCCTGTCGTATCCCCTTCACCAAAGATTCCCATTCCCTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCATCCGCAAGTGCAGTGGCAGGGCGGCCCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGC... | pathogenic | 78,655 |
Mutation found at chromosome 4 position 1001514, gene IDUA (alpha-L-iduronidase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis_type_1'] | CTGCTGGCTGGTCCCGTTGCATGGTAGCCTTAGGTGTCTCCTCAGAGAGGTCCCTCGCTGACCATCAGGCTCCTCACTCCCTGTCGTATCCCCTTCACCAAAGATTCCCATTCCCTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCATCCGCAAGTGCAGTGGCAGGGCGGCCCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTC... | CTGCTGGCTGGTCCCGTTGCATGGTAGCCTTAGGTGTCTCCTCAGAGAGGTCCCTCGCTGACCATCAGGCTCCTCACTCCCTGTCGTATCCCCTTCACCAAAGATTCCCATTCCCTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCATCCGCAAGTGCAGTGGCAGGGCGGCCCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTC... | pathogenic | 78,657 |
Clinically, how would you classify the variant at chromosome 4, position 1001543, gene IDUA (alpha-L-iduronidase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Mucopolysaccharidosis_type_1'] | TTAGGTGTCTCCTCAGAGAGGTCCCTCGCTGACCATCAGGCTCCTCACTCCCTGTCGTATCCCCTTCACCAAAGATTCCCATTCCCTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCATCCGCAAGTGCAGTGGCAGGGCGGCCCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAG... | TTAGGTGTCTCCTCAGAGAGGTCCCTCGCTGACCATCAGGCTCCTCACTCCCTGTCGTATCCCCTTCACCAAAGATTCCCATTCCCTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCATCCGCAAGTGCAGTGGCAGGGCGGCCCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAG... | pathogenic | 78,661 |
Evaluate this variant at chromosome 4, position 1001700, gene IDUA (alpha-L-iduronidase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis_type_1'] | GGCCCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCC... | GGCCCCCTTCCCCCTTGACGACGCCTGTCCCCTTGGAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCC... | pathogenic | 78,670 |
The mutation impacting IDUA (alpha-L-iduronidase) on chromosome 4 at position 1001871: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis,_MPS-I-H/S', 'Mucopolysaccharidosis,_MPS-I-S', 'Mucopolysaccharidosis_type_1'] | CGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCGGCAAGTGCAGTGGCAGGGCGGCCCCCTTCACCCTTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCATGGGAATTCA... | CGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGTAATGCAGGCCTCGTGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCGGCAAGTGCAGTGGCAGGGCGGCCCCCTTCACCCTTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCATGGGAATTCA... | pathogenic | 78,685 |
Variant in gene IDUA (alpha-L-iduronidase), located at chromosome 4 position 1002063: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis,_MPS-I-H/S', 'Mucopolysaccharidosis,_MPS-I-S', 'Mucopolysaccharidosis_type_1'] | CGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCGGCAAGTGCAGTGGCAGGGCGGCCCCCTTCACCCTTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCATGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGTGGCCCCCTTCTCCCTTTCCTGTGCACTCATGTTGCCTCTTGGGGTGTGGGAGGGGAAATGGGGCACTCCTGGGCCTCCAGGAGGTGCAGAGAACCAGGGTGAGGTGTCCACCAGGTCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCC... | CGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCGGCAAGTGCAGTGGCAGGGCGGCCCCCTTCACCCTTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCATGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGTGGCCCCCTTCTCCCTTTCCTGTGCACTCATGTTGCCTCTTGGGGTGTGGGAGGGGAAATGGGGCACTCCTGGGCCTCCAGGAGGTGCAGAGAACCAGGGTGAGGTGTCCACCAGGTCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCC... | pathogenic | 78,693 |
A genetic variant at chromosome 4, position 1002064, affecting gene IDUA (alpha-L-iduronidase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hurler_syndrome', 'Inborn_genetic_diseases', 'Mucopolysaccharidosis_type_1'] | GACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCGGCAAGTGCAGTGGCAGGGCGGCCCCCTTCACCCTTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCATGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGTGGCCCCCTTCTCCCTTTCCTGTGCACTCATGTTGCCTCTTGGGGTGTGGGAGGGGAAATGGGGCACTCCTGGGCCTCCAGGAGGTGCAGAGAACCAGGGTGAGGTGTCCACCAGGTCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCT... | GACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCGGCAAGTGCAGTGGCAGGGCGGCCCCCTTCACCCTTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCATGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGTGGCCCCCTTCTCCCTTTCCTGTGCACTCATGTTGCCTCTTGGGGTGTGGGAGGGGAAATGGGGCACTCCTGGGCCTCCAGGAGGTGCAGAGAACCAGGGTGAGGTGTCCACCAGGTCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCT... | pathogenic | 78,694 |
Variant at chromosome 4, position 1002074, gene IDUA (alpha-L-iduronidase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hurler_syndrome', 'Mucopolysaccharidosis_type_1'] | CCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCGGCAAGTGCAGTGGCAGGGCGGCCCCCTTCACCCTTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCATGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGTGGCCCCCTTCTCCCTTTCCTGTGCACTCATGTTGCCTCTTGGGGTGTGGGAGGGGAAATGGGGCACTCCTGGGCCTCCAGGAGGTGCAGAGAACCAGGGTGAGGTGTCCACCAGGTCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTG... | CCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCGGCAAGTGCAGTGGCAGGGCGGCCCCCTTCACCCTTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCATGGGAATTCAGCCCATCTGCAAGTGCAGTGGCAGGGTGGCCCCCTTCTCCCTTTCCTGTGCACTCATGTTGCCTCTTGGGGTGTGGGAGGGGAAATGGGGCACTCCTGGGCCTCCAGGAGGTGCAGAGAACCAGGGTGAGGTGTCCACCAGGTCCTGCCTGGCTCCTGACCCCTGGCCCCTGCTGCTCGCGACTGGCCTGCCTCGTGCCACTG... | pathogenic | 78,696 |
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