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 |
|---|---|---|---|---|---|
Evaluate this variant at chromosome 2, position 27312230, gene MPV17 (mitochondrial inner membrane protein MPV17): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Charcot-Marie-Tooth_disease,_axonal,_type_2EE', 'Mitochondrial_DNA_depletion_syndrome_6_(hepatocerebral_type)'] | GCCTCCCGGGTTCAATCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGCTCCACCACACCTGGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGAGCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGACACCCAGCCCTTTCAGCACCCTATGAAGGGCCTGTGTGGCTTGCACTAAAGGACAACTGGCTCAAATTCTAGTGCCATCCCAGAGCTCTGTTTCCTGGCTGAGAGCCTCAAAGGC... | GCCTCCCGGGTTCAATCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGCTCCACCACACCTGGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGAGCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGACACCCAGCCCTTTCAGCACCCTATGAAGGGCCTGTGTGGCTTGCACTAAAGGACAACTGGCTCAAATTCTAGTGCCATCCCAGAGCTCTGTTTCCTGGCTGAGAGCCTCAAAGGC... | pathogenic | 30,112 |
Gene mutation in MPV17 (mitochondrial inner membrane protein MPV17) at chromosome 2, position 27312575—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Mitochondrial_DNA_depletion_syndrome_6_(hepatocerebral_type)'] | TGCATAGCTCTGTTAATCACAGAAAGGGCCCCTATCTGGGCCCCTTCTAAGTTCATTGATCTGTCTTGTACCAGCTGAGATTTCATCTTCCGAAATGTACGGACTATCATATAAAGTAGCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAG... | TGCATAGCTCTGTTAATCACAGAAAGGGCCCCTATCTGGGCCCCTTCTAAGTTCATTGATCTGTCTTGTACCAGCTGAGATTTCATCTTCCGAAATGTACGGACTATCATATAAAGTAGCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAG... | pathogenic | 30,122 |
Is the genetic change at chromosome 2, position 27312584, within gene MPV17 (mitochondrial inner membrane protein MPV17) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Charcot-Marie-Tooth_disease,_axonal,_type_2EE', 'Mitochondrial_DNA_depletion_syndrome_6_(hepatocerebral_type)'] | CTGTTAATCACAGAAAGGGCCCCTATCTGGGCCCCTTCTAAGTTCATTGATCTGTCTTGTACCAGCTGAGATTTCATCTTCCGAAATGTACGGACTATCATATAAAGTAGCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCC... | CTGTTAATCACAGAAAGGGCCCCTATCTGGGCCCCTTCTAAGTTCATTGATCTGTCTTGTACCAGCTGAGATTTCATCTTCCGAAATGTACGGACTATCATATAAAGTAGCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCC... | pathogenic | 30,124 |
Gene mutation in MPV17 (mitochondrial inner membrane protein MPV17) at chromosome 2, position 27312693—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease,_axonal,_type_2EE', 'Mitochondrial_DNA_depletion_syndrome_6_(hepatocerebral_type)'] | GCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCAACATATTGGCCAGGCTGGTCTC... | GCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCAACATATTGGCCAGGCTGGTCTC... | pathogenic | 30,129 |
Is the variant located on chromosome 2 at position 27312694, gene MPV17 (mitochondrial inner membrane protein MPV17), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Charcot-Marie-Tooth_disease,_axonal,_type_2EE', 'Mitochondrial_DNA_depletion_syndrome', 'Mitochondrial_DNA_depletion_syndrome_6_(hepatocerebral_type)'] | CATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCAACATATTGGCCAGGCTGGTCTCG... | CATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCAACATATTGGCCAGGCTGGTCTCG... | pathogenic | 30,130 |
Determine if the mutation at chromosome 2, position 27312994 in gene MPV17 (mitochondrial inner membrane protein MPV17) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic | TATTGGCCAGGCTGGTCTCGAATTCCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATT... | TATTGGCCAGGCTGGTCTCGAATTCCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATT... | pathogenic | 30,135 |
Variant chromosome 2, position 27313000, gene MPV17 (mitochondrial inner membrane protein MPV17): benign or pathogenic? Disease(s)? | pathogenic; ['Charcot-Marie-Tooth_disease,_axonal,_type_2EE', 'Mitochondrial_DNA_depletion_syndrome_6_(hepatocerebral_type)'] | CCAGGCTGGTCTCGAATTCCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATTGCCCAG... | CCAGGCTGGTCTCGAATTCCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATTGCCCAG... | pathogenic | 30,137 |
Is the genetic variant on chromosome 2, position 27313040, gene MPV17 (mitochondrial inner membrane protein MPV17), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Charcot-Marie-Tooth_disease,_axonal,_type_2EE'] | CTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTGGTGTGAAACTCCTGGACTCAAGCAAACCTCTTGCCT... | CTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTGGTGTGAAACTCCTGGACTCAAGCAAACCTCTTGCCT... | pathogenic | 30,140 |
Does the variant impacting MPV17 (mitochondrial inner membrane protein MPV17) on chromosome 2, position 27313044, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Charcot-Marie-Tooth_disease,_axonal,_type_2EE', 'Mitochondrial_DNA_depletion_syndrome_6_(hepatocerebral_type)'] | GCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTGGTGTGAAACTCCTGGACTCAAGCAAACCTCTTGCCTCAGC... | GCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGTCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCGTCTCACTCTGTCACCAGGCTGAAATGCAGTGGCACAATCTCAGTTCACAGCAACCTCCATCTCACAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACATGTTACCATGTGACTGGCTAATTTTTTGTATTTTCTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTGGTGTGAAACTCCTGGACTCAAGCAAACCTCTTGCCTCAGC... | pathogenic | 30,141 |
Variant at chromosome 2, position 27445435, gene IFT172: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Bardet-Biedl_syndrome_20', 'Retinitis_pigmentosa_71', 'Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly', 'Short-rib_thoracic_dysplasia_10_without_polydactyly'] | TTGCTTTTCAGGATACAGCCTTGGCTCTCTGGATCCCTTCTTTGCTCATGTCTGCAGGGGAGGCTGCTCTATCTGGTTACTGCTGTGTGGCTGCACTCACTCTACGTGGAGTTGGGCCCTGCAGGAAGGACGGACTTCAGGGGCAGGTAAGGAAGGCAAACAGGAAGGGTTCATTCCACAGAGACTGGCTGTGTTGAAAAGATGCTGACCGGCCGGGTGCGGAGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCTTGGACAACATGGTGAAACCT... | TTGCTTTTCAGGATACAGCCTTGGCTCTCTGGATCCCTTCTTTGCTCATGTCTGCAGGGGAGGCTGCTCTATCTGGTTACTGCTGTGTGGCTGCACTCACTCTACGTGGAGTTGGGCCCTGCAGGAAGGACGGACTTCAGGGGCAGGTAAGGAAGGCAAACAGGAAGGGTTCATTCCACAGAGACTGGCTGTGTTGAAAAGATGCTGACCGGCCGGGTGCGGAGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCTTGGACAACATGGTGAAACCT... | pathogenic | 30,187 |
Does the variant impacting IFT172 on chromosome 2, position 27445954, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bardet-Biedl_syndrome_20', 'Retinitis_pigmentosa_71', 'Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly'] | TATCATTCAGGGCGAGGGTGTCTAACTCTATCTTCTTCTGCAGCTAGAGGAAATGACAGAGCTTGAATCTCCTAAATGTAAAAGGCAGGAAAATGAGCAGCTACTGGATCAAAATCAAGAAATCCGGGCATCACAGAGAAGTTGGGTTTAGGACAGGTAATGGGCCTTGAAGGTGGTGGCCCGGGTAAGAGCGGGGACAAGGAAGTGCTCTTAGAACTGGGTCTAGGTCTTGCCATGCTGCTTTCCCCTCTGACCTGGGTTGGTTCTCCCCTCTGTCCAGCAGGTGCTGTTCCGAGACTCAGTCCTAAAGGGTTTTTTTT... | TATCATTCAGGGCGAGGGTGTCTAACTCTATCTTCTTCTGCAGCTAGAGGAAATGACAGAGCTTGAATCTCCTAAATGTAAAAGGCAGGAAAATGAGCAGCTACTGGATCAAAATCAAGAAATCCGGGCATCACAGAGAAGTTGGGTTTAGGACAGGTAATGGGCCTTGAAGGTGGTGGCCCGGGTAAGAGCGGGGACAAGGAAGTGCTCTTAGAACTGGGTCTAGGTCTTGCCATGCTGCTTTCCCCTCTGACCTGGGTTGGTTCTCCCCTCTGTCCAGCAGGTGCTGTTCCGAGACTCAGTCCTAAAGGGTTTTTTTT... | pathogenic | 30,192 |
Assess the variant on chromosome 2, position 27459399, impacting IFT172: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Bardet-Biedl_syndrome_20', 'IFT172-related_disorder', 'Retinitis_pigmentosa_71', 'Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly', 'Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly'] | CTTGAGCCCAGGAGTTCAAGACCAGCTTGGGCAACATGGTGAAAACTTGTCTCTACAAAAAAATTAAAAAATTAGCCAGCTGTGGTGGTGCACACCTATAGTCCCAGCTACTCAGGAGGTTGAGGTGGGAGGATCGAGTGCTTAAGCCCAGGAGGTCAAGGCTGCAGTGAGCCATAATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTTTCTGAAAAAAAGGAAAAACGTGGGAAAGAAGGATGGATGTATCCCTCAGTGTGGCCTGAACTCCTTACCCTGTAGGCCTCTTCCCAAAGCCCACTGGCCC... | CTTGAGCCCAGGAGTTCAAGACCAGCTTGGGCAACATGGTGAAAACTTGTCTCTACAAAAAAATTAAAAAATTAGCCAGCTGTGGTGGTGCACACCTATAGTCCCAGCTACTCAGGAGGTTGAGGTGGGAGGATCGAGTGCTTAAGCCCAGGAGGTCAAGGCTGCAGTGAGCCATAATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTTTCTGAAAAAAAGGAAAAACGTGGGAAAGAAGGATGGATGTATCCCTCAGTGTGGCCTGAACTCCTTACCCTGTAGGCCTCTTCCCAAAGCCCACTGGCCC... | pathogenic | 30,251 |
Determine if the mutation at chromosome 2, position 27459766 in gene IFT172 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome_20', 'Retinitis_pigmentosa_71', 'Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly'] | TACTCAGCCTCCTGTAGTCGGCCTTCAGCCTCCAGCTCCTGCAGGAAGGTGAGTCAGGATGGAGAGATGGGGAGATGGAGCCTGGTTGGGGAAGAGATAGGGAGAGCCAGGAGAAGGGCTCACCTTGCCCAGATGTAGGTGTGTATCACTGAGGAGATCTGGATGGTGCTTCCCTACCAGGCGGATCATGTCATCATACAACTTGTGCTTTTTGTACATGGTGATGGCAAGATCAGGCTCTTGTACTGTCACATATAGCCTGGGGAAGGAGATACATCTGGGGCCTCCTAGACCCGACCCCTGCTATCACTGCCTTCTGG... | TACTCAGCCTCCTGTAGTCGGCCTTCAGCCTCCAGCTCCTGCAGGAAGGTGAGTCAGGATGGAGAGATGGGGAGATGGAGCCTGGTTGGGGAAGAGATAGGGAGAGCCAGGAGAAGGGCTCACCTTGCCCAGATGTAGGTGTGTATCACTGAGGAGATCTGGATGGTGCTTCCCTACCAGGCGGATCATGTCATCATACAACTTGTGCTTTTTGTACATGGTGATGGCAAGATCAGGCTCTTGTACTGTCACATATAGCCTGGGGAAGGAGATACATCTGGGGCCTCCTAGACCCGACCCCTGCTATCACTGCCTTCTGG... | pathogenic | 30,254 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 27461078, gene IFT172 (intraflagellar transport 172). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_20', 'Retinitis_pigmentosa_71', 'Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly'] | ATTTAAAAAGAAAGACCAGCCCCAAACAGTGGAATCCAAAAGGGCCTCACATTTCTGCAATGCAAAGCAATTTTATATCATAACTATGTTAGCATTATTCATGAAGAATCACGCTGACTGGAACACAGCTAGAGACTCACTTTATATATCTGGGGTGAAGGGCGATATCTGTGTCACACTGGAATGAAAATGGGAAAGTAAACTGTTCTCTTCCCCTTCAAGGTGATGATGCTGTTTGGAGCCCAGAAAGAAGGATCTGGTGAACTTGCCTCCACTTCCTGCTTTGGGTTCTCTCATTGTTATCCTCTACTGCATTGCCT... | ATTTAAAAAGAAAGACCAGCCCCAAACAGTGGAATCCAAAAGGGCCTCACATTTCTGCAATGCAAAGCAATTTTATATCATAACTATGTTAGCATTATTCATGAAGAATCACGCTGACTGGAACACAGCTAGAGACTCACTTTATATATCTGGGGTGAAGGGCGATATCTGTGTCACACTGGAATGAAAATGGGAAAGTAAACTGTTCTCTTCCCCTTCAAGGTGATGATGCTGTTTGGAGCCCAGAAAGAAGGATCTGGTGAACTTGCCTCCACTTCCTGCTTTGGGTTCTCTCATTGTTATCCTCTACTGCATTGCCT... | pathogenic | 30,259 |
Located at chromosome 2 position 27461793, the variant affecting gene IFT172 (intraflagellar transport 172)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome_20', 'Retinitis_pigmentosa_71', 'Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly', 'Short-rib_thoracic_dysplasia_10_without_polydactyly'] | TGCTTCTGCTGCACCAGGTGGTCCCCCCATGCCTCCTCTAGTTTCACCACCTCCACTGGGAAGGCCAATCGAGCCAGCTCTACCGCTGCCAGGGAGAGAAAAGATGCTCAGCCCAGATTTCCAGGGATGGGCCTCAGGAAAAAGGTAGGACAGGGAGATGAAGCATGGAGAATAGGTAAGAAGGGGAGGAATGGAGGACTGGAGCCAGGCATCCTGAACACACGCACCAAGAGGTGTGGGGAAAAGCAAGAGAGATCAGATTGTTACTGTGTCTGTGTAGAAAGAAGTAGACATAGGAGACTCCATTTTGTTATGTACTA... | TGCTTCTGCTGCACCAGGTGGTCCCCCCATGCCTCCTCTAGTTTCACCACCTCCACTGGGAAGGCCAATCGAGCCAGCTCTACCGCTGCCAGGGAGAGAAAAGATGCTCAGCCCAGATTTCCAGGGATGGGCCTCAGGAAAAAGGTAGGACAGGGAGATGAAGCATGGAGAATAGGTAAGAAGGGGAGGAATGGAGGACTGGAGCCAGGCATCCTGAACACACGCACCAAGAGGTGTGGGGAAAAGCAAGAGAGATCAGATTGTTACTGTGTCTGTGTAGAAAGAAGTAGACATAGGAGACTCCATTTTGTTATGTACTA... | pathogenic | 30,267 |
A genetic alteration at chromosome 2, position 27465475, in gene IFT172 (intraflagellar transport 172)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Bardet-Biedl_syndrome_20', 'Retinitis_pigmentosa_71', 'Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly'] | CAAGCTTGTTCAACCCATGGCCCAAGATGGCTTTGAATGTGGCCCAACACAAATTCATAAACTTTCTTAAAACATTATGAGATTTTTTTGTGATTCTTTTCTCTTTTTTTTTTTTTTTTTTTAAGCTCATCAGCTATCATTAGTGTTAGTATATTTTATGTGTGGCCCAAGATAATTCTTCTTCCGATGTGGCTCAGGGAAGCCAAAGATTGGATACCCCTGTTATAGATAGTGACTGAAGGGGCCACTTAAGTTGGTAGTTGGAGGTCTCTCTGATGAACTGACATTTGAGCTGAGACCTGAATACAAGAAAAAGCCAG... | CAAGCTTGTTCAACCCATGGCCCAAGATGGCTTTGAATGTGGCCCAACACAAATTCATAAACTTTCTTAAAACATTATGAGATTTTTTTGTGATTCTTTTCTCTTTTTTTTTTTTTTTTTTTAAGCTCATCAGCTATCATTAGTGTTAGTATATTTTATGTGTGGCCCAAGATAATTCTTCTTCCGATGTGGCTCAGGGAAGCCAAAGATTGGATACCCCTGTTATAGATAGTGACTGAAGGGGCCACTTAAGTTGGTAGTTGGAGGTCTCTCTGATGAACTGACATTTGAGCTGAGACCTGAATACAAGAAAAAGCCAG... | pathogenic | 30,275 |
For chromosome 2, position 27478083, gene IFT172 (intraflagellar transport 172): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Bardet-Biedl_syndrome_20', 'Retinitis_pigmentosa_71', 'Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly'] | TATAAATCTTATATGTTAATATTTGTGAAATGCAAATAAAATTTCTGTCATTATTAGTTACTAATGATAAACTATACAAAAAATAAGACCTCTTCCAGTTCTAACAGTCTATGATTCTATGAAGTGAAAACAGGAAAATTCATAAATTTAATGGGCCTTCTCTACTACTCACAATTTGCCAACCCTAAGATATATGTCTAGAGAACGTGAATAATTATATGGACCTCTGGGTTTTGTTTTTGTTTTTGTTTTAAGAGATGGGGTCTTACTCCATCATCTAGGCTGGAGTGCAGTGGCACAAACATAGCTCACTGCAGCCT... | TATAAATCTTATATGTTAATATTTGTGAAATGCAAATAAAATTTCTGTCATTATTAGTTACTAATGATAAACTATACAAAAAATAAGACCTCTTCCAGTTCTAACAGTCTATGATTCTATGAAGTGAAAACAGGAAAATTCATAAATTTAATGGGCCTTCTCTACTACTCACAATTTGCCAACCCTAAGATATATGTCTAGAGAACGTGAATAATTATATGGACCTCTGGGTTTTGTTTTTGTTTTTGTTTTAAGAGATGGGGTCTTACTCCATCATCTAGGCTGGAGTGCAGTGGCACAAACATAGCTCACTGCAGCCT... | pathogenic | 30,294 |
Variant chromosome 2, position 27479535, gene IFT172 (intraflagellar transport 172): benign or pathogenic? Disease(s)? | pathogenic; ['Bardet-Biedl_syndrome_20', 'Retinitis_pigmentosa_71', 'Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly'] | TTGCCATCTTTATGACACAGAAGCTAGAAGGAGGCTTATCAAGATGGTGATGGTGAATCAAGCTCTACTCACATTCTCATTTTCAAAGAAATACTTCTCATTGCCACCAGATCCTTGCCAGGCTATCTGTAACGGGAGAAGACTTAAGAAGCAATGTGGATAAATACCCAAGATAATGCCGAAAGAATGAAGAATGACAGGTTGGGAAGTGGAAAGATATATTTATGTAGGCTTTGGCACTACACAAAAGAGGTGCTGTATCAGAATCTGCTCTGGTCCCTGAGAGAAACCAGAGAGATTTTCTGAGAGATGGCATAAAA... | TTGCCATCTTTATGACACAGAAGCTAGAAGGAGGCTTATCAAGATGGTGATGGTGAATCAAGCTCTACTCACATTCTCATTTTCAAAGAAATACTTCTCATTGCCACCAGATCCTTGCCAGGCTATCTGTAACGGGAGAAGACTTAAGAAGCAATGTGGATAAATACCCAAGATAATGCCGAAAGAATGAAGAATGACAGGTTGGGAAGTGGAAAGATATATTTATGTAGGCTTTGGCACTACACAAAAGAGGTGCTGTATCAGAATCTGCTCTGGTCCCTGAGAGAAACCAGAGAGATTTTCTGAGAGATGGCATAAAA... | pathogenic | 30,298 |
The mutation in gene IFT172 (intraflagellar transport 172) at chromosome 2, position 27483599—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome_20', 'Retinitis_pigmentosa_71', 'Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly'] | TTTTTTTTTGAGACAGAGTCTCACTCTGCCGCCCAGGCTGGAGTGCAGTGGCACAATCTCATCGCTGCAACCTCCGCCTCCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCATACCAGGCTAATTTTTCTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCAGCCCGTCTCAGCCTCCCAAAGTGCTGGGATCACAGGCGTGAGCCACCACGCCCAGCATGTATTGGAAATTTTTAATATGCACCTGGTAA... | TTTTTTTTTGAGACAGAGTCTCACTCTGCCGCCCAGGCTGGAGTGCAGTGGCACAATCTCATCGCTGCAACCTCCGCCTCCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCATACCAGGCTAATTTTTCTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCAGCCCGTCTCAGCCTCCCAAAGTGCTGGGATCACAGGCGTGAGCCACCACGCCCAGCATGTATTGGAAATTTTTAATATGCACCTGGTAA... | pathogenic | 30,309 |
Determine whether the variant at chromosome 2, position 27485140, in gene IFT172 (intraflagellar transport 172) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CTCCTGGGCTCAAGTGATCTTTCCACTTCGGCTTCCTGAGTAGCTGGGACTACAGGCCCATGCCACCATGCCCGACTAATTTTTGTATTTATTTTTTGTTTTTTTGGTAGAGACAGGGTTTCACTGTGTTGCCCATGCTGGTCTCAAACTCCTGGACTCAAGCAATCCAAGCCTCCCACAACATTCTTTATTCATACCTGTGACTCTCCAGAGCCTTCATCATCAAAGAAATACCTAACGATGGTACCATCTGCATGACCAGAGAGAATTCCTTTCCCAGAGCAACTAAAAAAGGAGAAAGGAGAGAAATACAGGAAGAG... | CTCCTGGGCTCAAGTGATCTTTCCACTTCGGCTTCCTGAGTAGCTGGGACTACAGGCCCATGCCACCATGCCCGACTAATTTTTGTATTTATTTTTTGTTTTTTTGGTAGAGACAGGGTTTCACTGTGTTGCCCATGCTGGTCTCAAACTCCTGGACTCAAGCAATCCAAGCCTCCCACAACATTCTTTATTCATACCTGTGACTCTCCAGAGCCTTCATCATCAAAGAAATACCTAACGATGGTACCATCTGCATGACCAGAGAGAATTCCTTTCCCAGAGCAACTAAAAAAGGAGAAAGGAGAGAAATACAGGAAGAG... | benign | 30,322 |
Is the genetic variant on chromosome 2, position 27497406, gene GCKR (glucokinase regulator), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CATCCCTTATCCCTTCTCTCTCCCAGCTGAAGCGGACGAGTCGGCGGGGGCGTGGGGGGTGAGACGCGGGTGCTAGGGTCTCCGGCACCTGGGAGATCCCCTTCCTCCCCGCGTGGAAGAGCCAAGTTGGGAAGAGGAATTCCACCTCCAGTGCCCGAGGGGCTAACAGGAGAGGGGAGAGAGTGAGGGAGATAATAATTGCTTTAACAATCCCTTACTTGTAGACTGCGTCAGCTTTTAAGTCTCTTTTCCATTCATAATCTCATTTAATTCCGTTCGCTTTCTCATTCATTCTTTCATTTATTCACCAAATATTTATT... | CATCCCTTATCCCTTCTCTCTCCCAGCTGAAGCGGACGAGTCGGCGGGGGCGTGGGGGGTGAGACGCGGGTGCTAGGGTCTCCGGCACCTGGGAGATCCCCTTCCTCCCCGCGTGGAAGAGCCAAGTTGGGAAGAGGAATTCCACCTCCAGTGCCCGAGGGGCTAACAGGAGAGGGGAGAGAGTGAGGGAGATAATAATTGCTTTAACAATCCCTTACTTGTAGACTGCGTCAGCTTTTAAGTCTCTTTTCCATTCATAATCTCATTTAATTCCGTTCGCTTTCTCATTCATTCTTTCATTTATTCACCAAATATTTATT... | benign | 30,329 |
Is chromosome 2, position 29065060, gene PCARE (photoreceptor cilium actin regulator) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CTGTGTGTCTCCTGCTCACTCAGCTCAGTGCCCAGCTTACCTAAGGCTCACCCCATGGTGACCCAATGGTTGGTCTGCCCAACCATTTAGGGAGAATGCCCAGATCTCTGTCGGGCAAGTTTGCTGAACCTGGTCCATCCTCACGTGCTTACCTTGGCCCCTGCCCTGCCTGGGTGGCTGGACTTCCCTGCGTTGCCTGCAGTCCAGGCAGCTCCTAAGTGTCCACCCAGCAGTGGGTGTGGCTTGGCTCTAGAATCGGCTGGCCTGGGCACTGCCTGAGCACTTCTCTGAGATGAGGGCGGCAACAGGAGCAAATGCGA... | CTGTGTGTCTCCTGCTCACTCAGCTCAGTGCCCAGCTTACCTAAGGCTCACCCCATGGTGACCCAATGGTTGGTCTGCCCAACCATTTAGGGAGAATGCCCAGATCTCTGTCGGGCAAGTTTGCTGAACCTGGTCCATCCTCACGTGCTTACCTTGGCCCCTGCCCTGCCTGGGTGGCTGGACTTCCCTGCGTTGCCTGCAGTCCAGGCAGCTCCTAAGTGTCCACCCAGCAGTGGGTGTGGCTTGGCTCTAGAATCGGCTGGCCTGGGCACTGCCTGAGCACTTCTCTGAGATGAGGGCGGCAACAGGAGCAAATGCGA... | benign | 30,455 |
Considering the variant on chromosome 2, location 29070902, involving gene PCARE (photoreceptor cilium actin regulator), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_54'] | AGTGGAGCTAGGTCCTTGGGGATATGGGAAGCCACACATTTATATTCTATGCCTCCAGGACTAGCCATTCTCAAAGTGTAGTCTGGGGGCCCCTGGTTATTCCTGAGACACTTATAGGGGGCCCACGATGTCAAAACTATTTTCATCATAATACTAAGATGTCACTTCTCTTTCTCACTCATTCTTTTGTGAATGCAGGGTGGAGAGCCCCGCGTCTACATGAGGTGTGAGATCCCAACAGGTTGACAATGGAAGCAGAGCTGAGAATCCGGTCATCTTATATTAAGCCAGATGCTAAAAAGGTTTGAAAAAATGTAAGA... | AGTGGAGCTAGGTCCTTGGGGATATGGGAAGCCACACATTTATATTCTATGCCTCCAGGACTAGCCATTCTCAAAGTGTAGTCTGGGGGCCCCTGGTTATTCCTGAGACACTTATAGGGGGCCCACGATGTCAAAACTATTTTCATCATAATACTAAGATGTCACTTCTCTTTCTCACTCATTCTTTTGTGAATGCAGGGTGGAGAGCCCCGCGTCTACATGAGGTGTGAGATCCCAACAGGTTGACAATGGAAGCAGAGCTGAGAATCCGGTCATCTTATATTAAGCCAGATGCTAAAAAGGTTTGAAAAAATGTAAGA... | pathogenic | 30,461 |
Variant at chromosome position 29070995, chromosome 2, gene PCARE (photoreceptor cilium actin regulator): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TGGTTATTCCTGAGACACTTATAGGGGGCCCACGATGTCAAAACTATTTTCATCATAATACTAAGATGTCACTTCTCTTTCTCACTCATTCTTTTGTGAATGCAGGGTGGAGAGCCCCGCGTCTACATGAGGTGTGAGATCCCAACAGGTTGACAATGGAAGCAGAGCTGAGAATCCGGTCATCTTATATTAAGCCAGATGCTAAAAAGGTTTGAAAAAATGTAAGACAGTGCTACTCTTCTCCCTAAATTTTTTGTTGTTGTAGAAGATACTCTTTTCATAAAGACACATGCATGCAAATGTTCATTGCAGCACTATTC... | TGGTTATTCCTGAGACACTTATAGGGGGCCCACGATGTCAAAACTATTTTCATCATAATACTAAGATGTCACTTCTCTTTCTCACTCATTCTTTTGTGAATGCAGGGTGGAGAGCCCCGCGTCTACATGAGGTGTGAGATCCCAACAGGTTGACAATGGAAGCAGAGCTGAGAATCCGGTCATCTTATATTAAGCCAGATGCTAAAAAGGTTTGAAAAAATGTAAGACAGTGCTACTCTTCTCCCTAAATTTTTTGTTGTTGTAGAAGATACTCTTTTCATAAAGACACATGCATGCAAATGTTCATTGCAGCACTATTC... | benign | 30,463 |
Considering the genetic mutation at chromosome 2, position 29071203, impacting PCARE (photoreceptor cilium actin regulator): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGTTTGAAAAAATGTAAGACAGTGCTACTCTTCTCCCTAAATTTTTTGTTGTTGTAGAAGATACTCTTTTCATAAAGACACATGCATGCAAATGTTCATTGCAGCACTATTCACAATAGCAAAGATATGGAGTCAACCCAAATGCCCATCAATGACAGATTGGATAAAGAAAATGTAATGCATATATATACCATGGAGTGCTATGCAGCCATAATAAAGAACAAGATCATGTCTTTTGCAGGCACATGGATGGAGCTAGAGGCCATTAATTATCCTTAGCAAACTAACCAAATACTGCATGTTCTTACTTATAAGTGGGA... | GGTTTGAAAAAATGTAAGACAGTGCTACTCTTCTCCCTAAATTTTTTGTTGTTGTAGAAGATACTCTTTTCATAAAGACACATGCATGCAAATGTTCATTGCAGCACTATTCACAATAGCAAAGATATGGAGTCAACCCAAATGCCCATCAATGACAGATTGGATAAAGAAAATGTAATGCATATATATACCATGGAGTGCTATGCAGCCATAATAAAGAACAAGATCATGTCTTTTGCAGGCACATGGATGGAGCTAGAGGCCATTAATTATCCTTAGCAAACTAACCAAATACTGCATGTTCTTACTTATAAGTGGGA... | benign | 30,464 |
Evaluate if the mutation on chromosome 2 at position 29071294 in PCARE (photoreceptor cilium actin regulator) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_retinitis_pigmentosa', 'PCARE-related_disorder', 'Retinitis_pigmentosa_54'] | ATGTTCATTGCAGCACTATTCACAATAGCAAAGATATGGAGTCAACCCAAATGCCCATCAATGACAGATTGGATAAAGAAAATGTAATGCATATATATACCATGGAGTGCTATGCAGCCATAATAAAGAACAAGATCATGTCTTTTGCAGGCACATGGATGGAGCTAGAGGCCATTAATTATCCTTAGCAAACTAACCAAATACTGCATGTTCTTACTTATAAGTGGGAGCTAAATGATGAGAACTCATGGGCACAAAGAGGGGAACAGTAGACACTGGGGCCTCCTTGAGGGTGGAAGGTGGGAGGAGGGAGAGAGCAG... | ATGTTCATTGCAGCACTATTCACAATAGCAAAGATATGGAGTCAACCCAAATGCCCATCAATGACAGATTGGATAAAGAAAATGTAATGCATATATATACCATGGAGTGCTATGCAGCCATAATAAAGAACAAGATCATGTCTTTTGCAGGCACATGGATGGAGCTAGAGGCCATTAATTATCCTTAGCAAACTAACCAAATACTGCATGTTCTTACTTATAAGTGGGAGCTAAATGATGAGAACTCATGGGCACAAAGAGGGGAACAGTAGACACTGGGGCCTCCTTGAGGGTGGAAGGTGGGAGGAGGGAGAGAGCAG... | pathogenic | 30,466 |
Assess the variant on chromosome 2, position 29071295, impacting PCARE (photoreceptor cilium actin regulator): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic | TGTTCATTGCAGCACTATTCACAATAGCAAAGATATGGAGTCAACCCAAATGCCCATCAATGACAGATTGGATAAAGAAAATGTAATGCATATATATACCATGGAGTGCTATGCAGCCATAATAAAGAACAAGATCATGTCTTTTGCAGGCACATGGATGGAGCTAGAGGCCATTAATTATCCTTAGCAAACTAACCAAATACTGCATGTTCTTACTTATAAGTGGGAGCTAAATGATGAGAACTCATGGGCACAAAGAGGGGAACAGTAGACACTGGGGCCTCCTTGAGGGTGGAAGGTGGGAGGAGGGAGAGAGCAGA... | TGTTCATTGCAGCACTATTCACAATAGCAAAGATATGGAGTCAACCCAAATGCCCATCAATGACAGATTGGATAAAGAAAATGTAATGCATATATATACCATGGAGTGCTATGCAGCCATAATAAAGAACAAGATCATGTCTTTTGCAGGCACATGGATGGAGCTAGAGGCCATTAATTATCCTTAGCAAACTAACCAAATACTGCATGTTCTTACTTATAAGTGGGAGCTAAATGATGAGAACTCATGGGCACAAAGAGGGGAACAGTAGACACTGGGGCCTCCTTGAGGGTGGAAGGTGGGAGGAGGGAGAGAGCAGA... | pathogenic | 30,467 |
A genetic variant at chromosome 2, position 29071295, affecting gene PCARE (photoreceptor cilium actin regulator)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic | TGTTCATTGCAGCACTATTCACAATAGCAAAGATATGGAGTCAACCCAAATGCCCATCAATGACAGATTGGATAAAGAAAATGTAATGCATATATATACCATGGAGTGCTATGCAGCCATAATAAAGAACAAGATCATGTCTTTTGCAGGCACATGGATGGAGCTAGAGGCCATTAATTATCCTTAGCAAACTAACCAAATACTGCATGTTCTTACTTATAAGTGGGAGCTAAATGATGAGAACTCATGGGCACAAAGAGGGGAACAGTAGACACTGGGGCCTCCTTGAGGGTGGAAGGTGGGAGGAGGGAGAGAGCAGA... | TGTTCATTGCAGCACTATTCACAATAGCAAAGATATGGAGTCAACCCAAATGCCCATCAATGACAGATTGGATAAAGAAAATGTAATGCATATATATACCATGGAGTGCTATGCAGCCATAATAAAGAACAAGATCATGTCTTTTGCAGGCACATGGATGGAGCTAGAGGCCATTAATTATCCTTAGCAAACTAACCAAATACTGCATGTTCTTACTTATAAGTGGGAGCTAAATGATGAGAACTCATGGGCACAAAGAGGGGAACAGTAGACACTGGGGCCTCCTTGAGGGTGGAAGGTGGGAGGAGGGAGAGAGCAGA... | pathogenic | 30,468 |
Is the chromosome 2, position 29071466 variant in PCARE (photoreceptor cilium actin regulator) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Retinal_dystrophy'] | CATTAATTATCCTTAGCAAACTAACCAAATACTGCATGTTCTTACTTATAAGTGGGAGCTAAATGATGAGAACTCATGGGCACAAAGAGGGGAACAGTAGACACTGGGGCCTCCTTGAGGGTGGAAGGTGGGAGGAGGGAGAGAGCAGAAAAAATAACTATTGTGTATTATTAGTACCTGGGTGATGAAACTATCTGTACAATAAACCCCTTGTGACACAAGTTTACCTACATCACAAACCTGCACATGTACCCATGAACCTAAAATAAAAGCTTTAAAAAAAGTGGACACAAGAAAATACACACTTTTTATAAGAGTAT... | CATTAATTATCCTTAGCAAACTAACCAAATACTGCATGTTCTTACTTATAAGTGGGAGCTAAATGATGAGAACTCATGGGCACAAAGAGGGGAACAGTAGACACTGGGGCCTCCTTGAGGGTGGAAGGTGGGAGGAGGGAGAGAGCAGAAAAAATAACTATTGTGTATTATTAGTACCTGGGTGATGAAACTATCTGTACAATAAACCCCTTGTGACACAAGTTTACCTACATCACAAACCTGCACATGTACCCATGAACCTAAAATAAAAGCTTTAAAAAAAGTGGACACAAGAAAATACACACTTTTTATAAGAGTAT... | pathogenic | 30,473 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 29071493, gene PCARE (photoreceptor cilium actin regulator): what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_retinitis_pigmentosa', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_54'] | AATACTGCATGTTCTTACTTATAAGTGGGAGCTAAATGATGAGAACTCATGGGCACAAAGAGGGGAACAGTAGACACTGGGGCCTCCTTGAGGGTGGAAGGTGGGAGGAGGGAGAGAGCAGAAAAAATAACTATTGTGTATTATTAGTACCTGGGTGATGAAACTATCTGTACAATAAACCCCTTGTGACACAAGTTTACCTACATCACAAACCTGCACATGTACCCATGAACCTAAAATAAAAGCTTTAAAAAAAGTGGACACAAGAAAATACACACTTTTTATAAGAGTATATTATTTGTGTTAACGTATTTTTTAAA... | AATACTGCATGTTCTTACTTATAAGTGGGAGCTAAATGATGAGAACTCATGGGCACAAAGAGGGGAACAGTAGACACTGGGGCCTCCTTGAGGGTGGAAGGTGGGAGGAGGGAGAGAGCAGAAAAAATAACTATTGTGTATTATTAGTACCTGGGTGATGAAACTATCTGTACAATAAACCCCTTGTGACACAAGTTTACCTACATCACAAACCTGCACATGTACCCATGAACCTAAAATAAAAGCTTTAAAAAAAGTGGACACAAGAAAATACACACTTTTTATAAGAGTATATTATTTGTGTTAACGTATTTTTTAAA... | pathogenic | 30,474 |
Located at chromosome 2 position 29071596, the variant affecting gene PCARE (photoreceptor cilium actin regulator)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Retinal_dystrophy'] | GGAGGAGGGAGAGAGCAGAAAAAATAACTATTGTGTATTATTAGTACCTGGGTGATGAAACTATCTGTACAATAAACCCCTTGTGACACAAGTTTACCTACATCACAAACCTGCACATGTACCCATGAACCTAAAATAAAAGCTTTAAAAAAAGTGGACACAAGAAAATACACACTTTTTATAAGAGTATATTATTTGTGTTAACGTATTTTTTAAAAAAATAATAAATATTTTACATATTTCTCAGTTTTAACTTCCAATACAGTAAACATTGATAGATATAGCCTCCACACGCAAAGGCTCTTTTGGGCTCTTAATAA... | GGAGGAGGGAGAGAGCAGAAAAAATAACTATTGTGTATTATTAGTACCTGGGTGATGAAACTATCTGTACAATAAACCCCTTGTGACACAAGTTTACCTACATCACAAACCTGCACATGTACCCATGAACCTAAAATAAAAGCTTTAAAAAAAGTGGACACAAGAAAATACACACTTTTTATAAGAGTATATTATTTGTGTTAACGTATTTTTTAAAAAAATAATAAATATTTTACATATTTCTCAGTTTTAACTTCCAATACAGTAAACATTGATAGATATAGCCTCCACACGCAAAGGCTCTTTTGGGCTCTTAATAA... | pathogenic | 30,476 |
Determine if the mutation at chromosome 2, position 29071881 in gene PCARE (photoreceptor cilium actin regulator) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_54'] | CTCCACACGCAAAGGCTCTTTTGGGCTCTTAATAACTTTAAAGGGTTTAAAGCCATCCTGGGACCAAATAGCTTGAGAACCTCCCAACTAGATGCTGGTCTCCTGCGGGGAACCAGAAACATGGGGAGCCAGGCTGCTGGTTTGAGACACGGCACCAGTGAGCCAGCCACAGGGGCAAGCCTTTTCATCTCAGTTTCCCCAGCTGTAAAACATGGGGTGTGTGGGGTTGAACTAACTTGAGTGTTTTGAACTTTACTATTTTATTTTTTTGAGATATATATATATATTTTTAAGTTCTGGGATACATGTGCAGAACGTGC... | CTCCACACGCAAAGGCTCTTTTGGGCTCTTAATAACTTTAAAGGGTTTAAAGCCATCCTGGGACCAAATAGCTTGAGAACCTCCCAACTAGATGCTGGTCTCCTGCGGGGAACCAGAAACATGGGGAGCCAGGCTGCTGGTTTGAGACACGGCACCAGTGAGCCAGCCACAGGGGCAAGCCTTTTCATCTCAGTTTCCCCAGCTGTAAAACATGGGGTGTGTGGGGTTGAACTAACTTGAGTGTTTTGAACTTTACTATTTTATTTTTTTGAGATATATATATATATTTTTAAGTTCTGGGATACATGTGCAGAACGTGC... | pathogenic | 30,479 |
Determine if the mutation at chromosome 2, position 29071963 in gene PCARE (photoreceptor cilium actin regulator) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic | CCCAACTAGATGCTGGTCTCCTGCGGGGAACCAGAAACATGGGGAGCCAGGCTGCTGGTTTGAGACACGGCACCAGTGAGCCAGCCACAGGGGCAAGCCTTTTCATCTCAGTTTCCCCAGCTGTAAAACATGGGGTGTGTGGGGTTGAACTAACTTGAGTGTTTTGAACTTTACTATTTTATTTTTTTGAGATATATATATATATTTTTAAGTTCTGGGATACATGTGCAGAACGTGCAGGTTTGTTACATAGATATATTTGTTTCATGGTGGTTTCCTGCACCTATCAACCCATCATCCAGGTTTTAAGCCCCGCATGC... | CCCAACTAGATGCTGGTCTCCTGCGGGGAACCAGAAACATGGGGAGCCAGGCTGCTGGTTTGAGACACGGCACCAGTGAGCCAGCCACAGGGGCAAGCCTTTTCATCTCAGTTTCCCCAGCTGTAAAACATGGGGTGTGTGGGGTTGAACTAACTTGAGTGTTTTGAACTTTACTATTTTATTTTTTTGAGATATATATATATATTTTTAAGTTCTGGGATACATGTGCAGAACGTGCAGGTTTGTTACATAGATATATTTGTTTCATGGTGGTTTCCTGCACCTATCAACCCATCATCCAGGTTTTAAGCCCCGCATGC... | pathogenic | 30,482 |
Gene PCARE (photoreceptor cilium actin regulator) variant at chromosome position 29072033 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | CACCAGTGAGCCAGCCACAGGGGCAAGCCTTTTCATCTCAGTTTCCCCAGCTGTAAAACATGGGGTGTGTGGGGTTGAACTAACTTGAGTGTTTTGAACTTTACTATTTTATTTTTTTGAGATATATATATATATTTTTAAGTTCTGGGATACATGTGCAGAACGTGCAGGTTTGTTACATAGATATATTTGTTTCATGGTGGTTTCCTGCACCTATCAACCCATCATCCAGGTTTTAAGCCCCGCATGCATTAGGTATTTGTCCTAAGGCTCTCCCTCCCCTTGTTCCCTACCCTCCAACAGGCCCCGGTGTGTGCCCT... | CACCAGTGAGCCAGCCACAGGGGCAAGCCTTTTCATCTCAGTTTCCCCAGCTGTAAAACATGGGGTGTGTGGGGTTGAACTAACTTGAGTGTTTTGAACTTTACTATTTTATTTTTTTGAGATATATATATATATTTTTAAGTTCTGGGATACATGTGCAGAACGTGCAGGTTTGTTACATAGATATATTTGTTTCATGGTGGTTTCCTGCACCTATCAACCCATCATCCAGGTTTTAAGCCCCGCATGCATTAGGTATTTGTCCTAAGGCTCTCCCTCCCCTTGTTCCCTACCCTCCAACAGGCCCCGGTGTGTGCCCT... | pathogenic | 30,483 |
Located at chromosome 2 position 29072277, the variant affecting gene PCARE (photoreceptor cilium actin regulator)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_54'] | GCATGCATTAGGTATTTGTCCTAAGGCTCTCCCTCCCCTTGTTCCCTACCCTCCAACAGGCCCCGGTGTGTGCCCTTCCTGTGTCCATGTGTTCTCATTTGAACTTGATTTTTTTTAATACAGCAGGGCCTCTTTTCAATTAAAATATTTCCTAGGCAGCTGGAATGTGTAACAGATAAGAGCACAGTAACTCAAGGTTGGAGAGTGGGGGAGCTGGAACTGCCCCCTACACCTTTTTCCCAACTGCCTCTTCTCTTGGAGCACAGTTTGAAAACTACTGAGACCCAGAAGATCTTTTGGCCCATTCGCTCTGTTCCTCT... | GCATGCATTAGGTATTTGTCCTAAGGCTCTCCCTCCCCTTGTTCCCTACCCTCCAACAGGCCCCGGTGTGTGCCCTTCCTGTGTCCATGTGTTCTCATTTGAACTTGATTTTTTTTAATACAGCAGGGCCTCTTTTCAATTAAAATATTTCCTAGGCAGCTGGAATGTGTAACAGATAAGAGCACAGTAACTCAAGGTTGGAGAGTGGGGGAGCTGGAACTGCCCCCTACACCTTTTTCCCAACTGCCTCTTCTCTTGGAGCACAGTTTGAAAACTACTGAGACCCAGAAGATCTTTTGGCCCATTCGCTCTGTTCCTCT... | pathogenic | 30,486 |
Regarding the variant found on chromosome 2 at position 29072374 in gene PCARE (photoreceptor cilium actin regulator): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Retinal_dystrophy'] | TTTGAACTTGATTTTTTTTAATACAGCAGGGCCTCTTTTCAATTAAAATATTTCCTAGGCAGCTGGAATGTGTAACAGATAAGAGCACAGTAACTCAAGGTTGGAGAGTGGGGGAGCTGGAACTGCCCCCTACACCTTTTTCCCAACTGCCTCTTCTCTTGGAGCACAGTTTGAAAACTACTGAGACCCAGAAGATCTTTTGGCCCATTCGCTCTGTTCCTCTCTAGTCCAAGCCGCTGAAGGGCAGTGACCCCAGGACACTCCTTACCTGTTCTGGCCGAGCTGGGATTCATAAGAGGTGCTGGTGGGGTCCAAGGTGG... | TTTGAACTTGATTTTTTTTAATACAGCAGGGCCTCTTTTCAATTAAAATATTTCCTAGGCAGCTGGAATGTGTAACAGATAAGAGCACAGTAACTCAAGGTTGGAGAGTGGGGGAGCTGGAACTGCCCCCTACACCTTTTTCCCAACTGCCTCTTCTCTTGGAGCACAGTTTGAAAACTACTGAGACCCAGAAGATCTTTTGGCCCATTCGCTCTGTTCCTCTCTAGTCCAAGCCGCTGAAGGGCAGTGACCCCAGGACACTCCTTACCTGTTCTGGCCGAGCTGGGATTCATAAGAGGTGCTGGTGGGGTCCAAGGTGG... | pathogenic | 30,489 |
Variant chromosome 2, position 29072456, gene PCARE (photoreceptor cilium actin regulator): benign or pathogenic? Disease(s)? | pathogenic; ['Cone-rod_dystrophy', 'Cone-rod_dystrophy_23'] | GAGCACAGTAACTCAAGGTTGGAGAGTGGGGGAGCTGGAACTGCCCCCTACACCTTTTTCCCAACTGCCTCTTCTCTTGGAGCACAGTTTGAAAACTACTGAGACCCAGAAGATCTTTTGGCCCATTCGCTCTGTTCCTCTCTAGTCCAAGCCGCTGAAGGGCAGTGACCCCAGGACACTCCTTACCTGTTCTGGCCGAGCTGGGATTCATAAGAGGTGCTGGTGGGGTCCAAGGTGGGAGGCTGCGGTCGGCCACCTGGCTGGCGGTCAGAAGCTGTCCTCCTGAGGAAAGGCAGAGGGTTGAGGGCACACAGAGCTGC... | GAGCACAGTAACTCAAGGTTGGAGAGTGGGGGAGCTGGAACTGCCCCCTACACCTTTTTCCCAACTGCCTCTTCTCTTGGAGCACAGTTTGAAAACTACTGAGACCCAGAAGATCTTTTGGCCCATTCGCTCTGTTCCTCTCTAGTCCAAGCCGCTGAAGGGCAGTGACCCCAGGACACTCCTTACCTGTTCTGGCCGAGCTGGGATTCATAAGAGGTGCTGGTGGGGTCCAAGGTGGGAGGCTGCGGTCGGCCACCTGGCTGGCGGTCAGAAGCTGTCCTCCTGAGGAAAGGCAGAGGGTTGAGGGCACACAGAGCTGC... | pathogenic | 30,495 |
Clinically, how would you classify the variant at chromosome 2, position 29072533, gene PCARE (photoreceptor cilium actin regulator): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['PCARE-related_disorder', 'Retinal_dystrophy'] | TGGAGCACAGTTTGAAAACTACTGAGACCCAGAAGATCTTTTGGCCCATTCGCTCTGTTCCTCTCTAGTCCAAGCCGCTGAAGGGCAGTGACCCCAGGACACTCCTTACCTGTTCTGGCCGAGCTGGGATTCATAAGAGGTGCTGGTGGGGTCCAAGGTGGGAGGCTGCGGTCGGCCACCTGGCTGGCGGTCAGAAGCTGTCCTCCTGAGGAAAGGCAGAGGGTTGAGGGCACACAGAGCTGCTCTCCGCTGCGAGTCTGCTCTCAGCCAAGGCCCTGAGCTGTTCTTCCAGCATTCTGCTGGGTTCCCGAGAGGGCCCC... | TGGAGCACAGTTTGAAAACTACTGAGACCCAGAAGATCTTTTGGCCCATTCGCTCTGTTCCTCTCTAGTCCAAGCCGCTGAAGGGCAGTGACCCCAGGACACTCCTTACCTGTTCTGGCCGAGCTGGGATTCATAAGAGGTGCTGGTGGGGTCCAAGGTGGGAGGCTGCGGTCGGCCACCTGGCTGGCGGTCAGAAGCTGTCCTCCTGAGGAAAGGCAGAGGGTTGAGGGCACACAGAGCTGCTCTCCGCTGCGAGTCTGCTCTCAGCCAAGGCCCTGAGCTGTTCTTCCAGCATTCTGCTGGGTTCCCGAGAGGGCCCC... | pathogenic | 30,497 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 29072716, gene PCARE (photoreceptor cilium actin regulator): what disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_54'] | CTGGCGGTCAGAAGCTGTCCTCCTGAGGAAAGGCAGAGGGTTGAGGGCACACAGAGCTGCTCTCCGCTGCGAGTCTGCTCTCAGCCAAGGCCCTGAGCTGTTCTTCCAGCATTCTGCTGGGTTCCCGAGAGGGCCCCCAGCCTCTGGCGGCAGCGATGGTGGGGTCAGTGGGTGGGCTGTTGAGAGTGGCGGTTTAGCTTCAAACAGAGAGGAGGTAGCTGGGCAGAATATGGAATGTGTGTTCCCAGACACTTTGGCTATGACTGCTTGGCTGTCTTCAGAGTCTCTTGTTTCCTTGTGCTCCTGAGAAGGGGACATTG... | CTGGCGGTCAGAAGCTGTCCTCCTGAGGAAAGGCAGAGGGTTGAGGGCACACAGAGCTGCTCTCCGCTGCGAGTCTGCTCTCAGCCAAGGCCCTGAGCTGTTCTTCCAGCATTCTGCTGGGTTCCCGAGAGGGCCCCCAGCCTCTGGCGGCAGCGATGGTGGGGTCAGTGGGTGGGCTGTTGAGAGTGGCGGTTTAGCTTCAAACAGAGAGGAGGTAGCTGGGCAGAATATGGAATGTGTGTTCCCAGACACTTTGGCTATGACTGCTTGGCTGTCTTCAGAGTCTCTTGTTTCCTTGTGCTCCTGAGAAGGGGACATTG... | pathogenic | 30,498 |
The chromosome 2, position 29072720 genetic variant in gene PCARE (photoreceptor cilium actin regulator): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_54'] | CGGTCAGAAGCTGTCCTCCTGAGGAAAGGCAGAGGGTTGAGGGCACACAGAGCTGCTCTCCGCTGCGAGTCTGCTCTCAGCCAAGGCCCTGAGCTGTTCTTCCAGCATTCTGCTGGGTTCCCGAGAGGGCCCCCAGCCTCTGGCGGCAGCGATGGTGGGGTCAGTGGGTGGGCTGTTGAGAGTGGCGGTTTAGCTTCAAACAGAGAGGAGGTAGCTGGGCAGAATATGGAATGTGTGTTCCCAGACACTTTGGCTATGACTGCTTGGCTGTCTTCAGAGTCTCTTGTTTCCTTGTGCTCCTGAGAAGGGGACATTGGGGG... | CGGTCAGAAGCTGTCCTCCTGAGGAAAGGCAGAGGGTTGAGGGCACACAGAGCTGCTCTCCGCTGCGAGTCTGCTCTCAGCCAAGGCCCTGAGCTGTTCTTCCAGCATTCTGCTGGGTTCCCGAGAGGGCCCCCAGCCTCTGGCGGCAGCGATGGTGGGGTCAGTGGGTGGGCTGTTGAGAGTGGCGGTTTAGCTTCAAACAGAGAGGAGGTAGCTGGGCAGAATATGGAATGTGTGTTCCCAGACACTTTGGCTATGACTGCTTGGCTGTCTTCAGAGTCTCTTGTTTCCTTGTGCTCCTGAGAAGGGGACATTGGGGG... | pathogenic | 30,499 |
Variant in gene PCARE (photoreceptor cilium actin regulator), located at chromosome 2 position 29072736: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_retinitis_pigmentosa', 'Retinal_dystrophy'] | TCCTGAGGAAAGGCAGAGGGTTGAGGGCACACAGAGCTGCTCTCCGCTGCGAGTCTGCTCTCAGCCAAGGCCCTGAGCTGTTCTTCCAGCATTCTGCTGGGTTCCCGAGAGGGCCCCCAGCCTCTGGCGGCAGCGATGGTGGGGTCAGTGGGTGGGCTGTTGAGAGTGGCGGTTTAGCTTCAAACAGAGAGGAGGTAGCTGGGCAGAATATGGAATGTGTGTTCCCAGACACTTTGGCTATGACTGCTTGGCTGTCTTCAGAGTCTCTTGTTTCCTTGTGCTCCTGAGAAGGGGACATTGGGGGTGATGGGGAGGGAATC... | TCCTGAGGAAAGGCAGAGGGTTGAGGGCACACAGAGCTGCTCTCCGCTGCGAGTCTGCTCTCAGCCAAGGCCCTGAGCTGTTCTTCCAGCATTCTGCTGGGTTCCCGAGAGGGCCCCCAGCCTCTGGCGGCAGCGATGGTGGGGTCAGTGGGTGGGCTGTTGAGAGTGGCGGTTTAGCTTCAAACAGAGAGGAGGTAGCTGGGCAGAATATGGAATGTGTGTTCCCAGACACTTTGGCTATGACTGCTTGGCTGTCTTCAGAGTCTCTTGTTTCCTTGTGCTCCTGAGAAGGGGACATTGGGGGTGATGGGGAGGGAATC... | pathogenic | 30,500 |
The mutation in gene PCARE (photoreceptor cilium actin regulator) at chromosome 2, position 29073032—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_54'] | ATTGGGGGTGATGGGGAGGGAATCGAGAAAGGGGGGCTTGCTTCTGGGTGCTGGGTTGGGGGGCTGGGGACCTTGCACTGAGCAGGTGCACTCTCGGGGGGAGGGTTGGGCAACTTGGGCTGGTGCGGTGGGGAAGTTCGCCGCTTTGTGGTGGGTGGGCTTAGCACCCTGGGGCTCACAGGTGGGCTGGGGGGCGTCTGCACAGCAGAGGGGCTTGGCTGGGCAGGTCTGTAAGAGGAGGGAAGGCTCCGGCGCCTCTTGTCTGCTTGAGGCACCCAGTGTGTCCTCGTGGGAGAGGCCTTTCTGCCCACAGGGGGGCT... | ATTGGGGGTGATGGGGAGGGAATCGAGAAAGGGGGGCTTGCTTCTGGGTGCTGGGTTGGGGGGCTGGGGACCTTGCACTGAGCAGGTGCACTCTCGGGGGGAGGGTTGGGCAACTTGGGCTGGTGCGGTGGGGAAGTTCGCCGCTTTGTGGTGGGTGGGCTTAGCACCCTGGGGCTCACAGGTGGGCTGGGGGGCGTCTGCACAGCAGAGGGGCTTGGCTGGGCAGGTCTGTAAGAGGAGGGAAGGCTCCGGCGCCTCTTGTCTGCTTGAGGCACCCAGTGTGTCCTCGTGGGAGAGGCCTTTCTGCCCACAGGGGGGCT... | pathogenic | 30,505 |
Does the chromosome 2 mutation at position 29073303 within gene PCARE (photoreceptor cilium actin regulator) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_54'] | GCACCCAGTGTGTCCTCGTGGGAGAGGCCTTTCTGCCCACAGGGGGGCTTCTCTCTCGGCTCTGCCTTGGTCTGGCCAGGCTGGACTCTGAGGTCCTGTTTTGTCCAGATGGAGGGCCGGAGTGGTGCCAGGCGATGGCCTTCCGGGGCTGCCTGTAGAGGCTGGTGGCCTTCTCTGCCTGACTCCAAGTCCCACCCTTCACCTCGGGGCTTTGGCTGGTGGCTGGTGGGCTGCTCAGGTCCAGGGCTGGCTTCCTGGGCTGGCAGCTGCTCCTGCCACTCCCTGGCCCTGTGCTGTGAGGCTTGGTCAGGCTGGCGGTG... | GCACCCAGTGTGTCCTCGTGGGAGAGGCCTTTCTGCCCACAGGGGGGCTTCTCTCTCGGCTCTGCCTTGGTCTGGCCAGGCTGGACTCTGAGGTCCTGTTTTGTCCAGATGGAGGGCCGGAGTGGTGCCAGGCGATGGCCTTCCGGGGCTGCCTGTAGAGGCTGGTGGCCTTCTCTGCCTGACTCCAAGTCCCACCCTTCACCTCGGGGCTTTGGCTGGTGGCTGGTGGGCTGCTCAGGTCCAGGGCTGGCTTCCTGGGCTGGCAGCTGCTCCTGCCACTCCCTGGCCCTGTGCTGTGAGGCTTGGTCAGGCTGGCGGTG... | pathogenic | 30,509 |
Clinical significance of chromosome 2, position 29073484, gene PCARE (photoreceptor cilium actin regulator): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa'] | ACTCCAAGTCCCACCCTTCACCTCGGGGCTTTGGCTGGTGGCTGGTGGGCTGCTCAGGTCCAGGGCTGGCTTCCTGGGCTGGCAGCTGCTCCTGCCACTCCCTGGCCCTGTGCTGTGAGGCTTGGTCAGGCTGGCGGTGCTCTTGCTGGGCAGCAAGTCCAGGGGGCTCACAGAGGCCCTCAGCTTTGGGGAAGCCCATGTTCTCCTGGTGGGGCCAGCCTCTCCCGGCCCTGGCTCCTGGGTTTCCTTGGGGGAGTTCTCTGTGGACTTGCTGCTTTCTGGGGACTCCAGAGAAGCGAATGATTTGTCCATCAGAACTT... | ACTCCAAGTCCCACCCTTCACCTCGGGGCTTTGGCTGGTGGCTGGTGGGCTGCTCAGGTCCAGGGCTGGCTTCCTGGGCTGGCAGCTGCTCCTGCCACTCCCTGGCCCTGTGCTGTGAGGCTTGGTCAGGCTGGCGGTGCTCTTGCTGGGCAGCAAGTCCAGGGGGCTCACAGAGGCCCTCAGCTTTGGGGAAGCCCATGTTCTCCTGGTGGGGCCAGCCTCTCCCGGCCCTGGCTCCTGGGTTTCCTTGGGGGAGTTCTCTGTGGACTTGCTGCTTTCTGGGGACTCCAGAGAAGCGAATGATTTGTCCATCAGAACTT... | pathogenic | 30,512 |
Variant on chromosome 2, at position 29073783, affecting PCARE (photoreceptor cilium actin regulator): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cone-rod_dystrophy', 'PCARE-related_retinopathy'] | ATGATTTGTCCATCAGAACTTCCATAGGCGGTGGAGGGAGGTGCTCGAGGTTCCCCTCCATTTCACAGCTGAGCTCCTCACTCTTGGCTGCTTCTGCTTTAGGCAGAGGGGGAAAGATAGGTGCTAAGGGCTTCCAGCCTATGCCCATTTTGAGAGATTCTCTGCCTGATGCTGGAGAAATTTGGGGCTTCGGATACAAAGGGGCAAGCCCTGTGTACTTGGGAAATCTGGGGGGCATGATGCAATTCCTGAGGCAGGGACTTGCCCCAGCGTCCTTAGAGTCCCCCAGCATCCTCAGACTCTCCGTGGGACTGAAAGTT... | ATGATTTGTCCATCAGAACTTCCATAGGCGGTGGAGGGAGGTGCTCGAGGTTCCCCTCCATTTCACAGCTGAGCTCCTCACTCTTGGCTGCTTCTGCTTTAGGCAGAGGGGGAAAGATAGGTGCTAAGGGCTTCCAGCCTATGCCCATTTTGAGAGATTCTCTGCCTGATGCTGGAGAAATTTGGGGCTTCGGATACAAAGGGGCAAGCCCTGTGTACTTGGGAAATCTGGGGGGCATGATGCAATTCCTGAGGCAGGGACTTGCCCCAGCGTCCTTAGAGTCCCCCAGCATCCTCAGACTCTCCGTGGGACTGAAAGTT... | pathogenic | 30,517 |
Located at chromosome 2 position 29073856, the variant affecting gene PCARE (photoreceptor cilium actin regulator)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Retinal_dystrophy'] | CTCCTCACTCTTGGCTGCTTCTGCTTTAGGCAGAGGGGGAAAGATAGGTGCTAAGGGCTTCCAGCCTATGCCCATTTTGAGAGATTCTCTGCCTGATGCTGGAGAAATTTGGGGCTTCGGATACAAAGGGGCAAGCCCTGTGTACTTGGGAAATCTGGGGGGCATGATGCAATTCCTGAGGCAGGGACTTGCCCCAGCGTCCTTAGAGTCCCCCAGCATCCTCAGACTCTCCGTGGGACTGAAAGTTTCAATAAGCTTCTTGACGGATGTTCTGGTGGGACAGCCTCTGACATTCCAGTCTGTGGCCTTGGCAGCCTCAC... | CTCCTCACTCTTGGCTGCTTCTGCTTTAGGCAGAGGGGGAAAGATAGGTGCTAAGGGCTTCCAGCCTATGCCCATTTTGAGAGATTCTCTGCCTGATGCTGGAGAAATTTGGGGCTTCGGATACAAAGGGGCAAGCCCTGTGTACTTGGGAAATCTGGGGGGCATGATGCAATTCCTGAGGCAGGGACTTGCCCCAGCGTCCTTAGAGTCCCCCAGCATCCTCAGACTCTCCGTGGGACTGAAAGTTTCAATAAGCTTCTTGACGGATGTTCTGGTGGGACAGCCTCTGACATTCCAGTCTGTGGCCTTGGCAGCCTCAC... | pathogenic | 30,519 |
The genetic variant at chromosome 2, position 29193159, affecting gene ALK (ALK receptor tyrosine kinase): benign or pathogenic? Disease name(s) if pathogenic? | benign | GTGGTAGAAAGGCACAACCTGAAAATGTAATGGATTTGTCGTTCTTAAAAGTGGAAAGAAGTAATATTTTCCCCATGAATAACAATAAAGAGATGGCTATTTAACCAGATAGCTTACTCCCAGCTTAATTGGTTACTGATGTTACAAATCTAAAATGGAGGTGTTTTTCTCAGTTATTGACAACTCCTCTGTCAGTATCCTTTAGGAAGAGTGTTTCTCAAAGTGATATTCTCGAGCCCCTTCAGATGGTCTGTGAGTTAAATAATGTGTATATGATTAGGCTACTTTTGTGCCTGGCATGAACCAGAATTTTACCGATA... | GTGGTAGAAAGGCACAACCTGAAAATGTAATGGATTTGTCGTTCTTAAAAGTGGAAAGAAGTAATATTTTCCCCATGAATAACAATAAAGAGATGGCTATTTAACCAGATAGCTTACTCCCAGCTTAATTGGTTACTGATGTTACAAATCTAAAATGGAGGTGTTTTTCTCAGTTATTGACAACTCCTCTGTCAGTATCCTTTAGGAAGAGTGTTTCTCAAAGTGATATTCTCGAGCCCCTTCAGATGGTCTGTGAGTTAAATAATGTGTATATGATTAGGCTACTTTTGTGCCTGGCATGAACCAGAATTTTACCGATA... | benign | 30,528 |
Variant at chromosome position 29193781, chromosome 2, gene ALK (ALK receptor tyrosine kinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TTGGTAATGTTTAGTAACTAGCAAGTAATAAGAGAATTGCTTTCCTCTTGAATGCTTTGGTGTAGCTACCAACAGGAAAGAAAGTGGGCGTGAGGCTAGAGGAGAAGCAGAAAGAGGATGAAATGAGGACTTACTGATAAAGCATTCTAAGCATTACACACATAAGTATGTGTGTAAAATTAAACAGATTCCCAATGCGTTTTCATGGAAGTAAAATTCATCTGTGAAAACCAAGTTCAGAACTCCCACTCTAACATGTCAATGTCAACCTCAACTCTCCAAGGGTTCCACAATTCCTTTCCTCATCGCCTCCTAGGGAA... | TTGGTAATGTTTAGTAACTAGCAAGTAATAAGAGAATTGCTTTCCTCTTGAATGCTTTGGTGTAGCTACCAACAGGAAAGAAAGTGGGCGTGAGGCTAGAGGAGAAGCAGAAAGAGGATGAAATGAGGACTTACTGATAAAGCATTCTAAGCATTACACACATAAGTATGTGTGTAAAATTAAACAGATTCCCAATGCGTTTTCATGGAAGTAAAATTCATCTGTGAAAACCAAGTTCAGAACTCCCACTCTAACATGTCAATGTCAACCTCAACTCTCCAAGGGTTCCACAATTCCTTTCCTCATCGCCTCCTAGGGAA... | benign | 30,630 |
Evaluate if the mutation on chromosome 2 at position 29207278 in ALK (ALK receptor tyrosine kinase) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TTTATATGTGTGTTTTCTTCAGATTAGAATATTTTCTTAAATGTTTGTTGATTCTTGGCTGTCTGTTCATATTTTAAGACTGGGATATTAAGAAGCCAGTAGAAAGTTCTGTGTAACACATTGGCTGGTGGGTAGCTTGCTTGCTTGTTTCACTAGCTGTAATTTTCTGTGACTGTTGTAAAAAACAAAACCAACCAACCAACCAAACAACCACATGCTTGGTGGCTTAAAACAACATAAGTTCATTCTCTGACAGTTCTGAAGGCCGGACATCTGAAACTGGTATCACAGGACTGAAATCAAGGCATCAGCAGGGCTGT... | TTTATATGTGTGTTTTCTTCAGATTAGAATATTTTCTTAAATGTTTGTTGATTCTTGGCTGTCTGTTCATATTTTAAGACTGGGATATTAAGAAGCCAGTAGAAAGTTCTGTGTAACACATTGGCTGGTGGGTAGCTTGCTTGCTTGTTTCACTAGCTGTAATTTTCTGTGACTGTTGTAAAAAACAAAACCAACCAACCAACCAAACAACCACATGCTTGGTGGCTTAAAACAACATAAGTTCATTCTCTGACAGTTCTGAAGGCCGGACATCTGAAACTGGTATCACAGGACTGAAATCAAGGCATCAGCAGGGCTGT... | benign | 30,682 |
A genetic alteration at chromosome 2, position 29232292, in gene ALK (ALK receptor tyrosine kinase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TATTTAGGGAATAAGTCTGTACATGTTCAGTAAAGACACAATCATCTTTTTTTTTTTTTTTGAGTATTTTTGATCTGTGGTTGGTTGAATCCCACGAACGCAGAACTGATGGATAGGAAAGGGTGGAGGTATTCTAAAAACCCTAAAACCCTTTCTGCTGCAGCAGATGATGCATGCTGGGGACCTGGAAATTGATGGTGGAAGGCAGAAACAGCAGTGTGTGTGTCTGCCGGAACCCTACGGGTGAACCGGCCTGGCAGGGTTTCTGGAAGCACTTGTGGCCCAGATTCTTTGGGACCCAGAGGGACCTGTAGGTGGGA... | TATTTAGGGAATAAGTCTGTACATGTTCAGTAAAGACACAATCATCTTTTTTTTTTTTTTTGAGTATTTTTGATCTGTGGTTGGTTGAATCCCACGAACGCAGAACTGATGGATAGGAAAGGGTGGAGGTATTCTAAAAACCCTAAAACCCTTTCTGCTGCAGCAGATGATGCATGCTGGGGACCTGGAAATTGATGGTGGAAGGCAGAAACAGCAGTGTGTGTGTCTGCCGGAACCCTACGGGTGAACCGGCCTGGCAGGGTTTCTGGAAGCACTTGTGGCCCAGATTCTTTGGGACCCAGAGGGACCTGTAGGTGGGA... | benign | 30,865 |
Clinical classification of chromosome 2, position 29383877, gene ALK (ALK receptor tyrosine kinase): benign or pathogenic? Disease(s) if pathogenic? | benign | ATTTTAGGATGATTCTTATGTCTGCAATTTGTCTATGCCTACTGATGCGCACCTGAATTTGTCTTCTATGGGAAGGAAATTTAGAAGTTCTAAGCAAACACTGAGATCACCTTGTTCTTCACTATTCTCTGCCTTACACATCCGTATCAATCAATCCCTCCCCATCCCTTGTTGACCACAGGCGGTCTGACCCAGAGAAGAATCACAGAGAACATTTGCCTCCTCATGGAGACCATCTGTTCTTGGAGCTAGAGCCACTGAAAGAAGGAAGCTGGACCATGAGAACTTCCCCAGGTATCTGGGCCAAGCCACTTTCTCTA... | ATTTTAGGATGATTCTTATGTCTGCAATTTGTCTATGCCTACTGATGCGCACCTGAATTTGTCTTCTATGGGAAGGAAATTTAGAAGTTCTAAGCAAACACTGAGATCACCTTGTTCTTCACTATTCTCTGCCTTACACATCCGTATCAATCAATCCCTCCCCATCCCTTGTTGACCACAGGCGGTCTGACCCAGAGAAGAATCACAGAGAACATTTGCCTCCTCATGGAGACCATCTGTTCTTGGAGCTAGAGCCACTGAAAGAAGGAAGCTGGACCATGAGAACTTCCCCAGGTATCTGGGCCAAGCCACTTTCTCTA... | benign | 31,102 |
Variant on chromosome 2, at position 29920632, affecting ALK (ALK receptor tyrosine kinase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CTAATGTTGAAATGTGCATCCGCACTCTGTTTTTCTTGGGGGTCACATACTAGTATGTATTCTGTGCAATGACTAGGGAACCTCAGCTTCTGAATATCCCTCCTGCATGAGAGTACTCGTGTGTGTGTGTATGTGTGTGCACAAGCATGCAAGATACTTGTAGCTCTACAATGGGCCCTTTTCAATGGTTTCCATCCAATTAATATTAGACATTAGTAGCCAGTGGAGCATAAGAACTTCATTTATTTCTGATGATGAGAATGATAGAAAAGAAGCTGGGTTTGCTTGATGGAATTTGTGTAGGCTTTTTAAAAGCCTGA... | CTAATGTTGAAATGTGCATCCGCACTCTGTTTTTCTTGGGGGTCACATACTAGTATGTATTCTGTGCAATGACTAGGGAACCTCAGCTTCTGAATATCCCTCCTGCATGAGAGTACTCGTGTGTGTGTGTATGTGTGTGCACAAGCATGCAAGATACTTGTAGCTCTACAATGGGCCCTTTTCAATGGTTTCCATCCAATTAATATTAGACATTAGTAGCCAGTGGAGCATAAGAACTTCATTTATTTCTGATGATGAGAATGATAGAAAAGAAGCTGGGTTTGCTTGATGGAATTTGTGTAGGCTTTTTAAAAGCCTGA... | benign | 31,326 |
Assess the variant on chromosome 2, position 31349616, impacting XDH (xanthine dehydrogenase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GGAGAGGTGTTGGGCACAGTGTTAGTGCTTGTCTCGCTGATATAAATCTTAGAGGTGGGGATTTTCAGAGCTCTACTGGCCACCTGCGAAAAGAGAAGACATTGCCCTCTAGGGAAGGGGTTATCATGGGGCTTGGCTGCCTTCTCCCCAAGACAGGATTCACATTCACTGTTACAGGCAAGAAAACAATTTCGTAAACTCTAATCTCATTGTCTGGGATGTCCTTACATCTGGCTGAATTTGAAGGAGCACTTGGTGGAGTTCGGTTGGATAAAAAATTCATAAACTGACAAACAGTGCCTTTTTACACTAACACTCAC... | GGAGAGGTGTTGGGCACAGTGTTAGTGCTTGTCTCGCTGATATAAATCTTAGAGGTGGGGATTTTCAGAGCTCTACTGGCCACCTGCGAAAAGAGAAGACATTGCCCTCTAGGGAAGGGGTTATCATGGGGCTTGGCTGCCTTCTCCCCAAGACAGGATTCACATTCACTGTTACAGGCAAGAAAACAATTTCGTAAACTCTAATCTCATTGTCTGGGATGTCCTTACATCTGGCTGAATTTGAAGGAGCACTTGGTGGAGTTCGGTTGGATAAAAAATTCATAAACTGACAAACAGTGCCTTTTTACACTAACACTCAC... | benign | 31,374 |
The mutation in gene XDH (xanthine dehydrogenase) at chromosome 2, position 31349764—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_xanthinuria_type_1', 'Xanthinuria_type_II'] | CAAGACAGGATTCACATTCACTGTTACAGGCAAGAAAACAATTTCGTAAACTCTAATCTCATTGTCTGGGATGTCCTTACATCTGGCTGAATTTGAAGGAGCACTTGGTGGAGTTCGGTTGGATAAAAAATTCATAAACTGACAAACAGTGCCTTTTTACACTAACACTCACTTTTCAAAAGATCCAATCTGGCCAGTCTCCATGCGCCAAGCAGATGTGCTGACTCTAATCCAGCTCATTGTCCTCACTCCACTCCGAGGAGTCTTGGAATGTGGGAAACTCGCGACCTTTACACACAGAGCATGCCCGCCTCACACAC... | CAAGACAGGATTCACATTCACTGTTACAGGCAAGAAAACAATTTCGTAAACTCTAATCTCATTGTCTGGGATGTCCTTACATCTGGCTGAATTTGAAGGAGCACTTGGTGGAGTTCGGTTGGATAAAAAATTCATAAACTGACAAACAGTGCCTTTTTACACTAACACTCACTTTTCAAAAGATCCAATCTGGCCAGTCTCCATGCGCCAAGCAGATGTGCTGACTCTAATCCAGCTCATTGTCCTCACTCCACTCCGAGGAGTCTTGGAATGTGGGAAACTCGCGACCTTTACACACAGAGCATGCCCGCCTCACACAC... | pathogenic | 31,376 |
Mutation found at chromosome 2 position 31366917, gene XDH (xanthine dehydrogenase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_xanthinuria_type_1', 'Xanthinuria_type_II'] | TCATGGAGAGAGGGCTCTCAGGTTTCTAGAGCTAGGCGGAGCCCCATAAGGCTTTGCTGATGTGTACAGGGAAAGGGTGCATTGGTCATCCACAGAAACCCAGAAGAGGGACTGTCCCAGAGAGAAGTGTGGACCGTGTCCAACCATGGTCTGGAAAAGTACATACCCATCCTAACATCTTGGGCCTGTCCAGGCCCCTGGGAAGTTTTATTTCTCACAGTAAATTACTAAGCTGTCATTCCAATTTTTACATCAGGCCTGTGATCATGTTAATGTTGGGCTACCAAGCGCGATGGTTTACCCTGAGTATGCTGGTGAAT... | TCATGGAGAGAGGGCTCTCAGGTTTCTAGAGCTAGGCGGAGCCCCATAAGGCTTTGCTGATGTGTACAGGGAAAGGGTGCATTGGTCATCCACAGAAACCCAGAAGAGGGACTGTCCCAGAGAGAAGTGTGGACCGTGTCCAACCATGGTCTGGAAAAGTACATACCCATCCTAACATCTTGGGCCTGTCCAGGCCCCTGGGAAGTTTTATTTCTCACAGTAAATTACTAAGCTGTCATTCCAATTTTTACATCAGGCCTGTGATCATGTTAATGTTGGGCTACCAAGCGCGATGGTTTACCCTGAGTATGCTGGTGAAT... | pathogenic | 31,390 |
Does the chromosome 2 mutation at position 31368518 within gene XDH (xanthine dehydrogenase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TAATTTAGTGGTCCCTGTGGCTATGACTTAATCCAACACCTTCATTTTACATATGAGGAAACTGAGGCAGGATATGACTTGACCGAGGCCATAGGCACTGAAATGATAACTGCCAACATGTACCAAACTCTAGTCTAAATATTAAAACTCATCTAATAATTATGACAACCCACCCAGGCCCCATTTTATAAATGAGAAAACTGAGGCTGAGAAAGGTTATGGAACAAGGTCAGTGATACCAGCTTGTTGGTGAAAGAGTCTGGCTCCAGGACTATGACACTCGAGTACCCTCTGGACCAGCCCACATCTCCCTCTTCCTA... | TAATTTAGTGGTCCCTGTGGCTATGACTTAATCCAACACCTTCATTTTACATATGAGGAAACTGAGGCAGGATATGACTTGACCGAGGCCATAGGCACTGAAATGATAACTGCCAACATGTACCAAACTCTAGTCTAAATATTAAAACTCATCTAATAATTATGACAACCCACCCAGGCCCCATTTTATAAATGAGAAAACTGAGGCTGAGAAAGGTTATGGAACAAGGTCAGTGATACCAGCTTGTTGGTGAAAGAGTCTGGCTCCAGGACTATGACACTCGAGTACCCTCTGGACCAGCCCACATCTCCCTCTTCCTA... | benign | 31,396 |
Does the genetic variant at chromosome 2, position 31387820, impacting gene XDH (xanthine dehydrogenase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_xanthinuria_type_1', 'Xanthinuria_type_II'] | AGGGCAGGTGGCCATGGTCATAGGCAACACAAACACAGTCACACCTGGAGCTCTCCTCTTCTTTACCTTATCACATCCTCCCCCAGAAAAAGTGGGGTGGTGGGGTCAAAAGCGACATTTATGGAACCTCTAGTGTCCATCAGCCACTGGCCTAGACACTTTGCTTAAATTAGTTCCTCCTCCCTTAGACTAGAAGGCCCTTGAAGGCAAGGAACCATGTCCAATTGAGCTTTGTATCCCAAGCCCCTTCCAGAGTACCTGGCTCATGCTCGGTGCTCTGTAAATGTTTGTGGAGAGAAGTCAACTACATGCAAGGATCT... | AGGGCAGGTGGCCATGGTCATAGGCAACACAAACACAGTCACACCTGGAGCTCTCCTCTTCTTTACCTTATCACATCCTCCCCCAGAAAAAGTGGGGTGGTGGGGTCAAAAGCGACATTTATGGAACCTCTAGTGTCCATCAGCCACTGGCCTAGACACTTTGCTTAAATTAGTTCCTCCTCCCTTAGACTAGAAGGCCCTTGAAGGCAAGGAACCATGTCCAATTGAGCTTTGTATCCCAAGCCCCTTCCAGAGTACCTGGCTCATGCTCGGTGCTCTGTAAATGTTTGTGGAGAGAAGTCAACTACATGCAAGGATCT... | pathogenic | 31,437 |
A genetic variant at chromosome 2, position 31403104, affecting gene XDH (xanthine dehydrogenase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_xanthinuria_type_1', 'Xanthinuria_type_II'] | CGGTACCCAGAGGAGATGGGGAGGTGGCCAGGGTGAAATGCCTTCTTAGATTAAGCAGTGAAACTCTTCCCAACAACCCAAAGCAAGTCTGCAACTTTGGCATGAGCCTCCCTGCAGAGGAAAGAGCCTGATCTCAAGAGCACAGCTCCCTTTCCTCTGTTTACCTGCACAGGATGCAGCCTCGTCTTGGTGCTTCCTATTCCTTCCACAGTTGTCACTGCAACATGGTGCAAGGAGCAGATGGGGGCCAGGCAGGCATTGGCAGAAAAGTGGCTAGAACCCCAGATTAAGGTCATTCCATTTATTGTCCACTCAGATCA... | CGGTACCCAGAGGAGATGGGGAGGTGGCCAGGGTGAAATGCCTTCTTAGATTAAGCAGTGAAACTCTTCCCAACAACCCAAAGCAAGTCTGCAACTTTGGCATGAGCCTCCCTGCAGAGGAAAGAGCCTGATCTCAAGAGCACAGCTCCCTTTCCTCTGTTTACCTGCACAGGATGCAGCCTCGTCTTGGTGCTTCCTATTCCTTCCACAGTTGTCACTGCAACATGGTGCAAGGAGCAGATGGGGGCCAGGCAGGCATTGGCAGAAAAGTGGCTAGAACCCCAGATTAAGGTCATTCCATTTATTGTCCACTCAGATCA... | pathogenic | 31,453 |
Variant in SRD5A2 (steroid 5 alpha-reductase 2), chromosome 2, position 31529348—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_deficiency'] | TATTAAAGTACCTTAGTTTGAATTAGGGGGCAAATAATAAGTTACAAAAGGTGGCTGGTTTTCGGTACTGTGATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCCCCTAACCAAGCACAGTAGAGTCCCTCCTTCCCAGG... | TATTAAAGTACCTTAGTTTGAATTAGGGGGCAAATAATAAGTTACAAAAGGTGGCTGGTTTTCGGTACTGTGATTTGAGAAGTCTGGTGGGCTGCCTCCGCCCGTGCTGCCTCTGATGTGAGTGCCTGGCTTTGTTTTATAGAAGCCTTCACAAAGTCCTGTTAGCCTATTAAAAACTATGCCTTCTGGCCCTTCTCTGGGAGGTCTGACATCACAGGATGAGGCCTCAATTTGGGTTTTGTTGTTGCAGCAGCTGGAAACGTCTGGTGGAATTACCATCCCTCCCCTAACCAAGCACAGTAGAGTCCCTCCTTCCCAGG... | pathogenic | 31,478 |
The mutation impacting SRD5A2 (steroid 5 alpha-reductase 2) on chromosome 2 at position 31533714: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_deficiency'] | TAGACTTGGGCTGAAAGTACACAGTGGCACCACTGATGGAGACAGATTAGAAAAGAGAGGAGAGCAGGAGGTAGCACCATTGTCCAGTATTTAAATAGATAAACAAACAAATGCATGGATCATAATAGTAAGCCTTTAGCTCATTCACAAACAGTCAAATCGAGGTTTCATATCTCAACAGCTGATTCCAGCCCCTTTTCTTTTGCCATCCCCCACTACAGAGGTTGCACTGAGAAAGGGGGTCACATGAGCTAGTTCCACCAATAAGATGTAAAGTGAAGTCTTGGTTGGGGGACTTCCTTGGAAATCGTTTGCTTTTC... | TAGACTTGGGCTGAAAGTACACAGTGGCACCACTGATGGAGACAGATTAGAAAAGAGAGGAGAGCAGGAGGTAGCACCATTGTCCAGTATTTAAATAGATAAACAAACAAATGCATGGATCATAATAGTAAGCCTTTAGCTCATTCACAAACAGTCAAATCGAGGTTTCATATCTCAACAGCTGATTCCAGCCCCTTTTCTTTTGCCATCCCCCACTACAGAGGTTGCACTGAGAAAGGGGGTCACATGAGCTAGTTCCACCAATAAGATGTAAAGTGAAGTCTTGGTTGGGGGACTTCCTTGGAAATCGTTTGCTTTTC... | pathogenic | 31,496 |
Classify the chromosome 2 variant at position 31533730 affecting gene SRD5A2 (steroid 5 alpha-reductase 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_deficiency'] | GTACACAGTGGCACCACTGATGGAGACAGATTAGAAAAGAGAGGAGAGCAGGAGGTAGCACCATTGTCCAGTATTTAAATAGATAAACAAACAAATGCATGGATCATAATAGTAAGCCTTTAGCTCATTCACAAACAGTCAAATCGAGGTTTCATATCTCAACAGCTGATTCCAGCCCCTTTTCTTTTGCCATCCCCCACTACAGAGGTTGCACTGAGAAAGGGGGTCACATGAGCTAGTTCCACCAATAAGATGTAAAGTGAAGTCTTGGTTGGGGGACTTCCTTGGAAATCGTTTGCTTTTCTGATAAAAGGTGCAGG... | GTACACAGTGGCACCACTGATGGAGACAGATTAGAAAAGAGAGGAGAGCAGGAGGTAGCACCATTGTCCAGTATTTAAATAGATAAACAAACAAATGCATGGATCATAATAGTAAGCCTTTAGCTCATTCACAAACAGTCAAATCGAGGTTTCATATCTCAACAGCTGATTCCAGCCCCTTTTCTTTTGCCATCCCCCACTACAGAGGTTGCACTGAGAAAGGGGGTCACATGAGCTAGTTCCACCAATAAGATGTAAAGTGAAGTCTTGGTTGGGGGACTTCCTTGGAAATCGTTTGCTTTTCTGATAAAAGGTGCAGG... | pathogenic | 31,497 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 31580806, gene SRD5A2 (steroid 5 alpha-reductase 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['3-Oxo-5_alpha-steroid_delta_4-dehydrogenase_deficiency'] | TTTGTTTTATGCATAATTACTCCTTTGGGTTTTTTTTTAAATGCACCGGTCATAATGTATTGTGCAAAGTGCCTTTTGATTTCAAAAACAAGCCTAAAGATTACATTAATATGATTGTCACAAAACACTAATCATTAAGATGAAATGACCTCATAAAAATATTGCTTATGTTGCCAACATACAGTAGTTAATTTGAAGATAAAAATAATTGTTGACAAAAATCACATTTCTGTCAAATGTCTGTTCAAAAATCAGTGAAATAAAAAACTAATCTCTTATCTCCTGTATCCAACATCCTTCTTTCTGTGCAAATTAAACCA... | TTTGTTTTATGCATAATTACTCCTTTGGGTTTTTTTTTAAATGCACCGGTCATAATGTATTGTGCAAAGTGCCTTTTGATTTCAAAAACAAGCCTAAAGATTACATTAATATGATTGTCACAAAACACTAATCATTAAGATGAAATGACCTCATAAAAATATTGCTTATGTTGCCAACATACAGTAGTTAATTTGAAGATAAAAATAATTGTTGACAAAAATCACATTTCTGTCAAATGTCTGTTCAAAAATCAGTGAAATAAAAAACTAATCTCTTATCTCCTGTATCCAACATCCTTCTTTCTGTGCAAATTAAACCA... | pathogenic | 31,513 |
The genetic variant at chromosome 2, position 31580810, affecting gene SRD5A2 (steroid 5 alpha-reductase 2): benign or pathogenic? Disease name(s) if pathogenic? | benign | TTTTATGCATAATTACTCCTTTGGGTTTTTTTTTAAATGCACCGGTCATAATGTATTGTGCAAAGTGCCTTTTGATTTCAAAAACAAGCCTAAAGATTACATTAATATGATTGTCACAAAACACTAATCATTAAGATGAAATGACCTCATAAAAATATTGCTTATGTTGCCAACATACAGTAGTTAATTTGAAGATAAAAATAATTGTTGACAAAAATCACATTTCTGTCAAATGTCTGTTCAAAAATCAGTGAAATAAAAAACTAATCTCTTATCTCCTGTATCCAACATCCTTCTTTCTGTGCAAATTAAACCATCTA... | TTTTATGCATAATTACTCCTTTGGGTTTTTTTTTAAATGCACCGGTCATAATGTATTGTGCAAAGTGCCTTTTGATTTCAAAAACAAGCCTAAAGATTACATTAATATGATTGTCACAAAACACTAATCATTAAGATGAAATGACCTCATAAAAATATTGCTTATGTTGCCAACATACAGTAGTTAATTTGAAGATAAAAATAATTGTTGACAAAAATCACATTTCTGTCAAATGTCTGTTCAAAAATCAGTGAAATAAAAAACTAATCTCTTATCTCCTGTATCCAACATCCTTCTTTCTGTGCAAATTAAACCATCTA... | benign | 31,514 |
Is the genetic mutation found on chromosome 2 at position 32063895, within the gene SPAST (spastin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_4'] | GGCAGGTTGCTTGAGCCCAGGAATTCAAGACCAACCTGGGAAACATAGCAAGACCCTGTCTCAACAAAAAAGTAAAAAAATTAGCTGGGGGCGCGATGGGGTGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCTGAGGCAGGCGGATTGCTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCTGGCTCTATAAAGAATACAAAAATTAGTCGGGCCCAGTGGCGTGTGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGTGGAAGGATCACCTGAGCCAGGGAGGTGGAGGTTGCAGTGAGTC... | GGCAGGTTGCTTGAGCCCAGGAATTCAAGACCAACCTGGGAAACATAGCAAGACCCTGTCTCAACAAAAAAGTAAAAAAATTAGCTGGGGGCGCGATGGGGTGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCTGAGGCAGGCGGATTGCTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCTGGCTCTATAAAGAATACAAAAATTAGTCGGGCCCAGTGGCGTGTGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGTGGAAGGATCACCTGAGCCAGGGAGGTGGAGGTTGCAGTGAGTC... | pathogenic | 31,519 |
A genetic variant on chromosome 2, position 32063995, affects the gene SPAST (spastin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_spastic_paraplegia_4'] | GTGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCTGAGGCAGGCGGATTGCTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCTGGCTCTATAAAGAATACAAAAATTAGTCGGGCCCAGTGGCGTGTGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGTGGAAGGATCACCTGAGCCAGGGAGGTGGAGGTTGCAGTGAGTCATGTTGTTTGCGCCACTGCACTCCAGCCTGGGCAATGGAGTGAAACCCTGTCCAAAAAATAAAAAAATAAAGCTGTGGCAGAATGTGGAGATTCTTGGAA... | GTGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCTGAGGCAGGCGGATTGCTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCTGGCTCTATAAAGAATACAAAAATTAGTCGGGCCCAGTGGCGTGTGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGTGGAAGGATCACCTGAGCCAGGGAGGTGGAGGTTGCAGTGAGTCATGTTGTTTGCGCCACTGCACTCCAGCCTGGGCAATGGAGTGAAACCCTGTCCAAAAAATAAAAAAATAAAGCTGTGGCAGAATGTGGAGATTCTTGGAA... | pathogenic | 31,524 |
Does the genetic variant at chromosome 2, position 32063996, impacting gene SPAST (spastin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_4'] | TGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCTGAGGCAGGCGGATTGCTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCTGGCTCTATAAAGAATACAAAAATTAGTCGGGCCCAGTGGCGTGTGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGTGGAAGGATCACCTGAGCCAGGGAGGTGGAGGTTGCAGTGAGTCATGTTGTTTGCGCCACTGCACTCCAGCCTGGGCAATGGAGTGAAACCCTGTCCAAAAAATAAAAAAATAAAGCTGTGGCAGAATGTGGAGATTCTTGGAAG... | TGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCTGAGGCAGGCGGATTGCTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCTGGCTCTATAAAGAATACAAAAATTAGTCGGGCCCAGTGGCGTGTGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGTGGAAGGATCACCTGAGCCAGGGAGGTGGAGGTTGCAGTGAGTCATGTTGTTTGCGCCACTGCACTCCAGCCTGGGCAATGGAGTGAAACCCTGTCCAAAAAATAAAAAAATAAAGCTGTGGCAGAATGTGGAGATTCTTGGAAG... | pathogenic | 31,526 |
Variant at chromosome 2, position 32064116, gene SPAST (spastin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_4'] | ATTAGTCGGGCCCAGTGGCGTGTGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGTGGAAGGATCACCTGAGCCAGGGAGGTGGAGGTTGCAGTGAGTCATGTTGTTTGCGCCACTGCACTCCAGCCTGGGCAATGGAGTGAAACCCTGTCCAAAAAATAAAAAAATAAAGCTGTGGCAGAATGTGGAGATTCTTGGAAGCTGGAAGCTCTCATGGGGCATTTGGAAACCTCACATTGTAAATAACGGAGTCTTTTTATCAGTTTGGCTTCCTTAGTTTTAGGAAACAAGAAATAATTATGGCTAACTCAAGTAAAAAGA... | ATTAGTCGGGCCCAGTGGCGTGTGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGTGGAAGGATCACCTGAGCCAGGGAGGTGGAGGTTGCAGTGAGTCATGTTGTTTGCGCCACTGCACTCCAGCCTGGGCAATGGAGTGAAACCCTGTCCAAAAAATAAAAAAATAAAGCTGTGGCAGAATGTGGAGATTCTTGGAAGCTGGAAGCTCTCATGGGGCATTTGGAAACCTCACATTGTAAATAACGGAGTCTTTTTATCAGTTTGGCTTCCTTAGTTTTAGGAAACAAGAAATAATTATGGCTAACTCAAGTAAAAAGA... | pathogenic | 31,530 |
Does the genetic variant at chromosome 2, position 32087523, impacting gene SPAST (spastin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_4'] | CCAAAGTGCTGGGATTATAGGCGTGAGCAAACTGTGCCCAGTCTTCATAAACTTTTCTTTACATGTCCTTATCAAGTACTTTTTGAGCACCTACTGTCAACCAGCCGTAGTATATAATACTGATAATTCTATAACATAAGAAATTGACCTGTTTAAGGGGATGAATATGGTTAGTTATTTTCAGGGTGAAGAAACAGAAGAATCGGGGAGGTAGTACATAGTCATAAGGAGACGGCATTTCTTAGTCACTTTGTGTGGTGTTTATAATAAGACTTCATGTGGCCAGGTGCGGTGGCTCGTGAGCGCCTGTAATCCCAGCA... | CCAAAGTGCTGGGATTATAGGCGTGAGCAAACTGTGCCCAGTCTTCATAAACTTTTCTTTACATGTCCTTATCAAGTACTTTTTGAGCACCTACTGTCAACCAGCCGTAGTATATAATACTGATAATTCTATAACATAAGAAATTGACCTGTTTAAGGGGATGAATATGGTTAGTTATTTTCAGGGTGAAGAAACAGAAGAATCGGGGAGGTAGTACATAGTCATAAGGAGACGGCATTTCTTAGTCACTTTGTGTGGTGTTTATAATAAGACTTCATGTGGCCAGGTGCGGTGGCTCGTGAGCGCCTGTAATCCCAGCA... | pathogenic | 31,544 |
Determine if the mutation at chromosome 2, position 32087539 in gene SPAST (spastin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_spastic_paraplegia_4'] | ATAGGCGTGAGCAAACTGTGCCCAGTCTTCATAAACTTTTCTTTACATGTCCTTATCAAGTACTTTTTGAGCACCTACTGTCAACCAGCCGTAGTATATAATACTGATAATTCTATAACATAAGAAATTGACCTGTTTAAGGGGATGAATATGGTTAGTTATTTTCAGGGTGAAGAAACAGAAGAATCGGGGAGGTAGTACATAGTCATAAGGAGACGGCATTTCTTAGTCACTTTGTGTGGTGTTTATAATAAGACTTCATGTGGCCAGGTGCGGTGGCTCGTGAGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG... | ATAGGCGTGAGCAAACTGTGCCCAGTCTTCATAAACTTTTCTTTACATGTCCTTATCAAGTACTTTTTGAGCACCTACTGTCAACCAGCCGTAGTATATAATACTGATAATTCTATAACATAAGAAATTGACCTGTTTAAGGGGATGAATATGGTTAGTTATTTTCAGGGTGAAGAAACAGAAGAATCGGGGAGGTAGTACATAGTCATAAGGAGACGGCATTTCTTAGTCACTTTGTGTGGTGTTTATAATAAGACTTCATGTGGCCAGGTGCGGTGGCTCGTGAGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG... | pathogenic | 31,545 |
Clinical significance of chromosome 2, position 32087545, gene SPAST (spastin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia_4'] | GTGAGCAAACTGTGCCCAGTCTTCATAAACTTTTCTTTACATGTCCTTATCAAGTACTTTTTGAGCACCTACTGTCAACCAGCCGTAGTATATAATACTGATAATTCTATAACATAAGAAATTGACCTGTTTAAGGGGATGAATATGGTTAGTTATTTTCAGGGTGAAGAAACAGAAGAATCGGGGAGGTAGTACATAGTCATAAGGAGACGGCATTTCTTAGTCACTTTGTGTGGTGTTTATAATAAGACTTCATGTGGCCAGGTGCGGTGGCTCGTGAGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAG... | GTGAGCAAACTGTGCCCAGTCTTCATAAACTTTTCTTTACATGTCCTTATCAAGTACTTTTTGAGCACCTACTGTCAACCAGCCGTAGTATATAATACTGATAATTCTATAACATAAGAAATTGACCTGTTTAAGGGGATGAATATGGTTAGTTATTTTCAGGGTGAAGAAACAGAAGAATCGGGGAGGTAGTACATAGTCATAAGGAGACGGCATTTCTTAGTCACTTTGTGTGGTGTTTATAATAAGACTTCATGTGGCCAGGTGCGGTGGCTCGTGAGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAG... | pathogenic | 31,546 |
Variant in gene SPAST (spastin), located at chromosome 2 position 32089579: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_4'] | GTATTGAAGAACTGGAAAAAGGAATAGCTGTTATAGTTACAGGACAAGGTAAGATTGTATTTGTTTATAGCCATCCCAAATTATGATATATTCACATGATTGTCCAGATTTCAGATCTATTTATTTATTTATTTATTTTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTTCCTCTGTTACCCAGGCTGGAGTGCAGTGATGTGATCATAGCTCACTGCAACCTCAAACTTCTGGGCTCAAGTGATCCTCCTGCCTCTGCTTCCCATGTAGCTGGGACCACAGGCGCACACTACC... | GTATTGAAGAACTGGAAAAAGGAATAGCTGTTATAGTTACAGGACAAGGTAAGATTGTATTTGTTTATAGCCATCCCAAATTATGATATATTCACATGATTGTCCAGATTTCAGATCTATTTATTTATTTATTTATTTTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTTCCTCTGTTACCCAGGCTGGAGTGCAGTGATGTGATCATAGCTCACTGCAACCTCAAACTTCTGGGCTCAAGTGATCCTCCTGCCTCTGCTTCCCATGTAGCTGGGACCACAGGCGCACACTACC... | pathogenic | 31,552 |
Located at chromosome 2 position 32114649, the variant affecting gene SPAST (spastin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_spastic_paraplegia_4'] | CTCCGAAAGTTCTGGGATTACAGGCGTAAGCCACCACGCCCAGCCTAATGTGGATTTTGTTTTTTTTTTTAACTTGAATTTTATTTATACTTCCTGATTTTATAATAGTTAACTTGTAGTAAAAGTAAACTGGTTGTCTAAATAAATAAGCTGATTTCCTATACTAGTTTAGAGTCTTTAGTTTTCTTAAACCGTATTAAGAGATTTGATTACAAAAGTAAAATTGAGGCTTTTGTCTTTTTTTTTGGCCACTCTAATTTGCTGACTGACTTAACATTTGTCTTCACAGTAAACATTGTAAATAAACACTGATGTTTGTT... | CTCCGAAAGTTCTGGGATTACAGGCGTAAGCCACCACGCCCAGCCTAATGTGGATTTTGTTTTTTTTTTTAACTTGAATTTTATTTATACTTCCTGATTTTATAATAGTTAACTTGTAGTAAAAGTAAACTGGTTGTCTAAATAAATAAGCTGATTTCCTATACTAGTTTAGAGTCTTTAGTTTTCTTAAACCGTATTAAGAGATTTGATTACAAAAGTAAAATTGAGGCTTTTGTCTTTTTTTTTGGCCACTCTAATTTGCTGACTGACTTAACATTTGTCTTCACAGTAAACATTGTAAATAAACACTGATGTTTGTT... | pathogenic | 31,557 |
The mutation impacting SPAST (spastin) on chromosome 2 at position 32114711: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia_4'] | TTTTTTTTAACTTGAATTTTATTTATACTTCCTGATTTTATAATAGTTAACTTGTAGTAAAAGTAAACTGGTTGTCTAAATAAATAAGCTGATTTCCTATACTAGTTTAGAGTCTTTAGTTTTCTTAAACCGTATTAAGAGATTTGATTACAAAAGTAAAATTGAGGCTTTTGTCTTTTTTTTTGGCCACTCTAATTTGCTGACTGACTTAACATTTGTCTTCACAGTAAACATTGTAAATAAACACTGATGTTTGTTGCGTAGTATGTAAAAATATTATTTAGGAGTGGTGAGATTTAAACATTTACAAACCTGTAATA... | TTTTTTTTAACTTGAATTTTATTTATACTTCCTGATTTTATAATAGTTAACTTGTAGTAAAAGTAAACTGGTTGTCTAAATAAATAAGCTGATTTCCTATACTAGTTTAGAGTCTTTAGTTTTCTTAAACCGTATTAAGAGATTTGATTACAAAAGTAAAATTGAGGCTTTTGTCTTTTTTTTTGGCCACTCTAATTTGCTGACTGACTTAACATTTGTCTTCACAGTAAACATTGTAAATAAACACTGATGTTTGTTGCGTAGTATGTAAAAATATTATTTAGGAGTGGTGAGATTTAAACATTTACAAACCTGTAATA... | pathogenic | 31,560 |
Gene mutation in SPAST (spastin) at chromosome 2, position 32114760—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_4'] | ACTTGTAGTAAAAGTAAACTGGTTGTCTAAATAAATAAGCTGATTTCCTATACTAGTTTAGAGTCTTTAGTTTTCTTAAACCGTATTAAGAGATTTGATTACAAAAGTAAAATTGAGGCTTTTGTCTTTTTTTTTGGCCACTCTAATTTGCTGACTGACTTAACATTTGTCTTCACAGTAAACATTGTAAATAAACACTGATGTTTGTTGCGTAGTATGTAAAAATATTATTTAGGAGTGGTGAGATTTAAACATTTACAAACCTGTAATATATATAGTACAGCAACACTGGACAAATAACCTTTTCAACTTAATCAGAG... | ACTTGTAGTAAAAGTAAACTGGTTGTCTAAATAAATAAGCTGATTTCCTATACTAGTTTAGAGTCTTTAGTTTTCTTAAACCGTATTAAGAGATTTGATTACAAAAGTAAAATTGAGGCTTTTGTCTTTTTTTTTGGCCACTCTAATTTGCTGACTGACTTAACATTTGTCTTCACAGTAAACATTGTAAATAAACACTGATGTTTGTTGCGTAGTATGTAAAAATATTATTTAGGAGTGGTGAGATTTAAACATTTACAAACCTGTAATATATATAGTACAGCAACACTGGACAAATAACCTTTTCAACTTAATCAGAG... | pathogenic | 31,562 |
Clinical significance of chromosome 2, position 32114793, gene SPAST (spastin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia_4'] | AATAAGCTGATTTCCTATACTAGTTTAGAGTCTTTAGTTTTCTTAAACCGTATTAAGAGATTTGATTACAAAAGTAAAATTGAGGCTTTTGTCTTTTTTTTTGGCCACTCTAATTTGCTGACTGACTTAACATTTGTCTTCACAGTAAACATTGTAAATAAACACTGATGTTTGTTGCGTAGTATGTAAAAATATTATTTAGGAGTGGTGAGATTTAAACATTTACAAACCTGTAATATATATAGTACAGCAACACTGGACAAATAACCTTTTCAACTTAATCAGAGGTGTTCTATAAATGTTCATTTGCATATATACAG... | AATAAGCTGATTTCCTATACTAGTTTAGAGTCTTTAGTTTTCTTAAACCGTATTAAGAGATTTGATTACAAAAGTAAAATTGAGGCTTTTGTCTTTTTTTTTGGCCACTCTAATTTGCTGACTGACTTAACATTTGTCTTCACAGTAAACATTGTAAATAAACACTGATGTTTGTTGCGTAGTATGTAAAAATATTATTTAGGAGTGGTGAGATTTAAACATTTACAAACCTGTAATATATATAGTACAGCAACACTGGACAAATAACCTTTTCAACTTAATCAGAGGTGTTCTATAAATGTTCATTTGCATATATACAG... | pathogenic | 31,566 |
Determine whether the variant at chromosome 2, position 32114820, in gene SPAST (spastin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_4'] | GAGTCTTTAGTTTTCTTAAACCGTATTAAGAGATTTGATTACAAAAGTAAAATTGAGGCTTTTGTCTTTTTTTTTGGCCACTCTAATTTGCTGACTGACTTAACATTTGTCTTCACAGTAAACATTGTAAATAAACACTGATGTTTGTTGCGTAGTATGTAAAAATATTATTTAGGAGTGGTGAGATTTAAACATTTACAAACCTGTAATATATATAGTACAGCAACACTGGACAAATAACCTTTTCAACTTAATCAGAGGTGTTCTATAAATGTTCATTTGCATATATACAGCCCATATAATACTTAGCATATGTAAAA... | GAGTCTTTAGTTTTCTTAAACCGTATTAAGAGATTTGATTACAAAAGTAAAATTGAGGCTTTTGTCTTTTTTTTTGGCCACTCTAATTTGCTGACTGACTTAACATTTGTCTTCACAGTAAACATTGTAAATAAACACTGATGTTTGTTGCGTAGTATGTAAAAATATTATTTAGGAGTGGTGAGATTTAAACATTTACAAACCTGTAATATATATAGTACAGCAACACTGGACAAATAACCTTTTCAACTTAATCAGAGGTGTTCTATAAATGTTCATTTGCATATATACAGCCCATATAATACTTAGCATATGTAAAA... | pathogenic | 31,569 |
Benign or pathogenic: chromosome 2, position 32115732, gene SPAST (spastin) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_4'] | GCCTCCGAAGTAGCTGGGATTATAGGCCCCCACCACCACGTCTGACTGATTTTTTGTATTTTTAGCAGAGACGAGGTTTCACCATGTTGGCCAGCCTGGTCTTGAACTACTGACATCAGGTGATCCGTCCACCTCGATCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGCCCGGCGCTTCATAACCTTTTTATATTGTCTTTCTGTTCCCCAAAATGAAGTAGTTTCTTCTTAAAAATACTGTTTTTTGTTTTTTTGTTTTTTTTTTTATTTGAGATGGAATCTCTCTCTGTCGCCAGGCTGGAGTGCAGTGG... | GCCTCCGAAGTAGCTGGGATTATAGGCCCCCACCACCACGTCTGACTGATTTTTTGTATTTTTAGCAGAGACGAGGTTTCACCATGTTGGCCAGCCTGGTCTTGAACTACTGACATCAGGTGATCCGTCCACCTCGATCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGCCCGGCGCTTCATAACCTTTTTATATTGTCTTTCTGTTCCCCAAAATGAAGTAGTTTCTTCTTAAAAATACTGTTTTTTGTTTTTTTGTTTTTTTTTTTATTTGAGATGGAATCTCTCTCTGTCGCCAGGCTGGAGTGCAGTGG... | pathogenic | 31,581 |
Benign or pathogenic: chromosome 2, position 32115738, gene SPAST (spastin) variant? Disease(s) if pathogenic? | pathogenic | GAAGTAGCTGGGATTATAGGCCCCCACCACCACGTCTGACTGATTTTTTGTATTTTTAGCAGAGACGAGGTTTCACCATGTTGGCCAGCCTGGTCTTGAACTACTGACATCAGGTGATCCGTCCACCTCGATCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGCCCGGCGCTTCATAACCTTTTTATATTGTCTTTCTGTTCCCCAAAATGAAGTAGTTTCTTCTTAAAAATACTGTTTTTTGTTTTTTTGTTTTTTTTTTTATTTGAGATGGAATCTCTCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGAT... | GAAGTAGCTGGGATTATAGGCCCCCACCACCACGTCTGACTGATTTTTTGTATTTTTAGCAGAGACGAGGTTTCACCATGTTGGCCAGCCTGGTCTTGAACTACTGACATCAGGTGATCCGTCCACCTCGATCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGCCCGGCGCTTCATAACCTTTTTATATTGTCTTTCTGTTCCCCAAAATGAAGTAGTTTCTTCTTAAAAATACTGTTTTTTGTTTTTTTGTTTTTTTTTTTATTTGAGATGGAATCTCTCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGAT... | pathogenic | 31,582 |
Gene SPAST (spastin) variant at chromosome 2, position 32115754—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_spastic_paraplegia_4'] | TAGGCCCCCACCACCACGTCTGACTGATTTTTTGTATTTTTAGCAGAGACGAGGTTTCACCATGTTGGCCAGCCTGGTCTTGAACTACTGACATCAGGTGATCCGTCCACCTCGATCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGCCCGGCGCTTCATAACCTTTTTATATTGTCTTTCTGTTCCCCAAAATGAAGTAGTTTCTTCTTAAAAATACTGTTTTTTGTTTTTTTGTTTTTTTTTTTATTTGAGATGGAATCTCTCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTTCAAC... | TAGGCCCCCACCACCACGTCTGACTGATTTTTTGTATTTTTAGCAGAGACGAGGTTTCACCATGTTGGCCAGCCTGGTCTTGAACTACTGACATCAGGTGATCCGTCCACCTCGATCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGCCCGGCGCTTCATAACCTTTTTATATTGTCTTTCTGTTCCCCAAAATGAAGTAGTTTCTTCTTAAAAATACTGTTTTTTGTTTTTTTGTTTTTTTTTTTATTTGAGATGGAATCTCTCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTTCAAC... | pathogenic | 31,583 |
The mutation impacting SPAST (spastin) on chromosome 2 at position 32115792: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia'] | TTTAGCAGAGACGAGGTTTCACCATGTTGGCCAGCCTGGTCTTGAACTACTGACATCAGGTGATCCGTCCACCTCGATCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGCCCGGCGCTTCATAACCTTTTTATATTGTCTTTCTGTTCCCCAAAATGAAGTAGTTTCTTCTTAAAAATACTGTTTTTTGTTTTTTTGTTTTTTTTTTTATTTGAGATGGAATCTCTCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTTCAACCTCTGACTCCGTGGTTCAAGCAATTCTCCTGCCTCAGC... | TTTAGCAGAGACGAGGTTTCACCATGTTGGCCAGCCTGGTCTTGAACTACTGACATCAGGTGATCCGTCCACCTCGATCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGCCCGGCGCTTCATAACCTTTTTATATTGTCTTTCTGTTCCCCAAAATGAAGTAGTTTCTTCTTAAAAATACTGTTTTTTGTTTTTTTGTTTTTTTTTTTATTTGAGATGGAATCTCTCTCTGTCGCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTTCAACCTCTGACTCCGTGGTTCAAGCAATTCTCCTGCCTCAGC... | pathogenic | 31,587 |
Is the variant located on chromosome 2 at position 32128413, gene SPAST (spastin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_spastic_paraplegia_4'] | GTATTTTTTGGTGGGATTTCTAAGTAGAGAAACATGCCTATGTTCAATATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCC... | GTATTTTTTGGTGGGATTTCTAAGTAGAGAAACATGCCTATGTTCAATATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCC... | pathogenic | 31,614 |
A genetic variant on chromosome 2, position 32128439, affects the gene SPAST (spastin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_spastic_paraplegia_4', 'Inborn_genetic_diseases'] | GAGAAACATGCCTATGTTCAATATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAAC... | GAGAAACATGCCTATGTTCAATATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAAC... | pathogenic | 31,616 |
Determine whether the variant at chromosome 2, position 32128440, in gene SPAST (spastin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_4'] | AGAAACATGCCTATGTTCAATATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAACT... | AGAAACATGCCTATGTTCAATATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAACT... | pathogenic | 31,617 |
Clinical significance of chromosome 2, position 32128442, gene SPAST (spastin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia_4'] | AAACATGCCTATGTTCAATATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAACTCT... | AAACATGCCTATGTTCAATATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAACTCT... | pathogenic | 31,618 |
Evaluate this variant at chromosome 2, position 32128443, gene SPAST (spastin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_spastic_paraplegia_4'] | AACATGCCTATGTTCAATATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAACTCTT... | AACATGCCTATGTTCAATATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAACTCTT... | pathogenic | 31,619 |
A mutation at chromosome position 32128445 on chromosome 2 in gene SPAST (spastin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_spastic_paraplegia_4'] | CATGCCTATGTTCAATATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAACTCTTGG... | CATGCCTATGTTCAATATGTCTTGTTTAAGCAGTCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAACTCTTGG... | pathogenic | 31,620 |
Variant at chromosome position 32128478, chromosome 2, gene SPAST (spastin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_spastic_paraplegia_4'] | TCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTCATGTAATCCTCCTGTCTTTGCCCCCTAAA... | TCTGCTTTCATTTTTACCACCGAGGAGTTGGTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTCAGCCAGGCTGGAGTACAGTGGCACAATCAAAGCTCACTGCACCCTTGGCCTCCCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAATAGCTGGGAGCTCAGGTGATCCAGCACACCCAGCTAATTTTTTTTTTTTTTAATTTTTTGTAGAAGCAGAGTTCCCCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTCATGTAATCCTCCTGTCTTTGCCCCCTAAA... | pathogenic | 31,625 |
Is the variant located on chromosome 2 at position 32136567, gene SPAST (spastin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_spastic_paraplegia_4'] | GTCTCAAACTTCTGGGCTCAAGTGATCCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAG... | GTCTCAAACTTCTGGGCTCAAGTGATCCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAG... | pathogenic | 31,630 |
Variant at chromosome position 32136911, chromosome 2, gene SPAST (spastin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_spastic_paraplegia_4'] | TTTTTGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGT... | TTTTTGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGT... | pathogenic | 31,640 |
Clinical classification of chromosome 2, position 32136915, gene SPAST (spastin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_4'] | TGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAG... | TGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAG... | pathogenic | 31,642 |
Chromosome 2, position 32136952, gene SPAST (spastin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_4'] | CAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTG... | CAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTG... | pathogenic | 31,647 |
Evaluate this variant at chromosome 2, position 32136966, gene SPAST (spastin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_spastic_paraplegia_4'] | ACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTC... | ACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTC... | pathogenic | 31,648 |
The mutation in gene SPAST (spastin) at chromosome 2, position 32136968—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_4'] | TCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTC... | TCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTC... | pathogenic | 31,649 |
Is the chromosome 2, position 32137129 variant in SPAST (spastin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_spastic_paraplegia_4'] | AGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGA... | AGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGA... | pathogenic | 31,657 |
A genetic alteration at chromosome 2, position 32137186, in gene SPAST (spastin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_4'] | GTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGCCCGGCCTAGAATATTTGTTTCGATTATTCTAAATC... | GTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGCCCGGCCTAGAATATTTGTTTCGATTATTCTAAATC... | pathogenic | 31,664 |
The genetic variant at chromosome 2, position 32143372, affecting gene SPAST (spastin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia_4'] | TAGGGTTTATATGGTCTGCAGAGCCAGGCTTCATATGCTTGTTTAAATGTGGAGGGACTGGCCTTATTACCCTTTAGGGTGTGCTATCTCTTTTTGGGAGGAAAACTGTACTCTGACAGTCATGTCCATGATCTTTAGCGGCAGATCCTTTGTGTGTCTTCCTTTGTCAGTGTAATTTTCACTGCCCTAGGCAGTTCACCTTTATGTATTTTAGTTCCATAAATGTTACCTAGTTTGTTGATGAAGTGTATGTTTCTGTTTCTATTATCCTTGCTGATTTTAGTTTTTTTCAGATTCAAGAAGACAGATCTACTTATATC... | TAGGGTTTATATGGTCTGCAGAGCCAGGCTTCATATGCTTGTTTAAATGTGGAGGGACTGGCCTTATTACCCTTTAGGGTGTGCTATCTCTTTTTGGGAGGAAAACTGTACTCTGACAGTCATGTCCATGATCTTTAGCGGCAGATCCTTTGTGTGTCTTCCTTTGTCAGTGTAATTTTCACTGCCCTAGGCAGTTCACCTTTATGTATTTTAGTTCCATAAATGTTACCTAGTTTGTTGATGAAGTGTATGTTTCTGTTTCTATTATCCTTGCTGATTTTAGTTTTTTTCAGATTCAAGAAGACAGATCTACTTATATC... | pathogenic | 31,682 |
Variant on chromosome 2, at position 32143399, affecting SPAST (spastin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_4'] | GCTTCATATGCTTGTTTAAATGTGGAGGGACTGGCCTTATTACCCTTTAGGGTGTGCTATCTCTTTTTGGGAGGAAAACTGTACTCTGACAGTCATGTCCATGATCTTTAGCGGCAGATCCTTTGTGTGTCTTCCTTTGTCAGTGTAATTTTCACTGCCCTAGGCAGTTCACCTTTATGTATTTTAGTTCCATAAATGTTACCTAGTTTGTTGATGAAGTGTATGTTTCTGTTTCTATTATCCTTGCTGATTTTAGTTTTTTTCAGATTCAAGAAGACAGATCTACTTATATCAGATATTTTGTTTGTTTTAAAGCATTA... | GCTTCATATGCTTGTTTAAATGTGGAGGGACTGGCCTTATTACCCTTTAGGGTGTGCTATCTCTTTTTGGGAGGAAAACTGTACTCTGACAGTCATGTCCATGATCTTTAGCGGCAGATCCTTTGTGTGTCTTCCTTTGTCAGTGTAATTTTCACTGCCCTAGGCAGTTCACCTTTATGTATTTTAGTTCCATAAATGTTACCTAGTTTGTTGATGAAGTGTATGTTTCTGTTTCTATTATCCTTGCTGATTTTAGTTTTTTTCAGATTCAAGAAGACAGATCTACTTATATCAGATATTTTGTTTGTTTTAAAGCATTA... | pathogenic | 31,685 |
Is the genetic mutation found on chromosome 2 at position 32154412, within the gene SPAST (spastin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_4'] | TCGAGACCAGCCTGGATAACATGGTGAAATCCTCATCTCTACAAAAATTACAAAAAGTTAGCTGGGCGTGGTGGCGCACACCTATAGTCCTAGCTACTTGGGAGGATCTCTTAAGCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTAACAGTGAGACCCTGTCTCAAAACAAAAATATTAATTTCTATAACAAATAAATTTTATTTAGTAATATCATGTTTAATACCCATGTTACATTCATTATTCTTCTACACTTTGGCCTTTAGGAAGAGGCAGTGTGTGTGTTACAGTTAA... | TCGAGACCAGCCTGGATAACATGGTGAAATCCTCATCTCTACAAAAATTACAAAAAGTTAGCTGGGCGTGGTGGCGCACACCTATAGTCCTAGCTACTTGGGAGGATCTCTTAAGCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTAACAGTGAGACCCTGTCTCAAAACAAAAATATTAATTTCTATAACAAATAAATTTTATTTAGTAATATCATGTTTAATACCCATGTTACATTCATTATTCTTCTACACTTTGGCCTTTAGGAAGAGGCAGTGTGTGTGTTACAGTTAA... | pathogenic | 31,705 |
Does the variant impacting SPAST (spastin) on chromosome 2, position 32154416, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_spastic_paraplegia_4'] | GACCAGCCTGGATAACATGGTGAAATCCTCATCTCTACAAAAATTACAAAAAGTTAGCTGGGCGTGGTGGCGCACACCTATAGTCCTAGCTACTTGGGAGGATCTCTTAAGCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTAACAGTGAGACCCTGTCTCAAAACAAAAATATTAATTTCTATAACAAATAAATTTTATTTAGTAATATCATGTTTAATACCCATGTTACATTCATTATTCTTCTACACTTTGGCCTTTAGGAAGAGGCAGTGTGTGTGTTACAGTTAAATAG... | GACCAGCCTGGATAACATGGTGAAATCCTCATCTCTACAAAAATTACAAAAAGTTAGCTGGGCGTGGTGGCGCACACCTATAGTCCTAGCTACTTGGGAGGATCTCTTAAGCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTAACAGTGAGACCCTGTCTCAAAACAAAAATATTAATTTCTATAACAAATAAATTTTATTTAGTAATATCATGTTTAATACCCATGTTACATTCATTATTCTTCTACACTTTGGCCTTTAGGAAGAGGCAGTGTGTGTGTTACAGTTAAATAG... | pathogenic | 31,706 |
Is the variant located on chromosome 2 at position 32154737, gene SPAST (spastin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AAACAAGTAGGGTTCATATAGTGCTTATGGGGTTTTCTTTGGTGGGGGGTTGCTGGGTTTTTGGGGTTTTTTTTTTTGAGACAGGGTATCACTCTGTCTCCCAGGCTGAAATACATTGGCATGCTCATGGCTCACTGCAGCCTCAACCTCCCAGACTCAAGTGATCCTCCCACCTCAGCTTCCCTAGTAGCTGAGACTACAGGCGTGCGCCACCATGCCTAGCTAAATTTTGTACATTTTGTAGAGATGAGGCTTTGCCATGTTGCCCAGGCTGGTCTCTAACTCCTGGGCTCAAGTGATCCACTTGCTTCAGCCTCCCA... | AAACAAGTAGGGTTCATATAGTGCTTATGGGGTTTTCTTTGGTGGGGGGTTGCTGGGTTTTTGGGGTTTTTTTTTTTGAGACAGGGTATCACTCTGTCTCCCAGGCTGAAATACATTGGCATGCTCATGGCTCACTGCAGCCTCAACCTCCCAGACTCAAGTGATCCTCCCACCTCAGCTTCCCTAGTAGCTGAGACTACAGGCGTGCGCCACCATGCCTAGCTAAATTTTGTACATTTTGTAGAGATGAGGCTTTGCCATGTTGCCCAGGCTGGTCTCTAACTCCTGGGCTCAAGTGATCCACTTGCTTCAGCCTCCCA... | benign | 31,711 |
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