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 |
|---|---|---|---|---|---|
Located at chromosome 4 position 113365201, the variant affecting gene ANK2 (ankyrin 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AAAAAATCCATAATTAGTACTAGAAGAACAAAGGCATATAAGAGTCACTTCTAATATGTAGAAATTAAGGAACTCAAATACTCACCACAATATAAAGAACACATCATTTACAAAATCACAAAGCAAAATGTAGAGACTGAAACCTTGAAGTTAATGTGTTTACAAAGTAGTATTTTATCTTCTAGAATTAGCAAGAGAACTGGATTTCACTGAGGAGCAAATTCATCAAATTCGAATTGAAAATCCCAACTCTCTTCAAGACCAGAGTCATGCACTGTTGAAGTACTGGCTAGAGAGGGATGGGAAACATGCTACAGGTA... | AAAAAATCCATAATTAGTACTAGAAGAACAAAGGCATATAAGAGTCACTTCTAATATGTAGAAATTAAGGAACTCAAATACTCACCACAATATAAAGAACACATCATTTACAAAATCACAAAGCAAAATGTAGAGACTGAAACCTTGAAGTTAATGTGTTTACAAAGTAGTATTTTATCTTCTAGAATTAGCAAGAGAACTGGATTTCACTGAGGAGCAAATTCATCAAATTCGAATTGAAAATCCCAACTCTCTTCAAGACCAGAGTCATGCACTGTTGAAGTACTGGCTAGAGAGGGATGGGAAACATGCTACAGGTA... | benign | 85,707 |
Considering the variant on chromosome 4, location 113365201, involving gene ANK2 (ankyrin 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AAAAAATCCATAATTAGTACTAGAAGAACAAAGGCATATAAGAGTCACTTCTAATATGTAGAAATTAAGGAACTCAAATACTCACCACAATATAAAGAACACATCATTTACAAAATCACAAAGCAAAATGTAGAGACTGAAACCTTGAAGTTAATGTGTTTACAAAGTAGTATTTTATCTTCTAGAATTAGCAAGAGAACTGGATTTCACTGAGGAGCAAATTCATCAAATTCGAATTGAAAATCCCAACTCTCTTCAAGACCAGAGTCATGCACTGTTGAAGTACTGGCTAGAGAGGGATGGGAAACATGCTACAGGTA... | AAAAAATCCATAATTAGTACTAGAAGAACAAAGGCATATAAGAGTCACTTCTAATATGTAGAAATTAAGGAACTCAAATACTCACCACAATATAAAGAACACATCATTTACAAAATCACAAAGCAAAATGTAGAGACTGAAACCTTGAAGTTAATGTGTTTACAAAGTAGTATTTTATCTTCTAGAATTAGCAAGAGAACTGGATTTCACTGAGGAGCAAATTCATCAAATTCGAATTGAAAATCCCAACTCTCTTCAAGACCAGAGTCATGCACTGTTGAAGTACTGGCTAGAGAGGGATGGGAAACATGCTACAGGTA... | benign | 85,708 |
Gene mutation in ANK2 (ankyrin 2) at chromosome 4, position 113365201—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AAAAAATCCATAATTAGTACTAGAAGAACAAAGGCATATAAGAGTCACTTCTAATATGTAGAAATTAAGGAACTCAAATACTCACCACAATATAAAGAACACATCATTTACAAAATCACAAAGCAAAATGTAGAGACTGAAACCTTGAAGTTAATGTGTTTACAAAGTAGTATTTTATCTTCTAGAATTAGCAAGAGAACTGGATTTCACTGAGGAGCAAATTCATCAAATTCGAATTGAAAATCCCAACTCTCTTCAAGACCAGAGTCATGCACTGTTGAAGTACTGGCTAGAGAGGGATGGGAAACATGCTACAGGTA... | AAAAAATCCATAATTAGTACTAGAAGAACAAAGGCATATAAGAGTCACTTCTAATATGTAGAAATTAAGGAACTCAAATACTCACCACAATATAAAGAACACATCATTTACAAAATCACAAAGCAAAATGTAGAGACTGAAACCTTGAAGTTAATGTGTTTACAAAGTAGTATTTTATCTTCTAGAATTAGCAAGAGAACTGGATTTCACTGAGGAGCAAATTCATCAAATTCGAATTGAAAATCCCAACTCTCTTCAAGACCAGAGTCATGCACTGTTGAAGTACTGGCTAGAGAGGGATGGGAAACATGCTACAGGTA... | benign | 85,709 |
A genetic alteration at chromosome 4, position 113365201, in gene ANK2 (ankyrin 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AAAAAATCCATAATTAGTACTAGAAGAACAAAGGCATATAAGAGTCACTTCTAATATGTAGAAATTAAGGAACTCAAATACTCACCACAATATAAAGAACACATCATTTACAAAATCACAAAGCAAAATGTAGAGACTGAAACCTTGAAGTTAATGTGTTTACAAAGTAGTATTTTATCTTCTAGAATTAGCAAGAGAACTGGATTTCACTGAGGAGCAAATTCATCAAATTCGAATTGAAAATCCCAACTCTCTTCAAGACCAGAGTCATGCACTGTTGAAGTACTGGCTAGAGAGGGATGGGAAACATGCTACAGGTA... | AAAAAATCCATAATTAGTACTAGAAGAACAAAGGCATATAAGAGTCACTTCTAATATGTAGAAATTAAGGAACTCAAATACTCACCACAATATAAAGAACACATCATTTACAAAATCACAAAGCAAAATGTAGAGACTGAAACCTTGAAGTTAATGTGTTTACAAAGTAGTATTTTATCTTCTAGAATTAGCAAGAGAACTGGATTTCACTGAGGAGCAAATTCATCAAATTCGAATTGAAAATCCCAACTCTCTTCAAGACCAGAGTCATGCACTGTTGAAGTACTGGCTAGAGAGGGATGGGAAACATGCTACAGGTA... | benign | 85,711 |
Located at chromosome 4 position 113365201, the variant affecting gene ANK2 (ankyrin 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AAAAAATCCATAATTAGTACTAGAAGAACAAAGGCATATAAGAGTCACTTCTAATATGTAGAAATTAAGGAACTCAAATACTCACCACAATATAAAGAACACATCATTTACAAAATCACAAAGCAAAATGTAGAGACTGAAACCTTGAAGTTAATGTGTTTACAAAGTAGTATTTTATCTTCTAGAATTAGCAAGAGAACTGGATTTCACTGAGGAGCAAATTCATCAAATTCGAATTGAAAATCCCAACTCTCTTCAAGACCAGAGTCATGCACTGTTGAAGTACTGGCTAGAGAGGGATGGGAAACATGCTACAGGTA... | AAAAAATCCATAATTAGTACTAGAAGAACAAAGGCATATAAGAGTCACTTCTAATATGTAGAAATTAAGGAACTCAAATACTCACCACAATATAAAGAACACATCATTTACAAAATCACAAAGCAAAATGTAGAGACTGAAACCTTGAAGTTAATGTGTTTACAAAGTAGTATTTTATCTTCTAGAATTAGCAAGAGAACTGGATTTCACTGAGGAGCAAATTCATCAAATTCGAATTGAAAATCCCAACTCTCTTCAAGACCAGAGTCATGCACTGTTGAAGTACTGGCTAGAGAGGGATGGGAAACATGCTACAGGTA... | benign | 85,712 |
Is the genetic variant on chromosome 4, position 113365201, gene ANK2 (ankyrin 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AAAAAATCCATAATTAGTACTAGAAGAACAAAGGCATATAAGAGTCACTTCTAATATGTAGAAATTAAGGAACTCAAATACTCACCACAATATAAAGAACACATCATTTACAAAATCACAAAGCAAAATGTAGAGACTGAAACCTTGAAGTTAATGTGTTTACAAAGTAGTATTTTATCTTCTAGAATTAGCAAGAGAACTGGATTTCACTGAGGAGCAAATTCATCAAATTCGAATTGAAAATCCCAACTCTCTTCAAGACCAGAGTCATGCACTGTTGAAGTACTGGCTAGAGAGGGATGGGAAACATGCTACAGGTA... | AAAAAATCCATAATTAGTACTAGAAGAACAAAGGCATATAAGAGTCACTTCTAATATGTAGAAATTAAGGAACTCAAATACTCACCACAATATAAAGAACACATCATTTACAAAATCACAAAGCAAAATGTAGAGACTGAAACCTTGAAGTTAATGTGTTTACAAAGTAGTATTTTATCTTCTAGAATTAGCAAGAGAACTGGATTTCACTGAGGAGCAAATTCATCAAATTCGAATTGAAAATCCCAACTCTCTTCAAGACCAGAGTCATGCACTGTTGAAGTACTGGCTAGAGAGGGATGGGAAACATGCTACAGGTA... | benign | 85,713 |
Is the genetic change at chromosome 4, position 113373278, within gene ANK2 (ankyrin 2) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGAATTATCTGAAATCACAACTAAAATTAGGAAAGATCCAGGCAGATGAGAACTGTGTCCTGATTTTGGCAGTTTTCTTAAATAATAAATTCATGCCATGAATGAATTTTTATTCCAAGTTTGCTTTTGCATAGAATTATTCATCTCTCAAATTCTTGGCTTGAATGAGTACTACTAAAAATGTTTCTTACATGTTATCTAGGCTAAAAGTTACCAAATTTAACCTAAGAATCCATAGGCTTAGTGAAGTTAGACTTGAAACAATTATCTGGATAATACATATGTTTAATCTATACTAAAGGAATATGTTTGTATAAGTC... | GGAATTATCTGAAATCACAACTAAAATTAGGAAAGATCCAGGCAGATGAGAACTGTGTCCTGATTTTGGCAGTTTTCTTAAATAATAAATTCATGCCATGAATGAATTTTTATTCCAAGTTTGCTTTTGCATAGAATTATTCATCTCTCAAATTCTTGGCTTGAATGAGTACTACTAAAAATGTTTCTTACATGTTATCTAGGCTAAAAGTTACCAAATTTAACCTAAGAATCCATAGGCTTAGTGAAGTTAGACTTGAAACAATTATCTGGATAATACATATGTTTAATCTATACTAAAGGAATATGTTTGTATAAGTC... | benign | 85,748 |
Does the chromosome 4 mutation at position 119135991 within gene MYOZ2 (myozenin 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TGCCAAACCTTTAATGCATTCTGCAGTTAATCTCCAACCTACTCATTTATTCATTCATTCAATGAATATTGAGTGCTTACCATATGCCAGATACAATTCCAACTGCTGAAGATACAAAGCCCAAGCCATTATAGGATTCATAGTTTAGTAGAAAAAAGAGATATCACATAAATAGATGCAACCTCTACCTCCTGGACTCAAGCAATCTTCCCACCCCAGCCTTCAGAGTAGCTGGGATTACAGGTGCTAGTAAAACTGTTGAGGACGCCATTTCAACCTTTAGAATTGTACATAACATAAACTTTTGCTAGATAGATAGA... | TGCCAAACCTTTAATGCATTCTGCAGTTAATCTCCAACCTACTCATTTATTCATTCATTCAATGAATATTGAGTGCTTACCATATGCCAGATACAATTCCAACTGCTGAAGATACAAAGCCCAAGCCATTATAGGATTCATAGTTTAGTAGAAAAAAGAGATATCACATAAATAGATGCAACCTCTACCTCCTGGACTCAAGCAATCTTCCCACCCCAGCCTTCAGAGTAGCTGGGATTACAGGTGCTAGTAAAACTGTTGAGGACGCCATTTCAACCTTTAGAATTGTACATAACATAAACTTTTGCTAGATAGATAGA... | benign | 85,858 |
Does the genetic variant at chromosome 4, position 119136516, impacting gene MYOZ2 (myozenin 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GTTCTGCCCAATGGGATGTAAACAGAAGTATGAACAAAATATCAGACATGTTCTGAAAAGAAGACAGTGTTCCCTTCTCATTTTTTTTTCTTTTTCCTGCTGGTTGAAATATATGCATGCTGACTGGAGCTGGGGCAGCCAATTAGGCCCAAGGGGTCTGCATTTTAGGGATAGTGGAGCAAAAAGTTAGAGGGTAACTGAGCCCTTGATAATTATGTCAGTCATGCAAACCCTCAATTACTTACTTCTAGACTAAGCTTACCTGTGAGAGAAACATCTTCCATCTTTTTACAGTTCTGTTTTGGGGGGGTTTCTGTCAC... | GTTCTGCCCAATGGGATGTAAACAGAAGTATGAACAAAATATCAGACATGTTCTGAAAAGAAGACAGTGTTCCCTTCTCATTTTTTTTTCTTTTTCCTGCTGGTTGAAATATATGCATGCTGACTGGAGCTGGGGCAGCCAATTAGGCCCAAGGGGTCTGCATTTTAGGGATAGTGGAGCAAAAAGTTAGAGGGTAACTGAGCCCTTGATAATTATGTCAGTCATGCAAACCCTCAATTACTTACTTCTAGACTAAGCTTACCTGTGAGAGAAACATCTTCCATCTTTTTACAGTTCTGTTTTGGGGGGGTTTCTGTCAC... | benign | 85,861 |
Is the genetic variant on chromosome 4, position 119150863, gene MYOZ2 (myozenin 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TTTCCTAACTGCTTTCTGAAGCATTGTTTTAAATTATGGGTACTTTAAAATATTTGTCAGATAGTTTTAATATCTCAGTCATCCCAGTGTTGGCATTTGATTTTTTTTTTAATTTTTCATTCAGTTTGAGATTTTTCTAGTTCTTTGTATAAGTGATTTTCATAATATATATAAGTGATTTTCAATTTAAGCCTGGACATTTTCACATTATGTTCTGAGATGCTTGCTCTTTAAATAAACCTTCTTTTTCATCTGTTCTTATCTGACACTGCTCCAGCAGGAGTGCCAACTCATTACTGCAGGTGAATGTAGAAGTCTGG... | TTTCCTAACTGCTTTCTGAAGCATTGTTTTAAATTATGGGTACTTTAAAATATTTGTCAGATAGTTTTAATATCTCAGTCATCCCAGTGTTGGCATTTGATTTTTTTTTTAATTTTTCATTCAGTTTGAGATTTTTCTAGTTCTTTGTATAAGTGATTTTCATAATATATATAAGTGATTTTCAATTTAAGCCTGGACATTTTCACATTATGTTCTGAGATGCTTGCTCTTTAAATAAACCTTCTTTTTCATCTGTTCTTATCTGACACTGCTCCAGCAGGAGTGCCAACTCATTACTGCAGGTGAATGTAGAAGTCTGG... | benign | 85,869 |
Clinical classification of chromosome 4, position 119319647, gene FABP2 (fatty acid binding protein 2): benign or pathogenic? Disease(s) if pathogenic? | benign | ACCACTTAGAACAGTGTGTGGCAAGTAGTAAGAACTATGTAAATGTTAAGCTGTTATCTACATCAGTGTGAAAAAGAATTTGTCAAAAGTCTATAGAGTTGCAGCTGCAAATGCTTAAAAATTGTACCCCCTCTCCATCCCCTAATATGTACCCTGCTAAAATACAATTATGTGAAGCACATAAAATTTTACGTCATGTGAAAATATGAATAAAAGGAAACTTTTTGAGCCCTGGAAAATTGGCAATGTATGTGTTTATGTGAAAAAACCCACAACAACAAAAAAGAAGGGGGTGGTTAAAAATAACATTGATAACTGAT... | ACCACTTAGAACAGTGTGTGGCAAGTAGTAAGAACTATGTAAATGTTAAGCTGTTATCTACATCAGTGTGAAAAAGAATTTGTCAAAAGTCTATAGAGTTGCAGCTGCAAATGCTTAAAAATTGTACCCCCTCTCCATCCCCTAATATGTACCCTGCTAAAATACAATTATGTGAAGCACATAAAATTTTACGTCATGTGAAAATATGAATAAAAGGAAACTTTTTGAGCCCTGGAAAATTGGCAATGTATGTGTTTATGTGAAAAAACCCACAACAACAAAAAAGAAGGGGGTGGTTAAAAATAACATTGATAACTGAT... | benign | 85,919 |
The chromosome 4, position 120777211 genetic variant in gene PRDM5 (PR/SET domain 5): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Brittle_cornea_syndrome_2'] | TGTATACAATAAATAACCAAATGATACATAAAGTGATTTGGAGTGTAGAATACACTTTAAATTATACATAATATAGAACATAAGACAACAAAAACCATGACATATATTTAATAATTTTATCAGAGAGAATTCTTGGAACTCTAAAAATCCTCTTATTATTGTAATTTTATGGAGGATAATACTAATTAAAATTTTAGAAGCAATTACTAGTGTAAGTGCTTTATTCTTCTCCACTGCCTAGCCATACTATGAGTAAAATAAAATGTAGGCATACAATATCCTCAAGGATGGAATTATTTTGAATAATCAAGGGTTCTACT... | TGTATACAATAAATAACCAAATGATACATAAAGTGATTTGGAGTGTAGAATACACTTTAAATTATACATAATATAGAACATAAGACAACAAAAACCATGACATATATTTAATAATTTTATCAGAGAGAATTCTTGGAACTCTAAAAATCCTCTTATTATTGTAATTTTATGGAGGATAATACTAATTAAAATTTTAGAAGCAATTACTAGTGTAAGTGCTTTATTCTTCTCCACTGCCTAGCCATACTATGAGTAAAATAAAATGTAGGCATACAATATCCTCAAGGATGGAATTATTTTGAATAATCAAGGGTTCTACT... | pathogenic | 85,946 |
Mutation found at chromosome 4 position 120798429, gene PRDM5 (PR/SET domain 5): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CAAGACATCATTATTACTTTTATATGATTTATGGCTTAAAGTATGAGAGATGGTGCAAAGATCCTGTGCCAAATTCCCATATGGCATATAACATGAGCCAAACTGTGAAAAACTCATAAATGTGGATAGATCAGTTTCATCAGAGAAAGGAATAAGAGGGTTCCAGAGACTAAACAGGAACTAGCCAGATAATTTTTTACAGTCACGTAATTCCAAAGCAGCAGTAATGAACGCAGTCCTGCCCCGAATGTACAATGCTTGAGGTAAACATAAAGATGGTAAGGAAGAAATTAGGCAGAGACGATTTAAGACACTATAAT... | CAAGACATCATTATTACTTTTATATGATTTATGGCTTAAAGTATGAGAGATGGTGCAAAGATCCTGTGCCAAATTCCCATATGGCATATAACATGAGCCAAACTGTGAAAAACTCATAAATGTGGATAGATCAGTTTCATCAGAGAAAGGAATAAGAGGGTTCCAGAGACTAAACAGGAACTAGCCAGATAATTTTTTACAGTCACGTAATTCCAAAGCAGCAGTAATGAACGCAGTCCTGCCCCGAATGTACAATGCTTGAGGTAAACATAAAGATGGTAAGGAAGAAATTAGGCAGAGACGATTTAAGACACTATAAT... | benign | 85,978 |
Gene PRDM5 (PR/SET domain 5) variant at chromosome 4, position 120799716—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Brittle_cornea_syndrome_2', 'Ehlers-Danlos_syndrome'] | CATGCTGAATTCATTATGTCGAAAAGATGCCCAGTTATAAATGTGAGTCTGAAACTTGGGATTAAAGAAAATAAATCATTTGGAATTCATCAGTATGGTGTTGATAGCAGAAGTCATGGATGTAGTTGACATTTCTTAAGGAGAGAGAACACAGAAGAGGTTCACAGGCAAAGGATCCAGAATAACCTCCTGAGGGGAAAGGAAGTCAAAAATGTTCAGAGAAATTGGCAGAAGACCTAGCAGAGCATACTACAAGGATCCCAAGGATGAAGAGAATTTCAAAAAGCTAACGTAAATAAAAACATCAAAGTTTATGGAAA... | CATGCTGAATTCATTATGTCGAAAAGATGCCCAGTTATAAATGTGAGTCTGAAACTTGGGATTAAAGAAAATAAATCATTTGGAATTCATCAGTATGGTGTTGATAGCAGAAGTCATGGATGTAGTTGACATTTCTTAAGGAGAGAGAACACAGAAGAGGTTCACAGGCAAAGGATCCAGAATAACCTCCTGAGGGGAAAGGAAGTCAAAAATGTTCAGAGAAATTGGCAGAAGACCTAGCAGAGCATACTACAAGGATCCCAAGGATGAAGAGAATTTCAAAAAGCTAACGTAAATAAAAACATCAAAGTTTATGGAAA... | pathogenic | 85,982 |
Is the genetic mutation found on chromosome 4 at position 120799749, within the gene PRDM5 (PR/SET domain 5), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTTATAAATGTGAGTCTGAAACTTGGGATTAAAGAAAATAAATCATTTGGAATTCATCAGTATGGTGTTGATAGCAGAAGTCATGGATGTAGTTGACATTTCTTAAGGAGAGAGAACACAGAAGAGGTTCACAGGCAAAGGATCCAGAATAACCTCCTGAGGGGAAAGGAAGTCAAAAATGTTCAGAGAAATTGGCAGAAGACCTAGCAGAGCATACTACAAGGATCCCAAGGATGAAGAGAATTTCAAAAAGCTAACGTAAATAAAAACATCAAAGTTTATGGAAAGAAGGAAGAGAATAAAGACTTCACAATTAGTAA... | GTTATAAATGTGAGTCTGAAACTTGGGATTAAAGAAAATAAATCATTTGGAATTCATCAGTATGGTGTTGATAGCAGAAGTCATGGATGTAGTTGACATTTCTTAAGGAGAGAGAACACAGAAGAGGTTCACAGGCAAAGGATCCAGAATAACCTCCTGAGGGGAAAGGAAGTCAAAAATGTTCAGAGAAATTGGCAGAAGACCTAGCAGAGCATACTACAAGGATCCCAAGGATGAAGAGAATTTCAAAAAGCTAACGTAAATAAAAACATCAAAGTTTATGGAAAGAAGGAAGAGAATAAAGACTTCACAATTAGTAA... | benign | 85,985 |
Regarding the variant at chromosome 4 and position 120799761, affecting gene PRDM5 (PR/SET domain 5): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AGTCTGAAACTTGGGATTAAAGAAAATAAATCATTTGGAATTCATCAGTATGGTGTTGATAGCAGAAGTCATGGATGTAGTTGACATTTCTTAAGGAGAGAGAACACAGAAGAGGTTCACAGGCAAAGGATCCAGAATAACCTCCTGAGGGGAAAGGAAGTCAAAAATGTTCAGAGAAATTGGCAGAAGACCTAGCAGAGCATACTACAAGGATCCCAAGGATGAAGAGAATTTCAAAAAGCTAACGTAAATAAAAACATCAAAGTTTATGGAAAGAAGGAAGAGAATAAAGACTTCACAATTAGTAAACCCCATAAAAT... | AGTCTGAAACTTGGGATTAAAGAAAATAAATCATTTGGAATTCATCAGTATGGTGTTGATAGCAGAAGTCATGGATGTAGTTGACATTTCTTAAGGAGAGAGAACACAGAAGAGGTTCACAGGCAAAGGATCCAGAATAACCTCCTGAGGGGAAAGGAAGTCAAAAATGTTCAGAGAAATTGGCAGAAGACCTAGCAGAGCATACTACAAGGATCCCAAGGATGAAGAGAATTTCAAAAAGCTAACGTAAATAAAAACATCAAAGTTTATGGAAAGAAGGAAGAGAATAAAGACTTCACAATTAGTAAACCCCATAAAAT... | benign | 85,986 |
Mutation at chromosome 4, position 120816943, within PRDM5 (PR/SET domain 5): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TATATAAAACAAGATTTCCTTTTATGAATTATTTCCTACAAAATCACCATAAATTTCCAGAATTAATAATATTACAATATGCAAGGCCAACTACAAGAAGCCTCAAAGACATTGTGCTTATAGCACAGCCTGAAGACAACATGCCCAGTAATAAGAATGCAAGTCTCCAGAGTTTCGTATGCATCTGGTTTTTTACTTAGTTCAGCAAACTTAAGCTTTAAAACTGACATGAAAGTTCTATTACAATATATTGCAGACATAGATGAAGAAAATTAAGAATAGCATTTTAACTAGAACAGCATTGAAAATCAAAAAACTAC... | TATATAAAACAAGATTTCCTTTTATGAATTATTTCCTACAAAATCACCATAAATTTCCAGAATTAATAATATTACAATATGCAAGGCCAACTACAAGAAGCCTCAAAGACATTGTGCTTATAGCACAGCCTGAAGACAACATGCCCAGTAATAAGAATGCAAGTCTCCAGAGTTTCGTATGCATCTGGTTTTTTACTTAGTTCAGCAAACTTAAGCTTTAAAACTGACATGAAAGTTCTATTACAATATATTGCAGACATAGATGAAGAAAATTAAGAATAGCATTTTAACTAGAACAGCATTGAAAATCAAAAAACTAC... | benign | 86,009 |
A genetic variant at chromosome 4, position 121816363, affecting gene EXOSC9 (exosome component 9)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TATTGTGGCTAGCTGCAATACTAATGCTACTTTCTAAAAGAATATGCATATCTTTGTAGAGTAGTGGAACACTGGCATAAATGATAGTGATATTTTTAATTAAAAAAATTTTGTGTGTGTGTATGTATGTGGGTGGGTTTTAAGGGAATGAGTTTCTTGAAGATCTTATTCCTCCCTGCTGTCTTTTTTTTTGTAGTTTCTAGACTGAAACAAAAAGCCCATCCCATATCATAACATATAATACTGCCTAAATAAAACTTTCTATGATGATAGAAACATTAAGTATCTACACTGGTATAGCAGCCACTAGCCCCACATGG... | TATTGTGGCTAGCTGCAATACTAATGCTACTTTCTAAAAGAATATGCATATCTTTGTAGAGTAGTGGAACACTGGCATAAATGATAGTGATATTTTTAATTAAAAAAATTTTGTGTGTGTGTATGTATGTGGGTGGGTTTTAAGGGAATGAGTTTCTTGAAGATCTTATTCCTCCCTGCTGTCTTTTTTTTTGTAGTTTCTAGACTGAAACAAAAAGCCCATCCCATATCATAACATATAATACTGCCTAAATAAAACTTTCTATGATGATAGAAACATTAAGTATCTACACTGGTATAGCAGCCACTAGCCCCACATGG... | benign | 86,069 |
Assess the variant on chromosome 4, position 121828172, impacting BBS7 (Bardet-Biedl syndrome 7): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['BBS7-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_7'] | AAAAGCCATGTTTTTAAAAATAGTCATTTTGGGGGGATTTTAAAACAAGTTTCAAGATATAAATCATCTGCCTAATAACCCTCTTAACAATTGATTACAAGCTATTAATTCAGACAATCAACTACTGGCCATTTTTGAACTGCTATCAGTATATATAACATCACAACAAGTGGTATATTTTTTCCACCAAGCTGACCATTTTGACATAGTCTAGGCAGATTCTATTTTTAACAGCTTATCTGAATTAAAATATTCCACCTATATGTTGACCATTCTTGGGATTTGACTTGAAGGCAAATAGTCCTAGGTTCAAAGATCTG... | AAAAGCCATGTTTTTAAAAATAGTCATTTTGGGGGGATTTTAAAACAAGTTTCAAGATATAAATCATCTGCCTAATAACCCTCTTAACAATTGATTACAAGCTATTAATTCAGACAATCAACTACTGGCCATTTTTGAACTGCTATCAGTATATATAACATCACAACAAGTGGTATATTTTTTCCACCAAGCTGACCATTTTGACATAGTCTAGGCAGATTCTATTTTTAACAGCTTATCTGAATTAAAATATTCCACCTATATGTTGACCATTCTTGGGATTTGACTTGAAGGCAAATAGTCCTAGGTTCAAAGATCTG... | pathogenic | 86,083 |
A mutation at chromosome position 121828192 on chromosome 4 in gene BBS7 (Bardet-Biedl syndrome 7): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['BBS7-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_7', 'Optic_atrophy'] | TAGTCATTTTGGGGGGATTTTAAAACAAGTTTCAAGATATAAATCATCTGCCTAATAACCCTCTTAACAATTGATTACAAGCTATTAATTCAGACAATCAACTACTGGCCATTTTTGAACTGCTATCAGTATATATAACATCACAACAAGTGGTATATTTTTTCCACCAAGCTGACCATTTTGACATAGTCTAGGCAGATTCTATTTTTAACAGCTTATCTGAATTAAAATATTCCACCTATATGTTGACCATTCTTGGGATTTGACTTGAAGGCAAATAGTCCTAGGTTCAAAGATCTGGGCAAATCATTTCACCTTGA... | TAGTCATTTTGGGGGGATTTTAAAACAAGTTTCAAGATATAAATCATCTGCCTAATAACCCTCTTAACAATTGATTACAAGCTATTAATTCAGACAATCAACTACTGGCCATTTTTGAACTGCTATCAGTATATATAACATCACAACAAGTGGTATATTTTTTCCACCAAGCTGACCATTTTGACATAGTCTAGGCAGATTCTATTTTTAACAGCTTATCTGAATTAAAATATTCCACCTATATGTTGACCATTCTTGGGATTTGACTTGAAGGCAAATAGTCCTAGGTTCAAAGATCTGGGCAAATCATTTCACCTTGA... | pathogenic | 86,084 |
Considering the genetic mutation at chromosome 4, position 121828692, impacting BBS7 (Bardet-Biedl syndrome 7): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_7', 'Retinal_dystrophy'] | GGCACAAAATATACGGATGAATATTTGCACTAAGTGGAATAAAAAAGATATAACCTTGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAAGTCAGGGGTTGGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAAATTAGCTGGGCATGGTGGCGCACACCTGTAATCGCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGGGGCAGAGGCTGCAGTAAGCCGAGATCGCGCCACTGACTCCAGCCTGGGAGA... | GGCACAAAATATACGGATGAATATTTGCACTAAGTGGAATAAAAAAGATATAACCTTGGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAAGTCAGGGGTTGGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAAAATTAGCTGGGCATGGTGGCGCACACCTGTAATCGCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGGGGCAGAGGCTGCAGTAAGCCGAGATCGCGCCACTGACTCCAGCCTGGGAGA... | pathogenic | 86,091 |
A mutation at chromosome position 121833252 on chromosome 4 in gene BBS7 (Bardet-Biedl syndrome 7): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_7'] | AAAAAAAGAATAAAATAAAAAATAAAAAATTATTATATACTTTAAGCAGATAACAATAAATATCACAGACAAGTAAGAAAAAATGCTATGGAAACAGAGAAGAGAATCAAGGGAGAATCAAAGAAGGCTTCAAAAATGTAGCTACTGCAGGATGCAGTAGCTTGCACCTATAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTTGAAGCCAGGAGTTTGAGACCAGCTTGGGCAACACAGTGAGACTCTCTTAAAAAAAAAAAAGTAGCTATTAAGTTGGACCTTAAAGGATAAACAGTTTTGAATCTTAAGA... | AAAAAAAGAATAAAATAAAAAATAAAAAATTATTATATACTTTAAGCAGATAACAATAAATATCACAGACAAGTAAGAAAAAATGCTATGGAAACAGAGAAGAGAATCAAGGGAGAATCAAAGAAGGCTTCAAAAATGTAGCTACTGCAGGATGCAGTAGCTTGCACCTATAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTTGAAGCCAGGAGTTTGAGACCAGCTTGGGCAACACAGTGAGACTCTCTTAAAAAAAAAAAAGTAGCTATTAAGTTGGACCTTAAAGGATAAACAGTTTTGAATCTTAAGA... | pathogenic | 86,095 |
Clinical classification of chromosome 4, position 121833309, gene BBS7 (Bardet-Biedl syndrome 7): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_7'] | AAATATCACAGACAAGTAAGAAAAAATGCTATGGAAACAGAGAAGAGAATCAAGGGAGAATCAAAGAAGGCTTCAAAAATGTAGCTACTGCAGGATGCAGTAGCTTGCACCTATAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTTGAAGCCAGGAGTTTGAGACCAGCTTGGGCAACACAGTGAGACTCTCTTAAAAAAAAAAAAGTAGCTATTAAGTTGGACCTTAAAGGATAAACAGTTTTGAATCTTAAGAAAAAATACTCAAAGACACAGAATGATAAAAGAGCAAAGGTCTGCTATTATAAAAGTA... | AAATATCACAGACAAGTAAGAAAAAATGCTATGGAAACAGAGAAGAGAATCAAGGGAGAATCAAAGAAGGCTTCAAAAATGTAGCTACTGCAGGATGCAGTAGCTTGCACCTATAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTTGAAGCCAGGAGTTTGAGACCAGCTTGGGCAACACAGTGAGACTCTCTTAAAAAAAAAAAAGTAGCTATTAAGTTGGACCTTAAAGGATAAACAGTTTTGAATCTTAAGAAAAAATACTCAAAGACACAGAATGATAAAAGAGCAAAGGTCTGCTATTATAAAAGTA... | pathogenic | 86,096 |
Clinical classification of chromosome 4, position 121833327, gene BBS7 (Bardet-Biedl syndrome 7): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_7', 'Retinal_dystrophy'] | AGAAAAAATGCTATGGAAACAGAGAAGAGAATCAAGGGAGAATCAAAGAAGGCTTCAAAAATGTAGCTACTGCAGGATGCAGTAGCTTGCACCTATAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTTGAAGCCAGGAGTTTGAGACCAGCTTGGGCAACACAGTGAGACTCTCTTAAAAAAAAAAAAGTAGCTATTAAGTTGGACCTTAAAGGATAAACAGTTTTGAATCTTAAGAAAAAATACTCAAAGACACAGAATGATAAAAGAGCAAAGGTCTGCTATTATAAAAGTATATAATATGCTAGGGGCA... | AGAAAAAATGCTATGGAAACAGAGAAGAGAATCAAGGGAGAATCAAAGAAGGCTTCAAAAATGTAGCTACTGCAGGATGCAGTAGCTTGCACCTATAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTTGAAGCCAGGAGTTTGAGACCAGCTTGGGCAACACAGTGAGACTCTCTTAAAAAAAAAAAAGTAGCTATTAAGTTGGACCTTAAAGGATAAACAGTTTTGAATCTTAAGAAAAAATACTCAAAGACACAGAATGATAAAAGAGCAAAGGTCTGCTATTATAAAAGTATATAATATGCTAGGGGCA... | pathogenic | 86,097 |
Does the genetic variant at chromosome 4, position 121839693, impacting gene BBS7 (Bardet-Biedl syndrome 7), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['BBS7-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_7'] | GCTTGGAAATATCCTCCATTATTTTTATTATGGTAGTTTTATGGTATGTTTTATCATATGGCAAAGCAAGTTCCACCTTACTTTTCTTCTTTTTCATAATTTTCTTGGCTCTTTTCAGGCATTTTGTCTTTCTTCTATACATTAAAATTAGTATATCCAATTAAAAAAAGAGGAAGACGGTTGGGCGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCAACTGAGGTCAGGAGTTCGAGACCAACCTGTCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAATTAGCCAGGC... | GCTTGGAAATATCCTCCATTATTTTTATTATGGTAGTTTTATGGTATGTTTTATCATATGGCAAAGCAAGTTCCACCTTACTTTTCTTCTTTTTCATAATTTTCTTGGCTCTTTTCAGGCATTTTGTCTTTCTTCTATACATTAAAATTAGTATATCCAATTAAAAAAAGAGGAAGACGGTTGGGCGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCAACTGAGGTCAGGAGTTCGAGACCAACCTGTCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAATTAGCCAGGC... | pathogenic | 86,107 |
Gene mutation in BBS7 (Bardet-Biedl syndrome 7) at chromosome 4, position 121844015—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | ACAGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCACCTGAGGTCAGGAGTTCAAGACTAGCCTGACCAACATGGCAAAAACCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGTGTGCGTGTAGTCCCAGCTACTTGGGAGTCTTGAGACAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGAGGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGAAAAAGAAAATTATT... | ACAGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCACCTGAGGTCAGGAGTTCAAGACTAGCCTGACCAACATGGCAAAAACCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGTGTGCGTGTAGTCCCAGCTACTTGGGAGTCTTGAGACAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGAGGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGAAAAAGAAAATTATT... | benign | 86,110 |
Does the chromosome 4 mutation at position 121845639 within gene BBS7 (Bardet-Biedl syndrome 7) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_7'] | AGATTTCAGATTTTCAAATTTGGGGTGCTGAACCAGTAAATACAAAACAAATATTCCAAAACCTGAAAAAAATCCAAAATCCAAAATACTTCTTGGTCCCAAGCATTTCACATAAGGGATATCAACCTGTAACAGATCACAGAAAAGAAGGAATCTAGGACATCAGGTTTCTCGACTGAGGACAGGGAAAGAGAACCGACACAGATTTTGAAGGAAAGGTTACATAAGAAATAATTGAAAAAGAAACATCAAAACCTAGCAGCATCTATAGACTTTAATCAAAATGGCATAATAGAAATGAAAGCATGTGAAGAATTCTT... | AGATTTCAGATTTTCAAATTTGGGGTGCTGAACCAGTAAATACAAAACAAATATTCCAAAACCTGAAAAAAATCCAAAATCCAAAATACTTCTTGGTCCCAAGCATTTCACATAAGGGATATCAACCTGTAACAGATCACAGAAAAGAAGGAATCTAGGACATCAGGTTTCTCGACTGAGGACAGGGAAAGAGAACCGACACAGATTTTGAAGGAAAGGTTACATAAGAAATAATTGAAAAAGAAACATCAAAACCTAGCAGCATCTATAGACTTTAATCAAAATGGCATAATAGAAATGAAAGCATGTGAAGAATTCTT... | pathogenic | 86,113 |
Is the genetic variant on chromosome 4, position 121845649, gene BBS7 (Bardet-Biedl syndrome 7), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['BBS7-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_7'] | TTTTCAAATTTGGGGTGCTGAACCAGTAAATACAAAACAAATATTCCAAAACCTGAAAAAAATCCAAAATCCAAAATACTTCTTGGTCCCAAGCATTTCACATAAGGGATATCAACCTGTAACAGATCACAGAAAAGAAGGAATCTAGGACATCAGGTTTCTCGACTGAGGACAGGGAAAGAGAACCGACACAGATTTTGAAGGAAAGGTTACATAAGAAATAATTGAAAAAGAAACATCAAAACCTAGCAGCATCTATAGACTTTAATCAAAATGGCATAATAGAAATGAAAGCATGTGAAGAATTCTTTTATATTTTT... | TTTTCAAATTTGGGGTGCTGAACCAGTAAATACAAAACAAATATTCCAAAACCTGAAAAAAATCCAAAATCCAAAATACTTCTTGGTCCCAAGCATTTCACATAAGGGATATCAACCTGTAACAGATCACAGAAAAGAAGGAATCTAGGACATCAGGTTTCTCGACTGAGGACAGGGAAAGAGAACCGACACAGATTTTGAAGGAAAGGTTACATAAGAAATAATTGAAAAAGAAACATCAAAACCTAGCAGCATCTATAGACTTTAATCAAAATGGCATAATAGAAATGAAAGCATGTGAAGAATTCTTTTATATTTTT... | pathogenic | 86,114 |
Variant on chromosome 4, at position 121845670, affecting BBS7 (Bardet-Biedl syndrome 7): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['BBS7-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_7'] | ACCAGTAAATACAAAACAAATATTCCAAAACCTGAAAAAAATCCAAAATCCAAAATACTTCTTGGTCCCAAGCATTTCACATAAGGGATATCAACCTGTAACAGATCACAGAAAAGAAGGAATCTAGGACATCAGGTTTCTCGACTGAGGACAGGGAAAGAGAACCGACACAGATTTTGAAGGAAAGGTTACATAAGAAATAATTGAAAAAGAAACATCAAAACCTAGCAGCATCTATAGACTTTAATCAAAATGGCATAATAGAAATGAAAGCATGTGAAGAATTCTTTTATATTTTTACTCACCTCAGAATCACAGCT... | ACCAGTAAATACAAAACAAATATTCCAAAACCTGAAAAAAATCCAAAATCCAAAATACTTCTTGGTCCCAAGCATTTCACATAAGGGATATCAACCTGTAACAGATCACAGAAAAGAAGGAATCTAGGACATCAGGTTTCTCGACTGAGGACAGGGAAAGAGAACCGACACAGATTTTGAAGGAAAGGTTACATAAGAAATAATTGAAAAAGAAACATCAAAACCTAGCAGCATCTATAGACTTTAATCAAAATGGCATAATAGAAATGAAAGCATGTGAAGAATTCTTTTATATTTTTACTCACCTCAGAATCACAGCT... | pathogenic | 86,116 |
The chromosome 4, position 121847438 genetic variant in gene BBS7 (Bardet-Biedl syndrome 7): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_7', 'Retinal_dystrophy'] | AAATAAAATAAAATTACTGTCTAAAACTAAAAATGTTCAATAATAATTAGTACATATGACTGGTTTGCAAAATAGATCCAGTCATAAAACTAAGAAATTAGACATTTTGCTTACCTGTATTAAGACATTATCTATTGCAGTCTGTACCTCTAAGATAAGGCTGTAACTGGCATCATCTTTATTTAGTGTAAATTTATCATTTATACCAAAGGAAGGTACTGCTGATTTTGCTTTGCTTGATTGAGAAGACTGTTGATAATTCTCTCTTTCCTGCAATACCTTATACTGCAAATGTTCCAACTCATTCCTGGAGAAAAACA... | AAATAAAATAAAATTACTGTCTAAAACTAAAAATGTTCAATAATAATTAGTACATATGACTGGTTTGCAAAATAGATCCAGTCATAAAACTAAGAAATTAGACATTTTGCTTACCTGTATTAAGACATTATCTATTGCAGTCTGTACCTCTAAGATAAGGCTGTAACTGGCATCATCTTTATTTAGTGTAAATTTATCATTTATACCAAAGGAAGGTACTGCTGATTTTGCTTTGCTTGATTGAGAAGACTGTTGATAATTCTCTCTTTCCTGCAATACCTTATACTGCAAATGTTCCAACTCATTCCTGGAGAAAAACA... | pathogenic | 86,120 |
Determine whether the variant at chromosome 4, position 121848809, in gene BBS7 (Bardet-Biedl syndrome 7) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GTAGCCTTCAACTACCACCAGAAAAAAATCATCCTTCACTCCACAAAAGGTCAGCATGGGTTGAAATGGGGAGAGCAGTCATTAAAAGTTTCAGCAACTCCCACGTCTTCGTTGTATGAAGCACCTTTATTGGAGTTTGAGGTCCCCCTTTTCACAGCACACGTCAAATTGAGCAGACCATAAAAGCAATTCCTGTGTCTAGGGGAGTCAAAATTACTCAGTTCCGGTTAAGAAAATTTACAAGCCAACATTACAGATTCAGAAGGGTCCACAGGAACAGCAAACGTTAGAGTTAATGAGAAATAATACAGCCATCTGTG... | GTAGCCTTCAACTACCACCAGAAAAAAATCATCCTTCACTCCACAAAAGGTCAGCATGGGTTGAAATGGGGAGAGCAGTCATTAAAAGTTTCAGCAACTCCCACGTCTTCGTTGTATGAAGCACCTTTATTGGAGTTTGAGGTCCCCCTTTTCACAGCACACGTCAAATTGAGCAGACCATAAAAGCAATTCCTGTGTCTAGGGGAGTCAAAATTACTCAGTTCCGGTTAAGAAAATTTACAAGCCAACATTACAGATTCAGAAGGGTCCACAGGAACAGCAAACGTTAGAGTTAATGAGAAATAATACAGCCATCTGTG... | benign | 86,122 |
Gene BBS7 (Bardet-Biedl syndrome 7) variant at chromosome 4, position 121853079—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_7'] | AGAGATTGATTAGATCTTCCTTTAATTTACTGAACACAAAACACTGGAAATCACCTGACTTGCAGAAGAATGTTTTACTTATCCAATAGAAACACGCACATTCTCACTTTCTGAGTGGTTTATCAGGGAACTATTAATTACAACTTTAAAGAGTATATTTAATGCAATATACTTGGAAAACATTACAAAAATTTTTTACAAACTGTTCATTTCCTAACTGTTCATTTCTATACCCTTTTTTGCTAATAGAACATTTTAATGAAATTCATTTATCTTATGTACTTATATAAAAAAATCGGGGCTACTCTGCACACTGCCTA... | AGAGATTGATTAGATCTTCCTTTAATTTACTGAACACAAAACACTGGAAATCACCTGACTTGCAGAAGAATGTTTTACTTATCCAATAGAAACACGCACATTCTCACTTTCTGAGTGGTTTATCAGGGAACTATTAATTACAACTTTAAAGAGTATATTTAATGCAATATACTTGGAAAACATTACAAAAATTTTTTACAAACTGTTCATTTCCTAACTGTTCATTTCTATACCCTTTTTTGCTAATAGAACATTTTAATGAAATTCATTTATCTTATGTACTTATATAAAAAAATCGGGGCTACTCTGCACACTGCCTA... | pathogenic | 86,129 |
Evaluate the clinical significance of the mutation at chromosome 4, position 121854706 in gene BBS7 (Bardet-Biedl syndrome 7): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['BBS7-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1', 'Bardet-Biedl_syndrome_7', 'Retinal_dystrophy'] | TACTCCCATAAAGTGTCATTATATGTTATAAACTAAGGCAAAATATTTAATACTTTAGAGACTTATAATAATATTTTAAAGTATAATGAAAAAGTAATTTGTTATCCTGCTTAAAGGCAAGAGTCTATTATTCAAACACAAGAGAAGTCTAGAGAAGATTCTGATAACATCAAAATAGCAATATTTTAAACCAAACACAAGATTTTAATATATTTTCACTTAATAAAATTCAAACCATCTGTCATCTCTATAATAATTTGACAAATAATAAGCATATAGTCTTTTTTAATGAACTTACCTGATCAAATCGTAGAACAGGT... | TACTCCCATAAAGTGTCATTATATGTTATAAACTAAGGCAAAATATTTAATACTTTAGAGACTTATAATAATATTTTAAAGTATAATGAAAAAGTAATTTGTTATCCTGCTTAAAGGCAAGAGTCTATTATTCAAACACAAGAGAAGTCTAGAGAAGATTCTGATAACATCAAAATAGCAATATTTTAAACCAAACACAAGATTTTAATATATTTTCACTTAATAAAATTCAAACCATCTGTCATCTCTATAATAATTTGACAAATAATAAGCATATAGTCTTTTTTAATGAACTTACCTGATCAAATCGTAGAACAGGT... | pathogenic | 86,130 |
Clinical classification of chromosome 4, position 121854772, gene BBS7 (Bardet-Biedl syndrome 7): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_7'] | AATAATATTTTAAAGTATAATGAAAAAGTAATTTGTTATCCTGCTTAAAGGCAAGAGTCTATTATTCAAACACAAGAGAAGTCTAGAGAAGATTCTGATAACATCAAAATAGCAATATTTTAAACCAAACACAAGATTTTAATATATTTTCACTTAATAAAATTCAAACCATCTGTCATCTCTATAATAATTTGACAAATAATAAGCATATAGTCTTTTTTAATGAACTTACCTGATCAAATCGTAGAACAGGTTCATTTGCATTATCAAAACTATACACTTCCACCATTCCGTCATCTCTCCCAACAAGTAAATCTTTA... | AATAATATTTTAAAGTATAATGAAAAAGTAATTTGTTATCCTGCTTAAAGGCAAGAGTCTATTATTCAAACACAAGAGAAGTCTAGAGAAGATTCTGATAACATCAAAATAGCAATATTTTAAACCAAACACAAGATTTTAATATATTTTCACTTAATAAAATTCAAACCATCTGTCATCTCTATAATAATTTGACAAATAATAAGCATATAGTCTTTTTTAATGAACTTACCTGATCAAATCGTAGAACAGGTTCATTTGCATTATCAAAACTATACACTTCCACCATTCCGTCATCTCTCCCAACAAGTAAATCTTTA... | pathogenic | 86,133 |
Variant on chromosome 4, at position 121854807, affecting BBS7 (Bardet-Biedl syndrome 7): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_7'] | TTATCCTGCTTAAAGGCAAGAGTCTATTATTCAAACACAAGAGAAGTCTAGAGAAGATTCTGATAACATCAAAATAGCAATATTTTAAACCAAACACAAGATTTTAATATATTTTCACTTAATAAAATTCAAACCATCTGTCATCTCTATAATAATTTGACAAATAATAAGCATATAGTCTTTTTTAATGAACTTACCTGATCAAATCGTAGAACAGGTTCATTTGCATTATCAAAACTATACACTTCCACCATTCCGTCATCTCTCCCAACAAGTAAATCTTTAACCCCATCACCCACAATGTCAAAGCTGTCAATACA... | TTATCCTGCTTAAAGGCAAGAGTCTATTATTCAAACACAAGAGAAGTCTAGAGAAGATTCTGATAACATCAAAATAGCAATATTTTAAACCAAACACAAGATTTTAATATATTTTCACTTAATAAAATTCAAACCATCTGTCATCTCTATAATAATTTGACAAATAATAAGCATATAGTCTTTTTTAATGAACTTACCTGATCAAATCGTAGAACAGGTTCATTTGCATTATCAAAACTATACACTTCCACCATTCCGTCATCTCTCCCAACAAGTAAATCTTTAACCCCATCACCCACAATGTCAAAGCTGTCAATACA... | pathogenic | 86,135 |
Gene mutation in BBS7 (Bardet-Biedl syndrome 7) at chromosome 4, position 121855507—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Retinal_dystrophy'] | TCCATAAATTATTCTACCTAGCTGCTCAGACAAAAATTCTGGGCCACATCTGATTTCTTTCTTTTTCTCACCACCCCTCATATCAAAACTGCTAGCAAATTCCATCTTCTCTACCTCCACAATATATACTGAAATTGTCTATGTTTCCAGCTACTGATAGCCTAGACTAAGCTAGCCTAGACTAGAATAAATTATAATAACTCTTCTAACTGGTCTCCATGCTTCCAGTTTTGACCTGTTGCCCCCCGCCCCCTCCAATCCATTCTCCAGTGTCCTTTGTTTTGTTTAGGCTTAGTAAATTAAGTGTCACACTCCCACTG... | TCCATAAATTATTCTACCTAGCTGCTCAGACAAAAATTCTGGGCCACATCTGATTTCTTTCTTTTTCTCACCACCCCTCATATCAAAACTGCTAGCAAATTCCATCTTCTCTACCTCCACAATATATACTGAAATTGTCTATGTTTCCAGCTACTGATAGCCTAGACTAAGCTAGCCTAGACTAGAATAAATTATAATAACTCTTCTAACTGGTCTCCATGCTTCCAGTTTTGACCTGTTGCCCCCCGCCCCCTCCAATCCATTCTCCAGTGTCCTTTGTTTTGTTTAGGCTTAGTAAATTAAGTGTCACACTCCCACTG... | pathogenic | 86,137 |
The mutation in gene BBS7 (Bardet-Biedl syndrome 7) at chromosome 4, position 121859129—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_7', 'Inborn_genetic_diseases'] | AATGTTTATTTAGAAAACGTAAGAAAGCCATATGCTTTATCTTTTTTTTTTTTTTTGAGCCAGGATCTGACTCTGTCATCCAGGCTGGAGTGCAGTGCAGTGGTGTGATCATAGCTTACCGCAGCCTCGACCTTCTGGGCTCAAATGATGTTCCCACCTCAGCTTCCTGAGTAGCTGGGACTACTGGCATGCACCACCATGCCCAGCTAAATTTTTTTTAAGAGATGGGGGTCTCGCTATGTTGCCCAGGCTGGTCTTGAATTCCTGGAGTCAAGTGATCCTCCAACCTCGGCCTCCCAAAGTGCTGGGGTAATAGGCCT... | AATGTTTATTTAGAAAACGTAAGAAAGCCATATGCTTTATCTTTTTTTTTTTTTTTGAGCCAGGATCTGACTCTGTCATCCAGGCTGGAGTGCAGTGCAGTGGTGTGATCATAGCTTACCGCAGCCTCGACCTTCTGGGCTCAAATGATGTTCCCACCTCAGCTTCCTGAGTAGCTGGGACTACTGGCATGCACCACCATGCCCAGCTAAATTTTTTTTAAGAGATGGGGGTCTCGCTATGTTGCCCAGGCTGGTCTTGAATTCCTGGAGTCAAGTGATCCTCCAACCTCGGCCTCCCAAAGTGCTGGGGTAATAGGCCT... | pathogenic | 86,142 |
Evaluate the clinical significance of the mutation at chromosome 4, position 121861516 in gene BBS7 (Bardet-Biedl syndrome 7): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Bardet-Biedl_syndrome_7'] | AGACAATTAATACATCAAAAAATGACTTCTTTGTGTACTATGTGCCAAGCACTATCTTAAGTGATTTTTATGTATTAGATCAATTAATCATCATAACTCTATAAAATAAGGACCATTATTATTCCTTTTACAGGTGAATAATAAAATGTAAAATAACTTGCCTAATGGCACCTAAGTATTAAGTAGTAGATTAGACTGCAACTCAGTTTTTTGCTCGAGTTAGCTTTCTTACTACCACACTAAATTGCCTGAAAAAGTCTATTTTAAGTGATTCTACCTCAAACTAAATGATAAACAGCAGAAAAAAAAAGATTTCATTA... | AGACAATTAATACATCAAAAAATGACTTCTTTGTGTACTATGTGCCAAGCACTATCTTAAGTGATTTTTATGTATTAGATCAATTAATCATCATAACTCTATAAAATAAGGACCATTATTATTCCTTTTACAGGTGAATAATAAAATGTAAAATAACTTGCCTAATGGCACCTAAGTATTAAGTAGTAGATTAGACTGCAACTCAGTTTTTTGCTCGAGTTAGCTTTCTTACTACCACACTAAATTGCCTGAAAAAGTCTATTTTAAGTGATTCTACCTCAAACTAAATGATAAACAGCAGAAAAAAAAAGATTTCATTA... | pathogenic | 86,144 |
Clinical classification of chromosome 4, position 121863232, gene BBS7 (Bardet-Biedl syndrome 7): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_7'] | ACCAGAACTATCAAAAATAGCCAAGGAACATAAAGCTAAATATCTAGATTTATTTTCAATTTTTTTGATACCTTGATCATGAATCAAACTGAACCAAGTTGTCAAAAATGATTGTATAAATACTATAAAGTTCTTTAAAAAAATTTCAACAACCAATTTAATATTGATTGTAGGTCAAATTTAGTTTCTGACTAATAAAATACCTTTAGTTAATTTTATTTTCCAGAAAGCCTATTAAGATATGATACTTAGTTGCCTCACATCTATCCAAAATATTATAAATAAGTATGTAAAAATACAAAAGAGAACAAAAGACATAC... | ACCAGAACTATCAAAAATAGCCAAGGAACATAAAGCTAAATATCTAGATTTATTTTCAATTTTTTTGATACCTTGATCATGAATCAAACTGAACCAAGTTGTCAAAAATGATTGTATAAATACTATAAAGTTCTTTAAAAAAATTTCAACAACCAATTTAATATTGATTGTAGGTCAAATTTAGTTTCTGACTAATAAAATACCTTTAGTTAATTTTATTTTCCAGAAAGCCTATTAAGATATGATACTTAGTTGCCTCACATCTATCCAAAATATTATAAATAAGTATGTAAAAATACAAAAGAGAACAAAAGACATAC... | pathogenic | 86,149 |
Gene mutation in BBS7 (Bardet-Biedl syndrome 7) at chromosome 4, position 121863248—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_7'] | ATAGCCAAGGAACATAAAGCTAAATATCTAGATTTATTTTCAATTTTTTTGATACCTTGATCATGAATCAAACTGAACCAAGTTGTCAAAAATGATTGTATAAATACTATAAAGTTCTTTAAAAAAATTTCAACAACCAATTTAATATTGATTGTAGGTCAAATTTAGTTTCTGACTAATAAAATACCTTTAGTTAATTTTATTTTCCAGAAAGCCTATTAAGATATGATACTTAGTTGCCTCACATCTATCCAAAATATTATAAATAAGTATGTAAAAATACAAAAGAGAACAAAAGACATACATAGCTTTAATGCTTT... | ATAGCCAAGGAACATAAAGCTAAATATCTAGATTTATTTTCAATTTTTTTGATACCTTGATCATGAATCAAACTGAACCAAGTTGTCAAAAATGATTGTATAAATACTATAAAGTTCTTTAAAAAAATTTCAACAACCAATTTAATATTGATTGTAGGTCAAATTTAGTTTCTGACTAATAAAATACCTTTAGTTAATTTTATTTTCCAGAAAGCCTATTAAGATATGATACTTAGTTGCCTCACATCTATCCAAAATATTATAAATAAGTATGTAAAAATACAAAAGAGAACAAAAGACATACATAGCTTTAATGCTTT... | pathogenic | 86,150 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 121867994, gene BBS7 (Bardet-Biedl syndrome 7). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_7'] | TTTGATTTGCCATTTTCCTGATGATTAATGATGTTAAGTATTTTTTCATGTTTTTTTGGTCATTTGTATGTATTCTTCTGAGAAATGTTTAGATCATTTGCCCACTTTTTAATCAGATTGCTTGTTTGTTTGCTATTGGTATGTTTGAGTTCCTTGTATATTCTGGATATTAATTCCTTGTTGGATGAGTAGTTTGCAAATATTTTAAATCCCATTCTATAGATTGTCTTTTCACTCTTGTTGATTGTTTCCTTTCCTGTGTAGAAGCTTTTTGGTTTGATATGATCCCACTTGTTTATTTTTGCTTTTGTTGTTTGTGT... | TTTGATTTGCCATTTTCCTGATGATTAATGATGTTAAGTATTTTTTCATGTTTTTTTGGTCATTTGTATGTATTCTTCTGAGAAATGTTTAGATCATTTGCCCACTTTTTAATCAGATTGCTTGTTTGTTTGCTATTGGTATGTTTGAGTTCCTTGTATATTCTGGATATTAATTCCTTGTTGGATGAGTAGTTTGCAAATATTTTAAATCCCATTCTATAGATTGTCTTTTCACTCTTGTTGATTGTTTCCTTTCCTGTGTAGAAGCTTTTTGGTTTGATATGATCCCACTTGTTTATTTTTGCTTTTGTTGTTTGTGT... | pathogenic | 86,151 |
Clinical impact (benign or pathogenic) of the variant at chromosome 4, location 121868010, gene BBS7 (Bardet-Biedl syndrome 7): what disease(s) if pathogenic? | pathogenic; ['BBS7-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_7'] | CCTGATGATTAATGATGTTAAGTATTTTTTCATGTTTTTTTGGTCATTTGTATGTATTCTTCTGAGAAATGTTTAGATCATTTGCCCACTTTTTAATCAGATTGCTTGTTTGTTTGCTATTGGTATGTTTGAGTTCCTTGTATATTCTGGATATTAATTCCTTGTTGGATGAGTAGTTTGCAAATATTTTAAATCCCATTCTATAGATTGTCTTTTCACTCTTGTTGATTGTTTCCTTTCCTGTGTAGAAGCTTTTTGGTTTGATATGATCCCACTTGTTTATTTTTGCTTTTGTTGTTTGTGTTTTTGAGGTCTTATTC... | CCTGATGATTAATGATGTTAAGTATTTTTTCATGTTTTTTTGGTCATTTGTATGTATTCTTCTGAGAAATGTTTAGATCATTTGCCCACTTTTTAATCAGATTGCTTGTTTGTTTGCTATTGGTATGTTTGAGTTCCTTGTATATTCTGGATATTAATTCCTTGTTGGATGAGTAGTTTGCAAATATTTTAAATCCCATTCTATAGATTGTCTTTTCACTCTTGTTGATTGTTTCCTTTCCTGTGTAGAAGCTTTTTGGTTTGATATGATCCCACTTGTTTATTTTTGCTTTTGTTGTTTGTGTTTTTGAGGTCTTATTC... | pathogenic | 86,152 |
Does the variant impacting BBS12 (Bardet-Biedl syndrome 12) on chromosome 4, position 122741940, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['BBS12-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | GAGCATGCTTTCTCTAAGATGCATCATAAATGGTTTTCTTTAAGTGAATGAAGACTTTGACAGAGAAATATCTTTGTAAGCAAACATTAAGAATGCTGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCAGGAGGATCGCTTGAGCCTGGTACTTCAAGACCAGACTGGGCAGCATGGCGAAATCCCATCTCTACAAAAAAAATAGAAAAATTAGCCGGGTATGGTGGCATGCACTTGTAGTCCCAGTTACTTGGGAGGCTGAGGTGGGAGAATCACCTAAGCCCAGGAGGTCGAGGCT... | GAGCATGCTTTCTCTAAGATGCATCATAAATGGTTTTCTTTAAGTGAATGAAGACTTTGACAGAGAAATATCTTTGTAAGCAAACATTAAGAATGCTGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCAGGAGGATCGCTTGAGCCTGGTACTTCAAGACCAGACTGGGCAGCATGGCGAAATCCCATCTCTACAAAAAAAATAGAAAAATTAGCCGGGTATGGTGGCATGCACTTGTAGTCCCAGTTACTTGGGAGGCTGAGGTGGGAGAATCACCTAAGCCCAGGAGGTCGAGGCT... | pathogenic | 86,177 |
Regarding the variant found on chromosome 4 at position 122742154 in gene BBS12 (Bardet-Biedl syndrome 12): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Abnormality_of_the_nervous_system', 'BBS12-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | ACAAAAAAAATAGAAAAATTAGCCGGGTATGGTGGCATGCACTTGTAGTCCCAGTTACTTGGGAGGCTGAGGTGGGAGAATCACCTAAGCCCAGGAGGTCGAGGCTGCAGTGAGCCATGCCACTGCACTCCAGTCTAGGTGACAGAGCGAGACCCTGTCTAAAAAATAAAAATAAAAAGAATGCTAATCATTTCTGAGTTCGCTGTGACTTGTAATACTGGGGATCTCCCTTGTAACACTGGAACTGAAAGACTGACGAAAGCTATGTCAAGCATTCATTATTCTGAAGAGGAGGAGAAATGCCACATACCTTTCCCATT... | ACAAAAAAAATAGAAAAATTAGCCGGGTATGGTGGCATGCACTTGTAGTCCCAGTTACTTGGGAGGCTGAGGTGGGAGAATCACCTAAGCCCAGGAGGTCGAGGCTGCAGTGAGCCATGCCACTGCACTCCAGTCTAGGTGACAGAGCGAGACCCTGTCTAAAAAATAAAAATAAAAAGAATGCTAATCATTTCTGAGTTCGCTGTGACTTGTAATACTGGGGATCTCCCTTGTAACACTGGAACTGAAAGACTGACGAAAGCTATGTCAAGCATTCATTATTCTGAAGAGGAGGAGAAATGCCACATACCTTTCCCATT... | pathogenic | 86,183 |
Chromosome 4, position 122742159, gene BBS12 (Bardet-Biedl syndrome 12): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | AAAAATAGAAAAATTAGCCGGGTATGGTGGCATGCACTTGTAGTCCCAGTTACTTGGGAGGCTGAGGTGGGAGAATCACCTAAGCCCAGGAGGTCGAGGCTGCAGTGAGCCATGCCACTGCACTCCAGTCTAGGTGACAGAGCGAGACCCTGTCTAAAAAATAAAAATAAAAAGAATGCTAATCATTTCTGAGTTCGCTGTGACTTGTAATACTGGGGATCTCCCTTGTAACACTGGAACTGAAAGACTGACGAAAGCTATGTCAAGCATTCATTATTCTGAAGAGGAGGAGAAATGCCACATACCTTTCCCATTGAACC... | AAAAATAGAAAAATTAGCCGGGTATGGTGGCATGCACTTGTAGTCCCAGTTACTTGGGAGGCTGAGGTGGGAGAATCACCTAAGCCCAGGAGGTCGAGGCTGCAGTGAGCCATGCCACTGCACTCCAGTCTAGGTGACAGAGCGAGACCCTGTCTAAAAAATAAAAATAAAAAGAATGCTAATCATTTCTGAGTTCGCTGTGACTTGTAATACTGGGGATCTCCCTTGTAACACTGGAACTGAAAGACTGACGAAAGCTATGTCAAGCATTCATTATTCTGAAGAGGAGGAGAAATGCCACATACCTTTCCCATTGAACC... | pathogenic | 86,184 |
Mutation at chromosome 4, position 122742314, within BBS12 (Bardet-Biedl syndrome 12): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | AAAAAATAAAAATAAAAAGAATGCTAATCATTTCTGAGTTCGCTGTGACTTGTAATACTGGGGATCTCCCTTGTAACACTGGAACTGAAAGACTGACGAAAGCTATGTCAAGCATTCATTATTCTGAAGAGGAGGAGAAATGCCACATACCTTTCCCATTGAACCTGTGGTGGAATAAATCCATGGTTGTGTCTTGCTTTGAACAGACTTTTGTTCTGAGCACTGCTCACGATGGATTTTTATGCTTCATTTTCATATCTCTCTGCACAATTAGATTGGGAGTTCCTTGAGGGCAGAGTATGTATAATCTTTGTCTTTGT... | AAAAAATAAAAATAAAAAGAATGCTAATCATTTCTGAGTTCGCTGTGACTTGTAATACTGGGGATCTCCCTTGTAACACTGGAACTGAAAGACTGACGAAAGCTATGTCAAGCATTCATTATTCTGAAGAGGAGGAGAAATGCCACATACCTTTCCCATTGAACCTGTGGTGGAATAAATCCATGGTTGTGTCTTGCTTTGAACAGACTTTTGTTCTGAGCACTGCTCACGATGGATTTTTATGCTTCATTTTCATATCTCTCTGCACAATTAGATTGGGAGTTCCTTGAGGGCAGAGTATGTATAATCTTTGTCTTTGT... | pathogenic | 86,187 |
Considering the genetic mutation at chromosome 4, position 122742457, impacting BBS12 (Bardet-Biedl syndrome 12): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_12'] | CACATACCTTTCCCATTGAACCTGTGGTGGAATAAATCCATGGTTGTGTCTTGCTTTGAACAGACTTTTGTTCTGAGCACTGCTCACGATGGATTTTTATGCTTCATTTTCATATCTCTCTGCACAATTAGATTGGGAGTTCCTTGAGGGCAGAGTATGTATAATCTTTGTCTTTGTAATCCCGGCAATTAACACAGTGCCTCCTGGTACATTGTAGGTGCTTAAGAAATACTCACTAAATGCATGAATGAATGAAACGAAGGAATGACTAGGAATGTTTGTAGTGCTATAATATATAATGGGATATACTCCAGTCTGGT... | CACATACCTTTCCCATTGAACCTGTGGTGGAATAAATCCATGGTTGTGTCTTGCTTTGAACAGACTTTTGTTCTGAGCACTGCTCACGATGGATTTTTATGCTTCATTTTCATATCTCTCTGCACAATTAGATTGGGAGTTCCTTGAGGGCAGAGTATGTATAATCTTTGTCTTTGTAATCCCGGCAATTAACACAGTGCCTCCTGGTACATTGTAGGTGCTTAAGAAATACTCACTAAATGCATGAATGAATGAAACGAAGGAATGACTAGGAATGTTTGTAGTGCTATAATATATAATGGGATATACTCCAGTCTGGT... | pathogenic | 86,190 |
Evaluate if the mutation on chromosome 4 at position 122742479 in BBS12 (Bardet-Biedl syndrome 12) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | TGTGGTGGAATAAATCCATGGTTGTGTCTTGCTTTGAACAGACTTTTGTTCTGAGCACTGCTCACGATGGATTTTTATGCTTCATTTTCATATCTCTCTGCACAATTAGATTGGGAGTTCCTTGAGGGCAGAGTATGTATAATCTTTGTCTTTGTAATCCCGGCAATTAACACAGTGCCTCCTGGTACATTGTAGGTGCTTAAGAAATACTCACTAAATGCATGAATGAATGAAACGAAGGAATGACTAGGAATGTTTGTAGTGCTATAATATATAATGGGATATACTCCAGTCTGGTACTTGTCTAGTCAGTCCTCTAC... | TGTGGTGGAATAAATCCATGGTTGTGTCTTGCTTTGAACAGACTTTTGTTCTGAGCACTGCTCACGATGGATTTTTATGCTTCATTTTCATATCTCTCTGCACAATTAGATTGGGAGTTCCTTGAGGGCAGAGTATGTATAATCTTTGTCTTTGTAATCCCGGCAATTAACACAGTGCCTCCTGGTACATTGTAGGTGCTTAAGAAATACTCACTAAATGCATGAATGAATGAAACGAAGGAATGACTAGGAATGTTTGTAGTGCTATAATATATAATGGGATATACTCCAGTCTGGTACTTGTCTAGTCAGTCCTCTAC... | pathogenic | 86,191 |
Assess the variant on chromosome 4, position 122742561, impacting BBS12 (Bardet-Biedl syndrome 12): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | CATTTTCATATCTCTCTGCACAATTAGATTGGGAGTTCCTTGAGGGCAGAGTATGTATAATCTTTGTCTTTGTAATCCCGGCAATTAACACAGTGCCTCCTGGTACATTGTAGGTGCTTAAGAAATACTCACTAAATGCATGAATGAATGAAACGAAGGAATGACTAGGAATGTTTGTAGTGCTATAATATATAATGGGATATACTCCAGTCTGGTACTTGTCTAGTCAGTCCTCTACGGTGTTATCAGAGTGGTAATATATCCAAAACATTACAATTATTATTGTTATTAAAACAAGAACTCATAAAACATGGTGCCAG... | CATTTTCATATCTCTCTGCACAATTAGATTGGGAGTTCCTTGAGGGCAGAGTATGTATAATCTTTGTCTTTGTAATCCCGGCAATTAACACAGTGCCTCCTGGTACATTGTAGGTGCTTAAGAAATACTCACTAAATGCATGAATGAATGAAACGAAGGAATGACTAGGAATGTTTGTAGTGCTATAATATATAATGGGATATACTCCAGTCTGGTACTTGTCTAGTCAGTCCTCTACGGTGTTATCAGAGTGGTAATATATCCAAAACATTACAATTATTATTGTTATTAAAACAAGAACTCATAAAACATGGTGCCAG... | pathogenic | 86,193 |
Is the genetic variant on chromosome 4, position 122742574, gene BBS12 (Bardet-Biedl syndrome 12), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['BBS12-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | CTCTGCACAATTAGATTGGGAGTTCCTTGAGGGCAGAGTATGTATAATCTTTGTCTTTGTAATCCCGGCAATTAACACAGTGCCTCCTGGTACATTGTAGGTGCTTAAGAAATACTCACTAAATGCATGAATGAATGAAACGAAGGAATGACTAGGAATGTTTGTAGTGCTATAATATATAATGGGATATACTCCAGTCTGGTACTTGTCTAGTCAGTCCTCTACGGTGTTATCAGAGTGGTAATATATCCAAAACATTACAATTATTATTGTTATTAAAACAAGAACTCATAAAACATGGTGCCAGACATTGTTCTAAG... | CTCTGCACAATTAGATTGGGAGTTCCTTGAGGGCAGAGTATGTATAATCTTTGTCTTTGTAATCCCGGCAATTAACACAGTGCCTCCTGGTACATTGTAGGTGCTTAAGAAATACTCACTAAATGCATGAATGAATGAAACGAAGGAATGACTAGGAATGTTTGTAGTGCTATAATATATAATGGGATATACTCCAGTCTGGTACTTGTCTAGTCAGTCCTCTACGGTGTTATCAGAGTGGTAATATATCCAAAACATTACAATTATTATTGTTATTAAAACAAGAACTCATAAAACATGGTGCCAGACATTGTTCTAAG... | pathogenic | 86,194 |
Located at chromosome 4 position 122742584, the variant affecting gene BBS12 (Bardet-Biedl syndrome 12)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | TTAGATTGGGAGTTCCTTGAGGGCAGAGTATGTATAATCTTTGTCTTTGTAATCCCGGCAATTAACACAGTGCCTCCTGGTACATTGTAGGTGCTTAAGAAATACTCACTAAATGCATGAATGAATGAAACGAAGGAATGACTAGGAATGTTTGTAGTGCTATAATATATAATGGGATATACTCCAGTCTGGTACTTGTCTAGTCAGTCCTCTACGGTGTTATCAGAGTGGTAATATATCCAAAACATTACAATTATTATTGTTATTAAAACAAGAACTCATAAAACATGGTGCCAGACATTGTTCTAAGTACTATATTC... | TTAGATTGGGAGTTCCTTGAGGGCAGAGTATGTATAATCTTTGTCTTTGTAATCCCGGCAATTAACACAGTGCCTCCTGGTACATTGTAGGTGCTTAAGAAATACTCACTAAATGCATGAATGAATGAAACGAAGGAATGACTAGGAATGTTTGTAGTGCTATAATATATAATGGGATATACTCCAGTCTGGTACTTGTCTAGTCAGTCCTCTACGGTGTTATCAGAGTGGTAATATATCCAAAACATTACAATTATTATTGTTATTAAAACAAGAACTCATAAAACATGGTGCCAGACATTGTTCTAAGTACTATATTC... | pathogenic | 86,196 |
Variant chromosome 4, position 122742585, gene BBS12 (Bardet-Biedl syndrome 12): benign or pathogenic? Disease(s)? | pathogenic; ['Bardet-Biedl_syndrome_12'] | TAGATTGGGAGTTCCTTGAGGGCAGAGTATGTATAATCTTTGTCTTTGTAATCCCGGCAATTAACACAGTGCCTCCTGGTACATTGTAGGTGCTTAAGAAATACTCACTAAATGCATGAATGAATGAAACGAAGGAATGACTAGGAATGTTTGTAGTGCTATAATATATAATGGGATATACTCCAGTCTGGTACTTGTCTAGTCAGTCCTCTACGGTGTTATCAGAGTGGTAATATATCCAAAACATTACAATTATTATTGTTATTAAAACAAGAACTCATAAAACATGGTGCCAGACATTGTTCTAAGTACTATATTCA... | TAGATTGGGAGTTCCTTGAGGGCAGAGTATGTATAATCTTTGTCTTTGTAATCCCGGCAATTAACACAGTGCCTCCTGGTACATTGTAGGTGCTTAAGAAATACTCACTAAATGCATGAATGAATGAAACGAAGGAATGACTAGGAATGTTTGTAGTGCTATAATATATAATGGGATATACTCCAGTCTGGTACTTGTCTAGTCAGTCCTCTACGGTGTTATCAGAGTGGTAATATATCCAAAACATTACAATTATTATTGTTATTAAAACAAGAACTCATAAAACATGGTGCCAGACATTGTTCTAAGTACTATATTCA... | pathogenic | 86,197 |
Gene BBS12 (Bardet-Biedl syndrome 12) variant at chromosome position 122742669 on chromosome 4: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | TGTAGGTGCTTAAGAAATACTCACTAAATGCATGAATGAATGAAACGAAGGAATGACTAGGAATGTTTGTAGTGCTATAATATATAATGGGATATACTCCAGTCTGGTACTTGTCTAGTCAGTCCTCTACGGTGTTATCAGAGTGGTAATATATCCAAAACATTACAATTATTATTGTTATTAAAACAAGAACTCATAAAACATGGTGCCAGACATTGTTCTAAGTACTATATTCACTCCTTATAATGACTATGAAATAGCTTCTATTATTATCCCTGTTTTTTAGATGTGGAAATTAAGGGATAAAGTACATAACTTGC... | TGTAGGTGCTTAAGAAATACTCACTAAATGCATGAATGAATGAAACGAAGGAATGACTAGGAATGTTTGTAGTGCTATAATATATAATGGGATATACTCCAGTCTGGTACTTGTCTAGTCAGTCCTCTACGGTGTTATCAGAGTGGTAATATATCCAAAACATTACAATTATTATTGTTATTAAAACAAGAACTCATAAAACATGGTGCCAGACATTGTTCTAAGTACTATATTCACTCCTTATAATGACTATGAAATAGCTTCTATTATTATCCCTGTTTTTTAGATGTGGAAATTAAGGGATAAAGTACATAACTTGC... | pathogenic | 86,199 |
Chromosome 4, position 122742757, gene BBS12 (Bardet-Biedl syndrome 12): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['BBS12-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | GGGATATACTCCAGTCTGGTACTTGTCTAGTCAGTCCTCTACGGTGTTATCAGAGTGGTAATATATCCAAAACATTACAATTATTATTGTTATTAAAACAAGAACTCATAAAACATGGTGCCAGACATTGTTCTAAGTACTATATTCACTCCTTATAATGACTATGAAATAGCTTCTATTATTATCCCTGTTTTTTAGATGTGGAAATTAAGGGATAAAGTACATAACTTGCTGAGGGCTATATAGCTAGTAAAGCGGTAGGATTAAGTTCACACCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAA... | GGGATATACTCCAGTCTGGTACTTGTCTAGTCAGTCCTCTACGGTGTTATCAGAGTGGTAATATATCCAAAACATTACAATTATTATTGTTATTAAAACAAGAACTCATAAAACATGGTGCCAGACATTGTTCTAAGTACTATATTCACTCCTTATAATGACTATGAAATAGCTTCTATTATTATCCCTGTTTTTTAGATGTGGAAATTAAGGGATAAAGTACATAACTTGCTGAGGGCTATATAGCTAGTAAAGCGGTAGGATTAAGTTCACACCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAA... | pathogenic | 86,202 |
Is the variant located on chromosome 4 at position 122742801, gene BBS12 (Bardet-Biedl syndrome 12), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | TGTTATCAGAGTGGTAATATATCCAAAACATTACAATTATTATTGTTATTAAAACAAGAACTCATAAAACATGGTGCCAGACATTGTTCTAAGTACTATATTCACTCCTTATAATGACTATGAAATAGCTTCTATTATTATCCCTGTTTTTTAGATGTGGAAATTAAGGGATAAAGTACATAACTTGCTGAGGGCTATATAGCTAGTAAAGCGGTAGGATTAAGTTCACACCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCC... | TGTTATCAGAGTGGTAATATATCCAAAACATTACAATTATTATTGTTATTAAAACAAGAACTCATAAAACATGGTGCCAGACATTGTTCTAAGTACTATATTCACTCCTTATAATGACTATGAAATAGCTTCTATTATTATCCCTGTTTTTTAGATGTGGAAATTAAGGGATAAAGTACATAACTTGCTGAGGGCTATATAGCTAGTAAAGCGGTAGGATTAAGTTCACACCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCC... | pathogenic | 86,205 |
Benign or pathogenic: chromosome 4, position 122742898, gene BBS12 (Bardet-Biedl syndrome 12) variant? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | ATATTCACTCCTTATAATGACTATGAAATAGCTTCTATTATTATCCCTGTTTTTTAGATGTGGAAATTAAGGGATAAAGTACATAACTTGCTGAGGGCTATATAGCTAGTAAAGCGGTAGGATTAAGTTCACACCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCC... | ATATTCACTCCTTATAATGACTATGAAATAGCTTCTATTATTATCCCTGTTTTTTAGATGTGGAAATTAAGGGATAAAGTACATAACTTGCTGAGGGCTATATAGCTAGTAAAGCGGTAGGATTAAGTTCACACCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCC... | pathogenic | 86,206 |
Variant in gene BBS12 (Bardet-Biedl syndrome 12), located at chromosome 4 position 122742899: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | TATTCACTCCTTATAATGACTATGAAATAGCTTCTATTATTATCCCTGTTTTTTAGATGTGGAAATTAAGGGATAAAGTACATAACTTGCTGAGGGCTATATAGCTAGTAAAGCGGTAGGATTAAGTTCACACCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCA... | TATTCACTCCTTATAATGACTATGAAATAGCTTCTATTATTATCCCTGTTTTTTAGATGTGGAAATTAAGGGATAAAGTACATAACTTGCTGAGGGCTATATAGCTAGTAAAGCGGTAGGATTAAGTTCACACCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCA... | pathogenic | 86,207 |
Does the chromosome 4 mutation at position 122742971 within gene BBS12 (Bardet-Biedl syndrome 12) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['BBS12-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | ATAAAGTACATAACTTGCTGAGGGCTATATAGCTAGTAAAGCGGTAGGATTAAGTTCACACCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCA... | ATAAAGTACATAACTTGCTGAGGGCTATATAGCTAGTAAAGCGGTAGGATTAAGTTCACACCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCA... | pathogenic | 86,210 |
A genetic variant on chromosome 4, position 122742975, affects the gene BBS12 (Bardet-Biedl syndrome 12). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | AGTACATAACTTGCTGAGGGCTATATAGCTAGTAAAGCGGTAGGATTAAGTTCACACCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGG... | AGTACATAACTTGCTGAGGGCTATATAGCTAGTAAAGCGGTAGGATTAAGTTCACACCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGG... | pathogenic | 86,211 |
Does the variant impacting BBS12 (Bardet-Biedl syndrome 12) on chromosome 4, position 122742983, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12', 'Retinal_dystrophy'] | ACTTGCTGAGGGCTATATAGCTAGTAAAGCGGTAGGATTAAGTTCACACCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCT... | ACTTGCTGAGGGCTATATAGCTAGTAAAGCGGTAGGATTAAGTTCACACCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCT... | pathogenic | 86,212 |
Clinical significance of chromosome 4, position 122742983, gene BBS12 (Bardet-Biedl syndrome 12): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_12'] | ACTTGCTGAGGGCTATATAGCTAGTAAAGCGGTAGGATTAAGTTCACACCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCT... | ACTTGCTGAGGGCTATATAGCTAGTAAAGCGGTAGGATTAAGTTCACACCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCT... | pathogenic | 86,213 |
Mutation at chromosome 4, position 122743005, within BBS12 (Bardet-Biedl syndrome 12): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['BBS12-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12', 'Retinal_dystrophy'] | AGTAAAGCGGTAGGATTAAGTTCACACCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTGCAACCTCCGCCT... | AGTAAAGCGGTAGGATTAAGTTCACACCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTGCAACCTCCGCCT... | pathogenic | 86,215 |
Mutation at chromosome 4, position 122743031, within BBS12 (Bardet-Biedl syndrome 12): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bardet-Biedl_syndrome_12'] | CCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCT... | CCCAGACTTCTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCT... | pathogenic | 86,216 |
Considering the variant on chromosome 4, location 122743040, involving gene BBS12 (Bardet-Biedl syndrome 12), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | CTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCCCCA... | CTAGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCCCCA... | pathogenic | 86,217 |
Is the genetic variant on chromosome 4, position 122743042, gene BBS12 (Bardet-Biedl syndrome 12), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | AGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCCCCAAA... | AGGTTTAGAGTACATGTTTTCAAACACTACATCAAGTTGTTTCTTGATCTTTTTTATTAAAAACATTTTAACGGTTCCCATTACAGGATCAAGTTTAAGTTACTTGCTATGGCACATAATGCCCTTCGTAAACCAGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCCCCAAA... | pathogenic | 86,218 |
Considering the genetic mutation at chromosome 4, position 122743176, impacting BBS12 (Bardet-Biedl syndrome 12): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | AGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCCCCAAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCGGCCAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACCCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA... | AGCTCATTTCCTCTTCTAGAGCTTCATCTGCTACTGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCCCCAAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCGGCCAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACCCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA... | pathogenic | 86,224 |
Variant in BBS12 (Bardet-Biedl syndrome 12), chromosome 4, position 122743210—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | TGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCCCCAAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCGGCCAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACCCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCA... | TGTTCTCCACTACATGTTTTTTTTTGTTGTTGTTGTTTTTTCTGAGACTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCCCCAAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCGGCCAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACCCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCA... | pathogenic | 86,227 |
Assess the variant on chromosome 4, position 122743263, impacting BBS12 (Bardet-Biedl syndrome 12): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | CTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCCCCAAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCGGCCAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACCCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCGCTCCACTACATTTTTTATATTCTCATAAAACCAGGCTACTTCTATTTCC... | CTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCCCCAAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCGGCCAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACCCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCGCTCCACTACATTTTTTATATTCTCATAAAACCAGGCTACTTCTATTTCC... | pathogenic | 86,229 |
Is the genetic change at chromosome 4, position 122743346, within gene BBS12 (Bardet-Biedl syndrome 12) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | TGCCTCAGCCCCCAAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCGGCCAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACCCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCGCTCCACTACATTTTTTATATTCTCATAAAACCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAA... | TGCCTCAGCCCCCAAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCGGCCAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACCCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCGCTCCACTACATTTTTTATATTCTCATAAAACCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAA... | pathogenic | 86,237 |
Does the chromosome 4 mutation at position 122743367 within gene BBS12 (Bardet-Biedl syndrome 12) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | TGGGACTACAGGTGCGTGCCACCACACCCGGCCAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACCCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCGCTCCACTACATTTTTTATATTCTCATAAAACCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTT... | TGGGACTACAGGTGCGTGCCACCACACCCGGCCAATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACCCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCGCTCCACTACATTTTTTATATTCTCATAAAACCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTT... | pathogenic | 86,239 |
Mutation at chromosome 4, position 122743421, within BBS12 (Bardet-Biedl syndrome 12): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['BBS12-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12', 'Retinal_dystrophy', 'Retinitis_pigmentosa'] | GACGAGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACCCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCGCTCCACTACATTTTTTATATTCTCATAAAACCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTTTCTTCTGGAAACGTTGCCTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGA... | GACGAGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACCCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCGCTCCACTACATTTTTTATATTCTCATAAAACCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTTTCTTCTGGAAACGTTGCCTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGA... | pathogenic | 86,241 |
The mutation impacting BBS12 (Bardet-Biedl syndrome 12) on chromosome 4 at position 122743506: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | TATAGGCATGAGCCACTGCGCCCAGCCGCTCCACTACATTTTTTATATTCTCATAAAACCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTTTCTTCTGGAAACGTTGCCTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGAGTGTTTCTCTTCCATTCCCCCATACCTTTATCATTAATAGAATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATT... | TATAGGCATGAGCCACTGCGCCCAGCCGCTCCACTACATTTTTTATATTCTCATAAAACCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTTTCTTCTGGAAACGTTGCCTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGAGTGTTTCTCTTCCATTCCCCCATACCTTTATCATTAATAGAATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATT... | pathogenic | 86,242 |
Is the genetic variant on chromosome 4, position 122743516, gene BBS12 (Bardet-Biedl syndrome 12), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | AGCCACTGCGCCCAGCCGCTCCACTACATTTTTTATATTCTCATAAAACCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTTTCTTCTGGAAACGTTGCCTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGAGTGTTTCTCTTCCATTCCCCCATACCTTTATCATTAATAGAATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATTATATGTACCT... | AGCCACTGCGCCCAGCCGCTCCACTACATTTTTTATATTCTCATAAAACCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTTTCTTCTGGAAACGTTGCCTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGAGTGTTTCTCTTCCATTCCCCCATACCTTTATCATTAATAGAATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATTATATGTACCT... | pathogenic | 86,244 |
Is the chromosome 4, position 122743551 variant in BBS12 (Bardet-Biedl syndrome 12) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | TATTCTCATAAAACCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTTTCTTCTGGAAACGTTGCCTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGAGTGTTTCTCTTCCATTCCCCCATACCTTTATCATTAATAGAATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATTATATGTACCTCAAAAGCAGGGAGCATATCTTGTTTTTATTTCTAT... | TATTCTCATAAAACCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTTTCTTCTGGAAACGTTGCCTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGAGTGTTTCTCTTCCATTCCCCCATACCTTTATCATTAATAGAATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATTATATGTACCTCAAAAGCAGGGAGCATATCTTGTTTTTATTTCTAT... | pathogenic | 86,245 |
Evaluate the clinical significance of the mutation at chromosome 4, position 122743560 in gene BBS12 (Bardet-Biedl syndrome 12): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | AAAACCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTTTCTTCTGGAAACGTTGCCTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGAGTGTTTCTCTTCCATTCCCCCATACCTTTATCATTAATAGAATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATTATATGTACCTCAAAAGCAGGGAGCATATCTTGTTTTTATTTCTATATAGCATTT... | AAAACCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTTTCTTCTGGAAACGTTGCCTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGAGTGTTTCTCTTCCATTCCCCCATACCTTTATCATTAATAGAATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATTATATGTACCTCAAAAGCAGGGAGCATATCTTGTTTTTATTTCTATATAGCATTT... | pathogenic | 86,246 |
Variant in gene BBS12 (Bardet-Biedl syndrome 12), located at chromosome 4 position 122743564: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | CCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTTTCTTCTGGAAACGTTGCCTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGAGTGTTTCTCTTCCATTCCCCCATACCTTTATCATTAATAGAATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATTATATGTACCTCAAAAGCAGGGAGCATATCTTGTTTTTATTTCTATATAGCATTTATAA... | CCAGGCTACTTCTATTTCCCTGAATACACTATGTTTTTTTCACATATATGTACATTTACTACTACCTCCTTCAACTTGTAACTCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTTTCTTCTGGAAACGTTGCCTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGAGTGTTTCTCTTCCATTCCCCCATACCTTTATCATTAATAGAATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATTATATGTACCTCAAAAGCAGGGAGCATATCTTGTTTTTATTTCTATATAGCATTTATAA... | pathogenic | 86,247 |
Is chromosome 4, position 122743646, gene BBS12 (Bardet-Biedl syndrome 12) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | TCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTTTCTTCTGGAAACGTTGCCTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGAGTGTTTCTCTTCCATTCCCCCATACCTTTATCATTAATAGAATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATTATATGTACCTCAAAAGCAGGGAGCATATCTTGTTTTTATTTCTATATAGCATTTATAACTATGAATTATACTGAATAAAGTTACAAGTTTTTATTTTGTTTGCAGATCATGATACATGGTGATGGCTTGCAGAGTCGTAA... | TCTTTCCAGTTATTTTTCAAGACTCATTCCAAGAATTGCTTTCTTCTGGAAACGTTGCCTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGAGTGTTTCTCTTCCATTCCCCCATACCTTTATCATTAATAGAATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATTATATGTACCTCAAAAGCAGGGAGCATATCTTGTTTTTATTTCTATATAGCATTTATAACTATGAATTATACTGAATAAAGTTACAAGTTTTTATTTTGTTTGCAGATCATGATACATGGTGATGGCTTGCAGAGTCGTAA... | pathogenic | 86,250 |
For chromosome 4, position 122743704, gene BBS12 (Bardet-Biedl syndrome 12): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | CTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGAGTGTTTCTCTTCCATTCCCCCATACCTTTATCATTAATAGAATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATTATATGTACCTCAAAAGCAGGGAGCATATCTTGTTTTTATTTCTATATAGCATTTATAACTATGAATTATACTGAATAAAGTTACAAGTTTTTATTTTGTTTGCAGATCATGATACATGGTGATGGCTTGCAGAGTCGTAAACAAAAGAAGACACATGGGACTTCAACAACTTTCATCATTCGCGGAAACAGGAAGAAC... | CTACAGCCCTCATGCTTCATTTCCTCTGTTGGGTGGAGTGTTTCTCTTCCATTCCCCCATACCTTTATCATTAATAGAATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATTATATGTACCTCAAAAGCAGGGAGCATATCTTGTTTTTATTTCTATATAGCATTTATAACTATGAATTATACTGAATAAAGTTACAAGTTTTTATTTTGTTTGCAGATCATGATACATGGTGATGGCTTGCAGAGTCGTAAACAAAAGAAGACACATGGGACTTCAACAACTTTCATCATTCGCGGAAACAGGAAGAAC... | pathogenic | 86,252 |
Clinical classification of chromosome 4, position 122743781, gene BBS12 (Bardet-Biedl syndrome 12): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['BBS12-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12', 'Retinal_dystrophy'] | AATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATTATATGTACCTCAAAAGCAGGGAGCATATCTTGTTTTTATTTCTATATAGCATTTATAACTATGAATTATACTGAATAAAGTTACAAGTTTTTATTTTGTTTGCAGATCATGATACATGGTGATGGCTTGCAGAGTCGTAAACAAAAGAAGACACATGGGACTTCAACAACTTTCATCATTCGCGGAAACAGGAAGAACTTTCCTAGGCCCACTAAAATCATCCAAATTTATTATAGATGAAGAATGTCATGAAAGTGTATTAATCAGTTCAACAG... | AATAATAATACTGTATCATTGCACTGACCACTTTTCATGGAAATTATATGTACCTCAAAAGCAGGGAGCATATCTTGTTTTTATTTCTATATAGCATTTATAACTATGAATTATACTGAATAAAGTTACAAGTTTTTATTTTGTTTGCAGATCATGATACATGGTGATGGCTTGCAGAGTCGTAAACAAAAGAAGACACATGGGACTTCAACAACTTTCATCATTCGCGGAAACAGGAAGAACTTTCCTAGGCCCACTAAAATCATCCAAATTTATTATAGATGAAGAATGTCATGAAAGTGTATTAATCAGTTCAACAG... | pathogenic | 86,256 |
Evaluate if the mutation on chromosome 4 at position 122743840 in BBS12 (Bardet-Biedl syndrome 12) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['BBS12-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | AGCAGGGAGCATATCTTGTTTTTATTTCTATATAGCATTTATAACTATGAATTATACTGAATAAAGTTACAAGTTTTTATTTTGTTTGCAGATCATGATACATGGTGATGGCTTGCAGAGTCGTAAACAAAAGAAGACACATGGGACTTCAACAACTTTCATCATTCGCGGAAACAGGAAGAACTTTCCTAGGCCCACTAAAATCATCCAAATTTATTATAGATGAAGAATGTCATGAAAGTGTATTAATCAGTTCAACAGTAAGGCTTCTTGAAAGTTTGGATTTAACCAGTGCAGTGGGACAACTTCTCAATGAAGCA... | AGCAGGGAGCATATCTTGTTTTTATTTCTATATAGCATTTATAACTATGAATTATACTGAATAAAGTTACAAGTTTTTATTTTGTTTGCAGATCATGATACATGGTGATGGCTTGCAGAGTCGTAAACAAAAGAAGACACATGGGACTTCAACAACTTTCATCATTCGCGGAAACAGGAAGAACTTTCCTAGGCCCACTAAAATCATCCAAATTTATTATAGATGAAGAATGTCATGAAAGTGTATTAATCAGTTCAACAGTAAGGCTTCTTGAAAGTTTGGATTTAACCAGTGCAGTGGGACAACTTCTCAATGAAGCA... | pathogenic | 86,258 |
Does the chromosome 4 mutation at position 122743909 within gene BBS12 (Bardet-Biedl syndrome 12) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Bardet-Biedl_syndrome_12'] | CAAGTTTTTATTTTGTTTGCAGATCATGATACATGGTGATGGCTTGCAGAGTCGTAAACAAAAGAAGACACATGGGACTTCAACAACTTTCATCATTCGCGGAAACAGGAAGAACTTTCCTAGGCCCACTAAAATCATCCAAATTTATTATAGATGAAGAATGTCATGAAAGTGTATTAATCAGTTCAACAGTAAGGCTTCTTGAAAGTTTGGATTTAACCAGTGCAGTGGGACAACTTCTCAATGAAGCAGTTCAAGCACAAAACAACACATATAGAACTGGAATCAGTACTCTTTTGTTTCTTGTTGGTGCTTGGAGC... | CAAGTTTTTATTTTGTTTGCAGATCATGATACATGGTGATGGCTTGCAGAGTCGTAAACAAAAGAAGACACATGGGACTTCAACAACTTTCATCATTCGCGGAAACAGGAAGAACTTTCCTAGGCCCACTAAAATCATCCAAATTTATTATAGATGAAGAATGTCATGAAAGTGTATTAATCAGTTCAACAGTAAGGCTTCTTGAAAGTTTGGATTTAACCAGTGCAGTGGGACAACTTCTCAATGAAGCAGTTCAAGCACAAAACAACACATATAGAACTGGAATCAGTACTCTTTTGTTTCTTGTTGGTGCTTGGAGC... | pathogenic | 86,260 |
For chromosome 4, position 122743944, gene BBS12 (Bardet-Biedl syndrome 12): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_12'] | GTGATGGCTTGCAGAGTCGTAAACAAAAGAAGACACATGGGACTTCAACAACTTTCATCATTCGCGGAAACAGGAAGAACTTTCCTAGGCCCACTAAAATCATCCAAATTTATTATAGATGAAGAATGTCATGAAAGTGTATTAATCAGTTCAACAGTAAGGCTTCTTGAAAGTTTGGATTTAACCAGTGCAGTGGGACAACTTCTCAATGAAGCAGTTCAAGCACAAAACAACACATATAGAACTGGAATCAGTACTCTTTTGTTTCTTGTTGGTGCTTGGAGCAGTGCAGTTGAAGAATGTCTTCATCTTGGTGTCCC... | GTGATGGCTTGCAGAGTCGTAAACAAAAGAAGACACATGGGACTTCAACAACTTTCATCATTCGCGGAAACAGGAAGAACTTTCCTAGGCCCACTAAAATCATCCAAATTTATTATAGATGAAGAATGTCATGAAAGTGTATTAATCAGTTCAACAGTAAGGCTTCTTGAAAGTTTGGATTTAACCAGTGCAGTGGGACAACTTCTCAATGAAGCAGTTCAAGCACAAAACAACACATATAGAACTGGAATCAGTACTCTTTTGTTTCTTGTTGGTGCTTGGAGCAGTGCAGTTGAAGAATGTCTTCATCTTGGTGTCCC... | pathogenic | 86,262 |
Gene AFG2A (AFG2 AAA ATPase homolog A) variant at chromosome 4, position 122934573—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Microcephaly-intellectual_disability-sensorineural_hearing_loss-epilepsy-abnormal_muscle_tone_syndrome'] | GTCCCCCCTCCACTGGTCACTGACAGAACTAGACAGCTGTTTGTCTCCCCTCCTGATATGGGCTGCTTATGCACAAGAGGAGGAGGAAAAATGCTCATGTTCTGAGAACTCCTCAAGAGCAGATTTCTTTATAAATGTATGATATTTAGGTGTGTTCACTTCCTGCACTTAAGCAACTCTCTGGGGTGACACAGTTATCATTAGGAAGGAGGGGATCTCATTTTTCCTTGGTCATGCCCTTTCTCCAGAAAAAAACCTTCATTGTAACCATTACTCCTCTTTTTCCTACTTCTGCCTTTTCAAGTAACATACTGTATAGG... | GTCCCCCCTCCACTGGTCACTGACAGAACTAGACAGCTGTTTGTCTCCCCTCCTGATATGGGCTGCTTATGCACAAGAGGAGGAGGAAAAATGCTCATGTTCTGAGAACTCCTCAAGAGCAGATTTCTTTATAAATGTATGATATTTAGGTGTGTTCACTTCCTGCACTTAAGCAACTCTCTGGGGTGACACAGTTATCATTAGGAAGGAGGGGATCTCATTTTTCCTTGGTCATGCCCTTTCTCCAGAAAAAAACCTTCATTGTAACCATTACTCCTCTTTTTCCTACTTCTGCCTTTTCAAGTAACATACTGTATAGG... | pathogenic | 86,283 |
A genetic alteration at chromosome 4, position 122934662, in gene AFG2A (AFG2 AAA ATPase homolog A)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Microcephaly-intellectual_disability-sensorineural_hearing_loss-epilepsy-abnormal_muscle_tone_syndrome'] | AATGCTCATGTTCTGAGAACTCCTCAAGAGCAGATTTCTTTATAAATGTATGATATTTAGGTGTGTTCACTTCCTGCACTTAAGCAACTCTCTGGGGTGACACAGTTATCATTAGGAAGGAGGGGATCTCATTTTTCCTTGGTCATGCCCTTTCTCCAGAAAAAAACCTTCATTGTAACCATTACTCCTCTTTTTCCTACTTCTGCCTTTTCAAGTAACATACTGTATAGGACTTAATTTTCTTGAAGAAATAATTTGTAAGTTATACTGAGAGAGTGAAGTAAGTTATTAATTAGAGTCTTTCTCCAAGCTAGGCAACT... | AATGCTCATGTTCTGAGAACTCCTCAAGAGCAGATTTCTTTATAAATGTATGATATTTAGGTGTGTTCACTTCCTGCACTTAAGCAACTCTCTGGGGTGACACAGTTATCATTAGGAAGGAGGGGATCTCATTTTTCCTTGGTCATGCCCTTTCTCCAGAAAAAAACCTTCATTGTAACCATTACTCCTCTTTTTCCTACTTCTGCCTTTTCAAGTAACATACTGTATAGGACTTAATTTTCTTGAAGAAATAATTTGTAAGTTATACTGAGAGAGTGAAGTAAGTTATTAATTAGAGTCTTTCTCCAAGCTAGGCAACT... | pathogenic | 86,286 |
Benign or pathogenic: chromosome 4, position 122936160, gene AFG2A (AFG2 AAA ATPase homolog A) variant? Disease(s) if pathogenic? | benign | TACCAGGCAACTTTCTGTATTGTACATTCTATGGACGACCGTACAAGCTGCAAGTATTGCGAGTGAAAGGGGCAGATGGCATGATATTGGGAGGGCCTCAGAGTGACTCTGACACTGATGCCCAAAGAATGGCCTTTGAACAGTCCAGCATGGAAACCAGTAGCCTGGAGTTATCCTTACAGCTAAGCCAGTTAGATCTGGAGGATACCCAGATCCCAACATCAAGAAGTACTCCTTATAAACCAATTGATGACAGAATTACAAATAAAGCCAGTGATGTTTTGCTGGATGTTACACAGAGCCCTGGAGATGGCAGTGGA... | TACCAGGCAACTTTCTGTATTGTACATTCTATGGACGACCGTACAAGCTGCAAGTATTGCGAGTGAAAGGGGCAGATGGCATGATATTGGGAGGGCCTCAGAGTGACTCTGACACTGATGCCCAAAGAATGGCCTTTGAACAGTCCAGCATGGAAACCAGTAGCCTGGAGTTATCCTTACAGCTAAGCCAGTTAGATCTGGAGGATACCCAGATCCCAACATCAAGAAGTACTCCTTATAAACCAATTGATGACAGAATTACAAATAAAGCCAGTGATGTTTTGCTGGATGTTACACAGAGCCCTGGAGATGGCAGTGGA... | benign | 86,290 |
Variant at chromosome position 122947347, chromosome 4, gene AFG2A (AFG2 AAA ATPase homolog A): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Microcephaly-intellectual_disability-sensorineural_hearing_loss-epilepsy-abnormal_muscle_tone_syndrome', 'Syndromic_complex_neurodevelopmental_disorder'] | AGCTTCCGGGCTGCGGCTGCTTTGTTTACTGAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCACTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGACTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGCGGGATATAATCTCCTGGTGCACCGTTTCCTAAGCCCATCGGAAAAGCGCGGTATTAGGGTGGGAGTGACCCGATATTCCAGGTGCTGTCTGTCACCCCTTTCCTTGACCAGCAAAGGGAACTCCCTGACCCCTTGCACTTCCCGAGTGAGGCAATGCCTCACCC... | AGCTTCCGGGCTGCGGCTGCTTTGTTTACTGAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCACTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGACTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGCGGGATATAATCTCCTGGTGCACCGTTTCCTAAGCCCATCGGAAAAGCGCGGTATTAGGGTGGGAGTGACCCGATATTCCAGGTGCTGTCTGTCACCCCTTTCCTTGACCAGCAAAGGGAACTCCCTGACCCCTTGCACTTCCCGAGTGAGGCAATGCCTCACCC... | pathogenic | 86,297 |
The mutation impacting AFG2A (AFG2 AAA ATPase homolog A) on chromosome 4 at position 122947380: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Microcephaly-intellectual_disability-sensorineural_hearing_loss-epilepsy-abnormal_muscle_tone_syndrome'] | GCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCACTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGACTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGCGGGATATAATCTCCTGGTGCACCGTTTCCTAAGCCCATCGGAAAAGCGCGGTATTAGGGTGGGAGTGACCCGATATTCCAGGTGCTGTCTGTCACCCCTTTCCTTGACCAGCAAAGGGAACTCCCTGACCCCTTGCACTTCCCGAGTGAGGCAATGCCTCACCCTGCTTCGGCTCGCACACGGTGCGCTGCACCCAC... | GCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCACTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGACTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGCGGGATATAATCTCCTGGTGCACCGTTTCCTAAGCCCATCGGAAAAGCGCGGTATTAGGGTGGGAGTGACCCGATATTCCAGGTGCTGTCTGTCACCCCTTTCCTTGACCAGCAAAGGGAACTCCCTGACCCCTTGCACTTCCCGAGTGAGGCAATGCCTCACCCTGCTTCGGCTCGCACACGGTGCGCTGCACCCAC... | pathogenic | 86,299 |
The genetic variant at chromosome 4, position 123028394, affecting gene AFG2A (AFG2 AAA ATPase homolog A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Microcephaly-intellectual_disability-sensorineural_hearing_loss-epilepsy-abnormal_muscle_tone_syndrome'] | CTTTTAACAAAAGATCAGATCCCTCCTTCAGCTGTACACATTTTTAAATAAAATCATATAGAACTAAAAAAAAATACTAACACGAACGATAGGTGATGAGCTAAAAAAAATTGCAAAAAAATCTCATAATATTTTAACAGACTTTACCAATTTGTGTTGGACTGAAGGTTGGCCAAGCTTGGTTTAGCTTAAGTTATATGGATTATTTGTACAACAGAATTGAGTTGATTTCTGCGGTATTTTGAAGAGTGAAAGTGGTTTTTTAAATTTGTACTGTACTTATGTTATAAAGCAATATGAGTAATATACTTTATGTGTGA... | CTTTTAACAAAAGATCAGATCCCTCCTTCAGCTGTACACATTTTTAAATAAAATCATATAGAACTAAAAAAAAATACTAACACGAACGATAGGTGATGAGCTAAAAAAAATTGCAAAAAAATCTCATAATATTTTAACAGACTTTACCAATTTGTGTTGGACTGAAGGTTGGCCAAGCTTGGTTTAGCTTAAGTTATATGGATTATTTGTACAACAGAATTGAGTTGATTTCTGCGGTATTTTGAAGAGTGAAAGTGGTTTTTTAAATTTGTACTGTACTTATGTTATAAAGCAATATGAGTAATATACTTTATGTGTGA... | pathogenic | 86,312 |
Chromosome 4, position 123090589, gene AFG2A (AFG2 AAA ATPase homolog A): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Microcephaly-intellectual_disability-sensorineural_hearing_loss-epilepsy-abnormal_muscle_tone_syndrome'] | CTCTGTGTCCCCACCCAACTCTCATGTCAAATTGTAATCCCCGTATGTTGGAGGAGACTCCTGGTGGGAGGTGATTGGATCATGGGGGCAGATTTCCCCCTTTCAGTTCTCATGATAGTGAGTGAGTTCTCATGAGATCTGATGATTTAAACGTGTGTGGCACTTCCCCCTTCGTGCTCTCTCTCTCTCTCCTCCTGCCATGTGAAGAAAGTCCTTGCTTCCTCTTCTCCTTCAGCCATAATTGTTAGTTTCCTGAGGTCTCCCGGTCATGCTTGCTGTTAAGTGGAACTGTGAATCAATTAAACCTGTACTCTTCATAA... | CTCTGTGTCCCCACCCAACTCTCATGTCAAATTGTAATCCCCGTATGTTGGAGGAGACTCCTGGTGGGAGGTGATTGGATCATGGGGGCAGATTTCCCCCTTTCAGTTCTCATGATAGTGAGTGAGTTCTCATGAGATCTGATGATTTAAACGTGTGTGGCACTTCCCCCTTCGTGCTCTCTCTCTCTCTCCTCCTGCCATGTGAAGAAAGTCCTTGCTTCCTCTTCTCCTTCAGCCATAATTGTTAGTTTCCTGAGGTCTCCCGGTCATGCTTGCTGTTAAGTGGAACTGTGAATCAATTAAACCTGTACTCTTCATAA... | pathogenic | 86,316 |
For chromosome 4, position 127921749, gene MFSD8 (major facilitator superfamily domain containing 8): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Macular_dystrophy_with_central_cone_involvement', 'Neuronal_ceroid_lipofuscinosis_7'] | GTGTTCCTCCCCGCCACTACTGAGAGATGGGAAAAATTAAAGTAAATTAATTAATGTTTTACTAATTAAATGTTTTTCTCCAGTTTAAGGGGGTTGAAAAATAGCAATAATTTTAAGAAACCATTTACTGTTTTGTATATATATATATAAAATAACACATATCTGGATTATGTTTCTAATGTGAATTTTTGGCATTTGAAAGAAAGTAGGTATCCCTATTAGGCTAATAGGCAGTGAAGTATCTTGATCTCTTAATCCTCTGTATTGCTCAAATATTAGCATTATCCATACTCATTTATTAATGTAGGGGTTACTTAGTG... | GTGTTCCTCCCCGCCACTACTGAGAGATGGGAAAAATTAAAGTAAATTAATTAATGTTTTACTAATTAAATGTTTTTCTCCAGTTTAAGGGGGTTGAAAAATAGCAATAATTTTAAGAAACCATTTACTGTTTTGTATATATATATATAAAATAACACATATCTGGATTATGTTTCTAATGTGAATTTTTGGCATTTGAAAGAAAGTAGGTATCCCTATTAGGCTAATAGGCAGTGAAGTATCTTGATCTCTTAATCCTCTGTATTGCTCAAATATTAGCATTATCCATACTCATTTATTAATGTAGGGGTTACTTAGTG... | pathogenic | 86,591 |
Variant in gene MFSD8 (major facilitator superfamily domain containing 8), located at chromosome 4 position 127921925: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Neuronal_ceroid_lipofuscinosis_7'] | TAATGTGAATTTTTGGCATTTGAAAGAAAGTAGGTATCCCTATTAGGCTAATAGGCAGTGAAGTATCTTGATCTCTTAATCCTCTGTATTGCTCAAATATTAGCATTATCCATACTCATTTATTAATGTAGGGGTTACTTAGTGAAACCCTGAACTAAAATAAGGCAGAGGTGTAGTATTAGAAGAAAGACTCATAGAAGGCAAGGTAGGATGTTAGGCACGCTAAATGGAAAATATGTGTTATAATTTTTATTTCATAAGTGAACTTGATAATAGAAAATGCATTTTTTTATAAATAAAAAGTAGGTGTCTGAATAAAA... | TAATGTGAATTTTTGGCATTTGAAAGAAAGTAGGTATCCCTATTAGGCTAATAGGCAGTGAAGTATCTTGATCTCTTAATCCTCTGTATTGCTCAAATATTAGCATTATCCATACTCATTTATTAATGTAGGGGTTACTTAGTGAAACCCTGAACTAAAATAAGGCAGAGGTGTAGTATTAGAAGAAAGACTCATAGAAGGCAAGGTAGGATGTTAGGCACGCTAAATGGAAAATATGTGTTATAATTTTTATTTCATAAGTGAACTTGATAATAGAAAATGCATTTTTTTATAAATAAAAAGTAGGTGTCTGAATAAAA... | pathogenic | 86,600 |
Determine if the mutation at chromosome 4, position 127930822 in gene MFSD8 (major facilitator superfamily domain containing 8) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | AGACACATCTGCACTCCCATGTTCATTTCAACACTATTCACAATAGTCAAAATATGAAACCAACCTAAGTGGTCATCAATGGATGAATGGATAAATGTGGTATATATATATGGGAATATTATTCAGCCATTGAAACCATGAAATGCCATCATTTGGGGTAACATAGATGGAATTCATGGTCATTATGTTAAGTGAAATAAGCCAAGCACAGAAAGACAAATTATCACATGTTCTCACTCATGTGGGAGCTAAAAAAGTGAATCTCAGGTCGGCAGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCG... | AGACACATCTGCACTCCCATGTTCATTTCAACACTATTCACAATAGTCAAAATATGAAACCAACCTAAGTGGTCATCAATGGATGAATGGATAAATGTGGTATATATATATGGGAATATTATTCAGCCATTGAAACCATGAAATGCCATCATTTGGGGTAACATAGATGGAATTCATGGTCATTATGTTAAGTGAAATAAGCCAAGCACAGAAAGACAAATTATCACATGTTCTCACTCATGTGGGAGCTAAAAAAGTGAATCTCAGGTCGGCAGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCG... | benign | 86,609 |
Does the variant impacting MFSD8 (major facilitator superfamily domain containing 8) on chromosome 4, position 127933016, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neuronal_ceroid_lipofuscinosis_7', 'Retinal_dystrophy'] | ATTTTAAGCGTTTGTTGTTACATACCTAAGTTACTAAGTCTGCCTACTCATATTTTACTTCCTAATGTTTATTTTAATTATATAACTAATATAGCCATATTACAGAAAGTCTGAAACAAAGGAAAAGGAAACAAGCCACACCAATCATAATGCCTATCATTCTAACATTACTAAATAATCATGGTTATATTTTTAATTAAATTGGTCTCTTTCAATGCAATAATGTTATATTAAGTTATCAGAATATACTGGATTTTTGAATATATATATTTTTCTCTTTGCCTCTCAATGTCTCTTCCTTTATATGACTATATCCTTCC... | ATTTTAAGCGTTTGTTGTTACATACCTAAGTTACTAAGTCTGCCTACTCATATTTTACTTCCTAATGTTTATTTTAATTATATAACTAATATAGCCATATTACAGAAAGTCTGAAACAAAGGAAAAGGAAACAAGCCACACCAATCATAATGCCTATCATTCTAACATTACTAAATAATCATGGTTATATTTTTAATTAAATTGGTCTCTTTCAATGCAATAATGTTATATTAAGTTATCAGAATATACTGGATTTTTGAATATATATATTTTTCTCTTTGCCTCTCAATGTCTCTTCCTTTATATGACTATATCCTTCC... | pathogenic | 86,614 |
Variant on chromosome 4, at position 127939960, affecting MFSD8 (major facilitator superfamily domain containing 8): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis_7'] | GGGCCAGGATCAGTCCTTGCATTCTTTCCGCAAGGAGGATATAATTAGTACCTAAATAACAGGTTTTTTTTTGGTAAAATATAGCTACTTACTGGGTTCTCTGGCTTATATGAATCAGAGAAGATCTAAAAGATGAAAATGTATATTTCTAAAGTATACCAAAACAACAAAAATAAAAAGGCAAAACCATACCCATTTTCATACTTAAGATAATAAAGAACTGCTTTAAATAGACATATTTATTTGGTAGTAAAGATATGGAAATCATTGCAAATATCTCAAAGGCTTTAGGATACTGGCTCTCTGAAAATAAGACAAAG... | GGGCCAGGATCAGTCCTTGCATTCTTTCCGCAAGGAGGATATAATTAGTACCTAAATAACAGGTTTTTTTTTGGTAAAATATAGCTACTTACTGGGTTCTCTGGCTTATATGAATCAGAGAAGATCTAAAAGATGAAAATGTATATTTCTAAAGTATACCAAAACAACAAAAATAAAAAGGCAAAACCATACCCATTTTCATACTTAAGATAATAAAGAACTGCTTTAAATAGACATATTTATTTGGTAGTAAAGATATGGAAATCATTGCAAATATCTCAAAGGCTTTAGGATACTGGCTCTCTGAAAATAAGACAAAG... | pathogenic | 86,627 |
Considering the genetic mutation at chromosome 4, position 127943973, impacting MFSD8 (major facilitator superfamily domain containing 8): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Neuronal_ceroid_lipofuscinosis_7'] | AATTAGCTTTCCTCCCTTTCCCTTCAGCTATGAGTTTTTATACTTGGGTTACACTGAATATTTAAGCCTCAAAAGTTTTCCCAATTCAAATTCAAGTAATGACATGTGAAGAACACCTACCTGGACCTAGAATAAAACCTAATGCTTGACACATGCTTATGTTTGCCATGGAACTTGTTCTTTCCTGAAGGGAAGTAGCACCAGCAGTATATGATCTAACAACTGCTACATTTCCTTAAAAACAAGACACAATAATCCAAAGTAAAAGAAAGTATCATTCAGCTTATAAAATTCAATCCAATTTGACTTTATACAGAAGA... | AATTAGCTTTCCTCCCTTTCCCTTCAGCTATGAGTTTTTATACTTGGGTTACACTGAATATTTAAGCCTCAAAAGTTTTCCCAATTCAAATTCAAGTAATGACATGTGAAGAACACCTACCTGGACCTAGAATAAAACCTAATGCTTGACACATGCTTATGTTTGCCATGGAACTTGTTCTTTCCTGAAGGGAAGTAGCACCAGCAGTATATGATCTAACAACTGCTACATTTCCTTAAAAACAAGACACAATAATCCAAAGTAAAAGAAAGTATCATTCAGCTTATAAAATTCAATCCAATTTGACTTTATACAGAAGA... | pathogenic | 86,639 |
Is the genetic change at chromosome 4, position 127957607, within gene MFSD8 (major facilitator superfamily domain containing 8) benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATGTGGTATATACTGAAGGCAATCAGAGTATGCTACTCCAAAAATCTGCTGTTTTGCCATATTAATTATCTCAAACTGAAGGCAACCGAGAAATAGCAGATGCAGGAAGGGTTCTCTGCTCTCCCCCTTTCTGCCTGAATGCAGAGAATAGATTGAATTTTGTTTTGTTGTTAATTCTTTGAGGCACAATTGAGATTCTGTTACCTACAATCTGTCTTGGGACATTAAGACACAGGTATAATTAAGACTGTATATTTAAACTTAAGAAATTTTGCACTGGCCAGGCGGGGTGGCTCACGCCTGTAATCCCAGCACTTTGG... | ATGTGGTATATACTGAAGGCAATCAGAGTATGCTACTCCAAAAATCTGCTGTTTTGCCATATTAATTATCTCAAACTGAAGGCAACCGAGAAATAGCAGATGCAGGAAGGGTTCTCTGCTCTCCCCCTTTCTGCCTGAATGCAGAGAATAGATTGAATTTTGTTTTGTTGTTAATTCTTTGAGGCACAATTGAGATTCTGTTACCTACAATCTGTCTTGGGACATTAAGACACAGGTATAATTAAGACTGTATATTTAAACTTAAGAAATTTTGCACTGGCCAGGCGGGGTGGCTCACGCCTGTAATCCCAGCACTTTGG... | benign | 86,654 |
Is the variant located on chromosome 4 at position 139336932, gene NAA15 (N-alpha-acetyltransferase 15, NatA auxiliary subunit), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Intellectual_disability,_autosomal_dominant_50'] | AGAGTAGTAATTCTCCATTAGATTCCTTGCCTTTTTTTTGGCCTATCTTTATAATCTCACTTTCTTTCACTGTGTTTCACTTTATACTTTCTTTTACTGTAATTGTTTGGAGATGGAAAACAATGGAGATAAAAGTATTTAAATTTATCTCTCTGCTGGGTGCTGGGGCTCACTCCTAATGATCCCAACCCTTTGGGAGACTGAGGCAGGAGGATTGCTTGAGGCCAGAAATTCAAGATCAGCCTGGGCAACATAGCGGGACCTTGTCTTTATTATGACAAAACATATATTTAAAAAAACAAGTAAATAGAAATAAATTT... | AGAGTAGTAATTCTCCATTAGATTCCTTGCCTTTTTTTTGGCCTATCTTTATAATCTCACTTTCTTTCACTGTGTTTCACTTTATACTTTCTTTTACTGTAATTGTTTGGAGATGGAAAACAATGGAGATAAAAGTATTTAAATTTATCTCTCTGCTGGGTGCTGGGGCTCACTCCTAATGATCCCAACCCTTTGGGAGACTGAGGCAGGAGGATTGCTTGAGGCCAGAAATTCAAGATCAGCCTGGGCAACATAGCGGGACCTTGTCTTTATTATGACAAAACATATATTTAAAAAAACAAGTAAATAGAAATAAATTT... | pathogenic | 86,691 |
A genetic alteration at chromosome 4, position 139336946, in gene NAA15 (N-alpha-acetyltransferase 15, NatA auxiliary subunit)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Global_developmental_delay', 'Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_dominant_50', 'NAA15-related_disorder'] | CCATTAGATTCCTTGCCTTTTTTTTGGCCTATCTTTATAATCTCACTTTCTTTCACTGTGTTTCACTTTATACTTTCTTTTACTGTAATTGTTTGGAGATGGAAAACAATGGAGATAAAAGTATTTAAATTTATCTCTCTGCTGGGTGCTGGGGCTCACTCCTAATGATCCCAACCCTTTGGGAGACTGAGGCAGGAGGATTGCTTGAGGCCAGAAATTCAAGATCAGCCTGGGCAACATAGCGGGACCTTGTCTTTATTATGACAAAACATATATTTAAAAAAACAAGTAAATAGAAATAAATTTATCTCTCTTTTTCC... | CCATTAGATTCCTTGCCTTTTTTTTGGCCTATCTTTATAATCTCACTTTCTTTCACTGTGTTTCACTTTATACTTTCTTTTACTGTAATTGTTTGGAGATGGAAAACAATGGAGATAAAAGTATTTAAATTTATCTCTCTGCTGGGTGCTGGGGCTCACTCCTAATGATCCCAACCCTTTGGGAGACTGAGGCAGGAGGATTGCTTGAGGCCAGAAATTCAAGATCAGCCTGGGCAACATAGCGGGACCTTGTCTTTATTATGACAAAACATATATTTAAAAAAACAAGTAAATAGAAATAAATTTATCTCTCTTTTTCC... | pathogenic | 86,692 |
Variant at chromosome 4, position 139351602, gene NAA15 (N-alpha-acetyltransferase 15, NatA auxiliary subunit): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_dominant_50'] | AAAGGCTTGGAAAAAGCACTCAAGCCAGGTAGTATTGTTTAAAACTTACTAAGTTTTATTGTTTCTTTTGTTAATATATATTTTATTTACTCATTGAAAAGCACAACTAGAATAATAGTGGTTAAGAATTGGTTCGAAATCTGAATACAGGCCAAGCGCAGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCTGGCATGGTGATGTGTGCCTTGTAGTCTCAGC... | AAAGGCTTGGAAAAAGCACTCAAGCCAGGTAGTATTGTTTAAAACTTACTAAGTTTTATTGTTTCTTTTGTTAATATATATTTTATTTACTCATTGAAAAGCACAACTAGAATAATAGTGGTTAAGAATTGGTTCGAAATCTGAATACAGGCCAAGCGCAGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCTGGCATGGTGATGTGTGCCTTGTAGTCTCAGC... | pathogenic | 86,703 |
Evaluate the clinical significance of the mutation at chromosome 4, position 139357377 in gene NAA15 (N-alpha-acetyltransferase 15, NatA auxiliary subunit): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TCTCTTAAACTCTTTTTATCTTTTGGGTTTCTGTCCTATCCCTTTTCCTGCAATTTATTTGTTGAAGAAATTTTTTTATTTTTTTTTTCAGTTTTCCCAGTCTAGAGTTTGCTGACTGTACCCCATGTGTTGCTTAACACATTATTCCTTGCTCTCTGAATTTCCTATAAACTGGTAGTTCAGTGTAGAAGTTTGTTGCTAGTATGATAGCCAGTAGCACAGTGGCTAATTAAAATTTTAAAAAATTAAATAAAATAAATTCCATTCCTTGGTTGCAGTAGCCACATTTTAAGTGCTGCTCAATAGCTATATATAGCTAA... | TCTCTTAAACTCTTTTTATCTTTTGGGTTTCTGTCCTATCCCTTTTCCTGCAATTTATTTGTTGAAGAAATTTTTTTATTTTTTTTTTCAGTTTTCCCAGTCTAGAGTTTGCTGACTGTACCCCATGTGTTGCTTAACACATTATTCCTTGCTCTCTGAATTTCCTATAAACTGGTAGTTCAGTGTAGAAGTTTGTTGCTAGTATGATAGCCAGTAGCACAGTGGCTAATTAAAATTTTAAAAAATTAAATAAAATAAATTCCATTCCTTGGTTGCAGTAGCCACATTTTAAGTGCTGCTCAATAGCTATATATAGCTAA... | benign | 86,705 |
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