question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
A genetic alteration at chromosome 11, position 66519691, in gene BBS1 (Bardet-Biedl syndrome 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | TTTTTAGTAGAGATGGTGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCACGCCCATCTTATTTATTTATTTATTTTTTTAAGAGATGGGGTCTCACCATGTTGCCCAGACTGGTCTCAAACTCCTGATCTAAAGTGATCCTCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTTATTTAGCCTATATTCATATATTTTTAAAACTAGGATTATACTAACGTCACTTTTTTTTTTCTTTTC... | TTTTTAGTAGAGATGGTGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCACGCCCATCTTATTTATTTATTTATTTTTTTAAGAGATGGGGTCTCACCATGTTGCCCAGACTGGTCTCAAACTCCTGATCTAAAGTGATCCTCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTTATTTAGCCTATATTCATATATTTTTAAAACTAGGATTATACTAACGTCACTTTTTTTTTTCTTTTC... | pathogenic | 178,872 |
Regarding the variant found on chromosome 11 at position 66521261 in gene BBS1: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['BBS1-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1', 'Retinal_dystrophy'] | ATACAAAAAGTAGCTGGGCACGGTGGCGTGCGCCTGTAATCCCAGCTAGTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTC... | ATACAAAAAGTAGCTGGGCACGGTGGCGTGCGCCTGTAATCCCAGCTAGTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTC... | pathogenic | 178,881 |
Is the genetic variant on chromosome 11, position 66521297, gene BBS1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bardet-Biedl_syndrome_1'] | TAATCCCAGCTAGTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGG... | TAATCCCAGCTAGTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGG... | pathogenic | 178,884 |
Is the genetic variant on chromosome 11, position 66521329, gene BBS1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | GAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCC... | GAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCC... | pathogenic | 178,885 |
Gene mutation in BBS1 at chromosome 11, position 66521386—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCATGACCACCTTGAAGAAGAACCTGGC... | TCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCATGACCACCTTGAAGAAGAACCTGGC... | benign | 178,886 |
Considering the variant on chromosome 11, location 66523475, involving gene BBS1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['BBS1-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | GTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAA... | GTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAA... | pathogenic | 178,888 |
Classify the chromosome 11 variant at position 66523511 affecting gene BBS1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1', 'Retinal_dystrophy'] | AAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTC... | AAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTC... | pathogenic | 178,891 |
Evaluate this variant at chromosome 11, position 66523750, gene BBS1: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | TCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTAACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGGTGCCGGGTGCATTGCCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAACGTGGGTGGATCATGAGGTCAGGAGATCCAGACCAT... | TCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTAACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGGTGCCGGGTGCATTGCCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAACGTGGGTGGATCATGAGGTCAGGAGATCCAGACCAT... | pathogenic | 178,897 |
Mutation at chromosome 11, position 66526137, within BBS1: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Retinal_dystrophy'] | AGCCAACATGGCATAACCCCCTTGCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGTACCTGTAATCCCAGCTACTCAGGAGGTTGAGGTAGGAGAATCGCTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCAAACCATGGCACTTCAGCCTGGACAACAGAGCGAGACTCCATCTTAAAAAAAAAAAAAATGTGTTGAGCACCTCATATGTACCAGTCACCATATTGGTAGGGGTGGGGGGTAAAATGATGACTAAGTCCTTGTTTTCAGGAGGCTTACAGTCTAAGGTAACAGCCAGCCAGAGA... | AGCCAACATGGCATAACCCCCTTGCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGTACCTGTAATCCCAGCTACTCAGGAGGTTGAGGTAGGAGAATCGCTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCAAACCATGGCACTTCAGCCTGGACAACAGAGCGAGACTCCATCTTAAAAAAAAAAAAAATGTGTTGAGCACCTCATATGTACCAGTCACCATATTGGTAGGGGTGGGGGGTAAAATGATGACTAAGTCCTTGTTTTCAGGAGGCTTACAGTCTAAGGTAACAGCCAGCCAGAGA... | pathogenic | 178,904 |
Is the chromosome 11, position 66526695 variant in BBS1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome', 'Retinitis_pigmentosa'] | AGGAATCCAGGTCATTTGATGAGTTTGGACCAGAGGTTTTCAGACTCTAAGTTGTGAATCATTAAATCAGTTTAGTAGATCACAACCAGCAACATTTTTAAAAATAGAATAGTAAATTCAAAGTATGTCACAAGTGAGGGCCAGGCACATTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGGCGATCACAGTTCTGGAACAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAACAAATTAGCCGGGTATGGGCCGGGCACGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCC... | AGGAATCCAGGTCATTTGATGAGTTTGGACCAGAGGTTTTCAGACTCTAAGTTGTGAATCATTAAATCAGTTTAGTAGATCACAACCAGCAACATTTTTAAAAATAGAATAGTAAATTCAAAGTATGTCACAAGTGAGGGCCAGGCACATTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGGCGATCACAGTTCTGGAACAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAACAAATTAGCCGGGTATGGGCCGGGCACGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCC... | pathogenic | 178,909 |
The mutation in gene BBS1 at chromosome 11, position 66529855—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | TCTGCCTGGGAAGCTTGGGAAAGGCTTCAGAGCGAGGTGACTTTGGGCTTCACCCTAAAAGATGATAGCCAGACCCCCAGACAGGGCAGGGCAGGGTAATATAGGCAGAGGCACAGGGTGTTGACCTGGATTCAAGAAAGCAGGCCCGGTTCGGTGGCTCATGCCTATAATCCCAGCTCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCCTTGCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACACGCCTGTAATCTCCTTAGGCAGGAG... | TCTGCCTGGGAAGCTTGGGAAAGGCTTCAGAGCGAGGTGACTTTGGGCTTCACCCTAAAAGATGATAGCCAGACCCCCAGACAGGGCAGGGCAGGGTAATATAGGCAGAGGCACAGGGTGTTGACCTGGATTCAAGAAAGCAGGCCCGGTTCGGTGGCTCATGCCTATAATCCCAGCTCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCCTTGCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACACGCCTGTAATCTCCTTAGGCAGGAG... | pathogenic | 178,917 |
Does the genetic variant at chromosome 11, position 66530933, impacting gene BBS1, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['BBS1-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | TTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAAAATCAGACCTTTTCTTCATACCAGCCACAAAAATTAATTCTGGATAGATTAAAAATAAATTGTAAAAGTACTAGAGAAAAAGCACATAAAATGTGAAACTCTTGAATGGCAGAAGCCACTTCACACATAAACGGAAGAGCGAAGCCAGCCTGGGGGACCGAGGTGCCCAGTCTGGAAGAGGAGGGACAGTGGGGTGGGGGCGGGGTGG... | TTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAAAATCAGACCTTTTCTTCATACCAGCCACAAAAATTAATTCTGGATAGATTAAAAATAAATTGTAAAAGTACTAGAGAAAAAGCACATAAAATGTGAAACTCTTGAATGGCAGAAGCCACTTCACACATAAACGGAAGAGCGAAGCCAGCCTGGGGGACCGAGGTGCCCAGTCTGGAAGAGGAGGGACAGTGGGGTGGGGGCGGGGTGG... | pathogenic | 178,927 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 66530982, gene BBS1. What disease(s) is it linked to if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | CTCCAGCCTGGGTAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAAAATCAGACCTTTTCTTCATACCAGCCACAAAAATTAATTCTGGATAGATTAAAAATAAATTGTAAAAGTACTAGAGAAAAAGCACATAAAATGTGAAACTCTTGAATGGCAGAAGCCACTTCACACATAAACGGAAGAGCGAAGCCAGCCTGGGGGACCGAGGTGCCCAGTCTGGAAGAGGAGGGACAGTGGGGTGGGGGCGGGGTGGGCCCTGGAGGTGGCTTGGGGAAGAGTCATGTGATCCTGCAAACGGTGAG... | CTCCAGCCTGGGTAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAAAATCAGACCTTTTCTTCATACCAGCCACAAAAATTAATTCTGGATAGATTAAAAATAAATTGTAAAAGTACTAGAGAAAAAGCACATAAAATGTGAAACTCTTGAATGGCAGAAGCCACTTCACACATAAACGGAAGAGCGAAGCCAGCCTGGGGGACCGAGGTGCCCAGTCTGGAAGAGGAGGGACAGTGGGGTGGGGGCGGGGTGGGCCCTGGAGGTGGCTTGGGGAAGAGTCATGTGATCCTGCAAACGGTGAG... | pathogenic | 178,929 |
Variant chromosome 11, position 66530987, gene BBS1: benign or pathogenic? Disease(s)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | GCCTGGGTAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAAAATCAGACCTTTTCTTCATACCAGCCACAAAAATTAATTCTGGATAGATTAAAAATAAATTGTAAAAGTACTAGAGAAAAAGCACATAAAATGTGAAACTCTTGAATGGCAGAAGCCACTTCACACATAAACGGAAGAGCGAAGCCAGCCTGGGGGACCGAGGTGCCCAGTCTGGAAGAGGAGGGACAGTGGGGTGGGGGCGGGGTGGGCCCTGGAGGTGGCTTGGGGAAGAGTCATGTGATCCTGCAAACGGTGAGATGTG... | GCCTGGGTAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAAAATCAGACCTTTTCTTCATACCAGCCACAAAAATTAATTCTGGATAGATTAAAAATAAATTGTAAAAGTACTAGAGAAAAAGCACATAAAATGTGAAACTCTTGAATGGCAGAAGCCACTTCACACATAAACGGAAGAGCGAAGCCAGCCTGGGGGACCGAGGTGCCCAGTCTGGAAGAGGAGGGACAGTGGGGTGGGGGCGGGGTGGGCCCTGGAGGTGGCTTGGGGAAGAGTCATGTGATCCTGCAAACGGTGAGATGTG... | pathogenic | 178,930 |
Does the genetic variant at chromosome 11, position 66531658, impacting gene BBS1, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome'] | AGAGAGTGAGAAGAGGCAGGGCGAGGCCACGGCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAG... | AGAGAGTGAGAAGAGGCAGGGCGAGGCCACGGCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAG... | pathogenic | 178,935 |
Is the chromosome 11, position 66531684 variant in BBS1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | CCACGGCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTG... | CCACGGCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTG... | pathogenic | 178,936 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 66531689, gene BBS1. What disease(s) is it linked to if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | GCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCAT... | GCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCAT... | pathogenic | 178,937 |
A genetic variant on chromosome 11, position 66565712, affects the gene CTSF (cathepsin F). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Neuronal_ceroid_lipofuscinosis'] | CCAGCTTCAACTGCCAAGATACCACCCTTCACCCCGACATCCTCCTAAGCTACCACAATTCAACAAAGGTGCAGGTGCAGAACTTCAGGGTGGGAATGGGGTGCAGGGAAGCAGGGGCTGTGCCCCAGCCCAGTGCCCTCTGCTCACCCTGAGGTACCCAGTGCCTTTCCCTCTGCCAGCTGTACCTCCCGGGGAGGGGCCTGGACACATGTCAGGCTGGGGCAGCAGCCACTCTGATCAGCACCAGGTCCCGAGCTGGGGGCCCCTCTTCAGTCCACCACCGCCGAGCTGGCCATGGTGTTCACGCCACAGGCCCCGGA... | CCAGCTTCAACTGCCAAGATACCACCCTTCACCCCGACATCCTCCTAAGCTACCACAATTCAACAAAGGTGCAGGTGCAGAACTTCAGGGTGGGAATGGGGTGCAGGGAAGCAGGGGCTGTGCCCCAGCCCAGTGCCCTCTGCTCACCCTGAGGTACCCAGTGCCTTTCCCTCTGCCAGCTGTACCTCCCGGGGAGGGGCCTGGACACATGTCAGGCTGGGGCAGCAGCCACTCTGATCAGCACCAGGTCCCGAGCTGGGGGCCCCTCTTCAGTCCACCACCGCCGAGCTGGCCATGGTGTTCACGCCACAGGCCCCGGA... | pathogenic | 178,964 |
Evaluate the clinical significance of the mutation at chromosome 11, position 66689137 in gene SPTBN2 (spectrin beta, non-erythrocytic 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_14'] | TCCCGCGCTGGCTGCCTTGGCATCCTTGTAAAAGCCGAGGCTCCCACGCCGCAGGACACAGTACACGTTCTGCCAGGACCTGCGAGGGACGCGGTGCTGACTGGCCGGCCTCAGTGGCGCCCGCAACCTGGAGCCCTCTTGGGTGTCCTAGGACTTCCAGTTCTGCTCCCATCTTTAGGCCACGGTCTTCACACCCTCTGGTCCTCCCCTGAGGCCCCGCTCTGGTCCCAAGTCCTACCCTTTGCCCAGAAGATGTACTCTAAAGGGCATCCCTCCCTCTATCTGGGCAGAGGCTCTGGGGAAGTGCCCTCTGAGAGCAG... | TCCCGCGCTGGCTGCCTTGGCATCCTTGTAAAAGCCGAGGCTCCCACGCCGCAGGACACAGTACACGTTCTGCCAGGACCTGCGAGGGACGCGGTGCTGACTGGCCGGCCTCAGTGGCGCCCGCAACCTGGAGCCCTCTTGGGTGTCCTAGGACTTCCAGTTCTGCTCCCATCTTTAGGCCACGGTCTTCACACCCTCTGGTCCTCCCCTGAGGCCCCGCTCTGGTCCCAAGTCCTACCCTTTGCCCAGAAGATGTACTCTAAAGGGCATCCCTCCCTCTATCTGGGCAGAGGCTCTGGGGAAGTGCCCTCTGAGAGCAG... | pathogenic | 179,002 |
A genetic alteration at chromosome 11, position 66707534, in gene SPTBN2 (spectrin beta, non-erythrocytic 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Spinocerebellar_ataxia_type_5'] | GAGGGTCAGAGCCTTAACCCAGCCCTCCGGCTGCTCCCTGCCACCACACTCTCTTGGACTTCCCTCCCTGGCTTTAGCTCAGTCACCATCGTTTGGCCACCATCTTTCCCGTCCCCAGGTTTCCCAACCCTTCCACCTCGGCTCTTGATGTGCTCCTTCCCAGCCCCTCCCTCTCCAGTGCCTTCGCTGACTTCTCACCTTTCCCTGGGTTGCAGAAGCGCAGGGCAGAGGCGCTGACGGCCCGCACCCTCTCGGCCTGCACGGCGATGTCTGCCTCCACCAGCTCGTGCAGCTGCAGCAGGTCCTCCACTCCTGCTAGG... | GAGGGTCAGAGCCTTAACCCAGCCCTCCGGCTGCTCCCTGCCACCACACTCTCTTGGACTTCCCTCCCTGGCTTTAGCTCAGTCACCATCGTTTGGCCACCATCTTTCCCGTCCCCAGGTTTCCCAACCCTTCCACCTCGGCTCTTGATGTGCTCCTTCCCAGCCCCTCCCTCTCCAGTGCCTTCGCTGACTTCTCACCTTTCCCTGGGTTGCAGAAGCGCAGGGCAGAGGCGCTGACGGCCCGCACCCTCTCGGCCTGCACGGCGATGTCTGCCTCCACCAGCTCGTGCAGCTGCAGCAGGTCCTCCACTCCTGCTAGG... | pathogenic | 179,077 |
Clinical classification of chromosome 11, position 66849025, gene PC (pyruvate carboxylase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Pyruvate_carboxylase_deficiency'] | CCATAAGTAGAGGCTTTTCTGGTTCTCTCCACCTCTGACCTCTGCCCCAGAGGAACCCAGAACACAGGCTGCAGCCCTGAGGGCAGCAGGGACTTTGCCAAGCAACACAGTGACTCCAGGGTCCTTCTCGGCACCTGCAAGTGTTCTGCCTGCTCTCCATCATTTTTGGAAGGGCTCTCGTTTCCCTGCCTGTGCTCTTTTAAAATTAGATTCCTGAAAGAGTATTAGCCCTGGATTACTTGAGGTCAGGAGTCCGAGACCAGCCTGACCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCAT... | CCATAAGTAGAGGCTTTTCTGGTTCTCTCCACCTCTGACCTCTGCCCCAGAGGAACCCAGAACACAGGCTGCAGCCCTGAGGGCAGCAGGGACTTTGCCAAGCAACACAGTGACTCCAGGGTCCTTCTCGGCACCTGCAAGTGTTCTGCCTGCTCTCCATCATTTTTGGAAGGGCTCTCGTTTCCCTGCCTGTGCTCTTTTAAAATTAGATTCCTGAAAGAGTATTAGCCCTGGATTACTTGAGGTCAGGAGTCCGAGACCAGCCTGACCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCAT... | pathogenic | 179,114 |
The mutation in gene PC (pyruvate carboxylase) at chromosome 11, position 66849048—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Pyruvate_carboxylase_deficiency'] | TCTCTCCACCTCTGACCTCTGCCCCAGAGGAACCCAGAACACAGGCTGCAGCCCTGAGGGCAGCAGGGACTTTGCCAAGCAACACAGTGACTCCAGGGTCCTTCTCGGCACCTGCAAGTGTTCTGCCTGCTCTCCATCATTTTTGGAAGGGCTCTCGTTTCCCTGCCTGTGCTCTTTTAAAATTAGATTCCTGAAAGAGTATTAGCCCTGGATTACTTGAGGTCAGGAGTCCGAGACCAGCCTGACCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGGCGGGGCGTGGTGGCAGGAGG... | TCTCTCCACCTCTGACCTCTGCCCCAGAGGAACCCAGAACACAGGCTGCAGCCCTGAGGGCAGCAGGGACTTTGCCAAGCAACACAGTGACTCCAGGGTCCTTCTCGGCACCTGCAAGTGTTCTGCCTGCTCTCCATCATTTTTGGAAGGGCTCTCGTTTCCCTGCCTGTGCTCTTTTAAAATTAGATTCCTGAAAGAGTATTAGCCCTGGATTACTTGAGGTCAGGAGTCCGAGACCAGCCTGACCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGGCGGGGCGTGGTGGCAGGAGG... | pathogenic | 179,115 |
Does the variant on chromosome 11 at location 66849073 affecting gene PC (pyruvate carboxylase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Pyruvate_carboxylase_deficiency'] | AGAGGAACCCAGAACACAGGCTGCAGCCCTGAGGGCAGCAGGGACTTTGCCAAGCAACACAGTGACTCCAGGGTCCTTCTCGGCACCTGCAAGTGTTCTGCCTGCTCTCCATCATTTTTGGAAGGGCTCTCGTTTCCCTGCCTGTGCTCTTTTAAAATTAGATTCCTGAAAGAGTATTAGCCCTGGATTACTTGAGGTCAGGAGTCCGAGACCAGCCTGACCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGGCGGGGCGTGGTGGCAGGAGGCTAAGGCAGGACAATCACTTGAACC... | AGAGGAACCCAGAACACAGGCTGCAGCCCTGAGGGCAGCAGGGACTTTGCCAAGCAACACAGTGACTCCAGGGTCCTTCTCGGCACCTGCAAGTGTTCTGCCTGCTCTCCATCATTTTTGGAAGGGCTCTCGTTTCCCTGCCTGTGCTCTTTTAAAATTAGATTCCTGAAAGAGTATTAGCCCTGGATTACTTGAGGTCAGGAGTCCGAGACCAGCCTGACCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGGCGGGGCGTGGTGGCAGGAGGCTAAGGCAGGACAATCACTTGAACC... | pathogenic | 179,116 |
For chromosome 11, position 66849668, gene PC (pyruvate carboxylase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Pyruvate_carboxylase_deficiency'] | CTGCCTCCTGGGGTACATCTAGGACATGGCGGTCCAGAAAGGAAGAGGCTCAAGCCCACTGTGAGTTGCCCATCCCAGAGGTTGGACTGGCTCTGGGAGCACTGGGCAGAGGCCTGCTGGGTGCTTCCCATCCAGAGGCTGATTTCCTGCATCGGCCTCCCCACACCCACCCCTCCATCTCAGGAACTGCCCAGCCTCCTGCTCCCTTCACCATCCTCTCCCTACCTGTGGGCAGGTGGGCAGGAGGGCAGTGGTGCAGGCAGGGTTACTGTCCCCACTGCAGGAAAGGGAACTGAGCAGGAGTCTGGAGGGGTGGTCAT... | CTGCCTCCTGGGGTACATCTAGGACATGGCGGTCCAGAAAGGAAGAGGCTCAAGCCCACTGTGAGTTGCCCATCCCAGAGGTTGGACTGGCTCTGGGAGCACTGGGCAGAGGCCTGCTGGGTGCTTCCCATCCAGAGGCTGATTTCCTGCATCGGCCTCCCCACACCCACCCCTCCATCTCAGGAACTGCCCAGCCTCCTGCTCCCTTCACCATCCTCTCCCTACCTGTGGGCAGGTGGGCAGGAGGGCAGTGGTGCAGGCAGGGTTACTGTCCCCACTGCAGGAAAGGGAACTGAGCAGGAGTCTGGAGGGGTGGTCAT... | pathogenic | 179,126 |
The mutation impacting PC (pyruvate carboxylase) on chromosome 11 at position 66850443: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Pyruvate_carboxylase_deficiency'] | CACGATGGTCATTCTCACTACCCTCTGAGGAGAACGACACAACTGACCTGCCCACCCATGGGGAGCTTGAAAGGCAGCCCCCCACTGCTGAGTGGTGCAGGCTGGGGGCTGCACAGGATCCAGCATGGAGGGCAGGGGAAAGCCAGCTTTATTGAGTAAACTTCCCAGGACCTGGGACATCTTAGATCTCCCCTTCCCCCAGGAGATAGGACCCCTAAACCTCCCCTGGGTCCTAGGACCACCTGACCCACCACTTGTAGTCTCCAGTGAGGAGGGGACCCTTATTTGGCAAGAGATGAACATGTAAGCAGCTGTCCGCC... | CACGATGGTCATTCTCACTACCCTCTGAGGAGAACGACACAACTGACCTGCCCACCCATGGGGAGCTTGAAAGGCAGCCCCCCACTGCTGAGTGGTGCAGGCTGGGGGCTGCACAGGATCCAGCATGGAGGGCAGGGGAAAGCCAGCTTTATTGAGTAAACTTCCCAGGACCTGGGACATCTTAGATCTCCCCTTCCCCCAGGAGATAGGACCCCTAAACCTCCCCTGGGTCCTAGGACCACCTGACCCACCACTTGTAGTCTCCAGTGAGGAGGGGACCCTTATTTGGCAAGAGATGAACATGTAAGCAGCTGTCCGCC... | pathogenic | 179,138 |
Clinically, how would you classify the variant at chromosome 11, position 66850668, gene PC (pyruvate carboxylase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Pyruvate_carboxylase_deficiency'] | CTGGGTCCTAGGACCACCTGACCCACCACTTGTAGTCTCCAGTGAGGAGGGGACCCTTATTTGGCAAGAGATGAACATGTAAGCAGCTGTCCGCCGGAGGAAAGGACGATGGCTGAAAGGAATGAACCACCGCAGGCGGTGTCTCTCCTGTCCAGCTGTGGACAGGACCTCCACGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCA... | CTGGGTCCTAGGACCACCTGACCCACCACTTGTAGTCTCCAGTGAGGAGGGGACCCTTATTTGGCAAGAGATGAACATGTAAGCAGCTGTCCGCCGGAGGAAAGGACGATGGCTGAAAGGAATGAACCACCGCAGGCGGTGTCTCTCCTGTCCAGCTGTGGACAGGACCTCCACGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCA... | pathogenic | 179,140 |
Gene PC (pyruvate carboxylase) variant at chromosome position 66851791 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Pyruvate_carboxylase_deficiency'] | TTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCC... | TTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCC... | pathogenic | 179,153 |
Benign or pathogenic: chromosome 11, position 66852535, gene PC (pyruvate carboxylase) variant? Disease(s) if pathogenic? | pathogenic; ['Pyruvate_carboxylase_deficiency'] | GGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGC... | GGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGC... | pathogenic | 179,159 |
Is the genetic variant on chromosome 11, position 66868959, gene PC (pyruvate carboxylase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Pyruvate_carboxylase_deficiency'] | GGGTCAGGACCTGTCCTTCTGAGGCCTGTTTTCCTGCTGGACTTGTGCCCAAAACCCCCTAGAGATGCTTGGAGAGTGCAAGCTTCCCCACCTCTGCAGGGTTTTCCAAGCTCAGCCTTACTGCTCCTAAGGGCAGTCACAAGTCCAAGTGGAACAGCTGTTTAAAAAACAAAACAAACAAACAAAAAAACCAGGCTGGGCACAGCAGGTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGAATCCCACGAGGCCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATA... | GGGTCAGGACCTGTCCTTCTGAGGCCTGTTTTCCTGCTGGACTTGTGCCCAAAACCCCCTAGAGATGCTTGGAGAGTGCAAGCTTCCCCACCTCTGCAGGGTTTTCCAAGCTCAGCCTTACTGCTCCTAAGGGCAGTCACAAGTCCAAGTGGAACAGCTGTTTAAAAAACAAAACAAACAAACAAAAAAACCAGGCTGGGCACAGCAGGTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGAATCCCACGAGGCCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATA... | pathogenic | 179,185 |
A mutation at chromosome position 67365147 on chromosome 11 in gene CLCF1: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GTGGACAGAGACAGGCAGGAGTCCTGGGGAAGCTGGGGAGTGAAGCCCAGGGGCTGACTGCTCAGGGTAGAGCACCAGAAGCACAGATGAATAGCTTTGCTCATCATAAGGAGGCTGGGCCAGAGGGCAGAAATAGAAATTCAAGGTGGGAAGACAGACCTGTGAGACCATTAATGCAATCCAGGAAGGTGAGGCTGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAA... | GTGGACAGAGACAGGCAGGAGTCCTGGGGAAGCTGGGGAGTGAAGCCCAGGGGCTGACTGCTCAGGGTAGAGCACCAGAAGCACAGATGAATAGCTTTGCTCATCATAAGGAGGCTGGGCCAGAGGGCAGAAATAGAAATTCAAGGTGGGAAGACAGACCTGTGAGACCATTAATGCAATCCAGGAAGGTGAGGCTGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAA... | benign | 179,211 |
The chromosome 11, position 67455483 genetic variant in gene CABP4 (calcium binding protein 4): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cone-rod_synaptic_disorder,_congenital_nonprogressive', 'Retinal_dystrophy'] | CCCAGCACTTTGGGAGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTGGCTGGCCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCAAGATCGTGCCATCGCACTCCAGCCTGAGTAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAGTATTCTAGTGGAACTCCTATATGGACTAAAAGGGGGTGCTCAAATTAAGGGAGGGAAGAGTACCCCTACCCCC... | CCCAGCACTTTGGGAGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTGGCTGGCCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCAAGATCGTGCCATCGCACTCCAGCCTGAGTAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAGTATTCTAGTGGAACTCCTATATGGACTAAAAGGGGGTGCTCAAATTAAGGGAGGGAAGAGTACCCCTACCCCC... | pathogenic | 179,216 |
Is the genetic change at chromosome 11, position 67455504, within gene CABP4 (calcium binding protein 4) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cone-rod_synaptic_disorder,_congenital_nonprogressive'] | CCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTGGCTGGCCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCAAGATCGTGCCATCGCACTCCAGCCTGAGTAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAGTATTCTAGTGGAACTCCTATATGGACTAAAAGGGGGTGCTCAAATTAAGGGAGGGAAGAGTACCCCTACCCCCCAGGGTTCCAGGGAACACAGT... | CCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTGGCTGGCCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCAAGATCGTGCCATCGCACTCCAGCCTGAGTAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAGTATTCTAGTGGAACTCCTATATGGACTAAAAGGGGGTGCTCAAATTAAGGGAGGGAAGAGTACCCCTACCCCCCAGGGTTCCAGGGAACACAGT... | pathogenic | 179,217 |
Chromosome 11, position 67456355, gene CABP4 (calcium binding protein 4): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic | TGCCCTGAAGGGCTGGCCCCTGCCCACGGCCCACGGCTCCAGCCACTTGGCCTTTAGTTTGGTGCCCTCCGTACCCTCAGGGTTCCTCCTCAGGCTGACCCCCTCTGCTGTCTCCATTCCCTATTGGATCAGAGCCCCAGGCACCCCGAGACTGGGGCCCTGACCAGTGAGGCCTGGCTTACCTGGGAGGCAGAGGCCGATGGGTGGAAGGAGCAGGAGCAGGGCGTGCCTGCCTGCCCAGCACTCCAGCTGTCCCCCCGGCCCTCACTGGGGCCTGCTTTGTGGCACCCGGCAGCGCTAAGGCGGGTGGGCAGGAAACC... | TGCCCTGAAGGGCTGGCCCCTGCCCACGGCCCACGGCTCCAGCCACTTGGCCTTTAGTTTGGTGCCCTCCGTACCCTCAGGGTTCCTCCTCAGGCTGACCCCCTCTGCTGTCTCCATTCCCTATTGGATCAGAGCCCCAGGCACCCCGAGACTGGGGCCCTGACCAGTGAGGCCTGGCTTACCTGGGAGGCAGAGGCCGATGGGTGGAAGGAGCAGGAGCAGGGCGTGCCTGCCTGCCCAGCACTCCAGCTGTCCCCCCGGCCCTCACTGGGGCCTGCTTTGTGGCACCCGGCAGCGCTAAGGCGGGTGGGCAGGAAACC... | pathogenic | 179,223 |
A genetic alteration at chromosome 11, position 67458628, in gene CABP4 (calcium binding protein 4)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cone-rod_synaptic_disorder,_congenital_nonprogressive'] | CGGGTTCAAGCTCCTGCCTCTCTGTGTGGGAAGGCAGGCCAGCAAGGCGGCCCGGAGACCCAGGAGAGCCCCTTGGGGCTCAGGTTGAGGACCCTGGCTCGGGATGTCTGTTGCCATGGCCACTATACACATTTGCTCCTTTCACCCGAGCCCTTCCTGCCTCGCTGGCCCAGAAGCCCCTGACTCAGTGATAAAGTGCTGTCCGCTGATACTAGTCACCTGGCACCTTCTCTCTTTCTCTCTCTTTCTGTGACCCTGCCTCAGCCCTGTGCCCTGGTGGCAGCTGCCTGAATTGGGGTCGCCCTGATGGGAGAGGACCC... | CGGGTTCAAGCTCCTGCCTCTCTGTGTGGGAAGGCAGGCCAGCAAGGCGGCCCGGAGACCCAGGAGAGCCCCTTGGGGCTCAGGTTGAGGACCCTGGCTCGGGATGTCTGTTGCCATGGCCACTATACACATTTGCTCCTTTCACCCGAGCCCTTCCTGCCTCGCTGGCCCAGAAGCCCCTGACTCAGTGATAAAGTGCTGTCCGCTGATACTAGTCACCTGGCACCTTCTCTCTTTCTCTCTCTTTCTGTGACCCTGCCTCAGCCCTGTGCCCTGGTGGCAGCTGCCTGAATTGGGGTCGCCCTGATGGGAGAGGACCC... | pathogenic | 179,237 |
A genetic variant on chromosome 11, position 67487001, affects the gene AIP. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TCAATTCCTTTTTTGCTCGGAGCCACTCAGTGGCTTCCATCACAGAGTGAAAAACAGAGGCCTCACCATAGCCTACAGGCCCTGTGAGGTCCACCCCTACTGACCTGGGTGAGCTCCCCTGCTGACCCTGTGGTGTACCCCACCCCCTCCTTCACTCTGCTCTGCCACACTGGCATTGCTGCTCTTGAACACATCATGCATTTGAAACGGGAAGTTCCCTTGTCTCCCTCGCAGGGCGTGCGATGGGGGAGTGGCTCGCTTCTTCAGTGCCCCGCTGCTCAGACCTCTGGGGGAGCATACAGATGGGCAGGCTGTGGGCT... | TCAATTCCTTTTTTGCTCGGAGCCACTCAGTGGCTTCCATCACAGAGTGAAAAACAGAGGCCTCACCATAGCCTACAGGCCCTGTGAGGTCCACCCCTACTGACCTGGGTGAGCTCCCCTGCTGACCCTGTGGTGTACCCCACCCCCTCCTTCACTCTGCTCTGCCACACTGGCATTGCTGCTCTTGAACACATCATGCATTTGAAACGGGAAGTTCCCTTGTCTCCCTCGCAGGGCGTGCGATGGGGGAGTGGCTCGCTTCTTCAGTGCCCCGCTGCTCAGACCTCTGGGGGAGCATACAGATGGGCAGGCTGTGGGCT... | benign | 179,263 |
Classify the chromosome 11 variant at position 67490802 affecting gene AIP (AHR interacting HSP90 co-chaperone) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Somatotroph_adenoma'] | GTGAGCCACCACATCCGGCCTCCCTGAGGGTTTTGAAGTGGCTGGCCTGGGCCCAGCTCTGAGGTAGGCCCTCAGTGGGGTGTGGGTGGGGCAGAAGGAGGAGCTGCTGGGAACAGAATGTGGGGGGCCCCAGTTCTTTGCATAGTCCAGCAAAGGGCCTTATCCTCTGGAGGGAGAGGAGGTAAGAATTCTACTGGGCCTGTAAGGACCAGGGAGACAGGGGTTGATGGTAGGCATGTGTCTGTGGTGGGGGTGAGGAGGGGGTTAGGTGCTCTGTTTGGTGGCCAGAGAATGTGGCAGAAGCTGGGGCTTCACCAGGA... | GTGAGCCACCACATCCGGCCTCCCTGAGGGTTTTGAAGTGGCTGGCCTGGGCCCAGCTCTGAGGTAGGCCCTCAGTGGGGTGTGGGTGGGGCAGAAGGAGGAGCTGCTGGGAACAGAATGTGGGGGGCCCCAGTTCTTTGCATAGTCCAGCAAAGGGCCTTATCCTCTGGAGGGAGAGGAGGTAAGAATTCTACTGGGCCTGTAAGGACCAGGGAGACAGGGGTTGATGGTAGGCATGTGTCTGTGGTGGGGGTGAGGAGGGGGTTAGGTGCTCTGTTTGGTGGCCAGAGAATGTGGCAGAAGCTGGGGCTTCACCAGGA... | pathogenic | 179,370 |
Clinically, how would you classify the variant at chromosome 11, position 67607054, gene NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic | GGTGGGGACCAGTGGGGGATTTGTTGTTAGGAGACCTCAGGCCGAGTTCTGGCAGTTGTGTCATCCTGGGCAGGCCACTCAGCAATGCTGATACCCTGCTTCTGAAAACAGGGCTCATCATTCCTGAGGCTGGAGTTTTGGAGGATTAAGGAGGTAACACATGGCAAGTGCTTGGCCCAGAGCCTGGCACTGAATGAACAGAGGATCCTTCCCTCACTCTCCGTTTTCCATCCCCCCTCATGCCCAGCATCTCCTGTCCCCAGCATCCCCAACCTGCATCTCCCTCAGCCTGTATTCCTTTGACCCAGTTAGAGACAGAT... | GGTGGGGACCAGTGGGGGATTTGTTGTTAGGAGACCTCAGGCCGAGTTCTGGCAGTTGTGTCATCCTGGGCAGGCCACTCAGCAATGCTGATACCCTGCTTCTGAAAACAGGGCTCATCATTCCTGAGGCTGGAGTTTTGGAGGATTAAGGAGGTAACACATGGCAAGTGCTTGGCCCAGAGCCTGGCACTGAATGAACAGAGGATCCTTCCCTCACTCTCCGTTTTCCATCCCCCCTCATGCCCAGCATCTCCTGTCCCCAGCATCCCCAACCTGCATCTCCCTCAGCCTGTATTCCTTTGACCCAGTTAGAGACAGAT... | pathogenic | 179,436 |
Chromosome 11, position 67611045, gene NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Leigh_syndrome'] | GAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCTTTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGGGCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCCACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAGCAGAGCCCCTGGGAC... | GAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCTTTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGGGCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCCACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAGCAGAGCCCCTGGGAC... | pathogenic | 179,471 |
Does the variant impacting NDUFV1 on chromosome 11, position 67612107, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGC... | TAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGC... | benign | 179,484 |
Is the genetic variant on chromosome 11, position 67612158, gene NDUFV1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Leigh_syndrome'] | ACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTT... | ACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTT... | pathogenic | 179,485 |
The chromosome 11, position 67991615 genetic variant in gene UNC93B1 (unc-93 homolog B1, TLR signaling regulator): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CATGGGAAATGCCCAGATAGGAAGAGCACAGCCAGGAGCCAAGCCCCTGAGTGGCCACTCCATGTGCCTGGATCACCTTCAAGTCTGCTCAACATCACAGCCTCTGTTCCTTGGCACCATGGACATTGGAATTGACTCGGAACTGGGAAGAGCTGTAGGCCCACTATCCAGGCACCTGCTCCCCGTTTGCCCAGCATCCCAGGGGCCCACACCCTTCCAAATATCACCTTGCCCTCCATTCAGAGGTGAATCATCTGAGCGTCAGGTTGCCCAACTCCGACTGGTTTTGCTGGAGCCTGCCTAGAGGATGTCGCCAGCCA... | CATGGGAAATGCCCAGATAGGAAGAGCACAGCCAGGAGCCAAGCCCCTGAGTGGCCACTCCATGTGCCTGGATCACCTTCAAGTCTGCTCAACATCACAGCCTCTGTTCCTTGGCACCATGGACATTGGAATTGACTCGGAACTGGGAAGAGCTGTAGGCCCACTATCCAGGCACCTGCTCCCCGTTTGCCCAGCATCCCAGGGGCCCACACCCTTCCAAATATCACCTTGCCCTCCATTCAGAGGTGAATCATCTGAGCGTCAGGTTGCCCAACTCCGACTGGTTTTGCTGGAGCCTGCCTAGAGGATGTCGCCAGCCA... | benign | 179,494 |
Chromosome 11, position 68042683, gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CCCCACCCCACATCGGCCTTGAGCAAGGCCCCGGGCCCTTCCCCGCCATTCTGTAGTTTCACTTTTGTTGGTTTCAACACCTGGAAGGCTGCGGCTGCTGCCGGGCGGCCCGGGCCTCAGGGGACAGCCCCCCCACAGCAGTGCTCCCTGGCTAGCCCCAGGGTACCCGGTGGAGATGCCCGCTCCTACCACTCAGCACATGCAGCTCCACAGGGAGCAGCGAGGGCTCCAGCCACCCCCGGGGCAGCCCTGGGCCTAAGTGCCTGGGCCAGTGGGGTCCTGTCTAGGGTGACGGCAGCCCGAGAGGAGGGAGGCCAGAG... | CCCCACCCCACATCGGCCTTGAGCAAGGCCCCGGGCCCTTCCCCGCCATTCTGTAGTTTCACTTTTGTTGGTTTCAACACCTGGAAGGCTGCGGCTGCTGCCGGGCGGCCCGGGCCTCAGGGGACAGCCCCCCCACAGCAGTGCTCCCTGGCTAGCCCCAGGGTACCCGGTGGAGATGCCCGCTCCTACCACTCAGCACATGCAGCTCCACAGGGAGCAGCGAGGGCTCCAGCCACCCCCGGGGCAGCCCTGGGCCTAAGTGCCTGGGCCAGTGGGGTCCTGTCTAGGGTGACGGCAGCCCGAGAGGAGGGAGGCCAGAG... | pathogenic | 179,543 |
Is the genetic mutation found on chromosome 11 at position 68042689, within the gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CCCACATCGGCCTTGAGCAAGGCCCCGGGCCCTTCCCCGCCATTCTGTAGTTTCACTTTTGTTGGTTTCAACACCTGGAAGGCTGCGGCTGCTGCCGGGCGGCCCGGGCCTCAGGGGACAGCCCCCCCACAGCAGTGCTCCCTGGCTAGCCCCAGGGTACCCGGTGGAGATGCCCGCTCCTACCACTCAGCACATGCAGCTCCACAGGGAGCAGCGAGGGCTCCAGCCACCCCCGGGGCAGCCCTGGGCCTAAGTGCCTGGGCCAGTGGGGTCCTGTCTAGGGTGACGGCAGCCCGAGAGGAGGGAGGCCAGAGTGAAGG... | CCCACATCGGCCTTGAGCAAGGCCCCGGGCCCTTCCCCGCCATTCTGTAGTTTCACTTTTGTTGGTTTCAACACCTGGAAGGCTGCGGCTGCTGCCGGGCGGCCCGGGCCTCAGGGGACAGCCCCCCCACAGCAGTGCTCCCTGGCTAGCCCCAGGGTACCCGGTGGAGATGCCCGCTCCTACCACTCAGCACATGCAGCTCCACAGGGAGCAGCGAGGGCTCCAGCCACCCCCGGGGCAGCCCTGGGCCTAAGTGCCTGGGCCAGTGGGGTCCTGTCTAGGGTGACGGCAGCCCGAGAGGAGGGAGGCCAGAGTGAAGG... | pathogenic | 179,544 |
Regarding the variant at chromosome 11 and position 68042747, affecting gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | TTGTTGGTTTCAACACCTGGAAGGCTGCGGCTGCTGCCGGGCGGCCCGGGCCTCAGGGGACAGCCCCCCCACAGCAGTGCTCCCTGGCTAGCCCCAGGGTACCCGGTGGAGATGCCCGCTCCTACCACTCAGCACATGCAGCTCCACAGGGAGCAGCGAGGGCTCCAGCCACCCCCGGGGCAGCCCTGGGCCTAAGTGCCTGGGCCAGTGGGGTCCTGTCTAGGGTGACGGCAGCCCGAGAGGAGGGAGGCCAGAGTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGG... | TTGTTGGTTTCAACACCTGGAAGGCTGCGGCTGCTGCCGGGCGGCCCGGGCCTCAGGGGACAGCCCCCCCACAGCAGTGCTCCCTGGCTAGCCCCAGGGTACCCGGTGGAGATGCCCGCTCCTACCACTCAGCACATGCAGCTCCACAGGGAGCAGCGAGGGCTCCAGCCACCCCCGGGGCAGCCCTGGGCCTAAGTGCCTGGGCCAGTGGGGTCCTGTCTAGGGTGACGGCAGCCCGAGAGGAGGGAGGCCAGAGTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGG... | pathogenic | 179,548 |
Does the variant impacting TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) on chromosome 11, position 68042834, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CTAGCCCCAGGGTACCCGGTGGAGATGCCCGCTCCTACCACTCAGCACATGCAGCTCCACAGGGAGCAGCGAGGGCTCCAGCCACCCCCGGGGCAGCCCTGGGCCTAAGTGCCTGGGCCAGTGGGGTCCTGTCTAGGGTGACGGCAGCCCGAGAGGAGGGAGGCCAGAGTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGGGCAGAGCAAGCCAGGAGAGAGCTTGAGGTCGGCCTGAGGGTGGGCTTCGGGGTCTCCCAGTCCCACTGCTTACTTTCTGCGTGACCT... | CTAGCCCCAGGGTACCCGGTGGAGATGCCCGCTCCTACCACTCAGCACATGCAGCTCCACAGGGAGCAGCGAGGGCTCCAGCCACCCCCGGGGCAGCCCTGGGCCTAAGTGCCTGGGCCAGTGGGGTCCTGTCTAGGGTGACGGCAGCCCGAGAGGAGGGAGGCCAGAGTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGGGCAGAGCAAGCCAGGAGAGAGCTTGAGGTCGGCCTGAGGGTGGGCTTCGGGGTCTCCCAGTCCCACTGCTTACTTTCTGCGTGACCT... | pathogenic | 179,552 |
Gene mutation in TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) at chromosome 11, position 68042974—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | ACGGCAGCCCGAGAGGAGGGAGGCCAGAGTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGGGCAGAGCAAGCCAGGAGAGAGCTTGAGGTCGGCCTGAGGGTGGGCTTCGGGGTCTCCCAGTCCCACTGCTTACTTTCTGCGTGACCTCAGCACCGCATCAAGCCTGCCCAGGCCTCAGTTTCCACCTCTGTCAGATGGGGGTGGTAACAGCAGCTTCCAGGATTCAGTGAGTGAAGGTGCACAGGTGCCCGTGGTTGGGAACTGTCTGTGGTCTGCCCCTGACTGGC... | ACGGCAGCCCGAGAGGAGGGAGGCCAGAGTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGGGCAGAGCAAGCCAGGAGAGAGCTTGAGGTCGGCCTGAGGGTGGGCTTCGGGGTCTCCCAGTCCCACTGCTTACTTTCTGCGTGACCTCAGCACCGCATCAAGCCTGCCCAGGCCTCAGTTTCCACCTCTGTCAGATGGGGGTGGTAACAGCAGCTTCCAGGATTCAGTGAGTGAAGGTGCACAGGTGCCCGTGGTTGGGAACTGTCTGTGGTCTGCCCCTGACTGGC... | pathogenic | 179,556 |
Is the variant located on chromosome 11 at position 68043002, gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | GTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGGGCAGAGCAAGCCAGGAGAGAGCTTGAGGTCGGCCTGAGGGTGGGCTTCGGGGTCTCCCAGTCCCACTGCTTACTTTCTGCGTGACCTCAGCACCGCATCAAGCCTGCCCAGGCCTCAGTTTCCACCTCTGTCAGATGGGGGTGGTAACAGCAGCTTCCAGGATTCAGTGAGTGAAGGTGCACAGGTGCCCGTGGTTGGGAACTGTCTGTGGTCTGCCCCTGACTGGCCCCCATCCGTGTCCACCCACAGGACCAT... | GTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGGGCAGAGCAAGCCAGGAGAGAGCTTGAGGTCGGCCTGAGGGTGGGCTTCGGGGTCTCCCAGTCCCACTGCTTACTTTCTGCGTGACCTCAGCACCGCATCAAGCCTGCCCAGGCCTCAGTTTCCACCTCTGTCAGATGGGGGTGGTAACAGCAGCTTCCAGGATTCAGTGAGTGAAGGTGCACAGGTGCCCGTGGTTGGGAACTGTCTGTGGTCTGCCCCTGACTGGCCCCCATCCGTGTCCACCCACAGGACCAT... | pathogenic | 179,557 |
Considering the genetic mutation at chromosome 11, position 68043394, impacting TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CGTGAGTCGGCTGGGCGAGCTGGGCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGG... | CGTGAGTCGGCTGGGCGAGCTGGGCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGG... | pathogenic | 179,563 |
Is chromosome 11, position 68043417, gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | GCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGC... | GCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGC... | pathogenic | 179,565 |
Evaluate if the mutation on chromosome 11 at position 68043418 in TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCT... | CCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCT... | pathogenic | 179,566 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 68043630, gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): what disease(s) if pathogenic? | pathogenic; ['TCIRG1-related_disorder'] | GGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAA... | GGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAA... | pathogenic | 179,575 |
The chromosome 11, position 68043641 genetic variant in gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | TCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTG... | TCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTG... | pathogenic | 179,576 |
Does the chromosome 11 mutation at position 68043896 within gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTG... | CCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTG... | pathogenic | 179,581 |
Clinically, how would you classify the variant at chromosome 11, position 68044145, gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | TGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAG... | TGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAG... | pathogenic | 179,584 |
Clinically, how would you classify the variant at chromosome 11, position 68044186, gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | AGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAG... | AGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAG... | pathogenic | 179,585 |
Assess the variant on chromosome 11, position 68044230, impacting TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | GGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGAT... | GGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGAT... | pathogenic | 179,586 |
Mutation at chromosome 11, position 68044294, within TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGG... | CCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGG... | pathogenic | 179,589 |
Gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) variant at chromosome 11, position 68044973—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | ATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCC... | ATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCC... | pathogenic | 179,596 |
Evaluate if the mutation on chromosome 11 at position 68045052 in TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_osteopetrosis_1', 'Osteopetrosis'] | GGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAG... | GGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAG... | pathogenic | 179,598 |
Benign or pathogenic: chromosome 11, position 68047494, gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_osteopetrosis_1', 'TCIRG1-related_disorder'] | ATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGC... | ATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGC... | pathogenic | 179,602 |
Is the genetic change at chromosome 11, position 68047652, within gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_osteopetrosis_1', 'TCIRG1-related_disorder'] | AGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGG... | AGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGG... | pathogenic | 179,611 |
Is the genetic variant on chromosome 11, position 68047659, gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | TGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCC... | TGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCC... | pathogenic | 179,612 |
Located at chromosome 11 position 68047684, the variant affecting gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACT... | CTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACT... | pathogenic | 179,614 |
Evaluate the clinical significance of the mutation at chromosome 11, position 68047710 in gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | TCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCC... | TCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCC... | pathogenic | 179,615 |
A mutation at chromosome position 68047799 on chromosome 11 in gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGT... | CCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGT... | pathogenic | 179,618 |
Considering the genetic mutation at chromosome 11, position 68048987, impacting TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | GGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTCTGTTTTTAGTACAGGCAGGGTTTCACCGTGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCCCCCC... | GGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTCTGTTTTTAGTACAGGCAGGGTTTCACCGTGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCCCCCC... | pathogenic | 179,626 |
The genetic variant at chromosome 11, position 68049664, affecting gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_osteopetrosis_1', 'TCIRG1-related_disorder'] | GCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTCTTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGG... | GCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTCTTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGG... | pathogenic | 179,638 |
Evaluate if the mutation on chromosome 11 at position 68049741 in TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | GCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAG... | GCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAG... | pathogenic | 179,639 |
Gene mutation in TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) at chromosome 11, position 68049751—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGG... | CATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGG... | pathogenic | 179,640 |
Determine whether the variant at chromosome 11, position 68050177, in gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACC... | CGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACC... | pathogenic | 179,646 |
The mutation in gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) at chromosome 11, position 68050235—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGC... | CAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGC... | pathogenic | 179,648 |
Does the variant on chromosome 11 at location 68050524 affecting gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGT... | TAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGT... | benign | 179,652 |
Regarding the variant at chromosome 11 and position 68050622, affecting gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | GTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCT... | GTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCT... | pathogenic | 179,654 |
Gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) variant at chromosome 11, position 68050629—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | ACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACC... | ACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACC... | pathogenic | 179,655 |
Mutation found at chromosome 11 position 68157920, gene KMT5B (lysine methyltransferase 5B): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Intellectual_disability,_autosomal_dominant_51'] | GACTGCACCACAACAAACAAGGATGAGACTATGTAAGACTGCAGAAGTAGTTCCTTAGAGAACCAGGAGAAAACAATCTACTTTCTAAAAATGTTCATGAGTCTTAATTTCTATTTGGAACCTATGGGCAATCAACAGTCTTAAGGAGCGTCATTGAAACAATATCCCCCCAAACCTGGAAACTAGTAGGAATCAATTAGTAGTAACAGTAAGCATTGAGATTTTCTCCACTGGACTTTTCATGACCTTCAGATTCCTTTTCATATTTCAAGACATGGGCTACTTTCCTATAGACACTATACAAATCCCCTGAATTGATT... | GACTGCACCACAACAAACAAGGATGAGACTATGTAAGACTGCAGAAGTAGTTCCTTAGAGAACCAGGAGAAAACAATCTACTTTCTAAAAATGTTCATGAGTCTTAATTTCTATTTGGAACCTATGGGCAATCAACAGTCTTAAGGAGCGTCATTGAAACAATATCCCCCCAAACCTGGAAACTAGTAGGAATCAATTAGTAGTAACAGTAAGCATTGAGATTTTCTCCACTGGACTTTTCATGACCTTCAGATTCCTTTTCATATTTCAAGACATGGGCTACTTTCCTATAGACACTATACAAATCCCCTGAATTGATT... | pathogenic | 179,658 |
Evaluate the clinical significance of the mutation at chromosome 11, position 68171637 in gene KMT5B (lysine methyltransferase 5B): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Intellectual_disability,_autosomal_dominant_51'] | CATCAACCCTACAAAATAGGTTCTGATGTTATCCCCATTTTACAGATGGGGAAATTAAGGCACAAAGCAGCTAAGTGACTTACCCTACACATCACATAGCTAATGAAATGCAGAGTTGCAGGATTCCAACCCAGGCAGTCTGATTTCAGATGATAGGCACTTAACTGTTATACTGTTTCCTCTACAAAATGATTTTGAAGAATTATTGAACTATAATTAAACTACTTTAAAGGGTATTCTCTGGACTGGTCCAAGATCTAACCAACATGTGAATAATTTTTATGTAGAAAAAGATAAATTTTATGTCCCTCTGCCCTGGT... | CATCAACCCTACAAAATAGGTTCTGATGTTATCCCCATTTTACAGATGGGGAAATTAAGGCACAAAGCAGCTAAGTGACTTACCCTACACATCACATAGCTAATGAAATGCAGAGTTGCAGGATTCCAACCCAGGCAGTCTGATTTCAGATGATAGGCACTTAACTGTTATACTGTTTCCTCTACAAAATGATTTTGAAGAATTATTGAACTATAATTAAACTACTTTAAAGGGTATTCTCTGGACTGGTCCAAGATCTAACCAACATGTGAATAATTTTTATGTAGAAAAAGATAAATTTTATGTCCCTCTGCCCTGGT... | pathogenic | 179,667 |
Regarding the variant at chromosome 11 and position 68171690, affecting gene KMT5B (lysine methyltransferase 5B): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Intellectual_disability,_autosomal_dominant_51'] | ATTAAGGCACAAAGCAGCTAAGTGACTTACCCTACACATCACATAGCTAATGAAATGCAGAGTTGCAGGATTCCAACCCAGGCAGTCTGATTTCAGATGATAGGCACTTAACTGTTATACTGTTTCCTCTACAAAATGATTTTGAAGAATTATTGAACTATAATTAAACTACTTTAAAGGGTATTCTCTGGACTGGTCCAAGATCTAACCAACATGTGAATAATTTTTATGTAGAAAAAGATAAATTTTATGTCCCTCTGCCCTGGTAAAAATTCAGCAGCACTAGGAACTGGTTTTCTGCCACATCTTTATGGCAAGGA... | ATTAAGGCACAAAGCAGCTAAGTGACTTACCCTACACATCACATAGCTAATGAAATGCAGAGTTGCAGGATTCCAACCCAGGCAGTCTGATTTCAGATGATAGGCACTTAACTGTTATACTGTTTCCTCTACAAAATGATTTTGAAGAATTATTGAACTATAATTAAACTACTTTAAAGGGTATTCTCTGGACTGGTCCAAGATCTAACCAACATGTGAATAATTTTTATGTAGAAAAAGATAAATTTTATGTCCCTCTGCCCTGGTAAAAATTCAGCAGCACTAGGAACTGGTTTTCTGCCACATCTTTATGGCAAGGA... | pathogenic | 179,668 |
Clinical classification of chromosome 11, position 68173923, gene KMT5B (lysine methyltransferase 5B): benign or pathogenic? Disease(s) if pathogenic? | benign | TGGAGCTCCACAGCCTTGTGCCATGGTTACTTGTGTACCTATCTTATTCCTGCAAGAGAATGGAAACTCAACCAGGACAGGGACTATGCCACCTATGTCTCTGAATGCCCTGGTGTGGTGTTTTGCAAGCAGAAAGTACTCAAATACTTGCGGCAATGAATTAAACTTTCTGACTGCTGGATGAAGCAGGCAGGGACCAGTGGCAGTAAGGGTTATGAGGATCCGGAATCATGGTGCCACTCTTTAGAGCACACCATCTGCTAGGAATATAATGCAAGCCAAATTTTCAATCTTAAATTTTTTAGCAGCCACATTGAGAA... | TGGAGCTCCACAGCCTTGTGCCATGGTTACTTGTGTACCTATCTTATTCCTGCAAGAGAATGGAAACTCAACCAGGACAGGGACTATGCCACCTATGTCTCTGAATGCCCTGGTGTGGTGTTTTGCAAGCAGAAAGTACTCAAATACTTGCGGCAATGAATTAAACTTTCTGACTGCTGGATGAAGCAGGCAGGGACCAGTGGCAGTAAGGGTTATGAGGATCCGGAATCATGGTGCCACTCTTTAGAGCACACCATCTGCTAGGAATATAATGCAAGCCAAATTTTCAATCTTAAATTTTTTAGCAGCCACATTGAGAA... | benign | 179,671 |
Chromosome 11, position 68180201, gene KMT5B (lysine methyltransferase 5B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AAAGGGCCAAGCTATCTTTACACGTTCAATGTGAAAGTGACCAATGGGAACATTATACAAAAGTAAGTTATAGACCTGGAATGAAACTTGGCTATTTTTAATAGGCTTTATGTGTGTTCTATGCTTTCTGAAACAAGTTCATTCCTATCTAAAAATGCCTTCAGGTAACCTTGGTTTTGTTTACTTTTTATTCATAATGCCAAACAATTTACATGCTAAAACCAACACAAAATAGTCAACTCTTGATTTAGTAGTATTCTGCCTACCTTCCCTGTGTTGACTTCTGTTTCTGCTTTCCTGACTTTATTGCCTCAAACATA... | AAAGGGCCAAGCTATCTTTACACGTTCAATGTGAAAGTGACCAATGGGAACATTATACAAAAGTAAGTTATAGACCTGGAATGAAACTTGGCTATTTTTAATAGGCTTTATGTGTGTTCTATGCTTTCTGAAACAAGTTCATTCCTATCTAAAAATGCCTTCAGGTAACCTTGGTTTTGTTTACTTTTTATTCATAATGCCAAACAATTTACATGCTAAAACCAACACAAAATAGTCAACTCTTGATTTAGTAGTATTCTGCCTACCTTCCCTGTGTTGACTTCTGTTTCTGCTTTCCTGACTTTATTGCCTCAAACATA... | benign | 179,673 |
Is chromosome 11, position 68185853, gene KMT5B (lysine methyltransferase 5B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autistic_behavior'] | GTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCTGGTGATCCACCCAGCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCAGCCTGGATCTTAATCAATCAGGGCATCCAATGGCAGTCATTTGGCAGGGAACTGTTTAAATAATCCCCCAACTCCATTCCAATATTTCACACTTCATTTTAGTAGGTAAAGATATATGACAGAAAATTTTATGGTCAGACATGGTGGCTCACGTCTATAATCCCAGCA... | GTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCTGGTGATCCACCCAGCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCAGCCTGGATCTTAATCAATCAGGGCATCCAATGGCAGTCATTTGGCAGGGAACTGTTTAAATAATCCCCCAACTCCATTCCAATATTTCACACTTCATTTTAGTAGGTAAAGATATATGACAGAAAATTTTATGGTCAGACATGGTGGCTCACGTCTATAATCCCAGCA... | pathogenic | 179,674 |
Is the genetic change at chromosome 11, position 68312746, within gene LRP5 (LDL receptor related protein 5) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TGAGCTACGATCACACCACTACACTCCAGCCTGGGCCACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGTCCCAGCAGAGAACAGCAAGCACAAAGGCCCTGAGGCAGGAGTGCACCTGGTGTGTTTGAGAACCCACAGAGACACCACTGTGGCTGGAGCAGGGTGAGATGTGGGAAGGGAGTGGCTAAGGAAGCTGAGAGGTCAAGGAAGAAGTGTGGTTGGAGCAGGCCCTGCAGGTGCCGAAGGCTTTTGCTTCTTTCCTGAGATGGCAGCCCTCACGAGCCCTGGAGCTTCCCTGGCTGCCATGA... | TGAGCTACGATCACACCACTACACTCCAGCCTGGGCCACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGTCCCAGCAGAGAACAGCAAGCACAAAGGCCCTGAGGCAGGAGTGCACCTGGTGTGTTTGAGAACCCACAGAGACACCACTGTGGCTGGAGCAGGGTGAGATGTGGGAAGGGAGTGGCTAAGGAAGCTGAGAGGTCAAGGAAGAAGTGTGGTTGGAGCAGGCCCTGCAGGTGCCGAAGGCTTTTGCTTCTTTCCTGAGATGGCAGCCCTCACGAGCCCTGGAGCTTCCCTGGCTGCCATGA... | benign | 179,677 |
Located at chromosome 11 position 68312746, the variant affecting gene LRP5 (LDL receptor related protein 5)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TGAGCTACGATCACACCACTACACTCCAGCCTGGGCCACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGTCCCAGCAGAGAACAGCAAGCACAAAGGCCCTGAGGCAGGAGTGCACCTGGTGTGTTTGAGAACCCACAGAGACACCACTGTGGCTGGAGCAGGGTGAGATGTGGGAAGGGAGTGGCTAAGGAAGCTGAGAGGTCAAGGAAGAAGTGTGGTTGGAGCAGGCCCTGCAGGTGCCGAAGGCTTTTGCTTCTTTCCTGAGATGGCAGCCCTCACGAGCCCTGGAGCTTCCCTGGCTGCCATGA... | TGAGCTACGATCACACCACTACACTCCAGCCTGGGCCACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGTCCCAGCAGAGAACAGCAAGCACAAAGGCCCTGAGGCAGGAGTGCACCTGGTGTGTTTGAGAACCCACAGAGACACCACTGTGGCTGGAGCAGGGTGAGATGTGGGAAGGGAGTGGCTAAGGAAGCTGAGAGGTCAAGGAAGAAGTGTGGTTGGAGCAGGCCCTGCAGGTGCCGAAGGCTTTTGCTTCTTTCCTGAGATGGCAGCCCTCACGAGCCCTGGAGCTTCCCTGGCTGCCATGA... | benign | 179,678 |
Classify the chromosome 11 variant at position 68312746 affecting gene LRP5 (LDL receptor related protein 5) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TGAGCTACGATCACACCACTACACTCCAGCCTGGGCCACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGTCCCAGCAGAGAACAGCAAGCACAAAGGCCCTGAGGCAGGAGTGCACCTGGTGTGTTTGAGAACCCACAGAGACACCACTGTGGCTGGAGCAGGGTGAGATGTGGGAAGGGAGTGGCTAAGGAAGCTGAGAGGTCAAGGAAGAAGTGTGGTTGGAGCAGGCCCTGCAGGTGCCGAAGGCTTTTGCTTCTTTCCTGAGATGGCAGCCCTCACGAGCCCTGGAGCTTCCCTGGCTGCCATGA... | TGAGCTACGATCACACCACTACACTCCAGCCTGGGCCACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGTCCCAGCAGAGAACAGCAAGCACAAAGGCCCTGAGGCAGGAGTGCACCTGGTGTGTTTGAGAACCCACAGAGACACCACTGTGGCTGGAGCAGGGTGAGATGTGGGAAGGGAGTGGCTAAGGAAGCTGAGAGGTCAAGGAAGAAGTGTGGTTGGAGCAGGCCCTGCAGGTGCCGAAGGCTTTTGCTTCTTTCCTGAGATGGCAGCCCTCACGAGCCCTGGAGCTTCCCTGGCTGCCATGA... | benign | 179,679 |
Clinical significance of chromosome 11, position 68347964, gene LRP5 (LDL receptor related protein 5): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_osteopetrosis_1', 'Bone_mineral_density_quantitative_trait_locus_1', 'Exudative_vitreoretinopathy_4', 'Osteoporosis_with_pseudoglioma', 'Polycystic_liver_disease_4_with_or_without_kidney_cysts', 'Retinal_dystrophy', 'Worth_disease'] | TAGGGATATATTAAGCCTGTTTTGATGTGTTTATTGGCCATTTATATGTCATCTTTGGAGAAATGTCTGTTCAAGTTGTTTGCCCATTTTTGAGTTGGCTTAGTTGTTTTCTCATTGTTGAGTTTTAGGAGTTCTCTGTATTTCATGGATATTAATCTCTTAGTAGATCTATGATTTGGAAATATTTTCTCTCATTCTGTGGGTTGCCTTTTTACTCTCTCGATAGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGT... | TAGGGATATATTAAGCCTGTTTTGATGTGTTTATTGGCCATTTATATGTCATCTTTGGAGAAATGTCTGTTCAAGTTGTTTGCCCATTTTTGAGTTGGCTTAGTTGTTTTCTCATTGTTGAGTTTTAGGAGTTCTCTGTATTTCATGGATATTAATCTCTTAGTAGATCTATGATTTGGAAATATTTTCTCTCATTCTGTGGGTTGCCTTTTTACTCTCTCGATAGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGT... | pathogenic | 179,683 |
Is the genetic change at chromosome 11, position 68348253, within gene LRP5 (LDL receptor related protein 5) benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATGCCTTCCTGTTGTTTGACTTTCACAGTGTCCCTCGTTGCCACAAAGAACTGTAGACCTAAGATGATGACAGCACGGGTGGGGCGGCGGAGGCGCCGCTGTCATTTTCCTGGCCTCAGGTCCTCTGTGTGTCCTCCCATCCTGTGGAGCATGTCTCCTGGGAATGGGAGGGGCCAGGATTTGAGCCAGTGCTTGTCTTGGCAGGGAGGCCTGTGCTCGGAACCATCTACCCCACTGCGCTGGGGTCTCCTGGGCCATGCTCTGGCCCTTTGTGTTCCCAGCTACCCTCATAGAGGCTGCAAATCTTTCCCCTGCTGAAA... | ATGCCTTCCTGTTGTTTGACTTTCACAGTGTCCCTCGTTGCCACAAAGAACTGTAGACCTAAGATGATGACAGCACGGGTGGGGCGGCGGAGGCGCCGCTGTCATTTTCCTGGCCTCAGGTCCTCTGTGTGTCCTCCCATCCTGTGGAGCATGTCTCCTGGGAATGGGAGGGGCCAGGATTTGAGCCAGTGCTTGTCTTGGCAGGGAGGCCTGTGCTCGGAACCATCTACCCCACTGCGCTGGGGTCTCCTGGGCCATGCTCTGGCCCTTTGTGTTCCCAGCTACCCTCATAGAGGCTGCAAATCTTTCCCCTGCTGAAA... | benign | 179,692 |
A genetic variant on chromosome 11, position 68363899, affects the gene LRP5 (LDL receptor related protein 5). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic | GAAAACAGTTTGTTGATTCCTTGAGACGTAAACATTGATTTACGTATGACCCAGCAATTCCGCTCCTAGCTGTATACTCTTAAGAATCGAAAACAGGTCTTCACACAAAATGTGAATGGACAGTAATGTCCGTAGCAGCACTGTGCACAACAGCCGAGGGTGGAAATGACACAAAGGTCCCCCAGTGGGTGAATGGATGCACAGATTGGGTTCTGTCTGCACACTGGAATATGGTTCACCCCTAAAACGGGATGAAGCACTGACATGCTACAGCCTGGATGAACCTCGAAAACATGGTGCCAAGTCAAAGAAGACAGACA... | GAAAACAGTTTGTTGATTCCTTGAGACGTAAACATTGATTTACGTATGACCCAGCAATTCCGCTCCTAGCTGTATACTCTTAAGAATCGAAAACAGGTCTTCACACAAAATGTGAATGGACAGTAATGTCCGTAGCAGCACTGTGCACAACAGCCGAGGGTGGAAATGACACAAAGGTCCCCCAGTGGGTGAATGGATGCACAGATTGGGTTCTGTCTGCACACTGGAATATGGTTCACCCCTAAAACGGGATGAAGCACTGACATGCTACAGCCTGGATGAACCTCGAAAACATGGTGCCAAGTCAAAGAAGACAGACA... | pathogenic | 179,709 |
Assess the variant on chromosome 11, position 68365712, impacting LRP5 (LDL receptor related protein 5): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | AAAAAAGAAATTAATTGGGTCAGCAGCAATGACTGTCGGGGGACCCTCCTGATGGCTCCTCCACCCCGCTTCCCTGACTGCAGGCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGGGGACACTCTGTACTGGACAGACTGGCAGACCCGCTCCATCCATGCCTGCAACAAGCGCACTGGGGGGAAGAGGAAGGAGATCCTGAGTGCCCTCTACTCACCCATGGACATCCAGGTGCTGAGCCAGGAGCGGCAGCCTTTCTGTGAGTGCCGGCTGGGGCGCGGGGGCGAGGGTGCGGGGGC... | AAAAAAGAAATTAATTGGGTCAGCAGCAATGACTGTCGGGGGACCCTCCTGATGGCTCCTCCACCCCGCTTCCCTGACTGCAGGCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGGGGACACTCTGTACTGGACAGACTGGCAGACCCGCTCCATCCATGCCTGCAACAAGCGCACTGGGGGGAAGAGGAAGGAGATCCTGAGTGCCCTCTACTCACCCATGGACATCCAGGTGCTGAGCCAGGAGCGGCAGCCTTTCTGTGAGTGCCGGCTGGGGCGCGGGGGCGAGGGTGCGGGGGC... | benign | 179,715 |
Does the genetic variant at chromosome 11, position 68386670, impacting gene LRP5 (LDL receptor related protein 5), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Exudative_vitreoretinopathy_1', 'Exudative_vitreoretinopathy_4', 'Osteoporosis_with_pseudoglioma', 'Polycystic_liver_disease_4_with_or_without_kidney_cysts'] | CACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAG... | CACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAG... | pathogenic | 179,733 |
Does the genetic variant at chromosome 11, position 68413672, impacting gene LRP5 (LDL receptor related protein 5), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AGGGCCGGGCTGGGGCCTTCTGGTCATGGAGGGCGGGGCAGCCGGGCGTTGGCCACCTCCCAGCCTCGCCGCACATACCCTGTGGCCTGCAAGTTCCCCAACCTGGCAGGAGCTGTGGCCACACCCACGACTGCCCAGCAGCCTCACCCTCTGCTGTGGGAGTTGTCCCCGTCCACCCCTGGGTGCCTTTGCTGCAGTTATGTCGGGAGAGGCTCTGGTGACAGCTGTTTCCTGTGCACCTGCTGGGCACTAGGTCCCAGCTAATCCCTGTGCCAGGACTCTAATTTCACCCTAACACACATGGTGGTTTTCATTGCTGG... | AGGGCCGGGCTGGGGCCTTCTGGTCATGGAGGGCGGGGCAGCCGGGCGTTGGCCACCTCCCAGCCTCGCCGCACATACCCTGTGGCCTGCAAGTTCCCCAACCTGGCAGGAGCTGTGGCCACACCCACGACTGCCCAGCAGCCTCACCCTCTGCTGTGGGAGTTGTCCCCGTCCACCCCTGGGTGCCTTTGCTGCAGTTATGTCGGGAGAGGCTCTGGTGACAGCTGTTTCCTGTGCACCTGCTGGGCACTAGGTCCCAGCTAATCCCTGTGCCAGGACTCTAATTTCACCCTAACACACATGGTGGTTTTCATTGCTGG... | benign | 179,786 |
Chromosome 11, position 68413900, gene LRP5 (LDL receptor related protein 5): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Exudative_vitreoretinopathy_4', 'Inborn_genetic_diseases', 'Retinal_dystrophy'] | TTCCTGTGCACCTGCTGGGCACTAGGTCCCAGCTAATCCCTGTGCCAGGACTCTAATTTCACCCTAACACACATGGTGGTTTTCATTGCTGGGGAAGCTGAGGCCTGAGCACATGACTTGCCTTAGGTCACATAGCTGGTGAGTTCAGGATCCCCCAGAGATACCAGGGCCAGCACTCGATCCCCACCCAGCCCTGAACCCCACCATGTGCTGGGATTGTGCTGGGAGTGTCCACACGCCCGGGACCCCAGGGCTGGTGCTCTCATCTCCTTTTTCCAGATCATGAGAATGAGGCTCAGGGAAGTTTGAAAAAAACCTAT... | TTCCTGTGCACCTGCTGGGCACTAGGTCCCAGCTAATCCCTGTGCCAGGACTCTAATTTCACCCTAACACACATGGTGGTTTTCATTGCTGGGGAAGCTGAGGCCTGAGCACATGACTTGCCTTAGGTCACATAGCTGGTGAGTTCAGGATCCCCCAGAGATACCAGGGCCAGCACTCGATCCCCACCCAGCCCTGAACCCCACCATGTGCTGGGATTGTGCTGGGAGTGTCCACACGCCCGGGACCCCAGGGCTGGTGCTCTCATCTCCTTTTTCCAGATCATGAGAATGAGGCTCAGGGAAGTTTGAAAAAAACCTAT... | pathogenic | 179,795 |
Located at chromosome 11 position 68413921, the variant affecting gene LRP5 (LDL receptor related protein 5)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_dominant_osteopetrosis_1', 'Bone_mineral_density_quantitative_trait_locus_1', 'Exudative_vitreoretinopathy_4', 'Osteoporosis_with_pseudoglioma', 'Polycystic_liver_disease_4_with_or_without_kidney_cysts', 'Worth_disease'] | CTAGGTCCCAGCTAATCCCTGTGCCAGGACTCTAATTTCACCCTAACACACATGGTGGTTTTCATTGCTGGGGAAGCTGAGGCCTGAGCACATGACTTGCCTTAGGTCACATAGCTGGTGAGTTCAGGATCCCCCAGAGATACCAGGGCCAGCACTCGATCCCCACCCAGCCCTGAACCCCACCATGTGCTGGGATTGTGCTGGGAGTGTCCACACGCCCGGGACCCCAGGGCTGGTGCTCTCATCTCCTTTTTCCAGATCATGAGAATGAGGCTCAGGGAAGTTTGAAAAAAACCTATCCCAAGTCACACAGCAACAGG... | CTAGGTCCCAGCTAATCCCTGTGCCAGGACTCTAATTTCACCCTAACACACATGGTGGTTTTCATTGCTGGGGAAGCTGAGGCCTGAGCACATGACTTGCCTTAGGTCACATAGCTGGTGAGTTCAGGATCCCCCAGAGATACCAGGGCCAGCACTCGATCCCCACCCAGCCCTGAACCCCACCATGTGCTGGGATTGTGCTGGGAGTGTCCACACGCCCGGGACCCCAGGGCTGGTGCTCTCATCTCCTTTTTCCAGATCATGAGAATGAGGCTCAGGGAAGTTTGAAAAAAACCTATCCCAAGTCACACAGCAACAGG... | pathogenic | 179,796 |
Does the variant impacting LRP5 (LDL receptor related protein 5) on chromosome 11, position 68423710, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TGTCTTTGCAGCTGCCCAGCAAGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTGGTGTGTGTGTGTGTATGGGGGAGGGAGGCACCCTTTCCATCTGGGGGTGTGTGTGTGTGGGGTGTGTGTGTGTGTGTGCGCGTGTGTGTGGTGTGTGGTGTGTGTGTGTGTATGGGGGAGGCACCCTTTCCATCTGGGTCCAAGAGACTGGGCCTGGGGAAGACGCTTCTTTTTATCTACTTAGAGACTTTGTTTTATTTGTATTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGGGTA... | TGTCTTTGCAGCTGCCCAGCAAGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTGGTGTGTGTGTGTGTATGGGGGAGGGAGGCACCCTTTCCATCTGGGGGTGTGTGTGTGTGGGGTGTGTGTGTGTGTGTGCGCGTGTGTGTGGTGTGTGGTGTGTGTGTGTGTATGGGGGAGGCACCCTTTCCATCTGGGTCCAAGAGACTGGGCCTGGGGAAGACGCTTCTTTTTATCTACTTAGAGACTTTGTTTTATTTGTATTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGGGTA... | benign | 179,813 |
Variant on chromosome 11, at position 68438516, affecting LRP5 (LDL receptor related protein 5): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinal_dystrophy'] | CAAGCTCTGCTGAGCACCACTGCCTTCCACAGCCCCCACTCTCGGGAGGCGAGGCTCCTCGTGGCCATTCCTGTCCTTGGCACCCACCCCCCCACCAACCTGGTAGAGCCTTGGGCGGGGTCTGTTACTCCTTGCATGGCGTAGACCTCCCCACAGTAGGCACCTGACACATACCTCCTGGGGGGCAGGCAGGAGGTGCGTTGAGGTCTCAGCCCTGGCAGTCCCTCCCCTGCGTGGCATAGGCCTCGCCACAGGGTCATCGAGGGTGGGTGGAGACTGTACTAGACCACTCCCCGCTGGTCCTAGAAAGGGTCCCATCT... | CAAGCTCTGCTGAGCACCACTGCCTTCCACAGCCCCCACTCTCGGGAGGCGAGGCTCCTCGTGGCCATTCCTGTCCTTGGCACCCACCCCCCCACCAACCTGGTAGAGCCTTGGGCGGGGTCTGTTACTCCTTGCATGGCGTAGACCTCCCCACAGTAGGCACCTGACACATACCTCCTGGGGGGCAGGCAGGAGGTGCGTTGAGGTCTCAGCCCTGGCAGTCCCTCCCCTGCGTGGCATAGGCCTCGCCACAGGGTCATCGAGGGTGGGTGGAGACTGTACTAGACCACTCCCCGCTGGTCCTAGAAAGGGTCCCATCT... | pathogenic | 179,873 |
Variant in LRP5 (LDL receptor related protein 5), chromosome 11, position 68438594—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_dominant_osteopetrosis_1', 'Bone_mineral_density_quantitative_trait_locus_1', 'Exudative_vitreoretinopathy_4', 'Osteoporosis_with_pseudoglioma', 'Polycystic_liver_disease_4_with_or_without_kidney_cysts', 'Worth_disease'] | GGCACCCACCCCCCCACCAACCTGGTAGAGCCTTGGGCGGGGTCTGTTACTCCTTGCATGGCGTAGACCTCCCCACAGTAGGCACCTGACACATACCTCCTGGGGGGCAGGCAGGAGGTGCGTTGAGGTCTCAGCCCTGGCAGTCCCTCCCCTGCGTGGCATAGGCCTCGCCACAGGGTCATCGAGGGTGGGTGGAGACTGTACTAGACCACTCCCCGCTGGTCCTAGAAAGGGTCCCATCTGTCTGCTCTCTGTTTGGAGTCCAGACCTTGGTTGCTGTGCCCTGCATGGTGGGCTGGGGGGCACCCTCCAGCCTCTCT... | GGCACCCACCCCCCCACCAACCTGGTAGAGCCTTGGGCGGGGTCTGTTACTCCTTGCATGGCGTAGACCTCCCCACAGTAGGCACCTGACACATACCTCCTGGGGGGCAGGCAGGAGGTGCGTTGAGGTCTCAGCCCTGGCAGTCCCTCCCCTGCGTGGCATAGGCCTCGCCACAGGGTCATCGAGGGTGGGTGGAGACTGTACTAGACCACTCCCCGCTGGTCCTAGAAAGGGTCCCATCTGTCTGCTCTCTGTTTGGAGTCCAGACCTTGGTTGCTGTGCCCTGCATGGTGGGCTGGGGGGCACCCTCCAGCCTCTCT... | pathogenic | 179,876 |
Is chromosome 11, position 68439879, gene LRP5 (LDL receptor related protein 5) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Retinal_dystrophy'] | CAGCTGTGGGGGCGCTGTTGATGCGCAGCCAGGCCTCGCCGCCAGAGCCCGCACGCTTCCATTCCGCTGACTTCATCGACGCCCTCAGGATCGCTGGGCCGGCCCTGTGGGAGAGTGAATGTGGCTTTTGCCAAAGTTGAGTCTGGAGCCTGGAAACTTCCCTATGGGCAGCCTTGATAGTGGAGTGGCCCAAGGAGCCCACCCAGCCGACCCTGCCCCTCCCGTGGCTGGTGGGCGGCACCAGGGGCTGCCTGGCTTTGCTCGTTCACCAACATCACCTGGGCTGGCCAGGGCGCGCTCACTTCTGCCACCACCGAGGG... | CAGCTGTGGGGGCGCTGTTGATGCGCAGCCAGGCCTCGCCGCCAGAGCCCGCACGCTTCCATTCCGCTGACTTCATCGACGCCCTCAGGATCGCTGGGCCGGCCCTGTGGGAGAGTGAATGTGGCTTTTGCCAAAGTTGAGTCTGGAGCCTGGAAACTTCCCTATGGGCAGCCTTGATAGTGGAGTGGCCCAAGGAGCCCACCCAGCCGACCCTGCCCCTCCCGTGGCTGGTGGGCGGCACCAGGGGCTGCCTGGCTTTGCTCGTTCACCAACATCACCTGGGCTGGCCAGGGCGCGCTCACTTCTGCCACCACCGAGGG... | pathogenic | 179,893 |
Chromosome 11, position 68761540, gene CPT1A (carnitine palmitoyltransferase 1A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Carnitine_palmitoyl_transferase_1A_deficiency'] | TTAAAGATGTGTTTCCTTAAAAAGAATAAAGCAAAAATACCCCATCTTCAGAAAAAGGAACTTCTTTTCATACATACCGTCTCAGGGCAAGAGAACTTGGAAGAAATGTGGAAATTGATGAGGTTCTCTCCCACAAGGATGTACGACACACCATAGCCGTCATCAGCAACCTGGAGGACAAGGGAATTTGAATTTGTTGCTGGGAAATGAGACAACGTGAAAAAGGGACTTTCTAATGTTCTAAATGCAACACTGGCGGGGCTCGGTGGCTTCTCCTTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGGTCACTT... | TTAAAGATGTGTTTCCTTAAAAAGAATAAAGCAAAAATACCCCATCTTCAGAAAAAGGAACTTCTTTTCATACATACCGTCTCAGGGCAAGAGAACTTGGAAGAAATGTGGAAATTGATGAGGTTCTCTCCCACAAGGATGTACGACACACCATAGCCGTCATCAGCAACCTGGAGGACAAGGGAATTTGAATTTGTTGCTGGGAAATGAGACAACGTGAAAAAGGGACTTTCTAATGTTCTAAATGCAACACTGGCGGGGCTCGGTGGCTTCTCCTTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGGTCACTT... | pathogenic | 179,931 |
Is the genetic mutation found on chromosome 11 at position 68761565, within the gene CPT1A (carnitine palmitoyltransferase 1A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Carnitine_palmitoyl_transferase_1A_deficiency'] | ATAAAGCAAAAATACCCCATCTTCAGAAAAAGGAACTTCTTTTCATACATACCGTCTCAGGGCAAGAGAACTTGGAAGAAATGTGGAAATTGATGAGGTTCTCTCCCACAAGGATGTACGACACACCATAGCCGTCATCAGCAACCTGGAGGACAAGGGAATTTGAATTTGTTGCTGGGAAATGAGACAACGTGAAAAAGGGACTTTCTAATGTTCTAAATGCAACACTGGCGGGGCTCGGTGGCTTCTCCTTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGGTCACTTGAGCCCAGGGGTTCGAGACCAGCCC... | ATAAAGCAAAAATACCCCATCTTCAGAAAAAGGAACTTCTTTTCATACATACCGTCTCAGGGCAAGAGAACTTGGAAGAAATGTGGAAATTGATGAGGTTCTCTCCCACAAGGATGTACGACACACCATAGCCGTCATCAGCAACCTGGAGGACAAGGGAATTTGAATTTGTTGCTGGGAAATGAGACAACGTGAAAAAGGGACTTTCTAATGTTCTAAATGCAACACTGGCGGGGCTCGGTGGCTTCTCCTTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGGTCACTTGAGCCCAGGGGTTCGAGACCAGCCC... | pathogenic | 179,933 |
Determine whether the variant at chromosome 11, position 68762735, in gene CPT1A (carnitine palmitoyltransferase 1A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Carnitine_palmitoyl_transferase_1A_deficiency'] | TTTCAAGCTGGCTATTAAATACAGCCACTATTAAAAATTAAATTTGCCAGGCGCAATGGTTCATGTCTGTAATCTCAGCACTTTGGGAACCCGACGCGGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACACGGTGAAACCCCGTCTCTACTAAAATACAACAACAAAAAAAATTAGCCAGGCATGGCAGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTTCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAG... | TTTCAAGCTGGCTATTAAATACAGCCACTATTAAAAATTAAATTTGCCAGGCGCAATGGTTCATGTCTGTAATCTCAGCACTTTGGGAACCCGACGCGGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACACGGTGAAACCCCGTCTCTACTAAAATACAACAACAAAAAAAATTAGCCAGGCATGGCAGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTTCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAG... | pathogenic | 179,944 |
Chromosome 11, position 68773410, gene CPT1A (carnitine palmitoyltransferase 1A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['CPT1A-related_disorder', 'Carnitine_palmitoyl_transferase_1A_deficiency'] | AAAAGATAAAATAACATCCTTTCTGTAGGTAAGGTATCAACTGCTTGCATGCCCTCATACTGCACGTTTACGGGCAAAATCTGCTCATCAATTCTCAAAATCCAGCTCACTGATTCTGAGATGCGATGCCTCTATTCCATGTCACCTTTTAATCACATGATCTTTAGTCAATGATCTGTCACAGACAGGAGCTTGTCACTGTGCTCCTGGTACTCTGCCCAGCTGCTTCTGGTTTACGCATAGTGAGCATGTTACTTGGGAAAGCAAGGCTTCATAACTGTGACAGTCTTTACAGACTGTATTAGCATGCATTTTAAATA... | AAAAGATAAAATAACATCCTTTCTGTAGGTAAGGTATCAACTGCTTGCATGCCCTCATACTGCACGTTTACGGGCAAAATCTGCTCATCAATTCTCAAAATCCAGCTCACTGATTCTGAGATGCGATGCCTCTATTCCATGTCACCTTTTAATCACATGATCTTTAGTCAATGATCTGTCACAGACAGGAGCTTGTCACTGTGCTCCTGGTACTCTGCCCAGCTGCTTCTGGTTTACGCATAGTGAGCATGTTACTTGGGAAAGCAAGGCTTCATAACTGTGACAGTCTTTACAGACTGTATTAGCATGCATTTTAAATA... | pathogenic | 179,947 |
Is the genetic mutation found on chromosome 11 at position 68775317, within the gene CPT1A (carnitine palmitoyltransferase 1A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Carnitine_palmitoyl_transferase_1A_deficiency'] | TAGTGCGCCAGCTGGAGGGCCAGCTGCACAAAGGCGTCTGGGCTCGTGCGACATTTCTTGATGATTCCTTTACCAAAGGCTACGAATGGGAAGGAATGGAAATCCACGTCGTTTGCCAGAAGATTTGCGGTGTTCAGGGAGGTCTCTATAACCTCTTGACACTTGAGAGAAAGAAGAAAAAGGTTTTACGGAACGAGGGGAGAAAAGTACTGACGCACACCCAGAAGGAAATTGGAGGCTGGTTTTTAGTGCAGCTATAAACTCGGTACTGGGAAGTACACAAACGTTTTCCTGACCCAGAAGCCCTAGTAAGTTAGGGG... | TAGTGCGCCAGCTGGAGGGCCAGCTGCACAAAGGCGTCTGGGCTCGTGCGACATTTCTTGATGATTCCTTTACCAAAGGCTACGAATGGGAAGGAATGGAAATCCACGTCGTTTGCCAGAAGATTTGCGGTGTTCAGGGAGGTCTCTATAACCTCTTGACACTTGAGAGAAAGAAGAAAAAGGTTTTACGGAACGAGGGGAGAAAAGTACTGACGCACACCCAGAAGGAAATTGGAGGCTGGTTTTTAGTGCAGCTATAAACTCGGTACTGGGAAGTACACAAACGTTTTCCTGACCCAGAAGCCCTAGTAAGTTAGGGG... | pathogenic | 179,952 |
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