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 |
|---|---|---|---|---|---|
Clinical significance of chromosome 5, position 149008893, gene SH3TC2 (SH3 domain and tetratricopeptide repeats 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Charcot-Marie-Tooth_disease,_type_I', 'Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4C', 'Susceptibility_to_mononeuropathy_of_the_median_nerve,_mild'] | GTGGCTGTCAGGAAATCTGGGAAGTCTGGCTCTTACCTTCAGCTGGCAGAAGGTGAGTCTGCCCAGGCGATAATACACCTTGGCATAGTACAGGGCCTCCTTGGGACTCTGCAGCCATGGTGGACAGAGGGACAGGGTCTTCAGGTAGCAGTCCTCAGCCATCTCATACATGTGCAGGGAGTAGTACACTGTAGCCAGGCGGTGAAAGGCCACCAGCTCTTGCCTCTGATCTCCTAAGAATTGGAAGACTGAGAGAGATATCCTGCAACCAACACTTTGCATCATTTGTTCACTCATTCATTCCATAAAACTTTTTGAAG... | GTGGCTGTCAGGAAATCTGGGAAGTCTGGCTCTTACCTTCAGCTGGCAGAAGGTGAGTCTGCCCAGGCGATAATACACCTTGGCATAGTACAGGGCCTCCTTGGGACTCTGCAGCCATGGTGGACAGAGGGACAGGGTCTTCAGGTAGCAGTCCTCAGCCATCTCATACATGTGCAGGGAGTAGTACACTGTAGCCAGGCGGTGAAAGGCCACCAGCTCTTGCCTCTGATCTCCTAAGAATTGGAAGACTGAGAGAGATATCCTGCAACCAACACTTTGCATCATTTGTTCACTCATTCATTCCATAAAACTTTTTGAAG... | pathogenic | 102,335 |
Does the genetic variant at chromosome 5, position 149010293, impacting gene SH3TC2 (SH3 domain and tetratricopeptide repeats 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4C', 'Susceptibility_to_mononeuropathy_of_the_median_nerve,_mild'] | TGAGGGGTTTTTAAATCTTTTTTATTCTGCCATTTATCTGTTCTGATGACTATTATTGTTTCCCACTAGCTTTTGACATAAACACAAGATATTCAGCTATGTTCTGAGTTAGGGTAATGGGAACCTGACCTTCATTTACATTTTAGCTTCATGGGAAAATGCACTTTTAACTAAAAATTAACTAATTTAAAATTCAGGGCACAGTCCTTTTGCAATGGGAACATAGCTTATGAAGAGAATAAAATATCATTTACTTTACACTTGGGGAACAACAGCACCTGTAATATAATAATAGTGTGGCACAGGCAACACTTACCAAG... | TGAGGGGTTTTTAAATCTTTTTTATTCTGCCATTTATCTGTTCTGATGACTATTATTGTTTCCCACTAGCTTTTGACATAAACACAAGATATTCAGCTATGTTCTGAGTTAGGGTAATGGGAACCTGACCTTCATTTACATTTTAGCTTCATGGGAAAATGCACTTTTAACTAAAAATTAACTAATTTAAAATTCAGGGCACAGTCCTTTTGCAATGGGAACATAGCTTATGAAGAGAATAAAATATCATTTACTTTACACTTGGGGAACAACAGCACCTGTAATATAATAATAGTGTGGCACAGGCAACACTTACCAAG... | pathogenic | 102,342 |
Evaluate the clinical significance of the mutation at chromosome 5, position 149026635 in gene SH3TC2 (SH3 domain and tetratricopeptide repeats 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4C', 'Susceptibility_to_mononeuropathy_of_the_median_nerve,_mild'] | ACAGATGGAAAGAGACCAAGAGGAAAAGTGACTTATTTAAGGACACATTATTAGGTCATGGCAGGATCAGGTTTCCTGGCCCTAATCCAGTTTTGATTGCTTTCCTCCCAGCTCTGTGGCTTCTGACTCCCTCCAGTAACTTCTTGGGCCATCTGTAGACCCACCCCTGACCTCCTCTCCACCATCCCCATCACATCAGGTCAGTGATTCTGCATCCTGTCTTAACTAAGGCCTCTGTGGTCCATGCTGACAGCATCCAGGGCCTTCTCTCTGGCTTCCCCCTTAATATTTCAGTGGGTTTAGGCATCTGGAGTGGGGAG... | ACAGATGGAAAGAGACCAAGAGGAAAAGTGACTTATTTAAGGACACATTATTAGGTCATGGCAGGATCAGGTTTCCTGGCCCTAATCCAGTTTTGATTGCTTTCCTCCCAGCTCTGTGGCTTCTGACTCCCTCCAGTAACTTCTTGGGCCATCTGTAGACCCACCCCTGACCTCCTCTCCACCATCCCCATCACATCAGGTCAGTGATTCTGCATCCTGTCTTAACTAAGGCCTCTGTGGTCCATGCTGACAGCATCCAGGGCCTTCTCTCTGGCTTCCCCCTTAATATTTCAGTGGGTTTAGGCATCTGGAGTGGGGAG... | pathogenic | 102,349 |
Assess the variant on chromosome 5, position 149027177, impacting SH3TC2 (SH3 domain and tetratricopeptide repeats 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_type_4'] | CAGAAGCATCCAGACTCCTAGGGTGTCCTAGAATGAAAGCAGGGTGGAGCTGGGGCCTCCTGACTCCTCACATGCTGCATGGATCCAAAGCTCCCTCCCTGGGACTGAAGGCAAAGACAGCAGGAGGTTTGGAGGACACCTGATTCTTACAAGACAGGGAAAGAATGAGGGAGAGTGAGAGGAAGACAGACTGGAAGAGAAAGAGAAGGGGGAGTGGAATTCATTATCTGATTATTCCTTATCTGATTGTCCAGGTGCACACAGTTACCATGTTGCTTAGAAATGCAAAAAAATATATATATAGTCATTTAATTACCCTC... | CAGAAGCATCCAGACTCCTAGGGTGTCCTAGAATGAAAGCAGGGTGGAGCTGGGGCCTCCTGACTCCTCACATGCTGCATGGATCCAAAGCTCCCTCCCTGGGACTGAAGGCAAAGACAGCAGGAGGTTTGGAGGACACCTGATTCTTACAAGACAGGGAAAGAATGAGGGAGAGTGAGAGGAAGACAGACTGGAAGAGAAAGAGAAGGGGGAGTGGAATTCATTATCTGATTATTCCTTATCTGATTGTCCAGGTGCACACAGTTACCATGTTGCTTAGAAATGCAAAAAAATATATATATAGTCATTTAATTACCCTC... | pathogenic | 102,365 |
Is the genetic mutation found on chromosome 5 at position 149027239, within the gene SH3TC2 (SH3 domain and tetratricopeptide repeats 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4C'] | ACTCCTCACATGCTGCATGGATCCAAAGCTCCCTCCCTGGGACTGAAGGCAAAGACAGCAGGAGGTTTGGAGGACACCTGATTCTTACAAGACAGGGAAAGAATGAGGGAGAGTGAGAGGAAGACAGACTGGAAGAGAAAGAGAAGGGGGAGTGGAATTCATTATCTGATTATTCCTTATCTGATTGTCCAGGTGCACACAGTTACCATGTTGCTTAGAAATGCAAAAAAATATATATATAGTCATTTAATTACCCTCTCCTCAACAACCTCTCTCTCTGCTTAACAGTAGCGATTTTAGAAGCTATTCTGAATGCTCTA... | ACTCCTCACATGCTGCATGGATCCAAAGCTCCCTCCCTGGGACTGAAGGCAAAGACAGCAGGAGGTTTGGAGGACACCTGATTCTTACAAGACAGGGAAAGAATGAGGGAGAGTGAGAGGAAGACAGACTGGAAGAGAAAGAGAAGGGGGAGTGGAATTCATTATCTGATTATTCCTTATCTGATTGTCCAGGTGCACACAGTTACCATGTTGCTTAGAAATGCAAAAAAATATATATATAGTCATTTAATTACCCTCTCCTCAACAACCTCTCTCTCTGCTTAACAGTAGCGATTTTAGAAGCTATTCTGAATGCTCTA... | pathogenic | 102,369 |
Gene mutation in SH3TC2 (SH3 domain and tetratricopeptide repeats 2) at chromosome 5, position 149027834—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4C'] | AAGTTTTGATTTATTTTTACAAAAATGAGGATTTTTAAGGTAGTCCTAAAAAATCAATCACAAAACAAAGAATGCTCCATTGTGCTGTTACATCATTTTGTCAGCACAATTAAGCCAAAAAGTCAACACTCCTTTTATTCCATGTTTATTCTAAGACTTAATGCAAAGTTGAAATTGTAATCTAAATATTCTTAACTAAAAGGTGAAAACACACTTCATTTCATAATCTACAATTTCATTTTAAAGGTAAGTTCCCGATAAAACTTTTTTTTACCATGACATTTTACACCCCTGCTTTCAGTGGGGGTGACCTTTCTTTA... | AAGTTTTGATTTATTTTTACAAAAATGAGGATTTTTAAGGTAGTCCTAAAAAATCAATCACAAAACAAAGAATGCTCCATTGTGCTGTTACATCATTTTGTCAGCACAATTAAGCCAAAAAGTCAACACTCCTTTTATTCCATGTTTATTCTAAGACTTAATGCAAAGTTGAAATTGTAATCTAAATATTCTTAACTAAAAGGTGAAAACACACTTCATTTCATAATCTACAATTTCATTTTAAAGGTAAGTTCCCGATAAAACTTTTTTTTACCATGACATTTTACACCCCTGCTTTCAGTGGGGGTGACCTTTCTTTA... | pathogenic | 102,389 |
Chromosome 5, position 149028145, gene SH3TC2 (SH3 domain and tetratricopeptide repeats 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4C', 'Inborn_genetic_diseases'] | CTTTCTTTAAAACCAGTTGCCCTTGGCAATGAAGACCTCCTGAAGGTTCTTCTGTCCTTGGTATAACTGCCACTTCTCTGAATTATGCAGCCTCAGTCATGATCCTGTGACAGGTGGTTATAGAAACACACAAGTAACAGTGGCATTACTGAGACCTATCTATGTATCAGGCACAGTTATGAGTGTTTTATGAGCATTAACTCATTTATCCTTCACAATAACACTATAAGATAGATGCCATTATTATCTTCCTTTGGCTGATGAGGAAACTGAGACATGGAGAAATTAAATAGCTTGCCCAAGGCTACACCACTAATAAG... | CTTTCTTTAAAACCAGTTGCCCTTGGCAATGAAGACCTCCTGAAGGTTCTTCTGTCCTTGGTATAACTGCCACTTCTCTGAATTATGCAGCCTCAGTCATGATCCTGTGACAGGTGGTTATAGAAACACACAAGTAACAGTGGCATTACTGAGACCTATCTATGTATCAGGCACAGTTATGAGTGTTTTATGAGCATTAACTCATTTATCCTTCACAATAACACTATAAGATAGATGCCATTATTATCTTCCTTTGGCTGATGAGGAAACTGAGACATGGAGAAATTAAATAGCTTGCCCAAGGCTACACCACTAATAAG... | pathogenic | 102,401 |
Mutation found at chromosome 5 position 149028145, gene SH3TC2 (SH3 domain and tetratricopeptide repeats 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4C', 'Susceptibility_to_mononeuropathy_of_the_median_nerve,_mild'] | CTTTCTTTAAAACCAGTTGCCCTTGGCAATGAAGACCTCCTGAAGGTTCTTCTGTCCTTGGTATAACTGCCACTTCTCTGAATTATGCAGCCTCAGTCATGATCCTGTGACAGGTGGTTATAGAAACACACAAGTAACAGTGGCATTACTGAGACCTATCTATGTATCAGGCACAGTTATGAGTGTTTTATGAGCATTAACTCATTTATCCTTCACAATAACACTATAAGATAGATGCCATTATTATCTTCCTTTGGCTGATGAGGAAACTGAGACATGGAGAAATTAAATAGCTTGCCCAAGGCTACACCACTAATAAG... | CTTTCTTTAAAACCAGTTGCCCTTGGCAATGAAGACCTCCTGAAGGTTCTTCTGTCCTTGGTATAACTGCCACTTCTCTGAATTATGCAGCCTCAGTCATGATCCTGTGACAGGTGGTTATAGAAACACACAAGTAACAGTGGCATTACTGAGACCTATCTATGTATCAGGCACAGTTATGAGTGTTTTATGAGCATTAACTCATTTATCCTTCACAATAACACTATAAGATAGATGCCATTATTATCTTCCTTTGGCTGATGAGGAAACTGAGACATGGAGAAATTAAATAGCTTGCCCAAGGCTACACCACTAATAAG... | pathogenic | 102,402 |
Determine whether the variant at chromosome 5, position 149038445, in gene SH3TC2 (SH3 domain and tetratricopeptide repeats 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_type_4'] | CCTCTCTGTGGCTCCTCTGTTTCCTCTCTGCGTTCTCTCTTCCTCTGCTCTGTAAATGGAGGCATCCTCCAGGGTTCTTCCCCCATTCCTATTTTCCATCCTCTTTTTTCTTTCTCCCTTTCACTGGGACTTCTCACCAGAATGTATTGGATTTCATGTCAGGATTTAAAATCACCAGGACATTTAATGAGAGCTCACTGGATTTAATGTCAGGATTCTAAAGTTCCAGAGGGAAGGCCTTGGGTTCAGCTCCTTCATCCCTGGGGTCCTCTGTTCCCCCTGTGGTAACATGAAGGGGTGGTTCAGAGCAATGTTCTCAC... | CCTCTCTGTGGCTCCTCTGTTTCCTCTCTGCGTTCTCTCTTCCTCTGCTCTGTAAATGGAGGCATCCTCCAGGGTTCTTCCCCCATTCCTATTTTCCATCCTCTTTTTTCTTTCTCCCTTTCACTGGGACTTCTCACCAGAATGTATTGGATTTCATGTCAGGATTTAAAATCACCAGGACATTTAATGAGAGCTCACTGGATTTAATGTCAGGATTCTAAAGTTCCAGAGGGAAGGCCTTGGGTTCAGCTCCTTCATCCCTGGGGTCCTCTGTTCCCCCTGTGGTAACATGAAGGGGTGGTTCAGAGCAATGTTCTCAC... | pathogenic | 102,429 |
Chromosome 5, position 149038476, gene SH3TC2 (SH3 domain and tetratricopeptide repeats 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4C'] | GTTCTCTCTTCCTCTGCTCTGTAAATGGAGGCATCCTCCAGGGTTCTTCCCCCATTCCTATTTTCCATCCTCTTTTTTCTTTCTCCCTTTCACTGGGACTTCTCACCAGAATGTATTGGATTTCATGTCAGGATTTAAAATCACCAGGACATTTAATGAGAGCTCACTGGATTTAATGTCAGGATTCTAAAGTTCCAGAGGGAAGGCCTTGGGTTCAGCTCCTTCATCCCTGGGGTCCTCTGTTCCCCCTGTGGTAACATGAAGGGGTGGTTCAGAGCAATGTTCTCACCTTGGTTGCCCACCAGCCCCACCTGGGGAGC... | GTTCTCTCTTCCTCTGCTCTGTAAATGGAGGCATCCTCCAGGGTTCTTCCCCCATTCCTATTTTCCATCCTCTTTTTTCTTTCTCCCTTTCACTGGGACTTCTCACCAGAATGTATTGGATTTCATGTCAGGATTTAAAATCACCAGGACATTTAATGAGAGCTCACTGGATTTAATGTCAGGATTCTAAAGTTCCAGAGGGAAGGCCTTGGGTTCAGCTCCTTCATCCCTGGGGTCCTCTGTTCCCCCTGTGGTAACATGAAGGGGTGGTTCAGAGCAATGTTCTCACCTTGGTTGCCCACCAGCCCCACCTGGGGAGC... | pathogenic | 102,431 |
Mutation at chromosome 5, position 149044524, within SH3TC2 (SH3 domain and tetratricopeptide repeats 2): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TTCTAACATCAATCAGTGAGACTGACCAGCACAGCTGTTCGTGTAATGTCAGTGTTGAACTCAGAGGAATGTTCAAAGTACTATTATAACAGGTGGGTTCATTTGTGAATATTCCATGTTTGAATGATTTTTCCCTCCCTTTGCATCCTGCTTATTTCATGGCCTCTGGTAGCAAATATCTGAATAAGATCCCATCTCTACCCCTATGCCACACTCACCTTCCTGTATCAGGAGTCCCAGGTATATTGTTTCCAGGTGTTTATCATCTACAGACACTTGGATCTCTGTATCCTCCACCAATATGCAGTTGAGCCAGTACT... | TTCTAACATCAATCAGTGAGACTGACCAGCACAGCTGTTCGTGTAATGTCAGTGTTGAACTCAGAGGAATGTTCAAAGTACTATTATAACAGGTGGGTTCATTTGTGAATATTCCATGTTTGAATGATTTTTCCCTCCCTTTGCATCCTGCTTATTTCATGGCCTCTGGTAGCAAATATCTGAATAAGATCCCATCTCTACCCCTATGCCACACTCACCTTCCTGTATCAGGAGTCCCAGGTATATTGTTTCCAGGTGTTTATCATCTACAGACACTTGGATCTCTGTATCCTCCACCAATATGCAGTTGAGCCAGTACT... | benign | 102,447 |
Considering the genetic mutation at chromosome 5, position 149052125, impacting SH3TC2 (SH3 domain and tetratricopeptide repeats 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TGGTGTGAATCTCCTTACCATGCACATGAATCTATGTATATGGAACTCAAAAGACCTGGACTTAAATAAGCAGACTGCTCTTGAGATCTCAACCGTGAGAACTGATACTTAGAGCAGAACCCCTGTGCCCACAGTGGGATCCTACAGTACCCTCTGCATCACTAGAGCAGGGAAGAAGTCAAGCTCAATATCATTTTCATGAAGTGTATTGTGTCACAGATTAATCCTTCTCAAAGTCAGTTCTGTAATTGTGATAATATGTCTGACTGATTCTGTCTGCAACTGTACTCATTAAGGAGAGGTTGGCAGCTACAGCCATC... | TGGTGTGAATCTCCTTACCATGCACATGAATCTATGTATATGGAACTCAAAAGACCTGGACTTAAATAAGCAGACTGCTCTTGAGATCTCAACCGTGAGAACTGATACTTAGAGCAGAACCCCTGTGCCCACAGTGGGATCCTACAGTACCCTCTGCATCACTAGAGCAGGGAAGAAGTCAAGCTCAATATCATTTTCATGAAGTGTATTGTGTCACAGATTAATCCTTCTCAAAGTCAGTTCTGTAATTGTGATAATATGTCTGACTGATTCTGTCTGCAACTGTACTCATTAAGGAGAGGTTGGCAGCTACAGCCATC... | benign | 102,458 |
Is chromosome 5, position 149860653, gene PDE6A (phosphodiesterase 6A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TGTCTACAAAGATAGGTTTTAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTGGTCACCGCTGCTTGGTAAGCTGAGATGGAGGATTGCTTGAGCCCGGGCAGCTGGGGCTCCAGTGAGCTATGGTCATACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCTCGTCATGAAAGATAGAGAAAGAGAGAAATTCTATCTGCCACATCTTTTTTTTTTCTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTTCGCCTCCCAGGTTCA... | TGTCTACAAAGATAGGTTTTAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTGGTCACCGCTGCTTGGTAAGCTGAGATGGAGGATTGCTTGAGCCCGGGCAGCTGGGGCTCCAGTGAGCTATGGTCATACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCTCGTCATGAAAGATAGAGAAAGAGAGAAATTCTATCTGCCACATCTTTTTTTTTTCTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTTCGCCTCCCAGGTTCA... | benign | 102,460 |
Chromosome 5, position 149866192, gene PDE6A (phosphodiesterase 6A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_43'] | AGCCTCATTCCCTGGGGTGGCCCTGGCCTAGCACAAGGTCTGGGACACAAGGATACTCAGTAAATATTTTCTGAGTGAAATCGGGATGTTGAGAAGATGATTTTTTTTTTTTTGAAACTGAGTTTTGCTCTGTTGACCAGGCTAGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCAACCCAGCTAATTTGTTTTTTTGGATTTAGTAGAGATGGGGTTTCACCATTTTGGTCAGGCTGGTCTCGA... | AGCCTCATTCCCTGGGGTGGCCCTGGCCTAGCACAAGGTCTGGGACACAAGGATACTCAGTAAATATTTTCTGAGTGAAATCGGGATGTTGAGAAGATGATTTTTTTTTTTTTGAAACTGAGTTTTGCTCTGTTGACCAGGCTAGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCAACCCAGCTAATTTGTTTTTTTGGATTTAGTAGAGATGGGGTTTCACCATTTTGGTCAGGCTGGTCTCGA... | pathogenic | 102,465 |
Gene mutation in PDE6A (phosphodiesterase 6A) at chromosome 5, position 149884531—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_43'] | TGGGCCACATATTCATAAAAGGCCTCAAATTTACACTTCTCACCCCATTGTCAATTGAGGTGAATCATGGAAGCACACTGAGAAAACTGAAAAAAGACATTCACCAGACAACTTAAATTTGAGTCCCATTACCAACCATGCCAGACCATGCACTGTAAATTTCATACCAACCATAACCAATTTGTGACTAGCACAGCTATATTGTGGGATATTGTCCTATGTAAAGGAATACGTTAAAAATTAAGCCTATATGTTTTGAATAACACATTAACTATCACTCAAACTTTAATTCGGGCCGGGCATGATGGCTCACGCCTATA... | TGGGCCACATATTCATAAAAGGCCTCAAATTTACACTTCTCACCCCATTGTCAATTGAGGTGAATCATGGAAGCACACTGAGAAAACTGAAAAAAGACATTCACCAGACAACTTAAATTTGAGTCCCATTACCAACCATGCCAGACCATGCACTGTAAATTTCATACCAACCATAACCAATTTGTGACTAGCACAGCTATATTGTGGGATATTGTCCTATGTAAAGGAATACGTTAAAAATTAAGCCTATATGTTTTGAATAACACATTAACTATCACTCAAACTTTAATTCGGGCCGGGCATGATGGCTCACGCCTATA... | pathogenic | 102,474 |
Variant at chromosome position 149898501, chromosome 5, gene PDE6A (phosphodiesterase 6A): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases'] | AAGTGAAATTTATTAATTTCGTATTTATCTGCATCTGGCAGCTCCGCTTGCTGTATAAGGAATAGAGTCAGGTGATTAGGAAACATGAAGTGTTTCTGGGTGCCCACCTCCTGTCCAGCCCTGTCCCCATCCTGGGTCTGCTGGAAGGATCAGAACAGAGTGATGGGGAACATGCTTTGCAAGGAGAAACCCCTGCATGCTCAGGAGCACTTTGCACTTGTTATACATCGGGGCTCGTGCTGCCCCGGTTCAGCTCACCAGGATCTCAGCCAGCTCCTCTTCCTCACACTCCCATGGCTCCTTCCCATACACCTCTCTGG... | AAGTGAAATTTATTAATTTCGTATTTATCTGCATCTGGCAGCTCCGCTTGCTGTATAAGGAATAGAGTCAGGTGATTAGGAAACATGAAGTGTTTCTGGGTGCCCACCTCCTGTCCAGCCCTGTCCCCATCCTGGGTCTGCTGGAAGGATCAGAACAGAGTGATGGGGAACATGCTTTGCAAGGAGAAACCCCTGCATGCTCAGGAGCACTTTGCACTTGTTATACATCGGGGCTCGTGCTGCCCCGGTTCAGCTCACCAGGATCTCAGCCAGCTCCTCTTCCTCACACTCCCATGGCTCCTTCCCATACACCTCTCTGG... | pathogenic | 102,494 |
Classify the chromosome 5 variant at position 149903663 affecting gene PDE6A (phosphodiesterase 6A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_43'] | ATCTAAAAACAAGATTAAATTTGCTTTACTAATGTAGTTAAACTGCAATCAAGTGGATGACTTGAGTAAAGACTACGTTCTGCTGTGGTTGTGGTCAGGTTAGCAACCCTCAGCAAGTCTTCAGGCTTGTCGCATTGATGTGGTCAAAATCACAACACATGAAGTGCAATTTTAACTTTGGAATTATTTTCTGTCTAAGCTTTTTCATAATGTTCTTGAAGGAGAAAAAAGTAATTCTGACTTTTCTGAGTCATTTTTATTTCCTTCTGAATTATTTCCTGATTGATAATGATTTGTTTTTCTTTTATTTGTTTAGCCTA... | ATCTAAAAACAAGATTAAATTTGCTTTACTAATGTAGTTAAACTGCAATCAAGTGGATGACTTGAGTAAAGACTACGTTCTGCTGTGGTTGTGGTCAGGTTAGCAACCCTCAGCAAGTCTTCAGGCTTGTCGCATTGATGTGGTCAAAATCACAACACATGAAGTGCAATTTTAACTTTGGAATTATTTTCTGTCTAAGCTTTTTCATAATGTTCTTGAAGGAGAAAAAAGTAATTCTGACTTTTCTGAGTCATTTTTATTTCCTTCTGAATTATTTCCTGATTGATAATGATTTGTTTTTCTTTTATTTGTTTAGCCTA... | pathogenic | 102,499 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 149931171, gene PDE6A (phosphodiesterase 6A): what disease(s) if pathogenic? | benign | CCTAACAGAAAGGGCACAACTGTGTACTAGTAATATACTAGAAGTTTCATAATAACAGTATTAATAATAGATCAGATCTGAAAACTCAAATGTCCACCAACAGTGGAAATGAATAAATACACTGTAGATTGTACATATGATGGAAAATTCCACAGGAATAAAAATGAATGAACTCATGCTAAATGAAGTAATAAGAATGAATCAAAAGAAGTCAAACACCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCGGGAGATTGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACT... | CCTAACAGAAAGGGCACAACTGTGTACTAGTAATATACTAGAAGTTTCATAATAACAGTATTAATAATAGATCAGATCTGAAAACTCAAATGTCCACCAACAGTGGAAATGAATAAATACACTGTAGATTGTACATATGATGGAAAATTCCACAGGAATAAAAATGAATGAACTCATGCTAAATGAAGTAATAAGAATGAATCAAAAGAAGTCAAACACCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCGGGAGATTGAGACCATCCTGGCTAAAACAGTGAAACCCCGTCTCTACT... | benign | 102,508 |
Clinical classification of chromosome 5, position 149977662, gene SLC26A2 (solute carrier family 26 member 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | TTTTCTCAGGGTCAGTGGTCACCTAAGTCTATTCTTTCTTTCCTTATCTACTTCAGAAGACCATCAAAATATTTACTCATGTTAAACCTAAACAAAATGAATATGGGTTACTTTTACATATCTTGTGTTCTTGAATAAGTCATAGGTCCTGGATTTTGGCAGTTTGGTAACGTAAGGTTTATAGAACTTCACAAGGGCCCATTTTTCTGTCAGTTCCAAAACAAGAAACTTCCTGAGTCCTTCATCTAAAATATATTGTCTCGGCTGGGTGCAGTGGCTCGTGCCTGTTATCCCAGCACTTTGGGAGGCTGAGGCGGATG... | TTTTCTCAGGGTCAGTGGTCACCTAAGTCTATTCTTTCTTTCCTTATCTACTTCAGAAGACCATCAAAATATTTACTCATGTTAAACCTAAACAAAATGAATATGGGTTACTTTTACATATCTTGTGTTCTTGAATAAGTCATAGGTCCTGGATTTTGGCAGTTTGGTAACGTAAGGTTTATAGAACTTCACAAGGGCCCATTTTTCTGTCAGTTCCAAAACAAGAAACTTCCTGAGTCCTTCATCTAAAATATATTGTCTCGGCTGGGTGCAGTGGCTCGTGCCTGTTATCCCAGCACTTTGGGAGGCTGAGGCGGATG... | pathogenic | 102,526 |
Is the genetic variant on chromosome 5, position 149977788, gene SLC26A2 (solute carrier family 26 member 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | GTTCTTGAATAAGTCATAGGTCCTGGATTTTGGCAGTTTGGTAACGTAAGGTTTATAGAACTTCACAAGGGCCCATTTTTCTGTCAGTTCCAAAACAAGAAACTTCCTGAGTCCTTCATCTAAAATATATTGTCTCGGCTGGGTGCAGTGGCTCGTGCCTGTTATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTTAGGACTTCGAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTG... | GTTCTTGAATAAGTCATAGGTCCTGGATTTTGGCAGTTTGGTAACGTAAGGTTTATAGAACTTCACAAGGGCCCATTTTTCTGTCAGTTCCAAAACAAGAAACTTCCTGAGTCCTTCATCTAAAATATATTGTCTCGGCTGGGTGCAGTGGCTCGTGCCTGTTATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTTAGGACTTCGAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTG... | pathogenic | 102,530 |
Mutation found at chromosome 5 position 149977796, gene SLC26A2 (solute carrier family 26 member 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Achondrogenesis,_type_IB', 'Sulfate_transporter-related_osteochondrodysplasia'] | ATAAGTCATAGGTCCTGGATTTTGGCAGTTTGGTAACGTAAGGTTTATAGAACTTCACAAGGGCCCATTTTTCTGTCAGTTCCAAAACAAGAAACTTCCTGAGTCCTTCATCTAAAATATATTGTCTCGGCTGGGTGCAGTGGCTCGTGCCTGTTATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTTAGGACTTCGAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGATAAGA... | ATAAGTCATAGGTCCTGGATTTTGGCAGTTTGGTAACGTAAGGTTTATAGAACTTCACAAGGGCCCATTTTTCTGTCAGTTCCAAAACAAGAAACTTCCTGAGTCCTTCATCTAAAATATATTGTCTCGGCTGGGTGCAGTGGCTCGTGCCTGTTATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTTAGGACTTCGAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGATAAGA... | pathogenic | 102,531 |
Evaluate if the mutation on chromosome 5 at position 149977886 in SLC26A2 (solute carrier family 26 member 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | GAAACTTCCTGAGTCCTTCATCTAAAATATATTGTCTCGGCTGGGTGCAGTGGCTCGTGCCTGTTATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTTAGGACTTCGAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGATAAGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTC... | GAAACTTCCTGAGTCCTTCATCTAAAATATATTGTCTCGGCTGGGTGCAGTGGCTCGTGCCTGTTATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTTAGGACTTCGAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGATAAGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTC... | pathogenic | 102,534 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 149977948, gene SLC26A2 (solute carrier family 26 member 2): what disease(s) if pathogenic? | pathogenic; ['Achondrogenesis,_type_IB'] | GTTATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTTAGGACTTCGAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGATAAGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAATGTCTCTATCTGGCCACAGTCACAAATGTTTGTTCATTTGTTCAT... | GTTATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTTAGGACTTCGAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGATAAGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAATGTCTCTATCTGGCCACAGTCACAAATGTTTGTTCATTTGTTCAT... | pathogenic | 102,537 |
Is the variant located on chromosome 5 at position 149978040, gene SLC26A2 (solute carrier family 26 member 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | TACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGATAAGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAATGTCTCTATCTGGCCACAGTCACAAATGTTTGTTCATTTGTTCATTCATTCATTCAAATGTTTTGTAAGCCTGCTATCTCAGCGTTACTACATTCCATTCAGATTACACTGATGAACAAGATGTCTTTCCTCCAGGA... | TACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGATAAGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAATGTCTCTATCTGGCCACAGTCACAAATGTTTGTTCATTTGTTCATTCATTCATTCAAATGTTTTGTAAGCCTGCTATCTCAGCGTTACTACATTCCATTCAGATTACACTGATGAACAAGATGTCTTTCCTCCAGGA... | pathogenic | 102,539 |
For chromosome 5, position 149978083, gene SLC26A2 (solute carrier family 26 member 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | GTAATCCCAGCTACTCAGGAGGCTGAGATAAGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAATGTCTCTATCTGGCCACAGTCACAAATGTTTGTTCATTTGTTCATTCATTCATTCAAATGTTTTGTAAGCCTGCTATCTCAGCGTTACTACATTCCATTCAGATTACACTGATGAACAAGATGTCTTTCCTCCAGGAGCTAGAGAGATTCCTACTTCACTAATACAAGAGTGTGGTTAGT... | GTAATCCCAGCTACTCAGGAGGCTGAGATAAGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAATGTCTCTATCTGGCCACAGTCACAAATGTTTGTTCATTTGTTCATTCATTCATTCAAATGTTTTGTAAGCCTGCTATCTCAGCGTTACTACATTCCATTCAGATTACACTGATGAACAAGATGTCTTTCCTCCAGGAGCTAGAGAGATTCCTACTTCACTAATACAAGAGTGTGGTTAGT... | pathogenic | 102,540 |
Variant chromosome 5, position 149978083, gene SLC26A2 (solute carrier family 26 member 2): benign or pathogenic? Disease(s)? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | GTAATCCCAGCTACTCAGGAGGCTGAGATAAGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAATGTCTCTATCTGGCCACAGTCACAAATGTTTGTTCATTTGTTCATTCATTCATTCAAATGTTTTGTAAGCCTGCTATCTCAGCGTTACTACATTCCATTCAGATTACACTGATGAACAAGATGTCTTTCCTCCAGGAGCTAGAGAGATTCCTACTTCACTAATACAAGAGTGTGGTTAGT... | GTAATCCCAGCTACTCAGGAGGCTGAGATAAGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAATGTCTCTATCTGGCCACAGTCACAAATGTTTGTTCATTTGTTCATTCATTCATTCAAATGTTTTGTAAGCCTGCTATCTCAGCGTTACTACATTCCATTCAGATTACACTGATGAACAAGATGTCTTTCCTCCAGGAGCTAGAGAGATTCCTACTTCACTAATACAAGAGTGTGGTTAGT... | pathogenic | 102,541 |
The mutation in gene SLC26A2 (solute carrier family 26 member 2) at chromosome 5, position 149978100—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4', 'Sulfate_transporter-related_osteochondrodysplasia'] | GGAGGCTGAGATAAGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAATGTCTCTATCTGGCCACAGTCACAAATGTTTGTTCATTTGTTCATTCATTCATTCAAATGTTTTGTAAGCCTGCTATCTCAGCGTTACTACATTCCATTCAGATTACACTGATGAACAAGATGTCTTTCCTCCAGGAGCTAGAGAGATTCCTACTTCACTAATACAAGAGTGTGGTTAGTACTCTAATGGAGGTGCA... | GGAGGCTGAGATAAGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAATGTCTCTATCTGGCCACAGTCACAAATGTTTGTTCATTTGTTCATTCATTCATTCAAATGTTTTGTAAGCCTGCTATCTCAGCGTTACTACATTCCATTCAGATTACACTGATGAACAAGATGTCTTTCCTCCAGGAGCTAGAGAGATTCCTACTTCACTAATACAAGAGTGTGGTTAGTACTCTAATGGAGGTGCA... | pathogenic | 102,542 |
Variant on chromosome 5, at position 149978134, affecting SLC26A2 (solute carrier family 26 member 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4', 'Sulfate_transporter-related_osteochondrodysplasia'] | AGGTGGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAATGTCTCTATCTGGCCACAGTCACAAATGTTTGTTCATTTGTTCATTCATTCATTCAAATGTTTTGTAAGCCTGCTATCTCAGCGTTACTACATTCCATTCAGATTACACTGATGAACAAGATGTCTTTCCTCCAGGAGCTAGAGAGATTCCTACTTCACTAATACAAGAGTGTGGTTAGTACTCTAATGGAGGTGCAACATGCTATGGGACACAGAGGGTGTAGTATTTCA... | AGGTGGAGGTTGTAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAATGTCTCTATCTGGCCACAGTCACAAATGTTTGTTCATTTGTTCATTCATTCATTCAAATGTTTTGTAAGCCTGCTATCTCAGCGTTACTACATTCCATTCAGATTACACTGATGAACAAGATGTCTTTCCTCCAGGAGCTAGAGAGATTCCTACTTCACTAATACAAGAGTGTGGTTAGTACTCTAATGGAGGTGCAACATGCTATGGGACACAGAGGGTGTAGTATTTCA... | pathogenic | 102,544 |
Gene SLC26A2 (solute carrier family 26 member 2) variant at chromosome 5, position 149978224—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | GTCTCTATCTGGCCACAGTCACAAATGTTTGTTCATTTGTTCATTCATTCATTCAAATGTTTTGTAAGCCTGCTATCTCAGCGTTACTACATTCCATTCAGATTACACTGATGAACAAGATGTCTTTCCTCCAGGAGCTAGAGAGATTCCTACTTCACTAATACAAGAGTGTGGTTAGTACTCTAATGGAGGTGCAACATGCTATGGGACACAGAGGGTGTAGTATTTCATTTGGGCTAGGGGAGATTGGTTAGTGCTTTCTGGAAAAGGTAGCATTGTAACTGGGTTTTAAAAAATTATTAGGATCTTGACAGGCAAAG... | GTCTCTATCTGGCCACAGTCACAAATGTTTGTTCATTTGTTCATTCATTCATTCAAATGTTTTGTAAGCCTGCTATCTCAGCGTTACTACATTCCATTCAGATTACACTGATGAACAAGATGTCTTTCCTCCAGGAGCTAGAGAGATTCCTACTTCACTAATACAAGAGTGTGGTTAGTACTCTAATGGAGGTGCAACATGCTATGGGACACAGAGGGTGTAGTATTTCATTTGGGCTAGGGGAGATTGGTTAGTGCTTTCTGGAAAAGGTAGCATTGTAACTGGGTTTTAAAAAATTATTAGGATCTTGACAGGCAAAG... | pathogenic | 102,547 |
Chromosome 5, position 149978291, gene SLC26A2 (solute carrier family 26 member 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Achondrogenesis,_type_IB', 'Multiple_epiphyseal_dysplasia_type_4'] | GCCTGCTATCTCAGCGTTACTACATTCCATTCAGATTACACTGATGAACAAGATGTCTTTCCTCCAGGAGCTAGAGAGATTCCTACTTCACTAATACAAGAGTGTGGTTAGTACTCTAATGGAGGTGCAACATGCTATGGGACACAGAGGGTGTAGTATTTCATTTGGGCTAGGGGAGATTGGTTAGTGCTTTCTGGAAAAGGTAGCATTGTAACTGGGTTTTAAAAAATTATTAGGATCTTGACAGGCAAAGAGGTGGATGGCCATTCTAAGCTAAGTAAACAGCTTATGTAAAGGCACTAATTCATGAAGCATTTGGT... | GCCTGCTATCTCAGCGTTACTACATTCCATTCAGATTACACTGATGAACAAGATGTCTTTCCTCCAGGAGCTAGAGAGATTCCTACTTCACTAATACAAGAGTGTGGTTAGTACTCTAATGGAGGTGCAACATGCTATGGGACACAGAGGGTGTAGTATTTCATTTGGGCTAGGGGAGATTGGTTAGTGCTTTCTGGAAAAGGTAGCATTGTAACTGGGTTTTAAAAAATTATTAGGATCTTGACAGGCAAAGAGGTGGATGGCCATTCTAAGCTAAGTAAACAGCTTATGTAAAGGCACTAATTCATGAAGCATTTGGT... | pathogenic | 102,548 |
A mutation at chromosome position 149980295 on chromosome 5 in gene SLC26A2 (solute carrier family 26 member 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | AATGGGAGCACATTATTAAATCATACATCAGACAGGATATGTGACAAAAGTTGCTATGCAATTATGGTTGGCAGCACTGTAACCTTTATAGCTGGAGTTTATCAGGTAAGCAGCAATGAAACAATTGGTTATTTCTAGAAAAGTAATCTAGTACATGAAATCTCATATCTCTAAGGGATCTGAGGAATCACAATAATTAAAGGTATCATTTATTGAGAGTTCAGGATATATGAAGGGTAGAGGCAAAATTCAAACCCTAACCTGACTCCACAGGTAATATAAGGCTGGTTCACTGGACCTCCACCACCCAGTACAACTCC... | AATGGGAGCACATTATTAAATCATACATCAGACAGGATATGTGACAAAAGTTGCTATGCAATTATGGTTGGCAGCACTGTAACCTTTATAGCTGGAGTTTATCAGGTAAGCAGCAATGAAACAATTGGTTATTTCTAGAAAAGTAATCTAGTACATGAAATCTCATATCTCTAAGGGATCTGAGGAATCACAATAATTAAAGGTATCATTTATTGAGAGTTCAGGATATATGAAGGGTAGAGGCAAAATTCAAACCCTAACCTGACTCCACAGGTAATATAAGGCTGGTTCACTGGACCTCCACCACCCAGTACAACTCC... | pathogenic | 102,553 |
A genetic alteration at chromosome 5, position 149980325, in gene SLC26A2 (solute carrier family 26 member 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | GACAGGATATGTGACAAAAGTTGCTATGCAATTATGGTTGGCAGCACTGTAACCTTTATAGCTGGAGTTTATCAGGTAAGCAGCAATGAAACAATTGGTTATTTCTAGAAAAGTAATCTAGTACATGAAATCTCATATCTCTAAGGGATCTGAGGAATCACAATAATTAAAGGTATCATTTATTGAGAGTTCAGGATATATGAAGGGTAGAGGCAAAATTCAAACCCTAACCTGACTCCACAGGTAATATAAGGCTGGTTCACTGGACCTCCACCACCCAGTACAACTCCTTAATTTTACATGTCAGAAAATCTTGGCTT... | GACAGGATATGTGACAAAAGTTGCTATGCAATTATGGTTGGCAGCACTGTAACCTTTATAGCTGGAGTTTATCAGGTAAGCAGCAATGAAACAATTGGTTATTTCTAGAAAAGTAATCTAGTACATGAAATCTCATATCTCTAAGGGATCTGAGGAATCACAATAATTAAAGGTATCATTTATTGAGAGTTCAGGATATATGAAGGGTAGAGGCAAAATTCAAACCCTAACCTGACTCCACAGGTAATATAAGGCTGGTTCACTGGACCTCCACCACCCAGTACAACTCCTTAATTTTACATGTCAGAAAATCTTGGCTT... | pathogenic | 102,554 |
Located at chromosome 5 position 149980410, the variant affecting gene SLC26A2 (solute carrier family 26 member 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | ATGAAACAATTGGTTATTTCTAGAAAAGTAATCTAGTACATGAAATCTCATATCTCTAAGGGATCTGAGGAATCACAATAATTAAAGGTATCATTTATTGAGAGTTCAGGATATATGAAGGGTAGAGGCAAAATTCAAACCCTAACCTGACTCCACAGGTAATATAAGGCTGGTTCACTGGACCTCCACCACCCAGTACAACTCCTTAATTTTACATGTCAGAAAATCTTGGCTTTGCTTGAGATTATTTGTGGCTGGTTATTGGCAGAGTCAGCATTAGCAGTTAGGCAAGTGGGTAACAGAATGGAGTTGAGAGTGCA... | ATGAAACAATTGGTTATTTCTAGAAAAGTAATCTAGTACATGAAATCTCATATCTCTAAGGGATCTGAGGAATCACAATAATTAAAGGTATCATTTATTGAGAGTTCAGGATATATGAAGGGTAGAGGCAAAATTCAAACCCTAACCTGACTCCACAGGTAATATAAGGCTGGTTCACTGGACCTCCACCACCCAGTACAACTCCTTAATTTTACATGTCAGAAAATCTTGGCTTTGCTTGAGATTATTTGTGGCTGGTTATTGGCAGAGTCAGCATTAGCAGTTAGGCAAGTGGGTAACAGAATGGAGTTGAGAGTGCA... | pathogenic | 102,557 |
Located at chromosome 5 position 149980412, the variant affecting gene SLC26A2 (solute carrier family 26 member 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | GAAACAATTGGTTATTTCTAGAAAAGTAATCTAGTACATGAAATCTCATATCTCTAAGGGATCTGAGGAATCACAATAATTAAAGGTATCATTTATTGAGAGTTCAGGATATATGAAGGGTAGAGGCAAAATTCAAACCCTAACCTGACTCCACAGGTAATATAAGGCTGGTTCACTGGACCTCCACCACCCAGTACAACTCCTTAATTTTACATGTCAGAAAATCTTGGCTTTGCTTGAGATTATTTGTGGCTGGTTATTGGCAGAGTCAGCATTAGCAGTTAGGCAAGTGGGTAACAGAATGGAGTTGAGAGTGCAGG... | GAAACAATTGGTTATTTCTAGAAAAGTAATCTAGTACATGAAATCTCATATCTCTAAGGGATCTGAGGAATCACAATAATTAAAGGTATCATTTATTGAGAGTTCAGGATATATGAAGGGTAGAGGCAAAATTCAAACCCTAACCTGACTCCACAGGTAATATAAGGCTGGTTCACTGGACCTCCACCACCCAGTACAACTCCTTAATTTTACATGTCAGAAAATCTTGGCTTTGCTTGAGATTATTTGTGGCTGGTTATTGGCAGAGTCAGCATTAGCAGTTAGGCAAGTGGGTAACAGAATGGAGTTGAGAGTGCAGG... | pathogenic | 102,558 |
Assess the variant on chromosome 5, position 149980495, impacting SLC26A2 (solute carrier family 26 member 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | AGGTATCATTTATTGAGAGTTCAGGATATATGAAGGGTAGAGGCAAAATTCAAACCCTAACCTGACTCCACAGGTAATATAAGGCTGGTTCACTGGACCTCCACCACCCAGTACAACTCCTTAATTTTACATGTCAGAAAATCTTGGCTTTGCTTGAGATTATTTGTGGCTGGTTATTGGCAGAGTCAGCATTAGCAGTTAGGCAAGTGGGTAACAGAATGGAGTTGAGAGTGCAGGAGTTTCTCACTTTTTTTTTTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGC... | AGGTATCATTTATTGAGAGTTCAGGATATATGAAGGGTAGAGGCAAAATTCAAACCCTAACCTGACTCCACAGGTAATATAAGGCTGGTTCACTGGACCTCCACCACCCAGTACAACTCCTTAATTTTACATGTCAGAAAATCTTGGCTTTGCTTGAGATTATTTGTGGCTGGTTATTGGCAGAGTCAGCATTAGCAGTTAGGCAAGTGGGTAACAGAATGGAGTTGAGAGTGCAGGAGTTTCTCACTTTTTTTTTTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGC... | pathogenic | 102,561 |
Evaluate this variant at chromosome 5, position 149980514, gene SLC26A2 (solute carrier family 26 member 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | TTCAGGATATATGAAGGGTAGAGGCAAAATTCAAACCCTAACCTGACTCCACAGGTAATATAAGGCTGGTTCACTGGACCTCCACCACCCAGTACAACTCCTTAATTTTACATGTCAGAAAATCTTGGCTTTGCTTGAGATTATTTGTGGCTGGTTATTGGCAGAGTCAGCATTAGCAGTTAGGCAAGTGGGTAACAGAATGGAGTTGAGAGTGCAGGAGTTTCTCACTTTTTTTTTTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGCAACGTCCGCCTCCCTGGCT... | TTCAGGATATATGAAGGGTAGAGGCAAAATTCAAACCCTAACCTGACTCCACAGGTAATATAAGGCTGGTTCACTGGACCTCCACCACCCAGTACAACTCCTTAATTTTACATGTCAGAAAATCTTGGCTTTGCTTGAGATTATTTGTGGCTGGTTATTGGCAGAGTCAGCATTAGCAGTTAGGCAAGTGGGTAACAGAATGGAGTTGAGAGTGCAGGAGTTTCTCACTTTTTTTTTTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGCAACGTCCGCCTCCCTGGCT... | pathogenic | 102,563 |
Variant on chromosome 5, at position 149980516, affecting SLC26A2 (solute carrier family 26 member 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | CAGGATATATGAAGGGTAGAGGCAAAATTCAAACCCTAACCTGACTCCACAGGTAATATAAGGCTGGTTCACTGGACCTCCACCACCCAGTACAACTCCTTAATTTTACATGTCAGAAAATCTTGGCTTTGCTTGAGATTATTTGTGGCTGGTTATTGGCAGAGTCAGCATTAGCAGTTAGGCAAGTGGGTAACAGAATGGAGTTGAGAGTGCAGGAGTTTCTCACTTTTTTTTTTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGCAACGTCCGCCTCCCTGGCTCA... | CAGGATATATGAAGGGTAGAGGCAAAATTCAAACCCTAACCTGACTCCACAGGTAATATAAGGCTGGTTCACTGGACCTCCACCACCCAGTACAACTCCTTAATTTTACATGTCAGAAAATCTTGGCTTTGCTTGAGATTATTTGTGGCTGGTTATTGGCAGAGTCAGCATTAGCAGTTAGGCAAGTGGGTAACAGAATGGAGTTGAGAGTGCAGGAGTTTCTCACTTTTTTTTTTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGCAACGTCCGCCTCCCTGGCTCA... | pathogenic | 102,564 |
A genetic variant at chromosome 5, position 149980602, affecting gene SLC26A2 (solute carrier family 26 member 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4', 'Sulfate_transporter-related_osteochondrodysplasia'] | CCAGTACAACTCCTTAATTTTACATGTCAGAAAATCTTGGCTTTGCTTGAGATTATTTGTGGCTGGTTATTGGCAGAGTCAGCATTAGCAGTTAGGCAAGTGGGTAACAGAATGGAGTTGAGAGTGCAGGAGTTTCTCACTTTTTTTTTTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGCAACGTCCGCCTCCCTGGCTCAAGCAGTCCTCCTACCTCAACCTCCTGAGTAGCTAGGACTACAGGCACATGCTACCACACCTGGCTAATTTTATTTTATTTTATTTT... | CCAGTACAACTCCTTAATTTTACATGTCAGAAAATCTTGGCTTTGCTTGAGATTATTTGTGGCTGGTTATTGGCAGAGTCAGCATTAGCAGTTAGGCAAGTGGGTAACAGAATGGAGTTGAGAGTGCAGGAGTTTCTCACTTTTTTTTTTTTTCTGGAGACAGGGTCTCACTCTGTCACGCTGGAGTGCAGTGGCACTATCTTAGTTCACTGCAACGTCCGCCTCCCTGGCTCAAGCAGTCCTCCTACCTCAACCTCCTGAGTAGCTAGGACTACAGGCACATGCTACCACACCTGGCTAATTTTATTTTATTTTATTTT... | pathogenic | 102,566 |
Regarding the variant at chromosome 5 and position 149980903, affecting gene SLC26A2 (solute carrier family 26 member 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | TTTTATTTTATTTTATTTTATTTTATTTTTTATTTTTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAAATTCTAAATGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAA... | TTTTATTTTATTTTATTTTATTTTATTTTTTATTTTTATTTTTTGTAGAGACAGGGTTTTGCCACGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAAATTCTAAATGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAA... | pathogenic | 102,571 |
A genetic variant on chromosome 5, position 149980983, affects the gene SLC26A2 (solute carrier family 26 member 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | TTCAAACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAAATTCTAAATGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAG... | TTCAAACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAAATTCTAAATGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAG... | pathogenic | 102,574 |
A mutation at chromosome position 149980988 on chromosome 5 in gene SLC26A2 (solute carrier family 26 member 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | ACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAAATTCTAAATGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTA... | ACTCCTGAGCTCAAGCAATCCTCCCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAAATTCTAAATGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTA... | pathogenic | 102,575 |
Evaluate if the mutation on chromosome 5 at position 149981011 in SLC26A2 (solute carrier family 26 member 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4', 'Osteochondrodysplasia'] | CCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAAATTCTAAATGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTT... | CCGTCTTGGCCTCCCAAAGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAAATTCTAAATGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTT... | pathogenic | 102,577 |
Determine if the mutation at chromosome 5, position 149981028 in gene SLC26A2 (solute carrier family 26 member 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | AGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAAATTCTAAATGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAG... | AGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAAATTCTAAATGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAG... | pathogenic | 102,579 |
Is the chromosome 5, position 149981028 variant in SLC26A2 (solute carrier family 26 member 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | AGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAAATTCTAAATGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAG... | AGTGCTGGGATTATAGCCATGAGCCACCACACCCAGCCTCAAATTCTAAATGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAG... | pathogenic | 102,580 |
Is the genetic mutation found on chromosome 5 at position 149981078, within the gene SLC26A2 (solute carrier family 26 member 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Connective_tissue_disorder', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | TGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAG... | TGTCTCTTACCTTCCATTAAAATTGCTGATCTATTGAGCAACTCTTACTAAAGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAG... | pathogenic | 102,583 |
Located at chromosome 5 position 149981129, the variant affecting gene SLC26A2 (solute carrier family 26 member 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | AGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATA... | AGGTAGTGGTTGTCTTGGATTGTTGGGGAGGGAGGGAAAAAGTTGGGGACCACAGTTTCATATTATCAGCCAGGAGAAAGGATAAGAAATCAAATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATA... | pathogenic | 102,585 |
A genetic variant at chromosome 5, position 149981221, affecting gene SLC26A2 (solute carrier family 26 member 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | AATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATAAGTCTACTTACTTATTTATTATTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAA... | AATTCTTGAGTCTCCCATAGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATAAGTCTACTTACTTATTTATTATTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAA... | pathogenic | 102,586 |
A mutation at chromosome position 149981239 on chromosome 5 in gene SLC26A2 (solute carrier family 26 member 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | AGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATAAGTCTACTTACTTATTTATTATTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGC... | AGAATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATAAGTCTACTTACTTATTTATTATTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGC... | pathogenic | 102,588 |
Gene SLC26A2 (solute carrier family 26 member 2) variant at chromosome 5, position 149981242—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4', 'SLC26A2-related_disorder', 'Sulfate_transporter-related_osteochondrodysplasia'] | ATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATAAGTCTACTTACTTATTTATTATTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGCTGG... | ATCCACTAATCTGTCATTATCATCATGCCCCTGGCTTTTGGCATCCAGGAGTCAGTGCCAGGATTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATAAGTCTACTTACTTATTTATTATTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGCTGG... | pathogenic | 102,590 |
The mutation in gene SLC26A2 (solute carrier family 26 member 2) at chromosome 5, position 149981305—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | TTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATAAGTCTACTTACTTATTTATTATTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAA... | TTAAACCTTCTCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATAAGTCTACTTACTTATTTATTATTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAA... | pathogenic | 102,593 |
A genetic variant at chromosome 5, position 149981315, affecting gene SLC26A2 (solute carrier family 26 member 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Connective_tissue_disorder', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4', 'Sulfate_transporter-related_osteochondrodysplasia'] | TCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATAAGTCTACTTACTTATTTATTATTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAA... | TCTAATGCAGGCATTTCAAACCAACAAGGGAAGGGGAAGAGTAGCTCACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATAAGTCTACTTACTTATTTATTATTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAA... | pathogenic | 102,595 |
Determine whether the variant at chromosome 5, position 149981362, in gene SLC26A2 (solute carrier family 26 member 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Achondrogenesis,_type_IB', 'Diastrophic_dysplasia'] | ACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATAAGTCTACTTACTTATTTATTATTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAA... | ACTTTAGTTGGTGCTCAGATGAGTGGGGAGGGAGAGTGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATAAGTCTACTTACTTATTTATTATTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAA... | pathogenic | 102,597 |
The chromosome 5, position 149981398 genetic variant in gene SLC26A2 (solute carrier family 26 member 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | TGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATAAGTCTACTTACTTATTTATTATTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAG... | TGAAGATGGTGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATAAGTCTACTTACTTATTTATTATTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAG... | pathogenic | 102,600 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 149981407, gene SLC26A2 (solute carrier family 26 member 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | TGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATAAGTCTACTTACTTATTTATTATTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATA... | TGTGAAGATGAGCTGTCTACTCATATATAATGGTAAATAATAAGTCTACTTACTTATTTATTATTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATA... | pathogenic | 102,601 |
Mutation found at chromosome 5 position 149981439, gene SLC26A2 (solute carrier family 26 member 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | GTAAATAATAAGTCTACTTACTTATTTATTATTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTT... | GTAAATAATAAGTCTACTTACTTATTTATTATTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTT... | pathogenic | 102,602 |
Chromosome 5, position 149981470, gene SLC26A2 (solute carrier family 26 member 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | TTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTTAGTATGAGGTTAAAGATAATCTACAATAATT... | TTTATTCATTTATTTATAAAGAGACAGGGTCTCTCTATGACCAAACTCCTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTTAGTATGAGGTTAAAGATAATCTACAATAATT... | pathogenic | 102,603 |
Variant on chromosome 5, at position 149981518, affecting SLC26A2 (solute carrier family 26 member 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | CTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTTAGTATGAGGTTAAAGATAATCTACAATAATTTTTAAAGTGTGATTCTACTTTGATGTAAATCTAATTTTTTGTTTTACC... | CTGGGCTCAAGTGATCCTCCCAATATTGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTTAGTATGAGGTTAAAGATAATCTACAATAATTTTTAAAGTGTGATTCTACTTTGATGTAAATCTAATTTTTTGTTTTACC... | pathogenic | 102,604 |
Is the chromosome 5, position 149981542 variant in SLC26A2 (solute carrier family 26 member 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | ATTGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTTAGTATGAGGTTAAAGATAATCTACAATAATTTTTAAAGTGTGATTCTACTTTGATGTAAATCTAATTTTTTGTTTTACCAATTAAAACTTCACTTGTACACTT... | ATTGCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTTAGTATGAGGTTAAAGATAATCTACAATAATTTTTAAAGTGTGATTCTACTTTGATGTAAATCTAATTTTTTGTTTTACCAATTAAAACTTCACTTGTACACTT... | pathogenic | 102,605 |
A genetic alteration at chromosome 5, position 149981545, in gene SLC26A2 (solute carrier family 26 member 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | GCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTTAGTATGAGGTTAAAGATAATCTACAATAATTTTTAAAGTGTGATTCTACTTTGATGTAAATCTAATTTTTTGTTTTACCAATTAAAACTTCACTTGTACACTTGCT... | GCCTCCCCAAATGCTGGGATTACAGGCATGAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTTAGTATGAGGTTAAAGATAATCTACAATAATTTTTAAAGTGTGATTCTACTTTGATGTAAATCTAATTTTTTGTTTTACCAATTAAAACTTCACTTGTACACTTGCT... | pathogenic | 102,606 |
Does the chromosome 5 mutation at position 149981574 within gene SLC26A2 (solute carrier family 26 member 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | GAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTTAGTATGAGGTTAAAGATAATCTACAATAATTTTTAAAGTGTGATTCTACTTTGATGTAAATCTAATTTTTTGTTTTACCAATTAAAACTTCACTTGTACACTTGCTCTTAGCCAAGAGGCTGAGAAGCCGTAAGA... | GAGCCATCACGCCCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTTAGTATGAGGTTAAAGATAATCTACAATAATTTTTAAAGTGTGATTCTACTTTGATGTAAATCTAATTTTTTGTTTTACCAATTAAAACTTCACTTGTACACTTGCTCTTAGCCAAGAGGCTGAGAAGCCGTAAGA... | pathogenic | 102,609 |
Clinical classification of chromosome 5, position 149981586, gene SLC26A2 (solute carrier family 26 member 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | CCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTTAGTATGAGGTTAAAGATAATCTACAATAATTTTTAAAGTGTGATTCTACTTTGATGTAAATCTAATTTTTTGTTTTACCAATTAAAACTTCACTTGTACACTTGCTCTTAGCCAAGAGGCTGAGAAGCCGTAAGACTTCACTTTTAC... | CCAACCAACTTTTGCCTTTTTGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTTAGTATGAGGTTAAAGATAATCTACAATAATTTTTAAAGTGTGATTCTACTTTGATGTAAATCTAATTTTTTGTTTTACCAATTAAAACTTCACTTGTACACTTGCTCTTAGCCAAGAGGCTGAGAAGCCGTAAGACTTCACTTTTAC... | pathogenic | 102,610 |
Gene SLC26A2 (solute carrier family 26 member 2) variant at chromosome position 149981606 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | TGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTTAGTATGAGGTTAAAGATAATCTACAATAATTTTTAAAGTGTGATTCTACTTTGATGTAAATCTAATTTTTTGTTTTACCAATTAAAACTTCACTTGTACACTTGCTCTTAGCCAAGAGGCTGAGAAGCCGTAAGACTTCACTTTTACAGTAGTGATTTGTAATTTAA... | TGTTAGTATGTCCCACCAAGAAGGAAGAAGGCATAACAATTCTGAAAACTTATTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTTAGTATGAGGTTAAAGATAATCTACAATAATTTTTAAAGTGTGATTCTACTTTGATGTAAATCTAATTTTTTGTTTTACCAATTAAAACTTCACTTGTACACTTGCTCTTAGCCAAGAGGCTGAGAAGCCGTAAGACTTCACTTTTACAGTAGTGATTTGTAATTTAA... | pathogenic | 102,611 |
Located at chromosome 5 position 149981658, the variant affecting gene SLC26A2 (solute carrier family 26 member 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4'] | TTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTTAGTATGAGGTTAAAGATAATCTACAATAATTTTTAAAGTGTGATTCTACTTTGATGTAAATCTAATTTTTTGTTTTACCAATTAAAACTTCACTTGTACACTTGCTCTTAGCCAAGAGGCTGAGAAGCCGTAAGACTTCACTTTTACAGTAGTGATTTGTAATTTAAGGAAAATACTTGGTTTCTTAACTAGAATAATTTTTTCCAATTTGAAGTTTTC... | TTAGACAGAGGAAAATATAAAGAAGTAAAAATGCAGAATTTTTATTAATATGGGAGACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTTAGTATGAGGTTAAAGATAATCTACAATAATTTTTAAAGTGTGATTCTACTTTGATGTAAATCTAATTTTTTGTTTTACCAATTAAAACTTCACTTGTACACTTGCTCTTAGCCAAGAGGCTGAGAAGCCGTAAGACTTCACTTTTACAGTAGTGATTTGTAATTTAAGGAAAATACTTGGTTTCTTAACTAGAATAATTTTTTCCAATTTGAAGTTTTC... | pathogenic | 102,614 |
Determine if the mutation at chromosome 5, position 149981713 in gene SLC26A2 (solute carrier family 26 member 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Achondrogenesis,_type_IB', 'Atelosteogenesis_type_II', 'Diastrophic_dysplasia', 'Multiple_epiphyseal_dysplasia_type_4', 'Sulfate_transporter-related_osteochondrodysplasia'] | GACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTTAGTATGAGGTTAAAGATAATCTACAATAATTTTTAAAGTGTGATTCTACTTTGATGTAAATCTAATTTTTTGTTTTACCAATTAAAACTTCACTTGTACACTTGCTCTTAGCCAAGAGGCTGAGAAGCCGTAAGACTTCACTTTTACAGTAGTGATTTGTAATTTAAGGAAAATACTTGGTTTCTTAACTAGAATAATTTTTTCCAATTTGAAGTTTTCTTGTGGATCCTTGAGAATGTTTTTCTTTTAAAAGAGGTCTGTTCTTTGTGATGGG... | GACAGTGTGGCATAAGTACATATATACTGCATGAGAATGGTTTCTTAGTATGAGGTTAAAGATAATCTACAATAATTTTTAAAGTGTGATTCTACTTTGATGTAAATCTAATTTTTTGTTTTACCAATTAAAACTTCACTTGTACACTTGCTCTTAGCCAAGAGGCTGAGAAGCCGTAAGACTTCACTTTTACAGTAGTGATTTGTAATTTAAGGAAAATACTTGGTTTCTTAACTAGAATAATTTTTTCCAATTTGAAGTTTTCTTGTGGATCCTTGAGAATGTTTTTCTTTTAAAAGAGGTCTGTTCTTTGTGATGGG... | pathogenic | 102,615 |
Classify the chromosome 5 variant at position 149983704 affecting gene SLC26A2 (solute carrier family 26 member 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CCACTGTGAGGGATTCCCTAACCAACGGAGAATATTGCAAAAAGGAAGAAGAAAACCTTCTCTTCTATAGTGTGTATGAAGCGATGGCTTTTGCAGAAGTATCTAAAAATCAGAAAGGAGTATGTGTTCCCAATGGTCTGAGTCTTAGTAGTGATTAATTGAGAAGGTAGATAGAAGAATGTCTAGCCAATAGGTTAAAATTTCAAGTGTCCAACATTTCCCAGTTCCACAGTGGGAAATTTTGCACACTTGAAATTTTAACCAAGTGGCTAGATATTATTCCTCCTTTGAAGCTAATGGCATTTGTATATACACACTGC... | CCACTGTGAGGGATTCCCTAACCAACGGAGAATATTGCAAAAAGGAAGAAGAAAACCTTCTCTTCTATAGTGTGTATGAAGCGATGGCTTTTGCAGAAGTATCTAAAAATCAGAAAGGAGTATGTGTTCCCAATGGTCTGAGTCTTAGTAGTGATTAATTGAGAAGGTAGATAGAAGAATGTCTAGCCAATAGGTTAAAATTTCAAGTGTCCAACATTTCCCAGTTCCACAGTGGGAAATTTTGCACACTTGAAATTTTAACCAAGTGGCTAGATATTATTCCTCCTTTGAAGCTAATGGCATTTGTATATACACACTGC... | benign | 102,620 |
Is the variant located on chromosome 5 at position 149986273, gene SLC26A2 (solute carrier family 26 member 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | ACATTTAAGATGTCACTAGAATTTACATTTCATCCTCTCTACTTGGGTTGAGGTTGCCTATACTTGCATATTGTTAAAATGTTTTGGTTGCTGATATTCAGAGGAATGAAACCTGGAACCAAAGCCTAATTTGCCGATAAAAAAACTGTTTTCGGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCATCCTGGCTAACACTGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCGGGGCATGGTGGCACGCGCCTGTAGTCC... | ACATTTAAGATGTCACTAGAATTTACATTTCATCCTCTCTACTTGGGTTGAGGTTGCCTATACTTGCATATTGTTAAAATGTTTTGGTTGCTGATATTCAGAGGAATGAAACCTGGAACCAAAGCCTAATTTGCCGATAAAAAAACTGTTTTCGGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCATCCTGGCTAACACTGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCGGGGCATGGTGGCACGCGCCTGTAGTCC... | benign | 102,629 |
Is the variant located on chromosome 5 at position 150372182, gene TCOF1 (treacle ribosome biogenesis factor 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CTACTAAGTGGCAGACCTGGGGAATATAGTGATGAGCAGGACAGGCAGAGTTCCTGCTGCCATGGGGCAAGGGAGCGTCCCTCAGATATTTAATTGGTGATGGCTGCTATGAAGTGGAAATGTAGAGGGCCACGCAGGGCAGGAACCTGACGTTGATGAGTAGGCGTAAGCAGAAGGAATGGCATGTGCAGAGAAGGCGGCAAAGAGAGTTTGGTGCTTTTAAAGAACATTGATCTTTTTTTAAGACAGTCTCACTGTGTCACCCAAGCTGGAGTGCAGTAGCGCGATCTTGGCTAGCTGCAACTTCCACCTCCCGGGTT... | CTACTAAGTGGCAGACCTGGGGAATATAGTGATGAGCAGGACAGGCAGAGTTCCTGCTGCCATGGGGCAAGGGAGCGTCCCTCAGATATTTAATTGGTGATGGCTGCTATGAAGTGGAAATGTAGAGGGCCACGCAGGGCAGGAACCTGACGTTGATGAGTAGGCGTAAGCAGAAGGAATGGCATGTGCAGAGAAGGCGGCAAAGAGAGTTTGGTGCTTTTAAAGAACATTGATCTTTTTTTAAGACAGTCTCACTGTGTCACCCAAGCTGGAGTGCAGTAGCGCGATCTTGGCTAGCTGCAACTTCCACCTCCCGGGTT... | benign | 102,815 |
Clinical classification of chromosome 5, position 150374319, gene TCOF1 (treacle ribosome biogenesis factor 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Treacher_Collins_syndrome_1'] | CTGCGGGTCCCCCAGCAGCCTGAGCACTCTGCCATGAGCACCTCTGCCACTGGAGTTGGGGAGAGGGAGGACTATGGTGTGAAGTTGAAGAGCAAGAACAGCCTGCTTCCCACAGGGGAGTCTTGCACTCCACTTTGTCTGTGACCAACTTTACCTCAGTTTCTCTGCCTAGTAAATGGGCCGCTGTCCTCGTCCCAGCCAGTCCTGCTGTGAGGGACTTGAGAAGTTTTGATTGCCTAATCCTCTGACTTCTCAGGACAAACCAGACCCTGAGCAGGCAAACACTACGTTAGCTAAAGGGAATCCAGTTCCCTTCCCCA... | CTGCGGGTCCCCCAGCAGCCTGAGCACTCTGCCATGAGCACCTCTGCCACTGGAGTTGGGGAGAGGGAGGACTATGGTGTGAAGTTGAAGAGCAAGAACAGCCTGCTTCCCACAGGGGAGTCTTGCACTCCACTTTGTCTGTGACCAACTTTACCTCAGTTTCTCTGCCTAGTAAATGGGCCGCTGTCCTCGTCCCAGCCAGTCCTGCTGTGAGGGACTTGAGAAGTTTTGATTGCCTAATCCTCTGACTTCTCAGGACAAACCAGACCCTGAGCAGGCAAACACTACGTTAGCTAAAGGGAATCCAGTTCCCTTCCCCA... | pathogenic | 102,819 |
The genetic variant at chromosome 5, position 150374319, affecting gene TCOF1 (treacle ribosome biogenesis factor 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Treacher_Collins_syndrome', 'Treacher_Collins_syndrome_1'] | CTGCGGGTCCCCCAGCAGCCTGAGCACTCTGCCATGAGCACCTCTGCCACTGGAGTTGGGGAGAGGGAGGACTATGGTGTGAAGTTGAAGAGCAAGAACAGCCTGCTTCCCACAGGGGAGTCTTGCACTCCACTTTGTCTGTGACCAACTTTACCTCAGTTTCTCTGCCTAGTAAATGGGCCGCTGTCCTCGTCCCAGCCAGTCCTGCTGTGAGGGACTTGAGAAGTTTTGATTGCCTAATCCTCTGACTTCTCAGGACAAACCAGACCCTGAGCAGGCAAACACTACGTTAGCTAAAGGGAATCCAGTTCCCTTCCCCA... | CTGCGGGTCCCCCAGCAGCCTGAGCACTCTGCCATGAGCACCTCTGCCACTGGAGTTGGGGAGAGGGAGGACTATGGTGTGAAGTTGAAGAGCAAGAACAGCCTGCTTCCCACAGGGGAGTCTTGCACTCCACTTTGTCTGTGACCAACTTTACCTCAGTTTCTCTGCCTAGTAAATGGGCCGCTGTCCTCGTCCCAGCCAGTCCTGCTGTGAGGGACTTGAGAAGTTTTGATTGCCTAATCCTCTGACTTCTCAGGACAAACCAGACCCTGAGCAGGCAAACACTACGTTAGCTAAAGGGAATCCAGTTCCCTTCCCCA... | pathogenic | 102,821 |
Clinical significance of chromosome 5, position 150375119, gene TCOF1 (treacle ribosome biogenesis factor 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Treacher_Collins_syndrome_1'] | AAGGAACACAAATGTGAATTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTAGCGGCAATCATAGCTCACTGCAGCCTCACTCCTGAGTAGCTAGGAATACAGGCACACACCACCACACCCAGCTTGTGTGTGTGTGTGTGTGTGTGTATAGACAGGGTTTCACTGTGTTTCACAAGCTGTGGACTCAAGCAGTCCTCCCACCTTGGCCTCCCAAAGTGCCGTGATTACAGATATGAGCCACCGCACCTGGCCATAAATGTGAACTTTTATGTAAAATCTGCTTTCTCCATGTTGGCTCAAAA... | AAGGAACACAAATGTGAATTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTAGCGGCAATCATAGCTCACTGCAGCCTCACTCCTGAGTAGCTAGGAATACAGGCACACACCACCACACCCAGCTTGTGTGTGTGTGTGTGTGTGTGTATAGACAGGGTTTCACTGTGTTTCACAAGCTGTGGACTCAAGCAGTCCTCCCACCTTGGCCTCCCAAAGTGCCGTGATTACAGATATGAGCCACCGCACCTGGCCATAAATGTGAACTTTTATGTAAAATCTGCTTTCTCCATGTTGGCTCAAAA... | pathogenic | 102,837 |
The genetic variant at chromosome 5, position 150375484, affecting gene TCOF1 (treacle ribosome biogenesis factor 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['TCOF1-related_disorder', 'Treacher_Collins_syndrome_1'] | CACTTTCTGCATGAGAAGCTTCTTAGAAGATCAGAGCTGCTGTTTTCTAGGGTTGTTGGCCCAGGGCTGAACACCCAGGGCCTTCCAGGGAAGACAGGGCCTGCAGCCACCCTGCCAAAGCCCCAAGACAGTGCAGAGCCCCACCGAGGAGTTAGTGAAGAGGGGGCCAGGTGTGCAAACCTTGCCCCATGAGGCTGAGGGTGGGCTTCCAGGGGTCCTGCTGCTGTCCATGTGCAGAAAGTCCAGTGAGGGCCTCCCTCAGTCCCTTCCCCACTTTCAGACTGCCTCTTCATTCCTTCCCTTCCCTGGGCCTTTGCACA... | CACTTTCTGCATGAGAAGCTTCTTAGAAGATCAGAGCTGCTGTTTTCTAGGGTTGTTGGCCCAGGGCTGAACACCCAGGGCCTTCCAGGGAAGACAGGGCCTGCAGCCACCCTGCCAAAGCCCCAAGACAGTGCAGAGCCCCACCGAGGAGTTAGTGAAGAGGGGGCCAGGTGTGCAAACCTTGCCCCATGAGGCTGAGGGTGGGCTTCCAGGGGTCCTGCTGCTGTCCATGTGCAGAAAGTCCAGTGAGGGCCTCCCTCAGTCCCTTCCCCACTTTCAGACTGCCTCTTCATTCCTTCCCTTCCCTGGGCCTTTGCACA... | pathogenic | 102,843 |
Mutation found at chromosome 5 position 150376288, gene TCOF1 (treacle ribosome biogenesis factor 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Treacher_Collins_syndrome_1'] | AAAGGGGCTACCCCAGCACCCCCTGGGAAGGCAGGGGCTGTAGCCTCCCAGACCAAGGCAGGGAAGCCAGAGGAGGACTCAGAGAGCAGCAGCGAGGAGTCATCTGACAGTGAGGAGGAGACGCCAGCTGCCAAGGCCCTGCTTCAGGTGAGGCCTGAGGAGGGAGACTCCATGCAGCCAGGCCCGTCCCCAGAAGGCCTTCTCAGGACTTGTTCTCCCACTCTGGGCCAGAGCCCCGGGCGTGCCTCAGACCCCAGCCCCTTACTCCCCTCTCACTGTGTGGCATCATTTGCCCTATCTGGTCTTCTGTACGTGGTGTC... | AAAGGGGCTACCCCAGCACCCCCTGGGAAGGCAGGGGCTGTAGCCTCCCAGACCAAGGCAGGGAAGCCAGAGGAGGACTCAGAGAGCAGCAGCGAGGAGTCATCTGACAGTGAGGAGGAGACGCCAGCTGCCAAGGCCCTGCTTCAGGTGAGGCCTGAGGAGGGAGACTCCATGCAGCCAGGCCCGTCCCCAGAAGGCCTTCTCAGGACTTGTTCTCCCACTCTGGGCCAGAGCCCCGGGCGTGCCTCAGACCCCAGCCCCTTACTCCCCTCTCACTGTGTGGCATCATTTGCCCTATCTGGTCTTCTGTACGTGGTGTC... | pathogenic | 102,861 |
A genetic alteration at chromosome 5, position 150376294, in gene TCOF1 (treacle ribosome biogenesis factor 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['TCOF1-related_disorder', 'Treacher_Collins_syndrome_1'] | GCTACCCCAGCACCCCCTGGGAAGGCAGGGGCTGTAGCCTCCCAGACCAAGGCAGGGAAGCCAGAGGAGGACTCAGAGAGCAGCAGCGAGGAGTCATCTGACAGTGAGGAGGAGACGCCAGCTGCCAAGGCCCTGCTTCAGGTGAGGCCTGAGGAGGGAGACTCCATGCAGCCAGGCCCGTCCCCAGAAGGCCTTCTCAGGACTTGTTCTCCCACTCTGGGCCAGAGCCCCGGGCGTGCCTCAGACCCCAGCCCCTTACTCCCCTCTCACTGTGTGGCATCATTTGCCCTATCTGGTCTTCTGTACGTGGTGTCCTGTGT... | GCTACCCCAGCACCCCCTGGGAAGGCAGGGGCTGTAGCCTCCCAGACCAAGGCAGGGAAGCCAGAGGAGGACTCAGAGAGCAGCAGCGAGGAGTCATCTGACAGTGAGGAGGAGACGCCAGCTGCCAAGGCCCTGCTTCAGGTGAGGCCTGAGGAGGGAGACTCCATGCAGCCAGGCCCGTCCCCAGAAGGCCTTCTCAGGACTTGTTCTCCCACTCTGGGCCAGAGCCCCGGGCGTGCCTCAGACCCCAGCCCCTTACTCCCCTCTCACTGTGTGGCATCATTTGCCCTATCTGGTCTTCTGTACGTGGTGTCCTGTGT... | pathogenic | 102,862 |
Considering the genetic mutation at chromosome 5, position 150376562, impacting TCOF1 (treacle ribosome biogenesis factor 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Treacher_Collins_syndrome_1'] | ACTGTGTGGCATCATTTGCCCTATCTGGTCTTCTGTACGTGGTGTCCTGTGTCTCCTCACACGTCCATCCTCTGGGCTGTCTCCCCTTGTCTTGTTTCTCCAGGCGAAGGCCTCAGGAAAAACCTCTCAGGTCGGAGCTGCCTCAGCCCCTGCCAAGGAGTCCCCCAGGAAAGGAGCTGCCCCAGCGCCCCCTGGGAAGACAGGGCCTGCAGTTGCCAAGGCCCAGGCGGGGAAGCGGGAGGAGGACTCGCAGAGCAGCAGCGAGGAATCGGACAGTGAGGAGGAGGCGCCTGCTCAGGTGAGGCAGAGGGGAGGGGTGG... | ACTGTGTGGCATCATTTGCCCTATCTGGTCTTCTGTACGTGGTGTCCTGTGTCTCCTCACACGTCCATCCTCTGGGCTGTCTCCCCTTGTCTTGTTTCTCCAGGCGAAGGCCTCAGGAAAAACCTCTCAGGTCGGAGCTGCCTCAGCCCCTGCCAAGGAGTCCCCCAGGAAAGGAGCTGCCCCAGCGCCCCCTGGGAAGACAGGGCCTGCAGTTGCCAAGGCCCAGGCGGGGAAGCGGGAGGAGGACTCGCAGAGCAGCAGCGAGGAATCGGACAGTGAGGAGGAGGCGCCTGCTCAGGTGAGGCAGAGGGGAGGGGTGG... | pathogenic | 102,866 |
Evaluate this variant at chromosome 5, position 150379668, gene TCOF1 (treacle ribosome biogenesis factor 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Treacher_Collins_syndrome_1'] | GACTTGTGGGACCTCAGGGCTCTAGAATTCCTCCATTGAGGTTTTTAAGCTCTGCAGGGGCCCCTTCCAGAGCCGCCTCTACTCTTTCCCAAGCTGCAGGCACATTCCAGACCCAATGCCTTACAGAGTTTCATTATGCAGCTCACTTAAATATTTGTCTTCCCTTCTGAGCCTCCCACCTGTACCATGAGGTGGGTGTTTTATTTTTATTTTTTGAACCATGGGCTATTTTGAAGTAAGCCGTTTAATTTCCAAATATCTGGGATTACCCAGGTTTCTTTTTGTTGATTTCTAATTTAGTCACATTGTGGTTGGAGAAC... | GACTTGTGGGACCTCAGGGCTCTAGAATTCCTCCATTGAGGTTTTTAAGCTCTGCAGGGGCCCCTTCCAGAGCCGCCTCTACTCTTTCCCAAGCTGCAGGCACATTCCAGACCCAATGCCTTACAGAGTTTCATTATGCAGCTCACTTAAATATTTGTCTTCCCTTCTGAGCCTCCCACCTGTACCATGAGGTGGGTGTTTTATTTTTATTTTTTGAACCATGGGCTATTTTGAAGTAAGCCGTTTAATTTCCAAATATCTGGGATTACCCAGGTTTCTTTTTGTTGATTTCTAATTTAGTCACATTGTGGTTGGAGAAC... | pathogenic | 102,872 |
Regarding the variant at chromosome 5 and position 150379688, affecting gene TCOF1 (treacle ribosome biogenesis factor 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Treacher_Collins_syndrome_1'] | TCTAGAATTCCTCCATTGAGGTTTTTAAGCTCTGCAGGGGCCCCTTCCAGAGCCGCCTCTACTCTTTCCCAAGCTGCAGGCACATTCCAGACCCAATGCCTTACAGAGTTTCATTATGCAGCTCACTTAAATATTTGTCTTCCCTTCTGAGCCTCCCACCTGTACCATGAGGTGGGTGTTTTATTTTTATTTTTTGAACCATGGGCTATTTTGAAGTAAGCCGTTTAATTTCCAAATATCTGGGATTACCCAGGTTTCTTTTTGTTGATTTCTAATTTAGTCACATTGTGGTTGGAGAACATATTTTGTATGATTTAAAT... | TCTAGAATTCCTCCATTGAGGTTTTTAAGCTCTGCAGGGGCCCCTTCCAGAGCCGCCTCTACTCTTTCCCAAGCTGCAGGCACATTCCAGACCCAATGCCTTACAGAGTTTCATTATGCAGCTCACTTAAATATTTGTCTTCCCTTCTGAGCCTCCCACCTGTACCATGAGGTGGGTGTTTTATTTTTATTTTTTGAACCATGGGCTATTTTGAAGTAAGCCGTTTAATTTCCAAATATCTGGGATTACCCAGGTTTCTTTTTGTTGATTTCTAATTTAGTCACATTGTGGTTGGAGAACATATTTTGTATGATTTAAAT... | pathogenic | 102,873 |
Is the genetic change at chromosome 5, position 150392046, within gene TCOF1 (treacle ribosome biogenesis factor 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Treacher_Collins_syndrome_1'] | AGAAACAGGAGGGACCAGCCACTCAGGTACCTGGTGGGCAAGGGAGGGTAATGCAGGCCAGTGGGGTGGGGCCCTACTTCCATACTTACCCACATGTGCTGATGGGATGGCCTGCAATTGCTGTCACGCCCACACTCCAGAGGTCGTGGCCTCACAGCCAGAGGCTTTCTGGCCTCCTAGCTACAACCCCCCAAATCACCTTTGAGTTATGAGGAAGAGTAATCTGGGGACACAGCCTCCTGGCCAAGCAAGCCCTGCAGCACTCGAGTCCCTCATGAGATTTTCCAGCGTAGTGGGGCTTTTGATTTTTTTTCTTCCAG... | AGAAACAGGAGGGACCAGCCACTCAGGTACCTGGTGGGCAAGGGAGGGTAATGCAGGCCAGTGGGGTGGGGCCCTACTTCCATACTTACCCACATGTGCTGATGGGATGGCCTGCAATTGCTGTCACGCCCACACTCCAGAGGTCGTGGCCTCACAGCCAGAGGCTTTCTGGCCTCCTAGCTACAACCCCCCAAATCACCTTTGAGTTATGAGGAAGAGTAATCTGGGGACACAGCCTCCTGGCCAAGCAAGCCCTGCAGCACTCGAGTCCCTCATGAGATTTTCCAGCGTAGTGGGGCTTTTGATTTTTTTTCTTCCAG... | pathogenic | 102,880 |
Determine whether the variant at chromosome 5, position 150396468, in gene TCOF1 (treacle ribosome biogenesis factor 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic | CAGTCTGTGTCAAGGCATGGCACATGTAGAAAATAGTCACATTGTATTTGGAGGGCAGACTGGATTATTCAATTCACCTAACCTGGGGCATCCACACTCCCTGACCCTACTGGAGCTAAGGGTCAAATATGTACCAGCTGGGCACACTTGGGACAGCTCCAGGGCTTCCCCAGCCTTGGTGTTCTGGGTGTTTGCAGATAAGCAGCAGAAAAGTGGGCCTGGCGCAGTGGCTCGTGCCTATAATCCCAGCACTTTGGGAGGCCAGGGCGAGTGGCTCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGA... | CAGTCTGTGTCAAGGCATGGCACATGTAGAAAATAGTCACATTGTATTTGGAGGGCAGACTGGATTATTCAATTCACCTAACCTGGGGCATCCACACTCCCTGACCCTACTGGAGCTAAGGGTCAAATATGTACCAGCTGGGCACACTTGGGACAGCTCCAGGGCTTCCCCAGCCTTGGTGTTCTGGGTGTTTGCAGATAAGCAGCAGAAAAGTGGGCCTGGCGCAGTGGCTCGTGCCTATAATCCCAGCACTTTGGGAGGCCAGGGCGAGTGGCTCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGA... | pathogenic | 102,898 |
Clinical classification of chromosome 5, position 150396627, gene TCOF1 (treacle ribosome biogenesis factor 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Treacher_Collins_syndrome_1'] | CAGGGCTTCCCCAGCCTTGGTGTTCTGGGTGTTTGCAGATAAGCAGCAGAAAAGTGGGCCTGGCGCAGTGGCTCGTGCCTATAATCCCAGCACTTTGGGAGGCCAGGGCGAGTGGCTCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAAACTAGCCAGCATGATGGCAGGCGCCTGTACTCCCAGCAACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCGAGATTGCACCACCGCACTCCAGCCTGGGCAAC... | CAGGGCTTCCCCAGCCTTGGTGTTCTGGGTGTTTGCAGATAAGCAGCAGAAAAGTGGGCCTGGCGCAGTGGCTCGTGCCTATAATCCCAGCACTTTGGGAGGCCAGGGCGAGTGGCTCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAAACTAGCCAGCATGATGGCAGGCGCCTGTACTCCCAGCAACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCGAGATTGCACCACCGCACTCCAGCCTGGGCAAC... | pathogenic | 102,903 |
Considering the variant on chromosome 5, location 150396714, involving gene TCOF1 (treacle ribosome biogenesis factor 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Treacher_Collins_syndrome_1'] | CAGCACTTTGGGAGGCCAGGGCGAGTGGCTCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAAACTAGCCAGCATGATGGCAGGCGCCTGTACTCCCAGCAACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCGAGATTGCACCACCGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGCAGCAGCAGAAACGTAGGCTCTGGGGAGAGAGGTTTCCGGGGC... | CAGCACTTTGGGAGGCCAGGGCGAGTGGCTCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAAACTAGCCAGCATGATGGCAGGCGCCTGTACTCCCAGCAACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCGAGATTGCACCACCGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGCAGCAGCAGAAACGTAGGCTCTGGGGAGAGAGGTTTCCGGGGC... | pathogenic | 102,906 |
Determine if the mutation at chromosome 5, position 150396821 in gene TCOF1 (treacle ribosome biogenesis factor 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CCAGCATGATGGCAGGCGCCTGTACTCCCAGCAACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCGAGATTGCACCACCGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGCAGCAGCAGAAACGTAGGCTCTGGGGAGAGAGGTTTCCGGGGCTAACTGCCCTCCCCAGCTTCCCTCTCCATTGGCTCCTGCCATCTTGAAGAATCCCCAGAGGATGGAATTGGGCCTCCAGCCGTCCCGGGGGCCCCTCTGCCTAACCT... | CCAGCATGATGGCAGGCGCCTGTACTCCCAGCAACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCGAGATTGCACCACCGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGCAGCAGCAGAAACGTAGGCTCTGGGGAGAGAGGTTTCCGGGGCTAACTGCCCTCCCCAGCTTCCCTCTCCATTGGCTCCTGCCATCTTGAAGAATCCCCAGAGGATGGAATTGGGCCTCCAGCCGTCCCGGGGGCCCCTCTGCCTAACCT... | benign | 102,910 |
Regarding the variant at chromosome 5 and position 150396838, affecting gene TCOF1 (treacle ribosome biogenesis factor 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Treacher_Collins_syndrome_1'] | GCCTGTACTCCCAGCAACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCGAGATTGCACCACCGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGCAGCAGCAGAAACGTAGGCTCTGGGGAGAGAGGTTTCCGGGGCTAACTGCCCTCCCCAGCTTCCCTCTCCATTGGCTCCTGCCATCTTGAAGAATCCCCAGAGGATGGAATTGGGCCTCCAGCCGTCCCGGGGGCCCCTCTGCCTAACCTGGCCTGCCCTGCCCAGT... | GCCTGTACTCCCAGCAACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCGAGATTGCACCACCGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGCAGCAGCAGAAACGTAGGCTCTGGGGAGAGAGGTTTCCGGGGCTAACTGCCCTCCCCAGCTTCCCTCTCCATTGGCTCCTGCCATCTTGAAGAATCCCCAGAGGATGGAATTGGGCCTCCAGCCGTCCCGGGGGCCCCTCTGCCTAACCTGGCCTGCCCTGCCCAGT... | pathogenic | 102,911 |
Mutation found at chromosome 5 position 150398364, gene TCOF1 (treacle ribosome biogenesis factor 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Treacher_Collins_syndrome_1'] | GAAGTCCCGGAAGCCCAAGAAAGGGGCTGGGAACCCCCAAGCCTCAACCCTGGCGCTGCAAAGCAACATCACCCAGTGCCTCCTGGGCCAACCCTGGCCCCTGAATGAGGCCCAGGTGCAGGCCTCAGTGGTGAAGGTCCTGACTGAGCTGCTGGAACAGGAAAGAAAGAAGGTGGTGGACACCACCAAGGAGAGCAGCAGGAAGGGCTGGGAGAGCCGCAAGCGGAAGCTATCGGGAGACCAGCCAGCTGCCAGGACCCCCAGGAGCAAGAAGAAGAAGAAGCTGGGGGCCGGGGAAGGTGGGGAGGCCTCTGTTTCCC... | GAAGTCCCGGAAGCCCAAGAAAGGGGCTGGGAACCCCCAAGCCTCAACCCTGGCGCTGCAAAGCAACATCACCCAGTGCCTCCTGGGCCAACCCTGGCCCCTGAATGAGGCCCAGGTGCAGGCCTCAGTGGTGAAGGTCCTGACTGAGCTGCTGGAACAGGAAAGAAAGAAGGTGGTGGACACCACCAAGGAGAGCAGCAGGAAGGGCTGGGAGAGCCGCAAGCGGAAGCTATCGGGAGACCAGCCAGCTGCCAGGACCCCCAGGAGCAAGAAGAAGAAGAAGCTGGGGGCCGGGGAAGGTGGGGAGGCCTCTGTTTCCC... | pathogenic | 102,914 |
Determine if the mutation at chromosome 5, position 150398364 in gene TCOF1 (treacle ribosome biogenesis factor 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Treacher_Collins_syndrome_1'] | GAAGTCCCGGAAGCCCAAGAAAGGGGCTGGGAACCCCCAAGCCTCAACCCTGGCGCTGCAAAGCAACATCACCCAGTGCCTCCTGGGCCAACCCTGGCCCCTGAATGAGGCCCAGGTGCAGGCCTCAGTGGTGAAGGTCCTGACTGAGCTGCTGGAACAGGAAAGAAAGAAGGTGGTGGACACCACCAAGGAGAGCAGCAGGAAGGGCTGGGAGAGCCGCAAGCGGAAGCTATCGGGAGACCAGCCAGCTGCCAGGACCCCCAGGAGCAAGAAGAAGAAGAAGCTGGGGGCCGGGGAAGGTGGGGAGGCCTCTGTTTCCC... | GAAGTCCCGGAAGCCCAAGAAAGGGGCTGGGAACCCCCAAGCCTCAACCCTGGCGCTGCAAAGCAACATCACCCAGTGCCTCCTGGGCCAACCCTGGCCCCTGAATGAGGCCCAGGTGCAGGCCTCAGTGGTGAAGGTCCTGACTGAGCTGCTGGAACAGGAAAGAAAGAAGGTGGTGGACACCACCAAGGAGAGCAGCAGGAAGGGCTGGGAGAGCCGCAAGCGGAAGCTATCGGGAGACCAGCCAGCTGCCAGGACCCCCAGGAGCAAGAAGAAGAAGAAGCTGGGGGCCGGGGAAGGTGGGGAGGCCTCTGTTTCCC... | pathogenic | 102,915 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 150398368, gene TCOF1 (treacle ribosome biogenesis factor 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Treacher_Collins_syndrome_1'] | TCCCGGAAGCCCAAGAAAGGGGCTGGGAACCCCCAAGCCTCAACCCTGGCGCTGCAAAGCAACATCACCCAGTGCCTCCTGGGCCAACCCTGGCCCCTGAATGAGGCCCAGGTGCAGGCCTCAGTGGTGAAGGTCCTGACTGAGCTGCTGGAACAGGAAAGAAAGAAGGTGGTGGACACCACCAAGGAGAGCAGCAGGAAGGGCTGGGAGAGCCGCAAGCGGAAGCTATCGGGAGACCAGCCAGCTGCCAGGACCCCCAGGAGCAAGAAGAAGAAGAAGCTGGGGGCCGGGGAAGGTGGGGAGGCCTCTGTTTCCCCAGA... | TCCCGGAAGCCCAAGAAAGGGGCTGGGAACCCCCAAGCCTCAACCCTGGCGCTGCAAAGCAACATCACCCAGTGCCTCCTGGGCCAACCCTGGCCCCTGAATGAGGCCCAGGTGCAGGCCTCAGTGGTGAAGGTCCTGACTGAGCTGCTGGAACAGGAAAGAAAGAAGGTGGTGGACACCACCAAGGAGAGCAGCAGGAAGGGCTGGGAGAGCCGCAAGCGGAAGCTATCGGGAGACCAGCCAGCTGCCAGGACCCCCAGGAGCAAGAAGAAGAAGAAGCTGGGGGCCGGGGAAGGTGGGGAGGCCTCTGTTTCCCCAGA... | pathogenic | 102,916 |
Is the chromosome 5, position 150398372 variant in TCOF1 (treacle ribosome biogenesis factor 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'Treacher_Collins_syndrome', 'Treacher_Collins_syndrome_1'] | GGAAGCCCAAGAAAGGGGCTGGGAACCCCCAAGCCTCAACCCTGGCGCTGCAAAGCAACATCACCCAGTGCCTCCTGGGCCAACCCTGGCCCCTGAATGAGGCCCAGGTGCAGGCCTCAGTGGTGAAGGTCCTGACTGAGCTGCTGGAACAGGAAAGAAAGAAGGTGGTGGACACCACCAAGGAGAGCAGCAGGAAGGGCTGGGAGAGCCGCAAGCGGAAGCTATCGGGAGACCAGCCAGCTGCCAGGACCCCCAGGAGCAAGAAGAAGAAGAAGCTGGGGGCCGGGGAAGGTGGGGAGGCCTCTGTTTCCCCAGAAAAG... | GGAAGCCCAAGAAAGGGGCTGGGAACCCCCAAGCCTCAACCCTGGCGCTGCAAAGCAACATCACCCAGTGCCTCCTGGGCCAACCCTGGCCCCTGAATGAGGCCCAGGTGCAGGCCTCAGTGGTGAAGGTCCTGACTGAGCTGCTGGAACAGGAAAGAAAGAAGGTGGTGGACACCACCAAGGAGAGCAGCAGGAAGGGCTGGGAGAGCCGCAAGCGGAAGCTATCGGGAGACCAGCCAGCTGCCAGGACCCCCAGGAGCAAGAAGAAGAAGAAGCTGGGGGCCGGGGAAGGTGGGGAGGCCTCTGTTTCCCCAGAAAAG... | pathogenic | 102,917 |
Evaluate if the mutation on chromosome 5 at position 150398373 in TCOF1 (treacle ribosome biogenesis factor 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Treacher_Collins_syndrome_1'] | GAAGCCCAAGAAAGGGGCTGGGAACCCCCAAGCCTCAACCCTGGCGCTGCAAAGCAACATCACCCAGTGCCTCCTGGGCCAACCCTGGCCCCTGAATGAGGCCCAGGTGCAGGCCTCAGTGGTGAAGGTCCTGACTGAGCTGCTGGAACAGGAAAGAAAGAAGGTGGTGGACACCACCAAGGAGAGCAGCAGGAAGGGCTGGGAGAGCCGCAAGCGGAAGCTATCGGGAGACCAGCCAGCTGCCAGGACCCCCAGGAGCAAGAAGAAGAAGAAGCTGGGGGCCGGGGAAGGTGGGGAGGCCTCTGTTTCCCCAGAAAAGA... | GAAGCCCAAGAAAGGGGCTGGGAACCCCCAAGCCTCAACCCTGGCGCTGCAAAGCAACATCACCCAGTGCCTCCTGGGCCAACCCTGGCCCCTGAATGAGGCCCAGGTGCAGGCCTCAGTGGTGAAGGTCCTGACTGAGCTGCTGGAACAGGAAAGAAAGAAGGTGGTGGACACCACCAAGGAGAGCAGCAGGAAGGGCTGGGAGAGCCGCAAGCGGAAGCTATCGGGAGACCAGCCAGCTGCCAGGACCCCCAGGAGCAAGAAGAAGAAGAAGCTGGGGGCCGGGGAAGGTGGGGAGGCCTCTGTTTCCCCAGAAAAGA... | pathogenic | 102,918 |
Assess the variant on chromosome 5, position 150398379, impacting TCOF1 (treacle ribosome biogenesis factor 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CAAGAAAGGGGCTGGGAACCCCCAAGCCTCAACCCTGGCGCTGCAAAGCAACATCACCCAGTGCCTCCTGGGCCAACCCTGGCCCCTGAATGAGGCCCAGGTGCAGGCCTCAGTGGTGAAGGTCCTGACTGAGCTGCTGGAACAGGAAAGAAAGAAGGTGGTGGACACCACCAAGGAGAGCAGCAGGAAGGGCTGGGAGAGCCGCAAGCGGAAGCTATCGGGAGACCAGCCAGCTGCCAGGACCCCCAGGAGCAAGAAGAAGAAGAAGCTGGGGGCCGGGGAAGGTGGGGAGGCCTCTGTTTCCCCAGAAAAGACCTCCA... | CAAGAAAGGGGCTGGGAACCCCCAAGCCTCAACCCTGGCGCTGCAAAGCAACATCACCCAGTGCCTCCTGGGCCAACCCTGGCCCCTGAATGAGGCCCAGGTGCAGGCCTCAGTGGTGAAGGTCCTGACTGAGCTGCTGGAACAGGAAAGAAAGAAGGTGGTGGACACCACCAAGGAGAGCAGCAGGAAGGGCTGGGAGAGCCGCAAGCGGAAGCTATCGGGAGACCAGCCAGCTGCCAGGACCCCCAGGAGCAAGAAGAAGAAGAAGCTGGGGGCCGGGGAAGGTGGGGAGGCCTCTGTTTCCCCAGAAAAGACCTCCA... | benign | 102,919 |
The chromosome 5, position 150656742 genetic variant in gene SYNPO: benign or pathogenic? If pathogenic, indicate disease(s). | benign | TGGCCCGACTTCCTTTTGTATCTCCATCTGTCAGGGGCATCTTCCTCCCTGTTCAGGCATCCAAGGAAAGATGATGAGGTGACCATGGCAACATGGCAAATGGTTTGGGGCTGAGAGGGTCTTTCCCTAAGTCCAACTTTAATAATAGTCGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTAGTGGCAGGCACCTGTAATCCCAGCT... | TGGCCCGACTTCCTTTTGTATCTCCATCTGTCAGGGGCATCTTCCTCCCTGTTCAGGCATCCAAGGAAAGATGATGAGGTGACCATGGCAACATGGCAAATGGTTTGGGGCTGAGAGGGTCTTTCCCTAAGTCCAACTTTAATAATAGTCGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTAGTGGCAGGCACCTGTAATCCCAGCT... | benign | 102,959 |
A mutation at chromosome position 151266819 on chromosome 5 in gene GM2A (ganglioside GM2 activator): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Tay-Sachs_disease', 'Tay-Sachs_disease,_variant_AB'] | GGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACATTAGCCAGGCGTGGTAGCTCATGCCTGTAATCTCAGCTACTCAGGAGGCTAAGACAGGAGAATCGCTTGAACGCAGGAAGCAGAGTTTGTAGTGAGCCAAAATCACACCACTATACTCCAGCCTAGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAGAAGGTGAGGGAATGGCCACTGAGAGAGATTAAGTAACTCACCCAAGGGCACAATAAAACTAGGAAGTGGCAGAACTAGCATTCCAACCTAGGCCC... | GGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACATTAGCCAGGCGTGGTAGCTCATGCCTGTAATCTCAGCTACTCAGGAGGCTAAGACAGGAGAATCGCTTGAACGCAGGAAGCAGAGTTTGTAGTGAGCCAAAATCACACCACTATACTCCAGCCTAGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAGAAGGTGAGGGAATGGCCACTGAGAGAGATTAAGTAACTCACCCAAGGGCACAATAAAACTAGGAAGTGGCAGAACTAGCATTCCAACCTAGGCCC... | pathogenic | 102,975 |
Mutation at chromosome 5, position 151266850, within GM2A (ganglioside GM2 activator): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Tay-Sachs_disease,_variant_AB'] | AAACCCCATCTCTACTAAAAATACAAAAACATTAGCCAGGCGTGGTAGCTCATGCCTGTAATCTCAGCTACTCAGGAGGCTAAGACAGGAGAATCGCTTGAACGCAGGAAGCAGAGTTTGTAGTGAGCCAAAATCACACCACTATACTCCAGCCTAGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAGAAGGTGAGGGAATGGCCACTGAGAGAGATTAAGTAACTCACCCAAGGGCACAATAAAACTAGGAAGTGGCAGAACTAGCATTCCAACCTAGGCCCTCTGACTTTTCCTAGGCAGCGGGGTAGAAGC... | AAACCCCATCTCTACTAAAAATACAAAAACATTAGCCAGGCGTGGTAGCTCATGCCTGTAATCTCAGCTACTCAGGAGGCTAAGACAGGAGAATCGCTTGAACGCAGGAAGCAGAGTTTGTAGTGAGCCAAAATCACACCACTATACTCCAGCCTAGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAGAAGGTGAGGGAATGGCCACTGAGAGAGATTAAGTAACTCACCCAAGGGCACAATAAAACTAGGAAGTGGCAGAACTAGCATTCCAACCTAGGCCCTCTGACTTTTCCTAGGCAGCGGGGTAGAAGC... | pathogenic | 102,976 |
Gene FAT2 variant at chromosome position 151506113 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CCCAAACAGGCTAAAGGACACAGAAAATAACAGTAAAAAAAGATACTTTATTGTTAAAAAAAAAATGACCAATGAAACTATGTATCTGTCACTCACACTCACAGTCACACACACAGCCACAAACCACTCACACAAATTGGCTCTCGCCCACACATCTCCCTCTCGCATGAAGCAGCAGCCCTGTGGGCAAGGCTCCACTGCTCTTCCTTTTGACTTCTGTCTCCAGAAACAACACATATGAAAAGGCAGTGGACCAGAGGGAGGGACTGGGTGGGAGGGAGTGGTGAGGTCACCAAAGGCCACAGAGGCTTCTGGTCCCC... | CCCAAACAGGCTAAAGGACACAGAAAATAACAGTAAAAAAAGATACTTTATTGTTAAAAAAAAAATGACCAATGAAACTATGTATCTGTCACTCACACTCACAGTCACACACACAGCCACAAACCACTCACACAAATTGGCTCTCGCCCACACATCTCCCTCTCGCATGAAGCAGCAGCCCTGTGGGCAAGGCTCCACTGCTCTTCCTTTTGACTTCTGTCTCCAGAAACAACACATATGAAAAGGCAGTGGACCAGAGGGAGGGACTGGGTGGGAGGGAGTGGTGAGGTCACCAAAGGCCACAGAGGCTTCTGGTCCCC... | benign | 103,006 |
Variant in FAT2, chromosome 5, position 151507623—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ACCTCCTCACAGCTGCCATAATCACTCTCCACCATGTCAGAGCCCTCATAGTTGGGGGGCACCCGGGGCTGGCCCTGGCCTGCAAGAGGTGCCCCCTCCACCTCACAGACAGCATAAGAGGGCCCAGCTCGGCTGAGGCGCATACCCACCCCCTTGTAGCCCCCGTCTGCCAGGCAGGGCCCTCCCCCTCCCTGCCGGAACTGCGAGTGGTAGTAGCTGATGGCCGTGTACTCATTGAGACAGGGGGCAACCAGGCGCTCCCGGGGACTAGGGGGCCGAGAGGGCATCAGATCTTCCAGGTTCTGGTTGCTGTAACGGGG... | ACCTCCTCACAGCTGCCATAATCACTCTCCACCATGTCAGAGCCCTCATAGTTGGGGGGCACCCGGGGCTGGCCCTGGCCTGCAAGAGGTGCCCCCTCCACCTCACAGACAGCATAAGAGGGCCCAGCTCGGCTGAGGCGCATACCCACCCCCTTGTAGCCCCCGTCTGCCAGGCAGGGCCCTCCCCCTCCCTGCCGGAACTGCGAGTGGTAGTAGCTGATGGCCGTGTACTCATTGAGACAGGGGGCAACCAGGCGCTCCCGGGGACTAGGGGGCCGAGAGGGCATCAGATCTTCCAGGTTCTGGTTGCTGTAACGGGG... | benign | 103,011 |
Determine whether the variant at chromosome 5, position 151510184, in gene FAT2 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | ATGGTGTGAAGCTCCAGGGAAACTTCTGTGGCCAGCTTTATCCACTTTTGAGGGCTATTGGGAAAGTTTGCCCCATCCCATTTGAGTCCAAAACATTTCTCAGTGCCCGAAATGTCACTACCAGTTGTTTGTTATTTTGGGTTAAATGTTGTTTTCCCCAAGGTCCTCTTTTAAAATGCAGACACCACTTTCAGCTGTGAAATGTCCTCCCAACACATCTCGTGAACGAATAGCATTCCCGACTGCAAAGCAGGGCAGGACACACCAGTTGCTGAGAAAAAGGACTGAAGTCGACTGGGCGCAGTGGCTCATGCCTGTAA... | ATGGTGTGAAGCTCCAGGGAAACTTCTGTGGCCAGCTTTATCCACTTTTGAGGGCTATTGGGAAAGTTTGCCCCATCCCATTTGAGTCCAAAACATTTCTCAGTGCCCGAAATGTCACTACCAGTTGTTTGTTATTTTGGGTTAAATGTTGTTTTCCCCAAGGTCCTCTTTTAAAATGCAGACACCACTTTCAGCTGTGAAATGTCCTCCCAACACATCTCGTGAACGAATAGCATTCCCGACTGCAAAGCAGGGCAGGACACACCAGTTGCTGAGAAAAAGGACTGAAGTCGACTGGGCGCAGTGGCTCATGCCTGTAA... | benign | 103,013 |
Variant at chromosome position 151663455, chromosome 5, gene SPARC: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CTCGCCCTCCCACTGTGTAGAAGAGAACACCAGAATACAGTTTGATTTTTTAGGAGCTTTTATTGTTTTAGTAATCTTAACATAACTTAAAATAAGAGAGGGGAAATGACATCTGGAGATCTAGGTATGTGGCCCATTGCAATTGAGCACATTTCTTGGGTCTGTTTCTCTATCTCTAAGGGGAGTCTCAAAACCCCAGCTCAAAATACGACACTAACATGATGAACATGCATGAGCTTTGAAAAGTGCTCTGTAGTCTTATGATGATCTAGAAGAGCACTGTCCAATAGAACTTTCTGTGATGATGAAAAGATTCTACT... | CTCGCCCTCCCACTGTGTAGAAGAGAACACCAGAATACAGTTTGATTTTTTAGGAGCTTTTATTGTTTTAGTAATCTTAACATAACTTAAAATAAGAGAGGGGAAATGACATCTGGAGATCTAGGTATGTGGCCCATTGCAATTGAGCACATTTCTTGGGTCTGTTTCTCTATCTCTAAGGGGAGTCTCAAAACCCCAGCTCAAAATACGACACTAACATGATGAACATGCATGAGCTTTGAAAAGTGCTCTGTAGTCTTATGATGATCTAGAAGAGCACTGTCCAATAGAACTTTCTGTGATGATGAAAAGATTCTACT... | benign | 103,103 |
Regarding the variant at chromosome 5 and position 151859962, affecting gene GLRA1 (glycine receptor alpha 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_hyperekplexia', 'Hyperekplexia_1'] | AGAGGGATAGGTTGAGAGTCATCTAAAGTCACACAGCAAGCTGATACATCAGCCAGGATTCAAAACCATGTGTCCTGGCCTTTGGATTCTGAGTCCCATGGTGGGGTTGACTCAGGTGTTTGCTGGCAGCACTGCTCTCCTGCAAAGCCAACCCCAATACCCTAAGATACCTAATTGGTGGTGTTCTAGTGGACCTGAACTGGCACTTTGGCTGCATGTGATGAGGTACACAGCCCTTTGTGAACTTCCTTCCTCCAGCTCACACCCACAGCTCTGGATGTGGGCCCCTTTAAGCACAAGGTTGAAGCAAAAGGGGAAAA... | AGAGGGATAGGTTGAGAGTCATCTAAAGTCACACAGCAAGCTGATACATCAGCCAGGATTCAAAACCATGTGTCCTGGCCTTTGGATTCTGAGTCCCATGGTGGGGTTGACTCAGGTGTTTGCTGGCAGCACTGCTCTCCTGCAAAGCCAACCCCAATACCCTAAGATACCTAATTGGTGGTGTTCTAGTGGACCTGAACTGGCACTTTGGCTGCATGTGATGAGGTACACAGCCCTTTGTGAACTTCCTTCCTCCAGCTCACACCCACAGCTCTGGATGTGGGCCCCTTTAAGCACAAGGTTGAAGCAAAAGGGGAAAA... | pathogenic | 103,146 |
Evaluate the clinical significance of the mutation at chromosome 5, position 151886786 in gene GLRA1 (glycine receptor alpha 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_hyperekplexia'] | ACCAGTTCCTTACAGAACCAGGTGGTCCACTCCCTGACTTGGCTTGATAACCATTTACCATTGAGGAAAAAGAGTGGAAGTGTCAACACTCACTGTACAGATTATGATTAATACAAATGTCAATATGCTTCTGATCTCAGAGGAGGGGAAGAAAAGCAGAGGGGCTCATTAAGAGTGCTTGTAAGACATCCATTCAAAGGTGAAAAAAACTTGGCTATTTATTTGACCTGGATATCCAGTGAAAAGCACCCATGTTTGTTCCTAGCTAACAAGTGGGACCATCTCCATTTGGAGATAAGAGGCCTGTTACTTTAGGGAGT... | ACCAGTTCCTTACAGAACCAGGTGGTCCACTCCCTGACTTGGCTTGATAACCATTTACCATTGAGGAAAAAGAGTGGAAGTGTCAACACTCACTGTACAGATTATGATTAATACAAATGTCAATATGCTTCTGATCTCAGAGGAGGGGAAGAAAAGCAGAGGGGCTCATTAAGAGTGCTTGTAAGACATCCATTCAAAGGTGAAAAAAACTTGGCTATTTATTTGACCTGGATATCCAGTGAAAAGCACCCATGTTTGTTCCTAGCTAACAAGTGGGACCATCTCCATTTGGAGATAAGAGGCCTGTTACTTTAGGGAGT... | pathogenic | 103,149 |
A genetic variant on chromosome 5, position 156326646, affects the gene SGCD (sarcoglycan delta). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GCCACATAACAAGTCTTTGGGGAGACATGAGGGCAGGGTCTCGTGAATCATATCAGCATTGTTTGATTAGGGCTGAGTATCAGCTTGAGTTTTTTTTAAATTGATTACCAGAACATTCAAGATTAACTTCTTCAACTATTTAAAACTTCTTTTTTTTTTTCCCTGAAAAGAAGCAGGGCATAAAACGTGAATAATAAACAATAAGCGGTTCATTAGCAATTTGCTACCACTGGCTCTCAAAGACTGTGGAACCCCACGTAGAAGTCTGATTCTTTAGAATTTGCAGCAGCTATTTTCTCTGAAAGATTTCTTCCTCAACT... | GCCACATAACAAGTCTTTGGGGAGACATGAGGGCAGGGTCTCGTGAATCATATCAGCATTGTTTGATTAGGGCTGAGTATCAGCTTGAGTTTTTTTTAAATTGATTACCAGAACATTCAAGATTAACTTCTTCAACTATTTAAAACTTCTTTTTTTTTTTCCCTGAAAAGAAGCAGGGCATAAAACGTGAATAATAAACAATAAGCGGTTCATTAGCAATTTGCTACCACTGGCTCTCAAAGACTGTGGAACCCCACGTAGAAGTCTGATTCTTTAGAATTTGCAGCAGCTATTTTCTCTGAAAGATTTCTTCCTCAACT... | benign | 103,175 |
A mutation at chromosome position 156327241 on chromosome 5 in gene SGCD (sarcoglycan delta): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TTCCAATAAGGCTTCAGGACAGTTCTCCAAGTTTAAGGTGACAGGCCCCTATTACATAAAGTTAAAGCAGCAGAAAACTAGCCACTCAAATACTTTATTCTAGAACTCACACTAGATGGGAGAGTACAATTTGGCTTTTAGGTTAGAGAAAAGGTTTGCATTTTGCTCCATTAAAAAAAAAAGTAAACTGAAATGTATTTATAGGCAGTCATAAACACTTTACACAGATTATCTCACTGAATCCTTAACAATTCTACCAGTAGATTCTATTATGGTTCCCATTTCACAGATGAGGAAACAGATCGAGAGAGGTTAAGCAA... | TTCCAATAAGGCTTCAGGACAGTTCTCCAAGTTTAAGGTGACAGGCCCCTATTACATAAAGTTAAAGCAGCAGAAAACTAGCCACTCAAATACTTTATTCTAGAACTCACACTAGATGGGAGAGTACAATTTGGCTTTTAGGTTAGAGAAAAGGTTTGCATTTTGCTCCATTAAAAAAAAAAGTAAACTGAAATGTATTTATAGGCAGTCATAAACACTTTACACAGATTATCTCACTGAATCCTTAACAATTCTACCAGTAGATTCTATTATGGTTCCCATTTCACAGATGAGGAAACAGATCGAGAGAGGTTAAGCAA... | benign | 103,180 |
Determine if the mutation at chromosome 5, position 156344549 in gene SGCD (sarcoglycan delta) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2F'] | GAATATGATCTGATGGAAAATAAAAACCTAATTTATTTCAGGCTTATAAAGCATTATTTTTACTTTTATTTGATCTTCATGTTTAAAAAGGCCAGTGATTGATGACTTTGTTGTGTTCCCGTCTTCTTATAACACATCCCTGATCTGCAGAGGAATTATCAGAAGCTGAGATTTAAAACTGAGATCCTCTTACACCACAAATCTCACTGCCTGGCTGGGAACCCAGTGCTTTGGGAGCCTGAAGTGAAAATTTGCAAGTATACAAACAAGAACTTGCCCATGGTATTTAGCTTAAACCTTTACATACCCCCAGACAGCAG... | GAATATGATCTGATGGAAAATAAAAACCTAATTTATTTCAGGCTTATAAAGCATTATTTTTACTTTTATTTGATCTTCATGTTTAAAAAGGCCAGTGATTGATGACTTTGTTGTGTTCCCGTCTTCTTATAACACATCCCTGATCTGCAGAGGAATTATCAGAAGCTGAGATTTAAAACTGAGATCCTCTTACACCACAAATCTCACTGCCTGGCTGGGAACCCAGTGCTTTGGGAGCCTGAAGTGAAAATTTGCAAGTATACAAACAAGAACTTGCCCATGGTATTTAGCTTAAACCTTTACATACCCCCAGACAGCAG... | pathogenic | 103,189 |
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