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 |
|---|---|---|---|---|---|
Benign or pathogenic: chromosome 11, position 117382886, gene CEP164 (centrosomal protein 164) variant? Disease(s) if pathogenic? | pathogenic; ['Nephronophthisis_15'] | GGCCTTGCAGGGTCTGTGTGTGCACATGCGTGTGTATATGTGTGTGCACGTGTGTGTACTGGCAATGTGTGTATATGTTTGCATGCATGAGCAGACCCTTTGTTTCTTCACCAAGATGGGAATGTGAAGTGCCACTGGGTACAATTGGCAGGACTCTGGGCACCATTGTGGGGCCAGGGCTGATGAAGCTGTGTGTGTGCCTGGTTATGGGCCAGGGCTGAAGAAACCTTGTGGAGGTCTGGAGGAGTCGCATTGGAGGGTTGGTACTGCAGCTCAAGAGTTCTGAGCCAGGGCCCTGCCACATCAGAAATGGCTGTAGC... | GGCCTTGCAGGGTCTGTGTGTGCACATGCGTGTGTATATGTGTGTGCACGTGTGTGTACTGGCAATGTGTGTATATGTTTGCATGCATGAGCAGACCCTTTGTTTCTTCACCAAGATGGGAATGTGAAGTGCCACTGGGTACAATTGGCAGGACTCTGGGCACCATTGTGGGGCCAGGGCTGATGAAGCTGTGTGTGTGCCTGGTTATGGGCCAGGGCTGAAGAAACCTTGTGGAGGTCTGGAGGAGTCGCATTGGAGGGTTGGTACTGCAGCTCAAGAGTTCTGAGCCAGGGCCCTGCCACATCAGAAATGGCTGTAGC... | pathogenic | 188,183 |
Chromosome 11, position 117393042, gene CEP164 (centrosomal protein 164): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['CEP164-related_disorder', 'Nephronophthisis_15'] | CCCAGGGCTGAGCAAGAGGCTTCCCTGCAGAAACTGAGAGAAGAGTTGGAGTCTCAACAGAAGGCTGAGAGGGCCAGCTTGGAACAGAAAAATAGGCAAATGCTGGAGCAGCTCAAGGAAGAGATAGAGGCTTCGGAGAAGAGCGAGCAGGCTGCCCTGAATGCTGCAAAGGAGAAGGCTCTGCAGCAGCTGAGGGAGCAGCTGGAAGGGGAGAGGAAAGAAGTGAGCTAGTCAAGTGGGGACCTCACCCTCTGACCTGTGTCTGGGCTGCCTGGGGAGGGACTGAGTGCACAAGGAGAAGAAGGGCAAGTCTCGGGTGG... | CCCAGGGCTGAGCAAGAGGCTTCCCTGCAGAAACTGAGAGAAGAGTTGGAGTCTCAACAGAAGGCTGAGAGGGCCAGCTTGGAACAGAAAAATAGGCAAATGCTGGAGCAGCTCAAGGAAGAGATAGAGGCTTCGGAGAAGAGCGAGCAGGCTGCCCTGAATGCTGCAAAGGAGAAGGCTCTGCAGCAGCTGAGGGAGCAGCTGGAAGGGGAGAGGAAAGAAGTGAGCTAGTCAAGTGGGGACCTCACCCTCTGACCTGTGTCTGGGCTGCCTGGGGAGGGACTGAGTGCACAAGGAGAAGAAGGGCAAGTCTCGGGTGG... | pathogenic | 188,205 |
The mutation impacting CEP164 (centrosomal protein 164) on chromosome 11 at position 117396185: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CCAGCCTCTGCTTCAGCTCTAGAGGGCTGCAGGCTTGCTGGGGCCAGGGCCGGTGCTGTGCTTGTAACCCTCCTCTTCTCCAAGAGCTGGCTTTAGGGAGCCGATGGTGTCCCTGATCTTACTGATGCAAGGCTGCAGGGCTAGGGGAGCTGTGATTTTTGTGGTAGAAGGGGCTGCCGCAGCTTCCCACCGGTGGGCCCACCCTCCTTGCAGGAGAGGAAGCAGCGGGCTGAGCTTCTGGGGCACCTGACCGGAGAGCTGGAGCGCCTGCAGAGGGCCCATGAACGAGAACTGGAGACTGTGAGGCAGGAGCAACACAA... | CCAGCCTCTGCTTCAGCTCTAGAGGGCTGCAGGCTTGCTGGGGCCAGGGCCGGTGCTGTGCTTGTAACCCTCCTCTTCTCCAAGAGCTGGCTTTAGGGAGCCGATGGTGTCCCTGATCTTACTGATGCAAGGCTGCAGGGCTAGGGGAGCTGTGATTTTTGTGGTAGAAGGGGCTGCCGCAGCTTCCCACCGGTGGGCCCACCCTCCTTGCAGGAGAGGAAGCAGCGGGCTGAGCTTCTGGGGCACCTGACCGGAGAGCTGGAGCGCCTGCAGAGGGCCCATGAACGAGAACTGGAGACTGTGAGGCAGGAGCAACACAA... | benign | 188,229 |
Variant in CEP164 (centrosomal protein 164), chromosome 11, position 117409869—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Nephronophthisis_15'] | ACTATAGTAATTTGTTCAAGATCACCCAGTCAGCAAATGGCAGGGTTGGGACTCCAGCGTCTGTGTGGGTAGTCATTTCTCCTCTGTTTTCTCCTTGGCTGCAGGAGACCAGGCACCTGGATGAGATGAAGTCGGCCATGCGGAAAGGCCACAACCTGCTGAAGAAGAAAGAGGAGAAGCTGAATCAGTTGGAGTCCTCTCTTTGGGAAGAGGTGCAGCCCCATGTCCACATAGTCCAGTGGGCCCTGGCCTTCCTCTTCTGTTCTTGGGATTGGGTTGAGTTCTTTGGTCCTGCATCCGGGGGAGTTGGGCCTCTAGGG... | ACTATAGTAATTTGTTCAAGATCACCCAGTCAGCAAATGGCAGGGTTGGGACTCCAGCGTCTGTGTGGGTAGTCATTTCTCCTCTGTTTTCTCCTTGGCTGCAGGAGACCAGGCACCTGGATGAGATGAAGTCGGCCATGCGGAAAGGCCACAACCTGCTGAAGAAGAAAGAGGAGAAGCTGAATCAGTTGGAGTCCTCTCTTTGGGAAGAGGTGCAGCCCCATGTCCACATAGTCCAGTGGGCCCTGGCCTTCCTCTTCTGTTCTTGGGATTGGGTTGAGTTCTTTGGTCCTGCATCCGGGGGAGTTGGGCCTCTAGGG... | pathogenic | 188,250 |
Does the chromosome 11 mutation at position 118176350 within gene SCN2B (sodium voltage-gated channel beta subunit 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TGGAGTCAACGGTCTCAAGAAAAACTTGAGGGAAGCCCAGTCATTTGAATTGTTTCTGGCTAAAACTAGCCTCATATGCTTCTGCCGTGGGTAGAGCTGGTTGCCCACCTGCCCTTTCTCTTTGCCACCTCCATAGTCATCCCCACAAGCCCAGCCCCGACAGAGTCCCCTCCCTCGTCACTTGTGGCATCCTCCATCCTGGGGATCGATGCTACTGCAACACCACCAAAGTTCCACTGTCAACTCGGCCCTCAGCATTGGAGTGCCAGGGACATGCCTCATTACAGCACCAATCAAGTTCAAGTTCAAGGTCCCCATTC... | TGGAGTCAACGGTCTCAAGAAAAACTTGAGGGAAGCCCAGTCATTTGAATTGTTTCTGGCTAAAACTAGCCTCATATGCTTCTGCCGTGGGTAGAGCTGGTTGCCCACCTGCCCTTTCTCTTTGCCACCTCCATAGTCATCCCCACAAGCCCAGCCCCGACAGAGTCCCCTCCCTCGTCACTTGTGGCATCCTCCATCCTGGGGATCGATGCTACTGCAACACCACCAAAGTTCCACTGTCAACTCGGCCCTCAGCATTGGAGTGCCAGGGACATGCCTCATTACAGCACCAATCAAGTTCAAGTTCAAGGTCCCCATTC... | benign | 188,462 |
Assess the variant on chromosome 11, position 118260174, impacting MPZL2 (myelin protein zero like 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hearing_loss,_autosomal_recessive_111'] | CATATACGAAAACGAACTCAAAGATCTAAATGTAAAAATTAAGACTATAAAACTCTTAGAAGAAAACATAGCCATAAATCTTCATGATCTTGGGGATTAGGCAGTGGTTTTTTAGATGAGACACAAAAGCACTAGCAGCAAAAGAGAAAAAATAAACTGGACTTCATCAAAATTTAACTTTTGTTCTTCAAAGGACACTATGAAGAACATGAAAAGACAACCCACAGAATGGGAAAAAAATTGCAAGTTGTATATCTGATAAGGAACTAGTATCCCTTAAATAACTCTTACAGTTCAACAAGAATAAGTGAAATAATGTA... | CATATACGAAAACGAACTCAAAGATCTAAATGTAAAAATTAAGACTATAAAACTCTTAGAAGAAAACATAGCCATAAATCTTCATGATCTTGGGGATTAGGCAGTGGTTTTTTAGATGAGACACAAAAGCACTAGCAGCAAAAGAGAAAAAATAAACTGGACTTCATCAAAATTTAACTTTTGTTCTTCAAAGGACACTATGAAGAACATGAAAAGACAACCCACAGAATGGGAAAAAAATTGCAAGTTGTATATCTGATAAGGAACTAGTATCCCTTAAATAACTCTTACAGTTCAACAAGAATAAGTGAAATAATGTA... | pathogenic | 188,467 |
For chromosome 11, position 118263083, gene MPZL2 (myelin protein zero like 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hearing_loss,_autosomal_recessive', 'Hearing_loss,_autosomal_recessive_111', 'MPZL2-related_disorder'] | TCCACTGTTTTATGGGAAGCAGGGCCATGGCTTTTATTTGATTCTCAAAGAATAATTATCCACATATATTTAAGAACCACTGATTTTTTGTGTGTTTAACCTCTTCATTGTGCAGATGAAGAAACTGAGGTCCAAAACCATTACATTATTTCTTTCAATACTCAAATGACTTCTGCAAGGTCACACAGCCCTCTATTGGTGGGGCATTGAGAAATGGTTTTAAACTGTACTATGAATGAAAGGAAATCGTACCACTGCACAGGCTTATATGTTTGGAGTAGTGTTGGTTAAGAGCACACACCAGAGAGCACTAGGTTGAA... | TCCACTGTTTTATGGGAAGCAGGGCCATGGCTTTTATTTGATTCTCAAAGAATAATTATCCACATATATTTAAGAACCACTGATTTTTTGTGTGTTTAACCTCTTCATTGTGCAGATGAAGAAACTGAGGTCCAAAACCATTACATTATTTCTTTCAATACTCAAATGACTTCTGCAAGGTCACACAGCCCTCTATTGGTGGGGCATTGAGAAATGGTTTTAAACTGTACTATGAATGAAAGGAAATCGTACCACTGCACAGGCTTATATGTTTGGAGTAGTGTTGGTTAAGAGCACACACCAGAGAGCACTAGGTTGAA... | pathogenic | 188,470 |
Evaluate the clinical significance of the mutation at chromosome 11, position 118263087 in gene MPZL2 (myelin protein zero like 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hearing_loss,_autosomal_recessive_111'] | CTGTTTTATGGGAAGCAGGGCCATGGCTTTTATTTGATTCTCAAAGAATAATTATCCACATATATTTAAGAACCACTGATTTTTTGTGTGTTTAACCTCTTCATTGTGCAGATGAAGAAACTGAGGTCCAAAACCATTACATTATTTCTTTCAATACTCAAATGACTTCTGCAAGGTCACACAGCCCTCTATTGGTGGGGCATTGAGAAATGGTTTTAAACTGTACTATGAATGAAAGGAAATCGTACCACTGCACAGGCTTATATGTTTGGAGTAGTGTTGGTTAAGAGCACACACCAGAGAGCACTAGGTTGAAATAC... | CTGTTTTATGGGAAGCAGGGCCATGGCTTTTATTTGATTCTCAAAGAATAATTATCCACATATATTTAAGAACCACTGATTTTTTGTGTGTTTAACCTCTTCATTGTGCAGATGAAGAAACTGAGGTCCAAAACCATTACATTATTTCTTTCAATACTCAAATGACTTCTGCAAGGTCACACAGCCCTCTATTGGTGGGGCATTGAGAAATGGTTTTAAACTGTACTATGAATGAAAGGAAATCGTACCACTGCACAGGCTTATATGTTTGGAGTAGTGTTGGTTAAGAGCACACACCAGAGAGCACTAGGTTGAAATAC... | pathogenic | 188,471 |
Mutation at chromosome 11, position 118312642, within CD3E (CD3 epsilon subunit of T-cell receptor complex): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Immunodeficiency_18'] | CATTTCTGTCTAAGCACAGACATCTAGACCCTTGTGTGAGCATGAGTTAAGTCTAAGCTCTGCTACTGAATTTGTGCCAATAAAAGTTGTGAGCAATTTTCTTTACATTTTTTTCAAACAAACACACCCAGCAGAGTATAATGTCTATGTACTTTATTTATGATTTCTAGTTCATTTAACATGTCTAAGAAACATCCGTGTTGAAAAATTATTTATAAATTAAAATAATATAAACTATCTACTGTCCTTATACTCAACTCCCAATTATAAGCAGGTGGAAAAACCTGGAGAATGTTTTGTTTACATTCTGTGCAGTCTTT... | CATTTCTGTCTAAGCACAGACATCTAGACCCTTGTGTGAGCATGAGTTAAGTCTAAGCTCTGCTACTGAATTTGTGCCAATAAAAGTTGTGAGCAATTTTCTTTACATTTTTTTCAAACAAACACACCCAGCAGAGTATAATGTCTATGTACTTTATTTATGATTTCTAGTTCATTTAACATGTCTAAGAAACATCCGTGTTGAAAAATTATTTATAAATTAAAATAATATAAACTATCTACTGTCCTTATACTCAACTCCCAATTATAAGCAGGTGGAAAAACCTGGAGAATGTTTTGTTTACATTCTGTGCAGTCTTT... | pathogenic | 188,487 |
Does the genetic variant at chromosome 11, position 118312686, impacting gene CD3E (CD3 epsilon subunit of T-cell receptor complex), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic | AGTTAAGTCTAAGCTCTGCTACTGAATTTGTGCCAATAAAAGTTGTGAGCAATTTTCTTTACATTTTTTTCAAACAAACACACCCAGCAGAGTATAATGTCTATGTACTTTATTTATGATTTCTAGTTCATTTAACATGTCTAAGAAACATCCGTGTTGAAAAATTATTTATAAATTAAAATAATATAAACTATCTACTGTCCTTATACTCAACTCCCAATTATAAGCAGGTGGAAAAACCTGGAGAATGTTTTGTTTACATTCTGTGCAGTCTTTGTCAGAGGGCTGCCTGAGCAACTGGGTCAGAGTTTAGTTCTGCT... | AGTTAAGTCTAAGCTCTGCTACTGAATTTGTGCCAATAAAAGTTGTGAGCAATTTTCTTTACATTTTTTTCAAACAAACACACCCAGCAGAGTATAATGTCTATGTACTTTATTTATGATTTCTAGTTCATTTAACATGTCTAAGAAACATCCGTGTTGAAAAATTATTTATAAATTAAAATAATATAAACTATCTACTGTCCTTATACTCAACTCCCAATTATAAGCAGGTGGAAAAACCTGGAGAATGTTTTGTTTACATTCTGTGCAGTCTTTGTCAGAGGGCTGCCTGAGCAACTGGGTCAGAGTTTAGTTCTGCT... | pathogenic | 188,488 |
Mutation at chromosome 11, position 118339709, within CD3D (CD3 delta subunit of T-cell receptor complex): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCTGCATTTATATTTTTAATAAATCCCTCAGGCCTCCAAAGTTTCAGAACCATAGCTATTTTTTTTTTAAGATAGGGTCTCACTCTGTAGCCCAGGCTGGAGTGCAGTGGCACAATCATAACTCACTGCAGCCTCCAATTCCCAGCCTCATGCAATCCTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGTGCCCACCACTGCACTGAGCTGATTTTGTTTTTTTTTTTGGTCGAGACGGGATGTTGCTATGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTC... | TGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCTGCATTTATATTTTTAATAAATCCCTCAGGCCTCCAAAGTTTCAGAACCATAGCTATTTTTTTTTTAAGATAGGGTCTCACTCTGTAGCCCAGGCTGGAGTGCAGTGGCACAATCATAACTCACTGCAGCCTCCAATTCCCAGCCTCATGCAATCCTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGTGCCCACCACTGCACTGAGCTGATTTTGTTTTTTTTTTTGGTCGAGACGGGATGTTGCTATGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTC... | benign | 188,507 |
Does the variant on chromosome 11 at location 118342589 affecting gene CD3D (CD3 delta subunit of T-cell receptor complex) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Immunodeficiency_19'] | ATTCACAAACACTCTGTCCTCAAGTTCCTCTATAGGTATCTTGAAGGGGCTCACTAAAGGGGAAAAAATATCACAGTTGGAGACAGCTCTTTGATCTGCACCAAGCCCTTTGTTCTGCGGAAGCTCATACTTAACAGAGACCATTTTCCTGGTCCAGGACAGTTTATGGCTTCCATCAAGAGAGACAGAAGTCACAAGAAAAAGCCTTCAGAAAGTTCCCCACCAACTGCAGGGGTCAAGGGGGACATGAGGATGCCATTCAAGCAGAGGACAGGTCTTGGGGCCTTGGTGCAAAAGAGGACCCCTCAGAGCAGGATTGA... | ATTCACAAACACTCTGTCCTCAAGTTCCTCTATAGGTATCTTGAAGGGGCTCACTAAAGGGGAAAAAATATCACAGTTGGAGACAGCTCTTTGATCTGCACCAAGCCCTTTGTTCTGCGGAAGCTCATACTTAACAGAGACCATTTTCCTGGTCCAGGACAGTTTATGGCTTCCATCAAGAGAGACAGAAGTCACAAGAAAAAGCCTTCAGAAAGTTCCCCACCAACTGCAGGGGTCAAGGGGGACATGAGGATGCCATTCAAGCAGAGGACAGGTCTTGGGGCCTTGGTGCAAAAGAGGACCCCTCAGAGCAGGATTGA... | pathogenic | 188,515 |
Regarding the variant at chromosome 11 and position 118349867, affecting gene CD3G: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Combined_immunodeficiency_due_to_CD3gamma_deficiency', 'Severe_combined_immunodeficiency_disease'] | CCATGTTGTCCAGGCTGGTGTCTAACTCCTGGGCTCAGGCAATCTGCCCACCTCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCTGCCAGTCAACTCTGAGTTATGAGACAGATTTGAGGACTAATTGAAAAGCTAACTTCCCTGGGACATCCAGGGTTTTTATAATAAAAGGATCACCAAGGCTGAATATTTTATAAGGAACTCAGCCTAAAGGTTTTGGATAGTGCACACCCACTCCTTGCCAGGGCATTAGCTGCTCAAGAAGCAGAGTGTTCTGGACTGGATAGGCAATATCCTTACTTACATATA... | CCATGTTGTCCAGGCTGGTGTCTAACTCCTGGGCTCAGGCAATCTGCCCACCTCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCTGCCAGTCAACTCTGAGTTATGAGACAGATTTGAGGACTAATTGAAAAGCTAACTTCCCTGGGACATCCAGGGTTTTTATAATAAAAGGATCACCAAGGCTGAATATTTTATAAGGAACTCAGCCTAAAGGTTTTGGATAGTGCACACCCACTCCTTGCCAGGGCATTAGCTGCTCAAGAAGCAGAGTGTTCTGGACTGGATAGGCAATATCCTTACTTACATATA... | pathogenic | 188,523 |
Mutation at chromosome 11, position 118349867, within CD3G: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Combined_immunodeficiency_due_to_CD3gamma_deficiency', 'Severe_combined_immunodeficiency_disease'] | CCATGTTGTCCAGGCTGGTGTCTAACTCCTGGGCTCAGGCAATCTGCCCACCTCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCTGCCAGTCAACTCTGAGTTATGAGACAGATTTGAGGACTAATTGAAAAGCTAACTTCCCTGGGACATCCAGGGTTTTTATAATAAAAGGATCACCAAGGCTGAATATTTTATAAGGAACTCAGCCTAAAGGTTTTGGATAGTGCACACCCACTCCTTGCCAGGGCATTAGCTGCTCAAGAAGCAGAGTGTTCTGGACTGGATAGGCAATATCCTTACTTACATATA... | CCATGTTGTCCAGGCTGGTGTCTAACTCCTGGGCTCAGGCAATCTGCCCACCTCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCTGCCAGTCAACTCTGAGTTATGAGACAGATTTGAGGACTAATTGAAAAGCTAACTTCCCTGGGACATCCAGGGTTTTTATAATAAAAGGATCACCAAGGCTGAATATTTTATAAGGAACTCAGCCTAAAGGTTTTGGATAGTGCACACCCACTCCTTGCCAGGGCATTAGCTGCTCAAGAAGCAGAGTGTTCTGGACTGGATAGGCAATATCCTTACTTACATATA... | pathogenic | 188,524 |
Determine whether the variant at chromosome 11, position 118350634, in gene CD3G is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TTGATTGAATCATTGGCCGCTTGACTGATCTCAATCTCTAGGATCCCTTCCTGGGGCTGATACCACTAGTTTCAAAGCTGCAATCCTCTTACCATATGGTTGGTCTTGACCAGCACCATCCTGAGTCATTGCCATGCATAAACTCAGGTATGGTCTAAGGATCCACCACAGATAACAAAGCCACTCCTGTCACTCATGAAATTCCAACGGTTAGAAACACCCTCCCAGGATACCAGGACAAAGATGAGACAAATTGTTTATTATCACCTTGAATTCAATTGAGTGATTTAGTCTACAATCCGGAAAACTAAGTATAGATA... | TTGATTGAATCATTGGCCGCTTGACTGATCTCAATCTCTAGGATCCCTTCCTGGGGCTGATACCACTAGTTTCAAAGCTGCAATCCTCTTACCATATGGTTGGTCTTGACCAGCACCATCCTGAGTCATTGCCATGCATAAACTCAGGTATGGTCTAAGGATCCACCACAGATAACAAAGCCACTCCTGTCACTCATGAAATTCCAACGGTTAGAAACACCCTCCCAGGATACCAGGACAAAGATGAGACAAATTGTTTATTATCACCTTGAATTCAATTGAGTGATTTAGTCTACAATCCGGAAAACTAAGTATAGATA... | benign | 188,527 |
Determine whether the variant at chromosome 11, position 118384947, in gene UBE4A is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GCCAGGCTTGATGATAAGTGCTTTTTTTTTTTTTTTAACATTATCCCATTGTCACCATTGGAAAAGTTTCACTCTATTATCCCTGTTTTATTTATTTTTTATTTTTTAATTATTCTTGTTTTACATATGAAGACATGACTGCCCAAAAGATCAGTTTGTCCATGTCATAACAAACTACCAAGTGGTAGAATCAGGTCTGTGTCACCTAAAGAAATCTACATATTCAACACCCTTATTATGTTGCATCATCAAATCAGACTCAAATTAGACTATTTGGGTCTTTATATTTCTCTGCCTTAAAATTACAGAATAGTGCATAA... | GCCAGGCTTGATGATAAGTGCTTTTTTTTTTTTTTTAACATTATCCCATTGTCACCATTGGAAAAGTTTCACTCTATTATCCCTGTTTTATTTATTTTTTATTTTTTAATTATTCTTGTTTTACATATGAAGACATGACTGCCCAAAAGATCAGTTTGTCCATGTCATAACAAACTACCAAGTGGTAGAATCAGGTCTGTGTCACCTAAAGAAATCTACATATTCAACACCCTTATTATGTTGCATCATCAAATCAGACTCAAATTAGACTATTTGGGTCTTTATATTTCTCTGCCTTAAAATTACAGAATAGTGCATAA... | benign | 188,531 |
Variant chromosome 11, position 118436678, gene KMT2A (lysine methyltransferase 2A): benign or pathogenic? Disease(s)? | pathogenic; ['Wiedemann-Steiner_syndrome'] | CTCTGTCCTTAGCAGAGCCTTGGGGCTGCCGTTTAAGACCCTCCTGCTACTCCCACCCTTTTAGCATCTAGTAAACCACGCGCTGTAACAACGGAATCTTGTTCTGTGTATTGCGTTGTGCGAGTGTGCGCTTTGCAAACCATCTGGGCCCCATCCTGCGCGGTTGGAACGAAGATCGATTCGGGACGAGTTGGGGGAGTTGAGGCTTGCCTGTGTCTCCTCCCTTTCATTGCTCCTCTCCAGCCCCCATCCCATCGTCCGCTCTGCACAAATGTTTCGCCAGTGGAGGGACGTAGGTTTTCAGCACCAGGAGGCTGTGG... | CTCTGTCCTTAGCAGAGCCTTGGGGCTGCCGTTTAAGACCCTCCTGCTACTCCCACCCTTTTAGCATCTAGTAAACCACGCGCTGTAACAACGGAATCTTGTTCTGTGTATTGCGTTGTGCGAGTGTGCGCTTTGCAAACCATCTGGGCCCCATCCTGCGCGGTTGGAACGAAGATCGATTCGGGACGAGTTGGGGGAGTTGAGGCTTGCCTGTGTCTCCTCCCTTTCATTGCTCCTCTCCAGCCCCCATCCCATCGTCCGCTCTGCACAAATGTTTCGCCAGTGGAGGGACGTAGGTTTTCAGCACCAGGAGGCTGTGG... | pathogenic | 188,536 |
Is the genetic mutation found on chromosome 11 at position 118436698, within the gene KMT2A (lysine methyltransferase 2A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGGGGCTGCCGTTTAAGACCCTCCTGCTACTCCCACCCTTTTAGCATCTAGTAAACCACGCGCTGTAACAACGGAATCTTGTTCTGTGTATTGCGTTGTGCGAGTGTGCGCTTTGCAAACCATCTGGGCCCCATCCTGCGCGGTTGGAACGAAGATCGATTCGGGACGAGTTGGGGGAGTTGAGGCTTGCCTGTGTCTCCTCCCTTTCATTGCTCCTCTCCAGCCCCCATCCCATCGTCCGCTCTGCACAAATGTTTCGCCAGTGGAGGGACGTAGGTTTTCAGCACCAGGAGGCTGTGGACCTTCTCTGGAGGCGTGAA... | TGGGGCTGCCGTTTAAGACCCTCCTGCTACTCCCACCCTTTTAGCATCTAGTAAACCACGCGCTGTAACAACGGAATCTTGTTCTGTGTATTGCGTTGTGCGAGTGTGCGCTTTGCAAACCATCTGGGCCCCATCCTGCGCGGTTGGAACGAAGATCGATTCGGGACGAGTTGGGGGAGTTGAGGCTTGCCTGTGTCTCCTCCCTTTCATTGCTCCTCTCCAGCCCCCATCCCATCGTCCGCTCTGCACAAATGTTTCGCCAGTGGAGGGACGTAGGTTTTCAGCACCAGGAGGCTGTGGACCTTCTCTGGAGGCGTGAA... | benign | 188,537 |
Does the genetic variant at chromosome 11, position 118472295, impacting gene KMT2A (lysine methyltransferase 2A), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Intellectual_disability'] | ACAATGGTAAGGAATCTTTTGATGTATTTCCGGGCAGGAGTTGTTTTGTTTGTTTGTTGTTTTTGTTTTTGTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTCTGGGCAGGAGTTTTATTTTGTTAATTCACAACTTTTTCATGGTAGTTTCCTCTTAAGTTTTTTTTCATGACTACCAGTCTACCTTGAATGTTGTCTTGTTTTCTAAGAAACCATCTCGATATGCTTCATTATTTGAGAAATGAGACATGGTTTCTCTGCTGTCTCCTAGTTTATTACCTTTGTTGTAATTAGGATATGTTGAGAAAGGAGCTG... | ACAATGGTAAGGAATCTTTTGATGTATTTCCGGGCAGGAGTTGTTTTGTTTGTTTGTTGTTTTTGTTTTTGTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTCTGGGCAGGAGTTTTATTTTGTTAATTCACAACTTTTTCATGGTAGTTTCCTCTTAAGTTTTTTTTCATGACTACCAGTCTACCTTGAATGTTGTCTTGTTTTCTAAGAAACCATCTCGATATGCTTCATTATTTGAGAAATGAGACATGGTTTCTCTGCTGTCTCCTAGTTTATTACCTTTGTTGTAATTAGGATATGTTGAGAAAGGAGCTG... | pathogenic | 188,546 |
The genetic variant at chromosome 11, position 118473366, affecting gene KMT2A (lysine methyltransferase 2A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Wiedemann-Steiner_syndrome'] | GTTTTTTCTTTACAATTCCTTTGAATTCAGAAAAAACCTTCTTGCTCATCTAAAATTGTAAGAAAATCAGTTTTGTGGATTAATTGTTCAACTGAAAACTTTTTATTATCTTTTTGTATCAAAAAAGTAATTAAATGTTCTTTCAGGTGGAATGTTATTTGCTGACTTCTTTGAGGCAAATTTTGGGTGAAAAGAAACTAAGCACAATTAAGATGTTTGATTGACTCATTAGACTCAAGTTGAACTCAGTACAAAATGGCCAGTGCTAAGTTATATTCAGCTTAGTTAAAACCTAAACTACACAGCTAAATATATGCTCT... | GTTTTTTCTTTACAATTCCTTTGAATTCAGAAAAAACCTTCTTGCTCATCTAAAATTGTAAGAAAATCAGTTTTGTGGATTAATTGTTCAACTGAAAACTTTTTATTATCTTTTTGTATCAAAAAAGTAATTAAATGTTCTTTCAGGTGGAATGTTATTTGCTGACTTCTTTGAGGCAAATTTTGGGTGAAAAGAAACTAAGCACAATTAAGATGTTTGATTGACTCATTAGACTCAAGTTGAACTCAGTACAAAATGGCCAGTGCTAAGTTATATTCAGCTTAGTTAAAACCTAAACTACACAGCTAAATATATGCTCT... | pathogenic | 188,555 |
Is the variant located on chromosome 11 at position 118473470, gene KMT2A (lysine methyltransferase 2A), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Inborn_genetic_diseases', 'Wiedemann-Steiner_syndrome'] | ATTATCTTTTTGTATCAAAAAAGTAATTAAATGTTCTTTCAGGTGGAATGTTATTTGCTGACTTCTTTGAGGCAAATTTTGGGTGAAAAGAAACTAAGCACAATTAAGATGTTTGATTGACTCATTAGACTCAAGTTGAACTCAGTACAAAATGGCCAGTGCTAAGTTATATTCAGCTTAGTTAAAACCTAAACTACACAGCTAAATATATGCTCTTCATTGTTTAATTTCTATACACAGTTAAAACTAGTCCTCGAAAACCTCGTGGGAGACCTAGAAGTGGCTCTGACCGAAATTCAGCTATCCTCTCAGATCCATCT... | ATTATCTTTTTGTATCAAAAAAGTAATTAAATGTTCTTTCAGGTGGAATGTTATTTGCTGACTTCTTTGAGGCAAATTTTGGGTGAAAAGAAACTAAGCACAATTAAGATGTTTGATTGACTCATTAGACTCAAGTTGAACTCAGTACAAAATGGCCAGTGCTAAGTTATATTCAGCTTAGTTAAAACCTAAACTACACAGCTAAATATATGCTCTTCATTGTTTAATTTCTATACACAGTTAAAACTAGTCCTCGAAAACCTCGTGGGAGACCTAGAAGTGGCTCTGACCGAAATTCAGCTATCCTCTCAGATCCATCT... | pathogenic | 188,557 |
Benign or pathogenic: chromosome 11, position 118473470, gene KMT2A (lysine methyltransferase 2A) variant? Disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Wiedemann-Steiner_syndrome'] | ATTATCTTTTTGTATCAAAAAAGTAATTAAATGTTCTTTCAGGTGGAATGTTATTTGCTGACTTCTTTGAGGCAAATTTTGGGTGAAAAGAAACTAAGCACAATTAAGATGTTTGATTGACTCATTAGACTCAAGTTGAACTCAGTACAAAATGGCCAGTGCTAAGTTATATTCAGCTTAGTTAAAACCTAAACTACACAGCTAAATATATGCTCTTCATTGTTTAATTTCTATACACAGTTAAAACTAGTCCTCGAAAACCTCGTGGGAGACCTAGAAGTGGCTCTGACCGAAATTCAGCTATCCTCTCAGATCCATCT... | ATTATCTTTTTGTATCAAAAAAGTAATTAAATGTTCTTTCAGGTGGAATGTTATTTGCTGACTTCTTTGAGGCAAATTTTGGGTGAAAAGAAACTAAGCACAATTAAGATGTTTGATTGACTCATTAGACTCAAGTTGAACTCAGTACAAAATGGCCAGTGCTAAGTTATATTCAGCTTAGTTAAAACCTAAACTACACAGCTAAATATATGCTCTTCATTGTTTAATTTCTATACACAGTTAAAACTAGTCCTCGAAAACCTCGTGGGAGACCTAGAAGTGGCTCTGACCGAAATTCAGCTATCCTCTCAGATCCATCT... | pathogenic | 188,558 |
Variant at chromosome position 118473505, chromosome 11, gene KMT2A (lysine methyltransferase 2A): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Wiedemann-Steiner_syndrome'] | CTTTCAGGTGGAATGTTATTTGCTGACTTCTTTGAGGCAAATTTTGGGTGAAAAGAAACTAAGCACAATTAAGATGTTTGATTGACTCATTAGACTCAAGTTGAACTCAGTACAAAATGGCCAGTGCTAAGTTATATTCAGCTTAGTTAAAACCTAAACTACACAGCTAAATATATGCTCTTCATTGTTTAATTTCTATACACAGTTAAAACTAGTCCTCGAAAACCTCGTGGGAGACCTAGAAGTGGCTCTGACCGAAATTCAGCTATCCTCTCAGATCCATCTGTGTTTTCCCCTCTAAATAAATCAGAGACCAAATC... | CTTTCAGGTGGAATGTTATTTGCTGACTTCTTTGAGGCAAATTTTGGGTGAAAAGAAACTAAGCACAATTAAGATGTTTGATTGACTCATTAGACTCAAGTTGAACTCAGTACAAAATGGCCAGTGCTAAGTTATATTCAGCTTAGTTAAAACCTAAACTACACAGCTAAATATATGCTCTTCATTGTTTAATTTCTATACACAGTTAAAACTAGTCCTCGAAAACCTCGTGGGAGACCTAGAAGTGGCTCTGACCGAAATTCAGCTATCCTCTCAGATCCATCTGTGTTTTCCCCTCTAAATAAATCAGAGACCAAATC... | pathogenic | 188,559 |
For chromosome 11, position 118473778, gene KMT2A (lysine methyltransferase 2A): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic | TCAGATCCATCTGTGTTTTCCCCTCTAAATAAATCAGAGACCAAATCTGGAGATAAGATCAAGAAGAAAGATTCTAAAAGTATAGAAAAGAAGAGAGGAAGACCTCCCACCTTCCCTGGAGTAAAAATCAAAATAACACATGGAAAGGACATTTCAGAGTTACCAAAGGGAAACAAAGAAGATAGCCTGAAAAAAATTAAAAGGACACCTTCTGCTACGTTTCAGCAAGCCACAAAGATTAAAAAATTAAGAGCAGGTAAACTCTCTCCTCTCAAGTCTAAGTTTAAGACAGGGAAGCTTCAAATAGGAAGGAAGGGGGT... | TCAGATCCATCTGTGTTTTCCCCTCTAAATAAATCAGAGACCAAATCTGGAGATAAGATCAAGAAGAAAGATTCTAAAAGTATAGAAAAGAAGAGAGGAAGACCTCCCACCTTCCCTGGAGTAAAAATCAAAATAACACATGGAAAGGACATTTCAGAGTTACCAAAGGGAAACAAAGAAGATAGCCTGAAAAAAATTAAAAGGACACCTTCTGCTACGTTTCAGCAAGCCACAAAGATTAAAAAATTAAGAGCAGGTAAACTCTCTCCTCTCAAGTCTAAGTTTAAGACAGGGAAGCTTCAAATAGGAAGGAAGGGGGT... | pathogenic | 188,563 |
Does the variant impacting KMT2A (lysine methyltransferase 2A) on chromosome 11, position 118474228, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Wiedemann-Steiner_syndrome'] | ACAAAAGAAGATAAGACAGTTGTCAGACAAAGCCCTCGAAGGATTAAGCCAGTTAGGATTATTCCTTCTTCAAAAAGGACAGATGCAACCATTGCTAAGCAACTCTTACAGAGGGCAAAAAAGGGGGCTCAAAAGAAAATTGAAAAAGAAGCAGCTCAGCTGCAGGGAAGAAAGGTGAAGACACAGGTCAAAAATATTCGACAGTTCATCATGCCTGTTGTCAGTGCTATCTCCTCGCGGATCATTAAGACCCCTCGGCGGTTTATAGAGGATGAGGATTATGACCCTCCAATTAAAATTGCCCGATTAGAGTCTACACC... | ACAAAAGAAGATAAGACAGTTGTCAGACAAAGCCCTCGAAGGATTAAGCCAGTTAGGATTATTCCTTCTTCAAAAAGGACAGATGCAACCATTGCTAAGCAACTCTTACAGAGGGCAAAAAAGGGGGCTCAAAAGAAAATTGAAAAAGAAGCAGCTCAGCTGCAGGGAAGAAAGGTGAAGACACAGGTCAAAAATATTCGACAGTTCATCATGCCTGTTGTCAGTGCTATCTCCTCGCGGATCATTAAGACCCCTCGGCGGTTTATAGAGGATGAGGATTATGACCCTCCAATTAAAATTGCCCGATTAGAGTCTACACC... | pathogenic | 188,569 |
Determine whether the variant at chromosome 11, position 118478089, in gene KMT2A (lysine methyltransferase 2A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Inborn_genetic_diseases'] | GATTACGGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAA... | GATTACGGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAA... | pathogenic | 188,576 |
Is chromosome 11, position 118488707, gene KMT2A (lysine methyltransferase 2A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Inborn_genetic_diseases', 'Wiedemann-Steiner_syndrome'] | GCTCAGGAGTTCAAGACCAGCCTGAGCACCATAGTGAGACCTCATCTCTACTAAAAAAAAAATAAAATACCAGGCATGGTAGCATGTGCCTGTAGTCCCAGCTACTCTAGTCCCAGCTACTTGGGAGGCTGAGGTGAGAGGATCACTTGAGCCCAGGAGATCGAGGCTGCAGTGAGCCATTATCACGCCACTGCACTCCAGCCTGGGCAACTAAGCAAGACCCTGTCTCAAAAAAATTTTTAAAAATTTAAAAAATAAGAAAATCCAAGCTAGGTTGAAATCTGAATGTTGAGCAGTCAGTGAGACACAAACTAGCTAAG... | GCTCAGGAGTTCAAGACCAGCCTGAGCACCATAGTGAGACCTCATCTCTACTAAAAAAAAAATAAAATACCAGGCATGGTAGCATGTGCCTGTAGTCCCAGCTACTCTAGTCCCAGCTACTTGGGAGGCTGAGGTGAGAGGATCACTTGAGCCCAGGAGATCGAGGCTGCAGTGAGCCATTATCACGCCACTGCACTCCAGCCTGGGCAACTAAGCAAGACCCTGTCTCAAAAAAATTTTTAAAAATTTAAAAAATAAGAAAATCCAAGCTAGGTTGAAATCTGAATGTTGAGCAGTCAGTGAGACACAAACTAGCTAAG... | pathogenic | 188,607 |
Is the genetic variant on chromosome 11, position 118496323, gene KMT2A (lysine methyltransferase 2A), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Wiedemann-Steiner_syndrome'] | TTTTTGTATACAGTTGGAGTTCAGTGATGATATTGTGAAGATCATTCAAGCAGCCATTAATTCAGATGGAGGACAGCCAGAAATTAAAAAAGCCAACAGCATGGTCAAGTCCTTCTTCATTCGGGTGAATGATATTACTAATTCATGTTTTTAATGCTTACCTATAAGTAATTACCCTGTGAATACAATGAACTTGTTCTCTTCTACTTTTTGCTTTGTGGTGTGTATAAAACATCTTTGGTTTAATTTGATCCCCTGATTCTTTGAGAGGAACTTGGTGAGGTTGCCAGAGTGGATGGATCTTTCTCTTGGTGGCCTGA... | TTTTTGTATACAGTTGGAGTTCAGTGATGATATTGTGAAGATCATTCAAGCAGCCATTAATTCAGATGGAGGACAGCCAGAAATTAAAAAAGCCAACAGCATGGTCAAGTCCTTCTTCATTCGGGTGAATGATATTACTAATTCATGTTTTTAATGCTTACCTATAAGTAATTACCCTGTGAATACAATGAACTTGTTCTCTTCTACTTTTTGCTTTGTGGTGTGTATAAAACATCTTTGGTTTAATTTGATCCCCTGATTCTTTGAGAGGAACTTGGTGAGGTTGCCAGAGTGGATGGATCTTTCTCTTGGTGGCCTGA... | pathogenic | 188,630 |
Gene mutation in KMT2A (lysine methyltransferase 2A) at chromosome 11, position 118497978—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic | TCTAGATGCAGATGATTGACTTCGTGAATCCAATTCACTAAAATTAGATATACTTGGATATCAGAAAGGAATTTTCAGGTCATCCTTAAATGTAATACCATCATTAATTTTGCTTCACTTGAGGTGTTAATGAGGACTTGATATAAATACTCTGGAGTATTGTAACATAGATGATGAGGTAGCGTAACTCTGAACACTTTTTGAAAAGTGGTTATTTTATAGGCTGTGGGCTATGTAAGCTGAATTATTTCTTTTTTCCTTGAAATCAGACATAGTATTGCCAATTTTAACTGGATCTCAAGGTATTGATGGGAGTCTTT... | TCTAGATGCAGATGATTGACTTCGTGAATCCAATTCACTAAAATTAGATATACTTGGATATCAGAAAGGAATTTTCAGGTCATCCTTAAATGTAATACCATCATTAATTTTGCTTCACTTGAGGTGTTAATGAGGACTTGATATAAATACTCTGGAGTATTGTAACATAGATGATGAGGTAGCGTAACTCTGAACACTTTTTGAAAAGTGGTTATTTTATAGGCTGTGGGCTATGTAAGCTGAATTATTTCTTTTTTCCTTGAAATCAGACATAGTATTGCCAATTTTAACTGGATCTCAAGGTATTGATGGGAGTCTTT... | pathogenic | 188,634 |
The mutation impacting KMT2A (lysine methyltransferase 2A) on chromosome 11 at position 118498058: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases'] | CATCCTTAAATGTAATACCATCATTAATTTTGCTTCACTTGAGGTGTTAATGAGGACTTGATATAAATACTCTGGAGTATTGTAACATAGATGATGAGGTAGCGTAACTCTGAACACTTTTTGAAAAGTGGTTATTTTATAGGCTGTGGGCTATGTAAGCTGAATTATTTCTTTTTTCCTTGAAATCAGACATAGTATTGCCAATTTTAACTGGATCTCAAGGTATTGATGGGAGTCTTTTGGATTTCAAGGTACTGATAGGAGTCGAGAAGACAGTCCAGAGCTGAACCCACCCCCAGGCATAGAAGACAATAGACAGT... | CATCCTTAAATGTAATACCATCATTAATTTTGCTTCACTTGAGGTGTTAATGAGGACTTGATATAAATACTCTGGAGTATTGTAACATAGATGATGAGGTAGCGTAACTCTGAACACTTTTTGAAAAGTGGTTATTTTATAGGCTGTGGGCTATGTAAGCTGAATTATTTCTTTTTTCCTTGAAATCAGACATAGTATTGCCAATTTTAACTGGATCTCAAGGTATTGATGGGAGTCTTTTGGATTTCAAGGTACTGATAGGAGTCGAGAAGACAGTCCAGAGCTGAACCCACCCCCAGGCATAGAAGACAATAGACAGT... | pathogenic | 188,637 |
Variant in gene KMT2A (lysine methyltransferase 2A), located at chromosome 11 position 118498550: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TTACCTATAACTTATAACTTATTAATTTGTAACTTATTTTTTGTCACTTAGTTCATGGCACTTGGAGTTTTTTAATGACTGATTTTGTTGATTAAAAGGTGACTGATTTGCCTTAAATTAAACCCTTGATGTCTAGTAATTTCTAATGGAAGTTCCTCAAGAATATTTTGTGAAAGTTAATAAAATCTAAGTTGCATATTAAAAAGCTTGTGTTTCATATAGGATAGCAGAATCGTTAAGAGCCCGAGTTCTGCCGCCTGCCTGAATACATTTCTGTGCTTAACTGCCTACTTATTGACTTTGGCAAGTAGTTTAACCTC... | TTACCTATAACTTATAACTTATTAATTTGTAACTTATTTTTTGTCACTTAGTTCATGGCACTTGGAGTTTTTTAATGACTGATTTTGTTGATTAAAAGGTGACTGATTTGCCTTAAATTAAACCCTTGATGTCTAGTAATTTCTAATGGAAGTTCCTCAAGAATATTTTGTGAAAGTTAATAAAATCTAAGTTGCATATTAAAAAGCTTGTGTTTCATATAGGATAGCAGAATCGTTAAGAGCCCGAGTTCTGCCGCCTGCCTGAATACATTTCTGTGCTTAACTGCCTACTTATTGACTTTGGCAAGTAGTTTAACCTC... | benign | 188,641 |
Does the chromosome 11 mutation at position 118503456 within gene KMT2A (lysine methyltransferase 2A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Wiedemann-Steiner_syndrome'] | GCAGTCAGCCAAGATCACGCCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTGTGTCTCAAAGAAAAAAAAAAAAAGATGTGATGGAACTTGAATTCGATTCAGGGAGTACTATGATTGAAAGCTGGGGGAAAAGTCATTTACTTGGGAAGTCTCATTTGCTTCTAGTTTTACATTTACCTGATAGCTGACTTTTTATTGGTTAATTTGTTTGATATTTTAATTGGGCCTTTTTAGTTAAGAGTTTTTATTTCCTGCCACAGAAAGTTCATCAAAAGAGAGTCAAAACACAGCTGAAATTATAAGTCCTCCATCACCA... | GCAGTCAGCCAAGATCACGCCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTGTGTCTCAAAGAAAAAAAAAAAAAGATGTGATGGAACTTGAATTCGATTCAGGGAGTACTATGATTGAAAGCTGGGGGAAAAGTCATTTACTTGGGAAGTCTCATTTGCTTCTAGTTTTACATTTACCTGATAGCTGACTTTTTATTGGTTAATTTGTTTGATATTTTAATTGGGCCTTTTTAGTTAAGAGTTTTTATTTCCTGCCACAGAAAGTTCATCAAAAGAGAGTCAAAACACAGCTGAAATTATAAGTCCTCCATCACCA... | pathogenic | 188,686 |
Gene mutation in KMT2A (lysine methyltransferase 2A) at chromosome 11, position 118503550—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Wiedemann-Steiner_syndrome'] | AATTCGATTCAGGGAGTACTATGATTGAAAGCTGGGGGAAAAGTCATTTACTTGGGAAGTCTCATTTGCTTCTAGTTTTACATTTACCTGATAGCTGACTTTTTATTGGTTAATTTGTTTGATATTTTAATTGGGCCTTTTTAGTTAAGAGTTTTTATTTCCTGCCACAGAAAGTTCATCAAAAGAGAGTCAAAACACAGCTGAAATTATAAGTCCTCCATCACCAGACCGACCTCCTCATTCACAAACCTCTGGCTCCTGTTATTATCATGTCATCTCAAAGGTCCCCAGGATTCGAACACCCAGTTATTCTCCAACAC... | AATTCGATTCAGGGAGTACTATGATTGAAAGCTGGGGGAAAAGTCATTTACTTGGGAAGTCTCATTTGCTTCTAGTTTTACATTTACCTGATAGCTGACTTTTTATTGGTTAATTTGTTTGATATTTTAATTGGGCCTTTTTAGTTAAGAGTTTTTATTTCCTGCCACAGAAAGTTCATCAAAAGAGAGTCAAAACACAGCTGAAATTATAAGTCCTCCATCACCAGACCGACCTCCTCATTCACAAACCTCTGGCTCCTGTTATTATCATGTCATCTCAAAGGTCCCCAGGATTCGAACACCCAGTTATTCTCCAACAC... | pathogenic | 188,687 |
Variant at chromosome position 118504027, chromosome 11, gene KMT2A (lysine methyltransferase 2A): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Wiedemann-Steiner_syndrome'] | GAGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATTCAAAAATTAGCCAGGTGTGGCGGTGCATGCCTGTAATCCCAGCTACCCAGGAGGCTAAGGCAGGAGAATCGCTGGAACCCAGGAGGTGGAGGTTGCAGTAAGCCGAGATCGCACCACTGCACTCCAGCTTGGGTGACAGAGTGAGACACTGTCTCAAAAAAGTAATAATAAATAAATAGAAAATGTAGATTTCCAGTTACC... | GAGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATTCAAAAATTAGCCAGGTGTGGCGGTGCATGCCTGTAATCCCAGCTACCCAGGAGGCTAAGGCAGGAGAATCGCTGGAACCCAGGAGGTGGAGGTTGCAGTAAGCCGAGATCGCACCACTGCACTCCAGCTTGGGTGACAGAGTGAGACACTGTCTCAAAAAAGTAATAATAAATAAATAGAAAATGTAGATTTCCAGTTACC... | pathogenic | 188,697 |
The chromosome 11, position 118505801 genetic variant in gene KMT2A (lysine methyltransferase 2A): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Wiedemann-Steiner_syndrome'] | CGTCGCAGTGCCCGTGCACGTTCTAACATGTTTTTTGGGCTTACCCCACTCTATGGAGTAAGATCCTATGGTGAAGAAGACATTCCATTCTACAGCAGCTCAACTGGGAAGAAGCGAGGCAAGAGATCAGCTGAAGGACAGGTGGATGGGGCCGATGACTTAAGCACTTCAGATGAAGACGACTTATACTATTACAACTTCACTAGAACAGTGATTTCTTCAGGTGGAGAGGAACGACTGGCATCCCATAATTTATTTCGGGAGGAGGAACAGTGTGATCTTCCAAAAATCTCACAGTTGGATGGTGTTGATGATGGGAC... | CGTCGCAGTGCCCGTGCACGTTCTAACATGTTTTTTGGGCTTACCCCACTCTATGGAGTAAGATCCTATGGTGAAGAAGACATTCCATTCTACAGCAGCTCAACTGGGAAGAAGCGAGGCAAGAGATCAGCTGAAGGACAGGTGGATGGGGCCGATGACTTAAGCACTTCAGATGAAGACGACTTATACTATTACAACTTCACTAGAACAGTGATTTCTTCAGGTGGAGAGGAACGACTGGCATCCCATAATTTATTTCGGGAGGAGGAACAGTGTGATCTTCCAAAAATCTCACAGTTGGATGGTGTTGATGATGGGAC... | pathogenic | 188,719 |
A genetic variant on chromosome 11, position 118519608, affects the gene KMT2A. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GTGCAGTGGCTCACACCTGTAATCCTACCTAGCAAGTTGGGAGGCCAAGGAAGGAGGATCACTCGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACACAGTAAGACCCTGTCTCCACAAGAAATTTAAAAATTAGCCAAACACAGTGGCATATATGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGCGGGAGCAGCTTGAGCCCAGAAATTCAAGGTTACAGTGAGCTATGATCATGCTACTGCACTCCAGCCTGGGCAACAAAGTGAAACCTGTCTCTTAGAAAAAGAATATTGCTTATCTAGAGACAACATTCTTTT... | GTGCAGTGGCTCACACCTGTAATCCTACCTAGCAAGTTGGGAGGCCAAGGAAGGAGGATCACTCGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACACAGTAAGACCCTGTCTCCACAAGAAATTTAAAAATTAGCCAAACACAGTGGCATATATGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGCGGGAGCAGCTTGAGCCCAGAAATTCAAGGTTACAGTGAGCTATGATCATGCTACTGCACTCCAGCCTGGGCAACAAAGTGAAACCTGTCTCTTAGAAAAAGAATATTGCTTATCTAGAGACAACATTCTTTT... | benign | 188,756 |
Gene mutation in SLC37A4 (solute carrier family 37 member 4) at chromosome 11, position 119025024—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Glucose-6-phosphate_transport_defect'] | TTTTTGAGACTGAGCTTCACTCTTAACCACCCAGGCTGGAATGCAATGGTGCCATCACGGCTCACCACAACCTCTGCCTTCCGGGTTCAGGCGATTCTTTTGTCTCAGCCTCCGGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTAGTCTCAAAGTCCTGACCTCAGCTGATCCGCCCACCTCAGCCTTCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTT... | TTTTTGAGACTGAGCTTCACTCTTAACCACCCAGGCTGGAATGCAATGGTGCCATCACGGCTCACCACAACCTCTGCCTTCCGGGTTCAGGCGATTCTTTTGTCTCAGCCTCCGGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTAGTCTCAAAGTCCTGACCTCAGCTGATCCGCCCACCTCAGCCTTCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTT... | pathogenic | 188,847 |
Located at chromosome 11 position 119025050, the variant affecting gene SLC37A4 (solute carrier family 37 member 4)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | CCACCCAGGCTGGAATGCAATGGTGCCATCACGGCTCACCACAACCTCTGCCTTCCGGGTTCAGGCGATTCTTTTGTCTCAGCCTCCGGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTAGTCTCAAAGTCCTGACCTCAGCTGATCCGCCCACCTCAGCCTTCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGG... | CCACCCAGGCTGGAATGCAATGGTGCCATCACGGCTCACCACAACCTCTGCCTTCCGGGTTCAGGCGATTCTTTTGTCTCAGCCTCCGGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTAGTCTCAAAGTCCTGACCTCAGCTGATCCGCCCACCTCAGCCTTCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGG... | pathogenic | 188,849 |
Chromosome 11, position 119025184, gene SLC37A4 (solute carrier family 37 member 4): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Glucose-6-phosphate_transport_defect', 'Phosphate_transport_defect'] | TGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTAGTCTCAAAGTCCTGACCTCAGCTGATCCGCCCACCTCAGCCTTCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCT... | TGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTAGTCTCAAAGTCCTGACCTCAGCTGATCCGCCCACCTCAGCCTTCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCT... | pathogenic | 188,855 |
Does the variant impacting SLC37A4 (solute carrier family 37 member 4) on chromosome 11, position 119025248, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | GCTGATCCGCCCACCTCAGCCTTCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGAC... | GCTGATCCGCCCACCTCAGCCTTCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGAC... | pathogenic | 188,863 |
Classify the chromosome 11 variant at position 119025270 affecting gene SLC37A4 (solute carrier family 37 member 4) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Congenital_disorder_of_glycosylation,_type_IIw', 'Glucose-6-phosphate_transport_defect', 'Glycogen_storage_disease', 'Glycogen_storage_disease,_type_I', 'Inborn_genetic_diseases', 'Phosphate_transport_defect'] | TCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGACCCTGATGACTTGTACTGATTCC... | TCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGACCCTGATGACTTGTACTGATTCC... | pathogenic | 188,866 |
Does the variant impacting SLC37A4 (solute carrier family 37 member 4) on chromosome 11, position 119025275, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | GATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGACCCTGATGACTTGTACTGATTCCTGAGC... | GATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGACCCTGATGACTTGTACTGATTCCTGAGC... | pathogenic | 188,867 |
Considering the variant on chromosome 11, location 119025969, involving gene SLC37A4 (solute carrier family 37 member 4), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | TTTCAAGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCA... | TTTCAAGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCA... | pathogenic | 188,878 |
A genetic alteration at chromosome 11, position 119025974, in gene SLC37A4 (solute carrier family 37 member 4)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | AGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTC... | AGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTC... | pathogenic | 188,879 |
Evaluate if the mutation on chromosome 11 at position 119026014 in SLC37A4 (solute carrier family 37 member 4) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | CTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGA... | CTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGA... | pathogenic | 188,882 |
A mutation at chromosome position 119026014 on chromosome 11 in gene SLC37A4 (solute carrier family 37 member 4): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | CTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGA... | CTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGA... | pathogenic | 188,883 |
The mutation in gene SLC37A4 (solute carrier family 37 member 4) at chromosome 11, position 119026025—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glucose-6-phosphate_transport_defect'] | CTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTA... | CTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTA... | pathogenic | 188,884 |
The mutation impacting SLC37A4 (solute carrier family 37 member 4) on chromosome 11 at position 119026624: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glucose-6-phosphate_transport_defect'] | GGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGG... | GGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGG... | pathogenic | 188,901 |
Chromosome 11, position 119026654, gene SLC37A4 (solute carrier family 37 member 4): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glucose-6-phosphate_transport_defect'] | GCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTG... | GCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTG... | pathogenic | 188,902 |
Gene SLC37A4 (solute carrier family 37 member 4) variant at chromosome 11, position 119026686—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | CCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCG... | CCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCG... | pathogenic | 188,904 |
Evaluate if the mutation on chromosome 11 at position 119026703 in SLC37A4 (solute carrier family 37 member 4) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAG... | CCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAG... | benign | 188,905 |
Variant at chromosome position 119027011, chromosome 11, gene SLC37A4 (solute carrier family 37 member 4): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | GGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGG... | GGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGG... | pathogenic | 188,915 |
Considering the variant on chromosome 11, location 119027012, involving gene SLC37A4 (solute carrier family 37 member 4), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | GAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGC... | GAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGC... | pathogenic | 188,916 |
The genetic variant at chromosome 11, position 119027657, affecting gene SLC37A4 (solute carrier family 37 member 4): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | ACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCT... | ACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCT... | pathogenic | 188,931 |
Located at chromosome 11 position 119027725, the variant affecting gene SLC37A4 (solute carrier family 37 member 4)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | ATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCG... | ATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCG... | benign | 188,940 |
The genetic variant at chromosome 11, position 119027793, affecting gene SLC37A4 (solute carrier family 37 member 4): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | AGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGT... | AGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGT... | pathogenic | 188,945 |
Regarding the variant found on chromosome 11 at position 119027855 in gene SLC37A4 (solute carrier family 37 member 4): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Glucose-6-phosphate_transport_defect'] | AGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGA... | AGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGA... | pathogenic | 188,949 |
Considering the variant on chromosome 11, location 119028204, involving gene SLC37A4 (solute carrier family 37 member 4), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | AGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCA... | AGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCA... | pathogenic | 188,958 |
Variant on chromosome 11, at position 119028215, affecting SLC37A4 (solute carrier family 37 member 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Congenital_disorder_of_glycosylation,_type_IIw', 'Glucose-6-phosphate_transport_defect', 'Phosphate_transport_defect'] | TGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAA... | TGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAA... | pathogenic | 188,960 |
Gene SLC37A4 (solute carrier family 37 member 4) variant at chromosome 11, position 119028229—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | CAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAA... | CAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAA... | pathogenic | 188,964 |
Evaluate the clinical significance of the mutation at chromosome 11, position 119028229 in gene SLC37A4 (solute carrier family 37 member 4): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | CAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAA... | CAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAA... | pathogenic | 188,965 |
A genetic variant on chromosome 11, position 119028379, affects the gene SLC37A4 (solute carrier family 37 member 4). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | CCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTAC... | CCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTAC... | pathogenic | 188,971 |
Clinically, how would you classify the variant at chromosome 11, position 119028399, gene SLC37A4 (solute carrier family 37 member 4): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Glucose-6-phosphate_transport_defect'] | GAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGG... | GAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGG... | pathogenic | 188,973 |
The mutation impacting SLC37A4 (solute carrier family 37 member 4) on chromosome 11 at position 119029292: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Congenital_disorder_of_glycosylation,_type_IIw', 'Glucose-6-phosphate_transport_defect', 'Phosphate_transport_defect'] | CCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCT... | CCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCT... | pathogenic | 188,992 |
The genetic variant at chromosome 11, position 119029310, affecting gene SLC37A4 (solute carrier family 37 member 4): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | GCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCT... | GCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCT... | pathogenic | 188,993 |
Variant on chromosome 11, at position 119092799, affecting HMBS (hydroxymethylbilane synthase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Acute_intermittent_porphyria'] | TGGGATTACAGGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTAGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCAGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCTTGAGCCCCGCACCCGGTCAGTACTTCCATTTTTATATGCTACTATATTGTCTTGACTTTTACAATGAATATGTAGTACATTTCATAAAACTAAATTTAAAAATAGTATGTGCTAAGTGCTCCAATAAGTGAAGTTGGGAATTTTCTGGAAACTTCTAGTTGGAACATCTAAACAC... | TGGGATTACAGGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTAGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCAGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCTTGAGCCCCGCACCCGGTCAGTACTTCCATTTTTATATGCTACTATATTGTCTTGACTTTTACAATGAATATGTAGTACATTTCATAAAACTAAATTTAAAAATAGTATGTGCTAAGTGCTCCAATAAGTGAAGTTGGGAATTTTCTGGAAACTTCTAGTTGGAACATCTAAACAC... | pathogenic | 189,088 |
Is the genetic change at chromosome 11, position 119092972, within gene HMBS (hydroxymethylbilane synthase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | TTTTTATATGCTACTATATTGTCTTGACTTTTACAATGAATATGTAGTACATTTCATAAAACTAAATTTAAAAATAGTATGTGCTAAGTGCTCCAATAAGTGAAGTTGGGAATTTTCTGGAAACTTCTAGTTGGAACATCTAAACACAGAAGTCTGGGGTGTCAGGGAAGGTTTCTCAGAGGTCTTGTAACCTTGGCAAGTTATTTAGCCTCCCTATGTCATTTTCCTTATCTGTAAAGTGGGGATAATAATACTACCTTCCTCACAGGGTTGTTGTGAAGATGAAATGAGCTGACATATGGAAAGTACTTTTAGAGCAG... | TTTTTATATGCTACTATATTGTCTTGACTTTTACAATGAATATGTAGTACATTTCATAAAACTAAATTTAAAAATAGTATGTGCTAAGTGCTCCAATAAGTGAAGTTGGGAATTTTCTGGAAACTTCTAGTTGGAACATCTAAACACAGAAGTCTGGGGTGTCAGGGAAGGTTTCTCAGAGGTCTTGTAACCTTGGCAAGTTATTTAGCCTCCCTATGTCATTTTCCTTATCTGTAAAGTGGGGATAATAATACTACCTTCCTCACAGGGTTGTTGTGAAGATGAAATGAGCTGACATATGGAAAGTACTTTTAGAGCAG... | pathogenic | 189,091 |
Assess the variant on chromosome 11, position 119093134, impacting HMBS (hydroxymethylbilane synthase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic | CAGGGAAGGTTTCTCAGAGGTCTTGTAACCTTGGCAAGTTATTTAGCCTCCCTATGTCATTTTCCTTATCTGTAAAGTGGGGATAATAATACTACCTTCCTCACAGGGTTGTTGTGAAGATGAAATGAGCTGACATATGGAAAGTACTTTTAGAGCAGTGTCTGGCATGTAGTAAGTATGATGTAACTGTTAGCTGTTAACATTAAGCTGAGAGCTGGAAGATGACTGAAAGTCAGCCAGCTAGAGAGGGAAAGACAGACTCAGGCAGAGGGAACCGCACGAGGCCCCAGATTGCCCGACACTGTGGTCCTTAGCAACTC... | CAGGGAAGGTTTCTCAGAGGTCTTGTAACCTTGGCAAGTTATTTAGCCTCCCTATGTCATTTTCCTTATCTGTAAAGTGGGGATAATAATACTACCTTCCTCACAGGGTTGTTGTGAAGATGAAATGAGCTGACATATGGAAAGTACTTTTAGAGCAGTGTCTGGCATGTAGTAAGTATGATGTAACTGTTAGCTGTTAACATTAAGCTGAGAGCTGGAAGATGACTGAAAGTCAGCCAGCTAGAGAGGGAAAGACAGACTCAGGCAGAGGGAACCGCACGAGGCCCCAGATTGCCCGACACTGTGGTCCTTAGCAACTC... | pathogenic | 189,094 |
Does the variant impacting DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1) on chromosome 11, position 119098501, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CCACCCCTCCCAATCTACCCAAAAATGCCCATATAGGAAATATACCTACATAAACAATAAGAAAAAGACAACACTTTATTGTCTCCATTGAGAGCATGTGGCCCCCTGCTTAGTTCTTACTAATCAGAACACTTAATTTACAATCAAATGACATGTCACCGTGGAGCCTGTGTTCCTAGCCCTGGCCCAAGTTCTATCCCAAAAACCAGTGGTTCCTTGAGAGTCAGGACTCTGAAATGTGAGTGTGGATAACTGCAAAAAAAGCTGCTGTATCCCACCCTATGAGGCTGCAAAGATGGGATGGAGAGGGAGAGAGTAGC... | CCACCCCTCCCAATCTACCCAAAAATGCCCATATAGGAAATATACCTACATAAACAATAAGAAAAAGACAACACTTTATTGTCTCCATTGAGAGCATGTGGCCCCCTGCTTAGTTCTTACTAATCAGAACACTTAATTTACAATCAAATGACATGTCACCGTGGAGCCTGTGTTCCTAGCCCTGGCCCAAGTTCTATCCCAAAAACCAGTGGTTCCTTGAGAGTCAGGACTCTGAAATGTGAGTGTGGATAACTGCAAAAAAAGCTGCTGTATCCCACCCTATGAGGCTGCAAAGATGGGATGGAGAGGGAGAGAGTAGC... | benign | 189,109 |
Regarding the variant at chromosome 11 and position 119100730, affecting gene DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Congenital_disorder_of_glycosylation', 'Congenital_myasthenic_syndrome_13', 'DPAGT1-congenital_disorder_of_glycosylation', 'Inborn_genetic_diseases'] | TAGTTACTATCTTAAATTTGGTTTAGCCCATTCTGATGTAAGTTTGGATACCAACTTTACTTCTTAGCTTTGTGACCTTGATCTTGATCATGACACATTTAACTTCTCTAAGCCTGTTTTCTCATCTGTAAAACAGGGCTGATTATAACATCTGCCACATAAAACCATTACAAGATTTAAATAAGATAGTGTTTAAAAAGTACTTAGCTTTAATAAACACTTGTTGATGTTCATCAGCCAAAGACCATCAGAAACACATCTATAGTTCAAAGCTAGGTTTAATGACTTGTTGTAAAAAGGGAGACTTCAGAAACCACACA... | TAGTTACTATCTTAAATTTGGTTTAGCCCATTCTGATGTAAGTTTGGATACCAACTTTACTTCTTAGCTTTGTGACCTTGATCTTGATCATGACACATTTAACTTCTCTAAGCCTGTTTTCTCATCTGTAAAACAGGGCTGATTATAACATCTGCCACATAAAACCATTACAAGATTTAAATAAGATAGTGTTTAAAAAGTACTTAGCTTTAATAAACACTTGTTGATGTTCATCAGCCAAAGACCATCAGAAACACATCTATAGTTCAAAGCTAGGTTTAATGACTTGTTGTAAAAAGGGAGACTTCAGAAACCACACA... | pathogenic | 189,115 |
Mutation found at chromosome 11 position 119206522, gene CBL: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CCCAGCTACTCGGGGGGCAGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGACTCTGTCTCAAAATAAAATAAAATAAATAAATAAATAAAAAAGAAATAATTGTATTTGATGACTTGGTGAGTCAGCTAGCATAAGACATGTGTACCAGGGAGTAGTATAAAACTACAAGGTTGTTTAGCTTGGAGTTAGAGCAACTTGTCAATTTTATTCCCGAGGCAATGGGAGGTGTTTAAAGTTTTTTTGCGATGCTGTCTGAACTATACTTTAGGAAGCCTATGGTGGCAGGATGAATTGAAGGC... | CCCAGCTACTCGGGGGGCAGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGACTCTGTCTCAAAATAAAATAAAATAAATAAATAAATAAAAAAGAAATAATTGTATTTGATGACTTGGTGAGTCAGCTAGCATAAGACATGTGTACCAGGGAGTAGTATAAAACTACAAGGTTGTTTAGCTTGGAGTTAGAGCAACTTGTCAATTTTATTCCCGAGGCAATGGGAGGTGTTTAAAGTTTTTTTGCGATGCTGTCTGAACTATACTTTAGGAAGCCTATGGTGGCAGGATGAATTGAAGGC... | benign | 189,140 |
Clinical classification of chromosome 11, position 119206624, gene CBL (Cbl proto-oncogene): benign or pathogenic? Disease(s) if pathogenic? | benign | TAAATAAAAAAGAAATAATTGTATTTGATGACTTGGTGAGTCAGCTAGCATAAGACATGTGTACCAGGGAGTAGTATAAAACTACAAGGTTGTTTAGCTTGGAGTTAGAGCAACTTGTCAATTTTATTCCCGAGGCAATGGGAGGTGTTTAAAGTTTTTTTGCGATGCTGTCTGAACTATACTTTAGGAAGCCTATGGTGGCAGGATGAATTGAAGGCACAGGAAAAGGTTTCAATATTCAATAGTCCAGGGAAAAGAAACGGAGGACCTGCAACTAGGTGTTGGCACTAAGGGATGGAGCTTTGCCTAGATTTTCCCTT... | TAAATAAAAAAGAAATAATTGTATTTGATGACTTGGTGAGTCAGCTAGCATAAGACATGTGTACCAGGGAGTAGTATAAAACTACAAGGTTGTTTAGCTTGGAGTTAGAGCAACTTGTCAATTTTATTCCCGAGGCAATGGGAGGTGTTTAAAGTTTTTTTGCGATGCTGTCTGAACTATACTTTAGGAAGCCTATGGTGGCAGGATGAATTGAAGGCACAGGAAAAGGTTTCAATATTCAATAGTCCAGGGAAAAGAAACGGAGGACCTGCAACTAGGTGTTGGCACTAAGGGATGGAGCTTTGCCTAGATTTTCCCTT... | benign | 189,148 |
Clinically, how would you classify the variant at chromosome 11, position 119274995, gene CBL (Cbl proto-oncogene): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TATAAATATAAATATCCTAGGTTTTGTCGTTTTATTTTTTTTTTTTTTTGAGACAGGATGTCACTCTCTTGCCTAGTCTGGTGTGCAGTGGTACAATCAATCATAGCTCATCGCAGCCTCAAACTCTTGGATTCAAGCAGTTCTCCCAAGTAGCTGGGACTACACGTGTGTGCTGCCAGGCCCAGCTAATTTGCAGAGACAGGATTTTGCTGTGTTACCCAGGCTGGTCTCGAAGTCCTGGCCTCAAATAATCTTTCCCCCTGGCCTCTCAAAGTACTAGGATTACAAGCGTGAGCCACTGTGTTAGGCCCAAGTTTCTC... | TATAAATATAAATATCCTAGGTTTTGTCGTTTTATTTTTTTTTTTTTTTGAGACAGGATGTCACTCTCTTGCCTAGTCTGGTGTGCAGTGGTACAATCAATCATAGCTCATCGCAGCCTCAAACTCTTGGATTCAAGCAGTTCTCCCAAGTAGCTGGGACTACACGTGTGTGCTGCCAGGCCCAGCTAATTTGCAGAGACAGGATTTTGCTGTGTTACCCAGGCTGGTCTCGAAGTCCTGGCCTCAAATAATCTTTCCCCCTGGCCTCTCAAAGTACTAGGATTACAAGCGTGAGCCACTGTGTTAGGCCCAAGTTTCTC... | benign | 189,188 |
Considering the genetic mutation at chromosome 11, position 119275977, impacting CBL (Cbl proto-oncogene): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGGCTGGAGGCCATGGCTCTGAAATCCACTATTGATCTGACCTGCAATGATTATATTTCGGTTTTTGAATTTGACATCTTTACCCGACTCTTTCAGGTAGGACACTAAAAAAGTTGACTAAACTGGTTACTGCTACTTCGGTGAAGAGAAAGCTTTTTTTTTTTTTTTTTAAATAACATTTGGGGTTTTTGTCTGTATGAAAGTATTTTAATTCATTTTAGGAACTATGCCAAAAAAAAGATTAAAACTATCTCATATTAAAAATATATGTATGTGTGTGTATGTATATATAGTGAAAATGACAGCTATACCAACTGCTT... | GGGCTGGAGGCCATGGCTCTGAAATCCACTATTGATCTGACCTGCAATGATTATATTTCGGTTTTTGAATTTGACATCTTTACCCGACTCTTTCAGGTAGGACACTAAAAAAGTTGACTAAACTGGTTACTGCTACTTCGGTGAAGAGAAAGCTTTTTTTTTTTTTTTTTAAATAACATTTGGGGTTTTTGTCTGTATGAAAGTATTTTAATTCATTTTAGGAACTATGCCAAAAAAAAGATTAAAACTATCTCATATTAAAAATATATGTATGTGTGTGTATGTATATATAGTGAAAATGACAGCTATACCAACTGCTT... | benign | 189,190 |
Variant in gene CBL (Cbl proto-oncogene), located at chromosome 11 position 119278161: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['CBL-related_disorder', 'Noonan_syndrome', 'RASopathy'] | TTGATGGCTTCAGGGAAGGCTTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATT... | TTGATGGCTTCAGGGAAGGCTTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATT... | pathogenic | 189,205 |
A genetic variant at chromosome 11, position 119278316, affecting gene CBL (Cbl proto-oncogene)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTTTTGTTCAGCAGCATTTCTTCAGGCCTTGGGCTACTGTAACCTATGCT... | TTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTTTTGTTCAGCAGCATTTCTTCAGGCCTTGGGCTACTGTAACCTATGCT... | benign | 189,226 |
Located at chromosome 11 position 119278487, the variant affecting gene CBL (Cbl proto-oncogene)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AAATTTGACCAGTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTTTTGTTCAGCAGCATTTCTTCAGGCCTTGGGCTACTGTAACCTATGCTGCTATTTATAACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTT... | AAATTTGACCAGTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTTTTGTTCAGCAGCATTTCTTCAGGCCTTGGGCTACTGTAACCTATGCTGCTATTTATAACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTT... | benign | 189,227 |
Is the variant located on chromosome 11 at position 119278498, gene CBL (Cbl proto-oncogene), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTTTTGTTCAGCAGCATTTCTTCAGGCCTTGGGCTACTGTAACCTATGCTGCTATTTATAACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTTTACTTACAATA... | GTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTTTTGTTCAGCAGCATTTCTTCAGGCCTTGGGCTACTGTAACCTATGCTGCTATTTATAACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTTTACTTACAATA... | benign | 189,228 |
Variant chromosome 11, position 119278645, gene CBL (Cbl proto-oncogene): benign or pathogenic? Disease(s)? | benign | AACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTTTACTTACAATAGCATTGGGACTGAAAGGAGTGCTGCCCCAAATGTCAGAACAGTTTGATGCTAGAAACTGTGGATCTCCCTGGTAGATGATCTCAGTAGCTTAATTTGCATATTGTTACATTGCTTTTAAATTGGTGTCTCTCATTTTCTTAAACCTG... | AACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTTTACTTACAATAGCATTGGGACTGAAAGGAGTGCTGCCCCAAATGTCAGAACAGTTTGATGCTAGAAACTGTGGATCTCCCTGGTAGATGATCTCAGTAGCTTAATTTGCATATTGTTACATTGCTTTTAAATTGGTGTCTCTCATTTTCTTAAACCTG... | benign | 189,244 |
Is the genetic change at chromosome 11, position 119285172, within gene CBL (Cbl proto-oncogene) benign or pathogenic? Name the disease(s) if pathogenic. | benign | AGTAGAATGAAATGAAATATACAGGTATGAGAATCTTTTAGGGAAAAATCAGCAGGATATAGCTACTGACAAAATAATTATGATGAAGTGAGAGGAGGCTTGACTAGTAACTTTGACTTTTGTCATTGAGCTGTTTAGCTGCTCATGCTGCATTGTCAGCTAATTGGGAACCCGTTATCTTAAGCATGTGGATAAAGCAAAGAGTTAAAGATGAGAGCTTTTCTGTCATCCACCACCCAGCACTAATAACATGACTAAATATGGCTGTTTTTCTGTCAGTGTTGCTTTGCTGTTGGGGAATTTAAATGCAGAGTAGCATT... | AGTAGAATGAAATGAAATATACAGGTATGAGAATCTTTTAGGGAAAAATCAGCAGGATATAGCTACTGACAAAATAATTATGATGAAGTGAGAGGAGGCTTGACTAGTAACTTTGACTTTTGTCATTGAGCTGTTTAGCTGCTCATGCTGCATTGTCAGCTAATTGGGAACCCGTTATCTTAAGCATGTGGATAAAGCAAAGAGTTAAAGATGAGAGCTTTTCTGTCATCCACCACCCAGCACTAATAACATGACTAAATATGGCTGTTTTTCTGTCAGTGTTGCTTTGCTGTTGGGGAATTTAAATGCAGAGTAGCATT... | benign | 189,265 |
Does the variant on chromosome 11 at location 119297492 affecting gene CBL (Cbl proto-oncogene) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GGGTGGGGTGACTCAGGCCTGTAATCCTAGCATTTTGGGAGGCTGGGGCGGGAGGATCACTTGAACCCAAGAGTTTAAGACCAGCCTGGGCAACATAGTGAGACTCTGTCTCTACAAAAAAAAAAATTTTTTTTAATTAGCCTGGTATTGTGGCACATGTCTAGTCCCACCTACTGAGGAGGCTGAGTTGGGAGGATCACTTGAGCCCGGGAGATCAAGGCTGCAGTGGGTTGTCATCATGCCACTGTGCTCCAGCGAAAAATCTAGGTGTTTCTTTCTGAATATGGACTGTCCTCCCGCCATCTCATTTTATTGTGAAA... | GGGTGGGGTGACTCAGGCCTGTAATCCTAGCATTTTGGGAGGCTGGGGCGGGAGGATCACTTGAACCCAAGAGTTTAAGACCAGCCTGGGCAACATAGTGAGACTCTGTCTCTACAAAAAAAAAAATTTTTTTTAATTAGCCTGGTATTGTGGCACATGTCTAGTCCCACCTACTGAGGAGGCTGAGTTGGGAGGATCACTTGAGCCCGGGAGATCAAGGCTGCAGTGGGTTGTCATCATGCCACTGTGCTCCAGCGAAAAATCTAGGTGTTTCTTTCTGAATATGGACTGTCCTCCCGCCATCTCATTTTATTGTGAAA... | benign | 189,310 |
The mutation impacting CBL (Cbl proto-oncogene) on chromosome 11 at position 119298554: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CTTTTGACAAGCTATGCATTCCTTGAAACCATAGGTAGAGTTTAGAATTGGAATTTAGTTTACAGTTCTAACATTGTCAGAAAAAATCTTGCCGTTTCTCTAACTCTAGGGCCTGGGACTCTATAATGAAACTTCTGTGGGGGATTAGGACTAACCAGTATCTCAGGTGATTAGCCCAGTATATCACCTCTGAAGCATAAAAGCTGCACCTTTGGTCAGTTGAAAGTGACATTTTTAGTTAGTGTACTTTTGCTAATTACTTGTCTTGGTCAGCAGAAATAATAGTTCCCTAGGTGACATGTATTTTGCTCTGTTCAATT... | CTTTTGACAAGCTATGCATTCCTTGAAACCATAGGTAGAGTTTAGAATTGGAATTTAGTTTACAGTTCTAACATTGTCAGAAAAAATCTTGCCGTTTCTCTAACTCTAGGGCCTGGGACTCTATAATGAAACTTCTGTGGGGGATTAGGACTAACCAGTATCTCAGGTGATTAGCCCAGTATATCACCTCTGAAGCATAAAAGCTGCACCTTTGGTCAGTTGAAAGTGACATTTTTAGTTAGTGTACTTTTGCTAATTACTTGTCTTGGTCAGCAGAAATAATAGTTCCCTAGGTGACATGTATTTTGCTCTGTTCAATT... | benign | 189,327 |
Is chromosome 11, position 119300340, gene CBL (Cbl proto-oncogene) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CCGTATTGAAATGTATTAGAAGATGAAGTGCGTCAGAAGAAGATAACATCACTCATTTTTCTCCAGGTGAAGGGAATTTGGCCGCAGCCCATGCCAACACTGGTCCCGAGGAGTCAGAAAATGAGGATGATGGGTATGATGTCCCAAAGCCACCTGTGCCGGCCGTGCTGGCCCGCCGAACTCTCTCAGATATCTCTAATGCCAGCTCCTCCTTTGGCTGGTTGTCTCTGGATGGTGATCCTACAACAAGTGAGTCTCCAGACTACTTTGGGTTTGTCCTGAATGGCAGTGTGGCCTGTATGTTTATATTGAAAGGGAGA... | CCGTATTGAAATGTATTAGAAGATGAAGTGCGTCAGAAGAAGATAACATCACTCATTTTTCTCCAGGTGAAGGGAATTTGGCCGCAGCCCATGCCAACACTGGTCCCGAGGAGTCAGAAAATGAGGATGATGGGTATGATGTCCCAAAGCCACCTGTGCCGGCCGTGCTGGCCCGCCGAACTCTCTCAGATATCTCTAATGCCAGCTCCTCCTTTGGCTGGTTGTCTCTGGATGGTGATCCTACAACAAGTGAGTCTCCAGACTACTTTGGGTTTGTCCTGAATGGCAGTGTGGCCTGTATGTTTATATTGAAAGGGAGA... | benign | 189,347 |
Assess the variant on chromosome 11, position 119300341, impacting CBL (Cbl proto-oncogene): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CGTATTGAAATGTATTAGAAGATGAAGTGCGTCAGAAGAAGATAACATCACTCATTTTTCTCCAGGTGAAGGGAATTTGGCCGCAGCCCATGCCAACACTGGTCCCGAGGAGTCAGAAAATGAGGATGATGGGTATGATGTCCCAAAGCCACCTGTGCCGGCCGTGCTGGCCCGCCGAACTCTCTCAGATATCTCTAATGCCAGCTCCTCCTTTGGCTGGTTGTCTCTGGATGGTGATCCTACAACAAGTGAGTCTCCAGACTACTTTGGGTTTGTCCTGAATGGCAGTGTGGCCTGTATGTTTATATTGAAAGGGAGAT... | CGTATTGAAATGTATTAGAAGATGAAGTGCGTCAGAAGAAGATAACATCACTCATTTTTCTCCAGGTGAAGGGAATTTGGCCGCAGCCCATGCCAACACTGGTCCCGAGGAGTCAGAAAATGAGGATGATGGGTATGATGTCCCAAAGCCACCTGTGCCGGCCGTGCTGGCCCGCCGAACTCTCTCAGATATCTCTAATGCCAGCTCCTCCTTTGGCTGGTTGTCTCTGGATGGTGATCCTACAACAAGTGAGTCTCCAGACTACTTTGGGTTTGTCCTGAATGGCAGTGTGGCCTGTATGTTTATATTGAAAGGGAGAT... | benign | 189,348 |
A mutation at chromosome position 119307357 on chromosome 11 in gene CBL (Cbl proto-oncogene): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GCCTGTTCCTGGGTAGCCTTCCTTAGCCTCCATTCAGCCTCAGGTCTTTTGCCTTCTTCCGTGTTTATTTAGAGAGCAGAATCTAATAACGGGTTCCACTGTAGCCACTATCCATGGACTTCTGGGTCCTCTTCAGGTTTGAGTGCTTGAAAATGTTCATTCTCTGGGCTTGTGGCCTGTCTCCTCCACTCTCCTCCTCACCCTCTCGCTCCTTCCTGTGTGAGGGCCGCTCTGCAGTAATGTTCTCAGGCAAGCCTTCCTAGGCACCTCAGAAACTACTTTGCCAGAGCCAGTAAGAATATATAATATTGGAGCAGTTG... | GCCTGTTCCTGGGTAGCCTTCCTTAGCCTCCATTCAGCCTCAGGTCTTTTGCCTTCTTCCGTGTTTATTTAGAGAGCAGAATCTAATAACGGGTTCCACTGTAGCCACTATCCATGGACTTCTGGGTCCTCTTCAGGTTTGAGTGCTTGAAAATGTTCATTCTCTGGGCTTGTGGCCTGTCTCCTCCACTCTCCTCCTCACCCTCTCGCTCCTTCCTGTGTGAGGGCCGCTCTGCAGTAATGTTCTCAGGCAAGCCTTCCTAGGCACCTCAGAAACTACTTTGCCAGAGCCAGTAAGAATATATAATATTGGAGCAGTTG... | benign | 189,365 |
Variant on chromosome 11, at position 119339479, affecting MFRP: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GGGGGGACAGGGAAGGAGCTAAGATAGGCTGGGAAGACTATGTCATGGGGAGAGTGCATGCCAGGCATGGCTCTGTGAGCTCTCATCCCTTCTGATTTGTCCCCTCTCGCAACACATGGCTTTCGAAAAGCCTTCTATTTTTTCTGTTTTTTCCCAAATTAAGCCCTTGTAGAGAGGAATGTGAACCATCTCACCCCTTGAGTCAACCTTCCCAGCTCCTCCTCCGGGCCAGTCTTCCTGGGAGGGAGCATGGGGTTCCTCCTGCCTGGAGTCCAGTCTGCCCTCGGATCCCAGGAGGAGCTGGTGTGTGTCTCTGTGTG... | GGGGGGACAGGGAAGGAGCTAAGATAGGCTGGGAAGACTATGTCATGGGGAGAGTGCATGCCAGGCATGGCTCTGTGAGCTCTCATCCCTTCTGATTTGTCCCCTCTCGCAACACATGGCTTTCGAAAAGCCTTCTATTTTTTCTGTTTTTTCCCAAATTAAGCCCTTGTAGAGAGGAATGTGAACCATCTCACCCCTTGAGTCAACCTTCCCAGCTCCTCCTCCGGGCCAGTCTTCCTGGGAGGGAGCATGGGGTTCCTCCTGCCTGGAGTCCAGTCTGCCCTCGGATCCCAGGAGGAGCTGGTGTGTGTCTCTGTGTG... | benign | 189,371 |
Is the chromosome 11, position 119343848 variant in MFRP clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Isolated_microphthalmia_5', 'Nanophthalmos_2'] | CCTGCTCCCAGGCTCCTCCCCTCCCAGGCCCGCCCTCCTTCCCTCCACCCAGAAGACCTTGTAACCGCTGAGGACCTCTACCACCTCCTCCTGGGTGATCATGCCCACCCAGATGTTAGGGAAGGCTGTGGTGTTGTAGCTCAGACCGAGGCACATCTCCACCTGGACAGGCTCACAGGCCAGCTCTGCAGGGGTGGAGGGGAGGGCCACTGTGGGGACTGCTCACTGGCTCTGTGGCCTGTGGCAAGTCACCGAATCGCTCGGTCCTGTGTGTACATGGGTCCAATGGGGGTGGTTGTGAGGAAGCAAGAGGATAACAA... | CCTGCTCCCAGGCTCCTCCCCTCCCAGGCCCGCCCTCCTTCCCTCCACCCAGAAGACCTTGTAACCGCTGAGGACCTCTACCACCTCCTCCTGGGTGATCATGCCCACCCAGATGTTAGGGAAGGCTGTGGTGTTGTAGCTCAGACCGAGGCACATCTCCACCTGGACAGGCTCACAGGCCAGCTCTGCAGGGGTGGAGGGGAGGGCCACTGTGGGGACTGCTCACTGGCTCTGTGGCCTGTGGCAAGTCACCGAATCGCTCGGTCCTGTGTGTACATGGGTCCAATGGGGGTGGTTGTGAGGAAGCAAGAGGATAACAA... | pathogenic | 189,383 |
Determine if the mutation at chromosome 11, position 119344979 in gene MFRP is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Isolated_microphthalmia_5', 'Nanophthalmos_2'] | ATCTGTCCTAAACAGCACAGCCAGCTCATGGTGCGAGGAGACGAGGTGGGGGGGTGGCTCTGCTCCACAGAACCTGCCCAAAGCAGACAGCTGTTCTGGGCACCAGCCCTGGCTGACTGAGGGGGCACTGCAGCCTCCCACAGGCCTGGCTCTGAGCTGGGAGCCCTGGATGATGCCAAAGGTGATGGAAGACACAGGGTTAGGGTCTGGCGAGAAAGACACATATATTCAACAGGGAAAGCATTAAACAAACTGTCTGAACTCGAGCCACTTCTAGATGGGGAAAAATCAGCGAAGCAGCCTGGCATTGTGGCTCACAC... | ATCTGTCCTAAACAGCACAGCCAGCTCATGGTGCGAGGAGACGAGGTGGGGGGGTGGCTCTGCTCCACAGAACCTGCCCAAAGCAGACAGCTGTTCTGGGCACCAGCCCTGGCTGACTGAGGGGGCACTGCAGCCTCCCACAGGCCTGGCTCTGAGCTGGGAGCCCTGGATGATGCCAAAGGTGATGGAAGACACAGGGTTAGGGTCTGGCGAGAAAGACACATATATTCAACAGGGAAAGCATTAAACAAACTGTCTGAACTCGAGCCACTTCTAGATGGGGAAAAATCAGCGAAGCAGCCTGGCATTGTGGCTCACAC... | pathogenic | 189,397 |
Is the chromosome 11, position 119344983 variant in MFRP clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Isolated_microphthalmia_5'] | GTCCTAAACAGCACAGCCAGCTCATGGTGCGAGGAGACGAGGTGGGGGGGTGGCTCTGCTCCACAGAACCTGCCCAAAGCAGACAGCTGTTCTGGGCACCAGCCCTGGCTGACTGAGGGGGCACTGCAGCCTCCCACAGGCCTGGCTCTGAGCTGGGAGCCCTGGATGATGCCAAAGGTGATGGAAGACACAGGGTTAGGGTCTGGCGAGAAAGACACATATATTCAACAGGGAAAGCATTAAACAAACTGTCTGAACTCGAGCCACTTCTAGATGGGGAAAAATCAGCGAAGCAGCCTGGCATTGTGGCTCACACCTGT... | GTCCTAAACAGCACAGCCAGCTCATGGTGCGAGGAGACGAGGTGGGGGGGTGGCTCTGCTCCACAGAACCTGCCCAAAGCAGACAGCTGTTCTGGGCACCAGCCCTGGCTGACTGAGGGGGCACTGCAGCCTCCCACAGGCCTGGCTCTGAGCTGGGAGCCCTGGATGATGCCAAAGGTGATGGAAGACACAGGGTTAGGGTCTGGCGAGAAAGACACATATATTCAACAGGGAAAGCATTAAACAAACTGTCTGAACTCGAGCCACTTCTAGATGGGGAAAAATCAGCGAAGCAGCCTGGCATTGTGGCTCACACCTGT... | pathogenic | 189,398 |
Variant at chromosome position 119345562, chromosome 11, gene MFRP: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Isolated_microphthalmia_5', 'Retinal_dystrophy'] | CTCAAAAAAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTTATCCATGGCTCTTCCCTGGCTCCTGTACCTGCCCAGGAGGCTGAAG... | CTCAAAAAAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTTATCCATGGCTCTTCCCTGGCTCCTGTACCTGCCCAGGAGGCTGAAG... | pathogenic | 189,405 |
Is the genetic change at chromosome 11, position 119345562, within gene MFRP benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Isolated_microphthalmia_5', 'MFRP-related_disorder', 'Nanophthalmos_2', 'Retinal_dystrophy'] | CTCAAAAAAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTTATCCATGGCTCTTCCCTGGCTCCTGTACCTGCCCAGGAGGCTGAAG... | CTCAAAAAAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTTATCCATGGCTCTTCCCTGGCTCCTGTACCTGCCCAGGAGGCTGAAG... | pathogenic | 189,406 |
Is the chromosome 11, position 119345569 variant in MFRP clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Isolated_microphthalmia_5', 'Nanophthalmos_2', 'Retinal_dystrophy'] | AAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTTATCCATGGCTCTTCCCTGGCTCCTGTACCTGCCCAGGAGGCTGAAGGCCCCTG... | AAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTTATCCATGGCTCTTCCCTGGCTCCTGTACCTGCCCAGGAGGCTGAAGGCCCCTG... | pathogenic | 189,408 |
Classify the chromosome 11 variant at position 119345901 affecting gene MFRP as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Isolated_microphthalmia_5'] | CATACACCTCCACGTAGTCAAACTTGCACTCGTCCTGAGCCTCCAGGCTGAAGTTGTGGAACTGTAGTTCTATGCTGTGTCCGGCAGGCACCGAGATATGCCAGGTGCAGAGCTGGGGGAGGGCATAGGTGGAGCAATTCATGGCCCCTTCTCCTGTCTCATCCCGGGCACCCAGAAGGGTCTTCTTCCCCCACTGCTGGCTGGGGGGATGGGGTGGTGCTTTCATCATTGGTGGTTCTTAAGGACCTTTAATTTACCTGGTTTCAGAGGTGAGTTGACCCAGTGTGGGAACATCTGGGTACACAGCAGGCACTTAATAA... | CATACACCTCCACGTAGTCAAACTTGCACTCGTCCTGAGCCTCCAGGCTGAAGTTGTGGAACTGTAGTTCTATGCTGTGTCCGGCAGGCACCGAGATATGCCAGGTGCAGAGCTGGGGGAGGGCATAGGTGGAGCAATTCATGGCCCCTTCTCCTGTCTCATCCCGGGCACCCAGAAGGGTCTTCTTCCCCCACTGCTGGCTGGGGGGATGGGGTGGTGCTTTCATCATTGGTGGTTCTTAAGGACCTTTAATTTACCTGGTTTCAGAGGTGAGTTGACCCAGTGTGGGAACATCTGGGTACACAGCAGGCACTTAATAA... | pathogenic | 189,412 |
Does the variant on chromosome 11 at location 119346388 affecting gene MFRP have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TAGCTGGGAGTAGAGAAAGTGCCCTGGAGGCCAGTCAGATTCCCCCCACACCCTGTAGAGAGGTGGAAGGGCTCATGAGTTTGCTAGGATCTGTGCCTCCATCCAATAGGGCTGGCGGTGATTACAGAGCGAGAGTTTTGGCCATGCCCATGGGAAACAAGTTCTGGGCCAAAGAATGACTGAGCAGGAAATGCTGACGGAGGGCCCGGTTTGAGGCTGGACCAGAGCTGGGGAGCCCAGCTTGAACCCAGATCAGACGCCTGAAGAGAGGACCCCCATGCCTGGCCCGTACCCGAGAACTTGGCACTGCAATTGGTCTC... | TAGCTGGGAGTAGAGAAAGTGCCCTGGAGGCCAGTCAGATTCCCCCCACACCCTGTAGAGAGGTGGAAGGGCTCATGAGTTTGCTAGGATCTGTGCCTCCATCCAATAGGGCTGGCGGTGATTACAGAGCGAGAGTTTTGGCCATGCCCATGGGAAACAAGTTCTGGGCCAAAGAATGACTGAGCAGGAAATGCTGACGGAGGGCCCGGTTTGAGGCTGGACCAGAGCTGGGGAGCCCAGCTTGAACCCAGATCAGACGCCTGAAGAGAGGACCCCCATGCCTGGCCCGTACCCGAGAACTTGGCACTGCAATTGGTCTC... | benign | 189,416 |
Clinical classification of chromosome 11, position 121105867, gene TECTA: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_12', 'Autosomal_recessive_nonsyndromic_hearing_loss_21'] | ATATTAGATATTCTTAATGTTTGTATCCTTCTTAAAATTAAAAATATTTAACAGTCCGTTCTTTCCTATTCAAAATTGTGAACTAATTAGGATCACCCACGAAGAGAAGAATCTTGCAAACTGCCTCACCTTTGCAGCAGAAGAGGAAGTTAGGGTCATTCTCCCTGGCCATGGTTTTCCGTCTCCTCCATGCGGTATTATGGGTTTTCCATTCCCTAGGCAGATTGGCCAATCAGTGCAGCCCAAAATACCAATTAATCTTTCCATACAGATGATGATAATTCAGTGTGAATTTGAGCCCTCATTCATACTTGGGCATG... | ATATTAGATATTCTTAATGTTTGTATCCTTCTTAAAATTAAAAATATTTAACAGTCCGTTCTTTCCTATTCAAAATTGTGAACTAATTAGGATCACCCACGAAGAGAAGAATCTTGCAAACTGCCTCACCTTTGCAGCAGAAGAGGAAGTTAGGGTCATTCTCCCTGGCCATGGTTTTCCGTCTCCTCCATGCGGTATTATGGGTTTTCCATTCCCTAGGCAGATTGGCCAATCAGTGCAGCCCAAAATACCAATTAATCTTTCCATACAGATGATGATAATTCAGTGTGAATTTGAGCCCTCATTCATACTTGGGCATG... | pathogenic | 189,452 |
Does the chromosome 11 mutation at position 121113180 within gene TECTA classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic | GAAGGAAAACTAATATTTACTGAGGGTTTACTATGTGTCTGGTGCTGAAGGCTATTTTTGCATATCATTTAACCCTCCCCAAAATGTTCCCGGACAAGTACTGTCTCCAATTTCAAGGGAAGGGAACAGGCCGGGAGAGGCCAAGTATCTCGTTCAAGTGGCAAGAAAAAGAATAGGATTCAAATCTCCTAGGAGACAGAGCAGGGTTCAAACCAAAGTCTTCCAACTCCAAATCCCAGACTCTTCTTTCTTCAGCTGCCTCCTGCGGGTATTGCTGAAGTCCTCAGAAGCAAAAAAGATTTTTTTATCCAGAAGAGTCT... | GAAGGAAAACTAATATTTACTGAGGGTTTACTATGTGTCTGGTGCTGAAGGCTATTTTTGCATATCATTTAACCCTCCCCAAAATGTTCCCGGACAAGTACTGTCTCCAATTTCAAGGGAAGGGAACAGGCCGGGAGAGGCCAAGTATCTCGTTCAAGTGGCAAGAAAAAGAATAGGATTCAAATCTCCTAGGAGACAGAGCAGGGTTCAAACCAAAGTCTTCCAACTCCAAATCCCAGACTCTTCTTTCTTCAGCTGCCTCCTGCGGGTATTGCTGAAGTCCTCAGAAGCAAAAAAGATTTTTTTATCCAGAAGAGTCT... | pathogenic | 189,459 |
Mutation at chromosome 11, position 121118643, within TECTA: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic | AGACTGCTATGCATTTTTATGTGCCTCCGGACATATATCAATCTAATGAGACTGGGATTTGGCCTGGGGTATAGCAGGGGAAGTGTTCTGTAGAGCTGGTTTATTATATCATCATTCCACAAACAAAATTATCTCAAAGAGTCTACCTTTTGGTCCAAACCTCCTCTATTCAAAGGCATTTTCCTCTCACTTATTGAAAGCCTGAAAAAGCAGGGCCTGGAAATGATGCTGAGTGGAGGCTGTCACAATACATACAGCCCTGAACTAGTGCCAAGGAGTGCTGAGGATTAGGACCTGTTTTCAGGGCTGATGCACATGAC... | AGACTGCTATGCATTTTTATGTGCCTCCGGACATATATCAATCTAATGAGACTGGGATTTGGCCTGGGGTATAGCAGGGGAAGTGTTCTGTAGAGCTGGTTTATTATATCATCATTCCACAAACAAAATTATCTCAAAGAGTCTACCTTTTGGTCCAAACCTCCTCTATTCAAAGGCATTTTCCTCTCACTTATTGAAAGCCTGAAAAAGCAGGGCCTGGAAATGATGCTGAGTGGAGGCTGTCACAATACATACAGCCCTGAACTAGTGCCAAGGAGTGCTGAGGATTAGGACCTGTTTTCAGGGCTGATGCACATGAC... | pathogenic | 189,468 |
Variant chromosome 11, position 121128317, gene TECTA: benign or pathogenic? Disease(s)? | pathogenic | CACATGGAACCTGTAGCAATTGTTCCTGGCACTTTCTTCTCCACTGTCAGACCCTTAAGGGTTTGTGCCCTGCTGCTGCTGCAGATGAGGAGTACAGCATATGAGTAAAGAAGCCCTTTTTCTTAAATATTAGGAGTGGTTAGGAAAAGCCCCAACTTTGAGGGAAATCCTGGCTCTTTTGAATTACACTTTTGGATTAAGCATTTTGTACCATTTAATTGTCTTAGTACTTTTTCCCTGTATCCCACTTAAAATTTATTTCTTTTTCTAGTTATACACAGTTTAAAAACAAATAGATTTCGTTTCCTTCCTAGTCCTTG... | CACATGGAACCTGTAGCAATTGTTCCTGGCACTTTCTTCTCCACTGTCAGACCCTTAAGGGTTTGTGCCCTGCTGCTGCTGCAGATGAGGAGTACAGCATATGAGTAAAGAAGCCCTTTTTCTTAAATATTAGGAGTGGTTAGGAAAAGCCCCAACTTTGAGGGAAATCCTGGCTCTTTTGAATTACACTTTTGGATTAAGCATTTTGTACCATTTAATTGTCTTAGTACTTTTTCCCTGTATCCCACTTAAAATTTATTTCTTTTTCTAGTTATACACAGTTTAAAAACAAATAGATTTCGTTTCCTTCCTAGTCCTTG... | pathogenic | 189,489 |
A genetic variant at chromosome 11, position 121128334, affecting gene TECTA—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hearing_impairment'] | AATTGTTCCTGGCACTTTCTTCTCCACTGTCAGACCCTTAAGGGTTTGTGCCCTGCTGCTGCTGCAGATGAGGAGTACAGCATATGAGTAAAGAAGCCCTTTTTCTTAAATATTAGGAGTGGTTAGGAAAAGCCCCAACTTTGAGGGAAATCCTGGCTCTTTTGAATTACACTTTTGGATTAAGCATTTTGTACCATTTAATTGTCTTAGTACTTTTTCCCTGTATCCCACTTAAAATTTATTTCTTTTTCTAGTTATACACAGTTTAAAAACAAATAGATTTCGTTTCCTTCCTAGTCCTTGGTTTTCTCCATATGAGT... | AATTGTTCCTGGCACTTTCTTCTCCACTGTCAGACCCTTAAGGGTTTGTGCCCTGCTGCTGCTGCAGATGAGGAGTACAGCATATGAGTAAAGAAGCCCTTTTTCTTAAATATTAGGAGTGGTTAGGAAAAGCCCCAACTTTGAGGGAAATCCTGGCTCTTTTGAATTACACTTTTGGATTAAGCATTTTGTACCATTTAATTGTCTTAGTACTTTTTCCCTGTATCCCACTTAAAATTTATTTCTTTTTCTAGTTATACACAGTTTAAAAACAAATAGATTTCGTTTCCTTCCTAGTCCTTGGTTTTCTCCATATGAGT... | pathogenic | 189,490 |
Benign or pathogenic: chromosome 11, position 121130051, gene TECTA variant? Disease(s) if pathogenic? | pathogenic; ['Hearing_impairment'] | CTGTGCGAGGAGGGCGGGGACGTCTACTGCTTCAACAAGACCTGCGGCAGCGGGGAGGTGTGCGCCGTGGAGGACGGCTACCAGGGCTGCTTCCCCAAGCGGGAGACCGTGTGCCTGCTCAGCCAGAACCAGGTGCTGCACACCTTTGACGGCGCCTCCTACGCCTTCCCCTCCGAGTTCTCCTACACCCTCCTGAAGACCTGCCCTGAGCGCCCAGAGTACTTGGAAATCGACATCAACAAGAAGAAGCCCGATGCAGGACCTGCTTGGCTGCGGGGACTTCGGATCCTGGTGGCCGACCAGGAGGTCAAGATAGGAGG... | CTGTGCGAGGAGGGCGGGGACGTCTACTGCTTCAACAAGACCTGCGGCAGCGGGGAGGTGTGCGCCGTGGAGGACGGCTACCAGGGCTGCTTCCCCAAGCGGGAGACCGTGTGCCTGCTCAGCCAGAACCAGGTGCTGCACACCTTTGACGGCGCCTCCTACGCCTTCCCCTCCGAGTTCTCCTACACCCTCCTGAAGACCTGCCCTGAGCGCCCAGAGTACTTGGAAATCGACATCAACAAGAAGAAGCCCGATGCAGGACCTGCTTGGCTGCGGGGACTTCGGATCCTGGTGGCCGACCAGGAGGTCAAGATAGGAGG... | pathogenic | 189,498 |
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