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 |
|---|---|---|---|---|---|
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 31184371, gene FUS (FUS RNA binding protein). What disease(s) is it linked to if pathogenic? | benign | TTAAGGAATTTAGCTTTAATTCAACTCTTTCAGAGTGGCAGCTGAAGATAATGTGATTGTATTTTTCTTTTGCAGATTATACCCAACAAGCAACCCAAAGGTGAGTGCTATTTTTGGGCTTCCAGAGTTTGTAGAGGGCAAGGGTGGTCACGCCATGTTTTCTGATCACGCTGGTTTTCCTTTTATTTAGCTATGGGGCCTACCCCACCCAGCCCGGGCAGGGCTATTCCCAGCAGAGCAGTCAGCCCTACGGACAGCAGAGTTACAGTGGTTATAGCCAGTCCACGGACACTTCAGGCTATGGCCAGAGCAGCTATTCT... | TTAAGGAATTTAGCTTTAATTCAACTCTTTCAGAGTGGCAGCTGAAGATAATGTGATTGTATTTTTCTTTTGCAGATTATACCCAACAAGCAACCCAAAGGTGAGTGCTATTTTTGGGCTTCCAGAGTTTGTAGAGGGCAAGGGTGGTCACGCCATGTTTTCTGATCACGCTGGTTTTCCTTTTATTTAGCTATGGGGCCTACCCCACCCAGCCCGGGCAGGGCTATTCCCAGCAGAGCAGTCAGCCCTACGGACAGCAGAGTTACAGTGGTTATAGCCAGTCCACGGACACTTCAGGCTATGGCCAGAGCAGCTATTCT... | benign | 251,098 |
Evaluate the clinical significance of the mutation at chromosome 16, position 31184371 in gene FUS (FUS RNA binding protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TTAAGGAATTTAGCTTTAATTCAACTCTTTCAGAGTGGCAGCTGAAGATAATGTGATTGTATTTTTCTTTTGCAGATTATACCCAACAAGCAACCCAAAGGTGAGTGCTATTTTTGGGCTTCCAGAGTTTGTAGAGGGCAAGGGTGGTCACGCCATGTTTTCTGATCACGCTGGTTTTCCTTTTATTTAGCTATGGGGCCTACCCCACCCAGCCCGGGCAGGGCTATTCCCAGCAGAGCAGTCAGCCCTACGGACAGCAGAGTTACAGTGGTTATAGCCAGTCCACGGACACTTCAGGCTATGGCCAGAGCAGCTATTCT... | TTAAGGAATTTAGCTTTAATTCAACTCTTTCAGAGTGGCAGCTGAAGATAATGTGATTGTATTTTTCTTTTGCAGATTATACCCAACAAGCAACCCAAAGGTGAGTGCTATTTTTGGGCTTCCAGAGTTTGTAGAGGGCAAGGGTGGTCACGCCATGTTTTCTGATCACGCTGGTTTTCCTTTTATTTAGCTATGGGGCCTACCCCACCCAGCCCGGGCAGGGCTATTCCCAGCAGAGCAGTCAGCCCTACGGACAGCAGAGTTACAGTGGTTATAGCCAGTCCACGGACACTTCAGGCTATGGCCAGAGCAGCTATTCT... | benign | 251,099 |
The mutation in gene FUS (FUS RNA binding protein) at chromosome 16, position 31184923—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCTGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCACCGTGTTGGACAGGCTGGTCTGGAACTCCTGACCTCCTGCCTGCCTTGACCTGCCAAAGTGCTGGGATTACAGGCGTCAGCCACAATGCCCTGAATGTTGCTTTTCTTAAACCTGAGCAGCACTGAGATGTTGAAACTGTTCCATATTTCTTTTCCGTGAAACAGTGTATAAGTCTTAAAACTTTTTGGGATCTGAGTCCTTTACAGGGCATTGTGGCACACCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCGGGAGGATCCCTTGAATTCAGGAGTTTG... | CCTGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCACCGTGTTGGACAGGCTGGTCTGGAACTCCTGACCTCCTGCCTGCCTTGACCTGCCAAAGTGCTGGGATTACAGGCGTCAGCCACAATGCCCTGAATGTTGCTTTTCTTAAACCTGAGCAGCACTGAGATGTTGAAACTGTTCCATATTTCTTTTCCGTGAAACAGTGTATAAGTCTTAAAACTTTTTGGGATCTGAGTCCTTTACAGGGCATTGTGGCACACCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCGGGAGGATCCCTTGAATTCAGGAGTTTG... | benign | 251,102 |
Does the variant impacting FUS (FUS RNA binding protein) on chromosome 16, position 31185081, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GCACTGAGATGTTGAAACTGTTCCATATTTCTTTTCCGTGAAACAGTGTATAAGTCTTAAAACTTTTTGGGATCTGAGTCCTTTACAGGGCATTGTGGCACACCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCGGGAGGATCCCTTGAATTCAGGAGTTTGGGGCTGCAGTGAGCTATGATGGTGCCTGTGAACAGCCACTGCATTCCAGCCTGGGCAGTGTGTTGAGGCCCCATCTCAAAAACATAAAAAAAAAAACAAAAAACAAAAATGTTTATTGGTTTGTGATTCTGTTTCCATTTATTTTCTTTGGCTTTTAA... | GCACTGAGATGTTGAAACTGTTCCATATTTCTTTTCCGTGAAACAGTGTATAAGTCTTAAAACTTTTTGGGATCTGAGTCCTTTACAGGGCATTGTGGCACACCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCGGGAGGATCCCTTGAATTCAGGAGTTTGGGGCTGCAGTGAGCTATGATGGTGCCTGTGAACAGCCACTGCATTCCAGCCTGGGCAGTGTGTTGAGGCCCCATCTCAAAAACATAAAAAAAAAAACAAAAAACAAAAATGTTTATTGGTTTGTGATTCTGTTTCCATTTATTTTCTTTGGCTTTTAA... | benign | 251,106 |
Is the genetic change at chromosome 16, position 31185081, within gene FUS (FUS RNA binding protein) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GCACTGAGATGTTGAAACTGTTCCATATTTCTTTTCCGTGAAACAGTGTATAAGTCTTAAAACTTTTTGGGATCTGAGTCCTTTACAGGGCATTGTGGCACACCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCGGGAGGATCCCTTGAATTCAGGAGTTTGGGGCTGCAGTGAGCTATGATGGTGCCTGTGAACAGCCACTGCATTCCAGCCTGGGCAGTGTGTTGAGGCCCCATCTCAAAAACATAAAAAAAAAAACAAAAAACAAAAATGTTTATTGGTTTGTGATTCTGTTTCCATTTATTTTCTTTGGCTTTTAA... | GCACTGAGATGTTGAAACTGTTCCATATTTCTTTTCCGTGAAACAGTGTATAAGTCTTAAAACTTTTTGGGATCTGAGTCCTTTACAGGGCATTGTGGCACACCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCGGGAGGATCCCTTGAATTCAGGAGTTTGGGGCTGCAGTGAGCTATGATGGTGCCTGTGAACAGCCACTGCATTCCAGCCTGGGCAGTGTGTTGAGGCCCCATCTCAAAAACATAAAAAAAAAAACAAAAAACAAAAATGTTTATTGGTTTGTGATTCTGTTTCCATTTATTTTCTTTGGCTTTTAA... | benign | 251,107 |
For chromosome 16, position 31185081, gene FUS (FUS RNA binding protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GCACTGAGATGTTGAAACTGTTCCATATTTCTTTTCCGTGAAACAGTGTATAAGTCTTAAAACTTTTTGGGATCTGAGTCCTTTACAGGGCATTGTGGCACACCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCGGGAGGATCCCTTGAATTCAGGAGTTTGGGGCTGCAGTGAGCTATGATGGTGCCTGTGAACAGCCACTGCATTCCAGCCTGGGCAGTGTGTTGAGGCCCCATCTCAAAAACATAAAAAAAAAAACAAAAAACAAAAATGTTTATTGGTTTGTGATTCTGTTTCCATTTATTTTCTTTGGCTTTTAA... | GCACTGAGATGTTGAAACTGTTCCATATTTCTTTTCCGTGAAACAGTGTATAAGTCTTAAAACTTTTTGGGATCTGAGTCCTTTACAGGGCATTGTGGCACACCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCGGGAGGATCCCTTGAATTCAGGAGTTTGGGGCTGCAGTGAGCTATGATGGTGCCTGTGAACAGCCACTGCATTCCAGCCTGGGCAGTGTGTTGAGGCCCCATCTCAAAAACATAAAAAAAAAAACAAAAAACAAAAATGTTTATTGGTTTGTGATTCTGTTTCCATTTATTTTCTTTGGCTTTTAA... | benign | 251,108 |
Variant on chromosome 16, at position 31185093, affecting FUS (FUS RNA binding protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGAAACTGTTCCATATTTCTTTTCCGTGAAACAGTGTATAAGTCTTAAAACTTTTTGGGATCTGAGTCCTTTACAGGGCATTGTGGCACACCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCGGGAGGATCCCTTGAATTCAGGAGTTTGGGGCTGCAGTGAGCTATGATGGTGCCTGTGAACAGCCACTGCATTCCAGCCTGGGCAGTGTGTTGAGGCCCCATCTCAAAAACATAAAAAAAAAAACAAAAAACAAAAATGTTTATTGGTTTGTGATTCTGTTTCCATTTATTTTCTTTGGCTTTTAATTTTTTTGACTC... | TGAAACTGTTCCATATTTCTTTTCCGTGAAACAGTGTATAAGTCTTAAAACTTTTTGGGATCTGAGTCCTTTACAGGGCATTGTGGCACACCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCGGGAGGATCCCTTGAATTCAGGAGTTTGGGGCTGCAGTGAGCTATGATGGTGCCTGTGAACAGCCACTGCATTCCAGCCTGGGCAGTGTGTTGAGGCCCCATCTCAAAAACATAAAAAAAAAAACAAAAAACAAAAATGTTTATTGGTTTGTGATTCTGTTTCCATTTATTTTCTTTGGCTTTTAATTTTTTTGACTC... | benign | 251,112 |
Considering the genetic mutation at chromosome 16, position 31185099, impacting FUS (FUS RNA binding protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TGTTCCATATTTCTTTTCCGTGAAACAGTGTATAAGTCTTAAAACTTTTTGGGATCTGAGTCCTTTACAGGGCATTGTGGCACACCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCGGGAGGATCCCTTGAATTCAGGAGTTTGGGGCTGCAGTGAGCTATGATGGTGCCTGTGAACAGCCACTGCATTCCAGCCTGGGCAGTGTGTTGAGGCCCCATCTCAAAAACATAAAAAAAAAAACAAAAAACAAAAATGTTTATTGGTTTGTGATTCTGTTTCCATTTATTTTCTTTGGCTTTTAATTTTTTTGACTCTTCTTA... | TGTTCCATATTTCTTTTCCGTGAAACAGTGTATAAGTCTTAAAACTTTTTGGGATCTGAGTCCTTTACAGGGCATTGTGGCACACCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCGGGAGGATCCCTTGAATTCAGGAGTTTGGGGCTGCAGTGAGCTATGATGGTGCCTGTGAACAGCCACTGCATTCCAGCCTGGGCAGTGTGTTGAGGCCCCATCTCAAAAACATAAAAAAAAAAACAAAAAACAAAAATGTTTATTGGTTTGTGATTCTGTTTCCATTTATTTTCTTTGGCTTTTAATTTTTTTGACTCTTCTTA... | benign | 251,115 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 31190413, gene FUS (FUS RNA binding protein). What disease(s) is it linked to if pathogenic? | benign | CACACGTGGTGGCATGAAAAGAGTGGCTAAAGTGGTATCAAGACTGCCTGGATGTTCTTTGAAACTATTATAAAAAGGAAACTGAAAAAAATGGGGATAGAGAAGGAAGGGAGTTAGGTGTGTCCTTAGTTAGCAGTGAGAAGTATTTGTTACGAAGTATTTCTCAGAAATACCTGGCTTGTGGGTTCCACCCCCAGTGATTTAGGTCTGAGAGGACCCTGAAAATCTACCTTTCTAACAAGTCCCCAGTGATGCTGATGCGTCTGGACCACACTCAGATGGTTTACAGCAGTGGTTCTTTCAAAATGTGGATCATGTCC... | CACACGTGGTGGCATGAAAAGAGTGGCTAAAGTGGTATCAAGACTGCCTGGATGTTCTTTGAAACTATTATAAAAAGGAAACTGAAAAAAATGGGGATAGAGAAGGAAGGGAGTTAGGTGTGTCCTTAGTTAGCAGTGAGAAGTATTTGTTACGAAGTATTTCTCAGAAATACCTGGCTTGTGGGTTCCACCCCCAGTGATTTAGGTCTGAGAGGACCCTGAAAATCTACCTTTCTAACAAGTCCCCAGTGATGCTGATGCGTCTGGACCACACTCAGATGGTTTACAGCAGTGGTTCTTTCAAAATGTGGATCATGTCC... | benign | 251,131 |
For chromosome 16, position 31190960, gene FUS (FUS RNA binding protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_6', 'FUS-related_disorder', 'Tremor,_hereditary_essential,_4'] | AACATGTTTCAAAGGATAATTGTCAAACTGAATCTGAAATTTATCAGCATGGCTGGCATATAGGGACTCAAAAGGGATGTGGATTTCTTTTTAGTTGTCTTCCATAAACCAAATGATACCAGTTGCTTGATGGATACTAGGTGCTTTAGGTTTTTTCCTGTGTTTTTTATTTTACCTTTTCACATTTGCATTTTCTCTGTTCAACAAGCAGAACAGGATAATTCAGACAACAACACCATCTTTGTGCAAGGCCTGGGTGAGAATGTTACAATTGAGTCTGTGGCTGATTACTTCAAGCAGATTGGTATTATTAAGGTACT... | AACATGTTTCAAAGGATAATTGTCAAACTGAATCTGAAATTTATCAGCATGGCTGGCATATAGGGACTCAAAAGGGATGTGGATTTCTTTTTAGTTGTCTTCCATAAACCAAATGATACCAGTTGCTTGATGGATACTAGGTGCTTTAGGTTTTTTCCTGTGTTTTTTATTTTACCTTTTCACATTTGCATTTTCTCTGTTCAACAAGCAGAACAGGATAATTCAGACAACAACACCATCTTTGTGCAAGGCCTGGGTGAGAATGTTACAATTGAGTCTGTGGCTGATTACTTCAAGCAGATTGGTATTATTAAGGTACT... | pathogenic | 251,132 |
Does the chromosome 16 mutation at position 31191117 within gene FUS (FUS RNA binding protein) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CTGTGTTTTTTATTTTACCTTTTCACATTTGCATTTTCTCTGTTCAACAAGCAGAACAGGATAATTCAGACAACAACACCATCTTTGTGCAAGGCCTGGGTGAGAATGTTACAATTGAGTCTGTGGCTGATTACTTCAAGCAGATTGGTATTATTAAGGTACTTGTGGAGAGGAGTGGGAGCTTTCTGTCAGTGTTGTAGGCTTGTGGATTTCACACATTAGTAAAAGCAAGTCTTTAATGGTTGCCAGCAGTAAAAACAAGTCTTAGTGGTTGTTGCCAGCTTAATTTGTTGAGGAAAGAGCCTTAGTTACTGTTTTCT... | CTGTGTTTTTTATTTTACCTTTTCACATTTGCATTTTCTCTGTTCAACAAGCAGAACAGGATAATTCAGACAACAACACCATCTTTGTGCAAGGCCTGGGTGAGAATGTTACAATTGAGTCTGTGGCTGATTACTTCAAGCAGATTGGTATTATTAAGGTACTTGTGGAGAGGAGTGGGAGCTTTCTGTCAGTGTTGTAGGCTTGTGGATTTCACACATTAGTAAAAGCAAGTCTTTAATGGTTGCCAGCAGTAAAAACAAGTCTTAGTGGTTGTTGCCAGCTTAATTTGTTGAGGAAAGAGCCTTAGTTACTGTTTTCT... | benign | 251,137 |
Benign or pathogenic: chromosome 16, position 31191406, gene FUS (FUS RNA binding protein) variant? Disease(s) if pathogenic? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_6', 'Tremor,_hereditary_essential,_4'] | GTTGAGGAAAGAGCCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAA... | GTTGAGGAAAGAGCCTTAGTTACTGTTTTCTAAAAGAGAAGTTCTATCTTAACACAAAAAGTATAACTTATCAGAGTACCCTAAACTCTTGAGATTTGTACTCTATAGTAACTTTTAGTTTTATCTTTCAATATTGGAGTGAGAGACAGTTTTCTTTAATGGAGGTTTACATGTGAGGTAGGAAGAAGTAACTGGGAAGAGGGGAGCTGAAGTTTGGGAATTATAAACCTCATGTTCTAGAGGAAGAAGATGGAAAGGGAGTACTGTAGCCTTTAAAATTGATGTTACCTCATTTTGCTTTCTTCAGACAAACAAGAAAA... | pathogenic | 251,140 |
Gene SLC5A2 (solute carrier family 5 member 2) variant at chromosome position 31484914 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_renal_glucosuria'] | ATTTTTAGGGAGTAAAAGAGTGATTTTGAGCCTGGAGCACAGGGGAGAGGGCGGATGCTAAGGCCCAGGAAAGAGTGCTCTTGAACTTGGAAGGGCCCAGCTCCCCAAGACCAGCCTTCAGCCTTGATATGACCTGATTCAGCTAAACAAAGCTGGGGAGCGGGAATGAGACCTGGGGGACTTGTCGGCTCAGTGCCCCTGAGGTAACCATTAATCCTTCCCCTGGGGGAATCCAGGGGCTGGTTCCTGGATGGGGCAGATCCTGGGGAGAATGGAGGAGCACACAGAGGCAGGCTCGGCACCAGAGATGGGGGCCCAGA... | ATTTTTAGGGAGTAAAAGAGTGATTTTGAGCCTGGAGCACAGGGGAGAGGGCGGATGCTAAGGCCCAGGAAAGAGTGCTCTTGAACTTGGAAGGGCCCAGCTCCCCAAGACCAGCCTTCAGCCTTGATATGACCTGATTCAGCTAAACAAAGCTGGGGAGCGGGAATGAGACCTGGGGGACTTGTCGGCTCAGTGCCCCTGAGGTAACCATTAATCCTTCCCCTGGGGGAATCCAGGGGCTGGTTCCTGGATGGGGCAGATCCTGGGGAGAATGGAGGAGCACACAGAGGCAGGCTCGGCACCAGAGATGGGGGCCCAGA... | pathogenic | 251,202 |
Is the genetic mutation found on chromosome 16 at position 31486206, within the gene SLC5A2 (solute carrier family 5 member 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_renal_glucosuria', 'SLC5A2-related_disorder'] | GTGAATTGCTTGAAGCCAGGAGTTCAAGGCCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACACACACACACACACACACACACACACACGCACACACACACAAAAAGCTGGGTATAGTGGCGTGTGCCTATAATCCCAGCTACTTTGGAGGCTGAGGCATGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGTAGTGAGCCAAAATCACACCACTGCACTCCAGCCTGGGCAACAAGAGCAAGACTCTGTCTCAAAAAATGAGAAAAAAAAAAAAAGAAAGAAAAAGAAAAAATATGTGAAAAAAACTG... | GTGAATTGCTTGAAGCCAGGAGTTCAAGGCCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACACACACACACACACACACACACACACACGCACACACACACAAAAAGCTGGGTATAGTGGCGTGTGCCTATAATCCCAGCTACTTTGGAGGCTGAGGCATGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGTAGTGAGCCAAAATCACACCACTGCACTCCAGCCTGGGCAACAAGAGCAAGACTCTGTCTCAAAAAATGAGAAAAAAAAAAAAAGAAAGAAAAAGAAAAAATATGTGAAAAAAACTG... | pathogenic | 251,203 |
The mutation in gene VPS35 (VPS35 retromer complex component) at chromosome 16, position 46674662—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ATAACAACCTCCTTTCAGGAGGATAAAAATGCTTATCTAAACACAAATATATATTCATCTATTATTTTTCTGTTGATACAAAACTAGATACAGTTTCCAACTCATGAACAGATGGTATAGCTGGAGTTAAGATGACTGTCTAGAATTTGATGACATTTCTAAGGGAAGTATTTTAAGTGGTAGTTTGGTTCCCAGGGGCCAGCCAACAAGTATTGTATATTCATGATGAAAATAAATAGGAAAAAAACTCCATGCAAAACCAGCAATTTGACACAACAGAAAAACACATAAACTATTTCTTCTGCATCAGATGTTGGTGA... | ATAACAACCTCCTTTCAGGAGGATAAAAATGCTTATCTAAACACAAATATATATTCATCTATTATTTTTCTGTTGATACAAAACTAGATACAGTTTCCAACTCATGAACAGATGGTATAGCTGGAGTTAAGATGACTGTCTAGAATTTGATGACATTTCTAAGGGAAGTATTTTAAGTGGTAGTTTGGTTCCCAGGGGCCAGCCAACAAGTATTGTATATTCATGATGAAAATAAATAGGAAAAAAACTCCATGCAAAACCAGCAATTTGACACAACAGAAAAACACATAAACTATTTCTTCTGCATCAGATGTTGGTGA... | benign | 251,228 |
A mutation at chromosome position 46692440 on chromosome 16 in gene ORC6 (origin recognition complex subunit 6): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Meier-Gorlin_syndrome_3'] | GAGCAGTCAGGCGAGGGAAGGCAAGGAAAACAGCACTTAAAAGATTTGAAGACAAACCTGCAGGACTCGGTAGTCATTTAGAACAGTGGTTCTCAAAATGTGGTTCCTGGACCAGCAACAGCCATATCATCTTGTCACTTGTTAGAAATACAAATTCTTGGGTCCCACCTCAAGCCTGCTGATCAGTAACTCGGCCTGGGACCCAGTAATTTGCAAGTCCCCAAGGTGATTTTCGCCTACCATCAAGTTTAAGAACTACTGATTTAAAGGAAATAGGAGGAAAGGAGGAACCCTGGTCTAACCTGCCTGTCTCTGATAGT... | GAGCAGTCAGGCGAGGGAAGGCAAGGAAAACAGCACTTAAAAGATTTGAAGACAAACCTGCAGGACTCGGTAGTCATTTAGAACAGTGGTTCTCAAAATGTGGTTCCTGGACCAGCAACAGCCATATCATCTTGTCACTTGTTAGAAATACAAATTCTTGGGTCCCACCTCAAGCCTGCTGATCAGTAACTCGGCCTGGGACCCAGTAATTTGCAAGTCCCCAAGGTGATTTTCGCCTACCATCAAGTTTAAGAACTACTGATTTAAAGGAAATAGGAGGAAAGGAGGAACCCTGGTCTAACCTGCCTGTCTCTGATAGT... | pathogenic | 251,241 |
Evaluate the clinical significance of the mutation at chromosome 16, position 47515577 in gene PHKB (phosphorylase kinase regulatory subunit beta): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Glycogen_storage_disease_IXb'] | AGTCAGGAGACACCCAGAATCAGCCTGGTTCCTCAGAGGGCCACCAGCAGTGCCAAGCCCTGGGCTCCTCTGCCCAAAGCCTCCAGGGCACCAATAATTTTCTGCCCCAATTTCCCATCTATTACTCAGTTGGGCTGGAGGAGAGTCATGGGAGACATAGCCACTGGAGCTGTCAGAGGGAAATAATCTATGTTAGAATTCTATGGAAACAAAATTACATCTTGCTTTCTCTTTGTTTTTAACTCAGGCTTACAGTTTCCTGGCTGAAAGTTTTTCACTGCCTTTTTAAAAATTTACTTATTTAATAACAGTTTTATTGA... | AGTCAGGAGACACCCAGAATCAGCCTGGTTCCTCAGAGGGCCACCAGCAGTGCCAAGCCCTGGGCTCCTCTGCCCAAAGCCTCCAGGGCACCAATAATTTTCTGCCCCAATTTCCCATCTATTACTCAGTTGGGCTGGAGGAGAGTCATGGGAGACATAGCCACTGGAGCTGTCAGAGGGAAATAATCTATGTTAGAATTCTATGGAAACAAAATTACATCTTGCTTTCTCTTTGTTTTTAACTCAGGCTTACAGTTTCCTGGCTGAAAGTTTTTCACTGCCTTTTTAAAAATTTACTTATTTAATAACAGTTTTATTGA... | pathogenic | 251,285 |
Is the genetic mutation found on chromosome 16 at position 47515578, within the gene PHKB (phosphorylase kinase regulatory subunit beta), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease_IXb'] | GTCAGGAGACACCCAGAATCAGCCTGGTTCCTCAGAGGGCCACCAGCAGTGCCAAGCCCTGGGCTCCTCTGCCCAAAGCCTCCAGGGCACCAATAATTTTCTGCCCCAATTTCCCATCTATTACTCAGTTGGGCTGGAGGAGAGTCATGGGAGACATAGCCACTGGAGCTGTCAGAGGGAAATAATCTATGTTAGAATTCTATGGAAACAAAATTACATCTTGCTTTCTCTTTGTTTTTAACTCAGGCTTACAGTTTCCTGGCTGAAAGTTTTTCACTGCCTTTTTAAAAATTTACTTATTTAATAACAGTTTTATTGAG... | GTCAGGAGACACCCAGAATCAGCCTGGTTCCTCAGAGGGCCACCAGCAGTGCCAAGCCCTGGGCTCCTCTGCCCAAAGCCTCCAGGGCACCAATAATTTTCTGCCCCAATTTCCCATCTATTACTCAGTTGGGCTGGAGGAGAGTCATGGGAGACATAGCCACTGGAGCTGTCAGAGGGAAATAATCTATGTTAGAATTCTATGGAAACAAAATTACATCTTGCTTTCTCTTTGTTTTTAACTCAGGCTTACAGTTTCCTGGCTGAAAGTTTTTCACTGCCTTTTTAAAAATTTACTTATTTAATAACAGTTTTATTGAG... | pathogenic | 251,286 |
Clinical significance of chromosome 16, position 47650775, gene PHKB (phosphorylase kinase regulatory subunit beta): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTTATCTGAAGTATTATTTTCTGCTAGTAAACATTACTTATTTAGCATCATATCATGGAAGTCTTATAAATATGAAGGAGCACCTCACTGCTAAATATATTTTTTCTAAGCTTTGTAAAATATCTAATTATAACAATATTTACTCACAGACTTTTCCATCATATTAGAGGTAGACTGCTTTAAGTTTATTGGTATACTGATTCCATCAAGAAACTTAAAAATTTTTAAATATTATCTGGATGTCGCAAGCTATTAATTTATGTGCTTATTCAGAATTAGACATCAGTTTTTATTTTTATTGAGACTTACAGCACTGCACC... | CTTATCTGAAGTATTATTTTCTGCTAGTAAACATTACTTATTTAGCATCATATCATGGAAGTCTTATAAATATGAAGGAGCACCTCACTGCTAAATATATTTTTTCTAAGCTTTGTAAAATATCTAATTATAACAATATTTACTCACAGACTTTTCCATCATATTAGAGGTAGACTGCTTTAAGTTTATTGGTATACTGATTCCATCAAGAAACTTAAAAATTTTTAAATATTATCTGGATGTCGCAAGCTATTAATTTATGTGCTTATTCAGAATTAGACATCAGTTTTTATTTTTATTGAGACTTACAGCACTGCACC... | benign | 251,310 |
Evaluate the clinical significance of the mutation at chromosome 16, position 47665934 in gene PHKB (phosphorylase kinase regulatory subunit beta): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TAGCATGTCTGTCCCCCCACTGCCTCCACCAAAATTCTGAGAACAAAGACACTGTAGGGATTGAACCTGAAGAGTATTCGCTGGAATGGTATGCTAAGGTTTCTTTCCTGCTGTACACCTCCTCTGCCCCAACAAGGTGCTTTAAGTTCTGTTTTTTAATTTAGGAAACCTGTTCTGCTATTATAGAAGGCCATGAAAAGAGACCAGTGATTTATCTAATCATAAGCAAAAATAGTAGAAGGCTATTGTCTTGTCACTTAAGTTGAATGAATCCCAGTGATTGTAGTTGCTTCACGAAAAATAACCAATTTGTTCTACAG... | TAGCATGTCTGTCCCCCCACTGCCTCCACCAAAATTCTGAGAACAAAGACACTGTAGGGATTGAACCTGAAGAGTATTCGCTGGAATGGTATGCTAAGGTTTCTTTCCTGCTGTACACCTCCTCTGCCCCAACAAGGTGCTTTAAGTTCTGTTTTTTAATTTAGGAAACCTGTTCTGCTATTATAGAAGGCCATGAAAAGAGACCAGTGATTTATCTAATCATAAGCAAAAATAGTAGAAGGCTATTGTCTTGTCACTTAAGTTGAATGAATCCCAGTGATTGTAGTTGCTTCACGAAAAATAACCAATTTGTTCTACAG... | benign | 251,325 |
Clinically, how would you classify the variant at chromosome 16, position 47669238, gene PHKB (phosphorylase kinase regulatory subunit beta): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TGGGGGCCAAGGCGGGAGGATCACTTGAGGCCAGGAATTCGAGACCAGCCTGAGCACATAGCAAGACCCTATCTCTGCAAAAAAAAGAAAAAAAAAATAGTTGGGCCTGGTGGCACATGCCTTTGGTTTCAGTGCCTTGGGAAGCTGAGGTAGGAGGATTGCTTGAGCCCAAGAGTTTGAGGCTGTAGTGAGCTGTGATCATACACTCCAGCCTGGGCAACACAGCAATACCCTGTCGTTTAAAGAAATTAAAAAGAAAAAATACAAAAACTCCTAAGAAAAAGTTAAATCACTTCATATATGTTATTTTCTCCAAATTA... | TGGGGGCCAAGGCGGGAGGATCACTTGAGGCCAGGAATTCGAGACCAGCCTGAGCACATAGCAAGACCCTATCTCTGCAAAAAAAAGAAAAAAAAAATAGTTGGGCCTGGTGGCACATGCCTTTGGTTTCAGTGCCTTGGGAAGCTGAGGTAGGAGGATTGCTTGAGCCCAAGAGTTTGAGGCTGTAGTGAGCTGTGATCATACACTCCAGCCTGGGCAACACAGCAATACCCTGTCGTTTAAAGAAATTAAAAAGAAAAAATACAAAAACTCCTAAGAAAAAGTTAAATCACTTCATATATGTTATTTTCTCCAAATTA... | benign | 251,329 |
A genetic variant at chromosome 16, position 47669242, affecting gene PHKB (phosphorylase kinase regulatory subunit beta)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Glycogen_storage_disease_IXb'] | GGCCAAGGCGGGAGGATCACTTGAGGCCAGGAATTCGAGACCAGCCTGAGCACATAGCAAGACCCTATCTCTGCAAAAAAAAGAAAAAAAAAATAGTTGGGCCTGGTGGCACATGCCTTTGGTTTCAGTGCCTTGGGAAGCTGAGGTAGGAGGATTGCTTGAGCCCAAGAGTTTGAGGCTGTAGTGAGCTGTGATCATACACTCCAGCCTGGGCAACACAGCAATACCCTGTCGTTTAAAGAAATTAAAAAGAAAAAATACAAAAACTCCTAAGAAAAAGTTAAATCACTTCATATATGTTATTTTCTCCAAATTATTGA... | GGCCAAGGCGGGAGGATCACTTGAGGCCAGGAATTCGAGACCAGCCTGAGCACATAGCAAGACCCTATCTCTGCAAAAAAAAGAAAAAAAAAATAGTTGGGCCTGGTGGCACATGCCTTTGGTTTCAGTGCCTTGGGAAGCTGAGGTAGGAGGATTGCTTGAGCCCAAGAGTTTGAGGCTGTAGTGAGCTGTGATCATACACTCCAGCCTGGGCAACACAGCAATACCCTGTCGTTTAAAGAAATTAAAAAGAAAAAATACAAAAACTCCTAAGAAAAAGTTAAATCACTTCATATATGTTATTTTCTCCAAATTATTGA... | pathogenic | 251,330 |
Variant chromosome 16, position 47698601, gene PHKB (phosphorylase kinase regulatory subunit beta): benign or pathogenic? Disease(s)? | benign | AAGGGAAACTGCCTATGAGACCCAGAATCCTATTCTTTCCAGTACCCCGATCTCTCCTGTGAGACCCAGAACCCTATTCTTTCCGGAACCTTGATCTCTCCCAGCCGAGTCCTCAAGAAGATGGCCACCCCTGACCCAAGGCAAGGCACACGAGCAATTCAGACACCTCAGGCTCCTCCAGGAAGGGAGAACCGACCCCTGCTTTTCAGCCACACAATCACCCCTTAGCATCAAGTGTATCAGCCACATCATAAAAGTACAGGAAGTGACCTTTTTCTATTCACTTTCTTTTCTATTCACAGAAATAAGCACAACTATTG... | AAGGGAAACTGCCTATGAGACCCAGAATCCTATTCTTTCCAGTACCCCGATCTCTCCTGTGAGACCCAGAACCCTATTCTTTCCGGAACCTTGATCTCTCCCAGCCGAGTCCTCAAGAAGATGGCCACCCCTGACCCAAGGCAAGGCACACGAGCAATTCAGACACCTCAGGCTCCTCCAGGAAGGGAGAACCGACCCCTGCTTTTCAGCCACACAATCACCCCTTAGCATCAAGTGTATCAGCCACATCATAAAAGTACAGGAAGTGACCTTTTTCTATTCACTTTCTTTTCTATTCACAGAAATAAGCACAACTATTG... | benign | 251,343 |
A genetic variant on chromosome 16, position 47698601, affects the gene PHKB (phosphorylase kinase regulatory subunit beta). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AAGGGAAACTGCCTATGAGACCCAGAATCCTATTCTTTCCAGTACCCCGATCTCTCCTGTGAGACCCAGAACCCTATTCTTTCCGGAACCTTGATCTCTCCCAGCCGAGTCCTCAAGAAGATGGCCACCCCTGACCCAAGGCAAGGCACACGAGCAATTCAGACACCTCAGGCTCCTCCAGGAAGGGAGAACCGACCCCTGCTTTTCAGCCACACAATCACCCCTTAGCATCAAGTGTATCAGCCACATCATAAAAGTACAGGAAGTGACCTTTTTCTATTCACTTTCTTTTCTATTCACAGAAATAAGCACAACTATTG... | AAGGGAAACTGCCTATGAGACCCAGAATCCTATTCTTTCCAGTACCCCGATCTCTCCTGTGAGACCCAGAACCCTATTCTTTCCGGAACCTTGATCTCTCCCAGCCGAGTCCTCAAGAAGATGGCCACCCCTGACCCAAGGCAAGGCACACGAGCAATTCAGACACCTCAGGCTCCTCCAGGAAGGGAGAACCGACCCCTGCTTTTCAGCCACACAATCACCCCTTAGCATCAAGTGTATCAGCCACATCATAAAAGTACAGGAAGTGACCTTTTTCTATTCACTTTCTTTTCTATTCACAGAAATAAGCACAACTATTG... | benign | 251,344 |
Does the genetic variant at chromosome 16, position 47698601, impacting gene PHKB (phosphorylase kinase regulatory subunit beta), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AAGGGAAACTGCCTATGAGACCCAGAATCCTATTCTTTCCAGTACCCCGATCTCTCCTGTGAGACCCAGAACCCTATTCTTTCCGGAACCTTGATCTCTCCCAGCCGAGTCCTCAAGAAGATGGCCACCCCTGACCCAAGGCAAGGCACACGAGCAATTCAGACACCTCAGGCTCCTCCAGGAAGGGAGAACCGACCCCTGCTTTTCAGCCACACAATCACCCCTTAGCATCAAGTGTATCAGCCACATCATAAAAGTACAGGAAGTGACCTTTTTCTATTCACTTTCTTTTCTATTCACAGAAATAAGCACAACTATTG... | AAGGGAAACTGCCTATGAGACCCAGAATCCTATTCTTTCCAGTACCCCGATCTCTCCTGTGAGACCCAGAACCCTATTCTTTCCGGAACCTTGATCTCTCCCAGCCGAGTCCTCAAGAAGATGGCCACCCCTGACCCAAGGCAAGGCACACGAGCAATTCAGACACCTCAGGCTCCTCCAGGAAGGGAGAACCGACCCCTGCTTTTCAGCCACACAATCACCCCTTAGCATCAAGTGTATCAGCCACATCATAAAAGTACAGGAAGTGACCTTTTTCTATTCACTTTCTTTTCTATTCACAGAAATAAGCACAACTATTG... | benign | 251,345 |
Regarding the variant at chromosome 16 and position 50719906, affecting gene NOD2 (nucleotide binding oligomerization domain containing 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CCAACACAGTAGTCCTCCGGTATGTGCAGGAGAGATGTTCTAAGACCCCAGTGGATGCCTGAAACCATGGAGAGTATCAAGCCCTACACATACCATGCTTTTCCCAATACCTACACACCTGCAATAAAGTGTAGTTTATAAATTAGGCACAGTAAGAGAGTAATAGCAACTCATAATAAAATAGAACAATTATAACAATCAATGTACTATAATAACACTATGTGAATGTGGACTCTCTCCATCTCCCTCAAAATATCTTCTTGTACTGTACTCACCCTTCTTCTTGGGAAGATGTGTGGTGGTAAAATGCCTGTGTGATG... | CCAACACAGTAGTCCTCCGGTATGTGCAGGAGAGATGTTCTAAGACCCCAGTGGATGCCTGAAACCATGGAGAGTATCAAGCCCTACACATACCATGCTTTTCCCAATACCTACACACCTGCAATAAAGTGTAGTTTATAAATTAGGCACAGTAAGAGAGTAATAGCAACTCATAATAAAATAGAACAATTATAACAATCAATGTACTATAATAACACTATGTGAATGTGGACTCTCTCCATCTCCCTCAAAATATCTTCTTGTACTGTACTCACCCTTCTTCTTGGGAAGATGTGTGGTGGTAAAATGCCTGTGTGATG... | benign | 251,497 |
Considering the variant on chromosome 16, location 51137019, involving gene SALL1 (spalt like transcription factor 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CTCCCCTGAACTCTCCCGGCCCAGGTCAGCGCCCACCTTCTGGAACGCCGGACCCGGACCCGGACCCGGACCCGGAGGCCGAGCAGGGGTTGAGGGCGCCCCCTCGGCACAGAGTCTAACGACAGGGTCGGGGGAGTGCGGACCCGAGTGGCCCGCGCCCTGGTGGAAACTTCTGCAGGAAGCGGCCCGACGCTTTCTACCTTACCTGGGCACAACCGCCGGATGCGCGGTTCACCAGCTCCCTGAAACATTAAAAAAAAAAAAAAAATCGGCGACCCCTCTGGACACAGCTTCCCTTCAGTCCGTTTGCTCACCTCAAA... | CTCCCCTGAACTCTCCCGGCCCAGGTCAGCGCCCACCTTCTGGAACGCCGGACCCGGACCCGGACCCGGACCCGGAGGCCGAGCAGGGGTTGAGGGCGCCCCCTCGGCACAGAGTCTAACGACAGGGTCGGGGGAGTGCGGACCCGAGTGGCCCGCGCCCTGGTGGAAACTTCTGCAGGAAGCGGCCCGACGCTTTCTACCTTACCTGGGCACAACCGCCGGATGCGCGGTTCACCAGCTCCCTGAAACATTAAAAAAAAAAAAAAAATCGGCGACCCCTCTGGACACAGCTTCCCTTCAGTCCGTTTGCTCACCTCAAA... | benign | 251,548 |
Is chromosome 16, position 51137582, gene SALL1 (spalt like transcription factor 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CAGGAACTCCCCAGCAATGTGGCTCTCAGCTGCCTGAAAAAACGTGACTGCATTAAGTGAAATAAAACCAGAATAGTAAAAGTGAAATCTAAATCGGCATAAATATCTTGCTTAAAAGAAACTTACCTGTTGGGTTAAAACCTCCAACAACATCTTTTTATGTCATTTCGTTGTTTTGCTTTTCTTGGGGGTGGGGTGGGTAGCGAGTGGAGTCTATAAAATCCATTCCTAAATAAATCATAGATACTGGGAAAATATCTAGGGCCTCCAAATTTCAAAATAAAAGAAAACGCAGGCCCATGCAAAGCCGTTTGTTATGC... | CAGGAACTCCCCAGCAATGTGGCTCTCAGCTGCCTGAAAAAACGTGACTGCATTAAGTGAAATAAAACCAGAATAGTAAAAGTGAAATCTAAATCGGCATAAATATCTTGCTTAAAAGAAACTTACCTGTTGGGTTAAAACCTCCAACAACATCTTTTTATGTCATTTCGTTGTTTTGCTTTTCTTGGGGGTGGGGTGGGTAGCGAGTGGAGTCTATAAAATCCATTCCTAAATAAATCATAGATACTGGGAAAATATCTAGGGCCTCCAAATTTCAAAATAAAAGAAAACGCAGGCCCATGCAAAGCCGTTTGTTATGC... | benign | 251,558 |
Evaluate the clinical significance of the mutation at chromosome 16, position 51138806 in gene SALL1 (spalt like transcription factor 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Inborn_genetic_diseases', 'SALL1-related_disorder', 'Townes-Brocks_syndrome_1', 'Townes_syndrome'] | TATAGAAAATAAGTTAATGCCAGATTACAACTGCCTAGCAGGGCAACTTGCAATTGCCATAAATGTTACAGCAAGTTTACAGCACTCTAGTCAATTAGTATTTAGTCCAAAATACAGAAGACCAAAGTTAACGCTTGCATTCTGTTTGCAAAGCAAGGTTATATCGCTAATAAATAAGCTTTCTTAGAACTCTAAAGTTGAACAAGGTACAAAAGAATGTCTTCATAATGTTGTAGTTCATAGATCTGGGGAACAGAAGGAAGGGGCGGGGCGGGGTGGGGGGCAAGGAGTAGGAGGCCACCATAGGTCGCATTCTGAAC... | TATAGAAAATAAGTTAATGCCAGATTACAACTGCCTAGCAGGGCAACTTGCAATTGCCATAAATGTTACAGCAAGTTTACAGCACTCTAGTCAATTAGTATTTAGTCCAAAATACAGAAGACCAAAGTTAACGCTTGCATTCTGTTTGCAAAGCAAGGTTATATCGCTAATAAATAAGCTTTCTTAGAACTCTAAAGTTGAACAAGGTACAAAAGAATGTCTTCATAATGTTGTAGTTCATAGATCTGGGGAACAGAAGGAAGGGGCGGGGCGGGGTGGGGGGCAAGGAGTAGGAGGCCACCATAGGTCGCATTCTGAAC... | pathogenic | 251,561 |
Variant at chromosome 16, position 51141350, gene SALL1 (spalt like transcription factor 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Townes_syndrome'] | ATGTCAAATCCAAAGCCCCACCATTCACTGGGGTGGGAGACAAACCATTGGCAAACTCGCTTGGGACCGCTCTCTGTGGTTTCTCCTCAATGCTGGGTGACTTGTGGAACTCCTGCGTGCTGTTGGACGGGGACAGAGCCTGCATGGAAGAGGTAGACTCTGAGATGGCTGGGCTGCCAGCACTTTGGCTTTCCATGTCACCACCCACTGAGGATGAATCATTGGTCAGGACATCCCCCTCGATGGACCCATTCTCCACTGACTTCAGGCTGGCCTGTAGCTGCTCTGCCAGGCCAGCATTGATCATCTTCATCTGATTT... | ATGTCAAATCCAAAGCCCCACCATTCACTGGGGTGGGAGACAAACCATTGGCAAACTCGCTTGGGACCGCTCTCTGTGGTTTCTCCTCAATGCTGGGTGACTTGTGGAACTCCTGCGTGCTGTTGGACGGGGACAGAGCCTGCATGGAAGAGGTAGACTCTGAGATGGCTGGGCTGCCAGCACTTTGGCTTTCCATGTCACCACCCACTGAGGATGAATCATTGGTCAGGACATCCCCCTCGATGGACCCATTCTCCACTGACTTCAGGCTGGCCTGTAGCTGCTCTGCCAGGCCAGCATTGATCATCTTCATCTGATTT... | pathogenic | 251,590 |
Is the variant located on chromosome 16 at position 51141744, gene SALL1 (spalt like transcription factor 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CTTAGGTGTATCAGGGATGCTGCCCTCAGGACAGTCTTCCATGTTTTCATCAGAGAAGTTGTCTAGGTCATCAAAATTTTTCTCATCAAAGGAACCTGTGTCAGACTCCATGGACTCAGAGTAGCTGTCGGGGACTGGGGTGTTGGGGATCTGGCCTCCCATATGCATTCGGATGTGCTGCTGCAGGACCACAGCGTTCGTGAACTTCTTCTGGCAGATGGGGCAGGAATGCTGGACTCTGAGCGGGGGCATAGCACGATGGACACTGTAGTGGGTTTTAAGATTCCCTTTCGTGGTGAAAGCCCGGCCACAGATCTTAC... | CTTAGGTGTATCAGGGATGCTGCCCTCAGGACAGTCTTCCATGTTTTCATCAGAGAAGTTGTCTAGGTCATCAAAATTTTTCTCATCAAAGGAACCTGTGTCAGACTCCATGGACTCAGAGTAGCTGTCGGGGACTGGGGTGTTGGGGATCTGGCCTCCCATATGCATTCGGATGTGCTGCTGCAGGACCACAGCGTTCGTGAACTTCTTCTGGCAGATGGGGCAGGAATGCTGGACTCTGAGCGGGGGCATAGCACGATGGACACTGTAGTGGGTTTTAAGATTCCCTTTCGTGGTGAAAGCCCGGCCACAGATCTTAC... | benign | 251,601 |
Is the genetic change at chromosome 16, position 51141744, within gene SALL1 (spalt like transcription factor 1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTTAGGTGTATCAGGGATGCTGCCCTCAGGACAGTCTTCCATGTTTTCATCAGAGAAGTTGTCTAGGTCATCAAAATTTTTCTCATCAAAGGAACCTGTGTCAGACTCCATGGACTCAGAGTAGCTGTCGGGGACTGGGGTGTTGGGGATCTGGCCTCCCATATGCATTCGGATGTGCTGCTGCAGGACCACAGCGTTCGTGAACTTCTTCTGGCAGATGGGGCAGGAATGCTGGACTCTGAGCGGGGGCATAGCACGATGGACACTGTAGTGGGTTTTAAGATTCCCTTTCGTGGTGAAAGCCCGGCCACAGATCTTAC... | CTTAGGTGTATCAGGGATGCTGCCCTCAGGACAGTCTTCCATGTTTTCATCAGAGAAGTTGTCTAGGTCATCAAAATTTTTCTCATCAAAGGAACCTGTGTCAGACTCCATGGACTCAGAGTAGCTGTCGGGGACTGGGGTGTTGGGGATCTGGCCTCCCATATGCATTCGGATGTGCTGCTGCAGGACCACAGCGTTCGTGAACTTCTTCTGGCAGATGGGGCAGGAATGCTGGACTCTGAGCGGGGGCATAGCACGATGGACACTGTAGTGGGTTTTAAGATTCCCTTTCGTGGTGAAAGCCCGGCCACAGATCTTAC... | benign | 251,602 |
Evaluate this variant at chromosome 16, position 51151128, gene SALL1 (spalt like transcription factor 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TACCTCAAAGCTCAAATAAACTAAATTGAAAAAAATAGTACTAATAAAGAATAATGGTAAGAGGTAGTGAACTCCTTTTATATTATTGCTTTATGAGAAGACTTAACTATTAAAAATTCCTGATACTGAAGGCAAAAGGCAAAGATCTTCCACGCATCATTTCTCCTCGAAGGCCGAGACTTTTTTTTTTTAAATGTAGAAAACCAGTACAAATTTACAAAACACACTATATAATGCTCTCTTATCTCTAGTTTGCTTTTTTGTGTACAAACTGTTAACCTGAACAGTTTTCCGGTGCAAAAGGTCTCACCAGAAACTTT... | TACCTCAAAGCTCAAATAAACTAAATTGAAAAAAATAGTACTAATAAAGAATAATGGTAAGAGGTAGTGAACTCCTTTTATATTATTGCTTTATGAGAAGACTTAACTATTAAAAATTCCTGATACTGAAGGCAAAAGGCAAAGATCTTCCACGCATCATTTCTCCTCGAAGGCCGAGACTTTTTTTTTTTAAATGTAGAAAACCAGTACAAATTTACAAAACACACTATATAATGCTCTCTTATCTCTAGTTTGCTTTTTTGTGTACAAACTGTTAACCTGAACAGTTTTCCGGTGCAAAAGGTCTCACCAGAAACTTT... | benign | 251,617 |
A genetic alteration at chromosome 16, position 53619022, in gene RPGRIP1L (RPGRIP1 like)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5'] | AGGTGAAAGGATCGCTTAAACCCAGGAAGTGGAGGTTGCAGTAAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAATAGCACCAGACCTTGCATCACAAAAAAAAAAAAAAAAAAAAAAAAAAGCACAACTAACAAAACACCCCAAACAGACCTAGAGGTAACCATGTGAGAATGCACAAAATTTGGGCCACTTGAGCATATATCACAGTTTGAGCTAAAGAAAGATTTGTATTGCTCTTCAAGCAAATGGAAACATCTACTCCTTGACATGGCCAAGTTTCTCAATAGACAATTAATCTCTAAAAAACAATGTTGT... | AGGTGAAAGGATCGCTTAAACCCAGGAAGTGGAGGTTGCAGTAAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAATAGCACCAGACCTTGCATCACAAAAAAAAAAAAAAAAAAAAAAAAAAGCACAACTAACAAAACACCCCAAACAGACCTAGAGGTAACCATGTGAGAATGCACAAAATTTGGGCCACTTGAGCATATATCACAGTTTGAGCTAAAGAAAGATTTGTATTGCTCTTCAAGCAAATGGAAACATCTACTCCTTGACATGGCCAAGTTTCTCAATAGACAATTAATCTCTAAAAAACAATGTTGT... | pathogenic | 251,645 |
Does the variant on chromosome 16 at location 53619033 affecting gene RPGRIP1L (RPGRIP1 like) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5'] | TCGCTTAAACCCAGGAAGTGGAGGTTGCAGTAAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAATAGCACCAGACCTTGCATCACAAAAAAAAAAAAAAAAAAAAAAAAAAGCACAACTAACAAAACACCCCAAACAGACCTAGAGGTAACCATGTGAGAATGCACAAAATTTGGGCCACTTGAGCATATATCACAGTTTGAGCTAAAGAAAGATTTGTATTGCTCTTCAAGCAAATGGAAACATCTACTCCTTGACATGGCCAAGTTTCTCAATAGACAATTAATCTCTAAAAAACAATGTTGTTGCCAGTCCAA... | TCGCTTAAACCCAGGAAGTGGAGGTTGCAGTAAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAATAGCACCAGACCTTGCATCACAAAAAAAAAAAAAAAAAAAAAAAAAAGCACAACTAACAAAACACCCCAAACAGACCTAGAGGTAACCATGTGAGAATGCACAAAATTTGGGCCACTTGAGCATATATCACAGTTTGAGCTAAAGAAAGATTTGTATTGCTCTTCAAGCAAATGGAAACATCTACTCCTTGACATGGCCAAGTTTCTCAATAGACAATTAATCTCTAAAAAACAATGTTGTTGCCAGTCCAA... | pathogenic | 251,646 |
Does the variant impacting RPGRIP1L (RPGRIP1 like) on chromosome 16, position 53619081, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['COACH_syndrome_1', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_and_related_disorders', 'Meckel-Gruber_syndrome'] | CTGCACTCCAGCCTGGGCAATAGCACCAGACCTTGCATCACAAAAAAAAAAAAAAAAAAAAAAAAAAGCACAACTAACAAAACACCCCAAACAGACCTAGAGGTAACCATGTGAGAATGCACAAAATTTGGGCCACTTGAGCATATATCACAGTTTGAGCTAAAGAAAGATTTGTATTGCTCTTCAAGCAAATGGAAACATCTACTCCTTGACATGGCCAAGTTTCTCAATAGACAATTAATCTCTAAAAAACAATGTTGTTGCCAGTCCAACCAAATATTCTACTCCTGACCTTTACAAAGAATAATACAAAAGCCAAA... | CTGCACTCCAGCCTGGGCAATAGCACCAGACCTTGCATCACAAAAAAAAAAAAAAAAAAAAAAAAAAGCACAACTAACAAAACACCCCAAACAGACCTAGAGGTAACCATGTGAGAATGCACAAAATTTGGGCCACTTGAGCATATATCACAGTTTGAGCTAAAGAAAGATTTGTATTGCTCTTCAAGCAAATGGAAACATCTACTCCTTGACATGGCCAAGTTTCTCAATAGACAATTAATCTCTAAAAAACAATGTTGTTGCCAGTCCAACCAAATATTCTACTCCTGACCTTTACAAAGAATAATACAAAAGCCAAA... | pathogenic | 251,647 |
Gene RPGRIP1L (RPGRIP1 like) variant at chromosome 16, position 53622350—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Joubert_syndrome_and_related_disorders', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5', 'RPGRIP1L-related_disorder'] | AAACCCTCTCAATATTTGATGAAGTAATTTTACCCCCTTCTTTCAAAAGACATTTTCTTTTATTATGTATTCTAAGACACTTTAACTAAAAACCCAAATCTGAATATTTCAATAAGGTTATTTTATTATTCAGTAGATTCATGGAAATTTTACTAGGATGACAGAGAAAATTCCACACCATTCTGTCTCCACTAATACAGGTACAAGGCTGCAGCTGGCAATATTACTAGGATTAGCATAGTATGATGAAATATTTAAAGGAAAATTTTTTCTAAAACCTAATAAATCAAATGACTGCCAAATGTCATTAAAGTGATGGT... | AAACCCTCTCAATATTTGATGAAGTAATTTTACCCCCTTCTTTCAAAAGACATTTTCTTTTATTATGTATTCTAAGACACTTTAACTAAAAACCCAAATCTGAATATTTCAATAAGGTTATTTTATTATTCAGTAGATTCATGGAAATTTTACTAGGATGACAGAGAAAATTCCACACCATTCTGTCTCCACTAATACAGGTACAAGGCTGCAGCTGGCAATATTACTAGGATTAGCATAGTATGATGAAATATTTAAAGGAAAATTTTTTCTAAAACCTAATAAATCAAATGACTGCCAAATGTCATTAAAGTGATGGT... | pathogenic | 251,658 |
Regarding the variant at chromosome 16 and position 53622363, affecting gene RPGRIP1L (RPGRIP1 like): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ATTTGATGAAGTAATTTTACCCCCTTCTTTCAAAAGACATTTTCTTTTATTATGTATTCTAAGACACTTTAACTAAAAACCCAAATCTGAATATTTCAATAAGGTTATTTTATTATTCAGTAGATTCATGGAAATTTTACTAGGATGACAGAGAAAATTCCACACCATTCTGTCTCCACTAATACAGGTACAAGGCTGCAGCTGGCAATATTACTAGGATTAGCATAGTATGATGAAATATTTAAAGGAAAATTTTTTCTAAAACCTAATAAATCAAATGACTGCCAAATGTCATTAAAGTGATGGTCTTTGACTTGAAT... | ATTTGATGAAGTAATTTTACCCCCTTCTTTCAAAAGACATTTTCTTTTATTATGTATTCTAAGACACTTTAACTAAAAACCCAAATCTGAATATTTCAATAAGGTTATTTTATTATTCAGTAGATTCATGGAAATTTTACTAGGATGACAGAGAAAATTCCACACCATTCTGTCTCCACTAATACAGGTACAAGGCTGCAGCTGGCAATATTACTAGGATTAGCATAGTATGATGAAATATTTAAAGGAAAATTTTTTCTAAAACCTAATAAATCAAATGACTGCCAAATGTCATTAAAGTGATGGTCTTTGACTTGAAT... | benign | 251,660 |
Variant in gene RPGRIP1L (RPGRIP1 like), located at chromosome 16 position 53641363: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Inborn_genetic_diseases', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5'] | TTTTTGATGGAAATAAAAATTTTGGTTACACAATAATAACTGCATTATAAATACAATATATCCTGTTGCATTTAAAAAATTTAATATCATAACATAAATATTTTCTCCTGATATGAAACTTAGAAAAACATAATTTTAAATGACAATAGAATATTATATTCATGGGTGTGCCATGGCTTAATGAACCATTTTACTATTGTTGGACATTTAACTAGTTCACAGTTTTTAGGTATCATGACTAACATTGCAACAAACACCTCTATGTTTATGTCTTTTTAATGTTAGTGGTCATTTACTTAGGAATCAGGCTACTGTGTTCA... | TTTTTGATGGAAATAAAAATTTTGGTTACACAATAATAACTGCATTATAAATACAATATATCCTGTTGCATTTAAAAAATTTAATATCATAACATAAATATTTTCTCCTGATATGAAACTTAGAAAAACATAATTTTAAATGACAATAGAATATTATATTCATGGGTGTGCCATGGCTTAATGAACCATTTTACTATTGTTGGACATTTAACTAGTTCACAGTTTTTAGGTATCATGACTAACATTGCAACAAACACCTCTATGTTTATGTCTTTTTAATGTTAGTGGTCATTTACTTAGGAATCAGGCTACTGTGTTCA... | pathogenic | 251,676 |
Variant on chromosome 16, at position 53641462, affecting RPGRIP1L (RPGRIP1 like): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['COACH_syndrome_3', 'Joubert_syndrome_7', 'Meckel_syndrome,_type_5'] | ATTTTCTCCTGATATGAAACTTAGAAAAACATAATTTTAAATGACAATAGAATATTATATTCATGGGTGTGCCATGGCTTAATGAACCATTTTACTATTGTTGGACATTTAACTAGTTCACAGTTTTTAGGTATCATGACTAACATTGCAACAAACACCTCTATGTTTATGTCTTTTTAATGTTAGTGGTCATTTACTTAGGAATCAGGCTACTGTGTTCAAATCCCAGTTCTAATACTTGGGCCATGAACAAGTTACTTAACCTCTCTAAACATCACTTTCCCTATCTTTAAACGGGAATAATTCTAGTATCAACTACA... | ATTTTCTCCTGATATGAAACTTAGAAAAACATAATTTTAAATGACAATAGAATATTATATTCATGGGTGTGCCATGGCTTAATGAACCATTTTACTATTGTTGGACATTTAACTAGTTCACAGTTTTTAGGTATCATGACTAACATTGCAACAAACACCTCTATGTTTATGTCTTTTTAATGTTAGTGGTCATTTACTTAGGAATCAGGCTACTGTGTTCAAATCCCAGTTCTAATACTTGGGCCATGAACAAGTTACTTAACCTCTCTAAACATCACTTTCCCTATCTTTAAACGGGAATAATTCTAGTATCAACTACA... | pathogenic | 251,677 |
Mutation at chromosome 16, position 53645636, within RPGRIP1L (RPGRIP1 like): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome'] | ACACCTTTGAACAATCACTGACTGACCACTAAGCTATGCTGACCTATGGTTAAAAGTGAAACAAAAAGAAAAAAAGAAACAAAACTTAGCTGAAACATCAGTGGCTATACACAGCAGAGGAAATAGATTCTACAGAAATAGTCCAGGCAAGTCACCAAGCAAAAATAGCAACAATAACCACCTAGGAAATGACGTTACAATATATTATCCAAAAATGTCCAGTTTTCTACAAAATACTTATGAGACATGCAAAGAAATAGGAAAATGTACTGCATACACAGCAAAAAAACCCATCAATAGACAGTTTTTAAGGATGACCA... | ACACCTTTGAACAATCACTGACTGACCACTAAGCTATGCTGACCTATGGTTAAAAGTGAAACAAAAAGAAAAAAAGAAACAAAACTTAGCTGAAACATCAGTGGCTATACACAGCAGAGGAAATAGATTCTACAGAAATAGTCCAGGCAAGTCACCAAGCAAAAATAGCAACAATAACCACCTAGGAAATGACGTTACAATATATTATCCAAAAATGTCCAGTTTTCTACAAAATACTTATGAGACATGCAAAGAAATAGGAAAATGTACTGCATACACAGCAAAAAAACCCATCAATAGACAGTTTTTAAGGATGACCA... | pathogenic | 251,681 |
Determine whether the variant at chromosome 16, position 53645715, in gene RPGRIP1L (RPGRIP1 like) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5'] | CAAAACTTAGCTGAAACATCAGTGGCTATACACAGCAGAGGAAATAGATTCTACAGAAATAGTCCAGGCAAGTCACCAAGCAAAAATAGCAACAATAACCACCTAGGAAATGACGTTACAATATATTATCCAAAAATGTCCAGTTTTCTACAAAATACTTATGAGACATGCAAAGAAATAGGAAAATGTACTGCATACACAGCAAAAAAACCCATCAATAGACAGTTTTTAAGGATGACCACATGTTAGACTTGGCAAAGATCTCAAAGCAGCTATTATCCATATGTTCAAAGAACTAAAAGAAAGTGTGTTTAAATAAT... | CAAAACTTAGCTGAAACATCAGTGGCTATACACAGCAGAGGAAATAGATTCTACAGAAATAGTCCAGGCAAGTCACCAAGCAAAAATAGCAACAATAACCACCTAGGAAATGACGTTACAATATATTATCCAAAAATGTCCAGTTTTCTACAAAATACTTATGAGACATGCAAAGAAATAGGAAAATGTACTGCATACACAGCAAAAAAACCCATCAATAGACAGTTTTTAAGGATGACCACATGTTAGACTTGGCAAAGATCTCAAAGCAGCTATTATCCATATGTTCAAAGAACTAAAAGAAAGTGTGTTTAAATAAT... | pathogenic | 251,683 |
Variant at chromosome 16, position 53645814, gene RPGRIP1L (RPGRIP1 like): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5'] | CACCTAGGAAATGACGTTACAATATATTATCCAAAAATGTCCAGTTTTCTACAAAATACTTATGAGACATGCAAAGAAATAGGAAAATGTACTGCATACACAGCAAAAAAACCCATCAATAGACAGTTTTTAAGGATGACCACATGTTAGACTTGGCAAAGATCTCAAAGCAGCTATTATCCATATGTTCAAAGAACTAAAAGAAAGTGTGTTTAAATAATTAAAAGGAAAGTATAATGATAATGTTTTATCAAATAGGGAATATAGTAAGAGATTATAATGTTTGGGTGCGGTAGCATGTGCCTGTAGTTTTAGCTGCT... | CACCTAGGAAATGACGTTACAATATATTATCCAAAAATGTCCAGTTTTCTACAAAATACTTATGAGACATGCAAAGAAATAGGAAAATGTACTGCATACACAGCAAAAAAACCCATCAATAGACAGTTTTTAAGGATGACCACATGTTAGACTTGGCAAAGATCTCAAAGCAGCTATTATCCATATGTTCAAAGAACTAAAAGAAAGTGTGTTTAAATAATTAAAAGGAAAGTATAATGATAATGTTTTATCAAATAGGGAATATAGTAAGAGATTATAATGTTTGGGTGCGGTAGCATGTGCCTGTAGTTTTAGCTGCT... | pathogenic | 251,687 |
Assess the variant on chromosome 16, position 53645830, impacting RPGRIP1L (RPGRIP1 like): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5', 'RPGRIP1L-related_disorder'] | TTACAATATATTATCCAAAAATGTCCAGTTTTCTACAAAATACTTATGAGACATGCAAAGAAATAGGAAAATGTACTGCATACACAGCAAAAAAACCCATCAATAGACAGTTTTTAAGGATGACCACATGTTAGACTTGGCAAAGATCTCAAAGCAGCTATTATCCATATGTTCAAAGAACTAAAAGAAAGTGTGTTTAAATAATTAAAAGGAAAGTATAATGATAATGTTTTATCAAATAGGGAATATAGTAAGAGATTATAATGTTTGGGTGCGGTAGCATGTGCCTGTAGTTTTAGCTGCTCAGGAGGCTGAGGCAG... | TTACAATATATTATCCAAAAATGTCCAGTTTTCTACAAAATACTTATGAGACATGCAAAGAAATAGGAAAATGTACTGCATACACAGCAAAAAAACCCATCAATAGACAGTTTTTAAGGATGACCACATGTTAGACTTGGCAAAGATCTCAAAGCAGCTATTATCCATATGTTCAAAGAACTAAAAGAAAGTGTGTTTAAATAATTAAAAGGAAAGTATAATGATAATGTTTTATCAAATAGGGAATATAGTAAGAGATTATAATGTTTGGGTGCGGTAGCATGTGCCTGTAGTTTTAGCTGCTCAGGAGGCTGAGGCAG... | pathogenic | 251,688 |
A mutation at chromosome position 53645875 on chromosome 16 in gene RPGRIP1L (RPGRIP1 like): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5', 'RPGRIP1L-related_disorder'] | ATGAGACATGCAAAGAAATAGGAAAATGTACTGCATACACAGCAAAAAAACCCATCAATAGACAGTTTTTAAGGATGACCACATGTTAGACTTGGCAAAGATCTCAAAGCAGCTATTATCCATATGTTCAAAGAACTAAAAGAAAGTGTGTTTAAATAATTAAAAGGAAAGTATAATGATAATGTTTTATCAAATAGGGAATATAGTAAGAGATTATAATGTTTGGGTGCGGTAGCATGTGCCTGTAGTTTTAGCTGCTCAGGAGGCTGAGGCAGGAGGATCACTTGAGCCTAGGAGTTGAAGTCCAGCCTGGGCAACAT... | ATGAGACATGCAAAGAAATAGGAAAATGTACTGCATACACAGCAAAAAAACCCATCAATAGACAGTTTTTAAGGATGACCACATGTTAGACTTGGCAAAGATCTCAAAGCAGCTATTATCCATATGTTCAAAGAACTAAAAGAAAGTGTGTTTAAATAATTAAAAGGAAAGTATAATGATAATGTTTTATCAAATAGGGAATATAGTAAGAGATTATAATGTTTGGGTGCGGTAGCATGTGCCTGTAGTTTTAGCTGCTCAGGAGGCTGAGGCAGGAGGATCACTTGAGCCTAGGAGTTGAAGTCCAGCCTGGGCAACAT... | pathogenic | 251,692 |
Located at chromosome 16 position 53652534, the variant affecting gene RPGRIP1L (RPGRIP1 like)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5'] | GACTGAAGTGTGGGCACTGCTTGAGTCCAGGAGCTCGAGACCAGCCTGGGCAACAGAGTGAGACCCTGGCTTAATGAAAAAACACCCCAAACAAACAAACAAAAATCTTTGAAAGAATCTGCAGCCTTTGGTGAGGGGACCCAGGGTGGCTAAGGAAAAGGGGAGGGAGGTAGACATTGAAGTCTTTTTGATTTTTGAGTCATGTGAATATATTACCTCAATCAATCACTCAATTAATAAAATAAAATCCGTCCTGAGACCCTAAGTCACCCTCCTTCCTTCTTCAAATACTTTCTTCACTTGGTCTCTGGGGTACCACA... | GACTGAAGTGTGGGCACTGCTTGAGTCCAGGAGCTCGAGACCAGCCTGGGCAACAGAGTGAGACCCTGGCTTAATGAAAAAACACCCCAAACAAACAAACAAAAATCTTTGAAAGAATCTGCAGCCTTTGGTGAGGGGACCCAGGGTGGCTAAGGAAAAGGGGAGGGAGGTAGACATTGAAGTCTTTTTGATTTTTGAGTCATGTGAATATATTACCTCAATCAATCACTCAATTAATAAAATAAAATCCGTCCTGAGACCCTAAGTCACCCTCCTTCCTTCTTCAAATACTTTCTTCACTTGGTCTCTGGGGTACCACA... | pathogenic | 251,705 |
Is the genetic mutation found on chromosome 16 at position 53652659, within the gene RPGRIP1L (RPGRIP1 like), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome'] | CTTTGGTGAGGGGACCCAGGGTGGCTAAGGAAAAGGGGAGGGAGGTAGACATTGAAGTCTTTTTGATTTTTGAGTCATGTGAATATATTACCTCAATCAATCACTCAATTAATAAAATAAAATCCGTCCTGAGACCCTAAGTCACCCTCCTTCCTTCTTCAAATACTTTCTTCACTTGGTCTCTGGGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTAT... | CTTTGGTGAGGGGACCCAGGGTGGCTAAGGAAAAGGGGAGGGAGGTAGACATTGAAGTCTTTTTGATTTTTGAGTCATGTGAATATATTACCTCAATCAATCACTCAATTAATAAAATAAAATCCGTCCTGAGACCCTAAGTCACCCTCCTTCCTTCTTCAAATACTTTCTTCACTTGGTCTCTGGGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTAT... | pathogenic | 251,711 |
A genetic variant at chromosome 16, position 53652727, affecting gene RPGRIP1L (RPGRIP1 like)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5'] | TTTGAGTCATGTGAATATATTACCTCAATCAATCACTCAATTAATAAAATAAAATCCGTCCTGAGACCCTAAGTCACCCTCCTTCCTTCTTCAAATACTTTCTTCACTTGGTCTCTGGGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACT... | TTTGAGTCATGTGAATATATTACCTCAATCAATCACTCAATTAATAAAATAAAATCCGTCCTGAGACCCTAAGTCACCCTCCTTCCTTCTTCAAATACTTTCTTCACTTGGTCTCTGGGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACT... | pathogenic | 251,714 |
Clinical significance of chromosome 16, position 53652977, gene RPGRIP1L (RPGRIP1 like): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5', 'RPGRIP1L-related_disorder'] | ATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAA... | ATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAA... | pathogenic | 251,725 |
Is the chromosome 16, position 53656529 variant in RPGRIP1L (RPGRIP1 like) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5'] | CCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACAC... | CCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACAC... | pathogenic | 251,729 |
Gene RPGRIP1L (RPGRIP1 like) variant at chromosome position 53656556 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5'] | TTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAAT... | TTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAAT... | pathogenic | 251,730 |
Determine whether the variant at chromosome 16, position 53657569, in gene RPGRIP1L (RPGRIP1 like) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5'] | AACTTACATTTTGGTTATGGAGAATATGCAAAACTCCAACAGCTGAAGAACACTTATATGCTCCCCAAACTTACAGCTTCTGAGTGCATGAGAAGAAAACTGGGTTGGTAAGTGCTGAGCTAGTTTTTTTCAACATGTAGTCTTGCACCTCCATCTGAATAGCTTGCAGTTATTTCTAAATACAATATAAAAAAGCATGGGCCCCAGAACCTCTAGGGGTAGGGCCCAGGAAACTACATTTTAAACGAGTTCCTCAAGTGATTTTCCTACTTGCTAAAGTCTAAAAATCACTGTAAGGACATTTCAAGTAGAGGGATCGC... | AACTTACATTTTGGTTATGGAGAATATGCAAAACTCCAACAGCTGAAGAACACTTATATGCTCCCCAAACTTACAGCTTCTGAGTGCATGAGAAGAAAACTGGGTTGGTAAGTGCTGAGCTAGTTTTTTTCAACATGTAGTCTTGCACCTCCATCTGAATAGCTTGCAGTTATTTCTAAATACAATATAAAAAAGCATGGGCCCCAGAACCTCTAGGGGTAGGGCCCAGGAAACTACATTTTAAACGAGTTCCTCAAGTGATTTTCCTACTTGCTAAAGTCTAAAAATCACTGTAAGGACATTTCAAGTAGAGGGATCGC... | pathogenic | 251,734 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 53657612, gene RPGRIP1L (RPGRIP1 like): what disease(s) if pathogenic? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome'] | TGAAGAACACTTATATGCTCCCCAAACTTACAGCTTCTGAGTGCATGAGAAGAAAACTGGGTTGGTAAGTGCTGAGCTAGTTTTTTTCAACATGTAGTCTTGCACCTCCATCTGAATAGCTTGCAGTTATTTCTAAATACAATATAAAAAAGCATGGGCCCCAGAACCTCTAGGGGTAGGGCCCAGGAAACTACATTTTAAACGAGTTCCTCAAGTGATTTTCCTACTTGCTAAAGTCTAAAAATCACTGTAAGGACATTTCAAGTAGAGGGATCGCTAGGAATAATTAGAACCAGCTTCCTAGCACAGGTGAGTATTAT... | TGAAGAACACTTATATGCTCCCCAAACTTACAGCTTCTGAGTGCATGAGAAGAAAACTGGGTTGGTAAGTGCTGAGCTAGTTTTTTTCAACATGTAGTCTTGCACCTCCATCTGAATAGCTTGCAGTTATTTCTAAATACAATATAAAAAAGCATGGGCCCCAGAACCTCTAGGGGTAGGGCCCAGGAAACTACATTTTAAACGAGTTCCTCAAGTGATTTTCCTACTTGCTAAAGTCTAAAAATCACTGTAAGGACATTTCAAGTAGAGGGATCGCTAGGAATAATTAGAACCAGCTTCCTAGCACAGGTGAGTATTAT... | pathogenic | 251,735 |
Is chromosome 16, position 53658792, gene RPGRIP1L (RPGRIP1 like) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5'] | TATGCTTGGCAATATTCACAAATCAGAAGAAAGATAAAACTCCAGATTCCCTTTTATGGAGATGTGTTTTCATTTTGTTAAAAGCTAAGACAATACAGTTATGGCATGACTTCAGGATAACTATAACTCACTCGCAGAATGTGCTAAAGCTAACAAAGGTGATTTCATTGCCACTACTCATTCCCTAAAATCAGGGACTTTAAAAACATTATTTGTGGCAGGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGAGTTAGAGACCAGTCTGGCTAACATGGTGA... | TATGCTTGGCAATATTCACAAATCAGAAGAAAGATAAAACTCCAGATTCCCTTTTATGGAGATGTGTTTTCATTTTGTTAAAAGCTAAGACAATACAGTTATGGCATGACTTCAGGATAACTATAACTCACTCGCAGAATGTGCTAAAGCTAACAAAGGTGATTTCATTGCCACTACTCATTCCCTAAAATCAGGGACTTTAAAAACATTATTTGTGGCAGGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGAGTTAGAGACCAGTCTGGCTAACATGGTGA... | pathogenic | 251,741 |
Is chromosome 16, position 53658792, gene RPGRIP1L (RPGRIP1 like) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5'] | TATGCTTGGCAATATTCACAAATCAGAAGAAAGATAAAACTCCAGATTCCCTTTTATGGAGATGTGTTTTCATTTTGTTAAAAGCTAAGACAATACAGTTATGGCATGACTTCAGGATAACTATAACTCACTCGCAGAATGTGCTAAAGCTAACAAAGGTGATTTCATTGCCACTACTCATTCCCTAAAATCAGGGACTTTAAAAACATTATTTGTGGCAGGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGAGTTAGAGACCAGTCTGGCTAACATGGTGA... | TATGCTTGGCAATATTCACAAATCAGAAGAAAGATAAAACTCCAGATTCCCTTTTATGGAGATGTGTTTTCATTTTGTTAAAAGCTAAGACAATACAGTTATGGCATGACTTCAGGATAACTATAACTCACTCGCAGAATGTGCTAAAGCTAACAAAGGTGATTTCATTGCCACTACTCATTCCCTAAAATCAGGGACTTTAAAAACATTATTTGTGGCAGGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGAGTTAGAGACCAGTCTGGCTAACATGGTGA... | pathogenic | 251,742 |
Mutation found at chromosome 16 position 53658830, gene RPGRIP1L (RPGRIP1 like): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5'] | ACTCCAGATTCCCTTTTATGGAGATGTGTTTTCATTTTGTTAAAAGCTAAGACAATACAGTTATGGCATGACTTCAGGATAACTATAACTCACTCGCAGAATGTGCTAAAGCTAACAAAGGTGATTTCATTGCCACTACTCATTCCCTAAAATCAGGGACTTTAAAAACATTATTTGTGGCAGGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGAGTTAGAGACCAGTCTGGCTAACATGGTGAATCCCCATCTCTACTAAAAATATAAAAATTAGCTGGGC... | ACTCCAGATTCCCTTTTATGGAGATGTGTTTTCATTTTGTTAAAAGCTAAGACAATACAGTTATGGCATGACTTCAGGATAACTATAACTCACTCGCAGAATGTGCTAAAGCTAACAAAGGTGATTTCATTGCCACTACTCATTCCCTAAAATCAGGGACTTTAAAAACATTATTTGTGGCAGGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGAGTTAGAGACCAGTCTGGCTAACATGGTGAATCCCCATCTCTACTAAAAATATAAAAATTAGCTGGGC... | pathogenic | 251,743 |
Variant in RPGRIP1L (RPGRIP1 like), chromosome 16, position 53664980—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome'] | ATGGTACATACACACACTGGAAAACTGTAACAGCCATTATAAATGATTGTGATGTAGATTTATATTAAGGAATGATTTTACAATATAGCAAAAAAAGCACATTGTAAAACTACATCTATCATTTAGAAATAACTCTGAAAGGACATAAATCAAATATTAGCAGTGATTATTTTGCTAATATTTTGTGGGTTGTGGGATTGATTTTTCTAATTTACATACTGGACTTTTTCATAATGTACATGAGTTATGTTTATTATTAAAAAAAATTCCCAAATGATAAAAAAGCCACTAAAAAAGATGAGGAATAAATTAGATAAATT... | ATGGTACATACACACACTGGAAAACTGTAACAGCCATTATAAATGATTGTGATGTAGATTTATATTAAGGAATGATTTTACAATATAGCAAAAAAAGCACATTGTAAAACTACATCTATCATTTAGAAATAACTCTGAAAGGACATAAATCAAATATTAGCAGTGATTATTTTGCTAATATTTTGTGGGTTGTGGGATTGATTTTTCTAATTTACATACTGGACTTTTTCATAATGTACATGAGTTATGTTTATTATTAAAAAAAATTCCCAAATGATAAAAAAGCCACTAAAAAAGATGAGGAATAAATTAGATAAATT... | pathogenic | 251,750 |
Assess the variant on chromosome 16, position 53672911, impacting RPGRIP1L (RPGRIP1 like): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5'] | GGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGATCAGCCTGAGCAACATAGAAAGAACTCGTCACTACCAAAAAATTAAAAAAATTAGTCTGACATGGTGGCATGTGCCTGTGGTCCCAGTTGCTCAGGCTGCTGAGGTGGGAGGATTGTTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCTTGGGTGACTGAGACACTGTCTCAAAAAAAAGAGGTGGGAAGTGCCTCTTAATGTTACTTAATTTTGCTTCATCTTCCTTGTCTGCAAAATGGGAATTTGTAATACATACATT... | GGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGATCAGCCTGAGCAACATAGAAAGAACTCGTCACTACCAAAAAATTAAAAAAATTAGTCTGACATGGTGGCATGTGCCTGTGGTCCCAGTTGCTCAGGCTGCTGAGGTGGGAGGATTGTTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCTTGGGTGACTGAGACACTGTCTCAAAAAAAAGAGGTGGGAAGTGCCTCTTAATGTTACTTAATTTTGCTTCATCTTCCTTGTCTGCAAAATGGGAATTTGTAATACATACATT... | pathogenic | 251,758 |
Is the genetic variant on chromosome 16, position 53672926, gene RPGRIP1L (RPGRIP1 like), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5', 'RPGRIP1L-related_disorder'] | TGAGCCCAGGAGTTCAAGATCAGCCTGAGCAACATAGAAAGAACTCGTCACTACCAAAAAATTAAAAAAATTAGTCTGACATGGTGGCATGTGCCTGTGGTCCCAGTTGCTCAGGCTGCTGAGGTGGGAGGATTGTTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCTTGGGTGACTGAGACACTGTCTCAAAAAAAAGAGGTGGGAAGTGCCTCTTAATGTTACTTAATTTTGCTTCATCTTCCTTGTCTGCAAAATGGGAATTTGTAATACATACATTTCAGGGTGCTGTGAA... | TGAGCCCAGGAGTTCAAGATCAGCCTGAGCAACATAGAAAGAACTCGTCACTACCAAAAAATTAAAAAAATTAGTCTGACATGGTGGCATGTGCCTGTGGTCCCAGTTGCTCAGGCTGCTGAGGTGGGAGGATTGTTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCTTGGGTGACTGAGACACTGTCTCAAAAAAAAGAGGTGGGAAGTGCCTCTTAATGTTACTTAATTTTGCTTCATCTTCCTTGTCTGCAAAATGGGAATTTGTAATACATACATTTCAGGGTGCTGTGAA... | pathogenic | 251,759 |
Is the variant located on chromosome 16 at position 53673045, gene RPGRIP1L (RPGRIP1 like), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TGAGGTGGGAGGATTGTTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCTTGGGTGACTGAGACACTGTCTCAAAAAAAAGAGGTGGGAAGTGCCTCTTAATGTTACTTAATTTTGCTTCATCTTCCTTGTCTGCAAAATGGGAATTTGTAATACATACATTTCAGGGTGCTGTGAACAATTTATAACAATAAATGTAGAGTATCTAGCATGGTGTCTGTTAGTTTATAGTTAGTGTTCAATAAATGATAGCAGTTTACTGGCAACAAAGTGATATGGTTTTCTTAGTAGTGATAG... | TGAGGTGGGAGGATTGTTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCTTGGGTGACTGAGACACTGTCTCAAAAAAAAGAGGTGGGAAGTGCCTCTTAATGTTACTTAATTTTGCTTCATCTTCCTTGTCTGCAAAATGGGAATTTGTAATACATACATTTCAGGGTGCTGTGAACAATTTATAACAATAAATGTAGAGTATCTAGCATGGTGTCTGTTAGTTTATAGTTAGTGTTCAATAAATGATAGCAGTTTACTGGCAACAAAGTGATATGGTTTTCTTAGTAGTGATAG... | benign | 251,760 |
Classify the chromosome 16 variant at position 53687846 affecting gene RPGRIP1L (RPGRIP1 like) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | AAACCACCATGGTACACATTTATCTATGTAACAAACCTACACATCCTGTACATGTACCCCTGAACTTAAAAGTTGGAAATTATAACAAAAAAAGTTTTTTAATGTCATAGATGAAAAGGCAGCAAGGAGACTATCTACAGGACCAACTGTAATCTTATCACAGCCAACAGATTGCAATCCAAACTTGGAATATTAGGGATCTTTTTGGGATTACAAACTGGTACCATATTATGGAATTTACTATCTTTTAAGGTTGAAAAAAGTAATGCTGGACTTATGTACAAGATATGCCAACAGTTGAGTTCTTGTCACCCATATTT... | AAACCACCATGGTACACATTTATCTATGTAACAAACCTACACATCCTGTACATGTACCCCTGAACTTAAAAGTTGGAAATTATAACAAAAAAAGTTTTTTAATGTCATAGATGAAAAGGCAGCAAGGAGACTATCTACAGGACCAACTGTAATCTTATCACAGCCAACAGATTGCAATCCAAACTTGGAATATTAGGGATCTTTTTGGGATTACAAACTGGTACCATATTATGGAATTTACTATCTTTTAAGGTTGAAAAAAGTAATGCTGGACTTATGTACAAGATATGCCAACAGTTGAGTTCTTGTCACCCATATTT... | benign | 251,773 |
The chromosome 16, position 53700652 genetic variant in gene RPGRIP1L (RPGRIP1 like): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['COACH_syndrome_3', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_7', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_5', 'RPGRIP1L-related_disorder'] | GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCACCGCCCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAATGGGCCATGATGACA... | GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCACCGCCCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAATGGGCCATGATGACA... | pathogenic | 251,791 |
For chromosome 16, position 53700657, gene RPGRIP1L (RPGRIP1 like): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Ciliopathy', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome'] | CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCACCGCCCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAATGGGCCATGATGACAATGGT... | CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCACCGCCCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAATGGGCCATGATGACAATGGT... | pathogenic | 251,792 |
A mutation at chromosome position 56355010 on chromosome 16 in gene GNAO1 (G protein subunit alpha o1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | CACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCT... | CACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCT... | pathogenic | 251,968 |
Does the variant impacting BBS2 (Bardet-Biedl syndrome 2) on chromosome 16, position 56485576, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AAATCCTTACATAATAAATGAAAAATGAGTCATTATGATTTTGAGGTCTATTTGTTACAGCAGCTAACATTAGCCCAACAAAGTAATCACTCTAAATTGACTCTTCCTTAATGTAAATTTGTTGTTTGCACCCATCTTTCAGTGATTAAAAAGCACACAAATCCAAATATCCACATTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGCATAGCTGGGATTGTAGGTGTC... | AAATCCTTACATAATAAATGAAAAATGAGTCATTATGATTTTGAGGTCTATTTGTTACAGCAGCTAACATTAGCCCAACAAAGTAATCACTCTAAATTGACTCTTCCTTAATGTAAATTTGTTGTTTGCACCCATCTTTCAGTGATTAAAAAGCACACAAATCCAAATATCCACATTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGCATAGCTGGGATTGTAGGTGTC... | benign | 251,976 |
Gene BBS2 (Bardet-Biedl syndrome 2) variant at chromosome 16, position 56485662—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2', 'Retinitis_pigmentosa_74'] | TCACTCTAAATTGACTCTTCCTTAATGTAAATTTGTTGTTTGCACCCATCTTTCAGTGATTAAAAAGCACACAAATCCAAATATCCACATTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGCATAGCTGGGATTGTAGGTGTCCACCACCAAACCTGGCTAATTTTTTGTATTTTTAGTAGAGACCAGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCT... | TCACTCTAAATTGACTCTTCCTTAATGTAAATTTGTTGTTTGCACCCATCTTTCAGTGATTAAAAAGCACACAAATCCAAATATCCACATTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGCATAGCTGGGATTGTAGGTGTCCACCACCAAACCTGGCTAATTTTTTGTATTTTTAGTAGAGACCAGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCT... | pathogenic | 251,978 |
Variant at chromosome position 56485696, chromosome 16, gene BBS2 (Bardet-Biedl syndrome 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2'] | GTTGTTTGCACCCATCTTTCAGTGATTAAAAAGCACACAAATCCAAATATCCACATTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGCATAGCTGGGATTGTAGGTGTCCACCACCAAACCTGGCTAATTTTTTGTATTTTTAGTAGAGACCAGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGGGATCCACCCGCCTTGGCCTCCCAAAGTGC... | GTTGTTTGCACCCATCTTTCAGTGATTAAAAAGCACACAAATCCAAATATCCACATTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGCATAGCTGGGATTGTAGGTGTCCACCACCAAACCTGGCTAATTTTTTGTATTTTTAGTAGAGACCAGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGGGATCCACCCGCCTTGGCCTCCCAAAGTGC... | pathogenic | 251,980 |
Regarding the variant at chromosome 16 and position 56485717, affecting gene BBS2 (Bardet-Biedl syndrome 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2', 'Retinitis_pigmentosa_74'] | GTGATTAAAAAGCACACAAATCCAAATATCCACATTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGCATAGCTGGGATTGTAGGTGTCCACCACCAAACCTGGCTAATTTTTTGTATTTTTAGTAGAGACCAGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGGGATCCACCCGCCTTGGCCTCCCAAAGTGCTAGGATTATAGGTGTGAGCCA... | GTGATTAAAAAGCACACAAATCCAAATATCCACATTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGCATAGCTGGGATTGTAGGTGTCCACCACCAAACCTGGCTAATTTTTTGTATTTTTAGTAGAGACCAGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGGGATCCACCCGCCTTGGCCTCCCAAAGTGCTAGGATTATAGGTGTGAGCCA... | pathogenic | 251,981 |
Evaluate if the mutation on chromosome 16 at position 56496966 in BBS2 (Bardet-Biedl syndrome 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2', 'Retinal_dystrophy'] | CACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGA... | CACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGA... | pathogenic | 251,984 |
Mutation at chromosome 16, position 56497033, within BBS2 (Bardet-Biedl syndrome 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2'] | ATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCT... | ATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCT... | pathogenic | 251,988 |
Located at chromosome 16 position 56497067, the variant affecting gene BBS2 (Bardet-Biedl syndrome 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome'] | ACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGC... | ACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGC... | pathogenic | 251,990 |
Does the chromosome 16 mutation at position 56497769 within gene BBS2 (Bardet-Biedl syndrome 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['BBS2-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2'] | TAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATT... | TAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATT... | pathogenic | 251,994 |
Variant at chromosome position 56497774, chromosome 16, gene BBS2 (Bardet-Biedl syndrome 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2'] | GTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAA... | GTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAA... | pathogenic | 251,995 |
A mutation at chromosome position 56498445 on chromosome 16 in gene BBS2 (Bardet-Biedl syndrome 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2', 'Retinitis_pigmentosa_74'] | AGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAA... | AGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAA... | pathogenic | 251,998 |
Determine if the mutation at chromosome 16, position 56499815 in gene BBS2 (Bardet-Biedl syndrome 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2'] | CTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTA... | CTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTA... | pathogenic | 252,004 |
Considering the genetic mutation at chromosome 16, position 56500879, impacting BBS2 (Bardet-Biedl syndrome 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['BBS2-related_disorder', 'Bardet-Biedl_syndrome'] | GACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATCCACACAATAAGGAAAATATAAGTTTTAATGTTAATAGCAGTAACACCATGCAGTGGCTTGCAACACAGGTTCCACATGAGAACCACCCATGAGGCCTTCTGGAAGGGCCCACCTATAGAGT... | GACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATCCACACAATAAGGAAAATATAAGTTTTAATGTTAATAGCAGTAACACCATGCAGTGGCTTGCAACACAGGTTCCACATGAGAACCACCCATGAGGCCTTCTGGAAGGGCCCACCTATAGAGT... | pathogenic | 252,010 |
Determine if the mutation at chromosome 16, position 56500906 in gene BBS2 (Bardet-Biedl syndrome 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2'] | AGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATCCACACAATAAGGAAAATATAAGTTTTAATGTTAATAGCAGTAACACCATGCAGTGGCTTGCAACACAGGTTCCACATGAGAACCACCCATGAGGCCTTCTGGAAGGGCCCACCTATAGAGTCTGTGGTTCCACAGGCCAGGCAGGGGC... | AGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATCCACACAATAAGGAAAATATAAGTTTTAATGTTAATAGCAGTAACACCATGCAGTGGCTTGCAACACAGGTTCCACATGAGAACCACCCATGAGGCCTTCTGGAAGGGCCCACCTATAGAGTCTGTGGTTCCACAGGCCAGGCAGGGGC... | pathogenic | 252,011 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 56500981, gene BBS2 (Bardet-Biedl syndrome 2): what disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_2', 'Retinitis_pigmentosa_74'] | GTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATCCACACAATAAGGAAAATATAAGTTTTAATGTTAATAGCAGTAACACCATGCAGTGGCTTGCAACACAGGTTCCACATGAGAACCACCCATGAGGCCTTCTGGAAGGGCCCACCTATAGAGTCTGTGGTTCCACAGGCCAGGCAGGGGCCTGAGAATCTACATGATTAAAAAGTCCCACCAAGAATTCCAAAGCCCAGCCAAGGTTAAAGTCCACTGGTATTAG... | GTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATCCACACAATAAGGAAAATATAAGTTTTAATGTTAATAGCAGTAACACCATGCAGTGGCTTGCAACACAGGTTCCACATGAGAACCACCCATGAGGCCTTCTGGAAGGGCCCACCTATAGAGTCTGTGGTTCCACAGGCCAGGCAGGGGCCTGAGAATCTACATGATTAAAAAGTCCCACCAAGAATTCCAAAGCCCAGCCAAGGTTAAAGTCCACTGGTATTAG... | pathogenic | 252,012 |
Chromosome 16, position 56501371, gene BBS2 (Bardet-Biedl syndrome 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2'] | TAAGATTATCCTTACTTATTAGATAAGAAAACTGAGGCTCACACTGGTGAGGGGACTTCCCCAAGATCACTAAGAATTTAATGAGTTAACGTAGCACTTAAAGCCAAAAACGTTCTTAGCTCCAAGTCCCACTCTCTTTTCATCTTGCTGCAGGTTCCTCTTGAAATACTACACCAGGACAACCACACTAAGACCATAACGGAAAGAGAGGAATTAAACACTGGTAAGAATTCACCAATAACTGAGGATTGCTCAGATGCTTTTTCAAAGTGAGAGAAGGTATTTTAGCAATATTTTTATTACAGGTTACAAGCCACCCC... | TAAGATTATCCTTACTTATTAGATAAGAAAACTGAGGCTCACACTGGTGAGGGGACTTCCCCAAGATCACTAAGAATTTAATGAGTTAACGTAGCACTTAAAGCCAAAAACGTTCTTAGCTCCAAGTCCCACTCTCTTTTCATCTTGCTGCAGGTTCCTCTTGAAATACTACACCAGGACAACCACACTAAGACCATAACGGAAAGAGAGGAATTAAACACTGGTAAGAATTCACCAATAACTGAGGATTGCTCAGATGCTTTTTCAAAGTGAGAGAAGGTATTTTAGCAATATTTTTATTACAGGTTACAAGCCACCCC... | pathogenic | 252,017 |
Variant at chromosome 16, position 56501408, gene BBS2 (Bardet-Biedl syndrome 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2'] | CTCACACTGGTGAGGGGACTTCCCCAAGATCACTAAGAATTTAATGAGTTAACGTAGCACTTAAAGCCAAAAACGTTCTTAGCTCCAAGTCCCACTCTCTTTTCATCTTGCTGCAGGTTCCTCTTGAAATACTACACCAGGACAACCACACTAAGACCATAACGGAAAGAGAGGAATTAAACACTGGTAAGAATTCACCAATAACTGAGGATTGCTCAGATGCTTTTTCAAAGTGAGAGAAGGTATTTTAGCAATATTTTTATTACAGGTTACAAGCCACCCCCAAGTTAGAGAATTCTTTCATATCATATTTACTGCTA... | CTCACACTGGTGAGGGGACTTCCCCAAGATCACTAAGAATTTAATGAGTTAACGTAGCACTTAAAGCCAAAAACGTTCTTAGCTCCAAGTCCCACTCTCTTTTCATCTTGCTGCAGGTTCCTCTTGAAATACTACACCAGGACAACCACACTAAGACCATAACGGAAAGAGAGGAATTAAACACTGGTAAGAATTCACCAATAACTGAGGATTGCTCAGATGCTTTTTCAAAGTGAGAGAAGGTATTTTAGCAATATTTTTATTACAGGTTACAAGCCACCCCCAAGTTAGAGAATTCTTTCATATCATATTTACTGCTA... | pathogenic | 252,018 |
The genetic variant at chromosome 16, position 56501465, affecting gene BBS2 (Bardet-Biedl syndrome 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2', 'Retinitis_pigmentosa_74'] | CACTTAAAGCCAAAAACGTTCTTAGCTCCAAGTCCCACTCTCTTTTCATCTTGCTGCAGGTTCCTCTTGAAATACTACACCAGGACAACCACACTAAGACCATAACGGAAAGAGAGGAATTAAACACTGGTAAGAATTCACCAATAACTGAGGATTGCTCAGATGCTTTTTCAAAGTGAGAGAAGGTATTTTAGCAATATTTTTATTACAGGTTACAAGCCACCCCCAAGTTAGAGAATTCTTTCATATCATATTTACTGCTACCAATATAACACATTAATGTAATTTTCCCTTTCTATGAAATAACATCTAAAGGATTC... | CACTTAAAGCCAAAAACGTTCTTAGCTCCAAGTCCCACTCTCTTTTCATCTTGCTGCAGGTTCCTCTTGAAATACTACACCAGGACAACCACACTAAGACCATAACGGAAAGAGAGGAATTAAACACTGGTAAGAATTCACCAATAACTGAGGATTGCTCAGATGCTTTTTCAAAGTGAGAGAAGGTATTTTAGCAATATTTTTATTACAGGTTACAAGCCACCCCCAAGTTAGAGAATTCTTTCATATCATATTTACTGCTACCAATATAACACATTAATGTAATTTTCCCTTTCTATGAAATAACATCTAAAGGATTC... | pathogenic | 252,021 |
Does the variant impacting BBS2 (Bardet-Biedl syndrome 2) on chromosome 16, position 56501478, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bardet-Biedl_syndrome_2'] | AAACGTTCTTAGCTCCAAGTCCCACTCTCTTTTCATCTTGCTGCAGGTTCCTCTTGAAATACTACACCAGGACAACCACACTAAGACCATAACGGAAAGAGAGGAATTAAACACTGGTAAGAATTCACCAATAACTGAGGATTGCTCAGATGCTTTTTCAAAGTGAGAGAAGGTATTTTAGCAATATTTTTATTACAGGTTACAAGCCACCCCCAAGTTAGAGAATTCTTTCATATCATATTTACTGCTACCAATATAACACATTAATGTAATTTTCCCTTTCTATGAAATAACATCTAAAGGATTCTACTGTGTAAAAG... | AAACGTTCTTAGCTCCAAGTCCCACTCTCTTTTCATCTTGCTGCAGGTTCCTCTTGAAATACTACACCAGGACAACCACACTAAGACCATAACGGAAAGAGAGGAATTAAACACTGGTAAGAATTCACCAATAACTGAGGATTGCTCAGATGCTTTTTCAAAGTGAGAGAAGGTATTTTAGCAATATTTTTATTACAGGTTACAAGCCACCCCCAAGTTAGAGAATTCTTTCATATCATATTTACTGCTACCAATATAACACATTAATGTAATTTTCCCTTTCTATGAAATAACATCTAAAGGATTCTACTGTGTAAAAG... | pathogenic | 252,023 |
The genetic variant at chromosome 16, position 56502671, affecting gene BBS2 (Bardet-Biedl syndrome 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['BBS2-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2', 'Retinitis_pigmentosa_74'] | TCAAAAAAAAAAAAAAAAAAAGAACCATCTTAAACTTACATATCAGTTTTTCCATTTTCTTTTTACAGGTTTCAAACTGAGGAAATAAAAGGTCATGAGAAACTTTGGGTAGACAGAACCATTAAATGGTTTCTCAGGCCCCCAAGAATCCACTGGGCATATGGAAAATTTATACATCTTGCCCTCCTCTAAGTGCTGTCCTGAAATGAACTGTGACTTGCAAAGGGTCACCTGCTTCTGTAACCCACGAATGCCTTCAAGTGCAGATCCACAGGGACATCTTTGGGAGGCACAATAGGGATGCAGATGGAACTGGAGAG... | TCAAAAAAAAAAAAAAAAAAAGAACCATCTTAAACTTACATATCAGTTTTTCCATTTTCTTTTTACAGGTTTCAAACTGAGGAAATAAAAGGTCATGAGAAACTTTGGGTAGACAGAACCATTAAATGGTTTCTCAGGCCCCCAAGAATCCACTGGGCATATGGAAAATTTATACATCTTGCCCTCCTCTAAGTGCTGTCCTGAAATGAACTGTGACTTGCAAAGGGTCACCTGCTTCTGTAACCCACGAATGCCTTCAAGTGCAGATCCACAGGGACATCTTTGGGAGGCACAATAGGGATGCAGATGGAACTGGAGAG... | pathogenic | 252,042 |
Does the variant impacting BBS2 (Bardet-Biedl syndrome 2) on chromosome 16, position 56502756, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bardet-Biedl_syndrome_2', 'Retinitis_pigmentosa_74'] | TAAAAGGTCATGAGAAACTTTGGGTAGACAGAACCATTAAATGGTTTCTCAGGCCCCCAAGAATCCACTGGGCATATGGAAAATTTATACATCTTGCCCTCCTCTAAGTGCTGTCCTGAAATGAACTGTGACTTGCAAAGGGTCACCTGCTTCTGTAACCCACGAATGCCTTCAAGTGCAGATCCACAGGGACATCTTTGGGAGGCACAATAGGGATGCAGATGGAACTGGAGAGGTTGTGAATGCTGGGATGTACCACGTGGCTTTCACCTGTAAAAATTCCTTCTGCAAAAATCAATACTGCTCGGATGATGGTGTCT... | TAAAAGGTCATGAGAAACTTTGGGTAGACAGAACCATTAAATGGTTTCTCAGGCCCCCAAGAATCCACTGGGCATATGGAAAATTTATACATCTTGCCCTCCTCTAAGTGCTGTCCTGAAATGAACTGTGACTTGCAAAGGGTCACCTGCTTCTGTAACCCACGAATGCCTTCAAGTGCAGATCCACAGGGACATCTTTGGGAGGCACAATAGGGATGCAGATGGAACTGGAGAGGTTGTGAATGCTGGGATGTACCACGTGGCTTTCACCTGTAAAAATTCCTTCTGCAAAAATCAATACTGCTCGGATGATGGTGTCT... | pathogenic | 252,047 |
Variant at chromosome 16, position 56505935, gene BBS2 (Bardet-Biedl syndrome 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Bardet-Biedl_syndrome'] | CCAGCCTGGGTGACAAAGCGAGACTCCAGTCTCAAAAAAAAAAAAAAAGATGATTATGTTCCAGGCAAGGACACAGGTATTATCAACAAAAGGCTAGCTACAGAAAATCTAGCATAGCAATCATTTCGATGACCAATGCTACTCACTAGTTTTGTCTTTTCATAAACAATCTTCTGGGCAAAACTTTGCAACCAAAACATAAAGTAATTTAGGTTACAGCCTACCCCTTGTCTACAGTATATCACTGTCAAGTATTAATGCTATTAATAACATCATGGAAGCCTGAAAATTATGAATGCTAAAGCCTGTGAAAGAACGAA... | CCAGCCTGGGTGACAAAGCGAGACTCCAGTCTCAAAAAAAAAAAAAAAGATGATTATGTTCCAGGCAAGGACACAGGTATTATCAACAAAAGGCTAGCTACAGAAAATCTAGCATAGCAATCATTTCGATGACCAATGCTACTCACTAGTTTTGTCTTTTCATAAACAATCTTCTGGGCAAAACTTTGCAACCAAAACATAAAGTAATTTAGGTTACAGCCTACCCCTTGTCTACAGTATATCACTGTCAAGTATTAATGCTATTAATAACATCATGGAAGCCTGAAAATTATGAATGCTAAAGCCTGTGAAAGAACGAA... | pathogenic | 252,051 |
Variant at chromosome 16, position 56505979, gene BBS2 (Bardet-Biedl syndrome 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2', 'Retinitis_pigmentosa_74'] | AAAAGATGATTATGTTCCAGGCAAGGACACAGGTATTATCAACAAAAGGCTAGCTACAGAAAATCTAGCATAGCAATCATTTCGATGACCAATGCTACTCACTAGTTTTGTCTTTTCATAAACAATCTTCTGGGCAAAACTTTGCAACCAAAACATAAAGTAATTTAGGTTACAGCCTACCCCTTGTCTACAGTATATCACTGTCAAGTATTAATGCTATTAATAACATCATGGAAGCCTGAAAATTATGAATGCTAAAGCCTGTGAAAGAACGAATGACCTGCATTTTTAACAAAGCACATTAATGTAGCCCTCTAACT... | AAAAGATGATTATGTTCCAGGCAAGGACACAGGTATTATCAACAAAAGGCTAGCTACAGAAAATCTAGCATAGCAATCATTTCGATGACCAATGCTACTCACTAGTTTTGTCTTTTCATAAACAATCTTCTGGGCAAAACTTTGCAACCAAAACATAAAGTAATTTAGGTTACAGCCTACCCCTTGTCTACAGTATATCACTGTCAAGTATTAATGCTATTAATAACATCATGGAAGCCTGAAAATTATGAATGCTAAAGCCTGTGAAAGAACGAATGACCTGCATTTTTAACAAAGCACATTAATGTAGCCCTCTAACT... | pathogenic | 252,053 |
Located at chromosome 16 position 56506175, the variant affecting gene BBS2 (Bardet-Biedl syndrome 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2', 'Inborn_genetic_diseases', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_74'] | ATCACTGTCAAGTATTAATGCTATTAATAACATCATGGAAGCCTGAAAATTATGAATGCTAAAGCCTGTGAAAGAACGAATGACCTGCATTTTTAACAAAGCACATTAATGTAGCCCTCTAACTCAGACTGACCTGAACTTGCTTCTTTCTAGTTAAAGCCTAGCTACCTAATGGCTTCTACCACTGCATTTCCACAATATTTAGCAAATAAGAAGGCTCATTTGCTAACTAAGAAGCAGGACTACAAATTAATATTTCTGTGGATATTCTGATCTTTTGCTTAATCCAACTGGGAGGTTTTACCCTGAAAGGAAAGGAT... | ATCACTGTCAAGTATTAATGCTATTAATAACATCATGGAAGCCTGAAAATTATGAATGCTAAAGCCTGTGAAAGAACGAATGACCTGCATTTTTAACAAAGCACATTAATGTAGCCCTCTAACTCAGACTGACCTGAACTTGCTTCTTTCTAGTTAAAGCCTAGCTACCTAATGGCTTCTACCACTGCATTTCCACAATATTTAGCAAATAAGAAGGCTCATTTGCTAACTAAGAAGCAGGACTACAAATTAATATTTCTGTGGATATTCTGATCTTTTGCTTAATCCAACTGGGAGGTTTTACCCTGAAAGGAAAGGAT... | pathogenic | 252,061 |
For chromosome 16, position 56506208, gene BBS2 (Bardet-Biedl syndrome 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2'] | CATGGAAGCCTGAAAATTATGAATGCTAAAGCCTGTGAAAGAACGAATGACCTGCATTTTTAACAAAGCACATTAATGTAGCCCTCTAACTCAGACTGACCTGAACTTGCTTCTTTCTAGTTAAAGCCTAGCTACCTAATGGCTTCTACCACTGCATTTCCACAATATTTAGCAAATAAGAAGGCTCATTTGCTAACTAAGAAGCAGGACTACAAATTAATATTTCTGTGGATATTCTGATCTTTTGCTTAATCCAACTGGGAGGTTTTACCCTGAAAGGAAAGGATGGCCCTCCAACTCATCAAATGACATACAAAAGA... | CATGGAAGCCTGAAAATTATGAATGCTAAAGCCTGTGAAAGAACGAATGACCTGCATTTTTAACAAAGCACATTAATGTAGCCCTCTAACTCAGACTGACCTGAACTTGCTTCTTTCTAGTTAAAGCCTAGCTACCTAATGGCTTCTACCACTGCATTTCCACAATATTTAGCAAATAAGAAGGCTCATTTGCTAACTAAGAAGCAGGACTACAAATTAATATTTCTGTGGATATTCTGATCTTTTGCTTAATCCAACTGGGAGGTTTTACCCTGAAAGGAAAGGATGGCCCTCCAACTCATCAAATGACATACAAAAGA... | pathogenic | 252,063 |
Mutation at chromosome 16, position 56510005, within BBS2 (Bardet-Biedl syndrome 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['BBS2-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2', 'Retinal_dystrophy', 'Retinitis_pigmentosa_74'] | AAACTCCATCTCAAAAAAATAATAAAATAAAAAACAGACTCCCTGTATAAACACACATCCTCAGACTGCTCCTTTTGGCACCCATTTCTCCTCTTCATTTCTTCTCTGTCCACAACTATCATCTTACATCATGATAACTGTGAATATATAAAAAGTATAGTAGGACTAAATAAAAACTGATGACTCTTGCTATAGGATAACTTAGTTAAAATCATTGGTAGCACTGTATGTCAATGTGTAGGTTTTGCTTTTTGTCTCCTTTTATAGTTAGGAGAAAAGAAGTCTGACCTTCTTAGGCAGCTTTTATGAGTGACATGAAG... | AAACTCCATCTCAAAAAAATAATAAAATAAAAAACAGACTCCCTGTATAAACACACATCCTCAGACTGCTCCTTTTGGCACCCATTTCTCCTCTTCATTTCTTCTCTGTCCACAACTATCATCTTACATCATGATAACTGTGAATATATAAAAAGTATAGTAGGACTAAATAAAAACTGATGACTCTTGCTATAGGATAACTTAGTTAAAATCATTGGTAGCACTGTATGTCAATGTGTAGGTTTTGCTTTTTGTCTCCTTTTATAGTTAGGAGAAAAGAAGTCTGACCTTCTTAGGCAGCTTTTATGAGTGACATGAAG... | pathogenic | 252,072 |
Variant in gene BBS2 (Bardet-Biedl syndrome 2), located at chromosome 16 position 56510888: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2'] | AGTCTTGTTATGTTGCCCAGGCGGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACTGCACCAGGCCTAAACATCAGGCCTAAACAACCTGGGATATTAAGAAATATCTCAGGTTCAGTTACATGAGTGATTCTAATCACAAGTTCTATAATTTTTAAGTTTACCTACAGAAATGTGCCAAAGAAGTACTGAATTTGCAGGAAGAAAAAAATATAGACATCTCATTTATGCACTTCAGCCCTACTGAATACACATGATGAGGAGGAAGGGGCATAAAG... | AGTCTTGTTATGTTGCCCAGGCGGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACTGCACCAGGCCTAAACATCAGGCCTAAACAACCTGGGATATTAAGAAATATCTCAGGTTCAGTTACATGAGTGATTCTAATCACAAGTTCTATAATTTTTAAGTTTACCTACAGAAATGTGCCAAAGAAGTACTGAATTTGCAGGAAGAAAAAAATATAGACATCTCATTTATGCACTTCAGCCCTACTGAATACACATGATGAGGAGGAAGGGGCATAAAG... | pathogenic | 252,078 |
Does the genetic variant at chromosome 16, position 56510920, impacting gene BBS2 (Bardet-Biedl syndrome 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2', 'Bardet-biedl_syndrome_1/2,_digenic', 'Retinitis_pigmentosa_74'] | CTCCTGGCCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACTGCACCAGGCCTAAACATCAGGCCTAAACAACCTGGGATATTAAGAAATATCTCAGGTTCAGTTACATGAGTGATTCTAATCACAAGTTCTATAATTTTTAAGTTTACCTACAGAAATGTGCCAAAGAAGTACTGAATTTGCAGGAAGAAAAAAATATAGACATCTCATTTATGCACTTCAGCCCTACTGAATACACATGATGAGGAGGAAGGGGCATAAAGGTTCAAATGCTGACCATGCCATTTCATAGCCA... | CTCCTGGCCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACTGCACCAGGCCTAAACATCAGGCCTAAACAACCTGGGATATTAAGAAATATCTCAGGTTCAGTTACATGAGTGATTCTAATCACAAGTTCTATAATTTTTAAGTTTACCTACAGAAATGTGCCAAAGAAGTACTGAATTTGCAGGAAGAAAAAAATATAGACATCTCATTTATGCACTTCAGCCCTACTGAATACACATGATGAGGAGGAAGGGGCATAAAGGTTCAAATGCTGACCATGCCATTTCATAGCCA... | pathogenic | 252,080 |
Evaluate the clinical significance of the mutation at chromosome 16, position 56511189 in gene BBS2 (Bardet-Biedl syndrome 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['BBS2-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2'] | AGGAGGAAGGGGCATAAAGGTTCAAATGCTGACCATGCCATTTCATAGCCAAGACTACGTACAAGTAACTTAACAAAAAATACAGGCGCGGTGGGTCACCCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCTGGAGTTCAACACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAACACAAAAATTACCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCATGCGAATCACTTGAACTTGGGAGGTGGAGCTTGCAGTAAGCCGAGATCGCAC... | AGGAGGAAGGGGCATAAAGGTTCAAATGCTGACCATGCCATTTCATAGCCAAGACTACGTACAAGTAACTTAACAAAAAATACAGGCGCGGTGGGTCACCCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCTGGAGTTCAACACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAACACAAAAATTACCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCATGCGAATCACTTGAACTTGGGAGGTGGAGCTTGCAGTAAGCCGAGATCGCAC... | pathogenic | 252,084 |
Gene BBS2 (Bardet-Biedl syndrome 2) variant at chromosome position 56511192 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2'] | AGGAAGGGGCATAAAGGTTCAAATGCTGACCATGCCATTTCATAGCCAAGACTACGTACAAGTAACTTAACAAAAAATACAGGCGCGGTGGGTCACCCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCTGGAGTTCAACACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAACACAAAAATTACCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCATGCGAATCACTTGAACTTGGGAGGTGGAGCTTGCAGTAAGCCGAGATCGCACCAC... | AGGAAGGGGCATAAAGGTTCAAATGCTGACCATGCCATTTCATAGCCAAGACTACGTACAAGTAACTTAACAAAAAATACAGGCGCGGTGGGTCACCCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCTGGAGTTCAACACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAACACAAAAATTACCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCATGCGAATCACTTGAACTTGGGAGGTGGAGCTTGCAGTAAGCCGAGATCGCACCAC... | pathogenic | 252,085 |
Mutation found at chromosome 16 position 56511223, gene BBS2 (Bardet-Biedl syndrome 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Bardet-Biedl_syndrome_2', 'Retinitis_pigmentosa_74'] | ATGCCATTTCATAGCCAAGACTACGTACAAGTAACTTAACAAAAAATACAGGCGCGGTGGGTCACCCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCTGGAGTTCAACACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAACACAAAAATTACCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCATGCGAATCACTTGAACTTGGGAGGTGGAGCTTGCAGTAAGCCGAGATCGCACCACCGCACTCCAGCCTGGGTGATGGAGTAAAACT... | ATGCCATTTCATAGCCAAGACTACGTACAAGTAACTTAACAAAAAATACAGGCGCGGTGGGTCACCCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCTGGAGTTCAACACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAACACAAAAATTACCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCATGCGAATCACTTGAACTTGGGAGGTGGAGCTTGCAGTAAGCCGAGATCGCACCACCGCACTCCAGCCTGGGTGATGGAGTAAAACT... | pathogenic | 252,086 |
Evaluate if the mutation on chromosome 16 at position 56511227 in BBS2 (Bardet-Biedl syndrome 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2', 'Retinitis_pigmentosa_74'] | CATTTCATAGCCAAGACTACGTACAAGTAACTTAACAAAAAATACAGGCGCGGTGGGTCACCCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCTGGAGTTCAACACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAACACAAAAATTACCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCATGCGAATCACTTGAACTTGGGAGGTGGAGCTTGCAGTAAGCCGAGATCGCACCACCGCACTCCAGCCTGGGTGATGGAGTAAAACTCTGC... | CATTTCATAGCCAAGACTACGTACAAGTAACTTAACAAAAAATACAGGCGCGGTGGGTCACCCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCTGGAGTTCAACACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAACACAAAAATTACCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCATGCGAATCACTTGAACTTGGGAGGTGGAGCTTGCAGTAAGCCGAGATCGCACCACCGCACTCCAGCCTGGGTGATGGAGTAAAACTCTGC... | pathogenic | 252,087 |
Is the genetic mutation found on chromosome 16 at position 56514519, within the gene BBS2 (Bardet-Biedl syndrome 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2'] | CCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTC... | CCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTC... | pathogenic | 252,095 |
Variant in BBS2 (Bardet-Biedl syndrome 2), chromosome 16, position 56514534—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Bardet-Biedl_syndrome_2', 'Retinitis_pigmentosa_74'] | AACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACA... | AACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACA... | pathogenic | 252,097 |
Determine if the mutation at chromosome 16, position 56514542 in gene BBS2 (Bardet-Biedl syndrome 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_2', 'Retinitis_pigmentosa_74'] | ATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCT... | ATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCT... | pathogenic | 252,098 |
A genetic variant on chromosome 16, position 56514613, affects the gene BBS2 (Bardet-Biedl syndrome 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Bardet-Biedl_syndrome_2', 'Retinitis_pigmentosa_74'] | GCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTG... | GCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTG... | pathogenic | 252,104 |
Is the genetic change at chromosome 16, position 56865253, within gene SLC12A3 (solute carrier family 12 member 3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bartter_syndrome', 'Familial_hypokalemia-hypomagnesemia'] | TCTTTCATCCCCTGACAGCTCAAATTTCCACCACTGCCTCCCTGCAATGGCTTAGGCACCTCTGGTAACAAGAGTGCTGCTCCCATGCCACCTGCATGCAAGGTGTGGCCTCAGAGTGCTGGCAAAATCGGGTCCTGATCTGCTCCAGCACTGGTAGGGTGACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCG... | TCTTTCATCCCCTGACAGCTCAAATTTCCACCACTGCCTCCCTGCAATGGCTTAGGCACCTCTGGTAACAAGAGTGCTGCTCCCATGCCACCTGCATGCAAGGTGTGGCCTCAGAGTGCTGGCAAAATCGGGTCCTGATCTGCTCCAGCACTGGTAGGGTGACTGCTCCTATGGGAGCTGGGGTGCCCTGTCTGGGATGGCTTCAGGAGCCAGGAAAGGCGCTGGCTCCCCAAGCTTTATAACCCAATGGCCCTGCAGGCAGGGCCCAGGGAAACATGGCCCACACTTTGGGTGATGCCTAGGGGCCCTGGAGGCCACCG... | pathogenic | 252,164 |
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