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 |
|---|---|---|---|---|---|
Mutation found at chromosome 5 position 16483488, gene RETREG1 (reticulophagy regulator 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GCTCATTTAAGGAAATTAATGCGGCCTGATAACTACATCTGAAAGTTCAAACTACCACTATAAGCCCACTGAAATTCATAAAAACACAGCAAAACAAGTTACAGAAATTAGAGGTATCTACACAAATCTAACGTAATTTACACAAATCTAATGTAATTTATAGCTGCTAAGCTGACAGGATAAATTTATGGCCATCACTATCCTCTTTCCTAACCATATATACTGCTCAAACTGACCCCACTTCTAAGTCACCTAGAAAAAAACTGCCATTGAAATGAAACTCCTACAGTGACATGTTTATTTTCCTTCTGTCATTTATG... | GCTCATTTAAGGAAATTAATGCGGCCTGATAACTACATCTGAAAGTTCAAACTACCACTATAAGCCCACTGAAATTCATAAAAACACAGCAAAACAAGTTACAGAAATTAGAGGTATCTACACAAATCTAACGTAATTTACACAAATCTAATGTAATTTATAGCTGCTAAGCTGACAGGATAAATTTATGGCCATCACTATCCTCTTTCCTAACCATATATACTGCTCAAACTGACCCCACTTCTAAGTCACCTAGAAAAAAACTGCCATTGAAATGAAACTCCTACAGTGACATGTTTATTTTCCTTCTGTCATTTATG... | benign | 91,353 |
Variant at chromosome position 16616900, chromosome 5, gene RETREG1: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases'] | AAATACTAGGAAAAGGAAGAGCTCATATGTTATTCCACAATTTGCATAGAATATGGTGTATTTGCTGAAATGTGCACTATCTGGAAAGAGACACAGGAAACTAGCAACATTGCTGGCCTCCGTGAGGAAACTGGGCGGCCAGGGACTGGGATGAGAAAGAGATTTTCAAAATGCTTACCCTTTTGTACCTTTAAACTTTTGCACTGTGAGACTGTATTAGTTTTTTAAAGAAATAAAATTTAAAATTAAGAAATAAAATGTTAAGGCCGGGCGCAGTAGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGA... | AAATACTAGGAAAAGGAAGAGCTCATATGTTATTCCACAATTTGCATAGAATATGGTGTATTTGCTGAAATGTGCACTATCTGGAAAGAGACACAGGAAACTAGCAACATTGCTGGCCTCCGTGAGGAAACTGGGCGGCCAGGGACTGGGATGAGAAAGAGATTTTCAAAATGCTTACCCTTTTGTACCTTTAAACTTTTGCACTGTGAGACTGTATTAGTTTTTTAAAGAAATAAAATTTAAAATTAAGAAATAAAATGTTAAGGCCGGGCGCAGTAGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGA... | pathogenic | 91,367 |
Is the genetic change at chromosome 5, position 16616952, within gene RETREG1 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Charcot-Marie-Tooth_disease', 'Hereditary_sensory_and_autonomic_neuropathy_type_2', 'Inborn_genetic_diseases', 'Neuropathy,_hereditary_sensory_and_autonomic,_type_2B'] | ATGGTGTATTTGCTGAAATGTGCACTATCTGGAAAGAGACACAGGAAACTAGCAACATTGCTGGCCTCCGTGAGGAAACTGGGCGGCCAGGGACTGGGATGAGAAAGAGATTTTCAAAATGCTTACCCTTTTGTACCTTTAAACTTTTGCACTGTGAGACTGTATTAGTTTTTTAAAGAAATAAAATTTAAAATTAAGAAATAAAATGTTAAGGCCGGGCGCAGTAGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC... | ATGGTGTATTTGCTGAAATGTGCACTATCTGGAAAGAGACACAGGAAACTAGCAACATTGCTGGCCTCCGTGAGGAAACTGGGCGGCCAGGGACTGGGATGAGAAAGAGATTTTCAAAATGCTTACCCTTTTGTACCTTTAAACTTTTGCACTGTGAGACTGTATTAGTTTTTTAAAGAAATAAAATTTAAAATTAAGAAATAAAATGTTAAGGCCGGGCGCAGTAGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGACGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC... | pathogenic | 91,370 |
Clinical classification of chromosome 5, position 33944805, gene SLC45A2 (solute carrier family 45 member 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Oculocutaneous_albinism_type_4'] | AGGACTCTACACTGCCTAGGTAGAGAGAGGAGTGGGGGAAGCAGTGAAGAGGGATGGGCTGTGGATCACATGCCTCCATTCATGTGCCAGACACCAGGCTAAGTGCTGTCCATACAGGAAGCAACGGAACCAAAGTGACTGGGTTCAAAGCCCAGCTCTGTCACTTAAGAATTGTGTGGTTTCAGATAAGTTATATCTTTCTGCCTCCATTTCTTTATCTAAAAAATGGAGAGTGGTAACAGCACCCACTCCCACAATTGCTGTGTTAACGTTAAAGCATTTAGAATAGTGGTAAAGACTCCATAAATGTCATGGTTTGT... | AGGACTCTACACTGCCTAGGTAGAGAGAGGAGTGGGGGAAGCAGTGAAGAGGGATGGGCTGTGGATCACATGCCTCCATTCATGTGCCAGACACCAGGCTAAGTGCTGTCCATACAGGAAGCAACGGAACCAAAGTGACTGGGTTCAAAGCCCAGCTCTGTCACTTAAGAATTGTGTGGTTTCAGATAAGTTATATCTTTCTGCCTCCATTTCTTTATCTAAAAAATGGAGAGTGGTAACAGCACCCACTCCCACAATTGCTGTGTTAACGTTAAAGCATTTAGAATAGTGGTAAAGACTCCATAAATGTCATGGTTTGT... | pathogenic | 91,485 |
Does the variant on chromosome 5 at location 33947257 affecting gene SLC45A2 (solute carrier family 45 member 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Oculocutaneous_albinism_type_4', 'SKIN/HAIR/EYE_PIGMENTATION_5,_BLACK/NONBLACK_HAIR'] | TGAAAGTTTTTTTCAATCATTTAAACAATTAAAAGGAATTCTTAGCTCGCAGACTGTACAAAAACAAGTGGCGGGCCATAATCAATACAATGTAGTGGATACTTAATAAATATCCCATTCTTTTCCTTTCTTAGTGTTAAAAATTCAAAGATTTTAAGAAGGATGTTGAATTGCTGATGTCCTTAAGAGAAGCAACTTTAAAAAGCATTTCAATCTTTCAAAATATGGTTGCTACTTGATTAATATAATAATGTTTGGTTAATACTTGATATTTCTTCCGAACTGGCTGATAACTTTGTCATTTGTTGGGTATCGCTTAT... | TGAAAGTTTTTTTCAATCATTTAAACAATTAAAAGGAATTCTTAGCTCGCAGACTGTACAAAAACAAGTGGCGGGCCATAATCAATACAATGTAGTGGATACTTAATAAATATCCCATTCTTTTCCTTTCTTAGTGTTAAAAATTCAAAGATTTTAAGAAGGATGTTGAATTGCTGATGTCCTTAAGAGAAGCAACTTTAAAAAGCATTTCAATCTTTCAAAATATGGTTGCTACTTGATTAATATAATAATGTTTGGTTAATACTTGATATTTCTTCCGAACTGGCTGATAACTTTGTCATTTGTTGGGTATCGCTTAT... | pathogenic | 91,489 |
For chromosome 5, position 33947363, gene SLC45A2 (solute carrier family 45 member 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Oculocutaneous_albinism_type_4', 'SKIN/HAIR/EYE_PIGMENTATION_5,_BLACK/NONBLACK_HAIR'] | TAAATATCCCATTCTTTTCCTTTCTTAGTGTTAAAAATTCAAAGATTTTAAGAAGGATGTTGAATTGCTGATGTCCTTAAGAGAAGCAACTTTAAAAAGCATTTCAATCTTTCAAAATATGGTTGCTACTTGATTAATATAATAATGTTTGGTTAATACTTGATATTTCTTCCGAACTGGCTGATAACTTTGTCATTTGTTGGGTATCGCTTATGTGCTGGGCCTGGGTTTTTTTTTTACCTGTTACTGTATTTCAACCTCACCACCTCCCTGGATGCACATGTTATTATCATTACCCCCATGGTAACAATTATAATACT... | TAAATATCCCATTCTTTTCCTTTCTTAGTGTTAAAAATTCAAAGATTTTAAGAAGGATGTTGAATTGCTGATGTCCTTAAGAGAAGCAACTTTAAAAAGCATTTCAATCTTTCAAAATATGGTTGCTACTTGATTAATATAATAATGTTTGGTTAATACTTGATATTTCTTCCGAACTGGCTGATAACTTTGTCATTTGTTGGGTATCGCTTATGTGCTGGGCCTGGGTTTTTTTTTTACCTGTTACTGTATTTCAACCTCACCACCTCCCTGGATGCACATGTTATTATCATTACCCCCATGGTAACAATTATAATACT... | pathogenic | 91,492 |
Chromosome 5, position 33954406, gene SLC45A2 (solute carrier family 45 member 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Oculocutaneous_albinism_type_4', 'SKIN/HAIR/EYE_PIGMENTATION_5,_BLACK/NONBLACK_HAIR'] | TTGTATTTTTTTTTTTTGTAGTTTCAGCATTTTATTTCTTATTTTGATTCAAGATGTGAGAGGTATTACAAACACTCAATTATGAGTGATGCATTTACGTGTCCTATTCTTCCATCTGTAGATAAGTGAAAAGTCATTTAAGAAATTAGAGGTCTCTGTAGTAAATCCAAGTCACAGTAAAGCAAACAAAAATGCATATGTGTGTGATATAATGTGGAACTTTACCCCCTTGGAAGACTTTGCAGGCTGTAAGAATTTCATTTTTAATGTATTTCATACAGGCCGGAGCTAACAAGTTAATTTCTATTGAGCAAAAGTTT... | TTGTATTTTTTTTTTTTGTAGTTTCAGCATTTTATTTCTTATTTTGATTCAAGATGTGAGAGGTATTACAAACACTCAATTATGAGTGATGCATTTACGTGTCCTATTCTTCCATCTGTAGATAAGTGAAAAGTCATTTAAGAAATTAGAGGTCTCTGTAGTAAATCCAAGTCACAGTAAAGCAAACAAAAATGCATATGTGTGTGATATAATGTGGAACTTTACCCCCTTGGAAGACTTTGCAGGCTGTAAGAATTTCATTTTTAATGTATTTCATACAGGCCGGAGCTAACAAGTTAATTTCTATTGAGCAAAAGTTT... | pathogenic | 91,501 |
Gene SLC45A2 (solute carrier family 45 member 2) variant at chromosome 5, position 33963776—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Oculocutaneous_albinism_type_4', 'SKIN/HAIR/EYE_PIGMENTATION_5,_BLACK/NONBLACK_HAIR'] | TGCTGCCTCTCTGGATCCACTGTTCCTGTTCCTGCCAAGGAACTCTGTTCCTGTACCTGTTCCTGCCAAAGTTACCCCTTTCCTGGCTGTTCCCAGATAGTGACTAACAAGACGGGGGGTATTAGTGTTAGCCTGTTCCTACAAGAGTTGGGACTCCTCTAAGGAGCAACTTTGGCTGGAGGACTCCCATTTGGCCTGAGTGAAGCTTTCTTGAAACTTCACTGCATCTGAGAGGCTTCCTACCCTATCCTCTTTCCTTTCCTTTCTCCTTTCACAGGTGTTTGACTTGCATCAACATAAGAAGACTTTCCCTTCCTATT... | TGCTGCCTCTCTGGATCCACTGTTCCTGTTCCTGCCAAGGAACTCTGTTCCTGTACCTGTTCCTGCCAAAGTTACCCCTTTCCTGGCTGTTCCCAGATAGTGACTAACAAGACGGGGGGTATTAGTGTTAGCCTGTTCCTACAAGAGTTGGGACTCCTCTAAGGAGCAACTTTGGCTGGAGGACTCCCATTTGGCCTGAGTGAAGCTTTCTTGAAACTTCACTGCATCTGAGAGGCTTCCTACCCTATCCTCTTTCCTTTCCTTTCTCCTTTCACAGGTGTTTGACTTGCATCAACATAAGAAGACTTTCCCTTCCTATT... | pathogenic | 91,506 |
Variant at chromosome 5, position 33963914, gene SLC45A2 (solute carrier family 45 member 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Oculocutaneous_albinism_type_4'] | CTACAAGAGTTGGGACTCCTCTAAGGAGCAACTTTGGCTGGAGGACTCCCATTTGGCCTGAGTGAAGCTTTCTTGAAACTTCACTGCATCTGAGAGGCTTCCTACCCTATCCTCTTTCCTTTCCTTTCTCCTTTCACAGGTGTTTGACTTGCATCAACATAAGAAGACTTTCCCTTCCTATTTCTGCTTTCTCCACTTTATCTTTCATGCTGTTTTCTCCAATGAATCTCTTACATGTCAAATCCTATCTTGGTGCCTTTTTAAAAGATCTGAACTGATACATTGTTTTATAGCATTTACCATGTTCTATCATGGATTAT... | CTACAAGAGTTGGGACTCCTCTAAGGAGCAACTTTGGCTGGAGGACTCCCATTTGGCCTGAGTGAAGCTTTCTTGAAACTTCACTGCATCTGAGAGGCTTCCTACCCTATCCTCTTTCCTTTCCTTTCTCCTTTCACAGGTGTTTGACTTGCATCAACATAAGAAGACTTTCCCTTCCTATTTCTGCTTTCTCCACTTTATCTTTCATGCTGTTTTCTCCAATGAATCTCTTACATGTCAAATCCTATCTTGGTGCCTTTTTAAAAGATCTGAACTGATACATTGTTTTATAGCATTTACCATGTTCTATCATGGATTAT... | pathogenic | 91,508 |
Is the genetic mutation found on chromosome 5 at position 33982263, within the gene SLC45A2 (solute carrier family 45 member 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Oculocutaneous_albinism_type_4', 'SLC45A2-related_disorder'] | TCCTACTCCAATCAGTGGACTTCAGGTAAATATTTAACAACTGGCTTTCCAAGAAAAAAAAAAAAACCATGATTTATAGCTTTGCCAATTTCTAGAGTTTTAATACTGCCATCATGGCCAGTTTCAAGCCAGCAATATGATGTCAACAAGTTCACTGAATTCCTAAAATTTGACAATTGATTCTCAAGAAGCCAGCATGAGCCAGCTGTAAGCACACCACTGCTTTCAAGGCTCAGCTTCCACATCTGAAAAATGGGAATCACACCACTTCCACATGGCCATTGTCAGGATCGAGATAATGTAAGAGAAAATACCTAATA... | TCCTACTCCAATCAGTGGACTTCAGGTAAATATTTAACAACTGGCTTTCCAAGAAAAAAAAAAAAACCATGATTTATAGCTTTGCCAATTTCTAGAGTTTTAATACTGCCATCATGGCCAGTTTCAAGCCAGCAATATGATGTCAACAAGTTCACTGAATTCCTAAAATTTGACAATTGATTCTCAAGAAGCCAGCATGAGCCAGCTGTAAGCACACCACTGCTTTCAAGGCTCAGCTTCCACATCTGAAAAATGGGAATCACACCACTTCCACATGGCCATTGTCAGGATCGAGATAATGTAAGAGAAAATACCTAATA... | pathogenic | 91,514 |
Does the chromosome 5 mutation at position 33984319 within gene SLC45A2 (solute carrier family 45 member 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Oculocutaneous_albinism_type_4', 'SKIN/HAIR/EYE_PIGMENTATION_5,_BLACK/NONBLACK_HAIR', 'SLC45A2-related_disorder'] | TTGTCCTGATGGGAGCAGACATCAAATAAGTAGGCTTTGATGGGCCCATCAATGAAGTCGGCAGCAAAATCAAAGAGAACGACACCTATCATGGTGACACTTATGGCCCAAACCAGCTTCCTCCTTGGGTTAGCAATCAAAGCTAAAAGAAAAATAAACATTGGTCTCCTAAATCCTGTTTTAGAATCATCCGCGTTTTGTAATTTCCACCTAAACTTCTTGCCATAAAATCATCTTCCTTGCTTTTATTTTGCTTTTTTCCAAATAAAAATAGCTTTACATTTTTTTTCAGGTTTTAAAAATTATGCAAGCGAATGTCC... | TTGTCCTGATGGGAGCAGACATCAAATAAGTAGGCTTTGATGGGCCCATCAATGAAGTCGGCAGCAAAATCAAAGAGAACGACACCTATCATGGTGACACTTATGGCCCAAACCAGCTTCCTCCTTGGGTTAGCAATCAAAGCTAAAAGAAAAATAAACATTGGTCTCCTAAATCCTGTTTTAGAATCATCCGCGTTTTGTAATTTCCACCTAAACTTCTTGCCATAAAATCATCTTCCTTGCTTTTATTTTGCTTTTTTCCAAATAAAAATAGCTTTACATTTTTTTTCAGGTTTTAAAAATTATGCAAGCGAATGTCC... | pathogenic | 91,522 |
The mutation in gene DNAJC21 (DnaJ heat shock protein family (Hsp40) member C21) at chromosome 5, position 34950206—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bone_marrow_failure_syndrome_3'] | TTGGATTGAAGTGGAGATGTTGGTATGAGCCCATGATTTAAAGAAAGTAAGTGTGTGAGCAGTGTGCATTGTGAGGACCTAGAAGCAGTGACACCCCTAGCAGTGAGTACACCTAATGCACACGTTTTGGTTTTTAAGTTCACTTTTCCATGAAAAGGAAACAGGCTTGCTCTTTGGAGAAATACCTGATTTCAGGGCTGAGACTAGGAAAGTGGAACGTGAGCCTAGAGCATCTTATACTAGAAACTAAGGAAGTGCTCAAAAACTGATGGGGATACGTTAGAAGTACTCAAGATCCAGCTTGCGGGGCCTGCCAGTTA... | TTGGATTGAAGTGGAGATGTTGGTATGAGCCCATGATTTAAAGAAAGTAAGTGTGTGAGCAGTGTGCATTGTGAGGACCTAGAAGCAGTGACACCCCTAGCAGTGAGTACACCTAATGCACACGTTTTGGTTTTTAAGTTCACTTTTCCATGAAAAGGAAACAGGCTTGCTCTTTGGAGAAATACCTGATTTCAGGGCTGAGACTAGGAAAGTGGAACGTGAGCCTAGAGCATCTTATACTAGAAACTAAGGAAGTGCTCAAAAACTGATGGGGATACGTTAGAAGTACTCAAGATCCAGCTTGCGGGGCCTGCCAGTTA... | pathogenic | 91,573 |
Located at chromosome 5 position 35867354, the variant affecting gene IL7R (interleukin 7 receptor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Immunodeficiency_104', 'Severe_combined_immunodeficiency_disease'] | TGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGATGGACATTTGGCTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCAATAATCGTACATGTGCATGTGTCTTTATAGCAGCATGATTTATACTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATAGTATTTCTAGCTCTGGATCCTTGAGGACTCGCCACACTGTCTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATTCCCTCCAGCACCTTTTGT... | TGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGATGGACATTTGGCTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCAATAATCGTACATGTGCATGTGTCTTTATAGCAGCATGATTTATACTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATAGTATTTCTAGCTCTGGATCCTTGAGGACTCGCCACACTGTCTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATTCCCTCCAGCACCTTTTGT... | pathogenic | 91,665 |
Gene IL7R (interleukin 7 receptor) variant at chromosome position 35867438 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Immunodeficiency_104', 'Multiple_sclerosis,_susceptibility_to,_3', 'Severe_combined_immunodeficiency_disease'] | TGCTATTGTGAATAGTGCTGCAATAATCGTACATGTGCATGTGTCTTTATAGCAGCATGATTTATACTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATAGTATTTCTAGCTCTGGATCCTTGAGGACTCGCCACACTGTCTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATTCCCTCCAGCACCTTTTGTTTCCTGACTTTTTAATGATCACCATTCTAACTGGTGTGAGATGGTATGTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCA... | TGCTATTGTGAATAGTGCTGCAATAATCGTACATGTGCATGTGTCTTTATAGCAGCATGATTTATACTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATAGTATTTCTAGCTCTGGATCCTTGAGGACTCGCCACACTGTCTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATTCCCTCCAGCACCTTTTGTTTCCTGACTTTTTAATGATCACCATTCTAACTGGTGTGAGATGGTATGTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCA... | pathogenic | 91,670 |
Mutation at chromosome 5, position 35871111, within IL7R (interleukin 7 receptor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Immunodeficiency_104', 'Severe_combined_immunodeficiency_disease'] | GTGGAGGCATGTCTCACGGTAGCATCTCCTTCTAGGTCCTAATGGGACACTTCATTAATGGAACTACCATTTAAGTGAGTTTAAACTGGATGCTTCTGATTGAGCCCCAGAGCCAGTGCTCCACTGCCACCACCTGCACCCTCACTTCCCCTTGTTTAAGCATCTTCCAACCCAGTAAGGCTGAAGAGGGAAGCATCCTGCCTTCCCACTTCTCTTAGCAGAGTAGATTGATATGATTATTCAGATTGTACAAGAATCTATTCCCTCTGAAGTATTGCTTGATGAATGAGCCCCTTTTTCTAATTTGCTCAAAGAAATCA... | GTGGAGGCATGTCTCACGGTAGCATCTCCTTCTAGGTCCTAATGGGACACTTCATTAATGGAACTACCATTTAAGTGAGTTTAAACTGGATGCTTCTGATTGAGCCCCAGAGCCAGTGCTCCACTGCCACCACCTGCACCCTCACTTCCCCTTGTTTAAGCATCTTCCAACCCAGTAAGGCTGAAGAGGGAAGCATCCTGCCTTCCCACTTCTCTTAGCAGAGTAGATTGATATGATTATTCAGATTGTACAAGAATCTATTCCCTCTGAAGTATTGCTTGATGAATGAGCCCCTTTTTCTAATTTGCTCAAAGAAATCA... | pathogenic | 91,676 |
Evaluate the clinical significance of the mutation at chromosome 5, position 36877180 in gene NIPBL (NIPBL cohesin loading factor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ACTGTGTGGCATTCTAGGCGGGGGCCGTAACACCAGTGCAGAAAAACACAACCTCTTGTCCTCTTAGAGCTTACATTGCACTGGGGAAGGAGAGATAAGAAGATAAACAAGTATGGATATGTAGACTGTCCAAAGGATAAAATGAGAAGGGGGCTAGGGAACTTTCAGTTTAAAAGTAGCCGCGGAAGCACCGAGTGACACGAGCAAAATCCTGAAGGTGAAGGAGCAAGCCCTGTGGACGACGCTCAGGGAAGAGTCCTACTCGCAAGGATGCCAGGGCAGGCCCGCCCCCACCCTCAACGGCGCGCGGGGACTTCTGC... | ACTGTGTGGCATTCTAGGCGGGGGCCGTAACACCAGTGCAGAAAAACACAACCTCTTGTCCTCTTAGAGCTTACATTGCACTGGGGAAGGAGAGATAAGAAGATAAACAAGTATGGATATGTAGACTGTCCAAAGGATAAAATGAGAAGGGGGCTAGGGAACTTTCAGTTTAAAAGTAGCCGCGGAAGCACCGAGTGACACGAGCAAAATCCTGAAGGTGAAGGAGCAAGCCCTGTGGACGACGCTCAGGGAAGAGTCCTACTCGCAAGGATGCCAGGGCAGGCCCGCCCCCACCCTCAACGGCGCGCGGGGACTTCTGC... | benign | 91,802 |
A genetic variant on chromosome 5, position 36955491, affects the gene NIPBL (NIPBL cohesin loading factor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cornelia_de_Lange_syndrome_1'] | TGTGTGCAAAGCACTTTGCAATTGCTTAACATGTAATAAGTGGTATGTGAAAATGATTATTATATAGGTTGAACAAACCAAAGCAGTAACTTTTTTTTATAGTGATTAAGCATTTTCCTGATAGTAATATATCTGACATATCTCTACAAATAATTGTCTGTTTTGTGTGTTGCAGTGTTTGGGAAATGGGAAGTAATGACAGCTGGCACCTGAACTAAGTACTTTTATAGGCAACACCATTCCAGAAATTCAGGATGAATGGGGATATGCCCCATGTCCCCATTACTACTCTTGCGGGGATTGCTAGTCTCACAGACCGT... | TGTGTGCAAAGCACTTTGCAATTGCTTAACATGTAATAAGTGGTATGTGAAAATGATTATTATATAGGTTGAACAAACCAAAGCAGTAACTTTTTTTTATAGTGATTAAGCATTTTCCTGATAGTAATATATCTGACATATCTCTACAAATAATTGTCTGTTTTGTGTGTTGCAGTGTTTGGGAAATGGGAAGTAATGACAGCTGGCACCTGAACTAAGTACTTTTATAGGCAACACCATTCCAGAAATTCAGGATGAATGGGGATATGCCCCATGTCCCCATTACTACTCTTGCGGGGATTGCTAGTCTCACAGACCGT... | pathogenic | 91,808 |
Is the genetic variant on chromosome 5, position 36976406, gene NIPBL (NIPBL cohesin loading factor), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | ATTAATTATTAGAATTTGAAGTTTGTTCTAAAGTGTATATAATTTGCCACATAGAATTTAAATACAAAGGCATAATGGTATATTACAATTCAGACTTAGACAAATCTTGTTTTAAATCTTCAGGTTTGTTAACTACATAACCTTGGGCAAATTTCTTAACCTCTGTAGGCTTCATGTTCCATTTCTGAAAAATTTTAAAGATAATACTCAAGAATGTTGTAAAAATCAAGTGAATTGATATGTAAAGCACCTTTCACAACTCTGACACAAAATGTTAGACTAACATTTATAGTTAATTGCTCCCATATCATCTTTATCAC... | ATTAATTATTAGAATTTGAAGTTTGTTCTAAAGTGTATATAATTTGCCACATAGAATTTAAATACAAAGGCATAATGGTATATTACAATTCAGACTTAGACAAATCTTGTTTTAAATCTTCAGGTTTGTTAACTACATAACCTTGGGCAAATTTCTTAACCTCTGTAGGCTTCATGTTCCATTTCTGAAAAATTTTAAAGATAATACTCAAGAATGTTGTAAAAATCAAGTGAATTGATATGTAAAGCACCTTTCACAACTCTGACACAAAATGTTAGACTAACATTTATAGTTAATTGCTCCCATATCATCTTTATCAC... | benign | 91,838 |
Variant on chromosome 5, at position 36984980, affecting NIPBL (NIPBL cohesin loading factor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['NIPBL-related_disorder'] | AGAAATCTTAGGTTATATTTTTTGAATTTCTAGAGTCTTATAAAAGTTTAAGGGATAAGCATAAATTGATAAAGCATCTTATTCATGAGATATCAATTGGTTTGCCCTGTGGCAGAACATAAAGATGATTTTTGAATGGCAGAACATTCTAAAAGAGGATTCTATAAACATAAATTTAGTATTCTGATTTCTTTTTTAAGGTATTGATGTAGAAAACTTCCTATAAATTCTTACCATGTTAGTTTTAACTGGTGGAAACAATCTAATGATAATATATTATACTTTAGAATTAAAATGGTAGTGTTTTGCAAATGGAGCAT... | AGAAATCTTAGGTTATATTTTTTGAATTTCTAGAGTCTTATAAAAGTTTAAGGGATAAGCATAAATTGATAAAGCATCTTATTCATGAGATATCAATTGGTTTGCCCTGTGGCAGAACATAAAGATGATTTTTGAATGGCAGAACATTCTAAAAGAGGATTCTATAAACATAAATTTAGTATTCTGATTTCTTTTTTAAGGTATTGATGTAGAAAACTTCCTATAAATTCTTACCATGTTAGTTTTAACTGGTGGAAACAATCTAATGATAATATATTATACTTTAGAATTAAAATGGTAGTGTTTTGCAAATGGAGCAT... | pathogenic | 91,841 |
Variant on chromosome 5, at position 36984980, affecting NIPBL (NIPBL cohesin loading factor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cornelia_de_Lange_syndrome_1'] | AGAAATCTTAGGTTATATTTTTTGAATTTCTAGAGTCTTATAAAAGTTTAAGGGATAAGCATAAATTGATAAAGCATCTTATTCATGAGATATCAATTGGTTTGCCCTGTGGCAGAACATAAAGATGATTTTTGAATGGCAGAACATTCTAAAAGAGGATTCTATAAACATAAATTTAGTATTCTGATTTCTTTTTTAAGGTATTGATGTAGAAAACTTCCTATAAATTCTTACCATGTTAGTTTTAACTGGTGGAAACAATCTAATGATAATATATTATACTTTAGAATTAAAATGGTAGTGTTTTGCAAATGGAGCAT... | AGAAATCTTAGGTTATATTTTTTGAATTTCTAGAGTCTTATAAAAGTTTAAGGGATAAGCATAAATTGATAAAGCATCTTATTCATGAGATATCAATTGGTTTGCCCTGTGGCAGAACATAAAGATGATTTTTGAATGGCAGAACATTCTAAAAGAGGATTCTATAAACATAAATTTAGTATTCTGATTTCTTTTTTAAGGTATTGATGTAGAAAACTTCCTATAAATTCTTACCATGTTAGTTTTAACTGGTGGAAACAATCTAATGATAATATATTATACTTTAGAATTAAAATGGTAGTGTTTTGCAAATGGAGCAT... | pathogenic | 91,842 |
The mutation in gene NIPBL (NIPBL cohesin loading factor) at chromosome 5, position 36985640—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cornelia_de_Lange_syndrome_1'] | TAACAGTGACTTTTAAAACATACTCAAGCAATTCAGCAAATAAACAAAAGGAAGCCAAACCTCAAGGTGCTATAATGTAACCATTCCCAAGACCTAACTGGAGATTTAATTTATAGAAAATGACTAGCTCCCTCTTAAGTCAGAAATGGAATCATACACAGAAATATATAGATGTTAAAAATACCTTCACATTTTATTGTAATGGTGAATTTGTGTTTGTGTGTGTGTTTGTCTTTACATTTCATAATACTGTAAATTATTTCTTTCTGAGACCAGAATGGATCCCAGAACATTATAACTTTATATCGAAGAGTAGGAAC... | TAACAGTGACTTTTAAAACATACTCAAGCAATTCAGCAAATAAACAAAAGGAAGCCAAACCTCAAGGTGCTATAATGTAACCATTCCCAAGACCTAACTGGAGATTTAATTTATAGAAAATGACTAGCTCCCTCTTAAGTCAGAAATGGAATCATACACAGAAATATATAGATGTTAAAAATACCTTCACATTTTATTGTAATGGTGAATTTGTGTTTGTGTGTGTGTTTGTCTTTACATTTCATAATACTGTAAATTATTTCTTTCTGAGACCAGAATGGATCCCAGAACATTATAACTTTATATCGAAGAGTAGGAAC... | pathogenic | 91,859 |
The mutation in gene NIPBL (NIPBL cohesin loading factor) at chromosome 5, position 36985658—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cornelia_de_Lange_syndrome_1'] | CATACTCAAGCAATTCAGCAAATAAACAAAAGGAAGCCAAACCTCAAGGTGCTATAATGTAACCATTCCCAAGACCTAACTGGAGATTTAATTTATAGAAAATGACTAGCTCCCTCTTAAGTCAGAAATGGAATCATACACAGAAATATATAGATGTTAAAAATACCTTCACATTTTATTGTAATGGTGAATTTGTGTTTGTGTGTGTGTTTGTCTTTACATTTCATAATACTGTAAATTATTTCTTTCTGAGACCAGAATGGATCCCAGAACATTATAACTTTATATCGAAGAGTAGGAACTGTTTCCTTCAGTGGAAG... | CATACTCAAGCAATTCAGCAAATAAACAAAAGGAAGCCAAACCTCAAGGTGCTATAATGTAACCATTCCCAAGACCTAACTGGAGATTTAATTTATAGAAAATGACTAGCTCCCTCTTAAGTCAGAAATGGAATCATACACAGAAATATATAGATGTTAAAAATACCTTCACATTTTATTGTAATGGTGAATTTGTGTTTGTGTGTGTGTTTGTCTTTACATTTCATAATACTGTAAATTATTTCTTTCTGAGACCAGAATGGATCCCAGAACATTATAACTTTATATCGAAGAGTAGGAACTGTTTCCTTCAGTGGAAG... | pathogenic | 91,861 |
Is chromosome 5, position 36986237, gene NIPBL (NIPBL cohesin loading factor) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cornelia_de_Lange_syndrome_1'] | TATCTTAGATACAGTAAAAACTTATATTTCCTGTTTGGTATATTGGCAGATTTGGAGCTCTTTATGGTTTTTGGCTAACAGTTAAAAGTAACCTGAGTGAGACTTTATGATTTGTAACTGGTTGCTTTATTATTAGGAAAAGAATCTGATTTATCCGTGACATCTATGAACATAAATATATGTTTGTATTTGGTACATTATAAGTTCTATTCATTTTATATTCTTACACTTATTTATATCCTTAAAGAGTATGCAGTTAAATTCTTTTTACTATATTTATTGAGATCTCTCAAGCATATTTCTTCAAACCTTACCTTTCA... | TATCTTAGATACAGTAAAAACTTATATTTCCTGTTTGGTATATTGGCAGATTTGGAGCTCTTTATGGTTTTTGGCTAACAGTTAAAAGTAACCTGAGTGAGACTTTATGATTTGTAACTGGTTGCTTTATTATTAGGAAAAGAATCTGATTTATCCGTGACATCTATGAACATAAATATATGTTTGTATTTGGTACATTATAAGTTCTATTCATTTTATATTCTTACACTTATTTATATCCTTAAAGAGTATGCAGTTAAATTCTTTTTACTATATTTATTGAGATCTCTCAAGCATATTTCTTCAAACCTTACCTTTCA... | pathogenic | 91,870 |
Does the genetic variant at chromosome 5, position 37007373, impacting gene NIPBL (NIPBL cohesin loading factor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cornelia_de_Lange_syndrome_1'] | TCCATTGTTAGTCTACAAGTTACTTAAATACTTCGCCAAGAAATTGTGATAATCATCATCAGAAATCTAGAGTTCTGGAGAGCTGGCTGACTCAGTCTTAAGGAAATTACTTTCATCCCTAAAAACCGTAACAGTATTTAATATGTTGTGGATAGCCTTAACGTTTGGCATGAATCATGAGCCTCCTTAACTGACTCTTCCAAACAAACAGCAATGTTCGCATCAAAGACAAGCTACTTTATCTTTCCTTTGTGAGGTTTTAGGCATTACTGAACAGAAAGCCCTGTCTGCTTTACATATTATATATCGTGTTTTTGTTC... | TCCATTGTTAGTCTACAAGTTACTTAAATACTTCGCCAAGAAATTGTGATAATCATCATCAGAAATCTAGAGTTCTGGAGAGCTGGCTGACTCAGTCTTAAGGAAATTACTTTCATCCCTAAAAACCGTAACAGTATTTAATATGTTGTGGATAGCCTTAACGTTTGGCATGAATCATGAGCCTCCTTAACTGACTCTTCCAAACAAACAGCAATGTTCGCATCAAAGACAAGCTACTTTATCTTTCCTTTGTGAGGTTTTAGGCATTACTGAACAGAAAGCCCTGTCTGCTTTACATATTATATATCGTGTTTTTGTTC... | pathogenic | 91,893 |
The mutation impacting NIPBL (NIPBL cohesin loading factor) on chromosome 5 at position 37007457: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cornelia_de_Lange_syndrome_1'] | GGCTGACTCAGTCTTAAGGAAATTACTTTCATCCCTAAAAACCGTAACAGTATTTAATATGTTGTGGATAGCCTTAACGTTTGGCATGAATCATGAGCCTCCTTAACTGACTCTTCCAAACAAACAGCAATGTTCGCATCAAAGACAAGCTACTTTATCTTTCCTTTGTGAGGTTTTAGGCATTACTGAACAGAAAGCCCTGTCTGCTTTACATATTATATATCGTGTTTTTGTTCGTTTTCCTAGGGTATAAGCTTTGAATTGGAAGTAGTCCTGTAATATAGTTTATATTTCATAACTAAAGATGTGATAGAAGGATT... | GGCTGACTCAGTCTTAAGGAAATTACTTTCATCCCTAAAAACCGTAACAGTATTTAATATGTTGTGGATAGCCTTAACGTTTGGCATGAATCATGAGCCTCCTTAACTGACTCTTCCAAACAAACAGCAATGTTCGCATCAAAGACAAGCTACTTTATCTTTCCTTTGTGAGGTTTTAGGCATTACTGAACAGAAAGCCCTGTCTGCTTTACATATTATATATCGTGTTTTTGTTCGTTTTCCTAGGGTATAAGCTTTGAATTGGAAGTAGTCCTGTAATATAGTTTATATTTCATAACTAAAGATGTGATAGAAGGATT... | pathogenic | 91,894 |
Benign or pathogenic: chromosome 5, position 37010067, gene NIPBL (NIPBL cohesin loading factor) variant? Disease(s) if pathogenic? | benign | GGGAATAACACCATTTTTTGTGGAAAATGTCAGTGAACTACAGTTGTGTGCCATTAAGTTAGTCACTGCAGTAAGTATAATCAATTTGTATTTTTAGTTACCCCACAAATAAAACAATATTGATGTCATTTAATCCAAATTTCCAAAAAATAATGAAGATACCTGGTTTTCAGTACATTCATTTCAATCTAAGGACTATTTTACTAAGTCTTATTAGACTTTATTAATTGAGGATTTATTTTTCTGTTTGGTTAATTTGTTGGGTTATTCTGTTTTTGTCACATTTAAAACACTTCCAAATATTTGCAAATATTTCAGCT... | GGGAATAACACCATTTTTTGTGGAAAATGTCAGTGAACTACAGTTGTGTGCCATTAAGTTAGTCACTGCAGTAAGTATAATCAATTTGTATTTTTAGTTACCCCACAAATAAAACAATATTGATGTCATTTAATCCAAATTTCCAAAAAATAATGAAGATACCTGGTTTTCAGTACATTCATTTCAATCTAAGGACTATTTTACTAAGTCTTATTAGACTTTATTAATTGAGGATTTATTTTTCTGTTTGGTTAATTTGTTGGGTTATTCTGTTTTTGTCACATTTAAAACACTTCCAAATATTTGCAAATATTTCAGCT... | benign | 91,905 |
Regarding the variant found on chromosome 5 at position 37016150 in gene NIPBL (NIPBL cohesin loading factor): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Inborn_genetic_diseases'] | CAAGCTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACCGTCCAGCTTCGGCTCGGCATCAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGTGGAGAGGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGGGAGAGCTTAATCTTTAAATTTCTGATGAAGGCTTTGAATTTTTTTTTTTGATTGTATGGATTATATGTTTCTTAAACTTTGAGGTTGACATATTTTTTCTAAATTCTTTTTTTATTTTCAATCCATTTCTTTCTGTTCTGACCAGGATTATGATAAACAA... | CAAGCTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACCGTCCAGCTTCGGCTCGGCATCAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGTGGAGAGGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGGGAGAGCTTAATCTTTAAATTTCTGATGAAGGCTTTGAATTTTTTTTTTTGATTGTATGGATTATATGTTTCTTAAACTTTGAGGTTGACATATTTTTTCTAAATTCTTTTTTTATTTTCAATCCATTTCTTTCTGTTCTGACCAGGATTATGATAAACAA... | pathogenic | 91,913 |
Determine whether the variant at chromosome 5, position 37017023, in gene NIPBL (NIPBL cohesin loading factor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cornelia_de_Lange_syndrome_1'] | TTTTGTGAATTTGCTTATATGTTAGACTCCAGAAATTAAAGTACTAGATTGAAATTCTGTAATTTGTCTTCAGTAAATTTTGGAGAATTTTCCTAGTGTACCTGAATAGGAAAGTTTGTGAAGAGATGTTATTTAGCCTCCATATGAATTTTTTTTTTTTTTTAATGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTAACTGCAACCTCCGCCTCCCAGCTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGATTACAGGCATGCACCACCATGGCCAGCTAATTTT... | TTTTGTGAATTTGCTTATATGTTAGACTCCAGAAATTAAAGTACTAGATTGAAATTCTGTAATTTGTCTTCAGTAAATTTTGGAGAATTTTCCTAGTGTACCTGAATAGGAAAGTTTGTGAAGAGATGTTATTTAGCCTCCATATGAATTTTTTTTTTTTTTTAATGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTAACTGCAACCTCCGCCTCCCAGCTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGGATTACAGGCATGCACCACCATGGCCAGCTAATTTT... | pathogenic | 91,915 |
Assess the variant on chromosome 5, position 37022033, impacting NIPBL (NIPBL cohesin loading factor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | AAAGGAACAGATTTACAGGTGTGTCTCAGTGTTAAACTATTTCAGTGACAATTGTCTTGTGTGTTTCTTGGAGAACTAAGGCAAAATTTGAAAACAGATGAAGTCTTCTACCTTCAGCATTTTATCAATTTGTTTTAAACTTTCCTAGTTGACCCATCATCTGTTTAACTTTGTCATGATGTTGTCCTTGATTAAGTAGTTGATAATAGTATTCTATATTTAATACAGTTGTGTTTATCAAATTATCTTGACTTCATTAATATAAGTATTGGAACATAGTAAAATAATAAGTTTTCTAACATTTAGGATATTCTATATTT... | AAAGGAACAGATTTACAGGTGTGTCTCAGTGTTAAACTATTTCAGTGACAATTGTCTTGTGTGTTTCTTGGAGAACTAAGGCAAAATTTGAAAACAGATGAAGTCTTCTACCTTCAGCATTTTATCAATTTGTTTTAAACTTTCCTAGTTGACCCATCATCTGTTTAACTTTGTCATGATGTTGTCCTTGATTAAGTAGTTGATAATAGTATTCTATATTTAATACAGTTGTGTTTATCAAATTATCTTGACTTCATTAATATAAGTATTGGAACATAGTAAAATAATAAGTTTTCTAACATTTAGGATATTCTATATTT... | benign | 91,925 |
Mutation found at chromosome 5 position 37022108, gene NIPBL (NIPBL cohesin loading factor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cornelia_de_Lange_syndrome_1'] | CTAAGGCAAAATTTGAAAACAGATGAAGTCTTCTACCTTCAGCATTTTATCAATTTGTTTTAAACTTTCCTAGTTGACCCATCATCTGTTTAACTTTGTCATGATGTTGTCCTTGATTAAGTAGTTGATAATAGTATTCTATATTTAATACAGTTGTGTTTATCAAATTATCTTGACTTCATTAATATAAGTATTGGAACATAGTAAAATAATAAGTTTTCTAACATTTAGGATATTCTATATTTTCTGGCTTTCTTAAAATCTGTTTTTATCACATGGAAGTTGTTTTAAAGTAAACTTTAATATTTGTATTCCTGTAA... | CTAAGGCAAAATTTGAAAACAGATGAAGTCTTCTACCTTCAGCATTTTATCAATTTGTTTTAAACTTTCCTAGTTGACCCATCATCTGTTTAACTTTGTCATGATGTTGTCCTTGATTAAGTAGTTGATAATAGTATTCTATATTTAATACAGTTGTGTTTATCAAATTATCTTGACTTCATTAATATAAGTATTGGAACATAGTAAAATAATAAGTTTTCTAACATTTAGGATATTCTATATTTTCTGGCTTTCTTAAAATCTGTTTTTATCACATGGAAGTTGTTTTAAAGTAAACTTTAATATTTGTATTCCTGTAA... | pathogenic | 91,928 |
Variant on chromosome 5, at position 37024698, affecting NIPBL (NIPBL cohesin loading factor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cornelia_de_Lange_syndrome_1'] | GTAGATGATAGGAACCACATGGGGTAGTTAAATGTTTTTGAACAAGAATCTAGAGTGATTTTATGTATATATTTATGTATGTATATATATAAACAGGAAGAATTATTTCAGTGAGAGACACGTACAGAACGTTGGTACCTGACAATATTTTTGGATCCCTTAGGTGCATCTTCTTGTTTCCTTAAAGCTGATTAATGATAGCTCAGATACCTACAAGTTAAGCCCAAAAGTCCATTGAGGTTTAAGAGCAAACTAAAGAGGTTCTACATACATCATGGAATTCTCTGGCTCTGAAGCATTTTTCTGAAAAATGAAAGGAA... | GTAGATGATAGGAACCACATGGGGTAGTTAAATGTTTTTGAACAAGAATCTAGAGTGATTTTATGTATATATTTATGTATGTATATATATAAACAGGAAGAATTATTTCAGTGAGAGACACGTACAGAACGTTGGTACCTGACAATATTTTTGGATCCCTTAGGTGCATCTTCTTGTTTCCTTAAAGCTGATTAATGATAGCTCAGATACCTACAAGTTAAGCCCAAAAGTCCATTGAGGTTTAAGAGCAAACTAAAGAGGTTCTACATACATCATGGAATTCTCTGGCTCTGAAGCATTTTTCTGAAAAATGAAAGGAA... | pathogenic | 91,938 |
A genetic alteration at chromosome 5, position 37036347, in gene NIPBL (NIPBL cohesin loading factor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GAAAAATGATTTCATAAAATTATCTCATAAAAGCATTATCTTGTGAAGTTGAACAATGCATGTATCCAATGACCCAGCAATTCGACTTCAAATATATATACACACAAAAGAATCTTGCATATTTGCATCAGGAGGCATATACAAGAGTGCTTATTGTACTAAAATTGGGATTAACCTATCTACAAAAGAGTGGATAAATGAATTAAGGTATAGGCACACAGTGGGGTGTTGTACAGCAGAGAAAATCAGTAAAATACAGCTGTATGCAGTAACCTAGATCATAGTGGCATAATGATGAGTGAAAAAAGCAAATCTCAGAA... | GAAAAATGATTTCATAAAATTATCTCATAAAAGCATTATCTTGTGAAGTTGAACAATGCATGTATCCAATGACCCAGCAATTCGACTTCAAATATATATACACACAAAAGAATCTTGCATATTTGCATCAGGAGGCATATACAAGAGTGCTTATTGTACTAAAATTGGGATTAACCTATCTACAAAAGAGTGGATAAATGAATTAAGGTATAGGCACACAGTGGGGTGTTGTACAGCAGAGAAAATCAGTAAAATACAGCTGTATGCAGTAACCTAGATCATAGTGGCATAATGATGAGTGAAAAAAGCAAATCTCAGAA... | benign | 91,945 |
Chromosome 5, position 37036347, gene NIPBL (NIPBL cohesin loading factor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GAAAAATGATTTCATAAAATTATCTCATAAAAGCATTATCTTGTGAAGTTGAACAATGCATGTATCCAATGACCCAGCAATTCGACTTCAAATATATATACACACAAAAGAATCTTGCATATTTGCATCAGGAGGCATATACAAGAGTGCTTATTGTACTAAAATTGGGATTAACCTATCTACAAAAGAGTGGATAAATGAATTAAGGTATAGGCACACAGTGGGGTGTTGTACAGCAGAGAAAATCAGTAAAATACAGCTGTATGCAGTAACCTAGATCATAGTGGCATAATGATGAGTGAAAAAAGCAAATCTCAGAA... | GAAAAATGATTTCATAAAATTATCTCATAAAAGCATTATCTTGTGAAGTTGAACAATGCATGTATCCAATGACCCAGCAATTCGACTTCAAATATATATACACACAAAAGAATCTTGCATATTTGCATCAGGAGGCATATACAAGAGTGCTTATTGTACTAAAATTGGGATTAACCTATCTACAAAAGAGTGGATAAATGAATTAAGGTATAGGCACACAGTGGGGTGTTGTACAGCAGAGAAAATCAGTAAAATACAGCTGTATGCAGTAACCTAGATCATAGTGGCATAATGATGAGTGAAAAAAGCAAATCTCAGAA... | benign | 91,946 |
Variant on chromosome 5, at position 37048558, affecting NIPBL (NIPBL cohesin loading factor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cornelia_de_Lange_syndrome_1'] | TAAAGAAAAATAATATAGAAGAATTCTGTGCTCTTTGCATTTTTTTAATTGTTCTTTTTCATTGCAAAGCTTTGTCACTACAGGAAGCTGCCACATCTGGTTAAAACAATGATCAGTCTACACTGACTTATTTATATAAAAGCAAATAGTAAGCAACCCAGAAGGAACAATTTGGATATATACCTGTTTTATAATGTTTTTCCAGGAAGGATTGATGTAATAAAAACATGTTTTGCAATTGTTAGGCAGGTCTATGTGGCTTATATCTAGGAAGGAATTAGAATATGAGGAAATAGGAGGTGAATGGCATTAAAGTACCT... | TAAAGAAAAATAATATAGAAGAATTCTGTGCTCTTTGCATTTTTTTAATTGTTCTTTTTCATTGCAAAGCTTTGTCACTACAGGAAGCTGCCACATCTGGTTAAAACAATGATCAGTCTACACTGACTTATTTATATAAAAGCAAATAGTAAGCAACCCAGAAGGAACAATTTGGATATATACCTGTTTTATAATGTTTTTCCAGGAAGGATTGATGTAATAAAAACATGTTTTGCAATTGTTAGGCAGGTCTATGTGGCTTATATCTAGGAAGGAATTAGAATATGAGGAAATAGGAGGTGAATGGCATTAAAGTACCT... | pathogenic | 91,960 |
A genetic variant at chromosome 5, position 37048587, affecting gene NIPBL (NIPBL cohesin loading factor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cornelia_de_Lange_syndrome_1', 'Inborn_genetic_diseases'] | GCTCTTTGCATTTTTTTAATTGTTCTTTTTCATTGCAAAGCTTTGTCACTACAGGAAGCTGCCACATCTGGTTAAAACAATGATCAGTCTACACTGACTTATTTATATAAAAGCAAATAGTAAGCAACCCAGAAGGAACAATTTGGATATATACCTGTTTTATAATGTTTTTCCAGGAAGGATTGATGTAATAAAAACATGTTTTGCAATTGTTAGGCAGGTCTATGTGGCTTATATCTAGGAAGGAATTAGAATATGAGGAAATAGGAGGTGAATGGCATTAAAGTACCTGAATTGAATGCACTTCAAAAAAATACAAG... | GCTCTTTGCATTTTTTTAATTGTTCTTTTTCATTGCAAAGCTTTGTCACTACAGGAAGCTGCCACATCTGGTTAAAACAATGATCAGTCTACACTGACTTATTTATATAAAAGCAAATAGTAAGCAACCCAGAAGGAACAATTTGGATATATACCTGTTTTATAATGTTTTTCCAGGAAGGATTGATGTAATAAAAACATGTTTTGCAATTGTTAGGCAGGTCTATGTGGCTTATATCTAGGAAGGAATTAGAATATGAGGAAATAGGAGGTGAATGGCATTAAAGTACCTGAATTGAATGCACTTCAAAAAAATACAAG... | pathogenic | 91,961 |
Does the chromosome 5 mutation at position 37048613 within gene NIPBL (NIPBL cohesin loading factor) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cornelia_de_Lange_syndrome_1'] | TTTTCATTGCAAAGCTTTGTCACTACAGGAAGCTGCCACATCTGGTTAAAACAATGATCAGTCTACACTGACTTATTTATATAAAAGCAAATAGTAAGCAACCCAGAAGGAACAATTTGGATATATACCTGTTTTATAATGTTTTTCCAGGAAGGATTGATGTAATAAAAACATGTTTTGCAATTGTTAGGCAGGTCTATGTGGCTTATATCTAGGAAGGAATTAGAATATGAGGAAATAGGAGGTGAATGGCATTAAAGTACCTGAATTGAATGCACTTCAAAAAAATACAAGAACAGTCTGTCCAGGTTTTTGGTTTT... | TTTTCATTGCAAAGCTTTGTCACTACAGGAAGCTGCCACATCTGGTTAAAACAATGATCAGTCTACACTGACTTATTTATATAAAAGCAAATAGTAAGCAACCCAGAAGGAACAATTTGGATATATACCTGTTTTATAATGTTTTTCCAGGAAGGATTGATGTAATAAAAACATGTTTTGCAATTGTTAGGCAGGTCTATGTGGCTTATATCTAGGAAGGAATTAGAATATGAGGAAATAGGAGGTGAATGGCATTAAAGTACCTGAATTGAATGCACTTCAAAAAAATACAAGAACAGTCTGTCCAGGTTTTTGGTTTT... | pathogenic | 91,963 |
Located at chromosome 5 position 37048636, the variant affecting gene NIPBL (NIPBL cohesin loading factor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cornelia_de_Lange_syndrome_1', 'NIPBL-related_disorder'] | TACAGGAAGCTGCCACATCTGGTTAAAACAATGATCAGTCTACACTGACTTATTTATATAAAAGCAAATAGTAAGCAACCCAGAAGGAACAATTTGGATATATACCTGTTTTATAATGTTTTTCCAGGAAGGATTGATGTAATAAAAACATGTTTTGCAATTGTTAGGCAGGTCTATGTGGCTTATATCTAGGAAGGAATTAGAATATGAGGAAATAGGAGGTGAATGGCATTAAAGTACCTGAATTGAATGCACTTCAAAAAAATACAAGAACAGTCTGTCCAGGTTTTTGGTTTTTGTTGTTGTTTTTTTTGGTACAA... | TACAGGAAGCTGCCACATCTGGTTAAAACAATGATCAGTCTACACTGACTTATTTATATAAAAGCAAATAGTAAGCAACCCAGAAGGAACAATTTGGATATATACCTGTTTTATAATGTTTTTCCAGGAAGGATTGATGTAATAAAAACATGTTTTGCAATTGTTAGGCAGGTCTATGTGGCTTATATCTAGGAAGGAATTAGAATATGAGGAAATAGGAGGTGAATGGCATTAAAGTACCTGAATTGAATGCACTTCAAAAAAATACAAGAACAGTCTGTCCAGGTTTTTGGTTTTTGTTGTTGTTTTTTTTGGTACAA... | pathogenic | 91,964 |
Clinical classification of chromosome 5, position 37051759, gene NIPBL (NIPBL cohesin loading factor): benign or pathogenic? Disease(s) if pathogenic? | benign | TTCATCTTTAAGTTGGGTATAACACCAACTACTCGACACCTCATAGCATTAATATGAGGACACAACGACGTAATAAAGACATTAGTGTTACTGAAGATTGGCAGCCAATGCTGATGTAGTAGTATATACCATCTGATGGTCAAGAGAGCACCATAGGCTACAAAAGTGTATGTATTAAGTAAGCAGAGTCTATACCCTTCAAGATTTTTATTTTGGGTATTTTTCATGGAACGTTTTAAAAATATGATTTATTTAAACATACTGTGGTCTTCCCTGTGTCCTGAAACAAAACATGTTAACAAATATTTATCCTGTTCTTC... | TTCATCTTTAAGTTGGGTATAACACCAACTACTCGACACCTCATAGCATTAATATGAGGACACAACGACGTAATAAAGACATTAGTGTTACTGAAGATTGGCAGCCAATGCTGATGTAGTAGTATATACCATCTGATGGTCAAGAGAGCACCATAGGCTACAAAAGTGTATGTATTAAGTAAGCAGAGTCTATACCCTTCAAGATTTTTATTTTGGGTATTTTTCATGGAACGTTTTAAAAATATGATTTATTTAAACATACTGTGGTCTTCCCTGTGTCCTGAAACAAAACATGTTAACAAATATTTATCCTGTTCTTC... | benign | 91,968 |
A mutation at chromosome position 37058913 on chromosome 5 in gene NIPBL (NIPBL cohesin loading factor): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cornelia_de_Lange_syndrome_1', 'NIPBL-related_disorder'] | CTCTTGAGATAGCATAGTGTAAGTCATTATAAAATTAAAAAAAATGGGCCTAAGATTATTTTATAAAATTCCATTTCTGTTCCCCCTTTTCCCTTTTTGTTACACCTGTCTCCCTTTCCCTTTTTCCCCCCTCTATATTTCTCTCCCTCCTCCTCTCCCTCTGTCTCTCTGTGTCTCTCCCCACTCTCTCCGTGTGTGTCTGCTTATCTCTGTCTAACATTAAGTGAGGTGAAAGTGCCCTGTATTTTTTCTAAAAAAGGTTTTTTGGTTGGGTTTCTAGATTATCCGCTAAACATGTGTGCTTTTTCTTAAAATTTACA... | CTCTTGAGATAGCATAGTGTAAGTCATTATAAAATTAAAAAAAATGGGCCTAAGATTATTTTATAAAATTCCATTTCTGTTCCCCCTTTTCCCTTTTTGTTACACCTGTCTCCCTTTCCCTTTTTCCCCCCTCTATATTTCTCTCCCTCCTCCTCTCCCTCTGTCTCTCTGTGTCTCTCCCCACTCTCTCCGTGTGTGTCTGCTTATCTCTGTCTAACATTAAGTGAGGTGAAAGTGCCCTGTATTTTTTCTAAAAAAGGTTTTTTGGTTGGGTTTCTAGATTATCCGCTAAACATGTGTGCTTTTTCTTAAAATTTACA... | pathogenic | 91,979 |
Does the variant impacting NIPBL (NIPBL cohesin loading factor) on chromosome 5, position 37060945, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cornelia_de_Lange_syndrome_1', 'NIPBL-related_disorder'] | GTAAAGGACAAAAGGAAAGAGAGAAAATCATCACCTAGTAAGGAAAATGAGTCAAGCGACAGTGAAGAAGAAGTTTCCAGGCCTCGGAAGTCACGGAAACGTGTAGATTCAGATTCAGATTCAGATTCAGAAGACGATATAAATTCAGTGATGAAATGTTTGCCAGAAAATTCAGCTCCTTTAATCGAATTTGCAAATGTGTCCCAGGGTATTTTATTACTTCTCATGTTAAAACAACATTTGAAGAATCTTTGTGGATTTTCTGATAGGTAAGGTTACATAAGCAGTGAGAGAAAAAACTTCACTCTGTTCAAATAATA... | GTAAAGGACAAAAGGAAAGAGAGAAAATCATCACCTAGTAAGGAAAATGAGTCAAGCGACAGTGAAGAAGAAGTTTCCAGGCCTCGGAAGTCACGGAAACGTGTAGATTCAGATTCAGATTCAGATTCAGAAGACGATATAAATTCAGTGATGAAATGTTTGCCAGAAAATTCAGCTCCTTTAATCGAATTTGCAAATGTGTCCCAGGGTATTTTATTACTTCTCATGTTAAAACAACATTTGAAGAATCTTTGTGGATTTTCTGATAGGTAAGGTTACATAAGCAGTGAGAGAAAAAACTTCACTCTGTTCAAATAATA... | pathogenic | 91,982 |
Evaluate this variant at chromosome 5, position 37064796, gene NIPBL (NIPBL cohesin loading factor): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cornelia_de_Lange_syndrome_1'] | TGTCTCTACAAAAAATACAAACATTAGCCAGACATGGCGGTGTGCACCTGTAGTCCCAACTGCTGGGGAGGCTGAGGTGGGAGGACCACCTAAGCCTGGGAGGTGGAGGCTACAGTGAGCCATGATCGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACCCTGTCTCAATTTAAAAAGAAAAAAAAAAAGGGTTAAGCTGGCAAATTTTATGATATTTCTATTTTATCACAATATAAAAGTTTTTAAAAATGTTTTTGAAATTAGAGGACTATCCTAAAAAATAAAAATAAAGTTTTATATTTTAATCTACTTAA... | TGTCTCTACAAAAAATACAAACATTAGCCAGACATGGCGGTGTGCACCTGTAGTCCCAACTGCTGGGGAGGCTGAGGTGGGAGGACCACCTAAGCCTGGGAGGTGGAGGCTACAGTGAGCCATGATCGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACCCTGTCTCAATTTAAAAAGAAAAAAAAAAAGGGTTAAGCTGGCAAATTTTATGATATTTCTATTTTATCACAATATAAAAGTTTTTAAAAATGTTTTTGAAATTAGAGGACTATCCTAAAAAATAAAAATAAAGTTTTATATTTTAATCTACTTAA... | pathogenic | 91,990 |
Clinical significance of chromosome 5, position 37064967, gene NIPBL (NIPBL cohesin loading factor): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CAATTTAAAAAGAAAAAAAAAAAGGGTTAAGCTGGCAAATTTTATGATATTTCTATTTTATCACAATATAAAAGTTTTTAAAAATGTTTTTGAAATTAGAGGACTATCCTAAAAAATAAAAATAAAGTTTTATATTTTAATCTACTTAATTTCAGGTGTAGTGGCTCACAAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTCGAGGCCAGAGGTTTGACACCAGTTTGGCCAACATTGCAAAACCCCATTTCTATTTTTCTTAAAAAAATTTTTAAAAATCTACTTTAAAGCAAGTAGCTGAACATAAAATAAGGTTT... | CAATTTAAAAAGAAAAAAAAAAAGGGTTAAGCTGGCAAATTTTATGATATTTCTATTTTATCACAATATAAAAGTTTTTAAAAATGTTTTTGAAATTAGAGGACTATCCTAAAAAATAAAAATAAAGTTTTATATTTTAATCTACTTAATTTCAGGTGTAGTGGCTCACAAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTCGAGGCCAGAGGTTTGACACCAGTTTGGCCAACATTGCAAAACCCCATTTCTATTTTTCTTAAAAAAATTTTTAAAAATCTACTTTAAAGCAAGTAGCTGAACATAAAATAAGGTTT... | benign | 91,994 |
Clinical classification of chromosome 5, position 37065171, gene NIPBL (NIPBL cohesin loading factor): benign or pathogenic? Disease(s) if pathogenic? | benign | GAGGCCAGAGGTTTGACACCAGTTTGGCCAACATTGCAAAACCCCATTTCTATTTTTCTTAAAAAAATTTTTAAAAATCTACTTTAAAGCAAGTAGCTGAACATAAAATAAGGTTTTTTGAACTAAGAATATAATCTACACAGTGGCTTTTCATATTATTCATTGACTGCAAACCTTACTCTAAAATTTAAAAATATTTTAGTTCTTATTTAAAATTTTTCAACATTCTTTGCTTTCTCTTGTATCGTCTTAGCAGAGAGCAAAGAGGGGAGATAACTAGAAAATGTCTATCAGTAATTATCACCTGATTGCTTGATGAC... | GAGGCCAGAGGTTTGACACCAGTTTGGCCAACATTGCAAAACCCCATTTCTATTTTTCTTAAAAAAATTTTTAAAAATCTACTTTAAAGCAAGTAGCTGAACATAAAATAAGGTTTTTTGAACTAAGAATATAATCTACACAGTGGCTTTTCATATTATTCATTGACTGCAAACCTTACTCTAAAATTTAAAAATATTTTAGTTCTTATTTAAAATTTTTCAACATTCTTTGCTTTCTCTTGTATCGTCTTAGCAGAGAGCAAAGAGGGGAGATAACTAGAAAATGTCTATCAGTAATTATCACCTGATTGCTTGATGAC... | benign | 91,995 |
Evaluate the clinical significance of the mutation at chromosome 5, position 37108430 in gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | ATCCCAATTACCCTGATTTGATTGCTACACATTGTATGCACATATCAAAATATCACATGCACCCCATAAAAATGTACAACTATCATGTATCAATAAAATACCCATAGAATATACAAAAAAGAAACTAACAGAAAACAATTTAAAATATTTTAAATGACAAAACAATTAAATGACAATTAACAATAATGTTAGCCTATAAAGCTATTTTCTAAAACAATTTGGTAAGGAGAGTAGCATTGTTTTATAGTTCTACAAATCTCTTTAATGTTTAGCTTGATAGAAGGCAGCTGAATTACCATACCTGCTTCTGCATTCAACTT... | ATCCCAATTACCCTGATTTGATTGCTACACATTGTATGCACATATCAAAATATCACATGCACCCCATAAAAATGTACAACTATCATGTATCAATAAAATACCCATAGAATATACAAAAAAGAAACTAACAGAAAACAATTTAAAATATTTTAAATGACAAAACAATTAAATGACAATTAACAATAATGTTAGCCTATAAAGCTATTTTCTAAAACAATTTGGTAAGGAGAGTAGCATTGTTTTATAGTTCTACAAATCTCTTTAATGTTTAGCTTGATAGAAGGCAGCTGAATTACCATACCTGCTTCTGCATTCAACTT... | pathogenic | 91,997 |
Does the chromosome 5 mutation at position 37139372 within gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TTATTGTCCATATTGCTATCAGGCTTTTGGTCAAAGCCATTCAACAAGTCTCTAGGAAGTTCCAAACTTTCCCACATCTTCCTGTCTTCTTCTGAGTCCTACAAACTGTTCCAACCTCTGCCTGTTACCCAGTTCCAAAGTCGCTTCCACATTTTCAGGTATTTTTACAGTAGCACCCCACTCTCTGCAGCACCAATTTACTATATTAGTCTGTTCTTACACTGCTAAATAAGACATACCTGAGACTGAACAATTTATAAACGAAAGAGGTGTAATTAACTCACAGTTCAGCATGGCTGGGGAGGCCTCAGGAAACTTAC... | TTATTGTCCATATTGCTATCAGGCTTTTGGTCAAAGCCATTCAACAAGTCTCTAGGAAGTTCCAAACTTTCCCACATCTTCCTGTCTTCTTCTGAGTCCTACAAACTGTTCCAACCTCTGCCTGTTACCCAGTTCCAAAGTCGCTTCCACATTTTCAGGTATTTTTACAGTAGCACCCCACTCTCTGCAGCACCAATTTACTATATTAGTCTGTTCTTACACTGCTAAATAAGACATACCTGAGACTGAACAATTTATAAACGAAAGAGGTGTAATTAACTCACAGTTCAGCATGGCTGGGGAGGCCTCAGGAAACTTAC... | benign | 92,021 |
Regarding the variant at chromosome 5 and position 37148216, affecting gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['CPLANE1-related_disorder', 'Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | GTAATAATTAAAAAGCTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGACTCACTGCAAGCTCCGCCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCACCCGCCACCACACCAGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTTTCGAACTCCTGATCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTAAAAGACTAT... | GTAATAATTAAAAAGCTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGACTCACTGCAAGCTCCGCCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCACCCGCCACCACACCAGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTTTCGAACTCCTGATCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTAAAAGACTAT... | pathogenic | 92,028 |
The genetic variant at chromosome 5, position 37148216, affecting gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Global_developmental_delay', 'Jaundice', 'Joubert_syndrome_17'] | GTAATAATTAAAAAGCTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGACTCACTGCAAGCTCCGCCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCACCCGCCACCACACCAGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTTTCGAACTCCTGATCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTAAAAGACTAT... | GTAATAATTAAAAAGCTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGACTCACTGCAAGCTCCGCCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCACCCGCCACCACACCAGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTTTCGAACTCCTGATCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTAAAAGACTAT... | pathogenic | 92,029 |
Variant at chromosome 5, position 37148216, gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Inborn_genetic_diseases', 'Joubert_syndrome_and_related_disorders'] | GTAATAATTAAAAAGCTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGACTCACTGCAAGCTCCGCCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCACCCGCCACCACACCAGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTTTCGAACTCCTGATCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTAAAAGACTAT... | GTAATAATTAAAAAGCTTTTTTTTTTTTCGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGACTCACTGCAAGCTCCGCCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCACCCGCCACCACACCAGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTTTCGAACTCCTGATCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTAAAAGACTAT... | pathogenic | 92,030 |
Mutation found at chromosome 5 position 37153961, gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Global_developmental_delay', 'Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6', 'Typical_Joubert_syndrome_MRI_findings'] | ATAAGCATCATAGTATCATTACTTAGTATTAATATTTTTAGCAGTAGTCCTGCCTCATAACCTTTCAGTATAGTTTCACATATGCTTAATCTTTATTTTTAAATGTGTTAAATGTTTGGATTAAAGGTGTACTATAAACCTAATAAATACATTTTTTAAATGTCAACATGCTAGCAACCTGGAATTTTTGTAAGGTAAGTCAATAATGGAATTCTTATCCTGCAGACTATTTTGCATTTCCCAATATTAGACTTTAAGACATTTAACTTTGTTTTTTTTTAAGAGGCAGGGTCTTGCTCTGACACCCAGGCTACAGTGCA... | ATAAGCATCATAGTATCATTACTTAGTATTAATATTTTTAGCAGTAGTCCTGCCTCATAACCTTTCAGTATAGTTTCACATATGCTTAATCTTTATTTTTAAATGTGTTAAATGTTTGGATTAAAGGTGTACTATAAACCTAATAAATACATTTTTTAAATGTCAACATGCTAGCAACCTGGAATTTTTGTAAGGTAAGTCAATAATGGAATTCTTATCCTGCAGACTATTTTGCATTTCCCAATATTAGACTTTAAGACATTTAACTTTGTTTTTTTTTAAGAGGCAGGGTCTTGCTCTGACACCCAGGCTACAGTGCA... | pathogenic | 92,036 |
Variant chromosome 5, position 37157657, gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): benign or pathogenic? Disease(s)? | benign | AAGAAATCCACCCGCCTTAGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACCACACCCAGCCAAACTTTAATTTTCTCAAACTAAGCAAGTTCCATTAACTTACTGCAAAATCTATTCTCTCTGTCTGATAAATGAAATTAATCTGTAGCTTATGGTCATTTGAAATGCTGGCCTAACATACTCAGGGGTCACAGAGAGAAAAGTAAAACGTATCTAAGCTATTAAATGACAGAGCTGGGATTCAAATCCAGGTCTGTTCTATGTGAATCTAAAAGCCAGGCTCCTTTCACTTTCCCACATACTTCCCCTGTCTGA... | AAGAAATCCACCCGCCTTAGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACCACACCCAGCCAAACTTTAATTTTCTCAAACTAAGCAAGTTCCATTAACTTACTGCAAAATCTATTCTCTCTGTCTGATAAATGAAATTAATCTGTAGCTTATGGTCATTTGAAATGCTGGCCTAACATACTCAGGGGTCACAGAGAGAAAAGTAAAACGTATCTAAGCTATTAAATGACAGAGCTGGGATTCAAATCCAGGTCTGTTCTATGTGAATCTAAAAGCCAGGCTCCTTTCACTTTCCCACATACTTCCCCTGTCTGA... | benign | 92,039 |
Mutation at chromosome 5, position 37168991, within CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | TTGTGTATAGCCTAGGAGACTGAACCAGATTACTGTGTGATTATAAATAATAATGAACTTGCTGATATATGATATTATCAAATAAAATTTCACTTAAGCCTTGCCTTTTTTTACTGTCCTTTCCTTGTCTTACTTCAGGTGGTTCTATTTTGACCTTTAGAAGTTGAAGGTGTCCAGCATCACCTTGTTCAAATAAATTATGTGTTAGTTTCTGTTGGCTTTGTTTAAACGCAATGAGGTTTTCAAGTGGGATAAGTTGTGTTTTTTTGCACTACAAGAAAGAAACAAAGCATAAGAATGACAAATTGCAAACTCAATTA... | TTGTGTATAGCCTAGGAGACTGAACCAGATTACTGTGTGATTATAAATAATAATGAACTTGCTGATATATGATATTATCAAATAAAATTTCACTTAAGCCTTGCCTTTTTTTACTGTCCTTTCCTTGTCTTACTTCAGGTGGTTCTATTTTGACCTTTAGAAGTTGAAGGTGTCCAGCATCACCTTGTTCAAATAAATTATGTGTTAGTTTCTGTTGGCTTTGTTTAAACGCAATGAGGTTTTCAAGTGGGATAAGTTGTGTTTTTTTGCACTACAAGAAAGAAACAAAGCATAAGAATGACAAATTGCAAACTCAATTA... | pathogenic | 92,061 |
Does the chromosome 5 mutation at position 37169546 within gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | GCCAAGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGACGGGCTGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCCCTACTAAAGATATAAAAAATTATCCAGGCATTGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGTTGGAGGTTGCAGTGAGCTGAGATGGCGCCATTACACTCCAGCCTGGTGACAGGGCAAGGCTCCGTCTCATACATAAAAACAAAAAAAACCTTTCCTCTTATAAATGAAA... | GCCAAGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGACGGGCTGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCCCTACTAAAGATATAAAAAATTATCCAGGCATTGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGTTGGAGGTTGCAGTGAGCTGAGATGGCGCCATTACACTCCAGCCTGGTGACAGGGCAAGGCTCCGTCTCATACATAAAAACAAAAAAAACCTTTCCTCTTATAAATGAAA... | pathogenic | 92,067 |
Is the chromosome 5, position 37170148 variant in CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | GTACTGCTCTCCTCAAAACTAGAGCCTAAACCATTTTAATTTCATAAATCAAAAGTTATACCTTTAAAGAGGACTTGGTGGGTTTATAAAACTACCATTTTAATATATATGCTACTAATCACAGATTCTGGGTCTATTTAACAAATTTAACCTGTCAAAGATTTGAAGATCATACAATAATTGCTAGGAACCTCAAACAATATGTGTGCTCACTTGCTCTCCACTCTACACACACATAAACAAGAGCATCTGGTAATTTTTTTGCTTTCTTTTTTGAGTGTTTAAATCTGACACAGAGTACCTGGTAATTTTACTTCTTA... | GTACTGCTCTCCTCAAAACTAGAGCCTAAACCATTTTAATTTCATAAATCAAAAGTTATACCTTTAAAGAGGACTTGGTGGGTTTATAAAACTACCATTTTAATATATATGCTACTAATCACAGATTCTGGGTCTATTTAACAAATTTAACCTGTCAAAGATTTGAAGATCATACAATAATTGCTAGGAACCTCAAACAATATGTGTGCTCACTTGCTCTCCACTCTACACACACATAAACAAGAGCATCTGGTAATTTTTTTGCTTTCTTTTTTGAGTGTTTAAATCTGACACAGAGTACCTGGTAATTTTACTTCTTA... | pathogenic | 92,072 |
Gene mutation in CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1) at chromosome 5, position 37170232—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Joubert_syndrome_17'] | TATAAAACTACCATTTTAATATATATGCTACTAATCACAGATTCTGGGTCTATTTAACAAATTTAACCTGTCAAAGATTTGAAGATCATACAATAATTGCTAGGAACCTCAAACAATATGTGTGCTCACTTGCTCTCCACTCTACACACACATAAACAAGAGCATCTGGTAATTTTTTTGCTTTCTTTTTTGAGTGTTTAAATCTGACACAGAGTACCTGGTAATTTTACTTCTTATTTCTTCCCAGAGCAGCAGAAATATTTATGAAAGAGTCCAGTAAATTCCAGTATTGATAGAAAGACCTAAAACCTTTAAAATAC... | TATAAAACTACCATTTTAATATATATGCTACTAATCACAGATTCTGGGTCTATTTAACAAATTTAACCTGTCAAAGATTTGAAGATCATACAATAATTGCTAGGAACCTCAAACAATATGTGTGCTCACTTGCTCTCCACTCTACACACACATAAACAAGAGCATCTGGTAATTTTTTTGCTTTCTTTTTTGAGTGTTTAAATCTGACACAGAGTACCTGGTAATTTTACTTCTTATTTCTTCCCAGAGCAGCAGAAATATTTATGAAAGAGTCCAGTAAATTCCAGTATTGATAGAAAGACCTAAAACCTTTAAAATAC... | pathogenic | 92,074 |
Regarding the variant found on chromosome 5 at position 37177648 in gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | CAGTTAGAAGCTGAAAATGAGCAACAACTTCATCTTTCAATAATATATCACTACTTTTTTTCAGAAAAGACTGTTCAACATAGTTCCTGTGTAACTTTAAAATACAATCGCTAGTGGAAACTCAGTAATGAAAGATGTCAGATCTGTGTGCTTATGCTGCTCTTTCAATGTTTTATGTTGCTTTCATTTTTCTTAGTTTTTAGTCAAAATGTAGCAATTGTTTCAAAAATGGTACAGTCGGCATACTTTCACTCTGTGATTTGTAAAACACAACTATTTTTAAATGGTATAGTAGGCAAAACTTCTTACCTAGAAATTTC... | CAGTTAGAAGCTGAAAATGAGCAACAACTTCATCTTTCAATAATATATCACTACTTTTTTTCAGAAAAGACTGTTCAACATAGTTCCTGTGTAACTTTAAAATACAATCGCTAGTGGAAACTCAGTAATGAAAGATGTCAGATCTGTGTGCTTATGCTGCTCTTTCAATGTTTTATGTTGCTTTCATTTTTCTTAGTTTTTAGTCAAAATGTAGCAATTGTTTCAAAAATGGTACAGTCGGCATACTTTCACTCTGTGATTTGTAAAACACAACTATTTTTAAATGGTATAGTAGGCAAAACTTCTTACCTAGAAATTTC... | pathogenic | 92,082 |
Gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1) variant at chromosome position 37180085 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | CTTTTTTGAAAGAATTGTTACAAGGCAGGCAGATCTACTTGAGGTCAGGAGCTCAAGATCAGCCTGGCCAACATGGTGAAACTCTGTCTCTATAAAAAAATACAAAAAATTAGTCAGGCATGGTGGCGCATACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGTGGAAGCTGCAGTTAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAATAAAAATAAAAATAAAAATAAAAAAGAATTGTTACAACAGATAGGGCACGGTGGCTCACACC... | CTTTTTTGAAAGAATTGTTACAAGGCAGGCAGATCTACTTGAGGTCAGGAGCTCAAGATCAGCCTGGCCAACATGGTGAAACTCTGTCTCTATAAAAAAATACAAAAAATTAGTCAGGCATGGTGGCGCATACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGTGGAAGCTGCAGTTAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAATAAAAATAAAAATAAAAATAAAAAAGAATTGTTACAACAGATAGGGCACGGTGGCTCACACC... | pathogenic | 92,089 |
Does the variant on chromosome 5 at location 37180159 affecting gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Orofaciodigital_syndrome_type_6'] | GGTGAAACTCTGTCTCTATAAAAAAATACAAAAAATTAGTCAGGCATGGTGGCGCATACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGTGGAAGCTGCAGTTAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAATAAAAATAAAAATAAAAATAAAAAAGAATTGTTACAACAGATAGGGCACGGTGGCTCACACCTGTAATTTCAGCACTTTGAGAGGTTGAGGCTAGGAGTTCAAGACCAGCCTAAGCAACATAGCAAGGCCCAGTCT... | GGTGAAACTCTGTCTCTATAAAAAAATACAAAAAATTAGTCAGGCATGGTGGCGCATACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGTGGAAGCTGCAGTTAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAATAAAAATAAAAATAAAAATAAAAAAGAATTGTTACAACAGATAGGGCACGGTGGCTCACACCTGTAATTTCAGCACTTTGAGAGGTTGAGGCTAGGAGTTCAAGACCAGCCTAAGCAACATAGCAAGGCCCAGTCT... | pathogenic | 92,090 |
Clinically, how would you classify the variant at chromosome 5, position 37184871, gene CPLANE1: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | TGTAAGAATGGCAGCTGTAGAGGTCTTTACACGAATTACTGGACTGTACTCAGAGGATGACTCAGTTATACCAGAATCACAGAGTAGCCTTCTATTAGACCACCTTATCATCCATTCCAGCAGTCTTCCTATACTGCCAAAAGTGTTTAGTGCTAAAGGAAGATCTTCTTGAGGGTTAATATCATTGCACTGAATAGCTTTGAAAATACATCTTCTAGTTTTAATGGACTTGGGAGTCCAAAAAATGTGGTTTGATGATCTCTGGATTAGACATTTCTCTCTAGTGTCATCTTGTATTTTGTAAATTGACCTTTGTTTTA... | TGTAAGAATGGCAGCTGTAGAGGTCTTTACACGAATTACTGGACTGTACTCAGAGGATGACTCAGTTATACCAGAATCACAGAGTAGCCTTCTATTAGACCACCTTATCATCCATTCCAGCAGTCTTCCTATACTGCCAAAAGTGTTTAGTGCTAAAGGAAGATCTTCTTGAGGGTTAATATCATTGCACTGAATAGCTTTGAAAATACATCTTCTAGTTTTAATGGACTTGGGAGTCCAAAAAATGTGGTTTGATGATCTCTGGATTAGACATTTCTCTCTAGTGTCATCTTGTATTTTGTAAATTGACCTTTGTTTTA... | pathogenic | 92,109 |
The mutation in gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1) at chromosome 5, position 37185087—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGTTTTAATGGACTTGGGAGTCCAAAAAATGTGGTTTGATGATCTCTGGATTAGACATTTCTCTCTAGTGTCATCTTGTATTTTGTAAATTGACCTTTGTTTTAAACCAAATAATCCACTCATTCCTTCATTCTTATTGACTTCATTCGAAGGATATTGTAAAAAAGGTTTGATCCCTTGATTAACCAGTACTGATGATGAAAGTTTCTGGTTTTCTAAATGCATGCCATATTCATCATTTAAAGAGGATGATTTTTCTGATTCATAGGACTCAGGAGCAACAACAAAGCAAGAACCAGCTCTAAACACATTCTGGCTTT... | AGTTTTAATGGACTTGGGAGTCCAAAAAATGTGGTTTGATGATCTCTGGATTAGACATTTCTCTCTAGTGTCATCTTGTATTTTGTAAATTGACCTTTGTTTTAAACCAAATAATCCACTCATTCCTTCATTCTTATTGACTTCATTCGAAGGATATTGTAAAAAAGGTTTGATCCCTTGATTAACCAGTACTGATGATGAAAGTTTCTGGTTTTCTAAATGCATGCCATATTCATCATTTAAAGAGGATGATTTTTCTGATTCATAGGACTCAGGAGCAACAACAAAGCAAGAACCAGCTCTAAACACATTCTGGCTTT... | benign | 92,113 |
Regarding the variant at chromosome 5 and position 37186319, affecting gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Joubert_syndrome_17'] | TTCTCAACATGATTCCTAGGGCAGAACACAGATCCTTAGTTCCCTCAGTAAGAGAACAGGTGTTGGCCACCTGGGCTGAAAGCATCCCATCCCTTCTGATTGAGGCAATTTCCTTCCCTGAAATATTTCCCTTAAAAATATTAAGGAAATTTAAGGAAAAATTTCCTTAAAAATAATATGGCTAACTCAGTAACCTCAAACTATTTAAGTCTAAAGATTACTAAAAAAAACTGAAAGTCCTCCAGTGAAGTGTAGAATTTCATCTACTCCTTTGATTTTATAATTTCAGATGGCAAAATTATTTCATATATCAATAATAC... | TTCTCAACATGATTCCTAGGGCAGAACACAGATCCTTAGTTCCCTCAGTAAGAGAACAGGTGTTGGCCACCTGGGCTGAAAGCATCCCATCCCTTCTGATTGAGGCAATTTCCTTCCCTGAAATATTTCCCTTAAAAATATTAAGGAAATTTAAGGAAAAATTTCCTTAAAAATAATATGGCTAACTCAGTAACCTCAAACTATTTAAGTCTAAAGATTACTAAAAAAAACTGAAAGTCCTCCAGTGAAGTGTAGAATTTCATCTACTCCTTTGATTTTATAATTTCAGATGGCAAAATTATTTCATATATCAATAATAC... | pathogenic | 92,114 |
Is chromosome 5, position 37187824, gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | TTTTAAATGGCTAAAATGGTAAATTTTATATTATATGCATTTTACCACAGTAAGAAATGTGTGTATTCTAATTTTGAAGAACAAAATTAGAAGCATAAATAACCATAAAGGGAAATTACTTGTTTTCAACAAATACTTGCAATATACAAAGTACCATATGCTCATTTTATATTATCTTACTTAATCCTCTCTGAATACACATCATAAAGCAGGTAATACTATGCCCACTTTACAAATAAAGATATGAGGCTCAGAGAGACTGAGCAACTTGCCTAAGATCGCACAGTTACTGACTGACAGAGCCATGAGCCGAAGTCAGC... | TTTTAAATGGCTAAAATGGTAAATTTTATATTATATGCATTTTACCACAGTAAGAAATGTGTGTATTCTAATTTTGAAGAACAAAATTAGAAGCATAAATAACCATAAAGGGAAATTACTTGTTTTCAACAAATACTTGCAATATACAAAGTACCATATGCTCATTTTATATTATCTTACTTAATCCTCTCTGAATACACATCATAAAGCAGGTAATACTATGCCCACTTTACAAATAAAGATATGAGGCTCAGAGAGACTGAGCAACTTGCCTAAGATCGCACAGTTACTGACTGACAGAGCCATGAGCCGAAGTCAGC... | pathogenic | 92,121 |
Does the genetic variant at chromosome 5, position 37195999, impacting gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TCGTCCTGTCACCCAGGCTGGAGTACAATGGTGCAATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCTCGAGTAGCTGGGATTACAGGTGCACACCACTATGCCTGGCTAATTTTTTGCATATTTTAGTAGAGACAGGGTTTTACCATGCTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCAACTCATCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAAAGGAAACTTTTTAATCTAGCCAAATCACTTCTCAACAATCAAGAG... | TCGTCCTGTCACCCAGGCTGGAGTACAATGGTGCAATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCTCGAGTAGCTGGGATTACAGGTGCACACCACTATGCCTGGCTAATTTTTTGCATATTTTAGTAGAGACAGGGTTTTACCATGCTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCAACTCATCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAGAAAGGAAACTTTTTAATCTAGCCAAATCACTTCTCAACAATCAAGAG... | benign | 92,126 |
The chromosome 5, position 37198828 genetic variant in gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | TTGGGCGAGGTGGCAGGCGCCTGTAGTCCCAGGTACTCAGGAGGCTGAGGCAGGAGAATCACTTAAACCCGGGAGCCGGAGGTTGCGGTGAGCCGAGACCATGCCACTGCACCCAGCCTGGGCGACAGAGTGAGATGCTGTCTCAAAAAAGAAAAAAGGAAAAAAAAAAAGAAAATTTGAACTCCAATCTATTTAAACCTCTCTACCTCAATGAGCACAGATTAATGACCGGGTTACAGGGGTAAAAAAAGGAAAGAGAAACAAGCTAAACGACACTAAATGAAGAAACGATCAGACAAATCTAGAATATGGTGCAGGAA... | TTGGGCGAGGTGGCAGGCGCCTGTAGTCCCAGGTACTCAGGAGGCTGAGGCAGGAGAATCACTTAAACCCGGGAGCCGGAGGTTGCGGTGAGCCGAGACCATGCCACTGCACCCAGCCTGGGCGACAGAGTGAGATGCTGTCTCAAAAAAGAAAAAAGGAAAAAAAAAAAGAAAATTTGAACTCCAATCTATTTAAACCTCTCTACCTCAATGAGCACAGATTAATGACCGGGTTACAGGGGTAAAAAAAGGAAAGAGAAACAAGCTAAACGACACTAAATGAAGAAACGATCAGACAAATCTAGAATATGGTGCAGGAA... | pathogenic | 92,130 |
Located at chromosome 5 position 37201690, the variant affecting gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | CAGTAGCTAAAGATTATTTTCCCAGATAATGAGATAATGTGAGCATTGTAAACATCTGCTTCCCCAACATCCTTCTTCCCTGCCCACTTCTTAACAGTACTCAGTTTTTGAGTATCTGCCCATCTCCTACATGGCTCATATGATTGAGGGAAAGCTCATCCCACCTCAAGGAAGGATCTATTCACAGGCCAAGCAGTACCTTGTGTTAAGCCTAGCCACAGTGACTGTTTAAAGGACAGGCATGTGACCCAAGCCAGTCTCACTAAGAGTGAATCTCAATCCTCTTGCTTGGAATGCTGGGACAGAAATAATTTTGCCAC... | CAGTAGCTAAAGATTATTTTCCCAGATAATGAGATAATGTGAGCATTGTAAACATCTGCTTCCCCAACATCCTTCTTCCCTGCCCACTTCTTAACAGTACTCAGTTTTTGAGTATCTGCCCATCTCCTACATGGCTCATATGATTGAGGGAAAGCTCATCCCACCTCAAGGAAGGATCTATTCACAGGCCAAGCAGTACCTTGTGTTAAGCCTAGCCACAGTGACTGTTTAAAGGACAGGCATGTGACCCAAGCCAGTCTCACTAAGAGTGAATCTCAATCCTCTTGCTTGGAATGCTGGGACAGAAATAATTTTGCCAC... | pathogenic | 92,135 |
Evaluate the clinical significance of the mutation at chromosome 5, position 37206215 in gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['CPLANE1-related_disorder', 'Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | GATTAAAGCAAAAGAACTGCACAGAAAATTATCAAAGAAAAGTTTATAGTCAGATTTCCAAGCATTATAGGTTCTCTCAAAACAGAAATGTTATAAGTTTTAGGAATCTAGAGTTAGAAGTCTCACTCTTTACTGGAGCAAAGCACCAATAAAAACAGAAGGGCCTCACAGTTGCCCTGGTTTTACATTAAATATACGACATTAAATGACTGATTTCATTACTTTTTATCTAAATTTCTCCAACTGTAAAACAGATAAATTTTATAGGATTCCTGTGTGAATCCATGTAATACATGTAATATTCTATCATTTTTAATTTT... | GATTAAAGCAAAAGAACTGCACAGAAAATTATCAAAGAAAAGTTTATAGTCAGATTTCCAAGCATTATAGGTTCTCTCAAAACAGAAATGTTATAAGTTTTAGGAATCTAGAGTTAGAAGTCTCACTCTTTACTGGAGCAAAGCACCAATAAAAACAGAAGGGCCTCACAGTTGCCCTGGTTTTACATTAAATATACGACATTAAATGACTGATTTCATTACTTTTTATCTAAATTTCTCCAACTGTAAAACAGATAAATTTTATAGGATTCCTGTGTGAATCCATGTAATACATGTAATATTCTATCATTTTTAATTTT... | pathogenic | 92,145 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 37206250, gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_aplasia_of_the_vermis'] | AGAAAAGTTTATAGTCAGATTTCCAAGCATTATAGGTTCTCTCAAAACAGAAATGTTATAAGTTTTAGGAATCTAGAGTTAGAAGTCTCACTCTTTACTGGAGCAAAGCACCAATAAAAACAGAAGGGCCTCACAGTTGCCCTGGTTTTACATTAAATATACGACATTAAATGACTGATTTCATTACTTTTTATCTAAATTTCTCCAACTGTAAAACAGATAAATTTTATAGGATTCCTGTGTGAATCCATGTAATACATGTAATATTCTATCATTTTTAATTTTTTAATACCATTTTGAACTTTTCAAATAAAAAAGAT... | AGAAAAGTTTATAGTCAGATTTCCAAGCATTATAGGTTCTCTCAAAACAGAAATGTTATAAGTTTTAGGAATCTAGAGTTAGAAGTCTCACTCTTTACTGGAGCAAAGCACCAATAAAAACAGAAGGGCCTCACAGTTGCCCTGGTTTTACATTAAATATACGACATTAAATGACTGATTTCATTACTTTTTATCTAAATTTCTCCAACTGTAAAACAGATAAATTTTATAGGATTCCTGTGTGAATCCATGTAATACATGTAATATTCTATCATTTTTAATTTTTTAATACCATTTTGAACTTTTCAAATAAAAAAGAT... | pathogenic | 92,146 |
The mutation impacting CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1) on chromosome 5 at position 37206286: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Joubert_syndrome_17', 'Joubert_syndrome_and_related_disorders'] | TTCTCTCAAAACAGAAATGTTATAAGTTTTAGGAATCTAGAGTTAGAAGTCTCACTCTTTACTGGAGCAAAGCACCAATAAAAACAGAAGGGCCTCACAGTTGCCCTGGTTTTACATTAAATATACGACATTAAATGACTGATTTCATTACTTTTTATCTAAATTTCTCCAACTGTAAAACAGATAAATTTTATAGGATTCCTGTGTGAATCCATGTAATACATGTAATATTCTATCATTTTTAATTTTTTAATACCATTTTGAACTTTTCAAATAAAAAAGATCTATAATTTATGCACTAGGTGAGAGTTGAAATAAAT... | TTCTCTCAAAACAGAAATGTTATAAGTTTTAGGAATCTAGAGTTAGAAGTCTCACTCTTTACTGGAGCAAAGCACCAATAAAAACAGAAGGGCCTCACAGTTGCCCTGGTTTTACATTAAATATACGACATTAAATGACTGATTTCATTACTTTTTATCTAAATTTCTCCAACTGTAAAACAGATAAATTTTATAGGATTCCTGTGTGAATCCATGTAATACATGTAATATTCTATCATTTTTAATTTTTTAATACCATTTTGAACTTTTCAAATAAAAAAGATCTATAATTTATGCACTAGGTGAGAGTTGAAATAAAT... | pathogenic | 92,147 |
The mutation impacting CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1) on chromosome 5 at position 37206408: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Joubert_syndrome_17', 'Joubert_syndrome_and_related_disorders', 'Orofaciodigital_syndrome_type_6'] | ATACGACATTAAATGACTGATTTCATTACTTTTTATCTAAATTTCTCCAACTGTAAAACAGATAAATTTTATAGGATTCCTGTGTGAATCCATGTAATACATGTAATATTCTATCATTTTTAATTTTTTAATACCATTTTGAACTTTTCAAATAAAAAAGATCTATAATTTATGCACTAGGTGAGAGTTGAAATAAATCACTCCTAAGTACCCTTCCAGGCTTGAGATTCTACAGCTCCAAAAGAAAATGATACAAATGAAGCGAAATATAATTAGTGTAAAGGTATGTATGAAGGCTACTCTCAACATAGTCTCTGGGG... | ATACGACATTAAATGACTGATTTCATTACTTTTTATCTAAATTTCTCCAACTGTAAAACAGATAAATTTTATAGGATTCCTGTGTGAATCCATGTAATACATGTAATATTCTATCATTTTTAATTTTTTAATACCATTTTGAACTTTTCAAATAAAAAAGATCTATAATTTATGCACTAGGTGAGAGTTGAAATAAATCACTCCTAAGTACCCTTCCAGGCTTGAGATTCTACAGCTCCAAAAGAAAATGATACAAATGAAGCGAAATATAATTAGTGTAAAGGTATGTATGAAGGCTACTCTCAACATAGTCTCTGGGG... | pathogenic | 92,150 |
Chromosome 5, position 37213580, gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Joubert_syndrome_1', 'Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | CTCAAGGCTATGCGGGGGCACTTCCTCCAGACGCCTCTCCTCCACACCCCTTCCAAAAGCAAAAAGAAGCCTTGAAAGTGAAATATATCTGGAAGGTCTGGGCAGATCACACATTGCTTCCCCCAGTCCTTATCCTGACAGAATGCCCCCGCCATCACCCGCTGAGTCTAGGCACAACCTCTCCATCCCTCCCTTCTCCAGCCCTCCGGAGCAGAAAGCGGGTCTTTACTGGAGACAAAATGAACTTCAAGACAAAAGTGAATTTTCAGATGCGGACAAGCTAGCTTTTAAGGATAACGAGGAATTTGAATCATCTTTTG... | CTCAAGGCTATGCGGGGGCACTTCCTCCAGACGCCTCTCCTCCACACCCCTTCCAAAAGCAAAAAGAAGCCTTGAAAGTGAAATATATCTGGAAGGTCTGGGCAGATCACACATTGCTTCCCCCAGTCCTTATCCTGACAGAATGCCCCCGCCATCACCCGCTGAGTCTAGGCACAACCTCTCCATCCCTCCCTTCTCCAGCCCTCCGGAGCAGAAAGCGGGTCTTTACTGGAGACAAAATGAACTTCAAGACAAAAGTGAATTTTCAGATGCGGACAAGCTAGCTTTTAAGGATAACGAGGAATTTGAATCATCTTTTG... | pathogenic | 92,154 |
Mutation found at chromosome 5 position 37221307, gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGTGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTCAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAAAGGTTGCAGTAAGCCAAGATCACGCCACTACACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAAAAAATTAGCCAGGCGTGAGGCACATGCCTGTGGTT... | GTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGTGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTCAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAAAGGTTGCAGTAAGCCAAGATCACGCCACTACACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAAAAAATTAGCCAGGCGTGAGGCACATGCCTGTGGTT... | benign | 92,155 |
For chromosome 5, position 37221307, gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGTGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTCAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAAAGGTTGCAGTAAGCCAAGATCACGCCACTACACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAAAAAATTAGCCAGGCGTGAGGCACATGCCTGTGGTT... | GTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGTGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTCAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAAAGGTTGCAGTAAGCCAAGATCACGCCACTACACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAAAAAATTAGCCAGGCGTGAGGCACATGCCTGTGGTT... | benign | 92,156 |
Determine whether the variant at chromosome 5, position 37221307, in gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGTGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTCAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAAAGGTTGCAGTAAGCCAAGATCACGCCACTACACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAAAAAATTAGCCAGGCGTGAGGCACATGCCTGTGGTT... | GTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGTGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTCAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAAAGGTTGCAGTAAGCCAAGATCACGCCACTACACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAAAAAATTAGCCAGGCGTGAGGCACATGCCTGTGGTT... | benign | 92,157 |
The mutation in gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1) at chromosome 5, position 37224537—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Joubert_syndrome_17', 'Joubert_syndrome_and_related_disorders', 'Orofaciodigital_syndrome_type_6'] | CCCAAACTGCAACTTCTGCCCTCCTTTCACAAAGGAAAGCCACTCTTTCTCTGTTGAAGCCACTGCTACTTTCAATCTCCATTACTAGAAGCCATTCCTAATGGATGTAGTTGTAAATGAAATTAAACAAAATGTCCATAATGGAACTCATTACAAAAACTTTTCTATACCCAGAACTTCAGATCTCAGTGAATGCTGCTCTTTTCATCCAGATGGACAATCCCCAAGTCAGAGAACTACACTAGCCTTCTTTCTCCAAATCTACTCAATCACAAGTAGACTGATCAAGCCTATTAAATAACTGTCAAATGTAACCTCTG... | CCCAAACTGCAACTTCTGCCCTCCTTTCACAAAGGAAAGCCACTCTTTCTCTGTTGAAGCCACTGCTACTTTCAATCTCCATTACTAGAAGCCATTCCTAATGGATGTAGTTGTAAATGAAATTAAACAAAATGTCCATAATGGAACTCATTACAAAAACTTTTCTATACCCAGAACTTCAGATCTCAGTGAATGCTGCTCTTTTCATCCAGATGGACAATCCCCAAGTCAGAGAACTACACTAGCCTTCTTTCTCCAAATCTACTCAATCACAAGTAGACTGATCAAGCCTATTAAATAACTGTCAAATGTAACCTCTG... | pathogenic | 92,165 |
Gene mutation in CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1) at chromosome 5, position 37224608—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Joubert_syndrome_and_related_disorders'] | TCAATCTCCATTACTAGAAGCCATTCCTAATGGATGTAGTTGTAAATGAAATTAAACAAAATGTCCATAATGGAACTCATTACAAAAACTTTTCTATACCCAGAACTTCAGATCTCAGTGAATGCTGCTCTTTTCATCCAGATGGACAATCCCCAAGTCAGAGAACTACACTAGCCTTCTTTCTCCAAATCTACTCAATCACAAGTAGACTGATCAAGCCTATTAAATAACTGTCAAATGTAACCTCTGTTCTCCATTACCCTTGACATTGCTTTGGTTTCAAGGCTTCTCGTCTGACTGATTTTCTTGCCTCCAAGTAA... | TCAATCTCCATTACTAGAAGCCATTCCTAATGGATGTAGTTGTAAATGAAATTAAACAAAATGTCCATAATGGAACTCATTACAAAAACTTTTCTATACCCAGAACTTCAGATCTCAGTGAATGCTGCTCTTTTCATCCAGATGGACAATCCCCAAGTCAGAGAACTACACTAGCCTTCTTTCTCCAAATCTACTCAATCACAAGTAGACTGATCAAGCCTATTAAATAACTGTCAAATGTAACCTCTGTTCTCCATTACCCTTGACATTGCTTTGGTTTCAAGGCTTCTCGTCTGACTGATTTTCTTGCCTCCAAGTAA... | pathogenic | 92,167 |
The genetic variant at chromosome 5, position 37226717, affecting gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | GGAACTCTTCGATTTAATTGTGCTTGATACCATAAAGTTTTTTTGTACAGTATTCTCCAGAGAATAAGCAATCTGCACATAAAATCAGGTAATTATCAAAAGCAAATTTCAGGCTAATGATGAGTTTAGCCTCCTTTTTAGCCTATTTTTTTTTTTGCCTGTATTCTTCATCGGTATAACATACATACAAACTGATCACATTTAAATATAGTGCAAAATAAAATGATTAAAAAATGCCTTATATAAAATCTTCATAAATATTTTAAGCACCTGTAATCTTTTTTTTTTTTTTTTTTTTAAGACACAAGGTCTCACTACGT... | GGAACTCTTCGATTTAATTGTGCTTGATACCATAAAGTTTTTTTGTACAGTATTCTCCAGAGAATAAGCAATCTGCACATAAAATCAGGTAATTATCAAAAGCAAATTTCAGGCTAATGATGAGTTTAGCCTCCTTTTTAGCCTATTTTTTTTTTTGCCTGTATTCTTCATCGGTATAACATACATACAAACTGATCACATTTAAATATAGTGCAAAATAAAATGATTAAAAAATGCCTTATATAAAATCTTCATAAATATTTTAAGCACCTGTAATCTTTTTTTTTTTTTTTTTTTTAAGACACAAGGTCTCACTACGT... | pathogenic | 92,177 |
Located at chromosome 5 position 37226775, the variant affecting gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Joubert_syndrome_17', 'Joubert_syndrome_and_related_disorders', 'Orofaciodigital_syndrome_type_6'] | AGAGAATAAGCAATCTGCACATAAAATCAGGTAATTATCAAAAGCAAATTTCAGGCTAATGATGAGTTTAGCCTCCTTTTTAGCCTATTTTTTTTTTTGCCTGTATTCTTCATCGGTATAACATACATACAAACTGATCACATTTAAATATAGTGCAAAATAAAATGATTAAAAAATGCCTTATATAAAATCTTCATAAATATTTTAAGCACCTGTAATCTTTTTTTTTTTTTTTTTTTTAAGACACAAGGTCTCACTACGTTGCCCAGACTGATCTCAAACTCCTGGGCCCAAGCGATCACCCTACCTCAGCCTCCCGA... | AGAGAATAAGCAATCTGCACATAAAATCAGGTAATTATCAAAAGCAAATTTCAGGCTAATGATGAGTTTAGCCTCCTTTTTAGCCTATTTTTTTTTTTGCCTGTATTCTTCATCGGTATAACATACATACAAACTGATCACATTTAAATATAGTGCAAAATAAAATGATTAAAAAATGCCTTATATAAAATCTTCATAAATATTTTAAGCACCTGTAATCTTTTTTTTTTTTTTTTTTTTAAGACACAAGGTCTCACTACGTTGCCCAGACTGATCTCAAACTCCTGGGCCCAAGCGATCACCCTACCTCAGCCTCCCGA... | pathogenic | 92,178 |
Considering the genetic mutation at chromosome 5, position 37226775, impacting CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['CPLANE1-related_disorder', 'Global_developmental_delay', 'Inborn_genetic_diseases', 'Jaundice', 'Joubert_syndrome_17', 'Nephronophthisis', 'Orofaciodigital_syndrome_type_6'] | AGAGAATAAGCAATCTGCACATAAAATCAGGTAATTATCAAAAGCAAATTTCAGGCTAATGATGAGTTTAGCCTCCTTTTTAGCCTATTTTTTTTTTTGCCTGTATTCTTCATCGGTATAACATACATACAAACTGATCACATTTAAATATAGTGCAAAATAAAATGATTAAAAAATGCCTTATATAAAATCTTCATAAATATTTTAAGCACCTGTAATCTTTTTTTTTTTTTTTTTTTTAAGACACAAGGTCTCACTACGTTGCCCAGACTGATCTCAAACTCCTGGGCCCAAGCGATCACCCTACCTCAGCCTCCCGA... | AGAGAATAAGCAATCTGCACATAAAATCAGGTAATTATCAAAAGCAAATTTCAGGCTAATGATGAGTTTAGCCTCCTTTTTAGCCTATTTTTTTTTTTGCCTGTATTCTTCATCGGTATAACATACATACAAACTGATCACATTTAAATATAGTGCAAAATAAAATGATTAAAAAATGCCTTATATAAAATCTTCATAAATATTTTAAGCACCTGTAATCTTTTTTTTTTTTTTTTTTTTAAGACACAAGGTCTCACTACGTTGCCCAGACTGATCTCAAACTCCTGGGCCCAAGCGATCACCCTACCTCAGCCTCCCGA... | pathogenic | 92,179 |
Does the variant on chromosome 5 at location 37227088 affecting gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CTCCCGAACAGGTGAGATTACAGGTATGTGCCACTGCACTCCAGCCTGGGAGACAGGGTCTTGCTCTGTTGCCAGGCTGAATTGCAGTGGCTCCATCACAGCTTACTGTAGCCTCAACCTCCTGGGTTCAAGCAATCCTCCCATCTCAGCCTCCCGGGCTCAAGCAATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGGTGCACCACACTGTTTTTTTTTTCTTTTCAGGCAAGGTCTCCTCCTGTCGCCCATGCTGGAATGCAGTGGCGTGATATCTGCTCAACCTCTGCCTCCTGGACTCAAGCAATCCTC... | CTCCCGAACAGGTGAGATTACAGGTATGTGCCACTGCACTCCAGCCTGGGAGACAGGGTCTTGCTCTGTTGCCAGGCTGAATTGCAGTGGCTCCATCACAGCTTACTGTAGCCTCAACCTCCTGGGTTCAAGCAATCCTCCCATCTCAGCCTCCCGGGCTCAAGCAATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGGTGCACCACACTGTTTTTTTTTTCTTTTCAGGCAAGGTCTCCTCCTGTCGCCCATGCTGGAATGCAGTGGCGTGATATCTGCTCAACCTCTGCCTCCTGGACTCAAGCAATCCTC... | benign | 92,185 |
Gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1) variant at chromosome 5, position 37227369—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Joubert_syndrome_1', 'Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | ATCTGCTCAACCTCTGCCTCCTGGACTCAAGCAATCCTCCCACCTCAGCCTCCTGGGTCGCTGGGATTACAGGCACATGCCAATAGGCCTGGCTAATTTTTTAGTTGCGGAGTTTCATCGTGTTGCCCAAGCTAGTCCTGGGGTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTCGATCACAGGCGTGAGCCACTGCGCCCAGCCTAATTTTTTAAAGAGGTCATTTTTTTAAGAGGTCATTTTGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGGCTGAAGCGGGCGGATCACCTGAGGT... | ATCTGCTCAACCTCTGCCTCCTGGACTCAAGCAATCCTCCCACCTCAGCCTCCTGGGTCGCTGGGATTACAGGCACATGCCAATAGGCCTGGCTAATTTTTTAGTTGCGGAGTTTCATCGTGTTGCCCAAGCTAGTCCTGGGGTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTCGATCACAGGCGTGAGCCACTGCGCCCAGCCTAATTTTTTAAAGAGGTCATTTTTTTAAGAGGTCATTTTGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGGCTGAAGCGGGCGGATCACCTGAGGT... | pathogenic | 92,188 |
For chromosome 5, position 37238834, gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CATACAATCAGCCAATAAACATATGAAAAAATGCTCAACATCACTAATCATCAGAGAAATGCAAATTAAAACCACAACGAGATAACATACCAGTCAGAATGGCTATTACTAAAAAGTCAAAAAACAACATGTTGGCAAGTATGCAGAGGAAAGGGAACATGGGAACATGTTTCTCATGGGAACGTGAGAAAAGGGAACAAACATGATTGGTGGGAACGCAAATTAGTACAATCATTATGGTATAGAGATTTCTCAAAGAACCAAAATAGGAACTACCATTCAATCTAGTAATCCCACTATTGGGTATATACCCAAAGGGA... | CATACAATCAGCCAATAAACATATGAAAAAATGCTCAACATCACTAATCATCAGAGAAATGCAAATTAAAACCACAACGAGATAACATACCAGTCAGAATGGCTATTACTAAAAAGTCAAAAAACAACATGTTGGCAAGTATGCAGAGGAAAGGGAACATGGGAACATGTTTCTCATGGGAACGTGAGAAAAGGGAACAAACATGATTGGTGGGAACGCAAATTAGTACAATCATTATGGTATAGAGATTTCTCAAAGAACCAAAATAGGAACTACCATTCAATCTAGTAATCCCACTATTGGGTATATACCCAAAGGGA... | benign | 92,200 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 37238886, gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | AGAGAAATGCAAATTAAAACCACAACGAGATAACATACCAGTCAGAATGGCTATTACTAAAAAGTCAAAAAACAACATGTTGGCAAGTATGCAGAGGAAAGGGAACATGGGAACATGTTTCTCATGGGAACGTGAGAAAAGGGAACAAACATGATTGGTGGGAACGCAAATTAGTACAATCATTATGGTATAGAGATTTCTCAAAGAACCAAAATAGGAACTACCATTCAATCTAGTAATCCCACTATTGGGTATATACCCAAAGGGAAAGAAATCATTATATCAAAAAGATACTTGCACTCACACGTTTATCACATCAC... | AGAGAAATGCAAATTAAAACCACAACGAGATAACATACCAGTCAGAATGGCTATTACTAAAAAGTCAAAAAACAACATGTTGGCAAGTATGCAGAGGAAAGGGAACATGGGAACATGTTTCTCATGGGAACGTGAGAAAAGGGAACAAACATGATTGGTGGGAACGCAAATTAGTACAATCATTATGGTATAGAGATTTCTCAAAGAACCAAAATAGGAACTACCATTCAATCTAGTAATCCCACTATTGGGTATATACCCAAAGGGAAAGAAATCATTATATCAAAAAGATACTTGCACTCACACGTTTATCACATCAC... | pathogenic | 92,202 |
Mutation found at chromosome 5 position 37244434, gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | AGGCTTTTTAGAATAAAACTATTTTTAAATAAAAGAACACTTAAGCATTTAAAAGGTACAATAGGAAATCAAAAGTTATGTCCCTTTTAAATTTCAACTGAATTCTTTTCCAGAATAGTTACTTTTATAGTCTTAGACAAGTAAAACCATAGCTTGTCTTATCTTTTACAAATTCTCACTTCAAAGAAGGGAAACAAGACAAAACAAGATAAACTTTCTGGATTAAACATTTAGAAATAAGAGGGGAAGAAATGATTTGTAAAGCCTCAGAACTTGAAACTCACAATAACATTTACAAATTTTATTACATGTATATGGAT... | AGGCTTTTTAGAATAAAACTATTTTTAAATAAAAGAACACTTAAGCATTTAAAAGGTACAATAGGAAATCAAAAGTTATGTCCCTTTTAAATTTCAACTGAATTCTTTTCCAGAATAGTTACTTTTATAGTCTTAGACAAGTAAAACCATAGCTTGTCTTATCTTTTACAAATTCTCACTTCAAAGAAGGGAAACAAGACAAAACAAGATAAACTTTCTGGATTAAACATTTAGAAATAAGAGGGGAAGAAATGATTTGTAAAGCCTCAGAACTTGAAACTCACAATAACATTTACAAATTTTATTACATGTATATGGAT... | pathogenic | 92,212 |
Regarding the variant found on chromosome 5 at position 37244451 in gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | ACTATTTTTAAATAAAAGAACACTTAAGCATTTAAAAGGTACAATAGGAAATCAAAAGTTATGTCCCTTTTAAATTTCAACTGAATTCTTTTCCAGAATAGTTACTTTTATAGTCTTAGACAAGTAAAACCATAGCTTGTCTTATCTTTTACAAATTCTCACTTCAAAGAAGGGAAACAAGACAAAACAAGATAAACTTTCTGGATTAAACATTTAGAAATAAGAGGGGAAGAAATGATTTGTAAAGCCTCAGAACTTGAAACTCACAATAACATTTACAAATTTTATTACATGTATATGGATCAAAAGATAATAATGTT... | ACTATTTTTAAATAAAAGAACACTTAAGCATTTAAAAGGTACAATAGGAAATCAAAAGTTATGTCCCTTTTAAATTTCAACTGAATTCTTTTCCAGAATAGTTACTTTTATAGTCTTAGACAAGTAAAACCATAGCTTGTCTTATCTTTTACAAATTCTCACTTCAAAGAAGGGAAACAAGACAAAACAAGATAAACTTTCTGGATTAAACATTTAGAAATAAGAGGGGAAGAAATGATTTGTAAAGCCTCAGAACTTGAAACTCACAATAACATTTACAAATTTTATTACATGTATATGGATCAAAAGATAATAATGTT... | pathogenic | 92,213 |
Clinical classification of chromosome 5, position 37244478, gene CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Joubert_syndrome_17', 'Orofaciodigital_syndrome_type_6'] | GCATTTAAAAGGTACAATAGGAAATCAAAAGTTATGTCCCTTTTAAATTTCAACTGAATTCTTTTCCAGAATAGTTACTTTTATAGTCTTAGACAAGTAAAACCATAGCTTGTCTTATCTTTTACAAATTCTCACTTCAAAGAAGGGAAACAAGACAAAACAAGATAAACTTTCTGGATTAAACATTTAGAAATAAGAGGGGAAGAAATGATTTGTAAAGCCTCAGAACTTGAAACTCACAATAACATTTACAAATTTTATTACATGTATATGGATCAAAAGATAATAATGTTTAAAAAGGGATAGAAAATATGGGGCCG... | GCATTTAAAAGGTACAATAGGAAATCAAAAGTTATGTCCCTTTTAAATTTCAACTGAATTCTTTTCCAGAATAGTTACTTTTATAGTCTTAGACAAGTAAAACCATAGCTTGTCTTATCTTTTACAAATTCTCACTTCAAAGAAGGGAAACAAGACAAAACAAGATAAACTTTCTGGATTAAACATTTAGAAATAAGAGGGGAAGAAATGATTTGTAAAGCCTCAGAACTTGAAACTCACAATAACATTTACAAATTTTATTACATGTATATGGATCAAAAGATAATAATGTTTAAAAAGGGATAGAAAATATGGGGCCG... | pathogenic | 92,214 |
Is the chromosome 5, position 37815487 variant in GDNF (glial cell derived neurotrophic factor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GTAACAAGCTGTAATACAGGGCCTAGTGTGTCATACATGTGTTGGCTGCCCGATAAATTCACAATCTAGGGCATGGAGGAGGTGGCTGTTCCCGCCCCTATGCTTCCTCCTGCTCCAACCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTACCGCACTGTCACTTAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCGACCTTCTGGACTCAAGTGATCCTCCTTCAGCCTCTTGAGTAGCTGGGACCACAGGTGTGCACCATCATGCCTGCCTAATTTTTAAAGTTTCTGTAGAGACAGGGTCT... | GTAACAAGCTGTAATACAGGGCCTAGTGTGTCATACATGTGTTGGCTGCCCGATAAATTCACAATCTAGGGCATGGAGGAGGTGGCTGTTCCCGCCCCTATGCTTCCTCCTGCTCCAACCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTACCGCACTGTCACTTAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCGACCTTCTGGACTCAAGTGATCCTCCTTCAGCCTCTTGAGTAGCTGGGACCACAGGTGTGCACCATCATGCCTGCCTAATTTTTAAAGTTTCTGTAGAGACAGGGTCT... | benign | 92,269 |
Variant on chromosome 5, at position 38499562, affecting LIFR (LIF receptor subunit alpha): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Stüve-Wiedemann_syndrome_1'] | AAACAAAACATTTTAAAAAATAGCATCATGGGTTTTTTTCTAAACATTTGTTTTCTCATTTTAAAGTATTACATGCCCACTACAGAAAATTTGGAAAATATATAGAAGTTGAAACAAGTAAAAATCTCCCATATTCCCACCTCTTAAGTATTCTTTCATTTTGATATTTCTTTCAAGTTGTTTTTCTAGGTATAGATTTTTTTACTAACATTGTTTTAATCATATTACACCATTTTACTTTTTACTTTTCCATAATATATGCTAATATACGCTTGTCCATAATACAGTTATATACATTTTCATGGTTTTATGTCTTATGT... | AAACAAAACATTTTAAAAAATAGCATCATGGGTTTTTTTCTAAACATTTGTTTTCTCATTTTAAAGTATTACATGCCCACTACAGAAAATTTGGAAAATATATAGAAGTTGAAACAAGTAAAAATCTCCCATATTCCCACCTCTTAAGTATTCTTTCATTTTGATATTTCTTTCAAGTTGTTTTTCTAGGTATAGATTTTTTTACTAACATTGTTTTAATCATATTACACCATTTTACTTTTTACTTTTCCATAATATATGCTAATATACGCTTGTCCATAATACAGTTATATACATTTTCATGGTTTTATGTCTTATGT... | pathogenic | 92,322 |
Considering the genetic mutation at chromosome 5, position 38502658, impacting LIFR (LIF receptor subunit alpha): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Stuve-Wiedemann_syndrome'] | CAGGTTTTCAGATTACGTATGTTCAATCTGTAATGCATACTCAGTAAATATTTGTTGAGTAAATTGATGCCTTCATCTTAATGAGGTGCAAATAAGATGTTTCCTCTTGGAGACAACAGCTCATTAACTGAAGGCAAAAACTACAGTGGCTAGTCTCCAAAATGACCAATAATCCCCATGTGCGTGGTGCCCTCCCACATTGCATCAGGGTTGGCCTGTGTGACCAACAGTGTGCAGTAGACATAATGGTATGTTACTTCCGATTTTAGAGCATAAAAGATACTGTTCAGTCACCGGCTCTGGGAGGAACTGGCTGCCAT... | CAGGTTTTCAGATTACGTATGTTCAATCTGTAATGCATACTCAGTAAATATTTGTTGAGTAAATTGATGCCTTCATCTTAATGAGGTGCAAATAAGATGTTTCCTCTTGGAGACAACAGCTCATTAACTGAAGGCAAAAACTACAGTGGCTAGTCTCCAAAATGACCAATAATCCCCATGTGCGTGGTGCCCTCCCACATTGCATCAGGGTTGGCCTGTGTGACCAACAGTGTGCAGTAGACATAATGGTATGTTACTTCCGATTTTAGAGCATAAAAGATACTGTTCAGTCACCGGCTCTGGGAGGAACTGGCTGCCAT... | pathogenic | 92,324 |
Variant on chromosome 5, at position 38505961, affecting LIFR (LIF receptor subunit alpha): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Stüve-Wiedemann_syndrome_1'] | AATTCTTTTTGAGAACTATTTTATCCAAAATAATCACAAAGGAAGTCTTTAAGAGAATCTTACCTGCTCTTGTACTGAATTAGATTTCTTAATTTCAATTTCACATAAAAAATTAATCTTTGCAAAGTTGCCTGGTAAATGCCAAGAAAGTTTAACAGCTGTTGAATTAATATCCTTCACTTTGAATGAAGTAGGAGTATGGGGATAAACTGCAAATATAATTTTTAAAGATTAAACACTTATTTAAAGGGAAAAACTATCTTCTAATATGACAAATGAGAAGAAAACATAAAAAACAACGAGGCATCATTAGTGCTGAC... | AATTCTTTTTGAGAACTATTTTATCCAAAATAATCACAAAGGAAGTCTTTAAGAGAATCTTACCTGCTCTTGTACTGAATTAGATTTCTTAATTTCAATTTCACATAAAAAATTAATCTTTGCAAAGTTGCCTGGTAAATGCCAAGAAAGTTTAACAGCTGTTGAATTAATATCCTTCACTTTGAATGAAGTAGGAGTATGGGGATAAACTGCAAATATAATTTTTAAAGATTAAACACTTATTTAAAGGGAAAAACTATCTTCTAATATGACAAATGAGAAGAAAACATAAAAAACAACGAGGCATCATTAGTGCTGAC... | pathogenic | 92,329 |
Regarding the variant at chromosome 5 and position 38510539, affecting gene LIFR (LIF receptor subunit alpha): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Stuve-Wiedemann_syndrome'] | AAAACGCCAGCAGGTTTTGATTGGGTAGGTGTGTGTGCACGCAGACGTGTGTGTAGGGAAAAACTAACAAGCCGATTATAAATTTCTTTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCACTCTCCTGCCTCAGCTTCCCGAGTAGCTGAGACCACAGGCGCCTGCCACCATGCCCAGCTAATTTTTTTGTATTTTCTTTTTTTAATAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT... | AAAACGCCAGCAGGTTTTGATTGGGTAGGTGTGTGTGCACGCAGACGTGTGTGTAGGGAAAAACTAACAAGCCGATTATAAATTTCTTTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCACTCTCCTGCCTCAGCTTCCCGAGTAGCTGAGACCACAGGCGCCTGCCACCATGCCCAGCTAATTTTTTTGTATTTTCTTTTTTTAATAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT... | pathogenic | 92,337 |
Determine if the mutation at chromosome 5, position 38510698 in gene LIFR (LIF receptor subunit alpha) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Stuve-Wiedemann_syndrome', 'Stüve-Wiedemann_syndrome_1'] | CACTGCAAGCTCCGCCTCCTGGGTTCATGCCACTCTCCTGCCTCAGCTTCCCGAGTAGCTGAGACCACAGGCGCCTGCCACCATGCCCAGCTAATTTTTTTGTATTTTCTTTTTTTAATAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGCGCTGGGATTACAGGCGTAAGCCACCACACCCGGCCTAAATTTCTTTTCAGTCTTTTCCGTAAATGGTGGCTTAACAGGATATCCATAAAGAAAGGAAATAAATGAATCCTGATACCTAACT... | CACTGCAAGCTCCGCCTCCTGGGTTCATGCCACTCTCCTGCCTCAGCTTCCCGAGTAGCTGAGACCACAGGCGCCTGCCACCATGCCCAGCTAATTTTTTTGTATTTTCTTTTTTTAATAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGCGCTGGGATTACAGGCGTAAGCCACCACACCCGGCCTAAATTTCTTTTCAGTCTTTTCCGTAAATGGTGGCTTAACAGGATATCCATAAAGAAAGGAAATAAATGAATCCTGATACCTAACT... | pathogenic | 92,339 |
A mutation at chromosome position 38511872 on chromosome 5 in gene LIFR (LIF receptor subunit alpha): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Stuve-Wiedemann_syndrome', 'Stüve-Wiedemann_syndrome_1'] | AAGCCACATGGGCAGGGCAGCCCACAACAAACTACTTTTGGAAATACCATGGAATTTTAGACTGTGGGGTGATCATGTTAATAGACACCTTGAATGACAGAGCATACAACATATATAGAACGCAGTGGGAGAGTATGTTTCCCCTCACCCATGTCCTCCTGCCAGCCTGTTCTCCTCAAATATAATAGTTAAAAGATGGAGAAGATATGTTATGCTACTGAAAGATTTTGTGTAAAATTGCTATAATTTCTTTAATTTAGATACTTTAAAAAAGGTATACTTTAACTGGAAAATGAATTCACATAATTTCTAAACAATGC... | AAGCCACATGGGCAGGGCAGCCCACAACAAACTACTTTTGGAAATACCATGGAATTTTAGACTGTGGGGTGATCATGTTAATAGACACCTTGAATGACAGAGCATACAACATATATAGAACGCAGTGGGAGAGTATGTTTCCCCTCACCCATGTCCTCCTGCCAGCCTGTTCTCCTCAAATATAATAGTTAAAAGATGGAGAAGATATGTTATGCTACTGAAAGATTTTGTGTAAAATTGCTATAATTTCTTTAATTTAGATACTTTAAAAAAGGTATACTTTAACTGGAAAATGAATTCACATAATTTCTAAACAATGC... | pathogenic | 92,340 |
Located at chromosome 5 position 38523500, the variant affecting gene LIFR (LIF receptor subunit alpha)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Stüve-Wiedemann_syndrome_1'] | ACTATTGTTGAATAAGAGTGGCGTAAGTGGTCCAGTCTTTGGGTCCCGGCAGTGGAAGTGGTAAGCCGAGTATGCCTGTCTTTGGACCCCAGGATGGCATTCACTGGCCCCATTGTTAGTGGGTCCAAGGGGGCCAATTCTTGAGCGTCCAGGTGGCTTGCTTGGATGCTGGTATTGAGAGTGGTGGGCTGGGTACGTTCTCAGGCCCCTGGCCAGCAGGTGTGGTGTGGGTGATGGCAGTAGCAGTGGTAGGATAACCCTCTGGGTCTTGAGCAGTGCACTCTGGTGCTGACAGTAGATACAATGTGCTGAGTGGGCCA... | ACTATTGTTGAATAAGAGTGGCGTAAGTGGTCCAGTCTTTGGGTCCCGGCAGTGGAAGTGGTAAGCCGAGTATGCCTGTCTTTGGACCCCAGGATGGCATTCACTGGCCCCATTGTTAGTGGGTCCAAGGGGGCCAATTCTTGAGCGTCCAGGTGGCTTGCTTGGATGCTGGTATTGAGAGTGGTGGGCTGGGTACGTTCTCAGGCCCCTGGCCAGCAGGTGTGGTGTGGGTGATGGCAGTAGCAGTGGTAGGATAACCCTCTGGGTCTTGAGCAGTGCACTCTGGTGCTGACAGTAGATACAATGTGCTGAGTGGGCCA... | pathogenic | 92,344 |
The chromosome 5, position 38527134 genetic variant in gene LIFR (LIF receptor subunit alpha): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GAATCCAGGACACTAAAAAAGGTAGCAGGAAGAGTAATGTATCCTTGAAAATCATTAACTCTCCCTAAGGGCGGATAAATCATGGAAAATTTTGGACCAATGGAAAACAAAGAAGGTATGAGCATGTTCCATTCTATGAAATGTAGACTTTCTGGTTTGAGAATCAGAGAGACTTGGACTTTCTTCCATGTTTCCTCCTCAAATAACAGTAAAGTAAAGGTGAGTTAGAAGAAATCCATAGACTCACCCTTTCTTGCCTCATTTCTATCCTAGAAGCTCAAGGACCAATTACATATAGTCATGGTAAGCCCAAAACTGCA... | GAATCCAGGACACTAAAAAAGGTAGCAGGAAGAGTAATGTATCCTTGAAAATCATTAACTCTCCCTAAGGGCGGATAAATCATGGAAAATTTTGGACCAATGGAAAACAAAGAAGGTATGAGCATGTTCCATTCTATGAAATGTAGACTTTCTGGTTTGAGAATCAGAGAGACTTGGACTTTCTTCCATGTTTCCTCCTCAAATAACAGTAAAGTAAAGGTGAGTTAGAAGAAATCCATAGACTCACCCTTTCTTGCCTCATTTCTATCCTAGAAGCTCAAGGACCAATTACATATAGTCATGGTAAGCCCAAAACTGCA... | benign | 92,348 |
Clinical classification of chromosome 5, position 38527152, gene LIFR (LIF receptor subunit alpha): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Stüve-Wiedemann_syndrome_1'] | AAGGTAGCAGGAAGAGTAATGTATCCTTGAAAATCATTAACTCTCCCTAAGGGCGGATAAATCATGGAAAATTTTGGACCAATGGAAAACAAAGAAGGTATGAGCATGTTCCATTCTATGAAATGTAGACTTTCTGGTTTGAGAATCAGAGAGACTTGGACTTTCTTCCATGTTTCCTCCTCAAATAACAGTAAAGTAAAGGTGAGTTAGAAGAAATCCATAGACTCACCCTTTCTTGCCTCATTTCTATCCTAGAAGCTCAAGGACCAATTACATATAGTCATGGTAAGCCCAAAACTGCAGGACAGTGCAGGGCTAGG... | AAGGTAGCAGGAAGAGTAATGTATCCTTGAAAATCATTAACTCTCCCTAAGGGCGGATAAATCATGGAAAATTTTGGACCAATGGAAAACAAAGAAGGTATGAGCATGTTCCATTCTATGAAATGTAGACTTTCTGGTTTGAGAATCAGAGAGACTTGGACTTTCTTCCATGTTTCCTCCTCAAATAACAGTAAAGTAAAGGTGAGTTAGAAGAAATCCATAGACTCACCCTTTCTTGCCTCATTTCTATCCTAGAAGCTCAAGGACCAATTACATATAGTCATGGTAAGCCCAAAACTGCAGGACAGTGCAGGGCTAGG... | pathogenic | 92,349 |
Evaluate the clinical significance of the mutation at chromosome 5, position 38528728 in gene LIFR (LIF receptor subunit alpha): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Stüve-Wiedemann_syndrome_1'] | CTTATCCCAATACTGTTATTCTAATCATGATCAGGACCATTATTATTTATAATGCTACCAATACATTACATGATATGTAAAACACAATGAACTATTAATCGACTGAGTCTCCTACAGTCTGTCTTGATTTGCCTTTCTGATTCTAATACTGTCATTTTTCAGTAGCTTCCCAGATAAGACTACACCCTAGAGCAAGGGGCATCTGAGAAATTCTGGAAGGTACGCAGGAGTCAAGGGGGCTAAAGAAAGAGTATGGAACTGAGGGAAGGAGCCTGAATTCTGGGCTATTTTGACTGGCCAGAAGAAAAGTTTGCTTCCTT... | CTTATCCCAATACTGTTATTCTAATCATGATCAGGACCATTATTATTTATAATGCTACCAATACATTACATGATATGTAAAACACAATGAACTATTAATCGACTGAGTCTCCTACAGTCTGTCTTGATTTGCCTTTCTGATTCTAATACTGTCATTTTTCAGTAGCTTCCCAGATAAGACTACACCCTAGAGCAAGGGGCATCTGAGAAATTCTGGAAGGTACGCAGGAGTCAAGGGGGCTAAAGAAAGAGTATGGAACTGAGGGAAGGAGCCTGAATTCTGGGCTATTTTGACTGGCCAGAAGAAAAGTTTGCTTCCTT... | pathogenic | 92,352 |
Regarding the variant at chromosome 5 and position 38528772, affecting gene LIFR (LIF receptor subunit alpha): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Stüve-Wiedemann_syndrome_1'] | ATTTATAATGCTACCAATACATTACATGATATGTAAAACACAATGAACTATTAATCGACTGAGTCTCCTACAGTCTGTCTTGATTTGCCTTTCTGATTCTAATACTGTCATTTTTCAGTAGCTTCCCAGATAAGACTACACCCTAGAGCAAGGGGCATCTGAGAAATTCTGGAAGGTACGCAGGAGTCAAGGGGGCTAAAGAAAGAGTATGGAACTGAGGGAAGGAGCCTGAATTCTGGGCTATTTTGACTGGCCAGAAGAAAAGTTTGCTTCCTTCTGATCTTGGCTACCATCTACAATTCATAGGGAGGTTGCTGAGT... | ATTTATAATGCTACCAATACATTACATGATATGTAAAACACAATGAACTATTAATCGACTGAGTCTCCTACAGTCTGTCTTGATTTGCCTTTCTGATTCTAATACTGTCATTTTTCAGTAGCTTCCCAGATAAGACTACACCCTAGAGCAAGGGGCATCTGAGAAATTCTGGAAGGTACGCAGGAGTCAAGGGGGCTAAAGAAAGAGTATGGAACTGAGGGAAGGAGCCTGAATTCTGGGCTATTTTGACTGGCCAGAAGAAAAGTTTGCTTCCTTCTGATCTTGGCTACCATCTACAATTCATAGGGAGGTTGCTGAGT... | pathogenic | 92,353 |
Variant in LIFR (LIF receptor subunit alpha), chromosome 5, position 38528842—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | CAGTCTGTCTTGATTTGCCTTTCTGATTCTAATACTGTCATTTTTCAGTAGCTTCCCAGATAAGACTACACCCTAGAGCAAGGGGCATCTGAGAAATTCTGGAAGGTACGCAGGAGTCAAGGGGGCTAAAGAAAGAGTATGGAACTGAGGGAAGGAGCCTGAATTCTGGGCTATTTTGACTGGCCAGAAGAAAAGTTTGCTTCCTTCTGATCTTGGCTACCATCTACAATTCATAGGGAGGTTGCTGAGTGAATTAAAAGTAATAGCATAACACATGAAATTCAAAAAACTAGAAAGCACCACAATACTAACAAGTGACA... | CAGTCTGTCTTGATTTGCCTTTCTGATTCTAATACTGTCATTTTTCAGTAGCTTCCCAGATAAGACTACACCCTAGAGCAAGGGGCATCTGAGAAATTCTGGAAGGTACGCAGGAGTCAAGGGGGCTAAAGAAAGAGTATGGAACTGAGGGAAGGAGCCTGAATTCTGGGCTATTTTGACTGGCCAGAAGAAAAGTTTGCTTCCTTCTGATCTTGGCTACCATCTACAATTCATAGGGAGGTTGCTGAGTGAATTAAAAGTAATAGCATAACACATGAAATTCAAAAAACTAGAAAGCACCACAATACTAACAAGTGACA... | benign | 92,355 |
Variant at chromosome 5, position 38528849, gene LIFR (LIF receptor subunit alpha): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TCTTGATTTGCCTTTCTGATTCTAATACTGTCATTTTTCAGTAGCTTCCCAGATAAGACTACACCCTAGAGCAAGGGGCATCTGAGAAATTCTGGAAGGTACGCAGGAGTCAAGGGGGCTAAAGAAAGAGTATGGAACTGAGGGAAGGAGCCTGAATTCTGGGCTATTTTGACTGGCCAGAAGAAAAGTTTGCTTCCTTCTGATCTTGGCTACCATCTACAATTCATAGGGAGGTTGCTGAGTGAATTAAAAGTAATAGCATAACACATGAAATTCAAAAAACTAGAAAGCACCACAATACTAACAAGTGACACTTGACT... | TCTTGATTTGCCTTTCTGATTCTAATACTGTCATTTTTCAGTAGCTTCCCAGATAAGACTACACCCTAGAGCAAGGGGCATCTGAGAAATTCTGGAAGGTACGCAGGAGTCAAGGGGGCTAAAGAAAGAGTATGGAACTGAGGGAAGGAGCCTGAATTCTGGGCTATTTTGACTGGCCAGAAGAAAAGTTTGCTTCCTTCTGATCTTGGCTACCATCTACAATTCATAGGGAGGTTGCTGAGTGAATTAAAAGTAATAGCATAACACATGAAATTCAAAAAACTAGAAAGCACCACAATACTAACAAGTGACACTTGACT... | benign | 92,356 |
Variant at chromosome position 38528849, chromosome 5, gene LIFR (LIF receptor subunit alpha): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TCTTGATTTGCCTTTCTGATTCTAATACTGTCATTTTTCAGTAGCTTCCCAGATAAGACTACACCCTAGAGCAAGGGGCATCTGAGAAATTCTGGAAGGTACGCAGGAGTCAAGGGGGCTAAAGAAAGAGTATGGAACTGAGGGAAGGAGCCTGAATTCTGGGCTATTTTGACTGGCCAGAAGAAAAGTTTGCTTCCTTCTGATCTTGGCTACCATCTACAATTCATAGGGAGGTTGCTGAGTGAATTAAAAGTAATAGCATAACACATGAAATTCAAAAAACTAGAAAGCACCACAATACTAACAAGTGACACTTGACT... | TCTTGATTTGCCTTTCTGATTCTAATACTGTCATTTTTCAGTAGCTTCCCAGATAAGACTACACCCTAGAGCAAGGGGCATCTGAGAAATTCTGGAAGGTACGCAGGAGTCAAGGGGGCTAAAGAAAGAGTATGGAACTGAGGGAAGGAGCCTGAATTCTGGGCTATTTTGACTGGCCAGAAGAAAAGTTTGCTTCCTTCTGATCTTGGCTACCATCTACAATTCATAGGGAGGTTGCTGAGTGAATTAAAAGTAATAGCATAACACATGAAATTCAAAAAACTAGAAAGCACCACAATACTAACAAGTGACACTTGACT... | benign | 92,357 |
Classify the chromosome 5 variant at position 38530624 affecting gene LIFR (LIF receptor subunit alpha) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Stüve-Wiedemann_syndrome_1'] | AAAAATGAGGCAGAGGTCACGGCAGACTCTGCTGGACACAGAACACAAGCAGGAAATAACCCTTTAGTTTCACAAGCAATAAGGTAAGAACTGAGGGTCGTTTCTGCAATTCAACCTAGCTCATTGTGAATTAAAGTAAATTAAAATTACCTGTTTTCAATGCAAACTTCATAATCAGTACCACGGCCTGTTCCAGAGGGTGCTTTCCAAGAACAGTTCCACACTTGCAAATTGTTAGTTACACACTTCAAATCATGAGGAGCCCCTGGAGGAGACACACACACACACACACACACACACACAGACACACATAAACACAG... | AAAAATGAGGCAGAGGTCACGGCAGACTCTGCTGGACACAGAACACAAGCAGGAAATAACCCTTTAGTTTCACAAGCAATAAGGTAAGAACTGAGGGTCGTTTCTGCAATTCAACCTAGCTCATTGTGAATTAAAGTAAATTAAAATTACCTGTTTTCAATGCAAACTTCATAATCAGTACCACGGCCTGTTCCAGAGGGTGCTTTCCAAGAACAGTTCCACACTTGCAAATTGTTAGTTACACACTTCAAATCATGAGGAGCCCCTGGAGGAGACACACACACACACACACACACACACACAGACACACATAAACACAG... | pathogenic | 92,361 |
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