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 |
|---|---|---|---|---|---|
Is the variant located on chromosome 4 at position 52038226, gene SGCB, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | TTCTAAGAAAAGCTGAAGGTTGAGTTAACTCTTGAAGGATGGACAGGAGTTAACCAGGCAAAAGAGCTAAGAAGGTCACTCTAGGCAGAGGAAGAAGCATGGAGACTTTGAGAGGCAACCATCTCTGGGAGAACTAATTTTGGTCACTTTATGTGGATGGTGAGAAGGATAGGTGTAGGGATGAAGCAAGAAATACAATGAGAGATGTGCTTAGGGGCCAGTAAGCAACATAAATACCATGACAAGAACAATGGACTTTATCCTGAAGGCAAAGGGGAACTACTGAAGAGTTAAAATAGGTTTCCTATACAATCAGATTT... | TTCTAAGAAAAGCTGAAGGTTGAGTTAACTCTTGAAGGATGGACAGGAGTTAACCAGGCAAAAGAGCTAAGAAGGTCACTCTAGGCAGAGGAAGAAGCATGGAGACTTTGAGAGGCAACCATCTCTGGGAGAACTAATTTTGGTCACTTTATGTGGATGGTGAGAAGGATAGGTGTAGGGATGAAGCAAGAAATACAATGAGAGATGTGCTTAGGGGCCAGTAAGCAACATAAATACCATGACAAGAACAATGGACTTTATCCTGAAGGCAAAGGGGAACTACTGAAGAGTTAAAATAGGTTTCCTATACAATCAGATTT... | pathogenic | 81,648 |
Located at chromosome 4 position 52038227, the variant affecting gene SGCB—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | TCTAAGAAAAGCTGAAGGTTGAGTTAACTCTTGAAGGATGGACAGGAGTTAACCAGGCAAAAGAGCTAAGAAGGTCACTCTAGGCAGAGGAAGAAGCATGGAGACTTTGAGAGGCAACCATCTCTGGGAGAACTAATTTTGGTCACTTTATGTGGATGGTGAGAAGGATAGGTGTAGGGATGAAGCAAGAAATACAATGAGAGATGTGCTTAGGGGCCAGTAAGCAACATAAATACCATGACAAGAACAATGGACTTTATCCTGAAGGCAAAGGGGAACTACTGAAGAGTTAAAATAGGTTTCCTATACAATCAGATTTG... | TCTAAGAAAAGCTGAAGGTTGAGTTAACTCTTGAAGGATGGACAGGAGTTAACCAGGCAAAAGAGCTAAGAAGGTCACTCTAGGCAGAGGAAGAAGCATGGAGACTTTGAGAGGCAACCATCTCTGGGAGAACTAATTTTGGTCACTTTATGTGGATGGTGAGAAGGATAGGTGTAGGGATGAAGCAAGAAATACAATGAGAGATGTGCTTAGGGGCCAGTAAGCAACATAAATACCATGACAAGAACAATGGACTTTATCCTGAAGGCAAAGGGGAACTACTGAAGAGTTAAAATAGGTTTCCTATACAATCAGATTTG... | pathogenic | 81,649 |
Determine if the mutation at chromosome 4, position 52038229 in gene SGCB is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | TAAGAAAAGCTGAAGGTTGAGTTAACTCTTGAAGGATGGACAGGAGTTAACCAGGCAAAAGAGCTAAGAAGGTCACTCTAGGCAGAGGAAGAAGCATGGAGACTTTGAGAGGCAACCATCTCTGGGAGAACTAATTTTGGTCACTTTATGTGGATGGTGAGAAGGATAGGTGTAGGGATGAAGCAAGAAATACAATGAGAGATGTGCTTAGGGGCCAGTAAGCAACATAAATACCATGACAAGAACAATGGACTTTATCCTGAAGGCAAAGGGGAACTACTGAAGAGTTAAAATAGGTTTCCTATACAATCAGATTTGCA... | TAAGAAAAGCTGAAGGTTGAGTTAACTCTTGAAGGATGGACAGGAGTTAACCAGGCAAAAGAGCTAAGAAGGTCACTCTAGGCAGAGGAAGAAGCATGGAGACTTTGAGAGGCAACCATCTCTGGGAGAACTAATTTTGGTCACTTTATGTGGATGGTGAGAAGGATAGGTGTAGGGATGAAGCAAGAAATACAATGAGAGATGTGCTTAGGGGCCAGTAAGCAACATAAATACCATGACAAGAACAATGGACTTTATCCTGAAGGCAAAGGGGAACTACTGAAGAGTTAAAATAGGTTTCCTATACAATCAGATTTGCA... | pathogenic | 81,651 |
Clinical significance of chromosome 4, position 52038243, gene SGCB: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | GGTTGAGTTAACTCTTGAAGGATGGACAGGAGTTAACCAGGCAAAAGAGCTAAGAAGGTCACTCTAGGCAGAGGAAGAAGCATGGAGACTTTGAGAGGCAACCATCTCTGGGAGAACTAATTTTGGTCACTTTATGTGGATGGTGAGAAGGATAGGTGTAGGGATGAAGCAAGAAATACAATGAGAGATGTGCTTAGGGGCCAGTAAGCAACATAAATACCATGACAAGAACAATGGACTTTATCCTGAAGGCAAAGGGGAACTACTGAAGAGTTAAAATAGGTTTCCTATACAATCAGATTTGCATTGTAGTAAAATCA... | GGTTGAGTTAACTCTTGAAGGATGGACAGGAGTTAACCAGGCAAAAGAGCTAAGAAGGTCACTCTAGGCAGAGGAAGAAGCATGGAGACTTTGAGAGGCAACCATCTCTGGGAGAACTAATTTTGGTCACTTTATGTGGATGGTGAGAAGGATAGGTGTAGGGATGAAGCAAGAAATACAATGAGAGATGTGCTTAGGGGCCAGTAAGCAACATAAATACCATGACAAGAACAATGGACTTTATCCTGAAGGCAAAGGGGAACTACTGAAGAGTTAAAATAGGTTTCCTATACAATCAGATTTGCATTGTAGTAAAATCA... | pathogenic | 81,653 |
Variant in gene SGCB, located at chromosome 4 position 52038251: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | TAACTCTTGAAGGATGGACAGGAGTTAACCAGGCAAAAGAGCTAAGAAGGTCACTCTAGGCAGAGGAAGAAGCATGGAGACTTTGAGAGGCAACCATCTCTGGGAGAACTAATTTTGGTCACTTTATGTGGATGGTGAGAAGGATAGGTGTAGGGATGAAGCAAGAAATACAATGAGAGATGTGCTTAGGGGCCAGTAAGCAACATAAATACCATGACAAGAACAATGGACTTTATCCTGAAGGCAAAGGGGAACTACTGAAGAGTTAAAATAGGTTTCCTATACAATCAGATTTGCATTGTAGTAAAATCACTCCAAAA... | TAACTCTTGAAGGATGGACAGGAGTTAACCAGGCAAAAGAGCTAAGAAGGTCACTCTAGGCAGAGGAAGAAGCATGGAGACTTTGAGAGGCAACCATCTCTGGGAGAACTAATTTTGGTCACTTTATGTGGATGGTGAGAAGGATAGGTGTAGGGATGAAGCAAGAAATACAATGAGAGATGTGCTTAGGGGCCAGTAAGCAACATAAATACCATGACAAGAACAATGGACTTTATCCTGAAGGCAAAGGGGAACTACTGAAGAGTTAAAATAGGTTTCCTATACAATCAGATTTGCATTGTAGTAAAATCACTCCAAAA... | pathogenic | 81,655 |
Gene SGCB variant at chromosome 4, position 52038251—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E'] | TAACTCTTGAAGGATGGACAGGAGTTAACCAGGCAAAAGAGCTAAGAAGGTCACTCTAGGCAGAGGAAGAAGCATGGAGACTTTGAGAGGCAACCATCTCTGGGAGAACTAATTTTGGTCACTTTATGTGGATGGTGAGAAGGATAGGTGTAGGGATGAAGCAAGAAATACAATGAGAGATGTGCTTAGGGGCCAGTAAGCAACATAAATACCATGACAAGAACAATGGACTTTATCCTGAAGGCAAAGGGGAACTACTGAAGAGTTAAAATAGGTTTCCTATACAATCAGATTTGCATTGTAGTAAAATCACTCCAAAA... | TAACTCTTGAAGGATGGACAGGAGTTAACCAGGCAAAAGAGCTAAGAAGGTCACTCTAGGCAGAGGAAGAAGCATGGAGACTTTGAGAGGCAACCATCTCTGGGAGAACTAATTTTGGTCACTTTATGTGGATGGTGAGAAGGATAGGTGTAGGGATGAAGCAAGAAATACAATGAGAGATGTGCTTAGGGGCCAGTAAGCAACATAAATACCATGACAAGAACAATGGACTTTATCCTGAAGGCAAAGGGGAACTACTGAAGAGTTAAAATAGGTTTCCTATACAATCAGATTTGCATTGTAGTAAAATCACTCCAAAA... | pathogenic | 81,656 |
For chromosome 4, position 52038257, gene SGCB: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E', 'Qualitative_or_quantitative_defects_of_beta-sarcoglycan'] | TTGAAGGATGGACAGGAGTTAACCAGGCAAAAGAGCTAAGAAGGTCACTCTAGGCAGAGGAAGAAGCATGGAGACTTTGAGAGGCAACCATCTCTGGGAGAACTAATTTTGGTCACTTTATGTGGATGGTGAGAAGGATAGGTGTAGGGATGAAGCAAGAAATACAATGAGAGATGTGCTTAGGGGCCAGTAAGCAACATAAATACCATGACAAGAACAATGGACTTTATCCTGAAGGCAAAGGGGAACTACTGAAGAGTTAAAATAGGTTTCCTATACAATCAGATTTGCATTGTAGTAAAATCACTCCAAAAAGAGAT... | TTGAAGGATGGACAGGAGTTAACCAGGCAAAAGAGCTAAGAAGGTCACTCTAGGCAGAGGAAGAAGCATGGAGACTTTGAGAGGCAACCATCTCTGGGAGAACTAATTTTGGTCACTTTATGTGGATGGTGAGAAGGATAGGTGTAGGGATGAAGCAAGAAATACAATGAGAGATGTGCTTAGGGGCCAGTAAGCAACATAAATACCATGACAAGAACAATGGACTTTATCCTGAAGGCAAAGGGGAACTACTGAAGAGTTAAAATAGGTTTCCTATACAATCAGATTTGCATTGTAGTAAAATCACTCCAAAAAGAGAT... | pathogenic | 81,657 |
Chromosome 4, position 54229321, gene PDGFRA (platelet derived growth factor receptor alpha): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GCAAATGTTTGTTAATGATCATAACAAAGGCATCATTCAAATTAGGCAGGTAATTACTACCAGAAGGACAACTGGGTGCTCGCTTGCTCATCCATTGCTTTCTGCTTTAAACTCCCGAGGAGTCGCTGCCTGGAGACACTCCCGCCCGGACTGCTTCTCGGGCCCCATTAAACGGCTCTGAAATGAACTGTGAAGTTACCATTTGTGGGCGGAGAGCGCTGGGGCCCTGCGGACGGAAGACCCTGGCTTGACCGGACTAACAGTGTCGCCGAAGCAAAGCAGCCCCTCTGGGTAGGCTGTCTGTCTCGCCTCCTACCCTC... | GCAAATGTTTGTTAATGATCATAACAAAGGCATCATTCAAATTAGGCAGGTAATTACTACCAGAAGGACAACTGGGTGCTCGCTTGCTCATCCATTGCTTTCTGCTTTAAACTCCCGAGGAGTCGCTGCCTGGAGACACTCCCGCCCGGACTGCTTCTCGGGCCCCATTAAACGGCTCTGAAATGAACTGTGAAGTTACCATTTGTGGGCGGAGAGCGCTGGGGCCCTGCGGACGGAAGACCCTGGCTTGACCGGACTAACAGTGTCGCCGAAGCAAAGCAGCCCCTCTGGGTAGGCTGTCTGTCTCGCCTCCTACCCTC... | benign | 81,675 |
Gene mutation in PDGFRA (platelet derived growth factor receptor alpha) at chromosome 4, position 54264908—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TGTAAGATTGTCCAAAAATTCTTCTTGTTCCAGCACAGATGCCATCCAAGTAGCCCCTGCATCGCTGTCTGACTGAGATCTTTTTATTCGCAATCATGCAGACGTAGGGGCCCTTTCTGCAGCTGATGTTTGAGACTGTTAGAACTTCTTACCACCGTAGCTTAAGTAGCTGTTTTTCTTTTGGAAAGGAAATTCTCAGGCTCCTTCTCCTTCTTTAAATTTTATGTATTTCTCAAAGGATTACTTTTTAATAAACAGATTTCTATGCTATTTTTGAATCATACTGACTATAGGTGGTAAGAGTTTTTAAAAGCATTTCA... | TGTAAGATTGTCCAAAAATTCTTCTTGTTCCAGCACAGATGCCATCCAAGTAGCCCCTGCATCGCTGTCTGACTGAGATCTTTTTATTCGCAATCATGCAGACGTAGGGGCCCTTTCTGCAGCTGATGTTTGAGACTGTTAGAACTTCTTACCACCGTAGCTTAAGTAGCTGTTTTTCTTTTGGAAAGGAAATTCTCAGGCTCCTTCTCCTTCTTTAAATTTTATGTATTTCTCAAAGGATTACTTTTTAATAAACAGATTTCTATGCTATTTTTGAATCATACTGACTATAGGTGGTAAGAGTTTTTAAAAGCATTTCA... | benign | 81,780 |
Chromosome 4, position 54695552, gene KIT (KIT proto-oncogene, receptor tyrosine kinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Gastrointestinal_stromal_tumor'] | CCATCATCTGAATTCCAGGTCATAAGCAACCCACTGCTGAGAAGTCCCATTACTGGCCAGGTTGTACCTGTGAGCAAATTACACCTCTCACGTCCCCTCCCCTCAGAATATGCCCCCATCCCCTATCCTCACCCATCCTGAACTTGTGTGGCTCACTCAGATCAGTCCTCATCTGCAACCTTGCATATGGTGGCAGGGGACATAAATCTGATGTGCATGAACCATTCCCTTCACCATTCTGCAAGAGGTGACTGGGGGCCCCAGGGAATCTTGTTATCACACTGCCCCAGCCCACCTCACCTGGGGACCTTGCCTTCTGC... | CCATCATCTGAATTCCAGGTCATAAGCAACCCACTGCTGAGAAGTCCCATTACTGGCCAGGTTGTACCTGTGAGCAAATTACACCTCTCACGTCCCCTCCCCTCAGAATATGCCCCCATCCCCTATCCTCACCCATCCTGAACTTGTGTGGCTCACTCAGATCAGTCCTCATCTGCAACCTTGCATATGGTGGCAGGGGACATAAATCTGATGTGCATGAACCATTCCCTTCACCATTCTGCAAGAGGTGACTGGGGGCCCCAGGGAATCTTGTTATCACACTGCCCCAGCCCACCTCACCTGGGGACCTTGCCTTCTGC... | pathogenic | 82,191 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 54699759, gene KIT (KIT proto-oncogene, receptor tyrosine kinase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Gastrointestinal_stromal_tumor'] | TACTGGGTGGCCTGGTGAGAGTTTTCTGGATTCTCTTTAGAAGCCGAAAGACTCTGGACCCTGGAAAGGGTCCTGCACCAAGTGGTTAGAAGGAGGAAGCCTTTCCTGCTCTCACTAGGAATCATCACACTGGCTTATTGGCAGATGATCCCTGGAGTTGTAATAAAGTTTTCCCAAAGTTTTAAGAGCTCAAATATTGCTCTCTGTTGGACTTGGGTTTGAGTTCCAATCAGCCATTTCCAGGTCATGTCACTTTAGGAGGGTTGCTTTTATGACACCGCAGTTTCATCTATGAAATGGCAATAATAATAGTACTGATC... | TACTGGGTGGCCTGGTGAGAGTTTTCTGGATTCTCTTTAGAAGCCGAAAGACTCTGGACCCTGGAAAGGGTCCTGCACCAAGTGGTTAGAAGGAGGAAGCCTTTCCTGCTCTCACTAGGAATCATCACACTGGCTTATTGGCAGATGATCCCTGGAGTTGTAATAAAGTTTTCCCAAAGTTTTAAGAGCTCAAATATTGCTCTCTGTTGGACTTGGGTTTGAGTTCCAATCAGCCATTTCCAGGTCATGTCACTTTAGGAGGGTTGCTTTTATGACACCGCAGTTTCATCTATGAAATGGCAATAATAATAGTACTGATC... | pathogenic | 82,295 |
Located at chromosome 4 position 54727500, the variant affecting gene KIT (KIT proto-oncogene, receptor tyrosine kinase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome'] | CCATTCGTGTACCCTTTTGAAGCTTGTTTATTTTAGGGATCTACTGTGTACCAGCATATATGCCTGCCATTTTATTGAATTCCTTTCCAATCCTTTCAGTAACCCTCTGCAATGGGTATTACTATCCCTGTTTTACAGTCGTAGAAACTCAGTGTTGGTGGGGGTTAAAAACTCATCAGGATTCAAACCCGCATCTGACTCCGAAGCCTCCTCTGCCTTCTCTTCCCCAGTGCTTTTTTCACTCACTAGGTCACCAAAGTGCTTATTCTTAGACACTTGTAAAAGGACATTTTCTGTTGATTATGAACCTCTAACTTTGT... | CCATTCGTGTACCCTTTTGAAGCTTGTTTATTTTAGGGATCTACTGTGTACCAGCATATATGCCTGCCATTTTATTGAATTCCTTTCCAATCCTTTCAGTAACCCTCTGCAATGGGTATTACTATCCCTGTTTTACAGTCGTAGAAACTCAGTGTTGGTGGGGGTTAAAAACTCATCAGGATTCAAACCCGCATCTGACTCCGAAGCCTCCTCTGCCTTCTCTTCCCCAGTGCTTTTTTCACTCACTAGGTCACCAAAGTGCTTATTCTTAGACACTTGTAAAAGGACATTTTCTGTTGATTATGAACCTCTAACTTTGT... | pathogenic | 82,429 |
Does the chromosome 4 mutation at position 54733161 within gene KIT (KIT proto-oncogene, receptor tyrosine kinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Gastrointestinal_stromal_tumor', 'KIT-related_disorder'] | ACCTAGTTTCTGGGCATGGACCCCAATATCGATTATTAAAAACTCATTTCTTACAGAACAGGATTTTCAAACTCTTTATTCAAACTTTACATGACTTTCCTCAAATTGGTCCAGTCTATTATGTAGCAAAGGGGATGAGGAGGTAGAGCATGACCCATGAGTGCCCTTCTACATGTCCCACTTGATTCAGTCATGACTTGTTTCATCTCTCCCAGCAGCGATAGTACTAATGAGTACATGGACATGAAACCTGGAGTTTCTTATGTTGTCCCAACCAAGGCCGACAAAAGGAGATCTGTGAGAATAGGTGAGTACCTACC... | ACCTAGTTTCTGGGCATGGACCCCAATATCGATTATTAAAAACTCATTTCTTACAGAACAGGATTTTCAAACTCTTTATTCAAACTTTACATGACTTTCCTCAAATTGGTCCAGTCTATTATGTAGCAAAGGGGATGAGGAGGTAGAGCATGACCCATGAGTGCCCTTCTACATGTCCCACTTGATTCAGTCATGACTTGTTTCATCTCTCCCAGCAGCGATAGTACTAATGAGTACATGGACATGAAACCTGGAGTTTCTTATGTTGTCCCAACCAAGGCCGACAAAAGGAGATCTGTGAGAATAGGTGAGTACCTACC... | pathogenic | 82,526 |
Is the genetic mutation found on chromosome 4 at position 55367668, within the gene SRD5A3, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Abnormal_optic_nerve_morphology'] | GAGTTTCCTCTACTGGCTGCGTCTCAACTTCTGCCTTCCCTCCTGCGTAGATAGTCAAGGAAGAGGAGCCCACAAAAATAGCTTTCTAAGCACTCCTTTCTGAAGCTGTTTTCTGTTTCACCTCCTTGTCCTTCAAGGGTCATCTGGGATCATTTAGGACAATATGGGGAAAGTTGGTTTCAGTAATTCATTGAGAGAAAACACATTGGGGCATTTGCCAACCAAAGGGCGTGATAGAAATAACATGGGCTCCAGAGTCTTGATGGGCCTGCATCTGGCTCATTGAGCTTCTCTGAGCCTCACAGCCTTCATTAGTAATT... | GAGTTTCCTCTACTGGCTGCGTCTCAACTTCTGCCTTCCCTCCTGCGTAGATAGTCAAGGAAGAGGAGCCCACAAAAATAGCTTTCTAAGCACTCCTTTCTGAAGCTGTTTTCTGTTTCACCTCCTTGTCCTTCAAGGGTCATCTGGGATCATTTAGGACAATATGGGGAAAGTTGGTTTCAGTAATTCATTGAGAGAAAACACATTGGGGCATTTGCCAACCAAAGGGCGTGATAGAAATAACATGGGCTCCAGAGTCTTGATGGGCCTGCATCTGGCTCATTGAGCTTCTCTGAGCCTCACAGCCTTCATTAGTAATT... | pathogenic | 82,617 |
Considering the genetic mutation at chromosome 4, position 55370400, impacting SRD5A3: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTGGGTGACAGAGCTAGACTGTCTCAAAAAAAAAAATTGAATAGTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAATTTTTGAGATGGAGTCTTGCTCTGTTACCCAAGCTGTAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGTGATTCTCCCGCCTCAGCCTCTCAAGTAGCTGGGACTACAGGTGCGCACCACTATGCCCAGCTAATTTTTGTATTTTTTAGTACAGACAAGGTTTTGCCATGTTAGCCAGGGTGGTCTCGAAATCCTGACCTCAGGTGATCCACC... | TTGGGTGACAGAGCTAGACTGTCTCAAAAAAAAAAATTGAATAGTTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAATTTTTGAGATGGAGTCTTGCTCTGTTACCCAAGCTGTAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGTGATTCTCCCGCCTCAGCCTCTCAAGTAGCTGGGACTACAGGTGCGCACCACTATGCCCAGCTAATTTTTGTATTTTTTAGTACAGACAAGGTTTTGCCATGTTAGCCAGGGTGGTCTCGAAATCCTGACCTCAGGTGATCCACC... | benign | 82,624 |
A genetic variant on chromosome 4, position 55425361, affects the gene TMEM165 (transmembrane protein 165). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CCTACAGTCATCTGCCCCGATCTGGGGCAACGCAGTTTCTTCCCAGGGCTGTTGCCATAGCATCGCAGTGGATCACCCTTCCTTCAGTCTTGTTCCCCTCTGGTTCTTTCTCTCCACTAGACTTTAAAAAATTTTTGAGATAGGGTCTTGCTCTGTTGCCCAGGATGGAGAACAATCATAGCTCACTGCAGCCACGACCTCCTGGGCTCAAATGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACCACTTGTGCTTGCTAGGATGCCTGGCTAATTTTTAATTTTTTTGTAGAGACAAGGTCTCACTGTGTTGCCTA... | CCTACAGTCATCTGCCCCGATCTGGGGCAACGCAGTTTCTTCCCAGGGCTGTTGCCATAGCATCGCAGTGGATCACCCTTCCTTCAGTCTTGTTCCCCTCTGGTTCTTTCTCTCCACTAGACTTTAAAAAATTTTTGAGATAGGGTCTTGCTCTGTTGCCCAGGATGGAGAACAATCATAGCTCACTGCAGCCACGACCTCCTGGGCTCAAATGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACCACTTGTGCTTGCTAGGATGCCTGGCTAATTTTTAATTTTTTTGTAGAGACAAGGTCTCACTGTGTTGCCTA... | benign | 82,650 |
The mutation impacting TMEM165 (transmembrane protein 165) on chromosome 4 at position 55425453: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTCCCCTCTGGTTCTTTCTCTCCACTAGACTTTAAAAAATTTTTGAGATAGGGTCTTGCTCTGTTGCCCAGGATGGAGAACAATCATAGCTCACTGCAGCCACGACCTCCTGGGCTCAAATGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACCACTTGTGCTTGCTAGGATGCCTGGCTAATTTTTAATTTTTTTGTAGAGACAAGGTCTCACTGTGTTGCCTAGGCTAGTCTCAAACTGCCAGGCTCAAGCAATCCTCTTGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGCACCTGGCCTA... | TTCCCCTCTGGTTCTTTCTCTCCACTAGACTTTAAAAAATTTTTGAGATAGGGTCTTGCTCTGTTGCCCAGGATGGAGAACAATCATAGCTCACTGCAGCCACGACCTCCTGGGCTCAAATGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACCACTTGTGCTTGCTAGGATGCCTGGCTAATTTTTAATTTTTTTGTAGAGACAAGGTCTCACTGTGTTGCCTAGGCTAGTCTCAAACTGCCAGGCTCAAGCAATCCTCTTGCTTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGCACCTGGCCTA... | benign | 82,652 |
Determine whether the variant at chromosome 4, position 56019482, in gene CEP135 (centrosomal protein 135) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['CEP135-related_disorder'] | CTCAGTTACCATGATTAATAATTATACACAATTCATTTTGTTAAGCATTAAATAGGTCATCTTTAAATAGTAGGCAGCTTCCTGAGAGTATTTTAAAATAAGCAAAAATTGGCTGTCATATTTTTCTAAAGTGAGATTGTTGGCTGTACAAATTCAAGTTCTTAAAATTATTGGGTTATTTTAACTTTTTACTTGTTTCTTTTTCTTTTTTCAGCACATAAATGCCCATCATGCTTATGAATCTCAGATCTCATCAATGGCAAAAGCCATGTCTCGATTAGAAGAAGAGCTGAGACATCAAGAAGATGAGAAAGCAACAG... | CTCAGTTACCATGATTAATAATTATACACAATTCATTTTGTTAAGCATTAAATAGGTCATCTTTAAATAGTAGGCAGCTTCCTGAGAGTATTTTAAAATAAGCAAAAATTGGCTGTCATATTTTTCTAAAGTGAGATTGTTGGCTGTACAAATTCAAGTTCTTAAAATTATTGGGTTATTTTAACTTTTTACTTGTTTCTTTTTCTTTTTTCAGCACATAAATGCCCATCATGCTTATGAATCTCAGATCTCATCAATGGCAAAAGCCATGTCTCGATTAGAAGAAGAGCTGAGACATCAAGAAGATGAGAAAGCAACAG... | pathogenic | 82,701 |
A genetic variant at chromosome 4, position 56931051, affecting gene REST (RE1 silencing transcription factor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GTCCTCCCGCCTTTGCCTCCCGAGTAGCTAGGACTACAGGTGCACTCCACTATGCCTGGCTAATTTTTTTTTTTTTTTTTTCTTTGAGACACAGTCTCGCTGTCACCTAGGCTGGAGTGAAGTAGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTAAAGCAATTCTCGTGTCTCAGCCTCCTGAATAGGTGGGATTACTGGTGTGCAACACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTTTCAAACTCCTGGCCTCAAGGTATCCGCCCACCTT... | GTCCTCCCGCCTTTGCCTCCCGAGTAGCTAGGACTACAGGTGCACTCCACTATGCCTGGCTAATTTTTTTTTTTTTTTTTTCTTTGAGACACAGTCTCGCTGTCACCTAGGCTGGAGTGAAGTAGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTAAAGCAATTCTCGTGTCTCAGCCTCCTGAATAGGTGGGATTACTGGTGTGCAACACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTTTCAAACTCCTGGCCTCAAGGTATCCGCCCACCTT... | benign | 82,817 |
Benign or pathogenic: chromosome 4, position 64309935, gene TECRL (trans-2,3-enoyl-CoA reductase like) variant? Disease(s) if pathogenic? | benign | AGCAGTACCGTTGAATGACCTAAATAGGCTTCTAATGATAATATGGGAAGATGGAGGAGAAAACACTTTCAAATGTGCATACTGGAGGACTTACGAAGTACTAGAATTAGGACCACATGAGAATCCCTCTGCCTTTCTGGAACAACACCCTCTCACAGCCTGAAAAAGCCAGAGCAGTTATCTCCCCGTTCCACCTAATGGCAGTTAGGGTTAACACTCCAGAGTGGGGAATGAGAGAGGAGGTAGGTAGGGGCTGATTAGGCAGATAGAGATAGAAGGTCTTGCAAGAGGGACAATGCCTACAAGAACACACCTGAACC... | AGCAGTACCGTTGAATGACCTAAATAGGCTTCTAATGATAATATGGGAAGATGGAGGAGAAAACACTTTCAAATGTGCATACTGGAGGACTTACGAAGTACTAGAATTAGGACCACATGAGAATCCCTCTGCCTTTCTGGAACAACACCCTCTCACAGCCTGAAAAAGCCAGAGCAGTTATCTCCCCGTTCCACCTAATGGCAGTTAGGGTTAACACTCCAGAGTGGGGAATGAGAGAGGAGGTAGGTAGGGGCTGATTAGGCAGATAGAGATAGAAGGTCTTGCAAGAGGGACAATGCCTACAAGAACACACCTGAACC... | benign | 82,859 |
Chromosome 4, position 67753983, gene GNRHR (gonadotropin releasing hormone receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Isolated_congenital_hypogonadotropic_hypogonadism'] | CCCCTTCCCACCGGATCATTTCAATGGTTTTACTATTTTAATTCCTAGGCTAAAAAAATTGGAACTTTATTTCCCCCTGCTCTATTATTAACTCTCTCAATCCAATTTGTTGTCAGGTTTTGTATTTTATTTGAAATGTCTCTTTTACTATCTATTCTCTTTGATACCACCCTAGCCCCCTGATCACCTCATTGCCAGATGATTTTTAAAAAAGTCTTTGTTTTATTCCACTCCATTTGGGCCATTTGGGCCTACATAAATTTTCCCAAAGCCTTTTTTTTTTCTTTTTTGAGACAGGTTCTCATTCTGTCACCGAGATT... | CCCCTTCCCACCGGATCATTTCAATGGTTTTACTATTTTAATTCCTAGGCTAAAAAAATTGGAACTTTATTTCCCCCTGCTCTATTATTAACTCTCTCAATCCAATTTGTTGTCAGGTTTTGTATTTTATTTGAAATGTCTCTTTTACTATCTATTCTCTTTGATACCACCCTAGCCCCCTGATCACCTCATTGCCAGATGATTTTTAAAAAAGTCTTTGTTTTATTCCACTCCATTTGGGCCATTTGGGCCTACATAAATTTTCCCAAAGCCTTTTTTTTTTCTTTTTTGAGACAGGTTCTCATTCTGTCACCGAGATT... | pathogenic | 82,904 |
The chromosome 4, position 67754305 genetic variant in gene GNRHR (gonadotropin releasing hormone receptor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hypogonadotropic_hypogonadism_7_with_or_without_anosmia'] | AGTGCAGTTGCAGTGATGCATCATGGCTCTCTGCAACCTCTGCCTCCCAGGCTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGCGGGTCATCATGACCAGCATTTAAGCAATTTTTTTTTTAATAATTTGTTGATATGGGGCCTCCCTATATTGCCCAGTCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCCACCACAACCTCCCTCCCAACCTCCCAGGTAACTTGGACCATAGGTGCAAAAGTGGAAAGAAAGAATGTGGAAAATTTTAAGAGCATAAGCCTTAGCTAAATCACCTC... | AGTGCAGTTGCAGTGATGCATCATGGCTCTCTGCAACCTCTGCCTCCCAGGCTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGCGGGTCATCATGACCAGCATTTAAGCAATTTTTTTTTTAATAATTTGTTGATATGGGGCCTCCCTATATTGCCCAGTCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCCACCACAACCTCCCTCCCAACCTCCCAGGTAACTTGGACCATAGGTGCAAAAGTGGAAAGAAAGAATGTGGAAAATTTTAAGAGCATAAGCCTTAGCTAAATCACCTC... | pathogenic | 82,909 |
Chromosome 4, position 67755867, gene GNRHR (gonadotropin releasing hormone receptor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GTCCTGCAAAGACACTACTGAGGATCCAGGCCAGGCCAACCATGGACTGTCCGACTTTGCTGTTGCTTTTCAAAGCTAGGGGCCTCGTGATAGCCAGGGAGCGGTCCAGGCTGATCACCACCATCATGAAGGCTGGGGCATACATGGAGAAAAGCTTTAGATAACTGAGAACTTTGCAGAGTAACTCTCCAGCATACCATTGGACTGTAATGTTCCACATCCCATCCAGTGGCATGACAATCAGAGTCTCCAACAGGTTGGCTAAGGTCAGATGTTTTAAGAGCAGCTTCATTCTTGAGAGCTTTTTCCCTTTCTCTTTC... | GTCCTGCAAAGACACTACTGAGGATCCAGGCCAGGCCAACCATGGACTGTCCGACTTTGCTGTTGCTTTTCAAAGCTAGGGGCCTCGTGATAGCCAGGGAGCGGTCCAGGCTGATCACCACCATCATGAAGGCTGGGGCATACATGGAGAAAAGCTTTAGATAACTGAGAACTTTGCAGAGTAACTCTCCAGCATACCATTGGACTGTAATGTTCCACATCCCATCCAGTGGCATGACAATCAGAGTCTCCAACAGGTTGGCTAAGGTCAGATGTTTTAAGAGCAGCTTCATTCTTGAGAGCTTTTTCCCTTTCTCTTTC... | benign | 82,915 |
Is the genetic mutation found on chromosome 4 at position 76163202, within the gene SCARB2 (scavenger receptor class B member 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TATGAACTGAAGATCAGCATAAAATGTAATATGTTTTAGAAATCAGATGCATTTGAATGATATATTGGATGAAGCTACCATTTTACCCTGGGTCCCGAACTCTTATTTACTTCTGTTTTGCAAGTGAAATGGAGGAATACAACATAAAATGGTATATACGCATTTTGAGCACAAAGTTCGGTGAATGAAGCATACTGAATGAAGTTAGACCAGTAGCATTAACAAGTGATGCAGAGACATTTTACCCACAATAGTGGTCACAAAATTCTGGAGCTACCAGCACCCAACAACAACAAAATTACTATACAAGGGTTTATTAA... | TATGAACTGAAGATCAGCATAAAATGTAATATGTTTTAGAAATCAGATGCATTTGAATGATATATTGGATGAAGCTACCATTTTACCCTGGGTCCCGAACTCTTATTTACTTCTGTTTTGCAAGTGAAATGGAGGAATACAACATAAAATGGTATATACGCATTTTGAGCACAAAGTTCGGTGAATGAAGCATACTGAATGAAGTTAGACCAGTAGCATTAACAAGTGATGCAGAGACATTTTACCCACAATAGTGGTCACAAAATTCTGGAGCTACCAGCACCCAACAACAACAAAATTACTATACAAGGGTTTATTAA... | benign | 83,089 |
Evaluate if the mutation on chromosome 4 at position 76166311 in SCARB2 (scavenger receptor class B member 2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TTTGGGAGGCCAAGGCAGGCGGATTGCTTGAGCTCAAAAGTTTGAGACCAGCCTGAGCAATGTGGTGAAACCACCTCTCTACAAAAAATACAAAAATTAGCTGGGGCTGGGCATGGTGGCTCATGACTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCAGATCACTTGAGGTCATGAGTTTCAACATGGTGAAACCTCATCTCTGCTAAAAATACAAAAATTAGCCAGGGGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCCGTGAGC... | TTTGGGAGGCCAAGGCAGGCGGATTGCTTGAGCTCAAAAGTTTGAGACCAGCCTGAGCAATGTGGTGAAACCACCTCTCTACAAAAAATACAAAAATTAGCTGGGGCTGGGCATGGTGGCTCATGACTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCAGATCACTTGAGGTCATGAGTTTCAACATGGTGAAACCTCATCTCTGCTAAAAATACAAAAATTAGCCAGGGGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCACGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCCGTGAGC... | benign | 83,099 |
Located at chromosome 4 position 76169977, the variant affecting gene SCARB2 (scavenger receptor class B member 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Action_myoclonus-renal_failure_syndrome', 'Progressive_myoclonic_epilepsy'] | CTTGGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACTGTACCCAGCCAGGTATTTCTTTATAGCAACACAAGAACAGTCTAATACACCAAGAGAGTCAAGGTGCATGAGGGAAAGGCTTAGTGGAGTGGATAAAAGTTGACTAGATAGTAAGGCTTAGCCAAGTTACCTAAACACTCTGCTTCTGTTTCCTCATCTGTAAAATGGGGATAATACAAGGTTATATGTGAATCCACATAAGGTGCTGAGAACAATACCTGATCCATGGGAAGTACTCTGTAAGTGTATGATTAAATAAAACAAGTAAATTCCAAGACCA... | CTTGGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACTGTACCCAGCCAGGTATTTCTTTATAGCAACACAAGAACAGTCTAATACACCAAGAGAGTCAAGGTGCATGAGGGAAAGGCTTAGTGGAGTGGATAAAAGTTGACTAGATAGTAAGGCTTAGCCAAGTTACCTAAACACTCTGCTTCTGTTTCCTCATCTGTAAAATGGGGATAATACAAGGTTATATGTGAATCCACATAAGGTGCTGAGAACAATACCTGATCCATGGGAAGTACTCTGTAAGTGTATGATTAAATAAAACAAGTAAATTCCAAGACCA... | pathogenic | 83,108 |
Clinical significance of chromosome 4, position 76170033, gene SCARB2 (scavenger receptor class B member 2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTCTTTATAGCAACACAAGAACAGTCTAATACACCAAGAGAGTCAAGGTGCATGAGGGAAAGGCTTAGTGGAGTGGATAAAAGTTGACTAGATAGTAAGGCTTAGCCAAGTTACCTAAACACTCTGCTTCTGTTTCCTCATCTGTAAAATGGGGATAATACAAGGTTATATGTGAATCCACATAAGGTGCTGAGAACAATACCTGATCCATGGGAAGTACTCTGTAAGTGTATGATTAAATAAAACAAGTAAATTCCAAGACCAAGGCACCCATGAAAATGCTGATCATGCCCCATCCCTGAAGGGCAGGGGTGAGCAGG... | TTCTTTATAGCAACACAAGAACAGTCTAATACACCAAGAGAGTCAAGGTGCATGAGGGAAAGGCTTAGTGGAGTGGATAAAAGTTGACTAGATAGTAAGGCTTAGCCAAGTTACCTAAACACTCTGCTTCTGTTTCCTCATCTGTAAAATGGGGATAATACAAGGTTATATGTGAATCCACATAAGGTGCTGAGAACAATACCTGATCCATGGGAAGTACTCTGTAAGTGTATGATTAAATAAAACAAGTAAATTCCAAGACCAAGGCACCCATGAAAATGCTGATCATGCCCCATCCCTGAAGGGCAGGGGTGAGCAGG... | benign | 83,109 |
The chromosome 4, position 76174181 genetic variant in gene SCARB2 (scavenger receptor class B member 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Action_myoclonus-renal_failure_syndrome', 'Progressive_myoclonic_epilepsy'] | ACATACATAAATATATACATGTGGCTGTTAAAACTAGTCTTCAAGATGAAAAATACTTTTGTCAGTTGTATATATATATGTATATATACACATATATATGATATACGTATATATAAACAATTTTTTATATATATATAATTTTTTTGTTTTTTGAGACCAGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGTTGCAATCATAGCTCACTGCAGCCTTGAATTCCTACGCTCCAGCCTCAGCCTCCTGGGTATCTGGAACTATAGGTGTATGCTACTATGCCCAGCTAATTTTTAAATTTTTTGTTCAGATGGGGTCTC... | ACATACATAAATATATACATGTGGCTGTTAAAACTAGTCTTCAAGATGAAAAATACTTTTGTCAGTTGTATATATATATGTATATATACACATATATATGATATACGTATATATAAACAATTTTTTATATATATATAATTTTTTTGTTTTTTGAGACCAGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGTTGCAATCATAGCTCACTGCAGCCTTGAATTCCTACGCTCCAGCCTCAGCCTCCTGGGTATCTGGAACTATAGGTGTATGCTACTATGCCCAGCTAATTTTTAAATTTTTTGTTCAGATGGGGTCTC... | pathogenic | 83,113 |
Variant chromosome 4, position 76179693, gene SCARB2 (scavenger receptor class B member 2): benign or pathogenic? Disease(s)? | pathogenic; ['Action_myoclonus-renal_failure_syndrome', 'Inborn_genetic_diseases', 'Progressive_myoclonic_epilepsy'] | TGGATAAGCAAAATGTGGTATATCTACACAACGGAATATTCCTCAGTTATAAAAAGGAATGGAACACTGATACATGCTACAACATGGATGAACCCTGACAACATTACACTAAATTTAAAAAGCAGACACAGAAGGGCATATATTATATGACTCCATTTATATGAGATGTCCAGAATATGCAAATTCACAGAGCCAGAAAGTAGATTAGTGGTTGCCAGGGCCTGGGAGAGTAAGACAGGAATAGGAGTGACTGCTAAGAGAGTATGCAGTTTCTTTTTTGGGATAATGAAAATGTTCTGGAATTAGCAGTAATGGTTGCA... | TGGATAAGCAAAATGTGGTATATCTACACAACGGAATATTCCTCAGTTATAAAAAGGAATGGAACACTGATACATGCTACAACATGGATGAACCCTGACAACATTACACTAAATTTAAAAAGCAGACACAGAAGGGCATATATTATATGACTCCATTTATATGAGATGTCCAGAATATGCAAATTCACAGAGCCAGAAAGTAGATTAGTGGTTGCCAGGGCCTGGGAGAGTAAGACAGGAATAGGAGTGACTGCTAAGAGAGTATGCAGTTTCTTTTTTGGGATAATGAAAATGTTCTGGAATTAGCAGTAATGGTTGCA... | pathogenic | 83,137 |
Is the genetic mutation found on chromosome 4 at position 76195746, within the gene SCARB2 (scavenger receptor class B member 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Action_myoclonus-renal_failure_syndrome', 'Progressive_myoclonic_epilepsy'] | TGATACACCCATTGTATCTTGAAAGGAAATAACTTGTTTGATTTTACAGGCTTATAGGTAGAAGGAATTCATTTCTAGATGAGACCTGGGACTTAGGACTTTTGAGTTAATGCTGGAATGAGTTAAGACTTTGGGGGACTATTGAGAAGGGATGATTATATTTTAACATGTGAGAAGGACATGAAATTTGGAGGCCAGGGGTGGAATGATATAGTTTGGATGTCCCCTCCAAATCTCATGTTGAACTGTAATCTTCAGTGTTGGAGGTAGGGCCAGGTGGGAGCTGTTTGGGTCATAGGGGAGGATCCCTCAAGGTTTGG... | TGATACACCCATTGTATCTTGAAAGGAAATAACTTGTTTGATTTTACAGGCTTATAGGTAGAAGGAATTCATTTCTAGATGAGACCTGGGACTTAGGACTTTTGAGTTAATGCTGGAATGAGTTAAGACTTTGGGGGACTATTGAGAAGGGATGATTATATTTTAACATGTGAGAAGGACATGAAATTTGGAGGCCAGGGGTGGAATGATATAGTTTGGATGTCCCCTCCAAATCTCATGTTGAACTGTAATCTTCAGTGTTGGAGGTAGGGCCAGGTGGGAGCTGTTTGGGTCATAGGGGAGGATCCCTCAAGGTTTGG... | pathogenic | 83,152 |
Clinically, how would you classify the variant at chromosome 4, position 78065984, gene FRAS1 (Fraser extracellular matrix complex subunit 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Fraser_syndrome_1'] | CCAGAAATAATTAAATATGTCCATATAAGTAATTTAGAAAGTGAATTGTGTTCATATGTATTTATTTGAGATATATAGAATTATTTTAGTACACACATCACACACATACATATGTACACATATATATATTTCCTTTCTTATAACATACCATAGACTGAACTACTAAGTCTTGGAACAAGATTTCTTAAGGAAAAAGTAGTCAATTAAGAAGAATTTTCCTTCAAGGTTTTATCTCAAGTTATTCTTATTAGAACTTAAAGAATAATAATAAAAATAAATAAATAAATAAAATAAAAAAATAGGGAGTGTCTATAAAATCA... | CCAGAAATAATTAAATATGTCCATATAAGTAATTTAGAAAGTGAATTGTGTTCATATGTATTTATTTGAGATATATAGAATTATTTTAGTACACACATCACACACATACATATGTACACATATATATATTTCCTTTCTTATAACATACCATAGACTGAACTACTAAGTCTTGGAACAAGATTTCTTAAGGAAAAAGTAGTCAATTAAGAAGAATTTTCCTTCAAGGTTTTATCTCAAGTTATTCTTATTAGAACTTAAAGAATAATAATAAAAATAAATAAATAAATAAAATAAAAAAATAGGGAGTGTCTATAAAATCA... | pathogenic | 83,202 |
The mutation impacting FRAS1 (Fraser extracellular matrix complex subunit 1) on chromosome 4 at position 78237493: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGTATTTTAGTAGGACTCCAACTACTTGTTGACTAAGGAAAACAGGGTGAGAAAGTTTAGAAAGGAGGGAACAGGCCTTCATTAAGCAACTTAGGAACTATGAACTCTTGCTTCCTAAGGATCTATAGTGTGCCAGGCCAAGGATAGTTCCCACTTCAGGCACCCACAGTCTGGTCCAGCAAGGCTAACAGGAATATAAATGAGTGCAATAAAGTGTGACAGAGCCAGGCTCAGTGGCTCATGCCTGTAGGCCCAGCACTTTGGAAAGCTAAGGCAGGCAGATTGCTTAAGCCTAGGAGTTGGTCACCAGCCTGGTCAAC... | AGTATTTTAGTAGGACTCCAACTACTTGTTGACTAAGGAAAACAGGGTGAGAAAGTTTAGAAAGGAGGGAACAGGCCTTCATTAAGCAACTTAGGAACTATGAACTCTTGCTTCCTAAGGATCTATAGTGTGCCAGGCCAAGGATAGTTCCCACTTCAGGCACCCACAGTCTGGTCCAGCAAGGCTAACAGGAATATAAATGAGTGCAATAAAGTGTGACAGAGCCAGGCTCAGTGGCTCATGCCTGTAGGCCCAGCACTTTGGAAAGCTAAGGCAGGCAGATTGCTTAAGCCTAGGAGTTGGTCACCAGCCTGGTCAAC... | benign | 83,204 |
A genetic alteration at chromosome 4, position 78252442, in gene FRAS1 (Fraser extracellular matrix complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Fraser_syndrome_1'] | AACATGATTTCCTGTTATTAGATATTTGTGTAGCTTCCAATTTTCACTAAAATATTTTCAATTTCACTATAAAGAACAATAGATGGCATTTCTTGTATTTAAGCCTTTTGTGTGTCATTAATCATTTTCTTCAGATAACATATAAAAAGTGAAATTAGTAGGTCAAGGCATCTAAAGAGTTTGAGTATTGAAGCTGTGACATCTTTAGTCATTAAAATTTAATTTTAAGTCTTCTGTGTCTAGTGATAAGCCCAGGGGAAATACCACAGATACTGCATCCTCTTTTCAAGTGTGATTATACTGGGGAGGCATCCCCTGGT... | AACATGATTTCCTGTTATTAGATATTTGTGTAGCTTCCAATTTTCACTAAAATATTTTCAATTTCACTATAAAGAACAATAGATGGCATTTCTTGTATTTAAGCCTTTTGTGTGTCATTAATCATTTTCTTCAGATAACATATAAAAAGTGAAATTAGTAGGTCAAGGCATCTAAAGAGTTTGAGTATTGAAGCTGTGACATCTTTAGTCATTAAAATTTAATTTTAAGTCTTCTGTGTCTAGTGATAAGCCCAGGGGAAATACCACAGATACTGCATCCTCTTTTCAAGTGTGATTATACTGGGGAGGCATCCCCTGGT... | pathogenic | 83,209 |
Does the chromosome 4 mutation at position 78252458 within gene FRAS1 (Fraser extracellular matrix complex subunit 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Fraser_syndrome_1'] | ATTAGATATTTGTGTAGCTTCCAATTTTCACTAAAATATTTTCAATTTCACTATAAAGAACAATAGATGGCATTTCTTGTATTTAAGCCTTTTGTGTGTCATTAATCATTTTCTTCAGATAACATATAAAAAGTGAAATTAGTAGGTCAAGGCATCTAAAGAGTTTGAGTATTGAAGCTGTGACATCTTTAGTCATTAAAATTTAATTTTAAGTCTTCTGTGTCTAGTGATAAGCCCAGGGGAAATACCACAGATACTGCATCCTCTTTTCAAGTGTGATTATACTGGGGAGGCATCCCCTGGTTGAGTGATTCCAGGTG... | ATTAGATATTTGTGTAGCTTCCAATTTTCACTAAAATATTTTCAATTTCACTATAAAGAACAATAGATGGCATTTCTTGTATTTAAGCCTTTTGTGTGTCATTAATCATTTTCTTCAGATAACATATAAAAAGTGAAATTAGTAGGTCAAGGCATCTAAAGAGTTTGAGTATTGAAGCTGTGACATCTTTAGTCATTAAAATTTAATTTTAAGTCTTCTGTGTCTAGTGATAAGCCCAGGGGAAATACCACAGATACTGCATCCTCTTTTCAAGTGTGATTATACTGGGGAGGCATCCCCTGGTTGAGTGATTCCAGGTG... | pathogenic | 83,211 |
Mutation at chromosome 4, position 78252458, within FRAS1 (Fraser extracellular matrix complex subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Fraser_syndrome_1'] | ATTAGATATTTGTGTAGCTTCCAATTTTCACTAAAATATTTTCAATTTCACTATAAAGAACAATAGATGGCATTTCTTGTATTTAAGCCTTTTGTGTGTCATTAATCATTTTCTTCAGATAACATATAAAAAGTGAAATTAGTAGGTCAAGGCATCTAAAGAGTTTGAGTATTGAAGCTGTGACATCTTTAGTCATTAAAATTTAATTTTAAGTCTTCTGTGTCTAGTGATAAGCCCAGGGGAAATACCACAGATACTGCATCCTCTTTTCAAGTGTGATTATACTGGGGAGGCATCCCCTGGTTGAGTGATTCCAGGTG... | ATTAGATATTTGTGTAGCTTCCAATTTTCACTAAAATATTTTCAATTTCACTATAAAGAACAATAGATGGCATTTCTTGTATTTAAGCCTTTTGTGTGTCATTAATCATTTTCTTCAGATAACATATAAAAAGTGAAATTAGTAGGTCAAGGCATCTAAAGAGTTTGAGTATTGAAGCTGTGACATCTTTAGTCATTAAAATTTAATTTTAAGTCTTCTGTGTCTAGTGATAAGCCCAGGGGAAATACCACAGATACTGCATCCTCTTTTCAAGTGTGATTATACTGGGGAGGCATCCCCTGGTTGAGTGATTCCAGGTG... | pathogenic | 83,212 |
The mutation impacting FRAS1 (Fraser extracellular matrix complex subunit 1) on chromosome 4 at position 78252528: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cryptophthalmos_syndrome', 'Fraser_syndrome_1'] | CATTTCTTGTATTTAAGCCTTTTGTGTGTCATTAATCATTTTCTTCAGATAACATATAAAAAGTGAAATTAGTAGGTCAAGGCATCTAAAGAGTTTGAGTATTGAAGCTGTGACATCTTTAGTCATTAAAATTTAATTTTAAGTCTTCTGTGTCTAGTGATAAGCCCAGGGGAAATACCACAGATACTGCATCCTCTTTTCAAGTGTGATTATACTGGGGAGGCATCCCCTGGTTGAGTGATTCCAGGTGTTATCGTGAGGGAAGGCTTTGTGTGTGAGAGAATTTCTTTCCCTTCACTGTAGCTTCACCAAGTCTAGGT... | CATTTCTTGTATTTAAGCCTTTTGTGTGTCATTAATCATTTTCTTCAGATAACATATAAAAAGTGAAATTAGTAGGTCAAGGCATCTAAAGAGTTTGAGTATTGAAGCTGTGACATCTTTAGTCATTAAAATTTAATTTTAAGTCTTCTGTGTCTAGTGATAAGCCCAGGGGAAATACCACAGATACTGCATCCTCTTTTCAAGTGTGATTATACTGGGGAGGCATCCCCTGGTTGAGTGATTCCAGGTGTTATCGTGAGGGAAGGCTTTGTGTGTGAGAGAATTTCTTTCCCTTCACTGTAGCTTCACCAAGTCTAGGT... | pathogenic | 83,215 |
Regarding the variant at chromosome 4 and position 78255341, affecting gene FRAS1 (Fraser extracellular matrix complex subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Fraser_syndrome_1'] | CCTTATTCCCTGAAAATTGCTTATTCTGTTCTTTTTCAAGGTGTACTGATTTCATATTGTTCAAACACACGTTTTACAATCAATTTGTACAATAGTTGTCCTGAGGTGACATACATTCTCAGCTTGTGAAGATAACGGGATTAAAAGATTAAAGACAGGCATAAGAAATTGTAAGAGTATTATTAGAGAGGTGATAAATGTCCATGAAATCTTCACAGTTTGTGTTCTTCTGCCTTGGTTCCAGCTGGTCCCTCCGTTTGGGGTCCCTGACTTCCCGCAACACATGGCGACACCCCAACTCTTCTCTTTCTTGCTCAGTG... | CCTTATTCCCTGAAAATTGCTTATTCTGTTCTTTTTCAAGGTGTACTGATTTCATATTGTTCAAACACACGTTTTACAATCAATTTGTACAATAGTTGTCCTGAGGTGACATACATTCTCAGCTTGTGAAGATAACGGGATTAAAAGATTAAAGACAGGCATAAGAAATTGTAAGAGTATTATTAGAGAGGTGATAAATGTCCATGAAATCTTCACAGTTTGTGTTCTTCTGCCTTGGTTCCAGCTGGTCCCTCCGTTTGGGGTCCCTGACTTCCCGCAACACATGGCGACACCCCAACTCTTCTCTTTCTTGCTCAGTG... | pathogenic | 83,220 |
Variant at chromosome position 78266893, chromosome 4, gene FRAS1 (Fraser extracellular matrix complex subunit 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Fraser_syndrome_1'] | GACCTTGGAATTGTTCATTCTTATCAGAGTCCCAGGTGACTAAGAAATGTTAAATGAGAGGCAAGTGCTGTTATAGATGCTTGGGGGCATGATTTAGTTGGCTGTGAATGAAATTTTCCTGCTGTTGTGGATCTTATTAATATCACTTTGTGATGGATTGTTCCTGTTCTGCGTGTTAAGGATGAGACTGTAGTCCGAGTCCCTGGAAAATGTTGCCCGCAGTGCTCTGCAAGATCCTGCTCTGCAGCTGGCCAAGTATACGAGGTAAGCTTTCATGCTCCCCATGTAGGTGTTTTGACATCCGTTCTCACACATCTGCC... | GACCTTGGAATTGTTCATTCTTATCAGAGTCCCAGGTGACTAAGAAATGTTAAATGAGAGGCAAGTGCTGTTATAGATGCTTGGGGGCATGATTTAGTTGGCTGTGAATGAAATTTTCCTGCTGTTGTGGATCTTATTAATATCACTTTGTGATGGATTGTTCCTGTTCTGCGTGTTAAGGATGAGACTGTAGTCCGAGTCCCTGGAAAATGTTGCCCGCAGTGCTCTGCAAGATCCTGCTCTGCAGCTGGCCAAGTATACGAGGTAAGCTTTCATGCTCCCCATGTAGGTGTTTTGACATCCGTTCTCACACATCTGCC... | pathogenic | 83,229 |
Evaluate this variant at chromosome 4, position 78282870, gene FRAS1 (Fraser extracellular matrix complex subunit 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Fraser_syndrome_1'] | TCTTGGCACATTTTTTTAAAAAGCTGAGAACATTGGCATTATTATTATTTTGCTGTTGGCATTGTTTCCTAGTGGTAGATCACACTTTAGTCATCCTCATTTCTTAAGAATTTAGGAGGTTTTAAAGCCTCCCTATAAATATTGAATTTATATTTTCTCAATCATAGTATCAATTTTCCTACTCATTTTTGGAGATAAACTCAGTGAAATTAAAGAAAACAAAGTTATTTTAAATAAGTACAAATCTCCATCATGCTCTGGCACCATGCAAAATTCAAGAATTTGCCCTTGCAAGTTTAGGTCCCTTGAGCATAAAGTCC... | TCTTGGCACATTTTTTTAAAAAGCTGAGAACATTGGCATTATTATTATTTTGCTGTTGGCATTGTTTCCTAGTGGTAGATCACACTTTAGTCATCCTCATTTCTTAAGAATTTAGGAGGTTTTAAAGCCTCCCTATAAATATTGAATTTATATTTTCTCAATCATAGTATCAATTTTCCTACTCATTTTTGGAGATAAACTCAGTGAAATTAAAGAAAACAAAGTTATTTTAAATAAGTACAAATCTCCATCATGCTCTGGCACCATGCAAAATTCAAGAATTTGCCCTTGCAAGTTTAGGTCCCTTGAGCATAAAGTCC... | pathogenic | 83,244 |
Gene mutation in FRAS1 (Fraser extracellular matrix complex subunit 1) at chromosome 4, position 78317428—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Fraser_syndrome_1'] | GTTCAATGAGTAATTCTTCAATTCTCTTTCAACTGTGAAAACAAAAAGCACAGAGTCCGATGAAATGTTGGAATCAAGGAAACAGAATTTTGCTGAGCAGCCAGAAAATGAGATTATGATATTGATACCCATTGTGGATATTGTAAAGAATAGACTTCACTGCTTCTTTTGCTCACTATTGCCTTTCTCTGATGGGTTTTTTGCCTCCCCTTAGCTTGTGACCAATCCTGTGACAGTTGTGGCCCCAGTAGCCCCAGGTGTCTTACCTGTACTGAGAAGACAGTGCTGCATGATGGGAAATGCATGTCTGAATGCCCTGG... | GTTCAATGAGTAATTCTTCAATTCTCTTTCAACTGTGAAAACAAAAAGCACAGAGTCCGATGAAATGTTGGAATCAAGGAAACAGAATTTTGCTGAGCAGCCAGAAAATGAGATTATGATATTGATACCCATTGTGGATATTGTAAAGAATAGACTTCACTGCTTCTTTTGCTCACTATTGCCTTTCTCTGATGGGTTTTTTGCCTCCCCTTAGCTTGTGACCAATCCTGTGACAGTTGTGGCCCCAGTAGCCCCAGGTGTCTTACCTGTACTGAGAAGACAGTGCTGCATGATGGGAAATGCATGTCTGAATGCCCTGG... | pathogenic | 83,259 |
Mutation found at chromosome 4 position 78317428, gene FRAS1 (Fraser extracellular matrix complex subunit 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['FRAS1-related_disorder', 'Fraser_syndrome_1'] | GTTCAATGAGTAATTCTTCAATTCTCTTTCAACTGTGAAAACAAAAAGCACAGAGTCCGATGAAATGTTGGAATCAAGGAAACAGAATTTTGCTGAGCAGCCAGAAAATGAGATTATGATATTGATACCCATTGTGGATATTGTAAAGAATAGACTTCACTGCTTCTTTTGCTCACTATTGCCTTTCTCTGATGGGTTTTTTGCCTCCCCTTAGCTTGTGACCAATCCTGTGACAGTTGTGGCCCCAGTAGCCCCAGGTGTCTTACCTGTACTGAGAAGACAGTGCTGCATGATGGGAAATGCATGTCTGAATGCCCTGG... | GTTCAATGAGTAATTCTTCAATTCTCTTTCAACTGTGAAAACAAAAAGCACAGAGTCCGATGAAATGTTGGAATCAAGGAAACAGAATTTTGCTGAGCAGCCAGAAAATGAGATTATGATATTGATACCCATTGTGGATATTGTAAAGAATAGACTTCACTGCTTCTTTTGCTCACTATTGCCTTTCTCTGATGGGTTTTTTGCCTCCCCTTAGCTTGTGACCAATCCTGTGACAGTTGTGGCCCCAGTAGCCCCAGGTGTCTTACCTGTACTGAGAAGACAGTGCTGCATGATGGGAAATGCATGTCTGAATGCCCTGG... | pathogenic | 83,260 |
Evaluate this variant at chromosome 4, position 78317476, gene FRAS1 (Fraser extracellular matrix complex subunit 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Fraser_syndrome_1'] | CACAGAGTCCGATGAAATGTTGGAATCAAGGAAACAGAATTTTGCTGAGCAGCCAGAAAATGAGATTATGATATTGATACCCATTGTGGATATTGTAAAGAATAGACTTCACTGCTTCTTTTGCTCACTATTGCCTTTCTCTGATGGGTTTTTTGCCTCCCCTTAGCTTGTGACCAATCCTGTGACAGTTGTGGCCCCAGTAGCCCCAGGTGTCTTACCTGTACTGAGAAGACAGTGCTGCATGATGGGAAATGCATGTCTGAATGCCCTGGCGGGTACTATGCTGATGCCACTGGCAGGTGCAAAGGTAAGAGATGGGT... | CACAGAGTCCGATGAAATGTTGGAATCAAGGAAACAGAATTTTGCTGAGCAGCCAGAAAATGAGATTATGATATTGATACCCATTGTGGATATTGTAAAGAATAGACTTCACTGCTTCTTTTGCTCACTATTGCCTTTCTCTGATGGGTTTTTTGCCTCCCCTTAGCTTGTGACCAATCCTGTGACAGTTGTGGCCCCAGTAGCCCCAGGTGTCTTACCTGTACTGAGAAGACAGTGCTGCATGATGGGAAATGCATGTCTGAATGCCCTGGCGGGTACTATGCTGATGCCACTGGCAGGTGCAAAGGTAAGAGATGGGT... | pathogenic | 83,261 |
A mutation at chromosome position 78337769 on chromosome 4 in gene FRAS1 (Fraser extracellular matrix complex subunit 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Fraser_syndrome_1'] | CAAAAGGAGATGGAGGTATTTATTTCCTTCTTTAACATGTCAGTCCAGTATGTTTTTTAAGATCACCTTTATGTTTTAGTGACAGAGATTTTGAAAATCACTAGTTGGGATTAGTACAGAATTTTGTTGGAATTGACACAGTACTAAAATTTAAGGACTTTATTGTAGCACCGTGTGTGGTGGTTTTTTTTTTTTTTTTGGTATATACAGGAAAAAAAACATTCTATCATGATTTCTCTTTTATTTCTAAAAAATAGACAGTTGGGGCCTGCTGATAGGAAAAAGCCAACTGATATGAAATTATATTACATGAATTTCTG... | CAAAAGGAGATGGAGGTATTTATTTCCTTCTTTAACATGTCAGTCCAGTATGTTTTTTAAGATCACCTTTATGTTTTAGTGACAGAGATTTTGAAAATCACTAGTTGGGATTAGTACAGAATTTTGTTGGAATTGACACAGTACTAAAATTTAAGGACTTTATTGTAGCACCGTGTGTGGTGGTTTTTTTTTTTTTTTTGGTATATACAGGAAAAAAAACATTCTATCATGATTTCTCTTTTATTTCTAAAAAATAGACAGTTGGGGCCTGCTGATAGGAAAAAGCCAACTGATATGAAATTATATTACATGAATTTCTG... | pathogenic | 83,270 |
Variant at chromosome position 78372871, chromosome 4, gene FRAS1 (Fraser extracellular matrix complex subunit 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CAGCAACAGGAAAGCAAAGGTAAAGAACAGGTTTTACTTGCTCCTGTCCATTTCCTCATTCCTGACTCCTTCCACATTTCTCTCTATCCCTCTGATTCTGGCAGAGAAGCTAGAGCTTGGATATGGTGGTCAAACATCTGTCAAGTAAACTTAGGATGCTTTAAGGCTCTGCAAAATTGCACACTTTCCATTCCAAGAAATTCTACTTCGTTGTCAACTTAGGTGGTCTGCTGTGCTCGAGACCACAGAATTTTTTTTCTGTTTTTTTGTTTTTTTTTTTTTTTGCCTTCTAACCAGTAGCTGTCAGTTTGTGGTGAAAA... | CAGCAACAGGAAAGCAAAGGTAAAGAACAGGTTTTACTTGCTCCTGTCCATTTCCTCATTCCTGACTCCTTCCACATTTCTCTCTATCCCTCTGATTCTGGCAGAGAAGCTAGAGCTTGGATATGGTGGTCAAACATCTGTCAAGTAAACTTAGGATGCTTTAAGGCTCTGCAAAATTGCACACTTTCCATTCCAAGAAATTCTACTTCGTTGTCAACTTAGGTGGTCTGCTGTGCTCGAGACCACAGAATTTTTTTTCTGTTTTTTTGTTTTTTTTTTTTTTTGCCTTCTAACCAGTAGCTGTCAGTTTGTGGTGAAAA... | benign | 83,280 |
Variant in gene FRAS1 (Fraser extracellular matrix complex subunit 1), located at chromosome 4 position 78374264: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | ACTTTGGTCAATGCCTGGTTTTGAGAGATAGAAACCCATGCAGCTGGTGTTATTGGTGGCAGCAGATGCATTCTTAGTTGAGTGTCTGACATCTCTTTACCTATTGAGCATTGAGTATTTGGAAGAAGTCAGGGTTAGGTTTGTGGGGCAAGTTGGCCACTCCCTGCGGCAGGTTTTGCATGAAGACTTGATATGGCACAGGGATAAAGAACTAAGACCAGAGTGATCTGGTTTCTCAGCAGCCCTGCCAACAAGCAGGCTCAGCACAAGCATAGAGTGCTCCTTGTACATGTCCGTGTCTAACATAATTAGGGAACACT... | ACTTTGGTCAATGCCTGGTTTTGAGAGATAGAAACCCATGCAGCTGGTGTTATTGGTGGCAGCAGATGCATTCTTAGTTGAGTGTCTGACATCTCTTTACCTATTGAGCATTGAGTATTTGGAAGAAGTCAGGGTTAGGTTTGTGGGGCAAGTTGGCCACTCCCTGCGGCAGGTTTTGCATGAAGACTTGATATGGCACAGGGATAAAGAACTAAGACCAGAGTGATCTGGTTTCTCAGCAGCCCTGCCAACAAGCAGGCTCAGCACAAGCATAGAGTGCTCCTTGTACATGTCCGTGTCTAACATAATTAGGGAACACT... | benign | 83,283 |
Is the genetic change at chromosome 4, position 78375788, within gene FRAS1 (Fraser extracellular matrix complex subunit 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Fraser_syndrome_1'] | ACTCCAGCCTGGGCAACAAGCAAAACTCCGTCTTAAATAATAATAATAATAATAATAGTAATAGCTGCTGATATCTGTCATTCACTTTATAGTTTATCTAGCATTTTCCATGGGTGGGTAGGACAGTATATCAACCCCCATTTTATAGAGAAGAACACAGGCTCAGTGAGGTAGAGTGACTAATCCTAAGTGTCCCAGCTGGTAAGTATCATAGTGACAACCAGAACCCAGACTCCTTGACTCTTCATATGGTCCTTTGCCCAGTACACTAGGCTGTACTGCTGCTGGACATCTCATGCTGCCTTTCCACAAAGGCCTGG... | ACTCCAGCCTGGGCAACAAGCAAAACTCCGTCTTAAATAATAATAATAATAATAATAGTAATAGCTGCTGATATCTGTCATTCACTTTATAGTTTATCTAGCATTTTCCATGGGTGGGTAGGACAGTATATCAACCCCCATTTTATAGAGAAGAACACAGGCTCAGTGAGGTAGAGTGACTAATCCTAAGTGTCCCAGCTGGTAAGTATCATAGTGACAACCAGAACCCAGACTCCTTGACTCTTCATATGGTCCTTTGCCCAGTACACTAGGCTGTACTGCTGCTGGACATCTCATGCTGCCTTTCCACAAAGGCCTGG... | pathogenic | 83,285 |
Benign or pathogenic: chromosome 4, position 78441199, gene FRAS1 (Fraser extracellular matrix complex subunit 1) variant? Disease(s) if pathogenic? | pathogenic; ['Cryptophthalmos_syndrome', 'Fraser_syndrome_1'] | GGCTGCCAAATATTTCCCCCAAAATATCCAGGCAGCGGTATGAAGATATGCATGGTTTTCAATCATGAGTGTTTTTTTAAGTATGAAAATAAATATGCAGAAGATCAAATCATTATATCTGCATTATTTAGTCAACAAATATTTATGTGCTAGCCACCATGCTAAATGTTGTTAGTACTGGGAATAAAAATAGAAAAATATTATATCTTTGAGGAGTTTACAATCTAATATTGGCAGCAACTAAAACTTGGACAATGACCCCAAATCACTCCTTAAATCAAGTCAGTACTTAGCACTGTAAACAATATTGACGGTTCCTT... | GGCTGCCAAATATTTCCCCCAAAATATCCAGGCAGCGGTATGAAGATATGCATGGTTTTCAATCATGAGTGTTTTTTTAAGTATGAAAATAAATATGCAGAAGATCAAATCATTATATCTGCATTATTTAGTCAACAAATATTTATGTGCTAGCCACCATGCTAAATGTTGTTAGTACTGGGAATAAAAATAGAAAAATATTATATCTTTGAGGAGTTTACAATCTAATATTGGCAGCAACTAAAACTTGGACAATGACCCCAAATCACTCCTTAAATCAAGTCAGTACTTAGCACTGTAAACAATATTGACGGTTCCTT... | pathogenic | 83,319 |
Classify the chromosome 4 variant at position 78446795 affecting gene FRAS1 (Fraser extracellular matrix complex subunit 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['FRAS1-related_disorder', 'Fraser_syndrome_1'] | GGGATGAGAGGAGTAATCTGAGCCAGCATTTTCTGTGGAGCTCTGAATGGTAACTGGGCATCTCGGTACCTGAATGGTGGTACCCAAGCGCCTCAGTGCCTGAATCCCACCTGAGCATCATAGTATCTGAATGGTACCTGAGCTCTGAATGGTCCTGGAGCATCACAATAGCCCTGGTGCTCTATCCCAGGGGCTGGGCTCTGACCCATGCAGAGGTTCCCTTAAGAAACTGGGAGGTCCAATGAAAACATGCTGCAAATGTTTCTTCGATTAAAAGATACACAGTTAACACTACAGATGTTTTTAGATTAAAAGATATG... | GGGATGAGAGGAGTAATCTGAGCCAGCATTTTCTGTGGAGCTCTGAATGGTAACTGGGCATCTCGGTACCTGAATGGTGGTACCCAAGCGCCTCAGTGCCTGAATCCCACCTGAGCATCATAGTATCTGAATGGTACCTGAGCTCTGAATGGTCCTGGAGCATCACAATAGCCCTGGTGCTCTATCCCAGGGGCTGGGCTCTGACCCATGCAGAGGTTCCCTTAAGAAACTGGGAGGTCCAATGAAAACATGCTGCAAATGTTTCTTCGATTAAAAGATACACAGTTAACACTACAGATGTTTTTAGATTAAAAGATATG... | pathogenic | 83,321 |
A genetic variant at chromosome 4, position 78446858, affecting gene FRAS1 (Fraser extracellular matrix complex subunit 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Fraser_syndrome_1'] | CGGTACCTGAATGGTGGTACCCAAGCGCCTCAGTGCCTGAATCCCACCTGAGCATCATAGTATCTGAATGGTACCTGAGCTCTGAATGGTCCTGGAGCATCACAATAGCCCTGGTGCTCTATCCCAGGGGCTGGGCTCTGACCCATGCAGAGGTTCCCTTAAGAAACTGGGAGGTCCAATGAAAACATGCTGCAAATGTTTCTTCGATTAAAAGATACACAGTTAACACTACAGATGTTTTTAGATTAAAAGATATGCATTTAACATTTTCTTATGTAGTGAAAGAGGGTTCCTCATGCAGGATATGCCAGATAGAATGG... | CGGTACCTGAATGGTGGTACCCAAGCGCCTCAGTGCCTGAATCCCACCTGAGCATCATAGTATCTGAATGGTACCTGAGCTCTGAATGGTCCTGGAGCATCACAATAGCCCTGGTGCTCTATCCCAGGGGCTGGGCTCTGACCCATGCAGAGGTTCCCTTAAGAAACTGGGAGGTCCAATGAAAACATGCTGCAAATGTTTCTTCGATTAAAAGATACACAGTTAACACTACAGATGTTTTTAGATTAAAAGATATGCATTTAACATTTTCTTATGTAGTGAAAGAGGGTTCCTCATGCAGGATATGCCAGATAGAATGG... | pathogenic | 83,323 |
Variant at chromosome 4, position 78464515, gene FRAS1 (Fraser extracellular matrix complex subunit 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Fraser_syndrome_1'] | ATGTTTAAAAAAATCAATCTCAAGAGGAAGGCAAAATCTATCACCTTTCTTAATCAGTCTTAGACTTCCATAAAGGGAACAGTGAATTAGGTGACCAGTTGATGGTGAGAATCCAGATGAGATTTTCCTGTGAGCTGTGAGAGTGGATTCACAGCAGGGGGAAGAGATTTAAATTTCTCAGTGCAGCAAGTCTGAAGTTGTTAAATTTTTAAAGAATGGTATGGATTTCTGTCCAGAGCCAAAAGACAAAGCTATAAGACAGGGTGCAACATTTCTTGCCTGTCAAGAACTGATGTAGCAAGCACAGAAACATAAAATGC... | ATGTTTAAAAAAATCAATCTCAAGAGGAAGGCAAAATCTATCACCTTTCTTAATCAGTCTTAGACTTCCATAAAGGGAACAGTGAATTAGGTGACCAGTTGATGGTGAGAATCCAGATGAGATTTTCCTGTGAGCTGTGAGAGTGGATTCACAGCAGGGGGAAGAGATTTAAATTTCTCAGTGCAGCAAGTCTGAAGTTGTTAAATTTTTAAAGAATGGTATGGATTTCTGTCCAGAGCCAAAAGACAAAGCTATAAGACAGGGTGCAACATTTCTTGCCTGTCAAGAACTGATGTAGCAAGCACAGAAACATAAAATGC... | pathogenic | 83,344 |
Determine if the mutation at chromosome 4, position 78464557 in gene FRAS1 (Fraser extracellular matrix complex subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic | ACCTTTCTTAATCAGTCTTAGACTTCCATAAAGGGAACAGTGAATTAGGTGACCAGTTGATGGTGAGAATCCAGATGAGATTTTCCTGTGAGCTGTGAGAGTGGATTCACAGCAGGGGGAAGAGATTTAAATTTCTCAGTGCAGCAAGTCTGAAGTTGTTAAATTTTTAAAGAATGGTATGGATTTCTGTCCAGAGCCAAAAGACAAAGCTATAAGACAGGGTGCAACATTTCTTGCCTGTCAAGAACTGATGTAGCAAGCACAGAAACATAAAATGCCTCATCAAAAAATTAATGCCCCCATATTCGGGAGGCTCTTGT... | ACCTTTCTTAATCAGTCTTAGACTTCCATAAAGGGAACAGTGAATTAGGTGACCAGTTGATGGTGAGAATCCAGATGAGATTTTCCTGTGAGCTGTGAGAGTGGATTCACAGCAGGGGGAAGAGATTTAAATTTCTCAGTGCAGCAAGTCTGAAGTTGTTAAATTTTTAAAGAATGGTATGGATTTCTGTCCAGAGCCAAAAGACAAAGCTATAAGACAGGGTGCAACATTTCTTGCCTGTCAAGAACTGATGTAGCAAGCACAGAAACATAAAATGCCTCATCAAAAAATTAATGCCCCCATATTCGGGAGGCTCTTGT... | pathogenic | 83,345 |
Variant in gene FRAS1 (Fraser extracellular matrix complex subunit 1), located at chromosome 4 position 78472329: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic | GTGTATAGTTTAAGATGCTCTTTGAAAAGACCCCAAAATATAGTAGGTCAAGCTAGATAGAAGTTTATTTATTTTTTTCTCACATATAGGGTGGACGTAAGTGGGCAGTGCAGGGCTCTACATGAGCACTTAGAGATGTGGATTCCCTCCACCTTATTGTTCTGTCATCACTAAGTGGTTGCTATTGACTCCTGGCCAAACTTCTTCAGAAATTCATCAATATACAGTTGGCCCTCAGTATCCACAGGTTCCACATCTGTGGATTCTAACAACTGTGGCTCAAAAATGTTTGAAGGAAAAAAAATAAGAAATAATACAAA... | GTGTATAGTTTAAGATGCTCTTTGAAAAGACCCCAAAATATAGTAGGTCAAGCTAGATAGAAGTTTATTTATTTTTTTCTCACATATAGGGTGGACGTAAGTGGGCAGTGCAGGGCTCTACATGAGCACTTAGAGATGTGGATTCCCTCCACCTTATTGTTCTGTCATCACTAAGTGGTTGCTATTGACTCCTGGCCAAACTTCTTCAGAAATTCATCAATATACAGTTGGCCCTCAGTATCCACAGGTTCCACATCTGTGGATTCTAACAACTGTGGCTCAAAAATGTTTGAAGGAAAAAAAATAAGAAATAATACAAA... | pathogenic | 83,357 |
Clinical significance of chromosome 4, position 78479625, gene FRAS1 (Fraser extracellular matrix complex subunit 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | AGATTTTGCTCCTTCATGTCCTTATACAATAAAGCAGCCCTCCTGTACAGGTTAAGAATGGGAAGAGGTGGCTGGGTGTTCCAGGTGATGCAGCAGGGAACCAGGGCTGGGAGAACCAGCTATTTCAGTCAGTGCTCTGCCCACTGGACTTGGATGCTCTTTTCCTATGATGCCCTGGGGAAGCAGAGCAGGGGAAGCTGAGGCACAGCTTAACTTCTTGTTGGTTCCTTTGTGACAGGTCCAGTTTGATGAGCGAGAGGACACCAAGTCCTGCACCATTGTCATCAACGATGATGACGTGTTTGAAAATGTTGAGAGTT... | AGATTTTGCTCCTTCATGTCCTTATACAATAAAGCAGCCCTCCTGTACAGGTTAAGAATGGGAAGAGGTGGCTGGGTGTTCCAGGTGATGCAGCAGGGAACCAGGGCTGGGAGAACCAGCTATTTCAGTCAGTGCTCTGCCCACTGGACTTGGATGCTCTTTTCCTATGATGCCCTGGGGAAGCAGAGCAGGGGAAGCTGAGGCACAGCTTAACTTCTTGTTGGTTCCTTTGTGACAGGTCCAGTTTGATGAGCGAGAGGACACCAAGTCCTGCACCATTGTCATCAACGATGATGACGTGTTTGAAAATGTTGAGAGTT... | pathogenic | 83,369 |
Classify the chromosome 4 variant at position 78499785 affecting gene FRAS1 (Fraser extracellular matrix complex subunit 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Fraser_syndrome_1'] | CTTCATTCTGTCTGATTCTAGAATCTGTACTCTTAAGTATACTCTTAAGTGACTCTTAGGGTTTCTAGGGAAATATCAGTAACTAACTTGGACATTGGATAAAATAAGAAACTCCAGCCTCAAAGTTGAATTAGTCCTTGACCCCAGGAGACTCAAGTTCAGATCCCAAAGTGAACCTCTCCCAGGTACATAGAAAACCCATCATTGAGACTCAGACAAATAAGATTTATACTCTGCTGCAACTAACACAAGAACAGACAACCAAACACCACATGTTCTCACTCATAAGTGGGAGGTGAACAATGAGAACACATGGACAC... | CTTCATTCTGTCTGATTCTAGAATCTGTACTCTTAAGTATACTCTTAAGTGACTCTTAGGGTTTCTAGGGAAATATCAGTAACTAACTTGGACATTGGATAAAATAAGAAACTCCAGCCTCAAAGTTGAATTAGTCCTTGACCCCAGGAGACTCAAGTTCAGATCCCAAAGTGAACCTCTCCCAGGTACATAGAAAACCCATCATTGAGACTCAGACAAATAAGATTTATACTCTGCTGCAACTAACACAAGAACAGACAACCAAACACCACATGTTCTCACTCATAAGTGGGAGGTGAACAATGAGAACACATGGACAC... | pathogenic | 83,384 |
Benign or pathogenic: chromosome 4, position 78508797, gene FRAS1 (Fraser extracellular matrix complex subunit 1) variant? Disease(s) if pathogenic? | pathogenic; ['Fraser_syndrome_1'] | GGGCTGCACCAATGTCCAACCAGTCCCAGTGAGATGAACCAGGTACCTCAGTTGGAAATGGAGAAATCACCTGTCTTCTGCGTCAATCATGCTGGGAGCTGCAGACCAGAGCTGTTCCTATTCGGCCATCTTGGAACGGTACCCAAAGTGGGTCTTGAAGGCTTGAACCCTCACCTGTTCCAGGTCACTCACCCTCCATGTTACCATCTTTGTGGAGGCTGGCTTGGTAGATAACCTTGAGCCACTACTTCTCAGGAGACAGCTTTGAAGGATATCTGTATGTGCAAGCCCTCACAGCCAAACAGGAGCTCATGCAAAAT... | GGGCTGCACCAATGTCCAACCAGTCCCAGTGAGATGAACCAGGTACCTCAGTTGGAAATGGAGAAATCACCTGTCTTCTGCGTCAATCATGCTGGGAGCTGCAGACCAGAGCTGTTCCTATTCGGCCATCTTGGAACGGTACCCAAAGTGGGTCTTGAAGGCTTGAACCCTCACCTGTTCCAGGTCACTCACCCTCCATGTTACCATCTTTGTGGAGGCTGGCTTGGTAGATAACCTTGAGCCACTACTTCTCAGGAGACAGCTTTGAAGGATATCTGTATGTGCAAGCCCTCACAGCCAAACAGGAGCTCATGCAAAAT... | pathogenic | 83,390 |
Is the genetic variant on chromosome 4, position 78521645, gene FRAS1 (Fraser extracellular matrix complex subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CAAAGTGGGGCCACCTCAAAGTGCAGATCTGTGGTTCCTGAAAAGAATGATGTCCTTCTGTCCTGATGCTGGAAGGTCTCAGCCCAGATAGCTAAGGTCCCAGCGTAGAGGATGGCAAGTGACAAATGAGTCCTCTACTGCCCGTTAGGGATTCAGATGGGTGTGTGTTCTTTTGGAATATAACCCAAATGATTTTCATTTTCTCCTAGTGAAAAATTGTGTGGTTCTTGTTTTTACAGAGCAAAAGGATCTTCAAATCAGATGCAAGGAAATGGAAAAATGTGTCAAGAGCACTTGAAATATTTATGTCAAGTAGCCCA... | CAAAGTGGGGCCACCTCAAAGTGCAGATCTGTGGTTCCTGAAAAGAATGATGTCCTTCTGTCCTGATGCTGGAAGGTCTCAGCCCAGATAGCTAAGGTCCCAGCGTAGAGGATGGCAAGTGACAAATGAGTCCTCTACTGCCCGTTAGGGATTCAGATGGGTGTGTGTTCTTTTGGAATATAACCCAAATGATTTTCATTTTCTCCTAGTGAAAAATTGTGTGGTTCTTGTTTTTACAGAGCAAAAGGATCTTCAAATCAGATGCAAGGAAATGGAAAAATGTGTCAAGAGCACTTGAAATATTTATGTCAAGTAGCCCA... | benign | 83,419 |
The mutation in gene FRAS1 (Fraser extracellular matrix complex subunit 1) at chromosome 4, position 78540628—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Fraser_syndrome_1'] | TAGCAGAAGGGGAAGCAAATACATCCTTCTTCACATAGGGGCAGCAAGAAGTGCCGAGCAGAGGGGAAAAAGCCTCTTAAAAAACCATCAGAGGTCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTAGCTAACACAGTGAAACTCTGTCTTTACTAAAAATACAAAAAAATTAGCCTGGTGTGGTGGCAGGCTCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGTGGAGCCAGCAGTG... | TAGCAGAAGGGGAAGCAAATACATCCTTCTTCACATAGGGGCAGCAAGAAGTGCCGAGCAGAGGGGAAAAAGCCTCTTAAAAAACCATCAGAGGTCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTAGCTAACACAGTGAAACTCTGTCTTTACTAAAAATACAAAAAAATTAGCCTGGTGTGGTGGCAGGCTCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGTGGAGCCAGCAGTG... | pathogenic | 83,432 |
The chromosome 4, position 79984830 genetic variant in gene ANTXR2 (ANTXR cell adhesion molecule 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hyaline_fibromatosis_syndrome'] | AGGGAAAATGTCCATTGCTTCAAGATCTAATGTGGTCCAGAAAAGTAAGAATCACTGTCAGATGACCTATATAAACACTTTGCTAATGACAACCATGTTCAGTATGTCTGGGCTTTTTCTGAAGAAGAGTAAAATTTATTCTGAAAAGGGGAAACTCTCCTTGGGAATCTGAATTTTATTGTAATGTATAAAAGGAGAAAATTGCAATAATTGTGGGGTTGTTCATTAGGTTATCAATTTTTGCTGGCACAAAGCAGATATGACAATAGGAAACGTGCAACAATGGTAAAATGCATAAAACACATTCTAATCAGAAGGAA... | AGGGAAAATGTCCATTGCTTCAAGATCTAATGTGGTCCAGAAAAGTAAGAATCACTGTCAGATGACCTATATAAACACTTTGCTAATGACAACCATGTTCAGTATGTCTGGGCTTTTTCTGAAGAAGAGTAAAATTTATTCTGAAAAGGGGAAACTCTCCTTGGGAATCTGAATTTTATTGTAATGTATAAAAGGAGAAAATTGCAATAATTGTGGGGTTGTTCATTAGGTTATCAATTTTTGCTGGCACAAAGCAGATATGACAATAGGAAACGTGCAACAATGGTAAAATGCATAAAACACATTCTAATCAGAAGGAA... | pathogenic | 83,472 |
Does the genetic variant at chromosome 4, position 79984831, impacting gene ANTXR2 (ANTXR cell adhesion molecule 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hyaline_fibromatosis_syndrome'] | GGGAAAATGTCCATTGCTTCAAGATCTAATGTGGTCCAGAAAAGTAAGAATCACTGTCAGATGACCTATATAAACACTTTGCTAATGACAACCATGTTCAGTATGTCTGGGCTTTTTCTGAAGAAGAGTAAAATTTATTCTGAAAAGGGGAAACTCTCCTTGGGAATCTGAATTTTATTGTAATGTATAAAAGGAGAAAATTGCAATAATTGTGGGGTTGTTCATTAGGTTATCAATTTTTGCTGGCACAAAGCAGATATGACAATAGGAAACGTGCAACAATGGTAAAATGCATAAAACACATTCTAATCAGAAGGAAA... | GGGAAAATGTCCATTGCTTCAAGATCTAATGTGGTCCAGAAAAGTAAGAATCACTGTCAGATGACCTATATAAACACTTTGCTAATGACAACCATGTTCAGTATGTCTGGGCTTTTTCTGAAGAAGAGTAAAATTTATTCTGAAAAGGGGAAACTCTCCTTGGGAATCTGAATTTTATTGTAATGTATAAAAGGAGAAAATTGCAATAATTGTGGGGTTGTTCATTAGGTTATCAATTTTTGCTGGCACAAAGCAGATATGACAATAGGAAACGTGCAACAATGGTAAAATGCATAAAACACATTCTAATCAGAAGGAAA... | pathogenic | 83,473 |
Determine whether the variant at chromosome 4, position 80036041, in gene ANTXR2 (ANTXR cell adhesion molecule 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TTTTTAGTTCTTCGAAAAGTCGTATGTAGTACTTTCTTTAATCTATGCCTGTTCCATACAGAATTCTTCTTTAACCACTTCTTCACCTTACTAATCCTGATTCATTTTCTATTTCAAACCTATAAATAATCAAAAGATCACGTATTTTGAATTACTAATAATCGATGGCCAGTCACAAAAGTTGATTTAACTTATTGTACCATTATTTATAGTAGAAGCAAGCACTAAAACTTGTTAGAGAGTGAGAGAATAGGCTGGAATGAAAGTTAACTGATCAAATATCTTGACAGACAATGCATGTTTACTGCTAAGCTGCAAGA... | TTTTTAGTTCTTCGAAAAGTCGTATGTAGTACTTTCTTTAATCTATGCCTGTTCCATACAGAATTCTTCTTTAACCACTTCTTCACCTTACTAATCCTGATTCATTTTCTATTTCAAACCTATAAATAATCAAAAGATCACGTATTTTGAATTACTAATAATCGATGGCCAGTCACAAAAGTTGATTTAACTTATTGTACCATTATTTATAGTAGAAGCAAGCACTAAAACTTGTTAGAGAGTGAGAGAATAGGCTGGAATGAAAGTTAACTGATCAAATATCTTGACAGACAATGCATGTTTACTGCTAAGCTGCAAGA... | benign | 83,483 |
Chromosome 4, position 80072788, gene ANTXR2 (ANTXR cell adhesion molecule 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TCCAAGCCTGTTTTACAGAAAACATTTGGGCTAACAAGACTGAAAGAAGCAATATTTAATGATACAGTTCCTATTCATGTCCTTTCCATTATCTTGATAAACTTGTGTTTGCTCATTGCATTTTTTCTTTAAAAAAAAAAGAAGGAAAAAAAAAGCCTCAAAAGCCTAGTGTCCTGAGGTTATTTTTAAATAGGAGATGCCACTAATTCCTAGTTACCTCTAAATAAGAGAGTAAGCTGGATTTCATACCAGTAATGCTTTTTATAGGAGAGGAAACCAGTCTTTCCTGGTGATGCTTATTGCATATATAGAACAGTTAA... | TCCAAGCCTGTTTTACAGAAAACATTTGGGCTAACAAGACTGAAAGAAGCAATATTTAATGATACAGTTCCTATTCATGTCCTTTCCATTATCTTGATAAACTTGTGTTTGCTCATTGCATTTTTTCTTTAAAAAAAAAAGAAGGAAAAAAAAAGCCTCAAAAGCCTAGTGTCCTGAGGTTATTTTTAAATAGGAGATGCCACTAATTCCTAGTTACCTCTAAATAAGAGAGTAAGCTGGATTTCATACCAGTAATGCTTTTTATAGGAGAGGAAACCAGTCTTTCCTGGTGATGCTTATTGCATATATAGAACAGTTAA... | benign | 83,498 |
Is the genetic mutation found on chromosome 4 at position 83264267, within the gene COQ2 (coenzyme Q2, polyprenyltransferase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Coenzyme_Q10_deficiency', 'Coenzyme_Q10_deficiency,_primary,_1', 'Multiple_system_atrophy_1,_susceptibility_to'] | CTGATCTAGATGGATGACTGCTGTGTGTCTTTCCAACTCGAGTTGTCTTAAGTCTGTGATTCTAGAGACTAATAATCTACTTCATCGTTTTTTCTTTTCCAAAAATCTGTTCCTTACCCATTTATATTATTTTTTCAGCGTTTTCTACTGGGAGAAGGGAGGAAAAATGAAAAAGAACTAAAATAATTCAATTATGTTTAAGCAGCTTTTTGAGAATAAGCTTTTTGAGTATGTATGAATTAATGTTATGTTCTCTTGTCCCCTGTATCACAAAAAAGCTGCAGGATTTTTAGTGATTTTAAAATCTGTTCCATTTTTAA... | CTGATCTAGATGGATGACTGCTGTGTGTCTTTCCAACTCGAGTTGTCTTAAGTCTGTGATTCTAGAGACTAATAATCTACTTCATCGTTTTTTCTTTTCCAAAAATCTGTTCCTTACCCATTTATATTATTTTTTCAGCGTTTTCTACTGGGAGAAGGGAGGAAAAATGAAAAAGAACTAAAATAATTCAATTATGTTTAAGCAGCTTTTTGAGAATAAGCTTTTTGAGTATGTATGAATTAATGTTATGTTCTCTTGTCCCCTGTATCACAAAAAAGCTGCAGGATTTTTAGTGATTTTAAAATCTGTTCCATTTTTAA... | pathogenic | 83,550 |
Considering the variant on chromosome 4, location 83264347, involving gene COQ2 (coenzyme Q2, polyprenyltransferase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Coenzyme_Q10_deficiency,_primary,_1', 'Multiple_system_atrophy_1,_susceptibility_to'] | TTCATCGTTTTTTCTTTTCCAAAAATCTGTTCCTTACCCATTTATATTATTTTTTCAGCGTTTTCTACTGGGAGAAGGGAGGAAAAATGAAAAAGAACTAAAATAATTCAATTATGTTTAAGCAGCTTTTTGAGAATAAGCTTTTTGAGTATGTATGAATTAATGTTATGTTCTCTTGTCCCCTGTATCACAAAAAAGCTGCAGGATTTTTAGTGATTTTAAAATCTGTTCCATTTTTAACTTTCATAAACTAAGGAGAATGTTGTAAAATTGAAGTACATTGTACTCACCCTTCTTTAATTGGAACCAGTGCAATGGGT... | TTCATCGTTTTTTCTTTTCCAAAAATCTGTTCCTTACCCATTTATATTATTTTTTCAGCGTTTTCTACTGGGAGAAGGGAGGAAAAATGAAAAAGAACTAAAATAATTCAATTATGTTTAAGCAGCTTTTTGAGAATAAGCTTTTTGAGTATGTATGAATTAATGTTATGTTCTCTTGTCCCCTGTATCACAAAAAAGCTGCAGGATTTTTAGTGATTTTAAAATCTGTTCCATTTTTAACTTTCATAAACTAAGGAGAATGTTGTAAAATTGAAGTACATTGTACTCACCCTTCTTTAATTGGAACCAGTGCAATGGGT... | pathogenic | 83,553 |
The mutation impacting COQ2 (coenzyme Q2, polyprenyltransferase) on chromosome 4 at position 83272171: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Coenzyme_Q10_deficiency,_primary,_1', 'Multiple_system_atrophy_1,_susceptibility_to'] | TCCTTCCTTAAACCCTTTCAACTCTCGGTGGTACTTATTAGCTCCATTTTACAAAAAACAAAACAAGCTCAGAGAGGTTAATTAACAACTAAAGTAACAGAGCTAATAAAAAGAATAATATCCCCTAATTAAGTAAATAGGAGGTTTAAAGAGAAGATTTATCCCACCTAATATGGTGCACGGCACTACCAATAACAGAAGATGCTGGGATCTGAACTTACATCTCTCTGACTCAAAAACCCATGTTCTTTCTGTTACCACTCTGCCTCCCCTATCAGCTACTGAAACATGAATATACATACGAACACTGATCTATTCCA... | TCCTTCCTTAAACCCTTTCAACTCTCGGTGGTACTTATTAGCTCCATTTTACAAAAAACAAAACAAGCTCAGAGAGGTTAATTAACAACTAAAGTAACAGAGCTAATAAAAAGAATAATATCCCCTAATTAAGTAAATAGGAGGTTTAAAGAGAAGATTTATCCCACCTAATATGGTGCACGGCACTACCAATAACAGAAGATGCTGGGATCTGAACTTACATCTCTCTGACTCAAAAACCCATGTTCTTTCTGTTACCACTCTGCCTCCCCTATCAGCTACTGAAACATGAATATACATACGAACACTGATCTATTCCA... | pathogenic | 83,566 |
Mutation at chromosome 4, position 83463616, within ABRAXAS1 (abraxas 1, BRCA1 A complex subunit): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TGGTGCTGTCACAGAAGGACAAAATATTCCTAGACGAGTCTACCCTCAAACCAGTAGTGTCTTTTACATGAAGAGATGATTTACACCTAATAGACATTGAATATGATAGACATACATGTATATATGTATCAGTTCTGAGTTCCACTGGCCTATCCCAAATACACTGGATTACCAGGCTTGTACTGTATTCAAAATGATAGATTTGCTAAATTTCATGCAAAGGACTCTAAACTAGGGGAGAGATTACTGTTTGTGTTGTGTTATAGTTGTGTAATAATTAAGGCTGCCAGATTTAGCAAGTACAAATGTAGGACAAATTT... | TGGTGCTGTCACAGAAGGACAAAATATTCCTAGACGAGTCTACCCTCAAACCAGTAGTGTCTTTTACATGAAGAGATGATTTACACCTAATAGACATTGAATATGATAGACATACATGTATATATGTATCAGTTCTGAGTTCCACTGGCCTATCCCAAATACACTGGATTACCAGGCTTGTACTGTATTCAAAATGATAGATTTGCTAAATTTCATGCAAAGGACTCTAAACTAGGGGAGAGATTACTGTTTGTGTTGTGTTATAGTTGTGTAATAATTAAGGCTGCCAGATTTAGCAAGTACAAATGTAGGACAAATTT... | benign | 83,625 |
Chromosome 4, position 84696003, gene WDFY3 (WD repeat and FYVE domain containing 3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Neurodevelopmental_delay', 'likely other unspecified diseases'] | GAGACAGGCATAGAGTAGTTTCTGTTGGAAAACTAGTATTTGAGGAGGAGATCTGAAAAACTTTAAATGAAATGAGATTTAAGATAAATACGACACCATCACACTTTGTAAATTAGATATTTGGGGTTTCCAAGGGAAAAAAACAGAAAAAATTCTTTGTGCAGAGGAAGATACACATTCCAGACTCTCAAATCTTTAAATGTTTTATTCCTATTTTATCTACATAAAGGACTATAAGATCAGGCTTCTATAAAGATACATAGTTTTAAAGCACTTTCATGAATGTGCATTTACTGAAGCACTTTTACGTGAGGACCTAA... | GAGACAGGCATAGAGTAGTTTCTGTTGGAAAACTAGTATTTGAGGAGGAGATCTGAAAAACTTTAAATGAAATGAGATTTAAGATAAATACGACACCATCACACTTTGTAAATTAGATATTTGGGGTTTCCAAGGGAAAAAAACAGAAAAAATTCTTTGTGCAGAGGAAGATACACATTCCAGACTCTCAAATCTTTAAATGTTTTATTCCTATTTTATCTACATAAAGGACTATAAGATCAGGCTTCTATAAAGATACATAGTTTTAAAGCACTTTCATGAATGTGCATTTACTGAAGCACTTTTACGTGAGGACCTAA... | pathogenic | 83,696 |
Evaluate the clinical significance of the mutation at chromosome 4, position 84794502 in gene WDFY3 (WD repeat and FYVE domain containing 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | CAAACATTTGTGAGAGTTTCACTTTCTGACTTAGGTTTGAACTAAGACATTTCCAGCACTGAGTGGTGTGTCAGGATATCTCAGTGAGCCAACTGGTTTATGACAACTCCTAATCTCCTAGGCATCTTAATGGGTTACAGCTGTTCGGAGAATGAATCCTGGCAATACTAATGCATATGTTACCGTCATTTCTAATCATATATGGACTATAGCAGCCTGGCAAATTACATTTAGTAATAAAAATGAGATAAGAGTTAGAAAATATTTTCCTAGTTTACAGATTTATCTCCAGATCCACTCCTTAACTTTCCCATTAAATT... | CAAACATTTGTGAGAGTTTCACTTTCTGACTTAGGTTTGAACTAAGACATTTCCAGCACTGAGTGGTGTGTCAGGATATCTCAGTGAGCCAACTGGTTTATGACAACTCCTAATCTCCTAGGCATCTTAATGGGTTACAGCTGTTCGGAGAATGAATCCTGGCAATACTAATGCATATGTTACCGTCATTTCTAATCATATATGGACTATAGCAGCCTGGCAAATTACATTTAGTAATAAAAATGAGATAAGAGTTAGAAAATATTTTCCTAGTTTACAGATTTATCTCCAGATCCACTCCTTAACTTTCCCATTAAATT... | benign | 83,722 |
For chromosome 4, position 85942053, gene ARHGAP24 (Rho GTPase activating protein 24): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GTCAGGATAGAGTTCAAACAGTAGAGGCAAATAAGCATCACGTTTGTTTTCAAAGCTCTCCACAGAAAGGGTCAATATTCTCCAACCTAACCAGTTTGTAAACCTTATTATTAAAACACTAGAATATCTCCAAAAGTTGTTACTACCATTGAATGGATTAGAATTTTGTTTTGCTGAAGGAACAGAAAACTGGCTTAAACACACATCAGCTTGTTTTTCTCACATTAAAAGCTATCTGGACAAAGGTGCTGCCAGTTTTGGATCAGTAGTTCAATAATTTTCAGCCTCAGCATGTCTGTTAATCTTTTAGCCTTTCCCTT... | GTCAGGATAGAGTTCAAACAGTAGAGGCAAATAAGCATCACGTTTGTTTTCAAAGCTCTCCACAGAAAGGGTCAATATTCTCCAACCTAACCAGTTTGTAAACCTTATTATTAAAACACTAGAATATCTCCAAAAGTTGTTACTACCATTGAATGGATTAGAATTTTGTTTTGCTGAAGGAACAGAAAACTGGCTTAAACACACATCAGCTTGTTTTTCTCACATTAAAAGCTATCTGGACAAAGGTGCTGCCAGTTTTGGATCAGTAGTTCAATAATTTTCAGCCTCAGCATGTCTGTTAATCTTTTAGCCTTTCCCTT... | benign | 83,747 |
A mutation at chromosome position 87615164 on chromosome 4 in gene DSPP (dentin sialophosphoprotein): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | AGAAGATCCCCATAATGAAGTTGATGGAGACAAGACCTCCAAGAGTGAGGAGAATTCTGCTGGTATTCCAGAAGACAATGGCAGCCAAAGAATAGAGGACACCCAGAAGCTCAACCATAGAGAAAGCAAACGCGTAGAAAATAGAATCACCAAAGAATCAGAGACACATGCTGTTGGGAAGAGCCAAGATAAGGTTAGTTTGTAAAGCTGATTTCTTTCAATGGCAGTTTAAATTCTTCCCCTCCATCTATTGATGCTAGCACAAAAATAAACCATGACAAGCATCCATGTATTTTTGTATCCATATTACTTGACTATTT... | AGAAGATCCCCATAATGAAGTTGATGGAGACAAGACCTCCAAGAGTGAGGAGAATTCTGCTGGTATTCCAGAAGACAATGGCAGCCAAAGAATAGAGGACACCCAGAAGCTCAACCATAGAGAAAGCAAACGCGTAGAAAATAGAATCACCAAAGAATCAGAGACACATGCTGTTGGGAAGAGCCAAGATAAGGTTAGTTTGTAAAGCTGATTTCTTTCAATGGCAGTTTAAATTCTTCCCCTCCATCTATTGATGCTAGCACAAAAATAAACCATGACAAGCATCCATGTATTTTTGTATCCATATTACTTGACTATTT... | benign | 83,813 |
Located at chromosome 4 position 87615186, the variant affecting gene DSPP (dentin sialophosphoprotein)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['DSPP-related_disorder', 'Deafness,_autosomal_dominant_39,_with_dentinogenesis_imperfecta_1', 'Denticles', 'Dentinogenesis_imperfecta_type_2', 'Dentinogenesis_imperfecta_type_3'] | GATGGAGACAAGACCTCCAAGAGTGAGGAGAATTCTGCTGGTATTCCAGAAGACAATGGCAGCCAAAGAATAGAGGACACCCAGAAGCTCAACCATAGAGAAAGCAAACGCGTAGAAAATAGAATCACCAAAGAATCAGAGACACATGCTGTTGGGAAGAGCCAAGATAAGGTTAGTTTGTAAAGCTGATTTCTTTCAATGGCAGTTTAAATTCTTCCCCTCCATCTATTGATGCTAGCACAAAAATAAACCATGACAAGCATCCATGTATTTTTGTATCCATATTACTTGACTATTTAAGGAAATCTAGAGTCCTTACT... | GATGGAGACAAGACCTCCAAGAGTGAGGAGAATTCTGCTGGTATTCCAGAAGACAATGGCAGCCAAAGAATAGAGGACACCCAGAAGCTCAACCATAGAGAAAGCAAACGCGTAGAAAATAGAATCACCAAAGAATCAGAGACACATGCTGTTGGGAAGAGCCAAGATAAGGTTAGTTTGTAAAGCTGATTTCTTTCAATGGCAGTTTAAATTCTTCCCCTCCATCTATTGATGCTAGCACAAAAATAAACCATGACAAGCATCCATGTATTTTTGTATCCATATTACTTGACTATTTAAGGAAATCTAGAGTCCTTACT... | pathogenic | 83,814 |
Chromosome 4, position 87615390, gene DSPP (dentin sialophosphoprotein): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GTTTAAATTCTTCCCCTCCATCTATTGATGCTAGCACAAAAATAAACCATGACAAGCATCCATGTATTTTTGTATCCATATTACTTGACTATTTAAGGAAATCTAGAGTCCTTACTAGACTTCGAGATAGAACAACTTTAAACATCTTACATTTCTGATAACTTAGTTATAATTCTAGAAAAGTCTTATGTGAAATCATGGATCCCCATGTAATTGTTTACAAAAGTTCCTACTGGGTAGGAATGTGGATGAATTTTTAAGGAATCTAAGCACCAGGATGCTTTCAATTACAGAATAAAGCACATTTTCACAAATAACTG... | GTTTAAATTCTTCCCCTCCATCTATTGATGCTAGCACAAAAATAAACCATGACAAGCATCCATGTATTTTTGTATCCATATTACTTGACTATTTAAGGAAATCTAGAGTCCTTACTAGACTTCGAGATAGAACAACTTTAAACATCTTACATTTCTGATAACTTAGTTATAATTCTAGAAAAGTCTTATGTGAAATCATGGATCCCCATGTAATTGTTTACAAAAGTTCCTACTGGGTAGGAATGTGGATGAATTTTTAAGGAATCTAAGCACCAGGATGCTTTCAATTACAGAATAAAGCACATTTTCACAAATAACTG... | benign | 83,819 |
Clinical impact (benign or pathogenic) of the variant at chromosome 4, location 87615749, gene DSPP (dentin sialophosphoprotein): what disease(s) if pathogenic? | benign | TTTCCCAGTTATTCTTCCTCAGATCAATGCAATTTTGCAGCAAATATTCACTAGTTAATCATTCTTTCCTCCATCCTTCCATAGGGAATAGAAATCAAGGGTCCCAGCAGTGGCAACAGAAATATTACCAAAGAAGTTGGGAAAGGCAACGAAGGTAAAGAGGATAAAGGACAACATGGAATGATCTTGGGCAAAGGCAATGTCAAGACACAAGGAGAGGTTGTCAACATAGAAGGACCTGGCCAAAAATCAGAACCAGGAAATAAAGTTGGACACAGCAATACAGGTAGTGACAGCAATAGTGATGGATATGACAGTTA... | TTTCCCAGTTATTCTTCCTCAGATCAATGCAATTTTGCAGCAAATATTCACTAGTTAATCATTCTTTCCTCCATCCTTCCATAGGGAATAGAAATCAAGGGTCCCAGCAGTGGCAACAGAAATATTACCAAAGAAGTTGGGAAAGGCAACGAAGGTAAAGAGGATAAAGGACAACATGGAATGATCTTGGGCAAAGGCAATGTCAAGACACAAGGAGAGGTTGTCAACATAGAAGGACCTGGCCAAAAATCAGAACCAGGAAATAAAGTTGGACACAGCAATACAGGTAGTGACAGCAATAGTGATGGATATGACAGTTA... | benign | 83,825 |
A genetic variant at chromosome 4, position 87616145, affecting gene DSPP (dentin sialophosphoprotein)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TCAGAAAGTGACAATAACAGCAGTAGCCGAGGAGATGCTTCTTATAACTCTGATGAATCAAAAGATAATGGCAATGGCAGTGACTCAAAAGGAGCAGAAGATGATGACAGTGATAGCACATCAGACACTAATAATAGTGACAGTAATGGCAATGGTAACAATGGGAATGATGACAATGACAAATCAGACAGTGGCAAAGGTAAATCAGATAGCAGTGACAGTGATAGTAGTGATAGCAGCAATAGCAGTGATAGTAGTGACAGCAGTGACAGTGACAGCAGTGATAGCAACAGTAGCAGTGATAGTGACAGCAGTGACAG... | TCAGAAAGTGACAATAACAGCAGTAGCCGAGGAGATGCTTCTTATAACTCTGATGAATCAAAAGATAATGGCAATGGCAGTGACTCAAAAGGAGCAGAAGATGATGACAGTGATAGCACATCAGACACTAATAATAGTGACAGTAATGGCAATGGTAACAATGGGAATGATGACAATGACAAATCAGACAGTGGCAAAGGTAAATCAGATAGCAGTGACAGTGATAGTAGTGATAGCAGCAATAGCAGTGATAGTAGTGACAGCAGTGACAGTGACAGCAGTGATAGCAACAGTAGCAGTGATAGTGACAGCAGTGACAG... | benign | 83,853 |
Clinical impact (benign or pathogenic) of the variant at chromosome 4, location 88007800, gene PKD2: what disease(s) if pathogenic? | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Polycystic_kidney_disease_2'] | TATATGTGCCTAGAGAACAAATGAATAATTCATTAAGGTGGATGGATGGCATGGGATGCCATGCTAGAGGAGTACATTAAGAGCTGTTAAAGCTAAATTGTGTCCCCCCAAAAATTTCTGTGTTGAAGTCCTAACCCCCATTACCTCAGAACATGACCATACTTGGAGACAGGGTCTTTACAGAAGTAATGAAGTGAAAACAAGGTCATGAGGGTAGGCCCTAATCCAATATGATGTATAAGAATAGACAATTAGGACACAGACGCATACAGAGGGAAGAGGGAAGACGGCGTGAGGACACAAAAGCGGGGCCATCTGCA... | TATATGTGCCTAGAGAACAAATGAATAATTCATTAAGGTGGATGGATGGCATGGGATGCCATGCTAGAGGAGTACATTAAGAGCTGTTAAAGCTAAATTGTGTCCCCCCAAAAATTTCTGTGTTGAAGTCCTAACCCCCATTACCTCAGAACATGACCATACTTGGAGACAGGGTCTTTACAGAAGTAATGAAGTGAAAACAAGGTCATGAGGGTAGGCCCTAATCCAATATGATGTATAAGAATAGACAATTAGGACACAGACGCATACAGAGGGAAGAGGGAAGACGGCGTGAGGACACAAAAGCGGGGCCATCTGCA... | pathogenic | 83,912 |
Variant chromosome 4, position 88007840, gene PKD2: benign or pathogenic? Disease(s)? | pathogenic; ['Polycystic_kidney_disease_2'] | GATGGATGGCATGGGATGCCATGCTAGAGGAGTACATTAAGAGCTGTTAAAGCTAAATTGTGTCCCCCCAAAAATTTCTGTGTTGAAGTCCTAACCCCCATTACCTCAGAACATGACCATACTTGGAGACAGGGTCTTTACAGAAGTAATGAAGTGAAAACAAGGTCATGAGGGTAGGCCCTAATCCAATATGATGTATAAGAATAGACAATTAGGACACAGACGCATACAGAGGGAAGAGGGAAGACGGCGTGAGGACACAAAAGCGGGGCCATCTGCAAGCCAAGGAGAGAGGCCTCAGAAGAAACCAACTCTGCCAA... | GATGGATGGCATGGGATGCCATGCTAGAGGAGTACATTAAGAGCTGTTAAAGCTAAATTGTGTCCCCCCAAAAATTTCTGTGTTGAAGTCCTAACCCCCATTACCTCAGAACATGACCATACTTGGAGACAGGGTCTTTACAGAAGTAATGAAGTGAAAACAAGGTCATGAGGGTAGGCCCTAATCCAATATGATGTATAAGAATAGACAATTAGGACACAGACGCATACAGAGGGAAGAGGGAAGACGGCGTGAGGACACAAAAGCGGGGCCATCTGCAAGCCAAGGAGAGAGGCCTCAGAAGAAACCAACTCTGCCAA... | pathogenic | 83,914 |
Gene PKD2 variant at chromosome 4, position 88007881—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Polycystic_kidney_disease'] | AGCTGTTAAAGCTAAATTGTGTCCCCCCAAAAATTTCTGTGTTGAAGTCCTAACCCCCATTACCTCAGAACATGACCATACTTGGAGACAGGGTCTTTACAGAAGTAATGAAGTGAAAACAAGGTCATGAGGGTAGGCCCTAATCCAATATGATGTATAAGAATAGACAATTAGGACACAGACGCATACAGAGGGAAGAGGGAAGACGGCGTGAGGACACAAAAGCGGGGCCATCTGCAAGCCAAGGAGAGAGGCCTCAGAAGAAACCAACTCTGCCAACACCTCGTGAGAAAATACAATTTTTCTTTTCTTTTTCCTTC... | AGCTGTTAAAGCTAAATTGTGTCCCCCCAAAAATTTCTGTGTTGAAGTCCTAACCCCCATTACCTCAGAACATGACCATACTTGGAGACAGGGTCTTTACAGAAGTAATGAAGTGAAAACAAGGTCATGAGGGTAGGCCCTAATCCAATATGATGTATAAGAATAGACAATTAGGACACAGACGCATACAGAGGGAAGAGGGAAGACGGCGTGAGGACACAAAAGCGGGGCCATCTGCAAGCCAAGGAGAGAGGCCTCAGAAGAAACCAACTCTGCCAACACCTCGTGAGAAAATACAATTTTTCTTTTCTTTTTCCTTC... | pathogenic | 83,916 |
The chromosome 4, position 88007928 genetic variant in gene PKD2: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Polycystic_kidney_disease_2'] | TCCTAACCCCCATTACCTCAGAACATGACCATACTTGGAGACAGGGTCTTTACAGAAGTAATGAAGTGAAAACAAGGTCATGAGGGTAGGCCCTAATCCAATATGATGTATAAGAATAGACAATTAGGACACAGACGCATACAGAGGGAAGAGGGAAGACGGCGTGAGGACACAAAAGCGGGGCCATCTGCAAGCCAAGGAGAGAGGCCTCAGAAGAAACCAACTCTGCCAACACCTCGTGAGAAAATACAATTTTTCTTTTCTTTTTCCTTCCTTCCTTCTTTTTTTCTTTCTTCTCTCTCTCTCTTTCTTTCTTTATG... | TCCTAACCCCCATTACCTCAGAACATGACCATACTTGGAGACAGGGTCTTTACAGAAGTAATGAAGTGAAAACAAGGTCATGAGGGTAGGCCCTAATCCAATATGATGTATAAGAATAGACAATTAGGACACAGACGCATACAGAGGGAAGAGGGAAGACGGCGTGAGGACACAAAAGCGGGGCCATCTGCAAGCCAAGGAGAGAGGCCTCAGAAGAAACCAACTCTGCCAACACCTCGTGAGAAAATACAATTTTTCTTTTCTTTTTCCTTCCTTCCTTCTTTTTTTCTTTCTTCTCTCTCTCTCTTTCTTTCTTTATG... | pathogenic | 83,918 |
Considering the genetic mutation at chromosome 4, position 88007930, impacting PKD2: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Inborn_genetic_diseases', 'PKD2-related_disorder', 'Polycystic_kidney_disease_2'] | CTAACCCCCATTACCTCAGAACATGACCATACTTGGAGACAGGGTCTTTACAGAAGTAATGAAGTGAAAACAAGGTCATGAGGGTAGGCCCTAATCCAATATGATGTATAAGAATAGACAATTAGGACACAGACGCATACAGAGGGAAGAGGGAAGACGGCGTGAGGACACAAAAGCGGGGCCATCTGCAAGCCAAGGAGAGAGGCCTCAGAAGAAACCAACTCTGCCAACACCTCGTGAGAAAATACAATTTTTCTTTTCTTTTTCCTTCCTTCCTTCTTTTTTTCTTTCTTCTCTCTCTCTCTTTCTTTCTTTATGAG... | CTAACCCCCATTACCTCAGAACATGACCATACTTGGAGACAGGGTCTTTACAGAAGTAATGAAGTGAAAACAAGGTCATGAGGGTAGGCCCTAATCCAATATGATGTATAAGAATAGACAATTAGGACACAGACGCATACAGAGGGAAGAGGGAAGACGGCGTGAGGACACAAAAGCGGGGCCATCTGCAAGCCAAGGAGAGAGGCCTCAGAAGAAACCAACTCTGCCAACACCTCGTGAGAAAATACAATTTTTCTTTTCTTTTTCCTTCCTTCCTTCTTTTTTTCTTTCTTCTCTCTCTCTCTTTCTTTCTTTATGAG... | pathogenic | 83,919 |
Is the variant located on chromosome 4 at position 88008021, gene PKD2, benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TAATCCAATATGATGTATAAGAATAGACAATTAGGACACAGACGCATACAGAGGGAAGAGGGAAGACGGCGTGAGGACACAAAAGCGGGGCCATCTGCAAGCCAAGGAGAGAGGCCTCAGAAGAAACCAACTCTGCCAACACCTCGTGAGAAAATACAATTTTTCTTTTCTTTTTCCTTCCTTCCTTCTTTTTTTCTTTCTTCTCTCTCTCTCTTTCTTTCTTTATGAGACAGAGTCTCACTCTGTCACTTGGAGTGCAGTGGCCCGATCTTGGCTCACTACATCCTCTGCCTCCCGGGCTCAAGCGATCCTCCCACCTC... | TAATCCAATATGATGTATAAGAATAGACAATTAGGACACAGACGCATACAGAGGGAAGAGGGAAGACGGCGTGAGGACACAAAAGCGGGGCCATCTGCAAGCCAAGGAGAGAGGCCTCAGAAGAAACCAACTCTGCCAACACCTCGTGAGAAAATACAATTTTTCTTTTCTTTTTCCTTCCTTCCTTCTTTTTTTCTTTCTTCTCTCTCTCTCTTTCTTTCTTTATGAGACAGAGTCTCACTCTGTCACTTGGAGTGCAGTGGCCCGATCTTGGCTCACTACATCCTCTGCCTCCCGGGCTCAAGCGATCCTCCCACCTC... | benign | 83,921 |
Variant in gene PKD2, located at chromosome 4 position 88008205: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Polycystic_kidney_disease_2'] | CTTCTTTTTTTCTTTCTTCTCTCTCTCTCTTTCTTTCTTTATGAGACAGAGTCTCACTCTGTCACTTGGAGTGCAGTGGCCCGATCTTGGCTCACTACATCCTCTGCCTCCCGGGCTCAAGCGATCCTCCCACCTCAGCGTCCCTAATAGCTGGGACCAAAGGCACACACCGCAAAGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAAGGTGAGCAAATAAATTTCTGTTAAGCCACCCAGTCTCTGGTACTTTGTTATGGCAGCCCTAACAAACAAATACAGGAGCAGATTATGAGAATTTACTAAACCAAACCACA... | CTTCTTTTTTTCTTTCTTCTCTCTCTCTCTTTCTTTCTTTATGAGACAGAGTCTCACTCTGTCACTTGGAGTGCAGTGGCCCGATCTTGGCTCACTACATCCTCTGCCTCCCGGGCTCAAGCGATCCTCCCACCTCAGCGTCCCTAATAGCTGGGACCAAAGGCACACACCGCAAAGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAAGGTGAGCAAATAAATTTCTGTTAAGCCACCCAGTCTCTGGTACTTTGTTATGGCAGCCCTAACAAACAAATACAGGAGCAGATTATGAGAATTTACTAAACCAAACCACA... | pathogenic | 83,927 |
A genetic variant at chromosome 4, position 88008209, affecting gene PKD2—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Polycystic_kidney_disease_2', 'likely other unspecified diseases'] | TTTTTTTCTTTCTTCTCTCTCTCTCTTTCTTTCTTTATGAGACAGAGTCTCACTCTGTCACTTGGAGTGCAGTGGCCCGATCTTGGCTCACTACATCCTCTGCCTCCCGGGCTCAAGCGATCCTCCCACCTCAGCGTCCCTAATAGCTGGGACCAAAGGCACACACCGCAAAGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAAGGTGAGCAAATAAATTTCTGTTAAGCCACCCAGTCTCTGGTACTTTGTTATGGCAGCCCTAACAAACAAATACAGGAGCAGATTATGAGAATTTACTAAACCAAACCACAGAAA... | TTTTTTTCTTTCTTCTCTCTCTCTCTTTCTTTCTTTATGAGACAGAGTCTCACTCTGTCACTTGGAGTGCAGTGGCCCGATCTTGGCTCACTACATCCTCTGCCTCCCGGGCTCAAGCGATCCTCCCACCTCAGCGTCCCTAATAGCTGGGACCAAAGGCACACACCGCAAAGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAAGGTGAGCAAATAAATTTCTGTTAAGCCACCCAGTCTCTGGTACTTTGTTATGGCAGCCCTAACAAACAAATACAGGAGCAGATTATGAGAATTTACTAAACCAAACCACAGAAA... | pathogenic | 83,928 |
Variant at chromosome position 88008243, chromosome 4, gene PKD2: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Polycystic_kidney_disease_2'] | TTATGAGACAGAGTCTCACTCTGTCACTTGGAGTGCAGTGGCCCGATCTTGGCTCACTACATCCTCTGCCTCCCGGGCTCAAGCGATCCTCCCACCTCAGCGTCCCTAATAGCTGGGACCAAAGGCACACACCGCAAAGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAAGGTGAGCAAATAAATTTCTGTTAAGCCACCCAGTCTCTGGTACTTTGTTATGGCAGCCCTAACAAACAAATACAGGAGCAGATTATGAGAATTTACTAAACCAAACCACAGAAATTAAATTTTATCCTTTCAGCTGCCAGAAGCCCAC... | TTATGAGACAGAGTCTCACTCTGTCACTTGGAGTGCAGTGGCCCGATCTTGGCTCACTACATCCTCTGCCTCCCGGGCTCAAGCGATCCTCCCACCTCAGCGTCCCTAATAGCTGGGACCAAAGGCACACACCGCAAAGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAAGGTGAGCAAATAAATTTCTGTTAAGCCACCCAGTCTCTGGTACTTTGTTATGGCAGCCCTAACAAACAAATACAGGAGCAGATTATGAGAATTTACTAAACCAAACCACAGAAATTAAATTTTATCCTTTCAGCTGCCAGAAGCCCAC... | pathogenic | 83,930 |
Variant at chromosome 4, position 88008266, gene PKD2: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Inborn_genetic_diseases', 'Polycystic_kidney_disease_2'] | TCACTTGGAGTGCAGTGGCCCGATCTTGGCTCACTACATCCTCTGCCTCCCGGGCTCAAGCGATCCTCCCACCTCAGCGTCCCTAATAGCTGGGACCAAAGGCACACACCGCAAAGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAAGGTGAGCAAATAAATTTCTGTTAAGCCACCCAGTCTCTGGTACTTTGTTATGGCAGCCCTAACAAACAAATACAGGAGCAGATTATGAGAATTTACTAAACCAAACCACAGAAATTAAATTTTATCCTTTCAGCTGCCAGAAGCCCACAGAGGTGTCTAAGCATCAACGTG... | TCACTTGGAGTGCAGTGGCCCGATCTTGGCTCACTACATCCTCTGCCTCCCGGGCTCAAGCGATCCTCCCACCTCAGCGTCCCTAATAGCTGGGACCAAAGGCACACACCGCAAAGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAAGGTGAGCAAATAAATTTCTGTTAAGCCACCCAGTCTCTGGTACTTTGTTATGGCAGCCCTAACAAACAAATACAGGAGCAGATTATGAGAATTTACTAAACCAAACCACAGAAATTAAATTTTATCCTTTCAGCTGCCAGAAGCCCACAGAGGTGTCTAAGCATCAACGTG... | pathogenic | 83,931 |
Clinical classification of chromosome 4, position 88019547, gene PKD2 (polycystin 2, transient receptor potential cation channel): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Polycystic_kidney_disease_2'] | TCCCGGGTTCAACCGATTCTTCTGCCTCAGCCTCCCATGTAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAAGTGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACTGCACCCAGCCTAGCTTGAAGAAAATTTGATAGGAGTTTGTTTTTTTCTATTTATAGGCCAAGCAATACCACGTATAAATATTAAGAATCATGGCTGTTCCTTAGTGCCTAGTTGTTTAT... | TCCCGGGTTCAACCGATTCTTCTGCCTCAGCCTCCCATGTAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAAGTGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACTGCACCCAGCCTAGCTTGAAGAAAATTTGATAGGAGTTTGTTTTTTTCTATTTATAGGCCAAGCAATACCACGTATAAATATTAAGAATCATGGCTGTTCCTTAGTGCCTAGTTGTTTAT... | pathogenic | 83,942 |
Chromosome 4, position 88019555, gene PKD2 (polycystin 2, transient receptor potential cation channel): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Polycystic_kidney_disease_2'] | TCAACCGATTCTTCTGCCTCAGCCTCCCATGTAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAAGTGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACTGCACCCAGCCTAGCTTGAAGAAAATTTGATAGGAGTTTGTTTTTTTCTATTTATAGGCCAAGCAATACCACGTATAAATATTAAGAATCATGGCTGTTCCTTAGTGCCTAGTTGTTTATAAACCATG... | TCAACCGATTCTTCTGCCTCAGCCTCCCATGTAGCTGGGATTACAGGCGCCCGCCACCACACCTGGCTAAGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAAGTGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACTGCACCCAGCCTAGCTTGAAGAAAATTTGATAGGAGTTTGTTTTTTTCTATTTATAGGCCAAGCAATACCACGTATAAATATTAAGAATCATGGCTGTTCCTTAGTGCCTAGTTGTTTATAAACCATG... | pathogenic | 83,943 |
For chromosome 4, position 88036288, gene PKD2 (polycystin 2, transient receptor potential cation channel): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Polycystic_kidney_disease_2'] | AGTATACAAGTTGTGTGTATTATGTGTATTTACTCTGTAATTGATTGCTTGAGATGAACCCCCAAACACACTCGTGTTTGGATCATTATTATCTACCCTTCTCCTTAAATAATCTTAATTTCCTATGATGCTTGAAAGGGAAAGAGGGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGCATCACCTGAGGTCTGGAGTTCAAGACCAACCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATAAAAAATCAGCTGGGCATGGTAGCACATGCCTGTAATCCCAGCTACT... | AGTATACAAGTTGTGTGTATTATGTGTATTTACTCTGTAATTGATTGCTTGAGATGAACCCCCAAACACACTCGTGTTTGGATCATTATTATCTACCCTTCTCCTTAAATAATCTTAATTTCCTATGATGCTTGAAAGGGAAAGAGGGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGCATCACCTGAGGTCTGGAGTTCAAGACCAACCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATAAAAAATCAGCTGGGCATGGTAGCACATGCCTGTAATCCCAGCTACT... | pathogenic | 83,949 |
Does the variant on chromosome 4 at location 88036324 affecting gene PKD2 (polycystin 2, transient receptor potential cation channel) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Elevated_diastolic_blood_pressure', 'Elevated_systolic_blood_pressure', 'Polycystic_kidney_disease', 'Polycystic_kidney_disease_2'] | GTAATTGATTGCTTGAGATGAACCCCCAAACACACTCGTGTTTGGATCATTATTATCTACCCTTCTCCTTAAATAATCTTAATTTCCTATGATGCTTGAAAGGGAAAGAGGGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGCATCACCTGAGGTCTGGAGTTCAAGACCAACCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATAAAAAATCAGCTGGGCATGGTAGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGTGGGAGAATCGCTTGAACCTGGG... | GTAATTGATTGCTTGAGATGAACCCCCAAACACACTCGTGTTTGGATCATTATTATCTACCCTTCTCCTTAAATAATCTTAATTTCCTATGATGCTTGAAAGGGAAAGAGGGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGCATCACCTGAGGTCTGGAGTTCAAGACCAACCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATAAAAAATCAGCTGGGCATGGTAGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGTGGGAGAATCGCTTGAACCTGGG... | pathogenic | 83,951 |
Evaluate if the mutation on chromosome 4 at position 88038355 in PKD2 (polycystin 2, transient receptor potential cation channel) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Polycystic_kidney_disease_2'] | AGAAAACTAACTTTAAAACTCTGTCTTCCATGGAAGACTTCTGGAAGGTATTTGCAAATAACTTTGAAAGTACCTCTCTATCACAGAAAATTGTTCATTTGGCTTCATCATTTCAATGCATGAGTATCGACAGGACCTGCTTTGCATTTAACACTGTGTGAGACGTAAGTTATGGTGAGTTGTTAGAAGTTACTGTTCCTACTCTCAAAGGGGGTAAACTAACATTGAGAACTTTGCCTGTGCCTTGCACTGTGCTGAGTGTTTCATATCTTACCTTATTTAATTTCTATAGTCTAACTCTATAAGGTAAGTACTAAGAC... | AGAAAACTAACTTTAAAACTCTGTCTTCCATGGAAGACTTCTGGAAGGTATTTGCAAATAACTTTGAAAGTACCTCTCTATCACAGAAAATTGTTCATTTGGCTTCATCATTTCAATGCATGAGTATCGACAGGACCTGCTTTGCATTTAACACTGTGTGAGACGTAAGTTATGGTGAGTTGTTAGAAGTTACTGTTCCTACTCTCAAAGGGGGTAAACTAACATTGAGAACTTTGCCTGTGCCTTGCACTGTGCTGAGTGTTTCATATCTTACCTTATTTAATTTCTATAGTCTAACTCTATAAGGTAAGTACTAAGAC... | pathogenic | 83,959 |
Benign or pathogenic: chromosome 4, position 88038453, gene PKD2 (polycystin 2, transient receptor potential cation channel) variant? Disease(s) if pathogenic? | pathogenic; ['Polycystic_kidney_disease_2'] | TTGGCTTCATCATTTCAATGCATGAGTATCGACAGGACCTGCTTTGCATTTAACACTGTGTGAGACGTAAGTTATGGTGAGTTGTTAGAAGTTACTGTTCCTACTCTCAAAGGGGGTAAACTAACATTGAGAACTTTGCCTGTGCCTTGCACTGTGCTGAGTGTTTCATATCTTACCTTATTTAATTTCTATAGTCTAACTCTATAAGGTAAGTACTAAGACTATGCCCTAGTTTGTTAATGAGGAAAATGAGATTCAGGATGTTTAAATGCGTATGGTCACATGGCTAGGGAACAAGAAAAATTGATTTTTTTCTAGCC... | TTGGCTTCATCATTTCAATGCATGAGTATCGACAGGACCTGCTTTGCATTTAACACTGTGTGAGACGTAAGTTATGGTGAGTTGTTAGAAGTTACTGTTCCTACTCTCAAAGGGGGTAAACTAACATTGAGAACTTTGCCTGTGCCTTGCACTGTGCTGAGTGTTTCATATCTTACCTTATTTAATTTCTATAGTCTAACTCTATAAGGTAAGTACTAAGACTATGCCCTAGTTTGTTAATGAGGAAAATGAGATTCAGGATGTTTAAATGCGTATGGTCACATGGCTAGGGAACAAGAAAAATTGATTTTTTTCTAGCC... | pathogenic | 83,967 |
Gene PKD2 (polycystin 2, transient receptor potential cation channel) variant at chromosome position 88038501 on chromosome 4: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Inborn_genetic_diseases', 'PKD2-related_disorder', 'Polycystic_kidney_disease', 'Polycystic_kidney_disease_2'] | TTTAACACTGTGTGAGACGTAAGTTATGGTGAGTTGTTAGAAGTTACTGTTCCTACTCTCAAAGGGGGTAAACTAACATTGAGAACTTTGCCTGTGCCTTGCACTGTGCTGAGTGTTTCATATCTTACCTTATTTAATTTCTATAGTCTAACTCTATAAGGTAAGTACTAAGACTATGCCCTAGTTTGTTAATGAGGAAAATGAGATTCAGGATGTTTAAATGCGTATGGTCACATGGCTAGGGAACAAGAAAAATTGATTTTTTTCTAGCCTGACAGCTACTTCATCCTAGTTTGTAATTCATTCCATGAGTCAAGATT... | TTTAACACTGTGTGAGACGTAAGTTATGGTGAGTTGTTAGAAGTTACTGTTCCTACTCTCAAAGGGGGTAAACTAACATTGAGAACTTTGCCTGTGCCTTGCACTGTGCTGAGTGTTTCATATCTTACCTTATTTAATTTCTATAGTCTAACTCTATAAGGTAAGTACTAAGACTATGCCCTAGTTTGTTAATGAGGAAAATGAGATTCAGGATGTTTAAATGCGTATGGTCACATGGCTAGGGAACAAGAAAAATTGATTTTTTTCTAGCCTGACAGCTACTTCATCCTAGTTTGTAATTCATTCCATGAGTCAAGATT... | pathogenic | 83,972 |
Determine whether the variant at chromosome 4, position 88043264, in gene PKD2 (polycystin 2, transient receptor potential cation channel) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Polycystic_kidney_disease_2'] | CTTGCCCCAACTTCCAAATCAGTTACCAAGTTCTGCTGGCAGTCACTGTGGTTACGACACTCTCTCACTCCTTCCTTTCCCTTCCCATCTTCACTGAGTGACTTCAGGCCTCATTACCTCTTGGTTATTGCAGACTTTGCTAAGGGAGCTGTGTCAGGGGTCCCTAAGACCACCCCCAGGTTCAGTGATTCACTAGAAGGACTCAGCATAGAGGCATCCTTACAGCTAAGGTTTATTATGGTGAAAGGATACAAAAGAAAAGGCACATGGCAATATCTGGGGAAAACCTGGTGTAGGCTTCCAGGAGCCCTCTCCCAGTG... | CTTGCCCCAACTTCCAAATCAGTTACCAAGTTCTGCTGGCAGTCACTGTGGTTACGACACTCTCTCACTCCTTCCTTTCCCTTCCCATCTTCACTGAGTGACTTCAGGCCTCATTACCTCTTGGTTATTGCAGACTTTGCTAAGGGAGCTGTGTCAGGGGTCCCTAAGACCACCCCCAGGTTCAGTGATTCACTAGAAGGACTCAGCATAGAGGCATCCTTACAGCTAAGGTTTATTATGGTGAAAGGATACAAAAGAAAAGGCACATGGCAATATCTGGGGAAAACCTGGTGTAGGCTTCCAGGAGCCCTCTCCCAGTG... | pathogenic | 83,975 |
Variant in gene PKD2 (polycystin 2, transient receptor potential cation channel), located at chromosome 4 position 88046764: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Polycystic_kidney_disease', 'Polycystic_kidney_disease_2'] | GAATCAACTGTTGTGTGCCAGCATGTTGACAATGACCTGTCACATGAAGTCGGGTGTGGAATTTTCCACTTGTGCGTTCATGGCGGTGCTCAGAAAGTTTGGGATTTTGAAGCATTTTATATTTCAGATTTTCACATTAGAAATACTCAAGCTGTCCTTGCTCACAGTGGCCAAAAAAAAAGAAAGAAAGAAAAGAAATACTCAACCAGTAGTCCAGTAGTAGTTATCACTAGAAATGAATGAAAATCTATTGCAGTATTATTGAGTTTTTCCTAATTATTCCAGTGCAGATAAAAAGAAAAGAATAAAAAGGAAGAGAA... | GAATCAACTGTTGTGTGCCAGCATGTTGACAATGACCTGTCACATGAAGTCGGGTGTGGAATTTTCCACTTGTGCGTTCATGGCGGTGCTCAGAAAGTTTGGGATTTTGAAGCATTTTATATTTCAGATTTTCACATTAGAAATACTCAAGCTGTCCTTGCTCACAGTGGCCAAAAAAAAAGAAAGAAAGAAAAGAAATACTCAACCAGTAGTCCAGTAGTAGTTATCACTAGAAATGAATGAAAATCTATTGCAGTATTATTGAGTTTTTCCTAATTATTCCAGTGCAGATAAAAAGAAAAGAATAAAAAGGAAGAGAA... | pathogenic | 83,987 |
For chromosome 4, position 88051992, gene PKD2 (polycystin 2, transient receptor potential cation channel): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Polycystic_kidney_disease_2'] | CCACTTGCTAGGTTGTACAGGGTAAATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTACAGTGGCACCATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCCTCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGAGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACC... | CCACTTGCTAGGTTGTACAGGGTAAATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTACAGTGGCACCATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCCTCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGAGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACC... | pathogenic | 83,993 |
Variant at chromosome 4, position 88052017, gene PKD2 (polycystin 2, transient receptor potential cation channel): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Polycystic_kidney_disease_2'] | ATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTACAGTGGCACCATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCCTCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGAGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCGCCTGGCCCGACTAATTCATTTA... | ATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTACAGTGGCACCATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCCTCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGAGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCGCCTGGCCCGACTAATTCATTTA... | pathogenic | 83,994 |
Variant on chromosome 4, at position 88052109, affecting PKD2 (polycystin 2, transient receptor potential cation channel): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Polycystic_kidney_disease_2'] | GCCTCCCGGGTTCACGCCATTCTCCCTCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGAGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCGCCTGGCCCGACTAATTCATTTATTCAGCGAGTGTTTTCTGAGCACCTACTATGTACTTGCCACTGTTCTAGGCACTGGGGATACAGGAATGAACAAAATCACCCAAATCTCTGC... | GCCTCCCGGGTTCACGCCATTCTCCCTCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGAGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCGCCTGGCCCGACTAATTCATTTATTCAGCGAGTGTTTTCTGAGCACCTACTATGTACTTGCCACTGTTCTAGGCACTGGGGATACAGGAATGAACAAAATCACCCAAATCTCTGC... | pathogenic | 83,998 |
A genetic variant on chromosome 4, position 88052109, affects the gene PKD2 (polycystin 2, transient receptor potential cation channel). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['PKD2-related_disorder'] | GCCTCCCGGGTTCACGCCATTCTCCCTCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGAGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCGCCTGGCCCGACTAATTCATTTATTCAGCGAGTGTTTTCTGAGCACCTACTATGTACTTGCCACTGTTCTAGGCACTGGGGATACAGGAATGAACAAAATCACCCAAATCTCTGC... | GCCTCCCGGGTTCACGCCATTCTCCCTCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGAGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCGCCTGGCCCGACTAATTCATTTATTCAGCGAGTGTTTTCTGAGCACCTACTATGTACTTGCCACTGTTCTAGGCACTGGGGATACAGGAATGAACAAAATCACCCAAATCTCTGC... | pathogenic | 83,999 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 4, position 88058055, gene PKD2 (polycystin 2, transient receptor potential cation channel). What disease(s) is it linked to if pathogenic? | pathogenic; ['Polycystic_kidney_disease_2'] | GATGAAATAATGTTTTATTATATACAGTCACACCATTTTGTTTATCCATTCATCTATTGATGTCTTCTCTCTCTTACAGCTCTTCAAATTCATCAATTTTAACAGGACCATGAGCCAGCTCTCGACAACCATGTCTCGATGTGCCAAAGACCTGTTTGGCTTTGCTATTATGTTCTTCATTATTTTCCTAGCGTATGCTCAGTTGGCATACCTTGTCTTTGGCACTCAGGTCGATGACTTCAGTACTTTCCAAGAGTGTATGTAAGTATATATGAAATTAAGAAGAAAAATTTAATCAGAGTTGTCACTGCTTCTCAAGA... | GATGAAATAATGTTTTATTATATACAGTCACACCATTTTGTTTATCCATTCATCTATTGATGTCTTCTCTCTCTTACAGCTCTTCAAATTCATCAATTTTAACAGGACCATGAGCCAGCTCTCGACAACCATGTCTCGATGTGCCAAAGACCTGTTTGGCTTTGCTATTATGTTCTTCATTATTTTCCTAGCGTATGCTCAGTTGGCATACCTTGTCTTTGGCACTCAGGTCGATGACTTCAGTACTTTCCAAGAGTGTATGTAAGTATATATGAAATTAAGAAGAAAAATTTAATCAGAGTTGTCACTGCTTCTCAAGA... | pathogenic | 84,008 |
Variant at chromosome position 88061903, chromosome 4, gene PKD2 (polycystin 2, transient receptor potential cation channel): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Anhydramnios', 'Enlarged_kidney', 'Hyperechogenic_kidneys', 'Multiple_renal_cysts'] | GGTTGGCCACCTTTCTGAGCCGATTGCCTGGTATTAGTTTATTGCCCCTGTTTAGCAAGAAGGCACAGTGTTAAGAAGTGGCTCAGCTGAACCAGGATAACCCCACTCTTCCCCCACATCAACAGGAAAGACATCCTGGTGCAGATGTCCATCTGATAATTCAGGGAACCTCGGGAGACAGGATGGAGAGGAGGGTGAGCTAGCTTCCTCTTCCCACACCTTCAAGAGCCTTTCTCAAGCACTTTCTATTTTTTGAAATCTCTTTAGAGGTCCCAGACTTTGATCTGTTTCAATTAAGGTATTGGCAGGCATTAGTTAAC... | GGTTGGCCACCTTTCTGAGCCGATTGCCTGGTATTAGTTTATTGCCCCTGTTTAGCAAGAAGGCACAGTGTTAAGAAGTGGCTCAGCTGAACCAGGATAACCCCACTCTTCCCCCACATCAACAGGAAAGACATCCTGGTGCAGATGTCCATCTGATAATTCAGGGAACCTCGGGAGACAGGATGGAGAGGAGGGTGAGCTAGCTTCCTCTTCCCACACCTTCAAGAGCCTTTCTCAAGCACTTTCTATTTTTTGAAATCTCTTTAGAGGTCCCAGACTTTGATCTGTTTCAATTAAGGTATTGGCAGGCATTAGTTAAC... | pathogenic | 84,010 |
Clinically, how would you classify the variant at chromosome 4, position 88061903, gene PKD2 (polycystin 2, transient receptor potential cation channel): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_dominant_polycystic_kidney_disease', 'Polycystic_kidney_disease', 'Polycystic_kidney_disease_2'] | GGTTGGCCACCTTTCTGAGCCGATTGCCTGGTATTAGTTTATTGCCCCTGTTTAGCAAGAAGGCACAGTGTTAAGAAGTGGCTCAGCTGAACCAGGATAACCCCACTCTTCCCCCACATCAACAGGAAAGACATCCTGGTGCAGATGTCCATCTGATAATTCAGGGAACCTCGGGAGACAGGATGGAGAGGAGGGTGAGCTAGCTTCCTCTTCCCACACCTTCAAGAGCCTTTCTCAAGCACTTTCTATTTTTTGAAATCTCTTTAGAGGTCCCAGACTTTGATCTGTTTCAATTAAGGTATTGGCAGGCATTAGTTAAC... | GGTTGGCCACCTTTCTGAGCCGATTGCCTGGTATTAGTTTATTGCCCCTGTTTAGCAAGAAGGCACAGTGTTAAGAAGTGGCTCAGCTGAACCAGGATAACCCCACTCTTCCCCCACATCAACAGGAAAGACATCCTGGTGCAGATGTCCATCTGATAATTCAGGGAACCTCGGGAGACAGGATGGAGAGGAGGGTGAGCTAGCTTCCTCTTCCCACACCTTCAAGAGCCTTTCTCAAGCACTTTCTATTTTTTGAAATCTCTTTAGAGGTCCCAGACTTTGATCTGTTTCAATTAAGGTATTGGCAGGCATTAGTTAAC... | pathogenic | 84,011 |
Benign or pathogenic: chromosome 4, position 88061931, gene PKD2 (polycystin 2, transient receptor potential cation channel) variant? Disease(s) if pathogenic? | pathogenic; ['Polycystic_kidney_disease_2'] | TGGTATTAGTTTATTGCCCCTGTTTAGCAAGAAGGCACAGTGTTAAGAAGTGGCTCAGCTGAACCAGGATAACCCCACTCTTCCCCCACATCAACAGGAAAGACATCCTGGTGCAGATGTCCATCTGATAATTCAGGGAACCTCGGGAGACAGGATGGAGAGGAGGGTGAGCTAGCTTCCTCTTCCCACACCTTCAAGAGCCTTTCTCAAGCACTTTCTATTTTTTGAAATCTCTTTAGAGGTCCCAGACTTTGATCTGTTTCAATTAAGGTATTGGCAGGCATTAGTTAACAGCCACTTGGAAGCAAAAATAGAACATT... | TGGTATTAGTTTATTGCCCCTGTTTAGCAAGAAGGCACAGTGTTAAGAAGTGGCTCAGCTGAACCAGGATAACCCCACTCTTCCCCCACATCAACAGGAAAGACATCCTGGTGCAGATGTCCATCTGATAATTCAGGGAACCTCGGGAGACAGGATGGAGAGGAGGGTGAGCTAGCTTCCTCTTCCCACACCTTCAAGAGCCTTTCTCAAGCACTTTCTATTTTTTGAAATCTCTTTAGAGGTCCCAGACTTTGATCTGTTTCAATTAAGGTATTGGCAGGCATTAGTTAACAGCCACTTGGAAGCAAAAATAGAACATT... | pathogenic | 84,013 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.