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 |
|---|---|---|---|---|---|
A mutation at chromosome position 138781991 on chromosome 5 in gene CTNNA1 (catenin alpha 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_diffuse_gastric_adenocarcinoma'] | TTTAATTTGCCAACATTGTTTTTAAGAGTAACATTGTAGCCCGTTGTGTCATTGTTACATAATTTATTGAGTGATCTGTTGTTTGAAATTTAGGTAATTTATAACTTTTAATGTTTATATAAAGCAGTGTTGTGAACATCATTGTATCCCAGTTTTTACATGTTCCTTAACTTTAGAATAAGATTTTAGCAGTAGATTTTCTGGGTCATACAAATGTACTTTTTAAAGATTTTATTTTATTTATTTATTTTATTTTTTATTTTTTTGAGACGGAGTCTTGCTCTTTCGCCCAGGCCGGACTGCAGTGGCGCTATCTCTGC... | TTTAATTTGCCAACATTGTTTTTAAGAGTAACATTGTAGCCCGTTGTGTCATTGTTACATAATTTATTGAGTGATCTGTTGTTTGAAATTTAGGTAATTTATAACTTTTAATGTTTATATAAAGCAGTGTTGTGAACATCATTGTATCCCAGTTTTTACATGTTCCTTAACTTTAGAATAAGATTTTAGCAGTAGATTTTCTGGGTCATACAAATGTACTTTTTAAAGATTTTATTTTATTTATTTATTTTATTTTTTATTTTTTTGAGACGGAGTCTTGCTCTTTCGCCCAGGCCGGACTGCAGTGGCGCTATCTCTGC... | pathogenic | 101,050 |
Evaluate this variant at chromosome 5, position 138782021, gene CTNNA1 (catenin alpha 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['CTNNA1-related_disorder', 'Hereditary_diffuse_gastric_adenocarcinoma'] | ACATTGTAGCCCGTTGTGTCATTGTTACATAATTTATTGAGTGATCTGTTGTTTGAAATTTAGGTAATTTATAACTTTTAATGTTTATATAAAGCAGTGTTGTGAACATCATTGTATCCCAGTTTTTACATGTTCCTTAACTTTAGAATAAGATTTTAGCAGTAGATTTTCTGGGTCATACAAATGTACTTTTTAAAGATTTTATTTTATTTATTTATTTTATTTTTTATTTTTTTGAGACGGAGTCTTGCTCTTTCGCCCAGGCCGGACTGCAGTGGCGCTATCTCTGCTACTGCAAGCTCCGTCTCTGGGGTTCACGC... | ACATTGTAGCCCGTTGTGTCATTGTTACATAATTTATTGAGTGATCTGTTGTTTGAAATTTAGGTAATTTATAACTTTTAATGTTTATATAAAGCAGTGTTGTGAACATCATTGTATCCCAGTTTTTACATGTTCCTTAACTTTAGAATAAGATTTTAGCAGTAGATTTTCTGGGTCATACAAATGTACTTTTTAAAGATTTTATTTTATTTATTTATTTTATTTTTTATTTTTTTGAGACGGAGTCTTGCTCTTTCGCCCAGGCCGGACTGCAGTGGCGCTATCTCTGCTACTGCAAGCTCCGTCTCTGGGGTTCACGC... | pathogenic | 101,055 |
Evaluate if the mutation on chromosome 5 at position 138783221 in CTNNA1 (catenin alpha 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_diffuse_gastric_adenocarcinoma'] | CCTTTTAGATACTACTGTACCATGAATGTTGTGGAGTAGGAAAAATCAGGATCTTCTGTATTCGTTTTTGAAGCAGTGTCTTTGAAAGTAGCTTTTGGCCGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCATATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAATTAGCCGGGCGTGGTGGCGGGCCCCTGTAGTCACAGCCACTTGGGAGGCTGAGGCCAGAGAATGGCGTGAACCCAGGAGGCGGAGC... | CCTTTTAGATACTACTGTACCATGAATGTTGTGGAGTAGGAAAAATCAGGATCTTCTGTATTCGTTTTTGAAGCAGTGTCTTTGAAAGTAGCTTTTGGCCGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCATATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAATTAGCCGGGCGTGGTGGCGGGCCCCTGTAGTCACAGCCACTTGGGAGGCTGAGGCCAGAGAATGGCGTGAACCCAGGAGGCGGAGC... | pathogenic | 101,070 |
Gene mutation in CTNNA1 (catenin alpha 1) at chromosome 5, position 138783290—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_diffuse_gastric_adenocarcinoma'] | GAAGCAGTGTCTTTGAAAGTAGCTTTTGGCCGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCATATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAATTAGCCGGGCGTGGTGGCGGGCCCCTGTAGTCACAGCCACTTGGGAGGCTGAGGCCAGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCCACCACTGCCCTCCAGCCTGGGCGAAAGAGCAAGACTCTGTCTCAAAAAAA... | GAAGCAGTGTCTTTGAAAGTAGCTTTTGGCCGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCATATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAATTAGCCGGGCGTGGTGGCGGGCCCCTGTAGTCACAGCCACTTGGGAGGCTGAGGCCAGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCCACCACTGCCCTCCAGCCTGGGCGAAAGAGCAAGACTCTGTCTCAAAAAAA... | pathogenic | 101,082 |
A genetic alteration at chromosome 5, position 138810035, in gene CTNNA1 (catenin alpha 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Patterned_macular_dystrophy_2'] | GTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACTACCGTGCCCAGCCTAAGACATTATTAATATATTTTTAAGGCAAATATCTCTTTCTGCATGGCTTTTCAGATAAATTCTTCCCTGAGTAAATAGTTTTCTTCAGCGTATTTCCAGAGCACCTTGTTCACAAGGCTATTTAATTTTTGGGTGCATTGTAATACTCTATAATTTGTGAACCCTTTGAGACCAAATGCCGTGTCTTAACCAGTTGTTAATTTTTTGTCTCCCTCCTTCCCTCCATAGAGCTCCAGTAGGGTATGCCCTTGATG... | GTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACTACCGTGCCCAGCCTAAGACATTATTAATATATTTTTAAGGCAAATATCTCTTTCTGCATGGCTTTTCAGATAAATTCTTCCCTGAGTAAATAGTTTTCTTCAGCGTATTTCCAGAGCACCTTGTTCACAAGGCTATTTAATTTTTGGGTGCATTGTAATACTCTATAATTTGTGAACCCTTTGAGACCAAATGCCGTGTCTTAACCAGTTGTTAATTTTTTGTCTCCCTCCTTCCCTCCATAGAGCTCCAGTAGGGTATGCCCTTGATG... | pathogenic | 101,099 |
Variant chromosome 5, position 138810210, gene CTNNA1 (catenin alpha 1): benign or pathogenic? Disease(s)? | benign | TCACAAGGCTATTTAATTTTTGGGTGCATTGTAATACTCTATAATTTGTGAACCCTTTGAGACCAAATGCCGTGTCTTAACCAGTTGTTAATTTTTTGTCTCCCTCCTTCCCTCCATAGAGCTCCAGTAGGGTATGCCCTTGATGTGCGATGGGTGCTCAAACATTTGTTGAACAAATAAAAGAATGAATGATCTCCATCTTTTAAAATACCAGAAGATACTAGCATTAATGTTACGAATCCACATAATGATTGCCATATGTCTGTATCTTCCTGAAGATGTAAGAGAGAAGACTGTGTTAGATCCAGGAAAACCTTTTA... | TCACAAGGCTATTTAATTTTTGGGTGCATTGTAATACTCTATAATTTGTGAACCCTTTGAGACCAAATGCCGTGTCTTAACCAGTTGTTAATTTTTTGTCTCCCTCCTTCCCTCCATAGAGCTCCAGTAGGGTATGCCCTTGATGTGCGATGGGTGCTCAAACATTTGTTGAACAAATAAAAGAATGAATGATCTCCATCTTTTAAAATACCAGAAGATACTAGCATTAATGTTACGAATCCACATAATGATTGCCATATGTCTGTATCTTCCTGAAGATGTAAGAGAGAAGACTGTGTTAGATCCAGGAAAACCTTTTA... | benign | 101,121 |
Is the genetic variant on chromosome 5, position 138812304, gene CTNNA1 (catenin alpha 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | ACTGGCCTTCCTTAGTTCAGTATTCCTTAGGATTTAGTTTGGTTTTGAATTTGGTTTATCTCAATGGACCAGAGATGTTTTTGTTTAATTTCCACTTACTCCTCTATTCCAAGTATATATCATCCTGGCTCTGTTCTGAGCCAGTGTTGTCTTGGCTGTAATGAAGAACTTGTAGCAAAGATACTGTTTTGACTCCTTCCCTTTTTCCAGTAATGATTAAATATTTTCCTTGTAGAGTTCTGGAGTTGAGAAACCAAGATACATTAAATTTTGTACTTTTATTTATTTATTTATTTTTTCCATTTAACCCTGAGTGGACA... | ACTGGCCTTCCTTAGTTCAGTATTCCTTAGGATTTAGTTTGGTTTTGAATTTGGTTTATCTCAATGGACCAGAGATGTTTTTGTTTAATTTCCACTTACTCCTCTATTCCAAGTATATATCATCCTGGCTCTGTTCTGAGCCAGTGTTGTCTTGGCTGTAATGAAGAACTTGTAGCAAAGATACTGTTTTGACTCCTTCCCTTTTTCCAGTAATGATTAAATATTTTCCTTGTAGAGTTCTGGAGTTGAGAAACCAAGATACATTAAATTTTGTACTTTTATTTATTTATTTATTTTTTCCATTTAACCCTGAGTGGACA... | benign | 101,155 |
Variant chromosome 5, position 138827503, gene CTNNA1 (catenin alpha 1): benign or pathogenic? Disease(s)? | benign | GGCTTCCAGTAGATGGCAGCAGTATAAGTTTTTTTTTTTTTTTTAGGGCTTTAAAAGTAACTGTTGGGGCTAATTAAAAAAAAAAAAAACAAACCAAAAAACAGAAATTGTGTTCCAGGTGACCAGCATCCTTTCATAAAGTAGGGATGCTATGAAATATAGAATAAAAAAAAATTACAATGGAGTGCATTTTGTTTTTAAGTTTTTCCTTGCCTTTACCTTTTCTTTCTTTTGCCACTTTACTTTCGCTTAGGTAGCTGATCCTTGTTGATATGCATGGCCGATTTAAGACTTTTTCATAAAGCAAGAAGGCAGTGTTA... | GGCTTCCAGTAGATGGCAGCAGTATAAGTTTTTTTTTTTTTTTTAGGGCTTTAAAAGTAACTGTTGGGGCTAATTAAAAAAAAAAAAAACAAACCAAAAAACAGAAATTGTGTTCCAGGTGACCAGCATCCTTTCATAAAGTAGGGATGCTATGAAATATAGAATAAAAAAAAATTACAATGGAGTGCATTTTGTTTTTAAGTTTTTCCTTGCCTTTACCTTTTCTTTCTTTTGCCACTTTACTTTCGCTTAGGTAGCTGATCCTTGTTGATATGCATGGCCGATTTAAGACTTTTTCATAAAGCAAGAAGGCAGTGTTA... | benign | 101,227 |
Clinical significance of chromosome 5, position 138827506, gene CTNNA1 (catenin alpha 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTCCAGTAGATGGCAGCAGTATAAGTTTTTTTTTTTTTTTTAGGGCTTTAAAAGTAACTGTTGGGGCTAATTAAAAAAAAAAAAAACAAACCAAAAAACAGAAATTGTGTTCCAGGTGACCAGCATCCTTTCATAAAGTAGGGATGCTATGAAATATAGAATAAAAAAAAATTACAATGGAGTGCATTTTGTTTTTAAGTTTTTCCTTGCCTTTACCTTTTCTTTCTTTTGCCACTTTACTTTCGCTTAGGTAGCTGATCCTTGTTGATATGCATGGCCGATTTAAGACTTTTTCATAAAGCAAGAAGGCAGTGTTAAGT... | TTCCAGTAGATGGCAGCAGTATAAGTTTTTTTTTTTTTTTTAGGGCTTTAAAAGTAACTGTTGGGGCTAATTAAAAAAAAAAAAAACAAACCAAAAAACAGAAATTGTGTTCCAGGTGACCAGCATCCTTTCATAAAGTAGGGATGCTATGAAATATAGAATAAAAAAAAATTACAATGGAGTGCATTTTGTTTTTAAGTTTTTCCTTGCCTTTACCTTTTCTTTCTTTTGCCACTTTACTTTCGCTTAGGTAGCTGATCCTTGTTGATATGCATGGCCGATTTAAGACTTTTTCATAAAGCAAGAAGGCAGTGTTAAGT... | benign | 101,229 |
For chromosome 5, position 138827573, gene CTNNA1 (catenin alpha 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_diffuse_gastric_adenocarcinoma'] | TAATTAAAAAAAAAAAAAACAAACCAAAAAACAGAAATTGTGTTCCAGGTGACCAGCATCCTTTCATAAAGTAGGGATGCTATGAAATATAGAATAAAAAAAAATTACAATGGAGTGCATTTTGTTTTTAAGTTTTTCCTTGCCTTTACCTTTTCTTTCTTTTGCCACTTTACTTTCGCTTAGGTAGCTGATCCTTGTTGATATGCATGGCCGATTTAAGACTTTTTCATAAAGCAAGAAGGCAGTGTTAAGTCTAAAGACCATGGTGTTAGAACTCAGTTTTTACCATGGAGCTTTAAACATTAAATTATTTTATAACA... | TAATTAAAAAAAAAAAAAACAAACCAAAAAACAGAAATTGTGTTCCAGGTGACCAGCATCCTTTCATAAAGTAGGGATGCTATGAAATATAGAATAAAAAAAAATTACAATGGAGTGCATTTTGTTTTTAAGTTTTTCCTTGCCTTTACCTTTTCTTTCTTTTGCCACTTTACTTTCGCTTAGGTAGCTGATCCTTGTTGATATGCATGGCCGATTTAAGACTTTTTCATAAAGCAAGAAGGCAGTGTTAAGTCTAAAGACCATGGTGTTAGAACTCAGTTTTTACCATGGAGCTTTAAACATTAAATTATTTTATAACA... | pathogenic | 101,244 |
A genetic variant on chromosome 5, position 138886300, affects the gene CTNNA1 (catenin alpha 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TCTCCCTGAAGAGCTAAAGTTGGCAGAAAGAAATGTTTGTAGTTAAGATAAATGGAGGCGGGAAGCCAAGGTTCTTGTTATGTAGATGAAGCCTCCAGGTAGTAGGCTTCAGATATTAGATGGCAAATCAGATCCTAAAAGGTGCCAGATTCTTAGTTAAATTTCTCCTAAATCAGGAAAAAACCTAGAAAGGGAAGGAGATTCTCTACAGAATGTAGATTTTCCCCAAAAGTGACCAATTTGCAGGGCCATTTCAAAATATTAATATTTCAGATAAATACATTTTGGGGTAAAATAGTTGGATTTCTTTCAGGGCCTGC... | TCTCCCTGAAGAGCTAAAGTTGGCAGAAAGAAATGTTTGTAGTTAAGATAAATGGAGGCGGGAAGCCAAGGTTCTTGTTATGTAGATGAAGCCTCCAGGTAGTAGGCTTCAGATATTAGATGGCAAATCAGATCCTAAAAGGTGCCAGATTCTTAGTTAAATTTCTCCTAAATCAGGAAAAAACCTAGAAAGGGAAGGAGATTCTCTACAGAATGTAGATTTTCCCCAAAAGTGACCAATTTGCAGGGCCATTTCAAAATATTAATATTTCAGATAAATACATTTTGGGGTAAAATAGTTGGATTTCTTTCAGGGCCTGC... | benign | 101,297 |
Benign or pathogenic: chromosome 5, position 138887547, gene CTNNA1 (catenin alpha 1) variant? Disease(s) if pathogenic? | pathogenic; ['Patterned_macular_dystrophy_2'] | ATTTTATTCCATTTGATTCTGCTTAGAATGTTACCCTGGCAAATCTCGACTCAGCACCTTGACCTCTGAAGACATGCTGTTTTACATACCACTTCAAGAGTGACTAGCGGGTTCTTTTCTGTGCAATATAACTGCATTAAAGCTTAGTCTAGGATTTTTTTAAAGTGACCAAAGTAATCCTACAAAGCATTATGATTTGAGCTGCATAATAAACATTATTAGCTCTGACCTATCAGGTACATCTTAGTTTTTAAATTTGTTGTTTCACATTGTTTCAGTGCCAGGTCCCATTTTTCACATCTTGACATTCTTCAGATCTC... | ATTTTATTCCATTTGATTCTGCTTAGAATGTTACCCTGGCAAATCTCGACTCAGCACCTTGACCTCTGAAGACATGCTGTTTTACATACCACTTCAAGAGTGACTAGCGGGTTCTTTTCTGTGCAATATAACTGCATTAAAGCTTAGTCTAGGATTTTTTTAAAGTGACCAAAGTAATCCTACAAAGCATTATGATTTGAGCTGCATAATAAACATTATTAGCTCTGACCTATCAGGTACATCTTAGTTTTTAAATTTGTTGTTTCACATTGTTTCAGTGCCAGGTCCCATTTTTCACATCTTGACATTCTTCAGATCTC... | pathogenic | 101,309 |
Considering the variant on chromosome 5, location 138904338, involving gene CTNNA1 (catenin alpha 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GATTCATAAGATTGAGAATATAGATTGAAATAAGATTGTGCTAGTAGTGACTGTCCTGGATCCAGCATTCAAGTGGCCTCCTAAATGATTGGAATAGGCAGGGTGCTGGGCACCTCACCAGGGATCTTTGTTTTTTGTTTTTGTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCTCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTAGTAGAGAC... | GATTCATAAGATTGAGAATATAGATTGAAATAAGATTGTGCTAGTAGTGACTGTCCTGGATCCAGCATTCAAGTGGCCTCCTAAATGATTGGAATAGGCAGGGTGCTGGGCACCTCACCAGGGATCTTTGTTTTTTGTTTTTGTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCTCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTAGTAGAGAC... | benign | 101,329 |
A genetic variant on chromosome 5, position 138904381, affects the gene CTNNA1 (catenin alpha 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_diffuse_gastric_adenocarcinoma'] | GTAGTGACTGTCCTGGATCCAGCATTCAAGTGGCCTCCTAAATGATTGGAATAGGCAGGGTGCTGGGCACCTCACCAGGGATCTTTGTTTTTTGTTTTTGTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCTCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC... | GTAGTGACTGTCCTGGATCCAGCATTCAAGTGGCCTCCTAAATGATTGGAATAGGCAGGGTGCTGGGCACCTCACCAGGGATCTTTGTTTTTTGTTTTTGTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCTCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC... | pathogenic | 101,334 |
Evaluate this variant at chromosome 5, position 138924532, gene CTNNA1 (catenin alpha 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Patterned_macular_dystrophy_2'] | GTCTGTATTTTGTATGGACTGTTATATGTATGTGTATGAATTTTTTTCTATTAGAAGCACACCTATAAATAATGTATTGAACAGTTGTTCATGGGTACAGATTGTTGTGTCTACTCATAGTGGACCTATGCTGTTTCCTTAGCTAAAATGATGTATGGTTTCAGTTAAGTGTGGGCAGAGCCTGTCCCCCTCTGTTGAACAGTGGACTCGCACCTCCCCCCATCAGGTTCAGTTGTGGAGAGCAGGCTGGGTGCTCTGTCCTGGGTGTGTGGTAGCCTCAGCGAGGCTGGGGCTTTCCTAGAGACAAGTGTTTCATGAGG... | GTCTGTATTTTGTATGGACTGTTATATGTATGTGTATGAATTTTTTTCTATTAGAAGCACACCTATAAATAATGTATTGAACAGTTGTTCATGGGTACAGATTGTTGTGTCTACTCATAGTGGACCTATGCTGTTTCCTTAGCTAAAATGATGTATGGTTTCAGTTAAGTGTGGGCAGAGCCTGTCCCCCTCTGTTGAACAGTGGACTCGCACCTCCCCCCATCAGGTTCAGTTGTGGAGAGCAGGCTGGGTGCTCTGTCCTGGGTGTGTGGTAGCCTCAGCGAGGCTGGGGCTTTCCTAGAGACAAGTGTTTCATGAGG... | pathogenic | 101,368 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 138929231, gene CTNNA1 (catenin alpha 1). What disease(s) is it linked to if pathogenic? | benign | AGCCAGAGCGATTTCTGTAAGCTTCAATCAGATCATGTTATCCTCTGTGCCAGCGTCTCCACAGGCCGCCACGTCACTCATTCTTTATGCTGGCCTACGAGGCCTTCTGGGACTGGAACCTGTCACTTCTCCAACCTTATTTCCTGCTGATCTCCTCTTGTACTCATGGGGTTCCAGGCAAGCCGGTGACATGGGGGCAGTGAGCTAAGCCCCCCTTCTGTGGCCTCCTTGCTATTCACGCAGTTCCCTGGGCCAATGCCCCTTCCCCACGGCCTCTATGCTGCCACCCGCCCCCCCTTCCCCCTCCTTGAGAGCACCTT... | AGCCAGAGCGATTTCTGTAAGCTTCAATCAGATCATGTTATCCTCTGTGCCAGCGTCTCCACAGGCCGCCACGTCACTCATTCTTTATGCTGGCCTACGAGGCCTTCTGGGACTGGAACCTGTCACTTCTCCAACCTTATTTCCTGCTGATCTCCTCTTGTACTCATGGGGTTCCAGGCAAGCCGGTGACATGGGGGCAGTGAGCTAAGCCCCCCTTCTGTGGCCTCCTTGCTATTCACGCAGTTCCCTGGGCCAATGCCCCTTCCCCACGGCCTCTATGCTGCCACCCGCCCCCCCTTCCCCCTCCTTGAGAGCACCTT... | benign | 101,436 |
Does the chromosome 5 mutation at position 138929232 within gene CTNNA1 (catenin alpha 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GCCAGAGCGATTTCTGTAAGCTTCAATCAGATCATGTTATCCTCTGTGCCAGCGTCTCCACAGGCCGCCACGTCACTCATTCTTTATGCTGGCCTACGAGGCCTTCTGGGACTGGAACCTGTCACTTCTCCAACCTTATTTCCTGCTGATCTCCTCTTGTACTCATGGGGTTCCAGGCAAGCCGGTGACATGGGGGCAGTGAGCTAAGCCCCCCTTCTGTGGCCTCCTTGCTATTCACGCAGTTCCCTGGGCCAATGCCCCTTCCCCACGGCCTCTATGCTGCCACCCGCCCCCCCTTCCCCCTCCTTGAGAGCACCTTC... | GCCAGAGCGATTTCTGTAAGCTTCAATCAGATCATGTTATCCTCTGTGCCAGCGTCTCCACAGGCCGCCACGTCACTCATTCTTTATGCTGGCCTACGAGGCCTTCTGGGACTGGAACCTGTCACTTCTCCAACCTTATTTCCTGCTGATCTCCTCTTGTACTCATGGGGTTCCAGGCAAGCCGGTGACATGGGGGCAGTGAGCTAAGCCCCCCTTCTGTGGCCTCCTTGCTATTCACGCAGTTCCCTGGGCCAATGCCCCTTCCCCACGGCCTCTATGCTGCCACCCGCCCCCCCTTCCCCCTCCTTGAGAGCACCTTC... | benign | 101,437 |
Located at chromosome 5 position 138929272, the variant affecting gene CTNNA1 (catenin alpha 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_diffuse_gastric_adenocarcinoma'] | CCTCTGTGCCAGCGTCTCCACAGGCCGCCACGTCACTCATTCTTTATGCTGGCCTACGAGGCCTTCTGGGACTGGAACCTGTCACTTCTCCAACCTTATTTCCTGCTGATCTCCTCTTGTACTCATGGGGTTCCAGGCAAGCCGGTGACATGGGGGCAGTGAGCTAAGCCCCCCTTCTGTGGCCTCCTTGCTATTCACGCAGTTCCCTGGGCCAATGCCCCTTCCCCACGGCCTCTATGCTGCCACCCGCCCCCCCTTCCCCCTCCTTGAGAGCACCTTCTCGTGAGACTTTTCCAAACACCCATATAGAATTAAAATCT... | CCTCTGTGCCAGCGTCTCCACAGGCCGCCACGTCACTCATTCTTTATGCTGGCCTACGAGGCCTTCTGGGACTGGAACCTGTCACTTCTCCAACCTTATTTCCTGCTGATCTCCTCTTGTACTCATGGGGTTCCAGGCAAGCCGGTGACATGGGGGCAGTGAGCTAAGCCCCCCTTCTGTGGCCTCCTTGCTATTCACGCAGTTCCCTGGGCCAATGCCCCTTCCCCACGGCCTCTATGCTGCCACCCGCCCCCCCTTCCCCCTCCTTGAGAGCACCTTCTCGTGAGACTTTTCCAAACACCCATATAGAATTAAAATCT... | pathogenic | 101,452 |
Is the genetic variant on chromosome 5, position 138930453, gene CTNNA1 (catenin alpha 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AGTCAAAAGAATACTTTAAAATACATTGCCTATTTTTACTCCTCCAAGCAGCCTTGGTACCCTAACAGAAGGCCCAGTTATTTAATTTTCTTTTTGTCATAAAGTAGGAAAGTTATACAAATCCGCTTAATACTATACAAAACACCTCTATTTTTAAGTCAGTACCTTTTCTACCCAGGACAGTTCTCATCTTTGTCTTAAAATGCCGGTGTTGGGGAAGTAAATTAGGAAGTAAAAACCTTATGTCACTGGGCACAAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAGGGCAGGCAGATCACCTGAGGTCA... | AGTCAAAAGAATACTTTAAAATACATTGCCTATTTTTACTCCTCCAAGCAGCCTTGGTACCCTAACAGAAGGCCCAGTTATTTAATTTTCTTTTTGTCATAAAGTAGGAAAGTTATACAAATCCGCTTAATACTATACAAAACACCTCTATTTTTAAGTCAGTACCTTTTCTACCCAGGACAGTTCTCATCTTTGTCTTAAAATGCCGGTGTTGGGGAAGTAAATTAGGAAGTAAAAACCTTATGTCACTGGGCACAAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAGGGCAGGCAGATCACCTGAGGTCA... | benign | 101,468 |
Clinical significance of chromosome 5, position 138930658, gene CTNNA1 (catenin alpha 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CCGGTGTTGGGGAAGTAAATTAGGAAGTAAAAACCTTATGTCACTGGGCACAAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAGGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGTTGCCTCTAATCCCAGCCACTTGGGAGGCTGAGGCAGGTGAATCTCTTGAACCCGGGAGGCGGAGGTTGCATTGATTCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTC... | CCGGTGTTGGGGAAGTAAATTAGGAAGTAAAAACCTTATGTCACTGGGCACAAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAGGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGTTGCCTCTAATCCCAGCCACTTGGGAGGCTGAGGCAGGTGAATCTCTTGAACCCGGGAGGCGGAGGTTGCATTGATTCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTC... | benign | 101,492 |
Variant in CTNNA1 (catenin alpha 1), chromosome 5, position 138930820—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AAAAATACAAAAATTAGCCGGGCATGGTGGCATGTTGCCTCTAATCCCAGCCACTTGGGAGGCTGAGGCAGGTGAATCTCTTGAACCCGGGAGGCGGAGGTTGCATTGATTCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAGGAAAAAAAAAAACAATCATGTCTTACAAAGAAATAGTGAATTGACTCAGTGATAGCAATTGAGCCCCACACACAGTGAAACCAGCCCAGGCCTGCTGTGGGCCAGGCAGCCCAGCGTGTGCACCAGTGAAGCAGAGGCTCGAGACAAATGCT... | AAAAATACAAAAATTAGCCGGGCATGGTGGCATGTTGCCTCTAATCCCAGCCACTTGGGAGGCTGAGGCAGGTGAATCTCTTGAACCCGGGAGGCGGAGGTTGCATTGATTCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAGGAAAAAAAAAAACAATCATGTCTTACAAAGAAATAGTGAATTGACTCAGTGATAGCAATTGAGCCCCACACACAGTGAAACCAGCCCAGGCCTGCTGTGGGCCAGGCAGCCCAGCGTGTGCACCAGTGAAGCAGAGGCTCGAGACAAATGCT... | benign | 101,495 |
Considering the variant on chromosome 5, location 138932717, involving gene CTNNA1 (catenin alpha 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GGCCCCACCAGGCTGCACAGGGGCTACTTTCTTCCCCACAGGTCACCTGCGCAGCGGCTCAGACAGCCCAGGCCATGGGGCTTTGTGGACAATCTTCTTTTTCTACTCCAACTGTGAGGGGCTTCACATACAATAATCCTTGTTCTCTTCCCTCTTCTCAGAGGTAAAGGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGCCGCACCATTGCAGACCATGTAAGTGACAGACTTGCCAGGTGGGTCTCCAAGCTCCTCCTGGGGCTCAGGCA... | GGCCCCACCAGGCTGCACAGGGGCTACTTTCTTCCCCACAGGTCACCTGCGCAGCGGCTCAGACAGCCCAGGCCATGGGGCTTTGTGGACAATCTTCTTTTTCTACTCCAACTGTGAGGGGCTTCACATACAATAATCCTTGTTCTCTTCCCTCTTCTCAGAGGTAAAGGACCACTCAAAAATACATCGGATGTCATCAGTGCTGCCAAGAAAATTGCTGAGGCAGGATCCAGGATGGACAAGCTTGGCCGCACCATTGCAGACCATGTAAGTGACAGACTTGCCAGGTGGGTCTCCAAGCTCCTCCTGGGGCTCAGGCA... | benign | 101,551 |
Clinically, how would you classify the variant at chromosome 5, position 138933787, gene CTNNA1 (catenin alpha 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TGAAAATGCAGATCACATGGCTCTGCCCTGCTTCCATGACTACTTAGAATACAGCTCATCTCCAGTATGGTCTGCGGGGTCTCAGTTCATACCACTCTCTGTGGTGTACTTTGCTCCAGCCTCACTGGAAGAAAATGTTTGCTTGCTATAAACACTTGAGAGGTGCTCTGTGTTTCTCCCTTTGGGTAAAGCTTTCTAGGCTGGTCCTAATCTGGGAGCCTCTAAAACTCTGAGATGTGGAGCGAGACAGGAACTGGGCAGGGGCCACCCTTTTCTCTTTGACCATCCCCAACTGCTTTTTTTCTTGCTTTACTTTACTC... | TGAAAATGCAGATCACATGGCTCTGCCCTGCTTCCATGACTACTTAGAATACAGCTCATCTCCAGTATGGTCTGCGGGGTCTCAGTTCATACCACTCTCTGTGGTGTACTTTGCTCCAGCCTCACTGGAAGAAAATGTTTGCTTGCTATAAACACTTGAGAGGTGCTCTGTGTTTCTCCCTTTGGGTAAAGCTTTCTAGGCTGGTCCTAATCTGGGAGCCTCTAAAACTCTGAGATGTGGAGCGAGACAGGAACTGGGCAGGGGCCACCCTTTTCTCTTTGACCATCCCCAACTGCTTTTTTTCTTGCTTTACTTTACTC... | benign | 101,555 |
Located at chromosome 5 position 138933787, the variant affecting gene CTNNA1 (catenin alpha 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TGAAAATGCAGATCACATGGCTCTGCCCTGCTTCCATGACTACTTAGAATACAGCTCATCTCCAGTATGGTCTGCGGGGTCTCAGTTCATACCACTCTCTGTGGTGTACTTTGCTCCAGCCTCACTGGAAGAAAATGTTTGCTTGCTATAAACACTTGAGAGGTGCTCTGTGTTTCTCCCTTTGGGTAAAGCTTTCTAGGCTGGTCCTAATCTGGGAGCCTCTAAAACTCTGAGATGTGGAGCGAGACAGGAACTGGGCAGGGGCCACCCTTTTCTCTTTGACCATCCCCAACTGCTTTTTTTCTTGCTTTACTTTACTC... | TGAAAATGCAGATCACATGGCTCTGCCCTGCTTCCATGACTACTTAGAATACAGCTCATCTCCAGTATGGTCTGCGGGGTCTCAGTTCATACCACTCTCTGTGGTGTACTTTGCTCCAGCCTCACTGGAAGAAAATGTTTGCTTGCTATAAACACTTGAGAGGTGCTCTGTGTTTCTCCCTTTGGGTAAAGCTTTCTAGGCTGGTCCTAATCTGGGAGCCTCTAAAACTCTGAGATGTGGAGCGAGACAGGAACTGGGCAGGGGCCACCCTTTTCTCTTTGACCATCCCCAACTGCTTTTTTTCTTGCTTTACTTTACTC... | benign | 101,556 |
For chromosome 5, position 138933791, gene CTNNA1 (catenin alpha 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | AATGCAGATCACATGGCTCTGCCCTGCTTCCATGACTACTTAGAATACAGCTCATCTCCAGTATGGTCTGCGGGGTCTCAGTTCATACCACTCTCTGTGGTGTACTTTGCTCCAGCCTCACTGGAAGAAAATGTTTGCTTGCTATAAACACTTGAGAGGTGCTCTGTGTTTCTCCCTTTGGGTAAAGCTTTCTAGGCTGGTCCTAATCTGGGAGCCTCTAAAACTCTGAGATGTGGAGCGAGACAGGAACTGGGCAGGGGCCACCCTTTTCTCTTTGACCATCCCCAACTGCTTTTTTTCTTGCTTTACTTTACTCACTT... | AATGCAGATCACATGGCTCTGCCCTGCTTCCATGACTACTTAGAATACAGCTCATCTCCAGTATGGTCTGCGGGGTCTCAGTTCATACCACTCTCTGTGGTGTACTTTGCTCCAGCCTCACTGGAAGAAAATGTTTGCTTGCTATAAACACTTGAGAGGTGCTCTGTGTTTCTCCCTTTGGGTAAAGCTTTCTAGGCTGGTCCTAATCTGGGAGCCTCTAAAACTCTGAGATGTGGAGCGAGACAGGAACTGGGCAGGGGCCACCCTTTTCTCTTTGACCATCCCCAACTGCTTTTTTTCTTGCTTTACTTTACTCACTT... | benign | 101,558 |
Evaluate the clinical significance of the mutation at chromosome 5, position 138951252 in gene SIL1 (SIL1 nucleotide exchange factor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Marinesco-Sjögren_syndrome'] | CCAGAGGCCATGGAATCCAAACCCCAGGCAGGCATCTCACCACTGCAGAAGCCCAGATGTCAGGGCATGGTCTCTCAGTAGAGGTCCTCTCACAGGCCAAGGTACATATGAGGACTGCCTGGGGCCTGGCAGACCCCAGCACCCTGATGGGGGTGTCACATTGCCCATGGGAATTCCACAGTCCTTGGCTGTCATGACAACATGCTGCAGTGATCCCCGAGCTGCATGGCACCCCTCCATCGTGGTGGACAGCTCATGTCCCTCCACCTTCAGGCAGCTCTGGACCCACCCCTAGCTTGGCTAGGTCTTCATTCTTAAGC... | CCAGAGGCCATGGAATCCAAACCCCAGGCAGGCATCTCACCACTGCAGAAGCCCAGATGTCAGGGCATGGTCTCTCAGTAGAGGTCCTCTCACAGGCCAAGGTACATATGAGGACTGCCTGGGGCCTGGCAGACCCCAGCACCCTGATGGGGGTGTCACATTGCCCATGGGAATTCCACAGTCCTTGGCTGTCATGACAACATGCTGCAGTGATCCCCGAGCTGCATGGCACCCCTCCATCGTGGTGGACAGCTCATGTCCCTCCACCTTCAGGCAGCTCTGGACCCACCCCTAGCTTGGCTAGGTCTTCATTCTTAAGC... | pathogenic | 101,629 |
Is the chromosome 5, position 139121066 variant in SIL1 (SIL1 nucleotide exchange factor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Marinesco-Sjögren_syndrome'] | CTCTGCGTCTGGGTGCAACTGCAACACACCAGCCTTTGGGACAACTCCAAGGGAATTTTGTGCAGAAGAGTTTACCAGGGACTCTTGAGAAACTCCAAGGCAGAGGGTGATGCCAATGAAACATCAAGTTAACTGTAAAAATCAGTGCTCTACTCCAATTCTCCAGGAGTCTCTCAGAGTCCACAGTCCACTCTTGTCACACAGGCTCTGGCTGTCCCTCCCCAAGGATACAGAGAGGGGCTCTTTTTAGCCATTAATAGCAGCCCCACTGCCCAGAGGGTTGGGCAAGGGGCCAGGGTCAGAACCATCAACATCGTTCA... | CTCTGCGTCTGGGTGCAACTGCAACACACCAGCCTTTGGGACAACTCCAAGGGAATTTTGTGCAGAAGAGTTTACCAGGGACTCTTGAGAAACTCCAAGGCAGAGGGTGATGCCAATGAAACATCAAGTTAACTGTAAAAATCAGTGCTCTACTCCAATTCTCCAGGAGTCTCTCAGAGTCCACAGTCCACTCTTGTCACACAGGCTCTGGCTGTCCCTCCCCAAGGATACAGAGAGGGGCTCTTTTTAGCCATTAATAGCAGCCCCACTGCCCAGAGGGTTGGGCAAGGGGCCAGGGTCAGAACCATCAACATCGTTCA... | pathogenic | 101,644 |
Variant chromosome 5, position 139121126, gene SIL1 (SIL1 nucleotide exchange factor): benign or pathogenic? Disease(s)? | benign | TGCAGAAGAGTTTACCAGGGACTCTTGAGAAACTCCAAGGCAGAGGGTGATGCCAATGAAACATCAAGTTAACTGTAAAAATCAGTGCTCTACTCCAATTCTCCAGGAGTCTCTCAGAGTCCACAGTCCACTCTTGTCACACAGGCTCTGGCTGTCCCTCCCCAAGGATACAGAGAGGGGCTCTTTTTAGCCATTAATAGCAGCCCCACTGCCCAGAGGGTTGGGCAAGGGGCCAGGGTCAGAACCATCAACATCGTTCAGTCTGCAACATGAACCAGGATGCTACTGGATGAAGGGAGCTACTGACTCAACCACAGAAA... | TGCAGAAGAGTTTACCAGGGACTCTTGAGAAACTCCAAGGCAGAGGGTGATGCCAATGAAACATCAAGTTAACTGTAAAAATCAGTGCTCTACTCCAATTCTCCAGGAGTCTCTCAGAGTCCACAGTCCACTCTTGTCACACAGGCTCTGGCTGTCCCTCCCCAAGGATACAGAGAGGGGCTCTTTTTAGCCATTAATAGCAGCCCCACTGCCCAGAGGGTTGGGCAAGGGGCCAGGGTCAGAACCATCAACATCGTTCAGTCTGCAACATGAACCAGGATGCTACTGGATGAAGGGAGCTACTGACTCAACCACAGAAA... | benign | 101,647 |
Is the variant located on chromosome 5 at position 139307308, gene MATR3 (matrin 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TTTTGTTGATCCACTGTTTTCCTATGAGCTACCAAAAAATGTAATTCAGAGCTCTGTAGTCTAACAGTCACATTTCCTTAAAATATGGCCGTTTTAAAAATTTTAAACATAATTGTAATACCATTATATAATTTCTCTTAGGGAAAAAATAATTCAAAAGACTGACTTTTCAGTAATGCAAAGCTTTGGCTACAACATGAAGGTCAAAGCTGCAATTAATAACCCTGATACTTCAACATTTTTATTTTGAAAAACCCTCTAAAGGATTTGATTTGTAAAAATATGTGTGAAAATTTAGAGGGTCCACCACCATTTACATA... | TTTTGTTGATCCACTGTTTTCCTATGAGCTACCAAAAAATGTAATTCAGAGCTCTGTAGTCTAACAGTCACATTTCCTTAAAATATGGCCGTTTTAAAAATTTTAAACATAATTGTAATACCATTATATAATTTCTCTTAGGGAAAAAATAATTCAAAAGACTGACTTTTCAGTAATGCAAAGCTTTGGCTACAACATGAAGGTCAAAGCTGCAATTAATAACCCTGATACTTCAACATTTTTATTTTGAAAAACCCTCTAAAGGATTTGATTTGTAAAAATATGTGTGAAAATTTAGAGGGTCCACCACCATTTACATA... | benign | 101,653 |
Variant at chromosome 5, position 140114225, gene PURA (purine rich element binding protein A): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['PURA-related_severe_neonatal_hypotonia-seizures-encephalopathy_syndrome'] | TGATCGTTAGTCCACTCTTTTCTAGGAAGCTGGGCAATCATATTCCCAGTTGTCCCTCGGGCTAAGAGTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAG... | TGATCGTTAGTCCACTCTTTTCTAGGAAGCTGGGCAATCATATTCCCAGTTGTCCCTCGGGCTAAGAGTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAG... | pathogenic | 101,704 |
Is chromosome 5, position 140114230, gene PURA (purine rich element binding protein A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['PURA-related_severe_neonatal_hypotonia-seizures-encephalopathy_syndrome'] | GTTAGTCCACTCTTTTCTAGGAAGCTGGGCAATCATATTCCCAGTTGTCCCTCGGGCTAAGAGTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGC... | GTTAGTCCACTCTTTTCTAGGAAGCTGGGCAATCATATTCCCAGTTGTCCCTCGGGCTAAGAGTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGC... | pathogenic | 101,705 |
Is the variant located on chromosome 5 at position 140114253, gene PURA (purine rich element binding protein A), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GCTGGGCAATCATATTCCCAGTTGTCCCTCGGGCTAAGAGTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAA... | GCTGGGCAATCATATTCCCAGTTGTCCCTCGGGCTAAGAGTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAA... | benign | 101,706 |
Determine if the mutation at chromosome 5, position 140114284 in gene PURA (purine rich element binding protein A) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GGCTAAGAGTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATAC... | GGCTAAGAGTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATAC... | benign | 101,708 |
The mutation in gene PURA (purine rich element binding protein A) at chromosome 5, position 140114286—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTAAGAGTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGT... | CTAAGAGTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGT... | benign | 101,711 |
The mutation impacting PURA (purine rich element binding protein A) on chromosome 5 at position 140114292: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['PURA_Syndrome'] | GTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTC... | GTGAGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTC... | pathogenic | 101,712 |
Evaluate the clinical significance of the mutation at chromosome 5, position 140114295 in gene PURA (purine rich element binding protein A): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | AGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAG... | AGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAG... | benign | 101,713 |
Variant in gene PURA (purine rich element binding protein A), located at chromosome 5 position 140114295: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | AGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAG... | AGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAG... | benign | 101,714 |
Mutation found at chromosome 5 position 140114295, gene PURA (purine rich element binding protein A): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAG... | AGGGAGGCAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAG... | benign | 101,715 |
Gene PURA (purine rich element binding protein A) variant at chromosome position 140114302 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGA... | CAAGTCTCCTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGA... | benign | 101,716 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 140114310, gene PURA (purine rich element binding protein A): what disease(s) if pathogenic? | benign | CTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAG... | CTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAG... | benign | 101,718 |
Benign or pathogenic: chromosome 5, position 140114310, gene PURA (purine rich element binding protein A) variant? Disease(s) if pathogenic? | benign | CTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAG... | CTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAG... | benign | 101,719 |
Classify the chromosome 5 variant at position 140114310 affecting gene PURA (purine rich element binding protein A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAG... | CTTACTTTTGGGGGAAGCGGGAGATGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAG... | benign | 101,720 |
The mutation impacting PURA (purine rich element binding protein A) on chromosome 5 at position 140114334: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Intellectual_disability', 'PURA-related_severe_neonatal_hypotonia-seizures-encephalopathy_syndrome', 'PURA-related_severe_neonatal_hypotonia-seizures-encephalopathy_syndrome_due_to_a_point_mutation'] | TGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCT... | TGCTCAATGGGAATAGAACCCACAAATGGAATAGGTATACTTTTCTCAGGATAGAGGCAACGATCTGTGCTTGAGAAAGCCAGGGGCAGAGCTGTGTGATCTGTGTCTCTCAGCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCT... | pathogenic | 101,723 |
Clinical significance of chromosome 5, position 140114446, gene PURA (purine rich element binding protein A): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['PURA-related_severe_neonatal_hypotonia-seizures-encephalopathy_syndrome'] | GCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATA... | GCTGCCTGTAGAAGGTGATGGGGGAGAGAGTGGGCGCATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATA... | pathogenic | 101,735 |
Clinically, how would you classify the variant at chromosome 5, position 140114482, gene PURA (purine rich element binding protein A): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Delayed_speech_and_language_development', 'Global_developmental_delay', 'Intellectual_disability', 'Neonatal_hypotonia', 'PURA-related_disorder', 'PURA-related_severe_neonatal_hypotonia-seizures-encephalopathy_syndrome'] | CATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAA... | CATTGGCAGGGGGGGGTCCCCTGGAGATAGGCCTTAGCTTTCCCCAGAGTGCCAGGGCTGCAGACTGCAGTGAGAGAGTACAAGCACTCAATACCTATCTGGAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAA... | pathogenic | 101,737 |
Regarding the variant at chromosome 5 and position 140114583, affecting gene PURA: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['PURA-related_severe_neonatal_hypotonia-seizures-encephalopathy_syndrome'] | GAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTT... | GAAATAAGCCCTAGGTTATACGTCAGGTCTAGTAAAAGAGAAATCAGGTATCTCTGAGCTCCTCTACTCCTGAGCCCCTAATACCAGAGAAGATCCTTTTTAGCTATCACCGTCCAAAGACTCACTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTT... | pathogenic | 101,741 |
Assess the variant on chromosome 5, position 140114707, impacting PURA (purine rich element binding protein A): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Inborn_genetic_diseases', 'PURA-related_severe_neonatal_hypotonia-seizures-encephalopathy_syndrome', 'PURA-related_severe_neonatal_hypotonia-seizures-encephalopathy_syndrome_due_to_a_point_mutation'] | CTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGG... | CTGGTTAATTAATGGTCAGCAACTTAGCTGTCTGCATAAAAACCAGCGACCACTTAATATGTTACTTTTGGGAGTGGGATCTCTCCTTGACACAAGTTTCTGGGAAGAGTAAAAGGGGCAAGCGAACCTGCTTTAATGAATCCCGTAAGGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGG... | pathogenic | 101,751 |
Chromosome 5, position 140114855, gene PURA (purine rich element binding protein A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability', 'PURA-related_severe_neonatal_hypotonia-seizures-encephalopathy_syndrome'] | GGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGG... | GGAACTGCGTTTCCCAGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGG... | pathogenic | 101,763 |
Assess the variant on chromosome 5, position 140114870, impacting PURA (purine rich element binding protein A): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Inborn_genetic_diseases', 'PURA-related_disorder', 'PURA-related_severe_neonatal_hypotonia-seizures-encephalopathy_syndrome', 'PURA_Syndrome'] | AGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGA... | AGGAAATTCCTGACATTTTTAGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGA... | pathogenic | 101,765 |
Variant on chromosome 5, at position 140114890, affecting PURA (purine rich element binding protein A): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | AGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGC... | AGCTCATGAATTTCCGAAAGCCTGCTTGGTTTTCTCCTCCATTCTGGGTCCTTCCAGAAAGGAAGAAGAGTGGGCTAGGGTCTGAATGCTCACAGGGCCTGGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGC... | pathogenic | 101,768 |
Chromosome 5, position 140114990, gene PURA (purine rich element binding protein A): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Delayed_speech_and_language_development', 'Global_developmental_delay', 'Intellectual_disability', 'Neonatal_hypotonia', 'PURA-related_severe_neonatal_hypotonia-seizures-encephalopathy_syndrome', 'Seizure'] | GGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGG... | GGTTCATCCGCAGAGCTGGCCAGCAACTCAGGCTGGGCTCAGCCCTGAGCAGGGTGCCCCCCTTCCCCAAATCTCAGAAGGAGGAGGGGGAGGCGGGCGGGCAGGCAGTCAGTCGTGGTCCCAAGGGGGACTGGCTGCAGGTTTTTGGGTGAGTGTGGAGTTTCTTTTTGATTGTTGCATGTGGGGAAGGGCAGAGTCGACGGGAACAGTCACTGCGGGCACCCTAGCCCTGGTGCGTCTACTGTCCTCTGCTCGGCTCCCCCCATCGGTGAGTGCGCCCGCCCGCCCGACTGTGCGGGGCTGCGGTTGGGGGGAGGGGG... | pathogenic | 101,771 |
Is the genetic mutation found on chromosome 5 at position 140552043, within the gene SRA1 (steroid receptor RNA activator 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CAGCATGATAGTCCACCAAGTACCTCTCTCAAAGGGTTACAAGAGACCTTAGAGTTCACACTGAAACCCAAAATGAGGCAGCAGTTTGTTTGGCAAGTCAGAGTTACAATCCCCAATCTCAGTAATCTGGTCTTTTTCTCCTTCGATTTACACAGAAAACCCCACTCAATGTGGTTCTAATCTCTGTAACAGTAGTATCTCAAGGGTGATACAGTGCAAATAGGACTGTCTTTCCTTTTGTTGAGGGAAAAGTCTCCCCGTTCTATTTGAGTCTGTTCTCATGCTGAAATGAAACCATCCAAACACAGCTGCTCCGCCCA... | CAGCATGATAGTCCACCAAGTACCTCTCTCAAAGGGTTACAAGAGACCTTAGAGTTCACACTGAAACCCAAAATGAGGCAGCAGTTTGTTTGGCAAGTCAGAGTTACAATCCCCAATCTCAGTAATCTGGTCTTTTTCTCCTTCGATTTACACAGAAAACCCCACTCAATGTGGTTCTAATCTCTGTAACAGTAGTATCTCAAGGGTGATACAGTGCAAATAGGACTGTCTTTCCTTTTGTTGAGGGAAAAGTCTCCCCGTTCTATTTGAGTCTGTTCTCATGCTGAAATGAAACCATCCAAACACAGCTGCTCCGCCCA... | benign | 101,776 |
Evaluate this variant at chromosome 5, position 140552044, gene SRA1 (steroid receptor RNA activator 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | AGCATGATAGTCCACCAAGTACCTCTCTCAAAGGGTTACAAGAGACCTTAGAGTTCACACTGAAACCCAAAATGAGGCAGCAGTTTGTTTGGCAAGTCAGAGTTACAATCCCCAATCTCAGTAATCTGGTCTTTTTCTCCTTCGATTTACACAGAAAACCCCACTCAATGTGGTTCTAATCTCTGTAACAGTAGTATCTCAAGGGTGATACAGTGCAAATAGGACTGTCTTTCCTTTTGTTGAGGGAAAAGTCTCCCCGTTCTATTTGAGTCTGTTCTCATGCTGAAATGAAACCATCCAAACACAGCTGCTCCGCCCAG... | AGCATGATAGTCCACCAAGTACCTCTCTCAAAGGGTTACAAGAGACCTTAGAGTTCACACTGAAACCCAAAATGAGGCAGCAGTTTGTTTGGCAAGTCAGAGTTACAATCCCCAATCTCAGTAATCTGGTCTTTTTCTCCTTCGATTTACACAGAAAACCCCACTCAATGTGGTTCTAATCTCTGTAACAGTAGTATCTCAAGGGTGATACAGTGCAAATAGGACTGTCTTTCCTTTTGTTGAGGGAAAAGTCTCCCCGTTCTATTTGAGTCTGTTCTCATGCTGAAATGAAACCATCCAAACACAGCTGCTCCGCCCAG... | benign | 101,777 |
Does the genetic variant at chromosome 5, position 140552191, impacting gene SRA1 (steroid receptor RNA activator 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TACACAGAAAACCCCACTCAATGTGGTTCTAATCTCTGTAACAGTAGTATCTCAAGGGTGATACAGTGCAAATAGGACTGTCTTTCCTTTTGTTGAGGGAAAAGTCTCCCCGTTCTATTTGAGTCTGTTCTCATGCTGAAATGAAACCATCCAAACACAGCTGCTCCGCCCAGCACAGGATGTGCTTTCAGTCTACTTTGGGAAAAAGTGGTAGGCAGTAGTCTGACTTTACCCAGCAGATCCCTTCCTGATGAATGGAGAAGGGAGAACAGAGGTTTGCAGATACACAGGGAGCAGGGCAGTCGAGGACACCAGAGGGG... | TACACAGAAAACCCCACTCAATGTGGTTCTAATCTCTGTAACAGTAGTATCTCAAGGGTGATACAGTGCAAATAGGACTGTCTTTCCTTTTGTTGAGGGAAAAGTCTCCCCGTTCTATTTGAGTCTGTTCTCATGCTGAAATGAAACCATCCAAACACAGCTGCTCCGCCCAGCACAGGATGTGCTTTCAGTCTACTTTGGGAAAAAGTGGTAGGCAGTAGTCTGACTTTACCCAGCAGATCCCTTCCTGATGAATGGAGAAGGGAGAACAGAGGTTTGCAGATACACAGGGAGCAGGGCAGTCGAGGACACCAGAGGGG... | benign | 101,778 |
Considering the genetic mutation at chromosome 5, position 140691714, impacting HARS2: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | ATGTGGGACCTTGGGATATGGAGGGCTGACTATACCTATTTAGGCATCTAGTCTCAGTCTCAGGGTAAATAAACGACATAAATAACTACTTAAAGTTGGTGTAATAACAAATATGTATGAAGTGCCAAGAGCACCTAGATGAAGGGGTAAACAGTTCTGTTTATAGAACTTACAGAAAGTGGAACTGAACTGGAGGATGAGCTCAGAATCTCCAACCTCATTCCACTCTACTCTCCTTAACTTAGTTCTAGCCATGTAGATCATCCTCTAGTTCCTCAAAACTACCAAAGTTCTTTCCCACTTTAGGGTTTCCATACTCT... | ATGTGGGACCTTGGGATATGGAGGGCTGACTATACCTATTTAGGCATCTAGTCTCAGTCTCAGGGTAAATAAACGACATAAATAACTACTTAAAGTTGGTGTAATAACAAATATGTATGAAGTGCCAAGAGCACCTAGATGAAGGGGTAAACAGTTCTGTTTATAGAACTTACAGAAAGTGGAACTGAACTGGAGGATGAGCTCAGAATCTCCAACCTCATTCCACTCTACTCTCCTTAACTTAGTTCTAGCCATGTAGATCATCCTCTAGTTCCTCAAAACTACCAAAGTTCTTTCCCACTTTAGGGTTTCCATACTCT... | pathogenic | 101,819 |
Chromosome 5, position 140694180, gene HARS2 (histidyl-tRNA synthetase 2, mitochondrial): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CAGAAGTAGACTGAGTTCATCTTAGAATTTACCTCAAAATGAATCTCAGAAAAACATTTTCAGATGTCAGAGAGTTTTGGATTTTGGAATTGCAGATAAGGGATTGTGTACTTGAACTTGGACTTCTCTTAGGGCAGATAATCGCCATAGTATGGAACCACCACATCCTCTATTTTTGGAAGGGCATACAGCGTGCTGGTAATGTCACTGATTAAGTTTTGCCTTACTTCGGAAAGATTCTAATGCTCTCTTAGCAGATGCTTTGTGCTATCGTGAACAATAGGGCACAGATCTTTTATTGATATTCAATCACAGCATCT... | CAGAAGTAGACTGAGTTCATCTTAGAATTTACCTCAAAATGAATCTCAGAAAAACATTTTCAGATGTCAGAGAGTTTTGGATTTTGGAATTGCAGATAAGGGATTGTGTACTTGAACTTGGACTTCTCTTAGGGCAGATAATCGCCATAGTATGGAACCACCACATCCTCTATTTTTGGAAGGGCATACAGCGTGCTGGTAATGTCACTGATTAAGTTTTGCCTTACTTCGGAAAGATTCTAATGCTCTCTTAGCAGATGCTTTGTGCTATCGTGAACAATAGGGCACAGATCTTTTATTGATATTCAATCACAGCATCT... | benign | 101,825 |
The mutation in gene DIAPH1 (diaphanous related formin 1) at chromosome 5, position 141527577—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_1', 'Hearing_impairment', 'Progressive_microcephaly-seizures-cortical_blindness-developmental_delay_syndrome'] | GACCGGCTCCCCACCCGCTCCAAAAGTTCAATCCATTTAAAATCTAATTGTGCATACAACTGTGCTAAGGTACTAGGGACATAGTACTTTGTGAAATAAGCAGAAAGGGAAGACACGCCACAATTAAAAGATGGGAGGAGCGTCAGGAAAATATTTTACAGAAAAAAACCCGAAAGATTTAGTGGAGGGAATGAGAACAGGCCAGAGGAACCTTTGGATGGACAGAAGGAAAACAGTATATATCACAGCAATACCACAATCACAGGGGAATGAGAGAGAATGCAAGAGCGAGCAAAGGAGAGAAAAGGTAATAGTTTAAC... | GACCGGCTCCCCACCCGCTCCAAAAGTTCAATCCATTTAAAATCTAATTGTGCATACAACTGTGCTAAGGTACTAGGGACATAGTACTTTGTGAAATAAGCAGAAAGGGAAGACACGCCACAATTAAAAGATGGGAGGAGCGTCAGGAAAATATTTTACAGAAAAAAACCCGAAAGATTTAGTGGAGGGAATGAGAACAGGCCAGAGGAACCTTTGGATGGACAGAAGGAAAACAGTATATATCACAGCAATACCACAATCACAGGGGAATGAGAGAGAATGCAAGAGCGAGCAAAGGAGAGAAAAGGTAATAGTTTAAC... | pathogenic | 101,874 |
Is the genetic change at chromosome 5, position 141527699, within gene DIAPH1 (diaphanous related formin 1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATTAAAAGATGGGAGGAGCGTCAGGAAAATATTTTACAGAAAAAAACCCGAAAGATTTAGTGGAGGGAATGAGAACAGGCCAGAGGAACCTTTGGATGGACAGAAGGAAAACAGTATATATCACAGCAATACCACAATCACAGGGGAATGAGAGAGAATGCAAGAGCGAGCAAAGGAGAGAAAAGGTAATAGTTTAACCAGGGCAAGTTGGAATGCGCATGTATCAGAATTGGGGTTAAAGTCCGGCATCAGGATCTCGGAGTGAAGACTGCCAAAAATCATTTGCCAGGAGGTGAGCTCAGACATGAGACTCTGCCTCT... | ATTAAAAGATGGGAGGAGCGTCAGGAAAATATTTTACAGAAAAAAACCCGAAAGATTTAGTGGAGGGAATGAGAACAGGCCAGAGGAACCTTTGGATGGACAGAAGGAAAACAGTATATATCACAGCAATACCACAATCACAGGGGAATGAGAGAGAATGCAAGAGCGAGCAAAGGAGAGAAAAGGTAATAGTTTAACCAGGGCAAGTTGGAATGCGCATGTATCAGAATTGGGGTTAAAGTCCGGCATCAGGATCTCGGAGTGAAGACTGCCAAAAATCATTTGCCAGGAGGTGAGCTCAGACATGAGACTCTGCCTCT... | benign | 101,879 |
The chromosome 5, position 141527699 genetic variant in gene DIAPH1 (diaphanous related formin 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | ATTAAAAGATGGGAGGAGCGTCAGGAAAATATTTTACAGAAAAAAACCCGAAAGATTTAGTGGAGGGAATGAGAACAGGCCAGAGGAACCTTTGGATGGACAGAAGGAAAACAGTATATATCACAGCAATACCACAATCACAGGGGAATGAGAGAGAATGCAAGAGCGAGCAAAGGAGAGAAAAGGTAATAGTTTAACCAGGGCAAGTTGGAATGCGCATGTATCAGAATTGGGGTTAAAGTCCGGCATCAGGATCTCGGAGTGAAGACTGCCAAAAATCATTTGCCAGGAGGTGAGCTCAGACATGAGACTCTGCCTCT... | ATTAAAAGATGGGAGGAGCGTCAGGAAAATATTTTACAGAAAAAAACCCGAAAGATTTAGTGGAGGGAATGAGAACAGGCCAGAGGAACCTTTGGATGGACAGAAGGAAAACAGTATATATCACAGCAATACCACAATCACAGGGGAATGAGAGAGAATGCAAGAGCGAGCAAAGGAGAGAAAAGGTAATAGTTTAACCAGGGCAAGTTGGAATGCGCATGTATCAGAATTGGGGTTAAAGTCCGGCATCAGGATCTCGGAGTGAAGACTGCCAAAAATCATTTGCCAGGAGGTGAGCTCAGACATGAGACTCTGCCTCT... | benign | 101,880 |
Does the genetic variant at chromosome 5, position 141534374, impacting gene DIAPH1 (diaphanous related formin 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_1', 'Progressive_microcephaly-seizures-cortical_blindness-developmental_delay_syndrome'] | TGCTCAGCTAGTATTTTATGTTTTGTAGAGACAGGGGTCTTGCTTTGTTTCCCAGGCTGGTCTTGAACTCTTGGTCTCAAGCAATCTTCCCACCTCAGCTTCCTGCTGGGATTACAGGAATGTGCCACCATGCCCAGCCTCCTTAATTCCTTAATTGGTCTTTCAACTCAGTTTAAGTAGTACCTCCTTTAGAATATCTTCTGGGATTTGCCCCTCCAACACTGCCCCCACTTGATTTAGATCCCTCCCTTCCTAGTACTCTCATAAACATTCTAGCATACCTCCATCATAGCATTTATTAATCTGCACTGTTATCATCT... | TGCTCAGCTAGTATTTTATGTTTTGTAGAGACAGGGGTCTTGCTTTGTTTCCCAGGCTGGTCTTGAACTCTTGGTCTCAAGCAATCTTCCCACCTCAGCTTCCTGCTGGGATTACAGGAATGTGCCACCATGCCCAGCCTCCTTAATTCCTTAATTGGTCTTTCAACTCAGTTTAAGTAGTACCTCCTTTAGAATATCTTCTGGGATTTGCCCCTCCAACACTGCCCCCACTTGATTTAGATCCCTCCCTTCCTAGTACTCTCATAAACATTCTAGCATACCTCCATCATAGCATTTATTAATCTGCACTGTTATCATCT... | pathogenic | 101,891 |
Is the genetic mutation found on chromosome 5 at position 141573741, within the gene DIAPH1 (diaphanous related formin 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_1', 'Progressive_microcephaly-seizures-cortical_blindness-developmental_delay_syndrome'] | GTTATACTGATACAAAATACCTACATACAACAGTTCTCTTTCCCAAACCAAGTAACTCCATAATATTTAATACAAAAACATCTTTTCTTTCTTTTGAATGGGAAAATCCATCAGTCTTCCATCCAACATACCCTTTCTATCTTCACCCAGGGAAGGGAAGGGAATAGGAAACCTAATGAAAAAATATTCTAAGCCCTACACTGGACCTTTGCATCAAAGAGGAAGGTACTCACTCTTGGTCTGGGCAGAGAAGGTAAGGGTAAGTTTGGCGAAAAGTTCATTGTTCTCAAAGCGGTCCTCCTTCACCTTTGTCCAGAAGC... | GTTATACTGATACAAAATACCTACATACAACAGTTCTCTTTCCCAAACCAAGTAACTCCATAATATTTAATACAAAAACATCTTTTCTTTCTTTTGAATGGGAAAATCCATCAGTCTTCCATCCAACATACCCTTTCTATCTTCACCCAGGGAAGGGAAGGGAATAGGAAACCTAATGAAAAAATATTCTAAGCCCTACACTGGACCTTTGCATCAAAGAGGAAGGTACTCACTCTTGGTCTGGGCAGAGAAGGTAAGGGTAAGTTTGGCGAAAAGTTCATTGTTCTCAAAGCGGTCCTCCTTCACCTTTGTCCAGAAGC... | pathogenic | 101,899 |
Variant at chromosome position 141573996, chromosome 5, gene DIAPH1 (diaphanous related formin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AAGGGTAAGTTTGGCGAAAAGTTCATTGTTCTCAAAGCGGTCCTCCTTCACCTTTGTCCAGAAGCAGTCCTGGGAGAGGTCCTCAGCCACAAGCTGTGGATAAAGGCAGGGTGTTAAGAATTAGTAAACTGAGCCCTGTACTTTCCGTCCTAGAAAACGGATGAGGCTGTAAAATAGGTGGCTGGCTGATTATCAGCAATGTCTTACTAGAATAAGACTAACTTGAGGCACAGAATAGCTGCAGTGGGATTAGGAGAGAATACTTCCAGTTCATCTGTTAATTGGTGATTATTCAAGAACTAGATTCATATATATACTAC... | AAGGGTAAGTTTGGCGAAAAGTTCATTGTTCTCAAAGCGGTCCTCCTTCACCTTTGTCCAGAAGCAGTCCTGGGAGAGGTCCTCAGCCACAAGCTGTGGATAAAGGCAGGGTGTTAAGAATTAGTAAACTGAGCCCTGTACTTTCCGTCCTAGAAAACGGATGAGGCTGTAAAATAGGTGGCTGGCTGATTATCAGCAATGTCTTACTAGAATAAGACTAACTTGAGGCACAGAATAGCTGCAGTGGGATTAGGAGAGAATACTTCCAGTTCATCTGTTAATTGGTGATTATTCAAGAACTAGATTCATATATATACTAC... | benign | 101,906 |
Variant at chromosome position 141573996, chromosome 5, gene DIAPH1 (diaphanous related formin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AAGGGTAAGTTTGGCGAAAAGTTCATTGTTCTCAAAGCGGTCCTCCTTCACCTTTGTCCAGAAGCAGTCCTGGGAGAGGTCCTCAGCCACAAGCTGTGGATAAAGGCAGGGTGTTAAGAATTAGTAAACTGAGCCCTGTACTTTCCGTCCTAGAAAACGGATGAGGCTGTAAAATAGGTGGCTGGCTGATTATCAGCAATGTCTTACTAGAATAAGACTAACTTGAGGCACAGAATAGCTGCAGTGGGATTAGGAGAGAATACTTCCAGTTCATCTGTTAATTGGTGATTATTCAAGAACTAGATTCATATATATACTAC... | AAGGGTAAGTTTGGCGAAAAGTTCATTGTTCTCAAAGCGGTCCTCCTTCACCTTTGTCCAGAAGCAGTCCTGGGAGAGGTCCTCAGCCACAAGCTGTGGATAAAGGCAGGGTGTTAAGAATTAGTAAACTGAGCCCTGTACTTTCCGTCCTAGAAAACGGATGAGGCTGTAAAATAGGTGGCTGGCTGATTATCAGCAATGTCTTACTAGAATAAGACTAACTTGAGGCACAGAATAGCTGCAGTGGGATTAGGAGAGAATACTTCCAGTTCATCTGTTAATTGGTGATTATTCAAGAACTAGATTCATATATATACTAC... | benign | 101,907 |
A genetic alteration at chromosome 5, position 141573996, in gene DIAPH1 (diaphanous related formin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AAGGGTAAGTTTGGCGAAAAGTTCATTGTTCTCAAAGCGGTCCTCCTTCACCTTTGTCCAGAAGCAGTCCTGGGAGAGGTCCTCAGCCACAAGCTGTGGATAAAGGCAGGGTGTTAAGAATTAGTAAACTGAGCCCTGTACTTTCCGTCCTAGAAAACGGATGAGGCTGTAAAATAGGTGGCTGGCTGATTATCAGCAATGTCTTACTAGAATAAGACTAACTTGAGGCACAGAATAGCTGCAGTGGGATTAGGAGAGAATACTTCCAGTTCATCTGTTAATTGGTGATTATTCAAGAACTAGATTCATATATATACTAC... | AAGGGTAAGTTTGGCGAAAAGTTCATTGTTCTCAAAGCGGTCCTCCTTCACCTTTGTCCAGAAGCAGTCCTGGGAGAGGTCCTCAGCCACAAGCTGTGGATAAAGGCAGGGTGTTAAGAATTAGTAAACTGAGCCCTGTACTTTCCGTCCTAGAAAACGGATGAGGCTGTAAAATAGGTGGCTGGCTGATTATCAGCAATGTCTTACTAGAATAAGACTAACTTGAGGCACAGAATAGCTGCAGTGGGATTAGGAGAGAATACTTCCAGTTCATCTGTTAATTGGTGATTATTCAAGAACTAGATTCATATATATACTAC... | benign | 101,908 |
Mutation at chromosome 5, position 141573996, within DIAPH1 (diaphanous related formin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AAGGGTAAGTTTGGCGAAAAGTTCATTGTTCTCAAAGCGGTCCTCCTTCACCTTTGTCCAGAAGCAGTCCTGGGAGAGGTCCTCAGCCACAAGCTGTGGATAAAGGCAGGGTGTTAAGAATTAGTAAACTGAGCCCTGTACTTTCCGTCCTAGAAAACGGATGAGGCTGTAAAATAGGTGGCTGGCTGATTATCAGCAATGTCTTACTAGAATAAGACTAACTTGAGGCACAGAATAGCTGCAGTGGGATTAGGAGAGAATACTTCCAGTTCATCTGTTAATTGGTGATTATTCAAGAACTAGATTCATATATATACTAC... | AAGGGTAAGTTTGGCGAAAAGTTCATTGTTCTCAAAGCGGTCCTCCTTCACCTTTGTCCAGAAGCAGTCCTGGGAGAGGTCCTCAGCCACAAGCTGTGGATAAAGGCAGGGTGTTAAGAATTAGTAAACTGAGCCCTGTACTTTCCGTCCTAGAAAACGGATGAGGCTGTAAAATAGGTGGCTGGCTGATTATCAGCAATGTCTTACTAGAATAAGACTAACTTGAGGCACAGAATAGCTGCAGTGGGATTAGGAGAGAATACTTCCAGTTCATCTGTTAATTGGTGATTATTCAAGAACTAGATTCATATATATACTAC... | benign | 101,909 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 141576299, gene DIAPH1 (diaphanous related formin 1). What disease(s) is it linked to if pathogenic? | benign | AGGGACTACTGGGACTGGAAGGAACCTAATAAACTACTTAATCCAAACTTCTCATGTTACAAATGGAGGAACTGAGAGGAGTCAGAGAGATGACATGATCACCTAAAGTCACACGGCTTGGCAGCAGAGCCAAAACTAGAATTCAGGTTTTCATGTTCTTAGTTCAGCATGCTTTGTATTAAGAAGACAATTTCAACCTTTATGTTAAACCCTCCCTTGATTAGAAAATGTAAAGGTCAAGTAAATTAAATGTTCTAGTTATATAACTAATATATGTGCTACACAGATGATTATATAACCACATAAGTAATCAAGTTATC... | AGGGACTACTGGGACTGGAAGGAACCTAATAAACTACTTAATCCAAACTTCTCATGTTACAAATGGAGGAACTGAGAGGAGTCAGAGAGATGACATGATCACCTAAAGTCACACGGCTTGGCAGCAGAGCCAAAACTAGAATTCAGGTTTTCATGTTCTTAGTTCAGCATGCTTTGTATTAAGAAGACAATTTCAACCTTTATGTTAAACCCTCCCTTGATTAGAAAATGTAAAGGTCAAGTAAATTAAATGTTCTAGTTATATAACTAATATATGTGCTACACAGATGATTATATAACCACATAAGTAATCAAGTTATC... | benign | 101,916 |
Clinical significance of chromosome 5, position 141577622, gene DIAPH1 (diaphanous related formin 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AGGAGACAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAAAAAACAAATAAAAATAAAAATGAAAATAAAACAAGGTTAAAGGAGAGGGGAATCAGTTCATTTCCACAGATTCCCTATTTTTATAGTTAAAAAAAATAAGATTTTAAAGGTATTTAACGAGGACGACCATGGTAGTACAATCCCAATATTCTCTAGGATCAAAAACCTATTAACCACAATAAACGTTCTTAAAAACTGAAGAGAAAAAGAGAACTCAGACATCCTCTAGTTCTATTGCT... | AGGAGACAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAAAAAACAAATAAAAATAAAAATGAAAATAAAACAAGGTTAAAGGAGAGGGGAATCAGTTCATTTCCACAGATTCCCTATTTTTATAGTTAAAAAAAATAAGATTTTAAAGGTATTTAACGAGGACGACCATGGTAGTACAATCCCAATATTCTCTAGGATCAAAAACCTATTAACCACAATAAACGTTCTTAAAAACTGAAGAGAAAAAGAGAACTCAGACATCCTCTAGTTCTATTGCT... | benign | 101,920 |
Considering the genetic mutation at chromosome 5, position 141945390, impacting PCDH12 (protocadherin 12): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGAATGATGCAATGGTCCCATGTGTCTAGTGATCCAGTTGCCAGCTATAGCTCCAGCTTCCTCAGGTCATCTCCCCCTGCCCACTCTCTTCTCTCCACCCTCCCAACATCTGCTCTGCACTGAAAATCTGCTGGTAACTGGGAGGTCACCATGGTCTACTCCAGTACTGTGGTTCTCAGACTTTGCTTTTACATCACAGAGTCTTTTTTTCTAATGAAGTCCTACCTGGAGCTCCAATATGGATAAAAGGGGCCTCTGAAGCATTTATTGACACATTTATTCATTCATACATCCATTCAACAGCTATTCATCAAGTGTTG... | AGAATGATGCAATGGTCCCATGTGTCTAGTGATCCAGTTGCCAGCTATAGCTCCAGCTTCCTCAGGTCATCTCCCCCTGCCCACTCTCTTCTCTCCACCCTCCCAACATCTGCTCTGCACTGAAAATCTGCTGGTAACTGGGAGGTCACCATGGTCTACTCCAGTACTGTGGTTCTCAGACTTTGCTTTTACATCACAGAGTCTTTTTTTCTAATGAAGTCCTACCTGGAGCTCCAATATGGATAAAAGGGGCCTCTGAAGCATTTATTGACACATTTATTCATTCATACATCCATTCAACAGCTATTCATCAAGTGTTG... | benign | 101,937 |
Evaluate if the mutation on chromosome 5 at position 141945390 in PCDH12 (protocadherin 12) is benign or pathogenic. Disease name(s) if pathogenic? | benign | AGAATGATGCAATGGTCCCATGTGTCTAGTGATCCAGTTGCCAGCTATAGCTCCAGCTTCCTCAGGTCATCTCCCCCTGCCCACTCTCTTCTCTCCACCCTCCCAACATCTGCTCTGCACTGAAAATCTGCTGGTAACTGGGAGGTCACCATGGTCTACTCCAGTACTGTGGTTCTCAGACTTTGCTTTTACATCACAGAGTCTTTTTTTCTAATGAAGTCCTACCTGGAGCTCCAATATGGATAAAAGGGGCCTCTGAAGCATTTATTGACACATTTATTCATTCATACATCCATTCAACAGCTATTCATCAAGTGTTG... | AGAATGATGCAATGGTCCCATGTGTCTAGTGATCCAGTTGCCAGCTATAGCTCCAGCTTCCTCAGGTCATCTCCCCCTGCCCACTCTCTTCTCTCCACCCTCCCAACATCTGCTCTGCACTGAAAATCTGCTGGTAACTGGGAGGTCACCATGGTCTACTCCAGTACTGTGGTTCTCAGACTTTGCTTTTACATCACAGAGTCTTTTTTTCTAATGAAGTCCTACCTGGAGCTCCAATATGGATAAAAGGGGCCTCTGAAGCATTTATTGACACATTTATTCATTCATACATCCATTCAACAGCTATTCATCAAGTGTTG... | benign | 101,938 |
Mutation at chromosome 5, position 141957182, within RNF14: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Diencephalic-mesencephalic_junction_dysplasia_syndrome_1'] | GGAGGCTGGTGGCCTCTGTGGGGCTTCCTCACTGCCCTGGTCTCCAGCCAGCCTCCCTGTGGGGCTGCCTGCAACCTTCAGAGGCCTGGAACGTGGCTGGCCTGTGGCAGGCTGGGGCTCGGGAAGGTTCAGGTTCTCCCGGGAGGCATTCCTCTGCCTGGGATGGTTGAAAAGGAGGTTGACCGTGTCTTGCAGCACCTCTCGGCTCTCCGCCGGTGCTCCCTGGTTGCCTTGATTACGCAGCGTCCTGTACAGGGTCGGGGTGAGGTGGAAGGGGGCCTGCAGGCAGGGGTCCCAGCCTGCTTCCATCATCGCCTCCT... | GGAGGCTGGTGGCCTCTGTGGGGCTTCCTCACTGCCCTGGTCTCCAGCCAGCCTCCCTGTGGGGCTGCCTGCAACCTTCAGAGGCCTGGAACGTGGCTGGCCTGTGGCAGGCTGGGGCTCGGGAAGGTTCAGGTTCTCCCGGGAGGCATTCCTCTGCCTGGGATGGTTGAAAAGGAGGTTGACCGTGTCTTGCAGCACCTCTCGGCTCTCCGCCGGTGCTCCCTGGTTGCCTTGATTACGCAGCGTCCTGTACAGGGTCGGGGTGAGGTGGAAGGGGGCCTGCAGGCAGGGGTCCCAGCCTGCTTCCATCATCGCCTCCT... | pathogenic | 101,959 |
Does the genetic variant at chromosome 5, position 141957542, impacting gene RNF14, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic | ACCTGCCTGACCCCTGAGCACAGGCACGAGGTGGATGTCTGCCTTCTGAATGTGTTTCTGGGGCCTCTTGGGCTGCTGGCGGTAGGTGGACTCGGCCTCCCGACAGTTGTAGGCCCTGTTGTCCTTCTTTTCTGTCCGGCAGATGGACATGAACAAAGCCAGGATCAACCCGAAGATGCCCAACAGTACAGCCAGGCAGATCACCGTCAGCATCGACATGCTCAAGGCCCCAGGCTTGCGGGCTGAGTCCCTCAGGTGGTCCACACTGGTGACAAACATGACCCTCAACAGGGCTCGGGTCTGTAAGGGGGGGCTTCCCT... | ACCTGCCTGACCCCTGAGCACAGGCACGAGGTGGATGTCTGCCTTCTGAATGTGTTTCTGGGGCCTCTTGGGCTGCTGGCGGTAGGTGGACTCGGCCTCCCGACAGTTGTAGGCCCTGTTGTCCTTCTTTTCTGTCCGGCAGATGGACATGAACAAAGCCAGGATCAACCCGAAGATGCCCAACAGTACAGCCAGGCAGATCACCGTCAGCATCGACATGCTCAAGGCCCCAGGCTTGCGGGCTGAGTCCCTCAGGTGGTCCACACTGGTGACAAACATGACCCTCAACAGGGCTCGGGTCTGTAAGGGGGGGCTTCCCT... | pathogenic | 101,961 |
Does the variant impacting NR3C1 (nuclear receptor subfamily 3 group C member 1) on chromosome 5, position 143300770, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TATGATCTCCACCCCAGAGCAAATGCCATAAGAAACATCCAGGAGTACTGCAGTAGGGTCATTTGGTCATCCAGGTGTAAGTTCCTGAAACCTGAATTAAGAGAAATAAAGGTATGAGGCAACACTCTTCAGAAGATCATCTCTGTGGGAATTGCCAAGGAGCAATGAGATCAATTAGCCCTGTCAAAACAAGGGCACCCCTAACAGAAAATGGAAATTAAATACTAGGTAGACACAGTTTTCTTCTGTCATCTGACACTTTAAGACTCACAAACCCTCTTGTGTTTTTTTTTTTTTTTTTTTTTTTAATTGAGACAAAG... | TATGATCTCCACCCCAGAGCAAATGCCATAAGAAACATCCAGGAGTACTGCAGTAGGGTCATTTGGTCATCCAGGTGTAAGTTCCTGAAACCTGAATTAAGAGAAATAAAGGTATGAGGCAACACTCTTCAGAAGATCATCTCTGTGGGAATTGCCAAGGAGCAATGAGATCAATTAGCCCTGTCAAAACAAGGGCACCCCTAACAGAAAATGGAAATTAAATACTAGGTAGACACAGTTTTCTTCTGTCATCTGACACTTTAAGACTCACAAACCCTCTTGTGTTTTTTTTTTTTTTTTTTTTTTTAATTGAGACAAAG... | benign | 101,979 |
Considering the variant on chromosome 5, location 146129125, involving gene LARS1 (leucyl-tRNA synthetase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TTCATTTCTTTCTACAAATATTAACGGTCCCCTCAATAGAGTGAGAAATAAAGCAACTGGTCTTTTCAAAGTTTTGGGCAACTTGTTTTCTCTTTATTGTAAAAGAAGGGTTGGGAATGAATCTAAATGAAAAGGAACATATAATACAATTTCAAATAATCTATTTTCAATTCTAACTTTTACTAAAGTACATGGGAAAAAAATATTCTACTTGTTAATATATTCCTCTGAAACACACGAAAAAGAAAAAGGGTGGGAAACACTCCTTTGCCTTATGTCACCAAAATGGTGCCACATTCAACATAAGAACACTCTTCGTG... | TTCATTTCTTTCTACAAATATTAACGGTCCCCTCAATAGAGTGAGAAATAAAGCAACTGGTCTTTTCAAAGTTTTGGGCAACTTGTTTTCTCTTTATTGTAAAAGAAGGGTTGGGAATGAATCTAAATGAAAAGGAACATATAATACAATTTCAAATAATCTATTTTCAATTCTAACTTTTACTAAAGTACATGGGAAAAAAATATTCTACTTGTTAATATATTCCTCTGAAACACACGAAAAAGAAAAAGGGTGGGAAACACTCCTTTGCCTTATGTCACCAAAATGGTGCCACATTCAACATAAGAACACTCTTCGTG... | benign | 102,011 |
Is the genetic variant on chromosome 5, position 146172006, gene LARS1 (leucyl-tRNA synthetase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GTGATACAATGGTAAGTTAATACCTCAACAATGAAGTATTCTTGTCAAAATATTTAGCCCAACCCTAATCATGAAAAAACAATCAGAAAACTCATATCATAGGACATTCTACAAAATAACTAGCTTAGACTTCAAAAACATCAATATCACGACAAACAACTAAAAGACAGTGAAAAGAATGGATAATTACATGCAATGTGTGCTCCACAAAATAAAAAGTGAAAAACAGCAGGGCATAGTGGGTCAAGCCTGTAATCTCAGCACTGTGGGAAGCCAAGGCAGGCGGATCACCTAAGGTCAGGAGTTCGAGACCAGCCTGC... | GTGATACAATGGTAAGTTAATACCTCAACAATGAAGTATTCTTGTCAAAATATTTAGCCCAACCCTAATCATGAAAAAACAATCAGAAAACTCATATCATAGGACATTCTACAAAATAACTAGCTTAGACTTCAAAAACATCAATATCACGACAAACAACTAAAAGACAGTGAAAAGAATGGATAATTACATGCAATGTGTGCTCCACAAAATAAAAAGTGAAAAACAGCAGGGCATAGTGGGTCAAGCCTGTAATCTCAGCACTGTGGGAAGCCAAGGCAGGCGGATCACCTAAGGTCAGGAGTTCGAGACCAGCCTGC... | benign | 102,055 |
Does the variant impacting SPINK1 (serine peptidase inhibitor Kazal type 1) on chromosome 5, position 147824771, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AATTATTTAATTTCTGTTTATCATGGCAAAGGTCCTTAATATTAGGGATGTCCTTCGAGTGTCCTCTAGCATCACAGACAAGTTGTTGGAAGCCATCTTGCATCCATAACTGCTGTTAGAGTGATATTTAATGAGAGCTGTTAGACGGCGGTTTGGCTGAGGCACTTGGCAGACTACAGCATCCTCTAGTGGTCAGATTTAAACCTCAAGACGTGTATATTCTGAATATCACAAGAAATTAACCTAAACCTTAGAGTGTCAGGCAACTGTGTTTGGCAAGTGTGCAATAGCTTTTGACTGATTATTTCTGATTCAATGGG... | AATTATTTAATTTCTGTTTATCATGGCAAAGGTCCTTAATATTAGGGATGTCCTTCGAGTGTCCTCTAGCATCACAGACAAGTTGTTGGAAGCCATCTTGCATCCATAACTGCTGTTAGAGTGATATTTAATGAGAGCTGTTAGACGGCGGTTTGGCTGAGGCACTTGGCAGACTACAGCATCCTCTAGTGGTCAGATTTAAACCTCAAGACGTGTATATTCTGAATATCACAAGAAATTAACCTAAACCTTAGAGTGTCAGGCAACTGTGTTTGGCAAGTGTGCAATAGCTTTTGACTGATTATTTCTGATTCAATGGG... | benign | 102,076 |
Clinical significance of chromosome 5, position 147831550, gene SPINK1 (serine peptidase inhibitor Kazal type 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_pancreatitis'] | AACTTCAGGCTAAACTGAAAGGTGACAGCAAGGCTGCATTTTTGTTGGATCAAACTGTTCCAGTCTGAGAAATAAGAAATTACAAATATCTCTTTACCTCTCTTCCCAGGGAGTCAGCTCCAGTGTTACCTAGAAATAAATCAGATATGGTAAGTTGGGTCCTAAATGAAAGAAGTCAGATCTATTCTTCATCAGAATTCTCTGCTTTCATTGCAGACTGTGACTTCTTTACTAGGCTCTTTCATTCCCCACCCTTTCTGATTTCTCTAATCTTCCAAAAGTATCTGACTGATTTTCCTGTACCCCTTCCTTGGCAAAAC... | AACTTCAGGCTAAACTGAAAGGTGACAGCAAGGCTGCATTTTTGTTGGATCAAACTGTTCCAGTCTGAGAAATAAGAAATTACAAATATCTCTTTACCTCTCTTCCCAGGGAGTCAGCTCCAGTGTTACCTAGAAATAAATCAGATATGGTAAGTTGGGTCCTAAATGAAAGAAGTCAGATCTATTCTTCATCAGAATTCTCTGCTTTCATTGCAGACTGTGACTTCTTTACTAGGCTCTTTCATTCCCCACCCTTTCTGATTTCTCTAATCTTCCAAAAGTATCTGACTGATTTTCCTGTACCCCTTCCTTGGCAAAAC... | pathogenic | 102,094 |
Mutation found at chromosome 5 position 148086434, gene SPINK5 (serine peptidase inhibitor Kazal type 5): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Ichthyosis_linearis_circumflexa'] | TCTCAGGCATTGTCAACATTAGGAAGAGGTGTTTTCTGTAGGTTGTGATCCACCACCTAGGGGTTTGGAGGGGAAGGAGATGGAGTCATATATCCTTGCGCCTGTTTTCATCATCCCCCAGCTGGCCTTTTGACTTGCTCTGTCATTCCCCTCTCTACACCTGTGACCTAGTTAGTACGTTGCTGTTGATTTTCTGGGGAAGGGGGATAGTAGTGATTGTTTTGAGTTAATTACTTTGATCTGTAATTTCCCTATGCTTCTGTAGTATCTTCAGGAATGATTTTTGAGAGAAAACCAAGAGCCATCCTGCTTTTTCTTTA... | TCTCAGGCATTGTCAACATTAGGAAGAGGTGTTTTCTGTAGGTTGTGATCCACCACCTAGGGGTTTGGAGGGGAAGGAGATGGAGTCATATATCCTTGCGCCTGTTTTCATCATCCCCCAGCTGGCCTTTTGACTTGCTCTGTCATTCCCCTCTCTACACCTGTGACCTAGTTAGTACGTTGCTGTTGATTTTCTGGGGAAGGGGGATAGTAGTGATTGTTTTGAGTTAATTACTTTGATCTGTAATTTCCCTATGCTTCTGTAGTATCTTCAGGAATGATTTTTGAGAGAAAACCAAGAGCCATCCTGCTTTTTCTTTA... | pathogenic | 102,109 |
Does the variant impacting SPINK5 (serine peptidase inhibitor Kazal type 5) on chromosome 5, position 148086510, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ichthyosis_linearis_circumflexa', 'Netherton_syndrome'] | GAGATGGAGTCATATATCCTTGCGCCTGTTTTCATCATCCCCCAGCTGGCCTTTTGACTTGCTCTGTCATTCCCCTCTCTACACCTGTGACCTAGTTAGTACGTTGCTGTTGATTTTCTGGGGAAGGGGGATAGTAGTGATTGTTTTGAGTTAATTACTTTGATCTGTAATTTCCCTATGCTTCTGTAGTATCTTCAGGAATGATTTTTGAGAGAAAACCAAGAGCCATCCTGCTTTTTCTTTATGCTTCGGTCACATTTCCCTTCTTTCTGTCCATTCCTTAAAAAGGACAGTCTAGTTTCCACCACAAATCCTTTGCA... | GAGATGGAGTCATATATCCTTGCGCCTGTTTTCATCATCCCCCAGCTGGCCTTTTGACTTGCTCTGTCATTCCCCTCTCTACACCTGTGACCTAGTTAGTACGTTGCTGTTGATTTTCTGGGGAAGGGGGATAGTAGTGATTGTTTTGAGTTAATTACTTTGATCTGTAATTTCCCTATGCTTCTGTAGTATCTTCAGGAATGATTTTTGAGAGAAAACCAAGAGCCATCCTGCTTTTTCTTTATGCTTCGGTCACATTTCCCTTCTTTCTGTCCATTCCTTAAAAAGGACAGTCTAGTTTCCACCACAAATCCTTTGCA... | pathogenic | 102,111 |
Is the genetic mutation found on chromosome 5 at position 148094377, within the gene SPINK5 (serine peptidase inhibitor Kazal type 5), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Netherton_syndrome'] | CAGAACCATCTACAGTTTATGCAACACTTGCCAAGGATTGAAAAGGAATTCTTTTGTGGTGGTTGTTAAATTTCAGTCTAAAACTTTGGGTCATCCTGTGATAGTTAACATTTTATTACTTCATAAACACAGAGAGTTATTTTCCTTTGTTTTTCATTAGGTCTCTGTACTTCCCTCTTCCTCTCTGTGGCTAGGGTCATTGTTTTGGTGGGGTCACCGGGCATGATGGTGTGAATAGGACTGCTTTATTGTGATGGCTCAATATGTTCCCTATAATTAACTTGTCACTAGGTTGCAAACACAGTGTTTCTTCAGAATCT... | CAGAACCATCTACAGTTTATGCAACACTTGCCAAGGATTGAAAAGGAATTCTTTTGTGGTGGTTGTTAAATTTCAGTCTAAAACTTTGGGTCATCCTGTGATAGTTAACATTTTATTACTTCATAAACACAGAGAGTTATTTTCCTTTGTTTTTCATTAGGTCTCTGTACTTCCCTCTTCCTCTCTGTGGCTAGGGTCATTGTTTTGGTGGGGTCACCGGGCATGATGGTGTGAATAGGACTGCTTTATTGTGATGGCTCAATATGTTCCCTATAATTAACTTGTCACTAGGTTGCAAACACAGTGTTTCTTCAGAATCT... | pathogenic | 102,120 |
Chromosome 5, position 148095872, gene SPINK5 (serine peptidase inhibitor Kazal type 5): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ichthyosis_linearis_circumflexa', 'Netherton_syndrome'] | TTTTAATAAACCTACCACATAACAGATACAAGTGCCAAGTAGTTGACAATATAATTACTGTTTCTTAGTAATCCTCATTAATATGTTGTATGTATTTGCCAACTTCTAGACCTGATGTTTTGTGGTAATAAATCTATTATAAAGTTTCCAGATTAAAACGTAGAAAAATGGTAAATAAAATTACTTGTTGGCTGGATGTGTTGGTTCATGCCTATAATTTCAACACTTTGGGAGGCCAAGGCAGGAAGATTACTTGAGCCAAGGAATTCAAGACCAGCCCGGGCAACATGATGAGATCCAGTCTCTACCAAAAAGGAAAA... | TTTTAATAAACCTACCACATAACAGATACAAGTGCCAAGTAGTTGACAATATAATTACTGTTTCTTAGTAATCCTCATTAATATGTTGTATGTATTTGCCAACTTCTAGACCTGATGTTTTGTGGTAATAAATCTATTATAAAGTTTCCAGATTAAAACGTAGAAAAATGGTAAATAAAATTACTTGTTGGCTGGATGTGTTGGTTCATGCCTATAATTTCAACACTTTGGGAGGCCAAGGCAGGAAGATTACTTGAGCCAAGGAATTCAAGACCAGCCCGGGCAACATGATGAGATCCAGTCTCTACCAAAAAGGAAAA... | pathogenic | 102,126 |
Considering the variant on chromosome 5, location 148095950, involving gene SPINK5 (serine peptidase inhibitor Kazal type 5), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TAATATGTTGTATGTATTTGCCAACTTCTAGACCTGATGTTTTGTGGTAATAAATCTATTATAAAGTTTCCAGATTAAAACGTAGAAAAATGGTAAATAAAATTACTTGTTGGCTGGATGTGTTGGTTCATGCCTATAATTTCAACACTTTGGGAGGCCAAGGCAGGAAGATTACTTGAGCCAAGGAATTCAAGACCAGCCCGGGCAACATGATGAGATCCAGTCTCTACCAAAAAGGAAAAAATTTAGCCGGGTGTGGTGGTGCATGTCTGTAGTCCCATTTAGTTAGGAAGCTGAGGTGGAAGGATCTCTGAGCCTAG... | TAATATGTTGTATGTATTTGCCAACTTCTAGACCTGATGTTTTGTGGTAATAAATCTATTATAAAGTTTCCAGATTAAAACGTAGAAAAATGGTAAATAAAATTACTTGTTGGCTGGATGTGTTGGTTCATGCCTATAATTTCAACACTTTGGGAGGCCAAGGCAGGAAGATTACTTGAGCCAAGGAATTCAAGACCAGCCCGGGCAACATGATGAGATCCAGTCTCTACCAAAAAGGAAAAAATTTAGCCGGGTGTGGTGGTGCATGTCTGTAGTCCCATTTAGTTAGGAAGCTGAGGTGGAAGGATCTCTGAGCCTAG... | benign | 102,129 |
Regarding the variant found on chromosome 5 at position 148097788 in gene SPINK5 (serine peptidase inhibitor Kazal type 5): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTTTCCATCTATACCTAATGACTGTTTTGTAACATGAAGATCGGAAGCATCTCTACTCATTTATTTTACTTTTTCCAGCAAGCAGCGTTTTTCAGAGGAAAACAGTAAAACAGATCAAAATTTGGGAAAAGCTGAAGAAAAAACTAAAGTTAAAAGAGAAATTGTGGTGAGAATCAGTTTGATCAATCTAGTTACAACTTGTGTGTGTGTGGGGGGGTGCGTGTGTGAGAGAGTGCATATTACATAGTATGCACTTTCAATATTGTTTAATATTTTCCACACTACTAGTAGGTTTGCTGGAAACTAATTTCTAGTTATTA... | TTTTCCATCTATACCTAATGACTGTTTTGTAACATGAAGATCGGAAGCATCTCTACTCATTTATTTTACTTTTTCCAGCAAGCAGCGTTTTTCAGAGGAAAACAGTAAAACAGATCAAAATTTGGGAAAAGCTGAAGAAAAAACTAAAGTTAAAAGAGAAATTGTGGTGAGAATCAGTTTGATCAATCTAGTTACAACTTGTGTGTGTGTGGGGGGGTGCGTGTGTGAGAGAGTGCATATTACATAGTATGCACTTTCAATATTGTTTAATATTTTCCACACTACTAGTAGGTTTGCTGGAAACTAATTTCTAGTTATTA... | benign | 102,130 |
A genetic variant on chromosome 5, position 148104902, affects the gene SPINK5 (serine peptidase inhibitor Kazal type 5). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GACAAGAATGGAGATTTTATTATGTAGGAGTTGGGAGCCTATTGATAGGGTGCCTAAAATAGGTCTTTAGGATGAATGTCATGGTATGGCCGGCCCTTCAAAAACGTGACTAGGCTTTTCTTAAACTCTTGATTTTTGACTAAAAAAACCCCCATTTTATTTCCCATGTGCCAAGAATCTTAGAAAGGACTTAATTTATTTAGTCTTCCCATATAGAAAGCAATATAATCCAGCATATTTTCCCATAGCATTTGAGGCTTGGAGCACTAAAAATCTATTAGAAGGAAAGTTGAGATCATGACCATATAATTATCACAACA... | GACAAGAATGGAGATTTTATTATGTAGGAGTTGGGAGCCTATTGATAGGGTGCCTAAAATAGGTCTTTAGGATGAATGTCATGGTATGGCCGGCCCTTCAAAAACGTGACTAGGCTTTTCTTAAACTCTTGATTTTTGACTAAAAAAACCCCCATTTTATTTCCCATGTGCCAAGAATCTTAGAAAGGACTTAATTTATTTAGTCTTCCCATATAGAAAGCAATATAATCCAGCATATTTTCCCATAGCATTTGAGGCTTGGAGCACTAAAAATCTATTAGAAGGAAAGTTGAGATCATGACCATATAATTATCACAACA... | benign | 102,155 |
Evaluate the clinical significance of the mutation at chromosome 5, position 148107255 in gene SPINK5 (serine peptidase inhibitor Kazal type 5): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ATTTCATAAAAAGTGGAATGTTAACTTTTTGTAAGGAATTTTCCCCATATTTGGCTTTTATTAGATTTCTGTTGTTAGAGTATTAACTTATGCCATTTACTAATTTCAATTTACATTATTCATATCTCTGTTATTTCAAATAGAGAGTATAAGATCTCAATCATTCCAATTTACAAAACGAAAGCACATATATTATCATATTTGAGCTTTGTCACCACCCAGCTATGGAGCAAGTGGTGGTTTTCTTGCACCCAATTAAGATTATTAAGTTGGGCCTCTGACTTTCCAGTTATTTTTATTCCACTCTCCATGCTTTTATA... | ATTTCATAAAAAGTGGAATGTTAACTTTTTGTAAGGAATTTTCCCCATATTTGGCTTTTATTAGATTTCTGTTGTTAGAGTATTAACTTATGCCATTTACTAATTTCAATTTACATTATTCATATCTCTGTTATTTCAAATAGAGAGTATAAGATCTCAATCATTCCAATTTACAAAACGAAAGCACATATATTATCATATTTGAGCTTTGTCACCACCCAGCTATGGAGCAAGTGGTGGTTTTCTTGCACCCAATTAAGATTATTAAGTTGGGCCTCTGACTTTCCAGTTATTTTTATTCCACTCTCCATGCTTTTATA... | benign | 102,164 |
Does the variant impacting SPINK5 (serine peptidase inhibitor Kazal type 5) on chromosome 5, position 148116440, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CAAAATGGAAAACTTTTCTGCACAAGAGAAAATGATCCTGTGCGTGGCCCAGATGGCAAGACCCATGGCAACAAGTGTGCCATGTGTAAGGCAGTCTTGTGAGTGCACAAAGAAAACCACTACTGTGGGATGGTGGAATTGGGGAAGCAATGAGCCAGGCAAATAATATGTATTGTGTTTGTCCTTTCCTTACATGTAATAGAAACAGAAGGTTATCTGTAAAGCATTTGAAATAAATCTTTTCTTTATAATGGCCAAGATTCACAGTTCTAGAAATAAAATAAATACAACTAAGCTATTACATTCTCTGTTAGTTCTGG... | CAAAATGGAAAACTTTTCTGCACAAGAGAAAATGATCCTGTGCGTGGCCCAGATGGCAAGACCCATGGCAACAAGTGTGCCATGTGTAAGGCAGTCTTGTGAGTGCACAAAGAAAACCACTACTGTGGGATGGTGGAATTGGGGAAGCAATGAGCCAGGCAAATAATATGTATTGTGTTTGTCCTTTCCTTACATGTAATAGAAACAGAAGGTTATCTGTAAAGCATTTGAAATAAATCTTTTCTTTATAATGGCCAAGATTCACAGTTCTAGAAATAAAATAAATACAACTAAGCTATTACATTCTCTGTTAGTTCTGG... | benign | 102,177 |
Determine if the mutation at chromosome 5, position 148119003 in gene SPINK5 (serine peptidase inhibitor Kazal type 5) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Ichthyosis_linearis_circumflexa', 'Netherton_syndrome'] | ACTTTCCCTGATTTAGCAGTACTCTTCCAGGGATAAAAGAAAATAATTTAGGCAAAGGTTTAGCATGTTTCTTGAGGCATTTTTAAGTGTCAGCATGGCAATGTTGCACATAAGGTCACTCCTTGGGTCTCTGAACACAGTTTCATAAAATTGCAGTCGCCTTATTTATCTTTTTACAACCTTGGAATATCAAAACCATGTCTTCACTTCCAGATCTGACAAAGGCCCAATATTTACCTTTGATAAACTCTGGCTATTCTGTTTTTTTCCCATCTTTTTTGCTTTAGGAGGCTGAGTTCTCCCTTTTAAGGAATAGCCCT... | ACTTTCCCTGATTTAGCAGTACTCTTCCAGGGATAAAAGAAAATAATTTAGGCAAAGGTTTAGCATGTTTCTTGAGGCATTTTTAAGTGTCAGCATGGCAATGTTGCACATAAGGTCACTCCTTGGGTCTCTGAACACAGTTTCATAAAATTGCAGTCGCCTTATTTATCTTTTTACAACCTTGGAATATCAAAACCATGTCTTCACTTCCAGATCTGACAAAGGCCCAATATTTACCTTTGATAAACTCTGGCTATTCTGTTTTTTTCCCATCTTTTTTGCTTTAGGAGGCTGAGTTCTCCCTTTTAAGGAATAGCCCT... | pathogenic | 102,185 |
Variant chromosome 5, position 148120311, gene SPINK5 (serine peptidase inhibitor Kazal type 5): benign or pathogenic? Disease(s)? | pathogenic; ['Ichthyosis_linearis_circumflexa', 'Netherton_syndrome'] | CATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCGGCAATGTTATGTTTCTTATAAAGAGAGGTGAAAGAACTTCTCTTACTCAGACTGTTAAAACAATTTACTAAGAATACAGTAGACTAAGTAATCCAGGGGCTCTTCGTTCTTCTCTGTTTTCAGGACGAATGTGCTGAGTATCGGGAACAAATGAAAAATGGAAGACTCAGCTGTACTCGGGAGAGTGATCCTGTACGTGATGCTGATGGCAAATCGTACAACAATCAGTGTACCATGTGTAAAGCAAAATTGTAAGTATTTCTCTCAAC... | CATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCGGCAATGTTATGTTTCTTATAAAGAGAGGTGAAAGAACTTCTCTTACTCAGACTGTTAAAACAATTTACTAAGAATACAGTAGACTAAGTAATCCAGGGGCTCTTCGTTCTTCTCTGTTTTCAGGACGAATGTGCTGAGTATCGGGAACAAATGAAAAATGGAAGACTCAGCTGTACTCGGGAGAGTGATCCTGTACGTGATGCTGATGGCAAATCGTACAACAATCAGTGTACCATGTGTAAAGCAAAATTGTAAGTATTTCTCTCAAC... | pathogenic | 102,196 |
Variant chromosome 5, position 148120311, gene SPINK5 (serine peptidase inhibitor Kazal type 5): benign or pathogenic? Disease(s)? | pathogenic; ['Ichthyosis_linearis_circumflexa', 'Netherton_syndrome'] | CATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCGGCAATGTTATGTTTCTTATAAAGAGAGGTGAAAGAACTTCTCTTACTCAGACTGTTAAAACAATTTACTAAGAATACAGTAGACTAAGTAATCCAGGGGCTCTTCGTTCTTCTCTGTTTTCAGGACGAATGTGCTGAGTATCGGGAACAAATGAAAAATGGAAGACTCAGCTGTACTCGGGAGAGTGATCCTGTACGTGATGCTGATGGCAAATCGTACAACAATCAGTGTACCATGTGTAAAGCAAAATTGTAAGTATTTCTCTCAAC... | CATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCGGCAATGTTATGTTTCTTATAAAGAGAGGTGAAAGAACTTCTCTTACTCAGACTGTTAAAACAATTTACTAAGAATACAGTAGACTAAGTAATCCAGGGGCTCTTCGTTCTTCTCTGTTTTCAGGACGAATGTGCTGAGTATCGGGAACAAATGAAAAATGGAAGACTCAGCTGTACTCGGGAGAGTGATCCTGTACGTGATGCTGATGGCAAATCGTACAACAATCAGTGTACCATGTGTAAAGCAAAATTGTAAGTATTTCTCTCAAC... | pathogenic | 102,197 |
For chromosome 5, position 148120318, gene SPINK5 (serine peptidase inhibitor Kazal type 5): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Ichthyosis_linearis_circumflexa', 'Netherton_syndrome'] | GCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCGGCAATGTTATGTTTCTTATAAAGAGAGGTGAAAGAACTTCTCTTACTCAGACTGTTAAAACAATTTACTAAGAATACAGTAGACTAAGTAATCCAGGGGCTCTTCGTTCTTCTCTGTTTTCAGGACGAATGTGCTGAGTATCGGGAACAAATGAAAAATGGAAGACTCAGCTGTACTCGGGAGAGTGATCCTGTACGTGATGCTGATGGCAAATCGTACAACAATCAGTGTACCATGTGTAAAGCAAAATTGTAAGTATTTCTCTCAACAGGCATG... | GCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCGGCAATGTTATGTTTCTTATAAAGAGAGGTGAAAGAACTTCTCTTACTCAGACTGTTAAAACAATTTACTAAGAATACAGTAGACTAAGTAATCCAGGGGCTCTTCGTTCTTCTCTGTTTTCAGGACGAATGTGCTGAGTATCGGGAACAAATGAAAAATGGAAGACTCAGCTGTACTCGGGAGAGTGATCCTGTACGTGATGCTGATGGCAAATCGTACAACAATCAGTGTACCATGTGTAAAGCAAAATTGTAAGTATTTCTCTCAACAGGCATG... | pathogenic | 102,198 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 148124742, gene SPINK5 (serine peptidase inhibitor Kazal type 5): what disease(s) if pathogenic? | benign | ACCTGGTGGTTAGCAGGTTTCTGATCACAAATTCAACACTGACTTTATTTAATAGCTCTGAGATTTATTTTTCTCATCTGTAGAATGGGGATGATGCGTATTTATCTTATAAGATTTTTACAACCACTAAAGGAAATCTATTAAACCACACGATAAAGCACCTCGCACAATAATTTTTTTTTTTTTTTTTTTGGTAAATTGTGGTTGAGAAATGAAGCTGAAAGTTTACGTGTTTTTATGTTTTGCCAGAAGAGTGTCGTTTAGTTCATTCCAGGGCTTTTGAAGTAGACTTATGTGTGGAATACTGAGTGCACTCATAG... | ACCTGGTGGTTAGCAGGTTTCTGATCACAAATTCAACACTGACTTTATTTAATAGCTCTGAGATTTATTTTTCTCATCTGTAGAATGGGGATGATGCGTATTTATCTTATAAGATTTTTACAACCACTAAAGGAAATCTATTAAACCACACGATAAAGCACCTCGCACAATAATTTTTTTTTTTTTTTTTTTGGTAAATTGTGGTTGAGAAATGAAGCTGAAAGTTTACGTGTTTTTATGTTTTGCCAGAAGAGTGTCGTTTAGTTCATTCCAGGGCTTTTGAAGTAGACTTATGTGTGGAATACTGAGTGCACTCATAG... | benign | 102,205 |
Variant at chromosome 5, position 148124742, gene SPINK5 (serine peptidase inhibitor Kazal type 5): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | ACCTGGTGGTTAGCAGGTTTCTGATCACAAATTCAACACTGACTTTATTTAATAGCTCTGAGATTTATTTTTCTCATCTGTAGAATGGGGATGATGCGTATTTATCTTATAAGATTTTTACAACCACTAAAGGAAATCTATTAAACCACACGATAAAGCACCTCGCACAATAATTTTTTTTTTTTTTTTTTTGGTAAATTGTGGTTGAGAAATGAAGCTGAAAGTTTACGTGTTTTTATGTTTTGCCAGAAGAGTGTCGTTTAGTTCATTCCAGGGCTTTTGAAGTAGACTTATGTGTGGAATACTGAGTGCACTCATAG... | ACCTGGTGGTTAGCAGGTTTCTGATCACAAATTCAACACTGACTTTATTTAATAGCTCTGAGATTTATTTTTCTCATCTGTAGAATGGGGATGATGCGTATTTATCTTATAAGATTTTTACAACCACTAAAGGAAATCTATTAAACCACACGATAAAGCACCTCGCACAATAATTTTTTTTTTTTTTTTTTTGGTAAATTGTGGTTGAGAAATGAAGCTGAAAGTTTACGTGTTTTTATGTTTTGCCAGAAGAGTGTCGTTTAGTTCATTCCAGGGCTTTTGAAGTAGACTTATGTGTGGAATACTGAGTGCACTCATAG... | benign | 102,206 |
Variant on chromosome 5, at position 148124751, affecting SPINK5 (serine peptidase inhibitor Kazal type 5): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTAGCAGGTTTCTGATCACAAATTCAACACTGACTTTATTTAATAGCTCTGAGATTTATTTTTCTCATCTGTAGAATGGGGATGATGCGTATTTATCTTATAAGATTTTTACAACCACTAAAGGAAATCTATTAAACCACACGATAAAGCACCTCGCACAATAATTTTTTTTTTTTTTTTTTTGGTAAATTGTGGTTGAGAAATGAAGCTGAAAGTTTACGTGTTTTTATGTTTTGCCAGAAGAGTGTCGTTTAGTTCATTCCAGGGCTTTTGAAGTAGACTTATGTGTGGAATACTGAGTGCACTCATAGGGAGACAGG... | TTAGCAGGTTTCTGATCACAAATTCAACACTGACTTTATTTAATAGCTCTGAGATTTATTTTTCTCATCTGTAGAATGGGGATGATGCGTATTTATCTTATAAGATTTTTACAACCACTAAAGGAAATCTATTAAACCACACGATAAAGCACCTCGCACAATAATTTTTTTTTTTTTTTTTTTGGTAAATTGTGGTTGAGAAATGAAGCTGAAAGTTTACGTGTTTTTATGTTTTGCCAGAAGAGTGTCGTTTAGTTCATTCCAGGGCTTTTGAAGTAGACTTATGTGTGGAATACTGAGTGCACTCATAGGGAGACAGG... | benign | 102,208 |
Mutation at chromosome 5, position 148124752, within SPINK5 (serine peptidase inhibitor Kazal type 5): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TAGCAGGTTTCTGATCACAAATTCAACACTGACTTTATTTAATAGCTCTGAGATTTATTTTTCTCATCTGTAGAATGGGGATGATGCGTATTTATCTTATAAGATTTTTACAACCACTAAAGGAAATCTATTAAACCACACGATAAAGCACCTCGCACAATAATTTTTTTTTTTTTTTTTTTGGTAAATTGTGGTTGAGAAATGAAGCTGAAAGTTTACGTGTTTTTATGTTTTGCCAGAAGAGTGTCGTTTAGTTCATTCCAGGGCTTTTGAAGTAGACTTATGTGTGGAATACTGAGTGCACTCATAGGGAGACAGGT... | TAGCAGGTTTCTGATCACAAATTCAACACTGACTTTATTTAATAGCTCTGAGATTTATTTTTCTCATCTGTAGAATGGGGATGATGCGTATTTATCTTATAAGATTTTTACAACCACTAAAGGAAATCTATTAAACCACACGATAAAGCACCTCGCACAATAATTTTTTTTTTTTTTTTTTTGGTAAATTGTGGTTGAGAAATGAAGCTGAAAGTTTACGTGTTTTTATGTTTTGCCAGAAGAGTGTCGTTTAGTTCATTCCAGGGCTTTTGAAGTAGACTTATGTGTGGAATACTGAGTGCACTCATAGGGAGACAGGT... | benign | 102,210 |
Mutation at chromosome 5, position 148126984, within SPINK5 (serine peptidase inhibitor Kazal type 5): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ichthyosis_linearis_circumflexa', 'Netherton_syndrome'] | TAACTTCAAAGAAAATTGATTTTTCTTGTCTTGTCACTTTGTATCATAACAAGATTTTTGGGGGTTTGGGGGTTTGATACCTTTTTTGATTTTGTAGAAAATTCTCTGAGAGTGTGTGTCTATTATTGTTTTAGTCTTTCCTCCTTGGGAGAAATATGGATTGAAAAGTAGAGGGTAACATTCTTTACCAACTCAACTGCATGCTTATCTTTGACACTTTAAGTGTGAAACAAGGCTTTGGGTAGCTTGCTGATGTTTATTTTAATAATTCAGGCAATATAAACCAATCTAAGTCTCCCTTTTAGCTTCCCTTCTGTTTT... | TAACTTCAAAGAAAATTGATTTTTCTTGTCTTGTCACTTTGTATCATAACAAGATTTTTGGGGGTTTGGGGGTTTGATACCTTTTTTGATTTTGTAGAAAATTCTCTGAGAGTGTGTGTCTATTATTGTTTTAGTCTTTCCTCCTTGGGAGAAATATGGATTGAAAAGTAGAGGGTAACATTCTTTACCAACTCAACTGCATGCTTATCTTTGACACTTTAAGTGTGAAACAAGGCTTTGGGTAGCTTGCTGATGTTTATTTTAATAATTCAGGCAATATAAACCAATCTAAGTCTCCCTTTTAGCTTCCCTTCTGTTTT... | pathogenic | 102,221 |
Assess the variant on chromosome 5, position 148425510, impacting FBXO38 (F-box protein 38): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TGTTAGTCAATTGAATGAAAGAAGAAAATTGATTGGCTTTTATCATGAAAGGTTTCTAGGCAAGGTCATTTCTCATTTTGGCAATAACCAAAATATAGATATTGCAGGCTAGAGCTGGGCAATTATTCAGGGGGAGGTGTGCTGTTGTGCTTGTTTAAAACCAAAGCAATTCCCACTGTCCCTGTGAAATTTCAAACCTCTCCCATATAATTCAGTGACATTAATCTGAATGGCATCTTTTTGGCTTAATCATATTTTGCCTTGTTTCTTTGTTAACTGTTTGAGTTTGTATGAGTTTGATGGGCTTTCTCCAACAAATG... | TGTTAGTCAATTGAATGAAAGAAGAAAATTGATTGGCTTTTATCATGAAAGGTTTCTAGGCAAGGTCATTTCTCATTTTGGCAATAACCAAAATATAGATATTGCAGGCTAGAGCTGGGCAATTATTCAGGGGGAGGTGTGCTGTTGTGCTTGTTTAAAACCAAAGCAATTCCCACTGTCCCTGTGAAATTTCAAACCTCTCCCATATAATTCAGTGACATTAATCTGAATGGCATCTTTTTGGCTTAATCATATTTTGCCTTGTTTCTTTGTTAACTGTTTGAGTTTGTATGAGTTTGATGGGCTTTCTCCAACAAATG... | benign | 102,253 |
Chromosome 5, position 148427798, gene FBXO38 (F-box protein 38): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CTGACACACTTGGCCTTAATATGACAACTTGGGTGCAGTTAACATATATTACGGAATGTGACAGGAAGCAAGAAATGCACTTGCCCAAGTAAGGGAAATCTGGGTGGTGCTCTTGTAGGCAATACAACACAACAGTGTTGTGGAATGAGGGCTCAGGGAAGAAGAGAAGTAAGGATTATAAGTCTACAGTGGAGGCTTCAGTTGTGGCATCAGGGTGTCAGAGATTAGTGAGCGAAAAGCCTGTGCCTTATGTAAGGGATGACTGCTGAGTCATCCAGAGCAATGAAAAGCAACCATTCCCCAGTTGATAATCTGTCCAG... | CTGACACACTTGGCCTTAATATGACAACTTGGGTGCAGTTAACATATATTACGGAATGTGACAGGAAGCAAGAAATGCACTTGCCCAAGTAAGGGAAATCTGGGTGGTGCTCTTGTAGGCAATACAACACAACAGTGTTGTGGAATGAGGGCTCAGGGAAGAAGAGAAGTAAGGATTATAAGTCTACAGTGGAGGCTTCAGTTGTGGCATCAGGGTGTCAGAGATTAGTGAGCGAAAAGCCTGTGCCTTATGTAAGGGATGACTGCTGAGTCATCCAGAGCAATGAAAAGCAACCATTCCCCAGTTGATAATCTGTCCAG... | benign | 102,260 |
Located at chromosome 5 position 148433530, the variant affecting gene FBXO38 (F-box protein 38)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GGAAGGGAGAGAGCAATCCAGGAAGGTGAGATACTTGAAAATCAGATCATAAAAGTATTTTACTGAGAGATCTTTATTAGAACACTGTCATGTAGTGGAAACAGGCTTGCTTTTTGTTTGTTCATTTTCATTTTTGTGGTACTGGGAGAGGGAACCAGGACTTACTAATGAGGTTTTAAAAGGATTGTGAATTTTGGCTATCAGGTGAAATGTGCTGCCTTTAGAAGGTTTCATGTCAATGAAGATTGTTTGATTTTGGATGAAGTTCCTTCAGGATACTGTGGGAGAAGGCCTACGTTGTGTTGTGTGGTCAATAGTCT... | GGAAGGGAGAGAGCAATCCAGGAAGGTGAGATACTTGAAAATCAGATCATAAAAGTATTTTACTGAGAGATCTTTATTAGAACACTGTCATGTAGTGGAAACAGGCTTGCTTTTTGTTTGTTCATTTTCATTTTTGTGGTACTGGGAGAGGGAACCAGGACTTACTAATGAGGTTTTAAAAGGATTGTGAATTTTGGCTATCAGGTGAAATGTGCTGCCTTTAGAAGGTTTCATGTCAATGAAGATTGTTTGATTTTGGATGAAGTTCCTTCAGGATACTGTGGGAGAAGGCCTACGTTGTGTTGTGTGGTCAATAGTCT... | benign | 102,263 |
Located at chromosome 5 position 148983225, the variant affecting gene SH3TC2 (SH3 domain and tetratricopeptide repeats 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AGAACCAAAGCCCATGGTGGGGACCCGGTTGGTTTCTGAGAGGGGCACCATGACCCACAAATCAGGTCAGAGTTGGAACTGCAGCAAGCTGATTTATGCTTCTAATCAAGCTTCCTGCCCAGAAGTCTCTAAGTCTCCCACTACTGCTTGTCCAAAGTCTCCCGGACAGCAAGAGGGAAGAAGCAGAAACACAGCTCCCTTTACCTGATCCCTTGAGCCGTGTTTTTCCCACTACCTAACCCATGCGATGCAAACTGGACTACGTTCCAAATCCAAATAGGATTTTCTAAGCCTGCACTAGACAATGAGTTGTTTATTGA... | AGAACCAAAGCCCATGGTGGGGACCCGGTTGGTTTCTGAGAGGGGCACCATGACCCACAAATCAGGTCAGAGTTGGAACTGCAGCAAGCTGATTTATGCTTCTAATCAAGCTTCCTGCCCAGAAGTCTCTAAGTCTCCCACTACTGCTTGTCCAAAGTCTCCCGGACAGCAAGAGGGAAGAAGCAGAAACACAGCTCCCTTTACCTGATCCCTTGAGCCGTGTTTTTCCCACTACCTAACCCATGCGATGCAAACTGGACTACGTTCCAAATCCAAATAGGATTTTCTAAGCCTGCACTAGACAATGAGTTGTTTATTGA... | benign | 102,271 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 148985146, gene SH3TC2: what disease(s) if pathogenic? | benign | TAGTCTCACCTTCTGGGATCTAATCTGTGGCTAGGCTTTACTTAATTTGGCTTAAAGCACATGCTGTATAAAACATGTCCTGTTAAAAGCATTTTGAGTACAGTATTTTTTGTTACTTTGCTTCATTCGTTTGTTTGTTTTTCAAATTGCCACTTACCATTTTTAGTACAAATTCCTTTTGAAAAGCTCCCACTCTCTCCATCTCTCTGAAGAGGGGCACCTGGGTGTCATGAATACACCTGTGGCCTAAGATATGGTAATGGAGGGAACAGACCAGGTTCTGAGTGGATGAAAATAGCTCAAAAGGAGATAGCAAGGAG... | TAGTCTCACCTTCTGGGATCTAATCTGTGGCTAGGCTTTACTTAATTTGGCTTAAAGCACATGCTGTATAAAACATGTCCTGTTAAAAGCATTTTGAGTACAGTATTTTTTGTTACTTTGCTTCATTCGTTTGTTTGTTTTTCAAATTGCCACTTACCATTTTTAGTACAAATTCCTTTTGAAAAGCTCCCACTCTCTCCATCTCTCTGAAGAGGGGCACCTGGGTGTCATGAATACACCTGTGGCCTAAGATATGGTAATGGAGGGAACAGACCAGGTTCTGAGTGGATGAAAATAGCTCAAAAGGAGATAGCAAGGAG... | benign | 102,275 |
Is the genetic variant on chromosome 5, position 149008856, gene SH3TC2 (SH3 domain and tetratricopeptide repeats 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4C', 'Susceptibility_to_mononeuropathy_of_the_median_nerve,_mild'] | TCATTGTCTTTGAGTCAGGAAGGAGAATGGTTGGGTGGTGGCTGTCAGGAAATCTGGGAAGTCTGGCTCTTACCTTCAGCTGGCAGAAGGTGAGTCTGCCCAGGCGATAATACACCTTGGCATAGTACAGGGCCTCCTTGGGACTCTGCAGCCATGGTGGACAGAGGGACAGGGTCTTCAGGTAGCAGTCCTCAGCCATCTCATACATGTGCAGGGAGTAGTACACTGTAGCCAGGCGGTGAAAGGCCACCAGCTCTTGCCTCTGATCTCCTAAGAATTGGAAGACTGAGAGAGATATCCTGCAACCAACACTTTGCATC... | TCATTGTCTTTGAGTCAGGAAGGAGAATGGTTGGGTGGTGGCTGTCAGGAAATCTGGGAAGTCTGGCTCTTACCTTCAGCTGGCAGAAGGTGAGTCTGCCCAGGCGATAATACACCTTGGCATAGTACAGGGCCTCCTTGGGACTCTGCAGCCATGGTGGACAGAGGGACAGGGTCTTCAGGTAGCAGTCCTCAGCCATCTCATACATGTGCAGGGAGTAGTACACTGTAGCCAGGCGGTGAAAGGCCACCAGCTCTTGCCTCTGATCTCCTAAGAATTGGAAGACTGAGAGAGATATCCTGCAACCAACACTTTGCATC... | pathogenic | 102,333 |
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