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 |
|---|---|---|---|---|---|
Does the genetic variant at chromosome 17, position 70174878, impacting gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GTTGCTGTCTCTGTCTGTTTAGTAATGTGAGAAAACTAAGATGAAATAATTGCTTAAAAAATGCTGTCCATGTACAGGATCTAGAACTTCGAGGGGCAGGATTCTTGTTTCTTTGGTCCAAGTGCAAACTTCACAGGGAAGCAGACAAAACATTGAAGCAGGTGGAAGGTTAGGAAAGCACAGTAACTTCTTTTTATAAAGTAATTCAAAGGCACTTTCAAACTGAGCATCATTTAGGTGTCAAAAGCTGCCAAAATGTAACACACATTGCAATTTTCAAAGATGACTAATCTCAGGAAAAATGTGTTGGGGCACATTCT... | GTTGCTGTCTCTGTCTGTTTAGTAATGTGAGAAAACTAAGATGAAATAATTGCTTAAAAAATGCTGTCCATGTACAGGATCTAGAACTTCGAGGGGCAGGATTCTTGTTTCTTTGGTCCAAGTGCAAACTTCACAGGGAAGCAGACAAAACATTGAAGCAGGTGGAAGGTTAGGAAAGCACAGTAACTTCTTTTTATAAAGTAATTCAAAGGCACTTTCAAACTGAGCATCATTTAGGTGTCAAAAGCTGCCAAAATGTAACACACATTGCAATTTTCAAAGATGACTAATCTCAGGAAAAATGTGTTGGGGCACATTCT... | benign | 283,354 |
The mutation in gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) at chromosome 17, position 70176962—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCCATCTCTCCTCATTTTTTTGGTGTGTGTGTCTTCACCGAACATTCAAAACTGTTTCTCCAAAGCGTTTTGCAAAAACTCAGACTGTTTTCCAAAGCAGAAGCACTGGAGTCCCCAGCAGAAGCGATGGGCAGTGTGCGAACCAACCGCTACAGCATCGTCTCTTCAGAAGAAGACGGTATGAAGTTGGCCACCATGGCAGTTGCAAATGGCTTTGGGAACGGGAAGAGTAAAGTCCACACCCGACAACAGTGCAGGAGCCGCTTTGTGAAGAAAGATGGCCACTGTAATGTTCAGTTCATCAATGTGGGTGAGAAGGG... | CCCATCTCTCCTCATTTTTTTGGTGTGTGTGTCTTCACCGAACATTCAAAACTGTTTCTCCAAAGCGTTTTGCAAAAACTCAGACTGTTTTCCAAAGCAGAAGCACTGGAGTCCCCAGCAGAAGCGATGGGCAGTGTGCGAACCAACCGCTACAGCATCGTCTCTTCAGAAGAAGACGGTATGAAGTTGGCCACCATGGCAGTTGCAAATGGCTTTGGGAACGGGAAGAGTAAAGTCCACACCCGACAACAGTGCAGGAGCCGCTTTGTGAAGAAAGATGGCCACTGTAATGTTCAGTTCATCAATGTGGGTGAGAAGGG... | benign | 283,441 |
Clinical classification of chromosome 17, position 70177991, gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2): benign or pathogenic? Disease(s) if pathogenic? | benign | GTGGAAGCCACTGCCATGACGACACAGTGCCGTAGCTCTTATCTAGCAAATGAAATCCTGTGGGGCCACCGCTATGAGCCTGTGCTCTTTGAAGAGAAGCACTACTACAAAGTGGACTATTCCAGGTTCCACAAAACTTACGAAGTCCCCAACACTCCCCTTTGTAGTGCCAGAGACTTAGCAGAAAAGAAATATATCCTCTCAAATGCAAATTCATTTTGCTATGAAAATGAAGTTGCCCTCACAAGCAAAGAGGAAGACGACAGTGAAAATGGAGTTCCAGAAAGCACTAGTACGGACACGCCCCCTGACATAGACCT... | GTGGAAGCCACTGCCATGACGACACAGTGCCGTAGCTCTTATCTAGCAAATGAAATCCTGTGGGGCCACCGCTATGAGCCTGTGCTCTTTGAAGAGAAGCACTACTACAAAGTGGACTATTCCAGGTTCCACAAAACTTACGAAGTCCCCAACACTCCCCTTTGTAGTGCCAGAGACTTAGCAGAAAAGAAATATATCCTCTCAAATGCAAATTCATTTTGCTATGAAAATGAAGTTGCCCTCACAAGCAAAGAGGAAGACGACAGTGAAAATGGAGTTCCAGAAAGCACTAGTACGGACACGCCCCCTGACATAGACCT... | benign | 283,450 |
Evaluate if the mutation on chromosome 17 at position 72123909 in SOX9 (SRY-box transcription factor 9) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCT... | GCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCT... | benign | 283,486 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 73206747, gene COG1 (component of oligomeric golgi complex 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['COG1_congenital_disorder_of_glycosylation'] | ACAAGGCATGCGCCAGCACACCTAATTTTTGTTATTTTTTGTAGAGACAGGTTTTGCGATTTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGCAAATCGCTTGTTTCGGCCTCCCAAAGTGCTGGGACTATGGGCAGGAGCCATCACGCCTGGCCAGTAACATTTTTTAGAAGGAACATGGTCAGGTGCGATGGCTGACACCTGTAATCCCAGTACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGC... | ACAAGGCATGCGCCAGCACACCTAATTTTTGTTATTTTTTGTAGAGACAGGTTTTGCGATTTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGCAAATCGCTTGTTTCGGCCTCCCAAAGTGCTGGGACTATGGGCAGGAGCCATCACGCCTGGCCAGTAACATTTTTTAGAAGGAACATGGTCAGGTGCGATGGCTGACACCTGTAATCCCAGTACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGC... | pathogenic | 283,528 |
Chromosome 17, position 74285086, gene DNAI2 (dynein axonemal intermediate chain 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_9'] | CCTTTTCCAGACTTGTTTTGTTTTGTTTTGTTTTGTTTTAACCTTTCCTATGGTGCTGATCCAGATTTTACCTTTTGTGAGAGCTGGCTTAAAAATGGAAAGGAGATGGGAGTGACTTCATGAGGATGGGGTTTCCATCCTGGGTGATGTAAGAGTTTTGGAACTAGGTGGGGTTGATGGTTGCACAGCACTGTGTATAATAACGCTGCTGCAGTGTACGCTTTAAAGTGGTTATGTGGTAAATTTTATGTTACATGTATTTTACCACAATTTCTTAAAAACAGGAAGGGCTGGGTGTGCTGGCTCAAGCCTGTAATCCC... | CCTTTTCCAGACTTGTTTTGTTTTGTTTTGTTTTGTTTTAACCTTTCCTATGGTGCTGATCCAGATTTTACCTTTTGTGAGAGCTGGCTTAAAAATGGAAAGGAGATGGGAGTGACTTCATGAGGATGGGGTTTCCATCCTGGGTGATGTAAGAGTTTTGGAACTAGGTGGGGTTGATGGTTGCACAGCACTGTGTATAATAACGCTGCTGCAGTGTACGCTTTAAAGTGGTTATGTGGTAAATTTTATGTTACATGTATTTTACCACAATTTCTTAAAAACAGGAAGGGCTGGGTGTGCTGGCTCAAGCCTGTAATCCC... | pathogenic | 283,547 |
The mutation impacting DNAI2 (dynein axonemal intermediate chain 2) on chromosome 17 at position 74285104: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_9'] | TGTTTTGTTTTGTTTTGTTTTAACCTTTCCTATGGTGCTGATCCAGATTTTACCTTTTGTGAGAGCTGGCTTAAAAATGGAAAGGAGATGGGAGTGACTTCATGAGGATGGGGTTTCCATCCTGGGTGATGTAAGAGTTTTGGAACTAGGTGGGGTTGATGGTTGCACAGCACTGTGTATAATAACGCTGCTGCAGTGTACGCTTTAAAGTGGTTATGTGGTAAATTTTATGTTACATGTATTTTACCACAATTTCTTAAAAACAGGAAGGGCTGGGTGTGCTGGCTCAAGCCTGTAATCCCAGTACTTTGGGAGACCAA... | TGTTTTGTTTTGTTTTGTTTTAACCTTTCCTATGGTGCTGATCCAGATTTTACCTTTTGTGAGAGCTGGCTTAAAAATGGAAAGGAGATGGGAGTGACTTCATGAGGATGGGGTTTCCATCCTGGGTGATGTAAGAGTTTTGGAACTAGGTGGGGTTGATGGTTGCACAGCACTGTGTATAATAACGCTGCTGCAGTGTACGCTTTAAAGTGGTTATGTGGTAAATTTTATGTTACATGTATTTTACCACAATTTCTTAAAAACAGGAAGGGCTGGGTGTGCTGGCTCAAGCCTGTAATCCCAGTACTTTGGGAGACCAA... | pathogenic | 283,549 |
Is the genetic variant on chromosome 17, position 74305349, gene DNAI2 (dynein axonemal intermediate chain 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Primary_ciliary_dyskinesia'] | ACGATGGGCCACTCAGATCTGGGTGGCCTTTCTCTCTGGCTCACTGACGGGCGGCGTGCAGTCGGCTTGAATACTTTCTTCTCTGGACCTCTCAAGCTTGGTCTTTCCACTTGCCCTTGACGCCCAACTTGAAGCCCAGGTTTTTGTTTTGTTTTGTTGAGACATCGTTTTGCTCTGTTGCCCATGCTGGAGTGCAGTTGTGTAATCTCAGCTTACTGCAACATCCACCTCCTGGGCTCAAGCCTCAGCCTCTTGAGCAGCTGGGACCACAGGCACATGCCACCAAGCCAGGCTGATTTTTTTTTTTTTTTTGAGACAGA... | ACGATGGGCCACTCAGATCTGGGTGGCCTTTCTCTCTGGCTCACTGACGGGCGGCGTGCAGTCGGCTTGAATACTTTCTTCTCTGGACCTCTCAAGCTTGGTCTTTCCACTTGCCCTTGACGCCCAACTTGAAGCCCAGGTTTTTGTTTTGTTTTGTTGAGACATCGTTTTGCTCTGTTGCCCATGCTGGAGTGCAGTTGTGTAATCTCAGCTTACTGCAACATCCACCTCCTGGGCTCAAGCCTCAGCCTCTTGAGCAGCTGGGACCACAGGCACATGCCACCAAGCCAGGCTGATTTTTTTTTTTTTTTTGAGACAGA... | pathogenic | 283,588 |
Is the chromosome 17, position 74310087 variant in DNAI2 (dynein axonemal intermediate chain 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_9'] | CCACCATTCTCGGCCTCCCAAAGTCCTGGGATGACAGGCATGAGCCACCGCGCCCGGCCCAGATCCTTTCTTTAGTCTTGATCATTTCTCCCACTGTGGTCTGGCTGTCAACACACTAGGTTTGCAAAGGTGACTGGGAAGTGTAGTCTGCCTTGCTCACCAGGGGCCCAGCTACAACTATATTGCAATGGAGGAAGGGAGAGGAGGTCTGGGTGAAAATCTGAAGGCTGCACTGTGTGTGTGTCCCTTTTAAAAAAATGTTCCGTCTTCACTGAAGAAACTCTTGAAAACCCAGATGAAACCAAGTAGGAAGTGACACT... | CCACCATTCTCGGCCTCCCAAAGTCCTGGGATGACAGGCATGAGCCACCGCGCCCGGCCCAGATCCTTTCTTTAGTCTTGATCATTTCTCCCACTGTGGTCTGGCTGTCAACACACTAGGTTTGCAAAGGTGACTGGGAAGTGTAGTCTGCCTTGCTCACCAGGGGCCCAGCTACAACTATATTGCAATGGAGGAAGGGAGAGGAGGTCTGGGTGAAAATCTGAAGGCTGCACTGTGTGTGTGTCCCTTTTAAAAAAATGTTCCGTCTTCACTGAAGAAACTCTTGAAAACCCAGATGAAACCAAGTAGGAAGTGACACT... | pathogenic | 283,612 |
Regarding the variant found on chromosome 17 at position 74310097 in gene DNAI2 (dynein axonemal intermediate chain 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_9'] | CGGCCTCCCAAAGTCCTGGGATGACAGGCATGAGCCACCGCGCCCGGCCCAGATCCTTTCTTTAGTCTTGATCATTTCTCCCACTGTGGTCTGGCTGTCAACACACTAGGTTTGCAAAGGTGACTGGGAAGTGTAGTCTGCCTTGCTCACCAGGGGCCCAGCTACAACTATATTGCAATGGAGGAAGGGAGAGGAGGTCTGGGTGAAAATCTGAAGGCTGCACTGTGTGTGTGTCCCTTTTAAAAAAATGTTCCGTCTTCACTGAAGAAACTCTTGAAAACCCAGATGAAACCAAGTAGGAAGTGACACTCTCCTTATCT... | CGGCCTCCCAAAGTCCTGGGATGACAGGCATGAGCCACCGCGCCCGGCCCAGATCCTTTCTTTAGTCTTGATCATTTCTCCCACTGTGGTCTGGCTGTCAACACACTAGGTTTGCAAAGGTGACTGGGAAGTGTAGTCTGCCTTGCTCACCAGGGGCCCAGCTACAACTATATTGCAATGGAGGAAGGGAGAGGAGGTCTGGGTGAAAATCTGAAGGCTGCACTGTGTGTGTGTCCCTTTTAAAAAAATGTTCCGTCTTCACTGAAGAAACTCTTGAAAACCCAGATGAAACCAAGTAGGAAGTGACACTCTCCTTATCT... | pathogenic | 283,613 |
Is the genetic change at chromosome 17, position 74919524, within gene USH1G benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Usher_syndrome_type_1G'] | CCTTGACCACTAGGTGAAGGAGGGGGAGCTGGCTATGCTTGGGATGGGGTACAGACTGAAAGTTGGGGCATTTGGCTGAAGAGTCTGGCTGAGGAACTTCCCCTCTGGGGTGGACGGGAGGAGGGGAGGCAGCCCAAACTCTTCCCTTCACAACAATGCAGGAAGTGAGCAAGTCTCTGGCCTGAGCACAAGAGAACAAGACCATCAGGGGAGGGGTGGGAGAGGCCACGGCGCCCGGGACAGGTGCACCCTCCCGCATCCACCTCCCACACTCTCATCCAGTTCCGATGCCCCTGCCCTCCCTCTGGGGCAGGCCTCCC... | CCTTGACCACTAGGTGAAGGAGGGGGAGCTGGCTATGCTTGGGATGGGGTACAGACTGAAAGTTGGGGCATTTGGCTGAAGAGTCTGGCTGAGGAACTTCCCCTCTGGGGTGGACGGGAGGAGGGGAGGCAGCCCAAACTCTTCCCTTCACAACAATGCAGGAAGTGAGCAAGTCTCTGGCCTGAGCACAAGAGAACAAGACCATCAGGGGAGGGGTGGGAGAGGCCACGGCGCCCGGGACAGGTGCACCCTCCCGCATCCACCTCCCACACTCTCATCCAGTTCCGATGCCCCTGCCCTCCCTCTGGGGCAGGCCTCCC... | pathogenic | 283,701 |
Regarding the variant at chromosome 17 and position 74919831, affecting gene USH1G (USH1 protein network component sans): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Usher_syndrome_type_1G'] | GGGCAGGCCTCCCCCAAGTCTACATGTCCTTTACGGCTGCTCAGAATGGGTGGCTCAGGGCCTTCAAGACCCCTCAGAACTGGAGTTCCGGAACATTCTCTTGCCCCTCTGGTGCCTCCAGGCCACACCCTCAGCTTCAAGGTGCAGACAGACTTTCAAAGGAGTCGCCCCAACTGGTCCTTGCTCCTGGGGAAGGGGGCTGCAGGGCTGGCAACTGTGAGGACCTCGAGACCCCACCATAGGTTGTGGCAACTTGCAATTCATTTTGGTCTGGGGAGAGGAGCCCCCGGTTATCTGTGGAGGAAGAGACAGAAAGAAAC... | GGGCAGGCCTCCCCCAAGTCTACATGTCCTTTACGGCTGCTCAGAATGGGTGGCTCAGGGCCTTCAAGACCCCTCAGAACTGGAGTTCCGGAACATTCTCTTGCCCCTCTGGTGCCTCCAGGCCACACCCTCAGCTTCAAGGTGCAGACAGACTTTCAAAGGAGTCGCCCCAACTGGTCCTTGCTCCTGGGGAAGGGGGCTGCAGGGCTGGCAACTGTGAGGACCTCGAGACCCCACCATAGGTTGTGGCAACTTGCAATTCATTTTGGTCTGGGGAGAGGAGCCCCCGGTTATCTGTGGAGGAAGAGACAGAAAGAAAC... | pathogenic | 283,704 |
Clinically, how would you classify the variant at chromosome 17, position 74920448, gene USH1G (USH1 protein network component sans): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Usher_syndrome_type_1G'] | GTGGCAGCCTTGGGCAACTATGACGGCCTTTGGAACATGAACTCTGCCTCCAGGGCTGCTGCTGACCCTCTTGGGAGCATTTGCCCACGTTCCTGATTGCAAAGTTCAGGAACAGTAGGTAAAACATCTCCCTAAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGAGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGTGCACTCCTGTAATCCCAGCTACTCAGGAGGCTGA... | GTGGCAGCCTTGGGCAACTATGACGGCCTTTGGAACATGAACTCTGCCTCCAGGGCTGCTGCTGACCCTCTTGGGAGCATTTGCCCACGTTCCTGATTGCAAAGTTCAGGAACAGTAGGTAAAACATCTCCCTAAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGAGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGTGCACTCCTGTAATCCCAGCTACTCAGGAGGCTGA... | pathogenic | 283,716 |
Chromosome 17, position 74920627, gene USH1G (USH1 protein network component sans): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Usher_syndrome_type_1'] | GGCCAGAGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGTGCACTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACAGTGATTGTGCCACTGCACTCCAGCCTGGATGACAAGAGGGAAACTGTCTCAAAAAAAAAAAAAAAAAAATCTGCCTGAGGTCTTGGGCAATTGAGAGGCCCTGCTGACTGCACGCCCTGCATCCCATGGCAGCCACCTTG... | GGCCAGAGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGTGCACTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACAGTGATTGTGCCACTGCACTCCAGCCTGGATGACAAGAGGGAAACTGTCTCAAAAAAAAAAAAAAAAAAATCTGCCTGAGGTCTTGGGCAATTGAGAGGCCCTGCTGACTGCACGCCCTGCATCCCATGGCAGCCACCTTG... | pathogenic | 283,719 |
Variant on chromosome 17, at position 74922961, affecting USH1G (USH1 protein network component sans): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | GACTGGGGCGGGGCCTTCCCCAAGCTAACTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCA... | GACTGGGGCGGGGCCTTCCCCAAGCTAACTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCA... | pathogenic | 283,724 |
Located at chromosome 17 position 74922989, the variant affecting gene USH1G (USH1 protein network component sans)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic | CTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCAAGCCCGAGTGTGAGAGGAGGTGTCGGGC... | CTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCAAGCCCGAGTGTGAGAGGAGGTGTCGGGC... | pathogenic | 283,725 |
Gene MRPS7 (mitochondrial ribosomal protein S7) variant at chromosome 17, position 75262483—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | AAAGAAGCCTTATGACCTGCCTGCAACTGCAGATTTTGCAAACGTGATCTTACTTTTTCTCTCTTTTGGGATATGCTCCCCTTTAAACTGAAGCTCAACCTCCTGAAGGGGGTTTCTTACTAGGAAAAATCAGACAATTTGAGGAAATAGCTATCACCTCCAAGATCCCGGAAGCAGTACTAAATAAGAGACCTCAGAACAAGGCAATACTAGGTATCTCACCTATCCCATTACCAGTCCAATTTCTCTCTCCACTTAAAGGAGGCTTCCAGGTCTAGCCTACAGGAAAGTTCACTTATTAACCCTCAGGCAGAGTACTA... | AAAGAAGCCTTATGACCTGCCTGCAACTGCAGATTTTGCAAACGTGATCTTACTTTTTCTCTCTTTTGGGATATGCTCCCCTTTAAACTGAAGCTCAACCTCCTGAAGGGGGTTTCTTACTAGGAAAAATCAGACAATTTGAGGAAATAGCTATCACCTCCAAGATCCCGGAAGCAGTACTAAATAAGAGACCTCAGAACAAGGCAATACTAGGTATCTCACCTATCCCATTACCAGTCCAATTTCTCTCTCCACTTAAAGGAGGCTTCCAGGTCTAGCCTACAGGAAAGTTCACTTATTAACCCTCAGGCAGAGTACTA... | benign | 283,762 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 75491324, gene TMEM94 (transmembrane protein 94): what disease(s) if pathogenic? | pathogenic; ['Intellectual_developmental_disorder_with_cardiac_defects_and_dysmorphic_facies', 'Rare_syndromic_intellectual_disability'] | GACATGGCCCTGTCCCGACCAGTCACTGCCCTGGACAATGAGCGGTTCACAGTGCAGTCGGTGATGCTACACTATGCTGTGCCCGTGGTCCTGGTGCGTGTGGCGGGGCTGTGCGGGGCTGCATGGGGCAGAGGAGAGGGCTGGACACGGGGGGGTCTCAGGGCCACTCACATGAGCGGGAGTGAATGCAGAGGGTCCCAGAGTGAGCCAGCCTGTGGAGTAGCAAAGGAAGGGGAACGGCAGTGCCTGGGTCCCTCTAGAGGGGCGGGGTCAAGGCTGTGCCTCTGCTGTTCCCAACAGGCCGGCTTCCTCATCACCAA... | GACATGGCCCTGTCCCGACCAGTCACTGCCCTGGACAATGAGCGGTTCACAGTGCAGTCGGTGATGCTACACTATGCTGTGCCCGTGGTCCTGGTGCGTGTGGCGGGGCTGTGCGGGGCTGCATGGGGCAGAGGAGAGGGCTGGACACGGGGGGGTCTCAGGGCCACTCACATGAGCGGGAGTGAATGCAGAGGGTCCCAGAGTGAGCCAGCCTGTGGAGTAGCAAAGGAAGGGGAACGGCAGTGCCTGGGTCCCTCTAGAGGGGCGGGGTCAAGGCTGTGCCTCTGCTGTTCCCAACAGGCCGGCTTCCTCATCACCAA... | pathogenic | 283,806 |
Is the genetic mutation found on chromosome 17 at position 75517101, within the gene TSEN54 (tRNA splicing endonuclease subunit 54), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CAAGCCCAACCCAGGGGCACTCCCACGCGGAGCCCGCGGCCGACACGGGCGGAGGGCGCCCTTGGCAGTGCCTGGGGTCGGGCTGGCTCCCCCGCCCCCCGGAATGTCCCTCCAGCGCCTCGCAACCCCCCAGCCCAGCCCAGCCCAGCCCAGGCCCACCGGGGAACAAAGCGGCGGGAGAAGCCGGGCGGGCCAAGCGCCCGAGGTATAAACGCGGAGGATGGAAAAAGGGGCGCGAGGAGGACGGAAGGAGCGGGGAGATGGAGGTGCCCGCCGACCCCGCAAGAAAAGTTAGTTTGCGCCCGCCCCCAGGGGCGCTG... | CAAGCCCAACCCAGGGGCACTCCCACGCGGAGCCCGCGGCCGACACGGGCGGAGGGCGCCCTTGGCAGTGCCTGGGGTCGGGCTGGCTCCCCCGCCCCCCGGAATGTCCCTCCAGCGCCTCGCAACCCCCCAGCCCAGCCCAGCCCAGCCCAGGCCCACCGGGGAACAAAGCGGCGGGAGAAGCCGGGCGGGCCAAGCGCCCGAGGTATAAACGCGGAGGATGGAAAAAGGGGCGCGAGGAGGACGGAAGGAGCGGGGAGATGGAGGTGCCCGCCGACCCCGCAAGAAAAGTTAGTTTGCGCCCGCCCCCAGGGGCGCTG... | benign | 283,827 |
Clinically, how would you classify the variant at chromosome 17, position 75521750, gene TSEN54 (tRNA splicing endonuclease subunit 54): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Pontocerebellar_hypoplasia_type_2A', 'Pontocerebellar_hypoplasia_type_4', 'Pontocerebellar_hypoplasia_type_5'] | ACAGGCGTGTGCCACCATGCCTGGCTAATTTTTTTATTTTATTTTATTTTTAGTACAGATGGGGTTTCACTGTGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACGCCCAGCTCTACATCTTTTCTTTTCTGAAAGTGGAACCTATCCTAAGGAAATAATCGTGGACGTGTACAGTGGTTCACCTGTGAGAATGATCAACGATATTTATTATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAAT... | ACAGGCGTGTGCCACCATGCCTGGCTAATTTTTTTATTTTATTTTATTTTTAGTACAGATGGGGTTTCACTGTGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACGCCCAGCTCTACATCTTTTCTTTTCTGAAAGTGGAACCTATCCTAAGGAAATAATCGTGGACGTGTACAGTGGTTCACCTGTGAGAATGATCAACGATATTTATTATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAAT... | pathogenic | 283,852 |
Variant on chromosome 17, at position 75521868, affecting TSEN54 (tRNA splicing endonuclease subunit 54): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Pontocerebellar_hypoplasia_type_2A', 'Pontocerebellar_hypoplasia_type_4', 'Pontocerebellar_hypoplasia_type_5'] | GCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACGCCCAGCTCTACATCTTTTCTTTTCTGAAAGTGGAACCTATCCTAAGGAAATAATCGTGGACGTGTACAGTGGTTCACCTGTGAGAATGATCAACGATATTTATTATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGT... | GCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACGCCCAGCTCTACATCTTTTCTTTTCTGAAAGTGGAACCTATCCTAAGGAAATAATCGTGGACGTGTACAGTGGTTCACCTGTGAGAATGATCAACGATATTTATTATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGT... | pathogenic | 283,857 |
Is the variant located on chromosome 17 at position 75521926, gene TSEN54 (tRNA splicing endonuclease subunit 54), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Pontocerebellar_hypoplasia_type_2A', 'Pontocerebellar_hypoplasia_type_4', 'Pontocerebellar_hypoplasia_type_5'] | TCTTTTCTTTTCTGAAAGTGGAACCTATCCTAAGGAAATAATCGTGGACGTGTACAGTGGTTCACCTGTGAGAATGATCAACGATATTTATTATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTG... | TCTTTTCTTTTCTGAAAGTGGAACCTATCCTAAGGAAATAATCGTGGACGTGTACAGTGGTTCACCTGTGAGAATGATCAACGATATTTATTATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTG... | pathogenic | 283,859 |
For chromosome 17, position 75521933, gene TSEN54 (tRNA splicing endonuclease subunit 54): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Inborn_genetic_diseases', 'Pontocerebellar_hypoplasia_type_2A', 'Pontocerebellar_hypoplasia_type_4', 'Pontocerebellar_hypoplasia_type_5', 'Pontoneocerebellar_hypoplasia'] | TTTTCTGAAAGTGGAACCTATCCTAAGGAAATAATCGTGGACGTGTACAGTGGTTCACCTGTGAGAATGATCAACGATATTTATTATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGA... | TTTTCTGAAAGTGGAACCTATCCTAAGGAAATAATCGTGGACGTGTACAGTGGTTCACCTGTGAGAATGATCAACGATATTTATTATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGA... | pathogenic | 283,860 |
Regarding the variant at chromosome 17 and position 75522018, affecting gene TSEN54 (tRNA splicing endonuclease subunit 54): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Pontocerebellar_hypoplasia_type_2A', 'Pontocerebellar_hypoplasia_type_4'] | ATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAG... | ATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAG... | pathogenic | 283,863 |
Clinical significance of chromosome 17, position 75522030, gene TSEN54 (tRNA splicing endonuclease subunit 54): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Methylmalonic_aciduria_and_homocystinuria_type_cblD', 'Pontocerebellar_hypoplasia_type_4', 'Pontocerebellar_hypoplasia_type_5'] | TCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTG... | TCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTG... | pathogenic | 283,864 |
Classify the chromosome 17 variant at position 75522069 affecting gene TSEN54 (tRNA splicing endonuclease subunit 54) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic | TCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGC... | TCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGC... | pathogenic | 283,866 |
Variant in gene TSEN54 (tRNA splicing endonuclease subunit 54), located at chromosome 17 position 75522139: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic | ACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGCGGGCGGATCGCGTGAGCTCAGGAGTACGAGACCAGCCTGGACAGCGTGGTGAAACCCTGTCTCTACTAAA... | ACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGCGGGCGGATCGCGTGAGCTCAGGAGTACGAGACCAGCCTGGACAGCGTGGTGAAACCCTGTCTCTACTAAA... | pathogenic | 283,869 |
Does the genetic variant at chromosome 17, position 75523683, impacting gene TSEN54 (tRNA splicing endonuclease subunit 54), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Olivopontocerebellar_hypoplasia', 'Pontoneocerebellar_hypoplasia'] | CAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGTCACGGGAGCC... | CAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGTCACGGGAGCC... | pathogenic | 283,884 |
Does the genetic variant at chromosome 17, position 75729291, impacting gene ITGB4 (integrin subunit beta 4), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | GTGTGGATAAGGACTGCGCCTACTGCACAGACGAGGTGAGGACCTGGCCCGGGTTGGTGTGGAACAGGCAAGGGTCGGGAATAGCTGGTGGAAATGAATCTAGGGTTGGGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGG... | GTGTGGATAAGGACTGCGCCTACTGCACAGACGAGGTGAGGACCTGGCCCGGGTTGGTGTGGAACAGGCAAGGGTCGGGAATAGCTGGTGGAAATGAATCTAGGGTTGGGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGG... | pathogenic | 283,916 |
Located at chromosome 17 position 75729310, the variant affecting gene ITGB4 (integrin subunit beta 4)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | CTACTGCACAGACGAGGTGAGGACCTGGCCCGGGTTGGTGTGGAACAGGCAAGGGTCGGGAATAGCTGGTGGAAATGAATCTAGGGTTGGGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGGGGGTGTATAGTGCCCCTTG... | CTACTGCACAGACGAGGTGAGGACCTGGCCCGGGTTGGTGTGGAACAGGCAAGGGTCGGGAATAGCTGGTGGAAATGAATCTAGGGTTGGGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGGGGGTGTATAGTGCCCCTTG... | pathogenic | 283,918 |
Does the variant impacting ITGB4 (integrin subunit beta 4) on chromosome 17, position 75729355, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | CAGGCAAGGGTCGGGAATAGCTGGTGGAAATGAATCTAGGGTTGGGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGGGGGTGTATAGTGCCCCTTGGCCGGGCTGGGCCCCCATCGGGCCTCCGGAGTGACCCTCTAGCCA... | CAGGCAAGGGTCGGGAATAGCTGGTGGAAATGAATCTAGGGTTGGGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGGGGGTGTATAGTGCCCCTTGGCCGGGCTGGGCCCCCATCGGGCCTCCGGAGTGACCCTCTAGCCA... | pathogenic | 283,919 |
Gene ITGB4 (integrin subunit beta 4) variant at chromosome 17, position 75730295—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | GAACCTTTGTCCAGCATGCAAAGCGTTAACCTCCCTCTTCCTCCCTTCTGAGCCAGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTAC... | GAACCTTTGTCCAGCATGCAAAGCGTTAACCTCCCTCTTCCTCCCTTCTGAGCCAGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTAC... | pathogenic | 283,923 |
Evaluate this variant at chromosome 17, position 75730385, gene ITGB4 (integrin subunit beta 4): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | CAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCC... | CAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCC... | pathogenic | 283,925 |
Variant on chromosome 17, at position 75733648, affecting ITGB4 (integrin subunit beta 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | CGAAGCCCAGAGGCCCTGGCCACTGTCATTGTCGCTATGATTGTGACTGCGCTGGGAAGGAGGGAGTTTCCAGCCCTGAGGGAGGTGAGCAGGAGCTCATTTCAGGGATCCAGACATCTCCTAGGAACTTGGGGGCCGAGGGCCTTCAGGCATCGATGGCCCCCTGGTCCTTGGGGCTGGGCCTGCCTTGGCTGACCACGGGGCCCCTGCAGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCC... | CGAAGCCCAGAGGCCCTGGCCACTGTCATTGTCGCTATGATTGTGACTGCGCTGGGAAGGAGGGAGTTTCCAGCCCTGAGGGAGGTGAGCAGGAGCTCATTTCAGGGATCCAGACATCTCCTAGGAACTTGGGGGCCGAGGGCCTTCAGGCATCGATGGCCCCCTGGTCCTTGGGGCTGGGCCTGCCTTGGCTGACCACGGGGCCCCTGCAGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCC... | pathogenic | 283,939 |
Mutation found at chromosome 17 position 75750112, gene ITGB4 (integrin subunit beta 4): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | GCTCCACGGCACTGAAAGGAAGATGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCGCTTGAGGCCGGGAGTTCAAGACCAGCCTAGGCAACATAGGGTAACCGTGCCTCTACAAAAAAAAAAAAAAAAAAAATAGCCAGGTGTGGTGCACGCCTGTAGTCCCAGCTACTCAGGCGGCTGAGGGGAAGGATGGCCTGAGCCCAGGAGGTCAAGGCTTCAGTGAGCTGTGATTGTGCCCCTACACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAACAAACAAACAAACAGAA... | GCTCCACGGCACTGAAAGGAAGATGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCGCTTGAGGCCGGGAGTTCAAGACCAGCCTAGGCAACATAGGGTAACCGTGCCTCTACAAAAAAAAAAAAAAAAAAAATAGCCAGGTGTGGTGCACGCCTGTAGTCCCAGCTACTCAGGCGGCTGAGGGGAAGGATGGCCTGAGCCCAGGAGGTCAAGGCTTCAGTGAGCTGTGATTGTGCCCCTACACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAACAAACAAACAAACAGAA... | pathogenic | 283,976 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 75751021, gene ITGB4 (integrin subunit beta 4). What disease(s) is it linked to if pathogenic? | pathogenic; ['Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | CAGCTCAGCAACCCTAAGTTTGGGGCCCACCTGGGCCAGCCCCACTCCACCACCATCATCATCAGGGACCCAGGTAGGCAGAGCCTGGGGGTCGGCTTAAGCAGGAGGAGAGGGAAGACTGGGGGGTCTCTCAACTAGGTCTGTCAGACTTAGCAAATCCAAACACAGGACGCCCAGGTAAATCTGAATTTCAGGTAAACAACATACACGTTGGTAGGATAAGTATGTCCCATGCAATATTTGGAACATACTTATCCTTTTTTTTGCAAAATGGGCTGGGTATACTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGC... | CAGCTCAGCAACCCTAAGTTTGGGGCCCACCTGGGCCAGCCCCACTCCACCACCATCATCATCAGGGACCCAGGTAGGCAGAGCCTGGGGGTCGGCTTAAGCAGGAGGAGAGGGAAGACTGGGGGGTCTCTCAACTAGGTCTGTCAGACTTAGCAAATCCAAACACAGGACGCCCAGGTAAATCTGAATTTCAGGTAAACAACATACACGTTGGTAGGATAAGTATGTCCCATGCAATATTTGGAACATACTTATCCTTTTTTTTGCAAAATGGGCTGGGTATACTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGC... | pathogenic | 283,983 |
Is the variant located on chromosome 17 at position 75754609, gene GALK1, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | CGTCTCCGATGACACTGGTGAGTGGAGACCTGGGACCCACAAGAGGACAGTGGGGGTCTTGGGTACAGAGTGAGTCCACTGGGTCCAGAGAGGGCAAAGGGGCCAGCAACTAGAGGACATGGAGGTTAAGGCAGCCTTGGACAAATGCAATGGAGTGCACATCTGTGCATGGGGCACAGGAACCAGTGCCTGGGGGACAGACACACACAGCCTTGTGCAAGCGCACATGAGTTCATGCCCACGGGACCACGAAGAAACACAGCTTCACAAGTTGAAGGTTCACCAGCTGTGCCATGCACACAGGACACTCAGGCCACCCC... | CGTCTCCGATGACACTGGTGAGTGGAGACCTGGGACCCACAAGAGGACAGTGGGGGTCTTGGGTACAGAGTGAGTCCACTGGGTCCAGAGAGGGCAAAGGGGCCAGCAACTAGAGGACATGGAGGTTAAGGCAGCCTTGGACAAATGCAATGGAGTGCACATCTGTGCATGGGGCACAGGAACCAGTGCCTGGGGGACAGACACACACAGCCTTGTGCAAGCGCACATGAGTTCATGCCCACGGGACCACGAAGAAACACAGCTTCACAAGTTGAAGGTTCACCAGCTGTGCCATGCACACAGGACACTCAGGCCACCCC... | pathogenic | 283,996 |
Located at chromosome 17 position 75755774, the variant affecting gene GALK1—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | CCCCCGGCGGTGCCAACGCGGCCCTTCGTTGTTCCCAAGGCTGCGGCTGGAAGTTCGAGCCCCTGCTGGGGGAGGAGCTGGACCTGCGGCGCGTCACGTGGCGGCTGCCCCCGGAGCTCATCCCGCGCCTGTCGGCCAGCAGCGGGCGCTCCTCCGACGCCGAGGCGCCCCACGGGCCCCCGGACGACGGCGGCGCGGGCGGGAAGGGCGGCAGCCTGCCCCGCAGTGCGACACCCGGGCCCCCCGGAGGTGACAGGCTCACCCGCCGCCCCCCGATCCGCGCCCACCCAGCCTCACTCGCGCCTGAGGGCCTGGGGTGG... | CCCCCGGCGGTGCCAACGCGGCCCTTCGTTGTTCCCAAGGCTGCGGCTGGAAGTTCGAGCCCCTGCTGGGGGAGGAGCTGGACCTGCGGCGCGTCACGTGGCGGCTGCCCCCGGAGCTCATCCCGCGCCTGTCGGCCAGCAGCGGGCGCTCCTCCGACGCCGAGGCGCCCCACGGGCCCCCGGACGACGGCGGCGCGGGCGGGAAGGGCGGCAGCCTGCCCCGCAGTGCGACACCCGGGCCCCCCGGAGGTGACAGGCTCACCCGCCGCCCCCCGATCCGCGCCCACCCAGCCTCACTCGCGCCTGAGGGCCTGGGGTGG... | pathogenic | 284,008 |
Benign or pathogenic: chromosome 17, position 75756420, gene GALK1 variant? Disease(s) if pathogenic? | benign | GATATGGGCTGTGGAAGCCTGGGTGGCCCTTGGGCTCCTGCAGGGACAGAGGGCCTCTGTCCCTAGTGGTTTGAGGGAAACTGGTTGTATTTAAGCAAAAGCCACCCAGAGGGTGGGTGACCAGGAATGTGCAGGGCCCAGCCTGCCCCACGGGGCCCGGGTCTGGGGCAGGCCTGACCAAGGGACCCTGCTCTCCCCCTGCAGAGCACCTGGTGAATGGCCGGATGGACTTTGCCTTCCCGGGCAGCACCAACTCCCTGCACAGGATGACCACGACCAGTGCTGCTGCCTATGGCACCCACCTGAGCCCACACGTGCCC... | GATATGGGCTGTGGAAGCCTGGGTGGCCCTTGGGCTCCTGCAGGGACAGAGGGCCTCTGTCCCTAGTGGTTTGAGGGAAACTGGTTGTATTTAAGCAAAAGCCACCCAGAGGGTGGGTGACCAGGAATGTGCAGGGCCCAGCCTGCCCCACGGGGCCCGGGTCTGGGGCAGGCCTGACCAAGGGACCCTGCTCTCCCCCTGCAGAGCACCTGGTGAATGGCCGGATGGACTTTGCCTTCCCGGGCAGCACCAACTCCCTGCACAGGATGACCACGACCAGTGCTGCTGCCTATGGCACCCACCTGAGCCCACACGTGCCC... | benign | 284,012 |
Assess the variant on chromosome 17, position 75756944, impacting GALK1: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | TGTCCCCACCGCCCATTCTCCAACATACACACACGCATGCACACATGCACGCACACACGTGCACACGCATGCACACATGTACACAGACATGCATGCGCACACGTACACACATGCATGCACACTCCCTGCTCCTCTCACTCTTGTTTTGTCCTGCCCTAGGCCTCCCTCCCATCTGGGAACACGGGAGGAGCAGGCTTCCGCTGTCCTGGGCCCTGGGGTCCCGGAGTCGGGCTCAGATGAAAGGGTTCCCCCCTTCCAGGGGCCCACGAGACTCTATAATCCTGGCTGGGAGGCCAGCAGCGCCCTCCTGGGGCCCAGGT... | TGTCCCCACCGCCCATTCTCCAACATACACACACGCATGCACACATGCACGCACACACGTGCACACGCATGCACACATGTACACAGACATGCATGCGCACACGTACACACATGCATGCACACTCCCTGCTCCTCTCACTCTTGTTTTGTCCTGCCCTAGGCCTCCCTCCCATCTGGGAACACGGGAGGAGCAGGCTTCCGCTGTCCTGGGCCCTGGGGTCCCGGAGTCGGGCTCAGATGAAAGGGTTCCCCCCTTCCAGGGGCCCACGAGACTCTATAATCCTGGCTGGGAGGCCAGCAGCGCCCTCCTGGGGCCCAGGT... | pathogenic | 284,021 |
Located at chromosome 17 position 75758221, the variant affecting gene GALK1 (galactokinase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Deficiency_of_galactokinase'] | TGGGCAGGCACATTCAAAGCAGCATGACCAGGATGCAGGATGTTGCCTAAACATGAGTGGGATTACAGGCTCCACTCTTGTATAGTACACAATCTGAACAACCAGCCATACCATACTGTACCCAACCTGTACCCAAACCACAGCTAGTCCTGGGTGGGTGATAACTAGGTCTCGATGGCAGCTTAGGGACGAGGAGGATCAGGCCAGGGGTGGGAGTAACACTGCACTACTGTGTGCCCCCACCTGATCCCCCCAGGTGAGCTGCATCGGCTCAACATCCCCAACCCTGCCCAGACCTCGGTGGTGGTGGAAGACCTCCT... | TGGGCAGGCACATTCAAAGCAGCATGACCAGGATGCAGGATGTTGCCTAAACATGAGTGGGATTACAGGCTCCACTCTTGTATAGTACACAATCTGAACAACCAGCCATACCATACTGTACCCAACCTGTACCCAAACCACAGCTAGTCCTGGGTGGGTGATAACTAGGTCTCGATGGCAGCTTAGGGACGAGGAGGATCAGGCCAGGGGTGGGAGTAACACTGCACTACTGTGTGCCCCCACCTGATCCCCCCAGGTGAGCTGCATCGGCTCAACATCCCCAACCCTGCCCAGACCTCGGTGGTGGTGGAAGACCTCCT... | pathogenic | 284,041 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 75758518, gene GALK1 (galactokinase 1): what disease(s) if pathogenic? | pathogenic; ['Deficiency_of_galactokinase'] | TCGGTGGTGGTGGAAGACCTCCTGCCCAACCACTCCTACGTGTTCCGCGTGCGGGCCCAGAGCCAGGAAGGCTGGGGCCGAGAGCGTGAGGGTGTCATCACCATTGAATCCCAGGTGCACCCGCAGAGCCCACTGTGTCCCCTGCCAGGTGAGTTGCCTCCCCCAGCCCCAGAGCTGCCCCCATCATGCCCACCACCCACCCACAGGCTGATGCTCTTCCTCTACTGCCCCCAGGCTCCGCCTTCACTTTGAGCACTCCCAGTGCCCCAGGCCCGCTGGTGTTCACTGCCCTGAGCCCAGACTCGCTGCAGCTGAGCTGG... | TCGGTGGTGGTGGAAGACCTCCTGCCCAACCACTCCTACGTGTTCCGCGTGCGGGCCCAGAGCCAGGAAGGCTGGGGCCGAGAGCGTGAGGGTGTCATCACCATTGAATCCCAGGTGCACCCGCAGAGCCCACTGTGTCCCCTGCCAGGTGAGTTGCCTCCCCCAGCCCCAGAGCTGCCCCCATCATGCCCACCACCCACCCACAGGCTGATGCTCTTCCTCTACTGCCCCCAGGCTCCGCCTTCACTTTGAGCACTCCCAGTGCCCCAGGCCCGCTGGTGTTCACTGCCCTGAGCCCAGACTCGCTGCAGCTGAGCTGG... | pathogenic | 284,050 |
Evaluate the clinical significance of the mutation at chromosome 17, position 75762786 in gene GALK1 (galactokinase 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Deficiency_of_galactokinase'] | TGCGCTCCAGCCTGGGCTACAGAGCAAGACTCAGTCTCAAAGAAAAAAAAGAGAATGCAGATAAACCGGGTGCCTTTGGTTGCAGCTACCCAGGAGACTAGGTGAGAAGATTACTTGAGCCCAAGAGTTCAGGTCCAGCCTGGGCAACTTAGCAGAACCCATCTCTTTAAAAAATAAAAAAGATGGCCAGGCACAGTGGTTCATGCCTGTCATCCCAGTACTTTGGGAGGCTGAGGTGGGCAGATCACCAGGTCAGGAGTTCACGACCAGCCCGACCAACATGGTAAAACCTCATCTCTACTAAAAATACAAAAATTAGC... | TGCGCTCCAGCCTGGGCTACAGAGCAAGACTCAGTCTCAAAGAAAAAAAAGAGAATGCAGATAAACCGGGTGCCTTTGGTTGCAGCTACCCAGGAGACTAGGTGAGAAGATTACTTGAGCCCAAGAGTTCAGGTCCAGCCTGGGCAACTTAGCAGAACCCATCTCTTTAAAAAATAAAAAAGATGGCCAGGCACAGTGGTTCATGCCTGTCATCCCAGTACTTTGGGAGGCTGAGGTGGGCAGATCACCAGGTCAGGAGTTCACGACCAGCCCGACCAACATGGTAAAACCTCATCTCTACTAAAAATACAAAAATTAGC... | pathogenic | 284,056 |
Determine whether the variant at chromosome 17, position 75763384, in gene GALK1 (galactokinase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Deficiency_of_galactokinase'] | CGGAGGCCAGGTGCAGTGGCTCACACATGTAATCCTAGCACATTGGGAGGCTGAGGCGGGCAGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGAAACCCCGTCTCTACTAAAAATATAAAAATTGGCTGGGCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAAGCTAAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGATGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGGGCAAGCCTCCACCTCACCAAAAAAAAAAGAAAAAAAAAAAAAAAGAGCCACACC... | CGGAGGCCAGGTGCAGTGGCTCACACATGTAATCCTAGCACATTGGGAGGCTGAGGCGGGCAGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGAAACCCCGTCTCTACTAAAAATATAAAAATTGGCTGGGCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAAGCTAAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGATGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGGGCAAGCCTCCACCTCACCAAAAAAAAAAGAAAAAAAAAAAAAAAGAGCCACACC... | pathogenic | 284,064 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 75763384, gene GALK1 (galactokinase 1): what disease(s) if pathogenic? | pathogenic; ['Deficiency_of_galactokinase'] | CGGAGGCCAGGTGCAGTGGCTCACACATGTAATCCTAGCACATTGGGAGGCTGAGGCGGGCAGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGAAACCCCGTCTCTACTAAAAATATAAAAATTGGCTGGGCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAAGCTAAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGATGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGGGCAAGCCTCCACCTCACCAAAAAAAAAAGAAAAAAAAAAAAAAAGAGCCACACC... | CGGAGGCCAGGTGCAGTGGCTCACACATGTAATCCTAGCACATTGGGAGGCTGAGGCGGGCAGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGAAACCCCGTCTCTACTAAAAATATAAAAATTGGCTGGGCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAAGCTAAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGATGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGGGCAAGCCTCCACCTCACCAAAAAAAAAAGAAAAAAAAAAAAAAAGAGCCACACC... | pathogenic | 284,065 |
The mutation impacting GALK1 (galactokinase 1) on chromosome 17 at position 75763430: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Deficiency_of_galactokinase'] | GAGGCTGAGGCGGGCAGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGAAACCCCGTCTCTACTAAAAATATAAAAATTGGCTGGGCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAAGCTAAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGATGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGGGCAAGCCTCCACCTCACCAAAAAAAAAAGAAAAAAAAAAAAAAAGAGCCACACCGAGATATGCCTTTCATGGCATAAGATAAGATAGGGTTCTGGGTTCT... | GAGGCTGAGGCGGGCAGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGAAACCCCGTCTCTACTAAAAATATAAAAATTGGCTGGGCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAAGCTAAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGATGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGGGCAAGCCTCCACCTCACCAAAAAAAAAAGAAAAAAAAAAAAAAAGAGCCACACCGAGATATGCCTTTCATGGCATAAGATAAGATAGGGTTCTGGGTTCT... | pathogenic | 284,066 |
Variant at chromosome position 75764045, chromosome 17, gene GALK1 (galactokinase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Deficiency_of_galactokinase'] | GTGACAAGACCGAAACTCTGTGTCCAAAAAAAAAACACGGCAAATGGGCTGGGCGCAGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGACCACTTGAGGCCAGAGTTCAGGATCAGCCTGGGCAACACTGCAAGACCGTCTTTACAAAGATAAAAATTAGCCGGGCATGGTGGCACACCTGTAATCTCAGCTACTTGGAAGGCTGAGCTGGGAGGATCCCTTGAGCTCAAGAGTTCAAGTTTGCAGTAAGCTATGATCACACCACTACACTCCAGCTTGGGCAACAGAATGAGACCCTGCCTC... | GTGACAAGACCGAAACTCTGTGTCCAAAAAAAAAACACGGCAAATGGGCTGGGCGCAGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGACCACTTGAGGCCAGAGTTCAGGATCAGCCTGGGCAACACTGCAAGACCGTCTTTACAAAGATAAAAATTAGCCGGGCATGGTGGCACACCTGTAATCTCAGCTACTTGGAAGGCTGAGCTGGGAGGATCCCTTGAGCTCAAGAGTTCAAGTTTGCAGTAAGCTATGATCACACCACTACACTCCAGCTTGGGCAACAGAATGAGACCCTGCCTC... | pathogenic | 284,073 |
Variant at chromosome 17, position 75765033, gene GALK1 (galactokinase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Deficiency_of_galactokinase'] | CGGGAGGGGACGAGGGGAGCGAGCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTG... | CGGGAGGGGACGAGGGGAGCGAGCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTG... | pathogenic | 284,077 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 75828790, gene UNC13D (unc-13 homolog D). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis', 'Familial_hemophagocytic_lymphohistiocytosis_3', 'UNC13D-related_disorder'] | GCATGGTCTCGGGCCTTGGATGTCATCTCAGCTAACCTCGACTCCTGTCCTCATTTTGTGCAGACTCAGAGGTTCCGACATGGAACCAGGGTCACACAGCTAGGATGACGTGATGACCAGGCCTCAGGTTCTGACACCCCCCAGGCAGGGGAGGGACCCAGCTCCTCTACGCCCTACTGTCTCAAGAGCAGCCCCTCAGCCTCAACCTGCACCCCTGGGAGGCCCCTGCTCACTGTGCTCCCCCGAGGAACGGGTCCCTGTCCTGGGTGTCACCACAGGAACTGGTATGCCTGGTAAAGCAATTTATTCAAAGCCCACGG... | GCATGGTCTCGGGCCTTGGATGTCATCTCAGCTAACCTCGACTCCTGTCCTCATTTTGTGCAGACTCAGAGGTTCCGACATGGAACCAGGGTCACACAGCTAGGATGACGTGATGACCAGGCCTCAGGTTCTGACACCCCCCAGGCAGGGGAGGGACCCAGCTCCTCTACGCCCTACTGTCTCAAGAGCAGCCCCTCAGCCTCAACCTGCACCCCTGGGAGGCCCCTGCTCACTGTGCTCCCCCGAGGAACGGGTCCCTGTCCTGGGTGTCACCACAGGAACTGGTATGCCTGGTAAAGCAATTTATTCAAAGCCCACGG... | pathogenic | 284,091 |
Considering the genetic mutation at chromosome 17, position 75830359, impacting UNC13D: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_3'] | GCAGCGAGGGGCTGAGATGTGCCTGAGGTTTGACTATTACCTTTTTATACGAGAACCTAAAGCTAGCAAGTTAACCTTTTCATGCCTCGGTTTACTCATCTGTAAAAGAGTGCTAATATCTGCTTCGTTGGCTGGAATGCATAAAGTGCTTAGCACTTGCTCATAATAAGTGCACAAGCATCAGACCGTTGCTGGTATCAAAAATGCTCTGCAGGGAAGCGGCCCCGCCGAGTGAGATCCAGGCCCTTCTCCCCAGTTAAACTTCTTGGTGACTTCCCCATGCAAGGAGAGTCACGTTACACTTAGCTTAAAGTTCACTG... | GCAGCGAGGGGCTGAGATGTGCCTGAGGTTTGACTATTACCTTTTTATACGAGAACCTAAAGCTAGCAAGTTAACCTTTTCATGCCTCGGTTTACTCATCTGTAAAAGAGTGCTAATATCTGCTTCGTTGGCTGGAATGCATAAAGTGCTTAGCACTTGCTCATAATAAGTGCACAAGCATCAGACCGTTGCTGGTATCAAAAATGCTCTGCAGGGAAGCGGCCCCGCCGAGTGAGATCCAGGCCCTTCTCCCCAGTTAAACTTCTTGGTGACTTCCCCATGCAAGGAGAGTCACGTTACACTTAGCTTAAAGTTCACTG... | pathogenic | 284,096 |
Evaluate if the mutation on chromosome 17 at position 75831355 in UNC13D (unc-13 homolog D) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TTTTTCTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTACAACCTCCGCCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCGTGTCCCACCACACCCAGCTAATTTTTTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCACGCCTGGCCCTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGT... | TTTTTCTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTACAACCTCCGCCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCGTGTCCCACCACACCCAGCTAATTTTTTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCACGCCTGGCCCTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGT... | benign | 284,106 |
The genetic variant at chromosome 17, position 75833031, affecting gene UNC13D (unc-13 homolog D): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_3'] | AGTTTTTCATTTTGTACTGGGCCCCATAAATTATGTAGCCGACCCTGGACATAGGTGAGTGCCAAAAGGCAGGCTCCCCAGACTTCCTACGGGGAAGCTCACCCAAAGCCCCTACCTGGAAGGTGGCAGTGTGCAGGGCCTTGGGTGGCAGGCCACAGCCCTCAGCGTGGAAGCAGATCTCCAGGTTCTGGGGGAGATATCAGAGGTGACCCCAGGCACCCTCCCACCAGGGTTATCATTGCTGTGACCGGTTCTGTTACCTGCAGGGCAATCTTCAGCCTGTTGGAAGCCAGGGATGAGCTGCGCTGGGAGGCGGCCGC... | AGTTTTTCATTTTGTACTGGGCCCCATAAATTATGTAGCCGACCCTGGACATAGGTGAGTGCCAAAAGGCAGGCTCCCCAGACTTCCTACGGGGAAGCTCACCCAAAGCCCCTACCTGGAAGGTGGCAGTGTGCAGGGCCTTGGGTGGCAGGCCACAGCCCTCAGCGTGGAAGCAGATCTCCAGGTTCTGGGGGAGATATCAGAGGTGACCCCAGGCACCCTCCCACCAGGGTTATCATTGCTGTGACCGGTTCTGTTACCTGCAGGGCAATCTTCAGCCTGTTGGAAGCCAGGGATGAGCTGCGCTGGGAGGCGGCCGC... | pathogenic | 284,109 |
Chromosome 17, position 75834092, gene UNC13D (unc-13 homolog D): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autoinflammatory_syndrome', 'Familial_hemophagocytic_lymphohistiocytosis', 'Familial_hemophagocytic_lymphohistiocytosis_3'] | GAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAAAATATATATACATGGTTTAAGAAATAAAAACGGCCGGGCTCCGAGGGGCCCTGGCTTATACCTCTGGGGGTGGAACAGAACTCTAGGAGGGCTGCGGCCTCTTCAGGGCCCAGATTCCACAGGGAGGTGGGGCGCTGTCATCATCATCGTCACTACCGCTAATAGTCACTGACCACTTCCTTTGTACTGACACCACGCTCAGCACCTCACATGACCCATTTAATCCTCAACAGAA... | GAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAAAATATATATACATGGTTTAAGAAATAAAAACGGCCGGGCTCCGAGGGGCCCTGGCTTATACCTCTGGGGGTGGAACAGAACTCTAGGAGGGCTGCGGCCTCTTCAGGGCCCAGATTCCACAGGGAGGTGGGGCGCTGTCATCATCATCGTCACTACCGCTAATAGTCACTGACCACTTCCTTTGTACTGACACCACGCTCAGCACCTCACATGACCCATTTAATCCTCAACAGAA... | pathogenic | 284,110 |
Chromosome 17, position 75834356, gene UNC13D (unc-13 homolog D): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_3'] | CTTTGTACTGACACCACGCTCAGCACCTCACATGACCCATTTAATCCTCAACAGAAGCCAGAACTACTCTCATCTGCACCGGGAACTTGCCCAAGGCTGCTAAGCAGTGATGAAGCCGGAGTCTGAACCCAGGTGGTCCAGAGCCCATGTGCTGGACTCCACCGCCTGTTGCCTGGCATGCTGGGTCCCTGCTATAAGACACCCTAGCTAGAAGTTCTCCCTGCACCGTGGGCAGGGACCACCTGTAACCTAATGGGGGCAGAGGAGCAGGCAGGGAGGCCCTGAAGACAGGCCTGGGACTAAAGGAGAAAGGACAGGTA... | CTTTGTACTGACACCACGCTCAGCACCTCACATGACCCATTTAATCCTCAACAGAAGCCAGAACTACTCTCATCTGCACCGGGAACTTGCCCAAGGCTGCTAAGCAGTGATGAAGCCGGAGTCTGAACCCAGGTGGTCCAGAGCCCATGTGCTGGACTCCACCGCCTGTTGCCTGGCATGCTGGGTCCCTGCTATAAGACACCCTAGCTAGAAGTTCTCCCTGCACCGTGGGCAGGGACCACCTGTAACCTAATGGGGGCAGAGGAGCAGGCAGGGAGGCCCTGAAGACAGGCCTGGGACTAAAGGAGAAAGGACAGGTA... | pathogenic | 284,114 |
Is the genetic change at chromosome 17, position 75834671, within gene UNC13D (unc-13 homolog D) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_3'] | AGGTAGATTTTGGCTCAGCCTAAGGAAGAACTCAAAGCACTCAGAGCTAGGCAGCAGGAAATGGGGAGGCCTGAGAAGTGGCAAGCTCCCCGTCCCTGCAGCGAGCCTTAGCAGAGCCTGTTGCACCCATAAGGGAGGTCACCAAAGGGATTCACCTCCACCCCTCAGAACGGATGCTGAGGCCCAGGAAAGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACACCCCTCAGAACGGATGCTGGGGCCCAGGAAGGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGC... | AGGTAGATTTTGGCTCAGCCTAAGGAAGAACTCAAAGCACTCAGAGCTAGGCAGCAGGAAATGGGGAGGCCTGAGAAGTGGCAAGCTCCCCGTCCCTGCAGCGAGCCTTAGCAGAGCCTGTTGCACCCATAAGGGAGGTCACCAAAGGGATTCACCTCCACCCCTCAGAACGGATGCTGAGGCCCAGGAAAGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACACCCCTCAGAACGGATGCTGGGGCCCAGGAAGGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGC... | pathogenic | 284,117 |
Determine if the mutation at chromosome 17, position 75835417 in gene UNC13D (unc-13 homolog D) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_3'] | CTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGGGACCTAA... | CTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGGGACCTAA... | pathogenic | 284,122 |
Regarding the variant found on chromosome 17 at position 75836639 in gene UNC13D (unc-13 homolog D): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autoinflammatory_syndrome', 'Familial_hemophagocytic_lymphohistiocytosis_3'] | GACTCCCAGCCCCAGCTCTGGCCTTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAG... | GACTCCCAGCCCCAGCTCTGGCCTTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAG... | pathogenic | 284,136 |
Variant in UNC13D (unc-13 homolog D), chromosome 17, position 75837006—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAAC... | GGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAAC... | benign | 284,139 |
Is the variant located on chromosome 17 at position 75840320, gene UNC13D (unc-13 homolog D), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_3'] | GCAGTGGTGTGATCTCAGGTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCGTGCCTCACCCTCCCGAGTAGCTGGGATTACAGACATGCGCCCCCACACCTGACTAATTTTTCTATATTTTGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACTTCAAGTGATCTGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCGCGAGCCACCGTGCCCGGCCGGCTATGTCCCATCTCTGCCCTACTCACATGCACTGGAATGGCTGTGACCCCCTGTGCCCTCCCCGGCATTCC... | GCAGTGGTGTGATCTCAGGTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCGTGCCTCACCCTCCCGAGTAGCTGGGATTACAGACATGCGCCCCCACACCTGACTAATTTTTCTATATTTTGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACTTCAAGTGATCTGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCGCGAGCCACCGTGCCCGGCCGGCTATGTCCCATCTCTGCCCTACTCACATGCACTGGAATGGCTGTGACCCCCTGTGCCCTCCCCGGCATTCC... | pathogenic | 284,150 |
Evaluate this variant at chromosome 17, position 75840551, gene UNC13D (unc-13 homolog D): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis', 'Familial_hemophagocytic_lymphohistiocytosis_3'] | GCCACCGTGCCCGGCCGGCTATGTCCCATCTCTGCCCTACTCACATGCACTGGAATGGCTGTGACCCCCTGTGCCCTCCCCGGCATTCCTAGGACTTGACGTGAGTTGCCCTCAACATAGATTTGTCCTTATCAGCGCGTAGTTTTGCTGAGTTGAAGGCTATGGCATTGGGAAGCGGGGCTGGGGTTAGGGACCGGGTCCAAATTCAAATGCCCAGGACTCAGGAGACGAAAGCAACTGAAGTGGGCCCAATGGCAGCCATGATGGGCAGAGGCACACACATCGCTCCGCTCTGTCCACTCAAAAAAGCAGCAAAGGCT... | GCCACCGTGCCCGGCCGGCTATGTCCCATCTCTGCCCTACTCACATGCACTGGAATGGCTGTGACCCCCTGTGCCCTCCCCGGCATTCCTAGGACTTGACGTGAGTTGCCCTCAACATAGATTTGTCCTTATCAGCGCGTAGTTTTGCTGAGTTGAAGGCTATGGCATTGGGAAGCGGGGCTGGGGTTAGGGACCGGGTCCAAATTCAAATGCCCAGGACTCAGGAGACGAAAGCAACTGAAGTGGGCCCAATGGCAGCCATGATGGGCAGAGGCACACACATCGCTCCGCTCTGTCCACTCAAAAAAGCAGCAAAGGCT... | pathogenic | 284,156 |
Evaluate if the mutation on chromosome 17 at position 75840817 in UNC13D (unc-13 homolog D) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_3'] | GGCAGAGGCACACACATCGCTCCGCTCTGTCCACTCAAAAAAGCAGCAAAGGCTGGGCGCGGTGGCACGCGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCGGCCTGGGCGAAAGAGCAA... | GGCAGAGGCACACACATCGCTCCGCTCTGTCCACTCAAAAAAGCAGCAAAGGCTGGGCGCGGTGGCACGCGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCGGCCTGGGCGAAAGAGCAA... | pathogenic | 284,158 |
Does the variant on chromosome 17 at location 75844258 affecting gene UNC13D (unc-13 homolog D) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_3'] | TGACCCTCCTTGCCCCATCAGCACGTGTGGCATTGATCTTGTTCTGTCCCATCTGACCTACTGTCCACCTAACGTGCCTGGAGATGGGCTTCTCCTCTAGTCTTTGCCCAGGGCCAAACCCCCTCCCCTGAGCCAGGACGACCTACTCATCTCATTGTCTGGGGCAGACCCTGCTACCCAGGAAAGACCTGGATAGAGTGGGGGCTGGAGCACGGCCACGTACAGGATGAAGGTCTCGTCCCAGACGGGGTTGAGTGTCTGGGTGATGACCTGCGTGCGGTGGGTCTCCTCCTCGGGGATGGTGTGCCTCACCACAGCCT... | TGACCCTCCTTGCCCCATCAGCACGTGTGGCATTGATCTTGTTCTGTCCCATCTGACCTACTGTCCACCTAACGTGCCTGGAGATGGGCTTCTCCTCTAGTCTTTGCCCAGGGCCAAACCCCCTCCCCTGAGCCAGGACGACCTACTCATCTCATTGTCTGGGGCAGACCCTGCTACCCAGGAAAGACCTGGATAGAGTGGGGGCTGGAGCACGGCCACGTACAGGATGAAGGTCTCGTCCCAGACGGGGTTGAGTGTCTGGGTGATGACCTGCGTGCGGTGGGTCTCCTCCTCGGGGATGGTGTGCCTCACCACAGCCT... | pathogenic | 284,182 |
Evaluate if the mutation on chromosome 17 at position 75948393 in ACOX1 (acyl-CoA oxidase 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Acyl-CoA_oxidase_deficiency', 'Mitchell_syndrome'] | GAAGGGTTCTACACCACTTCAAAAATACCTTTGCTTAAAAACACTTATATAGCCAGTGATTAGCAATTAAAATGTGAAAATAATCAACTACTCAGTAGTTAAATTCTGCTAATTATCAAAAGTCATAGTCTACTGGGATCAGCAGCATTACAAAAGGAAGTCATATCGCATTTCTTAAGCTTTTTCTGAATGGTTTAACAGGTCTCTTTCAGTGTTAATTGCACTTAAAACATCTGCTTTTTTTCATTTAATCTCTGAAATCTGTTCATTTTTTCCCTCCATTTATAAAAAGGGGTCAATTTATCATTTGCTCTATAGCT... | GAAGGGTTCTACACCACTTCAAAAATACCTTTGCTTAAAAACACTTATATAGCCAGTGATTAGCAATTAAAATGTGAAAATAATCAACTACTCAGTAGTTAAATTCTGCTAATTATCAAAAGTCATAGTCTACTGGGATCAGCAGCATTACAAAAGGAAGTCATATCGCATTTCTTAAGCTTTTTCTGAATGGTTTAACAGGTCTCTTTCAGTGTTAATTGCACTTAAAACATCTGCTTTTTTTCATTTAATCTCTGAAATCTGTTCATTTTTTCCCTCCATTTATAAAAAGGGGTCAATTTATCATTTGCTCTATAGCT... | pathogenic | 284,212 |
Gene ACOX1 (acyl-CoA oxidase 1) variant at chromosome position 75948458 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Acyl-CoA_oxidase_deficiency', 'Mitchell_syndrome'] | ATTAAAATGTGAAAATAATCAACTACTCAGTAGTTAAATTCTGCTAATTATCAAAAGTCATAGTCTACTGGGATCAGCAGCATTACAAAAGGAAGTCATATCGCATTTCTTAAGCTTTTTCTGAATGGTTTAACAGGTCTCTTTCAGTGTTAATTGCACTTAAAACATCTGCTTTTTTTCATTTAATCTCTGAAATCTGTTCATTTTTTCCCTCCATTTATAAAAAGGGGTCAATTTATCATTTGCTCTATAGCTATTTGAATTCGAAAAAGATTCCACAAAATTTGAGTTGCACACAGGCGCTTTCTGAAGCAGATTAA... | ATTAAAATGTGAAAATAATCAACTACTCAGTAGTTAAATTCTGCTAATTATCAAAAGTCATAGTCTACTGGGATCAGCAGCATTACAAAAGGAAGTCATATCGCATTTCTTAAGCTTTTTCTGAATGGTTTAACAGGTCTCTTTCAGTGTTAATTGCACTTAAAACATCTGCTTTTTTTCATTTAATCTCTGAAATCTGTTCATTTTTTCCCTCCATTTATAAAAAGGGGTCAATTTATCATTTGCTCTATAGCTATTTGAATTCGAAAAAGATTCCACAAAATTTGAGTTGCACACAGGCGCTTTCTGAAGCAGATTAA... | pathogenic | 284,214 |
A mutation at chromosome position 75949227 on chromosome 17 in gene ACOX1 (acyl-CoA oxidase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Acyl-CoA_oxidase_deficiency', 'Mitchell_syndrome'] | TTCTGAAGAGTCCTTATCTTTTAGAGCTATGCATTGAATTATTTATGGATAAAATTATCTGATGTCTTAGTTTTTTTTTTTTTTTTGAAACGGAGCCTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGGTCTCGGCTCACCGCAACCTCCGCCTCCCAGGCTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAAACAAGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTC... | TTCTGAAGAGTCCTTATCTTTTAGAGCTATGCATTGAATTATTTATGGATAAAATTATCTGATGTCTTAGTTTTTTTTTTTTTTTTGAAACGGAGCCTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGGTCTCGGCTCACCGCAACCTCCGCCTCCCAGGCTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAAACAAGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTC... | pathogenic | 284,218 |
Is the chromosome 17, position 75949237 variant in ACOX1 (acyl-CoA oxidase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Acyl-CoA_oxidase_deficiency', 'Mitchell_syndrome'] | TCCTTATCTTTTAGAGCTATGCATTGAATTATTTATGGATAAAATTATCTGATGTCTTAGTTTTTTTTTTTTTTTTGAAACGGAGCCTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGGTCTCGGCTCACCGCAACCTCCGCCTCCCAGGCTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAAACAAGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAG... | TCCTTATCTTTTAGAGCTATGCATTGAATTATTTATGGATAAAATTATCTGATGTCTTAGTTTTTTTTTTTTTTTTGAAACGGAGCCTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGGTCTCGGCTCACCGCAACCTCCGCCTCCCAGGCTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAAACAAGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAG... | pathogenic | 284,219 |
Variant in ACOX1 (acyl-CoA oxidase 1), chromosome 17, position 75949576—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Acyl-CoA_oxidase_deficiency'] | GCCCTGATGTCTTAGATTTATTTCAAAATAGTCCCCAGGAGGAGGGGGATGAAGGTTCAGATGAAACACAACTAGCCACGAGTTGATAGTCATTGCTGCTAGACAAAGGGTGTACCAAAGAGCACTACGGAATTCTCTTTTTGTATATTTTATTCTATTTGTGTGTGTGTGTGTGTGTGTATACTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGAACGTGGCTCACTGCAACCTCCGCCTCCTGGGTTCTCCTGGGTTCAAGCTGAGGCAGGAGAATTCCCGAGTAGC... | GCCCTGATGTCTTAGATTTATTTCAAAATAGTCCCCAGGAGGAGGGGGATGAAGGTTCAGATGAAACACAACTAGCCACGAGTTGATAGTCATTGCTGCTAGACAAAGGGTGTACCAAAGAGCACTACGGAATTCTCTTTTTGTATATTTTATTCTATTTGTGTGTGTGTGTGTGTGTGTATACTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGAACGTGGCTCACTGCAACCTCCGCCTCCTGGGTTCTCCTGGGTTCAAGCTGAGGCAGGAGAATTCCCGAGTAGC... | pathogenic | 284,222 |
Assess the variant on chromosome 17, position 75949883, impacting ACOX1 (acyl-CoA oxidase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Acyl-CoA_oxidase_deficiency', 'Mitchell_syndrome'] | ATTCCCGAGTAGCTGGGACTACAGCCGTGCACCATTACTGCCTGGCTGCTTTTTTTGTATTTTTAGTAGAGATTGGGTTTCGCCATTTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACTCGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCAACGCACCCGGCCTGTATATATTTTTAAATGTTCAATTCGTTATCAAAAATTGAAATTGATTAAGACCCTGGTTACTGTGGGAACAACCCAGTTCCCTTCTGAACCTGTTGCTCAAATAAAGTGACTGTCAGAAGTGGCCATGGTACTTT... | ATTCCCGAGTAGCTGGGACTACAGCCGTGCACCATTACTGCCTGGCTGCTTTTTTTGTATTTTTAGTAGAGATTGGGTTTCGCCATTTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACTCGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCAACGCACCCGGCCTGTATATATTTTTAAATGTTCAATTCGTTATCAAAAATTGAAATTGATTAAGACCCTGGTTACTGTGGGAACAACCCAGTTCCCTTCTGAACCTGTTGCTCAAATAAAGTGACTGTCAGAAGTGGCCATGGTACTTT... | pathogenic | 284,227 |
Benign or pathogenic: chromosome 17, position 75950794, gene ACOX1 (acyl-CoA oxidase 1) variant? Disease(s) if pathogenic? | pathogenic; ['Acyl-CoA_oxidase_deficiency', 'Mitchell_syndrome'] | GTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCTATTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTATTGCTCTGTCACCCAGGCTGGAATGCAGTGGTTTCATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAATGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACTGCACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGCCA... | GTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCTATTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTATTGCTCTGTCACCCAGGCTGGAATGCAGTGGTTTCATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAATGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACTGCACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGCCA... | pathogenic | 284,229 |
Does the variant impacting ACOX1 (acyl-CoA oxidase 1) on chromosome 17, position 75953486, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Acyl-CoA_oxidase_deficiency', 'Mitchell_syndrome'] | CTTGACCAATGCCTTCGTTAATCCGGTGATAGGTCTCCTTCATGTATGCGCCCACAAACTGGAAGGCATAGGCAGTGGCCAGGAGTGGAAAGAGTTTATACTGCTGGGTTTGAAAATCCAAAATCTGTGGTTCTGGTTCACTACGTGACATAGAAAAAGAAAAAAAGTAGTAAGTAAATGTTTATACAGAACTTTCTATATGCCAGGTTCTAATCTAAGCACTTGGTATTTTAACTTATTTAGTCCTCTTAAGGGCACTGTGAGGTAGTTACTATTACTATCTCCATTTTACAAATGGGAAACTGAGAGGTTAAGAATCT... | CTTGACCAATGCCTTCGTTAATCCGGTGATAGGTCTCCTTCATGTATGCGCCCACAAACTGGAAGGCATAGGCAGTGGCCAGGAGTGGAAAGAGTTTATACTGCTGGGTTTGAAAATCCAAAATCTGTGGTTCTGGTTCACTACGTGACATAGAAAAAGAAAAAAAGTAGTAAGTAAATGTTTATACAGAACTTTCTATATGCCAGGTTCTAATCTAAGCACTTGGTATTTTAACTTATTTAGTCCTCTTAAGGGCACTGTGAGGTAGTTACTATTACTATCTCCATTTTACAAATGGGAAACTGAGAGGTTAAGAATCT... | pathogenic | 284,236 |
Variant in ACOX1 (acyl-CoA oxidase 1), chromosome 17, position 75978663—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Acyl-CoA_oxidase_deficiency', 'Mitchell_syndrome'] | CCAAAAATAAATAAACAAAATTTTTTCGTTTAAAACTGAGTGGAGCTCTGAGGAAAGTCCAAAGTGCCAGAGTAAACCATTTCATCTTCACAAAAATAACCCAAGTCAAGCTGAAAATCGATACCAAAGGCACTAGAGGCAGTGACCATTATTACCATAAAGGCAGAACGTGCAACATGTTCTATTTAGCTTGGTTCTAGTCTATACACCACTCATACGATTTAGTCTTTACCGATGAAAATACTGGAGTTCCTTTAAAATGGAGAAACCTAAAAGAGAAAATGCCCAGGAATAAATGAGAAAAAAATGCTATAGGCCAA... | CCAAAAATAAATAAACAAAATTTTTTCGTTTAAAACTGAGTGGAGCTCTGAGGAAAGTCCAAAGTGCCAGAGTAAACCATTTCATCTTCACAAAAATAACCCAAGTCAAGCTGAAAATCGATACCAAAGGCACTAGAGGCAGTGACCATTATTACCATAAAGGCAGAACGTGCAACATGTTCTATTTAGCTTGGTTCTAGTCTATACACCACTCATACGATTTAGTCTTTACCGATGAAAATACTGGAGTTCCTTTAAAATGGAGAAACCTAAAAGAGAAAATGCCCAGGAATAAATGAGAAAAAAATGCTATAGGCCAA... | pathogenic | 284,253 |
Determine if the mutation at chromosome 17, position 76540199 in gene PRCD is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinal_dystrophy'] | TTCGCGGCGAGGCCGACCGCCAGCCCGCCCGTGGGGGCGAACAGGAGCCCCTCCGGCGGCCGCCGTGGACCTAGCTGGGCTCCCCTCGCCCGGGCCTCTCCCCGCGCCCCCGAGCCAGCCGCTGGGGGCCGCGGCGCCACTCCCACGGCTCTGGACGCCCAGGCTCTGGGGGGTTAGCACGGGGGTCGTCCCCCTGCCCGCCCACCGCCCCGGCTGTCGGAACTTGAGCGCACCTCCGACCTCGGGCGCCAGAGGCCTGCGCCCCCTCTCCTTCCGCCCAGCACCTCCATGCCCTCGGTGCACGAACGCGGCGGCGGCGG... | TTCGCGGCGAGGCCGACCGCCAGCCCGCCCGTGGGGGCGAACAGGAGCCCCTCCGGCGGCCGCCGTGGACCTAGCTGGGCTCCCCTCGCCCGGGCCTCTCCCCGCGCCCCCGAGCCAGCCGCTGGGGGCCGCGGCGCCACTCCCACGGCTCTGGACGCCCAGGCTCTGGGGGGTTAGCACGGGGGTCGTCCCCCTGCCCGCCCACCGCCCCGGCTGTCGGAACTTGAGCGCACCTCCGACCTCGGGCGCCAGAGGCCTGCGCCCCCTCTCCTTCCGCCCAGCACCTCCATGCCCTCGGTGCACGAACGCGGCGGCGGCGG... | pathogenic | 284,338 |
A genetic variant at chromosome 17, position 76733059, affecting gene METTL23 (methyltransferase 23, arginine)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability', 'Intellectual_disability,_autosomal_recessive_44'] | AGGAGAATGGTGGGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGATAAAATTAGCCAGGCCTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTCAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAAAGAATAAAGAAATTTGGGTATCAGTTCTGGAGGCAGTGAAGTCCCAGGATGAA... | AGGAGAATGGTGGGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGATAAAATTAGCCAGGCCTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTCAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAAAGAATAAAGAAATTTGGGTATCAGTTCTGGAGGCAGTGAAGTCCCAGGATGAA... | pathogenic | 284,353 |
Does the variant impacting METTL23 (methyltransferase 23, arginine) on chromosome 17, position 76733063, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_recessive_44'] | GAATGGTGGGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGATAAAATTAGCCAGGCCTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTCAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAAAGAATAAAGAAATTTGGGTATCAGTTCTGGAGGCAGTGAAGTCCCAGGATGAAAGTC... | GAATGGTGGGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGATAAAATTAGCCAGGCCTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTCAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAAAGAATAAAGAAATTTGGGTATCAGTTCTGGAGGCAGTGAAGTCCCAGGATGAAAGTC... | pathogenic | 284,354 |
Is the genetic change at chromosome 17, position 76733543, within gene METTL23 (methyltransferase 23, arginine) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Intellectual_disability'] | CCCACATCAGATGGGTAATTAGGATTTGAACATATGAATTTTGGGTGAACACATTCAGACCGTAGTGTAGCCCTTTCTGTTTTTGGAAATGTTGAGATTAGTGTAAAAATGTATCCCATTCTCTTTCTAACCTCACTACCTGGCCTCAGACTGGTGAAGGCTTGGAAAAACCAATTTTATCACATTTGCAGAAATAGACTTTCACACCATACTTAAGACCAAAGGCTAAATAGACAAACCAGAAGCTTAATATTAACATCCCACTCTTAACTTTTACTACACCAAGTAAATGAAATTAGGGGTAGGATTTGGCACACACC... | CCCACATCAGATGGGTAATTAGGATTTGAACATATGAATTTTGGGTGAACACATTCAGACCGTAGTGTAGCCCTTTCTGTTTTTGGAAATGTTGAGATTAGTGTAAAAATGTATCCCATTCTCTTTCTAACCTCACTACCTGGCCTCAGACTGGTGAAGGCTTGGAAAAACCAATTTTATCACATTTGCAGAAATAGACTTTCACACCATACTTAAGACCAAAGGCTAAATAGACAAACCAGAAGCTTAATATTAACATCCCACTCTTAACTTTTACTACACCAAGTAAATGAAATTAGGGGTAGGATTTGGCACACACC... | pathogenic | 284,356 |
Does the variant impacting METTL23 (methyltransferase 23, arginine) on chromosome 17, position 76733582, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Intellectual_disability,_autosomal_recessive_44'] | TTTGGGTGAACACATTCAGACCGTAGTGTAGCCCTTTCTGTTTTTGGAAATGTTGAGATTAGTGTAAAAATGTATCCCATTCTCTTTCTAACCTCACTACCTGGCCTCAGACTGGTGAAGGCTTGGAAAAACCAATTTTATCACATTTGCAGAAATAGACTTTCACACCATACTTAAGACCAAAGGCTAAATAGACAAACCAGAAGCTTAATATTAACATCCCACTCTTAACTTTTACTACACCAAGTAAATGAAATTAGGGGTAGGATTTGGCACACACCTCTGGTCCTAGTTGTAATTGCTGGGCACTCACAATAATT... | TTTGGGTGAACACATTCAGACCGTAGTGTAGCCCTTTCTGTTTTTGGAAATGTTGAGATTAGTGTAAAAATGTATCCCATTCTCTTTCTAACCTCACTACCTGGCCTCAGACTGGTGAAGGCTTGGAAAAACCAATTTTATCACATTTGCAGAAATAGACTTTCACACCATACTTAAGACCAAAGGCTAAATAGACAAACCAGAAGCTTAATATTAACATCCCACTCTTAACTTTTACTACACCAAGTAAATGAAATTAGGGGTAGGATTTGGCACACACCTCTGGTCCTAGTTGTAATTGCTGGGCACTCACAATAATT... | pathogenic | 284,357 |
Does the chromosome 17 mutation at position 77498705 within gene SEPTIN9 (septin 9) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GGCCACTGTCCCGAGCTTGGGCTTGTATGTATTGTGTGAAGTGCACATGTCCCTGAGCAATGTTTAGCATTGCTGATTCTTGAGCTTGTGAATGGTCGTCCACAGTACGTAGCCCCTGTGTGTGTCCCTGTGTGTGTGTGCTCTGAGCGCACACAAGGTGGATGGGGCCGTGGGGGTAACACCCTGTGGGCCACAGGTTTTCTTTAAAATCCCAGCTCCGATTCCTGCTTCATCCCATTCCCAGCAGCCCAGCCCCCTGCCTGTCTTCAGGCCCCTGCTGGGACGTCCTGCTCTCCCTGGTCACCCCAGTGGTGCGGGGG... | GGCCACTGTCCCGAGCTTGGGCTTGTATGTATTGTGTGAAGTGCACATGTCCCTGAGCAATGTTTAGCATTGCTGATTCTTGAGCTTGTGAATGGTCGTCCACAGTACGTAGCCCCTGTGTGTGTCCCTGTGTGTGTGTGCTCTGAGCGCACACAAGGTGGATGGGGCCGTGGGGGTAACACCCTGTGGGCCACAGGTTTTCTTTAAAATCCCAGCTCCGATTCCTGCTTCATCCCATTCCCAGCAGCCCAGCCCCCTGCCTGTCTTCAGGCCCCTGCTGGGACGTCCTGCTCTCCCTGGTCACCCCAGTGGTGCGGGGG... | benign | 284,456 |
Does the genetic variant at chromosome 17, position 77498705, impacting gene SEPTIN9 (septin 9), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GGCCACTGTCCCGAGCTTGGGCTTGTATGTATTGTGTGAAGTGCACATGTCCCTGAGCAATGTTTAGCATTGCTGATTCTTGAGCTTGTGAATGGTCGTCCACAGTACGTAGCCCCTGTGTGTGTCCCTGTGTGTGTGTGCTCTGAGCGCACACAAGGTGGATGGGGCCGTGGGGGTAACACCCTGTGGGCCACAGGTTTTCTTTAAAATCCCAGCTCCGATTCCTGCTTCATCCCATTCCCAGCAGCCCAGCCCCCTGCCTGTCTTCAGGCCCCTGCTGGGACGTCCTGCTCTCCCTGGTCACCCCAGTGGTGCGGGGG... | GGCCACTGTCCCGAGCTTGGGCTTGTATGTATTGTGTGAAGTGCACATGTCCCTGAGCAATGTTTAGCATTGCTGATTCTTGAGCTTGTGAATGGTCGTCCACAGTACGTAGCCCCTGTGTGTGTCCCTGTGTGTGTGTGCTCTGAGCGCACACAAGGTGGATGGGGCCGTGGGGGTAACACCCTGTGGGCCACAGGTTTTCTTTAAAATCCCAGCTCCGATTCCTGCTTCATCCCATTCCCAGCAGCCCAGCCCCCTGCCTGTCTTCAGGCCCCTGCTGGGACGTCCTGCTCTCCCTGGTCACCCCAGTGGTGCGGGGG... | benign | 284,457 |
Variant in gene TMC6 (transmembrane channel like 6), located at chromosome 17 position 78119397: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TGCGGGAGAGGGGCTGTCGGGCAGGGCCCAGGGCCACAGCCCGGGAGCGGCCAGTCCCCACACGGTGCAGGCCCAGCGAGGGCCATCTCCCCAGGGCCGCCCCCACCTGCGGGACTCACAGCAGCAGGGCTGACACCAGGAAGACAAAGAAGGTGTTTTCCATCAGGTACCGGTGCACCCAGGGCAGCCAGGAGACCCTGGGGCCTGCCGCCTCCAGGTGGCGCACCCACACCCTGCCGGCCTCGTACATGGTGTCCAGGGTCCGGAAGGGGCCGCAGGTGCTCGAGGGCTTCACCCTGGGGAAGATGCCGACCAGGAAC... | TGCGGGAGAGGGGCTGTCGGGCAGGGCCCAGGGCCACAGCCCGGGAGCGGCCAGTCCCCACACGGTGCAGGCCCAGCGAGGGCCATCTCCCCAGGGCCGCCCCCACCTGCGGGACTCACAGCAGCAGGGCTGACACCAGGAAGACAAAGAAGGTGTTTTCCATCAGGTACCGGTGCACCCAGGGCAGCCAGGAGACCCTGGGGCCTGCCGCCTCCAGGTGGCGCACCCACACCCTGCCGGCCTCGTACATGGTGTCCAGGGTCCGGAAGGGGCCGCAGGTGCTCGAGGGCTTCACCCTGGGGAAGATGCCGACCAGGAAC... | benign | 284,490 |
Determine if the mutation at chromosome 17, position 78125143 in gene TMC6 (transmembrane channel like 6) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CCTTATCCATCCCCACTCTTATCTAACCTTCCCCTCTCAGGGCAAGTGCCGCCTCCCCTGGGAAGCAGCCTGACTCCTTCCCCAGTGCTCCCATAACACTGGGGAAACACCACTAAGCCTCATGGATTGTCCCAGCCCATTCAGTGGTCCATCTTCTCCCAGAGACAGCAAGCCCCCCTAGGACATTTACCATCCTGCCCTGAGCTGAGCACAGAGAATGTTTGTGGAATACGTAGATGCATGGGTGGATGGGTGGATGGATGGATGAATAAATGTGTGGGTGGATGGGTGGATGGATGAACGGATGGGTGGATGAATGG... | CCTTATCCATCCCCACTCTTATCTAACCTTCCCCTCTCAGGGCAAGTGCCGCCTCCCCTGGGAAGCAGCCTGACTCCTTCCCCAGTGCTCCCATAACACTGGGGAAACACCACTAAGCCTCATGGATTGTCCCAGCCCATTCAGTGGTCCATCTTCTCCCAGAGACAGCAAGCCCCCCTAGGACATTTACCATCCTGCCCTGAGCTGAGCACAGAGAATGTTTGTGGAATACGTAGATGCATGGGTGGATGGGTGGATGGATGGATGAATAAATGTGTGGGTGGATGGGTGGATGGATGAACGGATGGGTGGATGAATGG... | benign | 284,526 |
Clinical significance of chromosome 17, position 78134453, gene TMC8 (transmembrane channel like 8): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Epidermodysplasia_verruciformis', 'Epidermodysplasia_verruciformis,_susceptibility_to,_2'] | CCTGCTGCTACTCAACCTGCTGAGCCTGCTGCTCACCGCAAGCTTCGTGCTGCTGCCCCTGGTCTGGCTCCGCCCCCCTGACCCAGGCCCCACCCTGAACTTGAGTGAGTGTGAGGCCCACCAGGGGAAGTGCTCCGGTGCCCACCTGCGCCATGGGGGGGCTGGCCCAGGGCCCAGAGCGTGGCGACAACGCTGGGCGTGGTCCTGCCGTGCAGGCCCCGGGGCTCTCTCTCCCTGACCTCGCCTTGTGTGGGGCACGCCTTTGGCACATCCTCAGCCCCCTGCCCAGGCCTCCCCAGGGTTGGGGGTTATAGAGCAGT... | CCTGCTGCTACTCAACCTGCTGAGCCTGCTGCTCACCGCAAGCTTCGTGCTGCTGCCCCTGGTCTGGCTCCGCCCCCCTGACCCAGGCCCCACCCTGAACTTGAGTGAGTGTGAGGCCCACCAGGGGAAGTGCTCCGGTGCCCACCTGCGCCATGGGGGGGCTGGCCCAGGGCCCAGAGCGTGGCGACAACGCTGGGCGTGGTCCTGCCGTGCAGGCCCCGGGGCTCTCTCTCCCTGACCTCGCCTTGTGTGGGGCACGCCTTTGGCACATCCTCAGCCCCCTGCCCAGGCCTCCCCAGGGTTGGGGGTTATAGAGCAGT... | pathogenic | 284,561 |
Clinical classification of chromosome 17, position 78485764, gene DNAH17: benign or pathogenic? Disease(s) if pathogenic? | benign | GCCTGCCTTTCTCGGCATGAGGCCAGGCTTCATGAACGAGCAGACTAGTTTCTAGGCTCTTTTGGCCTGAGCTACTTGCTTATTTTAAGAGACAACTATGGCTGGGCACGGTGGCTCACACCTCTAATCCCAGCACTTTGTGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGAACAGCCTGGCCAACATGGCGAAACCCCTTCTCTACTAAAAGTACAAAAATTAGCCGGCGTGGTGGTGGGCACCTGTATTACCAGCTACTCAGGAGGCTGAGGAAGGAGAATTCCTTGAACCCAGGAGGCGGAGGTTG... | GCCTGCCTTTCTCGGCATGAGGCCAGGCTTCATGAACGAGCAGACTAGTTTCTAGGCTCTTTTGGCCTGAGCTACTTGCTTATTTTAAGAGACAACTATGGCTGGGCACGGTGGCTCACACCTCTAATCCCAGCACTTTGTGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGAACAGCCTGGCCAACATGGCGAAACCCCTTCTCTACTAAAAGTACAAAAATTAGCCGGCGTGGTGGTGGGCACCTGTATTACCAGCTACTCAGGAGGCTGAGGAAGGAGAATTCCTTGAACCCAGGAGGCGGAGGTTG... | benign | 284,687 |
Regarding the variant at chromosome 17 and position 78993849, affecting gene CANT1 (calcium activated nucleotidase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['CANT1-related_disorder', 'Desbuquois_dysplasia_1'] | AGAGAGGGGAAGAAAAAAGGTGAGCTTTAAAGTAATCGCAAATCACTGCCTATGCGAAGAGGCTGCTTCCGGGCACCTGGGCTGTGACTCAGGTGCTGACATGAATACATCAGCAAGGTCTCAATTCAGCCACAGTCCCAAGTCCCCCAACCTTCCTGATTGCATCTCTATTTTAAATGACCCAGCCTGGACATCAAGGACAATGATCTAGGAGGCGGGTCAAGGAGACAGCCAGGCAAAGTCAGAACAGACTTGGGGCTTCCAGGCTATGCCCGGTGACAGCTGAGCTCTTCAGAAATGCGTCACATTCAGCGTTCACT... | AGAGAGGGGAAGAAAAAAGGTGAGCTTTAAAGTAATCGCAAATCACTGCCTATGCGAAGAGGCTGCTTCCGGGCACCTGGGCTGTGACTCAGGTGCTGACATGAATACATCAGCAAGGTCTCAATTCAGCCACAGTCCCAAGTCCCCCAACCTTCCTGATTGCATCTCTATTTTAAATGACCCAGCCTGGACATCAAGGACAATGATCTAGGAGGCGGGTCAAGGAGACAGCCAGGCAAAGTCAGAACAGACTTGGGGCTTCCAGGCTATGCCCGGTGACAGCTGAGCTCTTCAGAAATGCGTCACATTCAGCGTTCACT... | pathogenic | 284,830 |
Is the chromosome 17, position 78997274 variant in CANT1 (calcium activated nucleotidase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Desbuquois_dysplasia_1'] | CCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTC... | CCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTC... | pathogenic | 284,841 |
Variant chromosome 17, position 78997344, gene CANT1 (calcium activated nucleotidase 1): benign or pathogenic? Disease(s)? | pathogenic | CGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGC... | CGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGC... | pathogenic | 284,842 |
Considering the genetic mutation at chromosome 17, position 78997344, impacting CANT1 (calcium activated nucleotidase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Desbuquois_dysplasia_1', 'Inborn_genetic_diseases'] | CGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGC... | CGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGC... | pathogenic | 284,843 |
The chromosome 17, position 78997394 genetic variant in gene CANT1 (calcium activated nucleotidase 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Desbuquois_dysplasia_1', 'Epiphyseal_dysplasia,_multiple,_7'] | CCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTG... | CCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTG... | pathogenic | 284,846 |
A genetic alteration at chromosome 17, position 78997434, in gene CANT1 (calcium activated nucleotidase 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Desbuquois_dysplasia_1', 'Epiphyseal_dysplasia,_multiple,_7'] | CCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTA... | CCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTA... | pathogenic | 284,849 |
Gene CANT1 (calcium activated nucleotidase 1) variant at chromosome 17, position 78997551—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Desbuquois_dysplasia_1', 'Epiphyseal_dysplasia,_multiple,_7'] | GAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAA... | GAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAA... | pathogenic | 284,852 |
Gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit) variant at chromosome position 80039965 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['CCDC40-related_disorder', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_15'] | AGCTTTGCTTTTGTGGCATCTCCGCCACCTGACAGGCATGATATAGTGCTATGGTTCCTGACAAACAGGACAAAGACGTGACAACAGCCTGGGGGTGGCAGAGAAGTAACAAGTAAATAAACAGATGTGCAGAATTCAGGAGGGGATAAGGACCAAGAAAAAGAAAGCTGTTGCTTGAAACTGTTCAATTGTTTCTCTAAAACCAGGTCCCATCCGGAAGATGGATCGGCTTCTGAGGGAGAGAAGGAAGGGAATAATGAAAGCCACATGGTAAAATTCCCTATGGGCAGTTATTCCGGGCTTATATTTACTAGGAATTA... | AGCTTTGCTTTTGTGGCATCTCCGCCACCTGACAGGCATGATATAGTGCTATGGTTCCTGACAAACAGGACAAAGACGTGACAACAGCCTGGGGGTGGCAGAGAAGTAACAAGTAAATAAACAGATGTGCAGAATTCAGGAGGGGATAAGGACCAAGAAAAAGAAAGCTGTTGCTTGAAACTGTTCAATTGTTTCTCTAAAACCAGGTCCCATCCGGAAGATGGATCGGCTTCTGAGGGAGAGAAGGAAGGGAATAATGAAAGCCACATGGTAAAATTCCCTATGGGCAGTTATTCCGGGCTTATATTTACTAGGAATTA... | pathogenic | 284,901 |
The mutation in gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit) at chromosome 17, position 80048574—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTTACTCAATAATAATAATAATAATAATAATAAAAGAGTGGTTTCTGCGTGTCTGCATCTGTAGCTAAGTGTAAACACCCAGGCACGAGAATGCATGGGTCCTGGGATCTTTTGCTCCCACATGCTGAGCGCCTCGAGGATGGGAAACCACAACTCTGAGCACCCTCTTCATGAAAGCATGCGGAAAAGCCTCGGCTCCTGGCCAGGGTCTCCCAAGAGGACTGTTTCCTCTTCTCTCCTTTCAAACCAGCCCCCTTTAGGGAAATTTCAATAAGAAAATGTCTTCCCTTCATAAAAACACCTGGCTCGATTTTAACTTT... | CTTACTCAATAATAATAATAATAATAATAATAAAAGAGTGGTTTCTGCGTGTCTGCATCTGTAGCTAAGTGTAAACACCCAGGCACGAGAATGCATGGGTCCTGGGATCTTTTGCTCCCACATGCTGAGCGCCTCGAGGATGGGAAACCACAACTCTGAGCACCCTCTTCATGAAAGCATGCGGAAAAGCCTCGGCTCCTGGCCAGGGTCTCCCAAGAGGACTGTTTCCTCTTCTCTCCTTTCAAACCAGCCCCCTTTAGGGAAATTTCAATAAGAAAATGTCTTCCCTTCATAAAAACACCTGGCTCGATTTTAACTTT... | benign | 284,930 |
Clinical significance of chromosome 17, position 80058954, gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_15'] | TGGCGGGCACCTGTGGTCCCAGCTACTCAGGAGACTGAGGCAGAAGAATGGCGTGAACCCGGGACGCAGAGCTTGCAGTGAGCCGAGATCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAGAAGAATAGCAAGTCCTCAAAGAGAACTTAGAGGAAATTACTTTGGAATTTAGCTACTGCAAGCTATATTAATGCACAGGTTGCTTTTTTTTTGAGACAGAGTCTCACTTTGTCACCCAGGCTGTAGTGCAGTGGCATGATCCTCCCACCTCAGCCTCCTGAGTAGTTGGGAT... | TGGCGGGCACCTGTGGTCCCAGCTACTCAGGAGACTGAGGCAGAAGAATGGCGTGAACCCGGGACGCAGAGCTTGCAGTGAGCCGAGATCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAGAAGAATAGCAAGTCCTCAAAGAGAACTTAGAGGAAATTACTTTGGAATTTAGCTACTGCAAGCTATATTAATGCACAGGTTGCTTTTTTTTTGAGACAGAGTCTCACTTTGTCACCCAGGCTGTAGTGCAGTGGCATGATCCTCCCACCTCAGCCTCCTGAGTAGTTGGGAT... | pathogenic | 284,964 |
Clinical classification of chromosome 17, position 80081958, gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit): benign or pathogenic? Disease(s) if pathogenic? | benign | GCGAGACTCTGTCTCAAAAAAAAAAATACTGGATGGCCAGGCGCAGTGGCCCACACCTGTAATTCCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAATCCCAGCTACTTGAGTGGCTTGAGGCTGCAGTGAGCTGAGATCATGCCATTGCACTCTAGCCTGGGTAACAGAGTGAGAGACTGTCTCAAAAAAAAAAAAAGAAAGAAAGGAATGAAAGGAATG... | GCGAGACTCTGTCTCAAAAAAAAAAATACTGGATGGCCAGGCGCAGTGGCCCACACCTGTAATTCCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAATCCCAGCTACTTGAGTGGCTTGAGGCTGCAGTGAGCTGAGATCATGCCATTGCACTCTAGCCTGGGTAACAGAGTGAGAGACTGTCTCAAAAAAAAAAAAAGAAAGAAAGGAATGAAAGGAATG... | benign | 284,987 |
The mutation in gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit) at chromosome 17, position 80086173—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Primary_ciliary_dyskinesia'] | TACGATTTAAGAAGTGTGTTAGTCTGATCTCACACTGCTGTAGGAAATACCTAAGACTGGATAACTGATAAAGGAAAGAGGTTTAATTGACTGACAGTTCTGCATGGCTGGGGAGGCCTCAGGAAACTTACAATCATGGCAAAAGGCGAAACAGGCACCTCCTTCACAAGGCAGCAGGAGAGAGAGTGTGTGTGAAGCAGGAACCGTCAAACACACAAAACCATCAGATCTCATGAGAACTCACTATCATGAGAACAGCATGGGGGTAGCGGCCCCCATGGTCCAGTCACCTCCCACAGGGGCCCTCCCTTGACATGTGG... | TACGATTTAAGAAGTGTGTTAGTCTGATCTCACACTGCTGTAGGAAATACCTAAGACTGGATAACTGATAAAGGAAAGAGGTTTAATTGACTGACAGTTCTGCATGGCTGGGGAGGCCTCAGGAAACTTACAATCATGGCAAAAGGCGAAACAGGCACCTCCTTCACAAGGCAGCAGGAGAGAGAGTGTGTGTGAAGCAGGAACCGTCAAACACACAAAACCATCAGATCTCATGAGAACTCACTATCATGAGAACAGCATGGGGGTAGCGGCCCCCATGGTCCAGTCACCTCCCACAGGGGCCCTCCCTTGACATGTGG... | pathogenic | 284,997 |
Regarding the variant at chromosome 17 and position 80088049, affecting gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Primary_ciliary_dyskinesia'] | AGGGGGAAGAAGTGGGGCCCCTGGAGCTTGAAATCAAAAGGCTGAGCAAGCTGATCGACGAGCACGATGGCAAGGCGGTCCAGGCCCAGGTGACCTGGCTGCGCCTGCAGCAGGAGATGGTCAAGGTGACACAGGAGCAGGAGGAGCAGCTGGCCTCCCTGGACGCATCCAAGAAGGAGCTCCACATCATGGAGCAGAAGAAACTACGAGTAGAAAGTAAGAGCCGCCGTGCCCGGCCCTGCAGTGATGCTGAGACGAGCTCTGGGACGTGGGCACCTCCCAGGGGAGGGGCACTCAGTGGGGCACGTCGCTGGATTTGC... | AGGGGGAAGAAGTGGGGCCCCTGGAGCTTGAAATCAAAAGGCTGAGCAAGCTGATCGACGAGCACGATGGCAAGGCGGTCCAGGCCCAGGTGACCTGGCTGCGCCTGCAGCAGGAGATGGTCAAGGTGACACAGGAGCAGGAGGAGCAGCTGGCCTCCCTGGACGCATCCAAGAAGGAGCTCCACATCATGGAGCAGAAGAAACTACGAGTAGAAAGTAAGAGCCGCCGTGCCCGGCCCTGCAGTGATGCTGAGACGAGCTCTGGGACGTGGGCACCTCCCAGGGGAGGGGCACTCAGTGGGGCACGTCGCTGGATTTGC... | pathogenic | 285,010 |
Gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit) variant at chromosome 17, position 80089802—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_15'] | ATGAGTTCGTGCGCTCGCTGAAGGTCCGGCCGTGTCCACGCAGTCCCGGGGCTCAGGACGATGGAGGGCGGGGGTACGGTCCTTGCGGTGGGCGTTCTGCACCAGGATGTAATTTCCACACCCGTTCAAGATGCTTGTAGGGGTATTAGAAATCCAGCCTGCAGCCCTGCCCTCGGTGCCGGGATAGAGGGCACCAGCCCCGGCATCCACAATCCCATGGCCCTCCCCACAGCTGTCCCGCCCCCTCCCCCATGCAGGCCTCTGAGAGGGAGACCATCAAGATGCAGGACAAGCTGAACCAGCTCAGCGAGGAGAAGGCG... | ATGAGTTCGTGCGCTCGCTGAAGGTCCGGCCGTGTCCACGCAGTCCCGGGGCTCAGGACGATGGAGGGCGGGGGTACGGTCCTTGCGGTGGGCGTTCTGCACCAGGATGTAATTTCCACACCCGTTCAAGATGCTTGTAGGGGTATTAGAAATCCAGCCTGCAGCCCTGCCCTCGGTGCCGGGATAGAGGGCACCAGCCCCGGCATCCACAATCCCATGGCCCTCCCCACAGCTGTCCCGCCCCCTCCCCCATGCAGGCCTCTGAGAGGGAGACCATCAAGATGCAGGACAAGCTGAACCAGCTCAGCGAGGAGAAGGCG... | pathogenic | 285,016 |
Benign or pathogenic: chromosome 17, position 80089876, gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit) variant? Disease(s) if pathogenic? | pathogenic; ['Kartagener_syndrome', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_15'] | TACGGTCCTTGCGGTGGGCGTTCTGCACCAGGATGTAATTTCCACACCCGTTCAAGATGCTTGTAGGGGTATTAGAAATCCAGCCTGCAGCCCTGCCCTCGGTGCCGGGATAGAGGGCACCAGCCCCGGCATCCACAATCCCATGGCCCTCCCCACAGCTGTCCCGCCCCCTCCCCCATGCAGGCCTCTGAGAGGGAGACCATCAAGATGCAGGACAAGCTGAACCAGCTCAGCGAGGAGAAGGCGACCCTCCTGAATCAACTGGTGGAAGCAGAGTGAGTCCCAGTCTCCAGCCACACGTGGGTCATGAAGGTCACTGC... | TACGGTCCTTGCGGTGGGCGTTCTGCACCAGGATGTAATTTCCACACCCGTTCAAGATGCTTGTAGGGGTATTAGAAATCCAGCCTGCAGCCCTGCCCTCGGTGCCGGGATAGAGGGCACCAGCCCCGGCATCCACAATCCCATGGCCCTCCCCACAGCTGTCCCGCCCCCTCCCCCATGCAGGCCTCTGAGAGGGAGACCATCAAGATGCAGGACAAGCTGAACCAGCTCAGCGAGGAGAAGGCGACCCTCCTGAATCAACTGGTGGAAGCAGAGTGAGTCCCAGTCTCCAGCCACACGTGGGTCATGAAGGTCACTGC... | pathogenic | 285,019 |
Clinical significance of chromosome 17, position 80090346, gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTGGAGTGCAGCCGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTTTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTCACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGCGCTGGGATTACATTCATGAGCCACCGTGCCCAGCAATCCCAGTGCTTTGGGATGCCAAGGCAGGAGGCTCCTTTGGGGCCAGGAGTTCAAGACAAGACGGG... | CTGGAGTGCAGCCGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTTTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTCACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGCGCTGGGATTACATTCATGAGCCACCGTGCCCAGCAATCCCAGTGCTTTGGGATGCCAAGGCAGGAGGCTCCTTTGGGGCCAGGAGTTCAAGACAAGACGGG... | benign | 285,030 |
Gene mutation in CCDC40 (coiled-coil domain 40 molecular ruler complex subunit) at chromosome 17, position 80095281—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Primary_ciliary_dyskinesia'] | CAGTGGCACTCACATCTCAGCTCGCTGCAACTTCCACCTCCTGGGTTCGAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGATCTCAGATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAGCTGATTTTAATATTAGGCTGTTTTCTTATTTCTCTTTTTTTTTTTTTTGAAACAGTCTCGCTCTGTTG... | CAGTGGCACTCACATCTCAGCTCGCTGCAACTTCCACCTCCTGGGTTCGAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGATCTCAGATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAGCTGATTTTAATATTAGGCTGTTTTCTTATTTCTCTTTTTTTTTTTTTTGAAACAGTCTCGCTCTGTTG... | pathogenic | 285,031 |
Located at chromosome 17 position 80095430, the variant affecting gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_15'] | CATGTTGGCCAGGCTGGCCTTGAACTCCTGATCTCAGATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAGCTGATTTTAATATTAGGCTGTTTTCTTATTTCTCTTTTTTTTTTTTTTGAAACAGTCTCGCTCTGTTGCCCAGGCTAGAGAGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGTGCACCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGA... | CATGTTGGCCAGGCTGGCCTTGAACTCCTGATCTCAGATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAGCTGATTTTAATATTAGGCTGTTTTCTTATTTCTCTTTTTTTTTTTTTTGAAACAGTCTCGCTCTGTTGCCCAGGCTAGAGAGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGTGCACCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGA... | pathogenic | 285,035 |
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