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 |
|---|---|---|---|---|---|
Gene DMXL2 (Dmx like 2) variant at chromosome position 51514464 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | AGGAATTTTATTATCAATTTGATAACAGCAAATATGTAAGGAAGTTATTTTTAGAAACGCATATGGAAGTGAAACAACACTGTAGGTGGATTTGCTTTAAAATATTTCAGGGGGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTCAAGGTGAGCTGATCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCAATGGGGTAAAACTCTGACTCTAGTAATAATACAAAAAAATTAGCCAGGTGGGCTTACAGCCGAGTAGCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTG... | AGGAATTTTATTATCAATTTGATAACAGCAAATATGTAAGGAAGTTATTTTTAGAAACGCATATGGAAGTGAAACAACACTGTAGGTGGATTTGCTTTAAAATATTTCAGGGGGGCCAGGCGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTCAAGGTGAGCTGATCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCAATGGGGTAAAACTCTGACTCTAGTAATAATACAAAAAAATTAGCCAGGTGGGCTTACAGCCGAGTAGCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTG... | pathogenic | 233,886 |
Variant in gene DMXL2 (Dmx like 2), located at chromosome 15 position 51576183: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | ACTGCACCTGGGGGAAAGAGCTGATGAAGACATCTCCAGAGGACTGAAGCAAGAAATTTAGGGACCAGGAGGATTTTGTTCCAGGTCACATACCTGGTAAGAAAAGACATAAATCCCTCTGTTCCCAGAAACTACCACAGCCTGTTTTCCAATAATTTCTTGAAGGCTATTTCTAAGTTCACTCTCCTCTTGGTAAGATGGAATTAACTACAGGGAATAGACCAAAAACCGTCCTTTCTGACACCTCTGCACCCTGGTTAACCTTTAAAACTCAATTAGGTATATATTCTTTTAAGGCCTGCCAAAAATATCCCCTGTGA... | ACTGCACCTGGGGGAAAGAGCTGATGAAGACATCTCCAGAGGACTGAAGCAAGAAATTTAGGGACCAGGAGGATTTTGTTCCAGGTCACATACCTGGTAAGAAAAGACATAAATCCCTCTGTTCCCAGAAACTACCACAGCCTGTTTTCCAATAATTTCTTGAAGGCTATTTCTAAGTTCACTCTCCTCTTGGTAAGATGGAATTAACTACAGGGAATAGACCAAAAACCGTCCTTTCTGACACCTCTGCACCCTGGTTAACCTTTAAAACTCAATTAGGTATATATTCTTTTAAGGCCTGCCAAAAATATCCCCTGTGA... | benign | 233,909 |
Mutation found at chromosome 15 position 51576183, gene DMXL2 (Dmx like 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | ACTGCACCTGGGGGAAAGAGCTGATGAAGACATCTCCAGAGGACTGAAGCAAGAAATTTAGGGACCAGGAGGATTTTGTTCCAGGTCACATACCTGGTAAGAAAAGACATAAATCCCTCTGTTCCCAGAAACTACCACAGCCTGTTTTCCAATAATTTCTTGAAGGCTATTTCTAAGTTCACTCTCCTCTTGGTAAGATGGAATTAACTACAGGGAATAGACCAAAAACCGTCCTTTCTGACACCTCTGCACCCTGGTTAACCTTTAAAACTCAATTAGGTATATATTCTTTTAAGGCCTGCCAAAAATATCCCCTGTGA... | ACTGCACCTGGGGGAAAGAGCTGATGAAGACATCTCCAGAGGACTGAAGCAAGAAATTTAGGGACCAGGAGGATTTTGTTCCAGGTCACATACCTGGTAAGAAAAGACATAAATCCCTCTGTTCCCAGAAACTACCACAGCCTGTTTTCCAATAATTTCTTGAAGGCTATTTCTAAGTTCACTCTCCTCTTGGTAAGATGGAATTAACTACAGGGAATAGACCAAAAACCGTCCTTTCTGACACCTCTGCACCCTGGTTAACCTTTAAAACTCAATTAGGTATATATTCTTTTAAGGCCTGCCAAAAATATCCCCTGTGA... | benign | 233,911 |
For chromosome 15, position 51576183, gene DMXL2 (Dmx like 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | ACTGCACCTGGGGGAAAGAGCTGATGAAGACATCTCCAGAGGACTGAAGCAAGAAATTTAGGGACCAGGAGGATTTTGTTCCAGGTCACATACCTGGTAAGAAAAGACATAAATCCCTCTGTTCCCAGAAACTACCACAGCCTGTTTTCCAATAATTTCTTGAAGGCTATTTCTAAGTTCACTCTCCTCTTGGTAAGATGGAATTAACTACAGGGAATAGACCAAAAACCGTCCTTTCTGACACCTCTGCACCCTGGTTAACCTTTAAAACTCAATTAGGTATATATTCTTTTAAGGCCTGCCAAAAATATCCCCTGTGA... | ACTGCACCTGGGGGAAAGAGCTGATGAAGACATCTCCAGAGGACTGAAGCAAGAAATTTAGGGACCAGGAGGATTTTGTTCCAGGTCACATACCTGGTAAGAAAAGACATAAATCCCTCTGTTCCCAGAAACTACCACAGCCTGTTTTCCAATAATTTCTTGAAGGCTATTTCTAAGTTCACTCTCCTCTTGGTAAGATGGAATTAACTACAGGGAATAGACCAAAAACCGTCCTTTCTGACACCTCTGCACCCTGGTTAACCTTTAAAACTCAATTAGGTATATATTCTTTTAAGGCCTGCCAAAAATATCCCCTGTGA... | benign | 233,912 |
Variant in DMXL2 (Dmx like 2), chromosome 15, position 51576183—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ACTGCACCTGGGGGAAAGAGCTGATGAAGACATCTCCAGAGGACTGAAGCAAGAAATTTAGGGACCAGGAGGATTTTGTTCCAGGTCACATACCTGGTAAGAAAAGACATAAATCCCTCTGTTCCCAGAAACTACCACAGCCTGTTTTCCAATAATTTCTTGAAGGCTATTTCTAAGTTCACTCTCCTCTTGGTAAGATGGAATTAACTACAGGGAATAGACCAAAAACCGTCCTTTCTGACACCTCTGCACCCTGGTTAACCTTTAAAACTCAATTAGGTATATATTCTTTTAAGGCCTGCCAAAAATATCCCCTGTGA... | ACTGCACCTGGGGGAAAGAGCTGATGAAGACATCTCCAGAGGACTGAAGCAAGAAATTTAGGGACCAGGAGGATTTTGTTCCAGGTCACATACCTGGTAAGAAAAGACATAAATCCCTCTGTTCCCAGAAACTACCACAGCCTGTTTTCCAATAATTTCTTGAAGGCTATTTCTAAGTTCACTCTCCTCTTGGTAAGATGGAATTAACTACAGGGAATAGACCAAAAACCGTCCTTTCTGACACCTCTGCACCCTGGTTAACCTTTAAAACTCAATTAGGTATATATTCTTTTAAGGCCTGCCAAAAATATCCCCTGTGA... | benign | 233,913 |
Gene DMXL2 (Dmx like 2) variant at chromosome position 51576183 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ACTGCACCTGGGGGAAAGAGCTGATGAAGACATCTCCAGAGGACTGAAGCAAGAAATTTAGGGACCAGGAGGATTTTGTTCCAGGTCACATACCTGGTAAGAAAAGACATAAATCCCTCTGTTCCCAGAAACTACCACAGCCTGTTTTCCAATAATTTCTTGAAGGCTATTTCTAAGTTCACTCTCCTCTTGGTAAGATGGAATTAACTACAGGGAATAGACCAAAAACCGTCCTTTCTGACACCTCTGCACCCTGGTTAACCTTTAAAACTCAATTAGGTATATATTCTTTTAAGGCCTGCCAAAAATATCCCCTGTGA... | ACTGCACCTGGGGGAAAGAGCTGATGAAGACATCTCCAGAGGACTGAAGCAAGAAATTTAGGGACCAGGAGGATTTTGTTCCAGGTCACATACCTGGTAAGAAAAGACATAAATCCCTCTGTTCCCAGAAACTACCACAGCCTGTTTTCCAATAATTTCTTGAAGGCTATTTCTAAGTTCACTCTCCTCTTGGTAAGATGGAATTAACTACAGGGAATAGACCAAAAACCGTCCTTTCTGACACCTCTGCACCCTGGTTAACCTTTAAAACTCAATTAGGTATATATTCTTTTAAGGCCTGCCAAAAATATCCCCTGTGA... | benign | 233,914 |
The mutation in gene GNB5 (G protein subunit beta 5) at chromosome 15, position 52154052—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['GNB5-related_disorder', 'GNB5-reled_disorder', 'Gnb5-related_intellectual_disability-cardiac_arrhythmia_syndrome'] | ATGGTGGGAGTAAAAGGTTTTTATTTGTTTGTTTCTTTAATGTGGTAGAATACATAAGTGATAAATTTATTTTGATCTTAAAAAAAAAGCAAGTGCAATGTGACATACTAGATTTGTAGGTAATCTAGGAGAGTAATAACATTTGTCCTATCAAACGCAAAACTGACACAGACGTTACAGTTTGTGGATTATCTAGAGTATATCCAGTTTCACAAGGGTTATAAAAAAAAGCAAACCAACCTGCTTTTGGAAAAACTGAGCACAAGGCAGGGGTTGGGAGAAACCTATGCTGATCATAAAAATAGGATTTATATAATATC... | ATGGTGGGAGTAAAAGGTTTTTATTTGTTTGTTTCTTTAATGTGGTAGAATACATAAGTGATAAATTTATTTTGATCTTAAAAAAAAAGCAAGTGCAATGTGACATACTAGATTTGTAGGTAATCTAGGAGAGTAATAACATTTGTCCTATCAAACGCAAAACTGACACAGACGTTACAGTTTGTGGATTATCTAGAGTATATCCAGTTTCACAAGGGTTATAAAAAAAAGCAAACCAACCTGCTTTTGGAAAAACTGAGCACAAGGCAGGGGTTGGGAGAAACCTATGCTGATCATAAAAATAGGATTTATATAATATC... | pathogenic | 233,948 |
Clinical classification of chromosome 15, position 52348793, gene MYO5A (myosin VA): benign or pathogenic? Disease(s) if pathogenic? | benign | CATATATGTGTTTTACATTATGTGAAAAAAAATATATATATATTTTATAAAGTATATAATATAGTATATACAGCATTAGAAAAATAACCAGGCACCTATTTAATGGAATGTACAAAGCCATTCTTTCTACTACTTCATGACTAGTTACAATGAGCAGATGCCCCAAAACACTGAAAGTCTGACATAAAGTTCACTTTTTCATTAAAAACTCAGAAAAAGAAGGTAGTATTCAGATTATATGCTTCAGCAAAATTAAGTTTTTTTTCTCACATTCAGTTCTCTTTTCCTCTAGTATAACATAACATAGTACTTAAGCTTTT... | CATATATGTGTTTTACATTATGTGAAAAAAAATATATATATATTTTATAAAGTATATAATATAGTATATACAGCATTAGAAAAATAACCAGGCACCTATTTAATGGAATGTACAAAGCCATTCTTTCTACTACTTCATGACTAGTTACAATGAGCAGATGCCCCAAAACACTGAAAGTCTGACATAAAGTTCACTTTTTCATTAAAAACTCAGAAAAAGAAGGTAGTATTCAGATTATATGCTTCAGCAAAATTAAGTTTTTTTTCTCACATTCAGTTCTCTTTTCCTCTAGTATAACATAACATAGTACTTAAGCTTTT... | benign | 233,975 |
A genetic alteration at chromosome 15, position 52364535, in gene MYO5A (myosin VA)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TCTGCAAAAACTGTCATCTTGATTATATCTGGAGCTAGGAAAAGGAGATCTAGTGAAGAAATGAGTGGGAAGCAAGTGAGCTCTGATCTCCCTTCCTCTGCTTTCTCCTTTTCCCTTCCTCTGACCATTTTGTCTCCCAAGAGGAATGACTGAGTCACAGGCATACAATGGAGAGGACACATGACTGAGAAATAAGAAATTGAGCAACTAAAACTACCTCTAGAGCACTGCTGGGAACAGATGGAGAGCAGGCAGACTTGCTTAGCAGGAAGGAGGAGCCGTGTCAAGCTGCTGGAGGAGGCGTCACTGGAGGACCTTTC... | TCTGCAAAAACTGTCATCTTGATTATATCTGGAGCTAGGAAAAGGAGATCTAGTGAAGAAATGAGTGGGAAGCAAGTGAGCTCTGATCTCCCTTCCTCTGCTTTCTCCTTTTCCCTTCCTCTGACCATTTTGTCTCCCAAGAGGAATGACTGAGTCACAGGCATACAATGGAGAGGACACATGACTGAGAAATAAGAAATTGAGCAACTAAAACTACCTCTAGAGCACTGCTGGGAACAGATGGAGAGCAGGCAGACTTGCTTAGCAGGAAGGAGGAGCCGTGTCAAGCTGCTGGAGGAGGCGTCACTGGAGGACCTTTC... | benign | 233,984 |
Does the variant on chromosome 15 at location 52364541 affecting gene MYO5A (myosin VA) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AAAACTGTCATCTTGATTATATCTGGAGCTAGGAAAAGGAGATCTAGTGAAGAAATGAGTGGGAAGCAAGTGAGCTCTGATCTCCCTTCCTCTGCTTTCTCCTTTTCCCTTCCTCTGACCATTTTGTCTCCCAAGAGGAATGACTGAGTCACAGGCATACAATGGAGAGGACACATGACTGAGAAATAAGAAATTGAGCAACTAAAACTACCTCTAGAGCACTGCTGGGAACAGATGGAGAGCAGGCAGACTTGCTTAGCAGGAAGGAGGAGCCGTGTCAAGCTGCTGGAGGAGGCGTCACTGGAGGACCTTTCTAGAAA... | AAAACTGTCATCTTGATTATATCTGGAGCTAGGAAAAGGAGATCTAGTGAAGAAATGAGTGGGAAGCAAGTGAGCTCTGATCTCCCTTCCTCTGCTTTCTCCTTTTCCCTTCCTCTGACCATTTTGTCTCCCAAGAGGAATGACTGAGTCACAGGCATACAATGGAGAGGACACATGACTGAGAAATAAGAAATTGAGCAACTAAAACTACCTCTAGAGCACTGCTGGGAACAGATGGAGAGCAGGCAGACTTGCTTAGCAGGAAGGAGGAGCCGTGTCAAGCTGCTGGAGGAGGCGTCACTGGAGGACCTTTCTAGAAA... | benign | 233,985 |
Variant in MYO5A (myosin VA), chromosome 15, position 52389375—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GAACTGCACTCAGTGATGATCCAGAGATCAGTCTCCATCTGGATGGAGTGCGTAAGGCCACGTTTCTAGTACCTCCCTTCAAACTGACAGGGCAGAAAGACTGTTTTCTCTCATGGCCTCTCACCAAGGCACAATAGAGTCTAGAACCACTGTGGAGGCAATAATTTCACACAAAACTGAAAGAAACATTGCACAGGAGTTAAAAGCACAGACACAGCAAGACGGCCTGGATTTTAATTTGGCTTGAAAACTCGGTAGCCATGAAGTCTCTGTGTCTCAGGTGCCTCATCCATAAAATAAGAGTCATTAGATGAGTTAGC... | GAACTGCACTCAGTGATGATCCAGAGATCAGTCTCCATCTGGATGGAGTGCGTAAGGCCACGTTTCTAGTACCTCCCTTCAAACTGACAGGGCAGAAAGACTGTTTTCTCTCATGGCCTCTCACCAAGGCACAATAGAGTCTAGAACCACTGTGGAGGCAATAATTTCACACAAAACTGAAAGAAACATTGCACAGGAGTTAAAAGCACAGACACAGCAAGACGGCCTGGATTTTAATTTGGCTTGAAAACTCGGTAGCCATGAAGTCTCTGTGTCTCAGGTGCCTCATCCATAAAATAAGAGTCATTAGATGAGTTAGC... | benign | 234,003 |
Considering the variant on chromosome 15, location 52389446, involving gene MYO5A (myosin VA), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CCTCCCTTCAAACTGACAGGGCAGAAAGACTGTTTTCTCTCATGGCCTCTCACCAAGGCACAATAGAGTCTAGAACCACTGTGGAGGCAATAATTTCACACAAAACTGAAAGAAACATTGCACAGGAGTTAAAAGCACAGACACAGCAAGACGGCCTGGATTTTAATTTGGCTTGAAAACTCGGTAGCCATGAAGTCTCTGTGTCTCAGGTGCCTCATCCATAAAATAAGAGTCATTAGATGAGTTAGCATTTTCAATACATTTAGAACAGGACCTGACATGCAGCTAAATTACTTTGACTAACATACTAAGTGTTATAT... | CCTCCCTTCAAACTGACAGGGCAGAAAGACTGTTTTCTCTCATGGCCTCTCACCAAGGCACAATAGAGTCTAGAACCACTGTGGAGGCAATAATTTCACACAAAACTGAAAGAAACATTGCACAGGAGTTAAAAGCACAGACACAGCAAGACGGCCTGGATTTTAATTTGGCTTGAAAACTCGGTAGCCATGAAGTCTCTGTGTCTCAGGTGCCTCATCCATAAAATAAGAGTCATTAGATGAGTTAGCATTTTCAATACATTTAGAACAGGACCTGACATGCAGCTAAATTACTTTGACTAACATACTAAGTGTTATAT... | benign | 234,006 |
Mutation found at chromosome 15 position 55205654, gene RAB27A (RAB27A, member RAS oncogene family): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Griscelli_syndrome_type_2', 'RAB27A-related_disorder'] | TAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCAACCCTGCTCTTGAAATGTCTAAATCTTTTCCTCACTAGCATATACAATTCAAATGCACAGGCCTCCATGACTTCTTTGGAATTTAAAAGAAGCCTTCATTTCAAGGATAGAAATATGTAAAATTTTACCAACCATGGATAAGTTTGTTATGGGAGTAGTGGAAGGACAGTGGAAAAAAAAATAGGTTTTTTCATGATACTTTT... | TAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCAACCCTGCTCTTGAAATGTCTAAATCTTTTCCTCACTAGCATATACAATTCAAATGCACAGGCCTCCATGACTTCTTTGGAATTTAAAAGAAGCCTTCATTTCAAGGATAGAAATATGTAAAATTTTACCAACCATGGATAAGTTTGTTATGGGAGTAGTGGAAGGACAGTGGAAAAAAAAATAGGTTTTTTCATGATACTTTT... | pathogenic | 234,082 |
Is the genetic variant on chromosome 15, position 55223954, gene RAB27A (RAB27A, member RAS oncogene family), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autoinflammatory_syndrome', 'Griscelli_syndrome_type_2'] | CTCATTATGGGCACCAGCTGGTTCTCACTTTTTCCATCCATCCCCCATTTCACATCCTTCTCCCCTTCCTGTCTGACTGTCCTGTCCTTCAGGCTTCAGCATCAGACACAAAGACAACACCTTACAGAGACTACTTACCCAGCTCCCACAATTGCATATGCTCAAATTCCTGTAACAGATCCCTTCATGTATAGGTATGCTTCTTCAAGTGAACCCTGCCTGAGAAACTCCTCCAAACCAATTATGTCTGATGGTCAGAGGTGAAGCCCAGACATGAGAATGTGTTAAAAGTTCTCTGGATGTTTCTAACATGGTTAAAC... | CTCATTATGGGCACCAGCTGGTTCTCACTTTTTCCATCCATCCCCCATTTCACATCCTTCTCCCCTTCCTGTCTGACTGTCCTGTCCTTCAGGCTTCAGCATCAGACACAAAGACAACACCTTACAGAGACTACTTACCCAGCTCCCACAATTGCATATGCTCAAATTCCTGTAACAGATCCCTTCATGTATAGGTATGCTTCTTCAAGTGAACCCTGCCTGAGAAACTCCTCCAAACCAATTATGTCTGATGGTCAGAGGTGAAGCCCAGACATGAGAATGTGTTAAAAGTTCTCTGGATGTTTCTAACATGGTTAAAC... | pathogenic | 234,086 |
Clinical significance of chromosome 15, position 55223978, gene RAB27A (RAB27A, member RAS oncogene family): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Griscelli_syndrome_type_2', 'Inborn_genetic_diseases'] | TCACTTTTTCCATCCATCCCCCATTTCACATCCTTCTCCCCTTCCTGTCTGACTGTCCTGTCCTTCAGGCTTCAGCATCAGACACAAAGACAACACCTTACAGAGACTACTTACCCAGCTCCCACAATTGCATATGCTCAAATTCCTGTAACAGATCCCTTCATGTATAGGTATGCTTCTTCAAGTGAACCCTGCCTGAGAAACTCCTCCAAACCAATTATGTCTGATGGTCAGAGGTGAAGCCCAGACATGAGAATGTGTTAAAAGTTCTCTGGATGTTTCTAACATGGTTAAACACCATCTGCCCTAGGGTAAAAACC... | TCACTTTTTCCATCCATCCCCCATTTCACATCCTTCTCCCCTTCCTGTCTGACTGTCCTGTCCTTCAGGCTTCAGCATCAGACACAAAGACAACACCTTACAGAGACTACTTACCCAGCTCCCACAATTGCATATGCTCAAATTCCTGTAACAGATCCCTTCATGTATAGGTATGCTTCTTCAAGTGAACCCTGCCTGAGAAACTCCTCCAAACCAATTATGTCTGATGGTCAGAGGTGAAGCCCAGACATGAGAATGTGTTAAAAGTTCTCTGGATGTTTCTAACATGGTTAAACACCATCTGCCCTAGGGTAAAAACC... | pathogenic | 234,087 |
Classify the chromosome 15 variant at position 55234785 affecting gene RAB27A (RAB27A, member RAS oncogene family) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Griscelli_syndrome', 'Griscelli_syndrome_type_2'] | TAAGCACCAGTAAAAATGTAACTGCATAGTAAATATAAAAAACAGTATAAACGTGGTTTTTCTTTGTAGCCCTTTTCCTCCACTAGATTAAAATTTAACTGCAGGCTGGGAGTGATAGCTCATGCCTGTAATCCCTCAGCACTTTGGGAGGCTAAGATGGGTGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATTACTACTAAAAATATAAACAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAATCCTAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCTGGGAGAC... | TAAGCACCAGTAAAAATGTAACTGCATAGTAAATATAAAAAACAGTATAAACGTGGTTTTTCTTTGTAGCCCTTTTCCTCCACTAGATTAAAATTTAACTGCAGGCTGGGAGTGATAGCTCATGCCTGTAATCCCTCAGCACTTTGGGAGGCTAAGATGGGTGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATTACTACTAAAAATATAAACAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAATCCTAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCTGGGAGAC... | pathogenic | 234,097 |
Variant in RAB27A (RAB27A, member RAS oncogene family), chromosome 15, position 55234915—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Griscelli_syndrome_type_2'] | ATCCCTCAGCACTTTGGGAGGCTAAGATGGGTGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATTACTACTAAAAATATAAACAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAATCCTAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCTGGGAGACAGAGGTTGCGGTGAGCTGAGATCTCACCACTGCACTCCAGTCTGAGCAACAGAGAGAGACCCTGTCTCAAAAAGAAAAAAGAAAAAAAAATTAACTGCATACAGCAATAATTGTAAAGCTGTATTGATGA... | ATCCCTCAGCACTTTGGGAGGCTAAGATGGGTGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATTACTACTAAAAATATAAACAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAATCCTAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCTGGGAGACAGAGGTTGCGGTGAGCTGAGATCTCACCACTGCACTCCAGTCTGAGCAACAGAGAGAGACCCTGTCTCAAAAAGAAAAAAGAAAAAAAAATTAACTGCATACAGCAATAATTGTAAAGCTGTATTGATGA... | pathogenic | 234,098 |
Is the genetic mutation found on chromosome 15 at position 55466973, within the gene DNAAF4, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Primary_ciliary_dyskinesia_25'] | AGCCTGGGCAACAAGAGCGAAATTCCATCTCAAAATAAATAAACAAACAAACAAATGTCCAACAAACATGAAAAAATGCTCAACACCGCTAATTATTAGGGAAATGCAAATCAAAACCACAATGCGATACCACCTTACTCCTGTTAAGAATGACCATAATTTAAAAATGAAAAAATAACAGATGTTGGTGTAGATGTGGTGAAAAGGGACACTTTTACACTGCTGGTGGGAATGTAAACTAGTACAACTACTATGGAAGACAGTGTGGAGATAGATGCCTTAAAGAACGAAAAGTAGAACCGCCATTTGATCCAGCAATC... | AGCCTGGGCAACAAGAGCGAAATTCCATCTCAAAATAAATAAACAAACAAACAAATGTCCAACAAACATGAAAAAATGCTCAACACCGCTAATTATTAGGGAAATGCAAATCAAAACCACAATGCGATACCACCTTACTCCTGTTAAGAATGACCATAATTTAAAAATGAAAAAATAACAGATGTTGGTGTAGATGTGGTGAAAAGGGACACTTTTACACTGCTGGTGGGAATGTAAACTAGTACAACTACTATGGAAGACAGTGTGGAGATAGATGCCTTAAAGAACGAAAAGTAGAACCGCCATTTGATCCAGCAATC... | pathogenic | 234,141 |
Variant in gene DNAAF4, located at chromosome 15 position 55466983: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Dyslexia,_susceptibility_to,_1', 'Primary_ciliary_dyskinesia_25'] | ACAAGAGCGAAATTCCATCTCAAAATAAATAAACAAACAAACAAATGTCCAACAAACATGAAAAAATGCTCAACACCGCTAATTATTAGGGAAATGCAAATCAAAACCACAATGCGATACCACCTTACTCCTGTTAAGAATGACCATAATTTAAAAATGAAAAAATAACAGATGTTGGTGTAGATGTGGTGAAAAGGGACACTTTTACACTGCTGGTGGGAATGTAAACTAGTACAACTACTATGGAAGACAGTGTGGAGATAGATGCCTTAAAGAACGAAAAGTAGAACCGCCATTTGATCCAGCAATCCCCCTACTGG... | ACAAGAGCGAAATTCCATCTCAAAATAAATAAACAAACAAACAAATGTCCAACAAACATGAAAAAATGCTCAACACCGCTAATTATTAGGGAAATGCAAATCAAAACCACAATGCGATACCACCTTACTCCTGTTAAGAATGACCATAATTTAAAAATGAAAAAATAACAGATGTTGGTGTAGATGTGGTGAAAAGGGACACTTTTACACTGCTGGTGGGAATGTAAACTAGTACAACTACTATGGAAGACAGTGTGGAGATAGATGCCTTAAAGAACGAAAAGTAGAACCGCCATTTGATCCAGCAATCCCCCTACTGG... | pathogenic | 234,142 |
Evaluate the clinical significance of the mutation at chromosome 15, position 55467043 in gene DNAAF4: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['DNAAF4-related_disorder', 'Primary_ciliary_dyskinesia_25'] | AAAAAATGCTCAACACCGCTAATTATTAGGGAAATGCAAATCAAAACCACAATGCGATACCACCTTACTCCTGTTAAGAATGACCATAATTTAAAAATGAAAAAATAACAGATGTTGGTGTAGATGTGGTGAAAAGGGACACTTTTACACTGCTGGTGGGAATGTAAACTAGTACAACTACTATGGAAGACAGTGTGGAGATAGATGCCTTAAAGAACGAAAAGTAGAACCGCCATTTGATCCAGCAATCCCCCTACTGGGTATCTATCTAGAGAAAAAGAAGTCATTAGACACTTGCACACTCATGTTTATAGCAGCAC... | AAAAAATGCTCAACACCGCTAATTATTAGGGAAATGCAAATCAAAACCACAATGCGATACCACCTTACTCCTGTTAAGAATGACCATAATTTAAAAATGAAAAAATAACAGATGTTGGTGTAGATGTGGTGAAAAGGGACACTTTTACACTGCTGGTGGGAATGTAAACTAGTACAACTACTATGGAAGACAGTGTGGAGATAGATGCCTTAAAGAACGAAAAGTAGAACCGCCATTTGATCCAGCAATCCCCCTACTGGGTATCTATCTAGAGAAAAAGAAGTCATTAGACACTTGCACACTCATGTTTATAGCAGCAC... | pathogenic | 234,144 |
Is the genetic change at chromosome 15, position 55467043, within gene DNAAF4 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Dyslexia,_susceptibility_to,_1', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_25'] | AAAAAATGCTCAACACCGCTAATTATTAGGGAAATGCAAATCAAAACCACAATGCGATACCACCTTACTCCTGTTAAGAATGACCATAATTTAAAAATGAAAAAATAACAGATGTTGGTGTAGATGTGGTGAAAAGGGACACTTTTACACTGCTGGTGGGAATGTAAACTAGTACAACTACTATGGAAGACAGTGTGGAGATAGATGCCTTAAAGAACGAAAAGTAGAACCGCCATTTGATCCAGCAATCCCCCTACTGGGTATCTATCTAGAGAAAAAGAAGTCATTAGACACTTGCACACTCATGTTTATAGCAGCAC... | AAAAAATGCTCAACACCGCTAATTATTAGGGAAATGCAAATCAAAACCACAATGCGATACCACCTTACTCCTGTTAAGAATGACCATAATTTAAAAATGAAAAAATAACAGATGTTGGTGTAGATGTGGTGAAAAGGGACACTTTTACACTGCTGGTGGGAATGTAAACTAGTACAACTACTATGGAAGACAGTGTGGAGATAGATGCCTTAAAGAACGAAAAGTAGAACCGCCATTTGATCCAGCAATCCCCCTACTGGGTATCTATCTAGAGAAAAAGAAGTCATTAGACACTTGCACACTCATGTTTATAGCAGCAC... | pathogenic | 234,145 |
Does the variant impacting DNAAF4 on chromosome 15, position 55491134, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Primary_ciliary_dyskinesia_25'] | CTCAAAAAAAAAAAACAAAAAACAAACCTTCAAGGTACAACATAGTGGTGCTTCCTGCTGGTCAACTGTTCTGTTTTGACATACCAATACAGCAGTAAGTGTGCCATTATTTAACTGTTTTATTATTTCAGTGAATATCTATTGCCACAAATTCTATATTAATTTTTTTAAATTCATGAAAATGATAAAATCAAAAGGCCAACAGCTGTGATCATACAATAAAGAAAAGATGGAATTAAGTATGCTAAAGGCAGGAATCTTTGACCAGCTGACCAGTTCAATTATTAAGTAAAAGACAAAGTATATGGCTCAGTGCGGTG... | CTCAAAAAAAAAAAACAAAAAACAAACCTTCAAGGTACAACATAGTGGTGCTTCCTGCTGGTCAACTGTTCTGTTTTGACATACCAATACAGCAGTAAGTGTGCCATTATTTAACTGTTTTATTATTTCAGTGAATATCTATTGCCACAAATTCTATATTAATTTTTTTAAATTCATGAAAATGATAAAATCAAAAGGCCAACAGCTGTGATCATACAATAAAGAAAAGATGGAATTAAGTATGCTAAAGGCAGGAATCTTTGACCAGCTGACCAGTTCAATTATTAAGTAAAAGACAAAGTATATGGCTCAGTGCGGTG... | pathogenic | 234,149 |
Is the genetic variant on chromosome 15, position 56094863, gene RFX7 (regulatory factor X7), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CCCCAGAAAGTCCTACAGAGATTTTTCACCCTACAGTAGCTCTATGCTTCAAGCCTAAATATTTATAATAACCTGAATATTATCCCTGTTTCAAGGAAGACTTTCTTGTCTACAGTTCACCCTAGCTATGATTTTATATCTAAAAGATAATGCCAACAACAAAACAGCCTATACCTAAAATTGATGGTTTATTCTGAGTTCTGTGCAGATCATCTGATGAAATGAAACTAACTTACACAAAATAAAGATCGACTGCTCTTGTAACAGCTGGATAGTCAATCAATGTGAATAAATGGGGCACATTATAAAATTTAAAACCT... | CCCCAGAAAGTCCTACAGAGATTTTTCACCCTACAGTAGCTCTATGCTTCAAGCCTAAATATTTATAATAACCTGAATATTATCCCTGTTTCAAGGAAGACTTTCTTGTCTACAGTTCACCCTAGCTATGATTTTATATCTAAAAGATAATGCCAACAACAAAACAGCCTATACCTAAAATTGATGGTTTATTCTGAGTTCTGTGCAGATCATCTGATGAAATGAAACTAACTTACACAAAATAAAGATCGACTGCTCTTGTAACAGCTGGATAGTCAATCAATGTGAATAAATGGGGCACATTATAAAATTTAAAACCT... | benign | 234,189 |
Variant at chromosome position 57273119, chromosome 15, gene TCF12 (transcription factor 12): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic | CCATGCTGGGAGAACCACTGTTCTCTTCAGGGCTGTCAGGCAGGGATATTTAAGTCTGGAGAAACTGTCTGCTGCCTTTTGTTCAGATACGCCCTGCCCTCAGAGGTGGAATCTAGAGAGGCAGTAGGCCTTGCTAGGCTGCGGTGGGCTCCGCCCAGTTCGAGCTTCCCTGCCACTTCGTTCACACAGTGAACATAAAACCACCTACTCAAGCCTCAGTAATGGTGGATGCCCCTCCCCCTGCCAAAGTTAGGCATCCCAGGTCGATCTCAGACTGCTGCGCTAGCAGCAAGCAAGGCTCCGTGGGCCTGGGACCCACC... | CCATGCTGGGAGAACCACTGTTCTCTTCAGGGCTGTCAGGCAGGGATATTTAAGTCTGGAGAAACTGTCTGCTGCCTTTTGTTCAGATACGCCCTGCCCTCAGAGGTGGAATCTAGAGAGGCAGTAGGCCTTGCTAGGCTGCGGTGGGCTCCGCCCAGTTCGAGCTTCCCTGCCACTTCGTTCACACAGTGAACATAAAACCACCTACTCAAGCCTCAGTAATGGTGGATGCCCCTCCCCCTGCCAAAGTTAGGCATCCCAGGTCGATCTCAGACTGCTGCGCTAGCAGCAAGCAAGGCTCCGTGGGCCTGGGACCCACC... | pathogenic | 234,238 |
Gene MYO1E (myosin IE) variant at chromosome position 59173735 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CAACCTTTTCTTGGTACCTTCTTCCTGACATATCAAGACTTGCTGAGACTAGGGAGTCTTCCCTTTGGGACAAAGGGAAATTCCATTCTCTTGATCATGATTTTGACAGCTGGGAAGCCCAGCCCGGCCTTCCTCCTGGCTGTTTGGAACAGCGGACCGTGATGCTGAGGCGAGAAGGGGCAGTCCTGCCTCTGCACCTCCACTACTCACCTGAGGGACACAGACAAGATCCGTTCTATCTCGATTTTCCGCTTCAGGACTTCTTTCACCAGGCCCTTGTCTGGGCCCTGTTTGACTTTTTCTCGTCCGATTAAGTACAA... | CAACCTTTTCTTGGTACCTTCTTCCTGACATATCAAGACTTGCTGAGACTAGGGAGTCTTCCCTTTGGGACAAAGGGAAATTCCATTCTCTTGATCATGATTTTGACAGCTGGGAAGCCCAGCCCGGCCTTCCTCCTGGCTGTTTGGAACAGCGGACCGTGATGCTGAGGCGAGAAGGGGCAGTCCTGCCTCTGCACCTCCACTACTCACCTGAGGGACACAGACAAGATCCGTTCTATCTCGATTTTCCGCTTCAGGACTTCTTTCACCAGGCCCTTGTCTGGGCCCTGTTTGACTTTTTCTCGTCCGATTAAGTACAA... | benign | 234,353 |
Mutation found at chromosome 15 position 59236680, gene MYO1E (myosin IE): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CAATGTGGTGAAACCCTGTCCCTACCAAAAACAAACAAAAATTAGCCAGGCATGGTGGCACACACCTGTGGTCCCAGCTACTTGGGAGGTTGAGGTGGAAGGGAATGCATAAGCCCAGGAGCAGGAGGCTACAGTGAGCTGAGATCATGCCACTGCACTTCAGCCTGGGTGACAGAGTGAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAGGGAACCACAATAAAGAGAATTTTATGTGTCTTTTGAAAGTCTACAGCTGACCATGGCAATAACATTACATAATTCTGATTTAAAAAACTAATCTTTGGAAGGAATTCT... | CAATGTGGTGAAACCCTGTCCCTACCAAAAACAAACAAAAATTAGCCAGGCATGGTGGCACACACCTGTGGTCCCAGCTACTTGGGAGGTTGAGGTGGAAGGGAATGCATAAGCCCAGGAGCAGGAGGCTACAGTGAGCTGAGATCATGCCACTGCACTTCAGCCTGGGTGACAGAGTGAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAGGGAACCACAATAAAGAGAATTTTATGTGTCTTTTGAAAGTCTACAGCTGACCATGGCAATAACATTACATAATTCTGATTTAAAAAACTAATCTTTGGAAGGAATTCT... | benign | 234,406 |
Regarding the variant found on chromosome 15 at position 61909134 in gene VPS13C (vacuolar protein sorting 13 homolog C): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | AAGGTAATATACTGGTTTGAACTACAGTATTTGCCATCTAAAGTCCAAAAGCTACTTTTTCTGGAAATACTTCCAATTCACTTTTAGTTCAATTAGGACAAGGAGTCAGTGAAGATAGCTTCTCTACTTCCTTCACTGTCAGGTAACTCATATAGCACTCATTCACATCAAAAGATACCTTTAACAGATCATGTTCCCCAACATTTGCTGCATATGTCCATGTAAGTTTTCTGGTACCAGTAGGATCTGCCCAGGCAAAAAGTCGAGCCTGTCTTGGCAGCAAGACCATTTCTTCTGGTGACCCACTAAAACACAATGAA... | AAGGTAATATACTGGTTTGAACTACAGTATTTGCCATCTAAAGTCCAAAAGCTACTTTTTCTGGAAATACTTCCAATTCACTTTTAGTTCAATTAGGACAAGGAGTCAGTGAAGATAGCTTCTCTACTTCCTTCACTGTCAGGTAACTCATATAGCACTCATTCACATCAAAAGATACCTTTAACAGATCATGTTCCCCAACATTTGCTGCATATGTCCATGTAAGTTTTCTGGTACCAGTAGGATCTGCCCAGGCAAAAAGTCGAGCCTGTCTTGGCAGCAAGACCATTTCTTCTGGTGACCCACTAAAACACAATGAA... | benign | 234,463 |
Chromosome 15, position 61920161, gene VPS13C (vacuolar protein sorting 13 homolog C): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic | TAATACATTTAAGAAGTATCTACCTATATGAATCTAAAGGAACATGGAACTCCTCTTCAGGTCTGGCTATCCCAATGCGCTCCAATAGCTTAACATTCTTAACAAATTTATAGATGATAAATGCAATGGAGAAATGGTTTTTGATCTGTTGGACAAAAAAAAATACAAGTTTTTTAAAAGATATGTAAGTTCGAAAGAAAAAATGAGAGCCACAAACAAATACTTTTAGATCTAAAAAATTTCAAACTCAGTATTGGAAGATATTTTTATTGGCAATTGAAAAATTTTAGGGTATTTAAGTGCTATATATATTAAATTTA... | TAATACATTTAAGAAGTATCTACCTATATGAATCTAAAGGAACATGGAACTCCTCTTCAGGTCTGGCTATCCCAATGCGCTCCAATAGCTTAACATTCTTAACAAATTTATAGATGATAAATGCAATGGAGAAATGGTTTTTGATCTGTTGGACAAAAAAAAATACAAGTTTTTTAAAAGATATGTAAGTTCGAAAGAAAAAATGAGAGCCACAAACAAATACTTTTAGATCTAAAAAATTTCAAACTCAGTATTGGAAGATATTTTTATTGGCAATTGAAAAATTTTAGGGTATTTAAGTGCTATATATATTAAATTTA... | pathogenic | 234,484 |
Does the chromosome 15 mutation at position 63042913 within gene TPM1 (tropomyosin 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiomyopathy', 'TPM1-related_disorder'] | AAAAGAAAAGTCAGTAACATGTGGTCCCGCAAGGAGTTTCTCTAGTTCAGTTGCCTCTTTTTATAAGTGAGAAAAAAGGCTTAGAGAGATTGTAACATGGCTAAGGTCACACTGCAAGGAAGTGACCAGGCCAGGTCTGGATCCCTGGAACTGACTCCTAACTCCCTATTCTTGCCTCCTCTGCTGAGCTCCAACCTGGGGAGTCAGCTCCCTGGAGTCCACGCATCTGGATATCGTCCACATGCCTGGAACTTTGTCACTGTTCCGGTGGCTGGGTTGACACACCGTGATTAAAGGGCTCTGGTCAATTTCTGTGCCAC... | AAAAGAAAAGTCAGTAACATGTGGTCCCGCAAGGAGTTTCTCTAGTTCAGTTGCCTCTTTTTATAAGTGAGAAAAAAGGCTTAGAGAGATTGTAACATGGCTAAGGTCACACTGCAAGGAAGTGACCAGGCCAGGTCTGGATCCCTGGAACTGACTCCTAACTCCCTATTCTTGCCTCCTCTGCTGAGCTCCAACCTGGGGAGTCAGCTCCCTGGAGTCCACGCATCTGGATATCGTCCACATGCCTGGAACTTTGTCACTGTTCCGGTGGCTGGGTTGACACACCGTGATTAAAGGGCTCTGGTCAATTTCTGTGCCAC... | pathogenic | 234,595 |
Clinically, how would you classify the variant at chromosome 15, position 63061799, gene TPM1 (tropomyosin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | AGTCTTGATTCCCGAGTGAGGCCATCTGCTTTGTTGGCAGAAATGGGTGGTTTTGAGAAGCAGAGTTCCTTTGTGTCCAGAAAACGGTTCTAATTTTAATCCTGCTAGGGGATCCCAGGCTTTATCAGGAAGCCAATCAGTAGCACTGCGAAGAAGGACCAAAACTCCTCTCCCCCAGCCACAAAGACCCGGACAAAAGATCTTTGGCCGGAAGGGAGAGTTGGGCCCTGTGTCTTGTGAAAGGAGGCTCTCATGCTGTCATGGTGCAAGTCATTTCTTCCCAGAGTGACCTGGCACATCCAGATTGGGCAGCTTAGAGA... | AGTCTTGATTCCCGAGTGAGGCCATCTGCTTTGTTGGCAGAAATGGGTGGTTTTGAGAAGCAGAGTTCCTTTGTGTCCAGAAAACGGTTCTAATTTTAATCCTGCTAGGGGATCCCAGGCTTTATCAGGAAGCCAATCAGTAGCACTGCGAAGAAGGACCAAAACTCCTCTCCCCCAGCCACAAAGACCCGGACAAAAGATCTTTGGCCGGAAGGGAGAGTTGGGCCCTGTGTCTTGTGAAAGGAGGCTCTCATGCTGTCATGGTGCAAGTCATTTCTTCCCAGAGTGACCTGGCACATCCAGATTGGGCAGCTTAGAGA... | benign | 234,691 |
A genetic variant on chromosome 15, position 63633980, affects the gene HERC1 (HECT and RLD domain containing E3 ubiquitin protein ligase family member 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CTGGGTTTTTTAGATGATACGAATAAGGATTTAACTACTATCATTATGCAGCTAATGTCCTAAACCTACATCTTCATAATCAATCCTTCTGGAGTTCCAGATCTAAATTCTCAATAGCCTAGTGGACATTTCCACACATTTATTTAGGGCAAATGGGTCCATTCAACATAACTAAAACTAAATTCCTTACCCTTCCCCACAAACCAGCTCATGTCCTCAGTCAGAGGCATCGATGTTCTCCCACAACTAGAAACTTCAGTCATGGTTTACTTCCTCTTCCTCACACCTGTCTCACATATCCCTAAACAACTACCCTTGCC... | CTGGGTTTTTTAGATGATACGAATAAGGATTTAACTACTATCATTATGCAGCTAATGTCCTAAACCTACATCTTCATAATCAATCCTTCTGGAGTTCCAGATCTAAATTCTCAATAGCCTAGTGGACATTTCCACACATTTATTTAGGGCAAATGGGTCCATTCAACATAACTAAAACTAAATTCCTTACCCTTCCCCACAAACCAGCTCATGTCCTCAGTCAGAGGCATCGATGTTCTCCCACAACTAGAAACTTCAGTCATGGTTTACTTCCTCTTCCTCACACCTGTCTCACATATCCCTAAACAACTACCCTTGCC... | benign | 234,778 |
For chromosome 15, position 63649707, gene HERC1 (HECT and RLD domain containing E3 ubiquitin protein ligase family member 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CTATGCAGCCATAAAAAGAATGAAATCAGGTATTTTAAGCAACATGGTTGGAACTGAAGCCCATTATCTTAAGTGAAATAAGTCAGACACAGAAAGGCAAATATTACATTTTTTTCACTTTTAAGTGGTTATTATTAAAAAGACAAAAAACAACAGATGTTGGCAAGAAAGTGGTGAAAAGGGAACTCACGTGTACACACGGGCCTAGAGTGTGGAATGATAGACAAGGGAGACTTGGAAGGTGAGGGCTGGGAGGAGGATGGATTATGAGAGATTACTTGATGGGTACAATGTATGTCATTTGGGTGATGGATATCTTA... | CTATGCAGCCATAAAAAGAATGAAATCAGGTATTTTAAGCAACATGGTTGGAACTGAAGCCCATTATCTTAAGTGAAATAAGTCAGACACAGAAAGGCAAATATTACATTTTTTTCACTTTTAAGTGGTTATTATTAAAAAGACAAAAAACAACAGATGTTGGCAAGAAAGTGGTGAAAAGGGAACTCACGTGTACACACGGGCCTAGAGTGTGGAATGATAGACAAGGGAGACTTGGAAGGTGAGGGCTGGGAGGAGGATGGATTATGAGAGATTACTTGATGGGTACAATGTATGTCATTTGGGTGATGGATATCTTA... | benign | 234,803 |
Evaluate if the mutation on chromosome 15 at position 63712910 in HERC1 (HECT and RLD domain containing E3 ubiquitin protein ligase family member 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CCAGTGTGACAGAAGGAGAATCACTGAGGAGAGTAACAGAAGAGATCAGAGAGGTAGTGGGACCAGACCATGAAGAGCCTATAGACCCCTGTAAGGACTTAGACTTCTAGTCTGAGAAAAGGGAAGTCATTGCAGGACTCTGAGCAGAGAAACGACATGATCTATGTTTCAAAATTATTGCAGGGTTGGGAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAAGCAGGAGGATCACTTGAGGCCAGGAGTTTAAGATCAGCCTGGGCAACAGAGCAAGACATAAAAATTTAAAAAATTAGCC... | CCAGTGTGACAGAAGGAGAATCACTGAGGAGAGTAACAGAAGAGATCAGAGAGGTAGTGGGACCAGACCATGAAGAGCCTATAGACCCCTGTAAGGACTTAGACTTCTAGTCTGAGAAAAGGGAAGTCATTGCAGGACTCTGAGCAGAGAAACGACATGATCTATGTTTCAAAATTATTGCAGGGTTGGGAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAAGCAGGAGGATCACTTGAGGCCAGGAGTTTAAGATCAGCCTGGGCAACAGAGCAAGACATAAAAATTTAAAAAATTAGCC... | benign | 234,865 |
Is the variant located on chromosome 15 at position 63712910, gene HERC1 (HECT and RLD domain containing E3 ubiquitin protein ligase family member 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CCAGTGTGACAGAAGGAGAATCACTGAGGAGAGTAACAGAAGAGATCAGAGAGGTAGTGGGACCAGACCATGAAGAGCCTATAGACCCCTGTAAGGACTTAGACTTCTAGTCTGAGAAAAGGGAAGTCATTGCAGGACTCTGAGCAGAGAAACGACATGATCTATGTTTCAAAATTATTGCAGGGTTGGGAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAAGCAGGAGGATCACTTGAGGCCAGGAGTTTAAGATCAGCCTGGGCAACAGAGCAAGACATAAAAATTTAAAAAATTAGCC... | CCAGTGTGACAGAAGGAGAATCACTGAGGAGAGTAACAGAAGAGATCAGAGAGGTAGTGGGACCAGACCATGAAGAGCCTATAGACCCCTGTAAGGACTTAGACTTCTAGTCTGAGAAAAGGGAAGTCATTGCAGGACTCTGAGCAGAGAAACGACATGATCTATGTTTCAAAATTATTGCAGGGTTGGGAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAAGCAGGAGGATCACTTGAGGCCAGGAGTTTAAGATCAGCCTGGGCAACAGAGCAAGACATAAAAATTTAAAAAATTAGCC... | benign | 234,866 |
Assess the variant on chromosome 15, position 63712910, impacting HERC1 (HECT and RLD domain containing E3 ubiquitin protein ligase family member 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CCAGTGTGACAGAAGGAGAATCACTGAGGAGAGTAACAGAAGAGATCAGAGAGGTAGTGGGACCAGACCATGAAGAGCCTATAGACCCCTGTAAGGACTTAGACTTCTAGTCTGAGAAAAGGGAAGTCATTGCAGGACTCTGAGCAGAGAAACGACATGATCTATGTTTCAAAATTATTGCAGGGTTGGGAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAAGCAGGAGGATCACTTGAGGCCAGGAGTTTAAGATCAGCCTGGGCAACAGAGCAAGACATAAAAATTTAAAAAATTAGCC... | CCAGTGTGACAGAAGGAGAATCACTGAGGAGAGTAACAGAAGAGATCAGAGAGGTAGTGGGACCAGACCATGAAGAGCCTATAGACCCCTGTAAGGACTTAGACTTCTAGTCTGAGAAAAGGGAAGTCATTGCAGGACTCTGAGCAGAGAAACGACATGATCTATGTTTCAAAATTATTGCAGGGTTGGGAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAAGCAGGAGGATCACTTGAGGCCAGGAGTTTAAGATCAGCCTGGGCAACAGAGCAAGACATAAAAATTTAAAAAATTAGCC... | benign | 234,867 |
Assess the variant on chromosome 15, position 63774942, impacting HERC1 (HECT and RLD domain containing E3 ubiquitin protein ligase family member 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Inborn_genetic_diseases'] | AATTGTAAAACATGACCCAATATTTACCATTTAGTTCATAAATGCAAAAAGTAGGTGAAAACTTAAATGTCCCTGGTTTGAAAATAAATTCAACATAATTGGATTTTATGAGACACTCCTGTCCAAAAGCTTTCTACTTGTTGCGGGTAGGGGGAGACTTGAAATATACATATATCATTTATAAGTGACATTTTTAGTTATTTTAACTAAATAGATTTGTTGGTTGACATCTGGTAACAAAGGATACCGAAAAGACTAATCAATGTAGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCAGTGTGGGAGGCCAAGGT... | AATTGTAAAACATGACCCAATATTTACCATTTAGTTCATAAATGCAAAAAGTAGGTGAAAACTTAAATGTCCCTGGTTTGAAAATAAATTCAACATAATTGGATTTTATGAGACACTCCTGTCCAAAAGCTTTCTACTTGTTGCGGGTAGGGGGAGACTTGAAATATACATATATCATTTATAAGTGACATTTTTAGTTATTTTAACTAAATAGATTTGTTGGTTGACATCTGGTAACAAAGGATACCGAAAAGACTAATCAATGTAGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCAGTGTGGGAGGCCAAGGT... | pathogenic | 234,911 |
A mutation at chromosome position 64155818 on chromosome 15 in gene PPIB: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CTGGCCTGGGCCCTGAAGTCTGTTTTCCCTTTGGTGCCTCCTGAGCCCATTTCCCACTCACCTTTTCCTTCATGGGTCCCTGGTGATGGCAACCCCGTCTCCACCCCTCTGTGGGATTCTGCCCTGCCTCCCGCACCCATGGTTCATGACCCTGTTTCCTCCCAGCTCCCAGCAGCACCAGCGGCCTGTCCTGAGCTTCCATGTGGATCCCTATGTTTGCAACCCCTCCCCAGGTGAGGAGGTGCCTAGATATGGGGCTACAGGGCTGGGTTGTGGGCTTTGCATTTCTCGGCTCCTGGGACCCTCAGACAGCATCTCCT... | CTGGCCTGGGCCCTGAAGTCTGTTTTCCCTTTGGTGCCTCCTGAGCCCATTTCCCACTCACCTTTTCCTTCATGGGTCCCTGGTGATGGCAACCCCGTCTCCACCCCTCTGTGGGATTCTGCCCTGCCTCCCGCACCCATGGTTCATGACCCTGTTTCCTCCCAGCTCCCAGCAGCACCAGCGGCCTGTCCTGAGCTTCCATGTGGATCCCTATGTTTGCAACCCCTCCCCAGGTGAGGAGGTGCCTAGATATGGGGCTACAGGGCTGGGTTGTGGGCTTTGCATTTCTCGGCTCCTGGGACCCTCAGACAGCATCTCCT... | benign | 234,922 |
A genetic variant on chromosome 15, position 64155820, affects the gene PPIB. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GGCCTGGGCCCTGAAGTCTGTTTTCCCTTTGGTGCCTCCTGAGCCCATTTCCCACTCACCTTTTCCTTCATGGGTCCCTGGTGATGGCAACCCCGTCTCCACCCCTCTGTGGGATTCTGCCCTGCCTCCCGCACCCATGGTTCATGACCCTGTTTCCTCCCAGCTCCCAGCAGCACCAGCGGCCTGTCCTGAGCTTCCATGTGGATCCCTATGTTTGCAACCCCTCCCCAGGTGAGGAGGTGCCTAGATATGGGGCTACAGGGCTGGGTTGTGGGCTTTGCATTTCTCGGCTCCTGGGACCCTCAGACAGCATCTCCTTC... | GGCCTGGGCCCTGAAGTCTGTTTTCCCTTTGGTGCCTCCTGAGCCCATTTCCCACTCACCTTTTCCTTCATGGGTCCCTGGTGATGGCAACCCCGTCTCCACCCCTCTGTGGGATTCTGCCCTGCCTCCCGCACCCATGGTTCATGACCCTGTTTCCTCCCAGCTCCCAGCAGCACCAGCGGCCTGTCCTGAGCTTCCATGTGGATCCCTATGTTTGCAACCCCTCCCCAGGTGAGGAGGTGCCTAGATATGGGGCTACAGGGCTGGGTTGTGGGCTTTGCATTTCTCGGCTCCTGGGACCCTCAGACAGCATCTCCTTC... | benign | 234,923 |
Mutation found at chromosome 15 position 64156114, gene PPIB: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_9'] | TGGGACCCTCAGACAGCATCTCCTTCCTGCTGCCCACCTCTGGAGCCACTACCTCCTGCTCCTGTCCCCTGGAGCCTGCTTTGTAGACACAAGGAAAACAAGTTTGGCTTCCCTGGTCTCCATTTCTTCAGCAGCCTGACTTCTTTACCAAGCTGATGTGAAAAGAATGTGACCTGGGAATGCGGAGGCTTCATTTGGGGTGGACAGCTGCTGTCTGCTGCCTTGGCAGGGGCTCCTACTCCCAAGTGGGGGCTGAGCCCATGAGCAGGAGCTCAAGGAGCTGCAGGTCTGAGGCCAGACCTGTTTAATTCTATCCCACA... | TGGGACCCTCAGACAGCATCTCCTTCCTGCTGCCCACCTCTGGAGCCACTACCTCCTGCTCCTGTCCCCTGGAGCCTGCTTTGTAGACACAAGGAAAACAAGTTTGGCTTCCCTGGTCTCCATTTCTTCAGCAGCCTGACTTCTTTACCAAGCTGATGTGAAAAGAATGTGACCTGGGAATGCGGAGGCTTCATTTGGGGTGGACAGCTGCTGTCTGCTGCCTTGGCAGGGGCTCCTACTCCCAAGTGGGGGCTGAGCCCATGAGCAGGAGCTCAAGGAGCTGCAGGTCTGAGGCCAGACCTGTTTAATTCTATCCCACA... | pathogenic | 234,925 |
Evaluate this variant at chromosome 15, position 64156817, gene PPIB: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Osteogenesis_imperfecta_type_9'] | GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGACCACCATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAAGCTGAGGTAGGAGAATCTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAATGCAATGGCACGATCTCGGCTCACGGCAACCCCCGCTTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTC... | GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGACCACCATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAAGCTGAGGTAGGAGAATCTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAATGCAATGGCACGATCTCGGCTCACGGCAACCCCCGCTTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTC... | pathogenic | 234,928 |
Clinically, how would you classify the variant at chromosome 15, position 64969322, gene SPG21 (SPG21 abhydrolase domain containing, maspardin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_spastic_paraplegia', 'Mast_syndrome'] | AAAAATAAATAAAAAAAAATTAAAAGCAGGAACTCAAACAAATATACATATATTTTTTGACAGGTTCTCACTCTGTTGCCCAGGCTGGAACGCAGTGGCATGATCATGGCTCACCCCAGGCTCAGGTGATCCTCCCACCTCAACCTCCCAAGTAGCTGGGATCACAGGGATGTGGCACCATGTCCAGCTAATTTTCCTTTTTTTTTTTTTCTTTTTTTTGAGACGAAGTCTCACTCTATTGGCAGGCTGGAATGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCGCCCAGATTCAAGCAATTCTCCTGCCTCAGC... | AAAAATAAATAAAAAAAAATTAAAAGCAGGAACTCAAACAAATATACATATATTTTTTGACAGGTTCTCACTCTGTTGCCCAGGCTGGAACGCAGTGGCATGATCATGGCTCACCCCAGGCTCAGGTGATCCTCCCACCTCAACCTCCCAAGTAGCTGGGATCACAGGGATGTGGCACCATGTCCAGCTAATTTTCCTTTTTTTTTTTTTCTTTTTTTTGAGACGAAGTCTCACTCTATTGGCAGGCTGGAATGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCGCCCAGATTCAAGCAATTCTCCTGCCTCAGC... | pathogenic | 234,983 |
Clinical impact (benign or pathogenic) of the variant at chromosome 15, location 65003115, gene MTFMT (mitochondrial methionyl-tRNA formyltransferase): what disease(s) if pathogenic? | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_15'] | ACACAATGCTTCCCTTATGCCTCTACTATGGCATTTATAACTATTATATTCGCTTACACATTTGTCTCCCTGGTAGGTTGAAGATGTCAAATATTTGATCTCTGAATCTCTGGTAACCAGTTTGAAGTTCTAGTTACACAGTAAGTGCTCAATACATCAGATGACCACACAACCCAGTTTGCCTGGGAGAGTCCTGGTTTATGTCTGTTGCCCTGGAGTAATTATAAGTGCTTCTTTCACTCATAAAAGCATCCTAACTTAGATGACCAAATCACCCTATCCATAAATGTTGAATTAACAAATGACTTAAAGAATAGAGA... | ACACAATGCTTCCCTTATGCCTCTACTATGGCATTTATAACTATTATATTCGCTTACACATTTGTCTCCCTGGTAGGTTGAAGATGTCAAATATTTGATCTCTGAATCTCTGGTAACCAGTTTGAAGTTCTAGTTACACAGTAAGTGCTCAATACATCAGATGACCACACAACCCAGTTTGCCTGGGAGAGTCCTGGTTTATGTCTGTTGCCCTGGAGTAATTATAAGTGCTTCTTTCACTCATAAAAGCATCCTAACTTAGATGACCAAATCACCCTATCCATAAATGTTGAATTAACAAATGACTTAAAGAATAGAGA... | pathogenic | 235,000 |
Determine if the mutation at chromosome 15, position 65003130 in gene MTFMT (mitochondrial methionyl-tRNA formyltransferase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Mitochondrial_oxidative_phosphorylation_disorder'] | TATGCCTCTACTATGGCATTTATAACTATTATATTCGCTTACACATTTGTCTCCCTGGTAGGTTGAAGATGTCAAATATTTGATCTCTGAATCTCTGGTAACCAGTTTGAAGTTCTAGTTACACAGTAAGTGCTCAATACATCAGATGACCACACAACCCAGTTTGCCTGGGAGAGTCCTGGTTTATGTCTGTTGCCCTGGAGTAATTATAAGTGCTTCTTTCACTCATAAAAGCATCCTAACTTAGATGACCAAATCACCCTATCCATAAATGTTGAATTAACAAATGACTTAAAGAATAGAGAAAGACTTTCACTGTC... | TATGCCTCTACTATGGCATTTATAACTATTATATTCGCTTACACATTTGTCTCCCTGGTAGGTTGAAGATGTCAAATATTTGATCTCTGAATCTCTGGTAACCAGTTTGAAGTTCTAGTTACACAGTAAGTGCTCAATACATCAGATGACCACACAACCCAGTTTGCCTGGGAGAGTCCTGGTTTATGTCTGTTGCCCTGGAGTAATTATAAGTGCTTCTTTCACTCATAAAAGCATCCTAACTTAGATGACCAAATCACCCTATCCATAAATGTTGAATTAACAAATGACTTAAAGAATAGAGAAAGACTTTCACTGTC... | pathogenic | 235,001 |
Variant chromosome 15, position 65006095, gene MTFMT (mitochondrial methionyl-tRNA formyltransferase): benign or pathogenic? Disease(s)? | benign | GCTCTTATTGCCCAGGCTGGAGTGTGATGGCACGATCTCGGCTCACCACAACCTCCGCTTCCCGGGCTCAAGCGATTCTCCTGCCTAAGCCTCCCAAGTAGCTGGGATTACAGGCGTCTGCCACCACGCTCGACTAATTTTTGTACTGTTAGTAAAGACGGGGTTTCTCTATGTTGGTCAGTCTGGTCTCGAATTCCCGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATAACATGTGTGAGCCACCTTGCCCGGCTAAACACTCTTAAGTATGAAATATCTCACATGAACACCATATGATGCAAAA... | GCTCTTATTGCCCAGGCTGGAGTGTGATGGCACGATCTCGGCTCACCACAACCTCCGCTTCCCGGGCTCAAGCGATTCTCCTGCCTAAGCCTCCCAAGTAGCTGGGATTACAGGCGTCTGCCACCACGCTCGACTAATTTTTGTACTGTTAGTAAAGACGGGGTTTCTCTATGTTGGTCAGTCTGGTCTCGAATTCCCGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATAACATGTGTGAGCCACCTTGCCCGGCTAAACACTCTTAAGTATGAAATATCTCACATGAACACCATATGATGCAAAA... | benign | 235,006 |
A genetic variant at chromosome 15, position 65027027, affecting gene MTFMT (mitochondrial methionyl-tRNA formyltransferase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_15'] | GTAAATGCTCGGCAAATTCAAGGCACAGCTGGGAGGCCAGTTAGGCCTGGCCTTTTATTGAGTAAGACAGAAAATTACCAGAGGATTTTGAGCAGAGTGACATGATCTGACTTGTTTTAAAAGGATCACTTTGAGGCAGGGTACAGTGGCTCATGCCTGTAATCCCAAAACTTTGGGAGGCCAAGGCAGGAAGATCACATGCAGCCAGGAGTTTGGGACCAGGTTGGGCCACATAGCGAGATCCCTGTCTCTAAAAAAAAAAAAAAAAAAAAAAGAGTTAGCTGGGTGTGTTGGCACATTCCTATAGTCTCAGCTACTCA... | GTAAATGCTCGGCAAATTCAAGGCACAGCTGGGAGGCCAGTTAGGCCTGGCCTTTTATTGAGTAAGACAGAAAATTACCAGAGGATTTTGAGCAGAGTGACATGATCTGACTTGTTTTAAAAGGATCACTTTGAGGCAGGGTACAGTGGCTCATGCCTGTAATCCCAAAACTTTGGGAGGCCAAGGCAGGAAGATCACATGCAGCCAGGAGTTTGGGACCAGGTTGGGCCACATAGCGAGATCCCTGTCTCTAAAAAAAAAAAAAAAAAAAAAAGAGTTAGCTGGGTGTGTTGGCACATTCCTATAGTCTCAGCTACTCA... | pathogenic | 235,026 |
Variant in gene MTFMT (mitochondrial methionyl-tRNA formyltransferase), located at chromosome 15 position 65029460: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_15'] | TGGTCTCCAACTCCTGACCTCAAGTGATCCGTCCGCCTCCACCTCCCAAAGTGCTGGGATTACAGGCGTGAACACCGTGCCCAGCCTCAGTTTTCATTTTTTATTTAATTTTAATTATTTAAAATGTAAAGAGTGACACGTGGCTAGTGGCTACTGTTTGAACAGTATCATTCTAGGGATTTCCTGTGCATACAGAAACATATACAGTATGGATACTTTACACAACTGGGATATTACATACTGCTTTGCATTTTTTTTCCTTTTAACAATGCTATATATGCTATTATGTGTCTTTTTGAAAAATGGGTTAAATATACGTA... | TGGTCTCCAACTCCTGACCTCAAGTGATCCGTCCGCCTCCACCTCCCAAAGTGCTGGGATTACAGGCGTGAACACCGTGCCCAGCCTCAGTTTTCATTTTTTATTTAATTTTAATTATTTAAAATGTAAAGAGTGACACGTGGCTAGTGGCTACTGTTTGAACAGTATCATTCTAGGGATTTCCTGTGCATACAGAAACATATACAGTATGGATACTTTACACAACTGGGATATTACATACTGCTTTGCATTTTTTTTCCTTTTAACAATGCTATATATGCTATTATGTGTCTTTTTGAAAAATGGGTTAAATATACGTA... | pathogenic | 235,032 |
Determine whether the variant at chromosome 15, position 65624833, in gene SLC24A1 (solute carrier family 24 member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Congenital_stationary_night_blindness_1D', 'Congenital_stationary_night_blindness_autosomal_dominant_2', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'SLC24A1-related_disorder'] | AGGCTGGAGTGCAATGGTATGATCTCAACTCACTGCAACCTCTGCCTGCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGTGTACCTGGGATTACAGGCATGCACCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCAGCCTCCCAAAGTGCAGGGATTCCAAGCATGAGCCACCGTGCTCAGCCTGTTCAATGCTTTTCATATGTTTTTACTCGCTCAACATTCCTGTGACACTGTTATTATTCATA... | AGGCTGGAGTGCAATGGTATGATCTCAACTCACTGCAACCTCTGCCTGCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGTGTACCTGGGATTACAGGCATGCACCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCAGCCTCCCAAAGTGCAGGGATTCCAAGCATGAGCCACCGTGCTCAGCCTGTTCAATGCTTTTCATATGTTTTTACTCGCTCAACATTCCTGTGACACTGTTATTATTCATA... | pathogenic | 235,113 |
Clinical significance of chromosome 15, position 65625210, gene SLC24A1 (solute carrier family 24 member 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy'] | TAACAGAATATACAGTGAAAATAAGTCACCTTCTGACCTTTGATCCTCAGTTTCCCTTCCCCAGATGTCCTTCTAGAGATTATCTTTGCATAAACAATATATATGTTATCATGCCCATTTCACAGATGAGGCACCAAGGCTCAGCCTGTCCAGGATGACACAGCTGGTAAGCAGCAGAACAGGGAGTCTAGGCTTTCAACTCCATTCCCCATGATCCTCCCACCATGCCATATTCTCTGGGAAGCTCTATAACATTAACTTTTAAGCTTTGCCCACTCTGGATGGTGGAATTGTTTTAAGTCAGTTCAAAAAAATACATG... | TAACAGAATATACAGTGAAAATAAGTCACCTTCTGACCTTTGATCCTCAGTTTCCCTTCCCCAGATGTCCTTCTAGAGATTATCTTTGCATAAACAATATATATGTTATCATGCCCATTTCACAGATGAGGCACCAAGGCTCAGCCTGTCCAGGATGACACAGCTGGTAAGCAGCAGAACAGGGAGTCTAGGCTTTCAACTCCATTCCCCATGATCCTCCCACCATGCCATATTCTCTGGGAAGCTCTATAACATTAACTTTTAAGCTTTGCCCACTCTGGATGGTGGAATTGTTTTAAGTCAGTTCAAAAAAATACATG... | pathogenic | 235,117 |
The mutation impacting MAP2K1 on chromosome 15 at position 66387126: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TATATTTAGTGACTTAATCAACCATCCTGAATGCAACTAACCTCCCATCTAAGCTTCTAGGCCTTCCCCACTTGGATGCCTTGTTCTCCCCTCTTGGGCCCTACGGCTAAGACTTTGTGTAGGACTGCCTCCCAGGTGTTCAAGCCCTCTTCATTTTCTCAGGTTCCTCAGCCTCCTTACCTGCTAGGTCACCAACACCTGGCTGTGGATAACCAGGTGTAGATGTTTCCTTTGTTCTGTACACGTTTCCTTTGTTCTGTACACCTAATGTCTTTGACACTTAGTATTTTAGGATGGGAAAGGGGAAGAGGAACACTGAA... | TATATTTAGTGACTTAATCAACCATCCTGAATGCAACTAACCTCCCATCTAAGCTTCTAGGCCTTCCCCACTTGGATGCCTTGTTCTCCCCTCTTGGGCCCTACGGCTAAGACTTTGTGTAGGACTGCCTCCCAGGTGTTCAAGCCCTCTTCATTTTCTCAGGTTCCTCAGCCTCCTTACCTGCTAGGTCACCAACACCTGGCTGTGGATAACCAGGTGTAGATGTTTCCTTTGTTCTGTACACGTTTCCTTTGTTCTGTACACCTAATGTCTTTGACACTTAGTATTTTAGGATGGGAAAGGGGAAGAGGAACACTGAA... | benign | 235,146 |
Regarding the variant at chromosome 15 and position 66387311, affecting gene MAP2K1: benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AGGTCACCAACACCTGGCTGTGGATAACCAGGTGTAGATGTTTCCTTTGTTCTGTACACGTTTCCTTTGTTCTGTACACCTAATGTCTTTGACACTTAGTATTTTAGGATGGGAAAGGGGAAGAGGAACACTGAATGTGCACTTTTAAATGGGTATTGTGCCTCTTATTAAGCTCTTTATTCACATCTTATTTCTTTAGTAATTCACAGAATTGGAATTTTTGGATTAAAGTTCTTTTTTTTTTTGAGACGGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGATCACTGCAACCTCCGCCTCCC... | AGGTCACCAACACCTGGCTGTGGATAACCAGGTGTAGATGTTTCCTTTGTTCTGTACACGTTTCCTTTGTTCTGTACACCTAATGTCTTTGACACTTAGTATTTTAGGATGGGAAAGGGGAAGAGGAACACTGAATGTGCACTTTTAAATGGGTATTGTGCCTCTTATTAAGCTCTTTATTCACATCTTATTTCTTTAGTAATTCACAGAATTGGAATTTTTGGATTAAAGTTCTTTTTTTTTTTGAGACGGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGATCACTGCAACCTCCGCCTCCC... | benign | 235,148 |
Variant on chromosome 15, at position 66435117, affecting MAP2K1 (mitogen-activated protein kinase kinase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Parkes_Weber_syndrome', 'Vascular_malformation'] | AGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAG... | AGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAG... | pathogenic | 235,165 |
Variant in MAP2K1 (mitogen-activated protein kinase kinase 1), chromosome 15, position 66435118—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cardiofaciocutaneous_syndrome_3', 'RASopathy'] | GGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGC... | GGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGC... | pathogenic | 235,166 |
Variant in gene MAP2K1 (mitogen-activated protein kinase kinase 1), located at chromosome 15 position 66435251: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACC... | TGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCTTCCTGGCTTGCAGATAGCTGCCTTCCTACTGTGTGCTTGCATGGCCTTTCTTTGATGTGTGCAGCAGGTGGGGTGGGGGGAAAATCAGTGAGGAAAATCAGTAACC... | benign | 235,175 |
For chromosome 15, position 66436731, gene MAP2K1 (mitogen-activated protein kinase kinase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGA... | TAAACTGGGGTTTTAAAGCAAATTAAGGTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGA... | benign | 235,181 |
Gene MAP2K1 (mitogen-activated protein kinase kinase 1) variant at chromosome position 66436758 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Vascular_malformation'] | GTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGAC... | GTGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGAC... | pathogenic | 235,185 |
Is the genetic variant on chromosome 15, position 66484977, gene MAP2K1 (mitogen-activated protein kinase kinase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | ACTTGTACAAAGCATTTTATGTGTTCTCTGTCAAAGCACATGTCATGTCCCTGGAAGGTCTCATTTGATCCATGTGGTTGTCCCAGGAAATAAAGATTATTGTTCCCATTTTAGAGGTGAGGAAGTCTAGATTCAGGGAGGTTAAGCAACCTGCCTACTTAACCTTGCTGAGCCAGGATTGAAAGCTAGCTGCCCCCTTGCCAGGCAGACGCCCTTTGCACAGCACACCCTCATTTGCCTCTTGGGGAGGATTTGGCACCTGTGCCCAGATCCCAGTGTGAACACATCCTCATTCCTTCTTGCTGGCACCTACCCCCCAC... | ACTTGTACAAAGCATTTTATGTGTTCTCTGTCAAAGCACATGTCATGTCCCTGGAAGGTCTCATTTGATCCATGTGGTTGTCCCAGGAAATAAAGATTATTGTTCCCATTTTAGAGGTGAGGAAGTCTAGATTCAGGGAGGTTAAGCAACCTGCCTACTTAACCTTGCTGAGCCAGGATTGAAAGCTAGCTGCCCCCTTGCCAGGCAGACGCCCTTTGCACAGCACACCCTCATTTGCCTCTTGGGGAGGATTTGGCACCTGTGCCCAGATCCCAGTGTGAACACATCCTCATTCCTTCTTGCTGGCACCTACCCCCCAC... | benign | 235,226 |
A genetic alteration at chromosome 15, position 66489770, in gene MAP2K1—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CAGGATTAGTTCGTCGCTGCTTAAGGATTTGAGGGAGGCAGAGCATGTTGCATTTGTAGGAGTCAGAAAAAAAGCCATCCATCCTCTACTGCTGGGGACCTAGGCTAGGTGGTTCTGGGTGGTAGTCATATTAAGGGAAGGGATATCTGAGGTTAGATACGCCATTGCGTCTCCTAGTGTGCACTGCTTTCTTCCAAATTTTCACATTAATTTCCCATGCAATTCTCCCAAGCATTGCTGAGGTAGGCCAAATTGGTTCCTCTTCAAACAGGTGAGGAAATTGAGCCTCCGAGATGAAAAGTAGCCCAGGTCCTTCCCAC... | CAGGATTAGTTCGTCGCTGCTTAAGGATTTGAGGGAGGCAGAGCATGTTGCATTTGTAGGAGTCAGAAAAAAAGCCATCCATCCTCTACTGCTGGGGACCTAGGCTAGGTGGTTCTGGGTGGTAGTCATATTAAGGGAAGGGATATCTGAGGTTAGATACGCCATTGCGTCTCCTAGTGTGCACTGCTTTCTTCCAAATTTTCACATTAATTTCCCATGCAATTCTCCCAAGCATTGCTGAGGTAGGCCAAATTGGTTCCTCTTCAAACAGGTGAGGAAATTGAGCCTCCGAGATGAAAAGTAGCCCAGGTCCTTCCCAC... | benign | 235,250 |
Regarding the variant at chromosome 15 and position 66703723, affecting gene SMAD6 (SMAD family member 6): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Aortic_valve_disease_2', 'Craniosynostosis_7', 'Radioulnar_synostosis,_nonsyndromic,_susceptibility_to'] | CTTTGTGCAAGGAGCGTAGAGCCCCTAGTGCAGTCACGGAAGATCCGCTACCCCAACATATCCGCCGCCCCCTGCTCCTCAGAGGCTCAACCCTGGAAGGCACACATGCACACCCATTTTTATTAGCCTACCCTAGGATGGGGGTTTGGAACAACTTTAAAGTGCAAAGTGTGTTTGTAAGTTTGTGCACAAGCCAGGGAGAGGCAAAGCGCCCCGTTTGCGTCCGAGTCTCAGTGGGTCCGCCGAGCCTTGCGCGCCTGCTCGTGGCTCGTGTAACCCTGTGTGTGTGTGTGTGTGTGTCCGCGCGCGCGTGTGTGCTC... | CTTTGTGCAAGGAGCGTAGAGCCCCTAGTGCAGTCACGGAAGATCCGCTACCCCAACATATCCGCCGCCCCCTGCTCCTCAGAGGCTCAACCCTGGAAGGCACACATGCACACCCATTTTTATTAGCCTACCCTAGGATGGGGGTTTGGAACAACTTTAAAGTGCAAAGTGTGTTTGTAAGTTTGTGCACAAGCCAGGGAGAGGCAAAGCGCCCCGTTTGCGTCCGAGTCTCAGTGGGTCCGCCGAGCCTTGCGCGCCTGCTCGTGGCTCGTGTAACCCTGTGTGTGTGTGTGTGTGTGTCCGCGCGCGCGTGTGTGCTC... | pathogenic | 235,312 |
A genetic variant on chromosome 15, position 66711689, affects the gene SMAD6 (SMAD family member 6). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Inborn_genetic_diseases'] | TAAGGAATTGCAGGCTTTCTGATAAGTTCATGGGGGTGGTGGAAAGGGCATGGAGGTCAGAGACCTGGCTTTGGTTCTGGCTCGATACCTAGCTCCTGAGGGAGTCACTTCCACTCACCAGGCCACAGTCTCCTTCTCTGTACAGTGGAAACACTGGCCTCAATTCTCTTTTCCTGTGGAACTCCAGCCCTTCCTATGCCCTGCCTCTTATCCTGAGAGGCTGGTCCTCACTCAAGGCTGGCCTCTAGGCCTGAGAGCCCCCTAGATCCTCTTTCTGCACATCTTTGGCCACAGATGCATTCAACTTTACCATTATCCTC... | TAAGGAATTGCAGGCTTTCTGATAAGTTCATGGGGGTGGTGGAAAGGGCATGGAGGTCAGAGACCTGGCTTTGGTTCTGGCTCGATACCTAGCTCCTGAGGGAGTCACTTCCACTCACCAGGCCACAGTCTCCTTCTCTGTACAGTGGAAACACTGGCCTCAATTCTCTTTTCCTGTGGAACTCCAGCCCTTCCTATGCCCTGCCTCTTATCCTGAGAGGCTGGTCCTCACTCAAGGCTGGCCTCTAGGCCTGAGAGCCCCCTAGATCCTCTTTCTGCACATCTTTGGCCACAGATGCATTCAACTTTACCATTATCCTC... | pathogenic | 235,360 |
Is the genetic change at chromosome 15, position 66716505, within gene SMAD6 (SMAD family member 6) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CCGGAAGTGGAGTTTTACTTGGAACACAGCCAGGCTTGTCCATTTCCATTTTGTCCATGGCTGAGGCAGAGTTGAGTAGTTGCAGCAGAGGCCGTATAGTTCACAAAGCTGAAAATATTAACCTCTGGCCCTTTATAGAAAAAGCTGGTGAGCCCTGATGTTGCTTGACTCATAGTGGAGGCGGGACCTGAACCTGGAGCTCCAACTTGCAGATGGAGTTCTTCCTCCTTGAGGCTTGAGCAGTGATGGAGGCTGGGAACATTCTTTTGCACAGCAGCCATTGAGACACTGTCCAGGGCCTCACTAGAAACACTAGATGT... | CCGGAAGTGGAGTTTTACTTGGAACACAGCCAGGCTTGTCCATTTCCATTTTGTCCATGGCTGAGGCAGAGTTGAGTAGTTGCAGCAGAGGCCGTATAGTTCACAAAGCTGAAAATATTAACCTCTGGCCCTTTATAGAAAAAGCTGGTGAGCCCTGATGTTGCTTGACTCATAGTGGAGGCGGGACCTGAACCTGGAGCTCCAACTTGCAGATGGAGTTCTTCCTCCTTGAGGCTTGAGCAGTGATGGAGGCTGGGAACATTCTTTTGCACAGCAGCCATTGAGACACTGTCCAGGGCCTCACTAGAAACACTAGATGT... | benign | 235,372 |
Clinical classification of chromosome 15, position 67066206, gene SMAD3 (SMAD family member 3): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | AGGACCAGCAAGGAACGGAAGCCAGGTTGTCAAGCCTCAGTTGGCTTTCACGTATTCTCCTTTTCAGGCGGGTATTTAGGAAGAGAGGAGGGTGAGGAGCACAGCGCACTTCTGCAGCAGCAGCTGCGGATTGGCTTGTGGGAGGCGGTTCTCCGGAGCAAGGCAAGGGCCCCTGCCGCTTCTGGGCTGACTGTGGATTCCGCCACACCTCACAGGGCTTTGTAACTCCCCACCCACTTGAGGGTTCCAGATAACTTTTTTTTTTTAACAAAGCAGGGGTGGGGGTGGGAGATTCCTGCTGTTAAAAACAAACAAAGGGC... | AGGACCAGCAAGGAACGGAAGCCAGGTTGTCAAGCCTCAGTTGGCTTTCACGTATTCTCCTTTTCAGGCGGGTATTTAGGAAGAGAGGAGGGTGAGGAGCACAGCGCACTTCTGCAGCAGCAGCTGCGGATTGGCTTGTGGGAGGCGGTTCTCCGGAGCAAGGCAAGGGCCCCTGCCGCTTCTGGGCTGACTGTGGATTCCGCCACACCTCACAGGGCTTTGTAACTCCCCACCCACTTGAGGGTTCCAGATAACTTTTTTTTTTTAACAAAGCAGGGGTGGGGGTGGGAGATTCCTGCTGTTAAAAACAAACAAAGGGC... | pathogenic | 235,419 |
Gene SMAD3 (SMAD family member 3) variant at chromosome 15, position 67164930—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | CACTCTTGGGGTTCCTTGTTATTTTCGTTCAGGACACTTTCATTGTGTGTAATTGTAGGTTTCTGTGATGATGATGATGATGATGATGATGATGATGATGATGATGATTTGAAACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCCCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTGATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCT... | CACTCTTGGGGTTCCTTGTTATTTTCGTTCAGGACACTTTCATTGTGTGTAATTGTAGGTTTCTGTGATGATGATGATGATGATGATGATGATGATGATGATGATGATTTGAAACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCCCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTGATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCT... | pathogenic | 235,452 |
Regarding the variant at chromosome 15 and position 67164963, affecting gene SMAD3 (SMAD family member 3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | ACACTTTCATTGTGTGTAATTGTAGGTTTCTGTGATGATGATGATGATGATGATGATGATGATGATGATGATGATTTGAAACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCCCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTGATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTGGCCTCAAGCGATCCACCCGCCTCGGCCTCCCA... | ACACTTTCATTGTGTGTAATTGTAGGTTTCTGTGATGATGATGATGATGATGATGATGATGATGATGATGATGATTTGAAACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCCCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTGATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTGGCCTCAAGCGATCCACCCGCCTCGGCCTCCCA... | pathogenic | 235,455 |
Is the genetic variant on chromosome 15, position 67165032, gene SMAD3 (SMAD family member 3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | GATGATTTGAAACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCCCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTGATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTGGCCTCAAGCGATCCACCCGCCTCGGCCTCCCAAAGTGGTTTTGGTGATTATTTGATTAATGCCGGTCTTGCCCAGTGGAATGGAGGGTCCCTGCAGACAGG... | GATGATTTGAAACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCCCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTGATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTGGCCTCAAGCGATCCACCCGCCTCGGCCTCCCAAAGTGGTTTTGGTGATTATTTGATTAATGCCGGTCTTGCCCAGTGGAATGGAGGGTCCCTGCAGACAGG... | pathogenic | 235,463 |
Chromosome 15, position 67165294, gene SMAD3 (SMAD family member 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Aneurysm-osteoarthritis_syndrome', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | GTGATTATTTGATTAATGCCGGTCTTGCCCAGTGGAATGGAGGGTCCCTGCAGACAGGGACCACTTTGCTGGCCTTTTCTCATAGTGAAGTCTCTTTCCTTACCACTGTATCCTTAGTGTCACACATAATAGGTGCTCATTAAATATGTGTTAAATAAGGGACTCCATTTTAGTGGCACCTCCTCACCTGTCTAATACCAGACACTATCTGAAGTTTTACGTCCCTCCAGAAGCCTTCTGCCTCCCAGCCTTGCCTGTAGCTGACAATGCTTTTGCCGCCCCAAGCTCCCCAGTCCTTTCCTGTAAGCCACCCAGACTCT... | GTGATTATTTGATTAATGCCGGTCTTGCCCAGTGGAATGGAGGGTCCCTGCAGACAGGGACCACTTTGCTGGCCTTTTCTCATAGTGAAGTCTCTTTCCTTACCACTGTATCCTTAGTGTCACACATAATAGGTGCTCATTAAATATGTGTTAAATAAGGGACTCCATTTTAGTGGCACCTCCTCACCTGTCTAATACCAGACACTATCTGAAGTTTTACGTCCCTCCAGAAGCCTTCTGCCTCCCAGCCTTGCCTGTAGCTGACAATGCTTTTGCCGCCCCAAGCTCCCCAGTCCTTTCCTGTAAGCCACCCAGACTCT... | pathogenic | 235,477 |
Gene SMAD3 (SMAD family member 3) variant at chromosome 15, position 67165301—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | TTTGATTAATGCCGGTCTTGCCCAGTGGAATGGAGGGTCCCTGCAGACAGGGACCACTTTGCTGGCCTTTTCTCATAGTGAAGTCTCTTTCCTTACCACTGTATCCTTAGTGTCACACATAATAGGTGCTCATTAAATATGTGTTAAATAAGGGACTCCATTTTAGTGGCACCTCCTCACCTGTCTAATACCAGACACTATCTGAAGTTTTACGTCCCTCCAGAAGCCTTCTGCCTCCCAGCCTTGCCTGTAGCTGACAATGCTTTTGCCGCCCCAAGCTCCCCAGTCCTTTCCTGTAAGCCACCCAGACTCTCATCATC... | TTTGATTAATGCCGGTCTTGCCCAGTGGAATGGAGGGTCCCTGCAGACAGGGACCACTTTGCTGGCCTTTTCTCATAGTGAAGTCTCTTTCCTTACCACTGTATCCTTAGTGTCACACATAATAGGTGCTCATTAAATATGTGTTAAATAAGGGACTCCATTTTAGTGGCACCTCCTCACCTGTCTAATACCAGACACTATCTGAAGTTTTACGTCCCTCCAGAAGCCTTCTGCCTCCCAGCCTTGCCTGTAGCTGACAATGCTTTTGCCGCCCCAAGCTCCCCAGTCCTTTCCTGTAAGCCACCCAGACTCTCATCATC... | pathogenic | 235,479 |
Chromosome 15, position 67165343, gene SMAD3 (SMAD family member 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | GCAGACAGGGACCACTTTGCTGGCCTTTTCTCATAGTGAAGTCTCTTTCCTTACCACTGTATCCTTAGTGTCACACATAATAGGTGCTCATTAAATATGTGTTAAATAAGGGACTCCATTTTAGTGGCACCTCCTCACCTGTCTAATACCAGACACTATCTGAAGTTTTACGTCCCTCCAGAAGCCTTCTGCCTCCCAGCCTTGCCTGTAGCTGACAATGCTTTTGCCGCCCCAAGCTCCCCAGTCCTTTCCTGTAAGCCACCCAGACTCTCATCATCCAGATCACCTGGGGATTTCACAAAGGGAAAGATTCTGATTTA... | GCAGACAGGGACCACTTTGCTGGCCTTTTCTCATAGTGAAGTCTCTTTCCTTACCACTGTATCCTTAGTGTCACACATAATAGGTGCTCATTAAATATGTGTTAAATAAGGGACTCCATTTTAGTGGCACCTCCTCACCTGTCTAATACCAGACACTATCTGAAGTTTTACGTCCCTCCAGAAGCCTTCTGCCTCCCAGCCTTGCCTGTAGCTGACAATGCTTTTGCCGCCCCAAGCTCCCCAGTCCTTTCCTGTAAGCCACCCAGACTCTCATCATCCAGATCACCTGGGGATTTCACAAAGGGAAAGATTCTGATTTA... | pathogenic | 235,486 |
Is the chromosome 15, position 67166786 variant in SMAD3 (SMAD family member 3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | TCTCAGCTAGCAGTGCTCTGATCTCCTGGACCTCTGGATCTGGGAGAAATGAGGGGAGAGAGAGCTTTCCAAGTGTCTGAAAGTAGGAGGCCGGACTCTGCAGAAAGCAAGCACAATCCACATTTCCCTCTCTTTCTGCCCCTCCCCGTCCTGGCAGGTCCCTGGATGGCCGGTTGCAGGTGTCCCATCGGAAGGGGCTCCCTCATGTCATCTACTGCCGCCTGTGGCGATGGCCAGACCTGCACAGCCACCACGAGCTACGGGCCATGGAGCTGTGTGAGTTCGCCTTCAATATGAAGAAGGACGAGGTCTGCGTGAAT... | TCTCAGCTAGCAGTGCTCTGATCTCCTGGACCTCTGGATCTGGGAGAAATGAGGGGAGAGAGAGCTTTCCAAGTGTCTGAAAGTAGGAGGCCGGACTCTGCAGAAAGCAAGCACAATCCACATTTCCCTCTCTTTCTGCCCCTCCCCGTCCTGGCAGGTCCCTGGATGGCCGGTTGCAGGTGTCCCATCGGAAGGGGCTCCCTCATGTCATCTACTGCCGCCTGTGGCGATGGCCAGACCTGCACAGCCACCACGAGCTACGGGCCATGGAGCTGTGTGAGTTCGCCTTCAATATGAAGAAGGACGAGGTCTGCGTGAAT... | pathogenic | 235,501 |
Determine whether the variant at chromosome 15, position 67166791, in gene SMAD3 (SMAD family member 3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | GCTAGCAGTGCTCTGATCTCCTGGACCTCTGGATCTGGGAGAAATGAGGGGAGAGAGAGCTTTCCAAGTGTCTGAAAGTAGGAGGCCGGACTCTGCAGAAAGCAAGCACAATCCACATTTCCCTCTCTTTCTGCCCCTCCCCGTCCTGGCAGGTCCCTGGATGGCCGGTTGCAGGTGTCCCATCGGAAGGGGCTCCCTCATGTCATCTACTGCCGCCTGTGGCGATGGCCAGACCTGCACAGCCACCACGAGCTACGGGCCATGGAGCTGTGTGAGTTCGCCTTCAATATGAAGAAGGACGAGGTCTGCGTGAATCCCTA... | GCTAGCAGTGCTCTGATCTCCTGGACCTCTGGATCTGGGAGAAATGAGGGGAGAGAGAGCTTTCCAAGTGTCTGAAAGTAGGAGGCCGGACTCTGCAGAAAGCAAGCACAATCCACATTTCCCTCTCTTTCTGCCCCTCCCCGTCCTGGCAGGTCCCTGGATGGCCGGTTGCAGGTGTCCCATCGGAAGGGGCTCCCTCATGTCATCTACTGCCGCCTGTGGCGATGGCCAGACCTGCACAGCCACCACGAGCTACGGGCCATGGAGCTGTGTGAGTTCGCCTTCAATATGAAGAAGGACGAGGTCTGCGTGAATCCCTA... | pathogenic | 235,502 |
Variant at chromosome 15, position 67170545, gene SMAD3 (SMAD family member 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AGCTGCTGTGTTTCTTCCCACTCTGCGCTCCCTCTTCCCTTTCTGCTGCTCTCCATATTTGCACAATGATTATTGTTACAAACAAACATGGACCAGAGGGGCTGGAGATTGGAAAGAGCAGCCCAGATTTCACCCTGTCAGCTCTTGTTTCTTCTCCCTCCTCTTCCTCCTTGTGCCTCCCTTTACTCTGTCCCCTCTCCCTTCTTCCTTTCTTCTCATTAAGTGTGCCTGCAGGGTCCTGTTGTGAACATGAGTGATTTATCTACAGTAGAGACAGACCAGACTTGCGGACCCCAGCCAGTGTGTGGGTGGGGGCTCTC... | AGCTGCTGTGTTTCTTCCCACTCTGCGCTCCCTCTTCCCTTTCTGCTGCTCTCCATATTTGCACAATGATTATTGTTACAAACAAACATGGACCAGAGGGGCTGGAGATTGGAAAGAGCAGCCCAGATTTCACCCTGTCAGCTCTTGTTTCTTCTCCCTCCTCTTCCTCCTTGTGCCTCCCTTTACTCTGTCCCCTCTCCCTTCTTCCTTTCTTCTCATTAAGTGTGCCTGCAGGGTCCTGTTGTGAACATGAGTGATTTATCTACAGTAGAGACAGACCAGACTTGCGGACCCCAGCCAGTGTGTGGGTGGGGGCTCTC... | benign | 235,508 |
Assess the variant on chromosome 15, position 67170597, impacting SMAD3 (SMAD family member 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Aneurysm-osteoarthritis_syndrome', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | CCATATTTGCACAATGATTATTGTTACAAACAAACATGGACCAGAGGGGCTGGAGATTGGAAAGAGCAGCCCAGATTTCACCCTGTCAGCTCTTGTTTCTTCTCCCTCCTCTTCCTCCTTGTGCCTCCCTTTACTCTGTCCCCTCTCCCTTCTTCCTTTCTTCTCATTAAGTGTGCCTGCAGGGTCCTGTTGTGAACATGAGTGATTTATCTACAGTAGAGACAGACCAGACTTGCGGACCCCAGCCAGTGTGTGGGTGGGGGCTCTCCTGTTTTAGTCTCTGTTCTTCAGAGTTGCCTGCTTGGATAGTCCAGTTGCTC... | CCATATTTGCACAATGATTATTGTTACAAACAAACATGGACCAGAGGGGCTGGAGATTGGAAAGAGCAGCCCAGATTTCACCCTGTCAGCTCTTGTTTCTTCTCCCTCCTCTTCCTCCTTGTGCCTCCCTTTACTCTGTCCCCTCTCCCTTCTTCCTTTCTTCTCATTAAGTGTGCCTGCAGGGTCCTGTTGTGAACATGAGTGATTTATCTACAGTAGAGACAGACCAGACTTGCGGACCCCAGCCAGTGTGTGGGTGGGGGCTCTCCTGTTTTAGTCTCTGTTCTTCAGAGTTGCCTGCTTGGATAGTCCAGTTGCTC... | pathogenic | 235,513 |
Variant chromosome 15, position 67181349, gene SMAD3 (SMAD family member 3): benign or pathogenic? Disease(s)? | pathogenic; ['Aneurysm-osteoarthritis_syndrome', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Loeys-Dietz_syndrome'] | CGCAGCCTTTTTTTATTGCCACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCC... | CGCAGCCTTTTTTTATTGCCACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCC... | pathogenic | 235,539 |
Does the variant on chromosome 15 at location 67184792 affecting gene SMAD3 (SMAD family member 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | ACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGA... | ACAGCCACCACTACCAGACCTGTTGTTCCCATTTCGCTTTTTGTTTTTTACTTCAAAAAAGATACTTATTCTGGGTGGCATACCACTGTTTGATTGATTGATTGATTTAGAGATAGGGTCTTGCTATGTTGCCCAGGCCCAGTCGCAAACTCTTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCTGATTAGCTGGGACAATAGGCATATACCACTGCAACTGGCTTTTTTCTATATTTTATTAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTGGAGCGGGGAGA... | pathogenic | 235,564 |
The mutation in gene SMAD3 (SMAD family member 3) at chromosome 15, position 67187440—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | TCCTGAAGGATAGGTAGGCACTAGGCACAGGGAGGGCATTCTAGACAGGGGGAGCAGCCCAGGCAAAGGGCCTGAGGTAATGGAGGGCAGGACATGGATGGGTAGCTCTCTGGCTGGAGGAGGGTCATGTATGAGACCGTCAGGGGAAATGTTTCAAAAGCACAACAGCATGAGGCCGTGGAAGGACACCAGAGAGTTTGACTCTAGGGAACTGCTGAGGGTTTTCTGAGTGAGCCTGAAAAATCCCACCTGTACCCCAAGAAGAGGTGTCAGGCTGCACCCCCGAGAGTGGTTTGGACAGGGCCACGCCTGGACAGCAA... | TCCTGAAGGATAGGTAGGCACTAGGCACAGGGAGGGCATTCTAGACAGGGGGAGCAGCCCAGGCAAAGGGCCTGAGGTAATGGAGGGCAGGACATGGATGGGTAGCTCTCTGGCTGGAGGAGGGTCATGTATGAGACCGTCAGGGGAAATGTTTCAAAAGCACAACAGCATGAGGCCGTGGAAGGACACCAGAGAGTTTGACTCTAGGGAACTGCTGAGGGTTTTCTGAGTGAGCCTGAAAAATCCCACCTGTACCCCAAGAAGAGGTGTCAGGCTGCACCCCCGAGAGTGGTTTGGACAGGGCCACGCCTGGACAGCAA... | pathogenic | 235,582 |
Gene mutation in SMAD3 (SMAD family member 3) at chromosome 15, position 67190421—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | GGTGACCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCATGCCCGGCCCTAGATACTGGTTTAAACATGGCCCTGATATAGTCAGGTCTACCTGGTCTGCTTGGTTGAATCTCTCAGGCCATCCTGCTTTGGGTTTAGAGAATCCAGTCCCTTTTCTTTCCACTCACGGACCAAAGTTTGCGGAGAGGCAGGGCTGTGTGCCCCCGCCTTCTGCTCCACACTCCCCCCTGCCAGCCGCCAGCTCCTGCGGCAGATGCAGAGGTGCCCACATGTCAGCTAGAGCCAGCGCCTTGCAAGCTACTC... | GGTGACCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCATGCCCGGCCCTAGATACTGGTTTAAACATGGCCCTGATATAGTCAGGTCTACCTGGTCTGCTTGGTTGAATCTCTCAGGCCATCCTGCTTTGGGTTTAGAGAATCCAGTCCCTTTTCTTTCCACTCACGGACCAAAGTTTGCGGAGAGGCAGGGCTGTGTGCCCCCGCCTTCTGCTCCACACTCCCCCCTGCCAGCCGCCAGCTCCTGCGGCAGATGCAGAGGTGCCCACATGTCAGCTAGAGCCAGCGCCTTGCAAGCTACTC... | pathogenic | 235,596 |
Regarding the variant at chromosome 15 and position 67190432, affecting gene SMAD3 (SMAD family member 3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | TGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCATGCCCGGCCCTAGATACTGGTTTAAACATGGCCCTGATATAGTCAGGTCTACCTGGTCTGCTTGGTTGAATCTCTCAGGCCATCCTGCTTTGGGTTTAGAGAATCCAGTCCCTTTTCTTTCCACTCACGGACCAAAGTTTGCGGAGAGGCAGGGCTGTGTGCCCCCGCCTTCTGCTCCACACTCCCCCCTGCCAGCCGCCAGCTCCTGCGGCAGATGCAGAGGTGCCCACATGTCAGCTAGAGCCAGCGCCTTGCAAGCTACTCTCCCTTTCTCT... | TGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCATGCCCGGCCCTAGATACTGGTTTAAACATGGCCCTGATATAGTCAGGTCTACCTGGTCTGCTTGGTTGAATCTCTCAGGCCATCCTGCTTTGGGTTTAGAGAATCCAGTCCCTTTTCTTTCCACTCACGGACCAAAGTTTGCGGAGAGGCAGGGCTGTGTGCCCCCGCCTTCTGCTCCACACTCCCCCCTGCCAGCCGCCAGCTCCTGCGGCAGATGCAGAGGTGCCCACATGTCAGCTAGAGCCAGCGCCTTGCAAGCTACTCTCCCTTTCTCT... | pathogenic | 235,597 |
Clinical classification of chromosome 15, position 67191114, gene SMAD3 (SMAD family member 3): benign or pathogenic? Disease(s) if pathogenic? | benign | GAGAAATGTTTTAAGCAATCTTTTAGCCCTGGCTTAGCTCATTTAGGGAACAGGAGTGAAAGGTTAGAAAATTAATCTTTTTTTAGTGAAGAAGGGAAATATTTAAAGATGGACTGCAGTGGAAAAGAGTAAGGGGATGTCCATTTGCTCTTCTTATACCAGACTGTAGTCTGGAGGGCCACACTCAGGTACCCTCGCTCGTGCAGACACCCCAGGGTCTGTCTGCAGGCCCATTTCTCAACCTCCCTGCTACACAAGCAAAGTAGAGGCCAAGCAAGGAGGGTGGTGCCTTCAAGACAGCAACACTGTTCCTGGTGTGG... | GAGAAATGTTTTAAGCAATCTTTTAGCCCTGGCTTAGCTCATTTAGGGAACAGGAGTGAAAGGTTAGAAAATTAATCTTTTTTTAGTGAAGAAGGGAAATATTTAAAGATGGACTGCAGTGGAAAAGAGTAAGGGGATGTCCATTTGCTCTTCTTATACCAGACTGTAGTCTGGAGGGCCACACTCAGGTACCCTCGCTCGTGCAGACACCCCAGGGTCTGTCTGCAGGCCCATTTCTCAACCTCCCTGCTACACAAGCAAAGTAGAGGCCAAGCAAGGAGGGTGGTGCCTTCAAGACAGCAACACTGTTCCTGGTGTGG... | benign | 235,606 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 15, position 67231875, gene AAGAB (alpha and gamma adaptin binding protein). What disease(s) is it linked to if pathogenic? | pathogenic; ['Palmoplantar_keratoderma,_punctate_type_1A'] | ACATGATTTTTCATTTTGTGTGGTTTTGTTTGTTTGTTTGAAATGGAGTCTTGCTCTGTCGCCAGACTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGACTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCATCACACCCAGCTAATTTTTGTATTTTTTTTTTTTAGCAGAGACGGGGTAGCACAATGTTGGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCACC... | ACATGATTTTTCATTTTGTGTGGTTTTGTTTGTTTGTTTGAAATGGAGTCTTGCTCTGTCGCCAGACTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGACTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCATCACACCCAGCTAATTTTTGTATTTTTTTTTTTTAGCAGAGACGGGGTAGCACAATGTTGGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCACC... | pathogenic | 235,626 |
Considering the variant on chromosome 15, location 67235972, involving gene AAGAB (alpha and gamma adaptin binding protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Palmoplantar_keratoderma,_punctate_type_1A'] | ACCTAACAGAAATATAGTGATTAAATTGAAAATACTCTGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAATTACCCAGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAATCTAGGAGGTGGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGAGAGA... | ACCTAACAGAAATATAGTGATTAAATTGAAAATACTCTGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAATTACCCAGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAATCTAGGAGGTGGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGAGAGA... | pathogenic | 235,627 |
A genetic variant on chromosome 15, position 68207979, affects the gene CLN6 (CLN6 transmembrane ER protein). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CCTGTGCCAGTTCAGTTCCCACCTTCTGAGGACTTTAAGGGTGGTGGAGGGGCCTGAGCCGGGTCTCCAGCCCCACCACAGGCTCCTCGGGGGCTTGGAGTGAGGCCTCTTAGTGCCGGTTACCCTGGCCAGGAAGGCTCCCCTTTTCTTCCTTCCCTTCCTCTCTCCACCCTCAGCCCCACCCCTTCCGCAGAAGCTGCTGACGCTCCCAAGTCTTCAGGAGTTCGTGCTGCTCCCCTCCCCCACATAGGAGGAAATGGGGGCAGGGTGTGAGGCCTCCCCAGCTTCTTCCCCTTGAGATCCCATTTCCCTGTTTGGGG... | CCTGTGCCAGTTCAGTTCCCACCTTCTGAGGACTTTAAGGGTGGTGGAGGGGCCTGAGCCGGGTCTCCAGCCCCACCACAGGCTCCTCGGGGGCTTGGAGTGAGGCCTCTTAGTGCCGGTTACCCTGGCCAGGAAGGCTCCCCTTTTCTTCCTTCCCTTCCTCTCTCCACCCTCAGCCCCACCCCTTCCGCAGAAGCTGCTGACGCTCCCAAGTCTTCAGGAGTTCGTGCTGCTCCCCTCCCCCACATAGGAGGAAATGGGGGCAGGGTGTGAGGCCTCCCCAGCTTCTTCCCCTTGAGATCCCATTTCCCTGTTTGGGG... | benign | 235,651 |
Does the chromosome 15 mutation at position 68208185 within gene CLN6 (CLN6 transmembrane ER protein) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Ceroid_lipofuscinosis,_neuronal,_6A', 'Neuronal_ceroid_lipofuscinosis'] | TCCCAAGTCTTCAGGAGTTCGTGCTGCTCCCCTCCCCCACATAGGAGGAAATGGGGGCAGGGTGTGAGGCCTCCCCAGCTTCTTCCCCTTGAGATCCCATTTCCCTGTTTGGGGCGTGAGGCTTTTGTCCACAGCTGAGTCTATGAGGCTCTACAAGTAGGTGTGGCTGCACAGGTGTGCCCTACACAAAGGCCCCCAGCCCAGGTGCGAGTGGTTGCTGGCCAGGGGCTGCACTGCCAATAGGAAGGGGGGCATTGTGCCACTTTGCACACAGGCGCATAGACGGGAGGCGCTGCCTGTGCCCCACTCTCCCCTCCCCG... | TCCCAAGTCTTCAGGAGTTCGTGCTGCTCCCCTCCCCCACATAGGAGGAAATGGGGGCAGGGTGTGAGGCCTCCCCAGCTTCTTCCCCTTGAGATCCCATTTCCCTGTTTGGGGCGTGAGGCTTTTGTCCACAGCTGAGTCTATGAGGCTCTACAAGTAGGTGTGGCTGCACAGGTGTGCCCTACACAAAGGCCCCCAGCCCAGGTGCGAGTGGTTGCTGGCCAGGGGCTGCACTGCCAATAGGAAGGGGGGCATTGTGCCACTTTGCACACAGGCGCATAGACGGGAGGCGCTGCCTGTGCCCCACTCTCCCCTCCCCG... | pathogenic | 235,655 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 15, position 68208363, gene CLN6 (CLN6 transmembrane ER protein). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ceroid_lipofuscinosis,_neuronal,_6A', 'Ceroid_lipofuscinosis,_neuronal,_6B_(Kufs_type)', 'Neuronal_ceroid_lipofuscinosis'] | GCCCTACACAAAGGCCCCCAGCCCAGGTGCGAGTGGTTGCTGGCCAGGGGCTGCACTGCCAATAGGAAGGGGGGCATTGTGCCACTTTGCACACAGGCGCATAGACGGGAGGCGCTGCCTGTGCCCCACTCTCCCCTCCCCGCTCCTTTCCTGACCGCCTCTGTGTGGAAAGTGTGCTTTTCTCCCAAATCACATCCCCAGAATCGCTTTACACCTGTTTCTAGACCCAGAGAATTTTAGCTGGGGACTCCGACTCCTCCCTGTCAGAGTTTGAGGCTCCCCCTCCCAAACCCCATGGCAGGGATAAGAGGAGGGAAGGC... | GCCCTACACAAAGGCCCCCAGCCCAGGTGCGAGTGGTTGCTGGCCAGGGGCTGCACTGCCAATAGGAAGGGGGGCATTGTGCCACTTTGCACACAGGCGCATAGACGGGAGGCGCTGCCTGTGCCCCACTCTCCCCTCCCCGCTCCTTTCCTGACCGCCTCTGTGTGGAAAGTGTGCTTTTCTCCCAAATCACATCCCCAGAATCGCTTTACACCTGTTTCTAGACCCAGAGAATTTTAGCTGGGGACTCCGACTCCTCCCTGTCAGAGTTTGAGGCTCCCCCTCCCAAACCCCATGGCAGGGATAAGAGGAGGGAAGGC... | pathogenic | 235,671 |
Does the variant on chromosome 15 at location 68211306 affecting gene CLN6 (CLN6 transmembrane ER protein) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Ceroid_lipofuscinosis,_neuronal,_6A', 'Ceroid_lipofuscinosis,_neuronal,_6B_(Kufs_type)', 'Neuronal_ceroid_lipofuscinosis'] | CCATCATCCCCACTTCACAGAGGTGGAAACCGCAGCCCACTACAGGGCTTGGTGTCGGAGGTGGATTGTACCGGCCCCAGGGCAACACTGGGGTTCTTGAGATGGGGCACAGAGCGAGAGGGGCTTGAGGATGGAGACAGACTGTGCAACCTCGCCCTCTCCTCCCACCTCCCTGCCACACCCAGGCCTGGGCTTCATGGAAACAAAGAGGCCACCACAGGGCATTGTCACAGTCCCCACTAGACACAAGAAGAAGCACGGGCCCAAAGAGGGCCAGTCTCCCTGGGGCCACACAGCAGGTCCATTGGCAAGTGCAGAAT... | CCATCATCCCCACTTCACAGAGGTGGAAACCGCAGCCCACTACAGGGCTTGGTGTCGGAGGTGGATTGTACCGGCCCCAGGGCAACACTGGGGTTCTTGAGATGGGGCACAGAGCGAGAGGGGCTTGAGGATGGAGACAGACTGTGCAACCTCGCCCTCTCCTCCCACCTCCCTGCCACACCCAGGCCTGGGCTTCATGGAAACAAAGAGGCCACCACAGGGCATTGTCACAGTCCCCACTAGACACAAGAAGAAGCACGGGCCCAAAGAGGGCCAGTCTCCCTGGGGCCACACAGCAGGTCCATTGGCAAGTGCAGAAT... | pathogenic | 235,681 |
Gene mutation in CLN6 (CLN6 transmembrane ER protein) at chromosome 15, position 68211697—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ceroid_lipofuscinosis,_neuronal,_6A', 'Ceroid_lipofuscinosis,_neuronal,_6B_(Kufs_type)', 'Neuronal_ceroid_lipofuscinosis'] | CCACTGGGTGCCACCAGGAGCAGGGCAGGCCCTGGAATCAAGCTCTCAGCTTTAGAGGCAGTAAAGCAGCCGCTGAAGTACATGAAGAGGATGAGGAAGAAGGGGATGTACCTGTGACAGGAAGGCCAGTGTCTTAGAGGCCTGCTCAGCGGCCCTCTTCCCCACAACCTCTGCAACCACTCCCATGGGGTCTCATGGAGTGCCACGTCACAGTTTACAAAACGCCTAGCCTGGGTGAGAGGCGCTCCTCTCCACCCAACCTTGCCTGTGCTGGGCGTCAAAGGTGGGACAGAAACAGAAACAGGAAGGCAACGCACGTG... | CCACTGGGTGCCACCAGGAGCAGGGCAGGCCCTGGAATCAAGCTCTCAGCTTTAGAGGCAGTAAAGCAGCCGCTGAAGTACATGAAGAGGATGAGGAAGAAGGGGATGTACCTGTGACAGGAAGGCCAGTGTCTTAGAGGCCTGCTCAGCGGCCCTCTTCCCCACAACCTCTGCAACCACTCCCATGGGGTCTCATGGAGTGCCACGTCACAGTTTACAAAACGCCTAGCCTGGGTGAGAGGCGCTCCTCTCCACCCAACCTTGCCTGTGCTGGGCGTCAAAGGTGGGACAGAAACAGAAACAGGAAGGCAACGCACGTG... | pathogenic | 235,690 |
Determine whether the variant at chromosome 15, position 68211762, in gene CLN6 (CLN6 transmembrane ER protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis'] | GCAGCCGCTGAAGTACATGAAGAGGATGAGGAAGAAGGGGATGTACCTGTGACAGGAAGGCCAGTGTCTTAGAGGCCTGCTCAGCGGCCCTCTTCCCCACAACCTCTGCAACCACTCCCATGGGGTCTCATGGAGTGCCACGTCACAGTTTACAAAACGCCTAGCCTGGGTGAGAGGCGCTCCTCTCCACCCAACCTTGCCTGTGCTGGGCGTCAAAGGTGGGACAGAAACAGAAACAGGAAGGCAACGCACGTGTGAGTCAGAGGCCCAGAGGCATCCACACCGCCCAGGGCACCTCACTCACTCCGTGGGGGTAAGGG... | GCAGCCGCTGAAGTACATGAAGAGGATGAGGAAGAAGGGGATGTACCTGTGACAGGAAGGCCAGTGTCTTAGAGGCCTGCTCAGCGGCCCTCTTCCCCACAACCTCTGCAACCACTCCCATGGGGTCTCATGGAGTGCCACGTCACAGTTTACAAAACGCCTAGCCTGGGTGAGAGGCGCTCCTCTCCACCCAACCTTGCCTGTGCTGGGCGTCAAAGGTGGGACAGAAACAGAAACAGGAAGGCAACGCACGTGTGAGTCAGAGGCCCAGAGGCATCCACACCGCCCAGGGCACCTCACTCACTCCGTGGGGGTAAGGG... | pathogenic | 235,693 |
Does the variant impacting CLN6 (CLN6 transmembrane ER protein) on chromosome 15, position 68211764, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Abnormality_of_the_nervous_system', 'Ceroid_lipofuscinosis,_neuronal,_6A', 'Ceroid_lipofuscinosis,_neuronal,_6B_(Kufs_type)', 'Neuronal_ceroid_lipofuscinosis'] | AGCCGCTGAAGTACATGAAGAGGATGAGGAAGAAGGGGATGTACCTGTGACAGGAAGGCCAGTGTCTTAGAGGCCTGCTCAGCGGCCCTCTTCCCCACAACCTCTGCAACCACTCCCATGGGGTCTCATGGAGTGCCACGTCACAGTTTACAAAACGCCTAGCCTGGGTGAGAGGCGCTCCTCTCCACCCAACCTTGCCTGTGCTGGGCGTCAAAGGTGGGACAGAAACAGAAACAGGAAGGCAACGCACGTGTGAGTCAGAGGCCCAGAGGCATCCACACCGCCCAGGGCACCTCACTCACTCCGTGGGGGTAAGGGGT... | AGCCGCTGAAGTACATGAAGAGGATGAGGAAGAAGGGGATGTACCTGTGACAGGAAGGCCAGTGTCTTAGAGGCCTGCTCAGCGGCCCTCTTCCCCACAACCTCTGCAACCACTCCCATGGGGTCTCATGGAGTGCCACGTCACAGTTTACAAAACGCCTAGCCTGGGTGAGAGGCGCTCCTCTCCACCCAACCTTGCCTGTGCTGGGCGTCAAAGGTGGGACAGAAACAGAAACAGGAAGGCAACGCACGTGTGAGTCAGAGGCCCAGAGGCATCCACACCGCCCAGGGCACCTCACTCACTCCGTGGGGGTAAGGGGT... | pathogenic | 235,694 |
Clinical classification of chromosome 15, position 68211764, gene CLN6 (CLN6 transmembrane ER protein): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Ceroid_lipofuscinosis,_neuronal,_6A', 'Ceroid_lipofuscinosis,_neuronal,_6B_(Kufs_type)', 'Neuronal_ceroid_lipofuscinosis'] | AGCCGCTGAAGTACATGAAGAGGATGAGGAAGAAGGGGATGTACCTGTGACAGGAAGGCCAGTGTCTTAGAGGCCTGCTCAGCGGCCCTCTTCCCCACAACCTCTGCAACCACTCCCATGGGGTCTCATGGAGTGCCACGTCACAGTTTACAAAACGCCTAGCCTGGGTGAGAGGCGCTCCTCTCCACCCAACCTTGCCTGTGCTGGGCGTCAAAGGTGGGACAGAAACAGAAACAGGAAGGCAACGCACGTGTGAGTCAGAGGCCCAGAGGCATCCACACCGCCCAGGGCACCTCACTCACTCCGTGGGGGTAAGGGGT... | AGCCGCTGAAGTACATGAAGAGGATGAGGAAGAAGGGGATGTACCTGTGACAGGAAGGCCAGTGTCTTAGAGGCCTGCTCAGCGGCCCTCTTCCCCACAACCTCTGCAACCACTCCCATGGGGTCTCATGGAGTGCCACGTCACAGTTTACAAAACGCCTAGCCTGGGTGAGAGGCGCTCCTCTCCACCCAACCTTGCCTGTGCTGGGCGTCAAAGGTGGGACAGAAACAGAAACAGGAAGGCAACGCACGTGTGAGTCAGAGGCCCAGAGGCATCCACACCGCCCAGGGCACCTCACTCACTCCGTGGGGGTAAGGGGT... | pathogenic | 235,695 |
Mutation at chromosome 15, position 68211794, within CLN6 (CLN6 transmembrane ER protein): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ceroid_lipofuscinosis,_neuronal,_6A', 'Ceroid_lipofuscinosis,_neuronal,_6B_(Kufs_type)', 'Neuronal_ceroid_lipofuscinosis'] | AGAAGGGGATGTACCTGTGACAGGAAGGCCAGTGTCTTAGAGGCCTGCTCAGCGGCCCTCTTCCCCACAACCTCTGCAACCACTCCCATGGGGTCTCATGGAGTGCCACGTCACAGTTTACAAAACGCCTAGCCTGGGTGAGAGGCGCTCCTCTCCACCCAACCTTGCCTGTGCTGGGCGTCAAAGGTGGGACAGAAACAGAAACAGGAAGGCAACGCACGTGTGAGTCAGAGGCCCAGAGGCATCCACACCGCCCAGGGCACCTCACTCACTCCGTGGGGGTAAGGGGTGTCTGGGGGGTTGTCTGTCTCATGCACCGC... | AGAAGGGGATGTACCTGTGACAGGAAGGCCAGTGTCTTAGAGGCCTGCTCAGCGGCCCTCTTCCCCACAACCTCTGCAACCACTCCCATGGGGTCTCATGGAGTGCCACGTCACAGTTTACAAAACGCCTAGCCTGGGTGAGAGGCGCTCCTCTCCACCCAACCTTGCCTGTGCTGGGCGTCAAAGGTGGGACAGAAACAGAAACAGGAAGGCAACGCACGTGTGAGTCAGAGGCCCAGAGGCATCCACACCGCCCAGGGCACCTCACTCACTCCGTGGGGGTAAGGGGTGTCTGGGGGGTTGTCTGTCTCATGCACCGC... | pathogenic | 235,696 |
A genetic alteration at chromosome 15, position 68211844, in gene CLN6 (CLN6 transmembrane ER protein)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Ceroid_lipofuscinosis,_neuronal,_6A', 'Ceroid_lipofuscinosis,_neuronal,_6B_(Kufs_type)', 'Neuronal_ceroid_lipofuscinosis'] | AGCGGCCCTCTTCCCCACAACCTCTGCAACCACTCCCATGGGGTCTCATGGAGTGCCACGTCACAGTTTACAAAACGCCTAGCCTGGGTGAGAGGCGCTCCTCTCCACCCAACCTTGCCTGTGCTGGGCGTCAAAGGTGGGACAGAAACAGAAACAGGAAGGCAACGCACGTGTGAGTCAGAGGCCCAGAGGCATCCACACCGCCCAGGGCACCTCACTCACTCCGTGGGGGTAAGGGGTGTCTGGGGGGTTGTCTGTCTCATGCACCGCAGACACCAGCAGCCCAGCACCACACTAGCCTGGAGACAGAGGCACCTCCC... | AGCGGCCCTCTTCCCCACAACCTCTGCAACCACTCCCATGGGGTCTCATGGAGTGCCACGTCACAGTTTACAAAACGCCTAGCCTGGGTGAGAGGCGCTCCTCTCCACCCAACCTTGCCTGTGCTGGGCGTCAAAGGTGGGACAGAAACAGAAACAGGAAGGCAACGCACGTGTGAGTCAGAGGCCCAGAGGCATCCACACCGCCCAGGGCACCTCACTCACTCCGTGGGGGTAAGGGGTGTCTGGGGGGTTGTCTGTCTCATGCACCGCAGACACCAGCAGCCCAGCACCACACTAGCCTGGAGACAGAGGCACCTCCC... | pathogenic | 235,698 |
Is the variant located on chromosome 15 at position 68214270, gene CLN6 (CLN6 transmembrane ER protein), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CCTGGGTGGCTGGCCCAGCCTGCTGAAGGCACCTTCTGATTTCTGAGTGGTCCCAGCAAACATGAAGAAAATGTCAGGGATGGGGGCAGGTGCTTCTGAAATGCCACTGTTTAACTGAAAACACACCGGAGTTCTGGGATTATACCCCTCCTACTTCTGGAGATTTGAAGTATCTTTCTTCAATACAAAATGATGGTGATAGTAAATGGTGATACAGGCTGAGCATCCCTTATCTGAAATGTTTCAAATTTCAGATTTTGGAATATTTGCATATACACAATGAGATATCTTGGGAATGCATATGCAAGTCTAAACATGAA... | CCTGGGTGGCTGGCCCAGCCTGCTGAAGGCACCTTCTGATTTCTGAGTGGTCCCAGCAAACATGAAGAAAATGTCAGGGATGGGGGCAGGTGCTTCTGAAATGCCACTGTTTAACTGAAAACACACCGGAGTTCTGGGATTATACCCCTCCTACTTCTGGAGATTTGAAGTATCTTTCTTCAATACAAAATGATGGTGATAGTAAATGGTGATACAGGCTGAGCATCCCTTATCTGAAATGTTTCAAATTTCAGATTTTGGAATATTTGCATATACACAATGAGATATCTTGGGAATGCATATGCAAGTCTAAACATGAA... | benign | 235,702 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 15, position 68218538, gene CLN6 (CLN6 transmembrane ER protein). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ceroid_lipofuscinosis,_neuronal,_6A', 'Ceroid_lipofuscinosis,_neuronal,_6B_(Kufs_type)'] | TGCCAGGACAGCTTTTCTTTACACCTATCAAGTCTTTGATCCCAGGTAGACAAGCTCGTTATTGACTTGCAATTAGTCAGTCTGCATGTCATTTAGGAACCTTTTTTCTCCTTAAATATTCCAGGTTGCTCTATAGTATCCATAATTTCTGCTTAATTGCCAGGAAACATTCTCTATAATGGACATAGCAAAACTGATTTACCCAGTCCCTAATGCTGGACACGCAAGTCACTTCTAAGGTTTGGCTATCATAAACACCACTGCAATGAACATCTTTGAGTTAGAGGAAACTGCTGTCTTCTTGCTGATTATATCCCTAC... | TGCCAGGACAGCTTTTCTTTACACCTATCAAGTCTTTGATCCCAGGTAGACAAGCTCGTTATTGACTTGCAATTAGTCAGTCTGCATGTCATTTAGGAACCTTTTTTCTCCTTAAATATTCCAGGTTGCTCTATAGTATCCATAATTTCTGCTTAATTGCCAGGAAACATTCTCTATAATGGACATAGCAAAACTGATTTACCCAGTCCCTAATGCTGGACACGCAAGTCACTTCTAAGGTTTGGCTATCATAAACACCACTGCAATGAACATCTTTGAGTTAGAGGAAACTGCTGTCTTCTTGCTGATTATATCCCTAC... | pathogenic | 235,711 |
Clinical classification of chromosome 15, position 68229484, gene CLN6 (CLN6 transmembrane ER protein): benign or pathogenic? Disease(s) if pathogenic? | benign | AGCAGAGGAAATCCAAGCATCCTAGGAACTGGACAGGATGATTCTGCCTACTCTCTTGAGCAGCAATGATACTGGGAATGGGCTGAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCT... | AGCAGAGGAAATCCAAGCATCCTAGGAACTGGACAGGATGATTCTGCCTACTCTCTTGAGCAGCAATGATACTGGGAATGGGCTGAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCT... | benign | 235,724 |
Mutation found at chromosome 15 position 68229752, gene CLN6 (CLN6 transmembrane ER protein): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTG... | TGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGAGACCCACAGGCTGTTCCCATTGGGCTGTCACAGTTCAGGGCAGTCAGTGACCCCCAACTTGGCAAGGATTCGGAACAGAGACATCCCGCAGGCAGAAGAGGCTGCCTGGAAGAGGGGAGCTGGTAAATGGGTTGGGTCACAGCAGAGATGAAACCACTGGACACGGCGTG... | benign | 235,734 |
Gene mutation in THSD4 (thrombospondin type 1 domain containing 4) at chromosome 15, position 71771123—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGCGGGGGGTCAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC... | CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGCGGGGGGTCAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC... | benign | 235,778 |
Variant at chromosome 15, position 71811507, gene NR2E3 (nuclear receptor subfamily 2 group E member 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Enhanced_S-cone_syndrome', 'Goldmann-Favre_syndrome', 'Retinitis_pigmentosa_37'] | AGCAGAGGCATCGCTGGGCTGGAGGTGGGAAGGATGGACCTGGGAGCAGCGCAGGGGGCTGGTGTGGCAAGAGGCAGGCGGAGCTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGC... | AGCAGAGGCATCGCTGGGCTGGAGGTGGGAAGGATGGACCTGGGAGCAGCGCAGGGGGCTGGTGTGGCAAGAGGCAGGCGGAGCTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGC... | pathogenic | 235,789 |
A genetic alteration at chromosome 15, position 71811552, in gene NR2E3 (nuclear receptor subfamily 2 group E member 3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Enhanced_S-cone_syndrome', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_37'] | GCAGCGCAGGGGGCTGGTGTGGCAAGAGGCAGGCGGAGCTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCA... | GCAGCGCAGGGGGCTGGTGTGGCAAGAGGCAGGCGGAGCTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCA... | pathogenic | 235,793 |
Variant in gene NR2E3 (nuclear receptor subfamily 2 group E member 3), located at chromosome 15 position 71811586: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Enhanced_S-cone_syndrome'] | GGAGCTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGA... | GGAGCTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGA... | pathogenic | 235,795 |
Variant chromosome 15, position 71811604, gene NR2E3 (nuclear receptor subfamily 2 group E member 3): benign or pathogenic? Disease(s)? | pathogenic; ['Enhanced_S-cone_syndrome'] | TCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGT... | TCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGT... | pathogenic | 235,798 |
Variant on chromosome 15, at position 71811815, affecting NR2E3 (nuclear receptor subfamily 2 group E member 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Enhanced_S-cone_syndrome', 'Retinitis_pigmentosa_37'] | CGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTC... | CGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTC... | pathogenic | 235,803 |
A genetic variant at chromosome 15, position 71811852, affecting gene NR2E3 (nuclear receptor subfamily 2 group E member 3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Enhanced_S-cone_syndrome'] | CTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCT... | CTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCT... | pathogenic | 235,808 |
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