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 |
|---|---|---|---|---|---|
Regarding the variant at chromosome 13 and position 100257601, affecting gene PCCA (propionyl-CoA carboxylase subunit alpha): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Propionic_acidemia'] | GATGATGCATTGATAAAATATTTTTTTGAGAGGATGGGGGTAAGGATCTATTAAGTTGTTGTAAACAGGGTTTTGCAGGTATACCAGTTTCAAATTTTTAGATTGCGCTTTTTCACTCCCGTAAAACAGGCTAATTCTTCTCTACTGATTTCATTCTGATTATTTTATGCTTGTTATTGTGAATGAGACAAATACCATTCTTGCCATTCTCATGCAGGATTAAAACTCGTGCATAATCTCTTGCAGAATCAAGAATCAAAGCATGCACAATCTTCTATGCTTTGTCCCCATCTATGTTTTCTATTGTGTTTTCCCCTACC... | GATGATGCATTGATAAAATATTTTTTTGAGAGGATGGGGGTAAGGATCTATTAAGTTGTTGTAAACAGGGTTTTGCAGGTATACCAGTTTCAAATTTTTAGATTGCGCTTTTTCACTCCCGTAAAACAGGCTAATTCTTCTCTACTGATTTCATTCTGATTATTTTATGCTTGTTATTGTGAATGAGACAAATACCATTCTTGCCATTCTCATGCAGGATTAAAACTCGTGCATAATCTCTTGCAGAATCAAGAATCAAAGCATGCACAATCTTCTATGCTTTGTCCCCATCTATGTTTTCTATTGTGTTTTCCCCTACC... | pathogenic | 216,509 |
Is the genetic variant on chromosome 13, position 100257628, gene PCCA (propionyl-CoA carboxylase subunit alpha), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Propionic_acidemia'] | GAGAGGATGGGGGTAAGGATCTATTAAGTTGTTGTAAACAGGGTTTTGCAGGTATACCAGTTTCAAATTTTTAGATTGCGCTTTTTCACTCCCGTAAAACAGGCTAATTCTTCTCTACTGATTTCATTCTGATTATTTTATGCTTGTTATTGTGAATGAGACAAATACCATTCTTGCCATTCTCATGCAGGATTAAAACTCGTGCATAATCTCTTGCAGAATCAAGAATCAAAGCATGCACAATCTTCTATGCTTTGTCCCCATCTATGTTTTCTATTGTGTTTTCCCCTACCATCCTGCAGATAACTCTGTACTTCAAC... | GAGAGGATGGGGGTAAGGATCTATTAAGTTGTTGTAAACAGGGTTTTGCAGGTATACCAGTTTCAAATTTTTAGATTGCGCTTTTTCACTCCCGTAAAACAGGCTAATTCTTCTCTACTGATTTCATTCTGATTATTTTATGCTTGTTATTGTGAATGAGACAAATACCATTCTTGCCATTCTCATGCAGGATTAAAACTCGTGCATAATCTCTTGCAGAATCAAGAATCAAAGCATGCACAATCTTCTATGCTTTGTCCCCATCTATGTTTTCTATTGTGTTTTCCCCTACCATCCTGCAGATAACTCTGTACTTCAAC... | pathogenic | 216,512 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 100262732, gene PCCA (propionyl-CoA carboxylase subunit alpha). What disease(s) is it linked to if pathogenic? | pathogenic; ['Propionic_acidemia'] | ACTGCACTTGGCCACAAATTAGTTGTTTCCAATATTACTAGGTGGACTGTAGGATTAAATGATATTATTTTAAAGTTGTAATAATTAAAACGCATCTTAAGTGTACCAACCTGGATTACTATATGACAAGGATTATCATTAAATTTTTCTATTAGTAGTCTGTCATCGCCAAAACTAGAAGCAGCTTTTGAGATGAAAAACCATCCTTTAAAAAAAAAAAAAAGGAAGAACGGTCAGACTAACAAAACAAATAGAGCAATAGGGCTGACATCATTAAAGAAAACACAAAACAAGCAAATCAGATAGTTGTTTTTTATATT... | ACTGCACTTGGCCACAAATTAGTTGTTTCCAATATTACTAGGTGGACTGTAGGATTAAATGATATTATTTTAAAGTTGTAATAATTAAAACGCATCTTAAGTGTACCAACCTGGATTACTATATGACAAGGATTATCATTAAATTTTTCTATTAGTAGTCTGTCATCGCCAAAACTAGAAGCAGCTTTTGAGATGAAAAACCATCCTTTAAAAAAAAAAAAAAGGAAGAACGGTCAGACTAACAAAACAAATAGAGCAATAGGGCTGACATCATTAAAGAAAACACAAAACAAGCAAATCAGATAGTTGTTTTTTATATT... | pathogenic | 216,516 |
Classify the chromosome 13 variant at position 100262786 affecting gene PCCA (propionyl-CoA carboxylase subunit alpha) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Propionic_acidemia'] | TTAAATGATATTATTTTAAAGTTGTAATAATTAAAACGCATCTTAAGTGTACCAACCTGGATTACTATATGACAAGGATTATCATTAAATTTTTCTATTAGTAGTCTGTCATCGCCAAAACTAGAAGCAGCTTTTGAGATGAAAAACCATCCTTTAAAAAAAAAAAAAAGGAAGAACGGTCAGACTAACAAAACAAATAGAGCAATAGGGCTGACATCATTAAAGAAAACACAAAACAAGCAAATCAGATAGTTGTTTTTTATATTACTAGATGGACCATTTGCAACTTAAAGGACTGGAAGAATTTGGTTTCAGTATTG... | TTAAATGATATTATTTTAAAGTTGTAATAATTAAAACGCATCTTAAGTGTACCAACCTGGATTACTATATGACAAGGATTATCATTAAATTTTTCTATTAGTAGTCTGTCATCGCCAAAACTAGAAGCAGCTTTTGAGATGAAAAACCATCCTTTAAAAAAAAAAAAAAGGAAGAACGGTCAGACTAACAAAACAAATAGAGCAATAGGGCTGACATCATTAAAGAAAACACAAAACAAGCAAATCAGATAGTTGTTTTTTATATTACTAGATGGACCATTTGCAACTTAAAGGACTGGAAGAATTTGGTTTCAGTATTG... | pathogenic | 216,518 |
Gene PCCA (propionyl-CoA carboxylase subunit alpha) variant at chromosome position 100268711 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Propionic_acidemia'] | TTTTCACATGAGCCATTATATACTATGTCCTTTCCACAATGAAACTGCACTGGTAGTGTGAATGGCACCTCTCTTTGTGGCATAAACCAGTATTTCTCAACCAGGGCACTACTGGCATTTCCTGGGTTGGGTCTAGGGATACCAACAGGCTTGCATTATGTGACATTGTCTATTATAATAAAGCTTTTTCAGGAAGCAGTATAGCTTAGAGATTTTTCTACATTCAGTACGTGTAAACCTATAAAATTTTTAAAAAACTCATGATGCATTTAAGGATTAACTTCCCTTAAAAGCAGTATTTATTTATAATGTTTTCTGAT... | TTTTCACATGAGCCATTATATACTATGTCCTTTCCACAATGAAACTGCACTGGTAGTGTGAATGGCACCTCTCTTTGTGGCATAAACCAGTATTTCTCAACCAGGGCACTACTGGCATTTCCTGGGTTGGGTCTAGGGATACCAACAGGCTTGCATTATGTGACATTGTCTATTATAATAAAGCTTTTTCAGGAAGCAGTATAGCTTAGAGATTTTTCTACATTCAGTACGTGTAAACCTATAAAATTTTTAAAAAACTCATGATGCATTTAAGGATTAACTTCCCTTAAAAGCAGTATTTATTTATAATGTTTTCTGAT... | pathogenic | 216,521 |
Classify the chromosome 13 variant at position 100268730 affecting gene PCCA (propionyl-CoA carboxylase subunit alpha) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'PCCA-related_disorder', 'Propionic_acidemia'] | ATACTATGTCCTTTCCACAATGAAACTGCACTGGTAGTGTGAATGGCACCTCTCTTTGTGGCATAAACCAGTATTTCTCAACCAGGGCACTACTGGCATTTCCTGGGTTGGGTCTAGGGATACCAACAGGCTTGCATTATGTGACATTGTCTATTATAATAAAGCTTTTTCAGGAAGCAGTATAGCTTAGAGATTTTTCTACATTCAGTACGTGTAAACCTATAAAATTTTTAAAAAACTCATGATGCATTTAAGGATTAACTTCCCTTAAAAGCAGTATTTATTTATAATGTTTTCTGATTACATGGCTTCCTCATTTA... | ATACTATGTCCTTTCCACAATGAAACTGCACTGGTAGTGTGAATGGCACCTCTCTTTGTGGCATAAACCAGTATTTCTCAACCAGGGCACTACTGGCATTTCCTGGGTTGGGTCTAGGGATACCAACAGGCTTGCATTATGTGACATTGTCTATTATAATAAAGCTTTTTCAGGAAGCAGTATAGCTTAGAGATTTTTCTACATTCAGTACGTGTAAACCTATAAAATTTTTAAAAAACTCATGATGCATTTAAGGATTAACTTCCCTTAAAAGCAGTATTTATTTATAATGTTTTCTGATTACATGGCTTCCTCATTTA... | pathogenic | 216,522 |
Variant in PCCA (propionyl-CoA carboxylase subunit alpha), chromosome 13, position 100273197—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['PCCA-related_disorder', 'Propionic_acidemia'] | TAGTTTCACAGAGCTGCACTGAGATTCTCCAGATGTTATGCTATTAATTGTTAGTTGGGGTTTTTTTTAGTTGCATTAATTTTGTCAGCCAGTTATTGTTGAAATGTCATCTATGTCTATACATTAGGTTAATGCAAACTATATTATAGATAATTCATAACACTTGAACCCATTGATTTATTGTAACTTCACCAAAAGGGAGACAGTAGGAAGTACACTTCCCACCTGTGAACTCTTCCCCCTCCCCCACCCCAATCCAACTTGAATATATTCAAGGCTCTGAGTCTAACTAGCAATCTATATGAAATAGAAATGTAATA... | TAGTTTCACAGAGCTGCACTGAGATTCTCCAGATGTTATGCTATTAATTGTTAGTTGGGGTTTTTTTTAGTTGCATTAATTTTGTCAGCCAGTTATTGTTGAAATGTCATCTATGTCTATACATTAGGTTAATGCAAACTATATTATAGATAATTCATAACACTTGAACCCATTGATTTATTGTAACTTCACCAAAAGGGAGACAGTAGGAAGTACACTTCCCACCTGTGAACTCTTCCCCCTCCCCCACCCCAATCCAACTTGAATATATTCAAGGCTCTGAGTCTAACTAGCAATCTATATGAAATAGAAATGTAATA... | pathogenic | 216,530 |
Clinical significance of chromosome 13, position 100273303, gene PCCA (propionyl-CoA carboxylase subunit alpha): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Propionic_acidemia'] | TCATCTATGTCTATACATTAGGTTAATGCAAACTATATTATAGATAATTCATAACACTTGAACCCATTGATTTATTGTAACTTCACCAAAAGGGAGACAGTAGGAAGTACACTTCCCACCTGTGAACTCTTCCCCCTCCCCCACCCCAATCCAACTTGAATATATTCAAGGCTCTGAGTCTAACTAGCAATCTATATGAAATAGAAATGTAATATGAATGTTAAAAGACACCGTGGGGTTGCATGCAGTTGAACCAAGAATGTGAGAAATAAGACAGTAAAATGACCAGATCCTTGGCCAGAAAATGGGGAAGGGGCATT... | TCATCTATGTCTATACATTAGGTTAATGCAAACTATATTATAGATAATTCATAACACTTGAACCCATTGATTTATTGTAACTTCACCAAAAGGGAGACAGTAGGAAGTACACTTCCCACCTGTGAACTCTTCCCCCTCCCCCACCCCAATCCAACTTGAATATATTCAAGGCTCTGAGTCTAACTAGCAATCTATATGAAATAGAAATGTAATATGAATGTTAAAAGACACCGTGGGGTTGCATGCAGTTGAACCAAGAATGTGAGAAATAAGACAGTAAAATGACCAGATCCTTGGCCAGAAAATGGGGAAGGGGCATT... | pathogenic | 216,534 |
Is chromosome 13, position 100301488, gene PCCA (propionyl-CoA carboxylase subunit alpha) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Propionic_acidemia'] | TATACATTACTGTCAGGAAGATCAGGAAGATAATGTCATCTCTTTAGTGAGATAAATTCCAACTCCATCGTGACCACTTACCATAGATGTGACTCTGTATTTGCTGTTCATTCATTCAATATGTATTTATTTGCCTTGTATATAGTATGTACTTATATGGGCACTGGTCATAGAAAGAGGAAACTGAATGGTTCACTTAACTTTTGAAATTGTCTTTTCACCTATCAGGGATGTGTGAATAGTATTGATGTAAAGCACTTGGCACGTGGTAGGTTCACCTCTTTTTTTTTTCCTGAGATGGAATATCGCTCTGTTGCCCA... | TATACATTACTGTCAGGAAGATCAGGAAGATAATGTCATCTCTTTAGTGAGATAAATTCCAACTCCATCGTGACCACTTACCATAGATGTGACTCTGTATTTGCTGTTCATTCATTCAATATGTATTTATTTGCCTTGTATATAGTATGTACTTATATGGGCACTGGTCATAGAAAGAGGAAACTGAATGGTTCACTTAACTTTTGAAATTGTCTTTTCACCTATCAGGGATGTGTGAATAGTATTGATGTAAAGCACTTGGCACGTGGTAGGTTCACCTCTTTTTTTTTTCCTGAGATGGAATATCGCTCTGTTGCCCA... | pathogenic | 216,536 |
Evaluate this variant at chromosome 13, position 100301581, gene PCCA (propionyl-CoA carboxylase subunit alpha): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Propionic_acidemia'] | TCTGTATTTGCTGTTCATTCATTCAATATGTATTTATTTGCCTTGTATATAGTATGTACTTATATGGGCACTGGTCATAGAAAGAGGAAACTGAATGGTTCACTTAACTTTTGAAATTGTCTTTTCACCTATCAGGGATGTGTGAATAGTATTGATGTAAAGCACTTGGCACGTGGTAGGTTCACCTCTTTTTTTTTTCCTGAGATGGAATATCGCTCTGTTGCCCAGACTGGAGTACAGTGGTGCAATCTCGGCTCACTACAGCCTTCTCCTGGGTTCCAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGACTA... | TCTGTATTTGCTGTTCATTCATTCAATATGTATTTATTTGCCTTGTATATAGTATGTACTTATATGGGCACTGGTCATAGAAAGAGGAAACTGAATGGTTCACTTAACTTTTGAAATTGTCTTTTCACCTATCAGGGATGTGTGAATAGTATTGATGTAAAGCACTTGGCACGTGGTAGGTTCACCTCTTTTTTTTTTCCTGAGATGGAATATCGCTCTGTTGCCCAGACTGGAGTACAGTGGTGCAATCTCGGCTCACTACAGCCTTCTCCTGGGTTCCAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGACTA... | pathogenic | 216,540 |
The mutation in gene PCCA (propionyl-CoA carboxylase subunit alpha) at chromosome 13, position 100302980—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Propionic_acidemia'] | AAGGATCCATCTGCTCCCTTCTGCTACACTGCCTCGATGCAAGATTACACTAATCTGGCTGCTTGTCAGGACAGGTTAGTGAAAGCATGCAAGTGGGTGAGACTTAGGGTGGACTAGTGCTTTGGAAAATCATAAGCTGCCCCTGTAGATGCCACGTTAAGTGCAGCAGAATAGGTTGATTATCGGCCACATTGAAGATTGCCGTGAAATAAATATATAGCTTTTTGGTTAAGAATTAGTTTCAAAATTAAAATTCTTAAATATTGTTGGACCACAGATAAATCAAAATTGAGAAAAATAATACAGATAGTTTACAAATA... | AAGGATCCATCTGCTCCCTTCTGCTACACTGCCTCGATGCAAGATTACACTAATCTGGCTGCTTGTCAGGACAGGTTAGTGAAAGCATGCAAGTGGGTGAGACTTAGGGTGGACTAGTGCTTTGGAAAATCATAAGCTGCCCCTGTAGATGCCACGTTAAGTGCAGCAGAATAGGTTGATTATCGGCCACATTGAAGATTGCCGTGAAATAAATATATAGCTTTTTGGTTAAGAATTAGTTTCAAAATTAAAATTCTTAAATATTGTTGGACCACAGATAAATCAAAATTGAGAAAAATAATACAGATAGTTTACAAATA... | pathogenic | 216,546 |
Variant on chromosome 13, at position 100307164, affecting PCCA (propionyl-CoA carboxylase subunit alpha): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AAAGCAGCATAAATAGTAAATTATAAAGCAGAGTTTTCATACTGTGGTACAGTTTTTAATTGGGAATACTGATTTGCTTATACAAAGATACGTGTTTATATATATCTTGATTTTATCGTATGTATTTTAAAGTTAAGATGACATAACTTCTGTGATCATAATATTAGTAAATAACAAAGACAGTTATATTTAATTAAGATCTGTAGGTAACACCTTATAGGATGATATTATTCAAGGCAACTGAAGTTTTAAGTAAGGAACTGTAGAAGAACATAATAAATATTCTTTATTGTCTATGTTATTTTATTTGTGGGTTGAAC... | AAAGCAGCATAAATAGTAAATTATAAAGCAGAGTTTTCATACTGTGGTACAGTTTTTAATTGGGAATACTGATTTGCTTATACAAAGATACGTGTTTATATATATCTTGATTTTATCGTATGTATTTTAAAGTTAAGATGACATAACTTCTGTGATCATAATATTAGTAAATAACAAAGACAGTTATATTTAATTAAGATCTGTAGGTAACACCTTATAGGATGATATTATTCAAGGCAACTGAAGTTTTAAGTAAGGAACTGTAGAAGAACATAATAAATATTCTTTATTGTCTATGTTATTTTATTTGTGGGTTGAAC... | benign | 216,550 |
Does the variant on chromosome 13 at location 100309840 affecting gene PCCA (propionyl-CoA carboxylase subunit alpha) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Propionic_acidemia'] | TTTAAACCCTTAAAACCGTATAAAGTGTAAAATGCTGTAATAATTAAGATTGTGGATTTTATTTTTATTTTATTATTATTTTTTTGAGATGGAGTCTCGCTCTGTCCGCCAGCCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGTGGCTCGTGCCACCAAGCCCAGCTAATTTTTTTTGTTTTTAGTAGAGATGGGGTTTCACCTTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC... | TTTAAACCCTTAAAACCGTATAAAGTGTAAAATGCTGTAATAATTAAGATTGTGGATTTTATTTTTATTTTATTATTATTTTTTTGAGATGGAGTCTCGCTCTGTCCGCCAGCCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGTGGCTCGTGCCACCAAGCCCAGCTAATTTTTTTTGTTTTTAGTAGAGATGGGGTTTCACCTTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC... | pathogenic | 216,555 |
Evaluate if the mutation on chromosome 13 at position 100330607 in PCCA (propionyl-CoA carboxylase subunit alpha) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Propionic_acidemia'] | AGAATCCGTTGCCTACCTTAAGGTAACAGATTTTTTCCTCCATATTTTCTACTGTAGTTATGAAAATAGGTTTGTGATTCATTTGGAGTTAATTTTTTGTCTATGTTGTTAGGTGTTAGCGTTGAGGTTAATTTTTTTTTTTTTTTTTTTTTTGAGATGTTGTCTAGCTCCGTCGCTGAGGTGGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCGGGGATTACAGGTGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAG... | AGAATCCGTTGCCTACCTTAAGGTAACAGATTTTTTCCTCCATATTTTCTACTGTAGTTATGAAAATAGGTTTGTGATTCATTTGGAGTTAATTTTTTGTCTATGTTGTTAGGTGTTAGCGTTGAGGTTAATTTTTTTTTTTTTTTTTTTTTTGAGATGTTGTCTAGCTCCGTCGCTGAGGTGGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCGGGGATTACAGGTGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAG... | pathogenic | 216,562 |
The mutation in gene PCCA (propionyl-CoA carboxylase subunit alpha) at chromosome 13, position 100330625—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Propionic_acidemia'] | TAAGGTAACAGATTTTTTCCTCCATATTTTCTACTGTAGTTATGAAAATAGGTTTGTGATTCATTTGGAGTTAATTTTTTGTCTATGTTGTTAGGTGTTAGCGTTGAGGTTAATTTTTTTTTTTTTTTTTTTTTTGAGATGTTGTCTAGCTCCGTCGCTGAGGTGGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCGGGGATTACAGGTGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTG... | TAAGGTAACAGATTTTTTCCTCCATATTTTCTACTGTAGTTATGAAAATAGGTTTGTGATTCATTTGGAGTTAATTTTTTGTCTATGTTGTTAGGTGTTAGCGTTGAGGTTAATTTTTTTTTTTTTTTTTTTTTTGAGATGTTGTCTAGCTCCGTCGCTGAGGTGGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCGGGGATTACAGGTGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTG... | pathogenic | 216,563 |
Located at chromosome 13 position 100340136, the variant affecting gene PCCA (propionyl-CoA carboxylase subunit alpha)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GCTTGTTAGAAATGCAGATTATTACCCCTTGCCCTCATACCTTCTACCAGTCAGTCTGCTGGTGAAGTGCACACAGCATCTTTAATCCAGGTGATTCTGATGTTTGGTGAAGTTTGAGAAGCACTGGTTCTTTTTACACTCCAGAGAGCTTTTGTGATTATATATATTGATATTTACCACATTATAAATTAAAACTGAGGAACTTGAAAATATTTATTCATTCATTCTGAAAGTAATGGTAATAAATCCATTACGTGTTGACATGCATGAGAGCAGTGATGTCATCACACAATATGTGTCCCTTGGATCTGGGAACCTCT... | GCTTGTTAGAAATGCAGATTATTACCCCTTGCCCTCATACCTTCTACCAGTCAGTCTGCTGGTGAAGTGCACACAGCATCTTTAATCCAGGTGATTCTGATGTTTGGTGAAGTTTGAGAAGCACTGGTTCTTTTTACACTCCAGAGAGCTTTTGTGATTATATATATTGATATTTACCACATTATAAATTAAAACTGAGGAACTTGAAAATATTTATTCATTCATTCTGAAAGTAATGGTAATAAATCCATTACGTGTTGACATGCATGAGAGCAGTGATGTCATCACACAATATGTGTCCCTTGGATCTGGGAACCTCT... | benign | 216,566 |
Is the variant located on chromosome 13 at position 100340138, gene PCCA (propionyl-CoA carboxylase subunit alpha), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TTGTTAGAAATGCAGATTATTACCCCTTGCCCTCATACCTTCTACCAGTCAGTCTGCTGGTGAAGTGCACACAGCATCTTTAATCCAGGTGATTCTGATGTTTGGTGAAGTTTGAGAAGCACTGGTTCTTTTTACACTCCAGAGAGCTTTTGTGATTATATATATTGATATTTACCACATTATAAATTAAAACTGAGGAACTTGAAAATATTTATTCATTCATTCTGAAAGTAATGGTAATAAATCCATTACGTGTTGACATGCATGAGAGCAGTGATGTCATCACACAATATGTGTCCCTTGGATCTGGGAACCTCTGC... | TTGTTAGAAATGCAGATTATTACCCCTTGCCCTCATACCTTCTACCAGTCAGTCTGCTGGTGAAGTGCACACAGCATCTTTAATCCAGGTGATTCTGATGTTTGGTGAAGTTTGAGAAGCACTGGTTCTTTTTACACTCCAGAGAGCTTTTGTGATTATATATATTGATATTTACCACATTATAAATTAAAACTGAGGAACTTGAAAATATTTATTCATTCATTCTGAAAGTAATGGTAATAAATCCATTACGTGTTGACATGCATGAGAGCAGTGATGTCATCACACAATATGTGTCCCTTGGATCTGGGAACCTCTGC... | benign | 216,567 |
Determine whether the variant at chromosome 13, position 100340209, in gene PCCA (propionyl-CoA carboxylase subunit alpha) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Propionic_acidemia'] | CAGCATCTTTAATCCAGGTGATTCTGATGTTTGGTGAAGTTTGAGAAGCACTGGTTCTTTTTACACTCCAGAGAGCTTTTGTGATTATATATATTGATATTTACCACATTATAAATTAAAACTGAGGAACTTGAAAATATTTATTCATTCATTCTGAAAGTAATGGTAATAAATCCATTACGTGTTGACATGCATGAGAGCAGTGATGTCATCACACAATATGTGTCCCTTGGATCTGGGAACCTCTGCAGTATACTCTTGAGAAAATGAGAGTTAAAAAAGCAAATATATTTTAGTAGTACTATGAAAATCATTTGACC... | CAGCATCTTTAATCCAGGTGATTCTGATGTTTGGTGAAGTTTGAGAAGCACTGGTTCTTTTTACACTCCAGAGAGCTTTTGTGATTATATATATTGATATTTACCACATTATAAATTAAAACTGAGGAACTTGAAAATATTTATTCATTCATTCTGAAAGTAATGGTAATAAATCCATTACGTGTTGACATGCATGAGAGCAGTGATGTCATCACACAATATGTGTCCCTTGGATCTGGGAACCTCTGCAGTATACTCTTGAGAAAATGAGAGTTAAAAAAGCAAATATATTTTAGTAGTACTATGAAAATCATTTGACC... | pathogenic | 216,569 |
Variant chromosome 13, position 100368543, gene PCCA (propionyl-CoA carboxylase subunit alpha): benign or pathogenic? Disease(s)? | pathogenic; ['Propionic_acidemia'] | GACACTGGGAGACAAACATATAAACAAATAAATGCCCTGTAGAATAAAGGTGCTAAGAAAAAAAAGAGGAATACTGGCACAGAAGCCCTTTCTTCCCTTCTTCCTTTCTGCTCAGACCTCCTTTTCTTTCCCTCTCCTCCTCCCCTCCCCACTGTGTGTTGTCTCCCTCAACTCCCCTGCACCCCCATTCATTCATACTCTTCTGTGTGAGGCTCTATCCCCTGAAACAGTTCTTTTCACACTGCCAGAAAGAATCGTCAAGGCCTGTGTGTACAGTGTGCATTATTGTTGATGCATTTTTTTTTTACTTTTATTTTTAC... | GACACTGGGAGACAAACATATAAACAAATAAATGCCCTGTAGAATAAAGGTGCTAAGAAAAAAAAGAGGAATACTGGCACAGAAGCCCTTTCTTCCCTTCTTCCTTTCTGCTCAGACCTCCTTTTCTTTCCCTCTCCTCCTCCCCTCCCCACTGTGTGTTGTCTCCCTCAACTCCCCTGCACCCCCATTCATTCATACTCTTCTGTGTGAGGCTCTATCCCCTGAAACAGTTCTTTTCACACTGCCAGAAAGAATCGTCAAGGCCTGTGTGTACAGTGTGCATTATTGTTGATGCATTTTTTTTTTACTTTTATTTTTAC... | pathogenic | 216,573 |
Regarding the variant at chromosome 13 and position 100425693, affecting gene PCCA (propionyl-CoA carboxylase subunit alpha): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Propionic_acidemia'] | ATCATCTTTGTCAGAGGCCCTCTACCTTTAGTAGTGGATGGTGGGAAGAAAAATTTGTGAGTAAACAGGATCTTGGCCTCTGTTGGTTTAAACAGTCTCTTTGGGGTAATGTGTTTCAGTTTTCTTCTATCCCCAGCTTCTGCTGAGGTGAGGTCTGGGAGCAGTGAGAGAGGCCTTTGGGAATGATGCTTAGATCTGCCTCGCGGCGCTGGCATGGGGAGAACGTAGACTCACACGCAGTCTTCCTGAGGCTTTGCTACGAGGGCCTGGGTGGGTAACCACTGAGTAACATCTCTCGCTGTTGAGGCTTTGAAAGCCTT... | ATCATCTTTGTCAGAGGCCCTCTACCTTTAGTAGTGGATGGTGGGAAGAAAAATTTGTGAGTAAACAGGATCTTGGCCTCTGTTGGTTTAAACAGTCTCTTTGGGGTAATGTGTTTCAGTTTTCTTCTATCCCCAGCTTCTGCTGAGGTGAGGTCTGGGAGCAGTGAGAGAGGCCTTTGGGAATGATGCTTAGATCTGCCTCGCGGCGCTGGCATGGGGAGAACGTAGACTCACACGCAGTCTTCCTGAGGCTTTGCTACGAGGGCCTGGGTGGGTAACCACTGAGTAACATCTCTCGCTGTTGAGGCTTTGAAAGCCTT... | pathogenic | 216,581 |
A mutation at chromosome position 100449250 on chromosome 13 in gene PCCA (propionyl-CoA carboxylase subunit alpha): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Propionic_acidemia'] | GCAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGGAGATGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCCGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTAACAGAGTGAAACTTTGTCTCAAAAAAAAAGATGTGAAATGGGTTGGTTGGGCATGGTGGCTCATACCTGTAATCCCAGCACTTTTGGGAGCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAA... | GCAAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGGAGATGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCCGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTAACAGAGTGAAACTTTGTCTCAAAAAAAAAGATGTGAAATGGGTTGGTTGGGCATGGTGGCTCATACCTGTAATCCCAGCACTTTTGGGAGCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAA... | pathogenic | 216,585 |
Classify the chromosome 13 variant at position 100449305 affecting gene PCCA (propionyl-CoA carboxylase subunit alpha) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Propionic_acidemia'] | GCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCCGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTAACAGAGTGAAACTTTGTCTCAAAAAAAAAGATGTGAAATGGGTTGGTTGGGCATGGTGGCTCATACCTGTAATCCCAGCACTTTTGGGAGCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGCAGATGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAAGCTGAGG... | GCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCCGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTAACAGAGTGAAACTTTGTCTCAAAAAAAAAGATGTGAAATGGGTTGGTTGGGCATGGTGGCTCATACCTGTAATCCCAGCACTTTTGGGAGCTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGCAGATGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAAGCTGAGG... | pathogenic | 216,589 |
Does the chromosome 13 mutation at position 100515517 within gene PCCA (propionyl-CoA carboxylase subunit alpha) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Propionic_acidemia'] | GGAGTCCTACAGAGAAAGGAATCTGAAAGATGAAAATTATAAAAATAGTAAAAGGATCCAGTGTTCGTCAGAATCTTGTAATTTCTGGGGAGAAATGAAGCTAAATACAGTCTTAGCGCTTCGTTCATATGCAGGCTGATCTGTGATATAACTAAACTTAGTTTTTGGAGTATATCCACTGTGGGGAAATGTGGTAAATCATATTCTCAGCGAATGAAGATACTTTTCCTGAATTTAGGCTTCATATTTTGAAGTCGAATTCTGCAAAACAAGAAAAAAATAGATCTGTGTGCTACACTGAAAACTGAACAAGGCACGTC... | GGAGTCCTACAGAGAAAGGAATCTGAAAGATGAAAATTATAAAAATAGTAAAAGGATCCAGTGTTCGTCAGAATCTTGTAATTTCTGGGGAGAAATGAAGCTAAATACAGTCTTAGCGCTTCGTTCATATGCAGGCTGATCTGTGATATAACTAAACTTAGTTTTTGGAGTATATCCACTGTGGGGAAATGTGGTAAATCATATTCTCAGCGAATGAAGATACTTTTCCTGAATTTAGGCTTCATATTTTGAAGTCGAATTCTGCAAAACAAGAAAAAAATAGATCTGTGTGCTACACTGAAAACTGAACAAGGCACGTC... | pathogenic | 216,592 |
Gene mutation in PCCA (propionyl-CoA carboxylase subunit alpha) at chromosome 13, position 100515552—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Propionic_acidemia'] | ATTATAAAAATAGTAAAAGGATCCAGTGTTCGTCAGAATCTTGTAATTTCTGGGGAGAAATGAAGCTAAATACAGTCTTAGCGCTTCGTTCATATGCAGGCTGATCTGTGATATAACTAAACTTAGTTTTTGGAGTATATCCACTGTGGGGAAATGTGGTAAATCATATTCTCAGCGAATGAAGATACTTTTCCTGAATTTAGGCTTCATATTTTGAAGTCGAATTCTGCAAAACAAGAAAAAAATAGATCTGTGTGCTACACTGAAAACTGAACAAGGCACGTCGTAAGTCAGTCACACAGAAGGCGCAGCTCAGGGCG... | ATTATAAAAATAGTAAAAGGATCCAGTGTTCGTCAGAATCTTGTAATTTCTGGGGAGAAATGAAGCTAAATACAGTCTTAGCGCTTCGTTCATATGCAGGCTGATCTGTGATATAACTAAACTTAGTTTTTGGAGTATATCCACTGTGGGGAAATGTGGTAAATCATATTCTCAGCGAATGAAGATACTTTTCCTGAATTTAGGCTTCATATTTTGAAGTCGAATTCTGCAAAACAAGAAAAAAATAGATCTGTGTGCTACACTGAAAACTGAACAAGGCACGTCGTAAGTCAGTCACACAGAAGGCGCAGCTCAGGGCG... | pathogenic | 216,594 |
Considering the variant on chromosome 13, location 100515575, involving gene PCCA (propionyl-CoA carboxylase subunit alpha), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CAGTGTTCGTCAGAATCTTGTAATTTCTGGGGAGAAATGAAGCTAAATACAGTCTTAGCGCTTCGTTCATATGCAGGCTGATCTGTGATATAACTAAACTTAGTTTTTGGAGTATATCCACTGTGGGGAAATGTGGTAAATCATATTCTCAGCGAATGAAGATACTTTTCCTGAATTTAGGCTTCATATTTTGAAGTCGAATTCTGCAAAACAAGAAAAAAATAGATCTGTGTGCTACACTGAAAACTGAACAAGGCACGTCGTAAGTCAGTCACACAGAAGGCGCAGCTCAGGGCGATACCAACTAGAAAAGTAACTTT... | CAGTGTTCGTCAGAATCTTGTAATTTCTGGGGAGAAATGAAGCTAAATACAGTCTTAGCGCTTCGTTCATATGCAGGCTGATCTGTGATATAACTAAACTTAGTTTTTGGAGTATATCCACTGTGGGGAAATGTGGTAAATCATATTCTCAGCGAATGAAGATACTTTTCCTGAATTTAGGCTTCATATTTTGAAGTCGAATTCTGCAAAACAAGAAAAAAATAGATCTGTGTGCTACACTGAAAACTGAACAAGGCACGTCGTAAGTCAGTCACACAGAAGGCGCAGCTCAGGGCGATACCAACTAGAAAAGTAACTTT... | benign | 216,596 |
Evaluate if the mutation on chromosome 13 at position 100527736 in PCCA (propionyl-CoA carboxylase subunit alpha) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Propionic_acidemia'] | GTGTGGTGGAAGGGCACACCTACTGGCAGAGAGGGTAGGGGCTGTGCCACCCATGTGAAGCCAATGTACTTGGCGGGGGGACGGGGCTCTGGCCAGTCCTGGGCCCTCAGATGCCTGCAGAGGAAGGGCTGGGTGGGTGTTTGGGAGGCCGGCATGCAGTCCCCAGGAAGCTCCTCCACCTGGAGAGAGAACAGTGCCCAGAGCGGGAGAGTGGATTCCTCATTTTTGGATGGCATTTCTACTATGTTCTGTTGAGTCTCAGATCCACTTCCCAGAGAGTCCCCGGTCCTGTTGCCTGAGTGCTCAGTCCTAGGTCAGAG... | GTGTGGTGGAAGGGCACACCTACTGGCAGAGAGGGTAGGGGCTGTGCCACCCATGTGAAGCCAATGTACTTGGCGGGGGGACGGGGCTCTGGCCAGTCCTGGGCCCTCAGATGCCTGCAGAGGAAGGGCTGGGTGGGTGTTTGGGAGGCCGGCATGCAGTCCCCAGGAAGCTCCTCCACCTGGAGAGAGAACAGTGCCCAGAGCGGGAGAGTGGATTCCTCATTTTTGGATGGCATTTCTACTATGTTCTGTTGAGTCTCAGATCCACTTCCCAGAGAGTCCCCGGTCCTGTTGCCTGAGTGCTCAGTCCTAGGTCAGAG... | pathogenic | 216,602 |
The chromosome 13, position 100530105 genetic variant in gene PCCA (propionyl-CoA carboxylase subunit alpha): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Propionic_acidemia'] | GAAGGCAGTTAGTTATCTGAGACTTAGGTGACACAGCAGCAAATGGTTTTACAAATTGCAAAAATTAATGTAACTCTTCAAGACAATTTCTCTACAAAGGGAACAATTCAGTTGCAGATCAAGAGAAGCCAAAACCCCATGTACATGTGGGACTTAATTATTTAGGGAGAAAAAAATATTAGTACTGAAATTCATTCATAGTGAAACTTAAGTGTATTTTTTTCTTGAAGATAGAAAAGTCCTTTTAAGCAGTAACTTCATTATTCTTCCTGTGACTAAAAAGACTGAAAAGATGCCGTTAGTAGGTAAATGATCCTTTT... | GAAGGCAGTTAGTTATCTGAGACTTAGGTGACACAGCAGCAAATGGTTTTACAAATTGCAAAAATTAATGTAACTCTTCAAGACAATTTCTCTACAAAGGGAACAATTCAGTTGCAGATCAAGAGAAGCCAAAACCCCATGTACATGTGGGACTTAATTATTTAGGGAGAAAAAAATATTAGTACTGAAATTCATTCATAGTGAAACTTAAGTGTATTTTTTTCTTGAAGATAGAAAAGTCCTTTTAAGCAGTAACTTCATTATTCTTCCTGTGACTAAAAAGACTGAAAAGATGCCGTTAGTAGGTAAATGATCCTTTT... | pathogenic | 216,607 |
Variant at chromosome position 100530222, chromosome 13, gene PCCA: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | ATCAAGAGAAGCCAAAACCCCATGTACATGTGGGACTTAATTATTTAGGGAGAAAAAAATATTAGTACTGAAATTCATTCATAGTGAAACTTAAGTGTATTTTTTTCTTGAAGATAGAAAAGTCCTTTTAAGCAGTAACTTCATTATTCTTCCTGTGACTAAAAAGACTGAAAAGATGCCGTTAGTAGGTAAATGATCCTTTTGTGAGGGCCGTTGTGGTTTGGAAGTGTCTGCATGGGAGAGCATGATGGGAAGCGCAAGGCTGGCCGTGTTCTGCATGTGGCCATGCCTTGGGGACATCAGGTGCAAAGAGAGATCCA... | ATCAAGAGAAGCCAAAACCCCATGTACATGTGGGACTTAATTATTTAGGGAGAAAAAAATATTAGTACTGAAATTCATTCATAGTGAAACTTAAGTGTATTTTTTTCTTGAAGATAGAAAAGTCCTTTTAAGCAGTAACTTCATTATTCTTCCTGTGACTAAAAAGACTGAAAAGATGCCGTTAGTAGGTAAATGATCCTTTTGTGAGGGCCGTTGTGGTTTGGAAGTGTCTGCATGGGAGAGCATGATGGGAAGCGCAAGGCTGGCCGTGTTCTGCATGTGGCCATGCCTTGGGGACATCAGGTGCAAAGAGAGATCCA... | benign | 216,608 |
Variant in PCCA, chromosome 13, position 100530318—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GTATTTTTTTCTTGAAGATAGAAAAGTCCTTTTAAGCAGTAACTTCATTATTCTTCCTGTGACTAAAAAGACTGAAAAGATGCCGTTAGTAGGTAAATGATCCTTTTGTGAGGGCCGTTGTGGTTTGGAAGTGTCTGCATGGGAGAGCATGATGGGAAGCGCAAGGCTGGCCGTGTTCTGCATGTGGCCATGCCTTGGGGACATCAGGTGCAAAGAGAGATCCATCAGTTCATAACCAGGTTTGCATCAGAGAGACACACAACCTCTGTCTCATGCTCTGTCACTGCAGAAGGCAATGAAATGGATTCTCAGAGAAGGGG... | GTATTTTTTTCTTGAAGATAGAAAAGTCCTTTTAAGCAGTAACTTCATTATTCTTCCTGTGACTAAAAAGACTGAAAAGATGCCGTTAGTAGGTAAATGATCCTTTTGTGAGGGCCGTTGTGGTTTGGAAGTGTCTGCATGGGAGAGCATGATGGGAAGCGCAAGGCTGGCCGTGTTCTGCATGTGGCCATGCCTTGGGGACATCAGGTGCAAAGAGAGATCCATCAGTTCATAACCAGGTTTGCATCAGAGAGACACACAACCTCTGTCTCATGCTCTGTCACTGCAGAAGGCAATGAAATGGATTCTCAGAGAAGGGG... | benign | 216,610 |
Considering the genetic mutation at chromosome 13, position 101055494, impacting NALCN: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGTTTCGTGAGAATGAAGCTGTATTACTCAAGTGTAATGAGCCAAAAACATCTTGTTTTTATGCAGCACTAGTACAGACCCATGCCCTGGACCTGTAAGTGCCTTTTCTGTTCATTGTAGGCTTAGAGGGCACAGGGTATTCACTCAGCCTTATCAGCACAAGTGTGAAAGGAACATTCTGGCTCAGAGAATTGAGTTGAAATGAGTATCAGGGACACAGCTTTTGCCAACTAATTATGGACTGAATATTCAATCCAGGTTTGCAATGTGCTGCTACCGAGTGCCTGCCCCACCAAGAAAAGGGTTTAAAAATGGTCAAC... | AGTTTCGTGAGAATGAAGCTGTATTACTCAAGTGTAATGAGCCAAAAACATCTTGTTTTTATGCAGCACTAGTACAGACCCATGCCCTGGACCTGTAAGTGCCTTTTCTGTTCATTGTAGGCTTAGAGGGCACAGGGTATTCACTCAGCCTTATCAGCACAAGTGTGAAAGGAACATTCTGGCTCAGAGAATTGAGTTGAAATGAGTATCAGGGACACAGCTTTTGCCAACTAATTATGGACTGAATATTCAATCCAGGTTTGCAATGTGCTGCTACCGAGTGCCTGCCCCACCAAGAAAAGGGTTTAAAAATGGTCAAC... | benign | 216,612 |
The chromosome 13, position 101073687 genetic variant in gene NALCN (sodium leak channel, non-selective): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TCTTCTACTGAGACCGGTAAAATTTTTTCTCCATATCAGCCATAAGGCTATTTCTTATCAGTCATGTGTTCACTGGAGTAGCATTTTAATTCCCTTCAAGAACTTTTCCTTTGAATTTACAACTTGAGTAACTATTTGGTGCAAGGGACCTAGCTTTTGGGCTAACTCAGCTTTTGACATGCCTTCCTCCATAAGCTTAATCATTTCTAGCTTTTGATTTGAAGTGACTGATGTGTGAATCTTCTATTCACTTGAACACTTATAGGCCATTGTAGGGTTGTGAATCGGCCTAATGTCAATATTGTTGTGTCTCAGGACAT... | TCTTCTACTGAGACCGGTAAAATTTTTTCTCCATATCAGCCATAAGGCTATTTCTTATCAGTCATGTGTTCACTGGAGTAGCATTTTAATTCCCTTCAAGAACTTTTCCTTTGAATTTACAACTTGAGTAACTATTTGGTGCAAGGGACCTAGCTTTTGGGCTAACTCAGCTTTTGACATGCCTTCCTCCATAAGCTTAATCATTTCTAGCTTTTGATTTGAAGTGACTGATGTGTGAATCTTCTATTCACTTGAACACTTATAGGCCATTGTAGGGTTGTGAATCGGCCTAATGTCAATATTGTTGTGTCTCAGGACAT... | benign | 216,634 |
Regarding the variant found on chromosome 13 at position 101073687 in gene NALCN (sodium leak channel, non-selective): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TCTTCTACTGAGACCGGTAAAATTTTTTCTCCATATCAGCCATAAGGCTATTTCTTATCAGTCATGTGTTCACTGGAGTAGCATTTTAATTCCCTTCAAGAACTTTTCCTTTGAATTTACAACTTGAGTAACTATTTGGTGCAAGGGACCTAGCTTTTGGGCTAACTCAGCTTTTGACATGCCTTCCTCCATAAGCTTAATCATTTCTAGCTTTTGATTTGAAGTGACTGATGTGTGAATCTTCTATTCACTTGAACACTTATAGGCCATTGTAGGGTTGTGAATCGGCCTAATGTCAATATTGTTGTGTCTCAGGACAT... | TCTTCTACTGAGACCGGTAAAATTTTTTCTCCATATCAGCCATAAGGCTATTTCTTATCAGTCATGTGTTCACTGGAGTAGCATTTTAATTCCCTTCAAGAACTTTTCCTTTGAATTTACAACTTGAGTAACTATTTGGTGCAAGGGACCTAGCTTTTGGGCTAACTCAGCTTTTGACATGCCTTCCTCCATAAGCTTAATCATTTCTAGCTTTTGATTTGAAGTGACTGATGTGTGAATCTTCTATTCACTTGAACACTTATAGGCCATTGTAGGGTTGTGAATCGGCCTAATGTCAATATTGTTGTGTCTCAGGACAT... | benign | 216,635 |
Gene NALCN (sodium leak channel, non-selective) variant at chromosome 13, position 101074692—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TGCTAGGTTTGTGCCAAGTTTGGGGAGAGACTGGTAAGAAAGACATAGGCGGCCCTATCTCTTCTTCCTACTGACAGTTGAGTGCTGTGCAGTCCAATATGGTGACCACTAGCTCCATGCAGCGATGTAAATTTAAATTTATGTTAATTAAAATGTAATAATATAAAATTAAAACTAAAATTCAGTTCCTCAGTTGTGTTAGCCACATTTTAAATGCTCCATAACCACATATGGCTAGTGGCTCCCGAATTGGACAGTGCAGATTTCCATCACTGCAGACATTTTTTAACACAGCATTGGTCTGTCCTACGGTGAGAAAG... | TGCTAGGTTTGTGCCAAGTTTGGGGAGAGACTGGTAAGAAAGACATAGGCGGCCCTATCTCTTCTTCCTACTGACAGTTGAGTGCTGTGCAGTCCAATATGGTGACCACTAGCTCCATGCAGCGATGTAAATTTAAATTTATGTTAATTAAAATGTAATAATATAAAATTAAAACTAAAATTCAGTTCCTCAGTTGTGTTAGCCACATTTTAAATGCTCCATAACCACATATGGCTAGTGGCTCCCGAATTGGACAGTGCAGATTTCCATCACTGCAGACATTTTTTAACACAGCATTGGTCTGTCCTACGGTGAGAAAG... | benign | 216,639 |
Regarding the variant found on chromosome 13 at position 101103172 in gene NALCN (sodium leak channel, non-selective): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_1', 'likely other unspecified diseases'] | AATGGAATAAGGTATTTTTGATATGGCTTGAACTTTTCTGACTTTAAAATCAACACCTTGATCTTTTTTATTTAATGGAACAAAGGAAAAAAATGTTTAAGTAATTATATTTTGTCTATTTTTTCCCAAATGGACATATATATATTTATTTTTTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTGCCACTCTGTCCCCCAGGGTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTACTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACGCCACCAAGCCCAG... | AATGGAATAAGGTATTTTTGATATGGCTTGAACTTTTCTGACTTTAAAATCAACACCTTGATCTTTTTTATTTAATGGAACAAAGGAAAAAAATGTTTAAGTAATTATATTTTGTCTATTTTTTCCCAAATGGACATATATATATTTATTTTTTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTGCCACTCTGTCCCCCAGGGTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTACTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACGCCACCAAGCCCAG... | pathogenic | 216,671 |
Clinical classification of chromosome 13, position 101229529, gene NALCN (sodium leak channel, non-selective): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_1'] | GTGGAACACTGGCTATACACAGGGAATTGAGGCCCCAAGTCTGGGGTGAATTAAGATTTCCATGTGGAGGTTGCTGGGGGAGTGTGCTAAGTAAAAATGCTATGTAAATTGCATGCATTTTGCAAGCAGGTCTTGTTCTCCTGACCAGCCAGCCAGCATTGGACTCCCTCCCCTGTATGTAAGCCCTCAATGAAACCCCATGTCTCATCTGCTGGCTCTGGGTCTCTTCTTCAGCCTCTTGAACCTGGTGCCTTCCCTACTAGAGTTGATAGGAGTTTGGCATGACAGATACGATCACACTTTCAACCGACTTCAGAGTT... | GTGGAACACTGGCTATACACAGGGAATTGAGGCCCCAAGTCTGGGGTGAATTAAGATTTCCATGTGGAGGTTGCTGGGGGAGTGTGCTAAGTAAAAATGCTATGTAAATTGCATGCATTTTGCAAGCAGGTCTTGTTCTCCTGACCAGCCAGCCAGCATTGGACTCCCTCCCCTGTATGTAAGCCCTCAATGAAACCCCATGTCTCATCTGCTGGCTCTGGGTCTCTTCTTCAGCCTCTTGAACCTGGTGCCTTCCCTACTAGAGTTGATAGGAGTTTGGCATGACAGATACGATCACACTTTCAACCGACTTCAGAGTT... | pathogenic | 216,716 |
Considering the genetic mutation at chromosome 13, position 101237932, impacting NALCN (sodium leak channel, non-selective): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GAATATTGTTCTGAAAATAATATTTTGGTATTACTAATAAATAAAATCAATAAAGTTGCAATGCATGTTCTTTTTCCTAAGGGGTTAGAGTCCTGTTTCTCAAAATTACTTCTTTAAAATTCTACTGTCATTTTATTTCCCAAATATTTAACAATATCTATTTAGAAAACAATCAATGCACATTCTAGTGTTTCCATGATAAATTATATAAATGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGGAAAAATGCTCACCATCACTGGCCATCAGAGAAACGCAAATGAAAAC... | GAATATTGTTCTGAAAATAATATTTTGGTATTACTAATAAATAAAATCAATAAAGTTGCAATGCATGTTCTTTTTCCTAAGGGGTTAGAGTCCTGTTTCTCAAAATTACTTCTTTAAAATTCTACTGTCATTTTATTTCCCAAATATTTAACAATATCTATTTAGAAAACAATCAATGCACATTCTAGTGTTTCCATGATAAATTATATAAATGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGGAAAAATGCTCACCATCACTGGCCATCAGAGAAACGCAAATGAAAAC... | benign | 216,719 |
Does the genetic variant at chromosome 13, position 101376806, impacting gene NALCN (sodium leak channel, non-selective), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_1'] | ATGCCTCCTGGTCTGAAAACACGTGGAAACAAAATCTCTACCTTTTTGGAGTTGACATTCTTTGGGGTGGTGCAACAGCAAACAACTAAATTCACTTTTAGTTTTTAGAACATTATATAATTATTAGGAGTTGCATAATATACATATACTGTTTGTGCATGAATTAGAAATTCAATTATTAAATTTATTTCTGTGAGAGACTAATAATTAAATGACCATTATAAATGTGAAATAAACTCAGAATTAATTTAGTTACTTTGTCAGTAAAATAACATAGCCATGAGTTACTCATAGATGTTTTCCTTTCACACTCTTACAAG... | ATGCCTCCTGGTCTGAAAACACGTGGAAACAAAATCTCTACCTTTTTGGAGTTGACATTCTTTGGGGTGGTGCAACAGCAAACAACTAAATTCACTTTTAGTTTTTAGAACATTATATAATTATTAGGAGTTGCATAATATACATATACTGTTTGTGCATGAATTAGAAATTCAATTATTAAATTTATTTCTGTGAGAGACTAATAATTAAATGACCATTATAAATGTGAAATAAACTCAGAATTAATTTAGTTACTTTGTCAGTAAAATAACATAGCCATGAGTTACTCATAGATGTTTTCCTTTCACACTCTTACAAG... | pathogenic | 216,731 |
Regarding the variant at chromosome 13 and position 101722654, affecting gene FGF14 (fibroblast growth factor 14): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AGTAGTGTCCATAAGCCCATTTGACTGTATTACAAGTTAGTTAATTACTCATATAGTTGGCCACATATTATGGGATCTATGTTTTCTGAAAATAATTGGTTAATGGAAGTTATCTAATATATTTTAACTGTTCCTGTTAAAAACAATAGGCTTCAAGATGACATAACACCAAATCAAAAATGACCAAAGGAATCATTTTGTTTGTTAGATTTGTAATTTAGCATCATTGGCAATAAATCTACTCAAACGTTCTGCTAACTTTTTATTTATTCAAGTAGAATCCAATATGAAAATGAAATAAGCATAAACAAACAGTTAAA... | AGTAGTGTCCATAAGCCCATTTGACTGTATTACAAGTTAGTTAATTACTCATATAGTTGGCCACATATTATGGGATCTATGTTTTCTGAAAATAATTGGTTAATGGAAGTTATCTAATATATTTTAACTGTTCCTGTTAAAAACAATAGGCTTCAAGATGACATAACACCAAATCAAAAATGACCAAAGGAATCATTTTGTTTGTTAGATTTGTAATTTAGCATCATTGGCAATAAATCTACTCAAACGTTCTGCTAACTTTTTATTTATTCAAGTAGAATCCAATATGAAAATGAAATAAGCATAAACAAACAGTTAAA... | benign | 216,752 |
Is the chromosome 13, position 101722975 variant in FGF14 (fibroblast growth factor 14) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TTCTACTAAACCTTTAATCAGCTAAGCAGGCCAGAATTTTTTAATGCTGGGCAAGGGCTGTCATGAAGAAGATTTATGAAAGCAGTGACAAAATAATTTCCCAATAAATACAGTGCAGATGGGGAAAATGATGACTGGGTCATCCTCCCACATAGAAAGAATAACAAGAGGCCAGTACATTGATCCCACATATAATTTTCAATAAATGAGGTTCAGTTTGGTCTCAATGAACTCTTCTGAGAAGAAAACATTGAATTTTATTAGGTGTACACAGAGTTAACAAATAAATTCCCAAACAGTTTAGTATGAAACATTTTGAA... | TTCTACTAAACCTTTAATCAGCTAAGCAGGCCAGAATTTTTTAATGCTGGGCAAGGGCTGTCATGAAGAAGATTTATGAAAGCAGTGACAAAATAATTTCCCAATAAATACAGTGCAGATGGGGAAAATGATGACTGGGTCATCCTCCCACATAGAAAGAATAACAAGAGGCCAGTACATTGATCCCACATATAATTTTCAATAAATGAGGTTCAGTTTGGTCTCAATGAACTCTTCTGAGAAGAAAACATTGAATTTTATTAGGTGTACACAGAGTTAACAAATAAATTCCCAAACAGTTTAGTATGAAACATTTTGAA... | benign | 216,758 |
Gene FGF14 (fibroblast growth factor 14) variant at chromosome 13, position 101726654—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic | ATATATATATATATATATATATATATAAAACAAAGATATGAATGCCCTAGAGTACCAATAATTAACCAGGTACTTAATTTGTCAAACATTTCCAATAACATTATTTATATTCGGTATGGGTTTTGAAAGTTTGAAATTAATTTTCCTCTATCAAGTAAACAATGTGATAATCTCTGTCGTTATAGTACCTACCCCCTTAACTGTTTTTAGAGTACTTCTGCTAATTTTTTGAAAACATAAAAAGTATTATTTCTCTCTTTCTCATATATATATATGTATATATACACACAAAACACTCATATACACATAACAAATACATG... | ATATATATATATATATATATATATATAAAACAAAGATATGAATGCCCTAGAGTACCAATAATTAACCAGGTACTTAATTTGTCAAACATTTCCAATAACATTATTTATATTCGGTATGGGTTTTGAAAGTTTGAAATTAATTTTCCTCTATCAAGTAAACAATGTGATAATCTCTGTCGTTATAGTACCTACCCCCTTAACTGTTTTTAGAGTACTTCTGCTAATTTTTTGAAAACATAAAAAGTATTATTTCTCTCTTTCTCATATATATATATGTATATATACACACAAAACACTCATATACACATAACAAATACATG... | pathogenic | 216,761 |
Is the genetic change at chromosome 13, position 102643201, within gene TPP2 (tripeptidyl peptidase 2) benign or pathogenic? Name the disease(s) if pathogenic. | benign | AGAGTGCTCATGTCATTCTTTTTTACAAGAGCTGTGGGTGTACCATATTTTCCTTCACAAGTTGTGTGTCCTAAATTTACAATTTAGCAGTCAGTATAGAAGGGTATGTCAGTTGTCAGAGCTCACTCCCATTGATAGAAGGAAGCAAATACGGGCAGTCAAGAAAGTGTCACCCAATTTAAATTAGTAGCCAGCATTGTTGATACTTCTTGGATTTGGCCCCTCTGCTAAGCACTTTACAGAGATTATCTTGTCTAGTCCCGTCAGAACCCTATAAGGTAGATAGGTGTCATTAGTAAAAATGGCTTGTATTTTACTTA... | AGAGTGCTCATGTCATTCTTTTTTACAAGAGCTGTGGGTGTACCATATTTTCCTTCACAAGTTGTGTGTCCTAAATTTACAATTTAGCAGTCAGTATAGAAGGGTATGTCAGTTGTCAGAGCTCACTCCCATTGATAGAAGGAAGCAAATACGGGCAGTCAAGAAAGTGTCACCCAATTTAAATTAGTAGCCAGCATTGTTGATACTTCTTGGATTTGGCCCCTCTGCTAAGCACTTTACAGAGATTATCTTGTCTAGTCCCGTCAGAACCCTATAAGGTAGATAGGTGTCATTAGTAAAAATGGCTTGTATTTTACTTA... | benign | 216,782 |
Is the genetic mutation found on chromosome 13 at position 102862262, within the gene ERCC5, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cerebrooculofacioskeletal_syndrome_3', 'Xeroderma_pigmentosum,_group_G'] | CTTTAAATGAAAAGGTGAAAGTTCTTGAATTAATAAGGAAAGAAAAAAATCGTATTCTGGCTGAGGTTGCTTAGATCTGCATAAAAATGACTTTTCTATCTGTGATATTGTGAAGAAGCGAAAAGAAATTGGTGCTAGTTTTGCTGCCGTACCATAAACTGCAAAAGTCATGACCTCAGCGTGTGATAAGTGCTCAGTTAGGATGGAAAAGCCATTACATTTTGGGGTGGAAGACATGAAGAGAAACATGTTCTGATTGATGACAATCAGGTTTGGTACTTCTGCAGTTTCAGGCATCCTCTGGGGGTCTTGGAACATAC... | CTTTAAATGAAAAGGTGAAAGTTCTTGAATTAATAAGGAAAGAAAAAAATCGTATTCTGGCTGAGGTTGCTTAGATCTGCATAAAAATGACTTTTCTATCTGTGATATTGTGAAGAAGCGAAAAGAAATTGGTGCTAGTTTTGCTGCCGTACCATAAACTGCAAAAGTCATGACCTCAGCGTGTGATAAGTGCTCAGTTAGGATGGAAAAGCCATTACATTTTGGGGTGGAAGACATGAAGAGAAACATGTTCTGATTGATGACAATCAGGTTTGGTACTTCTGCAGTTTCAGGCATCCTCTGGGGGTCTTGGAACATAC... | pathogenic | 216,835 |
Is the variant located on chromosome 13 at position 102862320, gene ERCC5, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cerebrooculofacioskeletal_syndrome_3', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_G'] | GGCTGAGGTTGCTTAGATCTGCATAAAAATGACTTTTCTATCTGTGATATTGTGAAGAAGCGAAAAGAAATTGGTGCTAGTTTTGCTGCCGTACCATAAACTGCAAAAGTCATGACCTCAGCGTGTGATAAGTGCTCAGTTAGGATGGAAAAGCCATTACATTTTGGGGTGGAAGACATGAAGAGAAACATGTTCTGATTGATGACAATCAGGTTTGGTACTTCTGCAGTTTCAGGCATCCTCTGGGGGTCTTGGAACATACCCCAAGGATGAGGGGGCTGTCTACTATGTTAATAGAATCAATTGTAGTAAATTGACAT... | GGCTGAGGTTGCTTAGATCTGCATAAAAATGACTTTTCTATCTGTGATATTGTGAAGAAGCGAAAAGAAATTGGTGCTAGTTTTGCTGCCGTACCATAAACTGCAAAAGTCATGACCTCAGCGTGTGATAAGTGCTCAGTTAGGATGGAAAAGCCATTACATTTTGGGGTGGAAGACATGAAGAGAAACATGTTCTGATTGATGACAATCAGGTTTGGTACTTCTGCAGTTTCAGGCATCCTCTGGGGGTCTTGGAACATACCCCAAGGATGAGGGGGCTGTCTACTATGTTAATAGAATCAATTGTAGTAAATTGACAT... | pathogenic | 216,838 |
Considering the genetic mutation at chromosome 13, position 102866738, impacting ERCC5: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cerebrooculofacioskeletal_syndrome_3', 'Xeroderma_pigmentosum'] | TTCCTTTCAGTGGAGCATGGGGTTTAGACACCACAAGCTGGATGTGAGTGTGCTTATGGATCCTGAGGTATAACTGTCTCAGGCCTTTTCAGCAACAGTGCCAGGAAGTATATTTATGTATACATATACATGCACACACACATCTATATTTATTTCTATGTCTATCTGTACTAAAATCCATGAGTTTATACTGACATCTGCAATTCCATGGGGTTCAGTCTAGCCTCCTGCTTCTTTATAGTTTCCCTAACAATGAGAAACATTGCTCCCCTTATCCTCAATACATTTACATCTGCTTATTCTCCCTGGATATGTAACCA... | TTCCTTTCAGTGGAGCATGGGGTTTAGACACCACAAGCTGGATGTGAGTGTGCTTATGGATCCTGAGGTATAACTGTCTCAGGCCTTTTCAGCAACAGTGCCAGGAAGTATATTTATGTATACATATACATGCACACACACATCTATATTTATTTCTATGTCTATCTGTACTAAAATCCATGAGTTTATACTGACATCTGCAATTCCATGGGGTTCAGTCTAGCCTCCTGCTTCTTTATAGTTTCCCTAACAATGAGAAACATTGCTCCCCTTATCCTCAATACATTTACATCTGCTTATTCTCCCTGGATATGTAACCA... | pathogenic | 216,859 |
Mutation at chromosome 13, position 102868182, within ERCC5: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Xeroderma_pigmentosum'] | TCCAGTGGAGTACTTCCTAAGGAGAAAGAGCTTATTGGTAATTTCAGTCAGACTAAATGCAGGCTTTTTGTAAACAAAACTCATTTGGATTATTAATATAAATCTATAAATGAAAAAACATTTTATAGGAGGAGTTGGAAACTCTGGAGAGCAACCTCTTAGCACAGCAGAATTCACTGAAAGCTCAAAAACAGCAGCAAGAACGGATCGCTGCTACTGTCACCGGACAGATGTTCCTGGAAAGCCAGGTGGGTGCAGGCAGCTTGGGTTTCCTTTACCACCTTCTTCAGACCCCTGGGGGAATGCACTGCATGAAGGGG... | TCCAGTGGAGTACTTCCTAAGGAGAAAGAGCTTATTGGTAATTTCAGTCAGACTAAATGCAGGCTTTTTGTAAACAAAACTCATTTGGATTATTAATATAAATCTATAAATGAAAAAACATTTTATAGGAGGAGTTGGAAACTCTGGAGAGCAACCTCTTAGCACAGCAGAATTCACTGAAAGCTCAAAAACAGCAGCAAGAACGGATCGCTGCTACTGTCACCGGACAGATGTTCCTGGAAAGCCAGGTGGGTGCAGGCAGCTTGGGTTTCCTTTACCACCTTCTTCAGACCCCTGGGGGAATGCACTGCATGAAGGGG... | pathogenic | 216,865 |
Does the variant on chromosome 13 at location 102872261 affecting gene ERCC5 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_3', 'Xeroderma_pigmentosum', 'Xeroderma_pigmentosum,_group_G'] | GTATTCTTCTCTTGAGCTTTAATTTTCAATTGGCTACCAACATTTACCTTTGGGAGATTTTACACAAAATTATGGATTCTGTTGGGGGAAAAAGGAGAGCTGAAAATACTGGGCCTGAATTTCTGGATAGCCCCAAAATAGCTGGCATGGAGCAACAGCAGTTCCCCTCCCCTACCCCAAGGCCTTGGACTGGGCATGAATCCTTCAGTTTCATCACAGTTGCCTCCACTCCCCCAGCTCAGCTGATTGACAGACACCTTCCTCCTTTCATCTTTATGTGAAGTGCCAGGCCCTCCTGCTTGAAGGAGTAACCATAGCTT... | GTATTCTTCTCTTGAGCTTTAATTTTCAATTGGCTACCAACATTTACCTTTGGGAGATTTTACACAAAATTATGGATTCTGTTGGGGGAAAAAGGAGAGCTGAAAATACTGGGCCTGAATTTCTGGATAGCCCCAAAATAGCTGGCATGGAGCAACAGCAGTTCCCCTCCCCTACCCCAAGGCCTTGGACTGGGCATGAATCCTTCAGTTTCATCACAGTTGCCTCCACTCCCCCAGCTCAGCTGATTGACAGACACCTTCCTCCTTTCATCTTTATGTGAAGTGCCAGGCCCTCCTGCTTGAAGGAGTAACCATAGCTT... | pathogenic | 216,868 |
Is the chromosome 13, position 102875580 variant in ERCC5 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TCTTAGGGCTGAACTTTGGAGTCCTTTCATATTCATTTTTTTCTTTGAAAAAACCAGTCTAATAACTGATTTCACACTAAGGTGTTTCTGATTAAATACATTACCCCTTGGGATTTACTTTCATTTTTTAACGAAAGGAAGTCTTCAAAGCAATTCTGATCATTTAAGTTTTTATAAGTACTAATATTTTTAAATTCTATAAACGAATCTTGAAAGGTAGAAGTTCAGTCATTATTGTGTATCAGTAGGAGAGGTTTTTGTGGGAAGGAGCCCTTTTGTATGACCTTTAGTTCCTCTAGGTACCTACTTCTTGCTTTATC... | TCTTAGGGCTGAACTTTGGAGTCCTTTCATATTCATTTTTTTCTTTGAAAAAACCAGTCTAATAACTGATTTCACACTAAGGTGTTTCTGATTAAATACATTACCCCTTGGGATTTACTTTCATTTTTTAACGAAAGGAAGTCTTCAAAGCAATTCTGATCATTTAAGTTTTTATAAGTACTAATATTTTTAAATTCTATAAACGAATCTTGAAAGGTAGAAGTTCAGTCATTATTGTGTATCAGTAGGAGAGGTTTTTGTGGGAAGGAGCCCTTTTGTATGACCTTTAGTTCCTCTAGGTACCTACTTCTTGCTTTATC... | benign | 216,877 |
Does the variant impacting SLC10A2 (solute carrier family 10 member 2) on chromosome 13, position 103051435, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ACGATGGTGGAACATAGCTGCGTGTTCTGCATCCCCGTTTCAAAAGCAACCGTTCGGCACCTAAAGAAGATGTTAAGAGAGCACATGTTTTAGTAGTTTTGTTATTGTGAAACATGAAAAGCAGATATAATAATAAGTACATATATATGCATTATGTCTCTGCTTTTAATGCATGTATTTAAGATAGGCTTATTCAATATATAACTTTCTATGGAATAAGTGTAATACTTATTAATGTATATTATACATCATCTCACCTATTGTATATAATATAAATAAATATATTTAATATGTGCATATGAAGAGTTGGCTCATTTACC... | ACGATGGTGGAACATAGCTGCGTGTTCTGCATCCCCGTTTCAAAAGCAACCGTTCGGCACCTAAAGAAGATGTTAAGAGAGCACATGTTTTAGTAGTTTTGTTATTGTGAAACATGAAAAGCAGATATAATAATAAGTACATATATATGCATTATGTCTCTGCTTTTAATGCATGTATTTAAGATAGGCTTATTCAATATATAACTTTCTATGGAATAAGTGTAATACTTATTAATGTATATTATACATCATCTCACCTATTGTATATAATATAAATAAATATATTTAATATGTGCATATGAAGAGTTGGCTCATTTACC... | benign | 216,886 |
Does the chromosome 13 mutation at position 108208529 within gene LIG4 (DNA ligase 4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | ATAATGGGCTACATAACAGGGCATTCAATGAAATATTGCACAACAATTTAAAATGATGGAGCTATATTTTAGAGAATTGTAAATATTTTCAAAATTCATTGAGAAAAGCTGATTAAATGAAACACATACTTTGCTTTATACATATGTGTTACACTAAATATTTATTTTGTACTTTTCTTAAGTTTAAAATTTTAAATACAGCTCATGGGTAATGTGAAATACAAAGACTCTTAAAGAGGAAGTAGATTGGCACCAGTCAAAAATTTTACTGACACCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGTACCTTGGG... | ATAATGGGCTACATAACAGGGCATTCAATGAAATATTGCACAACAATTTAAAATGATGGAGCTATATTTTAGAGAATTGTAAATATTTTCAAAATTCATTGAGAAAAGCTGATTAAATGAAACACATACTTTGCTTTATACATATGTGTTACACTAAATATTTATTTTGTACTTTTCTTAAGTTTAAAATTTTAAATACAGCTCATGGGTAATGTGAAATACAAAGACTCTTAAAGAGGAAGTAGATTGGCACCAGTCAAAAATTTTACTGACACCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGTACCTTGGG... | benign | 216,901 |
Classify the chromosome 13 variant at position 108208682 affecting gene LIG4 (DNA ligase 4) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['DNA_ligase_IV_deficiency', 'Multiple_myeloma'] | CTAAATATTTATTTTGTACTTTTCTTAAGTTTAAAATTTTAAATACAGCTCATGGGTAATGTGAAATACAAAGACTCTTAAAGAGGAAGTAGATTGGCACCAGTCAAAAATTTTACTGACACCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGTACCTTGGGAGGCCGAGGTGGGCAGAACACGAGATCAGGAGATCGAGACCATCCTGGCTAATATAGTGAAACCCCGTCTGTACTAAAAAATACAAAAAATTAGCCGGACATGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG... | CTAAATATTTATTTTGTACTTTTCTTAAGTTTAAAATTTTAAATACAGCTCATGGGTAATGTGAAATACAAAGACTCTTAAAGAGGAAGTAGATTGGCACCAGTCAAAAATTTTACTGACACCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGTACCTTGGGAGGCCGAGGTGGGCAGAACACGAGATCAGGAGATCGAGACCATCCTGGCTAATATAGTGAAACCCCGTCTGTACTAAAAAATACAAAAAATTAGCCGGACATGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG... | pathogenic | 216,902 |
Does the chromosome 13 mutation at position 108209364 within gene LIG4 (DNA ligase 4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['DNA_ligase_IV_deficiency', 'Inborn_genetic_diseases', 'LIG4-related_disorder', 'Multiple_myeloma'] | TCCAGCCTGGGCAACAGAGGGAGGCTCTGTCTCAAAAAAAAAAAAAAAAATTTTACTGACACCAAAAAAATCTATGTGATACAACTATTATGAATTGTTTTAAAAAGAATAGAACATAAGAAATTATTTTAATAGTGCATTAAATATTTTATTTAAATTAAGAAGTATAACAAAATCACATACATTTGTTCCACGGTTTGAATAAAATTTCCAATAACTTTCAAATAATGCACACATAGTATCGCATGGATCAAATTCCGTACATTTCAATATGGTCATGAGATAGGCTGTATTCCAAAATTTGGTATATAAATCCATAC... | TCCAGCCTGGGCAACAGAGGGAGGCTCTGTCTCAAAAAAAAAAAAAAAAATTTTACTGACACCAAAAAAATCTATGTGATACAACTATTATGAATTGTTTTAAAAAGAATAGAACATAAGAAATTATTTTAATAGTGCATTAAATATTTTATTTAAATTAAGAAGTATAACAAAATCACATACATTTGTTCCACGGTTTGAATAAAATTTCCAATAACTTTCAAATAATGCACACATAGTATCGCATGGATCAAATTCCGTACATTTCAATATGGTCATGAGATAGGCTGTATTCCAAAATTTGGTATATAAATCCATAC... | pathogenic | 216,909 |
Gene LIG4 (DNA ligase 4) variant at chromosome position 108209513 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['DNA_ligase_IV_deficiency'] | TATTTAAATTAAGAAGTATAACAAAATCACATACATTTGTTCCACGGTTTGAATAAAATTTCCAATAACTTTCAAATAATGCACACATAGTATCGCATGGATCAAATTCCGTACATTTCAATATGGTCATGAGATAGGCTGTATTCCAAAATTTGGTATATAAATCCATACATAATATATACTATATACATTGACTTTAAATAATCTAACTATGTCATTTTTAAAAGTCAAAGCAACTTATTTCTAATGAAAGTTACAATATGCATGCCATATTGACACCTATTCAATAGATAAAATCTAGGAAAATCTTTTTTGTGAAT... | TATTTAAATTAAGAAGTATAACAAAATCACATACATTTGTTCCACGGTTTGAATAAAATTTCCAATAACTTTCAAATAATGCACACATAGTATCGCATGGATCAAATTCCGTACATTTCAATATGGTCATGAGATAGGCTGTATTCCAAAATTTGGTATATAAATCCATACATAATATATACTATATACATTGACTTTAAATAATCTAACTATGTCATTTTTAAAAGTCAAAGCAACTTATTTCTAATGAAAGTTACAATATGCATGCCATATTGACACCTATTCAATAGATAAAATCTAGGAAAATCTTTTTTGTGAAT... | pathogenic | 216,911 |
Clinically, how would you classify the variant at chromosome 13, position 108209518, gene LIG4 (DNA ligase 4): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['DNA_ligase_IV_deficiency', 'Multiple_myeloma'] | AAATTAAGAAGTATAACAAAATCACATACATTTGTTCCACGGTTTGAATAAAATTTCCAATAACTTTCAAATAATGCACACATAGTATCGCATGGATCAAATTCCGTACATTTCAATATGGTCATGAGATAGGCTGTATTCCAAAATTTGGTATATAAATCCATACATAATATATACTATATACATTGACTTTAAATAATCTAACTATGTCATTTTTAAAAGTCAAAGCAACTTATTTCTAATGAAAGTTACAATATGCATGCCATATTGACACCTATTCAATAGATAAAATCTAGGAAAATCTTTTTTGTGAATACTAT... | AAATTAAGAAGTATAACAAAATCACATACATTTGTTCCACGGTTTGAATAAAATTTCCAATAACTTTCAAATAATGCACACATAGTATCGCATGGATCAAATTCCGTACATTTCAATATGGTCATGAGATAGGCTGTATTCCAAAATTTGGTATATAAATCCATACATAATATATACTATATACATTGACTTTAAATAATCTAACTATGTCATTTTTAAAAGTCAAAGCAACTTATTTCTAATGAAAGTTACAATATGCATGCCATATTGACACCTATTCAATAGATAAAATCTAGGAAAATCTTTTTTGTGAATACTAT... | pathogenic | 216,912 |
Considering the variant on chromosome 13, location 108209755, involving gene LIG4 (DNA ligase 4), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['DNA_ligase_IV_deficiency'] | TCTAATGAAAGTTACAATATGCATGCCATATTGACACCTATTCAATAGATAAAATCTAGGAAAATCTTTTTTGTGAATACTATTTATACTGGAATGCAAATTCACATAAAAATACTTCCTTTAAAGCATGTTCTATTTCACACAAGAAATTAAATGTGAGCTACTTTTAAAATTGCAAGCTTTATTTTTAATCAAACCAATTCAATTTTAAGTTTTTAGATCATTAAGTCTCATACAACTTCCTCTAATTTAGCTAAAACCATCGACAGGGTTTTATTGTTACATTTGGCCTTAACCTTAAAAAACAAATTTGTTTACAT... | TCTAATGAAAGTTACAATATGCATGCCATATTGACACCTATTCAATAGATAAAATCTAGGAAAATCTTTTTTGTGAATACTATTTATACTGGAATGCAAATTCACATAAAAATACTTCCTTTAAAGCATGTTCTATTTCACACAAGAAATTAAATGTGAGCTACTTTTAAAATTGCAAGCTTTATTTTTAATCAAACCAATTCAATTTTAAGTTTTTAGATCATTAAGTCTCATACAACTTCCTCTAATTTAGCTAAAACCATCGACAGGGTTTTATTGTTACATTTGGCCTTAACCTTAAAAAACAAATTTGTTTACAT... | pathogenic | 216,918 |
Does the variant on chromosome 13 at location 108209755 affecting gene LIG4 (DNA ligase 4) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['DNA_ligase_IV_deficiency', 'Multiple_myeloma', 'prenatal_LIG4_syndrome_with_aqueductal_stenosis'] | TCTAATGAAAGTTACAATATGCATGCCATATTGACACCTATTCAATAGATAAAATCTAGGAAAATCTTTTTTGTGAATACTATTTATACTGGAATGCAAATTCACATAAAAATACTTCCTTTAAAGCATGTTCTATTTCACACAAGAAATTAAATGTGAGCTACTTTTAAAATTGCAAGCTTTATTTTTAATCAAACCAATTCAATTTTAAGTTTTTAGATCATTAAGTCTCATACAACTTCCTCTAATTTAGCTAAAACCATCGACAGGGTTTTATTGTTACATTTGGCCTTAACCTTAAAAAACAAATTTGTTTACAT... | TCTAATGAAAGTTACAATATGCATGCCATATTGACACCTATTCAATAGATAAAATCTAGGAAAATCTTTTTTGTGAATACTATTTATACTGGAATGCAAATTCACATAAAAATACTTCCTTTAAAGCATGTTCTATTTCACACAAGAAATTAAATGTGAGCTACTTTTAAAATTGCAAGCTTTATTTTTAATCAAACCAATTCAATTTTAAGTTTTTAGATCATTAAGTCTCATACAACTTCCTCTAATTTAGCTAAAACCATCGACAGGGTTTTATTGTTACATTTGGCCTTAACCTTAAAAAACAAATTTGTTTACAT... | pathogenic | 216,919 |
Is the variant located on chromosome 13 at position 108209993, gene LIG4 (DNA ligase 4), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['DNA_ligase_IV_deficiency', 'LIG4-related_disorder', 'Multiple_myeloma'] | CTTCCTCTAATTTAGCTAAAACCATCGACAGGGTTTTATTGTTACATTTGGCCTTAACCTTAAAAAACAAATTTGTTTACATTTCATATTTAAATGGGACATTTTAAACCCTGAGTAAAAAGACATATTTTTACAAGTCCAGCTGTAACAATTCTACCCTATTTTCTTGCAGTGCTTTTATTAGATAAAAACTATTGTTAACGTTTTGACTTTTTAGAATATACTGTTTAGAAGGTTAATGCTTTTTCATGACTTTAAAAGTTTCTAAATGTATTTTATTAGTATCTAAGTAAAAATTCTAGATTTCTATATGGATATTA... | CTTCCTCTAATTTAGCTAAAACCATCGACAGGGTTTTATTGTTACATTTGGCCTTAACCTTAAAAAACAAATTTGTTTACATTTCATATTTAAATGGGACATTTTAAACCCTGAGTAAAAAGACATATTTTTACAAGTCCAGCTGTAACAATTCTACCCTATTTTCTTGCAGTGCTTTTATTAGATAAAAACTATTGTTAACGTTTTGACTTTTTAGAATATACTGTTTAGAAGGTTAATGCTTTTTCATGACTTTAAAAGTTTCTAAATGTATTTTATTAGTATCTAAGTAAAAATTCTAGATTTCTATATGGATATTA... | pathogenic | 216,921 |
Variant in LIG4 (DNA ligase 4), chromosome 13, position 108210123—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['DNA_ligase_IV_deficiency'] | TTACAAGTCCAGCTGTAACAATTCTACCCTATTTTCTTGCAGTGCTTTTATTAGATAAAAACTATTGTTAACGTTTTGACTTTTTAGAATATACTGTTTAGAAGGTTAATGCTTTTTCATGACTTTAAAAGTTTCTAAATGTATTTTATTAGTATCTAAGTAAAAATTCTAGATTTCTATATGGATATTATAAAAACACCTCTTCTTTAGACTGTTTATTTCACCTTGATCATAAAAAATCATTGAATACTACATTCAAGATAATTTTTCTTTCTTGGCTTTGGGCTATTGTCTTTTCAACCTTAAAAGTTAAAATTATT... | TTACAAGTCCAGCTGTAACAATTCTACCCTATTTTCTTGCAGTGCTTTTATTAGATAAAAACTATTGTTAACGTTTTGACTTTTTAGAATATACTGTTTAGAAGGTTAATGCTTTTTCATGACTTTAAAAGTTTCTAAATGTATTTTATTAGTATCTAAGTAAAAATTCTAGATTTCTATATGGATATTATAAAAACACCTCTTCTTTAGACTGTTTATTTCACCTTGATCATAAAAAATCATTGAATACTACATTCAAGATAATTTTTCTTTCTTGGCTTTGGGCTATTGTCTTTTCAACCTTAAAAGTTAAAATTATT... | pathogenic | 216,922 |
Variant chromosome 13, position 108210385, gene LIG4 (DNA ligase 4): benign or pathogenic? Disease(s)? | pathogenic; ['DNA_ligase_IV_deficiency', 'Multiple_myeloma'] | AATTTTTCTTTCTTGGCTTTGGGCTATTGTCTTTTCAACCTTAAAAGTTAAAATTATTGTTTTCCTATATGTAATGATACTTTTTAGGCATAGATTTTTAAGATACAAAAATAAAATGTAGTTTAGTATTTTATCATTACCACCTGCTGCAATGAGTCTGCCAGATCAGAGGCTTTCCTCACTAGGAAACCTAGCTTTAAATCAAATACTGGTTTTCTTCTTGTAATTCACACTTGTCTATTGAATCAGTTACCCAACTTTCTTTTAGGATTTTAAACTTTCTCTTAAAAGTTCTTCTAAAAGCTTTAAAATCTGCAACA... | AATTTTTCTTTCTTGGCTTTGGGCTATTGTCTTTTCAACCTTAAAAGTTAAAATTATTGTTTTCCTATATGTAATGATACTTTTTAGGCATAGATTTTTAAGATACAAAAATAAAATGTAGTTTAGTATTTTATCATTACCACCTGCTGCAATGAGTCTGCCAGATCAGAGGCTTTCCTCACTAGGAAACCTAGCTTTAAATCAAATACTGGTTTTCTTCTTGTAATTCACACTTGTCTATTGAATCAGTTACCCAACTTTCTTTTAGGATTTTAAACTTTCTCTTAAAAGTTCTTCTAAAAGCTTTAAAATCTGCAACA... | pathogenic | 216,925 |
The mutation in gene LIG4 (DNA ligase 4) at chromosome 13, position 108210468—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['DNA_ligase_IV_deficiency'] | TTAGGCATAGATTTTTAAGATACAAAAATAAAATGTAGTTTAGTATTTTATCATTACCACCTGCTGCAATGAGTCTGCCAGATCAGAGGCTTTCCTCACTAGGAAACCTAGCTTTAAATCAAATACTGGTTTTCTTCTTGTAATTCACACTTGTCTATTGAATCAGTTACCCAACTTTCTTTTAGGATTTTAAACTTTCTCTTAAAAGTTCTTCTAAAAGCTTTAAAATCTGCAACACGACTATGATCTTCCCCAATTATTACATGAGACACTCCCTCAGCTAAACAAGAAACTACTTTTGCTCCATGAAACCGAAGCTC... | TTAGGCATAGATTTTTAAGATACAAAAATAAAATGTAGTTTAGTATTTTATCATTACCACCTGCTGCAATGAGTCTGCCAGATCAGAGGCTTTCCTCACTAGGAAACCTAGCTTTAAATCAAATACTGGTTTTCTTCTTGTAATTCACACTTGTCTATTGAATCAGTTACCCAACTTTCTTTTAGGATTTTAAACTTTCTCTTAAAAGTTCTTCTAAAAGCTTTAAAATCTGCAACACGACTATGATCTTCCCCAATTATTACATGAGACACTCCCTCAGCTAAACAAGAAACTACTTTTGCTCCATGAAACCGAAGCTC... | pathogenic | 216,933 |
Is the genetic change at chromosome 13, position 108210543, within gene LIG4 (DNA ligase 4) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['DNA_ligase_IV_deficiency', 'Multiple_myeloma'] | TGCCAGATCAGAGGCTTTCCTCACTAGGAAACCTAGCTTTAAATCAAATACTGGTTTTCTTCTTGTAATTCACACTTGTCTATTGAATCAGTTACCCAACTTTCTTTTAGGATTTTAAACTTTCTCTTAAAAGTTCTTCTAAAAGCTTTAAAATCTGCAACACGACTATGATCTTCCCCAATTATTACATGAGACACTCCCTCAGCTAAACAAGAAACTACTTTTGCTCCATGAAACCGAAGCTCCAAGGCTTTAATAGCTAACCTTGTCCCCTCATTTTTGGTACTCAGGTCATTAATAACAGCATACGAGTCCAAATA... | TGCCAGATCAGAGGCTTTCCTCACTAGGAAACCTAGCTTTAAATCAAATACTGGTTTTCTTCTTGTAATTCACACTTGTCTATTGAATCAGTTACCCAACTTTCTTTTAGGATTTTAAACTTTCTCTTAAAAGTTCTTCTAAAAGCTTTAAAATCTGCAACACGACTATGATCTTCCCCAATTATTACATGAGACACTCCCTCAGCTAAACAAGAAACTACTTTTGCTCCATGAAACCGAAGCTCCAAGGCTTTAATAGCTAACCTTGTCCCCTCATTTTTGGTACTCAGGTCATTAATAACAGCATACGAGTCCAAATA... | pathogenic | 216,935 |
Regarding the variant at chromosome 13 and position 108210655, affecting gene LIG4 (DNA ligase 4): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['DNA_ligase_IV_deficiency', 'Inborn_genetic_diseases', 'Multiple_myeloma'] | TTTTAAACTTTCTCTTAAAAGTTCTTCTAAAAGCTTTAAAATCTGCAACACGACTATGATCTTCCCCAATTATTACATGAGACACTCCCTCAGCTAAACAAGAAACTACTTTTGCTCCATGAAACCGAAGCTCCAAGGCTTTAATAGCTAACCTTGTCCCCTCATTTTTGGTACTCAGGTCATTAATAACAGCATACGAGTCCAAATAAACGGTGTGGCGTCGAAACATACTGAGAGGAGAGCAATCCCAGGAATACCGATATTCTAAATCAGCAATCAGAGAAGCCATTTCTTCAGGAGTCTGCTCGTTAGAATTTTTA... | TTTTAAACTTTCTCTTAAAAGTTCTTCTAAAAGCTTTAAAATCTGCAACACGACTATGATCTTCCCCAATTATTACATGAGACACTCCCTCAGCTAAACAAGAAACTACTTTTGCTCCATGAAACCGAAGCTCCAAGGCTTTAATAGCTAACCTTGTCCCCTCATTTTTGGTACTCAGGTCATTAATAACAGCATACGAGTCCAAATAAACGGTGTGGCGTCGAAACATACTGAGAGGAGAGCAATCCCAGGAATACCGATATTCTAAATCAGCAATCAGAGAAGCCATTTCTTCAGGAGTCTGCTCGTTAGAATTTTTA... | pathogenic | 216,936 |
Benign or pathogenic: chromosome 13, position 108210668, gene LIG4 (DNA ligase 4) variant? Disease(s) if pathogenic? | pathogenic; ['DNA_ligase_IV_deficiency', 'Multiple_myeloma'] | CTTAAAAGTTCTTCTAAAAGCTTTAAAATCTGCAACACGACTATGATCTTCCCCAATTATTACATGAGACACTCCCTCAGCTAAACAAGAAACTACTTTTGCTCCATGAAACCGAAGCTCCAAGGCTTTAATAGCTAACCTTGTCCCCTCATTTTTGGTACTCAGGTCATTAATAACAGCATACGAGTCCAAATAAACGGTGTGGCGTCGAAACATACTGAGAGGAGAGCAATCCCAGGAATACCGATATTCTAAATCAGCAATCAGAGAAGCCATTTCTTCAGGAGTCTGCTCGTTAGAATTTTTAATTCCTGAGAATA... | CTTAAAAGTTCTTCTAAAAGCTTTAAAATCTGCAACACGACTATGATCTTCCCCAATTATTACATGAGACACTCCCTCAGCTAAACAAGAAACTACTTTTGCTCCATGAAACCGAAGCTCCAAGGCTTTAATAGCTAACCTTGTCCCCTCATTTTTGGTACTCAGGTCATTAATAACAGCATACGAGTCCAAATAAACGGTGTGGCGTCGAAACATACTGAGAGGAGAGCAATCCCAGGAATACCGATATTCTAAATCAGCAATCAGAGAAGCCATTTCTTCAGGAGTCTGCTCGTTAGAATTTTTAATTCCTGAGAATA... | pathogenic | 216,937 |
Variant at chromosome 13, position 110152510, gene COL4A1 (collagen type IV alpha 1 chain): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GACAGACCATTGGCCATCATCTCACAGCACGTCAGAAACATGGCACTCCTGCCCTGCTCGGAAATCTCTAAGGGATCAGCCCAGCCCCTGGCATCAGGCCTCAACCTGGTACCACCCAGTGAGCAGGCAGGTGCTGGGTGCAGTGCACACACGGTCCCACGCACACAGAACACTGCAGGTTACCAGCTGCACACCCAGGCCCTGGCACCTGCCCCAGTGCCCACAGCCCCATAGGGCACAGCTGAAGTCCCGCCACATCAGTCTGGCTCCGAAGCCTTGGCCATTCCCCTCTGTGCCACCCTGCCTCCTCGTACTACAAT... | GACAGACCATTGGCCATCATCTCACAGCACGTCAGAAACATGGCACTCCTGCCCTGCTCGGAAATCTCTAAGGGATCAGCCCAGCCCCTGGCATCAGGCCTCAACCTGGTACCACCCAGTGAGCAGGCAGGTGCTGGGTGCAGTGCACACACGGTCCCACGCACACAGAACACTGCAGGTTACCAGCTGCACACCCAGGCCCTGGCACCTGCCCCAGTGCCCACAGCCCCATAGGGCACAGCTGAAGTCCCGCCACATCAGTCTGGCTCCGAAGCCTTGGCCATTCCCCTCTGTGCCACCCTGCCTCCTCGTACTACAAT... | benign | 216,996 |
Chromosome 13, position 110170532, gene COL4A1 (collagen type IV alpha 1 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ACAAGGAATGGGTAAACATGACTGTTGCTACTCCTTATAGCCAGTTCTGCATAATTATTTATAAGCATTTCATAACTTACTGATTCAGAAGTAAATCAGCACCACGTATTGTTTTGCACCCAGCAAGCTTAGCTATTCTGTATCCATCCTTGAGAAAGTAGTCTGATGACTCTAAGATATGTCTCTGCTGCTGATGAGCAGTTCAAAGCTTTCCCTTTAAGGGAGAACATGTGTTGACTTACAGAAGAACCCCGCTTGCTCCAACATAACTGCAGAGGTCTGTCTCAAATCCCTCCTATTCATGATCTCCCCTGATATAC... | ACAAGGAATGGGTAAACATGACTGTTGCTACTCCTTATAGCCAGTTCTGCATAATTATTTATAAGCATTTCATAACTTACTGATTCAGAAGTAAATCAGCACCACGTATTGTTTTGCACCCAGCAAGCTTAGCTATTCTGTATCCATCCTTGAGAAAGTAGTCTGATGACTCTAAGATATGTCTCTGCTGCTGATGAGCAGTTCAAAGCTTTCCCTTTAAGGGAGAACATGTGTTGACTTACAGAAGAACCCCGCTTGCTCCAACATAACTGCAGAGGTCTGTCTCAAATCCCTCCTATTCATGATCTCCCCTGATATAC... | benign | 217,060 |
Variant on chromosome 13, at position 110173924, affecting COL4A1 (collagen type IV alpha 1 chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | GAGGGAAGTGTCCATTCCCAAGGCAGCCCACCCGGCACCAGGCCATCCTTCTCAACCCAGGGGTTCCCAGTGTCAGACTACATGCCTGCCAAGGAAACACTCTGGGCTGGTCTCGGGGAGAACCAGGGGGTGGGAGAAACAACACCTCCGTGCCCCTGCTCCTTCTCAGCTGAAGTCCAAGGCCTTCCAGGGCTTTCTGAATCCTCCCACTGAGTGGGATCACTCAGCCAGCCCAGCCACGGGCCATAAGCATGCCCATGGATGCTGTGTGTGAGCTCCTGGCTGCGGCCACCTGTGGCTTCTCTTCAGTGTCGTGCAGC... | GAGGGAAGTGTCCATTCCCAAGGCAGCCCACCCGGCACCAGGCCATCCTTCTCAACCCAGGGGTTCCCAGTGTCAGACTACATGCCTGCCAAGGAAACACTCTGGGCTGGTCTCGGGGAGAACCAGGGGGTGGGAGAAACAACACCTCCGTGCCCCTGCTCCTTCTCAGCTGAAGTCCAAGGCCTTCCAGGGCTTTCTGAATCCTCCCACTGAGTGGGATCACTCAGCCAGCCCAGCCACGGGCCATAAGCATGCCCATGGATGCTGTGTGTGAGCTCCTGGCTGCGGCCACCTGTGGCTTCTCTTCAGTGTCGTGCAGC... | pathogenic | 217,076 |
Gene mutation in COL4A1 (collagen type IV alpha 1 chain) at chromosome 13, position 110174532—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GTCCAAGTAAAAGATAATTCTGATCATGAGTGTACTGCACGCCATTTTGATCCATTAATTAGAAGGGAACCACATGTGTCTTGCAGGCATTGCCCTCTGGGCTCAGCACCCATCCTCCATCCCGTTGCTGCCTGGCCAACAGGCATGGGGCTTCATCCTGAAGACACTGCCCCTTGTTCTGCTAATCAGGCAGCAGCGGTTGGTTGAAAAGGAAGAGCACAGTGAGCAAAGATTACCTTTGTCTCCTTTGGCCCCTGGAAACCCTGGGAATCCTCTTCCTGGTAGACCTATAAGATGAGGGTAAAATGCCACGTTTCTCT... | GTCCAAGTAAAAGATAATTCTGATCATGAGTGTACTGCACGCCATTTTGATCCATTAATTAGAAGGGAACCACATGTGTCTTGCAGGCATTGCCCTCTGGGCTCAGCACCCATCCTCCATCCCGTTGCTGCCTGGCCAACAGGCATGGGGCTTCATCCTGAAGACACTGCCCCTTGTTCTGCTAATCAGGCAGCAGCGGTTGGTTGAAAAGGAAGAGCACAGTGAGCAAAGATTACCTTTGTCTCCTTTGGCCCCTGGAAACCCTGGGAATCCTCTTCCTGGTAGACCTATAAGATGAGGGTAAAATGCCACGTTTCTCT... | benign | 217,082 |
Variant on chromosome 13, at position 110174614, affecting COL4A1 (collagen type IV alpha 1 chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCAGGCATTGCCCTCTGGGCTCAGCACCCATCCTCCATCCCGTTGCTGCCTGGCCAACAGGCATGGGGCTTCATCCTGAAGACACTGCCCCTTGTTCTGCTAATCAGGCAGCAGCGGTTGGTTGAAAAGGAAGAGCACAGTGAGCAAAGATTACCTTTGTCTCCTTTGGCCCCTGGAAACCCTGGGAATCCTCTTCCTGGTAGACCTATAAGATGAGGGTAAAATGCCACGTTTCTCTTTACTTAAACAATCCATCTGCAGGTACAACACAAAGCACTATCAACTCTGCAATAATACTACGTATATTGTGGAGTACATAG... | GCAGGCATTGCCCTCTGGGCTCAGCACCCATCCTCCATCCCGTTGCTGCCTGGCCAACAGGCATGGGGCTTCATCCTGAAGACACTGCCCCTTGTTCTGCTAATCAGGCAGCAGCGGTTGGTTGAAAAGGAAGAGCACAGTGAGCAAAGATTACCTTTGTCTCCTTTGGCCCCTGGAAACCCTGGGAATCCTCTTCCTGGTAGACCTATAAGATGAGGGTAAAATGCCACGTTTCTCTTTACTTAAACAATCCATCTGCAGGTACAACACAAAGCACTATCAACTCTGCAATAATACTACGTATATTGTGGAGTACATAG... | benign | 217,084 |
The mutation in gene COL4A1 (collagen type IV alpha 1 chain) at chromosome 13, position 110177934—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GGGCTTCCCATCTGAACTCTCCCCCTTTCTGAGTGAGCTCTGAGGACCATCACCACCCAGCCCTTCCCGCACTCTCCTCCTCTTCCCGGCTGCTCTCACTACAATAGACACTGATGGCAAAGCATTAAGGCTAGTCCGGGATTGGAGCAGAGGAGTCCGGAGAATTCTTCTGAACTAACACAAAGGGCTCTGGAGCCATAAGCTACTCAGGCTGACAAGCCTGGATGGAGAAGCCGTCGTCTCTTAGGGAGATCCTAGACAAGGGGATGGTCACTTGGAGATCATCAAAAGTTGACTGTATACAGCCCATGTTTTATTCC... | GGGCTTCCCATCTGAACTCTCCCCCTTTCTGAGTGAGCTCTGAGGACCATCACCACCCAGCCCTTCCCGCACTCTCCTCCTCTTCCCGGCTGCTCTCACTACAATAGACACTGATGGCAAAGCATTAAGGCTAGTCCGGGATTGGAGCAGAGGAGTCCGGAGAATTCTTCTGAACTAACACAAAGGGCTCTGGAGCCATAAGCTACTCAGGCTGACAAGCCTGGATGGAGAAGCCGTCGTCTCTTAGGGAGATCCTAGACAAGGGGATGGTCACTTGGAGATCATCAAAAGTTGACTGTATACAGCCCATGTTTTATTCC... | benign | 217,116 |
Located at chromosome 13 position 110179338, the variant affecting gene COL4A1 (collagen type IV alpha 1 chain)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_dominant_familial_hematuria-retinal_arteriolar_tortuosity-contractures_syndrome', 'Brain_small_vessel_disease_1_with_or_without_ocular_anomalies', 'Hemorrhage,_intracerebral,_susceptibility_to', 'Microangiopathy_and_leukoencephalopathy,_pontine,_autosomal_dominant', 'Retinal_arterial_tortuosity'... | GTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTCCACCATTTCTCACAAGAAGAATCTCATCTGTGCCAAGAAG... | GTTTAGATAACTTACATTTCTCTCCTTCCTACATATCTTTATCACTCTTATTCATAGTGCCCCTCAGTTCTATACAAAATAATAGAACAGGAATTTTATCATTCTACAAAACAAATGACCTTTTCATGTGTCATATTTACAGTATTTCTTTGTAAAAGACATTATTTTGGAACAACTTCAAATAACGATAAGAAATAAAGACGAAGCCTTGTAAACTTGCGCAGGTTGTTAATCTGAGCCTAAGGACTCGGTCCCTGTATCTTGGCATGGCTGAAGATTCCACCATTTCTCACAAGAAGAATCTCATCTGTGCCAAGAAG... | pathogenic | 217,136 |
A genetic variant at chromosome 13, position 110181404, affecting gene COL4A1 (collagen type IV alpha 1 chain)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TGTGCCAGGAATGCCGGGAAGACCTGGCAAACCTTTGAGTCCCGGTAGACCAACTCCAGGCTCTCCCTGAAAATCCCCAAAGCACAGAGAAGCAAATTGATTTGCAAAGTCAGTATTTTTATCAAACCAATAGCGTAAGTGAAGACTTAACAGATACTGCCAATGCATTTAGTAAGAATATTATCTGCTCAACCCTTTTCAAGCGTTTGCAAAGCTTCCTCATACCTATTATATCTTTTCAATCTCACCACAAGCCCCATAGGTGGGTAACTTTCATTGTTTTCATTTTACAAAGGAGGAAAAGCAAGGCTCCCCACGGA... | TGTGCCAGGAATGCCGGGAAGACCTGGCAAACCTTTGAGTCCCGGTAGACCAACTCCAGGCTCTCCCTGAAAATCCCCAAAGCACAGAGAAGCAAATTGATTTGCAAAGTCAGTATTTTTATCAAACCAATAGCGTAAGTGAAGACTTAACAGATACTGCCAATGCATTTAGTAAGAATATTATCTGCTCAACCCTTTTCAAGCGTTTGCAAAGCTTCCTCATACCTATTATATCTTTTCAATCTCACCACAAGCCCCATAGGTGGGTAACTTTCATTGTTTTCATTTTACAAAGGAGGAAAAGCAAGGCTCCCCACGGA... | benign | 217,147 |
Gene COL4A1 (collagen type IV alpha 1 chain) variant at chromosome 13, position 110181404—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TGTGCCAGGAATGCCGGGAAGACCTGGCAAACCTTTGAGTCCCGGTAGACCAACTCCAGGCTCTCCCTGAAAATCCCCAAAGCACAGAGAAGCAAATTGATTTGCAAAGTCAGTATTTTTATCAAACCAATAGCGTAAGTGAAGACTTAACAGATACTGCCAATGCATTTAGTAAGAATATTATCTGCTCAACCCTTTTCAAGCGTTTGCAAAGCTTCCTCATACCTATTATATCTTTTCAATCTCACCACAAGCCCCATAGGTGGGTAACTTTCATTGTTTTCATTTTACAAAGGAGGAAAAGCAAGGCTCCCCACGGA... | TGTGCCAGGAATGCCGGGAAGACCTGGCAAACCTTTGAGTCCCGGTAGACCAACTCCAGGCTCTCCCTGAAAATCCCCAAAGCACAGAGAAGCAAATTGATTTGCAAAGTCAGTATTTTTATCAAACCAATAGCGTAAGTGAAGACTTAACAGATACTGCCAATGCATTTAGTAAGAATATTATCTGCTCAACCCTTTTCAAGCGTTTGCAAAGCTTCCTCATACCTATTATATCTTTTCAATCTCACCACAAGCCCCATAGGTGGGTAACTTTCATTGTTTTCATTTTACAAAGGAGGAAAAGCAAGGCTCCCCACGGA... | benign | 217,148 |
Is the genetic mutation found on chromosome 13 at position 110192244, within the gene COL4A1 (collagen type IV alpha 1 chain), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_dominant_familial_hematuria-retinal_arteriolar_tortuosity-contractures_syndrome', 'Brain_small_vessel_disease_1_with_or_without_ocular_anomalies', 'Hemorrhage,_intracerebral,_susceptibility_to', 'Microangiopathy_and_leukoencephalopathy,_pontine,_autosomal_dominant', 'Retinal_arterial_tortuosity'... | GACATCTCGTGTGCTTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTGTGATTCATTATTCTTTCCCCAA... | GACATCTCGTGTGCTTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTGTGATTCATTATTCTTTCCCCAA... | pathogenic | 217,180 |
Mutation at chromosome 13, position 110195134, within COL4A1: benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AGTCAAACGCACGTCCCTGTCTGTCAATGAACGGGCCCACTGCCCCCAGCACGCGTCACGTGTGACCACAGACGCACTGCTTAAAGATCCAAGTTCTTCTCCCAGCGAAAAGACAGGGCTGCCTCAGTAAAAAGTGGTCCAGAAATTCAACTGTGCCTATCAGCCTGAAAAGACTTGACTTTTGTAATTTGTCTGTAATGTGAAAACTACCCATCCCCTTTCTCTTTGGTTGAGTGCTTAGTCCAGTTCATGGACTTCACTGGTTGGTGGACTTGGGAATAAGAAGCCACAAAAGCAAGAACACATATGTGATCCAGGAC... | AGTCAAACGCACGTCCCTGTCTGTCAATGAACGGGCCCACTGCCCCCAGCACGCGTCACGTGTGACCACAGACGCACTGCTTAAAGATCCAAGTTCTTCTCCCAGCGAAAAGACAGGGCTGCCTCAGTAAAAAGTGGTCCAGAAATTCAACTGTGCCTATCAGCCTGAAAAGACTTGACTTTTGTAATTTGTCTGTAATGTGAAAACTACCCATCCCCTTTCTCTTTGGTTGAGTGCTTAGTCCAGTTCATGGACTTCACTGGTTGGTGGACTTGGGAATAAGAAGCCACAAAAGCAAGAACACATATGTGATCCAGGAC... | benign | 217,203 |
Does the genetic variant at chromosome 13, position 110200897, impacting gene COL4A1 (collagen type IV alpha 1 chain), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GACTCATTACGTAGATATTAAAATCTGTGAATTTCTCTCAGTGCAAATAGTATTCCCAACATATTTTAAAAAGGCTGTAGAGGGTGCACTGCATTTCTACTTGGCCAATGAGGGCATAGAAATGTCATTCAACAAAGCTAAAGTGGACCTGGAGCAAAGGGATGGTCAGTGGGTTGGCAATCTAGAAGAAAGAGCAGAAAATCACAACTAAGGACACACAAGATGGTTCTGTAAAAGGGTTTGAAGTCAGAGTAGCCATTAGGTGTGAACATATCAGGTCAGGTTCAGCCACTGTAACTCTGTAAGGGTAAGACCATGTG... | GACTCATTACGTAGATATTAAAATCTGTGAATTTCTCTCAGTGCAAATAGTATTCCCAACATATTTTAAAAAGGCTGTAGAGGGTGCACTGCATTTCTACTTGGCCAATGAGGGCATAGAAATGTCATTCAACAAAGCTAAAGTGGACCTGGAGCAAAGGGATGGTCAGTGGGTTGGCAATCTAGAAGAAAGAGCAGAAAATCACAACTAAGGACACACAAGATGGTTCTGTAAAAGGGTTTGAAGTCAGAGTAGCCATTAGGTGTGAACATATCAGGTCAGGTTCAGCCACTGTAACTCTGTAAGGGTAAGACCATGTG... | benign | 217,213 |
A genetic alteration at chromosome 13, position 110203610, in gene COL4A1 (collagen type IV alpha 1 chain)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GAATGGCTAGTCCTGTATAGTAAAGCAGTATGAGTGAAGAAATGTACATATTTGTTTTTATTTCAAGAAATATGAAAGTGAAGTAGCAGCAATGGTAGCGGACAAGGAGGAAGGGGATAAGCCTCTAAAACATATGGGACAGGCCGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGTCAATATGGTGAAACCCCGACTCTACTAAAAATACAAAAATTAGTCGGGCGTGGTGGCATATGCCTGTAATCCCAGCTACTTGGGAGGC... | GAATGGCTAGTCCTGTATAGTAAAGCAGTATGAGTGAAGAAATGTACATATTTGTTTTTATTTCAAGAAATATGAAAGTGAAGTAGCAGCAATGGTAGCGGACAAGGAGGAAGGGGATAAGCCTCTAAAACATATGGGACAGGCCGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGTCAATATGGTGAAACCCCGACTCTACTAAAAATACAAAAATTAGTCGGGCGTGGTGGCATATGCCTGTAATCCCAGCTACTTGGGAGGC... | benign | 217,225 |
Chromosome 13, position 110209387, gene COL4A1 (collagen type IV alpha 1 chain): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CTTTATCTTTTGGAATTTGTCCAAAATTAGAAAATCAGTATTCACTGATGAAGCCCACTCATACCTTTTCTCCCTTGGTGGCGAAGTCTCCTTTTTCTTGAACTTGAGCTTGTCCTGGTACTCCTGGAGGCCCACTGACCCCTTGGTCACCCTGTCGACATAAAAATGTAAAATTAATTAGGCATGAAAACAATTATGCAGACATGAAAAATTGCAGAGAGAGGTAAAAGCCTAAAATAAAACACCTATTTTTAAAATGTAATTATACTCTATTCTGTTCTAATCATCCTTGCCTCTGCAGAAAATCAAATTTCAATAGG... | CTTTATCTTTTGGAATTTGTCCAAAATTAGAAAATCAGTATTCACTGATGAAGCCCACTCATACCTTTTCTCCCTTGGTGGCGAAGTCTCCTTTTTCTTGAACTTGAGCTTGTCCTGGTACTCCTGGAGGCCCACTGACCCCTTGGTCACCCTGTCGACATAAAAATGTAAAATTAATTAGGCATGAAAACAATTATGCAGACATGAAAAATTGCAGAGAGAGGTAAAAGCCTAAAATAAAACACCTATTTTTAAAATGTAATTATACTCTATTCTGTTCTAATCATCCTTGCCTCTGCAGAAAATCAAATTTCAATAGG... | benign | 217,266 |
The mutation in gene COL4A1 (collagen type IV alpha 1 chain) at chromosome 13, position 110211627—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TAGCAGGTGCAGGACCCTCAGGTGTGACCATACCAATACCAATCCATCTCCCCTGCTCCCTGGTGAAGTCACCTGGGGCACAGCCTGTCTGTCCATCTTTGAACTCACTCCCACAGGCTGTGACTATCAGCAGTACCCCGCCAGCCCCTTCAACCATGACTGCATTATTTGTTTCAGGGTATCAGTTTATGGTACTATCATCATCCCTTTCCCACAGCTCTGGGTATATGGGTACCGGGATGCCAGCCAAACGTTTAGTAAGAGGGAAGCTGATTCCGCCATGTCCAAATTAAGAGCGACCACAACTGTGTAAAGTTTTT... | TAGCAGGTGCAGGACCCTCAGGTGTGACCATACCAATACCAATCCATCTCCCCTGCTCCCTGGTGAAGTCACCTGGGGCACAGCCTGTCTGTCCATCTTTGAACTCACTCCCACAGGCTGTGACTATCAGCAGTACCCCGCCAGCCCCTTCAACCATGACTGCATTATTTGTTTCAGGGTATCAGTTTATGGTACTATCATCATCCCTTTCCCACAGCTCTGGGTATATGGGTACCGGGATGCCAGCCAAACGTTTAGTAAGAGGGAAGCTGATTCCGCCATGTCCAAATTAAGAGCGACCACAACTGTGTAAAGTTTTT... | benign | 217,284 |
Located at chromosome 13 position 110503963, the variant affecting gene COL4A2—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CCATGATGGCTCCTCCTGTGTCATTTCCATCACCTGCACGACCTGGTCCCTGGGAAGCTGAGACACAGGCCATGTCATTTACTTGCTGTAATAGCAGATATTCAAACTGCAGGGGGCTCAGAAATGTGCAGTATGAACGGCTTTCTTCTTCCTCACTGTATTGTGTTTAGACAAGTATTAAATTTAATTTGCACTTCCTAATCACGAACGAGCTGAATATTGGAAAGAGATGGCGTAAAGATGAAGTCACCCGTCAAACAAGTGTTTGTGCGTCAAGGTTCACAGCAGCACTACTCACAAGCACCGAGTGCTGAAAGCAA... | CCATGATGGCTCCTCCTGTGTCATTTCCATCACCTGCACGACCTGGTCCCTGGGAAGCTGAGACACAGGCCATGTCATTTACTTGCTGTAATAGCAGATATTCAAACTGCAGGGGGCTCAGAAATGTGCAGTATGAACGGCTTTCTTCTTCCTCACTGTATTGTGTTTAGACAAGTATTAAATTTAATTTGCACTTCCTAATCACGAACGAGCTGAATATTGGAAAGAGATGGCGTAAAGATGAAGTCACCCGTCAAACAAGTGTTTGTGCGTCAAGGTTCACAGCAGCACTACTCACAAGCACCGAGTGCTGAAAGCAA... | benign | 217,564 |
Is the variant located on chromosome 13 at position 110512281, gene COL4A2 (collagen type IV alpha 2 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CATTTTCTGCATTCCCTACAAGCGAGCGCCACGTGGGAGGGAGGACAAGGGCAGAGCCCCGGATGCAGACTGCAGCAGCAAAAGTCATTTTCCTCCCCTCCCCTCGGTGGCCTCTCTCAAAGCTGCTCTGGCAGAGGCTACAAGTATCTAGCCAGCCGTTATTTTAGTTCCTCTTTTTTCAATTCTGGCTACTATCTGGAGCCCTCACAGCCCCTTCTCCAGGTCAGCCTCTCGTCCAGGCAATTCTCTTAAGATACATGAGCTGCTATGAGTACCAAGCCAGAGGTTTGTCCACTGAGAGAAGCACATTGGAAAGGGTG... | CATTTTCTGCATTCCCTACAAGCGAGCGCCACGTGGGAGGGAGGACAAGGGCAGAGCCCCGGATGCAGACTGCAGCAGCAAAAGTCATTTTCCTCCCCTCCCCTCGGTGGCCTCTCTCAAAGCTGCTCTGGCAGAGGCTACAAGTATCTAGCCAGCCGTTATTTTAGTTCCTCTTTTTTCAATTCTGGCTACTATCTGGAGCCCTCACAGCCCCTTCTCCAGGTCAGCCTCTCGTCCAGGCAATTCTCTTAAGATACATGAGCTGCTATGAGTACCAAGCCAGAGGTTTGTCCACTGAGAGAAGCACATTGGAAAGGGTG... | benign | 217,603 |
Mutation at chromosome 13, position 110622219, within NAXD (NAD(P)HX dehydratase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['NAD(P)HX_dehydratase_deficiency', 'NAXD-related_disorder'] | ATGGGTGCATTGGTCCCCTGCAGGTAGCTCAGCAAGCTTCATTGTGTCTCTCCTTGGCCCACAGTTTATAGTGATTCTGTGCCGGGTCTTGTGTGTTGGTCTGGAAGAAGGTGAAAAGATTTGGGGTTGGGCTGAGCGCGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGACGCAGGAG... | ATGGGTGCATTGGTCCCCTGCAGGTAGCTCAGCAAGCTTCATTGTGTCTCTCCTTGGCCCACAGTTTATAGTGATTCTGTGCCGGGTCTTGTGTGTTGGTCTGGAAGAAGGTGAAAAGATTTGGGGTTGGGCTGAGCGCGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGACGCAGGAG... | pathogenic | 217,612 |
The mutation impacting CARS2 (cysteinyl-tRNA synthetase 2, mitochondrial) on chromosome 13 at position 110642573: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GTGACTTCTGAACTGTAGACAGGAGACCTGTACCTCAGGGTCACGGTTAAATGATGAGCAAGCCCGTATCCCCAGTCACGGGTCCCGCTGCTGCCTGTGCCCTTGGGATTCAGAGATGCCAGTGTGACAGGGAGAGGCCTGGCCCAGGGTCTGCGAGCAGGAAGAGTGGAGAGGGGTCACCCTGCTGAGTCACTGACAGCTGTGGCGCTGGGCTTACCACAGAAGGGTGAGATCAGGAGCAAGGTGGGTGCTTCAGGAGGCCACCGGTCCTGTAGCCCAGGCAGCCTGCCGTGTGCTGGCCGCCACCTCCCGCTCAGGAA... | GTGACTTCTGAACTGTAGACAGGAGACCTGTACCTCAGGGTCACGGTTAAATGATGAGCAAGCCCGTATCCCCAGTCACGGGTCCCGCTGCTGCCTGTGCCCTTGGGATTCAGAGATGCCAGTGTGACAGGGAGAGGCCTGGCCCAGGGTCTGCGAGCAGGAAGAGTGGAGAGGGGTCACCCTGCTGAGTCACTGACAGCTGTGGCGCTGGGCTTACCACAGAAGGGTGAGATCAGGAGCAAGGTGGGTGCTTCAGGAGGCCACCGGTCCTGTAGCCCAGGCAGCCTGCCGTGTGCTGGCCGCCACCTCCCGCTCAGGAA... | benign | 217,651 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 110644440, gene CARS2 (cysteinyl-tRNA synthetase 2, mitochondrial). What disease(s) is it linked to if pathogenic? | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_27', 'Inborn_genetic_diseases'] | GCTGCTGCCGCCGGGCGTCCCCCGTGGCCTCGGGCATGGCCAGCGCAAACTGCCGGACCTTCTGCCGGAACCGCACCAGCTCGTCCACCACACCATGCAAGGTAGCCTCGCTGCCGTCTCCTGAAACGTACTGAAGCCAGCAGGGCGCGGTTACGTCCCCCGGAGACTGTGGATTGTGGATGCCCCCTCCCCACCCCGTGGTTGGGCTCTGGGCCGACACCCACCCAGCCCTGGGCTTCCCTGATTCCCTGCAGCTGGGCCTCTTTCTGGGTCTGGCAGGGATGGGTACAGCCCGCGAGCGCTGGGCTCTGGGCAAGGCT... | GCTGCTGCCGCCGGGCGTCCCCCGTGGCCTCGGGCATGGCCAGCGCAAACTGCCGGACCTTCTGCCGGAACCGCACCAGCTCGTCCACCACACCATGCAAGGTAGCCTCGCTGCCGTCTCCTGAAACGTACTGAAGCCAGCAGGGCGCGGTTACGTCCCCCGGAGACTGTGGATTGTGGATGCCCCCTCCCCACCCCGTGGTTGGGCTCTGGGCCGACACCCACCCAGCCCTGGGCTTCCCTGATTCCCTGCAGCTGGGCCTCTTTCTGGGTCTGGCAGGGATGGGTACAGCCCGCGAGCGCTGGGCTCTGGGCAAGGCT... | pathogenic | 217,654 |
Regarding the variant found on chromosome 13 at position 110683135 in gene CARS2 (cysteinyl-tRNA synthetase 2, mitochondrial): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ACAGCAAGGGGTCTCACTACATTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCAACCTTGGCCTCCTAAAGTGCTGGAATTACAGGTGTGAGCCACCATGCTCAACCAAGTTGGACATTTTTTAATGGTGTTTTCTATTGTTGTGTTATTACAACAATTTAAATTGAAAATTAAAAAGACAACACCATTGCTTTGGAAATAACATACACTAAGGCATTAAAATTTTTTTTCACCATATGTAAAAATGGTGGTTTTATTATCTTTGTTTTGTGTAATTCTATTTCCTAATTTTGTACCATTATAAATTAT... | ACAGCAAGGGGTCTCACTACATTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCAACCTTGGCCTCCTAAAGTGCTGGAATTACAGGTGTGAGCCACCATGCTCAACCAAGTTGGACATTTTTTAATGGTGTTTTCTATTGTTGTGTTATTACAACAATTTAAATTGAAAATTAAAAAGACAACACCATTGCTTTGGAAATAACATACACTAAGGCATTAAAATTTTTTTTCACCATATGTAAAAATGGTGGTTTTATTATCTTTGTTTTGTGTAATTCTATTTCCTAATTTTGTACCATTATAAATTAT... | benign | 217,697 |
Evaluate the clinical significance of the mutation at chromosome 13, position 113110777 in gene F7 (coagulation factor VII): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Congenital_factor_VII_deficiency'] | TGTCCCGGGAGTGTGGGTGTTCCAGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCAGGGGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGCGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGCGTGGGTGTCCCAGGGGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGATGTCCCGGGAGTGT... | TGTCCCGGGAGTGTGGGTGTTCCAGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCAGGGGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGCGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGCGTGGGTGTCCCAGGGGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGATGTCCCGGGAGTGT... | pathogenic | 217,765 |
Variant at chromosome 13, position 113118994, gene F7 (coagulation factor VII): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Abnormal_bleeding', 'Congenital_factor_VII_deficiency', 'F7-related_disorder', 'Factor_VII_deficiency', 'Myocardial_infarction,_susceptibility_to'] | TCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATCCGAGTTGTCACGTCGTCCTCACGGTTACTCTTTGAGGTGGGATCTTTGCCTGATCTTTGCAAAATCAGGAGCATTGGATCAAAGCTATGTGAAGATCCTGTGAGGTGAACAGTGAAATCTCACAGCGACATTTGTATTCTTGGGCCG... | TCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATCCGAGTTGTCACGTCGTCCTCACGGTTACTCTTTGAGGTGGGATCTTTGCCTGATCTTTGCAAAATCAGGAGCATTGGATCAAAGCTATGTGAAGATCCTGTGAGGTGAACAGTGAAATCTCACAGCGACATTTGTATTCTTGGGCCG... | pathogenic | 217,796 |
Is the genetic mutation found on chromosome 13 at position 114324359, within the gene CHAMP1 (chromosome alignment maintaining phosphoprotein 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACAGGCATGAGCCACTGCGCCCAGCCTATACATTTTTTTAAAATAATGGTTTTGTAATTAATAAAGGGAGAGCCTGCATTTCTAATCTGTACTGTTCTTTGAGGAGGAGTAAATATCATTACCGTCAATAAGGGAAGGTGTTCAGTCTTTCTCATTAAAGAGAAGCACATTAACACAATAGTGAAATACTAGCTTTCACCTAGGTTGTAGCAAGGATTAGGAATTTATAGGAAATTGTCTCTCATATATACACGTTGTTATGCAGTAATAGAAGTTTTTGAGAGTTTGGTAAAATGTATCAATTTTACACACAAATGGCC... | ACAGGCATGAGCCACTGCGCCCAGCCTATACATTTTTTTAAAATAATGGTTTTGTAATTAATAAAGGGAGAGCCTGCATTTCTAATCTGTACTGTTCTTTGAGGAGGAGTAAATATCATTACCGTCAATAAGGGAAGGTGTTCAGTCTTTCTCATTAAAGAGAAGCACATTAACACAATAGTGAAATACTAGCTTTCACCTAGGTTGTAGCAAGGATTAGGAATTTATAGGAAATTGTCTCTCATATATACACGTTGTTATGCAGTAATAGAAGTTTTTGAGAGTTTGGTAAAATGTATCAATTTTACACACAAATGGCC... | benign | 217,858 |
Chromosome 13, position 114325395, gene CHAMP1 (chromosome alignment maintaining phosphoprotein 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability'] | CTTGTTCATCCTTAAATAGCCAAGATTTAATTTTGATATTCACTCATCTTTGTGTGCTGAGGACTTTTGTACTCGGAGTTTGAGAGTCAAAGTATAAAGCACATGCAATAGCTAATTCTAGAGTCAGGCTCACATCACTGATAGTCCTATAGCCTGGACCAGAGAAAGTCAGGTAACTTCTCTGAACCTGTTTCTTCATCTGTAAGTGAAAATAATAGTTGAGTCATATCATTAGGATTAAATGAGATGATGTATGTGAAACTCCTAGCAGAGTGCCTGGGACTGTTCTATATCTCCTTTTTCTTCAAATTCTCCCTAGA... | CTTGTTCATCCTTAAATAGCCAAGATTTAATTTTGATATTCACTCATCTTTGTGTGCTGAGGACTTTTGTACTCGGAGTTTGAGAGTCAAAGTATAAAGCACATGCAATAGCTAATTCTAGAGTCAGGCTCACATCACTGATAGTCCTATAGCCTGGACCAGAGAAAGTCAGGTAACTTCTCTGAACCTGTTTCTTCATCTGTAAGTGAAAATAATAGTTGAGTCATATCATTAGGATTAAATGAGATGATGTATGTGAAACTCCTAGCAGAGTGCCTGGGACTGTTCTATATCTCCTTTTTCTTCAAATTCTCCCTAGA... | pathogenic | 217,872 |
Variant chromosome 14, position 20472467, gene PNP (purine nucleoside phosphorylase): benign or pathogenic? Disease(s)? | pathogenic; ['Purine-nucleoside_phosphorylase_deficiency'] | CCAACCTACCTGATCCAACTGCTTCCCTGAGGGTAGCCTGGTGTATTGTGCAATCATGTCTGGTTTCCCGGGCTCTGCTTTCCAAGTAAAAAATTTCCTGTGAAAGCTTGGTTAGTTGTGTTCAGCTCTGTCACACCTCATTGCCACCTCTGAAAGCAACGTTTGGTCTTCCCAGATGGATGTGAGAGAACTGGACTTGGAACTGGGAGAAAAGTAACACGGGTTGATTCTTGCTAGTGTAGGGGTTCTGGGTAAGTGCCCTGAGGTTTCTGAAGAGCAAAGATCCTCGGTGGAGAGAAAGGAAACTGGGAGGAGGCAGG... | CCAACCTACCTGATCCAACTGCTTCCCTGAGGGTAGCCTGGTGTATTGTGCAATCATGTCTGGTTTCCCGGGCTCTGCTTTCCAAGTAAAAAATTTCCTGTGAAAGCTTGGTTAGTTGTGTTCAGCTCTGTCACACCTCATTGCCACCTCTGAAAGCAACGTTTGGTCTTCCCAGATGGATGTGAGAGAACTGGACTTGGAACTGGGAGAAAAGTAACACGGGTTGATTCTTGCTAGTGTAGGGGTTCTGGGTAAGTGCCCTGAGGTTTCTGAAGAGCAAAGATCCTCGGTGGAGAGAAAGGAAACTGGGAGGAGGCAGG... | pathogenic | 217,946 |
Does the genetic variant at chromosome 14, position 21287987, impacting gene RPGRIP1 (RPGR interacting protein 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cone-rod_dystrophy_13', 'Leber_congenital_amaurosis_6'] | GACACAGATCACTTGAATTTTAGTGGCGGAGACAGGCTAATATATGTTGTTTTTGTCTGTGTTTGTTTTTTAGACAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATTTCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTAAAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGGGCGATCCGCCCGCCTCAACCTCCCAAAGTGCC... | GACACAGATCACTTGAATTTTAGTGGCGGAGACAGGCTAATATATGTTGTTTTTGTCTGTGTTTGTTTTTTAGACAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATTTCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTAAAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGGGCGATCCGCCCGCCTCAACCTCCCAAAGTGCC... | pathogenic | 217,995 |
The genetic variant at chromosome 14, position 21303413, affecting gene RPGRIP1 (RPGR interacting protein 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cone-rod_dystrophy_13', 'Leber_congenital_amaurosis_6', 'Retinal_dystrophy'] | TTCTGCCTCCCTAAAATCTTTATTTCCTGAGTTGGGATATCAGATTCAAAATTCTAAATTCACCATGGAGTGTCGCTGAGGGCAGAATCAGACAACAGGTCAGGAGATGGAGACCATCCTTGTCCAACATGGTGAAACCCCGTCTCTAATAAAAATACAAAAATTAGCTGGGCATGGTGGCGCGCACCTGTAGTCCCAGTTATTCGAGAGATTGAGGCAGGAGAATCACTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCAGTCCAGCCTGGCGACAGAGCGAGACTCTGTCTCAAAATAATA... | TTCTGCCTCCCTAAAATCTTTATTTCCTGAGTTGGGATATCAGATTCAAAATTCTAAATTCACCATGGAGTGTCGCTGAGGGCAGAATCAGACAACAGGTCAGGAGATGGAGACCATCCTTGTCCAACATGGTGAAACCCCGTCTCTAATAAAAATACAAAAATTAGCTGGGCATGGTGGCGCGCACCTGTAGTCCCAGTTATTCGAGAGATTGAGGCAGGAGAATCACTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCAGTCCAGCCTGGCGACAGAGCGAGACTCTGTCTCAAAATAATA... | pathogenic | 218,006 |
A genetic variant on chromosome 14, position 21303453, affects the gene RPGRIP1 (RPGR interacting protein 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cone-rod_dystrophy_13', 'Leber_congenital_amaurosis_6'] | CAGATTCAAAATTCTAAATTCACCATGGAGTGTCGCTGAGGGCAGAATCAGACAACAGGTCAGGAGATGGAGACCATCCTTGTCCAACATGGTGAAACCCCGTCTCTAATAAAAATACAAAAATTAGCTGGGCATGGTGGCGCGCACCTGTAGTCCCAGTTATTCGAGAGATTGAGGCAGGAGAATCACTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCAGTCCAGCCTGGCGACAGAGCGAGACTCTGTCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAA... | CAGATTCAAAATTCTAAATTCACCATGGAGTGTCGCTGAGGGCAGAATCAGACAACAGGTCAGGAGATGGAGACCATCCTTGTCCAACATGGTGAAACCCCGTCTCTAATAAAAATACAAAAATTAGCTGGGCATGGTGGCGCGCACCTGTAGTCCCAGTTATTCGAGAGATTGAGGCAGGAGAATCACTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCAGTCCAGCCTGGCGACAGAGCGAGACTCTGTCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAA... | pathogenic | 218,008 |
Variant chromosome 14, position 21310558, gene RPGRIP1 (RPGR interacting protein 1): benign or pathogenic? Disease(s)? | benign | GGGTATGGGCAGGACACAAAAGAGAGAGTAGTCAGACCCACCAGTGGGTGAGGTGCTGATATGGCTGATAAGTGGAGGAACACCAGGGCTCTTGTCTCACGCGAATTAGATAAAACGACACGGACACAGGTGGAGCGGCTTTAAGGAGCGGAGAGTTTAATAGGCAAGAAACAAGGGAGAAGAAAGACGGAAGAAGCTCCCCTGTACTGAGACAGAGGGAGAAGGACTCCAAAGCAGAGAGGGGAGACCTCATGTGCCGGGAAAAGTGGCTGCTTATATGAGTAGGCAGGAGGAGGTAGTGTCTGATTTGCATAGGGCTC... | GGGTATGGGCAGGACACAAAAGAGAGAGTAGTCAGACCCACCAGTGGGTGAGGTGCTGATATGGCTGATAAGTGGAGGAACACCAGGGCTCTTGTCTCACGCGAATTAGATAAAACGACACGGACACAGGTGGAGCGGCTTTAAGGAGCGGAGAGTTTAATAGGCAAGAAACAAGGGAGAAGAAAGACGGAAGAAGCTCCCCTGTACTGAGACAGAGGGAGAAGGACTCCAAAGCAGAGAGGGGAGACCTCATGTGCCGGGAAAAGTGGCTGCTTATATGAGTAGGCAGGAGGAGGTAGTGTCTGATTTGCATAGGGCTC... | benign | 218,012 |
Gene mutation in RPGRIP1 (RPGR interacting protein 1) at chromosome 14, position 21312457—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cone-rod_dystrophy_13', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_6'] | TACTTGGCAAGCTAGGGCAGGGGAAAAATAGCAACAATTAGTAAACAAGTACACAAATTGATTTGTTTTGTGGGATTTTTATAATGTCTTTAAAAATGTTAAGCATTATATTACAGTGATAAATATATCATGAAATTGATAAATCAATAAAATAATAATAATTTCTTTCTTCCAGGCATACGAAACCTTGCTCCAGAAGGTACTTAATGAGAATTGAGTCTCTGTTTCTTAGTAACCAGAATAATCAAACCCAAAGAAATCTATGTTCATCTCCAAGTAACATAACACCAGAATTTAGCTAACTAAATCAATGTTATTAT... | TACTTGGCAAGCTAGGGCAGGGGAAAAATAGCAACAATTAGTAAACAAGTACACAAATTGATTTGTTTTGTGGGATTTTTATAATGTCTTTAAAAATGTTAAGCATTATATTACAGTGATAAATATATCATGAAATTGATAAATCAATAAAATAATAATAATTTCTTTCTTCCAGGCATACGAAACCTTGCTCCAGAAGGTACTTAATGAGAATTGAGTCTCTGTTTCTTAGTAACCAGAATAATCAAACCCAAAGAAATCTATGTTCATCTCCAAGTAACATAACACCAGAATTTAGCTAACTAAATCAATGTTATTAT... | pathogenic | 218,015 |
Assess the variant on chromosome 14, position 21317759, impacting RPGRIP1 (RPGR interacting protein 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cone-rod_dystrophy_13', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_6'] | AATACTATTTTCTTGAGTCCTTACATGATATATGGTCAGGCAATGCCAAGAAATGTTAATACTTGCCTAAGTAGGTTATTATTATTATTATTATTATTTTTTTTTTGAGGCAGAGTCTCACTCTGTTGCCCAGGGTAGAGTGCACTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTCCTTCCTCAGCCTCCCAAGTAGCCGTGACCACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTGGTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCACTCTGTTGCCCAGGCTGAGAGTG... | AATACTATTTTCTTGAGTCCTTACATGATATATGGTCAGGCAATGCCAAGAAATGTTAATACTTGCCTAAGTAGGTTATTATTATTATTATTATTATTTTTTTTTTGAGGCAGAGTCTCACTCTGTTGCCCAGGGTAGAGTGCACTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTCCTTCCTCAGCCTCCCAAGTAGCCGTGACCACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTGGTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCACTCTGTTGCCCAGGCTGAGAGTG... | pathogenic | 218,019 |
Classify the chromosome 14 variant at position 21321855 affecting gene RPGRIP1 (RPGR interacting protein 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cone-rod_dystrophy', 'Cone-rod_dystrophy_13', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_6', 'Retinal_dystrophy'] | GTCTTTTGTTTTCGGAGTGCAAGTAGTATCACCTCAGTTTACTGAGTCAATAAGCTAGAGTCCTCCTCTGTAGAAATAATAGAGAATTGCTTCTCAAATTTATAACATTAATTAAACCTTAGTGGGAAGATTAAATTCACACTTGATCCAACTCTGACCATGGTGATAAATAACTACAGAATTTCACATTTCTGGATTATTTTTCCCCAGCCCAAAATGAGGATCTGAAGCTTGAAGTCACCAACATACTTCAGAAGCATAAACAGGAAGTAGAGCTCCTCCAAAATGCAGCCACAATTTCCCAACCTCCTGACAGGCAA... | GTCTTTTGTTTTCGGAGTGCAAGTAGTATCACCTCAGTTTACTGAGTCAATAAGCTAGAGTCCTCCTCTGTAGAAATAATAGAGAATTGCTTCTCAAATTTATAACATTAATTAAACCTTAGTGGGAAGATTAAATTCACACTTGATCCAACTCTGACCATGGTGATAAATAACTACAGAATTTCACATTTCTGGATTATTTTTCCCCAGCCCAAAATGAGGATCTGAAGCTTGAAGTCACCAACATACTTCAGAAGCATAAACAGGAAGTAGAGCTCCTCCAAAATGCAGCCACAATTTCCCAACCTCCTGACAGGCAA... | pathogenic | 218,023 |
Determine whether the variant at chromosome 14, position 21325903, in gene RPGRIP1 (RPGR interacting protein 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cone-rod_dystrophy_13', 'Leber_congenital_amaurosis_6', 'Retinal_dystrophy'] | CTTAAAATAGGACCTTCGGCAGCAGCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACT... | CTTAAAATAGGACCTTCGGCAGCAGCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACT... | pathogenic | 218,042 |
Evaluate this variant at chromosome 14, position 21325927, gene RPGRIP1 (RPGR interacting protein 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cone-rod_dystrophy_13', 'Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_6', 'Retinal_dystrophy'] | GCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATG... | GCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATG... | pathogenic | 218,043 |
Does the genetic variant at chromosome 14, position 21327626, impacting gene RPGRIP1 (RPGR interacting protein 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cone-rod_dystrophy_13', 'Leber_congenital_amaurosis_6', 'Retinal_dystrophy'] | ACATCCTTCATCCTTGCTGTGAACAGAATAGCTTCTCTGTGCCATTCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCC... | ACATCCTTCATCCTTGCTGTGAACAGAATAGCTTCTCTGTGCCATTCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCC... | pathogenic | 218,049 |
Considering the variant on chromosome 14, location 21327671, involving gene RPGRIP1 (RPGR interacting protein 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cone-rod_dystrophy_13', 'Leber_congenital_amaurosis_1', 'Leber_congenital_amaurosis_6'] | TCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCCAGTCCATATGCTGTGTACC... | TCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCCAGTCCATATGCTGTGTACC... | pathogenic | 218,050 |
Is chromosome 14, position 21348166, gene RPGRIP1 (RPGR interacting protein 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cone-rod_dystrophy_13', 'Leber_congenital_amaurosis_6', 'Retinal_dystrophy'] | ATTTTTTGATGTTGACATAACTAAGTGAATTTTAGATCTCCTTTAAAGTTTTAGGAAAGCTGGTTGTCCTTATTATTCCAATAATCTGAAGAAGGCCTCCTTTCAGAGTTTCCAGATAAAATGTGGGACATACCCAAAAAAAAATTATTTGGTCGGGTGCAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAACACAAAAAAATCAGCTAGGCATGGTGGCACATGCTGGTAATTCTA... | ATTTTTTGATGTTGACATAACTAAGTGAATTTTAGATCTCCTTTAAAGTTTTAGGAAAGCTGGTTGTCCTTATTATTCCAATAATCTGAAGAAGGCCTCCTTTCAGAGTTTCCAGATAAAATGTGGGACATACCCAAAAAAAAATTATTTGGTCGGGTGCAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAACACAAAAAAATCAGCTAGGCATGGTGGCACATGCTGGTAATTCTA... | pathogenic | 218,063 |
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