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 |
|---|---|---|---|---|---|
Considering the genetic mutation at chromosome 19, position 35033491, impacting SCN1B (sodium voltage-gated channel beta subunit 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGAAGAGAGAGGGAGATGCGGGTGCCCGTGAACACCGGGAGAGAATCTTGCATGGAGTTTGAAAAGGGATAGACGTAGAAAGGTGGAAAGAGATTAGGAGAGGTCTCCTTCTGAGCCCAGAGAGTGGACAAAAAGTGGAGGGACCTTCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAG... | AGAAGAGAGAGGGAGATGCGGGTGCCCGTGAACACCGGGAGAGAATCTTGCATGGAGTTTGAAAAGGGATAGACGTAGAAAGGTGGAAAGAGATTAGGAGAGGTCTCCTTCTGAGCCCAGAGAGTGGACAAAAAGTGGAGGGACCTTCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAG... | benign | 302,090 |
Variant at chromosome 19, position 35033637, gene SCN1B (sodium voltage-gated channel beta subunit 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Brugada_syndrome_5'] | TCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGGATGGGGTTGGGGTGGGAAGAGCTCTAGAGGCGAGGAGC... | TCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGGATGGGGTTGGGGTGGGAAGAGCTCTAGAGGCGAGGAGC... | pathogenic | 302,102 |
Mutation found at chromosome 19 position 35718020, gene KMT2B (lysine methyltransferase 2B): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Dystonia_28,_childhood-onset', 'Inborn_genetic_diseases', 'Intellectual_developmental_disorder,_autosomal_dominant_68'] | CTGGGGAGATGGAAGAGTCTGATCAGGGGCACACAGGTGAGTCGGGCGGGGGCACTCGTGCCTCAGCCCCACTGTAGCCCTTGATTTCCTGCCTGAATGGTACAGTGAGTTGGCGCTGGGATTCCTGGCCCTGCCCTCCTTTGCCTTCTCTGTCCCCACAGGCGCACTTGCAACCTGTGCGGGTCATGAGGACAAGGCAGGCTGCCCACCTCGCCCGCACCCTCCCCCGGCCCCTCCTGCTCGGTCTCGGCCCTATGCGTGCTCTGTCTGTGGAAAGAGGTTTTCACTCAAGCATCAGATGGAGACGCACTACCGAGTCC... | CTGGGGAGATGGAAGAGTCTGATCAGGGGCACACAGGTGAGTCGGGCGGGGGCACTCGTGCCTCAGCCCCACTGTAGCCCTTGATTTCCTGCCTGAATGGTACAGTGAGTTGGCGCTGGGATTCCTGGCCCTGCCCTCCTTTGCCTTCTCTGTCCCCACAGGCGCACTTGCAACCTGTGCGGGTCATGAGGACAAGGCAGGCTGCCCACCTCGCCCGCACCCTCCCCCGGCCCCTCCTGCTCGGTCTCGGCCCTATGCGTGCTCTGTCTGTGGAAAGAGGTTTTCACTCAAGCATCAGATGGAGACGCACTACCGAGTCC... | pathogenic | 302,264 |
Does the chromosome 19 mutation at position 35718023 within gene KMT2B (lysine methyltransferase 2B) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Dystonia_28,_childhood-onset', 'Intellectual_developmental_disorder,_autosomal_dominant_68'] | GGGAGATGGAAGAGTCTGATCAGGGGCACACAGGTGAGTCGGGCGGGGGCACTCGTGCCTCAGCCCCACTGTAGCCCTTGATTTCCTGCCTGAATGGTACAGTGAGTTGGCGCTGGGATTCCTGGCCCTGCCCTCCTTTGCCTTCTCTGTCCCCACAGGCGCACTTGCAACCTGTGCGGGTCATGAGGACAAGGCAGGCTGCCCACCTCGCCCGCACCCTCCCCCGGCCCCTCCTGCTCGGTCTCGGCCCTATGCGTGCTCTGTCTGTGGAAAGAGGTTTTCACTCAAGCATCAGATGGAGACGCACTACCGAGTCCACA... | GGGAGATGGAAGAGTCTGATCAGGGGCACACAGGTGAGTCGGGCGGGGGCACTCGTGCCTCAGCCCCACTGTAGCCCTTGATTTCCTGCCTGAATGGTACAGTGAGTTGGCGCTGGGATTCCTGGCCCTGCCCTCCTTTGCCTTCTCTGTCCCCACAGGCGCACTTGCAACCTGTGCGGGTCATGAGGACAAGGCAGGCTGCCCACCTCGCCCGCACCCTCCCCCGGCCCCTCCTGCTCGGTCTCGGCCCTATGCGTGCTCTGTCTGTGGAAAGAGGTTTTCACTCAAGCATCAGATGGAGACGCACTACCGAGTCCACA... | pathogenic | 302,265 |
Variant in KMT2B (lysine methyltransferase 2B), chromosome 19, position 35718026—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic | AGATGGAAGAGTCTGATCAGGGGCACACAGGTGAGTCGGGCGGGGGCACTCGTGCCTCAGCCCCACTGTAGCCCTTGATTTCCTGCCTGAATGGTACAGTGAGTTGGCGCTGGGATTCCTGGCCCTGCCCTCCTTTGCCTTCTCTGTCCCCACAGGCGCACTTGCAACCTGTGCGGGTCATGAGGACAAGGCAGGCTGCCCACCTCGCCCGCACCCTCCCCCGGCCCCTCCTGCTCGGTCTCGGCCCTATGCGTGCTCTGTCTGTGGAAAGAGGTTTTCACTCAAGCATCAGATGGAGACGCACTACCGAGTCCACACAG... | AGATGGAAGAGTCTGATCAGGGGCACACAGGTGAGTCGGGCGGGGGCACTCGTGCCTCAGCCCCACTGTAGCCCTTGATTTCCTGCCTGAATGGTACAGTGAGTTGGCGCTGGGATTCCTGGCCCTGCCCTCCTTTGCCTTCTCTGTCCCCACAGGCGCACTTGCAACCTGTGCGGGTCATGAGGACAAGGCAGGCTGCCCACCTCGCCCGCACCCTCCCCCGGCCCCTCCTGCTCGGTCTCGGCCCTATGCGTGCTCTGTCTGTGGAAAGAGGTTTTCACTCAAGCATCAGATGGAGACGCACTACCGAGTCCACACAG... | pathogenic | 302,266 |
Variant chromosome 19, position 35719861, gene KMT2B (lysine methyltransferase 2B): benign or pathogenic? Disease(s)? | pathogenic; ['Dystonia_28,_childhood-onset'] | GCGGTCCGAGGGCGCCGGCCGGCCGCGGACTCCCTCTCCCGTGGTGCCCTGCGCGTGGCCGGCCCGGCCCCCGGTCTCCCGCGGCGGCGCTGGTTGTTGTCGTGCGCCGCGGCCGCCCCGCCCCGCCCCCGCTCTCTCCCCTCCCCCCGGCCCTGCGCACGGGCCGCCCCTCCCCCCGCCTCCCCGGCCCCTCTCACGGTGCCAAGATGGCGGCGGCGGCGGGCGGCGGCAGTTGCCCCGGGCCTGGCTCCGCGCGGGGCCGCTTCCCGGGCCGGCCGCGGGGCGCCGGCGGGGGCGGGGGCCGCGGCGGACGGGGCAAC... | GCGGTCCGAGGGCGCCGGCCGGCCGCGGACTCCCTCTCCCGTGGTGCCCTGCGCGTGGCCGGCCCGGCCCCCGGTCTCCCGCGGCGGCGCTGGTTGTTGTCGTGCGCCGCGGCCGCCCCGCCCCGCCCCCGCTCTCTCCCCTCCCCCCGGCCCTGCGCACGGGCCGCCCCTCCCCCCGCCTCCCCGGCCCCTCTCACGGTGCCAAGATGGCGGCGGCGGCGGGCGGCGGCAGTTGCCCCGGGCCTGGCTCCGCGCGGGGCCGCTTCCCGGGCCGGCCGCGGGGCGCCGGCGGGGGCGGGGGCCGCGGCGGACGGGGCAAC... | pathogenic | 302,278 |
Mutation at chromosome 19, position 35720452, within KMT2B (lysine methyltransferase 2B): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CGGCGCCGGGTGGGGCGGAGGCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAG... | CGGCGCCGGGTGGGGCGGAGGCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAG... | benign | 302,297 |
A genetic alteration at chromosome 19, position 35720472, in gene KMT2B (lysine methyltransferase 2B)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGT... | GCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGT... | benign | 302,299 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 35720472, gene KMT2B (lysine methyltransferase 2B). What disease(s) is it linked to if pathogenic? | pathogenic; ['Inborn_genetic_diseases'] | GCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGT... | GCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGT... | pathogenic | 302,300 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 35720614, gene KMT2B (lysine methyltransferase 2B): what disease(s) if pathogenic? | benign | AAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGTTGGAGCTGTCTGGGCTCTTACCTGTGGGCCGCCCCGCCGGGCCTCGCAACCTCCTGGTTTCTCCAGGGCCCCAGTTTCTCTTGGCATCTCAGGTAGAGTGGTGGAGGGCTTCCTCTTGGGGCTCGGGTTGAACAGGAGTGGG... | AAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGTTGGAGCTGTCTGGGCTCTTACCTGTGGGCCGCCCCGCCGGGCCTCGCAACCTCCTGGTTTCTCCAGGGCCCCAGTTTCTCTTGGCATCTCAGGTAGAGTGGTGGAGGGCTTCCTCTTGGGGCTCGGGTTGAACAGGAGTGGG... | benign | 302,305 |
Evaluate the clinical significance of the mutation at chromosome 19, position 35723730 in gene KMT2B (lysine methyltransferase 2B): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GGCGTGGGTTCCTTGCCGCTGTCTGGGGTAGAGGAGAAGATGTTCAGCCTCCTCAAGAGAGCCAAAGTGCAGCTATTCAAGATCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGGTGAGTGTGGTCCCTGGGCCCAGCGGCACACCCAGCCATCCAGCCTCCATTCTTTGCAACCCCCTAACCTTCCGCCTCCTTGGACACTTTCCAGCATTGCGGGGAACCCTCAGAACCTGCCTTTCTGTGATCCCCCACCTTCCTTTGTTCCTCCCCAGACCTGGCCCTTCTCTGTGCTAGTTCCCTGTCCCTATCTT... | GGCGTGGGTTCCTTGCCGCTGTCTGGGGTAGAGGAGAAGATGTTCAGCCTCCTCAAGAGAGCCAAAGTGCAGCTATTCAAGATCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGGTGAGTGTGGTCCCTGGGCCCAGCGGCACACCCAGCCATCCAGCCTCCATTCTTTGCAACCCCCTAACCTTCCGCCTCCTTGGACACTTTCCAGCATTGCGGGGAACCCTCAGAACCTGCCTTTCTGTGATCCCCCACCTTCCTTTGTTCCTCCCCAGACCTGGCCCTTCTCTGTGCTAGTTCCCTGTCCCTATCTT... | benign | 302,354 |
Clinically, how would you classify the variant at chromosome 19, position 35723812, gene KMT2B (lysine methyltransferase 2B): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Inborn_genetic_diseases'] | TCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGGTGAGTGTGGTCCCTGGGCCCAGCGGCACACCCAGCCATCCAGCCTCCATTCTTTGCAACCCCCTAACCTTCCGCCTCCTTGGACACTTTCCAGCATTGCGGGGAACCCTCAGAACCTGCCTTTCTGTGATCCCCCACCTTCCTTTGTTCCTCCCCAGACCTGGCCCTTCTCTGTGCTAGTTCCCTGTCCCTATCTTCCTTTTTTTTTTTTTTTTATTTTTGAGACCGAGTCTCACTTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGC... | TCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGGTGAGTGTGGTCCCTGGGCCCAGCGGCACACCCAGCCATCCAGCCTCCATTCTTTGCAACCCCCTAACCTTCCGCCTCCTTGGACACTTTCCAGCATTGCGGGGAACCCTCAGAACCTGCCTTTCTGTGATCCCCCACCTTCCTTTGTTCCTCCCCAGACCTGGCCCTTCTCTGTGCTAGTTCCCTGTCCCTATCTTCCTTTTTTTTTTTTTTTTATTTTTGAGACCGAGTCTCACTTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGC... | pathogenic | 302,355 |
Determine whether the variant at chromosome 19, position 35724630, in gene KMT2B (lysine methyltransferase 2B) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TGTGCAAGGTCCCCGCATCAAACATGTCTGCCGTCATGCTGCTGTGGCCCTGGGTCAGGCCCGGGCCATGGTGCCTGAAGATGTCCCTCGCCTCAGTGCCCTCCCTCTCCGGGATCGGCAGGACCTCGCCACAGAGGGTAGGTGGGGAGACTGGACAGCCATGTCAGGTTTGGGGATGACCCCACACTTGGGTGACATGCACCAAGAGCCTAGGAGAGAGGGAGCCAAGTCAGGTGCTCAGGGGTTAGGTGGCAAGTGGGCTGGAGTGCTAGGTCCTAGAGCAACTTCATTTGGGGGCACCAGGAACCTGGCGCTGTGAG... | TGTGCAAGGTCCCCGCATCAAACATGTCTGCCGTCATGCTGCTGTGGCCCTGGGTCAGGCCCGGGCCATGGTGCCTGAAGATGTCCCTCGCCTCAGTGCCCTCCCTCTCCGGGATCGGCAGGACCTCGCCACAGAGGGTAGGTGGGGAGACTGGACAGCCATGTCAGGTTTGGGGATGACCCCACACTTGGGTGACATGCACCAAGAGCCTAGGAGAGAGGGAGCCAAGTCAGGTGCTCAGGGGTTAGGTGGCAAGTGGGCTGGAGTGCTAGGTCCTAGAGCAACTTCATTTGGGGGCACCAGGAACCTGGCGCTGTGAG... | benign | 302,361 |
Determine if the mutation at chromosome 19, position 35725212 in gene KMT2B (lysine methyltransferase 2B) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TCGATGTGGACACTGTCGGGGCTGCCTACGTGTGCAGGACTGTGGGTCCTGTGTCAACTGCCTAGACAAGCCCAAGTTTGGGGGCCCTAACACCAAGAAGCAGTGCTGTGTGTGAGTAGCTGGGGCGTGACCTCATTCCCGTGGTTGTTGGTCCCCTAGGCTTCCTACCTCACTCCTCTTCTGCCTGGCCAGAGCAGTGGGGTTGGCATTCTTGTGGAGAGCTTCCTCTCTTCCCCCAGACCACCAGTCCCCTACCCTGGTGACGTGCTGCTCCCCTCCCCAGATACCGGAAGTGTGACAAAATAGAGGCTCGGAAGATG... | TCGATGTGGACACTGTCGGGGCTGCCTACGTGTGCAGGACTGTGGGTCCTGTGTCAACTGCCTAGACAAGCCCAAGTTTGGGGGCCCTAACACCAAGAAGCAGTGCTGTGTGTGAGTAGCTGGGGCGTGACCTCATTCCCGTGGTTGTTGGTCCCCTAGGCTTCCTACCTCACTCCTCTTCTGCCTGGCCAGAGCAGTGGGGTTGGCATTCTTGTGGAGAGCTTCCTCTCTTCCCCCAGACCACCAGTCCCCTACCCTGGTGACGTGCTGCTCCCCTCCCCAGATACCGGAAGTGTGACAAAATAGAGGCTCGGAAGATG... | benign | 302,371 |
Gene KMT2B (lysine methyltransferase 2B) variant at chromosome position 35727200 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Inborn_genetic_diseases'] | CGAGAAGCCAGGTGGGTCTGCCTTGTATGCCTGGCGGCCCTCTGATCCTGCATCCTCTCTTCCCCCAGGAGGATTGTGATTTAGAGAACGTGTGGCTGATGGGGGGCCTGAGTGTGCTCACCTCTGTGCCAGGGGGCCCCCCGATGGTGTGCTTGCTGTGTGCCAGCAAAGGACTCCACGAGGTTAGATCTCTGCCTTTCTTCACAGACCCCCAGCTCTCTGTCGGTCCTCACGGCCTGATTCCTTGGGCCCTCTCAGCTGGGTCTCATCCCTTGGCCCTCTGGCCTCATGCTATGCCCATCATTCACTCCTTTACCCTG... | CGAGAAGCCAGGTGGGTCTGCCTTGTATGCCTGGCGGCCCTCTGATCCTGCATCCTCTCTTCCCCCAGGAGGATTGTGATTTAGAGAACGTGTGGCTGATGGGGGGCCTGAGTGTGCTCACCTCTGTGCCAGGGGGCCCCCCGATGGTGTGCTTGCTGTGTGCCAGCAAAGGACTCCACGAGGTTAGATCTCTGCCTTTCTTCACAGACCCCCAGCTCTCTGTCGGTCCTCACGGCCTGATTCCTTGGGCCCTCTCAGCTGGGTCTCATCCCTTGGCCCTCTGGCCTCATGCTATGCCCATCATTCACTCCTTTACCCTG... | pathogenic | 302,385 |
Variant in KMT2B (lysine methyltransferase 2B), chromosome 19, position 35730565—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Dystonia_28,_childhood-onset'] | CCGAGGTGTCAGGGAAGGCTTCCTGAAAGAGATGGCATTGGAGCAGAGCTGGGGAGGAAGAGTATTGCAGGCATGAGGAGCAGCATTTCGTATGTCCAAGCTGGCACAAGAGGGCCTGGCTTATTTGGTGGACTGAGAGAAATTCCACATAGAGAGGGAGTAGCGGGTGTCATGGCGAGTTCAGGCTGGTTTGTGGATGGGCCCCCGTTCAGCTGCCCTTGTTGGGCACATCAGCTGCTAACCCTGCCTGTCCACAGCGGAGTCCTTCCCAATGCGGTGTTGCCCCCATCCCTGGATCATGTCTATGCGCAGTGGAGACA... | CCGAGGTGTCAGGGAAGGCTTCCTGAAAGAGATGGCATTGGAGCAGAGCTGGGGAGGAAGAGTATTGCAGGCATGAGGAGCAGCATTTCGTATGTCCAAGCTGGCACAAGAGGGCCTGGCTTATTTGGTGGACTGAGAGAAATTCCACATAGAGAGGGAGTAGCGGGTGTCATGGCGAGTTCAGGCTGGTTTGTGGATGGGCCCCCGTTCAGCTGCCCTTGTTGGGCACATCAGCTGCTAACCCTGCCTGTCCACAGCGGAGTCCTTCCCAATGCGGTGTTGCCCCCATCCCTGGATCATGTCTATGCGCAGTGGAGACA... | pathogenic | 302,423 |
Benign or pathogenic: chromosome 19, position 35732756, gene KMT2B (lysine methyltransferase 2B) variant? Disease(s) if pathogenic? | pathogenic | TGCTCCCGTCTGTACTGGAGCACAGTGGATGCTCGGAGGCGCTGCTGGTATCGGTGCCGAATTCTGGAGTATCGGCCATGGGGGCCGAGGGAAGAGCCAGCTCACCTGGAGGCTGCAGAGGAGAACCAGACCATTGTGCACAGCCCCGCCCCTTCCTCAGGTGTGGCTTTGGCTCTGTCTTCTTCCTGAATACCGCTCTCCCTAAACAAACCTACAGATCTCTGTTCCCCGCTCCCTTTTGGAAAGTCCAGGAGGCTTGCTTTTGCTTCAGTTGCTGTAATGTAACGGCAGCTCGCTTACTGCCATGCCTTGTGTGCCAG... | TGCTCCCGTCTGTACTGGAGCACAGTGGATGCTCGGAGGCGCTGCTGGTATCGGTGCCGAATTCTGGAGTATCGGCCATGGGGGCCGAGGGAAGAGCCAGCTCACCTGGAGGCTGCAGAGGAGAACCAGACCATTGTGCACAGCCCCGCCCCTTCCTCAGGTGTGGCTTTGGCTCTGTCTTCTTCCTGAATACCGCTCTCCCTAAACAAACCTACAGATCTCTGTTCCCCGCTCCCTTTTGGAAAGTCCAGGAGGCTTGCTTTTGCTTCAGTTGCTGTAATGTAACGGCAGCTCGCTTACTGCCATGCCTTGTGTGCCAG... | pathogenic | 302,452 |
Is the genetic mutation found on chromosome 19 at position 35732782, within the gene KMT2B (lysine methyltransferase 2B), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases'] | GGATGCTCGGAGGCGCTGCTGGTATCGGTGCCGAATTCTGGAGTATCGGCCATGGGGGCCGAGGGAAGAGCCAGCTCACCTGGAGGCTGCAGAGGAGAACCAGACCATTGTGCACAGCCCCGCCCCTTCCTCAGGTGTGGCTTTGGCTCTGTCTTCTTCCTGAATACCGCTCTCCCTAAACAAACCTACAGATCTCTGTTCCCCGCTCCCTTTTGGAAAGTCCAGGAGGCTTGCTTTTGCTTCAGTTGCTGTAATGTAACGGCAGCTCGCTTACTGCCATGCCTTGTGTGCCAGGGGCTGTGCCCGGCTTTTCATGGGAA... | GGATGCTCGGAGGCGCTGCTGGTATCGGTGCCGAATTCTGGAGTATCGGCCATGGGGGCCGAGGGAAGAGCCAGCTCACCTGGAGGCTGCAGAGGAGAACCAGACCATTGTGCACAGCCCCGCCCCTTCCTCAGGTGTGGCTTTGGCTCTGTCTTCTTCCTGAATACCGCTCTCCCTAAACAAACCTACAGATCTCTGTTCCCCGCTCCCTTTTGGAAAGTCCAGGAGGCTTGCTTTTGCTTCAGTTGCTGTAATGTAACGGCAGCTCGCTTACTGCCATGCCTTGTGTGCCAGGGGCTGTGCCCGGCTTTTCATGGGAA... | pathogenic | 302,454 |
Gene mutation in KMT2B (lysine methyltransferase 2B) at chromosome 19, position 35732956—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Dystonia_28,_childhood-onset'] | CCTAAACAAACCTACAGATCTCTGTTCCCCGCTCCCTTTTGGAAAGTCCAGGAGGCTTGCTTTTGCTTCAGTTGCTGTAATGTAACGGCAGCTCGCTTACTGCCATGCCTTGTGTGCCAGGGGCTGTGCCCGGCTTTTCATGGGAAGTGAGGTGGGGAGAGCGGCACGCTGCCTACTTGAGGTGGGGTACTGGCTTTTGGACGACTGCAGGGAGTAGAGTGCTTACAGCTCCCTAACTTGGGGCACTGTGCTCATGGAGCGCTCTCCAGTGTCGCCATACTACACCTTGAAGGGGACAGTGGCTGAACACAGTAACATGC... | CCTAAACAAACCTACAGATCTCTGTTCCCCGCTCCCTTTTGGAAAGTCCAGGAGGCTTGCTTTTGCTTCAGTTGCTGTAATGTAACGGCAGCTCGCTTACTGCCATGCCTTGTGTGCCAGGGGCTGTGCCCGGCTTTTCATGGGAAGTGAGGTGGGGAGAGCGGCACGCTGCCTACTTGAGGTGGGGTACTGGCTTTTGGACGACTGCAGGGAGTAGAGTGCTTACAGCTCCCTAACTTGGGGCACTGTGCTCATGGAGCGCTCTCCAGTGTCGCCATACTACACCTTGAAGGGGACAGTGGCTGAACACAGTAACATGC... | pathogenic | 302,461 |
Variant in gene NPHS1 (NPHS1 adhesion molecule, nephrin), located at chromosome 19 position 35826620: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | TTATTTTAGTCTGTGCTGATAAAAAATAACATTGTCATACAACAATTGGGGTGTATTTGTAAAAAAGAAAACAAAAGAAAAATAAATATATTGACAAACACGTGAACTAGAAAGTTTTGATAATATGGTTAATCAAGTAGAAGTGTGGTCTGAAGAAAGTCTGTTCTTCATGGAAACAGGTGGGCTTCTCAGCTATCCTGCTATTCAATAGAAAGATGGAGCCAGGCGTGGTGGCTCACGCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCTAA... | TTATTTTAGTCTGTGCTGATAAAAAATAACATTGTCATACAACAATTGGGGTGTATTTGTAAAAAAGAAAACAAAAGAAAAATAAATATATTGACAAACACGTGAACTAGAAAGTTTTGATAATATGGTTAATCAAGTAGAAGTGTGGTCTGAAGAAAGTCTGTTCTTCATGGAAACAGGTGGGCTTCTCAGCTATCCTGCTATTCAATAGAAAGATGGAGCCAGGCGTGGTGGCTCACGCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCTAA... | pathogenic | 302,509 |
Does the variant impacting NPHS1 (NPHS1 adhesion molecule, nephrin) on chromosome 19, position 35826626, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | TAGTCTGTGCTGATAAAAAATAACATTGTCATACAACAATTGGGGTGTATTTGTAAAAAAGAAAACAAAAGAAAAATAAATATATTGACAAACACGTGAACTAGAAAGTTTTGATAATATGGTTAATCAAGTAGAAGTGTGGTCTGAAGAAAGTCTGTTCTTCATGGAAACAGGTGGGCTTCTCAGCTATCCTGCTATTCAATAGAAAGATGGAGCCAGGCGTGGTGGCTCACGCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCTAACATGGT... | TAGTCTGTGCTGATAAAAAATAACATTGTCATACAACAATTGGGGTGTATTTGTAAAAAAGAAAACAAAAGAAAAATAAATATATTGACAAACACGTGAACTAGAAAGTTTTGATAATATGGTTAATCAAGTAGAAGTGTGGTCTGAAGAAAGTCTGTTCTTCATGGAAACAGGTGGGCTTCTCAGCTATCCTGCTATTCAATAGAAAGATGGAGCCAGGCGTGGTGGCTCACGCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCTAACATGGT... | pathogenic | 302,510 |
Variant at chromosome 19, position 35830863, gene NPHS1 (NPHS1 adhesion molecule, nephrin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | GCGTGCAGCCTCCATCTACGCTTTAGAGAGTGCATATGGTCCAGCACCATGGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACT... | GCGTGCAGCCTCCATCTACGCTTTAGAGAGTGCATATGGTCCAGCACCATGGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACT... | pathogenic | 302,518 |
Is the genetic variant on chromosome 19, position 35830883, gene NPHS1 (NPHS1 adhesion molecule, nephrin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | CTTTAGAGAGTGCATATGGTCCAGCACCATGGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACTCTCAGCCCAGTGACCTGAGT... | CTTTAGAGAGTGCATATGGTCCAGCACCATGGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACTCTCAGCCCAGTGACCTGAGT... | pathogenic | 302,519 |
Determine whether the variant at chromosome 19, position 35830883, in gene NPHS1 (NPHS1 adhesion molecule, nephrin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | CTTTAGAGAGTGCATATGGTCCAGCACCATGGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACTCTCAGCCCAGTGACCTGAGT... | CTTTAGAGAGTGCATATGGTCCAGCACCATGGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACTCTCAGCCCAGTGACCTGAGT... | pathogenic | 302,520 |
Variant in NPHS1 (NPHS1 adhesion molecule, nephrin), chromosome 19, position 35830889—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | AGAGTGCATATGGTCCAGCACCATGGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACTCTCAGCCCAGTGACCTGAGTGGGGCT... | AGAGTGCATATGGTCCAGCACCATGGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACTCTCAGCCCAGTGACCTGAGTGGGGCT... | pathogenic | 302,521 |
Variant on chromosome 19, at position 35830913, affecting NPHS1 (NPHS1 adhesion molecule, nephrin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | GGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACTCTCAGCCCAGTGACCTGAGTGGGGCTGGCCCCTACTCCCTGATCCCATGG... | GGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACTCTCAGCCCAGTGACCTGAGTGGGGCTGGCCCCTACTCCCTGATCCCATGG... | pathogenic | 302,524 |
Variant on chromosome 19, at position 35831347, affecting NPHS1 (NPHS1 adhesion molecule, nephrin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | GGGCCACTGGAAAACAGGTATACTCTTTCTTTGAAGATTTCTAATCTCGTAGGATACAAATCTAGATTTTCTGGGAATATTTTTTCCCTTTCTTTTTTGAAACAGTCTCTCAGGCTGGAATGCAGTGGCACAATCAGGGCTCATGGCAGCCTCAACTTCCCTGGCTCAGGCATTCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGGCATGCACCACCATGCCCAGTTAATTTTTTAAACTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCA... | GGGCCACTGGAAAACAGGTATACTCTTTCTTTGAAGATTTCTAATCTCGTAGGATACAAATCTAGATTTTCTGGGAATATTTTTTCCCTTTCTTTTTTGAAACAGTCTCTCAGGCTGGAATGCAGTGGCACAATCAGGGCTCATGGCAGCCTCAACTTCCCTGGCTCAGGCATTCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGGCATGCACCACCATGCCCAGTTAATTTTTTAAACTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCA... | pathogenic | 302,535 |
The genetic variant at chromosome 19, position 35831678, affecting gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Finnish_congenital_nephrotic_syndrome', 'Nephrotic_syndrome'] | CTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGC... | CTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGC... | pathogenic | 302,544 |
Chromosome 19, position 35831678, gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | CTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGC... | CTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGC... | pathogenic | 302,545 |
Variant chromosome 19, position 35831715, gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? Disease(s)? | pathogenic; ['Finnish_congenital_nephrotic_syndrome', 'Inborn_genetic_diseases'] | TAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAA... | TAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAA... | pathogenic | 302,550 |
Evaluate this variant at chromosome 19, position 35839284, gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | TAACATATTCATCATATTCAAGGAATTTGTCCTTCTCATCCAACTTGCTGAATTTATTGGAATAAAGTTATCCATAATATTCCCTAATTATCCTCTTAATGTCTGTGGAGTCTGTGGTAACATCCCTTCTTCCATTCCTGTTATTGGTAACTTGTATTTTCTCCCTTTTATTTGTCTTAATCAGATTTATAAATGTTATTGATTTTTTTCAAATAACCAGCTTCTGGTTTCATTGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTT... | TAACATATTCATCATATTCAAGGAATTTGTCCTTCTCATCCAACTTGCTGAATTTATTGGAATAAAGTTATCCATAATATTCCCTAATTATCCTCTTAATGTCTGTGGAGTCTGTGGTAACATCCCTTCTTCCATTCCTGTTATTGGTAACTTGTATTTTCTCCCTTTTATTTGTCTTAATCAGATTTATAAATGTTATTGATTTTTTTCAAATAACCAGCTTCTGGTTTCATTGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTT... | pathogenic | 302,554 |
Evaluate the clinical significance of the mutation at chromosome 19, position 35839284 in gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | TAACATATTCATCATATTCAAGGAATTTGTCCTTCTCATCCAACTTGCTGAATTTATTGGAATAAAGTTATCCATAATATTCCCTAATTATCCTCTTAATGTCTGTGGAGTCTGTGGTAACATCCCTTCTTCCATTCCTGTTATTGGTAACTTGTATTTTCTCCCTTTTATTTGTCTTAATCAGATTTATAAATGTTATTGATTTTTTTCAAATAACCAGCTTCTGGTTTCATTGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTT... | TAACATATTCATCATATTCAAGGAATTTGTCCTTCTCATCCAACTTGCTGAATTTATTGGAATAAAGTTATCCATAATATTCCCTAATTATCCTCTTAATGTCTGTGGAGTCTGTGGTAACATCCCTTCTTCCATTCCTGTTATTGGTAACTTGTATTTTCTCCCTTTTATTTGTCTTAATCAGATTTATAAATGTTATTGATTTTTTTCAAATAACCAGCTTCTGGTTTCATTGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTT... | pathogenic | 302,555 |
A mutation at chromosome position 35839333 on chromosome 19 in gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | GAATTTATTGGAATAAAGTTATCCATAATATTCCCTAATTATCCTCTTAATGTCTGTGGAGTCTGTGGTAACATCCCTTCTTCCATTCCTGTTATTGGTAACTTGTATTTTCTCCCTTTTATTTGTCTTAATCAGATTTATAAATGTTATTGATTTTTTTCAAATAACCAGCTTCTGGTTTCATTGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCT... | GAATTTATTGGAATAAAGTTATCCATAATATTCCCTAATTATCCTCTTAATGTCTGTGGAGTCTGTGGTAACATCCCTTCTTCCATTCCTGTTATTGGTAACTTGTATTTTCTCCCTTTTATTTGTCTTAATCAGATTTATAAATGTTATTGATTTTTTTCAAATAACCAGCTTCTGGTTTCATTGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCT... | pathogenic | 302,557 |
Regarding the variant found on chromosome 19 at position 35839355 in gene NPHS1 (NPHS1 adhesion molecule, nephrin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | CCATAATATTCCCTAATTATCCTCTTAATGTCTGTGGAGTCTGTGGTAACATCCCTTCTTCCATTCCTGTTATTGGTAACTTGTATTTTCTCCCTTTTATTTGTCTTAATCAGATTTATAAATGTTATTGATTTTTTTCAAATAACCAGCTTCTGGTTTCATTGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGG... | CCATAATATTCCCTAATTATCCTCTTAATGTCTGTGGAGTCTGTGGTAACATCCCTTCTTCCATTCCTGTTATTGGTAACTTGTATTTTCTCCCTTTTATTTGTCTTAATCAGATTTATAAATGTTATTGATTTTTTTCAAATAACCAGCTTCTGGTTTCATTGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGG... | pathogenic | 302,559 |
Regarding the variant found on chromosome 19 at position 35839517 in gene NPHS1 (NPHS1 adhesion molecule, nephrin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | TGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAG... | TGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAG... | pathogenic | 302,563 |
Considering the genetic mutation at chromosome 19, position 35839569, impacting NPHS1 (NPHS1 adhesion molecule, nephrin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | CATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTA... | CATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTA... | pathogenic | 302,566 |
Gene mutation in NPHS1 (NPHS1 adhesion molecule, nephrin) at chromosome 19, position 35839580—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | TCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTAATACACCCGCC... | TCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTAATACACCCGCC... | pathogenic | 302,567 |
Regarding the variant at chromosome 19 and position 35841775, affecting gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | CTCATGTTCTGTAAGGTCATGGTGAACACTGCTCTGGCAAACACCAAACTGTCCCTGTAATCCCAGTACTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCC... | CTCATGTTCTGTAAGGTCATGGTGAACACTGCTCTGGCAAACACCAAACTGTCCCTGTAATCCCAGTACTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCC... | pathogenic | 302,569 |
Mutation at chromosome 19, position 35841843, within NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | CTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTC... | CTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTC... | pathogenic | 302,572 |
The mutation impacting NPHS1 (NPHS1 adhesion molecule, nephrin) on chromosome 19 at position 35842114: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | GCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGA... | GCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGA... | pathogenic | 302,574 |
Clinically, how would you classify the variant at chromosome 19, position 35842153, gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | AGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCT... | AGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCT... | pathogenic | 302,579 |
Does the variant impacting NPHS1 (NPHS1 adhesion molecule, nephrin) on chromosome 19, position 35842179, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | AGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCT... | AGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCT... | pathogenic | 302,581 |
Regarding the variant found on chromosome 19 at position 35842243 in gene NPHS1 (NPHS1 adhesion molecule, nephrin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | GGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTT... | GGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTT... | pathogenic | 302,584 |
Gene NPHS1 (NPHS1 adhesion molecule, nephrin) variant at chromosome position 35842271 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | TCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAG... | TCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAG... | pathogenic | 302,586 |
Evaluate the clinical significance of the mutation at chromosome 19, position 35842472 in gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | TCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGC... | TCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGC... | pathogenic | 302,593 |
Gene NPHS1 (NPHS1 adhesion molecule, nephrin) variant at chromosome 19, position 35842497—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | CTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCA... | CTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCA... | pathogenic | 302,596 |
A genetic alteration at chromosome 19, position 35843479, in gene NPHS1 (NPHS1 adhesion molecule, nephrin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | GAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGC... | GAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGC... | pathogenic | 302,601 |
Mutation found at chromosome 19 position 35844096, gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | GGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGG... | GGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGG... | pathogenic | 302,609 |
The chromosome 19, position 35844141 genetic variant in gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | TGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGG... | TGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGG... | pathogenic | 302,611 |
The mutation in gene NPHS1 (NPHS1 adhesion molecule, nephrin) at chromosome 19, position 35844151—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | CCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACC... | CCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACC... | pathogenic | 302,612 |
Evaluate if the mutation on chromosome 19 at position 35844154 in NPHS1 (NPHS1 adhesion molecule, nephrin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | GGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCA... | GGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCA... | pathogenic | 302,613 |
Does the chromosome 19 mutation at position 35844177 within gene NPHS1 (NPHS1 adhesion molecule, nephrin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | ATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGC... | ATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGC... | pathogenic | 302,614 |
Evaluate if the mutation on chromosome 19 at position 35844178 in NPHS1 (NPHS1 adhesion molecule, nephrin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | TCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCG... | TCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCG... | pathogenic | 302,615 |
Is the genetic mutation found on chromosome 19 at position 35844200, within the gene NPHS1 (NPHS1 adhesion molecule, nephrin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | CGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCAT... | CGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCAT... | pathogenic | 302,620 |
Determine if the mutation at chromosome 19, position 35844231 in gene NPHS1 (NPHS1 adhesion molecule, nephrin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | GACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCT... | GACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCT... | pathogenic | 302,621 |
Gene mutation in NPHS1 (NPHS1 adhesion molecule, nephrin) at chromosome 19, position 35844365—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | GAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCT... | GAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCT... | pathogenic | 302,624 |
Chromosome 19, position 35844418, gene NPHS1 (NPHS1 adhesion molecule, nephrin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | AATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGT... | AATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGT... | pathogenic | 302,627 |
Determine whether the variant at chromosome 19, position 35845482, in gene NPHS1 (NPHS1 adhesion molecule, nephrin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | TTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGT... | TTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGT... | pathogenic | 302,636 |
Is chromosome 19, position 35845512, gene NPHS1 (NPHS1 adhesion molecule, nephrin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | ATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGC... | ATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGC... | pathogenic | 302,637 |
Mutation at chromosome 19, position 35845680, within NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | CAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTG... | CAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTG... | pathogenic | 302,639 |
Considering the variant on chromosome 19, location 35846103, involving gene NPHS1 (NPHS1 adhesion molecule, nephrin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | GGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTA... | GGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTA... | pathogenic | 302,646 |
Classify the chromosome 19 variant at position 35846153 affecting gene NPHS1 (NPHS1 adhesion molecule, nephrin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | TGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCAC... | TGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCAC... | pathogenic | 302,648 |
Is the genetic change at chromosome 19, position 35848259, within gene NPHS1 (NPHS1 adhesion molecule, nephrin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | ACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTG... | ACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTG... | pathogenic | 302,657 |
Clinical significance of chromosome 19, position 35848292, gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | CAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTG... | CAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTG... | pathogenic | 302,659 |
Benign or pathogenic: chromosome 19, position 35848332, gene NPHS1 (NPHS1 adhesion molecule, nephrin) variant? Disease(s) if pathogenic? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | GCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTC... | GCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTC... | pathogenic | 302,660 |
Variant chromosome 19, position 35848395, gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? Disease(s)? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | GGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCA... | GGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCA... | pathogenic | 302,665 |
Variant on chromosome 19, at position 35848786, affecting NPHS1 (NPHS1 adhesion molecule, nephrin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | ATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTT... | ATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTT... | pathogenic | 302,677 |
Regarding the variant found on chromosome 19 at position 35849228 in gene NPHS1 (NPHS1 adhesion molecule, nephrin): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGC... | GGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGC... | benign | 302,692 |
The mutation in gene NPHS1 (NPHS1 adhesion molecule, nephrin) at chromosome 19, position 35849259—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | AATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTA... | AATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTA... | pathogenic | 302,694 |
Chromosome 19, position 35849346, gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAA... | GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAA... | pathogenic | 302,701 |
Is the genetic mutation found on chromosome 19 at position 35849590, within the gene NPHS1 (NPHS1 adhesion molecule, nephrin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | GACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGAT... | GACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGAT... | pathogenic | 302,707 |
Evaluate this variant at chromosome 19, position 35849640, gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | GTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACC... | GTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACC... | pathogenic | 302,708 |
A mutation at chromosome position 35849641 on chromosome 19 in gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Finnish_congenital_nephrotic_syndrome', 'Nephrotic_syndrome'] | TGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCT... | TGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCT... | pathogenic | 302,709 |
Variant at chromosome 19, position 35849642, gene NPHS1 (NPHS1 adhesion molecule, nephrin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Finnish_congenital_nephrotic_syndrome', 'NPHS1-related_disorder', 'Nephrotic_syndrome'] | GATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTC... | GATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTC... | pathogenic | 302,710 |
The chromosome 19, position 35850437 genetic variant in gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | ATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCG... | ATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCG... | pathogenic | 302,717 |
The mutation in gene NPHS1 (NPHS1 adhesion molecule, nephrin) at chromosome 19, position 35850969—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome', 'Nephrotic_syndrome'] | CAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCA... | CAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCA... | pathogenic | 302,721 |
Clinically, how would you classify the variant at chromosome 19, position 35851482, gene NPHS1: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | TTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGG... | TTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGG... | pathogenic | 302,743 |
For chromosome 19, position 35851505, gene NPHS1: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | TGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCC... | TGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCC... | pathogenic | 302,745 |
Variant in NPHS1, chromosome 19, position 35851591—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Finnish_congenital_nephrotic_syndrome', 'Infantile_Nephrotic_syndrome', 'Nephrotic_syndrome'] | CACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTT... | CACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTT... | pathogenic | 302,748 |
Is the variant located on chromosome 19 at position 35851608, gene NPHS1, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Finnish_congenital_nephrotic_syndrome', 'NPHS1-related_disorder'] | CACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTA... | CACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTA... | pathogenic | 302,749 |
Determine whether the variant at chromosome 19, position 35851627, in gene NPHS1 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | ATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAA... | ATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAA... | pathogenic | 302,751 |
Mutation at chromosome 19, position 35851792, within NPHS1: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Finnish_congenital_nephrotic_syndrome'] | CCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATG... | CCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATG... | pathogenic | 302,755 |
The mutation impacting SYNE4 (spectrin repeat containing nuclear envelope family member 4) on chromosome 19 at position 36006587: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | GCCTTCCACTCCCAGACCTTCAGGTTCAAGTGAAGCTGACAGCCACCTCCCCAACTTCCATGATTGGTGTGACCCAGACCTGGCCAATCTGAGCACTCTGGTTTATTCAAGGTGCAGCCCATGACCCCATCCGGTAAGTGGGAGTCAGCCCTGGGACTTTGGCAGCTGTCAGTAGGGTCGGAGGCATGCTCCTTCCCCTGGGGTGGGTAAACCAGTGGGAGTGGCAGTGTAGCCACTGGAGCACCCATTTTGCTAAGAAGGAAGCCACCTTGGGGACTTAGAGCCCAAGAAAGGGAGGGACTGAGCCCTGATGTTATTTC... | GCCTTCCACTCCCAGACCTTCAGGTTCAAGTGAAGCTGACAGCCACCTCCCCAACTTCCATGATTGGTGTGACCCAGACCTGGCCAATCTGAGCACTCTGGTTTATTCAAGGTGCAGCCCATGACCCCATCCGGTAAGTGGGAGTCAGCCCTGGGACTTTGGCAGCTGTCAGTAGGGTCGGAGGCATGCTCCTTCCCCTGGGGTGGGTAAACCAGTGGGAGTGGCAGTGTAGCCACTGGAGCACCCATTTTGCTAAGAAGGAAGCCACCTTGGGGACTTAGAGCCCAAGAAAGGGAGGGACTGAGCCCTGATGTTATTTC... | pathogenic | 302,799 |
Is the genetic variant on chromosome 19, position 36006623, gene SYNE4 (spectrin repeat containing nuclear envelope family member 4), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_76'] | TGACAGCCACCTCCCCAACTTCCATGATTGGTGTGACCCAGACCTGGCCAATCTGAGCACTCTGGTTTATTCAAGGTGCAGCCCATGACCCCATCCGGTAAGTGGGAGTCAGCCCTGGGACTTTGGCAGCTGTCAGTAGGGTCGGAGGCATGCTCCTTCCCCTGGGGTGGGTAAACCAGTGGGAGTGGCAGTGTAGCCACTGGAGCACCCATTTTGCTAAGAAGGAAGCCACCTTGGGGACTTAGAGCCCAAGAAAGGGAGGGACTGAGCCCTGATGTTATTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGT... | TGACAGCCACCTCCCCAACTTCCATGATTGGTGTGACCCAGACCTGGCCAATCTGAGCACTCTGGTTTATTCAAGGTGCAGCCCATGACCCCATCCGGTAAGTGGGAGTCAGCCCTGGGACTTTGGCAGCTGTCAGTAGGGTCGGAGGCATGCTCCTTCCCCTGGGGTGGGTAAACCAGTGGGAGTGGCAGTGTAGCCACTGGAGCACCCATTTTGCTAAGAAGGAAGCCACCTTGGGGACTTAGAGCCCAAGAAAGGGAGGGACTGAGCCCTGATGTTATTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGT... | pathogenic | 302,801 |
The genetic variant at chromosome 19, position 36007170, affecting gene SYNE4 (spectrin repeat containing nuclear envelope family member 4): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_76', 'Nonsyndromic_genetic_hearing_loss'] | CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGGCCCTGGTATTACTTCAGGCTCTGAATTCAACAGTGCCTGGACCTTTCCATTACTTTTTTTTTTTTTAATAGCATTCCCTTTCTTGTGCCTTTTGATTTCTTGGGTTTCTGTCACTTGCCATCAAGATTCCTGAGTGCTACACCTGGTTGAGAACTGGCTCACCTGAGGCTTCCGGAGCAGGGAGTGTCTTTGGTGACGTGCTAAGCGTTTCTGGTGGCCGAGGCCAGACTCCAGCATGTCCTGTCGGGAGTGAGAGGTGTCTGCTTCCTGG... | CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGGCCCTGGTATTACTTCAGGCTCTGAATTCAACAGTGCCTGGACCTTTCCATTACTTTTTTTTTTTTTAATAGCATTCCCTTTCTTGTGCCTTTTGATTTCTTGGGTTTCTGTCACTTGCCATCAAGATTCCTGAGTGCTACACCTGGTTGAGAACTGGCTCACCTGAGGCTTCCGGAGCAGGGAGTGTCTTTGGTGACGTGCTAAGCGTTTCTGGTGGCCGAGGCCAGACTCCAGCATGTCCTGTCGGGAGTGAGAGGTGTCTGCTTCCTGG... | pathogenic | 302,810 |
Variant in gene SYNE4 (spectrin repeat containing nuclear envelope family member 4), located at chromosome 19 position 36008236: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_76'] | GGGGCATCATCTGGGGGCCTCAGGATAGGAGTGAATTTGAGATGGGGCTTGAGGATGTAGACAGAGACAGACGAGAGAGAGAAACAGTGAGATAGAAGGAGACACCGAGAGACAGAGATAGAGGGGGAGACAGAGCCACTGACACCTCCTTGGAAGGGCAGGATCTTGCTAGAAGGTGCGCAGAGATGTCCCCAGGGTGCCTGGCAGAAGGTCCCTCAAGGGGGTCTGCTCTCACCTCAAGGCCTTGTCCCCTGCCCTGGGGCCCCCTCTGGCCACACAGCTCACAGGGCACTCCTAGTGTCCGGGCTGTCTTTTGTCCC... | GGGGCATCATCTGGGGGCCTCAGGATAGGAGTGAATTTGAGATGGGGCTTGAGGATGTAGACAGAGACAGACGAGAGAGAGAAACAGTGAGATAGAAGGAGACACCGAGAGACAGAGATAGAGGGGGAGACAGAGCCACTGACACCTCCTTGGAAGGGCAGGATCTTGCTAGAAGGTGCGCAGAGATGTCCCCAGGGTGCCTGGCAGAAGGTCCCTCAAGGGGGTCTGCTCTCACCTCAAGGCCTTGTCCCCTGCCCTGGGGCCCCCTCTGGCCACACAGCTCACAGGGCACTCCTAGTGTCCGGGCTGTCTTTTGTCCC... | pathogenic | 302,814 |
A genetic variant on chromosome 19, position 36008559, affects the gene SYNE4 (spectrin repeat containing nuclear envelope family member 4). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_76'] | GGCCCAAGGCCCCCAATGTCCCCCGCCGGATCCCACTCCAACTCTGTGGAAGTGGGGAGGCTACTGGGTGCCCAGGGCCCCCAGACCCCACCAGGTCCTGGCCAGTCCGAGTCTCCCTCGACCTCCAAGTCCTGGTCCAGCGTGTTGGCCTCCTCGAACACCTGGGTCAAAGGACAGAGGTCATGGAGGCTATGAGGTTGGGGCCTGGGTTGGGTGGGGGGTATCAAGATGGGCCCTACCAGGCTGTAGCTGACCAGCTGGGCCTGCAGCTGCCAGAGCCGCCGGAAGATGGAGTCTCGGTAAGCTCCCAGGGCCCGCAG... | GGCCCAAGGCCCCCAATGTCCCCCGCCGGATCCCACTCCAACTCTGTGGAAGTGGGGAGGCTACTGGGTGCCCAGGGCCCCCAGACCCCACCAGGTCCTGGCCAGTCCGAGTCTCCCTCGACCTCCAAGTCCTGGTCCAGCGTGTTGGCCTCCTCGAACACCTGGGTCAAAGGACAGAGGTCATGGAGGCTATGAGGTTGGGGCCTGGGTTGGGTGGGGGGTATCAAGATGGGCCCTACCAGGCTGTAGCTGACCAGCTGGGCCTGCAGCTGCCAGAGCCGCCGGAAGATGGAGTCTCGGTAAGCTCCCAGGGCCCGCAG... | pathogenic | 302,821 |
Regarding the variant found on chromosome 19 at position 36008585 in gene SYNE4 (spectrin repeat containing nuclear envelope family member 4): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_76'] | CGGATCCCACTCCAACTCTGTGGAAGTGGGGAGGCTACTGGGTGCCCAGGGCCCCCAGACCCCACCAGGTCCTGGCCAGTCCGAGTCTCCCTCGACCTCCAAGTCCTGGTCCAGCGTGTTGGCCTCCTCGAACACCTGGGTCAAAGGACAGAGGTCATGGAGGCTATGAGGTTGGGGCCTGGGTTGGGTGGGGGGTATCAAGATGGGCCCTACCAGGCTGTAGCTGACCAGCTGGGCCTGCAGCTGCCAGAGCCGCCGGAAGATGGAGTCTCGGTAAGCTCCCAGGGCCCGCAGGATCTGCTCCAGGGCTGCCCAGGCCC... | CGGATCCCACTCCAACTCTGTGGAAGTGGGGAGGCTACTGGGTGCCCAGGGCCCCCAGACCCCACCAGGTCCTGGCCAGTCCGAGTCTCCCTCGACCTCCAAGTCCTGGTCCAGCGTGTTGGCCTCCTCGAACACCTGGGTCAAAGGACAGAGGTCATGGAGGCTATGAGGTTGGGGCCTGGGTTGGGTGGGGGGTATCAAGATGGGCCCTACCAGGCTGTAGCTGACCAGCTGGGCCTGCAGCTGCCAGAGCCGCCGGAAGATGGAGTCTCGGTAAGCTCCCAGGGCCCGCAGGATCTGCTCCAGGGCTGCCCAGGCCC... | pathogenic | 302,822 |
Clinical classification of chromosome 19, position 36091247, gene WDR62 (WD repeat domain 62): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Microcephaly_2,_primary,_autosomal_recessive,_with_or_without_cortical_malformations'] | ACACTTTGTCCGTACCCACCACGTAGCAGAGAAAACCACCTTGTATGACATGGACATTGACATCACCCAGAAGTACGTGGCCGTGGCCTGCCAGGACCGCAATGTGAGGTAAGGGGTGGCCCTGGACCCTTAGCTGGCCTGGTCTGCCTTGTCCTAGGCTGTCTGCTTTCCTCCCTCTGTTCCTCTGGTCCCCAAGAAGCTGGGAAGGAATTGAGGGACCCAGCAGGTGTTCCTTCTTGGTTTTTTTTTGTTTTTGTTTTTGAGGCAGAGTCTTGCTCTGTTGCCCATGCTAGAGTGCAGTGGCACCATTTTAGCTCACT... | ACACTTTGTCCGTACCCACCACGTAGCAGAGAAAACCACCTTGTATGACATGGACATTGACATCACCCAGAAGTACGTGGCCGTGGCCTGCCAGGACCGCAATGTGAGGTAAGGGGTGGCCCTGGACCCTTAGCTGGCCTGGTCTGCCTTGTCCTAGGCTGTCTGCTTTCCTCCCTCTGTTCCTCTGGTCCCCAAGAAGCTGGGAAGGAATTGAGGGACCCAGCAGGTGTTCCTTCTTGGTTTTTTTTTGTTTTTGTTTTTGAGGCAGAGTCTTGCTCTGTTGCCCATGCTAGAGTGCAGTGGCACCATTTTAGCTCACT... | pathogenic | 302,887 |
The mutation in gene WDR62 (WD repeat domain 62) at chromosome 19, position 36094090—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | GGCTCACGCCTGTGATCCCAGCACTTTGGGAGGCCTAGGTGGATGGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGAGAAACTGTGTCTCTACTAAAAATACAAAAATTAGCTGTGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCATGAGAATGACCTGAACCTGGGAGGTAGAAGTTGCAGTGAGCTGAGATCGCGTCACTGCACCCTAGCCTGGGTGACAGAGCAAGACTCTCTCAAAAAAAAAAAAAAAAGAAAATTGTATGGTGAGAAATGAATGAGATGATATAC... | GGCTCACGCCTGTGATCCCAGCACTTTGGGAGGCCTAGGTGGATGGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGAGAAACTGTGTCTCTACTAAAAATACAAAAATTAGCTGTGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCATGAGAATGACCTGAACCTGGGAGGTAGAAGTTGCAGTGAGCTGAGATCGCGTCACTGCACCCTAGCCTGGGTGACAGAGCAAGACTCTCTCAAAAAAAAAAAAAAAAGAAAATTGTATGGTGAGAAATGAATGAGATGATATAC... | pathogenic | 302,900 |
Is the genetic change at chromosome 19, position 36100749, within gene WDR62 (WD repeat domain 62) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Microcephaly_2,_primary,_autosomal_recessive,_with_or_without_cortical_malformations'] | GTGCAGAGGAAATGAGTTGAGTTGTCAGCATGTTAACTTTGAAATACCTACCAGACATCCATACAGAAATGTAGAGCAGTCACATGTGCAATTCTGAAGTTTCAGAGAAAAGTTCATGAATCCCAGCTGGGCATTCCCAGCACTTTGGGAGGCCGAAACAGGATTCCTTGAGCCCAAGGGTTTGAGACCAGCCTGAGCAACATAGTGAGAGTCCACCTCTACCAAAAACCAACAAAATGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCCGAGGCGGGCGGATCACTTGAGGTCAGCAGTTTG... | GTGCAGAGGAAATGAGTTGAGTTGTCAGCATGTTAACTTTGAAATACCTACCAGACATCCATACAGAAATGTAGAGCAGTCACATGTGCAATTCTGAAGTTTCAGAGAAAAGTTCATGAATCCCAGCTGGGCATTCCCAGCACTTTGGGAGGCCGAAACAGGATTCCTTGAGCCCAAGGGTTTGAGACCAGCCTGAGCAACATAGTGAGAGTCCACCTCTACCAAAAACCAACAAAATGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCCGAGGCGGGCGGATCACTTGAGGTCAGCAGTTTG... | pathogenic | 302,911 |
Considering the genetic mutation at chromosome 19, position 36100866, impacting WDR62 (WD repeat domain 62): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['WDR62-related_disorder'] | GAATCCCAGCTGGGCATTCCCAGCACTTTGGGAGGCCGAAACAGGATTCCTTGAGCCCAAGGGTTTGAGACCAGCCTGAGCAACATAGTGAGAGTCCACCTCTACCAAAAACCAACAAAATGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCCGAGGCGGGCGGATCACTTGAGGTCAGCAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGACAGGAGAATTG... | GAATCCCAGCTGGGCATTCCCAGCACTTTGGGAGGCCGAAACAGGATTCCTTGAGCCCAAGGGTTTGAGACCAGCCTGAGCAACATAGTGAGAGTCCACCTCTACCAAAAACCAACAAAATGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCCGAGGCGGGCGGATCACTTGAGGTCAGCAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGACAGGAGAATTG... | pathogenic | 302,913 |
The genetic variant at chromosome 19, position 36103555, affecting gene WDR62 (WD repeat domain 62): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Microcephaly_2,_primary,_autosomal_recessive,_with_or_without_cortical_malformations'] | CCTTGATGTGGAACTTCCCTTATTCATAAAATGGGGGGCAGCTGCTCTTACCATCCCTCCTCCAGATGGGGAAACTGAGCCCAGGGAAGGGTAGCCCTGGCCCTGGCTCACCAGAATGGTCAGGCTGTGGGCTCCTGACCCCGACTCTGTCCTTCAGACTCGGGGGAGTCAGAGGCCGACCTGGAGTGCAGCTTCGCAGCCATCCACTCCCCAGCTCCGCCTCCTGACCCTGCCCCTCGGTTTGCCACGTCGCTGCCCCATTTCCCAGGTAAGCAGGGGCCAGACACGCAGGGGACTCGCTGCTCGGGCCTGGCTTAGGG... | CCTTGATGTGGAACTTCCCTTATTCATAAAATGGGGGGCAGCTGCTCTTACCATCCCTCCTCCAGATGGGGAAACTGAGCCCAGGGAAGGGTAGCCCTGGCCCTGGCTCACCAGAATGGTCAGGCTGTGGGCTCCTGACCCCGACTCTGTCCTTCAGACTCGGGGGAGTCAGAGGCCGACCTGGAGTGCAGCTTCGCAGCCATCCACTCCCCAGCTCCGCCTCCTGACCCTGCCCCTCGGTTTGCCACGTCGCTGCCCCATTTCCCAGGTAAGCAGGGGCCAGACACGCAGGGGACTCGCTGCTCGGGCCTGGCTTAGGG... | pathogenic | 302,939 |
Classify the chromosome 19 variant at position 36104594 affecting gene WDR62 (WD repeat domain 62) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Microcephaly_2,_primary,_autosomal_recessive,_with_or_without_cortical_malformations'] | CCACCGTGCCCGGCCCACTGCTTCACTCTTGACCTGAGCCTCACGATGCCTCCTCACCCACTGCCCCTGCTCGTACCCTGTGTCTGTACATAAGGGTTTCTGGGGAGTGCCCCGCTGGGCTGTGGGCTGGCCTAGGGCCAGGGCTGCTCGGCGGGAAGGGTTATGAGGGTCCCCTCGGGATCTTCCCCTAGAGCTCTTCCCCGCAGCTCTGGGAGACGTGGAGGCCTCTGAAGCTGAAGACCACTTCTTCAACCCACGCCTGAGTATCTCCACGCAGTTCCTCTCAAGCCTCCAGAAGGCATCCAGGTAGAAGCTGGCCA... | CCACCGTGCCCGGCCCACTGCTTCACTCTTGACCTGAGCCTCACGATGCCTCCTCACCCACTGCCCCTGCTCGTACCCTGTGTCTGTACATAAGGGTTTCTGGGGAGTGCCCCGCTGGGCTGTGGGCTGGCCTAGGGCCAGGGCTGCTCGGCGGGAAGGGTTATGAGGGTCCCCTCGGGATCTTCCCCTAGAGCTCTTCCCCGCAGCTCTGGGAGACGTGGAGGCCTCTGAAGCTGAAGACCACTTCTTCAACCCACGCCTGAGTATCTCCACGCAGTTCCTCTCAAGCCTCCAGAAGGCATCCAGGTAGAAGCTGGCCA... | pathogenic | 302,953 |
Evaluate if the mutation on chromosome 19 at position 37886743 in WDR87 (WD repeat domain 87) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGATTTGCTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCTGAGATCGTGTCATTGCACTCCAGCCTGGGCAATAAGAGTGAAACACCGTCTCAAAAAAAAAAAAAAGAGAGAGAGAGAGATGAAGGTCTAGATCCTGGTAATTAGGCCTTTCTCCAGTTGGCAATGAAAAGTCCCAGCCTCCAGTCAGTCCCAAATTAGAGAGTGGGAGCAACGGTGTGTGTCAGTGCCTTGGTGAGATGAAGATCAGCTTCAGGCAGGCTCTTCCAGGCAAGTTCTA... | GCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGATTTGCTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCTGAGATCGTGTCATTGCACTCCAGCCTGGGCAATAAGAGTGAAACACCGTCTCAAAAAAAAAAAAAAGAGAGAGAGAGAGATGAAGGTCTAGATCCTGGTAATTAGGCCTTTCTCCAGTTGGCAATGAAAAGTCCCAGCCTCCAGTCAGTCCCAAATTAGAGAGTGGGAGCAACGGTGTGTGTCAGTGCCTTGGTGAGATGAAGATCAGCTTCAGGCAGGCTCTTCCAGGCAAGTTCTA... | benign | 302,982 |
A genetic variant at chromosome 19, position 37886746, affecting gene WDR87 (WD repeat domain 87)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGATTTGCTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCTGAGATCGTGTCATTGCACTCCAGCCTGGGCAATAAGAGTGAAACACCGTCTCAAAAAAAAAAAAAAGAGAGAGAGAGAGATGAAGGTCTAGATCCTGGTAATTAGGCCTTTCTCCAGTTGGCAATGAAAAGTCCCAGCCTCCAGTCAGTCCCAAATTAGAGAGTGGGAGCAACGGTGTGTGTCAGTGCCTTGGTGAGATGAAGATCAGCTTCAGGCAGGCTCTTCCAGGCAAGTTCTAAGA... | CACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGATTTGCTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCTGAGATCGTGTCATTGCACTCCAGCCTGGGCAATAAGAGTGAAACACCGTCTCAAAAAAAAAAAAAAGAGAGAGAGAGAGATGAAGGTCTAGATCCTGGTAATTAGGCCTTTCTCCAGTTGGCAATGAAAAGTCCCAGCCTCCAGTCAGTCCCAAATTAGAGAGTGGGAGCAACGGTGTGTGTCAGTGCCTTGGTGAGATGAAGATCAGCTTCAGGCAGGCTCTTCCAGGCAAGTTCTAAGA... | benign | 302,983 |
A mutation at chromosome position 38081727 on chromosome 19 in gene SIPA1L3 (signal induced proliferation associated 1 like 3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAGCTGCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGACTGCAGGTGTGAGCCACCGTGCCCAGCCGGAAGTCCCCATGGAAGAACTGACATCATGGGAAGGAACCAGCCCCAAGAAGGACTGAGGAAGGATATCAGATGTCCTGGATAAGGTTTGGTGCATCAGAACAGAAAAGAAGGCCAGTATGATCAGAGCTTAGTCAGGGATGG... | CTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAGCTGCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGACTGCAGGTGTGAGCCACCGTGCCCAGCCGGAAGTCCCCATGGAAGAACTGACATCATGGGAAGGAACCAGCCCCAAGAAGGACTGAGGAAGGATATCAGATGTCCTGGATAAGGTTTGGTGCATCAGAACAGAAAAGAAGGCCAGTATGATCAGAGCTTAGTCAGGGATGG... | benign | 303,027 |
The genetic variant at chromosome 19, position 38442354, affecting gene RYR1 (ryanodine receptor 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'RYR1-related_disorder'] | AAATGGGATGATTACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCGAAACCTTGTCTCTACTAAAAATATAAAAATTAGCCAGGTGTGGTGGTGCACGCTTGTAATTTCAGCTATTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGCTGCAGTGGGCTGAGATTGCACCACTGTGCTCCAGCCTGGGCAACAGAGACTATTTCAAATAAATAAATAATAAAAAATAAAATAAATGGGATGATGCTGGCTTGTATCTCAAGGAGTTGTCAGGAGCAGGTAGAGGGCTTGGGTGGGTT... | AAATGGGATGATTACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCGAAACCTTGTCTCTACTAAAAATATAAAAATTAGCCAGGTGTGGTGGTGCACGCTTGTAATTTCAGCTATTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGCTGCAGTGGGCTGAGATTGCACCACTGTGCTCCAGCCTGGGCAACAGAGACTATTTCAAATAAATAAATAATAAAAAATAAAATAAATGGGATGATGCTGGCTTGTATCTCAAGGAGTTGTCAGGAGCAGGTAGAGGGCTTGGGTGGGTT... | pathogenic | 303,142 |
Variant in gene RYR1 (ryanodine receptor 1), located at chromosome 19 position 38444710: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TCCTGACCCCAGGCAGGCCCGTCTCTCAGGCCCACGCCCTGCACACAGGGGCTGGAGGGTCCTCCCCCACCCCAGTTGTCAGGGGCTGTGGAGCCCAGAACAGGCCAGGCAGGAAGGAAGGAAGGGGATGGGGGCTTCTGAGCCCCTGTCCCCGACGCCTGCTCCTTTCTCCTCTTTCCAGTCCTTTCCCCCAACCCTGATCCCAGCTCCTCTCCGCATGGGACCTCTCCCACCTCCCCCATCCCAAGCGTGAGTCCCTCTGGTCCAGGAGTGGGTCCACCATGTGATCACCTGGCCCCATCACATGGTACCCCCATGGC... | TCCTGACCCCAGGCAGGCCCGTCTCTCAGGCCCACGCCCTGCACACAGGGGCTGGAGGGTCCTCCCCCACCCCAGTTGTCAGGGGCTGTGGAGCCCAGAACAGGCCAGGCAGGAAGGAAGGAAGGGGATGGGGGCTTCTGAGCCCCTGTCCCCGACGCCTGCTCCTTTCTCCTCTTTCCAGTCCTTTCCCCCAACCCTGATCCCAGCTCCTCTCCGCATGGGACCTCTCCCACCTCCCCCATCCCAAGCGTGAGTCCCTCTGGTCCAGGAGTGGGTCCACCATGTGATCACCTGGCCCCATCACATGGTACCCCCATGGC... | benign | 303,182 |
Chromosome 19, position 38446461, gene RYR1 (ryanodine receptor 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTTCTGACCTCCCATTGCCCGACTTGATCATTTCCTGATCTGTGATCTCTGATGACTCTGTCTCCCATCTGCCGGTTTCCGGGTATCCACCCTTGATTTCTGGCCTCTGACGCTGGGACTCTCGCCCACCCCTGCAATCGTCTCTGACTGCCGCATCCTGGTGGCCCCCAGCACCTGTCGACCGCCAGTGGGGAGCTCCAGGTTGACGCTTCCTTCATGCAGACACTATGGAACATGAACCCCATCTGCTCCCGCTGCGAAGAGGGTGAGGGCCCCAGACCTCCCCCTAAATGGAGATCCCCCCAAAACAGACCCTTAAT... | TTTCTGACCTCCCATTGCCCGACTTGATCATTTCCTGATCTGTGATCTCTGATGACTCTGTCTCCCATCTGCCGGTTTCCGGGTATCCACCCTTGATTTCTGGCCTCTGACGCTGGGACTCTCGCCCACCCCTGCAATCGTCTCTGACTGCCGCATCCTGGTGGCCCCCAGCACCTGTCGACCGCCAGTGGGGAGCTCCAGGTTGACGCTTCCTTCATGCAGACACTATGGAACATGAACCCCATCTGCTCCCGCTGCGAAGAGGGTGAGGGCCCCAGACCTCCCCCTAAATGGAGATCCCCCCAAAACAGACCCTTAAT... | benign | 303,184 |
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