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 |
|---|---|---|---|---|---|
Variant chromosome 22, position 18079991, gene PEX26 (peroxisomal biogenesis factor 26): benign or pathogenic? Disease(s)? | pathogenic; ['Peroxisome_biogenesis_disorder_7A_(Zellweger)', 'Peroxisome_biogenesis_disorder_7B'] | AGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGG... | AGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGG... | pathogenic | 321,867 |
A genetic variant at chromosome 22, position 18083677, affecting gene PEX26 (peroxisomal biogenesis factor 26)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Peroxisome_biogenesis_disorder_7A_(Zellweger)', 'Peroxisome_biogenesis_disorder_7B'] | TGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTG... | TGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTG... | pathogenic | 321,874 |
A mutation at chromosome position 18124323 on chromosome 22 in gene TUBA8 (tubulin alpha 8): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | ACTCTCAGTTGAATATCAGGATTTCCCCAGCTCCAAGCCTGGCTCCTCAAGCCAGAGATGGACAGTTCTGCAAAGAGGACTGGGCACGAAGTATATGCCTGGACACCAATGTCTAGGGGCAACAGAGGGCAGATGCTCCACCCCCTGGATGCTTTGCACCAATGCACAAAGTGCAGGTTACCTCCTGGGCCACTGCACAGATGATTTTTCTGCAGGGAGTAGAGGAACCCCGAAGAGAAGAGGTGACATAGTTGGGGCCTGATGTGTCTTGATCTGCTCTGTATCCGCTTTGTGTGGACCCTTGGAAGTGAGCAGAGACC... | ACTCTCAGTTGAATATCAGGATTTCCCCAGCTCCAAGCCTGGCTCCTCAAGCCAGAGATGGACAGTTCTGCAAAGAGGACTGGGCACGAAGTATATGCCTGGACACCAATGTCTAGGGGCAACAGAGGGCAGATGCTCCACCCCCTGGATGCTTTGCACCAATGCACAAAGTGCAGGTTACCTCCTGGGCCACTGCACAGATGATTTTTCTGCAGGGAGTAGAGGAACCCCGAAGAGAAGAGGTGACATAGTTGGGGCCTGATGTGTCTTGATCTGCTCTGTATCCGCTTTGTGTGGACCCTTGGAAGTGAGCAGAGACC... | benign | 321,903 |
Variant in gene PRODH (proline dehydrogenase 1), located at chromosome 22 position 18922771: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TTCTAACAAACAGAACTTGCCAGAAAAGACACCGTGTGACTTCTGAGGCGAGGCAGGAAAAGGTCACCCAGCTTCTGCCTGGCTCTCACGTCTCAGGTGACACTGGCCCTTAGAGCCCAGCTGCCATGTTGGGAAAAAGCCCAAGCCACAGCCAGCACCAACTCCCAGACATGTGAATGGGTGCCTCCCCCAGGTCCCAGCGCCACCACTCTGTGAGTACAGCTACCCAGGAGACCCCAGGGGAGGACTGCCCAGCTGAGCCCTGTCAACCCCAGAACCATGAGGCAGAAGCAGAGTGGCTGCTGCCGTTTCAGGCCTCT... | TTCTAACAAACAGAACTTGCCAGAAAAGACACCGTGTGACTTCTGAGGCGAGGCAGGAAAAGGTCACCCAGCTTCTGCCTGGCTCTCACGTCTCAGGTGACACTGGCCCTTAGAGCCCAGCTGCCATGTTGGGAAAAAGCCCAAGCCACAGCCAGCACCAACTCCCAGACATGTGAATGGGTGCCTCCCCCAGGTCCCAGCGCCACCACTCTGTGAGTACAGCTACCCAGGAGACCCCAGGGGAGGACTGCCCAGCTGAGCCCTGTCAACCCCAGAACCATGAGGCAGAAGCAGAGTGGCTGCTGCCGTTTCAGGCCTCT... | benign | 321,968 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 18922937, gene PRODH (proline dehydrogenase 1). What disease(s) is it linked to if pathogenic? | benign | AGACATGTGAATGGGTGCCTCCCCCAGGTCCCAGCGCCACCACTCTGTGAGTACAGCTACCCAGGAGACCCCAGGGGAGGACTGCCCAGCTGAGCCCTGTCAACCCCAGAACCATGAGGCAGAAGCAGAGTGGCTGCTGCCGTTTCAGGCCTCTGAAGTTTGGGGTGACCTGATGCACAAGACAGATGACTTGGGGAAGGCCCCCAGACCCCCTCTCCTTGTGGTGTCTTAAGGCTCCGCGTGGGTCTCTGTCCCGCCAAGCACTCTGTGGACACTAGTGGGCTTGTCTTCTTCCCCCTGGACCACAGGGGGTCTGTGGG... | AGACATGTGAATGGGTGCCTCCCCCAGGTCCCAGCGCCACCACTCTGTGAGTACAGCTACCCAGGAGACCCCAGGGGAGGACTGCCCAGCTGAGCCCTGTCAACCCCAGAACCATGAGGCAGAAGCAGAGTGGCTGCTGCCGTTTCAGGCCTCTGAAGTTTGGGGTGACCTGATGCACAAGACAGATGACTTGGGGAAGGCCCCCAGACCCCCTCTCCTTGTGGTGTCTTAAGGCTCCGCGTGGGTCTCTGTCCCGCCAAGCACTCTGTGGACACTAGTGGGCTTGTCTTCTTCCCCCTGGACCACAGGGGGTCTGTGGG... | benign | 321,974 |
Clinical impact (benign or pathogenic) of the variant at chromosome 22, location 19178649, gene SLC25A1 (solute carrier family 25 member 1): what disease(s) if pathogenic? | pathogenic | CCAGAGGAGTGTTTCCAAAGACACTGGCTGCGCCTGCAATAGCTCCGAAGACCCCAGTGATCAGAGGGTTCATGGGCTTGTTGGGGTTGTCCCCTGGATATAGGAGGGGTGAGGTGGGTCAGAGGGTGCCGGGAGGGGCCTGGATCAGCACTTCAAAAGGTGGGTGCCCGCCACCCAGGGGTGGCCCCAAGGAGAGGAGAGGAGCTGGCCATGTGCAGAGATGGGGCCCTGTGATGCAGACACACCTCGGTACCAGTTGCGCAGGGAGGTCATGACGAAGAAGCGGATGGCCTGGTTCGAGCCCTGCTTCAGGACAGTGG... | CCAGAGGAGTGTTTCCAAAGACACTGGCTGCGCCTGCAATAGCTCCGAAGACCCCAGTGATCAGAGGGTTCATGGGCTTGTTGGGGTTGTCCCCTGGATATAGGAGGGGTGAGGTGGGTCAGAGGGTGCCGGGAGGGGCCTGGATCAGCACTTCAAAAGGTGGGTGCCCGCCACCCAGGGGTGGCCCCAAGGAGAGGAGAGGAGCTGGCCATGTGCAGAGATGGGGCCCTGTGATGCAGACACACCTCGGTACCAGTTGCGCAGGGAGGTCATGACGAAGAAGCGGATGGCCTGGTTCGAGCCCTGCTTCAGGACAGTGG... | pathogenic | 322,043 |
Evaluate the clinical significance of the mutation at chromosome 22, position 19724156 in gene GP1BB: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Bernard_Soulier_syndrome'] | CAAGTCCAGGGCTGTGAGGGCTCCGGAGGGCAGGGCCTCAGCAGTGGCGGGGATGGGCCAGGCATCGCCAGCCCACGCTGAGCCTCCCGGTGGCGCCGCCCCGCCCATCCTCCCCCCCGCCCCGCGCAGCAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAG... | CAAGTCCAGGGCTGTGAGGGCTCCGGAGGGCAGGGCCTCAGCAGTGGCGGGGATGGGCCAGGCATCGCCAGCCCACGCTGAGCCTCCCGGTGGCGCCGCCCCGCCCATCCTCCCCCCCGCCCCGCGCAGCAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAG... | pathogenic | 322,164 |
Mutation at chromosome 22, position 19724285, within GP1BB: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bernard_Soulier_syndrome', 'Macrothrombocytopenia', 'Thrombocytopenia', 'likely other unspecified diseases'] | CAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCG... | CAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCG... | pathogenic | 322,169 |
Variant at chromosome position 19761056, chromosome 22, gene TBX1 (T-box transcription factor 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GGAGGTGGAGGCGGGAGGGGCCAAGGGCAGGGGCAGGGCTGGGCTCCGGCAGCCACTCGCTGCTTCATGGGTGCCCTGCCACCTCGGGCTAGGGCTGGGTGCTGCTGGCATAGACACCTCTCCTCGGGGGGCTGTAGAAGCTGACGGTGGCTTCGCTGCACAGAGAAAGGCCGTGCCTTGGCAGGAGCAACGGGATGTTCAAGGGGCGTTGGTCATGGAGGTCCCTGGGAATGGAGGAAGGGGGCAGGGAGCTTGGAAAGCAAGAGGGCCCTGCACTTCCAGGGTGCTCCACCCGTCTGGGCCCCTCGGCTGCTACCAGC... | GGAGGTGGAGGCGGGAGGGGCCAAGGGCAGGGGCAGGGCTGGGCTCCGGCAGCCACTCGCTGCTTCATGGGTGCCCTGCCACCTCGGGCTAGGGCTGGGTGCTGCTGGCATAGACACCTCTCCTCGGGGGGCTGTAGAAGCTGACGGTGGCTTCGCTGCACAGAGAAAGGCCGTGCCTTGGCAGGAGCAACGGGATGTTCAAGGGGCGTTGGTCATGGAGGTCCCTGGGAATGGAGGAAGGGGGCAGGGAGCTTGGAAAGCAAGAGGGCCCTGCACTTCCAGGGTGCTCCACCCGTCTGGGCCCCTCGGCTGCTACCAGC... | benign | 322,188 |
Does the variant on chromosome 22 at location 19766504 affecting gene TBX1 (T-box transcription factor 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AGGAGGCCCTTTAGAGTCCCTGCGAGGCTAGAGGCTGAGGCGGAGCTTGGGCAGTGCTGGTGTGCCGATGAGGAGAGCGGCCTCTGGTCAGGGGTCGCACAGCCTAGTGGGCCTGGGCCCTGGGAGAGGGGTCGCCCTCCTTCTCTCACCCCACTCCTGATTTTATGCAGGAAGCTTTTTTAATGGAAAAGATGGGGCCCTGCAAGGGGGCTGGAGAAAGAGGCTTTATGGAGTCCAGGCCAGTGAGGTCGCTGGGCAGGCACCTAAGGAAAGAGAACCTAAACCCAGATCTTTTGCCACTTGGAGCTCATTCCTGGCAG... | AGGAGGCCCTTTAGAGTCCCTGCGAGGCTAGAGGCTGAGGCGGAGCTTGGGCAGTGCTGGTGTGCCGATGAGGAGAGCGGCCTCTGGTCAGGGGTCGCACAGCCTAGTGGGCCTGGGCCCTGGGAGAGGGGTCGCCCTCCTTCTCTCACCCCACTCCTGATTTTATGCAGGAAGCTTTTTTAATGGAAAAGATGGGGCCCTGCAAGGGGGCTGGAGAAAGAGGCTTTATGGAGTCCAGGCCAGTGAGGTCGCTGGGCAGGCACCTAAGGAAAGAGAACCTAAACCCAGATCTTTTGCCACTTGGAGCTCATTCCTGGCAG... | benign | 322,260 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 19766760, gene TBX1 (T-box transcription factor 1). What disease(s) is it linked to if pathogenic? | benign | CAGGCACCTAAGGAAAGAGAACCTAAACCCAGATCTTTTGCCACTTGGAGCTCATTCCTGGCAGTTGCCAATGGGTCACAGCCTCCTCTTGGCCCAGTGACCCAGCCTCATCTTGGAATTAAGGGTTTTGCCCAACTCATCCAGGAAACTCATTGCCAACTCAGACCTCAGCCCATTTCCTGGCTCCCACCCCAGATCCTCAGCCCAGCCCCACCGCTGGAGCTGATTCCCCACCTTGTCTTCCAGATTATTCTGAATTCCATGCACAGATACCAGCCCCGCTTCCACGTGGTCTATGTGGACCCACGCAAAGATAGCGA... | CAGGCACCTAAGGAAAGAGAACCTAAACCCAGATCTTTTGCCACTTGGAGCTCATTCCTGGCAGTTGCCAATGGGTCACAGCCTCCTCTTGGCCCAGTGACCCAGCCTCATCTTGGAATTAAGGGTTTTGCCCAACTCATCCAGGAAACTCATTGCCAACTCAGACCTCAGCCCATTTCCTGGCTCCCACCCCAGATCCTCAGCCCAGCCCCACCGCTGGAGCTGATTCCCCACCTTGTCTTCCAGATTATTCTGAATTCCATGCACAGATACCAGCCCCGCTTCCACGTGGTCTATGTGGACCCACGCAAAGATAGCGA... | benign | 322,286 |
The chromosome 22, position 19766762 genetic variant in gene TBX1 (T-box transcription factor 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GGCACCTAAGGAAAGAGAACCTAAACCCAGATCTTTTGCCACTTGGAGCTCATTCCTGGCAGTTGCCAATGGGTCACAGCCTCCTCTTGGCCCAGTGACCCAGCCTCATCTTGGAATTAAGGGTTTTGCCCAACTCATCCAGGAAACTCATTGCCAACTCAGACCTCAGCCCATTTCCTGGCTCCCACCCCAGATCCTCAGCCCAGCCCCACCGCTGGAGCTGATTCCCCACCTTGTCTTCCAGATTATTCTGAATTCCATGCACAGATACCAGCCCCGCTTCCACGTGGTCTATGTGGACCCACGCAAAGATAGCGAGA... | GGCACCTAAGGAAAGAGAACCTAAACCCAGATCTTTTGCCACTTGGAGCTCATTCCTGGCAGTTGCCAATGGGTCACAGCCTCCTCTTGGCCCAGTGACCCAGCCTCATCTTGGAATTAAGGGTTTTGCCCAACTCATCCAGGAAACTCATTGCCAACTCAGACCTCAGCCCATTTCCTGGCTCCCACCCCAGATCCTCAGCCCAGCCCCACCGCTGGAGCTGATTCCCCACCTTGTCTTCCAGATTATTCTGAATTCCATGCACAGATACCAGCCCCGCTTCCACGTGGTCTATGTGGACCCACGCAAAGATAGCGAGA... | benign | 322,288 |
Variant chromosome 22, position 19880732, gene TXNRD2 (thioredoxin reductase 2): benign or pathogenic? Disease(s)? | benign | CTGGGACCCCCGTAAACCACAGCAGCAGAGCAGGCATCAGGCAATCCAAGCAGCCAGGCCAGGCACAGCAAACCTGGGTGGACGTAGCTCACCCACAACAAATGGTGGAGGCAAGAATGGGTGAGCAGGAGGCCACCTGGGCTCCCTCAGGCACCCTGGTGTTTGCTTGGCCCTCACTGGAGCAAGGCCGCTGTGGCCACACCGGAGCCGGAGCTGTTGGACAAAGGCTTTCAGCACCCCTGAAGGGCTCGACAGCGTGTCCGGGGCTGCGGCCAAGTAAAAAATGAGTGGGGCCCTCACATGTGCTGTACAGCCATTAT... | CTGGGACCCCCGTAAACCACAGCAGCAGAGCAGGCATCAGGCAATCCAAGCAGCCAGGCCAGGCACAGCAAACCTGGGTGGACGTAGCTCACCCACAACAAATGGTGGAGGCAAGAATGGGTGAGCAGGAGGCCACCTGGGCTCCCTCAGGCACCCTGGTGTTTGCTTGGCCCTCACTGGAGCAAGGCCGCTGTGGCCACACCGGAGCCGGAGCTGTTGGACAAAGGCTTTCAGCACCCCTGAAGGGCTCGACAGCGTGTCCGGGGCTGCGGCCAAGTAAAAAATGAGTGGGGCCCTCACATGTGCTGTACAGCCATTAT... | benign | 322,363 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 19894969, gene TXNRD2 (thioredoxin reductase 2). What disease(s) is it linked to if pathogenic? | benign | TACTTTTACAACGTGGCTGAGAACATTGCTCTTGCTGACTGATCACCTCCGGGCCAAGAGCCCTGCGTGCGCTCAGGCATCTCAGGTCCTCCCCGGTCATCACCTCTGCGCTTGTGTCCACTGCACAAAAGTGAAGCCTCAGCCGCTCCAGGCTGGTTTCCTTTCTGATTTCCCATTCCGAGTGACTGCTTCAGAAGTGCATCACCCTATGACACAGCTTGTGCCTCTGGGAGCCCTCCCCCAGGAGACACTGACCCCTGGCCAGCCCCACGCAAGCCCGGTTAGCTGATGGAGGTGGAGGCAGGTGATCTGAGAGGGAC... | TACTTTTACAACGTGGCTGAGAACATTGCTCTTGCTGACTGATCACCTCCGGGCCAAGAGCCCTGCGTGCGCTCAGGCATCTCAGGTCCTCCCCGGTCATCACCTCTGCGCTTGTGTCCACTGCACAAAAGTGAAGCCTCAGCCGCTCCAGGCTGGTTTCCTTTCTGATTTCCCATTCCGAGTGACTGCTTCAGAAGTGCATCACCCTATGACACAGCTTGTGCCTCTGGGAGCCCTCCCCCAGGAGACACTGACCCCTGGCCAGCCCCACGCAAGCCCGGTTAGCTGATGGAGGTGGAGGCAGGTGATCTGAGAGGGAC... | benign | 322,377 |
Is the variant located on chromosome 22 at position 19915195, gene TXNRD2 (thioredoxin reductase 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | ACTCTGCCCCCACAACCCACAAGACTGGGCCAGGAGTTATTCACCTCTCTGTTAAAAACAGCGATAAAACTGGCAAGAACTGGGAGATTCAGAATTATGGAAATTAACCACAGGCTTGCAGCAACACAGGGAACATTTAAAGTCAGGAAAAACAGCTGAAGCTGAGTGAGAATGGGAACTCCAGGGTGTTTTAACTCACTCTGGTCCCACTCCCACCTCAGCGGCAGCCCTGAACAGTGATGTGTCAGAGAGAGCAGAACTCAGCTGGGGTCTTTCAAAGCCCCCCCACAAAGAAGAGTCAGAGTCAGCAACTATAGGGT... | ACTCTGCCCCCACAACCCACAAGACTGGGCCAGGAGTTATTCACCTCTCTGTTAAAAACAGCGATAAAACTGGCAAGAACTGGGAGATTCAGAATTATGGAAATTAACCACAGGCTTGCAGCAACACAGGGAACATTTAAAGTCAGGAAAAACAGCTGAAGCTGAGTGAGAATGGGAACTCCAGGGTGTTTTAACTCACTCTGGTCCCACTCCCACCTCAGCGGCAGCCCTGAACAGTGATGTGTCAGAGAGAGCAGAACTCAGCTGGGGTCTTTCAAAGCCCCCCCACAAAGAAGAGTCAGAGTCAGCAACTATAGGGT... | benign | 322,420 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 19915856, gene TXNRD2 (thioredoxin reductase 2). What disease(s) is it linked to if pathogenic? | benign | AGTGTGGAAGGCATCCCCTCCAAACGCACACAGAGCCCTCAGCAAAGACCGGGAGAGTTCTTAGTTTAGGGAAATCTCCATGCAGTTCTTAGCTGACCACTAAGCTAACCAAGTAAAGACTTCAGTGGCCACATACATCAAAGAATAAGAGTCTACAAAGTCAGTTCCGAAAAGTCACCAAATAAGCAGCTGTAACAACAGAATCCTGGGGCAGAGGGAGAATCTGGTTTCCAAAGTTATCGCATTAAATTATTTGAAATGTTCAGCTTTCAATAAAAAAATTACAAGATACGTGAAGAAACAAGAAACCATGACCCTTA... | AGTGTGGAAGGCATCCCCTCCAAACGCACACAGAGCCCTCAGCAAAGACCGGGAGAGTTCTTAGTTTAGGGAAATCTCCATGCAGTTCTTAGCTGACCACTAAGCTAACCAAGTAAAGACTTCAGTGGCCACATACATCAAAGAATAAGAGTCTACAAAGTCAGTTCCGAAAAGTCACCAAATAAGCAGCTGTAACAACAGAATCCTGGGGCAGAGGGAGAATCTGGTTTCCAAAGTTATCGCATTAAATTATTTGAAATGTTCAGCTTTCAATAAAAAAATTACAAGATACGTGAAGAAACAAGAAACCATGACCCTTA... | benign | 322,436 |
Clinical classification of chromosome 22, position 19919617, gene TXNRD2 (thioredoxin reductase 2): benign or pathogenic? Disease(s) if pathogenic? | benign | TTTCAGGCATCTGCTGTGCTGGCAGCTGAGCCCCAGGAGAAGGTTGTAGGCCAGGGGAGCATAGGCCTCTGTGCTGGAGATCCCCAGGGGCTGACAGGAACGGTGACCAAGTAGGGACATTTGCTCCAGCGGAAAGCACCAAGCTCCTGCACCCACACCCAAGGAGCTGGAGGTGTGCAGTAAGAAGGGGGTTCACGGGGTGGGGGCTTGCCACTGGGATGACCCTCACCACATATTAGCCCCAGGCCTAGCTATGTCCACGCTCTCTGGCCTGAGGCCTTCCAGCCCCAAGCGCCTCCTCCCTGTGCAGCCCTGGGCTC... | TTTCAGGCATCTGCTGTGCTGGCAGCTGAGCCCCAGGAGAAGGTTGTAGGCCAGGGGAGCATAGGCCTCTGTGCTGGAGATCCCCAGGGGCTGACAGGAACGGTGACCAAGTAGGGACATTTGCTCCAGCGGAAAGCACCAAGCTCCTGCACCCACACCCAAGGAGCTGGAGGTGTGCAGTAAGAAGGGGGTTCACGGGGTGGGGGCTTGCCACTGGGATGACCCTCACCACATATTAGCCCCAGGCCTAGCTATGTCCACGCTCTCTGGCCTGAGGCCTTCCAGCCCCAAGCGCCTCCTCCCTGTGCAGCCCTGGGCTC... | benign | 322,466 |
Chromosome 22, position 19941683, gene TXNRD2: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GGAGAAGGCACTGCATTTAATGTTACTATGGGTTATAAATACCCTCCTCTGTGCCTTGGACATGCACCTGGTTGTATCCATCTAGAAGCTCAAGTCTGGGCTGCTTGTCTTCCAGAGAGATTAGCTATAGGGAAATGGGGACATTTGGTCTCTGGCCTCTCCCTTTCTCCTTTAAGACAAATAAAAAGAGGAGTAATAGGAGATACCCCATACTTTCAATATAAACCTGTAGGAAAACCATATCCTAAAAATTTTGAGGGCCCATCTAAAACTTCAATTTGGGAATGATTGTGTTAACTCACATGCAGTAGTATTAAAAA... | GGAGAAGGCACTGCATTTAATGTTACTATGGGTTATAAATACCCTCCTCTGTGCCTTGGACATGCACCTGGTTGTATCCATCTAGAAGCTCAAGTCTGGGCTGCTTGTCTTCCAGAGAGATTAGCTATAGGGAAATGGGGACATTTGGTCTCTGGCCTCTCCCTTTCTCCTTTAAGACAAATAAAAAGAGGAGTAATAGGAGATACCCCATACTTTCAATATAAACCTGTAGGAAAACCATATCCTAAAAATTTTGAGGGCCCATCTAAAACTTCAATTTGGGAATGATTGTGTTAACTCACATGCAGTAGTATTAAAAA... | benign | 322,474 |
A genetic variant at chromosome 22, position 19968739, affecting gene ARVCF—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TCAACCTCCCAAAGTGCTGGGAGTACAGGTGTGTGCTTGGTCTGAGGCTCCAACTTTTTGTTGTTGTTTCTCGAGACAGTCTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCCCTGCAACCTCTGTGAGGCTCCAACTCTTGAAGGGAGGAGAGTCTAAGGAGGGTGGGCCAGATGAAAACCACCTCAGCATAGTGTCACCTGCTCCTCTGACACTGTCGCTTCTCCACGGCATTAGATTTTCAGTCCTGCTCAGACGCTGATGCATGTTTAGCCAGTTCTCCAGGTGGTCTGAGTAGCTGGTA... | TCAACCTCCCAAAGTGCTGGGAGTACAGGTGTGTGCTTGGTCTGAGGCTCCAACTTTTTGTTGTTGTTTCTCGAGACAGTCTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCCCTGCAACCTCTGTGAGGCTCCAACTCTTGAAGGGAGGAGAGTCTAAGGAGGGTGGGCCAGATGAAAACCACCTCAGCATAGTGTCACCTGCTCCTCTGACACTGTCGCTTCTCCACGGCATTAGATTTTCAGTCCTGCTCAGACGCTGATGCATGTTTAGCCAGTTCTCCAGGTGGTCTGAGTAGCTGGTA... | benign | 322,496 |
Does the variant impacting TANGO2 (transport and golgi organization 2 homolog) on chromosome 22, position 20036801, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome'] | CTTCTGTCTCCTTCGCCCCCGAGGCCACCAGAGTATGAGCCCCAGTGTGTTCAGTGGGCAAACGCTCTCAGGCAGGATTGGCCACTGTGTTCTGCTGTCCTCTGTGGGCCACGCTCTCCGAACTGTTGGCCAAATGCTGCATGAGCTCATCAGCTCCTGGCAATTTTTAAGATGTTTTCATATTTCATCCAGCATCTTGAGTTGTTTTTACCAAAAGGATTGCCCCTAGTAGCCTGCCCACCCTCGGATGATGGCCCCCTGTGGGCGCTTCCAGGGCACCCGGCAAGGGGACCCAACCCACTTCCAGCCCCACAGTCTGC... | CTTCTGTCTCCTTCGCCCCCGAGGCCACCAGAGTATGAGCCCCAGTGTGTTCAGTGGGCAAACGCTCTCAGGCAGGATTGGCCACTGTGTTCTGCTGTCCTCTGTGGGCCACGCTCTCCGAACTGTTGGCCAAATGCTGCATGAGCTCATCAGCTCCTGGCAATTTTTAAGATGTTTTCATATTTCATCCAGCATCTTGAGTTGTTTTTACCAAAAGGATTGCCCCTAGTAGCCTGCCCACCCTCGGATGATGGCCCCCTGTGGGCGCTTCCAGGGCACCCGGCAAGGGGACCCAACCCACTTCCAGCCCCACAGTCTGC... | pathogenic | 322,549 |
Chromosome 22, position 20036832, gene TANGO2 (transport and golgi organization 2 homolog): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | AGTATGAGCCCCAGTGTGTTCAGTGGGCAAACGCTCTCAGGCAGGATTGGCCACTGTGTTCTGCTGTCCTCTGTGGGCCACGCTCTCCGAACTGTTGGCCAAATGCTGCATGAGCTCATCAGCTCCTGGCAATTTTTAAGATGTTTTCATATTTCATCCAGCATCTTGAGTTGTTTTTACCAAAAGGATTGCCCCTAGTAGCCTGCCCACCCTCGGATGATGGCCCCCTGTGGGCGCTTCCAGGGCACCCGGCAAGGGGACCCAACCCACTTCCAGCCCCACAGTCTGCTTCCCACAGGGCCCCCTTGCAACAACACACC... | AGTATGAGCCCCAGTGTGTTCAGTGGGCAAACGCTCTCAGGCAGGATTGGCCACTGTGTTCTGCTGTCCTCTGTGGGCCACGCTCTCCGAACTGTTGGCCAAATGCTGCATGAGCTCATCAGCTCCTGGCAATTTTTAAGATGTTTTCATATTTCATCCAGCATCTTGAGTTGTTTTTACCAAAAGGATTGCCCCTAGTAGCCTGCCCACCCTCGGATGATGGCCCCCTGTGGGCGCTTCCAGGGCACCCGGCAAGGGGACCCAACCCACTTCCAGCCCCACAGTCTGCTTCCCACAGGGCCCCCTTGCAACAACACACC... | pathogenic | 322,550 |
Mutation at chromosome 22, position 20053448, within TANGO2 (transport and golgi organization 2 homolog): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome'] | ACATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGGAGAGGTTGCAGTGAGCCGAGAGCACACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAGTAATAATAACAATAATAAATAAAATAACATCCTAGCCAGTGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGTCGGGAGGATCGCTTGAGCCCAGGAGTTCGAGACAAGCCTGGGCAACACAGCAAAACTTTGTCTGTACAAAAAAATGCAAAAATCAGCCGAGTGTGATG... | ACATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGGAGAGGTTGCAGTGAGCCGAGAGCACACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAGTAATAATAACAATAATAAATAAAATAACATCCTAGCCAGTGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGTCGGGAGGATCGCTTGAGCCCAGGAGTTCGAGACAAGCCTGGGCAACACAGCAAAACTTTGTCTGTACAAAAAAATGCAAAAATCAGCCGAGTGTGATG... | pathogenic | 322,561 |
Chromosome 22, position 20425683, gene SCARF2 (scavenger receptor class F member 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GAGAGTGTGCCCAGGACGAGAGCCCCAAGTTGCCAGCGTGAGACCAATGAGTGCTGTGTGGCGGCTGCAGGGTGATCAGAAGATCCTGGCAGCAGGGGAAGACTTTGAGCTGGGCATCAAAAGATGAGATGCAGGAGAACAAGAAGAGGCCTGCCGGGCAGAGGCAGGAGGTGGGAGGAGAACAGACAGGCAGGAGCTGGGGGAACTTAGTGTGGGGACAGCAGGGGCCATGGAAGGTGAGGGTCTGCGGCTTAGGAGGGTCACTTAGGAGGCCTGCCCGGGAGGGTAGGCGGGTCAGGAGCAGCGAGGCCGTAGGGCAC... | GAGAGTGTGCCCAGGACGAGAGCCCCAAGTTGCCAGCGTGAGACCAATGAGTGCTGTGTGGCGGCTGCAGGGTGATCAGAAGATCCTGGCAGCAGGGGAAGACTTTGAGCTGGGCATCAAAAGATGAGATGCAGGAGAACAAGAAGAGGCCTGCCGGGCAGAGGCAGGAGGTGGGAGGAGAACAGACAGGCAGGAGCTGGGGGAACTTAGTGTGGGGACAGCAGGGGCCATGGAAGGTGAGGGTCTGCGGCTTAGGAGGGTCACTTAGGAGGCCTGCCCGGGAGGGTAGGCGGGTCAGGAGCAGCGAGGCCGTAGGGCAC... | benign | 322,600 |
Clinical classification of chromosome 22, position 20425735, gene SCARF2 (scavenger receptor class F member 2): benign or pathogenic? Disease(s) if pathogenic? | benign | GCTGTGTGGCGGCTGCAGGGTGATCAGAAGATCCTGGCAGCAGGGGAAGACTTTGAGCTGGGCATCAAAAGATGAGATGCAGGAGAACAAGAAGAGGCCTGCCGGGCAGAGGCAGGAGGTGGGAGGAGAACAGACAGGCAGGAGCTGGGGGAACTTAGTGTGGGGACAGCAGGGGCCATGGAAGGTGAGGGTCTGCGGCTTAGGAGGGTCACTTAGGAGGCCTGCCCGGGAGGGTAGGCGGGTCAGGAGCAGCGAGGCCGTAGGGCACAGATGGTCACAGATAGCCAGGCAGCCGGGTCTGGCTTGGGGGCAGGGGATCT... | GCTGTGTGGCGGCTGCAGGGTGATCAGAAGATCCTGGCAGCAGGGGAAGACTTTGAGCTGGGCATCAAAAGATGAGATGCAGGAGAACAAGAAGAGGCCTGCCGGGCAGAGGCAGGAGGTGGGAGGAGAACAGACAGGCAGGAGCTGGGGGAACTTAGTGTGGGGACAGCAGGGGCCATGGAAGGTGAGGGTCTGCGGCTTAGGAGGGTCACTTAGGAGGCCTGCCCGGGAGGGTAGGCGGGTCAGGAGCAGCGAGGCCGTAGGGCACAGATGGTCACAGATAGCCAGGCAGCCGGGTCTGGCTTGGGGGCAGGGGATCT... | benign | 322,601 |
For chromosome 22, position 20425741, gene SCARF2 (scavenger receptor class F member 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TGGCGGCTGCAGGGTGATCAGAAGATCCTGGCAGCAGGGGAAGACTTTGAGCTGGGCATCAAAAGATGAGATGCAGGAGAACAAGAAGAGGCCTGCCGGGCAGAGGCAGGAGGTGGGAGGAGAACAGACAGGCAGGAGCTGGGGGAACTTAGTGTGGGGACAGCAGGGGCCATGGAAGGTGAGGGTCTGCGGCTTAGGAGGGTCACTTAGGAGGCCTGCCCGGGAGGGTAGGCGGGTCAGGAGCAGCGAGGCCGTAGGGCACAGATGGTCACAGATAGCCAGGCAGCCGGGTCTGGCTTGGGGGCAGGGGATCTGCCCCG... | TGGCGGCTGCAGGGTGATCAGAAGATCCTGGCAGCAGGGGAAGACTTTGAGCTGGGCATCAAAAGATGAGATGCAGGAGAACAAGAAGAGGCCTGCCGGGCAGAGGCAGGAGGTGGGAGGAGAACAGACAGGCAGGAGCTGGGGGAACTTAGTGTGGGGACAGCAGGGGCCATGGAAGGTGAGGGTCTGCGGCTTAGGAGGGTCACTTAGGAGGCCTGCCCGGGAGGGTAGGCGGGTCAGGAGCAGCGAGGCCGTAGGGCACAGATGGTCACAGATAGCCAGGCAGCCGGGTCTGGCTTGGGGGCAGGGGATCTGCCCCG... | benign | 322,602 |
Evaluate this variant at chromosome 22, position 20709921, gene PI4KA (phosphatidylinositol 4-kinase alpha): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis', 'Spastic_paraplegia_84,_autosomal_recessive'] | GGCGTTACCAAGGCTGCGCCACCCACGTGCTGCCCCAGGAGGCGCTACCAGGTTCTTTGGGCCACAGGCCTCTCCTCCACTGCATGTGGCGGCAGGGCAGGGAGGTCGCAGGGCTCCATGATTGTGGGACAGCTTTGAGGGCACATGGGGCAGAGGCCCTCGAAGGTCCCCTCCTCAGTAGGGGATGTCATTCTGATAGTACTGGATCATGTCGTAGGTCCGGCTCCTGAAAGGCCAAGGAAGAGTGAAGGGAGATTCGAGGAGCCAGCAGGGTCTGGGGTCCCTCCCCACAGGGAGCCCTACCTGTCCAATCAGCCCCT... | GGCGTTACCAAGGCTGCGCCACCCACGTGCTGCCCCAGGAGGCGCTACCAGGTTCTTTGGGCCACAGGCCTCTCCTCCACTGCATGTGGCGGCAGGGCAGGGAGGTCGCAGGGCTCCATGATTGTGGGACAGCTTTGAGGGCACATGGGGCAGAGGCCCTCGAAGGTCCCCTCCTCAGTAGGGGATGTCATTCTGATAGTACTGGATCATGTCGTAGGTCCGGCTCCTGAAAGGCCAAGGAAGAGTGAAGGGAGATTCGAGGAGCCAGCAGGGTCTGGGGTCCCTCCCCACAGGGAGCCCTACCTGTCCAATCAGCCCCT... | pathogenic | 322,628 |
Does the genetic variant at chromosome 22, position 20726433, impacting gene PI4KA (phosphatidylinositol 4-kinase alpha), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CACCTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAAATAAGCCGGGCGTGGTGGCATGCACCTTCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAATCTGGGAGGCAGAGGCTGCAAGGAGCCGAGAATGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCTGTCTAAAACAAAACAAAACGAACAAAAAAAAATTCCCTAAAAATGGAAAGCAAGAAAGAAACCAGTGAAACTAGCTGAGTCCTGAGTTGGTACAACCACACACA... | CACCTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAAATAAGCCGGGCGTGGTGGCATGCACCTTCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAATCTGGGAGGCAGAGGCTGCAAGGAGCCGAGAATGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCTGTCTAAAACAAAACAAAACGAACAAAAAAAAATTCCCTAAAAATGGAAAGCAAGAAAGAAACCAGTGAAACTAGCTGAGTCCTGAGTTGGTACAACCACACACA... | benign | 322,657 |
Variant in gene PI4KA (phosphatidylinositol 4-kinase alpha), located at chromosome 22 position 20813317: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | AGGCCAAACTCCCTCAGATTTGTTGACCTGAGATTTCTGTTTCCAGGATGTGCAGACCTCAGGCCTTGCTGCCATTTCACCCACTCATGGTTAACAGGCACAGTTGTGTGACATCCTCTTGCAATCCCCTCCCAGACATCAAGGACACCCTCACAGCCAGTCCTTGGAGCTCATGGCACCTCCTTCCTCTCCGGGCCAGGTGCACTGGCTCTTCTACAACTGCTTAGGTACTCAAACTAGAGCTCATATTTTAAATTTTCAATAGAAGCAATTATTTTCACCAGTTATCTGTACAGTATTTAGTGTAGGAATGAATTGTT... | AGGCCAAACTCCCTCAGATTTGTTGACCTGAGATTTCTGTTTCCAGGATGTGCAGACCTCAGGCCTTGCTGCCATTTCACCCACTCATGGTTAACAGGCACAGTTGTGTGACATCCTCTTGCAATCCCCTCCCAGACATCAAGGACACCCTCACAGCCAGTCCTTGGAGCTCATGGCACCTCCTTCCTCTCCGGGCCAGGTGCACTGGCTCTTCTACAACTGCTTAGGTACTCAAACTAGAGCTCATATTTTAAATTTTCAATAGAAGCAATTATTTTCACCAGTTATCTGTACAGTATTTAGTGTAGGAATGAATTGTT... | benign | 322,697 |
Gene PI4KA variant at chromosome 22, position 20858672—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCGACCTCAAGTGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCATCATAAAATATAATCTTGACAACTGAAGCAGTTATTACTACAAAGCTAAGAATGTTGCAATTACAGAATGTTCTCGTGACTAGTGAACATGGCTGAAGAAGCAAATTGAGCTCAAGGTGCCCTTTTCTGAGTTACTGAGTGGAAAGGGTGCTACCACTGCTGGAGCTGCAGGACCAGCTTCTTAAAGATCATCCAATTCACTGCATTCTCTTC... | GGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCGACCTCAAGTGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCATCATAAAATATAATCTTGACAACTGAAGCAGTTATTACTACAAAGCTAAGAATGTTGCAATTACAGAATGTTCTCGTGACTAGTGAACATGGCTGAAGAAGCAAATTGAGCTCAAGGTGCCCTTTTCTGAGTTACTGAGTGGAAAGGGTGCTACCACTGCTGGAGCTGCAGGACCAGCTTCTTAAAGATCATCCAATTCACTGCATTCTCTTC... | benign | 322,706 |
Clinical significance of chromosome 22, position 20858678, gene PI4KA: benign or pathogenic? Name the disease(s) if pathogenic. | benign | CACCATGTTGGCCAGGCTGGTCTCAAACTCCGACCTCAAGTGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCATCATAAAATATAATCTTGACAACTGAAGCAGTTATTACTACAAAGCTAAGAATGTTGCAATTACAGAATGTTCTCGTGACTAGTGAACATGGCTGAAGAAGCAAATTGAGCTCAAGGTGCCCTTTTCTGAGTTACTGAGTGGAAAGGGTGCTACCACTGCTGGAGCTGCAGGACCAGCTTCTTAAAGATCATCCAATTCACTGCATTCTCTTCTCTCTC... | CACCATGTTGGCCAGGCTGGTCTCAAACTCCGACCTCAAGTGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCATCATAAAATATAATCTTGACAACTGAAGCAGTTATTACTACAAAGCTAAGAATGTTGCAATTACAGAATGTTCTCGTGACTAGTGAACATGGCTGAAGAAGCAAATTGAGCTCAAGGTGCCCTTTTCTGAGTTACTGAGTGGAAAGGGTGCTACCACTGCTGGAGCTGCAGGACCAGCTTCTTAAAGATCATCCAATTCACTGCATTCTCTTCTCTCTC... | benign | 322,707 |
Regarding the variant found on chromosome 22 at position 20858678 in gene PI4KA: is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CACCATGTTGGCCAGGCTGGTCTCAAACTCCGACCTCAAGTGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCATCATAAAATATAATCTTGACAACTGAAGCAGTTATTACTACAAAGCTAAGAATGTTGCAATTACAGAATGTTCTCGTGACTAGTGAACATGGCTGAAGAAGCAAATTGAGCTCAAGGTGCCCTTTTCTGAGTTACTGAGTGGAAAGGGTGCTACCACTGCTGGAGCTGCAGGACCAGCTTCTTAAAGATCATCCAATTCACTGCATTCTCTTCTCTCTC... | CACCATGTTGGCCAGGCTGGTCTCAAACTCCGACCTCAAGTGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCATCATAAAATATAATCTTGACAACTGAAGCAGTTATTACTACAAAGCTAAGAATGTTGCAATTACAGAATGTTCTCGTGACTAGTGAACATGGCTGAAGAAGCAAATTGAGCTCAAGGTGCCCTTTTCTGAGTTACTGAGTGGAAAGGGTGCTACCACTGCTGGAGCTGCAGGACCAGCTTCTTAAAGATCATCCAATTCACTGCATTCTCTTCTCTCTC... | benign | 322,708 |
Mutation at chromosome 22, position 20859329, within SNAP29 (synaptosome associated protein 29): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['CEDNIK_syndrome'] | ATTGCATTGTACTCCCTCTTTAGCTAGAAGTCAGGTTAGCACCAATCTGCCGGGACCTTCTCACCCCGAAGGTGCATGATAAAATCAAATATGAGAACCGACAAGGCCAAGGACCAGGTCACTCTGCCAAAAGTGCCTAAAACAGCCTTTCAGCTTCATCCATCAGCAGACAGCCACAAAACCACTCCCAACTGCAGCAGGCTGGTCTCCGGTCACCACTGTCTTATCTTGTCGGAAAACATCCTCTCTCCATGTGCCAAAAAGTTGAGTGGGAAAATAATTCCATCCTTTCAGAGCTAAACACTGTGCTGAGTCTCATC... | ATTGCATTGTACTCCCTCTTTAGCTAGAAGTCAGGTTAGCACCAATCTGCCGGGACCTTCTCACCCCGAAGGTGCATGATAAAATCAAATATGAGAACCGACAAGGCCAAGGACCAGGTCACTCTGCCAAAAGTGCCTAAAACAGCCTTTCAGCTTCATCCATCAGCAGACAGCCACAAAACCACTCCCAACTGCAGCAGGCTGGTCTCCGGTCACCACTGTCTTATCTTGTCGGAAAACATCCTCTCTCCATGTGCCAAAAAGTTGAGTGGGAAAATAATTCCATCCTTTCAGAGCTAAACACTGTGCTGAGTCTCATC... | pathogenic | 322,721 |
Benign or pathogenic: chromosome 22, position 20870447, gene SNAP29 (synaptosome associated protein 29) variant? Disease(s) if pathogenic? | pathogenic; ['CEDNIK_syndrome', 'Hypomyelinating_leukodystrophy_2', 'Inborn_genetic_diseases'] | AATAGTAAATTCAACCAACCAGTGTTTTAGCTTTTTGCCTATACATTATGTTTTTAAATTTCACCCATTAAACAAGGACTCAGGTTACACATTGATTCCTTAAGGACTTTAAGGAAGCCACAACCATTTATTTATAGTTGCATTTTGCTCTTCAGGTTTCCAGGATGTTTAAAATTTTTTTTGACTTTGTTTTTAGGCATCAAGAGAGAATATATCTAAAAAACATTTGCATAGTTAGTGTAATTGCTAAGCCACAGGGTGATGGGTGGATAGATTCAGAGGAAGGCAGCTGAGGGCAGAGGCTGCCTGACAGAGCAGGA... | AATAGTAAATTCAACCAACCAGTGTTTTAGCTTTTTGCCTATACATTATGTTTTTAAATTTCACCCATTAAACAAGGACTCAGGTTACACATTGATTCCTTAAGGACTTTAAGGAAGCCACAACCATTTATTTATAGTTGCATTTTGCTCTTCAGGTTTCCAGGATGTTTAAAATTTTTTTTGACTTTGTTTTTAGGCATCAAGAGAGAATATATCTAAAAAACATTTGCATAGTTAGTGTAATTGCTAAGCCACAGGGTGATGGGTGGATAGATTCAGAGGAAGGCAGCTGAGGGCAGAGGCTGCCTGACAGAGCAGGA... | pathogenic | 322,726 |
Considering the genetic mutation at chromosome 22, position 20881100, impacting SNAP29 (synaptosome associated protein 29): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['CEDNIK_syndrome'] | AATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATTCCGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATGGTGTAAACCTGGTCAGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAGTAATAGGCTGGACACAGTGGCTCATGCCTGCATGGCTGTAATCCTGG... | AATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATTCCGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATGGTGTAAACCTGGTCAGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAGTAATAGGCTGGACACAGTGGCTCATGCCTGCATGGCTGTAATCCTGG... | pathogenic | 322,728 |
Considering the variant on chromosome 22, location 20982375, involving gene LZTR1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GGAAGGGATAGAGATGTGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCA... | GGAAGGGATAGAGATGTGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCA... | pathogenic | 322,757 |
Gene LZTR1 variant at chromosome position 20982389 on chromosome 22: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | TGTGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGA... | TGTGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGA... | pathogenic | 322,758 |
For chromosome 22, position 20982390, gene LZTR1: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GTGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAA... | GTGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAA... | pathogenic | 322,759 |
Clinical classification of chromosome 22, position 20982391, gene LZTR1: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis', 'Noonan_syndrome_2'] | TGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAA... | TGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAA... | pathogenic | 322,760 |
Is the genetic variant on chromosome 22, position 20982391, gene LZTR1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis', 'Noonan_syndrome_10', 'Noonan_syndrome_2'] | TGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAA... | TGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAA... | pathogenic | 322,761 |
Clinical impact (benign or pathogenic) of the variant at chromosome 22, location 20982414, gene LZTR1: what disease(s) if pathogenic? | pathogenic; ['LZTR1-related_schwannomatosis'] | CTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACA... | CTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACA... | pathogenic | 322,770 |
Mutation at chromosome 22, position 20982520, within LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Noonan_syndrome_2'] | TACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACC... | TACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACC... | pathogenic | 322,784 |
Is chromosome 22, position 20982570, gene LZTR1 (leucine zipper like post translational regulator 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis'] | GTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACCGTTCTGAGCCTTTCCCATGTCAGCCCAGACCCTCCACCCAATGGTCTTAT... | GTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACCGTTCTGAGCCTTTCCCATGTCAGCCCAGACCCTCCACCCAATGGTCTTAT... | pathogenic | 322,792 |
Gene LZTR1 (leucine zipper like post translational regulator 1) variant at chromosome 22, position 20983032—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | TCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAA... | TCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAA... | pathogenic | 322,802 |
Determine whether the variant at chromosome 22, position 20983035, in gene LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | TGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAA... | TGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAA... | pathogenic | 322,803 |
A genetic variant on chromosome 22, position 20983063, affects the gene LZTR1 (leucine zipper like post translational regulator 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis'] | CGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAA... | CGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAA... | pathogenic | 322,805 |
A genetic alteration at chromosome 22, position 20983087, in gene LZTR1 (leucine zipper like post translational regulator 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | TGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGA... | TGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGA... | pathogenic | 322,806 |
Considering the genetic mutation at chromosome 22, position 20983089, impacting LZTR1 (leucine zipper like post translational regulator 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATC... | CAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATC... | benign | 322,807 |
Evaluate if the mutation on chromosome 22 at position 20985861 in LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | CTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGC... | CTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGC... | pathogenic | 322,815 |
Evaluate if the mutation on chromosome 22 at position 20987482 in LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GGCAAGCACTTGCATTGCAGGGTACAGCTGCAGAGGAAGGGGATTGGGACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACT... | GGCAAGCACTTGCATTGCAGGGTACAGCTGCAGAGGAAGGGGATTGGGACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACT... | benign | 322,832 |
The mutation in gene LZTR1 (leucine zipper like post translational regulator 1) at chromosome 22, position 20987488—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CACTTGCATTGCAGGGTACAGCTGCAGAGGAAGGGGATTGGGACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCC... | CACTTGCATTGCAGGGTACAGCTGCAGAGGAAGGGGATTGGGACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCC... | benign | 322,833 |
Does the chromosome 22 mutation at position 20987501 within gene LZTR1 (leucine zipper like post translational regulator 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GGGTACAGCTGCAGAGGAAGGGGATTGGGACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAG... | GGGTACAGCTGCAGAGGAAGGGGATTGGGACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAG... | pathogenic | 322,834 |
Does the variant on chromosome 22 at location 20987529 affecting gene LZTR1 (leucine zipper like post translational regulator 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis'] | GACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTA... | GACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTA... | pathogenic | 322,840 |
Is the chromosome 22, position 20987529 variant in LZTR1 (leucine zipper like post translational regulator 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis', 'likely other unspecified diseases'] | GACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTA... | GACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTA... | pathogenic | 322,841 |
Clinical impact (benign or pathogenic) of the variant at chromosome 22, location 20987531, gene LZTR1 (leucine zipper like post translational regulator 1): what disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | CGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGA... | CGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGA... | pathogenic | 322,842 |
The chromosome 22, position 20987538 genetic variant in gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | ATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCT... | ATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCT... | pathogenic | 322,845 |
Determine whether the variant at chromosome 22, position 20987554, in gene LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Schwannomatosis'] | CTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTT... | CTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTT... | pathogenic | 322,852 |
Variant in LZTR1 (leucine zipper like post translational regulator 1), chromosome 22, position 20987564—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCT... | GTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCT... | pathogenic | 322,855 |
Considering the variant on chromosome 22, location 20988007, involving gene LZTR1 (leucine zipper like post translational regulator 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_disorder', 'LZTR1-related_schwannomatosis'] | GGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGT... | GGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGT... | pathogenic | 322,862 |
Considering the variant on chromosome 22, location 20988008, involving gene LZTR1 (leucine zipper like post translational regulator 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTC... | GTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTC... | pathogenic | 322,865 |
Clinical classification of chromosome 22, position 20988046, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | CTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGG... | CTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGG... | pathogenic | 322,873 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 20988065, gene LZTR1 (leucine zipper like post translational regulator 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | AGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGC... | AGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGC... | pathogenic | 322,878 |
Evaluate the clinical significance of the mutation at chromosome 22, position 20988074 in gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | CCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTG... | CCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTG... | pathogenic | 322,881 |
Is the genetic variant on chromosome 22, position 20988090, gene LZTR1 (leucine zipper like post translational regulator 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis', 'Schwannomatosis'] | GCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAA... | GCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAA... | pathogenic | 322,883 |
The chromosome 22, position 20988794 genetic variant in gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['LZTR1-related_schwannomatosis'] | GATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTT... | GATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTT... | pathogenic | 322,895 |
Regarding the variant found on chromosome 22 at position 20988795 in gene LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['LZTR1-related_schwannomatosis'] | ATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTT... | ATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTT... | pathogenic | 322,896 |
Regarding the variant found on chromosome 22 at position 20988807 in gene LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis'] | ATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGAC... | ATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGAC... | pathogenic | 322,900 |
The mutation in gene LZTR1 (leucine zipper like post translational regulator 1) at chromosome 22, position 20988817—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | AATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACC... | AATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACC... | pathogenic | 322,903 |
Is the chromosome 22, position 20988820 variant in LZTR1 (leucine zipper like post translational regulator 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTC... | GAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTC... | pathogenic | 322,904 |
A mutation at chromosome position 20988846 on chromosome 22 in gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | ATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGG... | ATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGG... | pathogenic | 322,912 |
A mutation at chromosome position 20989634 on chromosome 22 in gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis'] | AAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCT... | AAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCT... | pathogenic | 322,925 |
Gene mutation in LZTR1 (leucine zipper like post translational regulator 1) at chromosome 22, position 20989640—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | CCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTA... | CCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTA... | pathogenic | 322,926 |
Is the chromosome 22, position 20989657 variant in LZTR1 (leucine zipper like post translational regulator 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGC... | GCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGC... | pathogenic | 322,928 |
Chromosome 22, position 20989676, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTC... | CACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTC... | benign | 322,934 |
Evaluate this variant at chromosome 22, position 20990397, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['LZTR1-related_schwannomatosis'] | AGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCC... | AGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCC... | pathogenic | 322,945 |
Does the chromosome 22 mutation at position 20990404 within gene LZTR1 (leucine zipper like post translational regulator 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis'] | GTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCG... | GTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCG... | pathogenic | 322,947 |
Is chromosome 22, position 20990405, gene LZTR1 (leucine zipper like post translational regulator 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis'] | TACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGG... | TACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGG... | pathogenic | 322,948 |
Regarding the variant found on chromosome 22 at position 20990405 in gene LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | TACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGG... | TACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGG... | pathogenic | 322,949 |
Gene LZTR1 (leucine zipper like post translational regulator 1) variant at chromosome 22, position 20990426—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCT... | GAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCT... | pathogenic | 322,956 |
Clinical significance of chromosome 22, position 20990426, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCT... | GAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCT... | pathogenic | 322,957 |
Does the chromosome 22 mutation at position 20990466 within gene LZTR1 (leucine zipper like post translational regulator 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis'] | CATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCT... | CATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCT... | pathogenic | 322,966 |
Variant in LZTR1 (leucine zipper like post translational regulator 1), chromosome 22, position 20990481—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGG... | GCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGG... | pathogenic | 322,973 |
Clinical significance of chromosome 22, position 20990483, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | ACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCG... | ACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCG... | pathogenic | 322,974 |
Clinical classification of chromosome 22, position 20990505, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autism_spectrum_disorder', 'Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_disorder', 'LZTR1-related_schwannomatosis'] | AAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCC... | AAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCC... | pathogenic | 322,979 |
Evaluate if the mutation on chromosome 22 at position 20990520 in LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | AAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTT... | AAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTT... | pathogenic | 322,982 |
Is the genetic mutation found on chromosome 22 at position 20991673, within the gene LZTR1 (leucine zipper like post translational regulator 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['LZTR1-related_schwannomatosis'] | GTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTT... | GTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTT... | pathogenic | 323,004 |
Considering the variant on chromosome 22, location 20991724, involving gene LZTR1 (leucine zipper like post translational regulator 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_disorder', 'LZTR1-related_schwannomatosis'] | GGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTT... | GGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTT... | pathogenic | 323,014 |
For chromosome 22, position 20991730, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCA... | GGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCA... | pathogenic | 323,018 |
The mutation in gene LZTR1 (leucine zipper like post translational regulator 1) at chromosome 22, position 20991797—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | TGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGG... | TGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGG... | pathogenic | 323,032 |
Variant in gene LZTR1 (leucine zipper like post translational regulator 1), located at chromosome 22 position 20991813: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis'] | CATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTA... | CATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTA... | pathogenic | 323,036 |
Is the genetic variant on chromosome 22, position 20991821, gene LZTR1 (leucine zipper like post translational regulator 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATG... | GACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATG... | pathogenic | 323,039 |
Clinical classification of chromosome 22, position 20992222, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['LZTR1-related_schwannomatosis'] | TAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAAC... | TAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAAC... | pathogenic | 323,049 |
Is the genetic variant on chromosome 22, position 20992233, gene LZTR1 (leucine zipper like post translational regulator 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | ATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCA... | ATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCA... | pathogenic | 323,050 |
The mutation in gene LZTR1 (leucine zipper like post translational regulator 1) at chromosome 22, position 20992248—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Noonan_syndrome_2'] | GTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGA... | GTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGA... | pathogenic | 323,053 |
Gene LZTR1 (leucine zipper like post translational regulator 1) variant at chromosome 22, position 20992256—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | CTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGT... | CTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGT... | pathogenic | 323,058 |
The mutation impacting LZTR1 (leucine zipper like post translational regulator 1) on chromosome 22 at position 20992265: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCT... | GTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCT... | pathogenic | 323,061 |
Is the genetic mutation found on chromosome 22 at position 20992303, within the gene LZTR1 (leucine zipper like post translational regulator 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGA... | CAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGA... | benign | 323,068 |
Assess the variant on chromosome 22, position 20992806, impacting LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | CCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCT... | CCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCT... | pathogenic | 323,086 |
Gene LZTR1 (leucine zipper like post translational regulator 1) variant at chromosome 22, position 20992853—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis'] | TGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCT... | TGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCT... | pathogenic | 323,096 |
Variant on chromosome 22, at position 20992889, affecting LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | AATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTG... | AATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTG... | pathogenic | 323,104 |
Evaluate the clinical significance of the mutation at chromosome 22, position 20992894 in gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | TGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGG... | TGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGG... | pathogenic | 323,105 |
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