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 |
|---|---|---|---|---|---|
Clinically, how would you classify the variant at chromosome 10, position 18539740, gene CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | ACTTGAACCTGGGAGGCCAAGGTTGCACTGAACCAAGATCAGGCCACTGCACTCCAGCCTGGGTAACAGAGTAAGACTCTGTCTCAAAAAAAGAAAAAGAAAAAAGATATCACAATCTTTATGTCAAGAACAGGCTTCTTCCTATTCTATTCTATTCTGTTCAAATATATATACATCTCTTTTCTACCATAGTATCTATGCCTTTTTCATTGCTGATTGATAGACAACTTTTCTGGGTTGCCATGTCCTTAACAACTGTTACCTTTCTGGCCATTATTTATTAGTTAAGCATTCAGTGCCCTCAACAATGATTTGAGGTA... | ACTTGAACCTGGGAGGCCAAGGTTGCACTGAACCAAGATCAGGCCACTGCACTCCAGCCTGGGTAACAGAGTAAGACTCTGTCTCAAAAAAAGAAAAAGAAAAAAGATATCACAATCTTTATGTCAAGAACAGGCTTCTTCCTATTCTATTCTATTCTGTTCAAATATATATACATCTCTTTTCTACCATAGTATCTATGCCTTTTTCATTGCTGATTGATAGACAACTTTTCTGGGTTGCCATGTCCTTAACAACTGTTACCTTTCTGGCCATTATTTATTAGTTAAGCATTCAGTGCCCTCAACAATGATTTGAGGTA... | benign | 158,200 |
Considering the genetic mutation at chromosome 10, position 20809899, impacting NEBL (nebulette): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TACCCTAAAGAAATTCATTGAAGTTCTAGGCTTAATCCATCAGCCTGGATACAGAAAACAGAAGATACAGGAAAAGAGTGGGTATATAAAATAGTGACAAGATTATTAACAATCAATAGTATTTCTCATTTAAAAAAAAAAAAAAACCCTCTCATATCCCAAGTATTATGCCCAATTTCTTTTGGCAAGGTCTAACTCTGTCTGCAAGTTTATATTAATATTTAAAATATACACATTCATTATAACCTCTGAGGTACCCCAATATTACTGTAAGATTGATTTTTTTCCTTAATGGAAATCATATAAAAACTATGCAGAAC... | TACCCTAAAGAAATTCATTGAAGTTCTAGGCTTAATCCATCAGCCTGGATACAGAAAACAGAAGATACAGGAAAAGAGTGGGTATATAAAATAGTGACAAGATTATTAACAATCAATAGTATTTCTCATTTAAAAAAAAAAAAAAACCCTCTCATATCCCAAGTATTATGCCCAATTTCTTTTGGCAAGGTCTAACTCTGTCTGCAAGTTTATATTAATATTTAAAATATACACATTCATTATAACCTCTGAGGTACCCCAATATTACTGTAAGATTGATTTTTTTCCTTAATGGAAATCATATAAAAACTATGCAGAAC... | benign | 158,248 |
Regarding the variant found on chromosome 10 at position 20828519 in gene NEBL (nebulette): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CTTCACTCGTTCGATCTCTGGGCTATCTTTCACTGCAGTGCCAGCTCCCACTTCTTTCTTATAAAATACCTTTATTATAAGAAAAGGAAAAGAATAACTAAGCTTGTCAGAATTCAAGTCCTAGATCCGCTTCTTAGAAAGACAATTTCTCAGGTTTTATAATAATATGAATACTGCATCTATTTATGAGTGCCGGAATTATAGGAACAAATTAAATAATCCATTCAGATAATCCATGAAAACTTTGGTTTTATATCCCATAATCTCACAAATAACCCTCTCCTGCTCTAGGTCTAGACCACTACCATGGCTGACTGCAG... | CTTCACTCGTTCGATCTCTGGGCTATCTTTCACTGCAGTGCCAGCTCCCACTTCTTTCTTATAAAATACCTTTATTATAAGAAAAGGAAAAGAATAACTAAGCTTGTCAGAATTCAAGTCCTAGATCCGCTTCTTAGAAAGACAATTTCTCAGGTTTTATAATAATATGAATACTGCATCTATTTATGAGTGCCGGAATTATAGGAACAAATTAAATAATCCATTCAGATAATCCATGAAAACTTTGGTTTTATATCCCATAATCTCACAAATAACCCTCTCCTGCTCTAGGTCTAGACCACTACCATGGCTGACTGCAG... | benign | 158,305 |
A mutation at chromosome position 20852540 on chromosome 10 in gene NEBL (nebulette): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TTATATTTCACCTTCATTGGAAAAAGAAAAGCATATACAAATCGAAAGTCCTTATACAAACAGAGCAAACTAAGAAAAAATATATGTTCTAAACTAGTCATCTTGTTGTCTAAAATCATATTATTCTGGCCATTTAGGTTGAGCACTGGGTTCCCTTTGGTTAATGACATACAAGGAAAGTAAACAGGTAATATAAAATATCTTAAGGGATAAAAATAATTTAGAACAACTAACTAATGTAGTTCTAGGAGTTGTATAAAGCATCTTGTCAAATGGCTGGAATATATAGATATGTATCGTATATATGGGGTTATACATGT... | TTATATTTCACCTTCATTGGAAAAAGAAAAGCATATACAAATCGAAAGTCCTTATACAAACAGAGCAAACTAAGAAAAAATATATGTTCTAAACTAGTCATCTTGTTGTCTAAAATCATATTATTCTGGCCATTTAGGTTGAGCACTGGGTTCCCTTTGGTTAATGACATACAAGGAAAGTAAACAGGTAATATAAAATATCTTAAGGGATAAAAATAATTTAGAACAACTAACTAATGTAGTTCTAGGAGTTGTATAAAGCATCTTGTCAAATGGCTGGAATATATAGATATGTATCGTATATATGGGGTTATACATGT... | benign | 158,337 |
A genetic variant on chromosome 10, position 20888214, affects the gene NEBL (nebulette). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GTACCCCAGAACTTAAAAAAAATTTTTTTTAATAAGATTATCTAGGTATCTCTACTTAAAAAGATTCTGGGGAAAGGTAGGGCGCAATGGCTCACACCTGTAATCCCTGCACTTTGGGAGTCTGAGGTGGGCAGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAGACCCCGTCTCTACTAAAAAAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGCGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCATGAGAATAACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCAA... | GTACCCCAGAACTTAAAAAAAATTTTTTTTAATAAGATTATCTAGGTATCTCTACTTAAAAAGATTCTGGGGAAAGGTAGGGCGCAATGGCTCACACCTGTAATCCCTGCACTTTGGGAGTCTGAGGTGGGCAGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAGACCCCGTCTCTACTAAAAAAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGCGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCATGAGAATAACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCAA... | benign | 158,371 |
Classify the chromosome 10 variant at position 20888214 affecting gene NEBL (nebulette) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GTACCCCAGAACTTAAAAAAAATTTTTTTTAATAAGATTATCTAGGTATCTCTACTTAAAAAGATTCTGGGGAAAGGTAGGGCGCAATGGCTCACACCTGTAATCCCTGCACTTTGGGAGTCTGAGGTGGGCAGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAGACCCCGTCTCTACTAAAAAAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGCGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCATGAGAATAACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCAA... | GTACCCCAGAACTTAAAAAAAATTTTTTTTAATAAGATTATCTAGGTATCTCTACTTAAAAAGATTCTGGGGAAAGGTAGGGCGCAATGGCTCACACCTGTAATCCCTGCACTTTGGGAGTCTGAGGTGGGCAGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAGACCCCGTCTCTACTAAAAAAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGCGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCATGAGAATAACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCAA... | benign | 158,372 |
A genetic variant at chromosome 10, position 23194062, affecting gene PTF1A (pancreas associated transcription factor 1a)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CGGGCACCGCGGGACGCAGGTGCCCCTGGAGCCGCACGCGGGGCAGGTACAGAATCCAGTATGCAGAGGCAGAGGAGAGGGAAGAGAGCGGTGCGAGGAGCCCCGGGCCGCGCGACCCCGCCTTTTCCTCGCCCCAGGAGCTCCCAAAGGGAGCAAAACGCCCCCCACCCCCGCCCACCGCCGCGCCTCCGGGCCCCCTCGCCGCCGGCACACCGCGCTCTGATTGGCTGGCGCGATGGGTCCCTGGCACGCGCCTATGGATGTTGTTATAAGAATCCTCGCGTGCCGGCCCTCAGCTCCAGGAAGTCCGCCACAGCCCT... | CGGGCACCGCGGGACGCAGGTGCCCCTGGAGCCGCACGCGGGGCAGGTACAGAATCCAGTATGCAGAGGCAGAGGAGAGGGAAGAGAGCGGTGCGAGGAGCCCCGGGCCGCGCGACCCCGCCTTTTCCTCGCCCCAGGAGCTCCCAAAGGGAGCAAAACGCCCCCCACCCCCGCCCACCGCCGCGCCTCCGGGCCCCCTCGCCGCCGGCACACCGCGCTCTGATTGGCTGGCGCGATGGGTCCCTGGCACGCGCCTATGGATGTTGTTATAAGAATCCTCGCGTGCCGGCCCTCAGCTCCAGGAAGTCCGCCACAGCCCT... | benign | 158,405 |
Considering the genetic mutation at chromosome 10, position 25952186, impacting MYO3A (myosin IIIA): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | AATTGACATTTGAACTGAGATCTACAGGACAAGAAGGAACCAAAGGAAAAGGCTATTTGAGGACAAACAGCAGTTACCCCGGCTAGCAATGAACTTACTATGTTTGATGCACATTGGTTTGTAGCTTTTGAGGTCAGAATATTAAGGATTTATTATTCCTTCCATTTTTTTCAATAAATTATGAAGTACAGGCATCACTTGTAAAATTTGGTAGGAGAAGGTAAACAGCAAAGAGGGAACAATTTGTAGAGAGACAAATTTGAGGAAAGATATCACTTTGAAATAGTAATTCCAGAGAACAGGGAATATACAAACAACAG... | AATTGACATTTGAACTGAGATCTACAGGACAAGAAGGAACCAAAGGAAAAGGCTATTTGAGGACAAACAGCAGTTACCCCGGCTAGCAATGAACTTACTATGTTTGATGCACATTGGTTTGTAGCTTTTGAGGTCAGAATATTAAGGATTTATTATTCCTTCCATTTTTTTCAATAAATTATGAAGTACAGGCATCACTTGTAAAATTTGGTAGGAGAAGGTAAACAGCAAAGAGGGAACAATTTGTAGAGAGACAAATTTGAGGAAAGATATCACTTTGAAATAGTAATTCCAGAGAACAGGGAATATACAAACAACAG... | pathogenic | 158,432 |
Does the genetic variant at chromosome 10, position 25997137, impacting gene MYO3A (myosin IIIA), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | ATATCCTAAAGAGTGTTTTCCAACTTGGTTCCATTGTCCCTGCCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTCCCATGTTTCTTGGAAGCTTTGTTCATTTCTTTTTATTCTTTTTTCTCTAAACTTTTCGCTTCATTTCATTCATTTGATCTTCAATCGCTGATACCCTTTCTTCCAGTTGATCGAATCAGTTGCTGAAGCTTGTGCATTCATCATGTAGTTCTCGTGCCGTGGTTTTCAGCTCCATCAGGTCCTTTAAGGACTTCTCTGCATTGGTTATTCTAGTTAGCCATTTGTCTA... | ATATCCTAAAGAGTGTTTTCCAACTTGGTTCCATTGTCCCTGCCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTCCCATGTTTCTTGGAAGCTTTGTTCATTTCTTTTTATTCTTTTTTCTCTAAACTTTTCGCTTCATTTCATTCATTTGATCTTCAATCGCTGATACCCTTTCTTCCAGTTGATCGAATCAGTTGCTGAAGCTTGTGCATTCATCATGTAGTTCTCGTGCCGTGGTTTTCAGCTCCATCAGGTCCTTTAAGGACTTCTCTGCATTGGTTATTCTAGTTAGCCATTTGTCTA... | benign | 158,439 |
For chromosome 10, position 26016864, gene MYO3A (myosin IIIA): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic | ACTATGCTTTTCTCTCTGCTCTATTGAGATGTCAAGGGTTATAGCAAATTGAGTTCCCAGAAGTTGTCTGGTCTATTTGAGCCACAATAGAAAACACATATTTGATGTTTCTGCTGTCTTTCTAAGATCCTAAGAGTTTTCTTGACTACAAGAATAAAGCCTGCATGTTTCTATCCCTAGAAATAGCACTTATGCGATAGGGAATGGAGTTGCTGTACAGCCATGGAATAGCCCAGGAAGCCTTGTTGGACAGAACTAAAATAGCCTGAAAATTCCCTAGCAAAGCAAACGACTGAAGAAGCATTAACATAAACCTAAAC... | ACTATGCTTTTCTCTCTGCTCTATTGAGATGTCAAGGGTTATAGCAAATTGAGTTCCCAGAAGTTGTCTGGTCTATTTGAGCCACAATAGAAAACACATATTTGATGTTTCTGCTGTCTTTCTAAGATCCTAAGAGTTTTCTTGACTACAAGAATAAAGCCTGCATGTTTCTATCCCTAGAAATAGCACTTATGCGATAGGGAATGGAGTTGCTGTACAGCCATGGAATAGCCCAGGAAGCCTTGTTGGACAGAACTAAAATAGCCTGAAAATTCCCTAGCAAAGCAAACGACTGAAGAAGCATTAACATAAACCTAAAC... | pathogenic | 158,445 |
Is the variant located on chromosome 10 at position 26068818, gene MYO3A (myosin IIIA), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GAAGTAAATTCTGTAATTTGCATTTTTCCAATGGAAAGGAGTAAACAAACAGTAAAGATCAAATATATTAGGCTATTTTCTGGTATCTTATCATTGAATTTAATAAACAGATTCCTAGAGGATTTTCAGTATCATATGTATCTAAAACTTTTTTCCACTATGAGCAGTAATCAATTCTTAAATCAGAAAGCGTTTTTCTCCACAGACGTGAACGTATTCACACGAAGAAAGGGAACTTCAACCGACCTCTAATATCCAATCTGAAGGATGTAGATGATTTAGCAACCCTAGAAATTTTGGATGAGGTAAGAATTTCAGTT... | GAAGTAAATTCTGTAATTTGCATTTTTCCAATGGAAAGGAGTAAACAAACAGTAAAGATCAAATATATTAGGCTATTTTCTGGTATCTTATCATTGAATTTAATAAACAGATTCCTAGAGGATTTTCAGTATCATATGTATCTAAAACTTTTTTCCACTATGAGCAGTAATCAATTCTTAAATCAGAAAGCGTTTTTCTCCACAGACGTGAACGTATTCACACGAAGAAAGGGAACTTCAACCGACCTCTAATATCCAATCTGAAGGATGTAGATGATTTAGCAACCCTAGAAATTTTGGATGAGGTAAGAATTTCAGTT... | benign | 158,470 |
Evaluate this variant at chromosome 10, position 26088211, gene MYO3A (myosin IIIA): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_30', 'Sensorineural_hearing_loss_disorder'] | AAAAACTTACAATCGTGGGCAGAAGGTGAAGGGCAAGCAAGCACAACAAAGCAGGAGAGAGAGAAAGAGGCAGCAAAGGGGGAAATGCCACTGTTAAACCATCAGGTCTCATGAGAACTCAGTCATTATCACAAGAACAGTGAGGGGGAAATCCGCCCCCATGATTTAATCACCTCTCACCAGGCCCCCTCCCCTGACACGTGGGGATTACAATTTGACATGAGATTTGGGTGGGGACACAGAGCCAAACCATATCAGAGGGAGAGCACTAGGAGCTTCTGGCCAACCATCTTGATGTCACTCCTAATTCAAAATGATGA... | AAAAACTTACAATCGTGGGCAGAAGGTGAAGGGCAAGCAAGCACAACAAAGCAGGAGAGAGAGAAAGAGGCAGCAAAGGGGGAAATGCCACTGTTAAACCATCAGGTCTCATGAGAACTCAGTCATTATCACAAGAACAGTGAGGGGGAAATCCGCCCCCATGATTTAATCACCTCTCACCAGGCCCCCTCCCCTGACACGTGGGGATTACAATTTGACATGAGATTTGGGTGGGGACACAGAGCCAAACCATATCAGAGGGAGAGCACTAGGAGCTTCTGGCCAACCATCTTGATGTCACTCCTAATTCAAAATGATGA... | pathogenic | 158,475 |
Evaluate the clinical significance of the mutation at chromosome 10, position 26193270 in gene MYO3A (myosin IIIA): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic | ATTTAATAATCAGCACTGGGAGAGAGGATAATGAGAAGGAAAAAAATAAAAGAACACTATTTATGATGGTGGCAAGAATTCAGGCCTTACCATCTTTCCTCGTGCCTGTGACAGTCTAAGATGGATCCAGAAATGGCTCAGATATTTGGACTCCCTCCACCTCCTCCATCTATTCCTTGAAAAAGGGAGAGAGGGAATGGGAGATGAACCTCCAGGGATGGGTTGGACAGTGCTTTCACTTTTGTTTATTACTAATCTGTACTAACATGGTCTCATTGACAAAGATCTCTTTTTGTTTTATTCAAAAAAGACAGTAATGT... | ATTTAATAATCAGCACTGGGAGAGAGGATAATGAGAAGGAAAAAAATAAAAGAACACTATTTATGATGGTGGCAAGAATTCAGGCCTTACCATCTTTCCTCGTGCCTGTGACAGTCTAAGATGGATCCAGAAATGGCTCAGATATTTGGACTCCCTCCACCTCCTCCATCTATTCCTTGAAAAAGGGAGAGAGGGAATGGGAGATGAACCTCCAGGGATGGGTTGGACAGTGCTTTCACTTTTGTTTATTACTAATCTGTACTAACATGGTCTCATTGACAAAGATCTCTTTTTGTTTTATTCAAAAAAGACAGTAATGT... | pathogenic | 158,522 |
Clinical significance of chromosome 10, position 26702138, gene PDSS1 (decaprenyl diphosphate synthase subunit 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GTGAACAAATATTGTAATACAATAAAAACCAGTGTGCATGTGATCGTGCCAAATCACTTCTCAATATATCTTTGATTTTTTTTTTTAATTTATTTTTTTAGAGACGGGGACTTTTTGTGTTGGCCAGGTTGGTCTTGAACTCTTGGACTCAAGCCATTCCCCCCTCCCCCCCACCCCGCTTGAGGATTGGCACACGGCCATGTATTTGATTCTTACCCAGCACTTTCTCTTTAGCTGAGCGTGGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCGAGGCAGGAGAATCCCTTTAGCTCAGGAGTTCGAGACCAG... | GTGAACAAATATTGTAATACAATAAAAACCAGTGTGCATGTGATCGTGCCAAATCACTTCTCAATATATCTTTGATTTTTTTTTTTAATTTATTTTTTTAGAGACGGGGACTTTTTGTGTTGGCCAGGTTGGTCTTGAACTCTTGGACTCAAGCCATTCCCCCCTCCCCCCCACCCCGCTTGAGGATTGGCACACGGCCATGTATTTGATTCTTACCCAGCACTTTCTCTTTAGCTGAGCGTGGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCGAGGCAGGAGAATCCCTTTAGCTCAGGAGTTCGAGACCAG... | benign | 158,549 |
Assess the variant on chromosome 10, position 26704668, impacting PDSS1 (decaprenyl diphosphate synthase subunit 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TCTTTCTTTTATAAATTACCCAGTCTTGGGTATTTCTTTATAGCAATGTGAAAACATACTAATACACCTCGTTTCTAAAAATCAGCTACGCATTGTGGCATGTTCCTGTAGTCCCAGCTACTCAGTAGGCTGAGGTGGGAAGATAGCTTGAGCCCAGGAGATTGAGGCTGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGAAAAATAAAATAAAAGTAAATTCATGAGAGGCAAGGTTGACTTTCAGAGAGTGTGTGAGGGAAAGGTAAGAAACAAAATCGGAATTAGAAAATGACTGTTGCCCCTCTCTTTT... | TCTTTCTTTTATAAATTACCCAGTCTTGGGTATTTCTTTATAGCAATGTGAAAACATACTAATACACCTCGTTTCTAAAAATCAGCTACGCATTGTGGCATGTTCCTGTAGTCCCAGCTACTCAGTAGGCTGAGGTGGGAAGATAGCTTGAGCCCAGGAGATTGAGGCTGCAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGAAAAATAAAATAAAAGTAAATTCATGAGAGGCAAGGTTGACTTTCAGAGAGTGTGTGAGGGAAAGGTAAGAAACAAAATCGGAATTAGAAAATGACTGTTGCCCCTCTCTTTT... | benign | 158,554 |
Variant at chromosome position 27005520, chromosome 10, gene ANKRD26 (ankyrin repeat domain containing 26): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GTGAAGTTCTGAGTAGTAGCCAGATATTTACAAAGCCTCAAAGTATCTTTATACAAGATATTTATGAAATACAAAGTATATAGTAGCTTAACCATGGACAAACATGGCAGGATGTTGACTTTGATTATTTCAACAAATCAAATAATCAAAGTCAACATTGGCCAGTAATGGAAGTGAGTGACAGCAGATGCCTCCAGATGCTGCATTGCAGAGAACTCAGCCTGTGTGAAAGCCCCGCCCGAATGGCACAACCTAAAGCTAATCATGAGGAAACACTGTACAAACCAAAATGGAGAGAACGCCTACAAAACAGCTGACCT... | GTGAAGTTCTGAGTAGTAGCCAGATATTTACAAAGCCTCAAAGTATCTTTATACAAGATATTTATGAAATACAAAGTATATAGTAGCTTAACCATGGACAAACATGGCAGGATGTTGACTTTGATTATTTCAACAAATCAAATAATCAAAGTCAACATTGGCCAGTAATGGAAGTGAGTGACAGCAGATGCCTCCAGATGCTGCATTGCAGAGAACTCAGCCTGTGTGAAAGCCCCGCCCGAATGGCACAACCTAAAGCTAATCATGAGGAAACACTGTACAAACCAAAATGGAGAGAACGCCTACAAAACAGCTGACCT... | benign | 158,594 |
Considering the genetic mutation at chromosome 10, position 27029370, impacting ANKRD26 (ankyrin repeat domain containing 26): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GCAATTCATTCTGAAATTCTCACTGAAGGGTTTAGATTATAAAAGAAATTCAGAATTGTAGATCAAGTCACTACTCAAATTTCTTAGAATTTCAAAAGATATTACAAATATTAGCAGAGACTCAGACAATTGTACACCATATCCATAGCAGCATTATTCACAATAAGCAAAAGGCAGAAATAATCCGAACGTCCATCAATGGATGAGTGAACAAACAAAATGTATATAAAAAACACTGTTTTTAGTCTATCATAATCTTTTTTATTAAAATCTTACTACCAAACTCATTAATGTTATGAATTCAGTCAACTTCTATAAAG... | GCAATTCATTCTGAAATTCTCACTGAAGGGTTTAGATTATAAAAGAAATTCAGAATTGTAGATCAAGTCACTACTCAAATTTCTTAGAATTTCAAAAGATATTACAAATATTAGCAGAGACTCAGACAATTGTACACCATATCCATAGCAGCATTATTCACAATAAGCAAAAGGCAGAAATAATCCGAACGTCCATCAATGGATGAGTGAACAAACAAAATGTATATAAAAAACACTGTTTTTAGTCTATCATAATCTTTTTTATTAAAATCTTACTACCAAACTCATTAATGTTATGAATTCAGTCAACTTCTATAAAG... | benign | 158,626 |
Does the variant on chromosome 10 at location 27044192 affecting gene ANKRD26 (ankyrin repeat domain containing 26) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | ACATGTACGCAGCCAACATATTTTTGACAAAGGCACAATGGCAAATGCAGTGGGAAAAGGCTAGCCTTTCTGATGTATGATGCTGGAACAATATGTCCATATCCAAAAAAATGAACTTGAATCCATACTTCAATCCATACAAAAATATGAACTCAAAATGGATCACACACCTAAATGTAAGACGCAAAACTGGCTGGGCACGGTGGCTCACGCCCGAAATCCCAGCACTCTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCCGCCTCTATTAAAAATACA... | ACATGTACGCAGCCAACATATTTTTGACAAAGGCACAATGGCAAATGCAGTGGGAAAAGGCTAGCCTTTCTGATGTATGATGCTGGAACAATATGTCCATATCCAAAAAAATGAACTTGAATCCATACTTCAATCCATACAAAAATATGAACTCAAAATGGATCACACACCTAAATGTAAGACGCAAAACTGGCTGGGCACGGTGGCTCACGCCCGAAATCCCAGCACTCTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCCGCCTCTATTAAAAATACA... | benign | 158,678 |
Is chromosome 10, position 27053356, gene ANKRD26 (ankyrin repeat domain containing 26) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GTAAGCGTCTGTACCAGCAGAAATACTATGCCTTTTTATGTGAAACATATGATTCATTTCTTTGGAGCAGATCAAATCAAAAGGTCTTTTTGGATCACTATACTGAGGCACACGTCTGATGTCTAATTTCCAGTTAGTGGTATTTCGGTTCATATTTTTTGTCTTATCAAACTCTTCTTTCATTACACCTGTAACTACTTCTGGGTTCCTTACTTTTTTATTTTCTGTATCATTATAAAAATTCTCATCTGTGTTAAAAACATGTTCAGTGTCTGGTTTGTTAACATTTTCATGGCCTAATTTATTTTCATTTAAATAAG... | GTAAGCGTCTGTACCAGCAGAAATACTATGCCTTTTTATGTGAAACATATGATTCATTTCTTTGGAGCAGATCAAATCAAAAGGTCTTTTTGGATCACTATACTGAGGCACACGTCTGATGTCTAATTTCCAGTTAGTGGTATTTCGGTTCATATTTTTTGTCTTATCAAACTCTTCTTTCATTACACCTGTAACTACTTCTGGGTTCCTTACTTTTTTATTTTCTGTATCATTATAAAAATTCTCATCTGTGTTAAAAACATGTTCAGTGTCTGGTTTGTTAACATTTTCATGGCCTAATTTATTTTCATTTAAATAAG... | benign | 158,695 |
Does the genetic variant at chromosome 10, position 27066474, impacting gene ANKRD26 (ankyrin repeat domain containing 26), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AATAAGAGGGGAGCTTCTCTGAACTTATTCCGGTTCGGGGGATGCCTGATTAAGAGGGAAAAAAAAGTGTATTTTAAAAAATAGAATACACTTGCTATAGTACAGCGTTAAACATTTAAAATATTTCTAATTATAGAAATATTTAGTGTTAAGATATGTGGCATGATAAGAAACTCTGGAGTATGCCCTGTTAAGTATAAATAGAACACTGCAGAAGCTGCTTCATTTAAGTAAACAATGGCTTAGAAAAATCTAAATACTTTTTGATACAACTTTTACTGATAGGAAAATGGTTGACTAAAATGAGAAAGCAGTAAGAA... | AATAAGAGGGGAGCTTCTCTGAACTTATTCCGGTTCGGGGGATGCCTGATTAAGAGGGAAAAAAAAGTGTATTTTAAAAAATAGAATACACTTGCTATAGTACAGCGTTAAACATTTAAAATATTTCTAATTATAGAAATATTTAGTGTTAAGATATGTGGCATGATAAGAAACTCTGGAGTATGCCCTGTTAAGTATAAATAGAACACTGCAGAAGCTGCTTCATTTAAGTAAACAATGGCTTAGAAAAATCTAAATACTTTTTGATACAACTTTTACTGATAGGAAAATGGTTGACTAAAATGAGAAAGCAGTAAGAA... | benign | 158,711 |
Chromosome 10, position 27066477, gene ANKRD26 (ankyrin repeat domain containing 26): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AAGAGGGGAGCTTCTCTGAACTTATTCCGGTTCGGGGGATGCCTGATTAAGAGGGAAAAAAAAGTGTATTTTAAAAAATAGAATACACTTGCTATAGTACAGCGTTAAACATTTAAAATATTTCTAATTATAGAAATATTTAGTGTTAAGATATGTGGCATGATAAGAAACTCTGGAGTATGCCCTGTTAAGTATAAATAGAACACTGCAGAAGCTGCTTCATTTAAGTAAACAATGGCTTAGAAAAATCTAAATACTTTTTGATACAACTTTTACTGATAGGAAAATGGTTGACTAAAATGAGAAAGCAGTAAGAAAAA... | AAGAGGGGAGCTTCTCTGAACTTATTCCGGTTCGGGGGATGCCTGATTAAGAGGGAAAAAAAAGTGTATTTTAAAAAATAGAATACACTTGCTATAGTACAGCGTTAAACATTTAAAATATTTCTAATTATAGAAATATTTAGTGTTAAGATATGTGGCATGATAAGAAACTCTGGAGTATGCCCTGTTAAGTATAAATAGAACACTGCAGAAGCTGCTTCATTTAAGTAAACAATGGCTTAGAAAAATCTAAATACTTTTTGATACAACTTTTACTGATAGGAAAATGGTTGACTAAAATGAGAAAGCAGTAAGAAAAA... | benign | 158,712 |
A genetic alteration at chromosome 10, position 27147532, in gene YME1L1 (YME1 like 1 ATPase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GAAATGTTTTTGCCTTTACAAAATCCAGGAAGTAGATTTTCTACCAGCTGATCAATCTGTCCAATTTTTAGTTCAGATAATCCAAGGTCCCTTAAGTTAAGTGAAGGCTGTAAAAGATTGGGTCAACCAGGTATGCATTAATATTATCAAGATATTTAACCTAAGGAGTACATATTATCAGTTAAAACAATCAGATTTTAAAAGTCTAACAAATATATTTCCTTTTTTTAATATTTAAAAATAAATTGATGCAAATATTTTCACAGTTCGTTTTACTGAGATCAGTCATATGAGGTTTGACATAGGTTAAAAAATTATAT... | GAAATGTTTTTGCCTTTACAAAATCCAGGAAGTAGATTTTCTACCAGCTGATCAATCTGTCCAATTTTTAGTTCAGATAATCCAAGGTCCCTTAAGTTAAGTGAAGGCTGTAAAAGATTGGGTCAACCAGGTATGCATTAATATTATCAAGATATTTAACCTAAGGAGTACATATTATCAGTTAAAACAATCAGATTTTAAAAGTCTAACAAATATATTTCCTTTTTTTAATATTTAAAAATAAATTGATGCAAATATTTTCACAGTTCGTTTTACTGAGATCAGTCATATGAGGTTTGACATAGGTTAAAAAATTATAT... | benign | 158,823 |
Is the chromosome 10, position 27533690 variant in RAB18 (RAB18, member RAS oncogene family) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AATAAAACTTTATTTAATAAAACAGGTGGTGGGCTGAGCTGCTTTGTATAATCTTAGGTACCTTGAATCCATAGTCCAAGGATGGTAGAAAGACAAGAGAGAGAAGGAATTGGGCCCGGAAGTAAAGGCTTGTTAAATAGGTTCATTCTTTTTTTTTTTTCTCAACAAATTCTGAGCAACTGCCTTTTTTCAAGAATTGGTCTCAGCACAATGGTTAAACTGGTGATTAAACAGATGAGTCCCTGCTTTATGAAATTTACATTTTCTACCTAGTGTACATTGTTCACTAACCCTAACATGAGTCAGAAATAACATGTAAT... | AATAAAACTTTATTTAATAAAACAGGTGGTGGGCTGAGCTGCTTTGTATAATCTTAGGTACCTTGAATCCATAGTCCAAGGATGGTAGAAAGACAAGAGAGAGAAGGAATTGGGCCCGGAAGTAAAGGCTTGTTAAATAGGTTCATTCTTTTTTTTTTTTCTCAACAAATTCTGAGCAACTGCCTTTTTTCAAGAATTGGTCTCAGCACAATGGTTAAACTGGTGATTAAACAGATGAGTCCCTGCTTTATGAAATTTACATTTTCTACCTAGTGTACATTGTTCACTAACCCTAACATGAGTCAGAAATAACATGTAAT... | benign | 158,907 |
Does the chromosome 10 mutation at position 27533727 within gene RAB18 (RAB18, member RAS oncogene family) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GCTGCTTTGTATAATCTTAGGTACCTTGAATCCATAGTCCAAGGATGGTAGAAAGACAAGAGAGAGAAGGAATTGGGCCCGGAAGTAAAGGCTTGTTAAATAGGTTCATTCTTTTTTTTTTTTCTCAACAAATTCTGAGCAACTGCCTTTTTTCAAGAATTGGTCTCAGCACAATGGTTAAACTGGTGATTAAACAGATGAGTCCCTGCTTTATGAAATTTACATTTTCTACCTAGTGTACATTGTTCACTAACCCTAACATGAGTCAGAAATAACATGTAATAAAGAATGGCTTGGTTATATGCATTTTCTCAAAAGGA... | GCTGCTTTGTATAATCTTAGGTACCTTGAATCCATAGTCCAAGGATGGTAGAAAGACAAGAGAGAGAAGGAATTGGGCCCGGAAGTAAAGGCTTGTTAAATAGGTTCATTCTTTTTTTTTTTTCTCAACAAATTCTGAGCAACTGCCTTTTTTCAAGAATTGGTCTCAGCACAATGGTTAAACTGGTGATTAAACAGATGAGTCCCTGCTTTATGAAATTTACATTTTCTACCTAGTGTACATTGTTCACTAACCCTAACATGAGTCAGAAATAACATGTAATAAAGAATGGCTTGGTTATATGCATTTTCTCAAAAGGA... | benign | 158,909 |
Considering the variant on chromosome 10, location 27981543, involving gene ODAD2 (outer dynein arm docking complex subunit 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Primary_ciliary_dyskinesia_23'] | TTGCGAAATTCAATCTTGATTTTAACACTCAAAAATTAGATCTGATTTGATCACTCAAAAGCTGTATTTCTATACACTAGCAGTGAATAATTGAAAATAAAATTTAGAAAACAATTTCATTTACAGTAGCATCAAAAATAATAAAATGTTAATGAGTAAATATAATGAAGGAGAAAAACTTGTACACTGAAAACTTCTAAACATTGCTGAAAGCCATTAAATATACAAATAAATGGAAAGCTATCTCCTGTTCATAAACTGGAGAACTTAATATGGTTAAGATGGCAATACTATGTAAAGCAATTCATAAATTCAATGAA... | TTGCGAAATTCAATCTTGATTTTAACACTCAAAAATTAGATCTGATTTGATCACTCAAAAGCTGTATTTCTATACACTAGCAGTGAATAATTGAAAATAAAATTTAGAAAACAATTTCATTTACAGTAGCATCAAAAATAATAAAATGTTAATGAGTAAATATAATGAAGGAGAAAAACTTGTACACTGAAAACTTCTAAACATTGCTGAAAGCCATTAAATATACAAATAAATGGAAAGCTATCTCCTGTTCATAAACTGGAGAACTTAATATGGTTAAGATGGCAATACTATGTAAAGCAATTCATAAATTCAATGAA... | pathogenic | 159,002 |
Is the chromosome 10, position 27985216 variant in ODAD2 (outer dynein arm docking complex subunit 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CCAGAAACAGGCTCACCTCACCCCCTGGGAAATATCACTATCAGTCATCCAGTGCTCCATTTTCAAAGGTCCAGGTCCCAGCTCTGCCATCTCTACAAGGATCCTCTTCCCGAGGTATGAGCATTAACTGGGCAGTGCCCACTCTTCAGAGATCTGGAGCCCTGCCTCATGGAGATGGTCTGAACTCTGTGGGGACCAGCACAGCCTGGAAGTGGACCCTCCCAAGAGGTCTGGGTCCCAGCTTCATAGGGCACTGTCTCCTACCTTCTACATTTAGATAAGCCCCTCTCTTTCCCTTTGTCCCTCCAACTCTTAGGATG... | CCAGAAACAGGCTCACCTCACCCCCTGGGAAATATCACTATCAGTCATCCAGTGCTCCATTTTCAAAGGTCCAGGTCCCAGCTCTGCCATCTCTACAAGGATCCTCTTCCCGAGGTATGAGCATTAACTGGGCAGTGCCCACTCTTCAGAGATCTGGAGCCCTGCCTCATGGAGATGGTCTGAACTCTGTGGGGACCAGCACAGCCTGGAAGTGGACCCTCCCAAGAGGTCTGGGTCCCAGCTTCATAGGGCACTGTCTCCTACCTTCTACATTTAGATAAGCCCCTCTCTTTCCCTTTGTCCCTCCAACTCTTAGGATG... | benign | 159,017 |
Does the variant on chromosome 10 at location 28535735 affecting gene WAC (WW domain containing adaptor with coiled-coil) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic | TATCTGGAGCTGGCCGGGCCGCCATTTTTGTTGTTAACCCTGATCCGGATCGGGTTGGGGAGGAGGAGCGGCCGCGCGGGCGGGCGGGCGGGAACGCAGTGTGGCGGGGAGCGGGGGCCCGGCTTCGCGGCATTTCGCCCTCTCCGGCCCTTCCGGAGGCTCCGGGTTTGTGCCGTGTGCGTGCGGGGCTCGGCGCTGGGGCGCTCGGTAGGTCTCCCGCGGGGAGGGGCGGCGGGGGCCCCGTTTTCTTCCTCCCCGGCCCCCCACCCGCGCCGTGTCTTATGTCGCTGCCTTCTCTTCCTGTTTTTCAGCTGTCACGA... | TATCTGGAGCTGGCCGGGCCGCCATTTTTGTTGTTAACCCTGATCCGGATCGGGTTGGGGAGGAGGAGCGGCCGCGCGGGCGGGCGGGCGGGAACGCAGTGTGGCGGGGAGCGGGGGCCCGGCTTCGCGGCATTTCGCCCTCTCCGGCCCTTCCGGAGGCTCCGGGTTTGTGCCGTGTGCGTGCGGGGCTCGGCGCTGGGGCGCTCGGTAGGTCTCCCGCGGGGAGGGGCGGCGGGGGCCCCGTTTTCTTCCTCCCCGGCCCCCCACCCGCGCCGTGTCTTATGTCGCTGCCTTCTCTTCCTGTTTTTCAGCTGTCACGA... | pathogenic | 159,033 |
Clinical significance of chromosome 10, position 28535741, gene WAC (WW domain containing adaptor with coiled-coil): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['DeSanto-Shinawi_syndrome_due_to_WAC_point_mutation', 'Inborn_genetic_diseases'] | GAGCTGGCCGGGCCGCCATTTTTGTTGTTAACCCTGATCCGGATCGGGTTGGGGAGGAGGAGCGGCCGCGCGGGCGGGCGGGCGGGAACGCAGTGTGGCGGGGAGCGGGGGCCCGGCTTCGCGGCATTTCGCCCTCTCCGGCCCTTCCGGAGGCTCCGGGTTTGTGCCGTGTGCGTGCGGGGCTCGGCGCTGGGGCGCTCGGTAGGTCTCCCGCGGGGAGGGGCGGCGGGGGCCCCGTTTTCTTCCTCCCCGGCCCCCCACCCGCGCCGTGTCTTATGTCGCTGCCTTCTCTTCCTGTTTTTCAGCTGTCACGACCGGAG... | GAGCTGGCCGGGCCGCCATTTTTGTTGTTAACCCTGATCCGGATCGGGTTGGGGAGGAGGAGCGGCCGCGCGGGCGGGCGGGCGGGAACGCAGTGTGGCGGGGAGCGGGGGCCCGGCTTCGCGGCATTTCGCCCTCTCCGGCCCTTCCGGAGGCTCCGGGTTTGTGCCGTGTGCGTGCGGGGCTCGGCGCTGGGGCGCTCGGTAGGTCTCCCGCGGGGAGGGGCGGCGGGGGCCCCGTTTTCTTCCTCCCCGGCCCCCCACCCGCGCCGTGTCTTATGTCGCTGCCTTCTCTTCCTGTTTTTCAGCTGTCACGACCGGAG... | pathogenic | 159,034 |
Does the variant impacting WAC (WW domain containing adaptor with coiled-coil) on chromosome 10, position 28583432, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['DeSanto-Shinawi_syndrome_due_to_WAC_point_mutation'] | TCAGTGAGCACCTCTTTCACCTCTTTATCAGTTAGGGTTGTGAGATCCCTCTGGAAGTCTAGATTCCCACATGTCTGTCAAGGGCCAGCTGTGCCAGAAAGCCTTTCTAAAGATAGCAGTCTCTGGGCTTCTGTTAACTTTTCCTGTATACTCAGCCTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATTCTCAGCTCACTGCAACCTCGCCTCCCAGGTTCAAGTGATGCTCATGCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG... | TCAGTGAGCACCTCTTTCACCTCTTTATCAGTTAGGGTTGTGAGATCCCTCTGGAAGTCTAGATTCCCACATGTCTGTCAAGGGCCAGCTGTGCCAGAAAGCCTTTCTAAAGATAGCAGTCTCTGGGCTTCTGTTAACTTTTCCTGTATACTCAGCCTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATTCTCAGCTCACTGCAACCTCGCCTCCCAGGTTCAAGTGATGCTCATGCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG... | pathogenic | 159,036 |
A genetic variant on chromosome 10, position 28595788, affects the gene WAC (WW domain containing adaptor with coiled-coil). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['DeSanto-Shinawi_syndrome_due_to_WAC_point_mutation'] | AAAATAAAATATTTTATCAAATGTTAATATTCTCCACAACTTGATACTGAAAATTATATGGATAAAATTTTTAATTTGCGTTTAACTGCTACTAATTTTTATTTTTGCAAACCTGTGCTTTATATGTTGATGGCTCTATGTTTAGAGAAACCTTACTTAGGGTTTCTCAACAGAAGCACTAATGACACTTTGGGTGAAGTAATTGTTATGGAAGGCTTTCCTGTTTTGTAGGTTGTTGAGCACCATAACTGGCCTCTCCTCACTAGATGCCAGTAGCATACCTCCCCTCTCTCCAGTCAGGACAAGCAAAGCACCACCCT... | AAAATAAAATATTTTATCAAATGTTAATATTCTCCACAACTTGATACTGAAAATTATATGGATAAAATTTTTAATTTGCGTTTAACTGCTACTAATTTTTATTTTTGCAAACCTGTGCTTTATATGTTGATGGCTCTATGTTTAGAGAAACCTTACTTAGGGTTTCTCAACAGAAGCACTAATGACACTTTGGGTGAAGTAATTGTTATGGAAGGCTTTCCTGTTTTGTAGGTTGTTGAGCACCATAACTGGCCTCTCCTCACTAGATGCCAGTAGCATACCTCCCCTCTCTCCAGTCAGGACAAGCAAAGCACCACCCT... | pathogenic | 159,047 |
Chromosome 10, position 28608424, gene WAC (WW domain containing adaptor with coiled-coil): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | TTGAGTTTCTTTATGCTTGTCTATGAATCCAGAACAGTAAAGCTGAAAATAATAGGCAGTCTGCTGGATTCAAGCACCTTCCTTTAAAAGTGTATACCCTTACGCAAATAAAAATATCTTAGTCCTTCTGAGTTCATCATGGTTAATCAACACATTTTTGAAATGTACTTAAATCAGCTGTGAGATCCACACTTTAGAGAGCTATTATCCCTAGTTCTTTCGACCATTATAGTAGTGTAAAAAGACTCATAGGGGAGTCTGTTTTCAATAAGCTTGCTAGTACTGTATATATGATCTTGAAAATCTTAAAGAAATAGGTT... | TTGAGTTTCTTTATGCTTGTCTATGAATCCAGAACAGTAAAGCTGAAAATAATAGGCAGTCTGCTGGATTCAAGCACCTTCCTTTAAAAGTGTATACCCTTACGCAAATAAAAATATCTTAGTCCTTCTGAGTTCATCATGGTTAATCAACACATTTTTGAAATGTACTTAAATCAGCTGTGAGATCCACACTTTAGAGAGCTATTATCCCTAGTTCTTTCGACCATTATAGTAGTGTAAAAAGACTCATAGGGGAGTCTGTTTTCAATAAGCTTGCTAGTACTGTATATATGATCTTGAAAATCTTAAAGAAATAGGTT... | pathogenic | 159,050 |
Variant at chromosome 10, position 31520904, gene ZEB1 (zinc finger E-box binding homeobox 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Corneal_dystrophy'] | CTTCCAATTCTTATATATGATTCTTCAAATAATCATATTTATTAGAAAATATAACTCACATGTTTAAACTATAGCATTGAAGTTACTATTAAGCAATTTTTAGTAGGGCTTAAATTGATTCCTCACTGCTTTCATTTTAATTCTTAAAAAGAGCAGGAGATGGAGAGTTTTATTTTGATACTAAGTAGACAAATCAGTGTCATCACATCTCATCATTCAACAATTAGCCATTCACTCATCCAAAAAAGGTTTAATGAGCATCTTTGCAACCTGTACTTTGATGGGTGCAAGGGATAAATGGCAAACAAGCCTCAGAGGCT... | CTTCCAATTCTTATATATGATTCTTCAAATAATCATATTTATTAGAAAATATAACTCACATGTTTAAACTATAGCATTGAAGTTACTATTAAGCAATTTTTAGTAGGGCTTAAATTGATTCCTCACTGCTTTCATTTTAATTCTTAAAAAGAGCAGGAGATGGAGAGTTTTATTTTGATACTAAGTAGACAAATCAGTGTCATCACATCTCATCATTCAACAATTAGCCATTCACTCATCCAAAAAAGGTTTAATGAGCATCTTTGCAACCTGTACTTTGATGGGTGCAAGGGATAAATGGCAAACAAGCCTCAGAGGCT... | pathogenic | 159,232 |
Is the chromosome 10, position 31527081 variant in ZEB1 (zinc finger E-box binding homeobox 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AGTTTTTGATTTTGTTTTTACATTTTTAAATGATTGGAAAAGATGAAAAGAATATTTATGACTGATGAAAATTATGTGAAAGTCAAATATCAGCATCCGTAAATAAAATTAGTTGGAAGACAGCATCGCCTATTCATTTACATTTTGTCTATGTCAGCTTTCATGCTGTTCTACAATGGCAGGATTGAGAAGCTACTACAGAGACCATTTGGCCTGCAAAGCCTTTAATACTCACTACCCTTTACAGAAAATAGTTGCCAACTCCTGGCCTATTTCATTCCTTCCATCAGTGAAGTACTGATAAATTTTAACACCTGGTT... | AGTTTTTGATTTTGTTTTTACATTTTTAAATGATTGGAAAAGATGAAAAGAATATTTATGACTGATGAAAATTATGTGAAAGTCAAATATCAGCATCCGTAAATAAAATTAGTTGGAAGACAGCATCGCCTATTCATTTACATTTTGTCTATGTCAGCTTTCATGCTGTTCTACAATGGCAGGATTGAGAAGCTACTACAGAGACCATTTGGCCTGCAAAGCCTTTAATACTCACTACCCTTTACAGAAAATAGTTGCCAACTCCTGGCCTATTTCATTCCTTCCATCAGTGAAGTACTGATAAATTTTAACACCTGGTT... | benign | 159,239 |
Mutation at chromosome 10, position 32035938, within KIF5B (kinesin family member 5B): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hypertrophic_cardiomyopathy', 'Multiple_joint_contractures', 'Ophthalmoplegia', 'Primary_dilated_cardiomyopathy', 'Skeletal_myopathy'] | CTTTCTTCTTTCAGCATCAGTAAAATTTCCTATAACTCCAATTGCGGTTGCTGGTTTATCATTGGTAAGAGTAATATCTTTATCCACTGTGAAAGCTTCCAAGTTGGCTTTCTCTTTGTCAAACTGTTCATCAATAGGCACCGTCTCCCCTAAAATAAGAAAATAAAGTGGTTAATAAAAAAACGACGTCTAAAGCTAATTTCAATTTCATTCCTTTAAAAATTTTTTTTTTTTTTTTTGAGACAGAGTCTCAATCTGTCACCCTGGCTGGAGTGCAGTGGTGCAATCTAGGCTCACTGCAACCTCTGCCTCCAGGGTTC... | CTTTCTTCTTTCAGCATCAGTAAAATTTCCTATAACTCCAATTGCGGTTGCTGGTTTATCATTGGTAAGAGTAATATCTTTATCCACTGTGAAAGCTTCCAAGTTGGCTTTCTCTTTGTCAAACTGTTCATCAATAGGCACCGTCTCCCCTAAAATAAGAAAATAAAGTGGTTAATAAAAAAACGACGTCTAAAGCTAATTTCAATTTCATTCCTTTAAAAATTTTTTTTTTTTTTTTTGAGACAGAGTCTCAATCTGTCACCCTGGCTGGAGTGCAGTGGTGCAATCTAGGCTCACTGCAACCTCTGCCTCCAGGGTTC... | pathogenic | 159,243 |
Mutation found at chromosome 10 position 43106371, gene RET (ret proto-oncogene): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GGTCACCAATATGGTGAAAGGCCGTCCCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCCTGAACCCGGGAGTTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACACAGCGAGACTCCATCAAAAACAAAAAAAAAGCAGCCAAGGCCAGTAGCTGGCTCTCTAGGGCTGCAGTGCAGCTTGGGCTGAGGCAAAGCCACCCTTCCCCACACAAGGCCACTCCTGATCAAGGCCAGGTGGGCGGAGGGGT... | GGTCACCAATATGGTGAAAGGCCGTCCCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCCTGAACCCGGGAGTTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACACAGCGAGACTCCATCAAAAACAAAAAAAAAGCAGCCAAGGCCAGTAGCTGGCTCTCTAGGGCTGCAGTGCAGCTTGGGCTGAGGCAAAGCCACCCTTCCCCACACAAGGCCACTCCTGATCAAGGCCAGGTGGGCGGAGGGGT... | benign | 159,455 |
Is the chromosome 10, position 43111197 variant in RET (ret proto-oncogene) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CGTGTCGGTGCTGCCGGTCAGCCTGCACCTGCCCAGTACCTACTCCCTCTCCGTGAGCAGGAGGGCTCGCCGATTTGCCCAGGTGAGCCCATACCTATTGCCTGTCTGGGGAAGATTGAAAGGCCAAGGGACATGGGGGCACAGGGAGGCAGGTGACACTGCCTCTTGGCCCAACCAGCACAGAGTAGACTGGGTGGAGTCCTGAGCCCAGGGCCAGGAGGTACAGCTGTGTGCACAGAAGAGGCCTGGGAGAGCTCACAGTGGGCAGGGCTGGGGGCTCCTTGGGCCTCTCTTTTTTTCCCCTTTCCATTCTTGGTATC... | CGTGTCGGTGCTGCCGGTCAGCCTGCACCTGCCCAGTACCTACTCCCTCTCCGTGAGCAGGAGGGCTCGCCGATTTGCCCAGGTGAGCCCATACCTATTGCCTGTCTGGGGAAGATTGAAAGGCCAAGGGACATGGGGGCACAGGGAGGCAGGTGACACTGCCTCTTGGCCCAACCAGCACAGAGTAGACTGGGTGGAGTCCTGAGCCCAGGGCCAGGAGGTACAGCTGTGTGCACAGAAGAGGCCTGGGAGAGCTCACAGTGGGCAGGGCTGGGGGCTCCTTGGGCCTCTCTTTTTTTCCCCTTTCCATTCTTGGTATC... | benign | 159,531 |
Is the genetic mutation found on chromosome 10 at position 43113553, within the gene RET (ret proto-oncogene), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GGGCTTCTGGAGCCTGGGCCTCCTGCCCTTTGAGAAAAGCAGTACAGCTGCAAGGCTTAGCTGGGGAGTGGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCC... | GGGCTTCTGGAGCCTGGGCCTCCTGCCCTTTGAGAAAAGCAGTACAGCTGCAAGGCTTAGCTGGGGAGTGGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCC... | pathogenic | 159,623 |
Assess the variant on chromosome 10, position 43114598, impacting RET (ret proto-oncogene): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Multiple_endocrine_neoplasia,_type_2', 'Multiple_endocrine_neoplasia_type_2A'] | GTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTC... | GTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCTCCTCCCTAGAGGGGCAGGATCTGCCTAGGAGGTGGTGGGGGCGTGTGGCGGGGCTCCCACATGGGTGACAGCCTGCTGTGTGTCCTGTGCAGGGATCACCAGGAACTTC... | pathogenic | 159,693 |
Is the variant located on chromosome 10 at position 43116565, gene RET (ret proto-oncogene), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCT... | AGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCCCAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATGGAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTGGTGAGGGTCCCTGCGGGGCAGGGAAGATCCCCTGCCCTCCCCAGCTGCCTTCCAGGGAGGGAGGCCAGCTGGGGAGACAGAGGCCATCCTGTGAGGGGCT... | benign | 159,714 |
Variant chromosome 10, position 43118392, gene RET (ret proto-oncogene): benign or pathogenic? Disease(s)? | pathogenic; ['Multiple_endocrine_neoplasia,_type_2', 'Multiple_endocrine_neoplasia_type_2A'] | AAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCCCCCTCTTCTCCCCCTTCCCTCATTTCCAACATAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGT... | AAGTACTGAGTCCAAGCCATGCTGTGACCACACCTGTCATGTAGCAGCTTTCAGGGGCCTGGCTGTGGGGTCCTGCCCAGGGCAGAGACAGGCAGCGTTGCCGCTGGCTCAGATGACAGCCGGTTCTCTGCACATTGGAACTTGTCCATGGGGCCTCCTTTAAGGGTCTTGCCTTCTTCCTCCCCTGTCATCCTCACACTTTTCCCCCCTCTTCTCCCCCTTCCCTCATTTCCAACATAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGT... | pathogenic | 159,738 |
A genetic variant at chromosome 10, position 43120120, affecting gene RET (ret proto-oncogene)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia,_type_2', 'Multiple_endocrine_neoplasia_type_2B'] | CTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGA... | CTTCTAAAGACAATGACTACAGGAACATAATGCCACATACACAGGTGGCCCAGCCCTGGGACACTCTGGGGAAAGATCCGGCATGTGTGGTTGCTGGCTCCTCAGGGTGCTTCTTCCTCAGGGTGGATGAGGCCCCTGTCCACTGATCCCAAAGGCTGGGAGAAGCCTCAAGCAGCATCGTCTTTGCAGGCCTCTCTGTCTGAACTTGGGCAAGGCGATGCAGGTCCATCCTGACCTGGTATGGTCATGGAAGGGGCTTCCAGGAGCGATCGTTTGCAACCTGCTCTGTGCTGCATTTCAGAGAACGCCTCCCCGAGTGA... | pathogenic | 159,817 |
Variant chromosome 10, position 43122020, gene RET: benign or pathogenic? Disease(s)? | benign | AGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGAT... | AGGCCGCTACCCGGGCCACACACCACCCCTCTGCTGGTCACACCAGGCTGAGCCAGTGACCGCTGCTGCCTGGCCATGGCCTGACGACTCGTGCTATTTTTCCTCACAGCTCGTTCATCGGGACTTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGAGGAGCCAGGTGCCCAGTCCCGGGGATGAGGCGGGGCTCCCAGGGATCCCAGGTGCACCATGGGGCAGGCAGTGCCCTTGGGAAGCCTAGGAAAGAT... | benign | 159,852 |
Mutation found at chromosome 10 position 43123732, gene RET (ret proto-oncogene): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hirschsprung_disease', 'Multiple_endocrine_neoplasia,_type_2'] | CAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCA... | CAGGCCTGTGGCATGTGACAAGCTGGCCCTGTGTGCCTGTGGGTGGGCAGCTGACTCCCGCCAGCATCTCAGCAATCCACAGGAGGTTCAGGCTGGAGCTCCAGCCCCTTCAAAGATGTGTGTGGCCAGTTCTGTGCCCAGGAGTGTCTACAGCACTCCTCTGGTTACTGAAAGCTCAGGGATAGGGCCTGGCCTTCTCCTTTACCCCTCCTTCCTAGAGAGTTAGAGTAACTTCAATGTCTTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCA... | pathogenic | 159,865 |
A genetic variant at chromosome 10, position 47349710, affecting gene RBP3 (retinol binding protein 3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic | TTCTGTTCCCTGGAGGCATTAAAGGGACATAGAAATAAATCTCAAGCTCTGAGGCTGATGCCAGCCTCAGACTCAGCCTCTGCACTGTATGGGCCAATTGTAGCCCCAAGGACTTCTTCTTGCTGCACCCCCTATCTGTCCACACCTAAAACGATGGGCTTCTATTAGTTACAGAACTCTCTGGCCTGTTTTGTTTTGCTTTGCTTTGTTTTGTTTTGTTTTTTTGTTTTTTTGTTTTTTAGCTATGAAACAGAGGTAATATCTAATACAGATAACTTACCAGTAATGAGTGCTTCCTACTTACTGGGTACTGGGAAGAA... | TTCTGTTCCCTGGAGGCATTAAAGGGACATAGAAATAAATCTCAAGCTCTGAGGCTGATGCCAGCCTCAGACTCAGCCTCTGCACTGTATGGGCCAATTGTAGCCCCAAGGACTTCTTCTTGCTGCACCCCCTATCTGTCCACACCTAAAACGATGGGCTTCTATTAGTTACAGAACTCTCTGGCCTGTTTTGTTTTGCTTTGCTTTGTTTTGTTTTGTTTTTTTGTTTTTTTGTTTTTTAGCTATGAAACAGAGGTAATATCTAATACAGATAACTTACCAGTAATGAGTGCTTCCTACTTACTGGGTACTGGGAAGAA... | pathogenic | 160,072 |
Evaluate the clinical significance of the mutation at chromosome 10, position 47350165 in gene RBP3 (retinol binding protein 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Retinitis_pigmentosa_66'] | TGGTGGAAACTGTCAGCTTGTAAAGGATGGAGCACAGTGTCTGGCATGTAGCAGGAACTAAAATAATGGCAGTGATTAATGTTATGATATGCAGACACAACACAGCAAGATAAGATGCAATGTACCTTCTGGGTCAAACCACCCTGGCCACTCCTCCCCGATACCCAGGGTTGATGTGCTTGAATTAGACAGGATTAAAGGCTTACTGGAGCTGGAAGCCTTGCCCCAACTCAGGAGTTTAGCCCCAGACCTTCTGTCCACCAGCTGAGAAGGACAAGGGCGGAAGGCAGCTGCACAGAGCAGGGCCACGGCCTTGCACA... | TGGTGGAAACTGTCAGCTTGTAAAGGATGGAGCACAGTGTCTGGCATGTAGCAGGAACTAAAATAATGGCAGTGATTAATGTTATGATATGCAGACACAACACAGCAAGATAAGATGCAATGTACCTTCTGGGTCAAACCACCCTGGCCACTCCTCCCCGATACCCAGGGTTGATGTGCTTGAATTAGACAGGATTAAAGGCTTACTGGAGCTGGAAGCCTTGCCCCAACTCAGGAGTTTAGCCCCAGACCTTCTGTCCACCAGCTGAGAAGGACAAGGGCGGAAGGCAGCTGCACAGAGCAGGGCCACGGCCTTGCACA... | pathogenic | 160,076 |
Determine if the mutation at chromosome 10, position 49461377 in gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_1', 'Cockayne_syndrome_type_2', 'DE_SANCTIS-CACCHIONE_SYNDROME'] | ATGTGCCAGGGTGGTGAGGTTGACAGGGTGAGACTGAGACTCCACCTAATGAAAAGGGAAAGGAGGAGGGTCTGGTATCTAAATCCTCCCACTGTTAAGAGACCGTTTCCTAAAAAAAAATAAAGAGGGGGCAACCAAGCCATTCCCTTAGTCACCACCACTCAACATGGTGGTGGACAGGAAGGCAGAGTGGAGGCTTCCAGGCAAGGTTTCAGGAAAATCTGTCTCTAGGAGGCCCAGGACCACTTTCAGTACCTGTGGGCTTTTCCTGTTCTTCCTCTCAAATGGACCCTGTACACTGTGGATAAGGAACAATATCA... | ATGTGCCAGGGTGGTGAGGTTGACAGGGTGAGACTGAGACTCCACCTAATGAAAAGGGAAAGGAGGAGGGTCTGGTATCTAAATCCTCCCACTGTTAAGAGACCGTTTCCTAAAAAAAAATAAAGAGGGGGCAACCAAGCCATTCCCTTAGTCACCACCACTCAACATGGTGGTGGACAGGAAGGCAGAGTGGAGGCTTCCAGGCAAGGTTTCAGGAAAATCTGTCTCTAGGAGGCCCAGGACCACTTTCAGTACCTGTGGGCTTTTCCTGTTCTTCCTCTCAAATGGACCCTGTACACTGTGGATAAGGAACAATATCA... | pathogenic | 160,138 |
Determine if the mutation at chromosome 10, position 49461381 in gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Age_related_macular_degeneration_5', 'Cerebrooculofacioskeletal_syndrome_1', 'Cockayne_syndrome', 'Cockayne_syndrome_type_2', 'DE_SANCTIS-CACCHIONE_SYNDROME', 'Lung_cancer', 'Premature_ovarian_failure_11', 'UV-sensitive_syndrome_1'] | GCCAGGGTGGTGAGGTTGACAGGGTGAGACTGAGACTCCACCTAATGAAAAGGGAAAGGAGGAGGGTCTGGTATCTAAATCCTCCCACTGTTAAGAGACCGTTTCCTAAAAAAAAATAAAGAGGGGGCAACCAAGCCATTCCCTTAGTCACCACCACTCAACATGGTGGTGGACAGGAAGGCAGAGTGGAGGCTTCCAGGCAAGGTTTCAGGAAAATCTGTCTCTAGGAGGCCCAGGACCACTTTCAGTACCTGTGGGCTTTTCCTGTTCTTCCTCTCAAATGGACCCTGTACACTGTGGATAAGGAACAATATCATAGC... | GCCAGGGTGGTGAGGTTGACAGGGTGAGACTGAGACTCCACCTAATGAAAAGGGAAAGGAGGAGGGTCTGGTATCTAAATCCTCCCACTGTTAAGAGACCGTTTCCTAAAAAAAAATAAAGAGGGGGCAACCAAGCCATTCCCTTAGTCACCACCACTCAACATGGTGGTGGACAGGAAGGCAGAGTGGAGGCTTCCAGGCAAGGTTTCAGGAAAATCTGTCTCTAGGAGGCCCAGGACCACTTTCAGTACCTGTGGGCTTTTCCTGTTCTTCCTCTCAAATGGACCCTGTACACTGTGGATAAGGAACAATATCATAGC... | pathogenic | 160,139 |
Benign or pathogenic: chromosome 10, position 49461463, gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor) variant? Disease(s) if pathogenic? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_1', 'Cockayne_syndrome_type_2', 'DE_SANCTIS-CACCHIONE_SYNDROME'] | TCCCACTGTTAAGAGACCGTTTCCTAAAAAAAAATAAAGAGGGGGCAACCAAGCCATTCCCTTAGTCACCACCACTCAACATGGTGGTGGACAGGAAGGCAGAGTGGAGGCTTCCAGGCAAGGTTTCAGGAAAATCTGTCTCTAGGAGGCCCAGGACCACTTTCAGTACCTGTGGGCTTTTCCTGTTCTTCCTCTCAAATGGACCCTGTACACTGTGGATAAGGAACAATATCATAGCTATACTTCCTTTTCTTCACTTTTAAGTCTTCTTACTCTTTCCTACCTTACATCTAATGCAACTTGCCTTAAAAAAACACAAA... | TCCCACTGTTAAGAGACCGTTTCCTAAAAAAAAATAAAGAGGGGGCAACCAAGCCATTCCCTTAGTCACCACCACTCAACATGGTGGTGGACAGGAAGGCAGAGTGGAGGCTTCCAGGCAAGGTTTCAGGAAAATCTGTCTCTAGGAGGCCCAGGACCACTTTCAGTACCTGTGGGCTTTTCCTGTTCTTCCTCTCAAATGGACCCTGTACACTGTGGATAAGGAACAATATCATAGCTATACTTCCTTTTCTTCACTTTTAAGTCTTCTTACTCTTTCCTACCTTACATCTAATGCAACTTGCCTTAAAAAAACACAAA... | pathogenic | 160,144 |
Is chromosome 10, position 49470332, gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_1', 'Cockayne_syndrome_type_2', 'DE_SANCTIS-CACCHIONE_SYNDROME'] | CCACCCTGGCCTCCCCTGATGCTCAGCTCTGCCTTTTCAACAGAGGGTCTGCCTGGACTCCCATCTGGGTTCTCCCTCTTTCTGTTACAGCACGAAAATTCTCTCAAGGCAGTAGGGCAGGGCAACTGGAGAGCTCAGTTCATTTGTTTCCCATCTCTCAAGAGATCACTGCCCTTTGGTGTCTGAAAACCATTGCTTCATATGTTTTGTCATTGTTTTCATTGTTTCACATGGAAGGGTAAATGTTAATCTGCCTTTGCTGGAAGCCAAATTCATGGTTTTCACAGACATAGAGACAGGTGTATCTGTGCAATTTGTTG... | CCACCCTGGCCTCCCCTGATGCTCAGCTCTGCCTTTTCAACAGAGGGTCTGCCTGGACTCCCATCTGGGTTCTCCCTCTTTCTGTTACAGCACGAAAATTCTCTCAAGGCAGTAGGGCAGGGCAACTGGAGAGCTCAGTTCATTTGTTTCCCATCTCTCAAGAGATCACTGCCCTTTGGTGTCTGAAAACCATTGCTTCATATGTTTTGTCATTGTTTTCATTGTTTCACATGGAAGGGTAAATGTTAATCTGCCTTTGCTGGAAGCCAAATTCATGGTTTTCACAGACATAGAGACAGGTGTATCTGTGCAATTTGTTG... | pathogenic | 160,152 |
Variant at chromosome 10, position 49470352, gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cerebrooculofacioskeletal_syndrome_1', 'Cockayne_syndrome_type_2', 'DE_SANCTIS-CACCHIONE_SYNDROME'] | GCTCAGCTCTGCCTTTTCAACAGAGGGTCTGCCTGGACTCCCATCTGGGTTCTCCCTCTTTCTGTTACAGCACGAAAATTCTCTCAAGGCAGTAGGGCAGGGCAACTGGAGAGCTCAGTTCATTTGTTTCCCATCTCTCAAGAGATCACTGCCCTTTGGTGTCTGAAAACCATTGCTTCATATGTTTTGTCATTGTTTTCATTGTTTCACATGGAAGGGTAAATGTTAATCTGCCTTTGCTGGAAGCCAAATTCATGGTTTTCACAGACATAGAGACAGGTGTATCTGTGCAATTTGTTGTGCATATATATGCACGTATG... | GCTCAGCTCTGCCTTTTCAACAGAGGGTCTGCCTGGACTCCCATCTGGGTTCTCCCTCTTTCTGTTACAGCACGAAAATTCTCTCAAGGCAGTAGGGCAGGGCAACTGGAGAGCTCAGTTCATTTGTTTCCCATCTCTCAAGAGATCACTGCCCTTTGGTGTCTGAAAACCATTGCTTCATATGTTTTGTCATTGTTTTCATTGTTTCACATGGAAGGGTAAATGTTAATCTGCCTTTGCTGGAAGCCAAATTCATGGTTTTCACAGACATAGAGACAGGTGTATCTGTGCAATTTGTTGTGCATATATATGCACGTATG... | pathogenic | 160,153 |
The genetic variant at chromosome 10, position 49470367, affecting gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_1', 'Cockayne_syndrome_type_2', 'DE_SANCTIS-CACCHIONE_SYNDROME'] | TTCAACAGAGGGTCTGCCTGGACTCCCATCTGGGTTCTCCCTCTTTCTGTTACAGCACGAAAATTCTCTCAAGGCAGTAGGGCAGGGCAACTGGAGAGCTCAGTTCATTTGTTTCCCATCTCTCAAGAGATCACTGCCCTTTGGTGTCTGAAAACCATTGCTTCATATGTTTTGTCATTGTTTTCATTGTTTCACATGGAAGGGTAAATGTTAATCTGCCTTTGCTGGAAGCCAAATTCATGGTTTTCACAGACATAGAGACAGGTGTATCTGTGCAATTTGTTGTGCATATATATGCACGTATGTATGTGTATATGTAT... | TTCAACAGAGGGTCTGCCTGGACTCCCATCTGGGTTCTCCCTCTTTCTGTTACAGCACGAAAATTCTCTCAAGGCAGTAGGGCAGGGCAACTGGAGAGCTCAGTTCATTTGTTTCCCATCTCTCAAGAGATCACTGCCCTTTGGTGTCTGAAAACCATTGCTTCATATGTTTTGTCATTGTTTTCATTGTTTCACATGGAAGGGTAAATGTTAATCTGCCTTTGCTGGAAGCCAAATTCATGGTTTTCACAGACATAGAGACAGGTGTATCTGTGCAATTTGTTGTGCATATATATGCACGTATGTATGTGTATATGTAT... | pathogenic | 160,154 |
The genetic variant at chromosome 10, position 49470423, affecting gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Age_related_macular_degeneration_5', 'Cerebrooculofacioskeletal_syndrome_1', 'Cockayne_syndrome', 'Cockayne_syndrome_type_2', 'DE_SANCTIS-CACCHIONE_SYNDROME', 'Lung_cancer', 'Premature_ovarian_failure_11', 'UV-sensitive_syndrome_1'] | ACGAAAATTCTCTCAAGGCAGTAGGGCAGGGCAACTGGAGAGCTCAGTTCATTTGTTTCCCATCTCTCAAGAGATCACTGCCCTTTGGTGTCTGAAAACCATTGCTTCATATGTTTTGTCATTGTTTTCATTGTTTCACATGGAAGGGTAAATGTTAATCTGCCTTTGCTGGAAGCCAAATTCATGGTTTTCACAGACATAGAGACAGGTGTATCTGTGCAATTTGTTGTGCATATATATGCACGTATGTATGTGTATATGTATGTACACAACAAACACATACACACACATACATACATCTATTTCCTGATACTATTGGC... | ACGAAAATTCTCTCAAGGCAGTAGGGCAGGGCAACTGGAGAGCTCAGTTCATTTGTTTCCCATCTCTCAAGAGATCACTGCCCTTTGGTGTCTGAAAACCATTGCTTCATATGTTTTGTCATTGTTTTCATTGTTTCACATGGAAGGGTAAATGTTAATCTGCCTTTGCTGGAAGCCAAATTCATGGTTTTCACAGACATAGAGACAGGTGTATCTGTGCAATTTGTTGTGCATATATATGCACGTATGTATGTGTATATGTATGTACACAACAAACACATACACACACATACATACATCTATTTCCTGATACTATTGGC... | pathogenic | 160,156 |
Does the variant on chromosome 10 at location 49470547 affecting gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_1', 'Cockayne_syndrome_type_2', 'DE_SANCTIS-CACCHIONE_SYNDROME'] | TTTTCATTGTTTCACATGGAAGGGTAAATGTTAATCTGCCTTTGCTGGAAGCCAAATTCATGGTTTTCACAGACATAGAGACAGGTGTATCTGTGCAATTTGTTGTGCATATATATGCACGTATGTATGTGTATATGTATGTACACAACAAACACATACACACACATACATACATCTATTTCCTGATACTATTGGCTACGAAAGCAATGACATAATAGCAGCAATGAACACTCTGAGAACCCGGATCCTAGTTCCTAAATACCATTCTCCAGGGTTCCTTGAAGAAATGGCTGATTCCAGGGCTGGCACAGAATACAAAT... | TTTTCATTGTTTCACATGGAAGGGTAAATGTTAATCTGCCTTTGCTGGAAGCCAAATTCATGGTTTTCACAGACATAGAGACAGGTGTATCTGTGCAATTTGTTGTGCATATATATGCACGTATGTATGTGTATATGTATGTACACAACAAACACATACACACACATACATACATCTATTTCCTGATACTATTGGCTACGAAAGCAATGACATAATAGCAGCAATGAACACTCTGAGAACCCGGATCCTAGTTCCTAAATACCATTCTCCAGGGTTCCTTGAAGAAATGGCTGATTCCAGGGCTGGCACAGAATACAAAT... | pathogenic | 160,161 |
A genetic alteration at chromosome 10, position 49471091, in gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cockayne_syndrome', 'ERCC6-related_disorder', 'Inborn_genetic_diseases'] | GAGAAGGAAAACCTTCCTTACAATAGAATGTTAATCACCATTTGGCAACCATTGTAGTAATAACTGACTGAGGAAAGAATCATCAATAGATATTAAAACTAGTGGATAAAAGTTTGATGAGAAACAGGATATTTACACAGTCTCAAAGCATATTCCTTGAAAGCACAAATTAATTACAAAGGTAAAAATATTAACCTTAGCATTGAGAAACCTGGCAGACTCCACCTTAACCAAGTGATCTTAAAAATCAACTTGTAATAGGTCAAACCAGCATGTGTCTCCTGATAGATGCACTGAGTAAGATACGGTATCACCTCTGT... | GAGAAGGAAAACCTTCCTTACAATAGAATGTTAATCACCATTTGGCAACCATTGTAGTAATAACTGACTGAGGAAAGAATCATCAATAGATATTAAAACTAGTGGATAAAAGTTTGATGAGAAACAGGATATTTACACAGTCTCAAAGCATATTCCTTGAAAGCACAAATTAATTACAAAGGTAAAAATATTAACCTTAGCATTGAGAAACCTGGCAGACTCCACCTTAACCAAGTGATCTTAAAAATCAACTTGTAATAGGTCAAACCAGCATGTGTCTCCTGATAGATGCACTGAGTAAGATACGGTATCACCTCTGT... | pathogenic | 160,169 |
Assess the variant on chromosome 10, position 49472935, impacting ERCC6: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Age_related_macular_degeneration_5', 'Cerebrooculofacioskeletal_syndrome_1', 'Cockayne_syndrome_type_2', 'DE_SANCTIS-CACCHIONE_SYNDROME', 'Lung_cancer', 'Premature_ovarian_failure_11', 'UV-sensitive_syndrome_1'] | TTCCTGTAAAGAGGAAAAACACCACTAATACTATATTGTATCATCTTGTGCAATTGATTACTTTAAATTAAATGATTTTATGTAATACCTGCAAAAATTGCACTTGTTTCAGTGCTCTGGGATGCATCAGGACTAGTCAGAGTAAATAGCTCATAGAGATCATTGGATTTGAAAAACCGCCTTTGTTTTGGGTCTTTTAGCACTCTATTTGTCAAAAACTGCTTGAAGATTTGTCTAAAAAAATAAAAGATAAGCTGGTATAAAACAATGTGTAGCTCTACCTAAAAATTCAAGTTATAAAGCAATATAAGAGAGAGATG... | TTCCTGTAAAGAGGAAAAACACCACTAATACTATATTGTATCATCTTGTGCAATTGATTACTTTAAATTAAATGATTTTATGTAATACCTGCAAAAATTGCACTTGTTTCAGTGCTCTGGGATGCATCAGGACTAGTCAGAGTAAATAGCTCATAGAGATCATTGGATTTGAAAAACCGCCTTTGTTTTGGGTCTTTTAGCACTCTATTTGTCAAAAACTGCTTGAAGATTTGTCTAAAAAAATAAAAGATAAGCTGGTATAAAACAATGTGTAGCTCTACCTAAAAATTCAAGTTATAAAGCAATATAAGAGAGAGATG... | pathogenic | 160,176 |
Does the variant on chromosome 10 at location 49482759 affecting gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cerebrooculofacioskeletal_syndrome_1', 'Cockayne_syndrome_type_2', 'DE_SANCTIS-CACCHIONE_SYNDROME'] | CCATAGTGGAACAAACAGACAGCATGTTCCTCCAGATACCATGCACTGAGGAAGACACATCACTTCTGTGATATTCCTAGCCAAAATGTATAACCTGAATCCAATCATGAAGAAATGTAAGGCAAACCCAAACTGAGGTACATTCTACAAACTAACAGGCCTATAGTCTTTAAAAATGTCAAGGTAATGAAGGGCAAAGAAACAGTCCCAGATTAAAGGAGACTAGAGACACGGAAACTACTGGAACTGACAAAATATGAGTGATTATAGACTAGATAACAGACTCCTATTAATGTTAAACTTCGTTCTGATTTTGTTGC... | CCATAGTGGAACAAACAGACAGCATGTTCCTCCAGATACCATGCACTGAGGAAGACACATCACTTCTGTGATATTCCTAGCCAAAATGTATAACCTGAATCCAATCATGAAGAAATGTAAGGCAAACCCAAACTGAGGTACATTCTACAAACTAACAGGCCTATAGTCTTTAAAAATGTCAAGGTAATGAAGGGCAAAGAAACAGTCCCAGATTAAAGGAGACTAGAGACACGGAAACTACTGGAACTGACAAAATATGAGTGATTATAGACTAGATAACAGACTCCTATTAATGTTAAACTTCGTTCTGATTTTGTTGC... | pathogenic | 160,198 |
Does the genetic variant at chromosome 10, position 49482762, impacting gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Age_related_macular_degeneration_5', 'Cerebrooculofacioskeletal_syndrome_1', 'Cockayne_syndrome_type_2', 'DE_SANCTIS-CACCHIONE_SYNDROME', 'ERCC6-related_disorder', 'Lung_cancer', 'Premature_ovarian_failure_11', 'UV-sensitive_syndrome_1'] | TAGTGGAACAAACAGACAGCATGTTCCTCCAGATACCATGCACTGAGGAAGACACATCACTTCTGTGATATTCCTAGCCAAAATGTATAACCTGAATCCAATCATGAAGAAATGTAAGGCAAACCCAAACTGAGGTACATTCTACAAACTAACAGGCCTATAGTCTTTAAAAATGTCAAGGTAATGAAGGGCAAAGAAACAGTCCCAGATTAAAGGAGACTAGAGACACGGAAACTACTGGAACTGACAAAATATGAGTGATTATAGACTAGATAACAGACTCCTATTAATGTTAAACTTCGTTCTGATTTTGTTGCTTA... | TAGTGGAACAAACAGACAGCATGTTCCTCCAGATACCATGCACTGAGGAAGACACATCACTTCTGTGATATTCCTAGCCAAAATGTATAACCTGAATCCAATCATGAAGAAATGTAAGGCAAACCCAAACTGAGGTACATTCTACAAACTAACAGGCCTATAGTCTTTAAAAATGTCAAGGTAATGAAGGGCAAAGAAACAGTCCCAGATTAAAGGAGACTAGAGACACGGAAACTACTGGAACTGACAAAATATGAGTGATTATAGACTAGATAACAGACTCCTATTAATGTTAAACTTCGTTCTGATTTTGTTGCTTA... | pathogenic | 160,199 |
Does the genetic variant at chromosome 10, position 49483363, impacting gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Age_related_macular_degeneration_5', 'Cerebrooculofacioskeletal_syndrome_1', 'Cockayne_syndrome_type_2', 'DE_SANCTIS-CACCHIONE_SYNDROME', 'Lung_cancer', 'Premature_ovarian_failure_11', 'UV-sensitive_syndrome_1'] | TGAAATTATTTCAAAATAAATTTTTTTAAAAAAAAGAATGGTATAACAGGAGATTCAGAGAAAGAAGAGACTCCTTACAAAAGTTAACTGAAAATCATTCAATCTCAAAATGTAAAATATATTAAAATTGTTTTTGACAATCTTTTAATCTTAAAGGTCTAAAATTCTTTTTCTAATTAAATACTCCAAAATACGAGAGCTTCCCTTTTGGTGGAAGGTCTCATCCCTGGCTCAGCCATGACCTGGTAGGCACAGGCCCACCCAAGAAGGGATGCACAGAAACCGTGCCTCCCACCCAGGCTGCAGCCTGCCATACAGGC... | TGAAATTATTTCAAAATAAATTTTTTTAAAAAAAAGAATGGTATAACAGGAGATTCAGAGAAAGAAGAGACTCCTTACAAAAGTTAACTGAAAATCATTCAATCTCAAAATGTAAAATATATTAAAATTGTTTTTGACAATCTTTTAATCTTAAAGGTCTAAAATTCTTTTTCTAATTAAATACTCCAAAATACGAGAGCTTCCCTTTTGGTGGAAGGTCTCATCCCTGGCTCAGCCATGACCTGGTAGGCACAGGCCCACCCAAGAAGGGATGCACAGAAACCGTGCCTCCCACCCAGGCTGCAGCCTGCCATACAGGC... | pathogenic | 160,208 |
Considering the genetic mutation at chromosome 10, position 49483468, impacting ERCC6 (ERCC excision repair 6, chromatin remodeling factor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['DE_SANCTIS-CACCHIONE_SYNDROME'] | CAAAATGTAAAATATATTAAAATTGTTTTTGACAATCTTTTAATCTTAAAGGTCTAAAATTCTTTTTCTAATTAAATACTCCAAAATACGAGAGCTTCCCTTTTGGTGGAAGGTCTCATCCCTGGCTCAGCCATGACCTGGTAGGCACAGGCCCACCCAAGAAGGGATGCACAGAAACCGTGCCTCCCACCCAGGCTGCAGCCTGCCATACAGGCCACAAACCACCCTATGGCTAACTTCACCTCCTGGCATTTCTGCCTGTGACCACCCCATTCCATCAGGCACCCGGGCCTGAAACCTCAGGAGTCAGTCAGTCATTC... | CAAAATGTAAAATATATTAAAATTGTTTTTGACAATCTTTTAATCTTAAAGGTCTAAAATTCTTTTTCTAATTAAATACTCCAAAATACGAGAGCTTCCCTTTTGGTGGAAGGTCTCATCCCTGGCTCAGCCATGACCTGGTAGGCACAGGCCCACCCAAGAAGGGATGCACAGAAACCGTGCCTCCCACCCAGGCTGCAGCCTGCCATACAGGCCACAAACCACCCTATGGCTAACTTCACCTCCTGGCATTTCTGCCTGTGACCACCCCATTCCATCAGGCACCCGGGCCTGAAACCTCAGGAGTCAGTCAGTCATTC... | pathogenic | 160,211 |
A genetic variant at chromosome 10, position 49493217, affecting gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Age_related_macular_degeneration_5', 'Cerebrooculofacioskeletal_syndrome_1', 'Cockayne_syndrome_type_2', 'DE_SANCTIS-CACCHIONE_SYNDROME', 'Lung_cancer', 'Premature_ovarian_failure_11', 'UV-sensitive_syndrome_1'] | ATACATTTCCAATGTGTCGTCACCACAAATAAGCCAATATTAACATTAATGAAAAGTAATAAATATAGGGCTTCTAAGTTAAGAATATAGTTTGATACATATAAAAGTACATATTTTTGATCTTTTGCCTAACAGTTTACATCTTTAGTGATCTAAGATACTTTATAATGGAAAAGGAACAGTAGGAAGAGTTAAGAGTTTGAGTAAAAACACAAGGAAACTGTAATGCTGTTTTTCCTCAAAAGTTAATTAAGAATCTTCAAGTTAGAGTCCTTGGTAAACTGTAAAACACTGAAAAAATTATTAACAACCATATGTAT... | ATACATTTCCAATGTGTCGTCACCACAAATAAGCCAATATTAACATTAATGAAAAGTAATAAATATAGGGCTTCTAAGTTAAGAATATAGTTTGATACATATAAAAGTACATATTTTTGATCTTTTGCCTAACAGTTTACATCTTTAGTGATCTAAGATACTTTATAATGGAAAAGGAACAGTAGGAAGAGTTAAGAGTTTGAGTAAAAACACAAGGAAACTGTAATGCTGTTTTTCCTCAAAAGTTAATTAAGAATCTTCAAGTTAGAGTCCTTGGTAAACTGTAAAACACTGAAAAAATTATTAACAACCATATGTAT... | pathogenic | 160,218 |
Is the chromosome 10, position 49505891 variant in ERCC6 (ERCC excision repair 6, chromatin remodeling factor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Age_related_macular_degeneration_5', 'Cerebrooculofacioskeletal_syndrome_1', 'Cockayne_syndrome_type_2', 'DE_SANCTIS-CACCHIONE_SYNDROME', 'Lung_cancer', 'Premature_ovarian_failure_11', 'UV-sensitive_syndrome_1'] | CTGAGGCATCACAATGTGACCACAAATAATTGGTGTACATTGGCATTGCCACACTAACCCAAGATTGCATTTACTAGTGTGGCTGAAAATAAGGTCAAAAGATTGAAGTTTGTCATTTGACTGCTAAATTAGATAGACAAATATACTTGCTGGGCAAACTTTCAAAACAGAAATTTAAAAGTTAAACACTATCTTGCAGAAAATGTACTTAAATGGCTAATTGTACCTTCTGACTCCCTTGTGTACAACTCTATACCCTGTCAATTCAATTCCACAGAATGCAGCAAATACAGTAAAAAAATATATCTACAGTTTAAAAT... | CTGAGGCATCACAATGTGACCACAAATAATTGGTGTACATTGGCATTGCCACACTAACCCAAGATTGCATTTACTAGTGTGGCTGAAAATAAGGTCAAAAGATTGAAGTTTGTCATTTGACTGCTAAATTAGATAGACAAATATACTTGCTGGGCAAACTTTCAAAACAGAAATTTAAAAGTTAAACACTATCTTGCAGAAAATGTACTTAAATGGCTAATTGTACCTTCTGACTCCCTTGTGTACAACTCTATACCCTGTCAATTCAATTCCACAGAATGCAGCAAATACAGTAAAAAAATATATCTACAGTTTAAAAT... | pathogenic | 160,221 |
Regarding the variant at chromosome 10 and position 49505977, affecting gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic | AAATAAGGTCAAAAGATTGAAGTTTGTCATTTGACTGCTAAATTAGATAGACAAATATACTTGCTGGGCAAACTTTCAAAACAGAAATTTAAAAGTTAAACACTATCTTGCAGAAAATGTACTTAAATGGCTAATTGTACCTTCTGACTCCCTTGTGTACAACTCTATACCCTGTCAATTCAATTCCACAGAATGCAGCAAATACAGTAAAAAAATATATCTACAGTTTAAAATTAAATTGGCCCCGCTAAAACGCAATCATAAAAGAAAAATGGAGACTCTATCAATCCTATTAATTTTTTTCATACAGCAAAAGAAAA... | AAATAAGGTCAAAAGATTGAAGTTTGTCATTTGACTGCTAAATTAGATAGACAAATATACTTGCTGGGCAAACTTTCAAAACAGAAATTTAAAAGTTAAACACTATCTTGCAGAAAATGTACTTAAATGGCTAATTGTACCTTCTGACTCCCTTGTGTACAACTCTATACCCTGTCAATTCAATTCCACAGAATGCAGCAAATACAGTAAAAAAATATATCTACAGTTTAAAATTAAATTGGCCCCGCTAAAACGCAATCATAAAAGAAAAATGGAGACTCTATCAATCCTATTAATTTTTTTCATACAGCAAAAGAAAA... | pathogenic | 160,222 |
Evaluate this variant at chromosome 10, position 49524149, gene ERCC6: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cockayne_syndrome_type_2'] | AAAAAAAACTAATTTTCTATGTTGTAAACTCTATGACTTTATTCTAATCATCCATCGTCAAACCACTGCTAAGACAAGCAACCCTAAAGGTCTTTCTGTTTCTCAAGGGAATAGCATTACCATTTCAATTAGTCTACAAAGATCAGCAATGAGTAACAAAATATAGAGAGACTGGCAGTTCTAATATGCTTCTCAATCCTGAGCATTTTATTTTCTTTCATCCCCCAAACCAAACAGCACCAAAGGAGATGTAATAACAAATATTTCAATGTGGATATCTGCAGTTTAACAGCCTTAATAACTGTAGCTATAAAATGTTA... | AAAAAAAACTAATTTTCTATGTTGTAAACTCTATGACTTTATTCTAATCATCCATCGTCAAACCACTGCTAAGACAAGCAACCCTAAAGGTCTTTCTGTTTCTCAAGGGAATAGCATTACCATTTCAATTAGTCTACAAAGATCAGCAATGAGTAACAAAATATAGAGAGACTGGCAGTTCTAATATGCTTCTCAATCCTGAGCATTTTATTTTCTTTCATCCCCCAAACCAAACAGCACCAAAGGAGATGTAATAACAAATATTTCAATGTGGATATCTGCAGTTTAACAGCCTTAATAACTGTAGCTATAAAATGTTA... | pathogenic | 160,232 |
A mutation at chromosome position 49524389 on chromosome 10 in gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cockayne_syndrome_type_2'] | CAAAGGAGATGTAATAACAAATATTTCAATGTGGATATCTGCAGTTTAACAGCCTTAATAACTGTAGCTATAAAATGTTAAGAGCTATCGTATTTTGGTGGCAATTAAGAGTTATTGATATTTCTGAAATTCATTTGAGATTTCACTGTAGCTTTAGCAAAATATTGGCTCTGGAAATAATAAATTGTTTTACAATCTTAACATTATTAAGAAAAACTTATTGCCATCAAATTAACTAAACCCACATTTAAAATTCAATCAAAATAAATTGCTCTTGATCAAAATACTGATATATTTTAAACATATTTAATATTGACCCA... | CAAAGGAGATGTAATAACAAATATTTCAATGTGGATATCTGCAGTTTAACAGCCTTAATAACTGTAGCTATAAAATGTTAAGAGCTATCGTATTTTGGTGGCAATTAAGAGTTATTGATATTTCTGAAATTCATTTGAGATTTCACTGTAGCTTTAGCAAAATATTGGCTCTGGAAATAATAAATTGTTTTACAATCTTAACATTATTAAGAAAAACTTATTGCCATCAAATTAACTAAACCCACATTTAAAATTCAATCAAAATAAATTGCTCTTGATCAAAATACTGATATATTTTAAACATATTTAATATTGACCCA... | pathogenic | 160,237 |
The chromosome 10, position 49524395 genetic variant in gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cockayne_syndrome_type_2'] | AGATGTAATAACAAATATTTCAATGTGGATATCTGCAGTTTAACAGCCTTAATAACTGTAGCTATAAAATGTTAAGAGCTATCGTATTTTGGTGGCAATTAAGAGTTATTGATATTTCTGAAATTCATTTGAGATTTCACTGTAGCTTTAGCAAAATATTGGCTCTGGAAATAATAAATTGTTTTACAATCTTAACATTATTAAGAAAAACTTATTGCCATCAAATTAACTAAACCCACATTTAAAATTCAATCAAAATAAATTGCTCTTGATCAAAATACTGATATATTTTAAACATATTTAATATTGACCCAATTTAA... | AGATGTAATAACAAATATTTCAATGTGGATATCTGCAGTTTAACAGCCTTAATAACTGTAGCTATAAAATGTTAAGAGCTATCGTATTTTGGTGGCAATTAAGAGTTATTGATATTTCTGAAATTCATTTGAGATTTCACTGTAGCTTTAGCAAAATATTGGCTCTGGAAATAATAAATTGTTTTACAATCTTAACATTATTAAGAAAAACTTATTGCCATCAAATTAACTAAACCCACATTTAAAATTCAATCAAAATAAATTGCTCTTGATCAAAATACTGATATATTTTAAACATATTTAATATTGACCCAATTTAA... | pathogenic | 160,238 |
Determine whether the variant at chromosome 10, position 49524649, in gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cerebrooculofacioskeletal_syndrome_1', 'Cockayne_syndrome_type_2', 'DE_SANCTIS-CACCHIONE_SYNDROME'] | AAAATAAATTGCTCTTGATCAAAATACTGATATATTTTAAACATATTTAATATTGACCCAATTTAATTGGAAAAATATATATTGCTCCATTTATAATCAATATGTTGAGATTAACACTTTTATTAATTCCTTGCAGTAGTTAAGAAAAAGTCTGACACCGCTCACTGTTCAAGAGTACTGGGCAACATTCCTCAAACAACTTCACAGGTAATAAACGTGCACAGAAACGAAAGCTGTGCTGAGGGATGACAAATATAAGCCAGCCCTCATCTGTGCATTACTACATAAGGTGCTACTAGAATGTGAGTGCCGCAACTCTA... | AAAATAAATTGCTCTTGATCAAAATACTGATATATTTTAAACATATTTAATATTGACCCAATTTAATTGGAAAAATATATATTGCTCCATTTATAATCAATATGTTGAGATTAACACTTTTATTAATTCCTTGCAGTAGTTAAGAAAAAGTCTGACACCGCTCACTGTTCAAGAGTACTGGGCAACATTCCTCAAACAACTTCACAGGTAATAAACGTGCACAGAAACGAAAGCTGTGCTGAGGGATGACAAATATAAGCCAGCCCTCATCTGTGCATTACTACATAAGGTGCTACTAGAATGTGAGTGCCGCAACTCTA... | pathogenic | 160,242 |
Regarding the variant at chromosome 10 and position 49530823, affecting gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cockayne_syndrome_type_2'] | GGCAGACTGCCTTCTATGTGCCCGAGCCCTTAAATACATGGGCACTGACCTGAAAGGTGGACTTGTTCTACTTGGTTTCCCCCTTACACACTGGGCAAATCCCTAAACTACTCTGTATTTCTGATTCAGAACCAATGGGCTATGGAAGTCAACAGGCCATAAGATAAGAAATAAAAACACAAATGTTCAATTGAAAAAGTTAGTCTCCTTTGATAACCTACTATATTTATGACTGTCCTTTTAGTATTCTACCTAATCAAAAAGCTTTAAGAAAAAAATATATCTTGCCATGCCTCTCCACCCTGGCCACGCCAGACTCC... | GGCAGACTGCCTTCTATGTGCCCGAGCCCTTAAATACATGGGCACTGACCTGAAAGGTGGACTTGTTCTACTTGGTTTCCCCCTTACACACTGGGCAAATCCCTAAACTACTCTGTATTTCTGATTCAGAACCAATGGGCTATGGAAGTCAACAGGCCATAAGATAAGAAATAAAAACACAAATGTTCAATTGAAAAAGTTAGTCTCCTTTGATAACCTACTATATTTATGACTGTCCTTTTAGTATTCTACCTAATCAAAAAGCTTTAAGAAAAAAATATATCTTGCCATGCCTCTCCACCCTGGCCACGCCAGACTCC... | pathogenic | 160,254 |
Variant in gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor), located at chromosome 10 position 49532757: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Age_related_macular_degeneration_5', 'Cerebrooculofacioskeletal_syndrome_1', 'Cockayne_syndrome_type_2', 'DE_SANCTIS-CACCHIONE_SYNDROME', 'Lung_cancer', 'Premature_ovarian_failure_11', 'UV-sensitive_syndrome_1'] | TTCTGAATCACCTTATTATACTTCTGTCGTTTTACAGAATCTAGTTTCCTGTTGATGTCTCTGCTGGTGGCAGCTTGAGGGCTAAGCTGTTCAATAATTTTATTGATTTGCCTTAGGGATGTCGTACATGACCTGAAAAATAAGATAAATTGTCTATTTTGCACTCTGATAACATTTTTATAGCATAATATAAAGAGAAAAATGCTAAAAACATGTCCCTTTTACTTCTTATTAACTAAAAGATAAAGGAAACTAAACCAGAATACATACCCTTATTGGCCACAAATAAAACTTGTAGGATCATTAGAGGTTTAAGATGA... | TTCTGAATCACCTTATTATACTTCTGTCGTTTTACAGAATCTAGTTTCCTGTTGATGTCTCTGCTGGTGGCAGCTTGAGGGCTAAGCTGTTCAATAATTTTATTGATTTGCCTTAGGGATGTCGTACATGACCTGAAAAATAAGATAAATTGTCTATTTTGCACTCTGATAACATTTTTATAGCATAATATAAAGAGAAAAATGCTAAAAACATGTCCCTTTTACTTCTTATTAACTAAAAGATAAAGGAAACTAAACCAGAATACATACCCTTATTGGCCACAAATAAAACTTGTAGGATCATTAGAGGTTTAAGATGA... | pathogenic | 160,262 |
Variant in ERCC6 (ERCC excision repair 6, chromatin remodeling factor), chromosome 10, position 49532914—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cockayne_syndrome'] | TTTGCACTCTGATAACATTTTTATAGCATAATATAAAGAGAAAAATGCTAAAAACATGTCCCTTTTACTTCTTATTAACTAAAAGATAAAGGAAACTAAACCAGAATACATACCCTTATTGGCCACAAATAAAACTTGTAGGATCATTAGAGGTTTAAGATGACTGCTAGTGTTTTCTTTTATCTAGCTGATTTAGATCAGCTCATTCCCATTTGTAAGCTGCTTCAGTCATTCTACAAGCATTATTTAAGTGCCTACTTTATTCAACACACTATGCTAGAACAATGTGCAATAAGTTGTCCTTTTACATGAAAAAATGC... | TTTGCACTCTGATAACATTTTTATAGCATAATATAAAGAGAAAAATGCTAAAAACATGTCCCTTTTACTTCTTATTAACTAAAAGATAAAGGAAACTAAACCAGAATACATACCCTTATTGGCCACAAATAAAACTTGTAGGATCATTAGAGGTTTAAGATGACTGCTAGTGTTTTCTTTTATCTAGCTGATTTAGATCAGCTCATTCCCATTTGTAAGCTGCTTCAGTCATTCTACAAGCATTATTTAAGTGCCTACTTTATTCAACACACTATGCTAGAACAATGTGCAATAAGTTGTCCTTTTACATGAAAAAATGC... | pathogenic | 160,265 |
Variant chromosome 10, position 49532916, gene ERCC6 (ERCC excision repair 6, chromatin remodeling factor): benign or pathogenic? Disease(s)? | pathogenic; ['Cockayne_syndrome'] | TGCACTCTGATAACATTTTTATAGCATAATATAAAGAGAAAAATGCTAAAAACATGTCCCTTTTACTTCTTATTAACTAAAAGATAAAGGAAACTAAACCAGAATACATACCCTTATTGGCCACAAATAAAACTTGTAGGATCATTAGAGGTTTAAGATGACTGCTAGTGTTTTCTTTTATCTAGCTGATTTAGATCAGCTCATTCCCATTTGTAAGCTGCTTCAGTCATTCTACAAGCATTATTTAAGTGCCTACTTTATTCAACACACTATGCTAGAACAATGTGCAATAAGTTGTCCTTTTACATGAAAAAATGCAT... | TGCACTCTGATAACATTTTTATAGCATAATATAAAGAGAAAAATGCTAAAAACATGTCCCTTTTACTTCTTATTAACTAAAAGATAAAGGAAACTAAACCAGAATACATACCCTTATTGGCCACAAATAAAACTTGTAGGATCATTAGAGGTTTAAGATGACTGCTAGTGTTTTCTTTTATCTAGCTGATTTAGATCAGCTCATTCCCATTTGTAAGCTGCTTCAGTCATTCTACAAGCATTATTTAAGTGCCTACTTTATTCAACACACTATGCTAGAACAATGTGCAATAAGTTGTCCTTTTACATGAAAAAATGCAT... | pathogenic | 160,266 |
Chromosome 10, position 49619745, gene CHAT (choline O-acetyltransferase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_infantile_myasthenia'] | TGGGCTTTCTGTAGGTGCTCACCCACCCATCACACAGACCACCCCCCCCACCGCAAGAGATGGAAGAACAAGATCAGCTGGGTTGGGGGCCCAGACCTGGCTCACTGGGGTTGGGCAGGGCAGTCTGGGATGCTGTCCAGATCCATCCTCGCATCATTCCCCAGGGCAGGAGCAGCCCGTAGTTGGCACTGACACCCCACTGTTGCCAGAGAAGTGAACCCTAGAGGCAGGATCAGACAGGCAGAGGGCCGTCATTCATCCATCAGCAGCAGGGGCAGAGAAGGAGGTGCTTTTAAGGGGCCCATTCACTCTGCAGCCTA... | TGGGCTTTCTGTAGGTGCTCACCCACCCATCACACAGACCACCCCCCCCACCGCAAGAGATGGAAGAACAAGATCAGCTGGGTTGGGGGCCCAGACCTGGCTCACTGGGGTTGGGCAGGGCAGTCTGGGATGCTGTCCAGATCCATCCTCGCATCATTCCCCAGGGCAGGAGCAGCCCGTAGTTGGCACTGACACCCCACTGTTGCCAGAGAAGTGAACCCTAGAGGCAGGATCAGACAGGCAGAGGGCCGTCATTCATCCATCAGCAGCAGGGGCAGAGAAGGAGGTGCTTTTAAGGGGCCCATTCACTCTGCAGCCTA... | pathogenic | 160,297 |
The mutation in gene CHAT (choline O-acetyltransferase) at chromosome 10, position 49620583—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_infantile_myasthenia'] | AGAAAGAAGCAGAGTGGACATGGAAGACTGATTTTAGCTCCTAGTCTGCCATCAGATTTGTATGTGACCTTGGACCAGCTGCTCCACTCTCTGGGACTCAGTTTCCTCATTCATAAATGGGAAGTCACAAAATTGAAGCCACACAGAAGCCTTCTGTGGTGAACGCTGCTGGTGAACTGAGAGGCACAGCATGCGTATAGAAGGGTGGAGTTGGGGGTTCTTCCTAGACTCTAGCCACACTTTGGGGCCCCCAAAGAATATGGGTTTCCTCTTGGGAATTCCTCTGGAAGTATAAGATAGCGAGGTCATAACATTTTAGA... | AGAAAGAAGCAGAGTGGACATGGAAGACTGATTTTAGCTCCTAGTCTGCCATCAGATTTGTATGTGACCTTGGACCAGCTGCTCCACTCTCTGGGACTCAGTTTCCTCATTCATAAATGGGAAGTCACAAAATTGAAGCCACACAGAAGCCTTCTGTGGTGAACGCTGCTGGTGAACTGAGAGGCACAGCATGCGTATAGAAGGGTGGAGTTGGGGGTTCTTCCTAGACTCTAGCCACACTTTGGGGCCCCCAAAGAATATGGGTTTCCTCTTGGGAATTCCTCTGGAAGTATAAGATAGCGAGGTCATAACATTTTAGA... | pathogenic | 160,310 |
Is chromosome 10, position 49627651, gene CHAT (choline O-acetyltransferase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Congenital_myasthenic_syndrome_4C', 'Familial_infantile_myasthenia'] | AGCAGCATCATGCCGGAGCCTGAGCACGTCATCGTAGCCTGCTGCAATCAGGTAAGCAACCCCTTGTCTTGGTGAGGGAGGGCACAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCT... | AGCAGCATCATGCCGGAGCCTGAGCACGTCATCGTAGCCTGCTGCAATCAGGTAAGCAACCCCTTGTCTTGGTGAGGGAGGGCACAGAGCATACAGTGGCCATGCGTTCACGTCCATTACCTTCTCCGAGGGGGCTCAGCCTCCTTCCCTGAGTCACACAGGGAGCTGGGGCACCATGTCTCCAAAGTGGGGCCCCTACTTCCAGTCAGTCCCATGTCTCTCCACCAGTTGCCTTCTAAGAATGAGAGCCGTCAGTTTGAGAATATCCTCACTGGACTCTCACTTCAGCACTGATGCACTGAGGGTCATGATCGAGACCT... | pathogenic | 160,324 |
Benign or pathogenic: chromosome 10, position 49648581, gene CHAT (choline O-acetyltransferase) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_infantile_myasthenia'] | GATTGAGCGCTGCATCTGCCTTGTATGCCTGGACGCGCCAGGAGGCGTGGAGCTCAGCGACACCCACAGGGCACTCCAGCTCCTTCACGGCGGAGGCTACAGCAAGAACGGGGCCAATCGCTGGTACGACAAGTCCCTGCAGGTAAGCCGTCCAGGTGGCCCTGCAAGAGCACAGCCATGCCCCCAGCGAGAGAGTGAGTAGGCAAGCGGGCACAGCCTGGTGCCCAGGCCCGCACGTGCTTGTGTCTGGCAGGCGCACTCACTGGTTTCTGCTGCCTAAGAGGCTGGGTCTGAGGGGTCAGGAGAGCTGGAGGGGTCTG... | GATTGAGCGCTGCATCTGCCTTGTATGCCTGGACGCGCCAGGAGGCGTGGAGCTCAGCGACACCCACAGGGCACTCCAGCTCCTTCACGGCGGAGGCTACAGCAAGAACGGGGCCAATCGCTGGTACGACAAGTCCCTGCAGGTAAGCCGTCCAGGTGGCCCTGCAAGAGCACAGCCATGCCCCCAGCGAGAGAGTGAGTAGGCAAGCGGGCACAGCCTGGTGCCCAGGCCCGCACGTGCTTGTGTCTGGCAGGCGCACTCACTGGTTTCTGCTGCCTAAGAGGCTGGGTCTGAGGGGTCAGGAGAGCTGGAGGGGTCTG... | pathogenic | 160,343 |
Variant at chromosome 10, position 49649560, gene CHAT (choline O-acetyltransferase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_infantile_myasthenia'] | TCGTTTTCCTTTCTCTCTGTCCCTACATTCTGCAGGTTTTCCTTTTTATTGGTTTGCATATTGATTCTGTTATTTCTGATGCGCTCTCCAGCTGCTGGGCCAGCTGTTTTAGCCTCTACAGTGGTGCTAATGGCTTATCATCTTTCATGGAGCTGTGGGGGTGAACCGATATAATACATGCACAGAATCTGGAACTCAGCCTTGGTAGCAGTTTTCAAAAGACACCGCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTTAGTGACAGGCACAGATAAG... | TCGTTTTCCTTTCTCTCTGTCCCTACATTCTGCAGGTTTTCCTTTTTATTGGTTTGCATATTGATTCTGTTATTTCTGATGCGCTCTCCAGCTGCTGGGCCAGCTGTTTTAGCCTCTACAGTGGTGCTAATGGCTTATCATCTTTCATGGAGCTGTGGGGGTGAACCGATATAATACATGCACAGAATCTGGAACTCAGCCTTGGTAGCAGTTTTCAAAAGACACCGCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTTAGTGACAGGCACAGATAAG... | pathogenic | 160,349 |
The chromosome 10, position 49649593 genetic variant in gene CHAT (choline O-acetyltransferase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Congenital_myasthenic_syndrome', 'Familial_infantile_myasthenia'] | AGGTTTTCCTTTTTATTGGTTTGCATATTGATTCTGTTATTTCTGATGCGCTCTCCAGCTGCTGGGCCAGCTGTTTTAGCCTCTACAGTGGTGCTAATGGCTTATCATCTTTCATGGAGCTGTGGGGGTGAACCGATATAATACATGCACAGAATCTGGAACTCAGCCTTGGTAGCAGTTTTCAAAAGACACCGCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTTAGTGACAGGCACAGATAAGTACTAATGTGGGGGGTGGGTGCAGCCCTCTCCA... | AGGTTTTCCTTTTTATTGGTTTGCATATTGATTCTGTTATTTCTGATGCGCTCTCCAGCTGCTGGGCCAGCTGTTTTAGCCTCTACAGTGGTGCTAATGGCTTATCATCTTTCATGGAGCTGTGGGGGTGAACCGATATAATACATGCACAGAATCTGGAACTCAGCCTTGGTAGCAGTTTTCAAAAGACACCGCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTTAGTGACAGGCACAGATAAGTACTAATGTGGGGGGTGGGTGCAGCCCTCTCCA... | pathogenic | 160,351 |
Chromosome 10, position 49655233, gene CHAT (choline O-acetyltransferase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_infantile_myasthenia'] | TGGTCCGGCCAGGTCTGGGATTTAGACCTGGTGGCCCAGGTAGCTGTGTGTCGGGGAAGGGGTGAATAGTAGGGAAATCAGGAGTGAAGGCAGGGGAGAGGTCAATTAGCCTTACAGGAGGCGAAGAAACCAAAATGTGAAATAGATCTTCCTGGAGATGGGGCCAGCTCCTGACAGTTCCAGGGCTGCAGAAGCAGCGGCTCATCAACTGCCTGCTATGAACGGTAAAGCTCTGCCCTCCAACCTGCTTTCAGTTTGCAACTTCCATGAAGGGCATAAAGTTACCCTGCAGTAAAGCTAGGGCAAGGCATTCTCACTAA... | TGGTCCGGCCAGGTCTGGGATTTAGACCTGGTGGCCCAGGTAGCTGTGTGTCGGGGAAGGGGTGAATAGTAGGGAAATCAGGAGTGAAGGCAGGGGAGAGGTCAATTAGCCTTACAGGAGGCGAAGAAACCAAAATGTGAAATAGATCTTCCTGGAGATGGGGCCAGCTCCTGACAGTTCCAGGGCTGCAGAAGCAGCGGCTCATCAACTGCCTGCTATGAACGGTAAAGCTCTGCCCTCCAACCTGCTTTCAGTTTGCAACTTCCATGAAGGGCATAAAGTTACCCTGCAGTAAAGCTAGGGCAAGGCATTCTCACTAA... | pathogenic | 160,367 |
Regarding the variant found on chromosome 10 at position 49662653 in gene CHAT (choline O-acetyltransferase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_infantile_myasthenia'] | GGAATCCGTGCTGGCAAAATGACCTAGGCTTTTGGTTTATTTGGATTTCTAAACGATATAAATATATGACAATAACAACTTTAAATTTATTAAAATGTCTAGGAAAACACCCTCCAAAGCATTGCCATAGGGTTGTGTTAATAATTTTAAGTTGATGAGAACAACCAAATCAAAGAGATGGGTTTGGGGAAAGGAGAGATACAAAGATGCTTAGGATGTGAATCTGGTGTGTGGTTGGACATGGAGGGTAAGGAAAGGGGGAAAGAAGCAAGGAAACCTAATAACTGGTAAGCATATTTGCCAGTGGTCGTGGAGAAATA... | GGAATCCGTGCTGGCAAAATGACCTAGGCTTTTGGTTTATTTGGATTTCTAAACGATATAAATATATGACAATAACAACTTTAAATTTATTAAAATGTCTAGGAAAACACCCTCCAAAGCATTGCCATAGGGTTGTGTTAATAATTTTAAGTTGATGAGAACAACCAAATCAAAGAGATGGGTTTGGGGAAAGGAGAGATACAAAGATGCTTAGGATGTGAATCTGGTGTGTGGTTGGACATGGAGGGTAAGGAAAGGGGGAAAGAAGCAAGGAAACCTAATAACTGGTAAGCATATTTGCCAGTGGTCGTGGAGAAATA... | pathogenic | 160,372 |
Benign or pathogenic: chromosome 10, position 52271337, gene PRKG1 (protein kinase cGMP-dependent 1) variant? Disease(s) if pathogenic? | benign | TCACATTTGGTGTTTTATTTTGAGTTACTACTGAATTTATTTGTAGCACACTAATCTGTCATCTTTGAGTTTCACAGCCAGAGTACAGGGTCTTTGGCTGTTAAAAGCATTTTCAAATACCCATTTTTCCCTCTACCTGTCATACTGATTCACAATTGCTGGCAGCTAACCGAGGCCCATTTATTTGCAGTATCTTCATGCTCCCTCCTAAGGAACTTGCCACATGAATATCTTCGAAGATTGAACTCAATCTGTACATGTGTGCAGGAACAAGACACTTAAGACCTTCGCTATCCCTGCTGATGAAGCAGTAAATAATT... | TCACATTTGGTGTTTTATTTTGAGTTACTACTGAATTTATTTGTAGCACACTAATCTGTCATCTTTGAGTTTCACAGCCAGAGTACAGGGTCTTTGGCTGTTAAAAGCATTTTCAAATACCCATTTTTCCCTCTACCTGTCATACTGATTCACAATTGCTGGCAGCTAACCGAGGCCCATTTATTTGCAGTATCTTCATGCTCCCTCCTAAGGAACTTGCCACATGAATATCTTCGAAGATTGAACTCAATCTGTACATGTGTGCAGGAACAAGACACTTAAGACCTTCGCTATCCCTGCTGATGAAGCAGTAAATAATT... | benign | 160,495 |
Does the variant impacting PRKG1 (protein kinase cGMP-dependent 1) on chromosome 10, position 52290207, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CAGCATAACACTTATACTGAAACTTGATAAAGTGAGGCATTGGCCAGATAAGTATGGGAAGAACCTTCCAGACCAAATAAGTAACACCATGAGGTAGGAAAGTGCTCGGCATTTCAGTGGAACAGAGAGAAGGCTATTGTTTCTGGATCCCAGTGAGTGAGGGTGGTAATGGCATGAGGTGGGGTAGTATCGTTGGTGTTCCTGCGGCCCCTCCTAATGATTTTGGACTTCATCTCAAGTATAATCAATGAGTCAGTAAGTGTGGAAAAGGTCAGAGAGTAGAAGAAGCATCTTGAATGACCAAGGACAGCATGAGGGCT... | CAGCATAACACTTATACTGAAACTTGATAAAGTGAGGCATTGGCCAGATAAGTATGGGAAGAACCTTCCAGACCAAATAAGTAACACCATGAGGTAGGAAAGTGCTCGGCATTTCAGTGGAACAGAGAGAAGGCTATTGTTTCTGGATCCCAGTGAGTGAGGGTGGTAATGGCATGAGGTGGGGTAGTATCGTTGGTGTTCCTGCGGCCCCTCCTAATGATTTTGGACTTCATCTCAAGTATAATCAATGAGTCAGTAAGTGTGGAAAAGGTCAGAGAGTAGAAGAAGCATCTTGAATGACCAAGGACAGCATGAGGGCT... | benign | 160,527 |
Does the variant impacting PRKG1 (protein kinase cGMP-dependent 1) on chromosome 10, position 52293775, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CTTTATAGCAGCATGATTTATAGTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTTAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTTGTGTTGATTTGCATTTCTCTGATGGCCAGTGATCCAGTGATGATGAGTATTTTTTCATGTGTTTTTTGGCTG... | CTTTATAGCAGCATGATTTATAGTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTTAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTTGTGTTGATTTGCATTTCTCTGATGGCCAGTGATCCAGTGATGATGAGTATTTTTTCATGTGTTTTTTGGCTG... | benign | 160,530 |
Regarding the variant at chromosome 10 and position 52293791, affecting gene PRKG1 (protein kinase cGMP-dependent 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TTTATAGTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTTAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTTGTGTTGATTTGCATTTCTCTGATGGCCAGTGATCCAGTGATGATGAGTATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTT... | TTTATAGTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTTAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTTGTGTTGATTTGCATTTCTCTGATGGCCAGTGATCCAGTGATGATGAGTATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTT... | benign | 160,533 |
Variant at chromosome 10, position 53807071, gene PCDH15 (protocadherin related 15): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CAAATATTTTCTTGGAAATCTGAAGTAAAAACATACTACTCTTACAAGTCGGCAAGTTTATGTCAGTACAATTCATTCACTTTGGAAATGAGGAAATAGCATAATAATAAACAATTTTTAAGACGCGAAACATGTAAGAGGGGAATAAATAATAGTGCATTATTCAGTCCTTCAACCATATATTAAGCATGCATGAGGAAATTTCATTAAAACCTGAACTTGGTCAATACTGTGCAAAATTTGAAGTGAGCTACATCTATATCATACTAAGTAATATTCAATAGAATTCTGAATTCTCTTAATCTATATTGTTTCATTCT... | CAAATATTTTCTTGGAAATCTGAAGTAAAAACATACTACTCTTACAAGTCGGCAAGTTTATGTCAGTACAATTCATTCACTTTGGAAATGAGGAAATAGCATAATAATAAACAATTTTTAAGACGCGAAACATGTAAGAGGGGAATAAATAATAGTGCATTATTCAGTCCTTCAACCATATATTAAGCATGCATGAGGAAATTTCATTAAAACCTGAACTTGGTCAATACTGTGCAAAATTTGAAGTGAGCTACATCTATATCATACTAAGTAATATTCAATAGAATTCTGAATTCTCTTAATCTATATTGTTTCATTCT... | benign | 160,559 |
Is the variant located on chromosome 10 at position 53808570, gene PCDH15 (protocadherin related 15), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GCACAGTTTATTAAAAATGTAAGTAAAAATTAATTAAAATATCTTTTAAAAAATTGGTCACAGTTTTGTCATTGGTATATGGAGGTTGTTCCAGGGGCCCATCCAAAGCTCTTCATCATCAGACTGTGTGTGGTCACTATGAAATTCCAAAGCCTCCTTGATGTTCTTACTGTCAATCATGGACTCCTGTTCAACTGTGCTTTTCAGCCTGTTCCTTAGTGGCTTCACCGCTGTATTGTCAGTCCCCACAGGGCAAGGGGCAAATGTAACCAGAGTTGGTCTTGCATTCATTTTTTCAGTAGAAAATGGCCCCTTTGATA... | GCACAGTTTATTAAAAATGTAAGTAAAAATTAATTAAAATATCTTTTAAAAAATTGGTCACAGTTTTGTCATTGGTATATGGAGGTTGTTCCAGGGGCCCATCCAAAGCTCTTCATCATCAGACTGTGTGTGGTCACTATGAAATTCCAAAGCCTCCTTGATGTTCTTACTGTCAATCATGGACTCCTGTTCAACTGTGCTTTTCAGCCTGTTCCTTAGTGGCTTCACCGCTGTATTGTCAGTCCCCACAGGGCAAGGGGCAAATGTAACCAGAGTTGGTCTTGCATTCATTTTTTCAGTAGAAAATGGCCCCTTTGATA... | benign | 160,561 |
Determine whether the variant at chromosome 10, position 53809211, in gene PCDH15 (protocadherin related 15) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | ATCAAATAAATTAAAAAGGCAATGATTACATTGCCTGTGAAATCCAAAACAATGACATTTAGAAAGCTGTCAAAGGTAAATCACTCAAGAGAGATAGAAGGAAGCCAGTCTTTATTAACATACATTTCCTTTCATCAATCCTTTATTGGCTTTAGATCTTTCTTATTAATGTTTGAAAAATGTATTGTTGAGTTGGAAAGCAGACATTTCAGGAAACACATGTATTCTTTTAGATCAAATTACTGATCCACATGGAAAAAAATGTATTACTTTTATTTAAGGAGCTGATCCACTATTTGACAGCTGCTCTACTATTCAGG... | ATCAAATAAATTAAAAAGGCAATGATTACATTGCCTGTGAAATCCAAAACAATGACATTTAGAAAGCTGTCAAAGGTAAATCACTCAAGAGAGATAGAAGGAAGCCAGTCTTTATTAACATACATTTCCTTTCATCAATCCTTTATTGGCTTTAGATCTTTCTTATTAATGTTTGAAAAATGTATTGTTGAGTTGGAAAGCAGACATTTCAGGAAACACATGTATTCTTTTAGATCAAATTACTGATCCACATGGAAAAAAATGTATTACTTTTATTTAAGGAGCTGATCCACTATTTGACAGCTGCTCTACTATTCAGG... | benign | 160,568 |
Variant at chromosome 10, position 53822122, gene PCDH15 (protocadherin related 15): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AAATTATAAATTTTACATTTGCAAAAAGCTGGTGTAGATATTAGCTTAGAAAAGACACACTCACATTAAAGGCTTACACAATTGTGAATACCTTGTCAGAGTCCGCCAAATAGCACAAGTTCTCATGCATATGACCAGCTGCCAACAAAAACTCCAACTGAAGTTTTTCAGTGAAAGAAAGAAAAAAATCACGTTCAAGAACCCCAAGAAAGTAATTACTCTTGATTTCGATGAAAAGATTTTGAAGCAGATGGGCTAATAAAAATAATCAGATTTACAGATTGTTTTCTGTCTGATCTTGGTAACTAGGAATGCCAGGT... | AAATTATAAATTTTACATTTGCAAAAAGCTGGTGTAGATATTAGCTTAGAAAAGACACACTCACATTAAAGGCTTACACAATTGTGAATACCTTGTCAGAGTCCGCCAAATAGCACAAGTTCTCATGCATATGACCAGCTGCCAACAAAAACTCCAACTGAAGTTTTTCAGTGAAAGAAAGAAAAAAATCACGTTCAAGAACCCCAAGAAAGTAATTACTCTTGATTTCGATGAAAAGATTTTGAAGCAGATGGGCTAATAAAAATAATCAGATTTACAGATTGTTTTCTGTCTGATCTTGGTAACTAGGAATGCCAGGT... | benign | 160,581 |
The genetic variant at chromosome 10, position 53822383, affecting gene PCDH15 (protocadherin related 15): benign or pathogenic? Disease name(s) if pathogenic? | benign | AAAATAATCAGATTTACAGATTGTTTTCTGTCTGATCTTGGTAACTAGGAATGCCAGGTCAAATTATTGAAGAAATATGAGGGATGAAGAAAACCTCTGAAATAACGCATTGAAGGGGGCTCTCAACTTATATTCATATACTTCCAATAGTAATTATCAGGTATGAGTTTTGCCTGTATTTTAGAATTGTACCCTTCTCCATGCAAACTTATATCTTCTAAAATCTTAAAACTCCAGAGTGTTTTATAAGTATTTGTTTTAAACACTTACATGTGCATTCAAAATGTGAACTTCCAGTAAATAAAACCTATTCCATGTGT... | AAAATAATCAGATTTACAGATTGTTTTCTGTCTGATCTTGGTAACTAGGAATGCCAGGTCAAATTATTGAAGAAATATGAGGGATGAAGAAAACCTCTGAAATAACGCATTGAAGGGGGCTCTCAACTTATATTCATATACTTCCAATAGTAATTATCAGGTATGAGTTTTGCCTGTATTTTAGAATTGTACCCTTCTCCATGCAAACTTATATCTTCTAAAATCTTAAAACTCCAGAGTGTTTTATAAGTATTTGTTTTAAACACTTACATGTGCATTCAAAATGTGAACTTCCAGTAAATAAAACCTATTCCATGTGT... | benign | 160,589 |
Evaluate the clinical significance of the mutation at chromosome 10, position 53822423 in gene PCDH15 (protocadherin related 15): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GTAACTAGGAATGCCAGGTCAAATTATTGAAGAAATATGAGGGATGAAGAAAACCTCTGAAATAACGCATTGAAGGGGGCTCTCAACTTATATTCATATACTTCCAATAGTAATTATCAGGTATGAGTTTTGCCTGTATTTTAGAATTGTACCCTTCTCCATGCAAACTTATATCTTCTAAAATCTTAAAACTCCAGAGTGTTTTATAAGTATTTGTTTTAAACACTTACATGTGCATTCAAAATGTGAACTTCCAGTAAATAAAACCTATTCCATGTGTTTCATGGGAAAAACAAAGTAATTACTTGATGGTCACATAT... | GTAACTAGGAATGCCAGGTCAAATTATTGAAGAAATATGAGGGATGAAGAAAACCTCTGAAATAACGCATTGAAGGGGGCTCTCAACTTATATTCATATACTTCCAATAGTAATTATCAGGTATGAGTTTTGCCTGTATTTTAGAATTGTACCCTTCTCCATGCAAACTTATATCTTCTAAAATCTTAAAACTCCAGAGTGTTTTATAAGTATTTGTTTTAAACACTTACATGTGCATTCAAAATGTGAACTTCCAGTAAATAAAACCTATTCCATGTGTTTCATGGGAAAAACAAAGTAATTACTTGATGGTCACATAT... | benign | 160,591 |
Clinical significance of chromosome 10, position 53822439, gene PCDH15 (protocadherin related 15): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGTCAAATTATTGAAGAAATATGAGGGATGAAGAAAACCTCTGAAATAACGCATTGAAGGGGGCTCTCAACTTATATTCATATACTTCCAATAGTAATTATCAGGTATGAGTTTTGCCTGTATTTTAGAATTGTACCCTTCTCCATGCAAACTTATATCTTCTAAAATCTTAAAACTCCAGAGTGTTTTATAAGTATTTGTTTTAAACACTTACATGTGCATTCAAAATGTGAACTTCCAGTAAATAAAACCTATTCCATGTGTTTCATGGGAAAAACAAAGTAATTACTTGATGGTCACATATTATACATTATATACTA... | GGTCAAATTATTGAAGAAATATGAGGGATGAAGAAAACCTCTGAAATAACGCATTGAAGGGGGCTCTCAACTTATATTCATATACTTCCAATAGTAATTATCAGGTATGAGTTTTGCCTGTATTTTAGAATTGTACCCTTCTCCATGCAAACTTATATCTTCTAAAATCTTAAAACTCCAGAGTGTTTTATAAGTATTTGTTTTAAACACTTACATGTGCATTCAAAATGTGAACTTCCAGTAAATAAAACCTATTCCATGTGTTTCATGGGAAAAACAAAGTAATTACTTGATGGTCACATATTATACATTATATACTA... | benign | 160,592 |
Variant at chromosome position 53822448, chromosome 10, gene PCDH15 (protocadherin related 15): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | ATTGAAGAAATATGAGGGATGAAGAAAACCTCTGAAATAACGCATTGAAGGGGGCTCTCAACTTATATTCATATACTTCCAATAGTAATTATCAGGTATGAGTTTTGCCTGTATTTTAGAATTGTACCCTTCTCCATGCAAACTTATATCTTCTAAAATCTTAAAACTCCAGAGTGTTTTATAAGTATTTGTTTTAAACACTTACATGTGCATTCAAAATGTGAACTTCCAGTAAATAAAACCTATTCCATGTGTTTCATGGGAAAAACAAAGTAATTACTTGATGGTCACATATTATACATTATATACTAATATTGAAA... | ATTGAAGAAATATGAGGGATGAAGAAAACCTCTGAAATAACGCATTGAAGGGGGCTCTCAACTTATATTCATATACTTCCAATAGTAATTATCAGGTATGAGTTTTGCCTGTATTTTAGAATTGTACCCTTCTCCATGCAAACTTATATCTTCTAAAATCTTAAAACTCCAGAGTGTTTTATAAGTATTTGTTTTAAACACTTACATGTGCATTCAAAATGTGAACTTCCAGTAAATAAAACCTATTCCATGTGTTTCATGGGAAAAACAAAGTAATTACTTGATGGTCACATATTATACATTATATACTAATATTGAAA... | benign | 160,594 |
Is the genetic variant on chromosome 10, position 53822891, gene PCDH15 (protocadherin related 15), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CAGTTTTATTTTCTTTGTTTAAAACAAAGAGCAGAAACCTAGGTAAAAGAGTGATTGATAGTTCAGCAAATATCACTTCTCTTGGTTTTTCTATTTAAGCTTTTTATATTTCATTTATTAAACTGAAGATCATACTTTCTTTAAAAAGGAATCTTATGAAAAAATTTAAATTAGGGAGATGATTAATAATATGAACAAACAAAATTAAACAGCACTTTTTAAGCATCTGTTGGAACAATGAAATGCCTTACAAAAGTCAACGACTCAAGATTTATTTTCATTATAAAGAAGGGAAGGGAAAGCACAATGAGAAATAAAGA... | CAGTTTTATTTTCTTTGTTTAAAACAAAGAGCAGAAACCTAGGTAAAAGAGTGATTGATAGTTCAGCAAATATCACTTCTCTTGGTTTTTCTATTTAAGCTTTTTATATTTCATTTATTAAACTGAAGATCATACTTTCTTTAAAAAGGAATCTTATGAAAAAATTTAAATTAGGGAGATGATTAATAATATGAACAAACAAAATTAAACAGCACTTTTTAAGCATCTGTTGGAACAATGAAATGCCTTACAAAAGTCAACGACTCAAGATTTATTTTCATTATAAAGAAGGGAAGGGAAAGCACAATGAGAAATAAAGA... | benign | 160,599 |
Located at chromosome 10 position 53823010, the variant affecting gene PCDH15 (protocadherin related 15)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | AAACTGAAGATCATACTTTCTTTAAAAAGGAATCTTATGAAAAAATTTAAATTAGGGAGATGATTAATAATATGAACAAACAAAATTAAACAGCACTTTTTAAGCATCTGTTGGAACAATGAAATGCCTTACAAAAGTCAACGACTCAAGATTTATTTTCATTATAAAGAAGGGAAGGGAAAGCACAATGAGAAATAAAGAGAATAAGACAGCAACTGAAAAAGTATAAGATTTATCAAATCCATAAGCATACTACTAAATCCATAAGCATACTACTAAGATAAAAGCAAGTCAGAGTAAAAGATGTTCTTATCAGAAAA... | AAACTGAAGATCATACTTTCTTTAAAAAGGAATCTTATGAAAAAATTTAAATTAGGGAGATGATTAATAATATGAACAAACAAAATTAAACAGCACTTTTTAAGCATCTGTTGGAACAATGAAATGCCTTACAAAAGTCAACGACTCAAGATTTATTTTCATTATAAAGAAGGGAAGGGAAAGCACAATGAGAAATAAAGAGAATAAGACAGCAACTGAAAAAGTATAAGATTTATCAAATCCATAAGCATACTACTAAATCCATAAGCATACTACTAAGATAAAAGCAAGTCAGAGTAAAAGATGTTCTTATCAGAAAA... | pathogenic | 160,603 |
Considering the genetic mutation at chromosome 10, position 53823098, impacting PCDH15 (protocadherin related 15): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | AACAGCACTTTTTAAGCATCTGTTGGAACAATGAAATGCCTTACAAAAGTCAACGACTCAAGATTTATTTTCATTATAAAGAAGGGAAGGGAAAGCACAATGAGAAATAAAGAGAATAAGACAGCAACTGAAAAAGTATAAGATTTATCAAATCCATAAGCATACTACTAAATCCATAAGCATACTACTAAGATAAAAGCAAGTCAGAGTAAAAGATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTAC... | AACAGCACTTTTTAAGCATCTGTTGGAACAATGAAATGCCTTACAAAAGTCAACGACTCAAGATTTATTTTCATTATAAAGAAGGGAAGGGAAAGCACAATGAGAAATAAAGAGAATAAGACAGCAACTGAAAAAGTATAAGATTTATCAAATCCATAAGCATACTACTAAATCCATAAGCATACTACTAAGATAAAAGCAAGTCAGAGTAAAAGATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTAC... | pathogenic | 160,604 |
Considering the genetic mutation at chromosome 10, position 53823117, impacting PCDH15 (protocadherin related 15): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | CTGTTGGAACAATGAAATGCCTTACAAAAGTCAACGACTCAAGATTTATTTTCATTATAAAGAAGGGAAGGGAAAGCACAATGAGAAATAAAGAGAATAAGACAGCAACTGAAAAAGTATAAGATTTATCAAATCCATAAGCATACTACTAAATCCATAAGCATACTACTAAGATAAAAGCAAGTCAGAGTAAAAGATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTT... | CTGTTGGAACAATGAAATGCCTTACAAAAGTCAACGACTCAAGATTTATTTTCATTATAAAGAAGGGAAGGGAAAGCACAATGAGAAATAAAGAGAATAAGACAGCAACTGAAAAAGTATAAGATTTATCAAATCCATAAGCATACTACTAAATCCATAAGCATACTACTAAGATAAAAGCAAGTCAGAGTAAAAGATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTT... | pathogenic | 160,606 |
Chromosome 10, position 53823125, gene PCDH15 (protocadherin related 15): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | ACAATGAAATGCCTTACAAAAGTCAACGACTCAAGATTTATTTTCATTATAAAGAAGGGAAGGGAAAGCACAATGAGAAATAAAGAGAATAAGACAGCAACTGAAAAAGTATAAGATTTATCAAATCCATAAGCATACTACTAAATCCATAAGCATACTACTAAGATAAAAGCAAGTCAGAGTAAAAGATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTTACCAAATA... | ACAATGAAATGCCTTACAAAAGTCAACGACTCAAGATTTATTTTCATTATAAAGAAGGGAAGGGAAAGCACAATGAGAAATAAAGAGAATAAGACAGCAACTGAAAAAGTATAAGATTTATCAAATCCATAAGCATACTACTAAATCCATAAGCATACTACTAAGATAAAAGCAAGTCAGAGTAAAAGATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTTACCAAATA... | pathogenic | 160,607 |
Benign or pathogenic: chromosome 10, position 53823125, gene PCDH15 (protocadherin related 15) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | ACAATGAAATGCCTTACAAAAGTCAACGACTCAAGATTTATTTTCATTATAAAGAAGGGAAGGGAAAGCACAATGAGAAATAAAGAGAATAAGACAGCAACTGAAAAAGTATAAGATTTATCAAATCCATAAGCATACTACTAAATCCATAAGCATACTACTAAGATAAAAGCAAGTCAGAGTAAAAGATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTTACCAAATA... | ACAATGAAATGCCTTACAAAAGTCAACGACTCAAGATTTATTTTCATTATAAAGAAGGGAAGGGAAAGCACAATGAGAAATAAAGAGAATAAGACAGCAACTGAAAAAGTATAAGATTTATCAAATCCATAAGCATACTACTAAATCCATAAGCATACTACTAAGATAAAAGCAAGTCAGAGTAAAAGATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTTACCAAATA... | pathogenic | 160,608 |
Is chromosome 10, position 53823156, gene PCDH15 (protocadherin related 15) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | CAAGATTTATTTTCATTATAAAGAAGGGAAGGGAAAGCACAATGAGAAATAAAGAGAATAAGACAGCAACTGAAAAAGTATAAGATTTATCAAATCCATAAGCATACTACTAAATCCATAAGCATACTACTAAGATAAAAGCAAGTCAGAGTAAAAGATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTTACCAAATACATAGGCTTCAAGAAAAAACAGAACCTATCA... | CAAGATTTATTTTCATTATAAAGAAGGGAAGGGAAAGCACAATGAGAAATAAAGAGAATAAGACAGCAACTGAAAAAGTATAAGATTTATCAAATCCATAAGCATACTACTAAATCCATAAGCATACTACTAAGATAAAAGCAAGTCAGAGTAAAAGATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTTACCAAATACATAGGCTTCAAGAAAAAACAGAACCTATCA... | pathogenic | 160,610 |
Gene PCDH15 (protocadherin related 15) variant at chromosome position 53823171 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | TTATAAAGAAGGGAAGGGAAAGCACAATGAGAAATAAAGAGAATAAGACAGCAACTGAAAAAGTATAAGATTTATCAAATCCATAAGCATACTACTAAATCCATAAGCATACTACTAAGATAAAAGCAAGTCAGAGTAAAAGATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTTACCAAATACATAGGCTTCAAGAAAAAACAGAACCTATCAATCATATCAGTTTTA... | TTATAAAGAAGGGAAGGGAAAGCACAATGAGAAATAAAGAGAATAAGACAGCAACTGAAAAAGTATAAGATTTATCAAATCCATAAGCATACTACTAAATCCATAAGCATACTACTAAGATAAAAGCAAGTCAGAGTAAAAGATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTTACCAAATACATAGGCTTCAAGAAAAAACAGAACCTATCAATCATATCAGTTTTA... | pathogenic | 160,611 |
Does the variant impacting PCDH15 (protocadherin related 15) on chromosome 10, position 53823174, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | TAAAGAAGGGAAGGGAAAGCACAATGAGAAATAAAGAGAATAAGACAGCAACTGAAAAAGTATAAGATTTATCAAATCCATAAGCATACTACTAAATCCATAAGCATACTACTAAGATAAAAGCAAGTCAGAGTAAAAGATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTTACCAAATACATAGGCTTCAAGAAAAAACAGAACCTATCAATCATATCAGTTTTAACT... | TAAAGAAGGGAAGGGAAAGCACAATGAGAAATAAAGAGAATAAGACAGCAACTGAAAAAGTATAAGATTTATCAAATCCATAAGCATACTACTAAATCCATAAGCATACTACTAAGATAAAAGCAAGTCAGAGTAAAAGATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTTACCAAATACATAGGCTTCAAGAAAAAACAGAACCTATCAATCATATCAGTTTTAACT... | pathogenic | 160,612 |
Variant in gene PCDH15 (protocadherin related 15), located at chromosome 10 position 53823199: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_23', 'Usher_syndrome_type_1D', 'Usher_syndrome_type_1F'] | GAGAAATAAAGAGAATAAGACAGCAACTGAAAAAGTATAAGATTTATCAAATCCATAAGCATACTACTAAATCCATAAGCATACTACTAAGATAAAAGCAAGTCAGAGTAAAAGATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTTACCAAATACATAGGCTTCAAGAAAAAACAGAACCTATCAATCATATCAGTTTTAACTTATTTGTAACAGTCTGCTTTTTTCT... | GAGAAATAAAGAGAATAAGACAGCAACTGAAAAAGTATAAGATTTATCAAATCCATAAGCATACTACTAAATCCATAAGCATACTACTAAGATAAAAGCAAGTCAGAGTAAAAGATGTTCTTATCAGAAAACAGATGACTACATGTTATAGCACCTGAGATTTATTTTGAAATACCTTATGTCTGTCATCTCCTACAATCTAGGTACATTATATTTTACTTCGGTAGTATTTCTTCTTACCAAATACATAGGCTTCAAGAAAAAACAGAACCTATCAATCATATCAGTTTTAACTTATTTGTAACAGTCTGCTTTTTTCT... | pathogenic | 160,613 |
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