question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Gene UPF3B (UPF3B regulator of nonsense mediated mRNA decay) variant at chromosome X, position 119841184—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Syndromic_X-linked_intellectual_disability_14'] | TCTGTAGCAAACCAGCATGTTGATATAACTTAATGGGAAACAGCCCACAAATTTTAAGTGATAGGCAGATCGTTTCTGTTGGGACTGTTTTTATGTAGTACTTGGAATGACAAATACCTTGGTCACCAAAGGAGAGATCCATTGCAGGAATAATTTTGCCTTGAGCCTGAGAATAACATACTTATGATGGTACAATTATCTTGCCATTAGAGATTAATAACAAGAATTATTTGGCATTTGATTTAAAAATCTAAAGGCCTTATACAACCAAATAGTGAAGTTCCATCTCTACTGAGTAGGAACTCTGTATTTAATGCCAT... | TCTGTAGCAAACCAGCATGTTGATATAACTTAATGGGAAACAGCCCACAAATTTTAAGTGATAGGCAGATCGTTTCTGTTGGGACTGTTTTTATGTAGTACTTGGAATGACAAATACCTTGGTCACCAAAGGAGAGATCCATTGCAGGAATAATTTTGCCTTGAGCCTGAGAATAACATACTTATGATGGTACAATTATCTTGCCATTAGAGATTAATAACAAGAATTATTTGGCATTTGATTTAAAAATCTAAAGGCCTTATACAACCAAATAGTGAAGTTCCATCTCTACTGAGTAGGAACTCTGTATTTAATGCCAT... | pathogenic | 338,581 |
Does the genetic variant at chromosome X, position 119841197, impacting gene UPF3B (UPF3B regulator of nonsense mediated mRNA decay), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Syndromic_X-linked_intellectual_disability_14'] | AGCATGTTGATATAACTTAATGGGAAACAGCCCACAAATTTTAAGTGATAGGCAGATCGTTTCTGTTGGGACTGTTTTTATGTAGTACTTGGAATGACAAATACCTTGGTCACCAAAGGAGAGATCCATTGCAGGAATAATTTTGCCTTGAGCCTGAGAATAACATACTTATGATGGTACAATTATCTTGCCATTAGAGATTAATAACAAGAATTATTTGGCATTTGATTTAAAAATCTAAAGGCCTTATACAACCAAATAGTGAAGTTCCATCTCTACTGAGTAGGAACTCTGTATTTAATGCCATATTTACGCATGTT... | AGCATGTTGATATAACTTAATGGGAAACAGCCCACAAATTTTAAGTGATAGGCAGATCGTTTCTGTTGGGACTGTTTTTATGTAGTACTTGGAATGACAAATACCTTGGTCACCAAAGGAGAGATCCATTGCAGGAATAATTTTGCCTTGAGCCTGAGAATAACATACTTATGATGGTACAATTATCTTGCCATTAGAGATTAATAACAAGAATTATTTGGCATTTGATTTAAAAATCTAAAGGCCTTATACAACCAAATAGTGAAGTTCCATCTCTACTGAGTAGGAACTCTGTATTTAATGCCATATTTACGCATGTT... | pathogenic | 338,582 |
Does the variant on chromosome X at location 119841205 affecting gene UPF3B (UPF3B regulator of nonsense mediated mRNA decay) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Syndromic_X-linked_intellectual_disability_14', 'UPF3B-associated_intellectual_disability'] | GATATAACTTAATGGGAAACAGCCCACAAATTTTAAGTGATAGGCAGATCGTTTCTGTTGGGACTGTTTTTATGTAGTACTTGGAATGACAAATACCTTGGTCACCAAAGGAGAGATCCATTGCAGGAATAATTTTGCCTTGAGCCTGAGAATAACATACTTATGATGGTACAATTATCTTGCCATTAGAGATTAATAACAAGAATTATTTGGCATTTGATTTAAAAATCTAAAGGCCTTATACAACCAAATAGTGAAGTTCCATCTCTACTGAGTAGGAACTCTGTATTTAATGCCATATTTACGCATGTTCAAAAATG... | GATATAACTTAATGGGAAACAGCCCACAAATTTTAAGTGATAGGCAGATCGTTTCTGTTGGGACTGTTTTTATGTAGTACTTGGAATGACAAATACCTTGGTCACCAAAGGAGAGATCCATTGCAGGAATAATTTTGCCTTGAGCCTGAGAATAACATACTTATGATGGTACAATTATCTTGCCATTAGAGATTAATAACAAGAATTATTTGGCATTTGATTTAAAAATCTAAAGGCCTTATACAACCAAATAGTGAAGTTCCATCTCTACTGAGTAGGAACTCTGTATTTAATGCCATATTTACGCATGTTCAAAAATG... | pathogenic | 338,583 |
Gene UPF3B (UPF3B regulator of nonsense mediated mRNA decay) variant at chromosome position 119851748 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ACTGTTAATTTAAATCATTATTTTCAAAAAGATTAATTTCATGGCAATATAATAGACTGAATTATACAAGAATGAAAAAAATGGAAAATCCTGTAAGTTTAGAGACAGTGGTTGTCTAGGCATTAAGTGATGAGGACATAAAGTGTGACTGTTTAAGGCTAGGTGAACAAGATATTAAAAAAAAACAATAAAATCCAGCCTGGGCAACATAAGCAGACCTTGTCTCTAAGATTTAAAAACAAAACAAAACAAACAAACAAACAAAAAACACAATGAGGAAAGGATAGTCTCTTTAATAAGTGGTGTTGAGCTGGGTATGG... | ACTGTTAATTTAAATCATTATTTTCAAAAAGATTAATTTCATGGCAATATAATAGACTGAATTATACAAGAATGAAAAAAATGGAAAATCCTGTAAGTTTAGAGACAGTGGTTGTCTAGGCATTAAGTGATGAGGACATAAAGTGTGACTGTTTAAGGCTAGGTGAACAAGATATTAAAAAAAAACAATAAAATCCAGCCTGGGCAACATAAGCAGACCTTGTCTCTAAGATTTAAAAACAAAACAAAACAAACAAACAAACAAAAAACACAATGAGGAAAGGATAGTCTCTTTAATAAGTGGTGTTGAGCTGGGTATGG... | benign | 338,592 |
Variant on chromosome X, at position 119851748, affecting UPF3B (UPF3B regulator of nonsense mediated mRNA decay): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACTGTTAATTTAAATCATTATTTTCAAAAAGATTAATTTCATGGCAATATAATAGACTGAATTATACAAGAATGAAAAAAATGGAAAATCCTGTAAGTTTAGAGACAGTGGTTGTCTAGGCATTAAGTGATGAGGACATAAAGTGTGACTGTTTAAGGCTAGGTGAACAAGATATTAAAAAAAAACAATAAAATCCAGCCTGGGCAACATAAGCAGACCTTGTCTCTAAGATTTAAAAACAAAACAAAACAAACAAACAAACAAAAAACACAATGAGGAAAGGATAGTCTCTTTAATAAGTGGTGTTGAGCTGGGTATGG... | ACTGTTAATTTAAATCATTATTTTCAAAAAGATTAATTTCATGGCAATATAATAGACTGAATTATACAAGAATGAAAAAAATGGAAAATCCTGTAAGTTTAGAGACAGTGGTTGTCTAGGCATTAAGTGATGAGGACATAAAGTGTGACTGTTTAAGGCTAGGTGAACAAGATATTAAAAAAAAACAATAAAATCCAGCCTGGGCAACATAAGCAGACCTTGTCTCTAAGATTTAAAAACAAAACAAAACAAACAAACAAACAAAAAACACAATGAGGAAAGGATAGTCTCTTTAATAAGTGGTGTTGAGCTGGGTATGG... | benign | 338,593 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 119851748, gene UPF3B (UPF3B regulator of nonsense mediated mRNA decay). What disease(s) is it linked to if pathogenic? | benign | ACTGTTAATTTAAATCATTATTTTCAAAAAGATTAATTTCATGGCAATATAATAGACTGAATTATACAAGAATGAAAAAAATGGAAAATCCTGTAAGTTTAGAGACAGTGGTTGTCTAGGCATTAAGTGATGAGGACATAAAGTGTGACTGTTTAAGGCTAGGTGAACAAGATATTAAAAAAAAACAATAAAATCCAGCCTGGGCAACATAAGCAGACCTTGTCTCTAAGATTTAAAAACAAAACAAAACAAACAAACAAACAAAAAACACAATGAGGAAAGGATAGTCTCTTTAATAAGTGGTGTTGAGCTGGGTATGG... | ACTGTTAATTTAAATCATTATTTTCAAAAAGATTAATTTCATGGCAATATAATAGACTGAATTATACAAGAATGAAAAAAATGGAAAATCCTGTAAGTTTAGAGACAGTGGTTGTCTAGGCATTAAGTGATGAGGACATAAAGTGTGACTGTTTAAGGCTAGGTGAACAAGATATTAAAAAAAAACAATAAAATCCAGCCTGGGCAACATAAGCAGACCTTGTCTCTAAGATTTAAAAACAAAACAAAACAAACAAACAAACAAAAAACACAATGAGGAAAGGATAGTCTCTTTAATAAGTGGTGTTGAGCTGGGTATGG... | benign | 338,594 |
The mutation impacting UPF3B (UPF3B regulator of nonsense mediated mRNA decay) on chromosome X at position 119851748: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ACTGTTAATTTAAATCATTATTTTCAAAAAGATTAATTTCATGGCAATATAATAGACTGAATTATACAAGAATGAAAAAAATGGAAAATCCTGTAAGTTTAGAGACAGTGGTTGTCTAGGCATTAAGTGATGAGGACATAAAGTGTGACTGTTTAAGGCTAGGTGAACAAGATATTAAAAAAAAACAATAAAATCCAGCCTGGGCAACATAAGCAGACCTTGTCTCTAAGATTTAAAAACAAAACAAAACAAACAAACAAACAAAAAACACAATGAGGAAAGGATAGTCTCTTTAATAAGTGGTGTTGAGCTGGGTATGG... | ACTGTTAATTTAAATCATTATTTTCAAAAAGATTAATTTCATGGCAATATAATAGACTGAATTATACAAGAATGAAAAAAATGGAAAATCCTGTAAGTTTAGAGACAGTGGTTGTCTAGGCATTAAGTGATGAGGACATAAAGTGTGACTGTTTAAGGCTAGGTGAACAAGATATTAAAAAAAAACAATAAAATCCAGCCTGGGCAACATAAGCAGACCTTGTCTCTAAGATTTAAAAACAAAACAAAACAAACAAACAAACAAAAAACACAATGAGGAAAGGATAGTCTCTTTAATAAGTGGTGTTGAGCTGGGTATGG... | benign | 338,595 |
Variant at chromosome X, position 119851748, gene UPF3B (UPF3B regulator of nonsense mediated mRNA decay): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | ACTGTTAATTTAAATCATTATTTTCAAAAAGATTAATTTCATGGCAATATAATAGACTGAATTATACAAGAATGAAAAAAATGGAAAATCCTGTAAGTTTAGAGACAGTGGTTGTCTAGGCATTAAGTGATGAGGACATAAAGTGTGACTGTTTAAGGCTAGGTGAACAAGATATTAAAAAAAAACAATAAAATCCAGCCTGGGCAACATAAGCAGACCTTGTCTCTAAGATTTAAAAACAAAACAAAACAAACAAACAAACAAAAAACACAATGAGGAAAGGATAGTCTCTTTAATAAGTGGTGTTGAGCTGGGTATGG... | ACTGTTAATTTAAATCATTATTTTCAAAAAGATTAATTTCATGGCAATATAATAGACTGAATTATACAAGAATGAAAAAAATGGAAAATCCTGTAAGTTTAGAGACAGTGGTTGTCTAGGCATTAAGTGATGAGGACATAAAGTGTGACTGTTTAAGGCTAGGTGAACAAGATATTAAAAAAAAACAATAAAATCCAGCCTGGGCAACATAAGCAGACCTTGTCTCTAAGATTTAAAAACAAAACAAAACAAACAAACAAACAAAAAACACAATGAGGAAAGGATAGTCTCTTTAATAAGTGGTGTTGAGCTGGGTATGG... | benign | 338,596 |
For chromosome X, position 120427852, gene LAMP2 (lysosomal associated membrane protein 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | AATGAAATGAACTTCAACAATTAGTATAGTTCATCAATGCAGACAGACATACGCGGAAAGTACGTTTGTTATGATGTTCTTACATTTGTTAGATTTCCATATTTTGTTTTTGATGTTTTCTTGTAATTTCCATGACTAAGTAGGTCCCCCTATTTGAGGTGTCTGTACTAAAGGTTCTGTACTAGTGCCTTCCTAATGACGGGACTTGGTTAAGTTGCAGATCTATGAGATCCTATGATTCCTGTTGACAATCCAAGAGACTAGAATTCAAGAAACTTAGATTATACAATTAAGTCTAAGCTCTTAAGGCTGAGCATATG... | AATGAAATGAACTTCAACAATTAGTATAGTTCATCAATGCAGACAGACATACGCGGAAAGTACGTTTGTTATGATGTTCTTACATTTGTTAGATTTCCATATTTTGTTTTTGATGTTTTCTTGTAATTTCCATGACTAAGTAGGTCCCCCTATTTGAGGTGTCTGTACTAAAGGTTCTGTACTAGTGCCTTCCTAATGACGGGACTTGGTTAAGTTGCAGATCTATGAGATCCTATGATTCCTGTTGACAATCCAAGAGACTAGAATTCAAGAAACTTAGATTATACAATTAAGTCTAAGCTCTTAAGGCTGAGCATATG... | benign | 338,626 |
Does the variant impacting LAMP2 (lysosomal associated membrane protein 2) on chromosome X, position 120428291, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GCAGGTATTAATTGGTTCTCTAAATCGATACATCCAAAACTTTAGTTAGCAGCAAGCATCAGTTCTTCCAAAGCAGCTTAGGTGAAAAACAATTGTTTACATTCACCAGTTCAAAGTCGTACTGTCTGATCCACTGTTGTATTGACATAAAATTGAACTCAGTAGGCAAAGCTAATTGAACACTCAGCTCATAGATTTTGAGCTTCCTTTATCTTATTGGAGTTGAAGCAGTTTTTAACCCTCTGTTAATATTCTCTATTTTAATTCTCAAAGAATTAAACACACATATTTTCTAATTAATTAAGATAGAGCCATGATAA... | GCAGGTATTAATTGGTTCTCTAAATCGATACATCCAAAACTTTAGTTAGCAGCAAGCATCAGTTCTTCCAAAGCAGCTTAGGTGAAAAACAATTGTTTACATTCACCAGTTCAAAGTCGTACTGTCTGATCCACTGTTGTATTGACATAAAATTGAACTCAGTAGGCAAAGCTAATTGAACACTCAGCTCATAGATTTTGAGCTTCCTTTATCTTATTGGAGTTGAAGCAGTTTTTAACCCTCTGTTAATATTCTCTATTTTAATTCTCAAAGAATTAAACACACATATTTTCTAATTAATTAAGATAGAGCCATGATAA... | benign | 338,629 |
A genetic alteration at chromosome X, position 120429161, in gene LAMP2 (lysosomal associated membrane protein 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TTGGAATGAATAACCAACTCACTTTATTTAAGGTTCAGGCTTAATTTTTTTAATCCAAAAAAAATTTCTGAAGTGAAGGCAGATCTTTGGGAACTTTTGTTTTTAGTTAAATGTAGAGATAAAATAGCTTGATAAAATAAACATCTGCCTTATACTAATGACAGGTGTACAAAGCAGCCATTTGAACCCTAGACAACTTCAACACTGCTTCCAAATAAAAGGGCAATTCAACAGCTGAACCAATCAAGCAGACACAGGGATGAGTGGTCTCCAGTACCTTACTCCAGAAGCCGGAGCCATTAGCAGTCCCTACAGGGATA... | TTGGAATGAATAACCAACTCACTTTATTTAAGGTTCAGGCTTAATTTTTTTAATCCAAAAAAAATTTCTGAAGTGAAGGCAGATCTTTGGGAACTTTTGTTTTTAGTTAAATGTAGAGATAAAATAGCTTGATAAAATAAACATCTGCCTTATACTAATGACAGGTGTACAAAGCAGCCATTTGAACCCTAGACAACTTCAACACTGCTTCCAAATAAAAGGGCAATTCAACAGCTGAACCAATCAAGCAGACACAGGGATGAGTGGTCTCCAGTACCTTACTCCAGAAGCCGGAGCCATTAGCAGTCCCTACAGGGATA... | benign | 338,636 |
Is the variant located on chromosome X at position 120441848, gene LAMP2 (lysosomal associated membrane protein 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype'] | AGCCCACTTTTACATAGCCAGATTAGCCTCTCAGTGGTAGAGTGAATGTCTTTTGGGAAAGTGGAAACAGGATCAGGAAGGTATCATGTGATGAGAATAGCCAGGCTGGCTCTGTCTTTAGGGTCAGGGGTCAGCAAGCTGTAGCCCATGGGCCAGATCTGGTCCAAGAGCTAAAAATGGCCTTTACATTTTTAAATGGTTGAAAAAAATATTTTGTGACACATGAGAGCATATAAAATTCAAATTCCAGTGTCCATAAATAAGGTTTTATTGGAACCCAGCCACAGTCATCTGTTTATGTGTTGCTGTTTTCGTGCTAC... | AGCCCACTTTTACATAGCCAGATTAGCCTCTCAGTGGTAGAGTGAATGTCTTTTGGGAAAGTGGAAACAGGATCAGGAAGGTATCATGTGATGAGAATAGCCAGGCTGGCTCTGTCTTTAGGGTCAGGGGTCAGCAAGCTGTAGCCCATGGGCCAGATCTGGTCCAAGAGCTAAAAATGGCCTTTACATTTTTAAATGGTTGAAAAAAATATTTTGTGACACATGAGAGCATATAAAATTCAAATTCCAGTGTCCATAAATAAGGTTTTATTGGAACCCAGCCACAGTCATCTGTTTATGTGTTGCTGTTTTCGTGCTAC... | pathogenic | 338,665 |
Is the genetic variant on chromosome X, position 120446298, gene LAMP2 (lysosomal associated membrane protein 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Danon_disease', 'Hypertrophic_cardiomyopathy'] | ACTTCAGAGAAATTTCAGGAAGAAGCATAATGGAGGACTTCACACCTTCATCACATCCCTCCTCGACTTAGGCTACATCTTGGCTTTGCATTCAAGACTCCACAATTTGTCCCAATGACTTTTCCACATTTTCACTAAACATATAACACTCCTCATTCTCCCAGCTGGTCTTGATTATGCCCTTTATCCAGGGATAACCTGCACTTTCCCACTTACTCTCCTTATCTCCCTACCAATACAAATCAGACCCATCCTTGAAGGCCCAGCTCAAATGCCATCTCTGCCATTAAACCTTCCTGACTCTCCTCCAGCCGGAATTA... | ACTTCAGAGAAATTTCAGGAAGAAGCATAATGGAGGACTTCACACCTTCATCACATCCCTCCTCGACTTAGGCTACATCTTGGCTTTGCATTCAAGACTCCACAATTTGTCCCAATGACTTTTCCACATTTTCACTAAACATATAACACTCCTCATTCTCCCAGCTGGTCTTGATTATGCCCTTTATCCAGGGATAACCTGCACTTTCCCACTTACTCTCCTTATCTCCCTACCAATACAAATCAGACCCATCCTTGAAGGCCCAGCTCAAATGCCATCTCTGCCATTAAACCTTCCTGACTCTCCTCCAGCCGGAATTA... | pathogenic | 338,677 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 120446316, gene LAMP2 (lysosomal associated membrane protein 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Danon_disease'] | GAAGAAGCATAATGGAGGACTTCACACCTTCATCACATCCCTCCTCGACTTAGGCTACATCTTGGCTTTGCATTCAAGACTCCACAATTTGTCCCAATGACTTTTCCACATTTTCACTAAACATATAACACTCCTCATTCTCCCAGCTGGTCTTGATTATGCCCTTTATCCAGGGATAACCTGCACTTTCCCACTTACTCTCCTTATCTCCCTACCAATACAAATCAGACCCATCCTTGAAGGCCCAGCTCAAATGCCATCTCTGCCATTAAACCTTCCTGACTCTCCTCCAGCCGGAATTAACCTCTCCCTCCTCCATT... | GAAGAAGCATAATGGAGGACTTCACACCTTCATCACATCCCTCCTCGACTTAGGCTACATCTTGGCTTTGCATTCAAGACTCCACAATTTGTCCCAATGACTTTTCCACATTTTCACTAAACATATAACACTCCTCATTCTCCCAGCTGGTCTTGATTATGCCCTTTATCCAGGGATAACCTGCACTTTCCCACTTACTCTCCTTATCTCCCTACCAATACAAATCAGACCCATCCTTGAAGGCCCAGCTCAAATGCCATCTCTGCCATTAAACCTTCCTGACTCTCCTCCAGCCGGAATTAACCTCTCCCTCCTCCATT... | pathogenic | 338,679 |
Gene LAMP2 (lysosomal associated membrane protein 2) variant at chromosome position 120446431 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ACTAAACATATAACACTCCTCATTCTCCCAGCTGGTCTTGATTATGCCCTTTATCCAGGGATAACCTGCACTTTCCCACTTACTCTCCTTATCTCCCTACCAATACAAATCAGACCCATCCTTGAAGGCCCAGCTCAAATGCCATCTCTGCCATTAAACCTTCCTGACTCTCCTCCAGCCGGAATTAACCTCTCCCTCCTCCATTCTCCTGCAGCACTTTGTACTATTCTCTGGTCTGGCACTCATCCCATTTCATATACACCTTCCACAGTACTATACTGCCTACAGAATCGAGTTCAAAAGCCTTGGCATGGCATGTA... | ACTAAACATATAACACTCCTCATTCTCCCAGCTGGTCTTGATTATGCCCTTTATCCAGGGATAACCTGCACTTTCCCACTTACTCTCCTTATCTCCCTACCAATACAAATCAGACCCATCCTTGAAGGCCCAGCTCAAATGCCATCTCTGCCATTAAACCTTCCTGACTCTCCTCCAGCCGGAATTAACCTCTCCCTCCTCCATTCTCCTGCAGCACTTTGTACTATTCTCTGGTCTGGCACTCATCCCATTTCATATACACCTTCCACAGTACTATACTGCCTACAGAATCGAGTTCAAAAGCCTTGGCATGGCATGTA... | benign | 338,687 |
Regarding the variant at chromosome X and position 120446434, affecting gene LAMP2 (lysosomal associated membrane protein 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AAACATATAACACTCCTCATTCTCCCAGCTGGTCTTGATTATGCCCTTTATCCAGGGATAACCTGCACTTTCCCACTTACTCTCCTTATCTCCCTACCAATACAAATCAGACCCATCCTTGAAGGCCCAGCTCAAATGCCATCTCTGCCATTAAACCTTCCTGACTCTCCTCCAGCCGGAATTAACCTCTCCCTCCTCCATTCTCCTGCAGCACTTTGTACTATTCTCTGGTCTGGCACTCATCCCATTTCATATACACCTTCCACAGTACTATACTGCCTACAGAATCGAGTTCAAAAGCCTTGGCATGGCATGTAGGC... | AAACATATAACACTCCTCATTCTCCCAGCTGGTCTTGATTATGCCCTTTATCCAGGGATAACCTGCACTTTCCCACTTACTCTCCTTATCTCCCTACCAATACAAATCAGACCCATCCTTGAAGGCCCAGCTCAAATGCCATCTCTGCCATTAAACCTTCCTGACTCTCCTCCAGCCGGAATTAACCTCTCCCTCCTCCATTCTCCTGCAGCACTTTGTACTATTCTCTGGTCTGGCACTCATCCCATTTCATATACACCTTCCACAGTACTATACTGCCTACAGAATCGAGTTCAAAAGCCTTGGCATGGCATGTAGGC... | benign | 338,688 |
The genetic variant at chromosome X, position 120447922, affecting gene LAMP2 (lysosomal associated membrane protein 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Danon_disease'] | TTTTATTACTGACACTATCACAAATAATATAGCCTCCAAATGGCTTCAAATAGTATCACAGAAAAACATGAGCACTACCTAACCAATAACAGAGAAAAAATTATCATGGAAATTACTTATGTATGGATAGATTAGACAATTGTGGGTTTCGTTTTTTTCTTTTTTTTGATGTGAGTTAATTCTTGCTTCTACCCTAGAGTCTCTCTAATGGTAAAATGGCCACTCTTGGTGAACATTAATGCAAGAGTCCAGTCCACAGACCATTGCACAGACTCTGAGGGATGAACAGGGATGAATGGACTACACTTTATAATTGAGTA... | TTTTATTACTGACACTATCACAAATAATATAGCCTCCAAATGGCTTCAAATAGTATCACAGAAAAACATGAGCACTACCTAACCAATAACAGAGAAAAAATTATCATGGAAATTACTTATGTATGGATAGATTAGACAATTGTGGGTTTCGTTTTTTTCTTTTTTTTGATGTGAGTTAATTCTTGCTTCTACCCTAGAGTCTCTCTAATGGTAAAATGGCCACTCTTGGTGAACATTAATGCAAGAGTCCAGTCCACAGACCATTGCACAGACTCTGAGGGATGAACAGGGATGAATGGACTACACTTTATAATTGAGTA... | pathogenic | 338,693 |
Clinically, how would you classify the variant at chromosome X, position 120449062, gene LAMP2 (lysosomal associated membrane protein 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Danon_disease', 'Primary_familial_hypertrophic_cardiomyopathy'] | GCCGGCCAACACAACACCTGAAAGTGACATTAACACATCATGGTTATAGTAACTCCTAACTAATCAAAGCTCAACAAGCCAACATGAAATCTCCATTTAAAACTGAATCAGGCTGGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTAAAAACCCATTTCTACTAAAAATACAAAAAAATTAGTTGTGCATGGCAGTGCACGCCTGTAACCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTAAACCCT... | GCCGGCCAACACAACACCTGAAAGTGACATTAACACATCATGGTTATAGTAACTCCTAACTAATCAAAGCTCAACAAGCCAACATGAAATCTCCATTTAAAACTGAATCAGGCTGGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTAAAAACCCATTTCTACTAAAAATACAAAAAAATTAGTTGTGCATGGCAGTGCACGCCTGTAACCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCACTTAAACCCT... | pathogenic | 338,697 |
Variant at chromosome position 120456677, chromosome X, gene LAMP2 (lysosomal associated membrane protein 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TTTCTCATTCATCAAACCTTTGTTTCATGCACACTACTGAATGAAATCAATAATAGTTAAGTATATGAATTCTGCAGGTCAATAGACTGCTTCAAACACCAGCTCGCCCACTTACCAGACTGTGTGATGTTTGGAAAAGTCATTTAATCTTATCAAGCCTCATTTCCTTTACCTGTAAAAATGAAACAACATCTACTTCCCAGGGTTGCTGTTAAGAATTAAGTGAGATGCTGCAGGTAACACACTAGGTGTGTTACTGTATACTAGGAGATATATATATATATATACACACACACACACACTAGGATATATATATATAT... | TTTCTCATTCATCAAACCTTTGTTTCATGCACACTACTGAATGAAATCAATAATAGTTAAGTATATGAATTCTGCAGGTCAATAGACTGCTTCAAACACCAGCTCGCCCACTTACCAGACTGTGTGATGTTTGGAAAAGTCATTTAATCTTATCAAGCCTCATTTCCTTTACCTGTAAAAATGAAACAACATCTACTTCCCAGGGTTGCTGTTAAGAATTAAGTGAGATGCTGCAGGTAACACACTAGGTGTGTTACTGTATACTAGGAGATATATATATATATATACACACACACACACACTAGGATATATATATATAT... | benign | 338,708 |
Is the genetic change at chromosome X, position 120469183, within gene LAMP2 (lysosomal associated membrane protein 2) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CCCAGCAGAAAAGGACAAATACCTTCTTAACCTTATTCCGAAGTTTTGATTTCACAGACGCATGAAAAGGTCCTCGAGAGTCACTGAATTAGATAATCAAGAACCCTTCCAATACTATGGTTTTCGAGCAGGATTTATCAATGTTGGCACCATTGACATTTTCAGGGAGATGATTCTTTGTTGTCAGGGGCTGCCCTGTGCTTAGTTAGGATGTTTAGCAGCATCCTTGGCCTCTACCCACTAGATGCTAAAAGCAATCCCCCAGTTGTTACAACCAAAAATGTCTCCAGATGTTGCCAAATGTCCCCTGGTTGAGAATC... | CCCAGCAGAAAAGGACAAATACCTTCTTAACCTTATTCCGAAGTTTTGATTTCACAGACGCATGAAAAGGTCCTCGAGAGTCACTGAATTAGATAATCAAGAACCCTTCCAATACTATGGTTTTCGAGCAGGATTTATCAATGTTGGCACCATTGACATTTTCAGGGAGATGATTCTTTGTTGTCAGGGGCTGCCCTGTGCTTAGTTAGGATGTTTAGCAGCATCCTTGGCCTCTACCCACTAGATGCTAAAAGCAATCCCCCAGTTGTTACAACCAAAAATGTCTCCAGATGTTGCCAAATGTCCCCTGGTTGAGAATC... | benign | 338,719 |
Variant at chromosome position 120535849, chromosome X, gene CUL4B (cullin 4B): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic | CTCACACCTGTAATCCCAGCACTTTGGTAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCCAGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCAGAGGCAGGAGAATTGCTTGAACACAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCGTCTTGAGGGGAAAAAAAAAGAGTTCTGGCTGGCTGCAGGGGCTCATGCCTGTAATTGCA... | CTCACACCTGTAATCCCAGCACTTTGGTAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCCAGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCAGAGGCAGGAGAATTGCTTGAACACAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCGTCTTGAGGGGAAAAAAAAAGAGTTCTGGCTGGCTGCAGGGGCTCATGCCTGTAATTGCA... | pathogenic | 338,726 |
Chromosome X, position 120543041, gene CUL4B (cullin 4B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ATGGCAATCTGGCTTTAGTGTAAGATTGAAGAAAGGAAAGAAATTTGGGGTTCAAAGTCTTTTTCTACATTTACTGCTTTAAGTGGTAGAGACAGAAATTATGTCAGCCATCAATCAGGTTTTATAGCTGATATGCCACACAGCTACCATTCTCAGGTTGACTGTTCTCAAAATTCCCATTACTTTTTAAACAAATTTAAAATTCCCTTAAAAGAACTGGATCAAGTCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGTTCAGGAGTTCAAGGCCAGCCTGACC... | ATGGCAATCTGGCTTTAGTGTAAGATTGAAGAAAGGAAAGAAATTTGGGGTTCAAAGTCTTTTTCTACATTTACTGCTTTAAGTGGTAGAGACAGAAATTATGTCAGCCATCAATCAGGTTTTATAGCTGATATGCCACACAGCTACCATTCTCAGGTTGACTGTTCTCAAAATTCCCATTACTTTTTAAACAAATTTAAAATTCCCTTAAAAGAACTGGATCAAGTCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGTTCAGGAGTTCAAGGCCAGCCTGACC... | benign | 338,732 |
Evaluate if the mutation on chromosome X at position 120543041 in CUL4B (cullin 4B) is benign or pathogenic. Disease name(s) if pathogenic? | benign | ATGGCAATCTGGCTTTAGTGTAAGATTGAAGAAAGGAAAGAAATTTGGGGTTCAAAGTCTTTTTCTACATTTACTGCTTTAAGTGGTAGAGACAGAAATTATGTCAGCCATCAATCAGGTTTTATAGCTGATATGCCACACAGCTACCATTCTCAGGTTGACTGTTCTCAAAATTCCCATTACTTTTTAAACAAATTTAAAATTCCCTTAAAAGAACTGGATCAAGTCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGTTCAGGAGTTCAAGGCCAGCCTGACC... | ATGGCAATCTGGCTTTAGTGTAAGATTGAAGAAAGGAAAGAAATTTGGGGTTCAAAGTCTTTTTCTACATTTACTGCTTTAAGTGGTAGAGACAGAAATTATGTCAGCCATCAATCAGGTTTTATAGCTGATATGCCACACAGCTACCATTCTCAGGTTGACTGTTCTCAAAATTCCCATTACTTTTTAAACAAATTTAAAATTCCCTTAAAAGAACTGGATCAAGTCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGTTCAGGAGTTCAAGGCCAGCCTGACC... | benign | 338,733 |
Variant in CUL4B (cullin 4B), chromosome X, position 120544606—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['X-linked_intellectual_disability_Cabezas_type'] | ACCTTTCCTTACTGAAAGCTTACATATTAAGTCAAGAATTTCCCACTTTTTTTCTTTTATTTTATTTAAAGAGACGAGAGTCTCACTATGTTGCCCAGGCTGACCTCAAACTCCTGGGCTGAAGCAATCCTCCTGCCTCAGCCTCTCAAGTAGCTGATACTACAGGCACATATCAACCACTGTTTTTTTATTGGTATTTGTGGATCCCTCTCTTCTAGTTCCTGTATCTTTCAGATAAGAAAACTGGCACCTCCAGGAAGTTTACTGTGATTAATAAGGATTGTGTCCATCCTCAGAAATGCAGCCACATGCTATCAAAC... | ACCTTTCCTTACTGAAAGCTTACATATTAAGTCAAGAATTTCCCACTTTTTTTCTTTTATTTTATTTAAAGAGACGAGAGTCTCACTATGTTGCCCAGGCTGACCTCAAACTCCTGGGCTGAAGCAATCCTCCTGCCTCAGCCTCTCAAGTAGCTGATACTACAGGCACATATCAACCACTGTTTTTTTATTGGTATTTGTGGATCCCTCTCTTCTAGTTCCTGTATCTTTCAGATAAGAAAACTGGCACCTCCAGGAAGTTTACTGTGATTAATAAGGATTGTGTCCATCCTCAGAAATGCAGCCACATGCTATCAAAC... | pathogenic | 338,739 |
A genetic variant on chromosome X, position 120545526, affects the gene CUL4B (cullin 4B). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TTCTAAATTACCTTCTAAACACACACACACACACACACACACACACACACACACACCCCTAATAATCGAATCCTTGGATGAAAACTAATTAACTAGGGAAAAGAATAACTTGAAGTTTGTATTATGAAAACAACTGTTAACACTTCAAATCACACCTGAAAACAGTTACTAACATGTTTAGGATGGCTAAAGTGCTGCAAGTGATTTAACGACAGTTTAAGACTATTAAATTCAGCATGTGGTACTTACTGGGTGGTCTGATCTAAGTAAGTAATAAGTCTGTCTGCTTCTTCTTCTAGACGTTTGTTAACATGATGTAG... | TTCTAAATTACCTTCTAAACACACACACACACACACACACACACACACACACACACCCCTAATAATCGAATCCTTGGATGAAAACTAATTAACTAGGGAAAAGAATAACTTGAAGTTTGTATTATGAAAACAACTGTTAACACTTCAAATCACACCTGAAAACAGTTACTAACATGTTTAGGATGGCTAAAGTGCTGCAAGTGATTTAACGACAGTTTAAGACTATTAAATTCAGCATGTGGTACTTACTGGGTGGTCTGATCTAAGTAAGTAATAAGTCTGTCTGCTTCTTCTTCTAGACGTTTGTTAACATGATGTAG... | benign | 338,741 |
A genetic alteration at chromosome X, position 120547124, in gene CUL4B (cullin 4B)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GGGGGAAGAGTTCATGATACTATTCTATTTTCGTGTATACATGGACTTTTGCATAATGTTAAATGAGTGAACTCTTGATGGTCAGCAGCAAAATGAATCACAATCATAGACATTCCAGAGCAAACTTTAGTCCCCTCGGCTAACAAAAAACTTCTTCATAAATTAATATATGCCCAGGGAATGTTAGCTATCTTCAATATTAGCATAGGCAACATATTATTAGGAAGATAAAACTGCTACAAAGGAAAGTCTAGAACCAAATGTGAATTTTTAGAATATTCACAGTATAGCTTATACACTTTCATTAGTGTAATTAAGAT... | GGGGGAAGAGTTCATGATACTATTCTATTTTCGTGTATACATGGACTTTTGCATAATGTTAAATGAGTGAACTCTTGATGGTCAGCAGCAAAATGAATCACAATCATAGACATTCCAGAGCAAACTTTAGTCCCCTCGGCTAACAAAAAACTTCTTCATAAATTAATATATGCCCAGGGAATGTTAGCTATCTTCAATATTAGCATAGGCAACATATTATTAGGAAGATAAAACTGCTACAAAGGAAAGTCTAGAACCAAATGTGAATTTTTAGAATATTCACAGTATAGCTTATACACTTTCATTAGTGTAATTAAGAT... | benign | 338,744 |
Variant chromosome X, position 120560261, gene CUL4B: benign or pathogenic? Disease(s)? | benign | AAATGCCATAATACTGTTTAAGTCATTTTGACTCACCTATTAAAATTGAAGGTGAGGTTTTTCTCCTATTGATTGTATTGCTTCAAAAAAATAAAAATTCAAGAATGACCATAAAAAATAACAATCCTGATCTTATTTCATCATGTGTAAAACCTAAGTCGACATGAATTTTTAACCTGAGATTTAAAGTACTGTCTATGTGCAAGGTACTTTATAAGCCTCTTAATCTTCCCAACAATACCCTGAGGAATCTATTTTACAACCGAGGAAACTGAGGCTGGAACTCATTTAGTAAGCTTGCCCAAGGTCATCATAGCTAG... | AAATGCCATAATACTGTTTAAGTCATTTTGACTCACCTATTAAAATTGAAGGTGAGGTTTTTCTCCTATTGATTGTATTGCTTCAAAAAAATAAAAATTCAAGAATGACCATAAAAAATAACAATCCTGATCTTATTTCATCATGTGTAAAACCTAAGTCGACATGAATTTTTAACCTGAGATTTAAAGTACTGTCTATGTGCAAGGTACTTTATAAGCCTCTTAATCTTCCCAACAATACCCTGAGGAATCTATTTTACAACCGAGGAAACTGAGGCTGGAACTCATTTAGTAAGCTTGCCCAAGGTCATCATAGCTAG... | benign | 338,747 |
Variant chromosome X, position 120560261, gene CUL4B: benign or pathogenic? Disease(s)? | benign | AAATGCCATAATACTGTTTAAGTCATTTTGACTCACCTATTAAAATTGAAGGTGAGGTTTTTCTCCTATTGATTGTATTGCTTCAAAAAAATAAAAATTCAAGAATGACCATAAAAAATAACAATCCTGATCTTATTTCATCATGTGTAAAACCTAAGTCGACATGAATTTTTAACCTGAGATTTAAAGTACTGTCTATGTGCAAGGTACTTTATAAGCCTCTTAATCTTCCCAACAATACCCTGAGGAATCTATTTTACAACCGAGGAAACTGAGGCTGGAACTCATTTAGTAAGCTTGCCCAAGGTCATCATAGCTAG... | AAATGCCATAATACTGTTTAAGTCATTTTGACTCACCTATTAAAATTGAAGGTGAGGTTTTTCTCCTATTGATTGTATTGCTTCAAAAAAATAAAAATTCAAGAATGACCATAAAAAATAACAATCCTGATCTTATTTCATCATGTGTAAAACCTAAGTCGACATGAATTTTTAACCTGAGATTTAAAGTACTGTCTATGTGCAAGGTACTTTATAAGCCTCTTAATCTTCCCAACAATACCCTGAGGAATCTATTTTACAACCGAGGAAACTGAGGCTGGAACTCATTTAGTAAGCTTGCCCAAGGTCATCATAGCTAG... | benign | 338,748 |
The chromosome X, position 123184533 genetic variant in gene GRIA3 (glutamate ionotropic receptor AMPA type subunit 3): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TTGCCCTAATGCTTCTTCCACTGAAAAGATGAGTCTCCTCAGACTCTCATGTTTCTCCTTCACTCCTGTCCATGAAATATCAAAATGGAGACAAAAGATTTCTATGAGTGGTGGGTGGGAGGAAATTATGCATTATCAGAATGAATAGAAATTTGGGAAGAGCCTAGGACAATTTTTCTGGTTTGAAGCCATTTTGTTCCATTGTTCCAGGCTCCAGACTACGTCTCGCCAAATCCAAAGTTCTGTAGCAACTGATATACTAGCTGGGCTCCAGGGTCCTTCTATCCCCTGTATATTCCCAATTTTATCCCCGATGTATA... | TTGCCCTAATGCTTCTTCCACTGAAAAGATGAGTCTCCTCAGACTCTCATGTTTCTCCTTCACTCCTGTCCATGAAATATCAAAATGGAGACAAAAGATTTCTATGAGTGGTGGGTGGGAGGAAATTATGCATTATCAGAATGAATAGAAATTTGGGAAGAGCCTAGGACAATTTTTCTGGTTTGAAGCCATTTTGTTCCATTGTTCCAGGCTCCAGACTACGTCTCGCCAAATCCAAAGTTCTGTAGCAACTGATATACTAGCTGGGCTCCAGGGTCCTTCTATCCCCTGTATATTCCCAATTTTATCCCCGATGTATA... | benign | 338,756 |
Does the genetic variant at chromosome X, position 123202748, impacting gene GRIA3 (glutamate ionotropic receptor AMPA type subunit 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | ATTATACCTCAACTTCCTCTAATGCCTACATTCTATCACAGATCTGAACACACAGTAAATATGTAATAAATACTTGCTGACTTTTAGTTTTTCTGGTCTTTTTTGGGATGATCATTATTCCTCCACCGGGTAGGGCAACCAAATTGAGAACATGACTTTCCATCCTCTTTAAAGCACATGTTATATAACTCAACAGGCAGTATAGCAATGGTGGTTATGATCAGAAGCCAGACTCTCTGAGTTCAAATCCTGGATCTATCTCTTTCTTGTTGTATAGCCTTGGGTGAGGAGCTTAACCCCTCTAAATCTCAGTTTTTCTT... | ATTATACCTCAACTTCCTCTAATGCCTACATTCTATCACAGATCTGAACACACAGTAAATATGTAATAAATACTTGCTGACTTTTAGTTTTTCTGGTCTTTTTTGGGATGATCATTATTCCTCCACCGGGTAGGGCAACCAAATTGAGAACATGACTTTCCATCCTCTTTAAAGCACATGTTATATAACTCAACAGGCAGTATAGCAATGGTGGTTATGATCAGAAGCCAGACTCTCTGAGTTCAAATCCTGGATCTATCTCTTTCTTGTTGTATAGCCTTGGGTGAGGAGCTTAACCCCTCTAAATCTCAGTTTTTCTT... | benign | 338,761 |
Benign or pathogenic: chromosome X, position 123417381, gene GRIA3 (glutamate ionotropic receptor AMPA type subunit 3) variant? Disease(s) if pathogenic? | benign | TGGGTTTTAAGAAGCGACAGAGAAATATAGAATGCATGGAATAAGTTGATCAAATCTTAGAAAGTGTCACTTTCTGTGAGATGGAAACACACAGAAGAAATGTATAAAGATGCTGCAATATGTTGACAAAGTTGGGGGAGGGGGAACTGAGATGATAGAGCTTATATCAAATGGCTTCCATCTTCTCAGTAAAGAAAGAGGCAAGATCATCTGCAGAGAGGATAGGACTGATAAGGATTAGGAACTGGGAAAAGTTTGAAATAAGCATCATCCACAGACACAGAGGAGAATCTACTTTTGGGGGGATAGATGGGTTAAAT... | TGGGTTTTAAGAAGCGACAGAGAAATATAGAATGCATGGAATAAGTTGATCAAATCTTAGAAAGTGTCACTTTCTGTGAGATGGAAACACACAGAAGAAATGTATAAAGATGCTGCAATATGTTGACAAAGTTGGGGGAGGGGGAACTGAGATGATAGAGCTTATATCAAATGGCTTCCATCTTCTCAGTAAAGAAAGAGGCAAGATCATCTGCAGAGAGGATAGGACTGATAAGGATTAGGAACTGGGAAAAGTTTGAAATAAGCATCATCCACAGACACAGAGGAGAATCTACTTTTGGGGGGATAGATGGGTTAAAT... | benign | 338,787 |
Variant in THOC2 (THO complex subunit 2), chromosome X, position 123671771—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ATTAGATACATGTAAAGTTAGAACTGTTTTATCTTCCTAGTGAGCACAATCTTGTTATTATGAAGTAGCCCGCTTTATCTCCTTCTGCCAAAAAGTCTATTTTGTCCAACAGTAAGTTTGCTGATCTATTTTCTCATCCTTTTACTATCAACATTTCATTATCCTTAAGTTTAAGCTGTTTCTCATATAAATAATAAACTCATTTTTAATTCCACTTGACAATCTTTGTCATATTAACAGGACCACTCAGTCTGCTTACATTTACTGCTAAATGCAATCATAATGAGTAATAAATCTATCATCAATTTGTACTTTCCACA... | ATTAGATACATGTAAAGTTAGAACTGTTTTATCTTCCTAGTGAGCACAATCTTGTTATTATGAAGTAGCCCGCTTTATCTCCTTCTGCCAAAAAGTCTATTTTGTCCAACAGTAAGTTTGCTGATCTATTTTCTCATCCTTTTACTATCAACATTTCATTATCCTTAAGTTTAAGCTGTTTCTCATATAAATAATAAACTCATTTTTAATTCCACTTGACAATCTTTGTCATATTAACAGGACCACTCAGTCTGCTTACATTTACTGCTAAATGCAATCATAATGAGTAATAAATCTATCATCAATTTGTACTTTCCACA... | benign | 338,804 |
Determine whether the variant at chromosome X, position 123885766, in gene XIAP (X-linked inhibitor of apoptosis) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['X-linked_lymphoproliferative_disease_due_to_XIAP_deficiency'] | ACTCCCGACCTCAGGTGATTTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCATGCCCGGCTGTTTTTTTTAAGACTAGTCAAGTGCAGAGTGAGAAGGGGGGAAAGAGTAGAACAAGGAGTTTGATCAGCCTTGGTTTCTTTGAATCTTGATTTTTGTCATCCAGTTTATTGTGCTGATTCAACAAAGGGCCTTGAAGCTAATGTTGGAATGTTTTCAGACATATAGGAAATGATAATTCATCAAAAGTCATGGAGACTATATTCCAAAAGTTTTATGCAGATATAACTCAGCTGTTGAGGTA... | ACTCCCGACCTCAGGTGATTTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCATGCCCGGCTGTTTTTTTTAAGACTAGTCAAGTGCAGAGTGAGAAGGGGGGAAAGAGTAGAACAAGGAGTTTGATCAGCCTTGGTTTCTTTGAATCTTGATTTTTGTCATCCAGTTTATTGTGCTGATTCAACAAAGGGCCTTGAAGCTAATGTTGGAATGTTTTCAGACATATAGGAAATGATAATTCATCAAAAGTCATGGAGACTATATTCCAAAAGTTTTATGCAGATATAACTCAGCTGTTGAGGTA... | pathogenic | 338,806 |
Does the variant impacting XIAP (X-linked inhibitor of apoptosis) on chromosome X, position 123886048, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['X-linked_lymphoproliferative_disease_due_to_XIAP_deficiency'] | CAAAAGTTTTATGCAGATATAACTCAGCTGTTGAGGTATATGAGTTAATACCACTATAAATTGACATGGCCAGGAAAGACTGAAGTCCATTGCCAGCTTGCTTTGTGTTGAACATTACTCCAAAAGAGATTAAATTTTAAGGCATATTGTGTCAACATAAAGGCAAAAGAGCTGGCTAATTCTTCTCAAGAAATCAATTAATGGCAGGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGAAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACCTGGAGAAACCCCGTCTCTA... | CAAAAGTTTTATGCAGATATAACTCAGCTGTTGAGGTATATGAGTTAATACCACTATAAATTGACATGGCCAGGAAAGACTGAAGTCCATTGCCAGCTTGCTTTGTGTTGAACATTACTCCAAAAGAGATTAAATTTTAAGGCATATTGTGTCAACATAAAGGCAAAAGAGCTGGCTAATTCTTCTCAAGAAATCAATTAATGGCAGGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGAAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACCTGGAGAAACCCCGTCTCTA... | pathogenic | 338,810 |
Variant in gene XIAP (X-linked inhibitor of apoptosis), located at chromosome X position 123888628: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['X-linked_lymphoproliferative_disease_due_to_XIAP_deficiency'] | TGCCAGGGCTCATAAAAAGTAAATAGATGCCCTTAGCCCCCTGAACTGGTAAATATTTAGGTATAACTTGGCATGATTATATATATATCTGTATTATTCCGTGAACTCTTATGTTGAACCTGTAATGTAACTACTGAATTTATGTGAAAAAGACTACCATATTATGAGTCATGCTTCTCTTCATGTAATTGTTTTTAGGAAGTAGATAACTTGCAAAAGATGGTAGACATCCCCAATAGCAAAATGGGTCTAATAGTAATATTAACCATCATTTATTGAGCACTTACTATAAGTGCTCAATACATATACTTCATGCATTT... | TGCCAGGGCTCATAAAAAGTAAATAGATGCCCTTAGCCCCCTGAACTGGTAAATATTTAGGTATAACTTGGCATGATTATATATATATCTGTATTATTCCGTGAACTCTTATGTTGAACCTGTAATGTAACTACTGAATTTATGTGAAAAAGACTACCATATTATGAGTCATGCTTCTCTTCATGTAATTGTTTTTAGGAAGTAGATAACTTGCAAAAGATGGTAGACATCCCCAATAGCAAAATGGGTCTAATAGTAATATTAACCATCATTTATTGAGCACTTACTATAAGTGCTCAATACATATACTTCATGCATTT... | pathogenic | 338,813 |
Evaluate if the mutation on chromosome X at position 123891244 in XIAP (X-linked inhibitor of apoptosis) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['X-linked_lymphoproliferative_disease_due_to_XIAP_deficiency'] | TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACAACAGGCAAGTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTCTGGCTAATTTTTGTATTTTTTAGTAGAGACAGGGTATCACCATGTTGGCCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCGGCCCGCCTCGGCCTCCCAAAGTGTTGGCATTACAGGTGTGAGCCACTGCGCCTGGCCTCTAGATTAT... | TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACAACAGGCAAGTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTCTGGCTAATTTTTGTATTTTTTAGTAGAGACAGGGTATCACCATGTTGGCCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCGGCCCGCCTCGGCCTCCCAAAGTGTTGGCATTACAGGTGTGAGCCACTGCGCCTGGCCTCTAGATTAT... | pathogenic | 338,817 |
Variant at chromosome position 124051393, chromosome X, gene STAG2 (STAG2 cohesin complex component): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic | TTAATTGCCTTTGGATGCACTATGTTAGTAGAGCCTGCACGTGCTGACTCCTGACTCTCTTCCCTTCCATTGAATATCAGTGGGAACAATTGGATAGGTTAAAGTGAGATATTTTCTTTTGCTGTTTTGAATGAACAGAGGAAAGAAATAGTAATCTTATAAATTTATGCTGTAACCTATTCTTAAATTTTGGTAGTATTTTTATTCAGCTTCCACATATCCTCAACTTGGCAGTTACTGAATCAGGTTAATGCTTACTTTTTGTAATGTCTCCATGTCCATTCTTACCTTTTCACTTCTATTGTCACCATTACCTTAGT... | TTAATTGCCTTTGGATGCACTATGTTAGTAGAGCCTGCACGTGCTGACTCCTGACTCTCTTCCCTTCCATTGAATATCAGTGGGAACAATTGGATAGGTTAAAGTGAGATATTTTCTTTTGCTGTTTTGAATGAACAGAGGAAAGAAATAGTAATCTTATAAATTTATGCTGTAACCTATTCTTAAATTTTGGTAGTATTTTTATTCAGCTTCCACATATCCTCAACTTGGCAGTTACTGAATCAGGTTAATGCTTACTTTTTGTAATGTCTCCATGTCCATTCTTACCTTTTCACTTCTATTGTCACCATTACCTTAGT... | pathogenic | 338,854 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 124061743, gene STAG2 (STAG2 cohesin complex component): what disease(s) if pathogenic? | benign | CTGTCACTCAGCCTGAAGTGCAGTGGCGTAATCATAGCTCATTGCAGCCTTGAACTTGTGGGTTCAGTTGATCCTCTTGCCTCAGCCTCCCTAGTAGCTCCGACTACAACTTCGTGCCACCACACCCAGCTAGTTTATTTTAGAATTTTGTAGACAGTAGGGGTGTCTTGTGTCCCAGGCTAGTCTTCAACTCTTGGGCCCAAGCAGTCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAACCACAGCACGTGGCCCGGTTTGCCAGTTTTTGAGGGCATTCCCTCTATGTTCATAAAGGATTTAGATT... | CTGTCACTCAGCCTGAAGTGCAGTGGCGTAATCATAGCTCATTGCAGCCTTGAACTTGTGGGTTCAGTTGATCCTCTTGCCTCAGCCTCCCTAGTAGCTCCGACTACAACTTCGTGCCACCACACCCAGCTAGTTTATTTTAGAATTTTGTAGACAGTAGGGGTGTCTTGTGTCCCAGGCTAGTCTTCAACTCTTGGGCCCAAGCAGTCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAACCACAGCACGTGGCCCGGTTTGCCAGTTTTTGAGGGCATTCCCTCTATGTTCATAAAGGATTTAGATT... | benign | 338,857 |
Assess the variant on chromosome X, position 124100555, impacting STAG2 (STAG2 cohesin complex component): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TCTGTTCTTACTGAAGCCCATAATACCGGAGTCATCTAAACAGTAGCAAAATTGGGATTTAAATTCTTTAATGTCCAGTTCTGAGATTCTCCAATTCTAAGGGAAGTAACTCAAAGCACCCTAATGTAGACACTTCAGTTTGTTACTAAATAAATTGTAAAAATATCTTTTTAAACACTTAATTTTTAAACATGATTTTCTAAATAAATCATAAAAAATATCTTTTTAAACACTTAATTTTTAAACAAGATTTTCTAAATAAATCGTAAAAATATCTTTTTAAACATGATTTTCACATTATCCAGGAGTGGTAATATAAA... | TCTGTTCTTACTGAAGCCCATAATACCGGAGTCATCTAAACAGTAGCAAAATTGGGATTTAAATTCTTTAATGTCCAGTTCTGAGATTCTCCAATTCTAAGGGAAGTAACTCAAAGCACCCTAATGTAGACACTTCAGTTTGTTACTAAATAAATTGTAAAAATATCTTTTTAAACACTTAATTTTTAAACATGATTTTCTAAATAAATCATAAAAAATATCTTTTTAAACACTTAATTTTTAAACAAGATTTTCTAAATAAATCGTAAAAATATCTTTTTAAACATGATTTTCACATTATCCAGGAGTGGTAATATAAA... | benign | 338,871 |
Classify the chromosome X variant at position 124371315 affecting gene SH2D1A (SH2 domain containing 1A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TGCTCATAGCAATACTATTTTATTTTACGTAAAATGACAGGTTTGAGCTGATGCCTGAAGCTTGGCTCATAAGCTTTTGCAGGAAATTGTTGTTGATTTCAGGCAGTGTCTTTGCAAGACAACTGATGTCAGGAAAGGAACACATTTTAATAGTCACCTGCAAATAACTGTCTCTTTAAAAACACACAAATAAATAAATAAAGGTGACCTTATATAGTCTTTCATTTTCATGTCATAGAGAAAACCTTGTTACAGTGACGTGCTGATGGAGAGAACAATTTTGGGAGTATAGGGAAGTTTCCCAAGGAGGAAAAAATTTA... | TGCTCATAGCAATACTATTTTATTTTACGTAAAATGACAGGTTTGAGCTGATGCCTGAAGCTTGGCTCATAAGCTTTTGCAGGAAATTGTTGTTGATTTCAGGCAGTGTCTTTGCAAGACAACTGATGTCAGGAAAGGAACACATTTTAATAGTCACCTGCAAATAACTGTCTCTTTAAAAACACACAAATAAATAAATAAAGGTGACCTTATATAGTCTTTCATTTTCATGTCATAGAGAAAACCTTGTTACAGTGACGTGCTGATGGAGAGAACAATTTTGGGAGTATAGGGAAGTTTCCCAAGGAGGAAAAAATTTA... | benign | 338,885 |
Evaluate if the mutation on chromosome X at position 129540654 in OCRL (OCRL inositol polyphosphate-5-phosphatase) is benign or pathogenic. Disease name(s) if pathogenic? | benign | AGTGTGCCTGGCAAGTCCTAGCAACAACAAGGAGTCAGTGTGACTAAGCAAAGCTAGTTAGGGAGAGTGGTGGGAAATGGTGGGAGATGTCCGAAAGGTGATGACAGCTTGTCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCACAGCTCACTGTAGATGTGACCTCGCTGGCTCAAGGGGATGCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAAGCACTTGCCACCACATCCAGCTAATTTTTATAGTTTTTGTAGAGACAGGGTTTTGCCAC... | AGTGTGCCTGGCAAGTCCTAGCAACAACAAGGAGTCAGTGTGACTAAGCAAAGCTAGTTAGGGAGAGTGGTGGGAAATGGTGGGAGATGTCCGAAAGGTGATGACAGCTTGTCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCACAGCTCACTGTAGATGTGACCTCGCTGGCTCAAGGGGATGCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAAGCACTTGCCACCACATCCAGCTAATTTTTATAGTTTTTGTAGAGACAGGGTTTTGCCAC... | benign | 338,912 |
The mutation impacting OCRL (OCRL inositol polyphosphate-5-phosphatase) on chromosome X at position 129548544: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CATGTGTTAAGAATTAAAAATAACTTCAATGAATAGTGTCCATATTTGTATGGAAGAATGAAGTGATAGCTATTTAGCCTGCCCTATGTGAGAGAGACATACTAAACAAGGTAGCCACGTTCCATAGTAAGTTGCTGTGGCCACCTCACTTTTCAAGGTGTAGGCCTTCACAGAGGGGAAGAGCCAAAGAACATGACTTTAAATTAATATCCTATTAGCTTTGTACCTTTTTACTCTACCTCTAGGATCTCTTTTACCCTGTTTCTCTTAGTATTTTTAATAAGAAATCAATTGCTGATTGTTAGATCGTAGTGCTGCTT... | CATGTGTTAAGAATTAAAAATAACTTCAATGAATAGTGTCCATATTTGTATGGAAGAATGAAGTGATAGCTATTTAGCCTGCCCTATGTGAGAGAGACATACTAAACAAGGTAGCCACGTTCCATAGTAAGTTGCTGTGGCCACCTCACTTTTCAAGGTGTAGGCCTTCACAGAGGGGAAGAGCCAAAGAACATGACTTTAAATTAATATCCTATTAGCTTTGTACCTTTTTACTCTACCTCTAGGATCTCTTTTACCCTGTTTCTCTTAGTATTTTTAATAAGAAATCAATTGCTGATTGTTAGATCGTAGTGCTGCTT... | benign | 338,920 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 129567336, gene OCRL (OCRL inositol polyphosphate-5-phosphatase): what disease(s) if pathogenic? | pathogenic; ['Lowe_syndrome'] | CTTCACTAGAGAGCCCTGGACCTACTTTTCTTAGTGGGTCCTGCCTCGGAGAGCTGTCACTCAGACCATGCAGACTTCAGTGGAGAACCTGCAGGACTTCAGGACTCTGAGAGGCAGAAAACGTTCAGATTCTCTTCCCCTAAAGACCTGGCTAGCAGCCAGGCAAAATTTTGAAGCTTGTCCAGCAAATAAACTGCATGCTTCTCAGTCCATTAACTCCTTGGCTTCTAAATCCCATACGTAATATTTCCCAGTTTCATTCTTCATGTACAGAGTCCTCTTCTCCTACCTATTTTGTAATCCATTGTCTCTCTCAGGTG... | CTTCACTAGAGAGCCCTGGACCTACTTTTCTTAGTGGGTCCTGCCTCGGAGAGCTGTCACTCAGACCATGCAGACTTCAGTGGAGAACCTGCAGGACTTCAGGACTCTGAGAGGCAGAAAACGTTCAGATTCTCTTCCCCTAAAGACCTGGCTAGCAGCCAGGCAAAATTTTGAAGCTTGTCCAGCAAATAAACTGCATGCTTCTCAGTCCATTAACTCCTTGGCTTCTAAATCCCATACGTAATATTTCCCAGTTTCATTCTTCATGTACAGAGTCCTCTTCTCCTACCTATTTTGTAATCCATTGTCTCTCTCAGGTG... | pathogenic | 338,944 |
Variant chromosome X, position 129588226, gene OCRL (OCRL inositol polyphosphate-5-phosphatase): benign or pathogenic? Disease(s)? | pathogenic; ['Lowe_syndrome'] | AGTGATTGATTTGATTTATGTCACTTCTGGGTTTTTCTCTTACAAAATTCTTTCAGAAGAATATAACAGATAGTAGAAAGATAGATGAAAGGAGTAAAAGCCCCTAGAAATCTTGGCTGAGCTATTCCTAGAAACTGTAACTTCTGGACTCAGACCTTAAACTTTTCGTGGTATTTCTGCCTCTTGGTTAGCTGTATTCAGTTTACTATTTTTGGACCTTAAGGCTTACGAGTTTTAGCACCTTAAGATTAGAACTTCCATCAAGCCTGAAGTATTTACATATGTGGGTCTAATGTTGTGGAGAGTTGTCTTTAATTCCT... | AGTGATTGATTTGATTTATGTCACTTCTGGGTTTTTCTCTTACAAAATTCTTTCAGAAGAATATAACAGATAGTAGAAAGATAGATGAAAGGAGTAAAAGCCCCTAGAAATCTTGGCTGAGCTATTCCTAGAAACTGTAACTTCTGGACTCAGACCTTAAACTTTTCGTGGTATTTCTGCCTCTTGGTTAGCTGTATTCAGTTTACTATTTTTGGACCTTAAGGCTTACGAGTTTTAGCACCTTAAGATTAGAACTTCCATCAAGCCTGAAGTATTTACATATGTGGGTCTAATGTTGTGGAGAGTTGTCTTTAATTCCT... | pathogenic | 338,967 |
Classify the chromosome X variant at position 129588901 affecting gene OCRL (OCRL inositol polyphosphate-5-phosphatase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Lowe_syndrome'] | CAGGAGTGTCCCCAGTGAGAAGAAATGGAAAATCTTAAGAGATGAAGATCACATTTTACCTGCATGACCAGAATTTGAAGGACTTTAAGTTATACACCAAAGTCTTTATTCTGAGACCCCTTTGATTCTCATACTTTTCCATCTATTAGGAGAAATCCCTTCTGCAAATGGTTCCTTTGGATGAAGGTGCCAGTGAGAGACCCCTTCAGGTTCCCAAGGAGATCTGGCTTCTAGTAGATCACCTATTCAAATACGCCTGTCACCAGGTAAGTGAGAGTAGACCTTCCCTACAACTTTGGAAGGTGTGTAACTACTATAGG... | CAGGAGTGTCCCCAGTGAGAAGAAATGGAAAATCTTAAGAGATGAAGATCACATTTTACCTGCATGACCAGAATTTGAAGGACTTTAAGTTATACACCAAAGTCTTTATTCTGAGACCCCTTTGATTCTCATACTTTTCCATCTATTAGGAGAAATCCCTTCTGCAAATGGTTCCTTTGGATGAAGGTGCCAGTGAGAGACCCCTTCAGGTTCCCAAGGAGATCTGGCTTCTAGTAGATCACCTATTCAAATACGCCTGTCACCAGGTAAGTGAGAGTAGACCTTCCCTACAACTTTGGAAGGTGTGTAACTACTATAGG... | pathogenic | 338,969 |
Is the genetic mutation found on chromosome X at position 129823664, within the gene ZDHHC9 (zDHHC palmitoyltransferase 9), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CTGCTTCACTTAAAATGGGTTTCGACAGCCGGGTGTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCTAGGTGGGTGGATCACAAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGTGCACCTGTAATACCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACACAGTGAGACTCCATCTCAAAAAATAAATAAA... | CTGCTTCACTTAAAATGGGTTTCGACAGCCGGGTGTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCTAGGTGGGTGGATCACAAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGTGCACCTGTAATACCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACACAGTGAGACTCCATCTCAAAAAATAAATAAA... | benign | 338,997 |
Is the variant located on chromosome X at position 129829041, gene ZDHHC9 (zDHHC palmitoyltransferase 9), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Syndromic_X-linked_intellectual_disability_Raymond_type'] | AGACTAGCCTGGCCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCTGGGAGTGGTGGCGGGTGCCCATAATCCCAGCTACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGTGGGGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCGTGGGGGACAGAGTGAAACTGTGAAAAATAAAAAAGAAGAAAGGAAGGAAAAATAAAAAAGAAGAAAGGAAGGAAAGGAAGGAAAAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAAG... | AGACTAGCCTGGCCAATATGGTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCTGGGAGTGGTGGCGGGTGCCCATAATCCCAGCTACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGTGGGGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCGTGGGGGACAGAGTGAAACTGTGAAAAATAAAAAAGAAGAAAGGAAGGAAAAATAAAAAAGAAGAAAGGAAGGAAAGGAAGGAAAAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAAG... | pathogenic | 339,003 |
Variant in AIFM1, chromosome X, position 130131801—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | CTACTAACCCCAAACAAGCAGCCTGCCAACTCCCAGGTCACCCAGCCAAGTCCCAAGTGAAAAAGAATGTTCCTGAGCCAAGGCTATACCTTTGTTCTGCTCAGGCACAATTTGACCTGGCCGGGGGACAATGCATCTCAGGGCACCCGATGAAGTTACAGGAATGTTTCTAAGCCGTACTTCCCATCTTCCTCTAAGAGTTATGACAGGCACCTACCTTCCTTGCTATTGGCATTCGGTTAAAGATGTTCCATAGCACAATCCCCACGACCACTTTGTCCCTGAGGTAGAAGATGACACCTTTGCCGTAGTCCTCCCCC... | CTACTAACCCCAAACAAGCAGCCTGCCAACTCCCAGGTCACCCAGCCAAGTCCCAAGTGAAAAAGAATGTTCCTGAGCCAAGGCTATACCTTTGTTCTGCTCAGGCACAATTTGACCTGGCCGGGGGACAATGCATCTCAGGGCACCCGATGAAGTTACAGGAATGTTTCTAAGCCGTACTTCCCATCTTCCTCTAAGAGTTATGACAGGCACCTACCTTCCTTGCTATTGGCATTCGGTTAAAGATGTTCCATAGCACAATCCCCACGACCACTTTGTCCCTGAGGTAGAAGATGACACCTTTGCCGTAGTCCTCCCCC... | benign | 339,039 |
Clinical significance of chromosome X, position 130149544, gene AIFM1: benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTCTCTTTTCCATTCCACTGTTTGAATCGCAGTGTCTTTGTGACATTTGGGTCATCTGAAAACCACAGTTCTTTTGAAAGAGGAGGTCGCATGTACGGCAGCTCAGGATCTTCAGATACAATCAGTACCTTCAGACATAAAAATCATGACGCTTATCAGAGCCAAGTCATTTAAGGGGCAAATGTCAAAGCATTCACATTAGCTAAATGCTTGCAGACTGTACCCTCTGTGCCAAGCAAAAAAACATGCACCTTACCCTGGCCCCAGGATCCCGAGCCCGGATGGATCTGGCTGCAGCAAAAGCAGCTGTGCCTCCACCA... | CTCTCTTTTCCATTCCACTGTTTGAATCGCAGTGTCTTTGTGACATTTGGGTCATCTGAAAACCACAGTTCTTTTGAAAGAGGAGGTCGCATGTACGGCAGCTCAGGATCTTCAGATACAATCAGTACCTTCAGACATAAAAATCATGACGCTTATCAGAGCCAAGTCATTTAAGGGGCAAATGTCAAAGCATTCACATTAGCTAAATGCTTGCAGACTGTACCCTCTGTGCCAAGCAAAAAAACATGCACCTTACCCTGGCCCCAGGATCCCGAGCCCGGATGGATCTGGCTGCAGCAAAAGCAGCTGTGCCTCCACCA... | benign | 339,081 |
Mutation found at chromosome X position 131277139, gene IGSF1 (immunoglobulin superfamily member 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['X-linked_central_congenital_hypothyroidism_with_late-onset_testicular_enlargement'] | TCACCTCTCACTGCTGGCATCCAGAAGTCAGCCCTGTACCCACTTGGCCTCTGTTGCTCTAAAGGCTCCTGAGCCCCCTCCTTCAACAGGACAAATGTTGAGTCTGGCAGTTCCCCTTGACACTGAAGAGTCATATTTTCGCCAGGGGCCACCATGGGACCAGGCTGGGCTAATAGGCTGGGTTTGGGGAGTAAGCCTGGAAGAAATGAACTCCTGGTCAAAGAGAAGAGGTCACTTTCCAGTGCATCACCCCTGGGGTCTCTGCTCAATAAAGAGGAAAGGCAATTGGTTGCCTCTCCTCGAGCTCTCTGAAAACTATC... | TCACCTCTCACTGCTGGCATCCAGAAGTCAGCCCTGTACCCACTTGGCCTCTGTTGCTCTAAAGGCTCCTGAGCCCCCTCCTTCAACAGGACAAATGTTGAGTCTGGCAGTTCCCCTTGACACTGAAGAGTCATATTTTCGCCAGGGGCCACCATGGGACCAGGCTGGGCTAATAGGCTGGGTTTGGGGAGTAAGCCTGGAAGAAATGAACTCCTGGTCAAAGAGAAGAGGTCACTTTCCAGTGCATCACCCCTGGGGTCTCTGCTCAATAAAGAGGAAAGGCAATTGGTTGCCTCTCCTCGAGCTCTCTGAAAACTATC... | pathogenic | 339,107 |
A genetic variant at chromosome X, position 131278665, affecting gene IGSF1 (immunoglobulin superfamily member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Inborn_genetic_diseases', 'X-linked_central_congenital_hypothyroidism_with_late-onset_testicular_enlargement'] | TTGAGCCTAAAGCTCAATGCCAAGCCATAAAAATGTGCAGAAATAGGGCAAGTTGAACCGAGCTCTTGGGATTAGACACCCCCATCTACCTCATTTATTTCCCCAGAAGTGAATTGCTTGCCTCCCCACTGCCTTTGTTTCTTGTTCCTGTAATAATAACATGAGCAGCTGTGCATCATGGACTGGTCACTATGGGCCAGCCGCTGTCCTAAGCACGTTCTCAGTGTGTTTTAGAAGAAACATTTCTTCCTCTCCCACTGACAGCCTTCCACCCACCATCCCAGGGTTGGCACCACCTCTACCTGGAGTCCCCCCTCCTA... | TTGAGCCTAAAGCTCAATGCCAAGCCATAAAAATGTGCAGAAATAGGGCAAGTTGAACCGAGCTCTTGGGATTAGACACCCCCATCTACCTCATTTATTTCCCCAGAAGTGAATTGCTTGCCTCCCCACTGCCTTTGTTTCTTGTTCCTGTAATAATAACATGAGCAGCTGTGCATCATGGACTGGTCACTATGGGCCAGCCGCTGTCCTAAGCACGTTCTCAGTGTGTTTTAGAAGAAACATTTCTTCCTCTCCCACTGACAGCCTTCCACCCACCATCCCAGGGTTGGCACCACCTCTACCTGGAGTCCCCCCTCCTA... | pathogenic | 339,110 |
The genetic variant at chromosome X, position 132078646, affecting gene FRMD7 (FERM domain containing 7): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic | CATTAGTTTTTTCTCCTTTAAGTTATATATAAAAATAGCTTGCCTATAGAATTGCCTCCTTTCTTTGAAGTTAGTAGTAACATTATCTTGTAAATATGTTGGACTTTAAAATCAAACAAAATAAACTTCTCAAATAGAATGCTATACCTTCTAGGAGGACCATTAGAGAAGTTCTGAATGGGTCAAAAATGGAATTTTGGTTCATTAACTCACCCTGGTATTAGTACCATCCTTCTTTGTTTCAGCTACCCTTCAATTCTACTACTTTTCCTCTCCCTGACCATACATTTTCACTTGCCTCCCTCCTTTTCCATGTTCTG... | CATTAGTTTTTTCTCCTTTAAGTTATATATAAAAATAGCTTGCCTATAGAATTGCCTCCTTTCTTTGAAGTTAGTAGTAACATTATCTTGTAAATATGTTGGACTTTAAAATCAAACAAAATAAACTTCTCAAATAGAATGCTATACCTTCTAGGAGGACCATTAGAGAAGTTCTGAATGGGTCAAAAATGGAATTTTGGTTCATTAACTCACCCTGGTATTAGTACCATCCTTCTTTGTTTCAGCTACCCTTCAATTCTACTACTTTTCCTCTCCCTGACCATACATTTTCACTTGCCTCCCTCCTTTTCCATGTTCTG... | pathogenic | 339,133 |
Is the genetic mutation found on chromosome X at position 133324550, within the gene GPC4 (glypican 4), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTGAGCGGAGATCTCGCCACTGCACTCAAGCCTGGGCGACAGAGTGAGACTCTATCAAAAAAAAAAAAAGTGACACCTGTTGTCTGTGAATAATTTGTTAATAAGCACCTCCCGATTTAGACAGTAAGTGTCCTGTTTGGATAAAAAATTATATGGTCACCCTAACTGTAGATAAACTGTGAGAGGCAATCAGGTGTCTATTTTCATGTTTGTAGTGCTGTCCAGTTTTTATGCTGTCCATTCTTCCAGTCCTCAAAACAACCAAATGGCCTCAGCAGAATCTGCTGTTGTTGTGCATCCAGGCTTTTTAGCAATGGCCT... | GTGAGCGGAGATCTCGCCACTGCACTCAAGCCTGGGCGACAGAGTGAGACTCTATCAAAAAAAAAAAAAGTGACACCTGTTGTCTGTGAATAATTTGTTAATAAGCACCTCCCGATTTAGACAGTAAGTGTCCTGTTTGGATAAAAAATTATATGGTCACCCTAACTGTAGATAAACTGTGAGAGGCAATCAGGTGTCTATTTTCATGTTTGTAGTGCTGTCCAGTTTTTATGCTGTCCATTCTTCCAGTCCTCAAAACAACCAAATGGCCTCAGCAGAATCTGCTGTTGTTGTGCATCCAGGCTTTTTAGCAATGGCCT... | benign | 339,170 |
The mutation in gene GPC3 (glypican 3) at chromosome X, position 133536296—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CAGAAGTATGTTGGTGACAGCAGGAGAAGGAGTGCAATAACTTGTGAGAAATTACACATTCTGCTTCCCACATGGTGACCCCCTGCCATGGGACCGAAATCGGAGATCCTGACTAGGACCACCTCGTAGAATCAAAGGGGACTTCCCCGTCCATTCCTTGACCTTTGCTCACACCCCTTCAGTGCATCTCACCCTCTCTTTCTTATATTTATCAGGTGGAAGTTGAGTCCTCCCCCTTTAGAAAGAATCAATGTCTCTATTGACCTGACCTGGCAACAGGGCAATGTGCTAAGCATTATACACATTACAAAAATGGCAGG... | CAGAAGTATGTTGGTGACAGCAGGAGAAGGAGTGCAATAACTTGTGAGAAATTACACATTCTGCTTCCCACATGGTGACCCCCTGCCATGGGACCGAAATCGGAGATCCTGACTAGGACCACCTCGTAGAATCAAAGGGGACTTCCCCGTCCATTCCTTGACCTTTGCTCACACCCCTTCAGTGCATCTCACCCTCTCTTTCTTATATTTATCAGGTGGAAGTTGAGTCCTCCCCCTTTAGAAAGAATCAATGTCTCTATTGACCTGACCTGGCAACAGGGCAATGTGCTAAGCATTATACACATTACAAAAATGGCAGG... | benign | 339,180 |
Gene mutation in GPC3 (glypican 3) at chromosome X, position 133754180—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TGTTGGGATTACAGGCTTAAGCCACAGCACCTGGCCACATATATTTCAAAGTAGCTAGAAAAGAAGAATTTGAATGTTTCTAGCATAAAGACAAATATTTAGGTGATAGATACCCCAATTATATTGATTTGACCTTTACAAATTGTATGAATGTATTAAACTATCACATGTCCCCTGAAAATACGTACACATATTGTATATCAATGAAAAATAATTAGCAGAAAGCAGAAATAGAATATTTCTAAAACAGAAAAATAAAACAAAACCCAGCTTTTAGGTTTATTAAGACTGATTTCATGGGTTACTATGAAATGATATTA... | TGTTGGGATTACAGGCTTAAGCCACAGCACCTGGCCACATATATTTCAAAGTAGCTAGAAAAGAAGAATTTGAATGTTTCTAGCATAAAGACAAATATTTAGGTGATAGATACCCCAATTATATTGATTTGACCTTTACAAATTGTATGAATGTATTAAACTATCACATGTCCCCTGAAAATACGTACACATATTGTATATCAATGAAAAATAATTAGCAGAAAGCAGAAATAGAATATTTCTAAAACAGAAAAATAAAACAAAACCCAGCTTTTAGGTTTATTAAGACTGATTTCATGGGTTACTATGAAATGATATTA... | benign | 339,227 |
Gene mutation in GPC3 (glypican 3) at chromosome X, position 133754180—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TGTTGGGATTACAGGCTTAAGCCACAGCACCTGGCCACATATATTTCAAAGTAGCTAGAAAAGAAGAATTTGAATGTTTCTAGCATAAAGACAAATATTTAGGTGATAGATACCCCAATTATATTGATTTGACCTTTACAAATTGTATGAATGTATTAAACTATCACATGTCCCCTGAAAATACGTACACATATTGTATATCAATGAAAAATAATTAGCAGAAAGCAGAAATAGAATATTTCTAAAACAGAAAAATAAAACAAAACCCAGCTTTTAGGTTTATTAAGACTGATTTCATGGGTTACTATGAAATGATATTA... | TGTTGGGATTACAGGCTTAAGCCACAGCACCTGGCCACATATATTTCAAAGTAGCTAGAAAAGAAGAATTTGAATGTTTCTAGCATAAAGACAAATATTTAGGTGATAGATACCCCAATTATATTGATTTGACCTTTACAAATTGTATGAATGTATTAAACTATCACATGTCCCCTGAAAATACGTACACATATTGTATATCAATGAAAAATAATTAGCAGAAAGCAGAAATAGAATATTTCTAAAACAGAAAAATAAAACAAAACCCAGCTTTTAGGTTTATTAAGACTGATTTCATGGGTTACTATGAAATGATATTA... | benign | 339,228 |
Variant at chromosome position 133754180, chromosome X, gene GPC3 (glypican 3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TGTTGGGATTACAGGCTTAAGCCACAGCACCTGGCCACATATATTTCAAAGTAGCTAGAAAAGAAGAATTTGAATGTTTCTAGCATAAAGACAAATATTTAGGTGATAGATACCCCAATTATATTGATTTGACCTTTACAAATTGTATGAATGTATTAAACTATCACATGTCCCCTGAAAATACGTACACATATTGTATATCAATGAAAAATAATTAGCAGAAAGCAGAAATAGAATATTTCTAAAACAGAAAAATAAAACAAAACCCAGCTTTTAGGTTTATTAAGACTGATTTCATGGGTTACTATGAAATGATATTA... | TGTTGGGATTACAGGCTTAAGCCACAGCACCTGGCCACATATATTTCAAAGTAGCTAGAAAAGAAGAATTTGAATGTTTCTAGCATAAAGACAAATATTTAGGTGATAGATACCCCAATTATATTGATTTGACCTTTACAAATTGTATGAATGTATTAAACTATCACATGTCCCCTGAAAATACGTACACATATTGTATATCAATGAAAAATAATTAGCAGAAAGCAGAAATAGAATATTTCTAAAACAGAAAAATAAAACAAAACCCAGCTTTTAGGTTTATTAAGACTGATTTCATGGGTTACTATGAAATGATATTA... | benign | 339,229 |
Variant chromosome X, position 133754180, gene GPC3 (glypican 3): benign or pathogenic? Disease(s)? | benign | TGTTGGGATTACAGGCTTAAGCCACAGCACCTGGCCACATATATTTCAAAGTAGCTAGAAAAGAAGAATTTGAATGTTTCTAGCATAAAGACAAATATTTAGGTGATAGATACCCCAATTATATTGATTTGACCTTTACAAATTGTATGAATGTATTAAACTATCACATGTCCCCTGAAAATACGTACACATATTGTATATCAATGAAAAATAATTAGCAGAAAGCAGAAATAGAATATTTCTAAAACAGAAAAATAAAACAAAACCCAGCTTTTAGGTTTATTAAGACTGATTTCATGGGTTACTATGAAATGATATTA... | TGTTGGGATTACAGGCTTAAGCCACAGCACCTGGCCACATATATTTCAAAGTAGCTAGAAAAGAAGAATTTGAATGTTTCTAGCATAAAGACAAATATTTAGGTGATAGATACCCCAATTATATTGATTTGACCTTTACAAATTGTATGAATGTATTAAACTATCACATGTCCCCTGAAAATACGTACACATATTGTATATCAATGAAAAATAATTAGCAGAAAGCAGAAATAGAATATTTCTAAAACAGAAAAATAAAACAAAACCCAGCTTTTAGGTTTATTAAGACTGATTTCATGGGTTACTATGAAATGATATTA... | benign | 339,230 |
Regarding the variant at chromosome X and position 133754180, affecting gene GPC3 (glypican 3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TGTTGGGATTACAGGCTTAAGCCACAGCACCTGGCCACATATATTTCAAAGTAGCTAGAAAAGAAGAATTTGAATGTTTCTAGCATAAAGACAAATATTTAGGTGATAGATACCCCAATTATATTGATTTGACCTTTACAAATTGTATGAATGTATTAAACTATCACATGTCCCCTGAAAATACGTACACATATTGTATATCAATGAAAAATAATTAGCAGAAAGCAGAAATAGAATATTTCTAAAACAGAAAAATAAAACAAAACCCAGCTTTTAGGTTTATTAAGACTGATTTCATGGGTTACTATGAAATGATATTA... | TGTTGGGATTACAGGCTTAAGCCACAGCACCTGGCCACATATATTTCAAAGTAGCTAGAAAAGAAGAATTTGAATGTTTCTAGCATAAAGACAAATATTTAGGTGATAGATACCCCAATTATATTGATTTGACCTTTACAAATTGTATGAATGTATTAAACTATCACATGTCCCCTGAAAATACGTACACATATTGTATATCAATGAAAAATAATTAGCAGAAAGCAGAAATAGAATATTTCTAAAACAGAAAAATAAAACAAAACCCAGCTTTTAGGTTTATTAAGACTGATTTCATGGGTTACTATGAAATGATATTA... | benign | 339,231 |
Clinically, how would you classify the variant at chromosome X, position 133953115, gene GPC3 (glypican 3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Simpson-Golabi-Behmel_syndrome_type_1', 'Wilms_tumor_1'] | TGTGTGTGTGTGTGTGTGTGTGTGTGTGAAGTGAAAGAGAGACAGAGAGAAAGGGAGAGAGAGATACAATTAGTAGATGCTGCCCCCATTTTCTACCCTCTGTTCACATGACTAGTATTCAGCCTCCAAGCTATAGCAGGCTTATCTGGAAGCTAATCCAACCAAAATCTTGTCAGAACTTTTTTTCTCTCCTAGTCTCACATTTTTGCAGATCTAGAAAACACAGTGGGCAAAGTGCAGAACTGGACAGAGGTGTAAATGCTGACGACCCGGGCCCTCAGATACATAGCCATGTCAGCTACTGTAAATGTTAAAATGCC... | TGTGTGTGTGTGTGTGTGTGTGTGTGTGAAGTGAAAGAGAGACAGAGAGAAAGGGAGAGAGAGATACAATTAGTAGATGCTGCCCCCATTTTCTACCCTCTGTTCACATGACTAGTATTCAGCCTCCAAGCTATAGCAGGCTTATCTGGAAGCTAATCCAACCAAAATCTTGTCAGAACTTTTTTTCTCTCCTAGTCTCACATTTTTGCAGATCTAGAAAACACAGTGGGCAAAGTGCAGAACTGGACAGAGGTGTAAATGCTGACGACCCGGGCCCTCAGATACATAGCCATGTCAGCTACTGTAAATGTTAAAATGCC... | pathogenic | 339,233 |
Gene PHF6 (PHD finger protein 6) variant at chromosome position 134377990 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CGGTTTATAGCCAGTGCTATGAATACAGTACTATGGTAAAGTATCCGTTGTCATTTGGACGACTGAGATATTTAAAATTATAGATAGCATTAAGAGTTTGTTAAACCTATCAAAGCAGAGACTGTCAGGGCCTTTGAAGTTGTGTTAAAAAGAAAATTCTAGACATAAATGGATGAGAAGACATGTTTTCTTTGTGGCTTCAGGTGAAATTTTGATTAAGTATCTGAATTTTATATTGAAAAGCACTGAATAGTTTGTAGATATTACCTTCCTAGCATACAGCTGCTACTGTTCTTGTTGGTGAACGAATGCTTCTCAGC... | CGGTTTATAGCCAGTGCTATGAATACAGTACTATGGTAAAGTATCCGTTGTCATTTGGACGACTGAGATATTTAAAATTATAGATAGCATTAAGAGTTTGTTAAACCTATCAAAGCAGAGACTGTCAGGGCCTTTGAAGTTGTGTTAAAAAGAAAATTCTAGACATAAATGGATGAGAAGACATGTTTTCTTTGTGGCTTCAGGTGAAATTTTGATTAAGTATCTGAATTTTATATTGAAAAGCACTGAATAGTTTGTAGATATTACCTTCCTAGCATACAGCTGCTACTGTTCTTGTTGGTGAACGAATGCTTCTCAGC... | benign | 339,245 |
The chromosome X, position 134475252 genetic variant in gene HPRT1 (hypoxanthine phosphoribosyltransferase 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Lesch-Nyhan_syndrome', 'Partial_hypoxanthine-guanine_phosphoribosyltransferase_deficiency'] | ATAATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAACATCA... | ATAATTCATTATCATACCTACAAAGTTAACAGTTACTAATATCATCTTACACCTAAATTTCTCTGATAGACTAAGGTTATTTTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAACATCA... | pathogenic | 339,265 |
Gene HPRT1 (hypoxanthine phosphoribosyltransferase 1) variant at chromosome X, position 134475333—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Lesch-Nyhan_syndrome', 'Partial_hypoxanthine-guanine_phosphoribosyltransferase_deficiency'] | TTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAACATCAGCAGCTGTTCTGAGTACTTGCTATTTGAACATAAACTAGGCCAACTTATTAAATAACTGATGCTTTCTAAAATCTTCTTTA... | TTTTAACATCTTAATCCAATCAAATGTTTGTATCCTGTAATGCTCTCATTGAAACAGCTATATTTCTTTTTCAGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCATTATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGTAAGTAAGATCTTAAAATGAGGTTTTTTACTTTTTCTTGTGTTAATTTCAAACATCAGCAGCTGTTCTGAGTACTTGCTATTTGAACATAAACTAGGCCAACTTATTAAATAACTGATGCTTTCTAAAATCTTCTTTA... | pathogenic | 339,266 |
Considering the variant on chromosome X, location 134486444, involving gene HPRT1 (hypoxanthine phosphoribosyltransferase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TGTAATTTCCCTAAATTGAGAAGTAATATGCAAAGGTTGATATCAGAAGTCATATGCTCACCTTGCAACACCAAATAATACTGGCCCATTTGTGATTTTTGAAAGTAACACTCCATAATAAATGGATGTATATATAGAAGCATAACAAAAATAGAAGCACATAAAAGTGAAAAGTCTCATAAACGCCATTGTCACTACTCATGTAATTGCTGTTACAAATTTGTTTAAATGTTGAATAAAAATGGTGTCATAGGCAACACAGTGTTCCACTACTTGGTGTTTTTAATAGCATTATTCTGTCTCAGTGTGCTTTGGATTAT... | TGTAATTTCCCTAAATTGAGAAGTAATATGCAAAGGTTGATATCAGAAGTCATATGCTCACCTTGCAACACCAAATAATACTGGCCCATTTGTGATTTTTGAAAGTAACACTCCATAATAAATGGATGTATATATAGAAGCATAACAAAAATAGAAGCACATAAAAGTGAAAAGTCTCATAAACGCCATTGTCACTACTCATGTAATTGCTGTTACAAATTTGTTTAAATGTTGAATAAAAATGGTGTCATAGGCAACACAGTGTTCCACTACTTGGTGTTTTTAATAGCATTATTCTGTCTCAGTGTGCTTTGGATTAT... | benign | 339,267 |
Regarding the variant at chromosome X and position 134486444, affecting gene HPRT1 (hypoxanthine phosphoribosyltransferase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TGTAATTTCCCTAAATTGAGAAGTAATATGCAAAGGTTGATATCAGAAGTCATATGCTCACCTTGCAACACCAAATAATACTGGCCCATTTGTGATTTTTGAAAGTAACACTCCATAATAAATGGATGTATATATAGAAGCATAACAAAAATAGAAGCACATAAAAGTGAAAAGTCTCATAAACGCCATTGTCACTACTCATGTAATTGCTGTTACAAATTTGTTTAAATGTTGAATAAAAATGGTGTCATAGGCAACACAGTGTTCCACTACTTGGTGTTTTTAATAGCATTATTCTGTCTCAGTGTGCTTTGGATTAT... | TGTAATTTCCCTAAATTGAGAAGTAATATGCAAAGGTTGATATCAGAAGTCATATGCTCACCTTGCAACACCAAATAATACTGGCCCATTTGTGATTTTTGAAAGTAACACTCCATAATAAATGGATGTATATATAGAAGCATAACAAAAATAGAAGCACATAAAAGTGAAAAGTCTCATAAACGCCATTGTCACTACTCATGTAATTGCTGTTACAAATTTGTTTAAATGTTGAATAAAAATGGTGTCATAGGCAACACAGTGTTCCACTACTTGGTGTTTTTAATAGCATTATTCTGTCTCAGTGTGCTTTGGATTAT... | benign | 339,268 |
Determine if the mutation at chromosome X, position 134486444 in gene HPRT1 (hypoxanthine phosphoribosyltransferase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TGTAATTTCCCTAAATTGAGAAGTAATATGCAAAGGTTGATATCAGAAGTCATATGCTCACCTTGCAACACCAAATAATACTGGCCCATTTGTGATTTTTGAAAGTAACACTCCATAATAAATGGATGTATATATAGAAGCATAACAAAAATAGAAGCACATAAAAGTGAAAAGTCTCATAAACGCCATTGTCACTACTCATGTAATTGCTGTTACAAATTTGTTTAAATGTTGAATAAAAATGGTGTCATAGGCAACACAGTGTTCCACTACTTGGTGTTTTTAATAGCATTATTCTGTCTCAGTGTGCTTTGGATTAT... | TGTAATTTCCCTAAATTGAGAAGTAATATGCAAAGGTTGATATCAGAAGTCATATGCTCACCTTGCAACACCAAATAATACTGGCCCATTTGTGATTTTTGAAAGTAACACTCCATAATAAATGGATGTATATATAGAAGCATAACAAAAATAGAAGCACATAAAAGTGAAAAGTCTCATAAACGCCATTGTCACTACTCATGTAATTGCTGTTACAAATTTGTTTAAATGTTGAATAAAAATGGTGTCATAGGCAACACAGTGTTCCACTACTTGGTGTTTTTAATAGCATTATTCTGTCTCAGTGTGCTTTGGATTAT... | benign | 339,269 |
Is the chromosome X, position 134498435 variant in HPRT1 (hypoxanthine phosphoribosyltransferase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Lesch-Nyhan_syndrome', 'Partial_hypoxanthine-guanine_phosphoribosyltransferase_deficiency'] | CCCATTTACAGTATGGAAAATGCTTCAGATGCAACTCTAGTCATGCCTTAGAGATGGAGCTTTATTAAACATTCAGATCTCTAGGCATATGAAGTGCTGAGTTCTCTTGAACTCCTAATACAGATTGCACTGAGTTTAGTGATACCTTTTCTGGAGCATTCCTGAGTTCAGGTAGGGAGAAGGGTTTTTGCTGTGATTGGCTTGTTATGTTCTTTCTAAATGGAAATAGAATTGAAGTGTCTCCTCTCTCCATTTATTGGAAGAGTCATGAGGGACATAATTAGATGATCCCTTGGAGTCTCCGGCTTAGGTCAGTGGTT... | CCCATTTACAGTATGGAAAATGCTTCAGATGCAACTCTAGTCATGCCTTAGAGATGGAGCTTTATTAAACATTCAGATCTCTAGGCATATGAAGTGCTGAGTTCTCTTGAACTCCTAATACAGATTGCACTGAGTTTAGTGATACCTTTTCTGGAGCATTCCTGAGTTCAGGTAGGGAGAAGGGTTTTTGCTGTGATTGGCTTGTTATGTTCTTTCTAAATGGAAATAGAATTGAAGTGTCTCCTCTCTCCATTTATTGGAAGAGTCATGAGGGACATAATTAGATGATCCCTTGGAGTCTCCGGCTTAGGTCAGTGGTT... | pathogenic | 339,279 |
A genetic alteration at chromosome X, position 135985492, in gene SLC9A6—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GAGAAACCCGGGTGTAGGCGTCAGAAGTATAGAGCAGTGCTGGATGGAGAGAGAAGTACATTCTCGGGGGAGCAGAAGCCTCAGGGGGATTGGCTGCCTGGTAGAAGTTACTACCATTTCAAGATTCCTCCTAGAACTCGAGTACAAAGAGATTGCTGAGGGGCATACTAAGTTGCTGGGGCCACATAAACAGAGGTGGAGTCTGGTGCTTGAAGACATTTCCTGACTCTGGTCAGGGAAGCAATCTGTGGCTTCGGGTTTTTTTTTTTTTTTTTCAAGTTCCCAACACTCAGTGAAAAGTGGGTTTATGCTGGGACAAA... | GAGAAACCCGGGTGTAGGCGTCAGAAGTATAGAGCAGTGCTGGATGGAGAGAGAAGTACATTCTCGGGGGAGCAGAAGCCTCAGGGGGATTGGCTGCCTGGTAGAAGTTACTACCATTTCAAGATTCCTCCTAGAACTCGAGTACAAAGAGATTGCTGAGGGGCATACTAAGTTGCTGGGGCCACATAAACAGAGGTGGAGTCTGGTGCTTGAAGACATTTCCTGACTCTGGTCAGGGAAGCAATCTGTGGCTTCGGGTTTTTTTTTTTTTTTTTCAAGTTCCCAACACTCAGTGAAAAGTGGGTTTATGCTGGGACAAA... | benign | 339,286 |
A genetic variant on chromosome X, position 135998094, affects the gene SLC9A6 (solute carrier family 9 member A6). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Christianson_syndrome', 'Inborn_genetic_diseases', 'Intellectual_disability', 'likely other unspecified diseases'] | TTTTGACACAGGGTTTTACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTCAGCTCTCTGCAACCCCCGCCTCCCAGGCTCAGGTGACTCTCCAACCTCAGCCTCCTTAGTAGCTCAGACTACAGGCACGTGCCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGTCTAGGCTTGTCTCAAACTCCTGGACTCAGGCGAACCACCCACCTCAGCCTCCCAGAGTGCTAGGAGTACAGGCAGGACTTGATTTTTATAGCTACTTGGTTGTGTTTCTGACCATCTTTAATGCTTT... | TTTTGACACAGGGTTTTACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTCAGCTCTCTGCAACCCCCGCCTCCCAGGCTCAGGTGACTCTCCAACCTCAGCCTCCTTAGTAGCTCAGACTACAGGCACGTGCCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGTCTAGGCTTGTCTCAAACTCCTGGACTCAGGCGAACCACCCACCTCAGCCTCCCAGAGTGCTAGGAGTACAGGCAGGACTTGATTTTTATAGCTACTTGGTTGTGTTTCTGACCATCTTTAATGCTTT... | pathogenic | 339,300 |
Does the variant impacting SLC9A6 (solute carrier family 9 member A6) on chromosome X, position 135998464, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CCTGTGGAAAATTCCAATTCCTTAAAAGTTCTAGTTAACGAAGTTTTAGCATGGGTTTGTGTGTAGCTACTTTGTGTTCATGTCACATTCTACTGCAGCCTTATGAACAGAAGGGGGTATTTACATTTTTATGGTGACTAGGTCTTAAAATGAGTGGGCTATCGGAAGTAGAAATCTGAGCTGTACAGAAACTTTTTACTACAATATTATACAACTTTAGAGATGTTATCTATGTAAGAAATCTGTTTCTTTTTGCCAACAATAATACTGTACTCTTAAGTTTTATATTACCAGTTTGGGGTTTCATTCATTCATTTATT... | CCTGTGGAAAATTCCAATTCCTTAAAAGTTCTAGTTAACGAAGTTTTAGCATGGGTTTGTGTGTAGCTACTTTGTGTTCATGTCACATTCTACTGCAGCCTTATGAACAGAAGGGGGTATTTACATTTTTATGGTGACTAGGTCTTAAAATGAGTGGGCTATCGGAAGTAGAAATCTGAGCTGTACAGAAACTTTTTACTACAATATTATACAACTTTAGAGATGTTATCTATGTAAGAAATCTGTTTCTTTTTGCCAACAATAATACTGTACTCTTAAGTTTTATATTACCAGTTTGGGGTTTCATTCATTCATTTATT... | benign | 339,302 |
Clinical significance of chromosome X, position 135998464, gene SLC9A6 (solute carrier family 9 member A6): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CCTGTGGAAAATTCCAATTCCTTAAAAGTTCTAGTTAACGAAGTTTTAGCATGGGTTTGTGTGTAGCTACTTTGTGTTCATGTCACATTCTACTGCAGCCTTATGAACAGAAGGGGGTATTTACATTTTTATGGTGACTAGGTCTTAAAATGAGTGGGCTATCGGAAGTAGAAATCTGAGCTGTACAGAAACTTTTTACTACAATATTATACAACTTTAGAGATGTTATCTATGTAAGAAATCTGTTTCTTTTTGCCAACAATAATACTGTACTCTTAAGTTTTATATTACCAGTTTGGGGTTTCATTCATTCATTTATT... | CCTGTGGAAAATTCCAATTCCTTAAAAGTTCTAGTTAACGAAGTTTTAGCATGGGTTTGTGTGTAGCTACTTTGTGTTCATGTCACATTCTACTGCAGCCTTATGAACAGAAGGGGGTATTTACATTTTTATGGTGACTAGGTCTTAAAATGAGTGGGCTATCGGAAGTAGAAATCTGAGCTGTACAGAAACTTTTTACTACAATATTATACAACTTTAGAGATGTTATCTATGTAAGAAATCTGTTTCTTTTTGCCAACAATAATACTGTACTCTTAAGTTTTATATTACCAGTTTGGGGTTTCATTCATTCATTTATT... | benign | 339,303 |
Clinical significance of chromosome X, position 135998464, gene SLC9A6 (solute carrier family 9 member A6): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CCTGTGGAAAATTCCAATTCCTTAAAAGTTCTAGTTAACGAAGTTTTAGCATGGGTTTGTGTGTAGCTACTTTGTGTTCATGTCACATTCTACTGCAGCCTTATGAACAGAAGGGGGTATTTACATTTTTATGGTGACTAGGTCTTAAAATGAGTGGGCTATCGGAAGTAGAAATCTGAGCTGTACAGAAACTTTTTACTACAATATTATACAACTTTAGAGATGTTATCTATGTAAGAAATCTGTTTCTTTTTGCCAACAATAATACTGTACTCTTAAGTTTTATATTACCAGTTTGGGGTTTCATTCATTCATTTATT... | CCTGTGGAAAATTCCAATTCCTTAAAAGTTCTAGTTAACGAAGTTTTAGCATGGGTTTGTGTGTAGCTACTTTGTGTTCATGTCACATTCTACTGCAGCCTTATGAACAGAAGGGGGTATTTACATTTTTATGGTGACTAGGTCTTAAAATGAGTGGGCTATCGGAAGTAGAAATCTGAGCTGTACAGAAACTTTTTACTACAATATTATACAACTTTAGAGATGTTATCTATGTAAGAAATCTGTTTCTTTTTGCCAACAATAATACTGTACTCTTAAGTTTTATATTACCAGTTTGGGGTTTCATTCATTCATTTATT... | benign | 339,304 |
Is chromosome X, position 136002213, gene SLC9A6 (solute carrier family 9 member A6) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Christianson_syndrome'] | CACTTGAGCCTAGGAGTTTGAGGCTGCAGTGAGCTGCAGTGAGGCTGCAGTCTCATTCTGCCTGGGCGAGAAGGGCGAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTTAAAGGATTAGTTAGAGGGCCATTTTAGAGAATTTGTGTAGTTTAGCATTTTTAAAACTGGAAATTAAATTGCTTCCTTAAAGACCACCAAAGCTGTCCTCTCATTGTTTGTAGCTACTCCCATTATCAACATGAAGGTAGGATGGTTTTGGCAAGGAGCCGGTGGTCTCTGGTTTCTGTGTCCTTTCATTATAAGCA... | CACTTGAGCCTAGGAGTTTGAGGCTGCAGTGAGCTGCAGTGAGGCTGCAGTCTCATTCTGCCTGGGCGAGAAGGGCGAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTTAAAGGATTAGTTAGAGGGCCATTTTAGAGAATTTGTGTAGTTTAGCATTTTTAAAACTGGAAATTAAATTGCTTCCTTAAAGACCACCAAAGCTGTCCTCTCATTGTTTGTAGCTACTCCCATTATCAACATGAAGGTAGGATGGTTTTGGCAAGGAGCCGGTGGTCTCTGGTTTCTGTGTCCTTTCATTATAAGCA... | pathogenic | 339,314 |
Is the genetic change at chromosome X, position 136013505, within gene SLC9A6 (solute carrier family 9 member A6) benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATCTCGAACTCCTGACGTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTAAAAACATGTTTTAAACCCCCCACCCAAAACAAAAAGCCAGAAGGCATGTCTGGATCACCTGCTACATGTGCTGTGCTCTGTGTATCAAAGCTAAAGAAGACAAACATGACCTCTGCCTCCCTGGTGCTTTCGATATAGTGGCAGACACAAACATGCTAGAAGCTTTGACACTTCACCTCTTTGGATCTCAGTGTAGGAAATTGGAGGGTGGGGACGGTAGGAAAGAGGAGTGG... | ATCTCGAACTCCTGACGTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTAAAAACATGTTTTAAACCCCCCACCCAAAACAAAAAGCCAGAAGGCATGTCTGGATCACCTGCTACATGTGCTGTGCTCTGTGTATCAAAGCTAAAGAAGACAAACATGACCTCTGCCTCCCTGGTGCTTTCGATATAGTGGCAGACACAAACATGCTAGAAGCTTTGACACTTCACCTCTTTGGATCTCAGTGTAGGAAATTGGAGGGTGGGGACGGTAGGAAAGAGGAGTGG... | benign | 339,327 |
Is the genetic variant on chromosome X, position 136016705, gene SLC9A6 (solute carrier family 9 member A6), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Christianson_syndrome', 'Gastrostomy_tube_feeding_in_infancy', 'Global_developmental_delay', 'Recurrent_respiratory_infections', 'Scoliosis', 'Seizure', 'Sleep_abnormality'] | CAGGAGGCTGAGGTAGAAGAATCGCTTGAACCCGGAAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGATGACAGAGCGAGACTCTGTCTCAAGAACAAACAAACAAACAACAAAAAACTAGAACAGGGTAAGAGCTTCCAGTGTTGTTGGTGATATGATATGAAGCTTATGTACATTTAAGAAATATGAGGAATAGGAATCCTAGATTATGTACTTCAGATTATATGTCATAGAAGACATCAGAGAAGTAGGGGAAATGGTTTGAGGCTTGAGGATCTGGAAAGTATCCTAGAAGAAACAGT... | CAGGAGGCTGAGGTAGAAGAATCGCTTGAACCCGGAAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGATGACAGAGCGAGACTCTGTCTCAAGAACAAACAAACAAACAACAAAAAACTAGAACAGGGTAAGAGCTTCCAGTGTTGTTGGTGATATGATATGAAGCTTATGTACATTTAAGAAATATGAGGAATAGGAATCCTAGATTATGTACTTCAGATTATATGTCATAGAAGACATCAGAGAAGTAGGGGAAATGGTTTGAGGCTTGAGGATCTGGAAAGTATCCTAGAAGAAACAGT... | pathogenic | 339,330 |
Clinical classification of chromosome X, position 136024459, gene SLC9A6 (solute carrier family 9 member A6): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Christianson_syndrome'] | AAAATTTCCATCATTGCAGAAAGTTCTGTTGGACAGTGTTATGTTAGACAATGGAACCAAGAGACTGTGTGTTAGAAACTGAGTTCCCTAAAATAGTCTTTCACCATCTTGAGTGTATAGTCTAAATAATATTAATAGTAAAATGAAATGATCCTTAACCTATTAATAATTTTAGGTTGCTATTTTCTTGGGAAGAGCTGCCAATATTTACCCCTTGTCCCTCTTACTTAATTTGGGTAGAAGAAGTAAGATTGGATCAAATTTTCAACACATGATGATGTTTGCTGGTAAGTTGTAACTTTCTTCTCTTGCCCACTTCA... | AAAATTTCCATCATTGCAGAAAGTTCTGTTGGACAGTGTTATGTTAGACAATGGAACCAAGAGACTGTGTGTTAGAAACTGAGTTCCCTAAAATAGTCTTTCACCATCTTGAGTGTATAGTCTAAATAATATTAATAGTAAAATGAAATGATCCTTAACCTATTAATAATTTTAGGTTGCTATTTTCTTGGGAAGAGCTGCCAATATTTACCCCTTGTCCCTCTTACTTAATTTGGGTAGAAGAAGTAAGATTGGATCAAATTTTCAACACATGATGATGTTTGCTGGTAAGTTGTAACTTTCTTCTCTTGCCCACTTCA... | pathogenic | 339,342 |
The mutation impacting SLC9A6 (solute carrier family 9 member A6) on chromosome X at position 136044728: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GTGTATATATGGCTTTGTTATTGTTTTACACAAATGGGATTATAATAGGCATATTGTCCCATTACTTGCTTTTTTTTTCAATTACTGACACATCATGGATACCTTTATATGTGAGTATGTTAGATGTCTTACCTTCTCTTTTCATGGCTACGTCCTATTCCATTTCATAGCTGTAGCAAAATTCATGTATTCAGTCTCTTATGGATAGATGTTTCAGTCATTTCCTTTTTTGCTATTATAAACAATACTTATAGTGAATATTCTTTTACATATAAACTTACCTAACTATGTAAAAGTATATAGAATAGATTTTAAAGGTA... | GTGTATATATGGCTTTGTTATTGTTTTACACAAATGGGATTATAATAGGCATATTGTCCCATTACTTGCTTTTTTTTTCAATTACTGACACATCATGGATACCTTTATATGTGAGTATGTTAGATGTCTTACCTTCTCTTTTCATGGCTACGTCCTATTCCATTTCATAGCTGTAGCAAAATTCATGTATTCAGTCTCTTATGGATAGATGTTTCAGTCATTTCCTTTTTTGCTATTATAAACAATACTTATAGTGAATATTCTTTTACATATAAACTTACCTAACTATGTAAAAGTATATAGAATAGATTTTAAAGGTA... | benign | 339,366 |
A genetic variant on chromosome X, position 136044729, affects the gene SLC9A6 (solute carrier family 9 member A6). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TGTATATATGGCTTTGTTATTGTTTTACACAAATGGGATTATAATAGGCATATTGTCCCATTACTTGCTTTTTTTTTCAATTACTGACACATCATGGATACCTTTATATGTGAGTATGTTAGATGTCTTACCTTCTCTTTTCATGGCTACGTCCTATTCCATTTCATAGCTGTAGCAAAATTCATGTATTCAGTCTCTTATGGATAGATGTTTCAGTCATTTCCTTTTTTGCTATTATAAACAATACTTATAGTGAATATTCTTTTACATATAAACTTACCTAACTATGTAAAAGTATATAGAATAGATTTTAAAGGTAA... | TGTATATATGGCTTTGTTATTGTTTTACACAAATGGGATTATAATAGGCATATTGTCCCATTACTTGCTTTTTTTTTCAATTACTGACACATCATGGATACCTTTATATGTGAGTATGTTAGATGTCTTACCTTCTCTTTTCATGGCTACGTCCTATTCCATTTCATAGCTGTAGCAAAATTCATGTATTCAGTCTCTTATGGATAGATGTTTCAGTCATTTCCTTTTTTGCTATTATAAACAATACTTATAGTGAATATTCTTTTACATATAAACTTACCTAACTATGTAAAAGTATATAGAATAGATTTTAAAGGTAA... | benign | 339,367 |
Mutation found at chromosome X position 136207096, gene FHL1 (four and a half LIM domains 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'X-linked_myopathy_with_postural_muscle_atrophy'] | TCTCAATTCTTGTATTTCCTGCACAAATGAAATAATTGCTATCTATTTACCCGTGCAAATTTCTTTTTCGGGGGAGAGGAACAAATTAGCATATGTTTAAAGAAGTTGAAAGCTAATAGAAACTCATATTTGGTACCTTTTGGGTGGCAGGATTCTATAGGAAATGCCTTGGCAAAGGGAGCTGCAGAGTGCCTTAGTAATGCTTGGGATTGCAGGCGTGTTGTCTAGGGCCACAGCCGGGGAGGGGACCAGGGAGGGAAGAGGGGTTGTTCATACGGAGGGAGTGGAAGGGATTCTTGGAATAATTTTTTCCAGACTCT... | TCTCAATTCTTGTATTTCCTGCACAAATGAAATAATTGCTATCTATTTACCCGTGCAAATTTCTTTTTCGGGGGAGAGGAACAAATTAGCATATGTTTAAAGAAGTTGAAAGCTAATAGAAACTCATATTTGGTACCTTTTGGGTGGCAGGATTCTATAGGAAATGCCTTGGCAAAGGGAGCTGCAGAGTGCCTTAGTAATGCTTGGGATTGCAGGCGTGTTGTCTAGGGCCACAGCCGGGGAGGGGACCAGGGAGGGAAGAGGGGTTGTTCATACGGAGGGAGTGGAAGGGATTCTTGGAATAATTTTTTCCAGACTCT... | pathogenic | 339,389 |
Clinically, how would you classify the variant at chromosome X, position 136207816, gene FHL1 (four and a half LIM domains 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['X-linked_myopathy_with_postural_muscle_atrophy'] | GATAGGAGGAACGGGAGGCCTCCAGAGGATACTACCCTCCCTAAAAAGAGACGGAGGAAGAGCTGAAAGCGGGCAGAGAGGCTTCTTGATGACAACGTGGTGGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAG... | GATAGGAGGAACGGGAGGCCTCCAGAGGATACTACCCTCCCTAAAAAGAGACGGAGGAAGAGCTGAAAGCGGGCAGAGAGGCTTCTTGATGACAACGTGGTGGGCTTAGAGAAGCTGCTGCCTGCAGGCGGGGCCCCTGCTTTCCTGCACCCCTTTGAGCCTCTGCCCCACACTCTTCCTTTGTATAAAACAACTGCTTCTTGCCTGCCTGCCCCATCACACCCCTCCACTCCATCGGGTCACTGCTCAATGGCACAATAGCACTGCTCAGCCATACCTCCCAGCATCCTGTCCCCTATCTGGTGACTTGGCCAACACAG... | pathogenic | 339,397 |
Does the chromosome X mutation at position 136208510 within gene FHL1 (four and a half LIM domains 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'X-linked_myopathy_with_postural_muscle_atrophy'] | CAGGGATCCCTTGCAGGGGAAGAAGTATGTGCAAAAGGATGGCCACCACTGCTGCCTGAAATGCTTTGACAAGTTCTGTGCCAACACCTGTGTGGAATGCCGCAAGCCCATCGGTGCGGACTCCAAGGTAACGGGCATCCCCATGTGCCAATGGGAAGGGCTGGGTTTTGGAGTGTCCTTTGCCCACAACCATGGCAGCAGCAGCTGGCTGTTAGGATTTCCCAGCATCACTGCAGCCACCTTGAGGCCTCAAGGAAGCCTCCTCCACTCCCCAGGCCACAGTGGCCCGAGCTGTTTAATGTGGGGCTTGACTGGATGGG... | CAGGGATCCCTTGCAGGGGAAGAAGTATGTGCAAAAGGATGGCCACCACTGCTGCCTGAAATGCTTTGACAAGTTCTGTGCCAACACCTGTGTGGAATGCCGCAAGCCCATCGGTGCGGACTCCAAGGTAACGGGCATCCCCATGTGCCAATGGGAAGGGCTGGGTTTTGGAGTGTCCTTTGCCCACAACCATGGCAGCAGCAGCTGGCTGTTAGGATTTCCCAGCATCACTGCAGCCACCTTGAGGCCTCAAGGAAGCCTCCTCCACTCCCCAGGCCACAGTGGCCCGAGCTGTTTAATGTGGGGCTTGACTGGATGGG... | pathogenic | 339,413 |
Is the variant located on chromosome X at position 136208564, gene FHL1 (four and a half LIM domains 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['X-linked_myopathy_with_postural_muscle_atrophy'] | CCTGAAATGCTTTGACAAGTTCTGTGCCAACACCTGTGTGGAATGCCGCAAGCCCATCGGTGCGGACTCCAAGGTAACGGGCATCCCCATGTGCCAATGGGAAGGGCTGGGTTTTGGAGTGTCCTTTGCCCACAACCATGGCAGCAGCAGCTGGCTGTTAGGATTTCCCAGCATCACTGCAGCCACCTTGAGGCCTCAAGGAAGCCTCCTCCACTCCCCAGGCCACAGTGGCCCGAGCTGTTTAATGTGGGGCTTGACTGGATGGGCGCCAGCGCCCTTGCCAGCTCTTTTGATTGCATTCTAAATATTTCAAGAATTGT... | CCTGAAATGCTTTGACAAGTTCTGTGCCAACACCTGTGTGGAATGCCGCAAGCCCATCGGTGCGGACTCCAAGGTAACGGGCATCCCCATGTGCCAATGGGAAGGGCTGGGTTTTGGAGTGTCCTTTGCCCACAACCATGGCAGCAGCAGCTGGCTGTTAGGATTTCCCAGCATCACTGCAGCCACCTTGAGGCCTCAAGGAAGCCTCCTCCACTCCCCAGGCCACAGTGGCCCGAGCTGTTTAATGTGGGGCTTGACTGGATGGGCGCCAGCGCCCTTGCCAGCTCTTTTGATTGCATTCTAAATATTTCAAGAATTGT... | pathogenic | 339,418 |
Considering the genetic mutation at chromosome X, position 136208575, impacting FHL1 (four and a half LIM domains 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['X-linked_myopathy_with_postural_muscle_atrophy'] | TTGACAAGTTCTGTGCCAACACCTGTGTGGAATGCCGCAAGCCCATCGGTGCGGACTCCAAGGTAACGGGCATCCCCATGTGCCAATGGGAAGGGCTGGGTTTTGGAGTGTCCTTTGCCCACAACCATGGCAGCAGCAGCTGGCTGTTAGGATTTCCCAGCATCACTGCAGCCACCTTGAGGCCTCAAGGAAGCCTCCTCCACTCCCCAGGCCACAGTGGCCCGAGCTGTTTAATGTGGGGCTTGACTGGATGGGCGCCAGCGCCCTTGCCAGCTCTTTTGATTGCATTCTAAATATTTCAAGAATTGTGAGATTTTTAT... | TTGACAAGTTCTGTGCCAACACCTGTGTGGAATGCCGCAAGCCCATCGGTGCGGACTCCAAGGTAACGGGCATCCCCATGTGCCAATGGGAAGGGCTGGGTTTTGGAGTGTCCTTTGCCCACAACCATGGCAGCAGCAGCTGGCTGTTAGGATTTCCCAGCATCACTGCAGCCACCTTGAGGCCTCAAGGAAGCCTCCTCCACTCCCCAGGCCACAGTGGCCCGAGCTGTTTAATGTGGGGCTTGACTGGATGGGCGCCAGCGCCCTTGCCAGCTCTTTTGATTGCATTCTAAATATTTCAAGAATTGTGAGATTTTTAT... | pathogenic | 339,420 |
Variant on chromosome X, at position 136209853, affecting FHL1 (four and a half LIM domains 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GGAGTACAAGGGGACCGTCTGGCACAAAGACTGCTTCACCTGTAGTAACTGCAAGCAAGTCATCGGGACTGGAAGCTTCTTCCCTAAAGGGGAGGACTTCTACTGCGTGACTTGCCATGAGACCAAGTTTGCCAAGCATTGCGTGAAGTGCAACAAGGTATGCTTTCAAGGGAGTTCTGCATTGACCGTTGTTTCTAGAAGTGTTTGACAGTTTGCAGAGCACTTCCACACACACTATCCCATTCCATCCTCACGACAGCCCTGTGACGTAGGAATTATTATTCCCGTTTTACAGATGAGGAGATCGTGGATTAGGAAGC... | GGAGTACAAGGGGACCGTCTGGCACAAAGACTGCTTCACCTGTAGTAACTGCAAGCAAGTCATCGGGACTGGAAGCTTCTTCCCTAAAGGGGAGGACTTCTACTGCGTGACTTGCCATGAGACCAAGTTTGCCAAGCATTGCGTGAAGTGCAACAAGGTATGCTTTCAAGGGAGTTCTGCATTGACCGTTGTTTCTAGAAGTGTTTGACAGTTTGCAGAGCACTTCCACACACACTATCCCATTCCATCCTCACGACAGCCCTGTGACGTAGGAATTATTATTCCCGTTTTACAGATGAGGAGATCGTGGATTAGGAAGC... | benign | 339,428 |
A genetic variant at chromosome X, position 136209853, affecting gene FHL1 (four and a half LIM domains 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GGAGTACAAGGGGACCGTCTGGCACAAAGACTGCTTCACCTGTAGTAACTGCAAGCAAGTCATCGGGACTGGAAGCTTCTTCCCTAAAGGGGAGGACTTCTACTGCGTGACTTGCCATGAGACCAAGTTTGCCAAGCATTGCGTGAAGTGCAACAAGGTATGCTTTCAAGGGAGTTCTGCATTGACCGTTGTTTCTAGAAGTGTTTGACAGTTTGCAGAGCACTTCCACACACACTATCCCATTCCATCCTCACGACAGCCCTGTGACGTAGGAATTATTATTCCCGTTTTACAGATGAGGAGATCGTGGATTAGGAAGC... | GGAGTACAAGGGGACCGTCTGGCACAAAGACTGCTTCACCTGTAGTAACTGCAAGCAAGTCATCGGGACTGGAAGCTTCTTCCCTAAAGGGGAGGACTTCTACTGCGTGACTTGCCATGAGACCAAGTTTGCCAAGCATTGCGTGAAGTGCAACAAGGTATGCTTTCAAGGGAGTTCTGCATTGACCGTTGTTTCTAGAAGTGTTTGACAGTTTGCAGAGCACTTCCACACACACTATCCCATTCCATCCTCACGACAGCCCTGTGACGTAGGAATTATTATTCCCGTTTTACAGATGAGGAGATCGTGGATTAGGAAGC... | benign | 339,429 |
Is chromosome X, position 136209858, gene FHL1 (four and a half LIM domains 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | ACAAGGGGACCGTCTGGCACAAAGACTGCTTCACCTGTAGTAACTGCAAGCAAGTCATCGGGACTGGAAGCTTCTTCCCTAAAGGGGAGGACTTCTACTGCGTGACTTGCCATGAGACCAAGTTTGCCAAGCATTGCGTGAAGTGCAACAAGGTATGCTTTCAAGGGAGTTCTGCATTGACCGTTGTTTCTAGAAGTGTTTGACAGTTTGCAGAGCACTTCCACACACACTATCCCATTCCATCCTCACGACAGCCCTGTGACGTAGGAATTATTATTCCCGTTTTACAGATGAGGAGATCGTGGATTAGGAAGCAGTGC... | ACAAGGGGACCGTCTGGCACAAAGACTGCTTCACCTGTAGTAACTGCAAGCAAGTCATCGGGACTGGAAGCTTCTTCCCTAAAGGGGAGGACTTCTACTGCGTGACTTGCCATGAGACCAAGTTTGCCAAGCATTGCGTGAAGTGCAACAAGGTATGCTTTCAAGGGAGTTCTGCATTGACCGTTGTTTCTAGAAGTGTTTGACAGTTTGCAGAGCACTTCCACACACACTATCCCATTCCATCCTCACGACAGCCCTGTGACGTAGGAATTATTATTCCCGTTTTACAGATGAGGAGATCGTGGATTAGGAAGCAGTGC... | benign | 339,432 |
Variant at chromosome X, position 136209862, gene FHL1 (four and a half LIM domains 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GGGGACCGTCTGGCACAAAGACTGCTTCACCTGTAGTAACTGCAAGCAAGTCATCGGGACTGGAAGCTTCTTCCCTAAAGGGGAGGACTTCTACTGCGTGACTTGCCATGAGACCAAGTTTGCCAAGCATTGCGTGAAGTGCAACAAGGTATGCTTTCAAGGGAGTTCTGCATTGACCGTTGTTTCTAGAAGTGTTTGACAGTTTGCAGAGCACTTCCACACACACTATCCCATTCCATCCTCACGACAGCCCTGTGACGTAGGAATTATTATTCCCGTTTTACAGATGAGGAGATCGTGGATTAGGAAGCAGTGCCACA... | GGGGACCGTCTGGCACAAAGACTGCTTCACCTGTAGTAACTGCAAGCAAGTCATCGGGACTGGAAGCTTCTTCCCTAAAGGGGAGGACTTCTACTGCGTGACTTGCCATGAGACCAAGTTTGCCAAGCATTGCGTGAAGTGCAACAAGGTATGCTTTCAAGGGAGTTCTGCATTGACCGTTGTTTCTAGAAGTGTTTGACAGTTTGCAGAGCACTTCCACACACACTATCCCATTCCATCCTCACGACAGCCCTGTGACGTAGGAATTATTATTCCCGTTTTACAGATGAGGAGATCGTGGATTAGGAAGCAGTGCCACA... | benign | 339,435 |
The mutation impacting FHL1 (four and a half LIM domains 1) on chromosome X at position 136209971: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['X-linked_myopathy_with_postural_muscle_atrophy'] | GAGACCAAGTTTGCCAAGCATTGCGTGAAGTGCAACAAGGTATGCTTTCAAGGGAGTTCTGCATTGACCGTTGTTTCTAGAAGTGTTTGACAGTTTGCAGAGCACTTCCACACACACTATCCCATTCCATCCTCACGACAGCCCTGTGACGTAGGAATTATTATTCCCGTTTTACAGATGAGGAGATCGTGGATTAGGAAGCAGTGCCACAGCCAAGTCAGGCTGTCAGTACGCATCCTCAGCCTGGTGGTGCGGGTGGCCCGTATGGCATGCTGAGCTGGGCAGCCCTGGCTCTAGAAGCCTGCCTCCACCACTTAGGG... | GAGACCAAGTTTGCCAAGCATTGCGTGAAGTGCAACAAGGTATGCTTTCAAGGGAGTTCTGCATTGACCGTTGTTTCTAGAAGTGTTTGACAGTTTGCAGAGCACTTCCACACACACTATCCCATTCCATCCTCACGACAGCCCTGTGACGTAGGAATTATTATTCCCGTTTTACAGATGAGGAGATCGTGGATTAGGAAGCAGTGCCACAGCCAAGTCAGGCTGTCAGTACGCATCCTCAGCCTGGTGGTGCGGGTGGCCCGTATGGCATGCTGAGCTGGGCAGCCCTGGCTCTAGAAGCCTGCCTCCACCACTTAGGG... | pathogenic | 339,442 |
Evaluate this variant at chromosome X, position 136650261, gene CD40LG (CD40 ligand): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hyper-IgM_syndrome_type_1'] | CTCTGCCAGAAGATACCATTTCAACTTTAACACAGCATGATCGAAACATACAACCAAACTTCTCCCCGATCTGCGGCCACTGGACTGCCCATCAGCATGAAAATTTTTATGTATTTACTTACTGTTTTTCTTATCACCCAGATGATTGGGTCAGCACTTTTTGCTGTGTATCTTCATAGAAGGTTGGACAAGGTAAGATGAACCACAAGCCTTTATTAACTAAATTTGGGGTCCTTACTAATTCATAGGTTGGTTCTACCCAAATGATGGATGATGGTAGAAACCAAATAGAAGAATGGTCTTGTGGCATAATGTTTGTT... | CTCTGCCAGAAGATACCATTTCAACTTTAACACAGCATGATCGAAACATACAACCAAACTTCTCCCCGATCTGCGGCCACTGGACTGCCCATCAGCATGAAAATTTTTATGTATTTACTTACTGTTTTTCTTATCACCCAGATGATTGGGTCAGCACTTTTTGCTGTGTATCTTCATAGAAGGTTGGACAAGGTAAGATGAACCACAAGCCTTTATTAACTAAATTTGGGGTCCTTACTAATTCATAGGTTGGTTCTACCCAAATGATGGATGATGGTAGAAACCAAATAGAAGAATGGTCTTGTGGCATAATGTTTGTT... | pathogenic | 339,456 |
Considering the genetic mutation at chromosome X, position 136659187, impacting CD40LG (CD40 ligand): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hyper-IgM_syndrome_type_1', 'Inborn_genetic_diseases'] | TTTGAAAAATTCTACAGAGTGCTCCGGAATGGAGTTCTAAGCAGTGCATGTGTGTGTGCATATGTGTATGTGTGTGACAGGGAGAGAAAGAGAGATGGACAGAGAGAGAAAAAAGACACTGCTTCATCTCTGAAGTGGCTTGGGCTTCTCAGTAGGCGTAACACATGGACAGTTATCATTATCATGGATCATGGTACCAAAGTAAGAGCACTGAATAGGGAGTTTTTGAACACTGGGATTCAAGGACCATGACCACTGCTTGCTGGGTGACCTTGAGCAAGACCCTTTACCTATGCAGCAGTTTTCTACTTCACCTACTT... | TTTGAAAAATTCTACAGAGTGCTCCGGAATGGAGTTCTAAGCAGTGCATGTGTGTGTGCATATGTGTATGTGTGTGACAGGGAGAGAAAGAGAGATGGACAGAGAGAGAAAAAAGACACTGCTTCATCTCTGAAGTGGCTTGGGCTTCTCAGTAGGCGTAACACATGGACAGTTATCATTATCATGGATCATGGTACCAAAGTAAGAGCACTGAATAGGGAGTTTTTGAACACTGGGATTCAAGGACCATGACCACTGCTTGCTGGGTGACCTTGAGCAAGACCCTTTACCTATGCAGCAGTTTTCTACTTCACCTACTT... | pathogenic | 339,464 |
Variant chromosome X, position 137568943, gene ZIC3 (Zic family member 3): benign or pathogenic? Disease(s)? | pathogenic; ['Heterotaxy,_visceral,_1,_X-linked', 'VACTERL_association,_X-linked,_with_or_without_hydrocephalus'] | AGGCCAGAGCTCGGCTTTCACGCCGCAGGGTTCGGGCTACGCCAACGCCCTGGGCCACCATCACCACCACCATCACCATCATCACCACACCAGCCAGGTGCCCAGCTACGGTGGCGCTGCCTCTGCCGCCTTCAACTCAACGCGCGAGTTTCTGTTCCGCCAGCGCAGCTCCGGGCTCAGTGAGGCGGCCTCGGGTGGCGGGCAGCACGGGCTCTTCGCCGGCTCGGCGAGCAGCCTGCATGCTCCAGCTGGCATCCCCGAGCCCCCTAGCTACTTGCTGTTTCCCGGGCTGCATGAGCAGGGCGCTGGGCACCCGTCGC... | AGGCCAGAGCTCGGCTTTCACGCCGCAGGGTTCGGGCTACGCCAACGCCCTGGGCCACCATCACCACCACCATCACCATCATCACCACACCAGCCAGGTGCCCAGCTACGGTGGCGCTGCCTCTGCCGCCTTCAACTCAACGCGCGAGTTTCTGTTCCGCCAGCGCAGCTCCGGGCTCAGTGAGGCGGCCTCGGGTGGCGGGCAGCACGGGCTCTTCGCCGGCTCGGCGAGCAGCCTGCATGCTCCAGCTGGCATCCCCGAGCCCCCTAGCTACTTGCTGTTTCCCGGGCTGCATGAGCAGGGCGCTGGGCACCCGTCGC... | pathogenic | 339,505 |
Determine whether the variant at chromosome X, position 139551084, in gene F9 (coagulation factor IX) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_factor_IX_deficiency_disease', 'Thrombophilia,_X-linked,_due_to_factor_9_defect'] | AAACAATGTTTCCCAGTCATGCCAACCATGCCACCATTTTAACAGCTGATTAGTGTATTCAGAACATCTCCACTCCATGTTCGTATGGCTGTTATCTAAAGATGAAAGCAGTAGACACTTTTATTTTTTGAAAAATTTAGGCTCTGCAGGGTCAATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAAGAAATTAAAGA... | AAACAATGTTTCCCAGTCATGCCAACCATGCCACCATTTTAACAGCTGATTAGTGTATTCAGAACATCTCCACTCCATGTTCGTATGGCTGTTATCTAAAGATGAAAGCAGTAGACACTTTTATTTTTTGAAAAATTTAGGCTCTGCAGGGTCAATTATATTTGATAAATGAGGGGCTTTTTTGAAGCAAACTAGATATAATTTCTTTTGCATTTCTAAAGCCTGATATCTTATTAATTGGTACATTAAATTGTGCACCATTTCTCTGTAACTGTTTCAGTACCTGTCTCAGCACTATACCAGGCAGAAGAAATTAAAGA... | pathogenic | 339,544 |
The chromosome X, position 139561652 genetic variant in gene F9 (coagulation factor IX): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_factor_IX_deficiency_disease'] | CTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAA... | CTCCAGGTAGGAGGCTAGTGCTTCAGTGTCTAGGACATAGTAGGTGTTCAGTAAATTAAATTCAGGACAAAAAGAACATGCCCCAAGGACCATCTGATATCCACTTAAAGTGATGGACTACCTCGTTTCCCTTGTTTATGAATGGGTTCATGCCTAAGACTGTGTGCACTTTAATACAAGGGCAGTCGTTCAGAACTAGTCAGGTCCTGAAAAGGATTTACCAAATGTTGAGTGTGCCCTCTAGTGTTCACACTTCCCAGCTTTCTTCCTATAAAGGTGGATCAAGGCACTTGCTTACAACTGGAACTGAAATCCTCCAA... | pathogenic | 339,569 |
Evaluate this variant at chromosome X, position 140504316, gene SOX3 (SRY-box transcription factor 3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | AGTAGAAAGCGGGCTCGAGACTCTGGATGAAAAGGAGCCTTCTCTGGAAAACAAATAGGTGGACTGAGTTGACATGTTAAAAACAAAACGCCTGGGAGGAGTTTCGGAGATCTTTGAAAATCTAAGGAGTACTTTTTAATACCAAATCTTCCAGCGCTGAATGTTGACTCCGGCGGTTCAGCTACCAGGGTTGAAACGTATTTGTTTCCTGCTGGGGATCCCTGTAACCATTTATTTTTAATAGGATCATCGAGATTTCCGAAGGGTTTTCGTTTTGTAAATATTTCAGCTAGGCTCAAATGTCTTCCCGCCCCAGTGCA... | AGTAGAAAGCGGGCTCGAGACTCTGGATGAAAAGGAGCCTTCTCTGGAAAACAAATAGGTGGACTGAGTTGACATGTTAAAAACAAAACGCCTGGGAGGAGTTTCGGAGATCTTTGAAAATCTAAGGAGTACTTTTTAATACCAAATCTTCCAGCGCTGAATGTTGACTCCGGCGGTTCAGCTACCAGGGTTGAAACGTATTTGTTTCCTGCTGGGGATCCCTGTAACCATTTATTTTTAATAGGATCATCGAGATTTCCGAAGGGTTTTCGTTTTGTAAATATTTCAGCTAGGCTCAAATGTCTTCCCGCCCCAGTGCA... | benign | 339,609 |
The mutation impacting SOX3 (SRY-box transcription factor 3) on chromosome X at position 140504323: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGCGGGCTCGAGACTCTGGATGAAAAGGAGCCTTCTCTGGAAAACAAATAGGTGGACTGAGTTGACATGTTAAAAACAAAACGCCTGGGAGGAGTTTCGGAGATCTTTGAAAATCTAAGGAGTACTTTTTAATACCAAATCTTCCAGCGCTGAATGTTGACTCCGGCGGTTCAGCTACCAGGGTTGAAACGTATTTGTTTCCTGCTGGGGATCCCTGTAACCATTTATTTTTAATAGGATCATCGAGATTTCCGAAGGGTTTTCGTTTTGTAAATATTTCAGCTAGGCTCAAATGTCTTCCCGCCCCAGTGCACAAAGGT... | AGCGGGCTCGAGACTCTGGATGAAAAGGAGCCTTCTCTGGAAAACAAATAGGTGGACTGAGTTGACATGTTAAAAACAAAACGCCTGGGAGGAGTTTCGGAGATCTTTGAAAATCTAAGGAGTACTTTTTAATACCAAATCTTCCAGCGCTGAATGTTGACTCCGGCGGTTCAGCTACCAGGGTTGAAACGTATTTGTTTCCTGCTGGGGATCCCTGTAACCATTTATTTTTAATAGGATCATCGAGATTTCCGAAGGGTTTTCGTTTTGTAAATATTTCAGCTAGGCTCAAATGTCTTCCCGCCCCAGTGCACAAAGGT... | benign | 339,610 |
The mutation impacting SOX3 (SRY-box transcription factor 3) on chromosome X at position 140504329: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CTCGAGACTCTGGATGAAAAGGAGCCTTCTCTGGAAAACAAATAGGTGGACTGAGTTGACATGTTAAAAACAAAACGCCTGGGAGGAGTTTCGGAGATCTTTGAAAATCTAAGGAGTACTTTTTAATACCAAATCTTCCAGCGCTGAATGTTGACTCCGGCGGTTCAGCTACCAGGGTTGAAACGTATTTGTTTCCTGCTGGGGATCCCTGTAACCATTTATTTTTAATAGGATCATCGAGATTTCCGAAGGGTTTTCGTTTTGTAAATATTTCAGCTAGGCTCAAATGTCTTCCCGCCCCAGTGCACAAAGGTAAAAGT... | CTCGAGACTCTGGATGAAAAGGAGCCTTCTCTGGAAAACAAATAGGTGGACTGAGTTGACATGTTAAAAACAAAACGCCTGGGAGGAGTTTCGGAGATCTTTGAAAATCTAAGGAGTACTTTTTAATACCAAATCTTCCAGCGCTGAATGTTGACTCCGGCGGTTCAGCTACCAGGGTTGAAACGTATTTGTTTCCTGCTGGGGATCCCTGTAACCATTTATTTTTAATAGGATCATCGAGATTTCCGAAGGGTTTTCGTTTTGTAAATATTTCAGCTAGGCTCAAATGTCTTCCCGCCCCAGTGCACAAAGGTAAAAGT... | benign | 339,612 |
Determine whether the variant at chromosome X, position 140504329, in gene SOX3 (SRY-box transcription factor 3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CTCGAGACTCTGGATGAAAAGGAGCCTTCTCTGGAAAACAAATAGGTGGACTGAGTTGACATGTTAAAAACAAAACGCCTGGGAGGAGTTTCGGAGATCTTTGAAAATCTAAGGAGTACTTTTTAATACCAAATCTTCCAGCGCTGAATGTTGACTCCGGCGGTTCAGCTACCAGGGTTGAAACGTATTTGTTTCCTGCTGGGGATCCCTGTAACCATTTATTTTTAATAGGATCATCGAGATTTCCGAAGGGTTTTCGTTTTGTAAATATTTCAGCTAGGCTCAAATGTCTTCCCGCCCCAGTGCACAAAGGTAAAAGT... | CTCGAGACTCTGGATGAAAAGGAGCCTTCTCTGGAAAACAAATAGGTGGACTGAGTTGACATGTTAAAAACAAAACGCCTGGGAGGAGTTTCGGAGATCTTTGAAAATCTAAGGAGTACTTTTTAATACCAAATCTTCCAGCGCTGAATGTTGACTCCGGCGGTTCAGCTACCAGGGTTGAAACGTATTTGTTTCCTGCTGGGGATCCCTGTAACCATTTATTTTTAATAGGATCATCGAGATTTCCGAAGGGTTTTCGTTTTGTAAATATTTCAGCTAGGCTCAAATGTCTTCCCGCCCCAGTGCACAAAGGTAAAAGT... | benign | 339,613 |
Determine whether the variant at chromosome X, position 147921983, in gene FMR1 (fragile X messenger ribonucleoprotein 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Inborn_genetic_diseases'] | AAAGACATCTGCATTGAACCATTTGTTTTTAAAAACATGTATCGGGCATGTTCTATATACCAGAAACTATGCCATTTACTGAGGACACCGAAGTTAGAGAATGGTCTTAATCCGAACTAGTTATTGTCTCACTATCCAATATGGATATCAAACATTCAGCGTCATGAGGATTTACTACTGTGTTTTCTCCCAAGAGTTTTATAATTTTAGCTCTTATATTTAGGTCTTTGATGCATATTCATTGATTTTTTTTTGTATGCAGTATGAGGTAAAGGTTGAAACGTATTCTTTTTGCATGTGGGTGTCCACTTGTCCCAGCT... | AAAGACATCTGCATTGAACCATTTGTTTTTAAAAACATGTATCGGGCATGTTCTATATACCAGAAACTATGCCATTTACTGAGGACACCGAAGTTAGAGAATGGTCTTAATCCGAACTAGTTATTGTCTCACTATCCAATATGGATATCAAACATTCAGCGTCATGAGGATTTACTACTGTGTTTTCTCCCAAGAGTTTTATAATTTTAGCTCTTATATTTAGGTCTTTGATGCATATTCATTGATTTTTTTTTGTATGCAGTATGAGGTAAAGGTTGAAACGTATTCTTTTTGCATGTGGGTGTCCACTTGTCCCAGCT... | pathogenic | 339,632 |
Regarding the variant found on chromosome X at position 147929926 in gene FMR1 (fragile X messenger ribonucleoprotein 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | AGTGGTCTTACTTTAGTGACCAAGCAACAAGACAGTAGGGCATGGTCAGTAACTTTCAGTCAATTTTTGCTTACTAGGATAAAGCAAAAATAAGCTTATACATTTTTAGATACATTTTTTGTAACTTGCTGAGTACCCAAGGAAAGTGTGCTTGTATTTATGGGCGTCTATTTTCAGAGCACTAATTATTGCTGAATTAGAACAGAAATATAGGAAAACTGATTTTTACAAGGAGCTTCAAAGCAATCTCAGGTAGTTTCTGATTATGTATCTCTGCCTACCTCGGGGTACATAGACAGGGTTACAATTTGGTTGAGGAT... | AGTGGTCTTACTTTAGTGACCAAGCAACAAGACAGTAGGGCATGGTCAGTAACTTTCAGTCAATTTTTGCTTACTAGGATAAAGCAAAAATAAGCTTATACATTTTTAGATACATTTTTTGTAACTTGCTGAGTACCCAAGGAAAGTGTGCTTGTATTTATGGGCGTCTATTTTCAGAGCACTAATTATTGCTGAATTAGAACAGAAATATAGGAAAACTGATTTTTACAAGGAGCTTCAAAGCAATCTCAGGTAGTTTCTGATTATGTATCTCTGCCTACCTCGGGGTACATAGACAGGGTTACAATTTGGTTGAGGAT... | benign | 339,638 |
Mutation found at chromosome X position 149482809, gene IDS (iduronate 2-sulfatase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | TGAGCCACCGCATCCGACTTCTAACGCACTGGGTTTTAACAAGCCCCTCAAGTAGTTCTGATGCTCCCTCATGTTTGTGAGCCACTGAATGAGGGCCATGCAAAATGTCTAGAATCACTAGTTCTGCTGTCAGCTAAACCACATGAAAGAACCCCTGCTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAAT... | TGAGCCACCGCATCCGACTTCTAACGCACTGGGTTTTAACAAGCCCCTCAAGTAGTTCTGATGCTCCCTCATGTTTGTGAGCCACTGAATGAGGGCCATGCAAAATGTCTAGAATCACTAGTTCTGCTGTCAGCTAAACCACATGAAAGAACCCCTGCTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAAT... | pathogenic | 339,678 |
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