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 |
|---|---|---|---|---|---|
Is the genetic change at chromosome X, position 74521019, within gene SLC16A2 (solute carrier family 16 member 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Allan-Herndon-Dudley_syndrome'] | TTTTCTTTTATGGATCATACGATTTGTGAATATCTGCAAAATCTTTGCCTAACCAAAGGCCAGGAAGATTTGTCTCCTATATGTTCTTCTAGAAGTTTTATAGTTTTAAGTTTTACATTAAGTCTATGATCCATTTTGCATTGATTTTTAAACATGATGTGATTATTGATATTTACAAAGTTCTCTTCTTATACATATAATTTTATCTGATTTTTTTTTTTTCTTTAGATGGAGTCTCACTCTGTCACCCAGCCTGGAGCGCAGTGGTGAGATCTCGGCTCACTGCAAGCTCCGCCTCTTGGGTTCAAGCGATTCTCCTG... | TTTTCTTTTATGGATCATACGATTTGTGAATATCTGCAAAATCTTTGCCTAACCAAAGGCCAGGAAGATTTGTCTCCTATATGTTCTTCTAGAAGTTTTATAGTTTTAAGTTTTACATTAAGTCTATGATCCATTTTGCATTGATTTTTAAACATGATGTGATTATTGATATTTACAAAGTTCTCTTCTTATACATATAATTTTATCTGATTTTTTTTTTTTCTTTAGATGGAGTCTCACTCTGTCACCCAGCCTGGAGCGCAGTGGTGAGATCTCGGCTCACTGCAAGCTCCGCCTCTTGGGTTCAAGCGATTCTCCTG... | pathogenic | 336,218 |
Benign or pathogenic: chromosome X, position 74524434, gene SLC16A2 (solute carrier family 16 member 2) variant? Disease(s) if pathogenic? | pathogenic; ['Allan-Herndon-Dudley_syndrome'] | CTGTCCAACTGGGACAGAGAAGGGAAAAACCGTGTCCTGCCTGGAAACTACTCAGCACTCCCAGGGCAGCAGCTCCAAACCTTTTCAGAACCCCTCTGGTGGTCAGCCTCATTCACCCCCAGCAAGCTGGTGCCTGGCTCCTTGTGGGGAGGAGCTAGGCTTCAAAAGCAGCTCCAGTCTCAGCACTATACAGCAAAGGTCTGTTTTTTAAGACCGAGCAGAGCAAAGTGTAAACGGATTAGCAACATATGGATTCCATTTCCCTTCCAATCCACATGGGCTCAATTACAGGAGGGGAAGGAGCTCAGATGTGGTGTTTT... | CTGTCCAACTGGGACAGAGAAGGGAAAAACCGTGTCCTGCCTGGAAACTACTCAGCACTCCCAGGGCAGCAGCTCCAAACCTTTTCAGAACCCCTCTGGTGGTCAGCCTCATTCACCCCCAGCAAGCTGGTGCCTGGCTCCTTGTGGGGAGGAGCTAGGCTTCAAAAGCAGCTCCAGTCTCAGCACTATACAGCAAAGGTCTGTTTTTTAAGACCGAGCAGAGCAAAGTGTAAACGGATTAGCAACATATGGATTCCATTTCCCTTCCAATCCACATGGGCTCAATTACAGGAGGGGAAGGAGCTCAGATGTGGTGTTTT... | pathogenic | 336,224 |
Gene mutation in NEXMIF (neurite extension and migration factor) at chromosome X, position 74740959—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['X-linked_intellectual_disability,_Cantagrel_type'] | TATCCATTTAAAAATAATTAATGAGCTTTAAACTGTGGGTGAATCTGTGAGATGAGGTAAGAAAATTTGGCACATTTCAAACAGTATCCTTTAATTTTGGTAAATTGTGTAACACAACATATTTTTCCACCATGATCTACAGGTGCTATCCACATAAGTGGGGGTGGTTAATAGCAAGAATCACTGGAATGTTTCTAGTAAATTAACAGGGACAACTTCCCCAAATACAACCAAATGTTGATATAGAAGTAAAAATATATACAGTACAGTCACTTGTTTGTAGTTTGGCACAATGTTTTCAATTTTTTCCTTGTGGGTAA... | TATCCATTTAAAAATAATTAATGAGCTTTAAACTGTGGGTGAATCTGTGAGATGAGGTAAGAAAATTTGGCACATTTCAAACAGTATCCTTTAATTTTGGTAAATTGTGTAACACAACATATTTTTCCACCATGATCTACAGGTGCTATCCACATAAGTGGGGGTGGTTAATAGCAAGAATCACTGGAATGTTTCTAGTAAATTAACAGGGACAACTTCCCCAAATACAACCAAATGTTGATATAGAAGTAAAAATATATACAGTACAGTCACTTGTTTGTAGTTTGGCACAATGTTTTCAATTTTTTCCTTGTGGGTAA... | pathogenic | 336,279 |
Variant in NEXMIF (neurite extension and migration factor), chromosome X, position 74740972—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic | ATAATTAATGAGCTTTAAACTGTGGGTGAATCTGTGAGATGAGGTAAGAAAATTTGGCACATTTCAAACAGTATCCTTTAATTTTGGTAAATTGTGTAACACAACATATTTTTCCACCATGATCTACAGGTGCTATCCACATAAGTGGGGGTGGTTAATAGCAAGAATCACTGGAATGTTTCTAGTAAATTAACAGGGACAACTTCCCCAAATACAACCAAATGTTGATATAGAAGTAAAAATATATACAGTACAGTCACTTGTTTGTAGTTTGGCACAATGTTTTCAATTTTTTCCTTGTGGGTAAATAGTGCATAAAC... | ATAATTAATGAGCTTTAAACTGTGGGTGAATCTGTGAGATGAGGTAAGAAAATTTGGCACATTTCAAACAGTATCCTTTAATTTTGGTAAATTGTGTAACACAACATATTTTTCCACCATGATCTACAGGTGCTATCCACATAAGTGGGGGTGGTTAATAGCAAGAATCACTGGAATGTTTCTAGTAAATTAACAGGGACAACTTCCCCAAATACAACCAAATGTTGATATAGAAGTAAAAATATATACAGTACAGTCACTTGTTTGTAGTTTGGCACAATGTTTTCAATTTTTTCCTTGTGGGTAAATAGTGCATAAAC... | pathogenic | 336,280 |
The mutation in gene NEXMIF (neurite extension and migration factor) at chromosome X, position 74741098—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['X-linked_intellectual_disability,_Cantagrel_type', 'likely other unspecified diseases'] | CAGGTGCTATCCACATAAGTGGGGGTGGTTAATAGCAAGAATCACTGGAATGTTTCTAGTAAATTAACAGGGACAACTTCCCCAAATACAACCAAATGTTGATATAGAAGTAAAAATATATACAGTACAGTCACTTGTTTGTAGTTTGGCACAATGTTTTCAATTTTTTCCTTGTGGGTAAATAGTGCATAAACTACTTGTGCAACTGTATGACTTTTTAAGTCTTTTACATAGAACATGAGATTAAAGTTTGCTCCAAAGACGTATTCCCACAATTTAAAATTCTTTTCTTTAAGCACTTACATGTCAACATACATACC... | CAGGTGCTATCCACATAAGTGGGGGTGGTTAATAGCAAGAATCACTGGAATGTTTCTAGTAAATTAACAGGGACAACTTCCCCAAATACAACCAAATGTTGATATAGAAGTAAAAATATATACAGTACAGTCACTTGTTTGTAGTTTGGCACAATGTTTTCAATTTTTTCCTTGTGGGTAAATAGTGCATAAACTACTTGTGCAACTGTATGACTTTTTAAGTCTTTTACATAGAACATGAGATTAAAGTTTGCTCCAAAGACGTATTCCCACAATTTAAAATTCTTTTCTTTAAGCACTTACATGTCAACATACATACC... | pathogenic | 336,285 |
A genetic variant on chromosome X, position 74741667, affects the gene NEXMIF (neurite extension and migration factor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['X-linked_intellectual_disability,_Cantagrel_type'] | ACAAATAGCATGGGGCACTAGAAAGCCCTCCTATTTGCCACATGTTCAGATTTTGTTTTCCAGCTAATGCTCTTTTGTTTAAATGATCTTGGCTTTTTGTCTACATGACTTTTAAATTCTATTTTTCAAAATCTGTCTTACTGCAAAGCCTTTCACTTCCAAAAATCATTCAAGAGCATATTTTAATTCTATTTTCTTAATATGTAGTAACTAGTGATGAATAGCAGAAGAAGAAATAGCTTTGTTAGAGCTTATCCCTAGCCAAGCCACAACAAAATTGCCCAATCTTTTGGGTGGCTTAAAGGTATAGGGATTTTCAT... | ACAAATAGCATGGGGCACTAGAAAGCCCTCCTATTTGCCACATGTTCAGATTTTGTTTTCCAGCTAATGCTCTTTTGTTTAAATGATCTTGGCTTTTTGTCTACATGACTTTTAAATTCTATTTTTCAAAATCTGTCTTACTGCAAAGCCTTTCACTTCCAAAAATCATTCAAGAGCATATTTTAATTCTATTTTCTTAATATGTAGTAACTAGTGATGAATAGCAGAAGAAGAAATAGCTTTGTTAGAGCTTATCCCTAGCCAAGCCACAACAAAATTGCCCAATCTTTTGGGTGGCTTAAAGGTATAGGGATTTTCAT... | pathogenic | 336,296 |
Is the chromosome X, position 74742959 variant in NEXMIF (neurite extension and migration factor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['X-linked_intellectual_disability,_Cantagrel_type'] | AGTTTTTGCCAGGTGGTTTTTCAATCCCCTTGTTGTTACCTTTGAGGGATTTTTTCCTGGTGTTTTTCTGAGAAGAGCTTTGGTTCATAGCCCCACTCTTGCTGGGTGAACTTTTCTTTCTTGATTTTGACACTTTGTTGTTGGTACTAATTTGACCAGATGGATCATTAAATGTTGACAGGCAAGGGTTTTTTTGGAGCAGGCTGACAGAATCCTCATCATTGAACATATGGAACTGAAACTGGTGATTATTTAAAGTAAATCCATCCTCCATTTGGACCTGCCGTGAAAGGGTACTGCAGTCCCACTTGATTTTTTCC... | AGTTTTTGCCAGGTGGTTTTTCAATCCCCTTGTTGTTACCTTTGAGGGATTTTTTCCTGGTGTTTTTCTGAGAAGAGCTTTGGTTCATAGCCCCACTCTTGCTGGGTGAACTTTTCTTTCTTGATTTTGACACTTTGTTGTTGGTACTAATTTGACCAGATGGATCATTAAATGTTGACAGGCAAGGGTTTTTTTGGAGCAGGCTGACAGAATCCTCATCATTGAACATATGGAACTGAAACTGGTGATTATTTAAAGTAAATCCATCCTCCATTTGGACCTGCCGTGAAAGGGTACTGCAGTCCCACTTGATTTTTTCC... | pathogenic | 336,322 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 74743433, gene NEXMIF (neurite extension and migration factor). What disease(s) is it linked to if pathogenic? | pathogenic | AGTTGGATATATCCAGGAGGTCAGTGGACTCCTTTAGTGGTGCTATCTCATCAATGCTTTGCTGGATCACCAGCTTAGGGCTGCAATGGGCCAGGAAGTCATCAGTGATATCATCATCGCCATCCTTTTCACAGGACTTCAAGCTTAAGGAGCAATAATTACTTGAGCTGACAGAGAGTGGGGCCATTGAATCAAAGCTAAAGAGCCGACCATCATCCATATTGACTGGCCCCTGCTGGAAAGGAAAGCAGATCTCTCCATTATTAAAGTGACATAATTGGTAAGAGTCATCAGATGGGAGTTGGGTATCTTGCATGGAG... | AGTTGGATATATCCAGGAGGTCAGTGGACTCCTTTAGTGGTGCTATCTCATCAATGCTTTGCTGGATCACCAGCTTAGGGCTGCAATGGGCCAGGAAGTCATCAGTGATATCATCATCGCCATCCTTTTCACAGGACTTCAAGCTTAAGGAGCAATAATTACTTGAGCTGACAGAGAGTGGGGCCATTGAATCAAAGCTAAAGAGCCGACCATCATCCATATTGACTGGCCCCTGCTGGAAAGGAAAGCAGATCTCTCCATTATTAAAGTGACATAATTGGTAAGAGTCATCAGATGGGAGTTGGGTATCTTGCATGGAG... | pathogenic | 336,331 |
A genetic alteration at chromosome X, position 74743433, in gene NEXMIF (neurite extension and migration factor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['X-linked_intellectual_disability,_Cantagrel_type'] | AGTTGGATATATCCAGGAGGTCAGTGGACTCCTTTAGTGGTGCTATCTCATCAATGCTTTGCTGGATCACCAGCTTAGGGCTGCAATGGGCCAGGAAGTCATCAGTGATATCATCATCGCCATCCTTTTCACAGGACTTCAAGCTTAAGGAGCAATAATTACTTGAGCTGACAGAGAGTGGGGCCATTGAATCAAAGCTAAAGAGCCGACCATCATCCATATTGACTGGCCCCTGCTGGAAAGGAAAGCAGATCTCTCCATTATTAAAGTGACATAATTGGTAAGAGTCATCAGATGGGAGTTGGGTATCTTGCATGGAG... | AGTTGGATATATCCAGGAGGTCAGTGGACTCCTTTAGTGGTGCTATCTCATCAATGCTTTGCTGGATCACCAGCTTAGGGCTGCAATGGGCCAGGAAGTCATCAGTGATATCATCATCGCCATCCTTTTCACAGGACTTCAAGCTTAAGGAGCAATAATTACTTGAGCTGACAGAGAGTGGGGCCATTGAATCAAAGCTAAAGAGCCGACCATCATCCATATTGACTGGCCCCTGCTGGAAAGGAAAGCAGATCTCTCCATTATTAAAGTGACATAATTGGTAAGAGTCATCAGATGGGAGTTGGGTATCTTGCATGGAG... | pathogenic | 336,332 |
Determine whether the variant at chromosome X, position 74743506, in gene NEXMIF (neurite extension and migration factor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Inborn_genetic_diseases'] | CTTAGGGCTGCAATGGGCCAGGAAGTCATCAGTGATATCATCATCGCCATCCTTTTCACAGGACTTCAAGCTTAAGGAGCAATAATTACTTGAGCTGACAGAGAGTGGGGCCATTGAATCAAAGCTAAAGAGCCGACCATCATCCATATTGACTGGCCCCTGCTGGAAAGGAAAGCAGATCTCTCCATTATTAAAGTGACATAATTGGTAAGAGTCATCAGATGGGAGTTGGGTATCTTGCATGGAGTCATACAGGACCTTGTTGCAATTACTGCCACCACTATTGAGACAGATTGGATTGTATGTTGTAGGTGTGAGGT... | CTTAGGGCTGCAATGGGCCAGGAAGTCATCAGTGATATCATCATCGCCATCCTTTTCACAGGACTTCAAGCTTAAGGAGCAATAATTACTTGAGCTGACAGAGAGTGGGGCCATTGAATCAAAGCTAAAGAGCCGACCATCATCCATATTGACTGGCCCCTGCTGGAAAGGAAAGCAGATCTCTCCATTATTAAAGTGACATAATTGGTAAGAGTCATCAGATGGGAGTTGGGTATCTTGCATGGAGTCATACAGGACCTTGTTGCAATTACTGCCACCACTATTGAGACAGATTGGATTGTATGTTGTAGGTGTGAGGT... | pathogenic | 336,334 |
A genetic variant on chromosome X, position 74743707, affects the gene NEXMIF (neurite extension and migration factor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic | TAATTGGTAAGAGTCATCAGATGGGAGTTGGGTATCTTGCATGGAGTCATACAGGACCTTGTTGCAATTACTGCCACCACTATTGAGACAGATTGGATTGTATGTTGTAGGTGTGAGGTTATTTTCCATGGAGACTACTTGGGAGGCTCCAAATTCACTGGATTGGGTTGGGGCTATCTCCCTTGAGACTTCAGCCATGAATTCCTGGGTGCCAGAAGTAGCCTTGTTGGGCCACACATTTCTATAGTTGCTTGATTCCATTTTGAAGTTATGAGATGACTGCTGCAGCTCAGAGTCAGAGGATGAGGTGAGCACACAGT... | TAATTGGTAAGAGTCATCAGATGGGAGTTGGGTATCTTGCATGGAGTCATACAGGACCTTGTTGCAATTACTGCCACCACTATTGAGACAGATTGGATTGTATGTTGTAGGTGTGAGGTTATTTTCCATGGAGACTACTTGGGAGGCTCCAAATTCACTGGATTGGGTTGGGGCTATCTCCCTTGAGACTTCAGCCATGAATTCCTGGGTGCCAGAAGTAGCCTTGTTGGGCCACACATTTCTATAGTTGCTTGATTCCATTTTGAAGTTATGAGATGACTGCTGCAGCTCAGAGTCAGAGGATGAGGTGAGCACACAGT... | pathogenic | 336,339 |
Considering the variant on chromosome X, location 74743764, involving gene NEXMIF (neurite extension and migration factor), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Intellectual_disability', 'X-linked_intellectual_disability,_Cantagrel_type'] | CTTGTTGCAATTACTGCCACCACTATTGAGACAGATTGGATTGTATGTTGTAGGTGTGAGGTTATTTTCCATGGAGACTACTTGGGAGGCTCCAAATTCACTGGATTGGGTTGGGGCTATCTCCCTTGAGACTTCAGCCATGAATTCCTGGGTGCCAGAAGTAGCCTTGTTGGGCCACACATTTCTATAGTTGCTTGATTCCATTTTGAAGTTATGAGATGACTGCTGCAGCTCAGAGTCAGAGGATGAGGTGAGCACACAGTCCTGGGTAGGCTGGAGGGGTACAAATGATTTTTCGGTTTGAGTGAGGCTGCCTTCAT... | CTTGTTGCAATTACTGCCACCACTATTGAGACAGATTGGATTGTATGTTGTAGGTGTGAGGTTATTTTCCATGGAGACTACTTGGGAGGCTCCAAATTCACTGGATTGGGTTGGGGCTATCTCCCTTGAGACTTCAGCCATGAATTCCTGGGTGCCAGAAGTAGCCTTGTTGGGCCACACATTTCTATAGTTGCTTGATTCCATTTTGAAGTTATGAGATGACTGCTGCAGCTCAGAGTCAGAGGATGAGGTGAGCACACAGTCCTGGGTAGGCTGGAGGGGTACAAATGATTTTTCGGTTTGAGTGAGGCTGCCTTCAT... | pathogenic | 336,340 |
Chromosome X, position 74743939, gene NEXMIF (neurite extension and migration factor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | CACACATTTCTATAGTTGCTTGATTCCATTTTGAAGTTATGAGATGACTGCTGCAGCTCAGAGTCAGAGGATGAGGTGAGCACACAGTCCTGGGTAGGCTGGAGGGGTACAAATGATTTTTCGGTTTGAGTGAGGCTGCCTTCATTTTGCTCTGGAGAATGGTGGCTGAAGTATGAGATACTAGTGTTATTTGACAAGTCAGAAGCATCTAACAATGTCTGCAGATACCCTCCCGGGATAACAGGTATATTAGTGGTAACATTAGCAGATGATAAAGGCATTTCAGAAGAGCATGTCGTTGGTAGAAAAGTGGAACTCTT... | CACACATTTCTATAGTTGCTTGATTCCATTTTGAAGTTATGAGATGACTGCTGCAGCTCAGAGTCAGAGGATGAGGTGAGCACACAGTCCTGGGTAGGCTGGAGGGGTACAAATGATTTTTCGGTTTGAGTGAGGCTGCCTTCATTTTGCTCTGGAGAATGGTGGCTGAAGTATGAGATACTAGTGTTATTTGACAAGTCAGAAGCATCTAACAATGTCTGCAGATACCCTCCCGGGATAACAGGTATATTAGTGGTAACATTAGCAGATGATAAAGGCATTTCAGAAGAGCATGTCGTTGGTAGAAAAGTGGAACTCTT... | pathogenic | 336,346 |
Evaluate this variant at chromosome X, position 74744134, gene NEXMIF (neurite extension and migration factor): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic | AAGTCAGAAGCATCTAACAATGTCTGCAGATACCCTCCCGGGATAACAGGTATATTAGTGGTAACATTAGCAGATGATAAAGGCATTTCAGAAGAGCATGTCGTTGGTAGAAAAGTGGAACTCTTAGCAGCCTTTGCCTCATGAAATTCAGATAGACGGGAACTGTTTGATGTCCCAGGAATAACTTCATTCTTTAAATTAGCCTTTGAGGATTGGTTTTCCAAGAGAGGGCTCATTTGAACAATTGGCTTGCTTTCTTGCCCAGCAGCTTTGACTTTCTTAGATTTTAACCTAGCTTCACTTTTAAATTTGATTTTATT... | AAGTCAGAAGCATCTAACAATGTCTGCAGATACCCTCCCGGGATAACAGGTATATTAGTGGTAACATTAGCAGATGATAAAGGCATTTCAGAAGAGCATGTCGTTGGTAGAAAAGTGGAACTCTTAGCAGCCTTTGCCTCATGAAATTCAGATAGACGGGAACTGTTTGATGTCCCAGGAATAACTTCATTCTTTAAATTAGCCTTTGAGGATTGGTTTTCCAAGAGAGGGCTCATTTGAACAATTGGCTTGCTTTCTTGCCCAGCAGCTTTGACTTTCTTAGATTTTAACCTAGCTTCACTTTTAAATTTGATTTTATT... | pathogenic | 336,348 |
Mutation found at chromosome X position 75069468, gene ABCB7 (ATP binding cassette subfamily B member 7): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GTAGTCACAGCTCAGAATCCAGTTCACTTGACACACAGTTTAGATTAGTGTTTCTTTTTCCTTTTTTTTTCTTTTTTATTTTTGAGACTGAGTCTAGCTCTGTTGCCTAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCAAGTAGCTAGGATTACAGACACCTGCCACCATGCTCAGCTAATTTTTCTATTTTTACTAGAGACGGGGTTTCATCATGCTGGCCAGGCTGGTCTCAAACTCCCGACCTTAGGCGATCTGCCTGCCTTGGC... | GTAGTCACAGCTCAGAATCCAGTTCACTTGACACACAGTTTAGATTAGTGTTTCTTTTTCCTTTTTTTTTCTTTTTTATTTTTGAGACTGAGTCTAGCTCTGTTGCCTAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCAAGTAGCTAGGATTACAGACACCTGCCACCATGCTCAGCTAATTTTTCTATTTTTACTAGAGACGGGGTTTCATCATGCTGGCCAGGCTGGTCTCAAACTCCCGACCTTAGGCGATCTGCCTGCCTTGGC... | benign | 336,368 |
Mutation found at chromosome X position 75099067, gene ABCB7 (ATP binding cassette subfamily B member 7): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | ACTTGAATTCATCTTTTACACATGGCCAGATTAATTTCCTAAAACACAGTTCTAACCTTATTACTCATCTATTCAAAATACAGGTTCCCACTTCCCACATAATTAAATACATTTTTCTGTCTCACAGTCACAATATTTCACATTTACGAGCTCTAATCTGTCTTTCCAAGCTTATTTCCGAATTCTCTGAAACATCTTCCCCTCGCTGGAACCAGGATAGACTACTCACTTCTGTACACATACTATGCTCTCTCACAACTAGGCCATTTTTCATGTTATTCCTACACCTGTAATAATCCTACTCATCAATCAAGGTCTAT... | ACTTGAATTCATCTTTTACACATGGCCAGATTAATTTCCTAAAACACAGTTCTAACCTTATTACTCATCTATTCAAAATACAGGTTCCCACTTCCCACATAATTAAATACATTTTTCTGTCTCACAGTCACAATATTTCACATTTACGAGCTCTAATCTGTCTTTCCAAGCTTATTTCCGAATTCTCTGAAACATCTTCCCCTCGCTGGAACCAGGATAGACTACTCACTTCTGTACACATACTATGCTCTCTCACAACTAGGCCATTTTTCATGTTATTCCTACACCTGTAATAATCCTACTCATCAATCAAGGTCTAT... | benign | 336,377 |
Evaluate if the mutation on chromosome X at position 77508462 in ATRX (ATRX chromatin remodeler) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | GTTGCCTAAAATTTTCACATCTATGTCTTTGAGTAAATAATTAGACCATGTTGAAAATTCCCAGGTCTAGTAAATCAGGTTTAAAATATTCTGAACTTGTAGAAATACCAACTGGTAACAGTTGGCCAGAGTGTACTGCCTTCAAATATTTCTCATAAATCTTGTCTTTTTCATTTTTTCTAAAGTAAATACACACCTGCCCCACCCAATTAAATAAATCTGATTACATGGCTAGCATAATATCTAAATATACAGGATTTATTAGTGATATTTCATCATGGGAAAGTGGGGGAGAGGGGCGTGGATCCACCAAACCTCAC... | GTTGCCTAAAATTTTCACATCTATGTCTTTGAGTAAATAATTAGACCATGTTGAAAATTCCCAGGTCTAGTAAATCAGGTTTAAAATATTCTGAACTTGTAGAAATACCAACTGGTAACAGTTGGCCAGAGTGTACTGCCTTCAAATATTTCTCATAAATCTTGTCTTTTTCATTTTTTCTAAAGTAAATACACACCTGCCCCACCCAATTAAATAAATCTGATTACATGGCTAGCATAATATCTAAATATACAGGATTTATTAGTGATATTTCATCATGGGAAAGTGGGGGAGAGGGGCGTGGATCCACCAAACCTCAC... | pathogenic | 336,402 |
Is the genetic mutation found on chromosome X at position 77508624, within the gene ATRX (ATRX chromatin remodeler), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Alpha_thalassemia-X-linked_intellectual_disability_syndrome', 'Global_developmental_delay'] | TGTCTTTTTCATTTTTTCTAAAGTAAATACACACCTGCCCCACCCAATTAAATAAATCTGATTACATGGCTAGCATAATATCTAAATATACAGGATTTATTAGTGATATTTCATCATGGGAAAGTGGGGGAGAGGGGCGTGGATCCACCAAACCTCACAAATTCTGTATCACAATCCTAGTGCTCTTGGATGTTTTACCACTAGTTCTTCCAAGATAAAAATGGCAATCTCTTAATCATCCAAACAACTCAAAGCAGTTTTAGCTAATGTTAAACTCATTCTAATCCAGTGATACCTAAAGCAAAGCCCAAACCCAGTTT... | TGTCTTTTTCATTTTTTCTAAAGTAAATACACACCTGCCCCACCCAATTAAATAAATCTGATTACATGGCTAGCATAATATCTAAATATACAGGATTTATTAGTGATATTTCATCATGGGAAAGTGGGGGAGAGGGGCGTGGATCCACCAAACCTCACAAATTCTGTATCACAATCCTAGTGCTCTTGGATGTTTTACCACTAGTTCTTCCAAGATAAAAATGGCAATCTCTTAATCATCCAAACAACTCAAAGCAGTTTTAGCTAATGTTAAACTCATTCTAATCCAGTGATACCTAAAGCAAAGCCCAAACCCAGTTT... | pathogenic | 336,405 |
Classify the chromosome X variant at position 77599584 affecting gene ATRX (ATRX chromatin remodeler) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ATACTCACAAACTATGTATCCAACAATGAATATCCAGAATCTATAAGGAACTTAATTCAACAGCAAAAAAACAAGTAACTCCATTAAAAAGTGGGCAAAAGACAAGAACAGATACTTCTCAAAAGAGAACATACAAGCAGCCAACAAACATGAAAAATGCTCATCATCATTAACCACAGGAGAAATGCAAATCCAAACCACAATGAGACACAATCTCACACCAGTCAGAATGGCTATTATTAAAAAGTCAAAAAACAGCAGATGCTGGAGAAGGGGCAAAGAAAAGGGAACATTTATGTTGGTGGGATTGTAAATTAGTT... | ATACTCACAAACTATGTATCCAACAATGAATATCCAGAATCTATAAGGAACTTAATTCAACAGCAAAAAAACAAGTAACTCCATTAAAAAGTGGGCAAAAGACAAGAACAGATACTTCTCAAAAGAGAACATACAAGCAGCCAACAAACATGAAAAATGCTCATCATCATTAACCACAGGAGAAATGCAAATCCAAACCACAATGAGACACAATCTCACACCAGTCAGAATGGCTATTATTAAAAAGTCAAAAAACAGCAGATGCTGGAGAAGGGGCAAAGAAAAGGGAACATTTATGTTGGTGGGATTGTAAATTAGTT... | benign | 336,433 |
Is the genetic mutation found on chromosome X at position 77599584, within the gene ATRX (ATRX chromatin remodeler), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ATACTCACAAACTATGTATCCAACAATGAATATCCAGAATCTATAAGGAACTTAATTCAACAGCAAAAAAACAAGTAACTCCATTAAAAAGTGGGCAAAAGACAAGAACAGATACTTCTCAAAAGAGAACATACAAGCAGCCAACAAACATGAAAAATGCTCATCATCATTAACCACAGGAGAAATGCAAATCCAAACCACAATGAGACACAATCTCACACCAGTCAGAATGGCTATTATTAAAAAGTCAAAAAACAGCAGATGCTGGAGAAGGGGCAAAGAAAAGGGAACATTTATGTTGGTGGGATTGTAAATTAGTT... | ATACTCACAAACTATGTATCCAACAATGAATATCCAGAATCTATAAGGAACTTAATTCAACAGCAAAAAAACAAGTAACTCCATTAAAAAGTGGGCAAAAGACAAGAACAGATACTTCTCAAAAGAGAACATACAAGCAGCCAACAAACATGAAAAATGCTCATCATCATTAACCACAGGAGAAATGCAAATCCAAACCACAATGAGACACAATCTCACACCAGTCAGAATGGCTATTATTAAAAAGTCAAAAAACAGCAGATGCTGGAGAAGGGGCAAAGAAAAGGGAACATTTATGTTGGTGGGATTGTAAATTAGTT... | benign | 336,434 |
The chromosome X, position 77652291 genetic variant in gene ATRX (ATRX chromatin remodeler): benign or pathogenic? If pathogenic, indicate disease(s). | benign | AGTACCTCTTAATGAGATCCAAAAGGAAGTACATATTACTGCCCATGAGTATTTCTACCAAAAAGAGAACTGAATCTAAATCTGATCAGGACTCTAGATCTTATTACCAATTTATACGAAATATAGAAGCCAGTGAAACTGTACCACAGGGATGCAAATAACAAAACTCAGAATATAGAAAATTTTACAAAAATAATCTGGTTTCTTAAGCAAATGAACTGTAAGAATGGGTAAAGAAAAAGAAAGAACCAAAGAGAAACTAGGTTAAAATTAGGTAAGAGATGTAACATCCAAATACAACAGAATATGCAGATGGCCCT... | AGTACCTCTTAATGAGATCCAAAAGGAAGTACATATTACTGCCCATGAGTATTTCTACCAAAAAGAGAACTGAATCTAAATCTGATCAGGACTCTAGATCTTATTACCAATTTATACGAAATATAGAAGCCAGTGAAACTGTACCACAGGGATGCAAATAACAAAACTCAGAATATAGAAAATTTTACAAAAATAATCTGGTTTCTTAAGCAAATGAACTGTAAGAATGGGTAAAGAAAAAGAAAGAACCAAAGAGAAACTAGGTTAAAATTAGGTAAGAGATGTAACATCCAAATACAACAGAATATGCAGATGGCCCT... | benign | 336,460 |
The mutation in gene ATRX (ATRX chromatin remodeler) at chromosome X, position 77696709—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TAAGTTTTCATTAGTTCTCTCAAGAGCAAATAAGACAGGCATAGTAAAAAGGGTTTAGGTTTCAATGTTTACCTACATTGCTGGGCTTAGTAACTGGCTATCATTGGCAACAATTAAGGAAAAAAAAGCAGGTAGTCACCAGGGGCTTTCTCTGAAATATGGCTCTATGTTATTCAACAAGCAAATTTTGACAAGTTATAGCATCTAGTTGTTAAATGAGTTTCTGAGTCTCTGAAAGGGTGGGGGGGGGGAGGACACAGATGATTGAGATTTTACAGATTGTAGTAAAATTAAATAATCCCCACCAAAAAAAAGTTATT... | TAAGTTTTCATTAGTTCTCTCAAGAGCAAATAAGACAGGCATAGTAAAAAGGGTTTAGGTTTCAATGTTTACCTACATTGCTGGGCTTAGTAACTGGCTATCATTGGCAACAATTAAGGAAAAAAAAGCAGGTAGTCACCAGGGGCTTTCTCTGAAATATGGCTCTATGTTATTCAACAAGCAAATTTTGACAAGTTATAGCATCTAGTTGTTAAATGAGTTTCTGAGTCTCTGAAAGGGTGGGGGGGGGGAGGACACAGATGATTGAGATTTTACAGATTGTAGTAAAATTAAATAATCCCCACCAAAAAAAAGTTATT... | benign | 336,562 |
Does the variant impacting MAGT1 (magnesium transporter 1) on chromosome X, position 77857403, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['X-linked_immunodeficiency_with_magnesium_defect,_Epstein-Barr_virus_infection_and_neoplasia'] | TCAGTGATGGAAGCTTGTTAACACAAGAGAGATTGAAAAGTGAAGACTAAATCCAGCTCCTTCATATGCTGGCACTGTTCTCACAGGGTAATAATCATTGAGTTAACTTTGGTCTACAAAGGAAAGAAATCCCAGACTTCCCTTACCACATGTCCCGTGTGGGGATTCTTATGGGCATATGGTGGTCCTCTTATATGGTTCCACATTTGACCAGATGTCATAGCAAGCACAAAACACTAGGAAACAAAAAAATAATAAAATATTCATGGTCAAACTGTTCTTGTCTTGATTAGATAACAGGAATATGAAAATGTGCATCT... | TCAGTGATGGAAGCTTGTTAACACAAGAGAGATTGAAAAGTGAAGACTAAATCCAGCTCCTTCATATGCTGGCACTGTTCTCACAGGGTAATAATCATTGAGTTAACTTTGGTCTACAAAGGAAAGAAATCCCAGACTTCCCTTACCACATGTCCCGTGTGGGGATTCTTATGGGCATATGGTGGTCCTCTTATATGGTTCCACATTTGACCAGATGTCATAGCAAGCACAAAACACTAGGAAACAAAAAAATAATAAAATATTCATGGTCAAACTGTTCTTGTCTTGATTAGATAACAGGAATATGAAAATGTGCATCT... | pathogenic | 336,578 |
Mutation found at chromosome X position 77988540, gene ATP7A (ATPase copper transporting alpha): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['ATP7A-related_disorder', 'Cutis_laxa,_X-linked', 'Menkes_kinky-hair_syndrome', 'X-linked_distal_spinal_muscular_atrophy_type_3'] | GGTCCAGCACTGAATTTATCATCTCTCCTTTCCCTCCACTTTAACCTCTTAATTTCCTCCTGATTTCCTCCTCTCTTTCTGATATCAGTTAATGACGCCACCATCTATCTATCCACTGGCCCAAGCCAGATACCTTTAAGTCATCCTAGTCGTCTCCTTTATCCTATACATCTTGTTAGGAGGCCCTACCCTCCTGAATGTATCTTGGAGCTGCCTCTTTTATCTTTGCCCCCAGTATTCATGTCTTAATTCAGACCCTCTATTGCACTACTTTTGCAATTGCAGTAGCCTCCTAGCTGATAGTCCTCCCTCCTGTATCA... | GGTCCAGCACTGAATTTATCATCTCTCCTTTCCCTCCACTTTAACCTCTTAATTTCCTCCTGATTTCCTCCTCTCTTTCTGATATCAGTTAATGACGCCACCATCTATCTATCCACTGGCCCAAGCCAGATACCTTTAAGTCATCCTAGTCGTCTCCTTTATCCTATACATCTTGTTAGGAGGCCCTACCCTCCTGAATGTATCTTGGAGCTGCCTCTTTTATCTTTGCCCCCAGTATTCATGTCTTAATTCAGACCCTCTATTGCACTACTTTTGCAATTGCAGTAGCCTCCTAGCTGATAGTCCTCCCTCCTGTATCA... | pathogenic | 336,595 |
Classify the chromosome X variant at position 77988587 affecting gene ATP7A (ATPase copper transporting alpha) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cutis_laxa,_X-linked', 'Menkes_kinky-hair_syndrome', 'X-linked_distal_spinal_muscular_atrophy_type_3'] | CTTAATTTCCTCCTGATTTCCTCCTCTCTTTCTGATATCAGTTAATGACGCCACCATCTATCTATCCACTGGCCCAAGCCAGATACCTTTAAGTCATCCTAGTCGTCTCCTTTATCCTATACATCTTGTTAGGAGGCCCTACCCTCCTGAATGTATCTTGGAGCTGCCTCTTTTATCTTTGCCCCCAGTATTCATGTCTTAATTCAGACCCTCTATTGCACTACTTTTGCAATTGCAGTAGCCTCCTAGCTGATAGTCCTCCCTCCTGTATCACTCCACCCTACTACACTATCATCTTCCACACTGCCTCCAGAATGATC... | CTTAATTTCCTCCTGATTTCCTCCTCTCTTTCTGATATCAGTTAATGACGCCACCATCTATCTATCCACTGGCCCAAGCCAGATACCTTTAAGTCATCCTAGTCGTCTCCTTTATCCTATACATCTTGTTAGGAGGCCCTACCCTCCTGAATGTATCTTGGAGCTGCCTCTTTTATCTTTGCCCCCAGTATTCATGTCTTAATTCAGACCCTCTATTGCACTACTTTTGCAATTGCAGTAGCCTCCTAGCTGATAGTCCTCCCTCCTGTATCACTCCACCCTACTACACTATCATCTTCCACACTGCCTCCAGAATGATC... | pathogenic | 336,596 |
Considering the variant on chromosome X, location 77989894, involving gene ATP7A (ATPase copper transporting alpha), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cutis_laxa,_X-linked', 'Menkes_kinky-hair_syndrome', 'X-linked_distal_spinal_muscular_atrophy_type_3'] | TATTACCTTTTATTTTTCTGTAGCTGATCCTGTTTCATGTATAACCTTTTCAGTTGGTAGAGTGTGAAGTGTTGGAGTAATTTATGAAAGGAATGGAAGGAAAGAGTAGTTTGTACTCTGTTGTGAAATTCTTGGGTGTGTTTGTCAATATACATGTTTCAAATGCCTGATAGGTACCACAGTCACATATGTCTGCATATATAACTTTACCATTCTTGTAGGTACACAAGACATTTTATGTTTCTTTCTAACAAGAAGAGTAAAAATGAAAACTAATAGGGAAACTCCATTAGATTGAGTTGTCTCACTCTTCTTGAATG... | TATTACCTTTTATTTTTCTGTAGCTGATCCTGTTTCATGTATAACCTTTTCAGTTGGTAGAGTGTGAAGTGTTGGAGTAATTTATGAAAGGAATGGAAGGAAAGAGTAGTTTGTACTCTGTTGTGAAATTCTTGGGTGTGTTTGTCAATATACATGTTTCAAATGCCTGATAGGTACCACAGTCACATATGTCTGCATATATAACTTTACCATTCTTGTAGGTACACAAGACATTTTATGTTTCTTTCTAACAAGAAGAGTAAAAATGAAAACTAATAGGGAAACTCCATTAGATTGAGTTGTCTCACTCTTCTTGAATG... | pathogenic | 336,616 |
Considering the genetic mutation at chromosome X, position 78021079, impacting ATP7A (ATPase copper transporting alpha): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cutis_laxa,_X-linked', 'Menkes_kinky-hair_syndrome', 'X-linked_distal_spinal_muscular_atrophy_type_3'] | CATGTGGGGATTACAATTAGAGATGAAACTTGGGTGGGGACACAGAGCCAAACCGTATCAACTATTGAAGACTTTTATCACTGGAGATTATTAGCTGCTAGAATGCATAACCAAAGGAAGTTGTCTCAGTTTCCTGTAGACTTGATGGACTTTGGCAAATTTTCCTGGGCAAATACCTATTCTGCCCTTCCTGCTGTAAAGACTGGTCTAATCTGAGCTATGACACGAGTCCAGGTTTTCCACATCAGGGTCTACTCTAAGGGAATAGGCCTGGCATAGTTTTAGAAATTTTAGGTAACTAAGGCCAATCTGAGGCAGAA... | CATGTGGGGATTACAATTAGAGATGAAACTTGGGTGGGGACACAGAGCCAAACCGTATCAACTATTGAAGACTTTTATCACTGGAGATTATTAGCTGCTAGAATGCATAACCAAAGGAAGTTGTCTCAGTTTCCTGTAGACTTGATGGACTTTGGCAAATTTTCCTGGGCAAATACCTATTCTGCCCTTCCTGCTGTAAAGACTGGTCTAATCTGAGCTATGACACGAGTCCAGGTTTTCCACATCAGGGTCTACTCTAAGGGAATAGGCCTGGCATAGTTTTAGAAATTTTAGGTAACTAAGGCCAATCTGAGGCAGAA... | pathogenic | 336,662 |
Mutation found at chromosome X position 78033596, gene ATP7A (ATPase copper transporting alpha): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CTCTAGGAACAGCCATAACCAAATATTGCAAACAGGTACATTTTTTTCCTCTTGTTTATTAGTGTAGTCATCTCCTGTAGGAATTCCCCGGATCAAATCTAGTCTGGTGTTTGACTGTGATTTGCATATATAGTTGGTATGAGGCTAAAAAGACTTGTATTTTCTCATTTAATTGTATGTAACTTATTTCTTCATACAGACAAGTATACAGATGAAAACAAATGAACTATAATCCTATCACACAGATAACTCCTGTTGACATAAAAAATTAAAATAGAAGTTATACATATTTGTGGTAGGACAATTCAGATAGTTCAGAG... | CTCTAGGAACAGCCATAACCAAATATTGCAAACAGGTACATTTTTTTCCTCTTGTTTATTAGTGTAGTCATCTCCTGTAGGAATTCCCCGGATCAAATCTAGTCTGGTGTTTGACTGTGATTTGCATATATAGTTGGTATGAGGCTAAAAAGACTTGTATTTTCTCATTTAATTGTATGTAACTTATTTCTTCATACAGACAAGTATACAGATGAAAACAAATGAACTATAATCCTATCACACAGATAACTCCTGTTGACATAAAAAATTAAAATAGAAGTTATACATATTTGTGGTAGGACAATTCAGATAGTTCAGAG... | benign | 336,671 |
Regarding the variant at chromosome X and position 78124854, affecting gene PGK1 (phosphoglycerate kinase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TAAGTGATGATTCTTGCTTTCTCTTGTAGAGCTAAAGTTGCAGACAAGATCCAGCTCATCAATAATATGCTGGACAAAGTCAATGAGATGATTATTGGTGGTGGAATGGCTTTTACCTTCCTTAAGGTGCTCAACAACATGGAGGTAGGAAACAAATGCCAAGTGGATGTGAAATAGCTCTCCATGATAATAGCAGGTTGTATAAATGTAAAAAGAAAACAGTCTTTTGACATGAGCCCTGAAAATTCCCATTTTTATTTATTTTGGCAAGTCTTTCGTCTTTGCATTGTTCCTTTATATTGTATTGTGTCTGGTTCCTG... | TAAGTGATGATTCTTGCTTTCTCTTGTAGAGCTAAAGTTGCAGACAAGATCCAGCTCATCAATAATATGCTGGACAAAGTCAATGAGATGATTATTGGTGGTGGAATGGCTTTTACCTTCCTTAAGGTGCTCAACAACATGGAGGTAGGAAACAAATGCCAAGTGGATGTGAAATAGCTCTCCATGATAATAGCAGGTTGTATAAATGTAAAAAGAAAACAGTCTTTTGACATGAGCCCTGAAAATTCCCATTTTTATTTATTTTGGCAAGTCTTTCGTCTTTGCATTGTTCCTTTATATTGTATTGTGTCTGGTTCCTG... | benign | 336,716 |
Regarding the variant found on chromosome X at position 80676332 in gene BRWD3 (bromodomain and WD repeat domain containing 3): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GACATTTGGGAAATAAATGTGGCATTTTTATTTTTCAAAATAAATTATAAATAAAGCTCCAGATAGCCAAAATCACACAAATGTCAATTCTTCTACATTTCAAGAGGTCAGCTCTTCATAGAAGAATGTCAACAAAAAATTTCAAACTAAAATGATACATGTGATCCATATTTGGGTATATCCAGGAATTTAAGTAACTATGTTACTTAGATCAGGATAAGCCAAAGTATTATTGATTTCAGGAATACAGGCACAATTTAGTCTAAATGCCCAAGAGATAAATAACCGAAACAGCACATTTTAGCAAAAATCAAATGTAG... | GACATTTGGGAAATAAATGTGGCATTTTTATTTTTCAAAATAAATTATAAATAAAGCTCCAGATAGCCAAAATCACACAAATGTCAATTCTTCTACATTTCAAGAGGTCAGCTCTTCATAGAAGAATGTCAACAAAAAATTTCAAACTAAAATGATACATGTGATCCATATTTGGGTATATCCAGGAATTTAAGTAACTATGTTACTTAGATCAGGATAAGCCAAAGTATTATTGATTTCAGGAATACAGGCACAATTTAGTCTAAATGCCCAAGAGATAAATAACCGAAACAGCACATTTTAGCAAAAATCAAATGTAG... | benign | 336,751 |
Mutation at chromosome X, position 80687100, within BRWD3 (bromodomain and WD repeat domain containing 3): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AAAAACAGAAGTATATTCTAACACAGTATGGCTTATGTTAGAACTTGTGTAGTATGATGACCAAAATTTAAAAGACTCAGACTGCTTGCTGAATGAAGTCCCAGTGGGAATAATCAGCTGCAATACAGACACAATTATATTGTGTAATTGATGTTTTCTACTCTGCTGCAGTAGCTTCAGATCTACATAAAAAAGTAAACATTTACAAGGAGGATACAAAGAACAGTCTTGAGAACACATGTTGATTCAGAAAGAGGAACAAAAAAATAAATGACCAAAAAATCAAACAAAGGTAAAAAGGGGAGCAGAGTTAGAAGGCA... | AAAAACAGAAGTATATTCTAACACAGTATGGCTTATGTTAGAACTTGTGTAGTATGATGACCAAAATTTAAAAGACTCAGACTGCTTGCTGAATGAAGTCCCAGTGGGAATAATCAGCTGCAATACAGACACAATTATATTGTGTAATTGATGTTTTCTACTCTGCTGCAGTAGCTTCAGATCTACATAAAAAAGTAAACATTTACAAGGAGGATACAAAGAACAGTCTTGAGAACACATGTTGATTCAGAAAGAGGAACAAAAAAATAAATGACCAAAAAATCAAACAAAGGTAAAAAGGGGAGCAGAGTTAGAAGGCA... | benign | 336,766 |
Mutation found at chromosome X position 80736091, gene BRWD3 (bromodomain and WD repeat domain containing 3): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CAGATCAGAAAAGAAATGAAATAAGCTTTCCAAGGATGTTCAAAAATAAAGCAACCGTTTCTGATTTTCTCTTACCGTATGTGACTCTAATTCAGCAATTTTCTCAGGAACCTCAGAACCCAAATAATATATTCTAATCACATGGTCAGTACTACCAGTTGTAATGAACATACCACCTAGAAGATTAAAAAACAAAACAAAACATAGTACCAAGGAACCTTAAAAACCCTCTCATTACTTCCTTAGTTGTATGCTACCTTGCATTAGTAAAAAGGCTTAAAGAAACACAAGGTTGTCTTCTAATTATTGGAGACATACTA... | CAGATCAGAAAAGAAATGAAATAAGCTTTCCAAGGATGTTCAAAAATAAAGCAACCGTTTCTGATTTTCTCTTACCGTATGTGACTCTAATTCAGCAATTTTCTCAGGAACCTCAGAACCCAAATAATATATTCTAATCACATGGTCAGTACTACCAGTTGTAATGAACATACCACCTAGAAGATTAAAAAACAAAACAAAACATAGTACCAAGGAACCTTAAAAACCCTCTCATTACTTCCTTAGTTGTATGCTACCTTGCATTAGTAAAAAGGCTTAAAGAAACACAAGGTTGTCTTCTAATTATTGGAGACATACTA... | benign | 336,801 |
A genetic variant at chromosome X, position 80736091, affecting gene BRWD3 (bromodomain and WD repeat domain containing 3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CAGATCAGAAAAGAAATGAAATAAGCTTTCCAAGGATGTTCAAAAATAAAGCAACCGTTTCTGATTTTCTCTTACCGTATGTGACTCTAATTCAGCAATTTTCTCAGGAACCTCAGAACCCAAATAATATATTCTAATCACATGGTCAGTACTACCAGTTGTAATGAACATACCACCTAGAAGATTAAAAAACAAAACAAAACATAGTACCAAGGAACCTTAAAAACCCTCTCATTACTTCCTTAGTTGTATGCTACCTTGCATTAGTAAAAAGGCTTAAAGAAACACAAGGTTGTCTTCTAATTATTGGAGACATACTA... | CAGATCAGAAAAGAAATGAAATAAGCTTTCCAAGGATGTTCAAAAATAAAGCAACCGTTTCTGATTTTCTCTTACCGTATGTGACTCTAATTCAGCAATTTTCTCAGGAACCTCAGAACCCAAATAATATATTCTAATCACATGGTCAGTACTACCAGTTGTAATGAACATACCACCTAGAAGATTAAAAAACAAAACAAAACATAGTACCAAGGAACCTTAAAAACCCTCTCATTACTTCCTTAGTTGTATGCTACCTTGCATTAGTAAAAAGGCTTAAAGAAACACAAGGTTGTCTTCTAATTATTGGAGACATACTA... | benign | 336,802 |
For chromosome X, position 80744297, gene BRWD3 (bromodomain and WD repeat domain containing 3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TGTTCTGTTCCATTGGTCTATATTTCTGTTTTAGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCTGGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATGTGGGCTCTTTTTTGGTTCTGTAGTTTTTTCCAATTCTGTGAAGAAAGTTATTGGTAGCTTGATGGGGATGGCATTGAATCTATAAATTACCTTGGACAGTATGGCCATTTTCACGATACTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTATCCTCTTTTATT... | TGTTCTGTTCCATTGGTCTATATTTCTGTTTTAGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCTGGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATGTGGGCTCTTTTTTGGTTCTGTAGTTTTTTCCAATTCTGTGAAGAAAGTTATTGGTAGCTTGATGGGGATGGCATTGAATCTATAAATTACCTTGGACAGTATGGCCATTTTCACGATACTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTATCCTCTTTTATT... | benign | 336,808 |
The mutation in gene BRWD3 (bromodomain and WD repeat domain containing 3) at chromosome X, position 80809411—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTGTTGTAAGATAACACAAACAAAAATAACAAAATGAACATTGAAGCAATTTAAATATAGTCTTATTGCAAGCAAATTTTAAATCATTTATATTTAGAGTCTATCATACACCGCCAACTTTCTTTAACTTTGTCCGATTTTCCTCCACTTGGATCTTACTTGAAGGAAAGATAGCTGAATTTAGATTTTAGTAACATCATTCCTTTCTCCTTTCACTACCCTCCAATGCACTGTGGCAGCAGCTAACACAAGGGAACCTCCCCCGCAAAATAAAAAGGATCACCTGTTTTTGTGTGTCAATGCTGAACACAAGGTACATT... | CTGTTGTAAGATAACACAAACAAAAATAACAAAATGAACATTGAAGCAATTTAAATATAGTCTTATTGCAAGCAAATTTTAAATCATTTATATTTAGAGTCTATCATACACCGCCAACTTTCTTTAACTTTGTCCGATTTTCCTCCACTTGGATCTTACTTGAAGGAAAGATAGCTGAATTTAGATTTTAGTAACATCATTCCTTTCTCCTTTCACTACCCTCCAATGCACTGTGGCAGCAGCTAACACAAGGGAACCTCCCCCGCAAAATAAAAAGGATCACCTGTTTTTGTGTGTCAATGCTGAACACAAGGTACATT... | benign | 336,818 |
Clinically, how would you classify the variant at chromosome X, position 80809700, gene BRWD3 (bromodomain and WD repeat domain containing 3): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TTGTGTGTCAATGCTGAACACAAGGTACATTTATACTATGAATTATATTTGCAGGAGAAACAACATAGACCAATGCCTTTGGTCCTTCACTAAAGTATATTCCATTTTTAAATATGTCCATTGTTGTCTCCTTGTAAACCCAAAATCGTGTTTCACCAATTCTCAAAAAGTGATAACTCAGTTTCTATTTAGTGAAAACGGGTCTATGCAAATGCGACTTAACTGATAATTGAATGAGCTTATAAAATCGGAGATACGTAACGATTATGCTTTTACTCAGTAGACCATTACCTAACCGGCAAAATTTGAAATTGGCTTGA... | TTGTGTGTCAATGCTGAACACAAGGTACATTTATACTATGAATTATATTTGCAGGAGAAACAACATAGACCAATGCCTTTGGTCCTTCACTAAAGTATATTCCATTTTTAAATATGTCCATTGTTGTCTCCTTGTAAACCCAAAATCGTGTTTCACCAATTCTCAAAAAGTGATAACTCAGTTTCTATTTAGTGAAAACGGGTCTATGCAAATGCGACTTAACTGATAATTGAATGAGCTTATAAAATCGGAGATACGTAACGATTATGCTTTTACTCAGTAGACCATTACCTAACCGGCAAAATTTGAAATTGGCTTGA... | benign | 336,819 |
Evaluate this variant at chromosome X, position 80809736, gene BRWD3 (bromodomain and WD repeat domain containing 3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TATGAATTATATTTGCAGGAGAAACAACATAGACCAATGCCTTTGGTCCTTCACTAAAGTATATTCCATTTTTAAATATGTCCATTGTTGTCTCCTTGTAAACCCAAAATCGTGTTTCACCAATTCTCAAAAAGTGATAACTCAGTTTCTATTTAGTGAAAACGGGTCTATGCAAATGCGACTTAACTGATAATTGAATGAGCTTATAAAATCGGAGATACGTAACGATTATGCTTTTACTCAGTAGACCATTACCTAACCGGCAAAATTTGAAATTGGCTTGACGCTCCTTATTATTTTTAATTATGTCGTTTTTCCTA... | TATGAATTATATTTGCAGGAGAAACAACATAGACCAATGCCTTTGGTCCTTCACTAAAGTATATTCCATTTTTAAATATGTCCATTGTTGTCTCCTTGTAAACCCAAAATCGTGTTTCACCAATTCTCAAAAAGTGATAACTCAGTTTCTATTTAGTGAAAACGGGTCTATGCAAATGCGACTTAACTGATAATTGAATGAGCTTATAAAATCGGAGATACGTAACGATTATGCTTTTACTCAGTAGACCATTACCTAACCGGCAAAATTTGAAATTGGCTTGACGCTCCTTATTATTTTTAATTATGTCGTTTTTCCTA... | benign | 336,820 |
Clinical classification of chromosome X, position 83508926, gene POU3F4 (POU class 3 homeobox 4): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Rare_genetic_deafness', 'X-linked_mixed_hearing_loss_with_perilymphatic_gusher'] | AAGTGCAAATATAATTAGGCAGCTAGGTTACCTCCAAAATTATTCAACGAAAGGTCATTTTTTTAACTTCAAAGACCATGTTGGGTATCTGGTGTTGCCTTTTCTCAGCTAGAACAAATCAAATCTTTGCCTTTCTCCCCACTCTGCTTCCAAGCACTGCCTTTGCGCCGGGCTGTGGAGCACACGGACTTGTCCTTTCCTAACTTATAAAAGCTTAGAAGGAGCACAAGTGTTTCACCTCTTTTATTCTATCCAAAATGTAAAAGCAGTCCTATCTTTTCAAGCTGAAAGCAAATTCAAGCTTGATGGGGACTGGGGAA... | AAGTGCAAATATAATTAGGCAGCTAGGTTACCTCCAAAATTATTCAACGAAAGGTCATTTTTTTAACTTCAAAGACCATGTTGGGTATCTGGTGTTGCCTTTTCTCAGCTAGAACAAATCAAATCTTTGCCTTTCTCCCCACTCTGCTTCCAAGCACTGCCTTTGCGCCGGGCTGTGGAGCACACGGACTTGTCCTTTCCTAACTTATAAAAGCTTAGAAGGAGCACAAGTGTTTCACCTCTTTTATTCTATCCAAAATGTAAAAGCAGTCCTATCTTTTCAAGCTGAAAGCAAATTCAAGCTTGATGGGGACTGGGGAA... | pathogenic | 336,829 |
Clinical classification of chromosome X, position 83508931, gene POU3F4 (POU class 3 homeobox 4): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['X-linked_mixed_hearing_loss_with_perilymphatic_gusher'] | CAAATATAATTAGGCAGCTAGGTTACCTCCAAAATTATTCAACGAAAGGTCATTTTTTTAACTTCAAAGACCATGTTGGGTATCTGGTGTTGCCTTTTCTCAGCTAGAACAAATCAAATCTTTGCCTTTCTCCCCACTCTGCTTCCAAGCACTGCCTTTGCGCCGGGCTGTGGAGCACACGGACTTGTCCTTTCCTAACTTATAAAAGCTTAGAAGGAGCACAAGTGTTTCACCTCTTTTATTCTATCCAAAATGTAAAAGCAGTCCTATCTTTTCAAGCTGAAAGCAAATTCAAGCTTGATGGGGACTGGGGAAGTGGG... | CAAATATAATTAGGCAGCTAGGTTACCTCCAAAATTATTCAACGAAAGGTCATTTTTTTAACTTCAAAGACCATGTTGGGTATCTGGTGTTGCCTTTTCTCAGCTAGAACAAATCAAATCTTTGCCTTTCTCCCCACTCTGCTTCCAAGCACTGCCTTTGCGCCGGGCTGTGGAGCACACGGACTTGTCCTTTCCTAACTTATAAAAGCTTAGAAGGAGCACAAGTGTTTCACCTCTTTTATTCTATCCAAAATGTAAAAGCAGTCCTATCTTTTCAAGCTGAAAGCAAATTCAAGCTTGATGGGGACTGGGGAAGTGGG... | pathogenic | 336,830 |
Chromosome X, position 85255275, gene ZNF711 (zinc finger protein 711): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Intellectual_disability,_X-linked_97'] | CAAACCAAATATTAGTCTAAGATGAGTACAGAGTTTTTCCCCCTAAATCAGGTGTTGAAAGATGCCTTCCAATTTTGGATACAGTAATTATTATAAGTTAAAGAAGTTCAGACACTTTCATGTTCATGATGTATATTTTATAATAGAATATTTTATTAACTCACTTAACATATTAGTATCCTTTTACGTTTTTGTGCCTTTTTATTTTAATTTTTTGAAACAATTATAGACTCACAAGCAATAGAGCAAAGGAGTACATACAGTCCATGTACCCTTTACTTACCTTCCTGTGATGGTGGCATCTTACATAACTGTAGTAT... | CAAACCAAATATTAGTCTAAGATGAGTACAGAGTTTTTCCCCCTAAATCAGGTGTTGAAAGATGCCTTCCAATTTTGGATACAGTAATTATTATAAGTTAAAGAAGTTCAGACACTTTCATGTTCATGATGTATATTTTATAATAGAATATTTTATTAACTCACTTAACATATTAGTATCCTTTTACGTTTTTGTGCCTTTTTATTTTAATTTTTTGAAACAATTATAGACTCACAAGCAATAGAGCAAAGGAGTACATACAGTCCATGTACCCTTTACTTACCTTCCTGTGATGGTGGCATCTTACATAACTGTAGTAT... | pathogenic | 336,844 |
Classify the chromosome X variant at position 85268304 affecting gene ZNF711 (zinc finger protein 711) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Intellectual_disability,_X-linked_97'] | GAAAATATCAAAACAAATGAGTGGAGAAGATTCTGATGGATAGGAAAAGAGTTTAATCAAATAATTTCTATTTGATCTCTAAATTCTTTATTTTTTTATTTATTGGTAAGGAAAGGGGCACAGTAGGAAATGGAAGATTGAGGTTTAAGTTAACTTATGCCAGAATTCTATGGGAATGTGGGAAACTTAGACCAGTGTCTCTTTTTGGTTAATAGAGAGAAGACAAACTTGGGAGAAGAGGGATACTTTTTTCCCATGTTTTTCCCCACATTTCTTCTGTAGTCATCCAGGATCCCAGTATGTGAATCAAAGGAAAAGCA... | GAAAATATCAAAACAAATGAGTGGAGAAGATTCTGATGGATAGGAAAAGAGTTTAATCAAATAATTTCTATTTGATCTCTAAATTCTTTATTTTTTTATTTATTGGTAAGGAAAGGGGCACAGTAGGAAATGGAAGATTGAGGTTTAAGTTAACTTATGCCAGAATTCTATGGGAATGTGGGAAACTTAGACCAGTGTCTCTTTTTGGTTAATAGAGAGAAGACAAACTTGGGAGAAGAGGGATACTTTTTTCCCATGTTTTTCCCCACATTTCTTCTGTAGTCATCCAGGATCCCAGTATGTGAATCAAAGGAAAAGCA... | pathogenic | 336,850 |
Is chromosome X, position 85873141, gene CHM (CHM Rab escort protein) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Choroideremia'] | TTGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAAGCGCCTCCCAGGTACCTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGGGGAGCTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAAGAAGAAATCTGCATGGGCTTGTGTTGTCAACACAAGCAAAGTCTAGGTGATATTCTGAGAGCTTTTATGGATAATCTTCATTTGGAAAAT... | TTGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAAGCGCCTCCCAGGTACCTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGGGGAGCTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAAGAAGAAATCTGCATGGGCTTGTGTTGTCAACACAAGCAAAGTCTAGGTGATATTCTGAGAGCTTTTATGGATAATCTTCATTTGGAAAAT... | pathogenic | 336,887 |
Variant in CHM (CHM Rab escort protein), chromosome X, position 85873166—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Choroideremia', 'Retinal_dystrophy'] | CTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAAGCGCCTCCCAGGTACCTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGGGGAGCTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAAGAAGAAATCTGCATGGGCTTGTGTTGTCAACACAAGCAAAGTCTAGGTGATATTCTGAGAGCTTTTATGGATAATCTTCATTTGGAAAATACCAATCACCAGAAATCACCAATTA... | CTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAAGCGCCTCCCAGGTACCTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGGGGAGCTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAAGAAGAAATCTGCATGGGCTTGTGTTGTCAACACAAGCAAAGTCTAGGTGATATTCTGAGAGCTTTTATGGATAATCTTCATTTGGAAAATACCAATCACCAGAAATCACCAATTA... | pathogenic | 336,888 |
Does the variant on chromosome X at location 85878986 affecting gene CHM (CHM Rab escort protein) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Choroideremia', 'Retinal_dystrophy'] | ATTTAGTGCATTGAGACTACTACACAATGAAATTACAATATAAGAATTATTTAAAATTTCAGAAATAATTAAGAAACTCAGGGTTTCTACACAAAGTATAGTTGTAGTTAAAGCCAAAAGAAAAAACTATGACTCCATATTAGATTTAGGAATATTATCATGTATTTTACCTTAGCAATCAAATTTTTAATAATCTAAACATTTATATGATACTTTCCAATAAAGAAAATATGTAACTTACAAATTAATAAATTAAAACTAAAATAATTTAATTTGTAAATTAACCCCCAAATTAAAGTGAAGTTTTCAAATACTTCATT... | ATTTAGTGCATTGAGACTACTACACAATGAAATTACAATATAAGAATTATTTAAAATTTCAGAAATAATTAAGAAACTCAGGGTTTCTACACAAAGTATAGTTGTAGTTAAAGCCAAAAGAAAAAACTATGACTCCATATTAGATTTAGGAATATTATCATGTATTTTACCTTAGCAATCAAATTTTTAATAATCTAAACATTTATATGATACTTTCCAATAAAGAAAATATGTAACTTACAAATTAATAAATTAAAACTAAAATAATTTAATTTGTAAATTAACCCCCAAATTAAAGTGAAGTTTTCAAATACTTCATT... | pathogenic | 336,893 |
Assess the variant on chromosome X, position 85879068, impacting CHM (CHM Rab escort protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GTTTCTACACAAAGTATAGTTGTAGTTAAAGCCAAAAGAAAAAACTATGACTCCATATTAGATTTAGGAATATTATCATGTATTTTACCTTAGCAATCAAATTTTTAATAATCTAAACATTTATATGATACTTTCCAATAAAGAAAATATGTAACTTACAAATTAATAAATTAAAACTAAAATAATTTAATTTGTAAATTAACCCCCAAATTAAAGTGAAGTTTTCAAATACTTCATTTGGGTAGCTCCCAAAAAACATAATTGATATTAGCCTCTGAGAACATAACAGGTTCATTATGTTAAGTGAAATAAGCTAGGCA... | GTTTCTACACAAAGTATAGTTGTAGTTAAAGCCAAAAGAAAAAACTATGACTCCATATTAGATTTAGGAATATTATCATGTATTTTACCTTAGCAATCAAATTTTTAATAATCTAAACATTTATATGATACTTTCCAATAAAGAAAATATGTAACTTACAAATTAATAAATTAAAACTAAAATAATTTAATTTGTAAATTAACCCCCAAATTAAAGTGAAGTTTTCAAATACTTCATTTGGGTAGCTCCCAAAAAACATAATTGATATTAGCCTCTGAGAACATAACAGGTTCATTATGTTAAGTGAAATAAGCTAGGCA... | benign | 336,894 |
Gene mutation in CHM (CHM Rab escort protein) at chromosome X, position 85894260—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic | TGAAATAAGACTTTGGGGGACTGTTGGGAAGGCATGATTGCTTTTGAAATGTGAGGACATGAGATTTGGAGGGGCCAGGGGCAGAATGATATGGTTTGGCTGTGTCCCCACTGAAATCTCAACTTGAATTGTATCTCCCAGAATTCCCATGTGTTGTGGGAGGGACCCAGGGGGAGGTAACTGAATCATGGGGGCCGGTCTTTCTTGTGCTATTCTCATGATAGTGTGTAAGTCTTACAAGATCTGATGGGTTTATCAGGGGTTTCCGCTTTTGCTTCTTCCTCATTTTTTTCTTGCCACCGCCATGTTAAGAAGTGCCT... | TGAAATAAGACTTTGGGGGACTGTTGGGAAGGCATGATTGCTTTTGAAATGTGAGGACATGAGATTTGGAGGGGCCAGGGGCAGAATGATATGGTTTGGCTGTGTCCCCACTGAAATCTCAACTTGAATTGTATCTCCCAGAATTCCCATGTGTTGTGGGAGGGACCCAGGGGGAGGTAACTGAATCATGGGGGCCGGTCTTTCTTGTGCTATTCTCATGATAGTGTGTAAGTCTTACAAGATCTGATGGGTTTATCAGGGGTTTCCGCTTTTGCTTCTTCCTCATTTTTTTCTTGCCACCGCCATGTTAAGAAGTGCCT... | pathogenic | 336,897 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 85900656, gene CHM (CHM Rab escort protein). What disease(s) is it linked to if pathogenic? | pathogenic; ['Choroideremia'] | TGCTCTCTTCACTCTTCTGCCTCCCTGGCACTCTTTGATCCACTCACAAACCTCATAGCTTACTGGGAGATACAGACAATAAACCAGTAATTGTAGGACAGTGGAGTAAGTAATATAATAGCTGCTGTACTATTTCTTCTACCCGCCCATGCTCATACTTGTCACTCTGAACTACAGTTGCTACTTATCAGTATCTGTATTCTCCAGACCGTAAGCTATTTGAGAGCAGAGATGCTATCATAGTGACCACTATCTCCTTAGAACCCAGCAACACTGGCTGGAAGGTAAAAGGCACTCATTGTTTGCTGAATGGCTTAATG... | TGCTCTCTTCACTCTTCTGCCTCCCTGGCACTCTTTGATCCACTCACAAACCTCATAGCTTACTGGGAGATACAGACAATAAACCAGTAATTGTAGGACAGTGGAGTAAGTAATATAATAGCTGCTGTACTATTTCTTCTACCCGCCCATGCTCATACTTGTCACTCTGAACTACAGTTGCTACTTATCAGTATCTGTATTCTCCAGACCGTAAGCTATTTGAGAGCAGAGATGCTATCATAGTGACCACTATCTCCTTAGAACCCAGCAACACTGGCTGGAAGGTAAAAGGCACTCATTGTTTGCTGAATGGCTTAATG... | pathogenic | 336,900 |
Assess the variant on chromosome X, position 85900695, impacting CHM (CHM Rab escort protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['CHM-related_disorder', 'Retinal_dystrophy'] | CCACTCACAAACCTCATAGCTTACTGGGAGATACAGACAATAAACCAGTAATTGTAGGACAGTGGAGTAAGTAATATAATAGCTGCTGTACTATTTCTTCTACCCGCCCATGCTCATACTTGTCACTCTGAACTACAGTTGCTACTTATCAGTATCTGTATTCTCCAGACCGTAAGCTATTTGAGAGCAGAGATGCTATCATAGTGACCACTATCTCCTTAGAACCCAGCAACACTGGCTGGAAGGTAAAAGGCACTCATTGTTTGCTGAATGGCTTAATGAAAGTATTTATGCTTACACATATAACAAGTATATTTGGG... | CCACTCACAAACCTCATAGCTTACTGGGAGATACAGACAATAAACCAGTAATTGTAGGACAGTGGAGTAAGTAATATAATAGCTGCTGTACTATTTCTTCTACCCGCCCATGCTCATACTTGTCACTCTGAACTACAGTTGCTACTTATCAGTATCTGTATTCTCCAGACCGTAAGCTATTTGAGAGCAGAGATGCTATCATAGTGACCACTATCTCCTTAGAACCCAGCAACACTGGCTGGAAGGTAAAAGGCACTCATTGTTTGCTGAATGGCTTAATGAAAGTATTTATGCTTACACATATAACAAGTATATTTGGG... | pathogenic | 336,902 |
Variant at chromosome position 85900700, chromosome X, gene CHM (CHM Rab escort protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Retinal_dystrophy'] | CACAAACCTCATAGCTTACTGGGAGATACAGACAATAAACCAGTAATTGTAGGACAGTGGAGTAAGTAATATAATAGCTGCTGTACTATTTCTTCTACCCGCCCATGCTCATACTTGTCACTCTGAACTACAGTTGCTACTTATCAGTATCTGTATTCTCCAGACCGTAAGCTATTTGAGAGCAGAGATGCTATCATAGTGACCACTATCTCCTTAGAACCCAGCAACACTGGCTGGAAGGTAAAAGGCACTCATTGTTTGCTGAATGGCTTAATGAAAGTATTTATGCTTACACATATAACAAGTATATTTGGGGGACT... | CACAAACCTCATAGCTTACTGGGAGATACAGACAATAAACCAGTAATTGTAGGACAGTGGAGTAAGTAATATAATAGCTGCTGTACTATTTCTTCTACCCGCCCATGCTCATACTTGTCACTCTGAACTACAGTTGCTACTTATCAGTATCTGTATTCTCCAGACCGTAAGCTATTTGAGAGCAGAGATGCTATCATAGTGACCACTATCTCCTTAGAACCCAGCAACACTGGCTGGAAGGTAAAAGGCACTCATTGTTTGCTGAATGGCTTAATGAAAGTATTTATGCTTACACATATAACAAGTATATTTGGGGGACT... | pathogenic | 336,903 |
Determine if the mutation at chromosome X, position 85956223 in gene CHM (CHM Rab escort protein) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinal_dystrophy'] | GTTCAACATCACTGATCATCAGAGAAATGCACATCAAAATTACAATGAGATATTTTATTACCCCAGTTAAAATAACTTTTATTCAAAAGAAAGACACTAGCAAATGCTGGCAAAGATACGGAGAAAAGGGAACCCTTGAACACTGTGGGTGGGAGTGTTAATTAGTACAACCACTGTGGAGAACAGTTTGGAAGTTCCTCAGAAAAGTAAAAATAGAGCTACCATACGATCTAGCAATCCCACTGCTAGGTATATACCCAAAAGAAAGGAAATCAGTGTATCAAAGGGATATCTACATACCACATTTGTCGCAGCACTGT... | GTTCAACATCACTGATCATCAGAGAAATGCACATCAAAATTACAATGAGATATTTTATTACCCCAGTTAAAATAACTTTTATTCAAAAGAAAGACACTAGCAAATGCTGGCAAAGATACGGAGAAAAGGGAACCCTTGAACACTGTGGGTGGGAGTGTTAATTAGTACAACCACTGTGGAGAACAGTTTGGAAGTTCCTCAGAAAAGTAAAAATAGAGCTACCATACGATCTAGCAATCCCACTGCTAGGTATATACCCAAAAGAAAGGAAATCAGTGTATCAAAGGGATATCTACATACCACATTTGTCGCAGCACTGT... | pathogenic | 336,916 |
Evaluate if the mutation on chromosome X at position 85956262 in CHM (CHM Rab escort protein) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Choroideremia'] | TTACAATGAGATATTTTATTACCCCAGTTAAAATAACTTTTATTCAAAAGAAAGACACTAGCAAATGCTGGCAAAGATACGGAGAAAAGGGAACCCTTGAACACTGTGGGTGGGAGTGTTAATTAGTACAACCACTGTGGAGAACAGTTTGGAAGTTCCTCAGAAAAGTAAAAATAGAGCTACCATACGATCTAGCAATCCCACTGCTAGGTATATACCCAAAAGAAAGGAAATCAGTGTATCAAAGGGATATCTACATACCACATTTGTCGCAGCACTGTTCACAATAACCAAGATTTGGAAGCAACCTAAGTGCCCAG... | TTACAATGAGATATTTTATTACCCCAGTTAAAATAACTTTTATTCAAAAGAAAGACACTAGCAAATGCTGGCAAAGATACGGAGAAAAGGGAACCCTTGAACACTGTGGGTGGGAGTGTTAATTAGTACAACCACTGTGGAGAACAGTTTGGAAGTTCCTCAGAAAAGTAAAAATAGAGCTACCATACGATCTAGCAATCCCACTGCTAGGTATATACCCAAAAGAAAGGAAATCAGTGTATCAAAGGGATATCTACATACCACATTTGTCGCAGCACTGTTCACAATAACCAAGATTTGGAAGCAACCTAAGTGCCCAG... | pathogenic | 336,918 |
Does the variant impacting CHM (CHM Rab escort protein) on chromosome X, position 85956357, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Choroideremia'] | CTTGAACACTGTGGGTGGGAGTGTTAATTAGTACAACCACTGTGGAGAACAGTTTGGAAGTTCCTCAGAAAAGTAAAAATAGAGCTACCATACGATCTAGCAATCCCACTGCTAGGTATATACCCAAAAGAAAGGAAATCAGTGTATCAAAGGGATATCTACATACCACATTTGTCGCAGCACTGTTCACAATAACCAAGATTTGGAAGCAACCTAAGTGCCCAGCAACAGATAAATGGATAAAGAAAATGTAGTACAGTTACACCTTGGAGTAATACTCAGCCATAAAAAGAACGAGATCCTGGCTGGGCATGGTGGCT... | CTTGAACACTGTGGGTGGGAGTGTTAATTAGTACAACCACTGTGGAGAACAGTTTGGAAGTTCCTCAGAAAAGTAAAAATAGAGCTACCATACGATCTAGCAATCCCACTGCTAGGTATATACCCAAAAGAAAGGAAATCAGTGTATCAAAGGGATATCTACATACCACATTTGTCGCAGCACTGTTCACAATAACCAAGATTTGGAAGCAACCTAAGTGCCCAGCAACAGATAAATGGATAAAGAAAATGTAGTACAGTTACACCTTGGAGTAATACTCAGCCATAAAAAGAACGAGATCCTGGCTGGGCATGGTGGCT... | pathogenic | 336,922 |
Classify the chromosome X variant at position 85957948 affecting gene CHM (CHM Rab escort protein) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Choroideremia', 'Retinal_dystrophy'] | CAATACTTTCCATCATGCTATTGAGTGGAAAAAGGAATTTATAGTATTTTTATCAAGCTCAAAAAGAGGCCACACTGAATATATCACTTAGGTGGGTAGATAGGTAGGTAAATAGATTATAAAAAATAAATAGAATAAAGTATATATTTGCATATACTAAATCTTGAATAAATCTCATTTTTGCCTGCCTAATTTTCATCTGTTATTCAAGTATCACTTTTAGAAGGGACAAGAAAATCAATGGCAAACTTACCTGCAGAAACACTGGGGGAGTTCTCCTTGGCCATATAAAGGAAACAAAAATGGAGTGTTGCCATACC... | CAATACTTTCCATCATGCTATTGAGTGGAAAAAGGAATTTATAGTATTTTTATCAAGCTCAAAAAGAGGCCACACTGAATATATCACTTAGGTGGGTAGATAGGTAGGTAAATAGATTATAAAAAATAAATAGAATAAAGTATATATTTGCATATACTAAATCTTGAATAAATCTCATTTTTGCCTGCCTAATTTTCATCTGTTATTCAAGTATCACTTTTAGAAGGGACAAGAAAATCAATGGCAAACTTACCTGCAGAAACACTGGGGGAGTTCTCCTTGGCCATATAAAGGAAACAAAAATGGAGTGTTGCCATACC... | pathogenic | 336,931 |
Evaluate this variant at chromosome X, position 85958911, gene CHM (CHM Rab escort protein): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic | AATCAGTCTTATGGCCACATAATCACATCAAAACATACGGGACCCCCAGAAGTTACTCCTTTAAACCAAGAACAGAATATAATGTAATTGGACTGTTAGTGGTGGGAAATAAATCCCATGATAAAAGACAAAAACTTTACAGAAATAATTTACATAAATAAAAATTATGAAAATTTACTGAGAGAATTGAATTTTACACAGCCACTGTGGATAACAACATGACAGTACCTAGTAGACTTGAAGCTTTAAGAGCAAGGATTAGACTTTCATTATTTCACAGAGGAAAAAAAATATCGCTGCACTTCTCATTGTAACTTTAT... | AATCAGTCTTATGGCCACATAATCACATCAAAACATACGGGACCCCCAGAAGTTACTCCTTTAAACCAAGAACAGAATATAATGTAATTGGACTGTTAGTGGTGGGAAATAAATCCCATGATAAAAGACAAAAACTTTACAGAAATAATTTACATAAATAAAAATTATGAAAATTTACTGAGAGAATTGAATTTTACACAGCCACTGTGGATAACAACATGACAGTACCTAGTAGACTTGAAGCTTTAAGAGCAAGGATTAGACTTTCATTATTTCACAGAGGAAAAAAAATATCGCTGCACTTCTCATTGTAACTTTAT... | pathogenic | 336,939 |
Is the chromosome X, position 85963711 variant in CHM (CHM Rab escort protein) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Choroideremia'] | ATGTGATTAAGATACTTCTGGTTTTGAAAATGAGTACATTAAATGTTTATTAGTTATTTTGTAGAACGTATGAACCCATGAAACTCTGCAGGACGCAGTCCCAACTGCCTAGTCCACTGCCTCTAGACATGTTTGGTTTTTACTTACCATAAGAGAACTGGTTATTACTAACCATTCAAACCGATGAAAATACCCAGAAGTCTCCTTCAGGGTATCTTCAAATGTGTCAACTTCTAATTCAATTGTCTTTTTCCTCCCACAACCAGCATTCATTTTCTTATACAACTGAATAATTTTCTACACCAATTCCTACAATTGAA... | ATGTGATTAAGATACTTCTGGTTTTGAAAATGAGTACATTAAATGTTTATTAGTTATTTTGTAGAACGTATGAACCCATGAAACTCTGCAGGACGCAGTCCCAACTGCCTAGTCCACTGCCTCTAGACATGTTTGGTTTTTACTTACCATAAGAGAACTGGTTATTACTAACCATTCAAACCGATGAAAATACCCAGAAGTCTCCTTCAGGGTATCTTCAAATGTGTCAACTTCTAATTCAATTGTCTTTTTCCTCCCACAACCAGCATTCATTTTCTTATACAACTGAATAATTTTCTACACCAATTCCTACAATTGAA... | pathogenic | 336,942 |
Evaluate the clinical significance of the mutation at chromosome X, position 85963714 in gene CHM (CHM Rab escort protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic | TGATTAAGATACTTCTGGTTTTGAAAATGAGTACATTAAATGTTTATTAGTTATTTTGTAGAACGTATGAACCCATGAAACTCTGCAGGACGCAGTCCCAACTGCCTAGTCCACTGCCTCTAGACATGTTTGGTTTTTACTTACCATAAGAGAACTGGTTATTACTAACCATTCAAACCGATGAAAATACCCAGAAGTCTCCTTCAGGGTATCTTCAAATGTGTCAACTTCTAATTCAATTGTCTTTTTCCTCCCACAACCAGCATTCATTTTCTTATACAACTGAATAATTTTCTACACCAATTCCTACAATTGAAACA... | TGATTAAGATACTTCTGGTTTTGAAAATGAGTACATTAAATGTTTATTAGTTATTTTGTAGAACGTATGAACCCATGAAACTCTGCAGGACGCAGTCCCAACTGCCTAGTCCACTGCCTCTAGACATGTTTGGTTTTTACTTACCATAAGAGAACTGGTTATTACTAACCATTCAAACCGATGAAAATACCCAGAAGTCTCCTTCAGGGTATCTTCAAATGTGTCAACTTCTAATTCAATTGTCTTTTTCCTCCCACAACCAGCATTCATTTTCTTATACAACTGAATAATTTTCTACACCAATTCCTACAATTGAAACA... | pathogenic | 336,944 |
Chromosome X, position 85963801, gene CHM (CHM Rab escort protein): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Choroideremia'] | GGACGCAGTCCCAACTGCCTAGTCCACTGCCTCTAGACATGTTTGGTTTTTACTTACCATAAGAGAACTGGTTATTACTAACCATTCAAACCGATGAAAATACCCAGAAGTCTCCTTCAGGGTATCTTCAAATGTGTCAACTTCTAATTCAATTGTCTTTTTCCTCCCACAACCAGCATTCATTTTCTTATACAACTGAATAATTTTCTACACCAATTCCTACAATTGAAACAGCACCGTCTTCTACCATTTCCCTTTGCAAGATATATACTAAATTTCAGCTAACATAAAAGTTACAGACTTTTATGAAATAGCCTTGA... | GGACGCAGTCCCAACTGCCTAGTCCACTGCCTCTAGACATGTTTGGTTTTTACTTACCATAAGAGAACTGGTTATTACTAACCATTCAAACCGATGAAAATACCCAGAAGTCTCCTTCAGGGTATCTTCAAATGTGTCAACTTCTAATTCAATTGTCTTTTTCCTCCCACAACCAGCATTCATTTTCTTATACAACTGAATAATTTTCTACACCAATTCCTACAATTGAAACAGCACCGTCTTCTACCATTTCCCTTTGCAAGATATATACTAAATTTCAGCTAACATAAAAGTTACAGACTTTTATGAAATAGCCTTGA... | pathogenic | 336,946 |
Classify the chromosome X variant at position 85963840 affecting gene CHM (CHM Rab escort protein) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Choroideremia', 'Retinal_dystrophy'] | TGTTTGGTTTTTACTTACCATAAGAGAACTGGTTATTACTAACCATTCAAACCGATGAAAATACCCAGAAGTCTCCTTCAGGGTATCTTCAAATGTGTCAACTTCTAATTCAATTGTCTTTTTCCTCCCACAACCAGCATTCATTTTCTTATACAACTGAATAATTTTCTACACCAATTCCTACAATTGAAACAGCACCGTCTTCTACCATTTCCCTTTGCAAGATATATACTAAATTTCAGCTAACATAAAAGTTACAGACTTTTATGAAATAGCCTTGATTCTTAACCACATTTATATCATCATTTATTTAGGTAAAA... | TGTTTGGTTTTTACTTACCATAAGAGAACTGGTTATTACTAACCATTCAAACCGATGAAAATACCCAGAAGTCTCCTTCAGGGTATCTTCAAATGTGTCAACTTCTAATTCAATTGTCTTTTTCCTCCCACAACCAGCATTCATTTTCTTATACAACTGAATAATTTTCTACACCAATTCCTACAATTGAAACAGCACCGTCTTCTACCATTTCCCTTTGCAAGATATATACTAAATTTCAGCTAACATAAAAGTTACAGACTTTTATGAAATAGCCTTGATTCTTAACCACATTTATATCATCATTTATTTAGGTAAAA... | pathogenic | 336,947 |
A genetic variant on chromosome X, position 85964048, affects the gene CHM. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Retinal_dystrophy'] | CATTTCCCTTTGCAAGATATATACTAAATTTCAGCTAACATAAAAGTTACAGACTTTTATGAAATAGCCTTGATTCTTAACCACATTTATATCATCATTTATTTAGGTAAAACATTCCAAATTCCAAGTAATTACTTCAAAATGGAATTGTCACACAAAGCCCATTTGTTATTTGACTTGTTCAGTTTTTATGTTTTGTTTAACCTATTTCATAGAGTACTGCTCATGGGACCAGGAAGGTTATTAGTGAGCTAGGATTAAACTTCCATCCACAGATGAACAGCCAAGGTAATGTGGAAAAAATGCTAGATTTCAAATCA... | CATTTCCCTTTGCAAGATATATACTAAATTTCAGCTAACATAAAAGTTACAGACTTTTATGAAATAGCCTTGATTCTTAACCACATTTATATCATCATTTATTTAGGTAAAACATTCCAAATTCCAAGTAATTACTTCAAAATGGAATTGTCACACAAAGCCCATTTGTTATTTGACTTGTTCAGTTTTTATGTTTTGTTTAACCTATTTCATAGAGTACTGCTCATGGGACCAGGAAGGTTATTAGTGAGCTAGGATTAAACTTCCATCCACAGATGAACAGCCAAGGTAATGTGGAAAAAATGCTAGATTTCAAATCA... | pathogenic | 336,950 |
Variant at chromosome X, position 86047502, gene CHM (CHM Rab escort protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Choroideremia'] | AACCTAGAATGTGTCACCAATAAACAATATGAAAAATTTAAGTTTTAAGATTAACTTCAAATAAGTTCTTCCCAAACACTGAAAAATAACATTGCACTCACTGGGATAAGTATAAAATGAGTATTTTTCCAAATATAAGCGATGTCACCTGATGCAATTCTCTGGCTCACTCACTGTAACTTCCTACCTCTACCATAACAGACTCCATCAGGATGGATGTCTTCCAATTCTGAACTGTACAGAAGGCAAAATATTTATGAAAAACATTAGCATCATTCATAAGAATTAACATTCATCAATTAAAATTTGAACCCAGACCT... | AACCTAGAATGTGTCACCAATAAACAATATGAAAAATTTAAGTTTTAAGATTAACTTCAAATAAGTTCTTCCCAAACACTGAAAAATAACATTGCACTCACTGGGATAAGTATAAAATGAGTATTTTTCCAAATATAAGCGATGTCACCTGATGCAATTCTCTGGCTCACTCACTGTAACTTCCTACCTCTACCATAACAGACTCCATCAGGATGGATGTCTTCCAATTCTGAACTGTACAGAAGGCAAAATATTTATGAAAAACATTAGCATCATTCATAAGAATTAACATTCATCAATTAAAATTTGAACCCAGACCT... | pathogenic | 336,971 |
Gene PCDH19 (protocadherin 19) variant at chromosome position 100296536 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_9'] | TAGTAATGCGTAAAGCTAGGAACTCAGGCAAAAATAAGTAAAACATTCAAAAGAGCTGACTTATCTACCTAAACTTAAGAAAATAAATCCTCTTTTGCATTCTAGTGCTCTAACCTCTAGGCCTTCTCTCTGTGTATTCCTGAATTTCAAAAAATGAAACAAATGAAAACAGAACCATAAAACTTGTTTCTCTAGAAACAACTCTCTTAAGACCAAGGCAGAACAAAGGTGACATATTTCTTTAGTTTATTTTTAAATAATGAACTCTTAGGCTGCAAAAATACTATGTTGGCTAGTGAATATTAATAGACAAAAGATAA... | TAGTAATGCGTAAAGCTAGGAACTCAGGCAAAAATAAGTAAAACATTCAAAAGAGCTGACTTATCTACCTAAACTTAAGAAAATAAATCCTCTTTTGCATTCTAGTGCTCTAACCTCTAGGCCTTCTCTCTGTGTATTCCTGAATTTCAAAAAATGAAACAAATGAAAACAGAACCATAAAACTTGTTTCTCTAGAAACAACTCTCTTAAGACCAAGGCAGAACAAAGGTGACATATTTCTTTAGTTTATTTTTAAATAATGAACTCTTAGGCTGCAAAAATACTATGTTGGCTAGTGAATATTAATAGACAAAAGATAA... | pathogenic | 337,002 |
Does the variant impacting PCDH19 (protocadherin 19) on chromosome X, position 100350696, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_9'] | AGTCTAGGTTGTGCCTTTTGTGTGTATGTGTCTATAAACAAAAAACATATAAAGTAATTAACCAAAATCAGAGGTTCCCAGTAAGTCTCAACGCTGCTGTGGAAATACATGTATCCCCAAAGATAAATGTTCAAACATAAGTTTTTATCTATCAGTCTACCTTGTAAATTGGATAGTCAGGACTGATGTAAGATGCAAGGGTCCCTGGGAGTCTTAGCTTTCTTCCAGGCTGTGACAATCAGACTCATACTATCAGGTTTTTTTATTTTATTTATTTATTTTTCTTTTTGGTAGAGATGGTGGGGGGTGGGGGGGAGGGG... | AGTCTAGGTTGTGCCTTTTGTGTGTATGTGTCTATAAACAAAAAACATATAAAGTAATTAACCAAAATCAGAGGTTCCCAGTAAGTCTCAACGCTGCTGTGGAAATACATGTATCCCCAAAGATAAATGTTCAAACATAAGTTTTTATCTATCAGTCTACCTTGTAAATTGGATAGTCAGGACTGATGTAAGATGCAAGGGTCCCTGGGAGTCTTAGCTTTCTTCCAGGCTGTGACAATCAGACTCATACTATCAGGTTTTTTTATTTTATTTATTTATTTTTCTTTTTGGTAGAGATGGTGGGGGGTGGGGGGGAGGGG... | pathogenic | 337,021 |
Mutation at chromosome X, position 100402580, within PCDH19: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_9'] | AGCTATTGGTGATCCACAAGTAGTCTTGTAAGTAGTCTACGGCCTAGGCCTTAGTAGTATTCACTGACATTAATAATTATAACTGAGTTTACCTAGCACAATACTGGACTTTCAAAAAATCCTTATTTATAGAGTTATAAATTGAAAATATTGGTGCTTTTGTTGCTGGCAGAATACCATCAGTTACTCATCAAAAGCACTGCTGTTTGGCCCCATTAATTCTGATGGGAATTATTGTTCAGGAACTAGAAGAAGCAATCAATGTAAGTGGTCCTAAGACCCCTTATCCTACAAAATTGACACAAATACTATGAGGCCAT... | AGCTATTGGTGATCCACAAGTAGTCTTGTAAGTAGTCTACGGCCTAGGCCTTAGTAGTATTCACTGACATTAATAATTATAACTGAGTTTACCTAGCACAATACTGGACTTTCAAAAAATCCTTATTTATAGAGTTATAAATTGAAAATATTGGTGCTTTTGTTGCTGGCAGAATACCATCAGTTACTCATCAAAAGCACTGCTGTTTGGCCCCATTAATTCTGATGGGAATTATTGTTCAGGAACTAGAAGAAGCAATCAATGTAAGTGGTCCTAAGACCCCTTATCCTACAAAATTGACACAAATACTATGAGGCCAT... | pathogenic | 337,024 |
The mutation in gene PCDH19 at chromosome X, position 100402740—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_9'] | TGTTGCTGGCAGAATACCATCAGTTACTCATCAAAAGCACTGCTGTTTGGCCCCATTAATTCTGATGGGAATTATTGTTCAGGAACTAGAAGAAGCAATCAATGTAAGTGGTCCTAAGACCCCTTATCCTACAAAATTGACACAAATACTATGAGGCCATTTTATGTATGCATCATAGCCTGGGTATGTCAGGCTGAATTACTTTTAAGGCAGGAAGGTGTCACTGAAATCACATTTGCCAGGCAGTATAGAGTCCTTCAGTCTCGTCCTCCCTCTCTTGATGACCAGCTTTGTGAGTCTGAGTAAGTCCCTTAGCATCT... | TGTTGCTGGCAGAATACCATCAGTTACTCATCAAAAGCACTGCTGTTTGGCCCCATTAATTCTGATGGGAATTATTGTTCAGGAACTAGAAGAAGCAATCAATGTAAGTGGTCCTAAGACCCCTTATCCTACAAAATTGACACAAATACTATGAGGCCATTTTATGTATGCATCATAGCCTGGGTATGTCAGGCTGAATTACTTTTAAGGCAGGAAGGTGTCACTGAAATCACATTTGCCAGGCAGTATAGAGTCCTTCAGTCTCGTCCTCCCTCTCTTGATGACCAGCTTTGTGAGTCTGAGTAAGTCCCTTAGCATCT... | pathogenic | 337,029 |
Clinical classification of chromosome X, position 100402798, gene PCDH19: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_9', 'Inborn_genetic_diseases'] | ATTCTGATGGGAATTATTGTTCAGGAACTAGAAGAAGCAATCAATGTAAGTGGTCCTAAGACCCCTTATCCTACAAAATTGACACAAATACTATGAGGCCATTTTATGTATGCATCATAGCCTGGGTATGTCAGGCTGAATTACTTTTAAGGCAGGAAGGTGTCACTGAAATCACATTTGCCAGGCAGTATAGAGTCCTTCAGTCTCGTCCTCCCTCTCTTGATGACCAGCTTTGTGAGTCTGAGTAAGTCCCTTAGCATCTCTGGACCTCTGTTTCATCATCTACTGAAGGGCAACCTATCAAGATACCTGATTGTGAG... | ATTCTGATGGGAATTATTGTTCAGGAACTAGAAGAAGCAATCAATGTAAGTGGTCCTAAGACCCCTTATCCTACAAAATTGACACAAATACTATGAGGCCATTTTATGTATGCATCATAGCCTGGGTATGTCAGGCTGAATTACTTTTAAGGCAGGAAGGTGTCACTGAAATCACATTTGCCAGGCAGTATAGAGTCCTTCAGTCTCGTCCTCCCTCTCTTGATGACCAGCTTTGTGAGTCTGAGTAAGTCCCTTAGCATCTCTGGACCTCTGTTTCATCATCTACTGAAGGGCAACCTATCAAGATACCTGATTGTGAG... | pathogenic | 337,031 |
Variant chromosome X, position 100402798, gene PCDH19: benign or pathogenic? Disease(s)? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_9'] | ATTCTGATGGGAATTATTGTTCAGGAACTAGAAGAAGCAATCAATGTAAGTGGTCCTAAGACCCCTTATCCTACAAAATTGACACAAATACTATGAGGCCATTTTATGTATGCATCATAGCCTGGGTATGTCAGGCTGAATTACTTTTAAGGCAGGAAGGTGTCACTGAAATCACATTTGCCAGGCAGTATAGAGTCCTTCAGTCTCGTCCTCCCTCTCTTGATGACCAGCTTTGTGAGTCTGAGTAAGTCCCTTAGCATCTCTGGACCTCTGTTTCATCATCTACTGAAGGGCAACCTATCAAGATACCTGATTGTGAG... | ATTCTGATGGGAATTATTGTTCAGGAACTAGAAGAAGCAATCAATGTAAGTGGTCCTAAGACCCCTTATCCTACAAAATTGACACAAATACTATGAGGCCATTTTATGTATGCATCATAGCCTGGGTATGTCAGGCTGAATTACTTTTAAGGCAGGAAGGTGTCACTGAAATCACATTTGCCAGGCAGTATAGAGTCCTTCAGTCTCGTCCTCCCTCTCTTGATGACCAGCTTTGTGAGTCTGAGTAAGTCCCTTAGCATCTCTGGACCTCTGTTTCATCATCTACTGAAGGGCAACCTATCAAGATACCTGATTGTGAG... | pathogenic | 337,032 |
Mutation at chromosome X, position 100406915, within PCDH19 (protocadherin 19): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_9'] | TTCTCCTATAAAAATCGCCACTAGCAGTCACAGGTTTGAAAGCTAAGAGCAATATTAATTTACATTTCTCCCATCTGAAATGACTTGGTGCTGAAGGAAAGAAAAGTCATGGCCATTTCACTAGTAACAGGATTAAAGCATTTATGAGGCATTGCAGCTGCTCTTTTATGGCACCTGATTGATATTCATGTGTGGTTAGCATTTGTCTACTAACTTGTGTAACGCAGAGAATAGTAAAAGGGAAACAATAATTGCATGGCTGTTACATATTCAGGGGGCTCTGATTCACAGAAGTGTGCATTTCAGACGGTGTCAAATAC... | TTCTCCTATAAAAATCGCCACTAGCAGTCACAGGTTTGAAAGCTAAGAGCAATATTAATTTACATTTCTCCCATCTGAAATGACTTGGTGCTGAAGGAAAGAAAAGTCATGGCCATTTCACTAGTAACAGGATTAAAGCATTTATGAGGCATTGCAGCTGCTCTTTTATGGCACCTGATTGATATTCATGTGTGGTTAGCATTTGTCTACTAACTTGTGTAACGCAGAGAATAGTAAAAGGGAAACAATAATTGCATGGCTGTTACATATTCAGGGGGCTCTGATTCACAGAAGTGTGCATTTCAGACGGTGTCAAATAC... | pathogenic | 337,052 |
Clinical classification of chromosome X, position 100406921, gene PCDH19 (protocadherin 19): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_9'] | TATAAAAATCGCCACTAGCAGTCACAGGTTTGAAAGCTAAGAGCAATATTAATTTACATTTCTCCCATCTGAAATGACTTGGTGCTGAAGGAAAGAAAAGTCATGGCCATTTCACTAGTAACAGGATTAAAGCATTTATGAGGCATTGCAGCTGCTCTTTTATGGCACCTGATTGATATTCATGTGTGGTTAGCATTTGTCTACTAACTTGTGTAACGCAGAGAATAGTAAAAGGGAAACAATAATTGCATGGCTGTTACATATTCAGGGGGCTCTGATTCACAGAAGTGTGCATTTCAGACGGTGTCAAATACAAACTG... | TATAAAAATCGCCACTAGCAGTCACAGGTTTGAAAGCTAAGAGCAATATTAATTTACATTTCTCCCATCTGAAATGACTTGGTGCTGAAGGAAAGAAAAGTCATGGCCATTTCACTAGTAACAGGATTAAAGCATTTATGAGGCATTGCAGCTGCTCTTTTATGGCACCTGATTGATATTCATGTGTGGTTAGCATTTGTCTACTAACTTGTGTAACGCAGAGAATAGTAAAAGGGAAACAATAATTGCATGGCTGTTACATATTCAGGGGGCTCTGATTCACAGAAGTGTGCATTTCAGACGGTGTCAAATACAAACTG... | pathogenic | 337,055 |
Is the genetic change at chromosome X, position 100407175, within gene PCDH19 (protocadherin 19) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_9'] | TGTTACATATTCAGGGGGCTCTGATTCACAGAAGTGTGCATTTCAGACGGTGTCAAATACAAACTGAACCTACAGGAACATATTTTGACTGATTAACATGCAGACACAAATGGCACAAAAGACACACTGATGTGTAGGTGTGTTGAAAGCACACACACACCTTGGTTGTAAATAGCAGCATCATTCATTTTCAGCAAACTAAAGAAACAACTTTTTTCAACTGTTTCGATGAGACACTGCTGGAAAAAAAATGTCATGTATTATCCTAAATTGGATTCTAGGATTCTAGAAATGCTTAGACTTATGTGCTCTATCCAAAT... | TGTTACATATTCAGGGGGCTCTGATTCACAGAAGTGTGCATTTCAGACGGTGTCAAATACAAACTGAACCTACAGGAACATATTTTGACTGATTAACATGCAGACACAAATGGCACAAAAGACACACTGATGTGTAGGTGTGTTGAAAGCACACACACACCTTGGTTGTAAATAGCAGCATCATTCATTTTCAGCAAACTAAAGAAACAACTTTTTTCAACTGTTTCGATGAGACACTGCTGGAAAAAAAATGTCATGTATTATCCTAAATTGGATTCTAGGATTCTAGAAATGCTTAGACTTATGTGCTCTATCCAAAT... | pathogenic | 337,065 |
Chromosome X, position 100407331, gene PCDH19 (protocadherin 19): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_9'] | ACACCTTGGTTGTAAATAGCAGCATCATTCATTTTCAGCAAACTAAAGAAACAACTTTTTTCAACTGTTTCGATGAGACACTGCTGGAAAAAAAATGTCATGTATTATCCTAAATTGGATTCTAGGATTCTAGAAATGCTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCAC... | ACACCTTGGTTGTAAATAGCAGCATCATTCATTTTCAGCAAACTAAAGAAACAACTTTTTTCAACTGTTTCGATGAGACACTGCTGGAAAAAAAATGTCATGTATTATCCTAAATTGGATTCTAGGATTCTAGAAATGCTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCAC... | pathogenic | 337,069 |
Evaluate this variant at chromosome X, position 100407506, gene PCDH19 (protocadherin 19): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Bilateral_tonic-clonic_seizure', 'Delayed_speech_and_language_development', 'Developmental_and_epileptic_encephalopathy,_9', 'Frontal_cortical_atrophy', 'Generalized-onset_seizure', 'Generalized_non-motor_(absence)_seizure', 'Global_developmental_delay', 'Hand_tremor', 'Long_palpebral_fissure', 'Prominent... | CTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGT... | CTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGT... | pathogenic | 337,076 |
Regarding the variant at chromosome X and position 100407506, affecting gene PCDH19 (protocadherin 19): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_9', 'Inborn_genetic_diseases'] | CTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGT... | CTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGT... | pathogenic | 337,077 |
Variant in gene PCDH19 (protocadherin 19), located at chromosome X position 100407535: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_9'] | AGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTG... | AGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTG... | pathogenic | 337,081 |
A genetic variant on chromosome X, position 100407603, affects the gene PCDH19 (protocadherin 19). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_9', 'Inborn_genetic_diseases'] | CTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGATGTTTGGGGACTAGATAAAAAACA... | CTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGATGTTTGGGGACTAGATAAAAAACA... | pathogenic | 337,089 |
Mutation at chromosome X, position 100407631, within PCDH19 (protocadherin 19): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic | GACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGATGTTTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAAT... | GACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGATGTTTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAAT... | pathogenic | 337,090 |
Clinically, how would you classify the variant at chromosome X, position 100407718, gene PCDH19 (protocadherin 19): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_9'] | GCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGATGTTTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAATCACCTGCATCTCCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAG... | GCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATCTGGATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGATGTTTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAATCACCTGCATCTCCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAG... | pathogenic | 337,095 |
The mutation impacting PCDH19 (protocadherin 19) on chromosome X at position 100407792: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_9'] | ATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGATGTTTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAATCACCTGCATCTCCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACT... | ATGCAAAGTCTTGTTCCTCATTGGGATGTTTGGTCTCCACACTACCAACCAACCAGATATTTGAAAACATACAGATGCCTGATAGAATTTCACTTTATATAGCCAGATGTTTGGGGACTAGATAAAAAACAAGCCAAGAATAAACTAAAAACCACTAATCACCTGCATCTCCACACACTCCTGTTCTCTCCTCCCCCTCATCTCCCTTTCCCATCTTACACTCCCACTCCCAGTCTCTCTCCAGAGTTCATCACTGCAACAAGACAGGGTAGCTGCCAACACTCCCTCTCCTTTCATTCAGTACCTGTCCCAAAAACACT... | pathogenic | 337,099 |
Considering the genetic mutation at chromosome X, position 100408465, impacting PCDH19 (protocadherin 19): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_9'] | TCATCCAAGACAAAGAAAGAAAACTTGGCTTTACCTGCAGTTGTAGGTCCGGATCTCTTTGTTGTCTCGCTTGCACTTGATTGCCACGAAGATCATAGTTACAAAGAGGATGCCCGCAATGGAGCCCAGGGCAATAATGAAAATCAAGGACAAGTTCACAGAGCCCATTGACTCTTGGGCATCGAGAGCAGGGGACAAGTAGATTAGGACGAGAGCAGAGGCAGAGAGAGATGTCTTGCCGTGGTCGTGAGCCACCACGATAAGCTCATAGGAGGACTTGGAGCTCTCCCCGAAGGTGCGGGTGGTTCTGACTTCGCCAT... | TCATCCAAGACAAAGAAAGAAAACTTGGCTTTACCTGCAGTTGTAGGTCCGGATCTCTTTGTTGTCTCGCTTGCACTTGATTGCCACGAAGATCATAGTTACAAAGAGGATGCCCGCAATGGAGCCCAGGGCAATAATGAAAATCAAGGACAAGTTCACAGAGCCCATTGACTCTTGGGCATCGAGAGCAGGGGACAAGTAGATTAGGACGAGAGCAGAGGCAGAGAGAGATGTCTTGCCGTGGTCGTGAGCCACCACGATAAGCTCATAGGAGGACTTGGAGCTCTCCCCGAAGGTGCGGGTGGTTCTGACTTCGCCAT... | pathogenic | 337,145 |
Regarding the variant found on chromosome X at position 100408495 in gene PCDH19 (protocadherin 19): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_9', 'Inborn_genetic_diseases'] | TTACCTGCAGTTGTAGGTCCGGATCTCTTTGTTGTCTCGCTTGCACTTGATTGCCACGAAGATCATAGTTACAAAGAGGATGCCCGCAATGGAGCCCAGGGCAATAATGAAAATCAAGGACAAGTTCACAGAGCCCATTGACTCTTGGGCATCGAGAGCAGGGGACAAGTAGATTAGGACGAGAGCAGAGGCAGAGAGAGATGTCTTGCCGTGGTCGTGAGCCACCACGATAAGCTCATAGGAGGACTTGGAGCTCTCCCCGAAGGTGCGGGTGGTTCTGACTTCGCCATTGACCTGGTCTATTTCAAAGAAGCCGCGGT... | TTACCTGCAGTTGTAGGTCCGGATCTCTTTGTTGTCTCGCTTGCACTTGATTGCCACGAAGATCATAGTTACAAAGAGGATGCCCGCAATGGAGCCCAGGGCAATAATGAAAATCAAGGACAAGTTCACAGAGCCCATTGACTCTTGGGCATCGAGAGCAGGGGACAAGTAGATTAGGACGAGAGCAGAGGCAGAGAGAGATGTCTTGCCGTGGTCGTGAGCCACCACGATAAGCTCATAGGAGGACTTGGAGCTCTCCCCGAAGGTGCGGGTGGTTCTGACTTCGCCATTGACCTGGTCTATTTCAAAGAAGCCGCGGT... | pathogenic | 337,147 |
Gene BTK (Bruton tyrosine kinase) variant at chromosome position 101354676 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_agammaglobulinemia_1', 'X-linked_agammaglobulinemia', 'X-linked_agammaglobulinemia_with_growth_hormone_deficiency'] | GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCTGCCTGGCCAACATGGTGAAATGCTGTCTCTACTAAAAATGCAAAAATTAGCTGGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAAATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTGTCACCAAAAAAAAAAAAAAAAATTAGCTTGGTGTGGTGGTGCACGCCTATAAT... | GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCTGCCTGGCCAACATGGTGAAATGCTGTCTCTACTAAAAATGCAAAAATTAGCTGGGCACGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAAATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTGTGTCACCAAAAAAAAAAAAAAAAATTAGCTTGGTGTGGTGGTGCACGCCTATAAT... | pathogenic | 337,258 |
Clinically, how would you classify the variant at chromosome X, position 101360120, gene BTK (Bruton tyrosine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['X-linked_agammaglobulinemia', 'X-linked_agammaglobulinemia_with_growth_hormone_deficiency'] | GCCTCTTTTGTGTCTTCTCTTAACACTGAACATCAATCACCAAATAAAGAGTCAGTCCCTGTTGGGTGTAGGTCTGCCTCTGACCACCTCTTTACCAGCTTCTACCCAGTATCACAGGGATTTCCTTTCACAGTGAATTCACACTGTCCTGTGAGGCAGATTCTTCCTCTTATCACCTTGTCCTGCATTGCTTATCCTGGTGTCTGTAACTCCCTTCTCAGTTGCCCCTGGTACTCACCTGCAGAGTTGTGCTGATGGTAGTTAATGAGCTCAGGGATGGTGCTGAAAAGGTGCTTCTCAGCCAGGTAATACTGGCTCTG... | GCCTCTTTTGTGTCTTCTCTTAACACTGAACATCAATCACCAAATAAAGAGTCAGTCCCTGTTGGGTGTAGGTCTGCCTCTGACCACCTCTTTACCAGCTTCTACCCAGTATCACAGGGATTTCCTTTCACAGTGAATTCACACTGTCCTGTGAGGCAGATTCTTCCTCTTATCACCTTGTCCTGCATTGCTTATCCTGGTGTCTGTAACTCCCTTCTCAGTTGCCCCTGGTACTCACCTGCAGAGTTGTGCTGATGGTAGTTAATGAGCTCAGGGATGGTGCTGAAAAGGTGCTTCTCAGCCAGGTAATACTGGCTCTG... | pathogenic | 337,282 |
Considering the variant on chromosome X, location 101360622, involving gene BTK (Bruton tyrosine kinase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['X-linked_agammaglobulinemia', 'X-linked_agammaglobulinemia_with_growth_hormone_deficiency'] | CCCCTGTTCTTTGTCCTCAGGGCCTTGGAATAGTAGCACTCACCCTGTGGATTTAGCAAACACAGACACTGTATATTTGCCAGCTTTGCTGGAGTCTCTGACAATGAAACCTCCTTCTTTCCCCTGAAACAACGAAAAAGAAGCTGTCTGTAGGAGGAAGTGGTGCTCACACCTGCATCCCACCTGCCCAAACTTGAGAGAGAAAATAGAACAACCCCTGATTTTACTGCCAAGTTCCACGCTTGAGCTACAGCCTCATTGCTTTTAATATTAAAAGGTGCAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATT... | CCCCTGTTCTTTGTCCTCAGGGCCTTGGAATAGTAGCACTCACCCTGTGGATTTAGCAAACACAGACACTGTATATTTGCCAGCTTTGCTGGAGTCTCTGACAATGAAACCTCCTTCTTTCCCCTGAAACAACGAAAAAGAAGCTGTCTGTAGGAGGAAGTGGTGCTCACACCTGCATCCCACCTGCCCAAACTTGAGAGAGAAAATAGAACAACCCCTGATTTTACTGCCAAGTTCCACGCTTGAGCTACAGCCTCATTGCTTTTAATATTAAAAGGTGCAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATT... | pathogenic | 337,288 |
Assess the variant on chromosome X, position 101360688, impacting BTK (Bruton tyrosine kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['X-linked_agammaglobulinemia', 'X-linked_agammaglobulinemia_with_growth_hormone_deficiency'] | CACTGTATATTTGCCAGCTTTGCTGGAGTCTCTGACAATGAAACCTCCTTCTTTCCCCTGAAACAACGAAAAAGAAGCTGTCTGTAGGAGGAAGTGGTGCTCACACCTGCATCCCACCTGCCCAAACTTGAGAGAGAAAATAGAACAACCCCTGATTTTACTGCCAAGTTCCACGCTTGAGCTACAGCCTCATTGCTTTTAATATTAAAAGGTGCAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTG... | CACTGTATATTTGCCAGCTTTGCTGGAGTCTCTGACAATGAAACCTCCTTCTTTCCCCTGAAACAACGAAAAAGAAGCTGTCTGTAGGAGGAAGTGGTGCTCACACCTGCATCCCACCTGCCCAAACTTGAGAGAGAAAATAGAACAACCCCTGATTTTACTGCCAAGTTCCACGCTTGAGCTACAGCCTCATTGCTTTTAATATTAAAAGGTGCAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTG... | pathogenic | 337,291 |
A genetic variant at chromosome X, position 101362605, affecting gene BTK (Bruton tyrosine kinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['X-linked_agammaglobulinemia', 'X-linked_agammaglobulinemia_with_growth_hormone_deficiency'] | TGTGGACTCACCCATTTTTATCTCGTGCTCTCCACCATGGTAAGTTGCTTTCCTCCAAGATAAAATATTCATCACCCTTCCGCAGCTGTAGATCATTTGCATTCATTGGCATGTAATCATAAAGGGCCACAACCTTTTTCAGCTCACTTGTGGAGACTGGTGCTGCTGCTGGCTCAGGCGGTAGTGGCTTTTTCAAGATCTATGTAGTTAGGAGAAAAGGTAGGAGGGTTTGTCAAGATACCAAGCACTCTTCTCTTCTCTCCCAACTCTCTGGCTTACTCAAGACACCCAAATCAGGCATACTAAAATATTACTCAGCA... | TGTGGACTCACCCATTTTTATCTCGTGCTCTCCACCATGGTAAGTTGCTTTCCTCCAAGATAAAATATTCATCACCCTTCCGCAGCTGTAGATCATTTGCATTCATTGGCATGTAATCATAAAGGGCCACAACCTTTTTCAGCTCACTTGTGGAGACTGGTGCTGCTGCTGGCTCAGGCGGTAGTGGCTTTTTCAAGATCTATGTAGTTAGGAGAAAAGGTAGGAGGGTTTGTCAAGATACCAAGCACTCTTCTCTTCTCTCCCAACTCTCTGGCTTACTCAAGACACCCAAATCAGGCATACTAAAATATTACTCAGCA... | pathogenic | 337,296 |
Regarding the variant at chromosome X and position 101369854, affecting gene BTK (Bruton tyrosine kinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CCATTTCCAGACTAAAACCTAGCCATTTATCGATGTGGAGCCCAAGCTGGTGATGGTTGTTTATTCCCACAGATAAATCAGTTAACACAACTACTGATCCCTTTCTGTGTGCAAGGCGCTGTATGAGGCATTGTGGAGAGAACTAAAGAAGTACAAGTATACATGTCCTGCAGAGCTCTTATCCCAGTCTCTGCAAATATTTCTGTGGCTGGAGATAGTATATTGGTTCAGGACATGGAGTCTGGGGCCTGAATTCAAAGCCTGACCCTGCCATTTACCAACCGAGGGCCTTTGGGCAAGTTACTTAACCTCTCTGTACC... | CCATTTCCAGACTAAAACCTAGCCATTTATCGATGTGGAGCCCAAGCTGGTGATGGTTGTTTATTCCCACAGATAAATCAGTTAACACAACTACTGATCCCTTTCTGTGTGCAAGGCGCTGTATGAGGCATTGTGGAGAGAACTAAAGAAGTACAAGTATACATGTCCTGCAGAGCTCTTATCCCAGTCTCTGCAAATATTTCTGTGGCTGGAGATAGTATATTGGTTCAGGACATGGAGTCTGGGGCCTGAATTCAAAGCCTGACCCTGCCATTTACCAACCGAGGGCCTTTGGGCAAGTTACTTAACCTCTCTGTACC... | benign | 337,297 |
Evaluate this variant at chromosome X, position 101374560, gene BTK (Bruton tyrosine kinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['X-linked_agammaglobulinemia', 'X-linked_agammaglobulinemia_with_growth_hormone_deficiency'] | GATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGGGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCTCGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCCACCTGAAATGCTATTTTTCTTGGCTGTCAAATTAACTAATATTTAAAATATCTAGTGTTGGGCTGGGCACAGTGGCTCACGCCTGTAATC... | GATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGGGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCTCGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCCACCTGAAATGCTATTTTTCTTGGCTGTCAAATTAACTAATATTTAAAATATCTAGTGTTGGGCTGGGCACAGTGGCTCACGCCTGTAATC... | pathogenic | 337,302 |
A genetic variant at chromosome X, position 101374560, affecting gene BTK (Bruton tyrosine kinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['X-linked_agammaglobulinemia_with_growth_hormone_deficiency'] | GATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGGGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCTCGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCCACCTGAAATGCTATTTTTCTTGGCTGTCAAATTAACTAATATTTAAAATATCTAGTGTTGGGCTGGGCACAGTGGCTCACGCCTGTAATC... | GATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGGGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCTCGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCCACCTGAAATGCTATTTTTCTTGGCTGTCAAATTAACTAATATTTAAAATATCTAGTGTTGGGCTGGGCACAGTGGCTCACGCCTGTAATC... | pathogenic | 337,303 |
Does the genetic variant at chromosome X, position 101374594, impacting gene BTK (Bruton tyrosine kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['BTK-related_disorder', 'X-linked_agammaglobulinemia', 'X-linked_agammaglobulinemia_with_growth_hormone_deficiency'] | TCAAGGGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCTCGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCCACCTGAAATGCTATTTTTCTTGGCTGTCAAATTAACTAATATTTAAAATATCTAGTGTTGGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCAC... | TCAAGGGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCTCGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCCACCTGAAATGCTATTTTTCTTGGCTGTCAAATTAACTAATATTTAAAATATCTAGTGTTGGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCAC... | pathogenic | 337,304 |
Located at chromosome X position 101397813, the variant affecting gene GLA—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Fabry_disease'] | TGAAGACAATAAAATCTTGAGTTTATGTTCACTTCATTTGTTTGCTGTTCATCTTTTGGGAGGGAATAAGCTAGAGCCATCAATACAATTCCGCTTGTGGGGAAATTTATGCCTCTTACTGGTACTACTTGTTTTGCATTGAAGCTGACTGGTTGAGTTCACATCATATGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCT... | TGAAGACAATAAAATCTTGAGTTTATGTTCACTTCATTTGTTTGCTGTTCATCTTTTGGGAGGGAATAAGCTAGAGCCATCAATACAATTCCGCTTGTGGGGAAATTTATGCCTCTTACTGGTACTACTTGTTTTGCATTGAAGCTGACTGGTTGAGTTCACATCATATGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCT... | pathogenic | 337,315 |
Gene mutation in GLA at chromosome X, position 101397862—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Fabry_disease'] | CATCTTTTGGGAGGGAATAAGCTAGAGCCATCAATACAATTCCGCTTGTGGGGAAATTTATGCCTCTTACTGGTACTACTTGTTTTGCATTGAAGCTGACTGGTTGAGTTCACATCATATGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAA... | CATCTTTTGGGAGGGAATAAGCTAGAGCCATCAATACAATTCCGCTTGTGGGGAAATTTATGCCTCTTACTGGTACTACTTGTTTTGCATTGAAGCTGACTGGTTGAGTTCACATCATATGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAA... | pathogenic | 337,318 |
Mutation at chromosome X, position 101397884, within GLA: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Fabry_disease'] | TAGAGCCATCAATACAATTCCGCTTGTGGGGAAATTTATGCCTCTTACTGGTACTACTTGTTTTGCATTGAAGCTGACTGGTTGAGTTCACATCATATGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCA... | TAGAGCCATCAATACAATTCCGCTTGTGGGGAAATTTATGCCTCTTACTGGTACTACTTGTTTTGCATTGAAGCTGACTGGTTGAGTTCACATCATATGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCA... | pathogenic | 337,322 |
Is the genetic variant on chromosome X, position 101397910, gene GLA, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Fabry_disease'] | TGGGGAAATTTATGCCTCTTACTGGTACTACTTGTTTTGCATTGAAGCTGACTGGTTGAGTTCACATCATATGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAA... | TGGGGAAATTTATGCCTCTTACTGGTACTACTTGTTTTGCATTGAAGCTGACTGGTTGAGTTCACATCATATGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAA... | pathogenic | 337,326 |
A genetic variant on chromosome X, position 101397958, affects the gene GLA. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Fabry_disease'] | TGACTGGTTGAGTTCACATCATATGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCC... | TGACTGGTTGAGTTCACATCATATGTTGCAATTTTCTAATTTGGCACTTCAATCACTAGGGGCCTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCC... | pathogenic | 337,330 |
Does the chromosome X mutation at position 101398021 within gene GLA classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic | CTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGT... | CTTATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGT... | pathogenic | 337,339 |
Is chromosome X, position 101398024, gene GLA variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Fabry_disease'] | ATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATG... | ATGAGGCAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATG... | pathogenic | 337,340 |
Does the chromosome X mutation at position 101398030 within gene GLA classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Fabry_disease'] | CAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCC... | CAGTTTGTCATTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCC... | pathogenic | 337,342 |
Does the genetic variant at chromosome X, position 101398040, impacting gene GLA, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Fabry_disease'] | TTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCCAGTGGAG... | TTATGCAATGGTTATTGGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCCAGTGGAG... | pathogenic | 337,346 |
Is the genetic variant on chromosome X, position 101398056, gene GLA, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Fabry_disease'] | GGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCCAGTGGAGTTTTTTTTTTTTTTTT... | GGTTATCATGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCCAGTGGAGTTTTTTTTTTTTTTTT... | pathogenic | 337,349 |
A genetic alteration at chromosome X, position 101398064, in gene GLA—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Fabry_disease'] | TGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCCAGTGGAGTTTTTTTTTTTTTTTTGAGACAGG... | TGTGAGTAGACACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCCAGTGGAGTTTTTTTTTTTTTTTTGAGACAGG... | pathogenic | 337,350 |
Is the chromosome X, position 101398075 variant in GLA clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Fabry_disease'] | ACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCCAGTGGAGTTTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTC... | ACATTTCAGGCTAATAGGGAGAAGTCAGTAACACATTCATAGTGAATATGAGATGTCTTTGCTAAGAGTTAAGTGTCAGATCTTTGTTATAACAGTTAATTTAATAAAGAATTTTGGCATTGTTCTTCAGACACAGTACACTGTAACATATATAACATTGTCTGTGGACTTGGTCTTACACTCTTGAACATTTTGACATTCCCCCTCACATTTTAAAGTAGATATATTTATACCAAAATAACTACAAAGAATAGGTTTTCTAGTGTATGAAACCCCCCAGTGGAGTTTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTC... | pathogenic | 337,353 |
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