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 |
|---|---|---|---|---|---|
A genetic variant on chromosome X, position 64920232, affects the gene ZC4H2 (zinc finger C4H2-type containing). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Inborn_genetic_diseases', 'Wieacker-Wolff_syndrome'] | ACTTAAGGACTATTTAATTTTCTAGAACAGGGGTCAACAAACATTTTCTGTAAAGGCCAGGACAGCAAATACTTTAGACTTTTTACATCATATAAACTTGCTGCAACTACTCAATTCTGTTTTGCATGAAAGAAGTGATAGACAATAGCTTGCATGCATGTTGTTTGCAATAGCTTGCAAACACAGACATGCATGTGGGCCAATAAAACTTTAACGAAAACAGGGAACAGATTAGATTTGACCTGTAGGCTGTAATTTGATGACCCCTGCTCTAGAAGAATGTCTCTTTGTTTGACTATTTACCAATTGATTAGGACCCA... | ACTTAAGGACTATTTAATTTTCTAGAACAGGGGTCAACAAACATTTTCTGTAAAGGCCAGGACAGCAAATACTTTAGACTTTTTACATCATATAAACTTGCTGCAACTACTCAATTCTGTTTTGCATGAAAGAAGTGATAGACAATAGCTTGCATGCATGTTGTTTGCAATAGCTTGCAAACACAGACATGCATGTGGGCCAATAAAACTTTAACGAAAACAGGGAACAGATTAGATTTGACCTGTAGGCTGTAATTTGATGACCCCTGCTCTAGAAGAATGTCTCTTTGTTTGACTATTTACCAATTGATTAGGACCCA... | pathogenic | 335,212 |
Variant in ZC4H2 (zinc finger C4H2-type containing), chromosome X, position 64976354—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Wieacker-Wolff_syndrome'] | CTGAGATTTTCTACATTATCATTTGTTTCAAGTGTATTGTAACTGCTCACTGAAATGTTTTTAGGACAGGTGCTTTAAGATCCTTATCAGATAATTCTAACATGGGTGTTATCTCAGTATTGGCATCTGTTTATTTTCTCTTCTCATTCAAGTGGATATCTTAGTATGGAAAGTGATTTTTGATTAAAAGTTGGATACTCTGGATCTTATTTAAATCTTTTGTTTTAGCAGTCCTCTACCACTCTCTTGGATGGAAGAGGGACAGTAGAAGTCCAGTTTCTCCACTGTCTCTTGACATCCAGTTTGGAGAAGGGCTGTTT... | CTGAGATTTTCTACATTATCATTTGTTTCAAGTGTATTGTAACTGCTCACTGAAATGTTTTTAGGACAGGTGCTTTAAGATCCTTATCAGATAATTCTAACATGGGTGTTATCTCAGTATTGGCATCTGTTTATTTTCTCTTCTCATTCAAGTGGATATCTTAGTATGGAAAGTGATTTTTGATTAAAAGTTGGATACTCTGGATCTTATTTAAATCTTTTGTTTTAGCAGTCCTCTACCACTCTCTTGGATGGAAGAGGGACAGTAGAAGTCCAGTTTCTCCACTGTCTCTTGACATCCAGTTTGGAGAAGGGCTGTTT... | pathogenic | 335,216 |
Chromosome X, position 67545306, gene AR (androgen receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CATACAAAGCAAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTA... | CATACAAAGCAAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTA... | benign | 335,246 |
Evaluate if the mutation on chromosome X at position 67545316 in AR is benign or pathogenic. Disease name(s) if pathogenic? | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,248 |
Determine if the mutation at chromosome X, position 67545316 in gene AR is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,249 |
Considering the genetic mutation at chromosome X, position 67545316, impacting AR: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,250 |
Variant at chromosome X, position 67545316, gene AR: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,251 |
A genetic alteration at chromosome X, position 67545316, in gene AR—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,252 |
Variant at chromosome X, position 67545316, gene AR: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,253 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 67545316, gene AR: what disease(s) if pathogenic? | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,254 |
Is the chromosome X, position 67545316 variant in AR clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,255 |
Evaluate the clinical significance of the mutation at chromosome X, position 67545316 in gene AR: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,256 |
A genetic variant at chromosome X, position 67545316, affecting gene AR—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,257 |
Is the chromosome X, position 67545316 variant in AR clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,258 |
Variant at chromosome position 67545316, chromosome X, gene AR: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,259 |
Variant on chromosome X, at position 67545316, affecting AR: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,260 |
Determine whether the variant at chromosome X, position 67545316, in gene AR is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,261 |
Is chromosome X, position 67545316, gene AR variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,262 |
A genetic alteration at chromosome X, position 67545316, in gene AR—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,263 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 67545316, gene AR. What disease(s) is it linked to if pathogenic? | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,264 |
Does the chromosome X mutation at position 67545316 within gene AR classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,265 |
The mutation impacting AR on chromosome X at position 67545316: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTC... | benign | 335,266 |
Clinical significance of chromosome X, position 67546514, gene AR (androgen receptor): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | benign | 335,280 |
Does the variant on chromosome X at location 67546514 affecting gene AR (androgen receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | benign | 335,281 |
Benign or pathogenic: chromosome X, position 67546514, gene AR (androgen receptor) variant? Disease(s) if pathogenic? | benign | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | benign | 335,282 |
Gene AR (androgen receptor) variant at chromosome position 67546514 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | benign | 335,283 |
Gene AR (androgen receptor) variant at chromosome position 67546514 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | benign | 335,284 |
The mutation in gene AR (androgen receptor) at chromosome X, position 67546514—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | benign | 335,285 |
Is the variant located on chromosome X at position 67546514, gene AR (androgen receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | benign | 335,286 |
Considering the variant on chromosome X, location 67546514, involving gene AR (androgen receptor), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | benign | 335,287 |
Is the genetic mutation found on chromosome X at position 67546514, within the gene AR (androgen receptor), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | benign | 335,288 |
Evaluate this variant at chromosome X, position 67546514, gene AR (androgen receptor): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGAT... | benign | 335,289 |
Determine whether the variant at chromosome X, position 67546601, in gene AR (androgen receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Androgen_resistance_syndrome', 'Kennedy_disease'] | GCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGC... | GCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGC... | pathogenic | 335,296 |
The genetic variant at chromosome X, position 67546750, affecting gene AR (androgen receptor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Androgen_resistance_syndrome', 'Kennedy_disease'] | CAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGA... | CAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGA... | pathogenic | 335,300 |
Is the genetic mutation found on chromosome X at position 67717604, within the gene AR (androgen receptor), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Androgen_resistance_syndrome', 'Kennedy_disease'] | CAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGATGACAAAATTTCAGATAATTCTGGATTTGTT... | CAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGATGACAAAATTTCAGATAATTCTGGATTTGTT... | pathogenic | 335,330 |
The chromosome X, position 67721915 genetic variant in gene AR (androgen receptor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Androgen_resistance_syndrome', 'Kennedy_disease'] | GAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTGTCAGGCACTGTGCTCAGTGTTTTCCAATCTTCATTTCTCCTCTTATTTTCTCTCTTGCACTCC... | GAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTGTCAGGCACTGTGCTCAGTGTTTTCCAATCTTCATTTCTCCTCTTATTTTCTCTCTTGCACTCC... | pathogenic | 335,336 |
Evaluate the clinical significance of the mutation at chromosome X, position 68234501 in gene OPHN1 (oligophrenin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Abnormality_of_the_nervous_system', 'X-linked_intellectual_disability-cerebellar_hypoplasia_syndrome'] | GTAACAACACAGAGAAAATGTTATCAGTCAGGGAAGCTCATAAGAGAATGAGTAGCTTAGGGTTTTACTGCGGGGCTAGTTACACAGGCACACTCTGCCCAGCACAACCAAAATTCAAGAGTACCAGAAGAAAAAGGTGTTCGACATAAGCTACATTATTTGCAGAGCCAGGCTTGGCACAGTCAGCCATTCTTACCCATTAAGGGAAACTTCTAAATCAATGTTGGGAGCTGTTTAACAGTGAAGTTCCCAGATGCCATTCCAAGGGCTAATTTTGTAAACAGGTCTTTCTAAGCATAGCAGTCTCAGGCCTGTTGACT... | GTAACAACACAGAGAAAATGTTATCAGTCAGGGAAGCTCATAAGAGAATGAGTAGCTTAGGGTTTTACTGCGGGGCTAGTTACACAGGCACACTCTGCCCAGCACAACCAAAATTCAAGAGTACCAGAAGAAAAAGGTGTTCGACATAAGCTACATTATTTGCAGAGCCAGGCTTGGCACAGTCAGCCATTCTTACCCATTAAGGGAAACTTCTAAATCAATGTTGGGAGCTGTTTAACAGTGAAGTTCCCAGATGCCATTCCAAGGGCTAATTTTGTAAACAGGTCTTTCTAAGCATAGCAGTCTCAGGCCTGTTGACT... | pathogenic | 335,398 |
Considering the variant on chromosome X, location 69616316, involving gene EDA (ectodysplasin A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia'] | GAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGT... | GAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGT... | pathogenic | 335,429 |
Does the variant on chromosome X at location 69616367 affecting gene EDA (ectodysplasin A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia'] | GAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTG... | GAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTG... | pathogenic | 335,430 |
Chromosome X, position 69616551, gene EDA (ectodysplasin A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTT... | TATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTT... | benign | 335,433 |
Is the variant located on chromosome X at position 69616559, gene EDA (ectodysplasin A), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia', 'Tooth_agenesis,_selective,_X-linked,_1'] | ATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTC... | ATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTC... | pathogenic | 335,434 |
Regarding the variant at chromosome X and position 69616579, affecting gene EDA (ectodysplasin A): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia'] | CGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAAT... | CGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAAT... | pathogenic | 335,435 |
A mutation at chromosome position 69957126 on chromosome X in gene EDA (ectodysplasin A): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia'] | TGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAAT... | TGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAAT... | pathogenic | 335,444 |
Variant at chromosome X, position 70027865, gene EDA (ectodysplasin A): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia', 'Tooth_agenesis,_selective,_X-linked,_1'] | TCTAGGTCTTTAAGGCTACAGGGACTCTTCTGGGAGAGATGTTCTCTGGACCTTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACT... | TCTAGGTCTTTAAGGCTACAGGGACTCTTCTGGGAGAGATGTTCTCTGGACCTTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACT... | pathogenic | 335,448 |
Is the variant located on chromosome X at position 70027876, gene EDA (ectodysplasin A), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia'] | AAGGCTACAGGGACTCTTCTGGGAGAGATGTTCTCTGGACCTTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGA... | AAGGCTACAGGGACTCTTCTGGGAGAGATGTTCTCTGGACCTTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGA... | pathogenic | 335,449 |
Does the chromosome X mutation at position 70027888 within gene EDA (ectodysplasin A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['EDA-related_disorder', 'Hypohidrotic_X-linked_ectodermal_dysplasia', 'Tooth_agenesis,_selective,_X-linked,_1'] | ACTCTTCTGGGAGAGATGTTCTCTGGACCTTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGAT... | ACTCTTCTGGGAGAGATGTTCTCTGGACCTTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGAT... | pathogenic | 335,450 |
Assess the variant on chromosome X, position 70027917, impacting EDA (ectodysplasin A): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia'] | TTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGA... | TTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGA... | pathogenic | 335,451 |
Located at chromosome X position 70027930, the variant affecting gene EDA (ectodysplasin A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia', 'Tooth_agenesis,_selective,_X-linked,_1'] | TTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAA... | TTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAA... | pathogenic | 335,452 |
A mutation at chromosome position 70027972 on chromosome X in gene EDA (ectodysplasin A): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['EDA-related_disorder', 'Hypohidrotic_X-linked_ectodermal_dysplasia'] | CAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTA... | CAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTA... | pathogenic | 335,456 |
Benign or pathogenic: chromosome X, position 70027978, gene EDA (ectodysplasin A) variant? Disease(s) if pathogenic? | pathogenic; ['Anhidrotic_ectodermal_dysplasia', 'Hypohidrotic_X-linked_ectodermal_dysplasia'] | CAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTA... | CAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTA... | pathogenic | 335,457 |
Gene EDA (ectodysplasin A) variant at chromosome position 70027984 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia'] | TGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTT... | TGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTT... | pathogenic | 335,458 |
Chromosome X, position 70028046, gene EDA (ectodysplasin A): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | ATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACC... | ATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACC... | benign | 335,461 |
A genetic alteration at chromosome X, position 70033424, in gene EDA (ectodysplasin A)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia'] | CTTCCCCCAAAGAAACATGAACATTCATGAAAGAACAGCACTTTGGAATAATGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGT... | CTTCCCCCAAAGAAACATGAACATTCATGAAAGAACAGCACTTTGGAATAATGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGT... | pathogenic | 335,471 |
The genetic variant at chromosome X, position 70402701, affecting gene KIF4A (kinesin family member 4A): benign or pathogenic? Disease name(s) if pathogenic? | benign | AGCCAGACATTACAGAGATTTGCAAAAGTGTAAAATAATTCCTTTTCTTACTATTTATTATCTCAGAAAATGCTACTTTTCAGAAAATATGTAATGTATAATAGGTTTATGTTTTTTTTTTGTTTTTGTTTTTTTGACAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAATGACGTGATCTCGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCCAGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGT... | AGCCAGACATTACAGAGATTTGCAAAAGTGTAAAATAATTCCTTTTCTTACTATTTATTATCTCAGAAAATGCTACTTTTCAGAAAATATGTAATGTATAATAGGTTTATGTTTTTTTTTTGTTTTTGTTTTTTTGACAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAATGACGTGATCTCGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCCAGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGT... | benign | 335,511 |
Evaluate this variant at chromosome X, position 71108290, gene IL2RG (interleukin 2 receptor subunit gamma): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['X-linked_severe_combined_immunodeficiency'] | TGAGGAACTCCCTTCTTGCCAGGAGGAGGGCTTGGGGGTTAGAGATGACCCAACTCCTTCTGACCTTTGGCCATTAGTCCCCTCCCTAAGCTCCTCACTTGTTTTAGGCAACTTTACTTTACTGCGGATGTAATACAGCAACACGACGACAGCACAGTTGGTATTGACCAGAAACTGCTGATTATCTGAGAAGAGATAGGATGGGACACATGGGCCCATTTCTGTGATCTCCACTGCCCTCAGATCCCTCCACCCCCATCCACAGACTCTAGTTCTGTGCTGCCCCTCACCTCCATGTTTGATGAAGATGAACATGCCCT... | TGAGGAACTCCCTTCTTGCCAGGAGGAGGGCTTGGGGGTTAGAGATGACCCAACTCCTTCTGACCTTTGGCCATTAGTCCCCTCCCTAAGCTCCTCACTTGTTTTAGGCAACTTTACTTTACTGCGGATGTAATACAGCAACACGACGACAGCACAGTTGGTATTGACCAGAAACTGCTGATTATCTGAGAAGAGATAGGATGGGACACATGGGCCCATTTCTGTGATCTCCACTGCCCTCAGATCCCTCCACCCCCATCCACAGACTCTAGTTCTGTGCTGCCCCTCACCTCCATGTTTGATGAAGATGAACATGCCCT... | pathogenic | 335,549 |
Located at chromosome X position 71110171, the variant affecting gene IL2RG (interleukin 2 receptor subunit gamma)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['X-linked_severe_combined_immunodeficiency'] | TATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGT... | TATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGT... | pathogenic | 335,565 |
A mutation at chromosome position 71110598 on chromosome X in gene IL2RG (interleukin 2 receptor subunit gamma): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['X-linked_severe_combined_immunodeficiency'] | ATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGA... | ATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGA... | pathogenic | 335,573 |
Determine whether the variant at chromosome X, position 71110663, in gene IL2RG (interleukin 2 receptor subunit gamma) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['X-linked_severe_combined_immunodeficiency'] | ACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAA... | ACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAA... | pathogenic | 335,579 |
Classify the chromosome X variant at position 71110940 affecting gene IL2RG (interleukin 2 receptor subunit gamma) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['X-linked_severe_combined_immunodeficiency'] | AAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCA... | AAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCA... | pathogenic | 335,585 |
Evaluate if the mutation on chromosome X at position 71111039 in IL2RG is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['X-linked_severe_combined_immunodeficiency'] | TATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGG... | TATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGG... | pathogenic | 335,595 |
Is the chromosome X, position 71119486 variant in MED12 (mediator complex subunit 12) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TTGTTTATTGTTATTTGTTACTTTTGTTACAGCACACTGGCTGTCTTTTCTCTAAAAGGCAATACAAGGCCGGCACAGTGGCGCACGCCTGTAGTCCAGGCTACTGGGAGGCTGAGGCGGGAGGATCGCTGGAGTCCAGAAGGTTGATGCTGCAGTGAGCCGTGATAGCGCCACTGCACTCCAGCCTAGGCGACAGAGGGAGAACCTGCCTCAAAATAAACAAATAGCAATACGACAATAGGATATTGGCTCTGGAATTCAGAATCTTAGTGCCAGCTCTGTTACTCAGTAGCTGTATAATATTGGATAAGTGAATTTTC... | TTGTTTATTGTTATTTGTTACTTTTGTTACAGCACACTGGCTGTCTTTTCTCTAAAAGGCAATACAAGGCCGGCACAGTGGCGCACGCCTGTAGTCCAGGCTACTGGGAGGCTGAGGCGGGAGGATCGCTGGAGTCCAGAAGGTTGATGCTGCAGTGAGCCGTGATAGCGCCACTGCACTCCAGCCTAGGCGACAGAGGGAGAACCTGCCTCAAAATAAACAAATAGCAATACGACAATAGGATATTGGCTCTGGAATTCAGAATCTTAGTGCCAGCTCTGTTACTCAGTAGCTGTATAATATTGGATAAGTGAATTTTC... | benign | 335,614 |
Evaluate this variant at chromosome X, position 71123573, gene MED12: benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GAGAGAACTAGGGGCTCTGATGGTCGTGTCTTCACAGTACTCTGGGGAATTTGTTCAGTCTGCATACCTGTCCCGCCGGCTTGCCTACTTCTGTACACGGAGACTGGCCCTGCAGCTGGATGGTGTGAGCAGTCACTCATCTCATGTTATATCTGCTCAGTCAACAAGCACGCTACCCACCACCCCTGCTCCTCAGCCCCCAACTAGCAGCACACCCTCGACTCCCTTTAGTGACCTGCTTATGTGCCCTCAGCACCGGCCCCTGGTTTTTGGCCTCAGCTGTATCCTACAGGTAGGTACTAGGCGGGCCCAAGGAAGCA... | GAGAGAACTAGGGGCTCTGATGGTCGTGTCTTCACAGTACTCTGGGGAATTTGTTCAGTCTGCATACCTGTCCCGCCGGCTTGCCTACTTCTGTACACGGAGACTGGCCCTGCAGCTGGATGGTGTGAGCAGTCACTCATCTCATGTTATATCTGCTCAGTCAACAAGCACGCTACCCACCACCCCTGCTCCTCAGCCCCCAACTAGCAGCACACCCTCGACTCCCTTTAGTGACCTGCTTATGTGCCCTCAGCACCGGCCCCTGGTTTTTGGCCTCAGCTGTATCCTACAGGTAGGTACTAGGCGGGCCCAAGGAAGCA... | benign | 335,674 |
The genetic variant at chromosome X, position 71128574, affecting gene MED12 (mediator complex subunit 12): benign or pathogenic? Disease name(s) if pathogenic? | benign | GCCATATAGCGGCTACGGAGGGTCATAAGGACAGGCGTAGAGGCTCCAGCCAGTTTCCCAAGCTATTTGAAGGGGCAGAAAGACTAGCATGGGGGGAGTGGAACATGAGCTAAGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCT... | GCCATATAGCGGCTACGGAGGGTCATAAGGACAGGCGTAGAGGCTCCAGCCAGTTTCCCAAGCTATTTGAAGGGGCAGAAAGACTAGCATGGGGGGAGTGGAACATGAGCTAAGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCT... | benign | 335,748 |
Is the genetic mutation found on chromosome X at position 71128584, within the gene MED12 (mediator complex subunit 12), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GGCTACGGAGGGTCATAAGGACAGGCGTAGAGGCTCCAGCCAGTTTCCCAAGCTATTTGAAGGGGCAGAAAGACTAGCATGGGGGGAGTGGAACATGAGCTAAGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGT... | GGCTACGGAGGGTCATAAGGACAGGCGTAGAGGCTCCAGCCAGTTTCCCAAGCTATTTGAAGGGGCAGAAAGACTAGCATGGGGGGAGTGGAACATGAGCTAAGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGT... | benign | 335,750 |
A genetic alteration at chromosome X, position 71131537, in gene MED12 (mediator complex subunit 12)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCA... | CTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCA... | benign | 335,780 |
A genetic variant at chromosome X, position 71132767, affecting gene MED12 (mediator complex subunit 12)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | AGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACG... | AGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACG... | benign | 335,796 |
A genetic alteration at chromosome X, position 71132767, in gene MED12 (mediator complex subunit 12)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACG... | AGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACG... | benign | 335,797 |
A mutation at chromosome position 71132767 on chromosome X in gene MED12 (mediator complex subunit 12): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | AGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACG... | AGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACG... | benign | 335,798 |
Gene MED12 (mediator complex subunit 12) variant at chromosome X, position 71132910—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cholestasis-pigmentary_retinopathy-cleft_palate_syndrome', 'MED12-related_disorder', 'Nonspecific_Intellectual_Disability'] | TAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGT... | TAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGT... | pathogenic | 335,804 |
Does the chromosome X mutation at position 71137259 within gene MED12 (mediator complex subunit 12) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cholestasis-pigmentary_retinopathy-cleft_palate_syndrome'] | GGGCAACAAGATTGCTGGCTTCGATTCCATCTTCAAGAAGGAGGCATGTTCCATTGTCTGCCCGTGTCCCTTGCCTTTTTTCCCCTTTGGGCAAGAACTTTGCCTGCATCAGCTTTGTAGCTCCAACAGACTCATCAGATTCAGGAGCCCATCAGTCTCTGCCGGTGAACACCATCTCTGGGGTTTTGAGCAAATCACTTAACTTTCCTTACATTTCATCTCCATCTTTGAAGTCCCACCCTCTTTCCTTCACCCTGCCCTCACCTTTTAACATACCACCCATTTTTCAATACCCTACCCTCCTCTTTCCTCTGCTCCAC... | GGGCAACAAGATTGCTGGCTTCGATTCCATCTTCAAGAAGGAGGCATGTTCCATTGTCTGCCCGTGTCCCTTGCCTTTTTTCCCCTTTGGGCAAGAACTTTGCCTGCATCAGCTTTGTAGCTCCAACAGACTCATCAGATTCAGGAGCCCATCAGTCTCTGCCGGTGAACACCATCTCTGGGGTTTTGAGCAAATCACTTAACTTTCCTTACATTTCATCTCCATCTTTGAAGTCCCACCCTCTTTCCTTCACCCTGCCCTCACCTTTTAACATACCACCCATTTTTCAATACCCTACCCTCCTCTTTCCTCTGCTCCAC... | pathogenic | 335,849 |
Evaluate this variant at chromosome X, position 71137791, gene MED12 (mediator complex subunit 12): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['FG_syndrome_1', 'MED12-related_intellectual_disability_syndrome'] | TCCATCTGTCTCTTTTCCTCCGTCTCTGTCTCTCTCCCTGTCTGACTCGTTTGCCTTTCTTTGTCTCTCCACCTTTTTGTCTCTCTCTTCCTGTTTCTTTCTCTCTCTGACTCTTTCTCGGCCTGCCTAAAGGCAGAGTCTCTCCCTGCCTTCCTCTCTCTCTTTCTCTGCCTTCCTTTTTCTGTCTTCCTCTGAATGTCAATCCCTCTCCCTCCCCGCTCCCTCTCTGGCTTTCTCCCCAACCCCTTTCTCTCCCGATCTTCTCTCCCCACACGCCCCCCGCCCCGTTAGTTCATCTCCTCTCCTGGTCTGGGCTGGCT... | TCCATCTGTCTCTTTTCCTCCGTCTCTGTCTCTCTCCCTGTCTGACTCGTTTGCCTTTCTTTGTCTCTCCACCTTTTTGTCTCTCTCTTCCTGTTTCTTTCTCTCTCTGACTCTTTCTCGGCCTGCCTAAAGGCAGAGTCTCTCCCTGCCTTCCTCTCTCTCTTTCTCTGCCTTCCTTTTTCTGTCTTCCTCTGAATGTCAATCCCTCTCCCTCCCCGCTCCCTCTCTGGCTTTCTCCCCAACCCCTTTCTCTCCCGATCTTCTCTCCCCACACGCCCCCCGCCCCGTTAGTTCATCTCCTCTCCTGGTCTGGGCTGGCT... | pathogenic | 335,863 |
Considering the variant on chromosome X, location 71140749, involving gene MED12 (mediator complex subunit 12), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TGAGCCGAGATTGTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGG... | TGAGCCGAGATTGTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGG... | benign | 335,875 |
Clinically, how would you classify the variant at chromosome X, position 71140761, gene MED12 (mediator complex subunit 12): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGT... | GTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGT... | benign | 335,878 |
Gene MED12 (mediator complex subunit 12) variant at chromosome position 71140773 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAG... | TCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAG... | benign | 335,880 |
Classify the chromosome X variant at position 71140797 affecting gene MED12 (mediator complex subunit 12) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATA... | TGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATA... | benign | 335,885 |
Variant in MED12 (mediator complex subunit 12), chromosome X, position 71140797—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATA... | TGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATA... | benign | 335,887 |
Mutation at chromosome X, position 71140800, within MED12 (mediator complex subunit 12): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['FG_syndrome_1', 'MED12-related_disorder'] | CTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTT... | CTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTT... | pathogenic | 335,889 |
For chromosome X, position 71141265, gene MED12 (mediator complex subunit 12): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGAT... | TCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGAT... | benign | 335,895 |
Clinical classification of chromosome X, position 71141301, gene MED12 (mediator complex subunit 12): benign or pathogenic? Disease(s) if pathogenic? | benign | GGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAAT... | GGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAAT... | benign | 335,899 |
Is chromosome X, position 71223805, gene GJB1 (gap junction protein beta 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X'] | CTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAA... | CTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAA... | pathogenic | 335,933 |
Is the chromosome X, position 71224098 variant in GJB1 (gap junction protein beta 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X', 'Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_X-linked_dominant_1', 'Inborn_genetic_diseases'] | GAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAG... | GAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAG... | pathogenic | 335,962 |
Is chromosome X, position 71224101, gene GJB1 (gap junction protein beta 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X'] | GATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTG... | GATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTG... | pathogenic | 335,964 |
Variant in GJB1 (gap junction protein beta 1), chromosome X, position 71224156—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X', 'Inborn_genetic_diseases'] | CTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGA... | CTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGA... | pathogenic | 335,970 |
Considering the genetic mutation at chromosome X, position 71224229, impacting GJB1 (gap junction protein beta 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X', 'Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_X-linked_dominant_1'] | AAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTA... | AAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTA... | pathogenic | 335,983 |
Determine whether the variant at chromosome X, position 71224262, in gene GJB1 (gap junction protein beta 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X', 'Charcot-Marie-Tooth_disease'] | TTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGC... | TTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGC... | pathogenic | 335,993 |
Is the genetic variant on chromosome X, position 71224328, gene GJB1 (gap junction protein beta 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X', 'Charcot-Marie-Tooth_disease_X-linked_dominant_1'] | GCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAG... | GCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAG... | pathogenic | 336,001 |
Variant at chromosome position 71224513, chromosome X, gene GJB1 (gap junction protein beta 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X'] | CCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAG... | CCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAG... | pathogenic | 336,009 |
Mutation found at chromosome X position 71377717, gene TAF1 (TATA-box binding protein associated factor 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GTTGTGCAGGTTGGAGTGCAGTAGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGGGGCTGGAACTCCTGACCTCAAGTGATCCGCTCGCCTTGGTCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCTGCCGAACCCGGGAATCTTAAAGAGTTTCTTAAGTAATTTATGATACAACTGATCTGTATACTGGTATTTGGAAACTACTTGTTTAGATGGCTTTATTTTAAATGAAGTGGTTAAATTAGGAAGGTGCCCTGGAATGTTGATA... | GTTGTGCAGGTTGGAGTGCAGTAGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGGGGCTGGAACTCCTGACCTCAAGTGATCCGCTCGCCTTGGTCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCTGCCGAACCCGGGAATCTTAAAGAGTTTCTTAAGTAATTTATGATACAACTGATCTGTATACTGGTATTTGGAAACTACTTGTTTAGATGGCTTTATTTTAAATGAAGTGGTTAAATTAGGAAGGTGCCCTGGAATGTTGATA... | benign | 336,045 |
Evaluate the clinical significance of the mutation at chromosome X, position 71556945 in gene OGT (O-linked N-acetylglucosamine (GlcNAc) transferase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | AGCAAAGTAAATCCAGACTTTTAAATTTTTTGTTGTTGTCAAAGGAAAGCCTATTTTTTATGTGGGAGTAGAAAACTTCCCAGTGTAAAGACACATTTTATAAAGGTGTGATTTTGGTTTGAGGTTAAAATATAATACAGCATGAATTATGTAATTAATTACAATTACTTGATATATTTTGATATAGTACAGCTTGAATGAGTTGTAACAAACCATCCATTAAGCATGAGTTACATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTATTTACAGAGCTGTGGCAGCTTATCTTCGTGCCCT... | AGCAAAGTAAATCCAGACTTTTAAATTTTTTGTTGTTGTCAAAGGAAAGCCTATTTTTTATGTGGGAGTAGAAAACTTCCCAGTGTAAAGACACATTTTATAAAGGTGTGATTTTGGTTTGAGGTTAAAATATAATACAGCATGAATTATGTAATTAATTACAATTACTTGATATATTTTGATATAGTACAGCTTGAATGAGTTGTAACAAACCATCCATTAAGCATGAGTTACATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTATTTACAGAGCTGTGGCAGCTTATCTTCGTGCCCT... | benign | 336,093 |
The chromosome X, position 71563316 genetic variant in gene OGT (O-linked N-acetylglucosamine (GlcNAc) transferase): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TCTTCATTCATACTGTTCTCTACTGAGATTGTATTCTGTTAAACTCCTTCAAACTCCTATTCGTCTTTGAAGACCTATTTTCAAATACCAATTCTAGGCTGGGTGCTGTGGCTCACGTGTATAATCCTTTGGGAGGCTGAGGTGGAAGGATTGCTTGAGACCATCATGGGCAACATAGTGAGACCCCATCCCTACCAAAAAAAAAAAAAAGATTACAAATTTCAAATACCAATTTCTCTGTGATATGTTGTTATTCATACATTCAATCCAGAAGTGAACTCTCCTTCCTTTGTGTTCTGTTTCTTTAATGCTTTGGGCCC... | TCTTCATTCATACTGTTCTCTACTGAGATTGTATTCTGTTAAACTCCTTCAAACTCCTATTCGTCTTTGAAGACCTATTTTCAAATACCAATTCTAGGCTGGGTGCTGTGGCTCACGTGTATAATCCTTTGGGAGGCTGAGGTGGAAGGATTGCTTGAGACCATCATGGGCAACATAGTGAGACCCCATCCCTACCAAAAAAAAAAAAAAGATTACAAATTTCAAATACCAATTTCTCTGTGATATGTTGTTATTCATACATTCAATCCAGAAGTGAACTCTCCTTCCTTTGTGTTCTGTTTCTTTAATGCTTTGGGCCC... | benign | 336,096 |
Does the variant impacting HDAC8 (histone deacetylase 8) on chromosome X, position 72572083, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cornelia_de_Lange_syndrome_5'] | TTACGATGAATGAATACGACTATACAGGCTACTACTATCACCAAGGTAGCTGGAAGAAATCCTGTGGTTTGGCCTCAAAAGTGAAATACATAGCCAAGACCCAAGAATTCTTGCTTCTTCTTAAAGAAGACAAATCTATACCACCAGAGGTGAAAAATCTACCCATTAAAATAAAAATTTTGTAATATCTCGGACCGTATTTCCCAGTCCTAAAAGCTCCCTCTTCTAGTACCCTTCCATTTATTTTGGTAAATGTTAAAAAACACTTACTGAAAACCTCCCTATTTAACAGTAAGCAAACTGGACAGTTTTGCTTTGCT... | TTACGATGAATGAATACGACTATACAGGCTACTACTATCACCAAGGTAGCTGGAAGAAATCCTGTGGTTTGGCCTCAAAAGTGAAATACATAGCCAAGACCCAAGAATTCTTGCTTCTTCTTAAAGAAGACAAATCTATACCACCAGAGGTGAAAAATCTACCCATTAAAATAAAAATTTTGTAATATCTCGGACCGTATTTCCCAGTCCTAAAAGCTCCCTCTTCTAGTACCCTTCCATTTATTTTGGTAAATGTTAAAAAACACTTACTGAAAACCTCCCTATTTAACAGTAAGCAAACTGGACAGTTTTGCTTTGCT... | pathogenic | 336,138 |
Variant in HDAC8 (histone deacetylase 8), chromosome X, position 72572125—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AAGGTAGCTGGAAGAAATCCTGTGGTTTGGCCTCAAAAGTGAAATACATAGCCAAGACCCAAGAATTCTTGCTTCTTCTTAAAGAAGACAAATCTATACCACCAGAGGTGAAAAATCTACCCATTAAAATAAAAATTTTGTAATATCTCGGACCGTATTTCCCAGTCCTAAAAGCTCCCTCTTCTAGTACCCTTCCATTTATTTTGGTAAATGTTAAAAAACACTTACTGAAAACCTCCCTATTTAACAGTAAGCAAACTGGACAGTTTTGCTTTGCTTTGATATCTTGTTTGTCATAAAATAATTTTTTGAAATGTTAA... | AAGGTAGCTGGAAGAAATCCTGTGGTTTGGCCTCAAAAGTGAAATACATAGCCAAGACCCAAGAATTCTTGCTTCTTCTTAAAGAAGACAAATCTATACCACCAGAGGTGAAAAATCTACCCATTAAAATAAAAATTTTGTAATATCTCGGACCGTATTTCCCAGTCCTAAAAGCTCCCTCTTCTAGTACCCTTCCATTTATTTTGGTAAATGTTAAAAAACACTTACTGAAAACCTCCCTATTTAACAGTAAGCAAACTGGACAGTTTTGCTTTGCTTTGATATCTTGTTTGTCATAAAATAATTTTTTGAAATGTTAA... | benign | 336,139 |
Does the variant on chromosome X at location 72572125 affecting gene HDAC8 (histone deacetylase 8) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AAGGTAGCTGGAAGAAATCCTGTGGTTTGGCCTCAAAAGTGAAATACATAGCCAAGACCCAAGAATTCTTGCTTCTTCTTAAAGAAGACAAATCTATACCACCAGAGGTGAAAAATCTACCCATTAAAATAAAAATTTTGTAATATCTCGGACCGTATTTCCCAGTCCTAAAAGCTCCCTCTTCTAGTACCCTTCCATTTATTTTGGTAAATGTTAAAAAACACTTACTGAAAACCTCCCTATTTAACAGTAAGCAAACTGGACAGTTTTGCTTTGCTTTGATATCTTGTTTGTCATAAAATAATTTTTTGAAATGTTAA... | AAGGTAGCTGGAAGAAATCCTGTGGTTTGGCCTCAAAAGTGAAATACATAGCCAAGACCCAAGAATTCTTGCTTCTTCTTAAAGAAGACAAATCTATACCACCAGAGGTGAAAAATCTACCCATTAAAATAAAAATTTTGTAATATCTCGGACCGTATTTCCCAGTCCTAAAAGCTCCCTCTTCTAGTACCCTTCCATTTATTTTGGTAAATGTTAAAAAACACTTACTGAAAACCTCCCTATTTAACAGTAAGCAAACTGGACAGTTTTGCTTTGCTTTGATATCTTGTTTGTCATAAAATAATTTTTTGAAATGTTAA... | benign | 336,140 |
A genetic alteration at chromosome X, position 72609625, in gene PHKA1 (phosphorylase kinase regulatory subunit alpha 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Glycogen_storage_disease_IXd'] | TTTTTTCCCTATAGAATTGTTTGAGCTCCTTATACATTCTGGTTATTAATCCCTTATCAGATAGGTAGTTGGTAAATATTTTCTCCCATTGCACCTTTCCAATTTGCTTTAAATGCTGAATGACTGACTGTAGAATGGTCGATGCTGAGTTCTTCGGCAATTTCTCATGCAGTTTTAAGAGGATCAGCTTCAACAACTGCTCTCAATTGGTCGTTGTCAACTTTCAATAGCAGGCCACTATGCTCCTCATCTTCAAGGCTCTCATCTCCTTTGCAAAACTTCTTGAACCACCACTGCACTGTACATTTGTTAGCAGTTCC... | TTTTTTCCCTATAGAATTGTTTGAGCTCCTTATACATTCTGGTTATTAATCCCTTATCAGATAGGTAGTTGGTAAATATTTTCTCCCATTGCACCTTTCCAATTTGCTTTAAATGCTGAATGACTGACTGTAGAATGGTCGATGCTGAGTTCTTCGGCAATTTCTCATGCAGTTTTAAGAGGATCAGCTTCAACAACTGCTCTCAATTGGTCGTTGTCAACTTTCAATAGCAGGCCACTATGCTCCTCATCTTCAAGGCTCTCATCTCCTTTGCAAAACTTCTTGAACCACCACTGCACTGTACATTTGTTAGCAGTTCC... | pathogenic | 336,160 |
A genetic variant at chromosome X, position 72644474, affecting gene PHKA1 (phosphorylase kinase regulatory subunit alpha 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Glycogen_storage_disease_IXd'] | AGAGACTTCTAAGAGTTACAAAGAAGGTGACTGTAAGATCAACTAGTACTCAAGTGGGTAAGATGTTGGCTAAATAGGGAAATACCTTCCTTATCTCAAGGGATTTAGTGCTAGTGGACTAGTATCTGGAGACTAGAAGTGCATTATAGGTCTGGGGTGACAGGGAATGGCCAAAAAAAATAAAAACAGGAAGCAGGTTCTGGGAAGGGGTGAGGTATGTAACCCACCTAGCAAAGCATCCACCCAAATCAGCCTCAGAAGTTTCAGGAGCCTTGACTTGGTATTTACCTCAGTTAGGGTTGAGTAAATAGAGGGAACCA... | AGAGACTTCTAAGAGTTACAAAGAAGGTGACTGTAAGATCAACTAGTACTCAAGTGGGTAAGATGTTGGCTAAATAGGGAAATACCTTCCTTATCTCAAGGGATTTAGTGCTAGTGGACTAGTATCTGGAGACTAGAAGTGCATTATAGGTCTGGGGTGACAGGGAATGGCCAAAAAAAATAAAAACAGGAAGCAGGTTCTGGGAAGGGGTGAGGTATGTAACCCACCTAGCAAAGCATCCACCCAAATCAGCCTCAGAAGTTTCAGGAGCCTTGACTTGGTATTTACCTCAGTTAGGGTTGAGTAAATAGAGGGAACCA... | pathogenic | 336,176 |
Is the genetic change at chromosome X, position 74421523, within gene SLC16A2 (solute carrier family 16 member 2) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTGGGCTACAGAGCGAGACTGTCTCAAAAAGAAAAAAAAAATTCCAGGCCCATCTTGAACACCACCTCTTCCAGAAGCCCACTGTGATAGTGCAGTCAGATCCTGCCTTCCCTCCTCTGTCTCCTCCCAGGGAGCCTCAAATCCTAGACTCTTTTGGTGAAACACAGGGAGCATGAAGCTTCTCGTTATATGGAGACCTGCCTTGAATTCTAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAG... | CTGGGCTACAGAGCGAGACTGTCTCAAAAAGAAAAAAAAAATTCCAGGCCCATCTTGAACACCACCTCTTCCAGAAGCCCACTGTGATAGTGCAGTCAGATCCTGCCTTCCCTCCTCTGTCTCCTCCCAGGGAGCCTCAAATCCTAGACTCTTTTGGTGAAACACAGGGAGCATGAAGCTTCTCGTTATATGGAGACCTGCCTTGAATTCTAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAG... | benign | 336,202 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 74421523, gene SLC16A2 (solute carrier family 16 member 2). What disease(s) is it linked to if pathogenic? | benign | CTGGGCTACAGAGCGAGACTGTCTCAAAAAGAAAAAAAAAATTCCAGGCCCATCTTGAACACCACCTCTTCCAGAAGCCCACTGTGATAGTGCAGTCAGATCCTGCCTTCCCTCCTCTGTCTCCTCCCAGGGAGCCTCAAATCCTAGACTCTTTTGGTGAAACACAGGGAGCATGAAGCTTCTCGTTATATGGAGACCTGCCTTGAATTCTAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAG... | CTGGGCTACAGAGCGAGACTGTCTCAAAAAGAAAAAAAAAATTCCAGGCCCATCTTGAACACCACCTCTTCCAGAAGCCCACTGTGATAGTGCAGTCAGATCCTGCCTTCCCTCCTCTGTCTCCTCCCAGGGAGCCTCAAATCCTAGACTCTTTTGGTGAAACACAGGGAGCATGAAGCTTCTCGTTATATGGAGACCTGCCTTGAATTCTAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAG... | benign | 336,203 |
Does the genetic variant at chromosome X, position 74421733, impacting gene SLC16A2 (solute carrier family 16 member 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Allan-Herndon-Dudley_syndrome', 'Spastic_paraplegia'] | TAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAGGGACGTGCTCTGTTCGGGCAATGCCTTCCCTGCTGAGTGGCGTGGCCCTGTGATTTTTGAATTTGGCTGATTCCTCTCATATGGCAGCGCAAGCCCCTCAGGACGTCTATATCCTTCCACCCAGCTCCGCCAGCCCTCAGGTGCTTAATGACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTA... | TAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAGGGACGTGCTCTGTTCGGGCAATGCCTTCCCTGCTGAGTGGCGTGGCCCTGTGATTTTTGAATTTGGCTGATTCCTCTCATATGGCAGCGCAAGCCCCTCAGGACGTCTATATCCTTCCACCCAGCTCCGCCAGCCCTCAGGTGCTTAATGACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTA... | pathogenic | 336,207 |
Variant at chromosome position 74421993, chromosome X, gene SLC16A2 (solute carrier family 16 member 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases', 'Spastic_paraplegia'] | ACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTC... | ACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTC... | pathogenic | 336,214 |
The mutation impacting SLC16A2 (solute carrier family 16 member 2) on chromosome X at position 74422037: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Allan-Herndon-Dudley_syndrome', 'Spastic_paraplegia'] | GCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCT... | GCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCT... | pathogenic | 336,215 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.