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 variant on chromosome X, position 154030832, gene MECP2 (methyl-CpG binding protein 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Severe_neonatal-onset_encephalopathy_with_microcephaly'] | TCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAA... | TCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAA... | pathogenic | 341,230 |
Is the genetic mutation found on chromosome X at position 154030921, within the gene MECP2 (methyl-CpG binding protein 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['MECP2-related_disorder', 'Rett_syndrome'] | CCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACA... | CCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACA... | pathogenic | 341,252 |
Does the variant impacting MECP2 (methyl-CpG binding protein 2) on chromosome X, position 154030968, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTT... | CAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTT... | pathogenic | 341,269 |
Considering the genetic mutation at chromosome X, position 154030987, impacting MECP2 (methyl-CpG binding protein 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATA... | CCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATA... | pathogenic | 341,274 |
For chromosome X, position 154031008, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Rett_syndrome'] | AAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCT... | AAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCT... | pathogenic | 341,280 |
Variant in gene MECP2 (methyl-CpG binding protein 2), located at chromosome X position 154031019: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'MECP2-related_disorder', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'Syndromic_X-linked_intellectual_disability_Lubs_type', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | GGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCA... | GGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCA... | pathogenic | 341,285 |
Is the genetic variant on chromosome X, position 154031021, gene MECP2 (methyl-CpG binding protein 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Inborn_genetic_diseases', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'Syndromic_X-linked_intellectual_disability_Lubs_type', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome', 'likely other unspecified diseases'] | GCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACA... | GCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACA... | pathogenic | 341,287 |
Variant chromosome X, position 154031068, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s)? | pathogenic; ['Rett_syndrome'] | CTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCT... | CTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCT... | pathogenic | 341,293 |
Determine if the mutation at chromosome X, position 154031072 in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Rett_syndrome'] | AGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCA... | AGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCA... | pathogenic | 341,294 |
Is the chromosome X, position 154031074 variant in MECP2 (methyl-CpG binding protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGA... | CCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGA... | pathogenic | 341,295 |
Is chromosome X, position 154031074, gene MECP2 (methyl-CpG binding protein 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Rett_syndrome'] | CCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGA... | CCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGA... | pathogenic | 341,296 |
Gene MECP2 (methyl-CpG binding protein 2) variant at chromosome X, position 154031074—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['MECP2-related_disorder', 'Rett_syndrome', 'Seizure', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGA... | CCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGA... | pathogenic | 341,297 |
A genetic variant at chromosome X, position 154031075, affecting gene MECP2 (methyl-CpG binding protein 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAG... | CGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAG... | pathogenic | 341,299 |
For chromosome X, position 154031085, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Rett_syndrome'] | GGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTG... | GGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTG... | pathogenic | 341,305 |
A mutation at chromosome position 154031112 on chromosome X in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Inborn_genetic_diseases', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAA... | GAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAA... | pathogenic | 341,312 |
Classify the chromosome X variant at position 154031117 affecting gene MECP2 (methyl-CpG binding protein 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTG... | GATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTG... | pathogenic | 341,314 |
Does the chromosome X mutation at position 154031117 within gene MECP2 (methyl-CpG binding protein 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'likely other unspecified diseases'] | GATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTG... | GATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTG... | pathogenic | 341,315 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 154031131, gene MECP2 (methyl-CpG binding protein 2): what disease(s) if pathogenic? | pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAG... | GAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAG... | pathogenic | 341,318 |
Benign or pathogenic: chromosome X, position 154031132, gene MECP2 (methyl-CpG binding protein 2) variant? Disease(s) if pathogenic? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | AGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGC... | AGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGC... | pathogenic | 341,319 |
Variant at chromosome X, position 154031132, gene MECP2 (methyl-CpG binding protein 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | AGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGC... | AGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGC... | pathogenic | 341,320 |
Regarding the variant found on chromosome X at position 154031137 in gene MECP2 (methyl-CpG binding protein 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCC... | GATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCC... | pathogenic | 341,323 |
Does the variant impacting MECP2 (methyl-CpG binding protein 2) on chromosome X, position 154031174, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTT... | CAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTT... | pathogenic | 341,335 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 154031346, gene MECP2 (methyl-CpG binding protein 2): what disease(s) if pathogenic? | pathogenic; ['Rett_syndrome'] | TGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCC... | TGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCC... | pathogenic | 341,373 |
Evaluate this variant at chromosome X, position 154031466, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | AATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGT... | AATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGT... | benign | 341,413 |
The mutation in gene MECP2 (methyl-CpG binding protein 2) at chromosome X, position 154032197—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCC... | GGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCC... | benign | 341,423 |
Variant on chromosome X, at position 154032288, affecting MECP2 (methyl-CpG binding protein 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'Syndromic_X-linked_intellectual_disability_Lubs_type', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | GAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGT... | GAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGT... | pathogenic | 341,439 |
Variant in gene MECP2 (methyl-CpG binding protein 2), located at chromosome X position 154032308: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Rett_syndrome'] | TTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTT... | TTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTT... | pathogenic | 341,442 |
Is the genetic mutation found on chromosome X at position 154032382, within the gene MECP2 (methyl-CpG binding protein 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCT... | GTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCT... | pathogenic | 341,451 |
The chromosome X, position 154032393 genetic variant in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | TTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT... | TTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT... | pathogenic | 341,453 |
The genetic variant at chromosome X, position 154032470, affecting gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | GGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTT... | GGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTT... | pathogenic | 341,461 |
Gene MECP2 (methyl-CpG binding protein 2) variant at chromosome position 154032472 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Angelman_syndrome', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | CCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGG... | CCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGG... | pathogenic | 341,462 |
Benign or pathogenic: chromosome X, position 154032480, gene MECP2 (methyl-CpG binding protein 2) variant? Disease(s) if pathogenic? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | TGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAG... | TGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAG... | pathogenic | 341,463 |
Determine if the mutation at chromosome X, position 154032507 in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Rett_syndrome', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome'] | CTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGG... | CTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGG... | pathogenic | 341,464 |
Evaluate this variant at chromosome X, position 154032527, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Rett_syndrome'] | TACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCG... | TACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCG... | pathogenic | 341,467 |
Assess the variant on chromosome X, position 154097600, impacting MECP2 (methyl-CpG binding protein 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['MECP2-related_disorder', 'Rett_syndrome'] | GTCTCAAGCTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGAC... | GTCTCAAGCTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGAC... | pathogenic | 341,476 |
Regarding the variant at chromosome X and position 154097608, affecting gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome'] | CTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTT... | CTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTT... | pathogenic | 341,479 |
Is the genetic mutation found on chromosome X at position 154097608, within the gene MECP2 (methyl-CpG binding protein 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTT... | CTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTT... | pathogenic | 341,480 |
Regarding the variant at chromosome X and position 154097608, affecting gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly'] | CTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTT... | CTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTT... | pathogenic | 341,481 |
The chromosome X, position 154097610 genetic variant in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Rett_syndrome'] | CAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTAT... | CAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTAT... | pathogenic | 341,482 |
Classify the chromosome X variant at position 154097618 affecting gene MECP2 (methyl-CpG binding protein 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGA... | CAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGA... | benign | 341,485 |
Variant at chromosome position 154097618, chromosome X, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGA... | CAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGA... | benign | 341,486 |
The genetic variant at chromosome X, position 154097618, affecting gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease name(s) if pathogenic? | benign | CAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGA... | CAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGA... | benign | 341,487 |
Does the variant on chromosome X at location 154097642 affecting gene MECP2 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAA... | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAA... | benign | 341,488 |
The genetic variant at chromosome X, position 154097642, affecting gene MECP2: benign or pathogenic? Disease name(s) if pathogenic? | benign | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAA... | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAA... | benign | 341,489 |
Considering the variant on chromosome X, location 154097642, involving gene MECP2, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAA... | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAA... | benign | 341,490 |
Clinical significance of chromosome X, position 154097642, gene MECP2: benign or pathogenic? Name the disease(s) if pathogenic. | benign | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAA... | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAA... | benign | 341,491 |
Mutation found at chromosome X position 154097642, gene MECP2: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAA... | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAA... | benign | 341,492 |
Variant at chromosome X, position 154097642, gene MECP2: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAA... | GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAA... | benign | 341,493 |
Variant on chromosome X, at position 154097690, affecting MECP2: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATG... | CTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATG... | benign | 341,498 |
Chromosome X, position 154348850, gene FLNA: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Frontometaphyseal_dysplasia', 'Heterotopia,_periventricular,_X-linked_dominant', 'Melnick-Needles_syndrome', 'Oto-palato-digital_syndrome,_type_II'] | CCGGTGCCCTTGGTTCACCTAGCCCAGCCCTAGGGCGGTGGCCCTGCCAGGCATGGGGCTTGAGAGGGGATGTGATGGAGCAGACACAGGGAGGGGGCAGGAGACCCTGGGTGACTCGGGACAGGAGGGAGTGCCCCAGAGGTTCAGAATCCTGGGCACACAGTGGGCTGAGCGGACAAGTCGCAGCCTCAGGGGGACCTCCCGTCCTCCCAACTGGCACTGCATCTTTCTGGGCCTGGCTCTGCTGCCTCACAGCCCCGTTCAGCTGGTGGCTTTTAGAGGCTTCCAGAGTGTGCTTGGCCCCTTTACCTCTATGCCAT... | CCGGTGCCCTTGGTTCACCTAGCCCAGCCCTAGGGCGGTGGCCCTGCCAGGCATGGGGCTTGAGAGGGGATGTGATGGAGCAGACACAGGGAGGGGGCAGGAGACCCTGGGTGACTCGGGACAGGAGGGAGTGCCCCAGAGGTTCAGAATCCTGGGCACACAGTGGGCTGAGCGGACAAGTCGCAGCCTCAGGGGGACCTCCCGTCCTCCCAACTGGCACTGCATCTTTCTGGGCCTGGCTCTGCTGCCTCACAGCCCCGTTCAGCTGGTGGCTTTTAGAGGCTTCCAGAGTGTGCTTGGCCCCTTTACCTCTATGCCAT... | pathogenic | 341,508 |
Clinical significance of chromosome X, position 154349013, gene FLNA: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Frontometaphyseal_dysplasia', 'Heterotopia,_periventricular,_X-linked_dominant', 'Melnick-Needles_syndrome', 'Oto-palato-digital_syndrome,_type_II'] | TGGGCTGAGCGGACAAGTCGCAGCCTCAGGGGGACCTCCCGTCCTCCCAACTGGCACTGCATCTTTCTGGGCCTGGCTCTGCTGCCTCACAGCCCCGTTCAGCTGGTGGCTTTTAGAGGCTTCCAGAGTGTGCTTGGCCCCTTTACCTCTATGCCATTGGGCCCAGGGGGAGCAGTAGAGTGGCTGCGGCTGGGGGTGGGACTTCCCCTTTCTGTGTCTTGCTTGCCCCGTGTCTCCCAGTGAGTGGCCGCCCTGAGCCTGGGGCCAGCAGCCCAGCCCCAGTGAGAAATAAAAGTAGCCATCCTGCCTGAACTGCCGCT... | TGGGCTGAGCGGACAAGTCGCAGCCTCAGGGGGACCTCCCGTCCTCCCAACTGGCACTGCATCTTTCTGGGCCTGGCTCTGCTGCCTCACAGCCCCGTTCAGCTGGTGGCTTTTAGAGGCTTCCAGAGTGTGCTTGGCCCCTTTACCTCTATGCCATTGGGCCCAGGGGGAGCAGTAGAGTGGCTGCGGCTGGGGGTGGGACTTCCCCTTTCTGTGTCTTGCTTGCCCCGTGTCTCCCAGTGAGTGGCCGCCCTGAGCCTGGGGCCAGCAGCCCAGCCCCAGTGAGAAATAAAAGTAGCCATCCTGCCTGAACTGCCGCT... | pathogenic | 341,519 |
Determine if the mutation at chromosome X, position 154350871 in gene FLNA (filamin A) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GCTGCCGGCTGGCACGGGCCCCAGACTCAGGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTC... | GCTGCCGGCTGGCACGGGCCCCAGACTCAGGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTC... | benign | 341,579 |
Gene mutation in FLNA (filamin A) at chromosome X, position 154350893—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AGACTCAGGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACC... | AGACTCAGGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACC... | benign | 341,581 |
Clinically, how would you classify the variant at chromosome X, position 154352311, gene FLNA (filamin A): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Frontometaphyseal_dysplasia', 'Heterotopia,_periventricular,_X-linked_dominant', 'Melnick-Needles_syndrome', 'Oto-palato-digital_syndrome,_type_II'] | GGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGG... | GGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGG... | pathogenic | 341,616 |
The genetic variant at chromosome X, position 154352658, affecting gene FLNA (filamin A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Frontometaphyseal_dysplasia', 'Heterotopia,_periventricular,_X-linked_dominant', 'Melnick-Needles_syndrome', 'Oto-palato-digital_syndrome,_type_II'] | GCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACAT... | GCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACAT... | pathogenic | 341,628 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 154357635, gene FLNA (filamin A). What disease(s) is it linked to if pathogenic? | benign | AGAAGGCTCGCGGTGAAAAGCAGCCCGGTGCAGACAGGAGTGGGAGCGGGGAAGCGGGAGGCAGCGGGGTTAGCACCCGAGTAGCGCAGCGCAGCAGGCTTGGCAGAGCGGGGATAGCACCCAGGGAGACAGGGAACAGGAGGCCCAAGCTACAGCCACCACTGCTGGGTTGCGAGGGCAGAGCAGCTGAGCAGGCTCCAGGGCCCCAGAGTGCCCGAGGAAAGGGGAGAGACAGTGACGTTATGATCTGGGTCTCCGCCGTGGAGGCTTGGGGGGCTGTGGGCTGTGAGGCCTGGCAGTGAGAGTGCCCCCTGCAGCCT... | AGAAGGCTCGCGGTGAAAAGCAGCCCGGTGCAGACAGGAGTGGGAGCGGGGAAGCGGGAGGCAGCGGGGTTAGCACCCGAGTAGCGCAGCGCAGCAGGCTTGGCAGAGCGGGGATAGCACCCAGGGAGACAGGGAACAGGAGGCCCAAGCTACAGCCACCACTGCTGGGTTGCGAGGGCAGAGCAGCTGAGCAGGCTCCAGGGCCCCAGAGTGCCCGAGGAAAGGGGAGAGACAGTGACGTTATGATCTGGGTCTCCGCCGTGGAGGCTTGGGGGGCTGTGGGCTGTGAGGCCTGGCAGTGAGAGTGCCCCCTGCAGCCT... | benign | 341,762 |
Is the genetic change at chromosome X, position 154358180, within gene FLNA (filamin A) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiac_valvular_dysplasia,_X-linked'] | GCTTGGGCCCCAACCTCACAGGTACCCGACTGCCCCCACTTTCCCTGCCCGGCTCCCAGCCAACCGCAGGTCTCAGCCACTCCATCCTCAAAGTATGCCTCCTAATTTGGCTCTCACTGAAGCCCCGTGGCCGTCAAGCTTGCCAGAGAGCAACTTCAGCGCCCCCTTCCCCACCCCGGGCTCCCTGTCTCCATTCTGCAAACAGTAGCCAGGGAAACTGAGGTTACTGAGTCTTGCTCCCACCCTCAAAGCCCCCAAGGCCCTGCAATCAGTACTCCCCAGCCTCCCCCGCCCTGCGCACACACGCCTGTCACACACAC... | GCTTGGGCCCCAACCTCACAGGTACCCGACTGCCCCCACTTTCCCTGCCCGGCTCCCAGCCAACCGCAGGTCTCAGCCACTCCATCCTCAAAGTATGCCTCCTAATTTGGCTCTCACTGAAGCCCCGTGGCCGTCAAGCTTGCCAGAGAGCAACTTCAGCGCCCCCTTCCCCACCCCGGGCTCCCTGTCTCCATTCTGCAAACAGTAGCCAGGGAAACTGAGGTTACTGAGTCTTGCTCCCACCCTCAAAGCCCCCAAGGCCCTGCAATCAGTACTCCCCAGCCTCCCCCGCCCTGCGCACACACGCCTGTCACACACAC... | pathogenic | 341,763 |
Evaluate the clinical significance of the mutation at chromosome X, position 154359010 in gene FLNA (filamin A): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Heterotopia,_periventricular,_X-linked_dominant'] | GGGTGCCTCTCAGGATGCACCTCACCCCAAAGCTCTCAGCTGCAACCCGAGTTCTCAGATGGGGAAATAAAGGCCCAGAGAGGGGAAGAGCTGGAGCGGTCATGCTCAGCTCCGGAAGCCTCCCTGGGCCCTCGCCCTCCAGCCCACGGCCTCATCTTCTGCACCCCACCCAACTCTGTCCCTGCCTAGAGCTGCAGCTGGAACTGTCCTGGGAATCGGCCCCAAGAGGAAAGGAAGCTGCCCCTCTGGGCAGGAGGGGCATTGGGAGTGGCCCCAGCAAGCAGCTTACCTAGCCCGTGACCTCCGATTGACACTGAGGT... | GGGTGCCTCTCAGGATGCACCTCACCCCAAAGCTCTCAGCTGCAACCCGAGTTCTCAGATGGGGAAATAAAGGCCCAGAGAGGGGAAGAGCTGGAGCGGTCATGCTCAGCTCCGGAAGCCTCCCTGGGCCCTCGCCCTCCAGCCCACGGCCTCATCTTCTGCACCCCACCCAACTCTGTCCCTGCCTAGAGCTGCAGCTGGAACTGTCCTGGGAATCGGCCCCAAGAGGAAAGGAAGCTGCCCCTCTGGGCAGGAGGGGCATTGGGAGTGGCCCCAGCAAGCAGCTTACCTAGCCCGTGACCTCCGATTGACACTGAGGT... | pathogenic | 341,799 |
Variant on chromosome X, at position 154359469, affecting FLNA (filamin A): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CGGGCGGGCTCACCTGTGACAGTGCACTTGCTGGCGTCCCCGGTGGGCACGGCACGCACGCGGTACGGGGAGAAGGGGATCTCGTCACCACCGTACTTGATGAGGATGGTGTAGCGACCTGTCACGTCTGGCACGTAGGCCACTGTATACGTGCCGTCATGGTTGTCTTGGATGTGTGTCTTCTTCGGCTTGCCTTCGGGATCCTGTGTGGCAGAGGCAGGGGAGGCAGTTGGCCCAAGCCCGAGTAGCCCCGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGC... | CGGGCGGGCTCACCTGTGACAGTGCACTTGCTGGCGTCCCCGGTGGGCACGGCACGCACGCGGTACGGGGAGAAGGGGATCTCGTCACCACCGTACTTGATGAGGATGGTGTAGCGACCTGTCACGTCTGGCACGTAGGCCACTGTATACGTGCCGTCATGGTTGTCTTGGATGTGTGTCTTCTTCGGCTTGCCTTCGGGATCCTGTGTGGCAGAGGCAGGGGAGGCAGTTGGCCCAAGCCCGAGTAGCCCCGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGC... | benign | 341,812 |
Mutation at chromosome X, position 154359720, within FLNA (filamin A): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAA... | CGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAA... | benign | 341,820 |
Does the variant on chromosome X at location 154361584 affecting gene FLNA (filamin A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGT... | CTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGT... | benign | 341,901 |
Clinically, how would you classify the variant at chromosome X, position 154361957, gene FLNA (filamin A): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTG... | CAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTG... | benign | 341,908 |
A genetic variant on chromosome X, position 154362344, affects the gene FLNA (filamin A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAG... | CTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAG... | benign | 341,926 |
Determine whether the variant at chromosome X, position 154364108, in gene FLNA (filamin A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Frontometaphyseal_dysplasia', 'Heterotopia,_periventricular,_X-linked_dominant', 'Melnick-Needles_syndrome', 'Oto-palato-digital_syndrome,_type_II'] | GGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATC... | GGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATC... | pathogenic | 341,961 |
Variant in FLNA (filamin A), chromosome X, position 154365501—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGTGCCAAGACATGCCAAA... | GCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGTGCCAAGACATGCCAAA... | benign | 342,026 |
Assess the variant on chromosome X, position 154366401, impacting FLNA (filamin A): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Frontometaphyseal_dysplasia', 'Heterotopia,_periventricular,_X-linked_dominant', 'Melnick-Needles_syndrome', 'Oto-palato-digital_syndrome,_type_II'] | CCAGGCCCACGTGCCTTCACCTAGCGGGAGACCACCCAGCTGTCAGGGGGCCAGGTCCAGGCTGCCAGAGCTACAACCCAGGCAGGGTGGCCAGGGACACAGAGTGCCATCCCCACCAGACCCCAAGCAGGAGCAGCAGGGCGAGACTTAGGCCATCACAGCCTGCTCTTTACCCTGTCTGGGTGGAAGTCCTGGGGCGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTT... | CCAGGCCCACGTGCCTTCACCTAGCGGGAGACCACCCAGCTGTCAGGGGGCCAGGTCCAGGCTGCCAGAGCTACAACCCAGGCAGGGTGGCCAGGGACACAGAGTGCCATCCCCACCAGACCCCAAGCAGGAGCAGCAGGGCGAGACTTAGGCCATCACAGCCTGCTCTTTACCCTGTCTGGGTGGAAGTCCTGGGGCGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTT... | pathogenic | 342,052 |
Mutation found at chromosome X position 154366598, gene FLNA (filamin A): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Periventricular_nodular_heterotopia'] | CGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTTGTCGTCACATTCGATCTTAGCCTGCGATGGCCCTTCCACCGAGAAGCCTGACAACAGCCACCAGTCCCCTCAGTGCCCTGGAGCCTCAGGGTGGGCCGTCCTTGCCATCGTCTGTCCCCAGGTGCCCATGCTGCAGCCTCCAACTTACCCAGCGTGCCCACGTCGTCCCCGATAGCCTCCACCACAAAGTCTGCTGA... | CGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTTGTCGTCACATTCGATCTTAGCCTGCGATGGCCCTTCCACCGAGAAGCCTGACAACAGCCACCAGTCCCCTCAGTGCCCTGGAGCCTCAGGGTGGGCCGTCCTTGCCATCGTCTGTCCCCAGGTGCCCATGCTGCAGCCTCCAACTTACCCAGCGTGCCCACGTCGTCCCCGATAGCCTCCACCACAAAGTCTGCTGA... | pathogenic | 342,067 |
Variant on chromosome X, at position 154371181, affecting FLNA (filamin A): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CATGGCAGCTGCTTCCCAGCCCAGCAGGCAGCACCTGGAGGGCCAGGTGAGCCGCTCAGAGTGGCCTCCCCAGTTCCCAGGTTGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGACTCGGAGAGGACCAAGGGTGCAGGGCCAGGGAACAAGGCCAGCCAGGGCTTCCCATCAGGCCCCCACCCCAGTCCAGCCTCAGACCCCTCAACGACCCCCACACGGGGAGCAACCAGGCCCACCAGGTCCATGTTAGGCCAGCCTACTCCGTCCCCATCCCCCTCCCAAAAGAGAGAGGG... | CATGGCAGCTGCTTCCCAGCCCAGCAGGCAGCACCTGGAGGGCCAGGTGAGCCGCTCAGAGTGGCCTCCCCAGTTCCCAGGTTGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGACTCGGAGAGGACCAAGGGTGCAGGGCCAGGGAACAAGGCCAGCCAGGGCTTCCCATCAGGCCCCCACCCCAGTCCAGCCTCAGACCCCTCAACGACCCCCACACGGGGAGCAACCAGGCCCACCAGGTCCATGTTAGGCCAGCCTACTCCGTCCCCATCCCCCTCCCAAAAGAGAGAGGG... | benign | 342,145 |
Classify the chromosome X variant at position 154371263 affecting gene FLNA (filamin A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGACTCGGAGAGGACCAAGGGTGCAGGGCCAGGGAACAAGGCCAGCCAGGGCTTCCCATCAGGCCCCCACCCCAGTCCAGCCTCAGACCCCTCAACGACCCCCACACGGGGAGCAACCAGGCCCACCAGGTCCATGTTAGGCCAGCCTACTCCGTCCCCATCCCCCTCCCAAAAGAGAGAGGGAAGGACCAGGGCCCAGGGCTGGGAGACTGTCTGGCTGGATGGCCCCGCCCCATCCCACCCCCCTTTCCCCAGCCCCTGGGCC... | TGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGACTCGGAGAGGACCAAGGGTGCAGGGCCAGGGAACAAGGCCAGCCAGGGCTTCCCATCAGGCCCCCACCCCAGTCCAGCCTCAGACCCCTCAACGACCCCCACACGGGGAGCAACCAGGCCCACCAGGTCCATGTTAGGCCAGCCTACTCCGTCCCCATCCCCCTCCCAAAAGAGAGAGGGAAGGACCAGGGCCCAGGGCTGGGAGACTGTCTGGCTGGATGGCCCCGCCCCATCCCACCCCCCTTTCCCCAGCCCCTGGGCC... | benign | 342,154 |
Is the genetic mutation found on chromosome X at position 154379314, within the gene EMD (emerin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GGATCTTTGCGTGTAGTCAAAACAGGGCCCCATCTCCTCATTACTCCCCCAGGTGTCTACCTCTTCCCACCCCATGGGCAAACCTCCATGGATGACTGGTCTGTGACCCTCACCAGCCAGGCCAGCCATTCTGGACATGACCAGAGCCCTCCCCTCTTCTTCCCTTGTCACCAGCCCTCAACTGTGAAACTACAGATGGCATGTCACCTCTTCATGCTCCCAGTTTGGGGCCTACCCAGTGAGGGGCACACTAGTTGATTCCATACACCCTCAGCTGGCTTTGTTTAGAATGTGAATGTCACAGCCAGGCGCGGTGGCTT... | GGATCTTTGCGTGTAGTCAAAACAGGGCCCCATCTCCTCATTACTCCCCCAGGTGTCTACCTCTTCCCACCCCATGGGCAAACCTCCATGGATGACTGGTCTGTGACCCTCACCAGCCAGGCCAGCCATTCTGGACATGACCAGAGCCCTCCCCTCTTCTTCCCTTGTCACCAGCCCTCAACTGTGAAACTACAGATGGCATGTCACCTCTTCATGCTCCCAGTTTGGGGCCTACCCAGTGAGGGGCACACTAGTTGATTCCATACACCCTCAGCTGGCTTTGTTTAGAATGTGAATGTCACAGCCAGGCGCGGTGGCTT... | benign | 342,157 |
Regarding the variant found on chromosome X at position 154379543 in gene EMD (emerin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Emery-Dreifuss_muscular_dystrophy_1,_X-linked', 'X-linked_Emery-Dreifuss_muscular_dystrophy'] | GCCTACCCAGTGAGGGGCACACTAGTTGATTCCATACACCCTCAGCTGGCTTTGTTTAGAATGTGAATGTCACAGCCAGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGACTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGC... | GCCTACCCAGTGAGGGGCACACTAGTTGATTCCATACACCCTCAGCTGGCTTTGTTTAGAATGTGAATGTCACAGCCAGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGACTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGC... | pathogenic | 342,163 |
Mutation at chromosome X, position 154379720, within EMD (emerin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Emery-Dreifuss_muscular_dystrophy_1,_X-linked', 'X-linked_Emery-Dreifuss_muscular_dystrophy'] | AAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCC... | AAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCC... | pathogenic | 342,167 |
Is the genetic variant on chromosome X, position 154379725, gene EMD (emerin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['X-linked_Emery-Dreifuss_muscular_dystrophy'] | CTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTG... | CTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTG... | pathogenic | 342,169 |
Does the genetic variant at chromosome X, position 154379740, impacting gene EMD (emerin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Emery-Dreifuss_muscular_dystrophy', 'X-linked_Emery-Dreifuss_muscular_dystrophy'] | ATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCG... | ATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCG... | pathogenic | 342,171 |
Chromosome X, position 154379754, gene EMD (emerin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'X-linked_Emery-Dreifuss_muscular_dystrophy'] | TACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTC... | TACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTC... | pathogenic | 342,172 |
For chromosome X, position 154380001, gene EMD (emerin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['EMD-related_disorder', 'Emery-Dreifuss_muscular_dystrophy_1,_X-linked', 'X-linked_Emery-Dreifuss_muscular_dystrophy'] | CTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAG... | CTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAG... | pathogenic | 342,184 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 154380194, gene EMD (emerin): what disease(s) if pathogenic? | benign | CACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCG... | CACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCG... | benign | 342,185 |
For chromosome X, position 154380739, gene EMD (emerin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTC... | CAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTC... | benign | 342,205 |
Gene EMD (emerin) variant at chromosome position 154381051 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['X-linked_Emery-Dreifuss_muscular_dystrophy'] | CCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCG... | CCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCG... | pathogenic | 342,231 |
Variant in EMD (emerin), chromosome X, position 154381071—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['X-linked_Emery-Dreifuss_muscular_dystrophy'] | AGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACG... | AGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACG... | pathogenic | 342,233 |
Variant in EMD (emerin), chromosome X, position 154381072—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Neuromuscular_disease', 'X-linked_Emery-Dreifuss_muscular_dystrophy'] | GACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGC... | GACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGC... | pathogenic | 342,234 |
Gene EMD (emerin) variant at chromosome position 154381105 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Emery-Dreifuss_muscular_dystrophy_1,_X-linked', 'X-linked_Emery-Dreifuss_muscular_dystrophy'] | CCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCG... | CCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCG... | pathogenic | 342,236 |
Variant on chromosome X, at position 154412119, affecting TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['3-Methylglutaconic_aciduria_type_2', 'Cardiovascular_phenotype'] | CTACTAAAAATACAAAAAATTAGCCCGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAGCCTGGAAGGCGGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCGCACTCCAGCCCGGGCGACAGTGCGAGACTCCATCTCAAAAAAAAAAATCAATAAATTATGGTTTAAAAATAAAAAACAGGCCAGGTAGGATGACTCACACTTTGGGAGGAGAGGCAGACAGATCACCTGAGGCCGGGAGTTCGAGACCAGCTTGACCAACATGAAGAAACCCAGCCTCTACT... | CTACTAAAAATACAAAAAATTAGCCCGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAGCCTGGAAGGCGGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCGCACTCCAGCCCGGGCGACAGTGCGAGACTCCATCTCAAAAAAAAAAATCAATAAATTATGGTTTAAAAATAAAAAACAGGCCAGGTAGGATGACTCACACTTTGGGAGGAGAGGCAGACAGATCACCTGAGGCCGGGAGTTCGAGACCAGCTTGACCAACATGAAGAAACCCAGCCTCTACT... | pathogenic | 342,257 |
Variant on chromosome X, at position 154413199, affecting TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ATTGTATATGTGGCTGGGCGGGGTGGCTCACGGCTGTCATCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCAGAGTGTGATGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGTCTGGGAGATCGAGGCTGCAGTGAGCCATGATCCCATCACTGCACTCCAGCCTGGGTCTGGCTGGACCCTGTGTCAAACAAAAAACAGAAACACTAGAGAGACAAAAGGCGAGCGCAGGAGGCTGCCAGGAAGCGGGAGCCCCACGGGGTGACGGCCACTTCCCGCCGCCCCGGGGCTGGC... | ATTGTATATGTGGCTGGGCGGGGTGGCTCACGGCTGTCATCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCAGAGTGTGATGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGTCTGGGAGATCGAGGCTGCAGTGAGCCATGATCCCATCACTGCACTCCAGCCTGGGTCTGGCTGGACCCTGTGTCAAACAAAAAACAGAAACACTAGAGAGACAAAAGGCGAGCGCAGGAGGCTGCCAGGAAGCGGGAGCCCCACGGGGTGACGGCCACTTCCCGCCGCCCCGGGGCTGGC... | benign | 342,267 |
Clinical classification of chromosome X, position 154419595, gene TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['3-Methylglutaconic_aciduria_type_2'] | AGGAGGGGTTTATTATTTCTAGCTGGTCAAAGTAGAATGTGGTAAAACCCAATAAAGTAACAGCAAATAACAAAGAGGGGCTTTTAATGGAAAGCTGCAGTGCCTGCCCCTCACCTCCCTAGCCCCACTCCTCAGAAGCAGCCCCCTGGAGCGGTTTCTCTTTCTGCTGCTTTTGGAGGCTACTTCTGTCTCTGTAAAGGAACTTCTGTCTCTGTAAAGGAACAAGCAGAGGCCACAGTGTCTTGGCAAATGACCGTGGCATTGTTTATCCCAACCTGCTCTGAGAGATGGGGACTCTGCTGATTCACCCCTCGTCCCTG... | AGGAGGGGTTTATTATTTCTAGCTGGTCAAAGTAGAATGTGGTAAAACCCAATAAAGTAACAGCAAATAACAAAGAGGGGCTTTTAATGGAAAGCTGCAGTGCCTGCCCCTCACCTCCCTAGCCCCACTCCTCAGAAGCAGCCCCCTGGAGCGGTTTCTCTTTCTGCTGCTTTTGGAGGCTACTTCTGTCTCTGTAAAGGAACTTCTGTCTCTGTAAAGGAACAAGCAGAGGCCACAGTGTCTTGGCAAATGACCGTGGCATTGTTTATCCCAACCTGCTCTGAGAGATGGGGACTCTGCTGATTCACCCCTCGTCCCTG... | pathogenic | 342,284 |
Assess the variant on chromosome X, position 154420024, impacting TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GATTTTAATATGGTATTTAAGTATCAAAGTGATTTGACACAAGTGACACAAGTGAGCAGTAGTAGCATTTGCAAAAGCTACAAATGATGAAGTCTTGCTCCAAAAGCATATTATTATTATTTTTTAAATTCCAGTTTCAAGCTCAATGGATAGGTTGCGTCAGTGGGTTTTAGTAGAGAAGGGGCCAGTACCTATGAAGACTCCCCTGTACTATTACACATGCTGCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATT... | GATTTTAATATGGTATTTAAGTATCAAAGTGATTTGACACAAGTGACACAAGTGAGCAGTAGTAGCATTTGCAAAAGCTACAAATGATGAAGTCTTGCTCCAAAAGCATATTATTATTATTTTTTAAATTCCAGTTTCAAGCTCAATGGATAGGTTGCGTCAGTGGGTTTTAGTAGAGAAGGGGCCAGTACCTATGAAGACTCCCCTGTACTATTACACATGCTGCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATT... | benign | 342,292 |
Is chromosome X, position 154420248, gene TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['3-Methylglutaconic_aciduria_type_2', 'Cardiomyopathy'] | GCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATTCCTGGATCCCTAACTAGCACCTTCCAAAGAATCGGCCTTGCAGAGAACAAAGTTCATTGCCAAAGGTATTCCCAATGTCTGTCTCTCGCTCTGTGATAGGGCTTCTTTACTCCCCACTTTATAAGATGAGGATATCTGCTATACCCCATTCCTTCAACCTCTCCACCTCTTTCCTCTTTTGTCTGCCATGTGATTACTTTTCCATCACCAAGGTTGATGAGATC... | GCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATTCCTGGATCCCTAACTAGCACCTTCCAAAGAATCGGCCTTGCAGAGAACAAAGTTCATTGCCAAAGGTATTCCCAATGTCTGTCTCTCGCTCTGTGATAGGGCTTCTTTACTCCCCACTTTATAAGATGAGGATATCTGCTATACCCCATTCCTTCAACCTCTCCACCTCTTTCCTCTTTTGTCTGCCATGTGATTACTTTTCCATCACCAAGGTTGATGAGATC... | pathogenic | 342,306 |
Is chromosome X, position 154420822, gene TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGGTTGGAAATCACAAATGCACTTGGTTTCTCTAGCAGCTGGCACATAGTAGGATCAGCCCAGGAGTGGCACCTTCAAAGAGAAAGGAACGCATGAGGCTCCGAGAGCGGTCGGCTGGCAGCCAGGGCCTGGCTGGGGAGGGAGGGCAG... | CCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGGTTGGAAATCACAAATGCACTTGGTTTCTCTAGCAGCTGGCACATAGTAGGATCAGCCCAGGAGTGGCACCTTCAAAGAGAAAGGAACGCATGAGGCTCCGAGAGCGGTCGGCTGGCAGCCAGGGCCTGGCTGGGGAGGGAGGGCAG... | benign | 342,314 |
Evaluate this variant at chromosome X, position 154428787, gene ATP6AP1 (ATPase H+ transporting accessory protein 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTTGCTAGGCTGGTCTCAAACTCTTGACCTCAGGTTATCTGCCCGCCTCAGCCTCCCAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGGATTTCAATGAACAAAATGCTTTTACCCTAAAGATGAAGTCCCCAGACAGAAGGTGCTCATTGGTGCTGTCAACATTTGGTGATTGGTTCAGTTTAGATATCACCTCCTGGTGGGAGCAGCTTCATCGGTGCCCCTCTCCTTACATCCCTCCCAGTCCCATGTCTCAACCTTTGGA... | CGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTTGCTAGGCTGGTCTCAAACTCTTGACCTCAGGTTATCTGCCCGCCTCAGCCTCCCAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGGATTTCAATGAACAAAATGCTTTTACCCTAAAGATGAAGTCCCCAGACAGAAGGTGCTCATTGGTGCTGTCAACATTTGGTGATTGGTTCAGTTTAGATATCACCTCCTGGTGGGAGCAGCTTCATCGGTGCCCCTCTCCTTACATCCCTCCCAGTCCCATGTCTCAACCTTTGGA... | benign | 342,320 |
Variant chromosome X, position 154428787, gene ATP6AP1 (ATPase H+ transporting accessory protein 1): benign or pathogenic? Disease(s)? | benign | CGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTTGCTAGGCTGGTCTCAAACTCTTGACCTCAGGTTATCTGCCCGCCTCAGCCTCCCAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGGATTTCAATGAACAAAATGCTTTTACCCTAAAGATGAAGTCCCCAGACAGAAGGTGCTCATTGGTGCTGTCAACATTTGGTGATTGGTTCAGTTTAGATATCACCTCCTGGTGGGAGCAGCTTCATCGGTGCCCCTCTCCTTACATCCCTCCCAGTCCCATGTCTCAACCTTTGGA... | CGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTTGCTAGGCTGGTCTCAAACTCTTGACCTCAGGTTATCTGCCCGCCTCAGCCTCCCAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGGATTTCAATGAACAAAATGCTTTTACCCTAAAGATGAAGTCCCCAGACAGAAGGTGCTCATTGGTGCTGTCAACATTTGGTGATTGGTTCAGTTTAGATATCACCTCCTGGTGGGAGCAGCTTCATCGGTGCCCCTCTCCTTACATCCCTCCCAGTCCCATGTCTCAACCTTTGGA... | benign | 342,321 |
Gene mutation in G6PD (glucose-6-phosphate dehydrogenase) at chromosome X, position 154532268—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency'] | TGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGG... | TGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGG... | pathogenic | 342,381 |
Mutation at chromosome X, position 154533012, within G6PD (glucose-6-phosphate dehydrogenase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency', 'Malaria,_susceptibility_to'] | GCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACC... | GCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACC... | pathogenic | 342,412 |
Chromosome X, position 154533567, gene G6PD (glucose-6-phosphate dehydrogenase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GACAGGGGACATCCAGGGGGCTCGAGATGTTGCTGGTGACAAGGAATGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGC... | GACAGGGGACATCCAGGGGGCTCGAGATGTTGCTGGTGACAAGGAATGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGC... | benign | 342,419 |
A genetic variant at chromosome X, position 154534164, affecting gene G6PD (glucose-6-phosphate dehydrogenase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCG... | GCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCG... | benign | 342,431 |
Does the variant impacting IKBKG on chromosome X, position 154545836, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GGTTCAAGCGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGATGGGTGCCACTACACCTAACTAATTTTTGTTATTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGTTGCGATTTCTGCTCACTGCAAGCTCCGCCTCCCGAGTTCACGCCTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGACTACAGGTGCCCACACCAGGCCTGGCTAATTTTTTATTTAGTAGAGACGGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCACCC... | GGTTCAAGCGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGATGGGTGCCACTACACCTAACTAATTTTTGTTATTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGTTGCGATTTCTGCTCACTGCAAGCTCCGCCTCCCGAGTTCACGCCTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGACTACAGGTGCCCACACCAGGCCTGGCTAATTTTTTATTTAGTAGAGACGGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCACCC... | benign | 342,467 |
Chromosome X, position 154560403, gene IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Incontinentia_pigmenti_syndrome'] | GGCCCTTGGGCTCATGAGGCCCTAGGGCACCCAGGTTTGGGGGTGCCGAGGGCAGGAAAAAAGGCCTCATGGCGCGCAGGCCTCAGCCGCTTGCGGGTTGCCCCGGGCTTGCGGATGGCAGGAGTGGGCCGCTGGGGAGAAAGCAGTGCTGACAGGAAGTGGCTTTTTATCCTGCAGCAGATGGCTGAGGACAAGGCCTCTGTGAAAGCCCAGGTGACGTCCTTGCTCGGGGAGCTGCAGGAGAGCCAGAGTCGCTTGGAGGCTGCCACTAAGGAATGCCAGGCTCTGGAGGGTCGGTGAGTCGGGGGAGCCGGCTCCGG... | GGCCCTTGGGCTCATGAGGCCCTAGGGCACCCAGGTTTGGGGGTGCCGAGGGCAGGAAAAAAGGCCTCATGGCGCGCAGGCCTCAGCCGCTTGCGGGTTGCCCCGGGCTTGCGGATGGCAGGAGTGGGCCGCTGGGGAGAAAGCAGTGCTGACAGGAAGTGGCTTTTTATCCTGCAGCAGATGGCTGAGGACAAGGCCTCTGTGAAAGCCCAGGTGACGTCCTTGCTCGGGGAGCTGCAGGAGAGCCAGAGTCGCTTGGAGGCTGCCACTAAGGAATGCCAGGCTCTGGAGGGTCGGTGAGTCGGGGGAGCCGGCTCCGG... | pathogenic | 342,473 |
Does the variant on chromosome X at location 154564361 affecting gene IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Ectodermal_dysplasia_and_immunodeficiency_1', 'Immunodeficiency_33', 'Incontinentia_pigmenti_syndrome'] | CTCTGGAGGGGGGCGTTGGTGGGGTGTGTCTGTGTGTGTCTCAGGGGGCTGGAGATGCCTGCGTGGGAGGAGTGCACCTCTGACCAGGTGGCAGAGTGGAAGGACTGAGGGCTCTCAGCTGAGCTGTGCACATGGCGGGCACAGGACCGGCTGGCTGTGAGTGGGTGTGGCCTGTGGCCTGTGAAGGGTGGGAGGAGGGCTGTGGAGCTGGGGATTCTGGGAAGGGAATGTCGGCCCAGCTGGGAGGTTGTACCAGATGACCTCAGCGGCCTCTTCAGTCCTGAAAAAAACCTCAGCATCTCCTCTGTCGTTTTGGGCCG... | CTCTGGAGGGGGGCGTTGGTGGGGTGTGTCTGTGTGTGTCTCAGGGGGCTGGAGATGCCTGCGTGGGAGGAGTGCACCTCTGACCAGGTGGCAGAGTGGAAGGACTGAGGGCTCTCAGCTGAGCTGTGCACATGGCGGGCACAGGACCGGCTGGCTGTGAGTGGGTGTGGCCTGTGGCCTGTGAAGGGTGGGAGGAGGGCTGTGGAGCTGGGGATTCTGGGAAGGGAATGTCGGCCCAGCTGGGAGGTTGTACCAGATGACCTCAGCGGCCTCTTCAGTCCTGAAAAAAACCTCAGCATCTCCTCTGTCGTTTTGGGCCG... | pathogenic | 342,476 |
Does the chromosome X mutation at position 154765540 within gene DKC1 (dyskerin pseudouridine synthase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GCGCTTCTGTGGGATGTTTAAGCTCTGCCATAGCCACGTGGTGAACCGGAAGGGAAGCCGACACGTGCAGTAGCCTACAGTCAGTTACCCAGCCATGGGACCCATACATTTGGCCTTACACACCTTGTTTTCTCGCTTACCTACGGATATACGTTCTAAGAAATGGGTCGTTAGGCGATTTCATCATTGTGTGAACATCAGAGGGCTCTTACACAAACCTAGGTGGCATAGGCTACTACACACCTAGGCTGTATATGGTGTAGCGTATGGCTCCTAGGCTTCAAACCTGGACAGCATGGTATTGTGCGGAATGCTGTAGG... | GCGCTTCTGTGGGATGTTTAAGCTCTGCCATAGCCACGTGGTGAACCGGAAGGGAAGCCGACACGTGCAGTAGCCTACAGTCAGTTACCCAGCCATGGGACCCATACATTTGGCCTTACACACCTTGTTTTCTCGCTTACCTACGGATATACGTTCTAAGAAATGGGTCGTTAGGCGATTTCATCATTGTGTGAACATCAGAGGGCTCTTACACAAACCTAGGTGGCATAGGCTACTACACACCTAGGCTGTATATGGTGTAGCGTATGGCTCCTAGGCTTCAAACCTGGACAGCATGGTATTGTGCGGAATGCTGTAGG... | benign | 342,487 |
Variant at chromosome position 154776255, chromosome X, gene DKC1 (dyskerin pseudouridine synthase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TCTGTCACCTGGAGTGTCCACAGTGGTCAAGGAGTCTGGTCAAGGGATTGTCTGTTAAGCCACACCGGTGTGAAGAGTGGGTTAGGTGTTGGTGAAGTGAAGAGGGGAGGGGAGAGTTCAGGGCATTGGGAGCAAGCAGCATGTGCAAAGGCAAAAAAGTAGAGTGGCTGCGGTGGGGACGTTATGTCTGCAGAGGCTCTCACTAATAAGCTTTGTGATCTTCAACAAGTCCTGTGTGTGTTGGAGTTAGTGGGCAAATTCTGAATGCTCTGGAGAGGAGTTTGAGGCCCTGCTGAGAATACACCAGGGAGGAACCTTGT... | TCTGTCACCTGGAGTGTCCACAGTGGTCAAGGAGTCTGGTCAAGGGATTGTCTGTTAAGCCACACCGGTGTGAAGAGTGGGTTAGGTGTTGGTGAAGTGAAGAGGGGAGGGGAGAGTTCAGGGCATTGGGAGCAAGCAGCATGTGCAAAGGCAAAAAAGTAGAGTGGCTGCGGTGGGGACGTTATGTCTGCAGAGGCTCTCACTAATAAGCTTTGTGATCTTCAACAAGTCCTGTGTGTGTTGGAGTTAGTGGGCAAATTCTGAATGCTCTGGAGAGGAGTTTGAGGCCCTGCTGAGAATACACCAGGGAGGAACCTTGT... | benign | 342,518 |
Variant at chromosome X, position 154776813, gene DKC1 (dyskerin pseudouridine synthase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GCAGGAGTATGTCAACAACAGGTGAGGATGGGAAGGTAGAGCCCACTTGCCATCTGGACGCAGGAGTACATGGACAACAGGTGAGGAACAGGTGAGCATGGAGGTTGTAGAGCCCAGGGGAGGGGGAGTCACTTGGTTTGGGGCAAACTTGCTAAATGCAGGACCACAGGAACCAGCTCTTCAGCTCCCGTGAGATTTTGGCTGCCCAGGCCAGTTAGGGGTGTGGGCCTGCACGGCAGACAGTTATCCCTTTCTAGTCTGGCTCGTGGGACTCTAGAGGGAGTCAGTCTGCAACAGTAAGTGGTGAGTTCTTCTGTCCA... | GCAGGAGTATGTCAACAACAGGTGAGGATGGGAAGGTAGAGCCCACTTGCCATCTGGACGCAGGAGTACATGGACAACAGGTGAGGAACAGGTGAGCATGGAGGTTGTAGAGCCCAGGGGAGGGGGAGTCACTTGGTTTGGGGCAAACTTGCTAAATGCAGGACCACAGGAACCAGCTCTTCAGCTCCCGTGAGATTTTGGCTGCCCAGGCCAGTTAGGGGTGTGGGCCTGCACGGCAGACAGTTATCCCTTTCTAGTCTGGCTCGTGGGACTCTAGAGGGAGTCAGTCTGCAACAGTAAGTGGTGAGTTCTTCTGTCCA... | benign | 342,521 |
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