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 |
|---|---|---|---|---|---|
Variant on chromosome 11, at position 77202397, affecting MYO7A (myosin VIIA): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome', 'Usher_syndrome_type_1'] | CACTCATGGCAGAAGGAGAAGGGGTGCCTGCATCAGAAGGAAGGAAGAGAGCAGGGGGTGCCAGGCTCTTTTTAAACAATCAGTTCTCACAGAGACTATATAGAGTGAGAACTCACTCATTACCGTGAGCACGGCACCACACTGTTCATGAGGGACCCACTCCCATGACCCAAACACCTCACACTAGGCCACTGCCAACACTGGGAGATCAAGTTTCAACAGAGAGATTTGGAGGGGACAAATATCTAAACCATATCACAGACCATGCCCCGTGGCCTTGGCCTTGGCACTCAAGGCTGCTAGGATCTTGTTCCCATCTT... | CACTCATGGCAGAAGGAGAAGGGGTGCCTGCATCAGAAGGAAGGAAGAGAGCAGGGGGTGCCAGGCTCTTTTTAAACAATCAGTTCTCACAGAGACTATATAGAGTGAGAACTCACTCATTACCGTGAGCACGGCACCACACTGTTCATGAGGGACCCACTCCCATGACCCAAACACCTCACACTAGGCCACTGCCAACACTGGGAGATCAAGTTTCAACAGAGAGATTTGGAGGGGACAAATATCTAAACCATATCACAGACCATGCCCCGTGGCCTTGGCCTTGGCACTCAAGGCTGCTAGGATCTTGTTCCCATCTT... | pathogenic | 181,334 |
A genetic variant on chromosome 11, position 77203097, affects the gene MYO7A (myosin VIIA). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Rare_genetic_deafness', 'Retinal_dystrophy', 'Usher_syndrome_type_1'] | AGCCCGTGTGACCAGAGCACAGGGGGCAGAGAGCTAAGCGTGATGCCAGCACAGAGGCGGGAGAAAGCTGGCCTGTCCAGGGAACTGCGAACAGCTTGGTTTGGCTGGGAACAGGCACAGTGAGGGAGGAGAGGCGAGGTGGAAGGAGTCTGGGAGGCCCGCTCACAACAGGCCCAGGAGTGTGGGGCTTCCTCCCAAGGGCAATGAGGAGCCGTGGAAGGCTTTTGAGCAGGAGAGTAGCCCACTCTGGTGATGGTCTCTGTATGGAGAGTTGTGACAAGGTGGAGGCAGAGTGGCAAGTGGGCAGACATGAGTGATAA... | AGCCCGTGTGACCAGAGCACAGGGGGCAGAGAGCTAAGCGTGATGCCAGCACAGAGGCGGGAGAAAGCTGGCCTGTCCAGGGAACTGCGAACAGCTTGGTTTGGCTGGGAACAGGCACAGTGAGGGAGGAGAGGCGAGGTGGAAGGAGTCTGGGAGGCCCGCTCACAACAGGCCCAGGAGTGTGGGGCTTCCTCCCAAGGGCAATGAGGAGCCGTGGAAGGCTTTTGAGCAGGAGAGTAGCCCACTCTGGTGATGGTCTCTGTATGGAGAGTTGTGACAAGGTGGAGGCAGAGTGGCAAGTGGGCAGACATGAGTGATAA... | pathogenic | 181,339 |
The mutation in gene MYO7A (myosin VIIA) at chromosome 11, position 77203149—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | AGAGGCGGGAGAAAGCTGGCCTGTCCAGGGAACTGCGAACAGCTTGGTTTGGCTGGGAACAGGCACAGTGAGGGAGGAGAGGCGAGGTGGAAGGAGTCTGGGAGGCCCGCTCACAACAGGCCCAGGAGTGTGGGGCTTCCTCCCAAGGGCAATGAGGAGCCGTGGAAGGCTTTTGAGCAGGAGAGTAGCCCACTCTGGTGATGGTCTCTGTATGGAGAGTTGTGACAAGGTGGAGGCAGAGTGGCAAGTGGGCAGACATGAGTGATAACACCTCAGTTCTTCTGTGGGAAGATGTTCCAACTCAGCCTGTCTCTGCCCCC... | AGAGGCGGGAGAAAGCTGGCCTGTCCAGGGAACTGCGAACAGCTTGGTTTGGCTGGGAACAGGCACAGTGAGGGAGGAGAGGCGAGGTGGAAGGAGTCTGGGAGGCCCGCTCACAACAGGCCCAGGAGTGTGGGGCTTCCTCCCAAGGGCAATGAGGAGCCGTGGAAGGCTTTTGAGCAGGAGAGTAGCCCACTCTGGTGATGGTCTCTGTATGGAGAGTTGTGACAAGGTGGAGGCAGAGTGGCAAGTGGGCAGACATGAGTGATAACACCTCAGTTCTTCTGTGGGAAGATGTTCCAACTCAGCCTGTCTCTGCCCCC... | pathogenic | 181,342 |
For chromosome 11, position 77204167, gene MYO7A (myosin VIIA): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic | AGGAGGCAGCAGGGACCTCAGAGACCCCAAGGAGGAACGGGGCTCCCAGGGTCAGAATGGGGCATGGGGTCCATACCCCTGAAGAGTCTCCCAGAGTCCAGAAGGCTTCAGGGTATACCATGTTGATCCTGGTGGCCACAGGTAGAGAGCTGACCTGAGCCCCCTGTCTCTTGGTCCCTAGGCCCTGGTCACCATGACTCCCGATCAGAGGCAGGACGTTGTCCGGCTCTTGCAGCTGCGAACGGCGGAGCCCGAGGTGCGTGCCAAGCCCTACACGCTGGAGGAGTTTTCCTATGACTACTTCAGGTGATGCCTCCTGG... | AGGAGGCAGCAGGGACCTCAGAGACCCCAAGGAGGAACGGGGCTCCCAGGGTCAGAATGGGGCATGGGGTCCATACCCCTGAAGAGTCTCCCAGAGTCCAGAAGGCTTCAGGGTATACCATGTTGATCCTGGTGGCCACAGGTAGAGAGCTGACCTGAGCCCCCTGTCTCTTGGTCCCTAGGCCCTGGTCACCATGACTCCCGATCAGAGGCAGGACGTTGTCCGGCTCTTGCAGCTGCGAACGGCGGAGCCCGAGGTGCGTGCCAAGCCCTACACGCTGGAGGAGTTTTCCTATGACTACTTCAGGTGATGCCTCCTGG... | pathogenic | 181,353 |
A genetic alteration at chromosome 11, position 77205468, in gene MYO7A (myosin VIIA)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'MYO7A-related_disorder', 'Usher_syndrome_type_1'] | TGGATTTGGTGCCTTGTGCTGGGCCAGGCATGCAGGTAGAGCAGGGACCAGCCCAGCCCCTGGCCTCATGGGACCATACACACATCCAGATCAATGTTGAGATGGGACCCGGCAGCACTGTGACCTGACCCATGTGACCTGGAGGGGGCAGAGAGGACTTCCTGGAGGAAGTGGTATCTAGGCTGAGCCCTGAAGGCTAAGTACGACTTAGCCAGGCAAAGGGGAGGGAGGGGGAGTGTTCCAGAGAGAGGGAGCAGCAGCAAGGCCCCGAGGCACACAGAGCAGGGCTGTTCCAGGGCTCCGGGGCTTCAGCACAGACA... | TGGATTTGGTGCCTTGTGCTGGGCCAGGCATGCAGGTAGAGCAGGGACCAGCCCAGCCCCTGGCCTCATGGGACCATACACACATCCAGATCAATGTTGAGATGGGACCCGGCAGCACTGTGACCTGACCCATGTGACCTGGAGGGGGCAGAGAGGACTTCCTGGAGGAAGTGGTATCTAGGCTGAGCCCTGAAGGCTAAGTACGACTTAGCCAGGCAAAGGGGAGGGAGGGGGAGTGTTCCAGAGAGAGGGAGCAGCAGCAAGGCCCCGAGGCACACAGAGCAGGGCTGTTCCAGGGCTCCGGGGCTTCAGCACAGACA... | pathogenic | 181,363 |
Clinical significance of chromosome 11, position 77205522, gene MYO7A (myosin VIIA): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | AGCCCCTGGCCTCATGGGACCATACACACATCCAGATCAATGTTGAGATGGGACCCGGCAGCACTGTGACCTGACCCATGTGACCTGGAGGGGGCAGAGAGGACTTCCTGGAGGAAGTGGTATCTAGGCTGAGCCCTGAAGGCTAAGTACGACTTAGCCAGGCAAAGGGGAGGGAGGGGGAGTGTTCCAGAGAGAGGGAGCAGCAGCAAGGCCCCGAGGCACACAGAGCAGGGCTGTTCCAGGGCTCCGGGGCTTCAGCACAGACAGGATGGGAAGACTGGGCTTAGGCAGGGTTCCCAAGCCCTGTGAGGAAGCTTGGG... | AGCCCCTGGCCTCATGGGACCATACACACATCCAGATCAATGTTGAGATGGGACCCGGCAGCACTGTGACCTGACCCATGTGACCTGGAGGGGGCAGAGAGGACTTCCTGGAGGAAGTGGTATCTAGGCTGAGCCCTGAAGGCTAAGTACGACTTAGCCAGGCAAAGGGGAGGGAGGGGGAGTGTTCCAGAGAGAGGGAGCAGCAGCAAGGCCCCGAGGCACACAGAGCAGGGCTGTTCCAGGGCTCCGGGGCTTCAGCACAGACAGGATGGGAAGACTGGGCTTAGGCAGGGTTCCCAAGCCCTGTGAGGAAGCTTGGG... | pathogenic | 181,367 |
Is the genetic mutation found on chromosome 11 at position 77205610, within the gene MYO7A (myosin VIIA), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | AGGGGGCAGAGAGGACTTCCTGGAGGAAGTGGTATCTAGGCTGAGCCCTGAAGGCTAAGTACGACTTAGCCAGGCAAAGGGGAGGGAGGGGGAGTGTTCCAGAGAGAGGGAGCAGCAGCAAGGCCCCGAGGCACACAGAGCAGGGCTGTTCCAGGGCTCCGGGGCTTCAGCACAGACAGGATGGGAAGACTGGGCTTAGGCAGGGTTCCCAAGCCCTGTGAGGAAGCTTGGGCCGTGTCCTAAGGCCAGGGTGAACCACTGGGCAGGGGGTGGCATGGTCAGATTCACCATCTGGGAAGTCCATCCCAGCTGCTGTGAGG... | AGGGGGCAGAGAGGACTTCCTGGAGGAAGTGGTATCTAGGCTGAGCCCTGAAGGCTAAGTACGACTTAGCCAGGCAAAGGGGAGGGAGGGGGAGTGTTCCAGAGAGAGGGAGCAGCAGCAAGGCCCCGAGGCACACAGAGCAGGGCTGTTCCAGGGCTCCGGGGCTTCAGCACAGACAGGATGGGAAGACTGGGCTTAGGCAGGGTTCCCAAGCCCTGTGAGGAAGCTTGGGCCGTGTCCTAAGGCCAGGGTGAACCACTGGGCAGGGGGTGGCATGGTCAGATTCACCATCTGGGAAGTCCATCCCAGCTGCTGTGAGG... | pathogenic | 181,375 |
Clinically, how would you classify the variant at chromosome 11, position 77207381, gene MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic | AAGGTCAGGAGGGACGGTGCTGCTGTGATGAGCAGCTGAGGGGTACATGGCCCCCTCACCCGGGGGTGCACAGGTCCTGTGACTCCCGATGGCAGCTGCCCCTGCTGGAGCCCACGCCTCCTCCTGCAGGTACAGCGAGGAGCGGGGTTGGGAGCTGCTCTGGCTGTGCACGGGCCTTTTCCCACCCAGCAACATCCTCCTGCCCCACGTGCAGCGCTTCCTGCAGTCCCGAAAGCACTGCCCACTCGCCATCGACTGCCTGCAACGGCTCCAGAAAGCCCTGAGGTACAGCGGCCACCAGGGGCAGGGACAGACACTGG... | AAGGTCAGGAGGGACGGTGCTGCTGTGATGAGCAGCTGAGGGGTACATGGCCCCCTCACCCGGGGGTGCACAGGTCCTGTGACTCCCGATGGCAGCTGCCCCTGCTGGAGCCCACGCCTCCTCCTGCAGGTACAGCGAGGAGCGGGGTTGGGAGCTGCTCTGGCTGTGCACGGGCCTTTTCCCACCCAGCAACATCCTCCTGCCCCACGTGCAGCGCTTCCTGCAGTCCCGAAAGCACTGCCCACTCGCCATCGACTGCCTGCAACGGCTCCAGAAAGCCCTGAGGTACAGCGGCCACCAGGGGCAGGGACAGACACTGG... | pathogenic | 181,395 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 77208452, gene MYO7A (myosin VIIA): what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Rare_genetic_deafness', 'Usher_syndrome_type_1', 'Usher_syndrome_type_1B'] | CTTCCTGGAGCAGCTTCCTTCAGAAGGGCGCCCCTCCCTCCCTGTCTCTGAGGAGGACTTGCCTTGGAGAAAAGCGCTTCTCCCTCTGAGCTGGCTTTGCACTGGCTTTGCACCTCCCTGATGTAGGGCCCCACTGGCCCCCAGGTCCAGACCTCCCCTGTCGACTGAGCCCACTTTCCTGCAGGCAGAACCTCAACACCCCTTCCTCCCTCTCCACCTGAGGTGGTTGAGGTTCCCTCCATCCAGGTCCTGTCTGCCAAAGGTCCTGTCTGTCATGCCTGTAGTCACGCTGCCCCTCATGGTCCCCAGCCCCTGCCTGT... | CTTCCTGGAGCAGCTTCCTTCAGAAGGGCGCCCCTCCCTCCCTGTCTCTGAGGAGGACTTGCCTTGGAGAAAAGCGCTTCTCCCTCTGAGCTGGCTTTGCACTGGCTTTGCACCTCCCTGATGTAGGGCCCCACTGGCCCCCAGGTCCAGACCTCCCCTGTCGACTGAGCCCACTTTCCTGCAGGCAGAACCTCAACACCCCTTCCTCCCTCTCCACCTGAGGTGGTTGAGGTTCCCTCCATCCAGGTCCTGTCTGCCAAAGGTCCTGTCTGTCATGCCTGTAGTCACGCTGCCCCTCATGGTCCCCAGCCCCTGCCTGT... | pathogenic | 181,403 |
Is the variant located on chromosome 11 at position 77208456, gene MYO7A (myosin VIIA), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | CTGGAGCAGCTTCCTTCAGAAGGGCGCCCCTCCCTCCCTGTCTCTGAGGAGGACTTGCCTTGGAGAAAAGCGCTTCTCCCTCTGAGCTGGCTTTGCACTGGCTTTGCACCTCCCTGATGTAGGGCCCCACTGGCCCCCAGGTCCAGACCTCCCCTGTCGACTGAGCCCACTTTCCTGCAGGCAGAACCTCAACACCCCTTCCTCCCTCTCCACCTGAGGTGGTTGAGGTTCCCTCCATCCAGGTCCTGTCTGCCAAAGGTCCTGTCTGTCATGCCTGTAGTCACGCTGCCCCTCATGGTCCCCAGCCCCTGCCTGTCTCA... | CTGGAGCAGCTTCCTTCAGAAGGGCGCCCCTCCCTCCCTGTCTCTGAGGAGGACTTGCCTTGGAGAAAAGCGCTTCTCCCTCTGAGCTGGCTTTGCACTGGCTTTGCACCTCCCTGATGTAGGGCCCCACTGGCCCCCAGGTCCAGACCTCCCCTGTCGACTGAGCCCACTTTCCTGCAGGCAGAACCTCAACACCCCTTCCTCCCTCTCCACCTGAGGTGGTTGAGGTTCCCTCCATCCAGGTCCTGTCTGCCAAAGGTCCTGTCTGTCATGCCTGTAGTCACGCTGCCCCTCATGGTCCCCAGCCCCTGCCTGTCTCA... | pathogenic | 181,404 |
Mutation at chromosome 11, position 77208775, within MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Rare_genetic_deafness', 'Retinal_dystrophy', 'Usher_syndrome_type_1', 'Usher_syndrome_type_1B'] | AACACAGTGTCTCATTCAGATAAGCTTTTCATTTGAAGAGTCATTTATGAAACTTGTCTGAGGCTGGAGACTCAGAAATGCCATAACAGGATTTCATTTGCAAGGACCAAAGACTTCCTCAAATCCTTTCCTGTCCCTCCAGACATCTCTCCTGCCATTAAACTTCCCCAGACGCTCAAACCCTCCCATCTGTCCGGGCTGCTTTCCCCTCCGCTTTTGGGTTTGCTTTTCCTCTACCTCAAGTCTCCTCCTTCTAATCACCCTTCCAGTCATCCTGCTGTGCTCCCTGGACCCCTCACTGTCACTCAGGCTTGTACACC... | AACACAGTGTCTCATTCAGATAAGCTTTTCATTTGAAGAGTCATTTATGAAACTTGTCTGAGGCTGGAGACTCAGAAATGCCATAACAGGATTTCATTTGCAAGGACCAAAGACTTCCTCAAATCCTTTCCTGTCCCTCCAGACATCTCTCCTGCCATTAAACTTCCCCAGACGCTCAAACCCTCCCATCTGTCCGGGCTGCTTTCCCCTCCGCTTTTGGGTTTGCTTTTCCTCTACCTCAAGTCTCCTCCTTCTAATCACCCTTCCAGTCATCCTGCTGTGCTCCCTGGACCCCTCACTGTCACTCAGGCTTGTACACC... | pathogenic | 181,415 |
Gene MYO7A (myosin VIIA) variant at chromosome position 77211188 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | GCATAGGCACCTGCAGGAAGCCGGGAGGGAAGCTTGCATGTTGAGCCTCTATTATGTGTCTGGCACTCTTCTCTCATTCTGTCCTCCCAACTAACCCCAAGAAGCAGGCATGTTGTCCCCATTTGACAGAGGGACAAAGAGACTCAGGCCGCGTGCTGTGATTAGGATCACACAGCTGATGGAACTGGGGTTTGATTCCAGGTCTTCATGACTGCAGGTTGGTGCTCTTTTCTGGGCTCAGCCTGCTTACCATTCTGTGGGAGAAAAACCATGATGCTGGGAAGGGCAGAGGAGGCAGGGACGGTGGCTGCTGTGGCAGA... | GCATAGGCACCTGCAGGAAGCCGGGAGGGAAGCTTGCATGTTGAGCCTCTATTATGTGTCTGGCACTCTTCTCTCATTCTGTCCTCCCAACTAACCCCAAGAAGCAGGCATGTTGTCCCCATTTGACAGAGGGACAAAGAGACTCAGGCCGCGTGCTGTGATTAGGATCACACAGCTGATGGAACTGGGGTTTGATTCCAGGTCTTCATGACTGCAGGTTGGTGCTCTTTTCTGGGCTCAGCCTGCTTACCATTCTGTGGGAGAAAAACCATGATGCTGGGAAGGGCAGAGGAGGCAGGGACGGTGGCTGCTGTGGCAGA... | pathogenic | 181,433 |
Regarding the variant at chromosome 11 and position 77211325, affecting gene MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | AGAGACTCAGGCCGCGTGCTGTGATTAGGATCACACAGCTGATGGAACTGGGGTTTGATTCCAGGTCTTCATGACTGCAGGTTGGTGCTCTTTTCTGGGCTCAGCCTGCTTACCATTCTGTGGGAGAAAAACCATGATGCTGGGAAGGGCAGAGGAGGCAGGGACGGTGGCTGCTGTGGCAGAGAGGACACTGGCCTGGGAGTGAGAAGGACTGCCCTCATCCAAACCTGGGATCTACCTTTCCTCATGCCCCTCCCCACCCACCCCATGCTGCCCACTGAGTGCATGGCCCCTGGACTACCAGTTCCCCCAGAGTCAGC... | AGAGACTCAGGCCGCGTGCTGTGATTAGGATCACACAGCTGATGGAACTGGGGTTTGATTCCAGGTCTTCATGACTGCAGGTTGGTGCTCTTTTCTGGGCTCAGCCTGCTTACCATTCTGTGGGAGAAAAACCATGATGCTGGGAAGGGCAGAGGAGGCAGGGACGGTGGCTGCTGTGGCAGAGAGGACACTGGCCTGGGAGTGAGAAGGACTGCCCTCATCCAAACCTGGGATCTACCTTTCCTCATGCCCCTCCCCACCCACCCCATGCTGCCCACTGAGTGCATGGCCCCTGGACTACCAGTTCCCCCAGAGTCAGC... | pathogenic | 181,439 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 77211329, gene MYO7A (myosin VIIA): what disease(s) if pathogenic? | pathogenic; ['Rare_genetic_deafness', 'Usher_syndrome_type_1'] | ACTCAGGCCGCGTGCTGTGATTAGGATCACACAGCTGATGGAACTGGGGTTTGATTCCAGGTCTTCATGACTGCAGGTTGGTGCTCTTTTCTGGGCTCAGCCTGCTTACCATTCTGTGGGAGAAAAACCATGATGCTGGGAAGGGCAGAGGAGGCAGGGACGGTGGCTGCTGTGGCAGAGAGGACACTGGCCTGGGAGTGAGAAGGACTGCCCTCATCCAAACCTGGGATCTACCTTTCCTCATGCCCCTCCCCACCCACCCCATGCTGCCCACTGAGTGCATGGCCCCTGGACTACCAGTTCCCCCAGAGTCAGCCTTG... | ACTCAGGCCGCGTGCTGTGATTAGGATCACACAGCTGATGGAACTGGGGTTTGATTCCAGGTCTTCATGACTGCAGGTTGGTGCTCTTTTCTGGGCTCAGCCTGCTTACCATTCTGTGGGAGAAAAACCATGATGCTGGGAAGGGCAGAGGAGGCAGGGACGGTGGCTGCTGTGGCAGAGAGGACACTGGCCTGGGAGTGAGAAGGACTGCCCTCATCCAAACCTGGGATCTACCTTTCCTCATGCCCCTCCCCACCCACCCCATGCTGCCCACTGAGTGCATGGCCCCTGGACTACCAGTTCCCCCAGAGTCAGCCTTG... | pathogenic | 181,440 |
Assess the variant on chromosome 11, position 77212971, impacting MYO7A (myosin VIIA): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hearing_loss,_autosomal_recessive', 'Usher_syndrome_type_1'] | GGCCATGCACTCCAACTGCCAACTGCTGAGTCTGTGCAGGCAGACTTGCTCTGTCCCTGTCCTGTGCCGTATCCCCTGGGGGAGCAGTGTCAGCTGAGGCTGGAGAGGTGGGTGGGCCCATGTGCGGGGTAAGGTGGTAGACCCCGGCGTTGGGGGTCTTGGTGTGGTGGGAAAGGAGCCCACTTCTGCCAGGTCCCTGCACGCCTGTGACCTGCTCTGTCTCTGACAGGAGTTGCCCAAGTATCTCCGAGGCTACCACAAGTGCACGCGGGAGGAGGTGCTGCAGCTGGGGGCGCTGATCTACAGGGTCAAGTTCGAGG... | GGCCATGCACTCCAACTGCCAACTGCTGAGTCTGTGCAGGCAGACTTGCTCTGTCCCTGTCCTGTGCCGTATCCCCTGGGGGAGCAGTGTCAGCTGAGGCTGGAGAGGTGGGTGGGCCCATGTGCGGGGTAAGGTGGTAGACCCCGGCGTTGGGGGTCTTGGTGTGGTGGGAAAGGAGCCCACTTCTGCCAGGTCCCTGCACGCCTGTGACCTGCTCTGTCTCTGACAGGAGTTGCCCAAGTATCTCCGAGGCTACCACAAGTGCACGCGGGAGGAGGTGCTGCAGCTGGGGGCGCTGATCTACAGGGTCAAGTTCGAGG... | pathogenic | 181,459 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 77214658, gene MYO7A (myosin VIIA). What disease(s) is it linked to if pathogenic? | benign | ACAGCTAGGATGGGAGGCCTTTTGAGGAGCTTGGCTGTGCGAGGAGAACAGGTAGGTAGCTGGAGGCAGGTGCAGGGTCCAGGAGGCTTTTTAAAGATGGGAGGCCCTTGGGCTGAGAGGGAGGACAAAGCAGAGGATGGCCTGGGGGACCCAGGAAGGGATGTGGGGCAGCACTGAGGGCCCAGCGGAGGTGGAAGCCATAGGTCATGGCAGGGCCGTCAGTACCACATAGGCAACAGGAGAGGCTGACTTTATCCCAGCTGGGGCCAGGCTTCATTCCTGTCCCCAAATGCTTTTCTTGCTCTGGGCCCCCATCTGAT... | ACAGCTAGGATGGGAGGCCTTTTGAGGAGCTTGGCTGTGCGAGGAGAACAGGTAGGTAGCTGGAGGCAGGTGCAGGGTCCAGGAGGCTTTTTAAAGATGGGAGGCCCTTGGGCTGAGAGGGAGGACAAAGCAGAGGATGGCCTGGGGGACCCAGGAAGGGATGTGGGGCAGCACTGAGGGCCCAGCGGAGGTGGAAGCCATAGGTCATGGCAGGGCCGTCAGTACCACATAGGCAACAGGAGAGGCTGACTTTATCCCAGCTGGGGCCAGGCTTCATTCCTGTCCCCAAATGCTTTTCTTGCTCTGGGCCCCCATCTGAT... | benign | 181,482 |
A genetic variant on chromosome 11, position 78106927, affects the gene ALG8 (ALG8 alpha-1,3-glucosyltransferase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['ALG8_congenital_disorder_of_glycosylation', 'Polycystic_liver_disease_3_with_or_without_kidney_cysts'] | GCTTGAACCTGGGAGGCAGAGGATGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAATCTTGCTTCCCTGAGTAATTGCCTTCTCCAAAGACAGGAATGTTGTGGGATTGGGAGCTGCCTAGTGGTGGCAGTCAGGGAAACAGGACTTGGAGTTTCATTTCCAACCCTATAGCTCATCTCTTGGACAATGCCCTTCACCTGCTGGTGTTTGGTGTGAATTCAGACTAAAGACATTAAAAGTTTTTGCTTTACTTTTTAATTTGGAAACTCCAA... | GCTTGAACCTGGGAGGCAGAGGATGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAATCTTGCTTCCCTGAGTAATTGCCTTCTCCAAAGACAGGAATGTTGTGGGATTGGGAGCTGCCTAGTGGTGGCAGTCAGGGAAACAGGACTTGGAGTTTCATTTCCAACCCTATAGCTCATCTCTTGGACAATGCCCTTCACCTGCTGGTGTTTGGTGTGAATTCAGACTAAAGACATTAAAAGTTTTTGCTTTACTTTTTAATTTGGAAACTCCAA... | pathogenic | 181,509 |
Regarding the variant at chromosome 11 and position 78109498, affecting gene ALG8 (ALG8 alpha-1,3-glucosyltransferase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['ALG8-related_disorder', 'ALG8_congenital_disorder_of_glycosylation', 'Autosomal_dominant_polycystic_liver_disease', 'Polycystic_liver_disease_3_with_or_without_kidney_cysts'] | ACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTTTGAGCCACCGCACCTAGCCTTGATGTATATATTTAACTCATTAAAATTAATTCTACTGGCTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGTTAGGAGTTCAAGAACAGCCTGACCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAACTAGCTGGGCGTGGTGGTACATACCTGTATTCCCAGGTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGG... | ACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTTTGAGCCACCGCACCTAGCCTTGATGTATATATTTAACTCATTAAAATTAATTCTACTGGCTGGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGTTAGGAGTTCAAGAACAGCCTGACCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAACTAGCTGGGCGTGGTGGTACATACCTGTATTCCCAGGTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGG... | pathogenic | 181,511 |
Located at chromosome 11 position 78112723, the variant affecting gene ALG8 (ALG8 alpha-1,3-glucosyltransferase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['ALG8_congenital_disorder_of_glycosylation', 'Polycystic_liver_disease_3_with_or_without_kidney_cysts'] | CCCCAACAAGCTCTGGCTAATAGGACAGTCAGAGACAGTTTGAGCACCTATAGGGCCTGTCAAATGCCAGTGAAAATGAATACAATGTGGGAAAGATGTACCAAAATATTTTCTACTTACTAACCTCTTCCCCTTTCCCCTTTGGCCTGCTGATTCTCTCTTACAGCTAATAACTATCTCCCTAAAACAAAGTTGTCTAACTCTGACACTGACTTTCCATGTAAAACATCTTCAAAGACACAAACATACAAGTGAGGGTACAGTACAGCTTCCTGACTCAGACAAGGCAACTGGCCCTTGTACCTCATACTATGCTGGCT... | CCCCAACAAGCTCTGGCTAATAGGACAGTCAGAGACAGTTTGAGCACCTATAGGGCCTGTCAAATGCCAGTGAAAATGAATACAATGTGGGAAAGATGTACCAAAATATTTTCTACTTACTAACCTCTTCCCCTTTCCCCTTTGGCCTGCTGATTCTCTCTTACAGCTAATAACTATCTCCCTAAAACAAAGTTGTCTAACTCTGACACTGACTTTCCATGTAAAACATCTTCAAAGACACAAACATACAAGTGAGGGTACAGTACAGCTTCCTGACTCAGACAAGGCAACTGGCCCTTGTACCTCATACTATGCTGGCT... | pathogenic | 181,518 |
Evaluate the clinical significance of the mutation at chromosome 11, position 78112745 in gene ALG8 (ALG8 alpha-1,3-glucosyltransferase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['ALG8_congenital_disorder_of_glycosylation', 'Polycystic_liver_disease_3_with_or_without_kidney_cysts'] | GGACAGTCAGAGACAGTTTGAGCACCTATAGGGCCTGTCAAATGCCAGTGAAAATGAATACAATGTGGGAAAGATGTACCAAAATATTTTCTACTTACTAACCTCTTCCCCTTTCCCCTTTGGCCTGCTGATTCTCTCTTACAGCTAATAACTATCTCCCTAAAACAAAGTTGTCTAACTCTGACACTGACTTTCCATGTAAAACATCTTCAAAGACACAAACATACAAGTGAGGGTACAGTACAGCTTCCTGACTCAGACAAGGCAACTGGCCCTTGTACCTCATACTATGCTGGCTGTTTAAAGCTTTTTTTGAAATA... | GGACAGTCAGAGACAGTTTGAGCACCTATAGGGCCTGTCAAATGCCAGTGAAAATGAATACAATGTGGGAAAGATGTACCAAAATATTTTCTACTTACTAACCTCTTCCCCTTTCCCCTTTGGCCTGCTGATTCTCTCTTACAGCTAATAACTATCTCCCTAAAACAAAGTTGTCTAACTCTGACACTGACTTTCCATGTAAAACATCTTCAAAGACACAAACATACAAGTGAGGGTACAGTACAGCTTCCTGACTCAGACAAGGCAACTGGCCCTTGTACCTCATACTATGCTGGCTGTTTAAAGCTTTTTTTGAAATA... | pathogenic | 181,520 |
A genetic alteration at chromosome 11, position 78113901, in gene ALG8 (ALG8 alpha-1,3-glucosyltransferase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['ALG8_congenital_disorder_of_glycosylation', 'Polycystic_liver_disease_3_with_or_without_kidney_cysts'] | TAAAAACCATAGCCTGGGTTTTTCATTTCTTCTCACCTCATGTTAAAATGCAGGGTTATTTTCCTTACTGGTTTAATACCGAGAGTCACAACTTACATATTCTTCTTTCTTGTATGTTTAGGTTTAAAAGTGGGGTAGGCCAGGCATGGTGGCTTGTGCTGGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGAGGATCATTTGAGACCAGAAGTTTGATCCCACTCTGGGCAACATAGTGAGACCCTCATCTCTAAAAAACAAAAATTTAAAAATCAGCCAGGTGTGGTGGTATGCACCTGTGGTCCCAGCAACTCAGG... | TAAAAACCATAGCCTGGGTTTTTCATTTCTTCTCACCTCATGTTAAAATGCAGGGTTATTTTCCTTACTGGTTTAATACCGAGAGTCACAACTTACATATTCTTCTTTCTTGTATGTTTAGGTTTAAAAGTGGGGTAGGCCAGGCATGGTGGCTTGTGCTGGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGAGGATCATTTGAGACCAGAAGTTTGATCCCACTCTGGGCAACATAGTGAGACCCTCATCTCTAAAAAACAAAAATTTAAAAATCAGCCAGGTGTGGTGGTATGCACCTGTGGTCCCAGCAACTCAGG... | pathogenic | 181,522 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 78124079, gene ALG8 (ALG8 alpha-1,3-glucosyltransferase): what disease(s) if pathogenic? | pathogenic; ['ALG8_congenital_disorder_of_glycosylation', 'Inborn_genetic_diseases', 'Polycystic_liver_disease_3_with_or_without_kidney_cysts'] | GGAGTATGACTCATTTTTACTTTGCATGTGTGTGTGCTTTTCCAAAGTTTTTACAATGGGGATGTATTATTCTATAAAAAGACGATATTGAAAATGTGCTACATTTGAAGAGTGGCAAATTTTAACAATAAATCTAAAACAAATAATAGATGCAATTAAAGGGGGACTAGCAAAGGTATCCTCCTTTCGCCCTATGGAGCCTCAGTTCCCTCATGAATAGAGGCAGTAAACTTACAGGGTCACTGAGAAAATTAAATAAGTTAATAATCTGTATATCATGCTTGGTTCTGGGAACTGACACAGAGATTTCAATTTTTTTT... | GGAGTATGACTCATTTTTACTTTGCATGTGTGTGTGCTTTTCCAAAGTTTTTACAATGGGGATGTATTATTCTATAAAAAGACGATATTGAAAATGTGCTACATTTGAAGAGTGGCAAATTTTAACAATAAATCTAAAACAAATAATAGATGCAATTAAAGGGGGACTAGCAAAGGTATCCTCCTTTCGCCCTATGGAGCCTCAGTTCCCTCATGAATAGAGGCAGTAAACTTACAGGGTCACTGAGAAAATTAAATAAGTTAATAATCTGTATATCATGCTTGGTTCTGGGAACTGACACAGAGATTTCAATTTTTTTT... | pathogenic | 181,539 |
Gene ALG8 (ALG8 alpha-1,3-glucosyltransferase) variant at chromosome position 78127327 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTAAGTCTCACTTTTTGCACCTATACAACAGGGATAGTAGTATCTACCTCATGGGTTATGGTATTCCATTTTATATATACATATAAAATACTATATATGGTATCGAAACTCATAGGAAACTTGCAAAAAATTTGCCTTAAAAAAAACTCCCTGGGCCGGGCATAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGACCAACGTGGTGAAACCCTGTCT... | ACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTAAGTCTCACTTTTTGCACCTATACAACAGGGATAGTAGTATCTACCTCATGGGTTATGGTATTCCATTTTATATATACATATAAAATACTATATATGGTATCGAAACTCATAGGAAACTTGCAAAAAATTTGCCTTAAAAAAAACTCCCTGGGCCGGGCATAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGACCAACGTGGTGAAACCCTGTCT... | benign | 181,542 |
Regarding the variant at chromosome 11 and position 85631741, affecting gene TMEM126B (transmembrane protein 126B): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_29'] | GGTTACTCATGTTATTGACGTCTGCCAAGACAGCAGATGTCTTAGTACAATAGATGGGTTAGGTATAGAATCTCCCTTAGATGTTACTATCCCTTATACTTTCCATTTGGGTGTCAGGGAGAGGGAAAAGATGTAAGTCTAGTCACTGAAAAATTGTAATTTGTAAAATATTTTACCTTTTTTTCCCCCTGCCCTCTCCAGAAATGTTACAGAAAAAGATTGAGTACATTTCTGCCATGATGCAGAGAAAGAAACTGGTCCATTATTACTCATTGTGTAACACCATAAGAAGGTTCAAAGGAGCTCATACCTTCTGTATG... | GGTTACTCATGTTATTGACGTCTGCCAAGACAGCAGATGTCTTAGTACAATAGATGGGTTAGGTATAGAATCTCCCTTAGATGTTACTATCCCTTATACTTTCCATTTGGGTGTCAGGGAGAGGGAAAAGATGTAAGTCTAGTCACTGAAAAATTGTAATTTGTAAAATATTTTACCTTTTTTTCCCCCTGCCCTCTCCAGAAATGTTACAGAAAAAGATTGAGTACATTTCTGCCATGATGCAGAGAAAGAAACTGGTCCATTATTACTCATTGTGTAACACCATAAGAAGGTTCAAAGGAGCTCATACCTTCTGTATG... | pathogenic | 181,645 |
Does the variant impacting TMEM126B (transmembrane protein 126B) on chromosome 11, position 85634170, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_29', 'TMEM126B-related_disorder'] | GGTACTTATATTTAATTGGTGAGTAATTATAATCAGTTTAGGATTGATTATCTCAGCCACAGTACTTAGTACAGCAAAAGGGAATACAGATTTCATGGTATAAATATAGTCTCACATTAACATATTGACTTTTTTTTTTGAGATAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATCTCCAGCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTACCACCACAACCAGCTAATTTTTGTATTTTTAGTAGAGATGGTTTAACC... | GGTACTTATATTTAATTGGTGAGTAATTATAATCAGTTTAGGATTGATTATCTCAGCCACAGTACTTAGTACAGCAAAAGGGAATACAGATTTCATGGTATAAATATAGTCTCACATTAACATATTGACTTTTTTTTTTGAGATAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATCTCCAGCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTACCACCACAACCAGCTAATTTTTGTATTTTTAGTAGAGATGGTTTAACC... | pathogenic | 181,647 |
Does the variant on chromosome 11 at location 85634199 affecting gene TMEM126B (transmembrane protein 126B) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_29', 'Mitochondrial_complex_I_deficiency,_nuclear_type_1'] | TAATCAGTTTAGGATTGATTATCTCAGCCACAGTACTTAGTACAGCAAAAGGGAATACAGATTTCATGGTATAAATATAGTCTCACATTAACATATTGACTTTTTTTTTTGAGATAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATCTCCAGCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTACCACCACAACCAGCTAATTTTTGTATTTTTAGTAGAGATGGTTTAACCATGTTGGCCAGACTGGCCATTTTGACTTT... | TAATCAGTTTAGGATTGATTATCTCAGCCACAGTACTTAGTACAGCAAAAGGGAATACAGATTTCATGGTATAAATATAGTCTCACATTAACATATTGACTTTTTTTTTTGAGATAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATCTCCAGCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTACCACCACAACCAGCTAATTTTTGTATTTTTAGTAGAGATGGTTTAACCATGTTGGCCAGACTGGCCATTTTGACTTT... | pathogenic | 181,648 |
Is the genetic variant on chromosome 11, position 85635686, gene TMEM126B (transmembrane protein 126B), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_29'] | ATGTATCTGGGACTAATGAAGAAATAGAAGGCCTAACCAAATGTAAACAGCTTTTTTTTAGATGAACTTAAGCAAAGTAAATCTTTTAGTTGCAGGAAAGGTATTCTTGGATTTGGGTAGCTCATAAAATTTGGCTGCATTGGAACATATTTATATTTATTTGTGGCCAAAATTATTTAAAAGAGCTCTATTTTAGAATTACTGTAAATATTCTTAGAAAGAGAATCATGTCCTCTCATTAGAATACAAGTTCTATGAGGGGTGGGAAATTTCTTTTTTTCTTTTGCTTTGTTTACTGTCCTATCTTAAGCACTTAGAAA... | ATGTATCTGGGACTAATGAAGAAATAGAAGGCCTAACCAAATGTAAACAGCTTTTTTTTAGATGAACTTAAGCAAAGTAAATCTTTTAGTTGCAGGAAAGGTATTCTTGGATTTGGGTAGCTCATAAAATTTGGCTGCATTGGAACATATTTATATTTATTTGTGGCCAAAATTATTTAAAAGAGCTCTATTTTAGAATTACTGTAAATATTCTTAGAAAGAGAATCATGTCCTCTCATTAGAATACAAGTTCTATGAGGGGTGGGAAATTTCTTTTTTTCTTTTGCTTTGTTTACTGTCCTATCTTAAGCACTTAGAAA... | pathogenic | 181,651 |
A genetic variant on chromosome 11, position 86277996, affects the gene EED (embryonic ectoderm development). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | ATTTAAATGCCTGTGAACCCCACAGGGCTGCCACCTGTCACTATATTATGTAGGCTGTCCAGTAAAACTCTAGGGGCACTGTTCACTTACATGAGGATTTCTGAATCCTGGTGCTATTTAGTTTAGGCCAGATAATTCTTTTTTTTGTAGGGGGTTTCCTGTGCATTATAAGATATTTAGTAGCATCTTTGGCCTCTACCCATTAGAGCACAGACACATTGTCAAATGTCCCTTCGTGGGCAAACCACTGACCTAGACAGTAATATGAATAGTGCCCACAGTTTTGCAATTTTTTCTCATTGTATTCTTTACCACTTACT... | ATTTAAATGCCTGTGAACCCCACAGGGCTGCCACCTGTCACTATATTATGTAGGCTGTCCAGTAAAACTCTAGGGGCACTGTTCACTTACATGAGGATTTCTGAATCCTGGTGCTATTTAGTTTAGGCCAGATAATTCTTTTTTTTGTAGGGGGTTTCCTGTGCATTATAAGATATTTAGTAGCATCTTTGGCCTCTACCCATTAGAGCACAGACACATTGTCAAATGTCCCTTCGTGGGCAAACCACTGACCTAGACAGTAATATGAATAGTGCCCACAGTTTTGCAATTTTTTCTCATTGTATTCTTTACCACTTACT... | benign | 181,711 |
The mutation in gene FZD4 at chromosome 11, position 86951253—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Exudative_vitreoretinopathy_1'] | ACAATCGACTTTACATGCATCTTGATGTCAGAGAGCTCAAGAACCACACAAAAACAAAAAGGAAAGAAGAAAGGGAAATGTCAAACTATGGGCATAAGGCTCAAACCAAATTTTTAAAAAAGAGGAAATGCTTACTTCCAGAATTTGACCACCTTTTTGGAATTTTGAGTCCCTGGAAATGTTTTTCCACAAAGTGTGATTGAAAAAAAAAAAAAGAAAAAAAAAAGCTTCCCTTCCTATTTTTTTAAGGCATGAATTAATAAATAAATGTCATTGCAAAGCAGTTGCTGAAGCAGACAGGTATGAGTTACAAGGAGAGC... | ACAATCGACTTTACATGCATCTTGATGTCAGAGAGCTCAAGAACCACACAAAAACAAAAAGGAAAGAAGAAAGGGAAATGTCAAACTATGGGCATAAGGCTCAAACCAAATTTTTAAAAAAGAGGAAATGCTTACTTCCAGAATTTGACCACCTTTTTGGAATTTTGAGTCCCTGGAAATGTTTTTCCACAAAGTGTGATTGAAAAAAAAAAAAAGAAAAAAAAAAGCTTCCCTTCCTATTTTTTTAAGGCATGAATTAATAAATAAATGTCATTGCAAAGCAGTTGCTGAAGCAGACAGGTATGAGTTACAAGGAGAGC... | pathogenic | 181,730 |
Considering the variant on chromosome 11, location 86951470, involving gene FZD4, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Exudative_retinopathy', 'Exudative_vitreoretinopathy_1', 'Familial_exudative_vitreoretinopathy', 'Retinal_dystrophy'] | AAAAAAAAAGCTTCCCTTCCTATTTTTTTAAGGCATGAATTAATAAATAAATGTCATTGCAAAGCAGTTGCTGAAGCAGACAGGTATGAGTTACAAGGAGAGCAACCTGTGACATAGTCAATTTGTCCCCAAGATCTCATGATTAGAACGCCTAAGGCAAGGTAAGAGAAAGGCCAGTTACAGTTTTAAGAGAAGTGCAATTTTCGAGAGGCTGCTGGGGGTACCCCCTTGTGAAGAACGTATGCATAAATTTTAAAAGCTTTGGATACCTCTGCTAAAGGCAATTAAGACCTGGGCTATTAGAGTTTGCAGTTCATTTC... | AAAAAAAAAGCTTCCCTTCCTATTTTTTTAAGGCATGAATTAATAAATAAATGTCATTGCAAAGCAGTTGCTGAAGCAGACAGGTATGAGTTACAAGGAGAGCAACCTGTGACATAGTCAATTTGTCCCCAAGATCTCATGATTAGAACGCCTAAGGCAAGGTAAGAGAAAGGCCAGTTACAGTTTTAAGAGAAGTGCAATTTTCGAGAGGCTGCTGGGGGTACCCCCTTGTGAAGAACGTATGCATAAATTTTAAAAGCTTTGGATACCTCTGCTAAAGGCAATTAAGACCTGGGCTATTAGAGTTTGCAGTTCATTTC... | pathogenic | 181,736 |
Benign or pathogenic: chromosome 11, position 86955036, gene FZD4 (frizzled class receptor 4) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_exudative_vitreoretinopathy'] | AAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAG... | AAAATGGCCCAAATGAGACACTGTTAGACTCAAGGATGGGATGCAGATTGAGGTCTCTGGTCACTAGGGATTTGTTTGGCCAGGTTTCCTCAATGAATAATAATGAAGCACAATAGGAAAATGTAAATGTTAAGTCGCTGAAACTGCAGTACCAGCAGGGGAGAGTCCAGTTGCTGTCCTCAATTCCTCCAGCATTGATAAACAGTCTGCTTGGCTCCTTACAGATGTTGTCTATGAAGTCTAGAGTTACAAGTAACTATTTTCCAGCATGTAAAGGGATCCAGTCTTGTCCTTCAAAACAGCTTGGCCGCTTTCCCCAG... | pathogenic | 181,744 |
A genetic variant on chromosome 11, position 88604708, affects the gene GRM5 (glutamate metabotropic receptor 5). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TCAGGCTGTTGTATAATGTTAGAAGTTGAAGCCCAGGAGACAGAGTTAAAATTTTGACTCTATCATTTACTAGACTGTGTTTTTGGGCAAGTCATTGAACTTTTGTAAGCTTTGGTTTTCTTTAGCTGGAAAAAAGAATGGTAACATTACTTACCTCATAGGATTAAAAAGTAGAACACTTGGCTTAGTCTTTGGCTCAGAACACACACTCAATATATGCTAGTTATAATTTTTTTTGTAAAAGTAACTGGATTATTTGGAGAAACAAAAGGTGGTAAATCACCTTTTCCTGAGTCTGCTTCATGCCCTTAGAGGCCAAC... | TCAGGCTGTTGTATAATGTTAGAAGTTGAAGCCCAGGAGACAGAGTTAAAATTTTGACTCTATCATTTACTAGACTGTGTTTTTGGGCAAGTCATTGAACTTTTGTAAGCTTTGGTTTTCTTTAGCTGGAAAAAAGAATGGTAACATTACTTACCTCATAGGATTAAAAAGTAGAACACTTGGCTTAGTCTTTGGCTCAGAACACACACTCAATATATGCTAGTTATAATTTTTTTTGTAAAAGTAACTGGATTATTTGGAGAAACAAAAGGTGGTAAATCACCTTTTCCTGAGTCTGCTTCATGCCCTTAGAGGCCAAC... | benign | 181,796 |
Does the variant impacting TYR (tyrosinase) on chromosome 11, position 89178026, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ocular_albinism', 'Oculocutaneous_albinism_type_1A', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | AAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCT... | AAAGAAAGAGAGAGAGAAAAGATTAAGCCTCCTTGTGGAGATCATGTGATGACTTCCTGATTCCAGCCAGAGGCAGCATTTCCATGGAAACTTCTCTTCCTCTTCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCT... | pathogenic | 181,809 |
Considering the genetic mutation at chromosome 11, position 89178129, impacting TYR (tyrosinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | TCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTA... | TCACCCACACACTGCTCCATGTACCTGCAAAGCCTGTTCTGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTA... | pathogenic | 181,819 |
Does the variant impacting TYR (tyrosinase) on chromosome 11, position 89178168, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Oculocutaneous_albinism_type_1A', 'Oculocutaneous_albinism_type_1B', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | TGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTT... | TGTCTCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTT... | pathogenic | 181,821 |
Evaluate the clinical significance of the mutation at chromosome 11, position 89178172 in gene TYR (tyrosinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | TCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGT... | TCAAAAAAGTTGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGT... | pathogenic | 181,822 |
A genetic variant on chromosome 11, position 89178182, affects the gene TYR (tyrosinase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Oculocutaneous_albinism_type_1A', 'Oculocutaneous_albinism_type_1B', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | TGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACA... | TGTTTGGATGAGCCGTGACTTTTTTTTTTCTTAAATAATGAGACAAACTCCAGAAAAAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACA... | pathogenic | 181,823 |
Evaluate this variant at chromosome 11, position 89178238, gene TYR (tyrosinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Abnormality_of_the_skin', 'Oculocutaneous_albinism_type_1A', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | AAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGG... | AAGAGAAAAAAGCAGAGCAGTCTGACATTCCGGCATCATCGAAATAGTGATGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGG... | pathogenic | 181,833 |
Evaluate this variant at chromosome 11, position 89178288, gene TYR (tyrosinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Oculocutaneous_albinism', 'Oculocutaneous_albinism_type_1A', 'Oculocutaneous_albinism_type_1B', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | TGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCT... | TGGCTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCT... | pathogenic | 181,837 |
A genetic variant on chromosome 11, position 89178291, affects the gene TYR (tyrosinase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | CTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTA... | CTTTTCCTAGAATGCTTCAGCTAAGGACCCAAATACTAATGATCTCCTCAAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTA... | pathogenic | 181,838 |
Variant at chromosome position 89178340, chromosome 11, gene TYR (tyrosinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Oculocutaneous_albinism_type_1A'] | AAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCA... | AAAGCTTTCACTTTCTTTTACTTTTTCATTAATTTCAGTGGACCCCCAAACTTTAAGTATGGAAGAGGACAAAGAAGGAAGCTTCAGAGGGGCAACTTTGATTTGACTACTCTTTTTGTCACTCTTCAGCTCACAAAAGAGCTCACTTTAGTTCAAAACACAAAGTCTTTAAGCCCCTCCATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCA... | pathogenic | 181,841 |
Assess the variant on chromosome 11, position 89178520, impacting TYR (tyrosinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Oculocutaneous_albinism_type_1A', 'Oculocutaneous_albinism_type_1B', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN', 'TYR-related_disorder'] | ATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTA... | ATAGATTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTA... | pathogenic | 181,846 |
Classify the chromosome 11 variant at position 89178525 affecting gene TYR (tyrosinase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN', 'TYR-related_disorder'] | TTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCAT... | TTGGTCCCAGGTTTAATTTTCTATGATGTGTGGAGGCCTCAGTTTAATGCTCCAACTTGATAGATGAAACACAGTTCCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCAT... | pathogenic | 181,847 |
Considering the genetic mutation at chromosome 11, position 89178601, impacting TYR (tyrosinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Oculocutaneous_albinism_type_1A', 'Oculocutaneous_albinism_type_1B', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | CCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCT... | CCCACCTCTACACATTTCCCCTGTCTCAGGAGTTGTATATATTCTCAGTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCT... | pathogenic | 181,855 |
The chromosome 11, position 89178648 genetic variant in gene TYR (tyrosinase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Oculocutaneous_albinism_type_1A', 'Oculocutaneous_albinism_type_1B', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | GTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAATATATTTCTCCTTTTTCATTCACTCACTAATTGAGAATGT... | GTTGTCTGTCCAACTTATGCCCACTCTTTGAGATATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAATATATTTCTCCTTTTTCATTCACTCACTAATTGAGAATGT... | pathogenic | 181,860 |
The genetic variant at chromosome 11, position 89178681, affecting gene TYR (tyrosinase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Oculocutaneous_albinism_type_1A', 'Oculocutaneous_albinism_type_1B', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN', 'TYR-related_disorder'] | TATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAATATATTTCTCCTTTTTCATTCACTCACTAATTGAGAATGTCTTTGCACAAAACACATTGCAAAAACATTTTCA... | TATTAATCAAGGCACTCCCTTGATAACACTTGCATATTATTATCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAATATATTTCTCCTTTTTCATTCACTCACTAATTGAGAATGTCTTTGCACAAAACACATTGCAAAAACATTTTCA... | pathogenic | 181,863 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 89178723, gene TYR (tyrosinase): what disease(s) if pathogenic? | pathogenic; ['Oculocutaneous_albinism_type_1A', 'Oculocutaneous_albinism_type_1B', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | TCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAATATATTTCTCCTTTTTCATTCACTCACTAATTGAGAATGTCTTTGCACAAAACACATTGCAAAAACATTTTCAAAAAAATTCCTAATTTCTAGAATTGATAGGAAAAACAATATG... | TCAAAATTATGCAATTCTTTCTAATATCAGCCCACAAATACATCTCTTCCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAATATATTTCTCCTTTTTCATTCACTCACTAATTGAGAATGTCTTTGCACAAAACACATTGCAAAAACATTTTCAAAAAAATTCCTAATTTCTAGAATTGATAGGAAAAACAATATG... | pathogenic | 181,869 |
Chromosome 11, position 89178771, gene TYR (tyrosinase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | CCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAATATATTTCTCCTTTTTCATTCACTCACTAATTGAGAATGTCTTTGCACAAAACACATTGCAAAAACATTTTCAAAAAAATTCCTAATTTCTAGAATTGATAGGAAAAACAATATGGCTACAGCATTGGAGAGAGAGAGAAAGGAGAGAGGAGAAAGGAGAGAG... | CCATTAAAAGTTTGACTTAATTATCTATACTACTCATTTGAAAACTAACATAGTTAAGTTGTATTTTTAGCCATGAATTTCAGTTTCCCTAGCTCACTATACACAGAGAAGGAACTTTTGAAATAATTGAGATGATCAAAAATATTTGCTGAAGAAATATATTTCTCCTTTTTCATTCACTCACTAATTGAGAATGTCTTTGCACAAAACACATTGCAAAAACATTTTCAAAAAAATTCCTAATTTCTAGAATTGATAGGAAAAACAATATGGCTACAGCATTGGAGAGAGAGAGAAAGGAGAGAGGAGAAAGGAGAGAG... | pathogenic | 181,871 |
Variant at chromosome 11, position 89191198, gene TYR (tyrosinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Oculocutaneous_albinism_type_1A', 'Oculocutaneous_albinism_type_1B', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | TGGAAAACTTGGGTTGCCATCACAACACTGCCATTTATTTGCCATATAACCTGAGAAATGCCACTTACCCTCTCTGAGTCTCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAAT... | TGGAAAACTTGGGTTGCCATCACAACACTGCCATTTATTTGCCATATAACCTGAGAAATGCCACTTACCCTCTCTGAGTCTCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAAT... | pathogenic | 181,874 |
Considering the genetic mutation at chromosome 11, position 89191242, impacting TYR (tyrosinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Oculocutaneous_albinism_type_1A', 'Oculocutaneous_albinism_type_1B', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | TATAACCTGAGAAATGCCACTTACCCTCTCTGAGTCTCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAG... | TATAACCTGAGAAATGCCACTTACCCTCTCTGAGTCTCATTTTCCTTATTTGTGAAGCGAAATGTATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAG... | pathogenic | 181,882 |
Considering the genetic mutation at chromosome 11, position 89191307, impacting TYR (tyrosinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'Oculocutaneous_albinism_type_1A', 'Oculocutaneous_albinism_type_1B', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN', 'TYR-related_disorder'] | ATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTTTTAAAGCTACTGTTTATTGAGTGTTTTCT... | ATTGTTTTGTGATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTTTTAAAGCTACTGTTTATTGAGTGTTTTCT... | pathogenic | 181,890 |
Variant in gene TYR (tyrosinase), located at chromosome 11 position 89191317: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Oculocutaneous_albinism_type_1A', 'Oculocutaneous_albinism_type_1B', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | GATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTTTTAAAGCTACTGTTTATTGAGTGTTTTCTGTTGGTCATG... | GATGTAAATGAAACAATGCATGTGCCGTGTTTTCTTAAAAAGTTTTGCTTATAGAAAGGTGAGAAATTCTTATTTTTAAGACGGTATTTCTACAATGAAAATCACCTTGGTTCTAGCTAAAGGATCAGAGAAATTTCTTTTCTTAAAAAACAATCAACCACGAGTATTGTACTGCACATCAAAAAAAAAAGGGACAATAATAGGATATTTTATGAACAAAAAGCACAAAATGAAACTATTTCTAGTCCTTGACATTCTGAATATAATATAGATTAATGTTTTTAAAGCTACTGTTTATTGAGTGTTTTCTGTTGGTCATG... | pathogenic | 181,891 |
A mutation at chromosome position 89227831 on chromosome 11 in gene TYR (tyrosinase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Oculocutaneous_albinism_type_1A', 'Oculocutaneous_albinism_type_1B', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | GTAGGAAAATTATAGTTAACAACAATTTATTCTATTGTATATTTTTAAATAGCTAGAATAGAAGATTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTT... | GTAGGAAAATTATAGTTAACAACAATTTATTCTATTGTATATTTTTAAATAGCTAGAATAGAAGATTTGTAAGATTCCCAACACAAAGAAAAGATAAATGATCGAGGTGATTGATATTCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTT... | pathogenic | 181,908 |
Is the genetic change at chromosome 11, position 89227948, within gene TYR (tyrosinase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Oculocutaneous_albinism_type_1A', 'Oculocutaneous_albinism_type_1B', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | TCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACCATTGTATTTAGGAGC... | TCCAATTACTCTGATTTGATCATTACACCTTGTACATTATAGGCATCAAAATATCACATGTACCCCAAAGATATGTACAATTGTTACATACCAATGAAAAATATAAAACTTTAAAAATTCTTTTAAATTAAAAAAATCAGTTTGGGACCTACTTTAAAAAGTGTGAGAGTATACACTTTAAAAAGTGTGAGAGTTTTAAATTTTTCATTTGGTGCTACTCAGAGATAAAATCTTGAAAACAACTTCTATGAAGAACATTGTCCTCAGTGACATGATTTATTGCTACATAGCAAAGGAAGTAAACCATTGTATTTAGGAGC... | pathogenic | 181,921 |
Is the chromosome 11, position 89284824 variant in TYR (tyrosinase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Oculocutaneous_albinism_type_1B'] | ATCACTAAAGGCACTGCTCACATATGCAAGGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTT... | ATCACTAAAGGCACTGCTCACATATGCAAGGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTT... | pathogenic | 181,931 |
Evaluate if the mutation on chromosome 11 at position 89284852 in TYR (tyrosinase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Oculocutaneous_albinism_type_1A'] | AGGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCA... | AGGCTTTGGCATTTCTAAAACAGCATATGTTATGTCTCATCAATTTTAAAGTTTTTCCAGTATAGTCATAATACTTAGGAGGGGGAAGAAGAGAAGAGAGGAGCTGTGAGAAAGATAATAGCTTTTATGTACCACTTAACTGTGTATTTTGTGTTATTTTAATTAATCCTTACATTACCTTCATGACATAAATATAATTCCCATTTTGTAGAATAAAGAAGATCAAACAGATACAATTTTACAAATCTTCCCTGTCTCAACCTATAGAACTCAGATTTTTACACAGTTCTTTGTGTAACTTGACCTACAGTAGATACTCA... | pathogenic | 181,933 |
The chromosome 11, position 89295166 genetic variant in gene TYR (tyrosinase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Oculocutaneous_albinism_type_1', 'Oculocutaneous_albinism_type_1A', 'Oculocutaneous_albinism_type_1B', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | CTATTAAATGATACATTTAAATTGTCCAACTAATTATAGAATCATCTGTTTTATTTGAAATGTATGGCTTCAGGAAAATTTTGAATTTAATTTGATGTGATTTATTTCTTAGGTTGCTCAGTATGATGGCATCTCAAAAACATGGGCTTACCCATGATTTTTGTTTGGTGAATGTTTAAAAACAACACAAAAAGCCATTTATGTACACATTTTATGCATACACACACACACACACACACACACACACACACACAACCCAGAATGGTCCTTAGGATAAACGCAAGTTCTGATTGAGTAATGACTATGGAAATTTTCCCCGA... | CTATTAAATGATACATTTAAATTGTCCAACTAATTATAGAATCATCTGTTTTATTTGAAATGTATGGCTTCAGGAAAATTTTGAATTTAATTTGATGTGATTTATTTCTTAGGTTGCTCAGTATGATGGCATCTCAAAAACATGGGCTTACCCATGATTTTTGTTTGGTGAATGTTTAAAAACAACACAAAAAGCCATTTATGTACACATTTTATGCATACACACACACACACACACACACACACACACACACAACCCAGAATGGTCCTTAGGATAAACGCAAGTTCTGATTGAGTAATGACTATGGAAATTTTCCCCGA... | pathogenic | 181,940 |
A genetic variant on chromosome 11, position 89295202, affects the gene TYR (tyrosinase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Oculocutaneous_albinism_type_1A', 'Oculocutaneous_albinism_type_1B', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | TAGAATCATCTGTTTTATTTGAAATGTATGGCTTCAGGAAAATTTTGAATTTAATTTGATGTGATTTATTTCTTAGGTTGCTCAGTATGATGGCATCTCAAAAACATGGGCTTACCCATGATTTTTGTTTGGTGAATGTTTAAAAACAACACAAAAAGCCATTTATGTACACATTTTATGCATACACACACACACACACACACACACACACACACACAACCCAGAATGGTCCTTAGGATAAACGCAAGTTCTGATTGAGTAATGACTATGGAAATTTTCCCCGACATTTAGAAATGCTGTTCTCTAATGCAGAGGAAATA... | TAGAATCATCTGTTTTATTTGAAATGTATGGCTTCAGGAAAATTTTGAATTTAATTTGATGTGATTTATTTCTTAGGTTGCTCAGTATGATGGCATCTCAAAAACATGGGCTTACCCATGATTTTTGTTTGGTGAATGTTTAAAAACAACACAAAAAGCCATTTATGTACACATTTTATGCATACACACACACACACACACACACACACACACACACAACCCAGAATGGTCCTTAGGATAAACGCAAGTTCTGATTGAGTAATGACTATGGAAATTTTCCCCGACATTTAGAAATGCTGTTCTCTAATGCAGAGGAAATA... | pathogenic | 181,941 |
Variant in TYR (tyrosinase), chromosome 11, position 89295228—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Oculocutaneous_albinism_type_1A', 'Oculocutaneous_albinism_type_1B', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN'] | TATGGCTTCAGGAAAATTTTGAATTTAATTTGATGTGATTTATTTCTTAGGTTGCTCAGTATGATGGCATCTCAAAAACATGGGCTTACCCATGATTTTTGTTTGGTGAATGTTTAAAAACAACACAAAAAGCCATTTATGTACACATTTTATGCATACACACACACACACACACACACACACACACACACAACCCAGAATGGTCCTTAGGATAAACGCAAGTTCTGATTGAGTAATGACTATGGAAATTTTCCCCGACATTTAGAAATGCTGTTCTCTAATGCAGAGGAAATAATACATCATTTTATGAATACGTTCAT... | TATGGCTTCAGGAAAATTTTGAATTTAATTTGATGTGATTTATTTCTTAGGTTGCTCAGTATGATGGCATCTCAAAAACATGGGCTTACCCATGATTTTTGTTTGGTGAATGTTTAAAAACAACACAAAAAGCCATTTATGTACACATTTTATGCATACACACACACACACACACACACACACACACACACAACCCAGAATGGTCCTTAGGATAAACGCAAGTTCTGATTGAGTAATGACTATGGAAATTTTCCCCGACATTTAGAAATGCTGTTCTCTAATGCAGAGGAAATAATACATCATTTTATGAATACGTTCAT... | pathogenic | 181,942 |
The mutation impacting TYR (tyrosinase) on chromosome 11 at position 89295242: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Oculocutaneous_albinism', 'Oculocutaneous_albinism_type_1A', 'Oculocutaneous_albinism_type_1B', 'SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN', 'TYR-related_disorder'] | AATTTTGAATTTAATTTGATGTGATTTATTTCTTAGGTTGCTCAGTATGATGGCATCTCAAAAACATGGGCTTACCCATGATTTTTGTTTGGTGAATGTTTAAAAACAACACAAAAAGCCATTTATGTACACATTTTATGCATACACACACACACACACACACACACACACACACACAACCCAGAATGGTCCTTAGGATAAACGCAAGTTCTGATTGAGTAATGACTATGGAAATTTTCCCCGACATTTAGAAATGCTGTTCTCTAATGCAGAGGAAATAATACATCATTTTATGAATACGTTCATAGAAGAATAAGATA... | AATTTTGAATTTAATTTGATGTGATTTATTTCTTAGGTTGCTCAGTATGATGGCATCTCAAAAACATGGGCTTACCCATGATTTTTGTTTGGTGAATGTTTAAAAACAACACAAAAAGCCATTTATGTACACATTTTATGCATACACACACACACACACACACACACACACACACACAACCCAGAATGGTCCTTAGGATAAACGCAAGTTCTGATTGAGTAATGACTATGGAAATTTTCCCCGACATTTAGAAATGCTGTTCTCTAATGCAGAGGAAATAATACATCATTTTATGAATACGTTCATAGAAGAATAAGATA... | pathogenic | 181,943 |
Does the variant on chromosome 11 at location 93797687 affecting gene MED17 (mediator complex subunit 17) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Infantile_cerebral_and_cerebellar_atrophy_with_postnatal_progressive_microcephaly'] | GTAGACTTGCCCTGGAGATCAGTTTGTATTTAGCTTTGCACTTGTTTTTTACATAAATTCTAAGGACTGTCGTCTTAGAAGGAAGTAGGTTTTAGTGGTGAGAAATTCCATCCTACTTCTCATGGGAGCAGGGAAGACTAACTGTCTTTTACGCAGTAAGACTGCCTACCTACTCTTATTTTAAAGGAAAAAACAAATTAATATATAGCTTTTTCACCAGTCTTTAGCCAGTTCAAGGGCAGCAGCCATATTATGTGTCAACAGAATTTGAATTGTTAAAATACGTGGTAGCTTATTATATTCATGAATAGTTTTTTTTT... | GTAGACTTGCCCTGGAGATCAGTTTGTATTTAGCTTTGCACTTGTTTTTTACATAAATTCTAAGGACTGTCGTCTTAGAAGGAAGTAGGTTTTAGTGGTGAGAAATTCCATCCTACTTCTCATGGGAGCAGGGAAGACTAACTGTCTTTTACGCAGTAAGACTGCCTACCTACTCTTATTTTAAAGGAAAAAACAAATTAATATATAGCTTTTTCACCAGTCTTTAGCCAGTTCAAGGGCAGCAGCCATATTATGTGTCAACAGAATTTGAATTGTTAAAATACGTGGTAGCTTATTATATTCATGAATAGTTTTTTTTT... | pathogenic | 182,013 |
Clinically, how would you classify the variant at chromosome 11, position 94437318, gene MRE11 (MRE11 homolog, double strand break repair nuclease): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TGAGGCCAAGCGCACTGGCTCACATCTGTAATCCAGGCACTTTGGGAGGTCGAGGTGGGTGGATCGCCTGAGCTCAGGAGTTCAAGACCAGCTTGGGCAACATGGCAAAACCCTGTGTCTACCAAAAATACAAAAAATTAGCCACGTGTGGTGGTGCACGTCTGTAATCCCAACTATTCAGGAGGCTGAGGTGGGAGAATTGCTTGAGCCCAGAAAGTGGAGGTTGCAGTGAGCCAAGATCGCACTACTGCACTCCAGTCTAGGCGACAGAATGAGGCACTGTCTCAAAAAATAAATAAATAAATAAAAAGAAAGAAAAG... | TGAGGCCAAGCGCACTGGCTCACATCTGTAATCCAGGCACTTTGGGAGGTCGAGGTGGGTGGATCGCCTGAGCTCAGGAGTTCAAGACCAGCTTGGGCAACATGGCAAAACCCTGTGTCTACCAAAAATACAAAAAATTAGCCACGTGTGGTGGTGCACGTCTGTAATCCCAACTATTCAGGAGGCTGAGGTGGGAGAATTGCTTGAGCCCAGAAAGTGGAGGTTGCAGTGAGCCAAGATCGCACTACTGCACTCCAGTCTAGGCGACAGAATGAGGCACTGTCTCAAAAAATAAATAAATAAATAAAAAGAAAGAAAAG... | benign | 182,087 |
Classify the chromosome 11 variant at position 94447227 affecting gene MRE11 (MRE11 homolog, double strand break repair nuclease) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia-like_disorder_1', 'Hereditary_cancer-predisposing_syndrome'] | GACAGTTCCTCTCTCTTTCGACCACTGTCCATATAGTGACCAACTACTTCACTTTCCTGTTTCCAGGGTCTCTCTGCCAAACAGAAACAGCATTTGTCTGAAAGTAAGAAATTATAAAACATAATTTTTGTTTTGTTTTGTTTTGTTTTTGAGACGGAGTCTCTCTCTGTTGCTAGGGTAGAGTCCAATGGCATGATCTTGGCTCACTGCAACCTCCAGTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTGATTTTTGTATTTTTAGTAGAGAC... | GACAGTTCCTCTCTCTTTCGACCACTGTCCATATAGTGACCAACTACTTCACTTTCCTGTTTCCAGGGTCTCTCTGCCAAACAGAAACAGCATTTGTCTGAAAGTAAGAAATTATAAAACATAATTTTTGTTTTGTTTTGTTTTGTTTTTGAGACGGAGTCTCTCTCTGTTGCTAGGGTAGAGTCCAATGGCATGATCTTGGCTCACTGCAACCTCCAGTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTGATTTTTGTATTTTTAGTAGAGAC... | pathogenic | 182,096 |
Is the variant located on chromosome 11 at position 94447259, gene MRE11 (MRE11 homolog, double strand break repair nuclease), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia-like_disorder_1'] | ATAGTGACCAACTACTTCACTTTCCTGTTTCCAGGGTCTCTCTGCCAAACAGAAACAGCATTTGTCTGAAAGTAAGAAATTATAAAACATAATTTTTGTTTTGTTTTGTTTTGTTTTTGAGACGGAGTCTCTCTCTGTTGCTAGGGTAGAGTCCAATGGCATGATCTTGGCTCACTGCAACCTCCAGTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTGATTTTTGTATTTTTAGTAGAGACCGGGTTTCACCATGTTGGCCAGGCTGGTCTCG... | ATAGTGACCAACTACTTCACTTTCCTGTTTCCAGGGTCTCTCTGCCAAACAGAAACAGCATTTGTCTGAAAGTAAGAAATTATAAAACATAATTTTTGTTTTGTTTTGTTTTGTTTTTGAGACGGAGTCTCTCTCTGTTGCTAGGGTAGAGTCCAATGGCATGATCTTGGCTCACTGCAACCTCCAGTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTGATTTTTGTATTTTTAGTAGAGACCGGGTTTCACCATGTTGGCCAGGCTGGTCTCG... | pathogenic | 182,100 |
Variant in gene MRE11 (MRE11 homolog, double strand break repair nuclease), located at chromosome 11 position 94447361: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Ataxia-telangiectasia-like_disorder_1', 'Hereditary_cancer-predisposing_syndrome'] | GTTTTGTTTTGTTTTTGAGACGGAGTCTCTCTCTGTTGCTAGGGTAGAGTCCAATGGCATGATCTTGGCTCACTGCAACCTCCAGTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTGATTTTTGTATTTTTAGTAGAGACCGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACTGTGCCTGGCCTATAAAACATGATTTTAAAAGCTTA... | GTTTTGTTTTGTTTTTGAGACGGAGTCTCTCTCTGTTGCTAGGGTAGAGTCCAATGGCATGATCTTGGCTCACTGCAACCTCCAGTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTGATTTTTGTATTTTTAGTAGAGACCGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACTGTGCCTGGCCTATAAAACATGATTTTAAAAGCTTA... | pathogenic | 182,107 |
Is the genetic mutation found on chromosome 11 at position 94447447, within the gene MRE11 (MRE11 homolog, double strand break repair nuclease), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTGATTTTTGTATTTTTAGTAGAGACCGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACTGTGCCTGGCCTATAAAACATGATTTTAAAAGCTTACCCTCTTCAGTAACTCTAATGCATAGCAAAGATCTTTTAAAAAATAATTTATCCTGTGATCCTAATTGCCCTTATAACTTCCCAAT... | TCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTGATTTTTGTATTTTTAGTAGAGACCGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACTGTGCCTGGCCTATAAAACATGATTTTAAAAGCTTACCCTCTTCAGTAACTCTAATGCATAGCAAAGATCTTTTAAAAAATAATTTATCCTGTGATCCTAATTGCCCTTATAACTTCCCAAT... | benign | 182,110 |
Is the variant located on chromosome 11 at position 94456306, gene MRE11 (MRE11 homolog, double strand break repair nuclease), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Ataxia-telangiectasia-like_disorder_1', 'Hereditary_cancer-predisposing_syndrome'] | GAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGAGATCCACCTGCCTCGGCCTCCCAAAGTGCTGAAATTACAGGTAAGTCACAATGCCCAGCCTGAAAGACTTTAAAGCATACTGTTTTTTCTCCAAATAGAAGAGCTAATAGTCTTGTTTGTCAGTATAAGTAATTTAAGCATGGCGCTGGGATTCATATTCTAAGCCAAATGATTCTGCAAAGCTGTGAATTACAGCTTGGCAGAGTTTCAGACTCCATTACCTAAGTTCTAAATAGTATGCTGAAAATGAAAAAATATATAATATC... | GAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGAGATCCACCTGCCTCGGCCTCCCAAAGTGCTGAAATTACAGGTAAGTCACAATGCCCAGCCTGAAAGACTTTAAAGCATACTGTTTTTTCTCCAAATAGAAGAGCTAATAGTCTTGTTTGTCAGTATAAGTAATTTAAGCATGGCGCTGGGATTCATATTCTAAGCCAAATGATTCTGCAAAGCTGTGAATTACAGCTTGGCAGAGTTTCAGACTCCATTACCTAAGTTCTAAATAGTATGCTGAAAATGAAAAAATATATAATATC... | pathogenic | 182,113 |
Clinically, how would you classify the variant at chromosome 11, position 94456306, gene MRE11 (MRE11 homolog, double strand break repair nuclease): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGAGATCCACCTGCCTCGGCCTCCCAAAGTGCTGAAATTACAGGTAAGTCACAATGCCCAGCCTGAAAGACTTTAAAGCATACTGTTTTTTCTCCAAATAGAAGAGCTAATAGTCTTGTTTGTCAGTATAAGTAATTTAAGCATGGCGCTGGGATTCATATTCTAAGCCAAATGATTCTGCAAAGCTGTGAATTACAGCTTGGCAGAGTTTCAGACTCCATTACCTAAGTTCTAAATAGTATGCTGAAAATGAAAAAATATATAATATC... | GAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGAGATCCACCTGCCTCGGCCTCCCAAAGTGCTGAAATTACAGGTAAGTCACAATGCCCAGCCTGAAAGACTTTAAAGCATACTGTTTTTTCTCCAAATAGAAGAGCTAATAGTCTTGTTTGTCAGTATAAGTAATTTAAGCATGGCGCTGGGATTCATATTCTAAGCCAAATGATTCTGCAAAGCTGTGAATTACAGCTTGGCAGAGTTTCAGACTCCATTACCTAAGTTCTAAATAGTATGCTGAAAATGAAAAAATATATAATATC... | pathogenic | 182,114 |
A genetic alteration at chromosome 11, position 94459446, in gene MRE11 (MRE11 homolog, double strand break repair nuclease)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Ataxia-telangiectasia-like_disorder_1'] | AGAGGAACAGAGAGCAGTAGCTAAAGGAAAATGGGATCGAGAGTTTTGTTTGTTTCTTAAGCTGAAAGAAATAACAGCATGTTTGTTATGATTCAGTAGAGGAAAAATACAAGAATAACAATATTTTAAAAGATGAGACAGTATGTAATCGTGCCCTAGGTGATAAGTAGCATACCAAAGGTGCTAAGCCATTCACAGAAGAGAAATGAGAGTCAGAGTGGGAACACTGAACAGGCACTATGTGTCAGACAGTATTCTAAGGATTTTACATGGATTAATTCTTCTAATCCTTACAACAACCTTGAAGGAGGGCCTATTAT... | AGAGGAACAGAGAGCAGTAGCTAAAGGAAAATGGGATCGAGAGTTTTGTTTGTTTCTTAAGCTGAAAGAAATAACAGCATGTTTGTTATGATTCAGTAGAGGAAAAATACAAGAATAACAATATTTTAAAAGATGAGACAGTATGTAATCGTGCCCTAGGTGATAAGTAGCATACCAAAGGTGCTAAGCCATTCACAGAAGAGAAATGAGAGTCAGAGTGGGAACACTGAACAGGCACTATGTGTCAGACAGTATTCTAAGGATTTTACATGGATTAATTCTTCTAATCCTTACAACAACCTTGAAGGAGGGCCTATTAT... | pathogenic | 182,118 |
Gene mutation in MRE11 (MRE11 homolog, double strand break repair nuclease) at chromosome 11, position 94459462—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Hereditary_cancer-predisposing_syndrome'] | GTAGCTAAAGGAAAATGGGATCGAGAGTTTTGTTTGTTTCTTAAGCTGAAAGAAATAACAGCATGTTTGTTATGATTCAGTAGAGGAAAAATACAAGAATAACAATATTTTAAAAGATGAGACAGTATGTAATCGTGCCCTAGGTGATAAGTAGCATACCAAAGGTGCTAAGCCATTCACAGAAGAGAAATGAGAGTCAGAGTGGGAACACTGAACAGGCACTATGTGTCAGACAGTATTCTAAGGATTTTACATGGATTAATTCTTCTAATCCTTACAACAACCTTGAAGGAGGGCCTATTATCATCACCATTTTATCC... | GTAGCTAAAGGAAAATGGGATCGAGAGTTTTGTTTGTTTCTTAAGCTGAAAGAAATAACAGCATGTTTGTTATGATTCAGTAGAGGAAAAATACAAGAATAACAATATTTTAAAAGATGAGACAGTATGTAATCGTGCCCTAGGTGATAAGTAGCATACCAAAGGTGCTAAGCCATTCACAGAAGAGAAATGAGAGTCAGAGTGGGAACACTGAACAGGCACTATGTGTCAGACAGTATTCTAAGGATTTTACATGGATTAATTCTTCTAATCCTTACAACAACCTTGAAGGAGGGCCTATTATCATCACCATTTTATCC... | pathogenic | 182,121 |
Is the genetic mutation found on chromosome 11 at position 94459466, within the gene MRE11 (MRE11 homolog, double strand break repair nuclease), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia-like_disorder_1', 'Hereditary_cancer-predisposing_syndrome'] | CTAAAGGAAAATGGGATCGAGAGTTTTGTTTGTTTCTTAAGCTGAAAGAAATAACAGCATGTTTGTTATGATTCAGTAGAGGAAAAATACAAGAATAACAATATTTTAAAAGATGAGACAGTATGTAATCGTGCCCTAGGTGATAAGTAGCATACCAAAGGTGCTAAGCCATTCACAGAAGAGAAATGAGAGTCAGAGTGGGAACACTGAACAGGCACTATGTGTCAGACAGTATTCTAAGGATTTTACATGGATTAATTCTTCTAATCCTTACAACAACCTTGAAGGAGGGCCTATTATCATCACCATTTTATCCTCAG... | CTAAAGGAAAATGGGATCGAGAGTTTTGTTTGTTTCTTAAGCTGAAAGAAATAACAGCATGTTTGTTATGATTCAGTAGAGGAAAAATACAAGAATAACAATATTTTAAAAGATGAGACAGTATGTAATCGTGCCCTAGGTGATAAGTAGCATACCAAAGGTGCTAAGCCATTCACAGAAGAGAAATGAGAGTCAGAGTGGGAACACTGAACAGGCACTATGTGTCAGACAGTATTCTAAGGATTTTACATGGATTAATTCTTCTAATCCTTACAACAACCTTGAAGGAGGGCCTATTATCATCACCATTTTATCCTCAG... | pathogenic | 182,124 |
Variant at chromosome position 94459466, chromosome 11, gene MRE11 (MRE11 homolog, double strand break repair nuclease): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Ataxia-telangiectasia-like_disorder_1', 'Hereditary_cancer-predisposing_syndrome'] | CTAAAGGAAAATGGGATCGAGAGTTTTGTTTGTTTCTTAAGCTGAAAGAAATAACAGCATGTTTGTTATGATTCAGTAGAGGAAAAATACAAGAATAACAATATTTTAAAAGATGAGACAGTATGTAATCGTGCCCTAGGTGATAAGTAGCATACCAAAGGTGCTAAGCCATTCACAGAAGAGAAATGAGAGTCAGAGTGGGAACACTGAACAGGCACTATGTGTCAGACAGTATTCTAAGGATTTTACATGGATTAATTCTTCTAATCCTTACAACAACCTTGAAGGAGGGCCTATTATCATCACCATTTTATCCTCAG... | CTAAAGGAAAATGGGATCGAGAGTTTTGTTTGTTTCTTAAGCTGAAAGAAATAACAGCATGTTTGTTATGATTCAGTAGAGGAAAAATACAAGAATAACAATATTTTAAAAGATGAGACAGTATGTAATCGTGCCCTAGGTGATAAGTAGCATACCAAAGGTGCTAAGCCATTCACAGAAGAGAAATGAGAGTCAGAGTGGGAACACTGAACAGGCACTATGTGTCAGACAGTATTCTAAGGATTTTACATGGATTAATTCTTCTAATCCTTACAACAACCTTGAAGGAGGGCCTATTATCATCACCATTTTATCCTCAG... | pathogenic | 182,125 |
Classify the chromosome 11 variant at position 94460981 affecting gene MRE11 (MRE11 homolog, double strand break repair nuclease) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Ataxia-telangiectasia-like_disorder_1'] | ATATTTTCATGTCAATATCTTTTAATTTTGTTTTTTGACAATGTGATATGCAAACATTTATAATTTCTATGTAGTCAAGTCTAGACAGCTTTTCCTGTAATTTTTCCACTGCTTCTTGCTTAGCAGAAATTTTCTAAATGAAATTCAAGATCTCAATCAAAACTTACTAAAAAAATTAAAATGAACAAAAATTACCATCCTACAAGGTTCACTTTAAAGCCCTTTCAAAGGATCTTTAAGAGAAGATACTATCCATGGGGAACAAAACACTTTAGTACCAACCATATGCAAGACTCTGTTCTAGGCATTTTCTACATTTT... | ATATTTTCATGTCAATATCTTTTAATTTTGTTTTTTGACAATGTGATATGCAAACATTTATAATTTCTATGTAGTCAAGTCTAGACAGCTTTTCCTGTAATTTTTCCACTGCTTCTTGCTTAGCAGAAATTTTCTAAATGAAATTCAAGATCTCAATCAAAACTTACTAAAAAAATTAAAATGAACAAAAATTACCATCCTACAAGGTTCACTTTAAAGCCCTTTCAAAGGATCTTTAAGAGAAGATACTATCCATGGGGAACAAAACACTTTAGTACCAACCATATGCAAGACTCTGTTCTAGGCATTTTCTACATTTT... | pathogenic | 182,148 |
Assess the variant on chromosome 11, position 94461009, impacting MRE11 (MRE11 homolog, double strand break repair nuclease): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ataxia-telangiectasia-like_disorder_1', 'Hereditary_cancer-predisposing_syndrome'] | TGTTTTTTGACAATGTGATATGCAAACATTTATAATTTCTATGTAGTCAAGTCTAGACAGCTTTTCCTGTAATTTTTCCACTGCTTCTTGCTTAGCAGAAATTTTCTAAATGAAATTCAAGATCTCAATCAAAACTTACTAAAAAAATTAAAATGAACAAAAATTACCATCCTACAAGGTTCACTTTAAAGCCCTTTCAAAGGATCTTTAAGAGAAGATACTATCCATGGGGAACAAAACACTTTAGTACCAACCATATGCAAGACTCTGTTCTAGGCATTTTCTACATTTTCTAATTTAACCTTCATTTTATCATTTCA... | TGTTTTTTGACAATGTGATATGCAAACATTTATAATTTCTATGTAGTCAAGTCTAGACAGCTTTTCCTGTAATTTTTCCACTGCTTCTTGCTTAGCAGAAATTTTCTAAATGAAATTCAAGATCTCAATCAAAACTTACTAAAAAAATTAAAATGAACAAAAATTACCATCCTACAAGGTTCACTTTAAAGCCCTTTCAAAGGATCTTTAAGAGAAGATACTATCCATGGGGAACAAAACACTTTAGTACCAACCATATGCAAGACTCTGTTCTAGGCATTTTCTACATTTTCTAATTTAACCTTCATTTTATCATTTCA... | pathogenic | 182,151 |
Is the genetic mutation found on chromosome 11 at position 94464112, within the gene MRE11 (MRE11 homolog, double strand break repair nuclease), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Hereditary_cancer-predisposing_syndrome'] | GACTCTGTCTCAAAAAAATGAAAATAAAAACAAAATCAATGTGCAAAAATCACAGCATTCCTACACCAATAACAGACAAACAGAGAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAATTTACAAGGATATGAAGGTCCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAACAAATGGCAGAACGTTCCATGCTCATGGATAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCC... | GACTCTGTCTCAAAAAAATGAAAATAAAAACAAAATCAATGTGCAAAAATCACAGCATTCCTACACCAATAACAGACAAACAGAGAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAATTTACAAGGATATGAAGGTCCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAACAAATGGCAGAACGTTCCATGCTCATGGATAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCC... | pathogenic | 182,159 |
Determine if the mutation at chromosome 11, position 94464115 in gene MRE11 (MRE11 homolog, double strand break repair nuclease) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Ataxia-telangiectasia-like_disorder_1', 'Hereditary_cancer-predisposing_syndrome'] | TCTGTCTCAAAAAAATGAAAATAAAAACAAAATCAATGTGCAAAAATCACAGCATTCCTACACCAATAACAGACAAACAGAGAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAATTTACAAGGATATGAAGGTCCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAACAAATGGCAGAACGTTCCATGCTCATGGATAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCAT... | TCTGTCTCAAAAAAATGAAAATAAAAACAAAATCAATGTGCAAAAATCACAGCATTCCTACACCAATAACAGACAAACAGAGAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAATTTACAAGGATATGAAGGTCCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAACAAATGGCAGAACGTTCCATGCTCATGGATAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCAT... | pathogenic | 182,160 |
For chromosome 11, position 94464194, gene MRE11 (MRE11 homolog, double strand break repair nuclease): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Ataxia-telangiectasia-like_disorder_1', 'Hereditary_cancer-predisposing_syndrome'] | GAGAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAATTTACAAGGATATGAAGGTCCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAACAAATGGCAGAACGTTCCATGCTCATGGATAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAACAGAGCCCACATT... | GAGAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAATTTACAAGGATATGAAGGTCCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAACAAATGGCAGAACGTTCCATGCTCATGGATAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAACAGAGCCCACATT... | pathogenic | 182,168 |
Assess the variant on chromosome 11, position 94464202, impacting MRE11 (MRE11 homolog, double strand break repair nuclease): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ataxia-telangiectasia-like_disorder_1', 'Hereditary_cancer-predisposing_syndrome'] | AATCATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAATTTACAAGGATATGAAGGTCCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAACAAATGGCAGAACGTTCCATGCTCATGGATAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAACAGAGCCCACATTGCCAAGAC... | AATCATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAATTTACAAGGATATGAAGGTCCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAACAAATGGCAGAACGTTCCATGCTCATGGATAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAACAGAGCCCACATTGCCAAGAC... | pathogenic | 182,169 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 94464206, gene MRE11 (MRE11 homolog, double strand break repair nuclease). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Ataxia-telangiectasia-like_disorder_1', 'Breast_carcinoma'] | ATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAATTTACAAGGATATGAAGGTCCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAACAAATGGCAGAACGTTCCATGCTCATGGATAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAACAGAGCCCACATTGCCAAGACAATC... | ATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAATTTACAAGGATATGAAGGTCCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAACAAATGGCAGAACGTTCCATGCTCATGGATAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAACAGAGCCCACATTGCCAAGACAATC... | pathogenic | 182,170 |
Mutation found at chromosome 11 position 94464210, gene MRE11 (MRE11 homolog, double strand break repair nuclease): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Ataxia-telangiectasia-like_disorder_1'] | GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAATTTACAAGGATATGAAGGTCCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAACAAATGGCAGAACGTTCCATGCTCATGGATAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAACAGAGCCCACATTGCCAAGACAATCCTAA... | GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAATTTACAAGGATATGAAGGTCCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAACAAATGGCAGAACGTTCCATGCTCATGGATAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAACAGAGCCCACATTGCCAAGACAATCCTAA... | pathogenic | 182,172 |
Is the variant located on chromosome 11 at position 94464210, gene MRE11 (MRE11 homolog, double strand break repair nuclease), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Hereditary_cancer-predisposing_syndrome'] | GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAATTTACAAGGATATGAAGGTCCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAACAAATGGCAGAACGTTCCATGCTCATGGATAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAACAGAGCCCACATTGCCAAGACAATCCTAA... | GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAATTTACAAGGATATGAAGGTCCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAACAAATGGCAGAACGTTCCATGCTCATGGATAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAACAGAGCCCACATTGCCAAGACAATCCTAA... | pathogenic | 182,173 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 94464225, gene MRE11 (MRE11 homolog, double strand break repair nuclease): what disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Ataxia-telangiectasia-like_disorder_1'] | CAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAATTTACAAGGATATGAAGGTCCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAACAAATGGCAGAACGTTCCATGCTCATGGATAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAACAGAGCCCACATTGCCAAGACAATCCTAAGCAAAAAGATCAAAG... | CAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAATTTACAAGGATATGAAGGTCCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAACAAATGGCAGAACGTTCCATGCTCATGGATAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAACAGAGCCCACATTGCCAAGACAATCCTAAGCAAAAAGATCAAAG... | pathogenic | 182,174 |
Clinical significance of chromosome 11, position 94467862, gene MRE11 (MRE11 homolog, double strand break repair nuclease): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia-like_disorder'] | TGGATGTCCTCAATGTTCTAAGTATGCTGTTCAGGGCCAGGGATACAACCATAAATAAATACAATCTTGGCTGTCAAGAAATTCACAAACTGACTGGGAAGAAAAACATGTAAACAGATCACTGGAAGCAGACTGTGAGTGGTGCTATAAGAGGTATGTACAAAGTTGGATGAGGACACAAAGGAAGAAGCATGTTCTCTGTGGGCAGGTCAAGAAAGGCTTCTTTGAAGACAGAGGCTTTAGGTGGGTGCTGAAGAAGGTATAGAGAAAGGAGGAGAGAAGTATGTCCCACGCAACAGGATCAACATGGACAAAGGTTC... | TGGATGTCCTCAATGTTCTAAGTATGCTGTTCAGGGCCAGGGATACAACCATAAATAAATACAATCTTGGCTGTCAAGAAATTCACAAACTGACTGGGAAGAAAAACATGTAAACAGATCACTGGAAGCAGACTGTGAGTGGTGCTATAAGAGGTATGTACAAAGTTGGATGAGGACACAAAGGAAGAAGCATGTTCTCTGTGGGCAGGTCAAGAAAGGCTTCTTTGAAGACAGAGGCTTTAGGTGGGTGCTGAAGAAGGTATAGAGAAAGGAGGAGAGAAGTATGTCCCACGCAACAGGATCAACATGGACAAAGGTTC... | pathogenic | 182,189 |
Does the variant impacting MRE11 (MRE11 homolog, double strand break repair nuclease) on chromosome 11, position 94470548, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Ataxia-telangiectasia-like_disorder_1', 'Hereditary_cancer-predisposing_syndrome'] | ATCTCCAGATGGCCAACTTCATAGCTGAACAATTCTAGTTCTTAGAAAGTTCTTGTATTGGAACAAAAACTGCCTTCCTATAACTTGGTCCTGATCTCAAGAACAATACAGAACAAGTGTTTTTGTCCTCAGATTTCTTTCACATCTAAGACTTTATAATCTTGTCCTTTAAACTGTCTGTAACAATGAAGTCCAAAAGAGTTTTCTGCAATAATTTTTTCTATGTGCATATTCAATATGGTTGCCAAAACCATATGTGGATATAGAGTACTTGAAATGTGGCTAGTACAAGTGAGAAACTGAATTTTAAATTTAAATGT... | ATCTCCAGATGGCCAACTTCATAGCTGAACAATTCTAGTTCTTAGAAAGTTCTTGTATTGGAACAAAAACTGCCTTCCTATAACTTGGTCCTGATCTCAAGAACAATACAGAACAAGTGTTTTTGTCCTCAGATTTCTTTCACATCTAAGACTTTATAATCTTGTCCTTTAAACTGTCTGTAACAATGAAGTCCAAAAGAGTTTTCTGCAATAATTTTTTCTATGTGCATATTCAATATGGTTGCCAAAACCATATGTGGATATAGAGTACTTGAAATGTGGCTAGTACAAGTGAGAAACTGAATTTTAAATTTAAATGT... | pathogenic | 182,199 |
Gene MRE11 (MRE11 homolog, double strand break repair nuclease) variant at chromosome position 94470564 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia-like_disorder_1', 'Hereditary_cancer-predisposing_syndrome'] | CTTCATAGCTGAACAATTCTAGTTCTTAGAAAGTTCTTGTATTGGAACAAAAACTGCCTTCCTATAACTTGGTCCTGATCTCAAGAACAATACAGAACAAGTGTTTTTGTCCTCAGATTTCTTTCACATCTAAGACTTTATAATCTTGTCCTTTAAACTGTCTGTAACAATGAAGTCCAAAAGAGTTTTCTGCAATAATTTTTTCTATGTGCATATTCAATATGGTTGCCAAAACCATATGTGGATATAGAGTACTTGAAATGTGGCTAGTACAAGTGAGAAACTGAATTTTAAATTTAAATGTAAATAATTAAATGTAA... | CTTCATAGCTGAACAATTCTAGTTCTTAGAAAGTTCTTGTATTGGAACAAAAACTGCCTTCCTATAACTTGGTCCTGATCTCAAGAACAATACAGAACAAGTGTTTTTGTCCTCAGATTTCTTTCACATCTAAGACTTTATAATCTTGTCCTTTAAACTGTCTGTAACAATGAAGTCCAAAAGAGTTTTCTGCAATAATTTTTTCTATGTGCATATTCAATATGGTTGCCAAAACCATATGTGGATATAGAGTACTTGAAATGTGGCTAGTACAAGTGAGAAACTGAATTTTAAATTTAAATGTAAATAATTAAATGTAA... | pathogenic | 182,202 |
Does the genetic variant at chromosome 11, position 94471596, impacting gene MRE11 (MRE11 homolog, double strand break repair nuclease), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AATCTATGTTTGAGTTTCTAGAGTCAATCATCTTGAAACAAGCGTACACTTTTGGTTACGTGAGCTACACACTGCTCAAAAAGCTGTGACACTGAATGAGTCACCTTATCTAAGGTTCAGTTCCTCTAAACTATAGATGGTAGAAACTACTCACATATAGTATTGTTGGCTAGATTAAATGCTGTCAACAGTGCACATCACATACAGTAAATCAGTAAGTATCACTGGTCATAATTATTATCATTGTTACTATGTTACCTGATTTTTCATGAAAAGAAAACATAGTAGGACAGCTGACACAGAGTTAAGAACTGAGCGTC... | AATCTATGTTTGAGTTTCTAGAGTCAATCATCTTGAAACAAGCGTACACTTTTGGTTACGTGAGCTACACACTGCTCAAAAAGCTGTGACACTGAATGAGTCACCTTATCTAAGGTTCAGTTCCTCTAAACTATAGATGGTAGAAACTACTCACATATAGTATTGTTGGCTAGATTAAATGCTGTCAACAGTGCACATCACATACAGTAAATCAGTAAGTATCACTGGTCATAATTATTATCATTGTTACTATGTTACCTGATTTTTCATGAAAAGAAAACATAGTAGGACAGCTGACACAGAGTTAAGAACTGAGCGTC... | pathogenic | 182,219 |
Variant on chromosome 11, at position 94471597, affecting MRE11 (MRE11 homolog, double strand break repair nuclease): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Ataxia-telangiectasia-like_disorder_1', 'Hereditary_cancer-predisposing_syndrome'] | ATCTATGTTTGAGTTTCTAGAGTCAATCATCTTGAAACAAGCGTACACTTTTGGTTACGTGAGCTACACACTGCTCAAAAAGCTGTGACACTGAATGAGTCACCTTATCTAAGGTTCAGTTCCTCTAAACTATAGATGGTAGAAACTACTCACATATAGTATTGTTGGCTAGATTAAATGCTGTCAACAGTGCACATCACATACAGTAAATCAGTAAGTATCACTGGTCATAATTATTATCATTGTTACTATGTTACCTGATTTTTCATGAAAAGAAAACATAGTAGGACAGCTGACACAGAGTTAAGAACTGAGCGTCA... | ATCTATGTTTGAGTTTCTAGAGTCAATCATCTTGAAACAAGCGTACACTTTTGGTTACGTGAGCTACACACTGCTCAAAAAGCTGTGACACTGAATGAGTCACCTTATCTAAGGTTCAGTTCCTCTAAACTATAGATGGTAGAAACTACTCACATATAGTATTGTTGGCTAGATTAAATGCTGTCAACAGTGCACATCACATACAGTAAATCAGTAAGTATCACTGGTCATAATTATTATCATTGTTACTATGTTACCTGATTTTTCATGAAAAGAAAACATAGTAGGACAGCTGACACAGAGTTAAGAACTGAGCGTCA... | pathogenic | 182,220 |
Considering the genetic mutation at chromosome 11, position 94471634, impacting MRE11 (MRE11 homolog, double strand break repair nuclease): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Ataxia-telangiectasia-like_disorder_1', 'Hereditary_cancer-predisposing_syndrome'] | CAAGCGTACACTTTTGGTTACGTGAGCTACACACTGCTCAAAAAGCTGTGACACTGAATGAGTCACCTTATCTAAGGTTCAGTTCCTCTAAACTATAGATGGTAGAAACTACTCACATATAGTATTGTTGGCTAGATTAAATGCTGTCAACAGTGCACATCACATACAGTAAATCAGTAAGTATCACTGGTCATAATTATTATCATTGTTACTATGTTACCTGATTTTTCATGAAAAGAAAACATAGTAGGACAGCTGACACAGAGTTAAGAACTGAGCGTCAGCAAGTGATGCTAATTAAGCTGTCAAACCACATATTA... | CAAGCGTACACTTTTGGTTACGTGAGCTACACACTGCTCAAAAAGCTGTGACACTGAATGAGTCACCTTATCTAAGGTTCAGTTCCTCTAAACTATAGATGGTAGAAACTACTCACATATAGTATTGTTGGCTAGATTAAATGCTGTCAACAGTGCACATCACATACAGTAAATCAGTAAGTATCACTGGTCATAATTATTATCATTGTTACTATGTTACCTGATTTTTCATGAAAAGAAAACATAGTAGGACAGCTGACACAGAGTTAAGAACTGAGCGTCAGCAAGTGATGCTAATTAAGCTGTCAAACCACATATTA... | pathogenic | 182,226 |
Is chromosome 11, position 94471679, gene MRE11 (MRE11 homolog, double strand break repair nuclease) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Hereditary_cancer-predisposing_syndrome'] | CTGTGACACTGAATGAGTCACCTTATCTAAGGTTCAGTTCCTCTAAACTATAGATGGTAGAAACTACTCACATATAGTATTGTTGGCTAGATTAAATGCTGTCAACAGTGCACATCACATACAGTAAATCAGTAAGTATCACTGGTCATAATTATTATCATTGTTACTATGTTACCTGATTTTTCATGAAAAGAAAACATAGTAGGACAGCTGACACAGAGTTAAGAACTGAGCGTCAGCAAGTGATGCTAATTAAGCTGTCAAACCACATATTATTAAATGCATTAATCCACCCAACCTTAGTAGTGGCTGAAATTTTC... | CTGTGACACTGAATGAGTCACCTTATCTAAGGTTCAGTTCCTCTAAACTATAGATGGTAGAAACTACTCACATATAGTATTGTTGGCTAGATTAAATGCTGTCAACAGTGCACATCACATACAGTAAATCAGTAAGTATCACTGGTCATAATTATTATCATTGTTACTATGTTACCTGATTTTTCATGAAAAGAAAACATAGTAGGACAGCTGACACAGAGTTAAGAACTGAGCGTCAGCAAGTGATGCTAATTAAGCTGTCAAACCACATATTATTAAATGCATTAATCCACCCAACCTTAGTAGTGGCTGAAATTTTC... | pathogenic | 182,230 |
Assess the variant on chromosome 11, position 94478767, impacting MRE11 (MRE11 homolog, double strand break repair nuclease): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Ataxia-telangiectasia-like_disorder_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTTCTTTTCTTTTCTTTTCTAAACACAGTCTTGCTCCATTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTTCACCTCCTGGGTTCAAGGGATTCTTGTGCCTCAGCCTCCTGAGTTGCTGGGATTACAGCATGCACCACCACGTCTGGCTAATTTTTGCACTTTTAGTAGAGATGGGGTTTTGCCACGTTGGACAGGCTGGTCTTGAACTCCGGACCTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGCTGAAATTACAGGCGTGTGCCAGCACGCCTGGCCTGTTCCAGGTTCTTGATAA... | TTTTCTTTTCTTTTCTTTTCTAAACACAGTCTTGCTCCATTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTTCACCTCCTGGGTTCAAGGGATTCTTGTGCCTCAGCCTCCTGAGTTGCTGGGATTACAGCATGCACCACCACGTCTGGCTAATTTTTGCACTTTTAGTAGAGATGGGGTTTTGCCACGTTGGACAGGCTGGTCTTGAACTCCGGACCTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGCTGAAATTACAGGCGTGTGCCAGCACGCCTGGCCTGTTCCAGGTTCTTGATAA... | pathogenic | 182,258 |
Does the chromosome 11 mutation at position 94478782 within gene MRE11 (MRE11 homolog, double strand break repair nuclease) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Hereditary_cancer-predisposing_syndrome'] | TTTTCTAAACACAGTCTTGCTCCATTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTTCACCTCCTGGGTTCAAGGGATTCTTGTGCCTCAGCCTCCTGAGTTGCTGGGATTACAGCATGCACCACCACGTCTGGCTAATTTTTGCACTTTTAGTAGAGATGGGGTTTTGCCACGTTGGACAGGCTGGTCTTGAACTCCGGACCTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGCTGAAATTACAGGCGTGTGCCAGCACGCCTGGCCTGTTCCAGGTTCTTGATAACAGTAGTTAGTTGCA... | TTTTCTAAACACAGTCTTGCTCCATTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTTCACCTCCTGGGTTCAAGGGATTCTTGTGCCTCAGCCTCCTGAGTTGCTGGGATTACAGCATGCACCACCACGTCTGGCTAATTTTTGCACTTTTAGTAGAGATGGGGTTTTGCCACGTTGGACAGGCTGGTCTTGAACTCCGGACCTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGCTGAAATTACAGGCGTGTGCCAGCACGCCTGGCCTGTTCCAGGTTCTTGATAACAGTAGTTAGTTGCA... | pathogenic | 182,262 |
Regarding the variant found on chromosome 11 at position 94479671 in gene MRE11 (MRE11 homolog, double strand break repair nuclease): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Hereditary_cancer-predisposing_syndrome'] | GAATGTAGAACATGTAACTGGAGACAAAAAAGTCAAGGCACACAAAGCCCAAGGCATTAGAAGATTAATCTACTTGAGTGTTGAAACACTAAAAACACTGGCAAAATTGAAGGTAGGTAAGTAGGTAAAAAGTCTGAGAGAAAAAGCAATGCGGTTTAGCCAGATGGCAGAAGCTTAAAGGGAACAGTGTGTTTGCAGGCAGAAAAGGAAGCAGTGGGTGGAGCAAGGAGAACAGTGATCCCCGCTTCTTTCCAAAAGCCCAGGGGTAAGAGAACTGCATGGGACACAGGAACCTCAGGGGACAGCTGGGCTTCACTGAA... | GAATGTAGAACATGTAACTGGAGACAAAAAAGTCAAGGCACACAAAGCCCAAGGCATTAGAAGATTAATCTACTTGAGTGTTGAAACACTAAAAACACTGGCAAAATTGAAGGTAGGTAAGTAGGTAAAAAGTCTGAGAGAAAAAGCAATGCGGTTTAGCCAGATGGCAGAAGCTTAAAGGGAACAGTGTGTTTGCAGGCAGAAAAGGAAGCAGTGGGTGGAGCAAGGAGAACAGTGATCCCCGCTTCTTTCCAAAAGCCCAGGGGTAAGAGAACTGCATGGGACACAGGAACCTCAGGGGACAGCTGGGCTTCACTGAA... | pathogenic | 182,279 |
Chromosome 11, position 94479764, gene MRE11 (MRE11 homolog, double strand break repair nuclease): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AACACTGGCAAAATTGAAGGTAGGTAAGTAGGTAAAAAGTCTGAGAGAAAAAGCAATGCGGTTTAGCCAGATGGCAGAAGCTTAAAGGGAACAGTGTGTTTGCAGGCAGAAAAGGAAGCAGTGGGTGGAGCAAGGAGAACAGTGATCCCCGCTTCTTTCCAAAAGCCCAGGGGTAAGAGAACTGCATGGGACACAGGAACCTCAGGGGACAGCTGGGCTTCACTGAAGGTTAGAAAGTGGAGGTAACATTCAGAGAAGAGACTGATAATAATGAGGAATCTGATAATTATAAAAAGAGTTCTAGAGTTTATAATGAAGAG... | AACACTGGCAAAATTGAAGGTAGGTAAGTAGGTAAAAAGTCTGAGAGAAAAAGCAATGCGGTTTAGCCAGATGGCAGAAGCTTAAAGGGAACAGTGTGTTTGCAGGCAGAAAAGGAAGCAGTGGGTGGAGCAAGGAGAACAGTGATCCCCGCTTCTTTCCAAAAGCCCAGGGGTAAGAGAACTGCATGGGACACAGGAACCTCAGGGGACAGCTGGGCTTCACTGAAGGTTAGAAAGTGGAGGTAACATTCAGAGAAGAGACTGATAATAATGAGGAATCTGATAATTATAAAAAGAGTTCTAGAGTTTATAATGAAGAG... | benign | 182,291 |
Variant in MRE11 (MRE11 homolog, double strand break repair nuclease), chromosome 11, position 94479764—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AACACTGGCAAAATTGAAGGTAGGTAAGTAGGTAAAAAGTCTGAGAGAAAAAGCAATGCGGTTTAGCCAGATGGCAGAAGCTTAAAGGGAACAGTGTGTTTGCAGGCAGAAAAGGAAGCAGTGGGTGGAGCAAGGAGAACAGTGATCCCCGCTTCTTTCCAAAAGCCCAGGGGTAAGAGAACTGCATGGGACACAGGAACCTCAGGGGACAGCTGGGCTTCACTGAAGGTTAGAAAGTGGAGGTAACATTCAGAGAAGAGACTGATAATAATGAGGAATCTGATAATTATAAAAAGAGTTCTAGAGTTTATAATGAAGAG... | AACACTGGCAAAATTGAAGGTAGGTAAGTAGGTAAAAAGTCTGAGAGAAAAAGCAATGCGGTTTAGCCAGATGGCAGAAGCTTAAAGGGAACAGTGTGTTTGCAGGCAGAAAAGGAAGCAGTGGGTGGAGCAAGGAGAACAGTGATCCCCGCTTCTTTCCAAAAGCCCAGGGGTAAGAGAACTGCATGGGACACAGGAACCTCAGGGGACAGCTGGGCTTCACTGAAGGTTAGAAAGTGGAGGTAACATTCAGAGAAGAGACTGATAATAATGAGGAATCTGATAATTATAAAAAGAGTTCTAGAGTTTATAATGAAGAG... | benign | 182,292 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 94479764, gene MRE11 (MRE11 homolog, double strand break repair nuclease). What disease(s) is it linked to if pathogenic? | benign | AACACTGGCAAAATTGAAGGTAGGTAAGTAGGTAAAAAGTCTGAGAGAAAAAGCAATGCGGTTTAGCCAGATGGCAGAAGCTTAAAGGGAACAGTGTGTTTGCAGGCAGAAAAGGAAGCAGTGGGTGGAGCAAGGAGAACAGTGATCCCCGCTTCTTTCCAAAAGCCCAGGGGTAAGAGAACTGCATGGGACACAGGAACCTCAGGGGACAGCTGGGCTTCACTGAAGGTTAGAAAGTGGAGGTAACATTCAGAGAAGAGACTGATAATAATGAGGAATCTGATAATTATAAAAAGAGTTCTAGAGTTTATAATGAAGAG... | AACACTGGCAAAATTGAAGGTAGGTAAGTAGGTAAAAAGTCTGAGAGAAAAAGCAATGCGGTTTAGCCAGATGGCAGAAGCTTAAAGGGAACAGTGTGTTTGCAGGCAGAAAAGGAAGCAGTGGGTGGAGCAAGGAGAACAGTGATCCCCGCTTCTTTCCAAAAGCCCAGGGGTAAGAGAACTGCATGGGACACAGGAACCTCAGGGGACAGCTGGGCTTCACTGAAGGTTAGAAAGTGGAGGTAACATTCAGAGAAGAGACTGATAATAATGAGGAATCTGATAATTATAAAAAGAGTTCTAGAGTTTATAATGAAGAG... | benign | 182,293 |
Chromosome 11, position 94485939, gene MRE11 (MRE11 homolog, double strand break repair nuclease): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Ataxia-telangiectasia-like_disorder_1', 'Hereditary_cancer-predisposing_syndrome'] | TGTCTATTCTCATGGGTTAGTATGTACACATATTTTTCTTAGCTCTGTCCAGTGAGAGCCTAGAAGCAACAATACAATAGTAATGTGCACATGTAACATCCAGATCTTGGTTTCCAAATACCATTCTCCAAAAGGAACCAGGGTTCCTTGAAGAAATGGCTGAGTCTGAAGACAAGAAAGACAAAGTAAAAAATCAGAAGAAAAGGTGGGATATATCAAAAGGATACAGGAGCCAATCTCAAAAGGAGCCCAATGGCTAAAGCTGGAACAATTTAAGCCACAAGTAAATTATGATAGTAATAAATTATAACCCAAAGGAA... | TGTCTATTCTCATGGGTTAGTATGTACACATATTTTTCTTAGCTCTGTCCAGTGAGAGCCTAGAAGCAACAATACAATAGTAATGTGCACATGTAACATCCAGATCTTGGTTTCCAAATACCATTCTCCAAAAGGAACCAGGGTTCCTTGAAGAAATGGCTGAGTCTGAAGACAAGAAAGACAAAGTAAAAAATCAGAAGAAAAGGTGGGATATATCAAAAGGATACAGGAGCCAATCTCAAAAGGAGCCCAATGGCTAAAGCTGGAACAATTTAAGCCACAAGTAAATTATGATAGTAATAAATTATAACCCAAAGGAA... | pathogenic | 182,300 |
For chromosome 11, position 94486070, gene MRE11 (MRE11 homolog, double strand break repair nuclease): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Ataxia-telangiectasia-like_disorder', 'Hereditary_cancer-predisposing_syndrome'] | AAGGAACCAGGGTTCCTTGAAGAAATGGCTGAGTCTGAAGACAAGAAAGACAAAGTAAAAAATCAGAAGAAAAGGTGGGATATATCAAAAGGATACAGGAGCCAATCTCAAAAGGAGCCCAATGGCTAAAGCTGGAACAATTTAAGCCACAAGTAAATTATGATAGTAATAAATTATAACCCAAAGGAAAAAAAAATGGGTTTCTACTGATATAGACAATTGAATAAACAAATGTGGGACAAGGGACAAATCTTCCTTACAAAAGAATCCCAATTAATACATGTAGAAAGAATATAGGAAATGGAAAATCACAATTAGAA... | AAGGAACCAGGGTTCCTTGAAGAAATGGCTGAGTCTGAAGACAAGAAAGACAAAGTAAAAAATCAGAAGAAAAGGTGGGATATATCAAAAGGATACAGGAGCCAATCTCAAAAGGAGCCCAATGGCTAAAGCTGGAACAATTTAAGCCACAAGTAAATTATGATAGTAATAAATTATAACCCAAAGGAAAAAAAAATGGGTTTCTACTGATATAGACAATTGAATAAACAAATGTGGGACAAGGGACAAATCTTCCTTACAAAAGAATCCCAATTAATACATGTAGAAAGAATATAGGAAATGGAAAATCACAATTAGAA... | pathogenic | 182,319 |
Variant in gene MRE11 (MRE11 homolog, double strand break repair nuclease), located at chromosome 11 position 94490976: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CCCTGAACCTAAAATAAAAGAAAGAATCCAGCCATTGCCTCACTTAATTAAGAAATTTAAAATATGTATACCCACTGCTTTCTGATTCTTTCTAAGCACTAAGATACAGCATGAACAAACAAAAGATTTCCACTCTCATGGAGTTTTCCTTCTAGTGAAGACAACAGACAATAAACAAGTAAATAATTCAATAAATTATTTCAGATAGTGCTATTAAAAATATGCTATGAAAAAAAGCAGAGTAATGTGATAAAACAGTGCTTGGAAGTATCAGGGAAGACGTCTCCAAAAAGGTAAGACTTGAACTCTCAGAAGTCGGC... | CCCTGAACCTAAAATAAAAGAAAGAATCCAGCCATTGCCTCACTTAATTAAGAAATTTAAAATATGTATACCCACTGCTTTCTGATTCTTTCTAAGCACTAAGATACAGCATGAACAAACAAAAGATTTCCACTCTCATGGAGTTTTCCTTCTAGTGAAGACAACAGACAATAAACAAGTAAATAATTCAATAAATTATTTCAGATAGTGCTATTAAAAATATGCTATGAAAAAAAGCAGAGTAATGTGATAAAACAGTGCTTGGAAGTATCAGGGAAGACGTCTCCAAAAAGGTAAGACTTGAACTCTCAGAAGTCGGC... | benign | 182,334 |
Variant in gene CEP57 (centrosomal protein 57), located at chromosome 11 position 95827811: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Mosaic_variegated_aneuploidy_syndrome_1', 'Mosaic_variegated_aneuploidy_syndrome_2'] | TTTTTGTATTTTTTTAGTAAAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAAATCCTGACCTTAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTCTGTAATCCCACTGTAATCCCAGTGGCTGAGCCACTGCGCCCAGCCTGCTTTTGACTTTTACGACATCGACCCTTCTATGATACATCACTGAAACTAAAACAAATGGTGGAAGAATTGGTATCTCATAGAAACATTTTTAGAGAAATGAAAAAGCAGAAAAGTCAAGACAAATTATAGTGTATTTCTGTAAAGTTACACAGAATGTGCTAG... | TTTTTGTATTTTTTTAGTAAAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAAATCCTGACCTTAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTCTGTAATCCCACTGTAATCCCAGTGGCTGAGCCACTGCGCCCAGCCTGCTTTTGACTTTTACGACATCGACCCTTCTATGATACATCACTGAAACTAAAACAAATGGTGGAAGAATTGGTATCTCATAGAAACATTTTTAGAGAAATGAAAAAGCAGAAAAGTCAAGACAAATTATAGTGTATTTCTGTAAAGTTACACAGAATGTGCTAG... | pathogenic | 182,396 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 95835336, gene MTMR2 (myotubularin related protein 2): what disease(s) if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Inborn_genetic_diseases'] | TGGTCTCTAAATTTTGTAACCCTAATCAAAAAGGGAAAAAATTACACCTGCACAACCAATAGACATACAAAGTTATGAAACATGTAACTGTCAATTCAAATATTTAAAAGTTTTGCTTGTGTAAATATATAAAAAGGGCTAGTATTCCTCCTCCCTCCCTCCCACACACACCAGTGGTATATATTAAATGCCCAAGTGCATGTACTCCATATTGGAGACTTCTGCAGAAGGTGAGGGGAACCACTGGAAGGTTCTCAGCAGAGAAGTGGTAGGGTTGCACTTAGATTTCCCTGGCTTTTGATTTGAATTTGAAGTGGATG... | TGGTCTCTAAATTTTGTAACCCTAATCAAAAAGGGAAAAAATTACACCTGCACAACCAATAGACATACAAAGTTATGAAACATGTAACTGTCAATTCAAATATTTAAAAGTTTTGCTTGTGTAAATATATAAAAAGGGCTAGTATTCCTCCTCCCTCCCTCCCACACACACCAGTGGTATATATTAAATGCCCAAGTGCATGTACTCCATATTGGAGACTTCTGCAGAAGGTGAGGGGAACCACTGGAAGGTTCTCAGCAGAGAAGTGGTAGGGTTGCACTTAGATTTCCCTGGCTTTTGATTTGAATTTGAAGTGGATG... | pathogenic | 182,424 |
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