question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Gene TBC1D24 (TBC1 domain family member 24) variant at chromosome position 2500824 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_65', 'Caused_by_mutation_in_the_TBC1_domain_family,_member_24', 'Developmental_and_epileptic_encephalopathy,_1'] | TGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCC... | TGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCC... | pathogenic | 245,418 |
Does the variant impacting SRRM2 (serine/arginine repetitive matrix 2) on chromosome 16, position 2759621, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GGCCAGCGTGAGTGTTGCGCTCTCCCTCGATGACTCTGGACTCTACTCTGGCTGCTGGCTGCTGCTGCTGTCCTTTTCCTTACGTGGGACTTCCTCCCTGCTTTCGTCTGCCTTTCCCATGCCTTATTTGGCTCCTGCTTATACTTGTGTTCTGAATATGGCTCTGTCCTTTATATTTCCTTCAGACTTTTGCCCTTCTTTTCTCTAGGGTCACGGAGACTCACCAGTTGGCAGAATTAAATGAGAAGAAGAATGAAAGACTCCGTGCTGCCTTTGGCATCAGTGATTCTTACGTAGATGGCAGCTCTTTTGATCCTCAG... | GGCCAGCGTGAGTGTTGCGCTCTCCCTCGATGACTCTGGACTCTACTCTGGCTGCTGGCTGCTGCTGCTGTCCTTTTCCTTACGTGGGACTTCCTCCCTGCTTTCGTCTGCCTTTCCCATGCCTTATTTGGCTCCTGCTTATACTTGTGTTCTGAATATGGCTCTGTCCTTTATATTTCCTTCAGACTTTTGCCCTTCTTTTCTCTAGGGTCACGGAGACTCACCAGTTGGCAGAATTAAATGAGAAGAAGAATGAAAGACTCCGTGCTGCCTTTGGCATCAGTGATTCTTACGTAGATGGCAGCTCTTTTGATCCTCAG... | benign | 245,434 |
Is the variant located on chromosome 16 at position 2769117, gene SRRM2 (serine/arginine repetitive matrix 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | ATTGCACTTGCCCTGACAGCTATCAGTCTTGGCACCGCTCGGCCTCCTCCGTCCATGTCTGCTGCTGGCCTTGCTGCAAGAATGTCCCAGGTTCCAGCCCCGGTGCCTCTCATGAGTCTCAGAACCGCACCAGCAGCCAACCTTGCCAGCAGGATTCCTGCAGCCTCTGCGGCAGCCATGAACCTAGCCAGCGCCAGGACACCTGCCATTCCAACAGCAGTGAACCTGGCTGACTCTCGAACGCCAGCTGCAGCAGCGGCCATGAACTTGGCCAGCCCCAGAACAGCGGTGGCACCTTCGGCTGTGAACCTGGCTGACCC... | ATTGCACTTGCCCTGACAGCTATCAGTCTTGGCACCGCTCGGCCTCCTCCGTCCATGTCTGCTGCTGGCCTTGCTGCAAGAATGTCCCAGGTTCCAGCCCCGGTGCCTCTCATGAGTCTCAGAACCGCACCAGCAGCCAACCTTGCCAGCAGGATTCCTGCAGCCTCTGCGGCAGCCATGAACCTAGCCAGCGCCAGGACACCTGCCATTCCAACAGCAGTGAACCTGGCTGACTCTCGAACGCCAGCTGCAGCAGCGGCCATGAACTTGGCCAGCCCCAGAACAGCGGTGGCACCTTCGGCTGTGAACCTGGCTGACCC... | benign | 245,462 |
A genetic variant on chromosome 16, position 3026268, affects the gene THOC6 (THO complex subunit 6). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['THOC6-related_disorder'] | TTCGCGCCGAAGGCGGTAGGGCGCCACGGAGAGGAACCGCTCTAGGCACGTAAGGCCTCGTGAGGTTGCGTCGCGCGCGGAGCACTCTGGGACTTGTAGTTCTGGAGATGGAGCGAGCTGTGCCGCTCGCGGTGCCTCTGGGTCAGGTGAGACGGACGTGGTGCGCGTTGCCTTCTGGGGTTTGTAGTTCACGCATGGCTGGGACGGGGCGGGCAGGGAATCGTGCCCTGAGCCCTGTTTTGCCTGGGCTATTTGTGGGACTCAGACTCTGACCAGGGGGGCGGGATAGTAACCCAGAAGTGCTTCAGGGGCTTAACGCA... | TTCGCGCCGAAGGCGGTAGGGCGCCACGGAGAGGAACCGCTCTAGGCACGTAAGGCCTCGTGAGGTTGCGTCGCGCGCGGAGCACTCTGGGACTTGTAGTTCTGGAGATGGAGCGAGCTGTGCCGCTCGCGGTGCCTCTGGGTCAGGTGAGACGGACGTGGTGCGCGTTGCCTTCTGGGGTTTGTAGTTCACGCATGGCTGGGACGGGGCGGGCAGGGAATCGTGCCCTGAGCCCTGTTTTGCCTGGGCTATTTGTGGGACTCAGACTCTGACCAGGGGGGCGGGATAGTAACCCAGAAGTGCTTCAGGGGCTTAACGCA... | pathogenic | 245,475 |
Considering the variant on chromosome 16, location 3243408, involving gene MEFV, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autoinflammatory_syndrome', 'Familial_Mediterranean_fever', 'Familial_Mediterranean_fever,_autosomal_dominant'] | GTCATGTGAACTGTCCTGGGATGTGGATTACTCTTATAGAATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATT... | GTCATGTGAACTGTCCTGGGATGTGGATTACTCTTATAGAATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATT... | pathogenic | 245,512 |
Variant at chromosome 16, position 3244154, gene MEFV: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACT... | TAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACT... | benign | 245,523 |
Clinical significance of chromosome 16, position 3582617, gene SLX4 (SLX4 structure-specific endonuclease subunit): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia'] | ATCTCAGCCTCTCAAATTGTTCGCCCCGGGCACCGTAAGCTGGGAGGCCTGGGCCTCTCCGCTGGTTCACGTGCCAGGACATAGTATGTGCGCCAGAAATCACATTTCACCCCCTAAATGCTGCTGAGCCCTAAGATGCAGCTCACAAACCCCTCTTCTGGGAGGCTGTCCCTGACACGGCCCTTCAAGCCACTGGAGCCCGACTCCCCACCAGGCTGGGATAGGCCAGCGTCTGTCTCCTCCACTGGACCGGACGCAATGGTAAAGGCATGTGCTGTCTTGGTGAGTTGTGGGGTGGGGCCTGAATCTGCTTTTGTAGC... | ATCTCAGCCTCTCAAATTGTTCGCCCCGGGCACCGTAAGCTGGGAGGCCTGGGCCTCTCCGCTGGTTCACGTGCCAGGACATAGTATGTGCGCCAGAAATCACATTTCACCCCCTAAATGCTGCTGAGCCCTAAGATGCAGCTCACAAACCCCTCTTCTGGGAGGCTGTCCCTGACACGGCCCTTCAAGCCACTGGAGCCCGACTCCCCACCAGGCTGGGATAGGCCAGCGTCTGTCTCCTCCACTGGACCGGACGCAATGGTAAAGGCATGTGCTGTCTTGGTGAGTTGTGGGGTGGGGCCTGAATCTGCTTTTGTAGC... | pathogenic | 245,612 |
Determine if the mutation at chromosome 16, position 3583488 in gene SLX4 (SLX4 structure-specific endonuclease subunit) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_P'] | CAATGACAAGTGTCCGGGTAGCACGGCTGGGTCAGGAGAACTGCATCTGGGCTGTGGCAGTGCAGGGAGCCTCAGGACACCTGGTCTCAGGCTGGCGGTGGCTGGGGTTGGCCTGAGTGCTGAGGAGGACGGGCCCGGGCTGCCGGGGCAGGCTGGACCTGACGTCCATCTCAGGACAGACATGTAGGGCAGCTGTGCCCAGGACTGGTGGGCTCAGAGGGTGGCAAATGTGGCAGAATAGGCCATGCCCTGGCCAGCTGGTGATGGCCCACTGCCCCCTGGGACAGCTGAGGGCCCTCTTGGGTTAAGGGAGACACACT... | CAATGACAAGTGTCCGGGTAGCACGGCTGGGTCAGGAGAACTGCATCTGGGCTGTGGCAGTGCAGGGAGCCTCAGGACACCTGGTCTCAGGCTGGCGGTGGCTGGGGTTGGCCTGAGTGCTGAGGAGGACGGGCCCGGGCTGCCGGGGCAGGCTGGACCTGACGTCCATCTCAGGACAGACATGTAGGGCAGCTGTGCCCAGGACTGGTGGGCTCAGAGGGTGGCAAATGTGGCAGAATAGGCCATGCCCTGGCCAGCTGGTGATGGCCCACTGCCCCCTGGGACAGCTGAGGGCCCTCTTGGGTTAAGGGAGACACACT... | pathogenic | 245,625 |
Does the variant on chromosome 16 at location 3589547 affecting gene SLX4 (SLX4 structure-specific endonuclease subunit) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_P'] | GGTTCTTCTGCCTTTTATGACCATGGAGCCCTTTGAGCCCCCGATGAAAGCGGCAGGCTCTGTCTCCTGAGAAAAGCACGATTCTTCCTGTGGCCGCAGCGTCGTCCTGAAGCCCACCTCAGATCTGCTGTGCAGCCTCCTGCAGCTGTTCTCACAGCACTGCCTGGGAACTGGTTAGAAATGCAAATTCTTAGTCACCCTCCCGAAGCAAGGCTCTGGGGCAGGCTGGGCCACGGGCGTGCTATAAGAAGCTCTCCAGGTGTTTCTGAAGCCCCTGAGGGCCGAGGACACTATCAGTGGCCTCATTCATCTGGATTTTG... | GGTTCTTCTGCCTTTTATGACCATGGAGCCCTTTGAGCCCCCGATGAAAGCGGCAGGCTCTGTCTCCTGAGAAAAGCACGATTCTTCCTGTGGCCGCAGCGTCGTCCTGAAGCCCACCTCAGATCTGCTGTGCAGCCTCCTGCAGCTGTTCTCACAGCACTGCCTGGGAACTGGTTAGAAATGCAAATTCTTAGTCACCCTCCCGAAGCAAGGCTCTGGGGCAGGCTGGGCCACGGGCGTGCTATAAGAAGCTCTCCAGGTGTTTCTGAAGCCCCTGAGGGCCGAGGACACTATCAGTGGCCTCATTCATCTGGATTTTG... | pathogenic | 245,661 |
Evaluate if the mutation on chromosome 16 at position 3589741 in SLX4 (SLX4 structure-specific endonuclease subunit) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_P'] | TCACCCTCCCGAAGCAAGGCTCTGGGGCAGGCTGGGCCACGGGCGTGCTATAAGAAGCTCTCCAGGTGTTTCTGAAGCCCCTGAGGGCCGAGGACACTATCAGTGGCCTCATTCATCTGGATTTTGGGAGGAAATGGGCCCCCAGGCCGCAGGCAGGTGCTCACTCACAGCCTGGCCTTTCTCCCAGTCATGCTCAGCCCAGCCCGGCCTGTCCTTGCCCTCCCCGGAGGTGCCTGGATGGGAGCAGCAGCACCGAGGGGGCCGACACCTGGGGCTCTGACTCTCCCCGGGGACTGAAATGAGCAGGGAGGTGGCATCCC... | TCACCCTCCCGAAGCAAGGCTCTGGGGCAGGCTGGGCCACGGGCGTGCTATAAGAAGCTCTCCAGGTGTTTCTGAAGCCCCTGAGGGCCGAGGACACTATCAGTGGCCTCATTCATCTGGATTTTGGGAGGAAATGGGCCCCCAGGCCGCAGGCAGGTGCTCACTCACAGCCTGGCCTTTCTCCCAGTCATGCTCAGCCCAGCCCGGCCTGTCCTTGCCCTCCCCGGAGGTGCCTGGATGGGAGCAGCAGCACCGAGGGGGCCGACACCTGGGGCTCTGACTCTCCCCGGGGACTGAAATGAGCAGGGAGGTGGCATCCC... | pathogenic | 245,668 |
Gene SLX4 (SLX4 structure-specific endonuclease subunit) variant at chromosome position 3589994 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_P'] | CGAGGGGGCCGACACCTGGGGCTCTGACTCTCCCCGGGGACTGAAATGAGCAGGGAGGTGGCATCCCTGCACCTGGGAGGACCAGGAAGAACAGGCCTAACAGCCTCTCACACTTGTCCCACCTGATTCTTTTTTTAATTGAGGTGAAATTCACATAAAAAAATCGTAAAGGGAATAATTCAGTGGCATTAAGTATTCACAATGTTGTACAACCATCACCTCTATCTATTTGCAAAACATTTTCACCACCCCAAAAGGACACCCTGTATCCCATAAGCAGTCACTCCCCATTCCCCCTCCCTCCAACCCAGGCCAACCAC... | CGAGGGGGCCGACACCTGGGGCTCTGACTCTCCCCGGGGACTGAAATGAGCAGGGAGGTGGCATCCCTGCACCTGGGAGGACCAGGAAGAACAGGCCTAACAGCCTCTCACACTTGTCCCACCTGATTCTTTTTTTAATTGAGGTGAAATTCACATAAAAAAATCGTAAAGGGAATAATTCAGTGGCATTAAGTATTCACAATGTTGTACAACCATCACCTCTATCTATTTGCAAAACATTTTCACCACCCCAAAAGGACACCCTGTATCCCATAAGCAGTCACTCCCCATTCCCCCTCCCTCCAACCCAGGCCAACCAC... | pathogenic | 245,681 |
Variant chromosome 16, position 3590052, gene SLX4 (SLX4 structure-specific endonuclease subunit): benign or pathogenic? Disease(s)? | benign | TGGCATCCCTGCACCTGGGAGGACCAGGAAGAACAGGCCTAACAGCCTCTCACACTTGTCCCACCTGATTCTTTTTTTAATTGAGGTGAAATTCACATAAAAAAATCGTAAAGGGAATAATTCAGTGGCATTAAGTATTCACAATGTTGTACAACCATCACCTCTATCTATTTGCAAAACATTTTCACCACCCCAAAAGGACACCCTGTATCCCATAAGCAGTCACTCCCCATTCCCCCTCCCTCCAACCCAGGCCAACCACTAACCTGCATTTTCTCTGGATTTGCCTATTCTAGACATTTCATATCCATGAGTGCAGA... | TGGCATCCCTGCACCTGGGAGGACCAGGAAGAACAGGCCTAACAGCCTCTCACACTTGTCCCACCTGATTCTTTTTTTAATTGAGGTGAAATTCACATAAAAAAATCGTAAAGGGAATAATTCAGTGGCATTAAGTATTCACAATGTTGTACAACCATCACCTCTATCTATTTGCAAAACATTTTCACCACCCCAAAAGGACACCCTGTATCCCATAAGCAGTCACTCCCCATTCCCCCTCCCTCCAACCCAGGCCAACCACTAACCTGCATTTTCTCTGGATTTGCCTATTCTAGACATTTCATATCCATGAGTGCAGA... | benign | 245,686 |
Gene SLX4 (SLX4 structure-specific endonuclease subunit) variant at chromosome position 3590783 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GATGTGGATTTTTAACACATGCCCAGGTGAGCACTGGAGCCAGGCAAGTTTGGGAAACACTGACTTACTGGCTGAGAAGTGTAGCATGAGAACCAGCCCGGCTCTCCTCCACTGTGGAGGGGAGTCTGGAAGGCAGCGGAAGTGTCATGCCTCAGGTCAGCAGGCATTCAGAGGGCAGCCCCTGGGTCTCATGACTGATCTTCCCACCCTCTTAGTGTAAAATAGTAACAAAGACAGTCCCCTTCCCCAGCTCTCCTGGCTACTCACTGGGTGTCTCTAACCCTTCGGGCTTCTGAGCTCCACCAGCGCTTGGCATCTGG... | GATGTGGATTTTTAACACATGCCCAGGTGAGCACTGGAGCCAGGCAAGTTTGGGAAACACTGACTTACTGGCTGAGAAGTGTAGCATGAGAACCAGCCCGGCTCTCCTCCACTGTGGAGGGGAGTCTGGAAGGCAGCGGAAGTGTCATGCCTCAGGTCAGCAGGCATTCAGAGGGCAGCCCCTGGGTCTCATGACTGATCTTCCCACCCTCTTAGTGTAAAATAGTAACAAAGACAGTCCCCTTCCCCAGCTCTCCTGGCTACTCACTGGGTGTCTCTAACCCTTCGGGCTTCTGAGCTCCACCAGCGCTTGGCATCTGG... | benign | 245,703 |
Chromosome 16, position 3590828, gene SLX4 (SLX4 structure-specific endonuclease subunit): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_P'] | AAGTTTGGGAAACACTGACTTACTGGCTGAGAAGTGTAGCATGAGAACCAGCCCGGCTCTCCTCCACTGTGGAGGGGAGTCTGGAAGGCAGCGGAAGTGTCATGCCTCAGGTCAGCAGGCATTCAGAGGGCAGCCCCTGGGTCTCATGACTGATCTTCCCACCCTCTTAGTGTAAAATAGTAACAAAGACAGTCCCCTTCCCCAGCTCTCCTGGCTACTCACTGGGTGTCTCTAACCCTTCGGGCTTCTGAGCTCCACCAGCGCTTGGCATCTGGGCCGGAGGAGGGGTCTCTGGAGGCCTCTGCTCTTCCCCGTCCCAA... | AAGTTTGGGAAACACTGACTTACTGGCTGAGAAGTGTAGCATGAGAACCAGCCCGGCTCTCCTCCACTGTGGAGGGGAGTCTGGAAGGCAGCGGAAGTGTCATGCCTCAGGTCAGCAGGCATTCAGAGGGCAGCCCCTGGGTCTCATGACTGATCTTCCCACCCTCTTAGTGTAAAATAGTAACAAAGACAGTCCCCTTCCCCAGCTCTCCTGGCTACTCACTGGGTGTCTCTAACCCTTCGGGCTTCTGAGCTCCACCAGCGCTTGGCATCTGGGCCGGAGGAGGGGTCTCTGGAGGCCTCTGCTCTTCCCCGTCCCAA... | pathogenic | 245,707 |
Is the genetic mutation found on chromosome 16 at position 3600976, within the gene SLX4 (SLX4 structure-specific endonuclease subunit), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_P'] | GTTCTGATGACCACAGGCTTGGCCTTTGGGGAGGGAGGGGTTCAAAGACCCCATGAGGGCATCCAGCTCCTGTAGTTTTCTACTCTGACAACCTTCTAAACGGATCCACATACATCTAGTTTCAGTACTTGGAGGTATTCTAAAGGCAGACATACTTTATCTGAGCAGGTGCTTTTGGCGTGGTCCTGCCAAGAAAGAAACAATGGCTTAGATGACGTCTATTCTAAGGCCTCAAGGCTTGCACCCCTGCCATGCTAAATACAGATGCGCTCCTCCACCAAGAGAATCCCCTCTGCCCTCTGCCATCTCAGCCCCGAGCC... | GTTCTGATGACCACAGGCTTGGCCTTTGGGGAGGGAGGGGTTCAAAGACCCCATGAGGGCATCCAGCTCCTGTAGTTTTCTACTCTGACAACCTTCTAAACGGATCCACATACATCTAGTTTCAGTACTTGGAGGTATTCTAAAGGCAGACATACTTTATCTGAGCAGGTGCTTTTGGCGTGGTCCTGCCAAGAAAGAAACAATGGCTTAGATGACGTCTATTCTAAGGCCTCAAGGCTTGCACCCCTGCCATGCTAAATACAGATGCGCTCCTCCACCAAGAGAATCCCCTCTGCCCTCTGCCATCTCAGCCCCGAGCC... | pathogenic | 245,795 |
Clinically, how would you classify the variant at chromosome 16, position 3601016, gene SLX4 (SLX4 structure-specific endonuclease subunit): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Fanconi_anemia'] | TTCAAAGACCCCATGAGGGCATCCAGCTCCTGTAGTTTTCTACTCTGACAACCTTCTAAACGGATCCACATACATCTAGTTTCAGTACTTGGAGGTATTCTAAAGGCAGACATACTTTATCTGAGCAGGTGCTTTTGGCGTGGTCCTGCCAAGAAAGAAACAATGGCTTAGATGACGTCTATTCTAAGGCCTCAAGGCTTGCACCCCTGCCATGCTAAATACAGATGCGCTCCTCCACCAAGAGAATCCCCTCTGCCCTCTGCCATCTCAGCCCCGAGCCAGCTCAGCTGCCCATGACCTGTGTGCAAAGCAGGGGGCGG... | TTCAAAGACCCCATGAGGGCATCCAGCTCCTGTAGTTTTCTACTCTGACAACCTTCTAAACGGATCCACATACATCTAGTTTCAGTACTTGGAGGTATTCTAAAGGCAGACATACTTTATCTGAGCAGGTGCTTTTGGCGTGGTCCTGCCAAGAAAGAAACAATGGCTTAGATGACGTCTATTCTAAGGCCTCAAGGCTTGCACCCCTGCCATGCTAAATACAGATGCGCTCCTCCACCAAGAGAATCCCCTCTGCCCTCTGCCATCTCAGCCCCGAGCCAGCTCAGCTGCCCATGACCTGTGTGCAAAGCAGGGGGCGG... | pathogenic | 245,799 |
Chromosome 16, position 3601025, gene SLX4 (SLX4 structure-specific endonuclease subunit): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Fanconi_anemia'] | CCCATGAGGGCATCCAGCTCCTGTAGTTTTCTACTCTGACAACCTTCTAAACGGATCCACATACATCTAGTTTCAGTACTTGGAGGTATTCTAAAGGCAGACATACTTTATCTGAGCAGGTGCTTTTGGCGTGGTCCTGCCAAGAAAGAAACAATGGCTTAGATGACGTCTATTCTAAGGCCTCAAGGCTTGCACCCCTGCCATGCTAAATACAGATGCGCTCCTCCACCAAGAGAATCCCCTCTGCCCTCTGCCATCTCAGCCCCGAGCCAGCTCAGCTGCCCATGACCTGTGTGCAAAGCAGGGGGCGGGACAAACAG... | CCCATGAGGGCATCCAGCTCCTGTAGTTTTCTACTCTGACAACCTTCTAAACGGATCCACATACATCTAGTTTCAGTACTTGGAGGTATTCTAAAGGCAGACATACTTTATCTGAGCAGGTGCTTTTGGCGTGGTCCTGCCAAGAAAGAAACAATGGCTTAGATGACGTCTATTCTAAGGCCTCAAGGCTTGCACCCCTGCCATGCTAAATACAGATGCGCTCCTCCACCAAGAGAATCCCCTCTGCCCTCTGCCATCTCAGCCCCGAGCCAGCTCAGCTGCCCATGACCTGTGTGCAAAGCAGGGGGCGGGACAAACAG... | pathogenic | 245,800 |
The mutation impacting SLX4 (SLX4 structure-specific endonuclease subunit) on chromosome 16 at position 3602207: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_P'] | AGAGCTCAACCTAGATTCCATGCATGTGCGGCTCACAACAGGGTTTGTGTTCCTGTGAGTCTAATGCCACCACTGATCTGACAGGAGGCGGAGCTCAGGCAGTAAAGCTTGCCTGCCCGCTGCTCACCTCCTGCTGTGTGGCCAGGTTCCTAACAGGCCACAGACCGGTACTGGTCCGAGGCTGGGGGGTTGGGGACCCCTGCACTAGAGGGTACCGACTGTGGGATCATGGGATTGGAAACTCAGGAAGGACCTTGAGGAAAACAGTGCGAAGATCATTTCTGCACCCCCCTAAAGGGGCAGGTCCAGAGCCTTCCAGA... | AGAGCTCAACCTAGATTCCATGCATGTGCGGCTCACAACAGGGTTTGTGTTCCTGTGAGTCTAATGCCACCACTGATCTGACAGGAGGCGGAGCTCAGGCAGTAAAGCTTGCCTGCCCGCTGCTCACCTCCTGCTGTGTGGCCAGGTTCCTAACAGGCCACAGACCGGTACTGGTCCGAGGCTGGGGGGTTGGGGACCCCTGCACTAGAGGGTACCGACTGTGGGATCATGGGATTGGAAACTCAGGAAGGACCTTGAGGAAAACAGTGCGAAGATCATTTCTGCACCCCCCTAAAGGGGCAGGTCCAGAGCCTTCCAGA... | pathogenic | 245,810 |
Is the variant located on chromosome 16 at position 3608450, gene SLX4 (SLX4 structure-specific endonuclease subunit), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_P'] | CCTTCCCGCCTCCCTTCCTCAGAGTTGTATTAACTTATCTCTGTGTGGAAGACAGAAACACACTCATCATACCATTCCCCGCCATCATCTCCTCTTGAGGATCCTTTGGGACATTTTCTTCCCGCGCAGCCTCGAGGGAGCACTCTTCTGAAGCGTGTCTCAAACGCTCGGGGTCTGCTCTCTTGAACTGCTGCATTCGCTGTAGGACCAATTGTGCTGTGCGGGGTTTGGAGGGACTTGGCACTGCTGTTGTCAAACAGGAAGGAGGAGGCTGGGAGTCGCTGTTGGGCACATTCTCTGGCAAGGAGGAAAATATTCAC... | CCTTCCCGCCTCCCTTCCTCAGAGTTGTATTAACTTATCTCTGTGTGGAAGACAGAAACACACTCATCATACCATTCCCCGCCATCATCTCCTCTTGAGGATCCTTTGGGACATTTTCTTCCCGCGCAGCCTCGAGGGAGCACTCTTCTGAAGCGTGTCTCAAACGCTCGGGGTCTGCTCTCTTGAACTGCTGCATTCGCTGTAGGACCAATTGTGCTGTGCGGGGTTTGGAGGGACTTGGCACTGCTGTTGTCAAACAGGAAGGAGGAGGCTGGGAGTCGCTGTTGGGCACATTCTCTGGCAAGGAGGAAAATATTCAC... | pathogenic | 245,825 |
Regarding the variant found on chromosome 16 at position 3608539 in gene SLX4 (SLX4 structure-specific endonuclease subunit): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Fanconi_anemia', 'Fanconi_anemia_complementation_group_P'] | TCCTCTTGAGGATCCTTTGGGACATTTTCTTCCCGCGCAGCCTCGAGGGAGCACTCTTCTGAAGCGTGTCTCAAACGCTCGGGGTCTGCTCTCTTGAACTGCTGCATTCGCTGTAGGACCAATTGTGCTGTGCGGGGTTTGGAGGGACTTGGCACTGCTGTTGTCAAACAGGAAGGAGGAGGCTGGGAGTCGCTGTTGGGCACATTCTCTGGCAAGGAGGAAAATATTCACAACCATCTGTTGTAGCTGGAGAAATAAAAGACTTTTCTACCAGATACAGGTTAGACGCAAGTTTCAAGAGTCCTTTATCAACTAGTTTA... | TCCTCTTGAGGATCCTTTGGGACATTTTCTTCCCGCGCAGCCTCGAGGGAGCACTCTTCTGAAGCGTGTCTCAAACGCTCGGGGTCTGCTCTCTTGAACTGCTGCATTCGCTGTAGGACCAATTGTGCTGTGCGGGGTTTGGAGGGACTTGGCACTGCTGTTGTCAAACAGGAAGGAGGAGGCTGGGAGTCGCTGTTGGGCACATTCTCTGGCAAGGAGGAAAATATTCACAACCATCTGTTGTAGCTGGAGAAATAAAAGACTTTTCTACCAGATACAGGTTAGACGCAAGTTTCAAGAGTCCTTTATCAACTAGTTTA... | pathogenic | 245,827 |
A genetic variant on chromosome 16, position 3658281, affects the gene DNASE1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CCCAACAGAGCAGGGAAGTAGTTTGTCCTATTAGTTTGTCCTATGGCAAGAACCTGAGGCTTCAGAGCAGGGTCCAGGGTGGAGTGAAAACACCCCAAGGTCCCGGACCAATGGGTTGAGCAGGTGCCTGGCTCCCCCGCCCTCCTGTCGCCTGGGTCCCGGACCAATGGGTTGAGCAGGTGCCTGGCTCCCCCGCCCTCCTGTCGCCTGGGTCCCGGACCAATGGGTTGAGCAGGTGCCTGGCTCCCCCGCCCTCCTGTCGCCTGGGTCCCGGACCAATGGGTTGAGCAGGTGCCTGGCTCCCCCGCCCTCCTGTCGCC... | CCCAACAGAGCAGGGAAGTAGTTTGTCCTATTAGTTTGTCCTATGGCAAGAACCTGAGGCTTCAGAGCAGGGTCCAGGGTGGAGTGAAAACACCCCAAGGTCCCGGACCAATGGGTTGAGCAGGTGCCTGGCTCCCCCGCCCTCCTGTCGCCTGGGTCCCGGACCAATGGGTTGAGCAGGTGCCTGGCTCCCCCGCCCTCCTGTCGCCTGGGTCCCGGACCAATGGGTTGAGCAGGTGCCTGGCTCCCCCGCCCTCCTGTCGCCTGGGTCCCGGACCAATGGGTTGAGCAGGTGCCTGGCTCCCCCGCCCTCCTGTCGCC... | benign | 245,849 |
Evaluate if the mutation on chromosome 16 at position 3728417 in CREBBP (CREB binding protein) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GACAATCACCTGTGAGCCTCGAATGTGTGGGGCCAACGCTGAGCCGCCCACCTCAGTCGCCCACCTCAGTCTCCGGGAAGAAAAGCCTCCGGGCGGCCGCTAAGCCTGGGCCACAGTTCCCAGCCACCACCCACGCCGCCACAACCACAACCGCAGCCCCAGCCTCTCCGCTATGAGCGAACAACCAGAACCATGTCTTACAAAGAACAGACTCAAAAAATATATATAAATAAATAAAAACCTTAAACATTCTTACAGGGATCTTAAAGAACAGAATACATGTTAAAAACCTCAGTAATTTATATCAATTTTAAGCGGTA... | GACAATCACCTGTGAGCCTCGAATGTGTGGGGCCAACGCTGAGCCGCCCACCTCAGTCGCCCACCTCAGTCTCCGGGAAGAAAAGCCTCCGGGCGGCCGCTAAGCCTGGGCCACAGTTCCCAGCCACCACCCACGCCGCCACAACCACAACCGCAGCCCCAGCCTCTCCGCTATGAGCGAACAACCAGAACCATGTCTTACAAAGAACAGACTCAAAAAATATATATAAATAAATAAAAACCTTAAACATTCTTACAGGGATCTTAAAGAACAGAATACATGTTAAAAACCTCAGTAATTTATATCAATTTTAAGCGGTA... | benign | 245,900 |
Mutation found at chromosome 16 position 3728423, gene CREBBP (CREB binding protein): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CACCTGTGAGCCTCGAATGTGTGGGGCCAACGCTGAGCCGCCCACCTCAGTCGCCCACCTCAGTCTCCGGGAAGAAAAGCCTCCGGGCGGCCGCTAAGCCTGGGCCACAGTTCCCAGCCACCACCCACGCCGCCACAACCACAACCGCAGCCCCAGCCTCTCCGCTATGAGCGAACAACCAGAACCATGTCTTACAAAGAACAGACTCAAAAAATATATATAAATAAATAAAAACCTTAAACATTCTTACAGGGATCTTAAAGAACAGAATACATGTTAAAAACCTCAGTAATTTATATCAATTTTAAGCGGTACTTTAT... | CACCTGTGAGCCTCGAATGTGTGGGGCCAACGCTGAGCCGCCCACCTCAGTCGCCCACCTCAGTCTCCGGGAAGAAAAGCCTCCGGGCGGCCGCTAAGCCTGGGCCACAGTTCCCAGCCACCACCCACGCCGCCACAACCACAACCGCAGCCCCAGCCTCTCCGCTATGAGCGAACAACCAGAACCATGTCTTACAAAGAACAGACTCAAAAAATATATATAAATAAATAAAAACCTTAAACATTCTTACAGGGATCTTAAAGAACAGAATACATGTTAAAAACCTCAGTAATTTATATCAATTTTAAGCGGTACTTTAT... | benign | 245,903 |
Gene CREBBP (CREB binding protein) variant at chromosome 16, position 3729209—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['CREBBP-related_disorder', 'Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations'] | TGCACGCCGGAGTCAATTCCTATCATCCAGGGTAATACTGGGAGACGCCCACAGAGTTCACTATAGAAAAAAATCTTCCCGAAACATCACAAAGTTATCGGGATACATTATAAGCTTGCATTATTTCAGGAATCAGTTCTGAATATTATTTTTCTTCTTACTTTTAAACATAAATGTTTAAAGTCTTGAAAATACAAATAAAAAATATGAATATAATGAACTTGTTTTTCCCGTTAAAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAA... | TGCACGCCGGAGTCAATTCCTATCATCCAGGGTAATACTGGGAGACGCCCACAGAGTTCACTATAGAAAAAAATCTTCCCGAAACATCACAAAGTTATCGGGATACATTATAAGCTTGCATTATTTCAGGAATCAGTTCTGAATATTATTTTTCTTCTTACTTTTAAACATAAATGTTTAAAGTCTTGAAAATACAAATAAAAAATATGAATATAATGAACTTGTTTTTCCCGTTAAAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAA... | pathogenic | 245,941 |
Clinically, how would you classify the variant at chromosome 16, position 3729209, gene CREBBP (CREB binding protein): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Rubinstein-Taybi_syndrome', 'Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations'] | TGCACGCCGGAGTCAATTCCTATCATCCAGGGTAATACTGGGAGACGCCCACAGAGTTCACTATAGAAAAAAATCTTCCCGAAACATCACAAAGTTATCGGGATACATTATAAGCTTGCATTATTTCAGGAATCAGTTCTGAATATTATTTTTCTTCTTACTTTTAAACATAAATGTTTAAAGTCTTGAAAATACAAATAAAAAATATGAATATAATGAACTTGTTTTTCCCGTTAAAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAA... | TGCACGCCGGAGTCAATTCCTATCATCCAGGGTAATACTGGGAGACGCCCACAGAGTTCACTATAGAAAAAAATCTTCCCGAAACATCACAAAGTTATCGGGATACATTATAAGCTTGCATTATTTCAGGAATCAGTTCTGAATATTATTTTTCTTCTTACTTTTAAACATAAATGTTTAAAGTCTTGAAAATACAAATAAAAAATATGAATATAATGAACTTGTTTTTCCCGTTAAAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAA... | pathogenic | 245,942 |
Chromosome 16, position 3729343, gene CREBBP (CREB binding protein): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Rubinstein-Taybi_syndrome', 'Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations'] | AGTTCTGAATATTATTTTTCTTCTTACTTTTAAACATAAATGTTTAAAGTCTTGAAAATACAAATAAAAAATATGAATATAATGAACTTGTTTTTCCCGTTAAAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTC... | AGTTCTGAATATTATTTTTCTTCTTACTTTTAAACATAAATGTTTAAAGTCTTGAAAATACAAATAAAAAATATGAATATAATGAACTTGTTTTTCCCGTTAAAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTC... | pathogenic | 245,948 |
Chromosome 16, position 3729404, gene CREBBP (CREB binding protein): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Rubinstein-Taybi_syndrome', 'Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations'] | AAATAAAAAATATGAATATAATGAACTTGTTTTTCCCGTTAAAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAA... | AAATAAAAAATATGAATATAATGAACTTGTTTTTCCCGTTAAAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAA... | pathogenic | 245,951 |
For chromosome 16, position 3729463, gene CREBBP (CREB binding protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic | CAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAA... | CAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAA... | pathogenic | 245,958 |
Mutation found at chromosome 16 position 3731322, gene CREBBP (CREB binding protein): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['CREBBP-related_disorder', 'Rubinstein-Taybi_syndrome', 'Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations'] | CCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCAC... | CCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCAC... | pathogenic | 245,984 |
Variant at chromosome 16, position 3731464, gene CREBBP (CREB binding protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Inborn_genetic_diseases', 'Menke-Hennekam_syndrome_1', 'Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations'] | CACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGC... | CACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGC... | pathogenic | 245,989 |
Evaluate the clinical significance of the mutation at chromosome 16, position 3736109 in gene CREBBP (CREB binding protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations'] | CTGGAGCTTTCCCTGGGCACATTTGTCTCCGTGTTTGCGACATTCCTCACGAAGCTGGGACTGCACACAGGGAGCTGGTTCCGTTTCTCGCCCCACCTGACACTATCGCGAGCCTTTCCCCATTTCCCAGAATTGACAGCATGATGCAGAGCAGAGCTAATAGCAAAGCAGTGCTCCACCCCACGCACCAGCCCTCACTAAGGCTGACCCCCAGAGCGAGCTCCTGGGGTGTTGCTGACGAAGGCATGTCCCTGCCCATTGTTGTCCATGAACCAAACACACAAGGGACAGCAGGTCTACATGCCGACACCTCAGCATCC... | CTGGAGCTTTCCCTGGGCACATTTGTCTCCGTGTTTGCGACATTCCTCACGAAGCTGGGACTGCACACAGGGAGCTGGTTCCGTTTCTCGCCCCACCTGACACTATCGCGAGCCTTTCCCCATTTCCCAGAATTGACAGCATGATGCAGAGCAGAGCTAATAGCAAAGCAGTGCTCCACCCCACGCACCAGCCCTCACTAAGGCTGACCCCCAGAGCGAGCTCCTGGGGTGTTGCTGACGAAGGCATGTCCCTGCCCATTGTTGTCCATGAACCAAACACACAAGGGACAGCAGGTCTACATGCCGACACCTCAGCATCC... | pathogenic | 245,997 |
The genetic variant at chromosome 16, position 3757362, affecting gene CREBBP (CREB binding protein): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations'] | GGACCCAGGAACAGGCCCCACAACACTTTAGAGACAGTGGTAAACAATCTACCTTCCTTCTAGACCAAAACTGTGTTGGGCAACGTAGCAGGGGTGGCATTTTTCTGGGTGTAGTTAATATTAACCTTTCTCTGAAGATATCATTAACTTTATTTTGCTTGGCACAAATGGTTTTTAAAGTGCATTCCTATTCATTATTTCATCATTGAGGACCTGACAAAATGAGGCTGCGAGGGAAGACGCTATTGTCTGTATCACAGACAAGGCTAAGCTTAATACATTAATACATCATGGGGTCTGCTGAAGGTCATGGGGCTAAA... | GGACCCAGGAACAGGCCCCACAACACTTTAGAGACAGTGGTAAACAATCTACCTTCCTTCTAGACCAAAACTGTGTTGGGCAACGTAGCAGGGGTGGCATTTTTCTGGGTGTAGTTAATATTAACCTTTCTCTGAAGATATCATTAACTTTATTTTGCTTGGCACAAATGGTTTTTAAAGTGCATTCCTATTCATTATTTCATCATTGAGGACCTGACAAAATGAGGCTGCGAGGGAAGACGCTATTGTCTGTATCACAGACAAGGCTAAGCTTAATACATTAATACATCATGGGGTCTGCTGAAGGTCATGGGGCTAAA... | pathogenic | 246,044 |
Considering the variant on chromosome 16, location 3758051, involving gene CREBBP (CREB binding protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TATTACTTATCTTGAATATGGATTTTTAAAAAAAACATAGAAGAATTAAAACACATAACCATAAAACTCCAAAATTTTCAGGCCTGTGAACAAATAACAAAAAGCCTTCTGTCTTCTTTGAAGTATAGGACATAATTACTCTGACCAAATGAGAGTAAAATAATAAAAAACGCCAAACCCCACTGTTGACGCTTATTATTTGAACCTAAAGACAAAGAACAGGCACAAACCTCTATCTTGGCCACAGAGAATCCAGCTGCTGGCTCATAAAATAGAGGCAACGTCACAGTTTGAGCAAGATTCCTGACCTGTGCCTCCAC... | TATTACTTATCTTGAATATGGATTTTTAAAAAAAACATAGAAGAATTAAAACACATAACCATAAAACTCCAAAATTTTCAGGCCTGTGAACAAATAACAAAAAGCCTTCTGTCTTCTTTGAAGTATAGGACATAATTACTCTGACCAAATGAGAGTAAAATAATAAAAAACGCCAAACCCCACTGTTGACGCTTATTATTTGAACCTAAAGACAAAGAACAGGCACAAACCTCTATCTTGGCCACAGAGAATCCAGCTGCTGGCTCATAAAATAGAGGCAACGTCACAGTTTGAGCAAGATTCCTGACCTGTGCCTCCAC... | benign | 246,049 |
Evaluate if the mutation on chromosome 16 at position 3758051 in CREBBP (CREB binding protein) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TATTACTTATCTTGAATATGGATTTTTAAAAAAAACATAGAAGAATTAAAACACATAACCATAAAACTCCAAAATTTTCAGGCCTGTGAACAAATAACAAAAAGCCTTCTGTCTTCTTTGAAGTATAGGACATAATTACTCTGACCAAATGAGAGTAAAATAATAAAAAACGCCAAACCCCACTGTTGACGCTTATTATTTGAACCTAAAGACAAAGAACAGGCACAAACCTCTATCTTGGCCACAGAGAATCCAGCTGCTGGCTCATAAAATAGAGGCAACGTCACAGTTTGAGCAAGATTCCTGACCTGTGCCTCCAC... | TATTACTTATCTTGAATATGGATTTTTAAAAAAAACATAGAAGAATTAAAACACATAACCATAAAACTCCAAAATTTTCAGGCCTGTGAACAAATAACAAAAAGCCTTCTGTCTTCTTTGAAGTATAGGACATAATTACTCTGACCAAATGAGAGTAAAATAATAAAAAACGCCAAACCCCACTGTTGACGCTTATTATTTGAACCTAAAGACAAAGAACAGGCACAAACCTCTATCTTGGCCACAGAGAATCCAGCTGCTGGCTCATAAAATAGAGGCAACGTCACAGTTTGAGCAAGATTCCTGACCTGTGCCTCCAC... | benign | 246,050 |
Is the genetic variant on chromosome 16, position 3758051, gene CREBBP (CREB binding protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TATTACTTATCTTGAATATGGATTTTTAAAAAAAACATAGAAGAATTAAAACACATAACCATAAAACTCCAAAATTTTCAGGCCTGTGAACAAATAACAAAAAGCCTTCTGTCTTCTTTGAAGTATAGGACATAATTACTCTGACCAAATGAGAGTAAAATAATAAAAAACGCCAAACCCCACTGTTGACGCTTATTATTTGAACCTAAAGACAAAGAACAGGCACAAACCTCTATCTTGGCCACAGAGAATCCAGCTGCTGGCTCATAAAATAGAGGCAACGTCACAGTTTGAGCAAGATTCCTGACCTGTGCCTCCAC... | TATTACTTATCTTGAATATGGATTTTTAAAAAAAACATAGAAGAATTAAAACACATAACCATAAAACTCCAAAATTTTCAGGCCTGTGAACAAATAACAAAAAGCCTTCTGTCTTCTTTGAAGTATAGGACATAATTACTCTGACCAAATGAGAGTAAAATAATAAAAAACGCCAAACCCCACTGTTGACGCTTATTATTTGAACCTAAAGACAAAGAACAGGCACAAACCTCTATCTTGGCCACAGAGAATCCAGCTGCTGGCTCATAAAATAGAGGCAACGTCACAGTTTGAGCAAGATTCCTGACCTGTGCCTCCAC... | benign | 246,051 |
Is the genetic variant on chromosome 16, position 3758852, gene CREBBP (CREB binding protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations'] | GAAAAAGGCATGTCAACCTTTATCAGAGTTACTCTCAACTTCAGACGCTTGCTTCTAGGGCTGCGTTTTAGAACGGGCAGGGCTGAAGAAATAACGTACCTAATCCAAGTAGTACGGCAAGACTTGGCTCTGAGGTTACAGTTTTTACACTGTAAAAGTACGCTTTATAACTAACTAAGAGGCCATGGGCCTAAGTGACTAACAAGACACTGAAACCGAGCCACTTTTTCTCTTTTTTTTTCTTTTCAAATAGAGATGGGGGTTTCTCTATGTCGCCAAGGCTGATAACATAACTCCTGGGCTCAAGTGATTCTCCCACC... | GAAAAAGGCATGTCAACCTTTATCAGAGTTACTCTCAACTTCAGACGCTTGCTTCTAGGGCTGCGTTTTAGAACGGGCAGGGCTGAAGAAATAACGTACCTAATCCAAGTAGTACGGCAAGACTTGGCTCTGAGGTTACAGTTTTTACACTGTAAAAGTACGCTTTATAACTAACTAAGAGGCCATGGGCCTAAGTGACTAACAAGACACTGAAACCGAGCCACTTTTTCTCTTTTTTTTTCTTTTCAAATAGAGATGGGGGTTTCTCTATGTCGCCAAGGCTGATAACATAACTCCTGGGCTCAAGTGATTCTCCCACC... | pathogenic | 246,054 |
Is the genetic variant on chromosome 16, position 3767867, gene CREBBP (CREB binding protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Rubinstein-Taybi_syndrome', 'Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations'] | TTTTTAATAGAGATTAGGTTTCGCCATGTTGCCTAGGCTGCTCTCGAACTCCTGAGCTCCAGGCTAGAGTGCAGTGGTGCAATCATAGACCCTGAATTCCTGGGCTCAAGCAATCCTTCCCCCTCAGCCTCCCAAAATGCTGAGATTACGGGTGTGAGCCACCATGCACGCCCTGCTTTTCTAAGTTGGTAAGACTTGTTTGAAGAGACTGATGGTGGTATTAACAAATGTTGATTTTTTTTTGACACTGTATAGTGAAATATGTCAACATATGGAAAATCTGCAGAACTTAAGTGTCAATTGAAAAAAAAATCATGCAA... | TTTTTAATAGAGATTAGGTTTCGCCATGTTGCCTAGGCTGCTCTCGAACTCCTGAGCTCCAGGCTAGAGTGCAGTGGTGCAATCATAGACCCTGAATTCCTGGGCTCAAGCAATCCTTCCCCCTCAGCCTCCCAAAATGCTGAGATTACGGGTGTGAGCCACCATGCACGCCCTGCTTTTCTAAGTTGGTAAGACTTGTTTGAAGAGACTGATGGTGGTATTAACAAATGTTGATTTTTTTTTGACACTGTATAGTGAAATATGTCAACATATGGAAAATCTGCAGAACTTAAGTGTCAATTGAAAAAAAAATCATGCAA... | pathogenic | 246,063 |
Clinical classification of chromosome 16, position 5072071, gene ALG1: benign or pathogenic? Disease(s) if pathogenic? | benign | GATGGCTCCGTCCCCTCTCTCCAGGAGACACCACGGCAACTCCCTCCCCGACGGAGGTTCACCTACCAGAGGGAGGCATCTACTTTTGGTTTGTCATCACCATAGTCTTTATCCTCTTAGCTCATCAGAGCAGGACAGGCTCTCAAAGACTTGAAGTTCCCCTCCCTTAATTCACAGACGAAGAAAGCAAATTGATGGGGAGTGACTCGCCCGAGGTGGAGCAGGAAAGCCAGGAGTCCTGAGGCTGAGGTCCCAGATCCCTACCTGTCCCATTACAGAGCGTCGACAGAGTTGGGCAGGCGATGTGTCACAGGCCTCCA... | GATGGCTCCGTCCCCTCTCTCCAGGAGACACCACGGCAACTCCCTCCCCGACGGAGGTTCACCTACCAGAGGGAGGCATCTACTTTTGGTTTGTCATCACCATAGTCTTTATCCTCTTAGCTCATCAGAGCAGGACAGGCTCTCAAAGACTTGAAGTTCCCCTCCCTTAATTCACAGACGAAGAAAGCAAATTGATGGGGAGTGACTCGCCCGAGGTGGAGCAGGAAAGCCAGGAGTCCTGAGGCTGAGGTCCCAGATCCCTACCTGTCCCATTACAGAGCGTCGACAGAGTTGGGCAGGCGATGTGTCACAGGCCTCCA... | benign | 246,346 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 5075536, gene ALG1 (ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase). What disease(s) is it linked to if pathogenic? | pathogenic; ['ALG1-congenital_disorder_of_glycosylation'] | TTAACTCATTTAGTCCTCACAGTTACCCTAAGAAATATTGCATGTAGGTAATACAAGAACCTGTTTCTTAAGGTTGTTCTCATTTAGATGAGAAAACCTAGACTGAGAAAGGCTCTGTAAGTAGCCCATCGCCATACAGCTAGGAAGTGGTGGAATCAGGATTTGAACGTAGGTCGTCAGTGTGGTTCTATAGTATACACACGCACGCATACGCGCGCACACACAAACACACATATATTTTTTTGAGACAGAGTTTCGCTCTTGCCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTGCC... | TTAACTCATTTAGTCCTCACAGTTACCCTAAGAAATATTGCATGTAGGTAATACAAGAACCTGTTTCTTAAGGTTGTTCTCATTTAGATGAGAAAACCTAGACTGAGAAAGGCTCTGTAAGTAGCCCATCGCCATACAGCTAGGAAGTGGTGGAATCAGGATTTGAACGTAGGTCGTCAGTGTGGTTCTATAGTATACACACGCACGCATACGCGCGCACACACAAACACACATATATTTTTTTGAGACAGAGTTTCGCTCTTGCCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTGCC... | pathogenic | 246,370 |
Variant in gene ALG1 (ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase), located at chromosome 16 position 5078737: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | AATCCCTTTGCCCCACGTTGAGAGCAAGCCGTGACCTTACAGCCTTTGCAGTGGTAGCACAGGGTGGCTGAGATCGCTAGTGAGGCCTTCATTGTATTTCTTCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTATGTCCCAGACTGGAGTGCAATGGCGCCATCTCGGCTCACTGCAGCCTCCGCCTTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACCCACCACCACGCCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCT... | AATCCCTTTGCCCCACGTTGAGAGCAAGCCGTGACCTTACAGCCTTTGCAGTGGTAGCACAGGGTGGCTGAGATCGCTAGTGAGGCCTTCATTGTATTTCTTCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTATGTCCCAGACTGGAGTGCAATGGCGCCATCTCGGCTCACTGCAGCCTCCGCCTTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACCCACCACCACGCCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCT... | benign | 246,391 |
Considering the variant on chromosome 16, location 5080972, involving gene ALG1 (ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['ALG1-congenital_disorder_of_glycosylation'] | TGGCCAACCTGTGTTCTCCTCACCCCTGCCAGTCCTGCATGCTCCCACCCTGCCACGGTCTCAATGAGAACGGGAGGGCCTGTGAGCTGGAAGAGGGGTGTCTAGAAACAGGCCCCTGACATTCAATTCTCTTCTCATAGAGGACGAAGACTTCTCCATCCTGCTGGCAGCTTTAGAAAGTAGGTGTGTGGCTGCGGTGAGGAGCTCTGGGCTTGTCGGGGGCCACTGAGCTGTAAGCTGCTTGCCTGGCCTGCAGCATGTTCCTGTCCCAGGCCACTGGGTGGGGCAGCCTGGGGACAGCGGGGGTGGTGGAAGTGGGC... | TGGCCAACCTGTGTTCTCCTCACCCCTGCCAGTCCTGCATGCTCCCACCCTGCCACGGTCTCAATGAGAACGGGAGGGCCTGTGAGCTGGAAGAGGGGTGTCTAGAAACAGGCCCCTGACATTCAATTCTCTTCTCATAGAGGACGAAGACTTCTCCATCCTGCTGGCAGCTTTAGAAAGTAGGTGTGTGGCTGCGGTGAGGAGCTCTGGGCTTGTCGGGGGCCACTGAGCTGTAAGCTGCTTGCCTGGCCTGCAGCATGTTCCTGTCCCAGGCCACTGGGTGGGGCAGCCTGGGGACAGCGGGGGTGGTGGAAGTGGGC... | pathogenic | 246,418 |
Regarding the variant found on chromosome 16 at position 5082574 in gene ALG1 (ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['ALG1-congenital_disorder_of_glycosylation'] | CTCCTCCCTCCTCTGGCCTCTAGGCTCCCAGGAGTGGTTTGGAACCCGCGCCATATGCTCTGGGGGCTGTGCCAGGGCAGGAGGAGTCCTCGTGTCCCCTGTGCACAACACAGACAAAAGGCTGGGTCCACCCAGTGGGCGGTCGGGTGCCAGGCCAGTGCTTACCCCGCCATGTTTGCAGCCCGAGGCCAGCTGGCTGCAGGTGAAAGGCTATGCGTCAGGGGTCAGGGTGCACACACCCCTGCAGGTCTCAGGGCTCCTGGGTTGCTTCTGGAAGGGCCCGGATGGGGCCTGACTGGAGCTGCTGAGGGGTGGAGCTT... | CTCCTCCCTCCTCTGGCCTCTAGGCTCCCAGGAGTGGTTTGGAACCCGCGCCATATGCTCTGGGGGCTGTGCCAGGGCAGGAGGAGTCCTCGTGTCCCCTGTGCACAACACAGACAAAAGGCTGGGTCCACCCAGTGGGCGGTCGGGTGCCAGGCCAGTGCTTACCCCGCCATGTTTGCAGCCCGAGGCCAGCTGGCTGCAGGTGAAAGGCTATGCGTCAGGGGTCAGGGTGCACACACCCCTGCAGGTCTCAGGGCTCCTGGGTTGCTTCTGGAAGGGCCCGGATGGGGCCTGACTGGAGCTGCTGAGGGGTGGAGCTT... | pathogenic | 246,428 |
Regarding the variant found on chromosome 16 at position 5083744 in gene ALG1 (ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['ALG1-congenital_disorder_of_glycosylation', 'Congenital_disorder_of_glycosylation'] | GGATTACAGGAGCCCACCACAACACCTGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTTGGCCTTCCTAAGTGCTTGGATTCCAGGTGTGACCCATCACGCCTGGCCCCAGCTAGTCTTTAGAAATGTTAAGCTATTTGGCTTTATTTTCACAGTGACAGCTGGTTTGTGGTGGGTGTGCTGTGGTTTATTATTATTATCATTTTGAGATGGAGTTTCGCTCTTGTAGACCAGGCTGGAGTGCAATGGTGTGATCTTGGCT... | GGATTACAGGAGCCCACCACAACACCTGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCTGCCTTGGCCTTCCTAAGTGCTTGGATTCCAGGTGTGACCCATCACGCCTGGCCCCAGCTAGTCTTTAGAAATGTTAAGCTATTTGGCTTTATTTTCACAGTGACAGCTGGTTTGTGGTGGGTGTGCTGTGGTTTATTATTATTATCATTTTGAGATGGAGTTTCGCTCTTGTAGACCAGGCTGGAGTGCAATGGTGTGATCTTGGCT... | pathogenic | 246,443 |
Variant at chromosome position 5084897, chromosome 16, gene ALG1: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GTAGTTGCTTCCATTTAGAGCTCATGTTATATTTAGGTTGGTACAAAAGTAATCATGGTTTTTGCCATTAAAAATGGCAACTACTTTTGCACCAACCCAATATGAAAACAAAAAGCACCTTAAATACCAGAACTCCACTCGGGGCTTTTGCTCCTAGGGTAGAATTGGTGGGAATTGCCTGCAGGCTTACATGGTTTTCTTTGTTTTTCTCTCCCACCATGTCCCTTTTGGCCAAGCTCACATGGTCGGTTTGAATCAGTTAAATGAGTGTCATGCTGTGGCCTCACTGCACCCAGCGTAGACGGGTGTTTGGAAGGGCA... | GTAGTTGCTTCCATTTAGAGCTCATGTTATATTTAGGTTGGTACAAAAGTAATCATGGTTTTTGCCATTAAAAATGGCAACTACTTTTGCACCAACCCAATATGAAAACAAAAAGCACCTTAAATACCAGAACTCCACTCGGGGCTTTTGCTCCTAGGGTAGAATTGGTGGGAATTGCCTGCAGGCTTACATGGTTTTCTTTGTTTTTCTCTCCCACCATGTCCCTTTTGGCCAAGCTCACATGGTCGGTTTGAATCAGTTAAATGAGTGTCATGCTGTGGCCTCACTGCACCCAGCGTAGACGGGTGTTTGGAAGGGCA... | benign | 246,456 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 8764843, gene ABAT (4-aminobutyrate aminotransferase): what disease(s) if pathogenic? | benign | GAAGGAAATGTTCCTTAAAGTCCCCTCCAAGGTTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGTCCAAGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCTGTCTCTATAAAAAAATACAAAAAATTAGCTGGGTGCGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGTGGGAGGATCACTTGAGTCTCGGAGGTTGAGGCTGCAGTAAGCTGATATCACGCTACTGCACTCCAACCTGAGAGAGCAAGACCCTGTAACAAAAAAAAAA... | GAAGGAAATGTTCCTTAAAGTCCCCTCCAAGGTTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGTCCAAGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCTGTCTCTATAAAAAAATACAAAAAATTAGCTGGGTGCGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGTGGGAGGATCACTTGAGTCTCGGAGGTTGAGGCTGCAGTAAGCTGATATCACGCTACTGCACTCCAACCTGAGAGAGCAAGACCCTGTAACAAAAAAAAAA... | benign | 246,496 |
Clinical significance of chromosome 16, position 8764843, gene ABAT (4-aminobutyrate aminotransferase): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GAAGGAAATGTTCCTTAAAGTCCCCTCCAAGGTTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGTCCAAGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCTGTCTCTATAAAAAAATACAAAAAATTAGCTGGGTGCGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGTGGGAGGATCACTTGAGTCTCGGAGGTTGAGGCTGCAGTAAGCTGATATCACGCTACTGCACTCCAACCTGAGAGAGCAAGACCCTGTAACAAAAAAAAAA... | GAAGGAAATGTTCCTTAAAGTCCCCTCCAAGGTTGGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGTCCAAGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCTGTCTCTATAAAAAAATACAAAAAATTAGCTGGGTGCGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGTGGGAGGATCACTTGAGTCTCGGAGGTTGAGGCTGCAGTAAGCTGATATCACGCTACTGCACTCCAACCTGAGAGAGCAAGACCCTGTAACAAAAAAAAAA... | benign | 246,497 |
Evaluate the clinical significance of the mutation at chromosome 16, position 8797895 in gene PMM2 (phosphomannomutase 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | AAGTCTCCAAGTACCCAGTCCCCTTTCTTCAGCCTTGCCCACACCCTCAGCCTTCCTGTTAATCCAGGCGACCCAGGGTTACCCAGAGGTCCAGGTCCCAGTTGTTCACTTGAGCATCTGATGTACCCCAAACACCTGTGTGAAACGCTCTCTGTCCAGGATGCGTCCATAGCGCAGGGTGACGTAGAAGGTCTGTTTCCCACTGTACCGCTGGATACGCACAAACATCTCCTGAGGCCGGTCCTTGGTTTCTGTCAGGGGAATCACATCTGCCATGGGACAGTATGTGTCCTGCCGCCAGCCCCAGAAGTTCAGATGGG... | AAGTCTCCAAGTACCCAGTCCCCTTTCTTCAGCCTTGCCCACACCCTCAGCCTTCCTGTTAATCCAGGCGACCCAGGGTTACCCAGAGGTCCAGGTCCCAGTTGTTCACTTGAGCATCTGATGTACCCCAAACACCTGTGTGAAACGCTCTCTGTCCAGGATGCGTCCATAGCGCAGGGTGACGTAGAAGGTCTGTTTCCCACTGTACCGCTGGATACGCACAAACATCTCCTGAGGCCGGTCCTTGGTTTCTGTCAGGGGAATCACATCTGCCATGGGACAGTATGTGTCCTGCCGCCAGCCCCAGAAGTTCAGATGGG... | pathogenic | 246,549 |
The genetic variant at chromosome 16, position 8797905, affecting gene PMM2 (phosphomannomutase 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['PMM2-congenital_disorder_of_glycosylation', 'PMM2-related_disorder'] | GTACCCAGTCCCCTTTCTTCAGCCTTGCCCACACCCTCAGCCTTCCTGTTAATCCAGGCGACCCAGGGTTACCCAGAGGTCCAGGTCCCAGTTGTTCACTTGAGCATCTGATGTACCCCAAACACCTGTGTGAAACGCTCTCTGTCCAGGATGCGTCCATAGCGCAGGGTGACGTAGAAGGTCTGTTTCCCACTGTACCGCTGGATACGCACAAACATCTCCTGAGGCCGGTCCTTGGTTTCTGTCAGGGGAATCACATCTGCCATGGGACAGTATGTGTCCTGCCGCCAGCCCCAGAAGTTCAGATGGGCCACCCGCAG... | GTACCCAGTCCCCTTTCTTCAGCCTTGCCCACACCCTCAGCCTTCCTGTTAATCCAGGCGACCCAGGGTTACCCAGAGGTCCAGGTCCCAGTTGTTCACTTGAGCATCTGATGTACCCCAAACACCTGTGTGAAACGCTCTCTGTCCAGGATGCGTCCATAGCGCAGGGTGACGTAGAAGGTCTGTTTCCCACTGTACCGCTGGATACGCACAAACATCTCCTGAGGCCGGTCCTTGGTTTCTGTCAGGGGAATCACATCTGCCATGGGACAGTATGTGTCCTGCCGCCAGCCCCAGAAGTTCAGATGGGCCACCCGCAG... | pathogenic | 246,550 |
Does the chromosome 16 mutation at position 8797936 within gene PMM2 (phosphomannomutase 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | CACCCTCAGCCTTCCTGTTAATCCAGGCGACCCAGGGTTACCCAGAGGTCCAGGTCCCAGTTGTTCACTTGAGCATCTGATGTACCCCAAACACCTGTGTGAAACGCTCTCTGTCCAGGATGCGTCCATAGCGCAGGGTGACGTAGAAGGTCTGTTTCCCACTGTACCGCTGGATACGCACAAACATCTCCTGAGGCCGGTCCTTGGTTTCTGTCAGGGGAATCACATCTGCCATGGGACAGTATGTGTCCTGCCGCCAGCCCCAGAAGTTCAGATGGGCCACCCGCAGCATGGTGCCAGACTCATTCAGATACAGGATA... | CACCCTCAGCCTTCCTGTTAATCCAGGCGACCCAGGGTTACCCAGAGGTCCAGGTCCCAGTTGTTCACTTGAGCATCTGATGTACCCCAAACACCTGTGTGAAACGCTCTCTGTCCAGGATGCGTCCATAGCGCAGGGTGACGTAGAAGGTCTGTTTCCCACTGTACCGCTGGATACGCACAAACATCTCCTGAGGCCGGTCCTTGGTTTCTGTCAGGGGAATCACATCTGCCATGGGACAGTATGTGTCCTGCCGCCAGCCCCAGAAGTTCAGATGGGCCACCCGCAGCATGGTGCCAGACTCATTCAGATACAGGATA... | pathogenic | 246,557 |
Is the genetic mutation found on chromosome 16 at position 8797947, within the gene PMM2 (phosphomannomutase 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | TTCCTGTTAATCCAGGCGACCCAGGGTTACCCAGAGGTCCAGGTCCCAGTTGTTCACTTGAGCATCTGATGTACCCCAAACACCTGTGTGAAACGCTCTCTGTCCAGGATGCGTCCATAGCGCAGGGTGACGTAGAAGGTCTGTTTCCCACTGTACCGCTGGATACGCACAAACATCTCCTGAGGCCGGTCCTTGGTTTCTGTCAGGGGAATCACATCTGCCATGGGACAGTATGTGTCCTGCCGCCAGCCCCAGAAGTTCAGATGGGCCACCCGCAGCATGGTGCCAGACTCATTCAGATACAGGATACCAACCAGTCT... | TTCCTGTTAATCCAGGCGACCCAGGGTTACCCAGAGGTCCAGGTCCCAGTTGTTCACTTGAGCATCTGATGTACCCCAAACACCTGTGTGAAACGCTCTCTGTCCAGGATGCGTCCATAGCGCAGGGTGACGTAGAAGGTCTGTTTCCCACTGTACCGCTGGATACGCACAAACATCTCCTGAGGCCGGTCCTTGGTTTCTGTCAGGGGAATCACATCTGCCATGGGACAGTATGTGTCCTGCCGCCAGCCCCAGAAGTTCAGATGGGCCACCCGCAGCATGGTGCCAGACTCATTCAGATACAGGATACCAACCAGTCT... | pathogenic | 246,559 |
The mutation in gene PMM2 (phosphomannomutase 2) at chromosome 16, position 8801802—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | GCCAGGATGGTCTCTATCTCTGGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTTCTGACTTTTAAAGGCCACTCCTCCAATTCTAGATTCTGTCTAATAGGTCCAGATTCCACTGTGAGAGTAGAAAAGATTGCACTCTATTACAAACCCTTCTGTACAATTTTAATCACATTCATGTATTACTCTAAAAAAGTTTTTTAAAGAAAAATCATTGAACTCCAAGTGTTTATATACTGAGGTTGAATTAAATGGTTTTTTGTATTTTCTAAATTTCTAGTAAAAAGATA... | GCCAGGATGGTCTCTATCTCTGGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTTCTGACTTTTAAAGGCCACTCCTCCAATTCTAGATTCTGTCTAATAGGTCCAGATTCCACTGTGAGAGTAGAAAAGATTGCACTCTATTACAAACCCTTCTGTACAATTTTAATCACATTCATGTATTACTCTAAAAAAGTTTTTTAAAGAAAAATCATTGAACTCCAAGTGTTTATATACTGAGGTTGAATTAAATGGTTTTTTGTATTTTCTAAATTTCTAGTAAAAAGATA... | pathogenic | 246,564 |
Variant chromosome 16, position 8801827, gene PMM2 (phosphomannomutase 2): benign or pathogenic? Disease(s)? | pathogenic; ['Inborn_genetic_diseases', 'PMM2-congenital_disorder_of_glycosylation', 'PMM2-related_disorder'] | CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTTCTGACTTTTAAAGGCCACTCCTCCAATTCTAGATTCTGTCTAATAGGTCCAGATTCCACTGTGAGAGTAGAAAAGATTGCACTCTATTACAAACCCTTCTGTACAATTTTAATCACATTCATGTATTACTCTAAAAAAGTTTTTTAAAGAAAAATCATTGAACTCCAAGTGTTTATATACTGAGGTTGAATTAAATGGTTTTTTGTATTTTCTAAATTTCTAGTAAAAAGATATTCAGCCGGGCACGGTAGTTCATGC... | CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTTCTGACTTTTAAAGGCCACTCCTCCAATTCTAGATTCTGTCTAATAGGTCCAGATTCCACTGTGAGAGTAGAAAAGATTGCACTCTATTACAAACCCTTCTGTACAATTTTAATCACATTCATGTATTACTCTAAAAAAGTTTTTTAAAGAAAAATCATTGAACTCCAAGTGTTTATATACTGAGGTTGAATTAAATGGTTTTTTGTATTTTCTAAATTTCTAGTAAAAAGATATTCAGCCGGGCACGGTAGTTCATGC... | pathogenic | 246,566 |
Determine whether the variant at chromosome 16, position 8801890, in gene PMM2 (phosphomannomutase 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | TGACTTTTAAAGGCCACTCCTCCAATTCTAGATTCTGTCTAATAGGTCCAGATTCCACTGTGAGAGTAGAAAAGATTGCACTCTATTACAAACCCTTCTGTACAATTTTAATCACATTCATGTATTACTCTAAAAAAGTTTTTTAAAGAAAAATCATTGAACTCCAAGTGTTTATATACTGAGGTTGAATTAAATGGTTTTTTGTATTTTCTAAATTTCTAGTAAAAAGATATTCAGCCGGGCACGGTAGTTCATGCCTATAATCCCAGCACTTGGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAC... | TGACTTTTAAAGGCCACTCCTCCAATTCTAGATTCTGTCTAATAGGTCCAGATTCCACTGTGAGAGTAGAAAAGATTGCACTCTATTACAAACCCTTCTGTACAATTTTAATCACATTCATGTATTACTCTAAAAAAGTTTTTTAAAGAAAAATCATTGAACTCCAAGTGTTTATATACTGAGGTTGAATTAAATGGTTTTTTGTATTTTCTAAATTTCTAGTAAAAAGATATTCAGCCGGGCACGGTAGTTCATGCCTATAATCCCAGCACTTGGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAC... | pathogenic | 246,574 |
Chromosome 16, position 8804745, gene PMM2 (phosphomannomutase 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ACGGGCACCTGTAATCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAATAAGAACGAAACTCCGTCTTGGAAAAAAAAAAAAATTATAAGTGGAGAGGTGGATGAATTGATTGTTCTTTTAACCCCTGTTGTCCCCAGAGTCCTCACATCTTGGAACCAGCTCCTCTAGAGCAAGATTTCTCACCTTCGCACTATTGATATTTTGGACCAGTTAGTTCTCCATTATGAAGGCTGTCCTGTGCATTGTAGGGTCT... | ACGGGCACCTGTAATCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAATAAGAACGAAACTCCGTCTTGGAAAAAAAAAAAAATTATAAGTGGAGAGGTGGATGAATTGATTGTTCTTTTAACCCCTGTTGTCCCCAGAGTCCTCACATCTTGGAACCAGCTCCTCTAGAGCAAGATTTCTCACCTTCGCACTATTGATATTTTGGACCAGTTAGTTCTCCATTATGAAGGCTGTCCTGTGCATTGTAGGGTCT... | benign | 246,582 |
Regarding the variant at chromosome 16 and position 8804777, affecting gene PMM2 (phosphomannomutase 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['PMM2-congenital_disorder_of_glycosylation', 'PMM2-related_disorder'] | CCGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAATAAGAACGAAACTCCGTCTTGGAAAAAAAAAAAAATTATAAGTGGAGAGGTGGATGAATTGATTGTTCTTTTAACCCCTGTTGTCCCCAGAGTCCTCACATCTTGGAACCAGCTCCTCTAGAGCAAGATTTCTCACCTTCGCACTATTGATATTTTGGACCAGTTAGTTCTCCATTATGAAGGCTGTCCTGTGCATTGTAGGGTCTTTAGCAACATCCCAGGCCTCTACCCACTAGAT... | CCGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAATAAGAACGAAACTCCGTCTTGGAAAAAAAAAAAAATTATAAGTGGAGAGGTGGATGAATTGATTGTTCTTTTAACCCCTGTTGTCCCCAGAGTCCTCACATCTTGGAACCAGCTCCTCTAGAGCAAGATTTCTCACCTTCGCACTATTGATATTTTGGACCAGTTAGTTCTCCATTATGAAGGCTGTCCTGTGCATTGTAGGGTCTTTAGCAACATCCCAGGCCTCTACCCACTAGAT... | pathogenic | 246,585 |
Variant chromosome 16, position 8804782, gene PMM2 (phosphomannomutase 2): benign or pathogenic? Disease(s)? | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | GCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAATAAGAACGAAACTCCGTCTTGGAAAAAAAAAAAAATTATAAGTGGAGAGGTGGATGAATTGATTGTTCTTTTAACCCCTGTTGTCCCCAGAGTCCTCACATCTTGGAACCAGCTCCTCTAGAGCAAGATTTCTCACCTTCGCACTATTGATATTTTGGACCAGTTAGTTCTCCATTATGAAGGCTGTCCTGTGCATTGTAGGGTCTTTAGCAACATCCCAGGCCTCTACCCACTAGATGCCCA... | GCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAATAAGAACGAAACTCCGTCTTGGAAAAAAAAAAAAATTATAAGTGGAGAGGTGGATGAATTGATTGTTCTTTTAACCCCTGTTGTCCCCAGAGTCCTCACATCTTGGAACCAGCTCCTCTAGAGCAAGATTTCTCACCTTCGCACTATTGATATTTTGGACCAGTTAGTTCTCCATTATGAAGGCTGTCCTGTGCATTGTAGGGTCTTTAGCAACATCCCAGGCCTCTACCCACTAGATGCCCA... | pathogenic | 246,587 |
Variant in gene PMM2 (phosphomannomutase 2), located at chromosome 16 position 8804785: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | GGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAATAAGAACGAAACTCCGTCTTGGAAAAAAAAAAAAATTATAAGTGGAGAGGTGGATGAATTGATTGTTCTTTTAACCCCTGTTGTCCCCAGAGTCCTCACATCTTGGAACCAGCTCCTCTAGAGCAAGATTTCTCACCTTCGCACTATTGATATTTTGGACCAGTTAGTTCTCCATTATGAAGGCTGTCCTGTGCATTGTAGGGTCTTTAGCAACATCCCAGGCCTCTACCCACTAGATGCCCACAG... | GGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCAATAAGAACGAAACTCCGTCTTGGAAAAAAAAAAAAATTATAAGTGGAGAGGTGGATGAATTGATTGTTCTTTTAACCCCTGTTGTCCCCAGAGTCCTCACATCTTGGAACCAGCTCCTCTAGAGCAAGATTTCTCACCTTCGCACTATTGATATTTTGGACCAGTTAGTTCTCCATTATGAAGGCTGTCCTGTGCATTGTAGGGTCTTTAGCAACATCCCAGGCCTCTACCCACTAGATGCCCACAG... | pathogenic | 246,589 |
Variant at chromosome position 8804828, chromosome 16, gene PMM2 (phosphomannomutase 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | AGATCACACCATTGCACTCCAGCCTGGGCAATAAGAACGAAACTCCGTCTTGGAAAAAAAAAAAAATTATAAGTGGAGAGGTGGATGAATTGATTGTTCTTTTAACCCCTGTTGTCCCCAGAGTCCTCACATCTTGGAACCAGCTCCTCTAGAGCAAGATTTCTCACCTTCGCACTATTGATATTTTGGACCAGTTAGTTCTCCATTATGAAGGCTGTCCTGTGCATTGTAGGGTCTTTAGCAACATCCCAGGCCTCTACCCACTAGATGCCCACAGCATACACACACGCACACATACGGCTATGACTACCAGAAATGTC... | AGATCACACCATTGCACTCCAGCCTGGGCAATAAGAACGAAACTCCGTCTTGGAAAAAAAAAAAAATTATAAGTGGAGAGGTGGATGAATTGATTGTTCTTTTAACCCCTGTTGTCCCCAGAGTCCTCACATCTTGGAACCAGCTCCTCTAGAGCAAGATTTCTCACCTTCGCACTATTGATATTTTGGACCAGTTAGTTCTCCATTATGAAGGCTGTCCTGTGCATTGTAGGGTCTTTAGCAACATCCCAGGCCTCTACCCACTAGATGCCCACAGCATACACACACGCACACATACGGCTATGACTACCAGAAATGTC... | pathogenic | 246,593 |
Evaluate the clinical significance of the mutation at chromosome 16, position 8806343 in gene PMM2 (phosphomannomutase 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | GCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACACCGCACCCGACCCAAAGAGCTTTTTTAAAAATATATTTAGCCTGTCCCTCAGCAATTCTGATTCAGGAAGCGAGAGAGCAAAGCTTGGAAATCTGCATTTTCACACTGCCCTGGTTGCTGCTGGTGAACCATCAGCATCATGGACGAGTATCTTCCTCTACAGACAGTCAGGCTGAAGTCAGGGACATAAGATAACCTGTCACCAAGTCCCTAATCTCCTGCCCAGTCATCATCGTTTAAATGTGTAACCAAAAAGAGCCATTAAAAAAACAAGGAACTTTTT... | GCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACACCGCACCCGACCCAAAGAGCTTTTTTAAAAATATATTTAGCCTGTCCCTCAGCAATTCTGATTCAGGAAGCGAGAGAGCAAAGCTTGGAAATCTGCATTTTCACACTGCCCTGGTTGCTGCTGGTGAACCATCAGCATCATGGACGAGTATCTTCCTCTACAGACAGTCAGGCTGAAGTCAGGGACATAAGATAACCTGTCACCAAGTCCCTAATCTCCTGCCCAGTCATCATCGTTTAAATGTGTAACCAAAAAGAGCCATTAAAAAAACAAGGAACTTTTT... | pathogenic | 246,601 |
Is the genetic mutation found on chromosome 16 at position 8806383, within the gene PMM2 (phosphomannomutase 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | CACCCGACCCAAAGAGCTTTTTTAAAAATATATTTAGCCTGTCCCTCAGCAATTCTGATTCAGGAAGCGAGAGAGCAAAGCTTGGAAATCTGCATTTTCACACTGCCCTGGTTGCTGCTGGTGAACCATCAGCATCATGGACGAGTATCTTCCTCTACAGACAGTCAGGCTGAAGTCAGGGACATAAGATAACCTGTCACCAAGTCCCTAATCTCCTGCCCAGTCATCATCGTTTAAATGTGTAACCAAAAAGAGCCATTAAAAAAACAAGGAACTTTTTTCCATACTCTTCTCTTAGTCTGTAAGATGAGATAGTCTTT... | CACCCGACCCAAAGAGCTTTTTTAAAAATATATTTAGCCTGTCCCTCAGCAATTCTGATTCAGGAAGCGAGAGAGCAAAGCTTGGAAATCTGCATTTTCACACTGCCCTGGTTGCTGCTGGTGAACCATCAGCATCATGGACGAGTATCTTCCTCTACAGACAGTCAGGCTGAAGTCAGGGACATAAGATAACCTGTCACCAAGTCCCTAATCTCCTGCCCAGTCATCATCGTTTAAATGTGTAACCAAAAAGAGCCATTAAAAAAACAAGGAACTTTTTTCCATACTCTTCTCTTAGTCTGTAAGATGAGATAGTCTTT... | pathogenic | 246,604 |
Regarding the variant found on chromosome 16 at position 8806404 in gene PMM2 (phosphomannomutase 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | TTAAAAATATATTTAGCCTGTCCCTCAGCAATTCTGATTCAGGAAGCGAGAGAGCAAAGCTTGGAAATCTGCATTTTCACACTGCCCTGGTTGCTGCTGGTGAACCATCAGCATCATGGACGAGTATCTTCCTCTACAGACAGTCAGGCTGAAGTCAGGGACATAAGATAACCTGTCACCAAGTCCCTAATCTCCTGCCCAGTCATCATCGTTTAAATGTGTAACCAAAAAGAGCCATTAAAAAAACAAGGAACTTTTTTCCATACTCTTCTCTTAGTCTGTAAGATGAGATAGTCTTTCACAGTCCTTGCTGGAGTTTA... | TTAAAAATATATTTAGCCTGTCCCTCAGCAATTCTGATTCAGGAAGCGAGAGAGCAAAGCTTGGAAATCTGCATTTTCACACTGCCCTGGTTGCTGCTGGTGAACCATCAGCATCATGGACGAGTATCTTCCTCTACAGACAGTCAGGCTGAAGTCAGGGACATAAGATAACCTGTCACCAAGTCCCTAATCTCCTGCCCAGTCATCATCGTTTAAATGTGTAACCAAAAAGAGCCATTAAAAAAACAAGGAACTTTTTTCCATACTCTTCTCTTAGTCTGTAAGATGAGATAGTCTTTCACAGTCCTTGCTGGAGTTTA... | pathogenic | 246,608 |
Evaluate if the mutation on chromosome 16 at position 8811020 in PMM2 (phosphomannomutase 2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | ATTTTGCTGTTTTTACTTTAATGAGTATTCATTGCTTCCCAGTTTACAAAGTACCTTTACATAACTGGCATGTTTGATTTTTAACAAGGCCCTTTGGAGGTAACCAGAGCAAGTGCCATTAGCCTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATA... | ATTTTGCTGTTTTTACTTTAATGAGTATTCATTGCTTCCCAGTTTACAAAGTACCTTTACATAACTGGCATGTTTGATTTTTAACAAGGCCCTTTGGAGGTAACCAGAGCAAGTGCCATTAGCCTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATA... | benign | 246,613 |
Considering the variant on chromosome 16, location 8811076, involving gene PMM2 (phosphomannomutase 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | TTACATAACTGGCATGTTTGATTTTTAACAAGGCCCTTTGGAGGTAACCAGAGCAAGTGCCATTAGCCTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGT... | TTACATAACTGGCATGTTTGATTTTTAACAAGGCCCTTTGGAGGTAACCAGAGCAAGTGCCATTAGCCTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGT... | pathogenic | 246,616 |
Considering the variant on chromosome 16, location 8811119, involving gene PMM2 (phosphomannomutase 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | GTAACCAGAGCAAGTGCCATTAGCCTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGTCAGAAAATGCTTAAATTTCATTGGTCAGAATGATATCTAGCTT... | GTAACCAGAGCAAGTGCCATTAGCCTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGTCAGAAAATGCTTAAATTTCATTGGTCAGAATGATATCTAGCTT... | pathogenic | 246,627 |
A genetic variant at chromosome 16, position 8811143, affecting gene PMM2 (phosphomannomutase 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Inborn_genetic_diseases', 'PMM2-congenital_disorder_of_glycosylation'] | CTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGTCAGAAAATGCTTAAATTTCATTGGTCAGAATGATATCTAGCTTACAAGTTATCTGAACTTTTAAGAA... | CTTTCTGTAGGTGAATAAGAGGAGGCTTGGAGAGGTGCCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGTCAGAAAATGCTTAAATTTCATTGGTCAGAATGATATCTAGCTTACAAGTTATCTGAACTTTTAAGAA... | pathogenic | 246,632 |
Evaluate if the mutation on chromosome 16 at position 8811180 in PMM2 (phosphomannomutase 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | CCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGTCAGAAAATGCTTAAATTTCATTGGTCAGAATGATATCTAGCTTACAAGTTATCTGAACTTTTAAGAAACTGGGTGGTTTTCTTTTTTTGGTTGTGGGGTTTTTG... | CCCAGAGCCACACAGCCTCCTAAGAGGCCACACTGACATGGAATCAGGTCATCAGCCCTGCACGTGGCATGTGGTCTCTCGGTATTTCCAATGGCCAGTGCCAGGACATCAGGTCTGTGAGATTAAAATAGTAGAAAAAGATGAGGGAAAATGTTTCATAGGGTTCCCAGGCATCAGCGTTTAGAACTGGAAGACACTTTTCACTGCATAGTTTGTCAGAAAATGCTTAAATTTCATTGGTCAGAATGATATCTAGCTTACAAGTTATCTGAACTTTTAAGAAACTGGGTGGTTTTCTTTTTTTGGTTGTGGGGTTTTTG... | pathogenic | 246,638 |
Gene PMM2 (phosphomannomutase 2) variant at chromosome 16, position 8811635—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | GGACTACAGGCATGCGCTACCATGTCCCGCTAATTTTTGTATTTTTAGTAGGGACAGGGTTTCATCTTGTTGGCCAGGCTGGTCTTGACTCCTGACCTCAAGGAATCCGCCCGCCGCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCAAAGAAACTGTTTTCAGACTCAAACTGGAAACCGTGGAAAAAAACTCTTTGTTTTTTGTTTTTTATTTTTTGTTTGTTCGTTTGTTTTTTGAGACGGGGTCTCCCTCTGTTACCCAGGCTGTAGTGCAGTGGTACGATCTTGGTTCACTGCAGCTTCCACTGCCCGGG... | GGACTACAGGCATGCGCTACCATGTCCCGCTAATTTTTGTATTTTTAGTAGGGACAGGGTTTCATCTTGTTGGCCAGGCTGGTCTTGACTCCTGACCTCAAGGAATCCGCCCGCCGCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCAAAGAAACTGTTTTCAGACTCAAACTGGAAACCGTGGAAAAAAACTCTTTGTTTTTTGTTTTTTATTTTTTGTTTGTTCGTTTGTTTTTTGAGACGGGGTCTCCCTCTGTTACCCAGGCTGTAGTGCAGTGGTACGATCTTGGTTCACTGCAGCTTCCACTGCCCGGG... | pathogenic | 246,641 |
Gene mutation in PMM2 (phosphomannomutase 2) at chromosome 16, position 8811635—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | GGACTACAGGCATGCGCTACCATGTCCCGCTAATTTTTGTATTTTTAGTAGGGACAGGGTTTCATCTTGTTGGCCAGGCTGGTCTTGACTCCTGACCTCAAGGAATCCGCCCGCCGCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCAAAGAAACTGTTTTCAGACTCAAACTGGAAACCGTGGAAAAAAACTCTTTGTTTTTTGTTTTTTATTTTTTGTTTGTTCGTTTGTTTTTTGAGACGGGGTCTCCCTCTGTTACCCAGGCTGTAGTGCAGTGGTACGATCTTGGTTCACTGCAGCTTCCACTGCCCGGG... | GGACTACAGGCATGCGCTACCATGTCCCGCTAATTTTTGTATTTTTAGTAGGGACAGGGTTTCATCTTGTTGGCCAGGCTGGTCTTGACTCCTGACCTCAAGGAATCCGCCCGCCGCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCAAAGAAACTGTTTTCAGACTCAAACTGGAAACCGTGGAAAAAAACTCTTTGTTTTTTGTTTTTTATTTTTTGTTTGTTCGTTTGTTTTTTGAGACGGGGTCTCCCTCTGTTACCCAGGCTGTAGTGCAGTGGTACGATCTTGGTTCACTGCAGCTTCCACTGCCCGGG... | pathogenic | 246,642 |
Gene PMM2 (phosphomannomutase 2) variant at chromosome 16, position 8811646—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | ATGCGCTACCATGTCCCGCTAATTTTTGTATTTTTAGTAGGGACAGGGTTTCATCTTGTTGGCCAGGCTGGTCTTGACTCCTGACCTCAAGGAATCCGCCCGCCGCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCAAAGAAACTGTTTTCAGACTCAAACTGGAAACCGTGGAAAAAAACTCTTTGTTTTTTGTTTTTTATTTTTTGTTTGTTCGTTTGTTTTTTGAGACGGGGTCTCCCTCTGTTACCCAGGCTGTAGTGCAGTGGTACGATCTTGGTTCACTGCAGCTTCCACTGCCCGGGCCCAAGCAATC... | ATGCGCTACCATGTCCCGCTAATTTTTGTATTTTTAGTAGGGACAGGGTTTCATCTTGTTGGCCAGGCTGGTCTTGACTCCTGACCTCAAGGAATCCGCCCGCCGCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCAAAGAAACTGTTTTCAGACTCAAACTGGAAACCGTGGAAAAAAACTCTTTGTTTTTTGTTTTTTATTTTTTGTTTGTTCGTTTGTTTTTTGAGACGGGGTCTCCCTCTGTTACCCAGGCTGTAGTGCAGTGGTACGATCTTGGTTCACTGCAGCTTCCACTGCCCGGGCCCAAGCAATC... | pathogenic | 246,644 |
Determine if the mutation at chromosome 16, position 8811675 in gene PMM2 (phosphomannomutase 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | ATTTTTAGTAGGGACAGGGTTTCATCTTGTTGGCCAGGCTGGTCTTGACTCCTGACCTCAAGGAATCCGCCCGCCGCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCAAAGAAACTGTTTTCAGACTCAAACTGGAAACCGTGGAAAAAAACTCTTTGTTTTTTGTTTTTTATTTTTTGTTTGTTCGTTTGTTTTTTGAGACGGGGTCTCCCTCTGTTACCCAGGCTGTAGTGCAGTGGTACGATCTTGGTTCACTGCAGCTTCCACTGCCCGGGCCCAAGCAATCCTCCTGTCTCAGTCTCCCAAGTAGCTGGG... | ATTTTTAGTAGGGACAGGGTTTCATCTTGTTGGCCAGGCTGGTCTTGACTCCTGACCTCAAGGAATCCGCCCGCCGCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCAAAGAAACTGTTTTCAGACTCAAACTGGAAACCGTGGAAAAAAACTCTTTGTTTTTTGTTTTTTATTTTTTGTTTGTTCGTTTGTTTTTTGAGACGGGGTCTCCCTCTGTTACCCAGGCTGTAGTGCAGTGGTACGATCTTGGTTCACTGCAGCTTCCACTGCCCGGGCCCAAGCAATCCTCCTGTCTCAGTCTCCCAAGTAGCTGGG... | pathogenic | 246,648 |
Evaluate this variant at chromosome 16, position 8811700, gene PMM2 (phosphomannomutase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | CTTGTTGGCCAGGCTGGTCTTGACTCCTGACCTCAAGGAATCCGCCCGCCGCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCAAAGAAACTGTTTTCAGACTCAAACTGGAAACCGTGGAAAAAAACTCTTTGTTTTTTGTTTTTTATTTTTTGTTTGTTCGTTTGTTTTTTGAGACGGGGTCTCCCTCTGTTACCCAGGCTGTAGTGCAGTGGTACGATCTTGGTTCACTGCAGCTTCCACTGCCCGGGCCCAAGCAATCCTCCTGTCTCAGTCTCCCAAGTAGCTGGGAATACAGGCATGTGCCACCATGCCC... | CTTGTTGGCCAGGCTGGTCTTGACTCCTGACCTCAAGGAATCCGCCCGCCGCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCAAAGAAACTGTTTTCAGACTCAAACTGGAAACCGTGGAAAAAAACTCTTTGTTTTTTGTTTTTTATTTTTTGTTTGTTCGTTTGTTTTTTGAGACGGGGTCTCCCTCTGTTACCCAGGCTGTAGTGCAGTGGTACGATCTTGGTTCACTGCAGCTTCCACTGCCCGGGCCCAAGCAATCCTCCTGTCTCAGTCTCCCAAGTAGCTGGGAATACAGGCATGTGCCACCATGCCC... | pathogenic | 246,649 |
Benign or pathogenic: chromosome 16, position 8813033, gene PMM2 (phosphomannomutase 2) variant? Disease(s) if pathogenic? | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | TTTTTAGAATTTCCCAAGATTTTAGGCTGTTTATCTATGTTGCCCAAATGAATAACGTGTTTTTGGAGAAACTCTGTCACCCTTTCATTCCCAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAGTACGTCTTTCTGAAATATCTTTGGTGAATGGCTGGGTTTATGGAAATAAGATATGGCCTGGTGTGGTGGTTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCC... | TTTTTAGAATTTCCCAAGATTTTAGGCTGTTTATCTATGTTGCCCAAATGAATAACGTGTTTTTGGAGAAACTCTGTCACCCTTTCATTCCCAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAGTACGTCTTTCTGAAATATCTTTGGTGAATGGCTGGGTTTATGGAAATAAGATATGGCCTGGTGTGGTGGTTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCC... | pathogenic | 246,659 |
Gene PMM2 (phosphomannomutase 2) variant at chromosome 16, position 8813050—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['PMM2-congenital_disorder_of_glycosylation'] | GATTTTAGGCTGTTTATCTATGTTGCCCAAATGAATAACGTGTTTTTGGAGAAACTCTGTCACCCTTTCATTCCCAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAGTACGTCTTTCTGAAATATCTTTGGTGAATGGCTGGGTTTATGGAAATAAGATATGGCCTGGTGTGGTGGTTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAG... | GATTTTAGGCTGTTTATCTATGTTGCCCAAATGAATAACGTGTTTTTGGAGAAACTCTGTCACCCTTTCATTCCCAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAGTACGTCTTTCTGAAATATCTTTGGTGAATGGCTGGGTTTATGGAAATAAGATATGGCCTGGTGTGGTGGTTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAG... | pathogenic | 246,662 |
Chromosome 16, position 8894529, gene USP7 (ubiquitin specific peptidase 7): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | ATAGCGCCTGCCGCCCCGAAGGGCCTCGTGACACATCAGGTCACATCTCCAGTCACCTTATTTGTACACAGTTCTCTCCTGGAAAACCTTTCATTTCTTAAGAGTAAATGTGACTAGTTAGAGGCTAAAAAAAAAAAAAAAAAAAAAAAGAAACAAGAGACCCTGCCCCCGCAAAACGGAATTAGAAGGAAAAGTACATCTCAGTGAAACCTTGTTACAAATGCCAAGGTTTCCCAGGCCTGTTTCCAGGGAGAGTAGAAATCTTCCTCCACTTCCACGTAACTCACTGAATTATAATTTTTATAGAAAATTTTATTCAA... | ATAGCGCCTGCCGCCCCGAAGGGCCTCGTGACACATCAGGTCACATCTCCAGTCACCTTATTTGTACACAGTTCTCTCCTGGAAAACCTTTCATTTCTTAAGAGTAAATGTGACTAGTTAGAGGCTAAAAAAAAAAAAAAAAAAAAAAAGAAACAAGAGACCCTGCCCCCGCAAAACGGAATTAGAAGGAAAAGTACATCTCAGTGAAACCTTGTTACAAATGCCAAGGTTTCCCAGGCCTGTTTCCAGGGAGAGTAGAAATCTTCCTCCACTTCCACGTAACTCACTGAATTATAATTTTTATAGAAAATTTTATTCAA... | benign | 246,702 |
Does the chromosome 16 mutation at position 8894529 within gene USP7 (ubiquitin specific peptidase 7) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | ATAGCGCCTGCCGCCCCGAAGGGCCTCGTGACACATCAGGTCACATCTCCAGTCACCTTATTTGTACACAGTTCTCTCCTGGAAAACCTTTCATTTCTTAAGAGTAAATGTGACTAGTTAGAGGCTAAAAAAAAAAAAAAAAAAAAAAAGAAACAAGAGACCCTGCCCCCGCAAAACGGAATTAGAAGGAAAAGTACATCTCAGTGAAACCTTGTTACAAATGCCAAGGTTTCCCAGGCCTGTTTCCAGGGAGAGTAGAAATCTTCCTCCACTTCCACGTAACTCACTGAATTATAATTTTTATAGAAAATTTTATTCAA... | ATAGCGCCTGCCGCCCCGAAGGGCCTCGTGACACATCAGGTCACATCTCCAGTCACCTTATTTGTACACAGTTCTCTCCTGGAAAACCTTTCATTTCTTAAGAGTAAATGTGACTAGTTAGAGGCTAAAAAAAAAAAAAAAAAAAAAAAGAAACAAGAGACCCTGCCCCCGCAAAACGGAATTAGAAGGAAAAGTACATCTCAGTGAAACCTTGTTACAAATGCCAAGGTTTCCCAGGCCTGTTTCCAGGGAGAGTAGAAATCTTCCTCCACTTCCACGTAACTCACTGAATTATAATTTTTATAGAAAATTTTATTCAA... | benign | 246,703 |
Assess the variant on chromosome 16, position 8894533, impacting USP7 (ubiquitin specific peptidase 7): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CGCCTGCCGCCCCGAAGGGCCTCGTGACACATCAGGTCACATCTCCAGTCACCTTATTTGTACACAGTTCTCTCCTGGAAAACCTTTCATTTCTTAAGAGTAAATGTGACTAGTTAGAGGCTAAAAAAAAAAAAAAAAAAAAAAAGAAACAAGAGACCCTGCCCCCGCAAAACGGAATTAGAAGGAAAAGTACATCTCAGTGAAACCTTGTTACAAATGCCAAGGTTTCCCAGGCCTGTTTCCAGGGAGAGTAGAAATCTTCCTCCACTTCCACGTAACTCACTGAATTATAATTTTTATAGAAAATTTTATTCAACATA... | CGCCTGCCGCCCCGAAGGGCCTCGTGACACATCAGGTCACATCTCCAGTCACCTTATTTGTACACAGTTCTCTCCTGGAAAACCTTTCATTTCTTAAGAGTAAATGTGACTAGTTAGAGGCTAAAAAAAAAAAAAAAAAAAAAAAGAAACAAGAGACCCTGCCCCCGCAAAACGGAATTAGAAGGAAAAGTACATCTCAGTGAAACCTTGTTACAAATGCCAAGGTTTCCCAGGCCTGTTTCCAGGGAGAGTAGAAATCTTCCTCCACTTCCACGTAACTCACTGAATTATAATTTTTATAGAAAATTTTATTCAACATA... | benign | 246,704 |
Considering the variant on chromosome 16, location 9763522, involving gene GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Landau-Kleffner_syndrome'] | ATCCCAAATACTTCAAAAATATTCATGTACATGAAATACACTAATTAACAGAGTAGAACTATATAAAAGGTTTAGTTAATATTATTTGCTGGTTTTATGATATTTAATTTTTAAACTAGAAAATCCTGATCTGAGAAAGTGTCATAACATAGCAACTATCTTGTCGGGGGCACTTGTTTTTGTGGCAGGCACTGTGCTAACAGGCTCCCCATGCATAAGTATTCCCCTCTCTGTCTCTAACTTAAAAAAAAAATGGATATCATTTCATGTCATATATGCACAGGTTTGAGGAGAATAAGAATGGGATAATGCAGGCGACT... | ATCCCAAATACTTCAAAAATATTCATGTACATGAAATACACTAATTAACAGAGTAGAACTATATAAAAGGTTTAGTTAATATTATTTGCTGGTTTTATGATATTTAATTTTTAAACTAGAAAATCCTGATCTGAGAAAGTGTCATAACATAGCAACTATCTTGTCGGGGGCACTTGTTTTTGTGGCAGGCACTGTGCTAACAGGCTCCCCATGCATAAGTATTCCCCTCTCTGTCTCTAACTTAAAAAAAAAATGGATATCATTTCATGTCATATATGCACAGGTTTGAGGAGAATAAGAATGGGATAATGCAGGCGACT... | pathogenic | 246,759 |
The chromosome 16, position 9798268 genetic variant in gene GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Landau-Kleffner_syndrome'] | TTAAAAGTTTCCAGCCAAATGAAATACATCTTAACATCAATCAATCATTCATCCATACATGTATTTATTCATTCAAACCTTTATTGACCAATTTACCTGTGATGTTCAGTGTTTTGTTGTAATGCTGGAAATAAGACTCCTGTTTGCTGAATAGTTCATCCCCTGTAAGGGTGATTATCCACCCCTGTGATAGGCAAAACATTTGGCCCCAATTCTTCAGCATACTCTCAGTGTCCACACTATTGCCATAAAACTTCAAGACCTATCTCATGAAAGGCAGAGTATACCTGCAATCCCTTGACCCTGAACTTGGCCACCTG... | TTAAAAGTTTCCAGCCAAATGAAATACATCTTAACATCAATCAATCATTCATCCATACATGTATTTATTCATTCAAACCTTTATTGACCAATTTACCTGTGATGTTCAGTGTTTTGTTGTAATGCTGGAAATAAGACTCCTGTTTGCTGAATAGTTCATCCCCTGTAAGGGTGATTATCCACCCCTGTGATAGGCAAAACATTTGGCCCCAATTCTTCAGCATACTCTCAGTGTCCACACTATTGCCATAAAACTTCAAGACCTATCTCATGAAAGGCAGAGTATACCTGCAATCCCTTGACCCTGAACTTGGCCACCTG... | pathogenic | 246,829 |
Regarding the variant at chromosome 16 and position 9829483, affecting gene GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Landau-Kleffner_syndrome'] | GGGGAGAAATCAAGGGTCTGATTTAAGGCCAAGTCTCCATCTCAGTCCCGTCCTGCAGGGAGCTCCAGAGAGTGATTCGTACCTTAAAGTTTTTCCTGCTTCGAAGCAAGGGAGCAGCTTAGCCTTTGTATTCTCACACAGATTAGTCTTTGGTTACAGGTGACCACAAAGATTGAGGGAACTTAAATTGCCAGGCATTTACCATTCCAGTGCCCAAAGGCAAAAATCTGCTGAGGATCCCTGAAGTGAGGCTTTGTCAGCAAAGCACAGAAAGGTGGGGCTGGGCACACAGCGCTGCAAAAGGGATCCCAGGAGATCCA... | GGGGAGAAATCAAGGGTCTGATTTAAGGCCAAGTCTCCATCTCAGTCCCGTCCTGCAGGGAGCTCCAGAGAGTGATTCGTACCTTAAAGTTTTTCCTGCTTCGAAGCAAGGGAGCAGCTTAGCCTTTGTATTCTCACACAGATTAGTCTTTGGTTACAGGTGACCACAAAGATTGAGGGAACTTAAATTGCCAGGCATTTACCATTCCAGTGCCCAAAGGCAAAAATCTGCTGAGGATCCCTGAAGTGAGGCTTTGTCAGCAAAGCACAGAAAGGTGGGGCTGGGCACACAGCGCTGCAAAAGGGATCCCAGGAGATCCA... | pathogenic | 246,862 |
Does the chromosome 16 mutation at position 9834189 within gene GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Landau-Kleffner_syndrome'] | AGATGAGGTCTTGCTATGTTACCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATTCTCCTGCCTTGGCCTCAAAAAGCCTTGACATCACAAGTATGAGCCACTGCACCCCCTCAGCCTTTTTCTGTTTCTTGAGCATCTCAAGATTATTTCAGCCTTTCTGTTTGCTGTTCCTTTTACATGAAATGACTGTAACTGTTTTTGACAGATAAAATTGTATGTCACCCTTCAGGTCCTAGCTCAATGAACATCCTTTCCCATTGGACCATCTTATCTAACGTAGTGTCTGCACCCCATCACTATCATGTCACTATGTTTTT... | AGATGAGGTCTTGCTATGTTACCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATTCTCCTGCCTTGGCCTCAAAAAGCCTTGACATCACAAGTATGAGCCACTGCACCCCCTCAGCCTTTTTCTGTTTCTTGAGCATCTCAAGATTATTTCAGCCTTTCTGTTTGCTGTTCCTTTTACATGAAATGACTGTAACTGTTTTTGACAGATAAAATTGTATGTCACCCTTCAGGTCCTAGCTCAATGAACATCCTTTCCCATTGGACCATCTTATCTAACGTAGTGTCTGCACCCCATCACTATCATGTCACTATGTTTTT... | pathogenic | 246,873 |
The mutation in gene GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A) at chromosome 16, position 9841070—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Landau-Kleffner_syndrome'] | CAAAAATCACTTGTACCCCTGAGCTATTGAAATTTTTTAAAAATTATACATATTTTTCCCCTCTCAGTTTTCCTCCAGAGATTCACGTTTGTCTTAACCTTCCCTAATTTGGGACAAACCCACTTATATGGGAGTGCCAAGGGGGAATTAGTGATCTGAATTTCATGATATTCAACAAGATAGTTACAGTCAAAACTCATTTATGATAACCAAACAGTTAATACAACACTTTCCTTTAAAGACAAAAATAATGCTTTACTATGTTCCATGAAATTTCAACTCTAGCCAGGCTACCCAATACAGTCCAAGTGCTAGAGAAA... | CAAAAATCACTTGTACCCCTGAGCTATTGAAATTTTTTAAAAATTATACATATTTTTCCCCTCTCAGTTTTCCTCCAGAGATTCACGTTTGTCTTAACCTTCCCTAATTTGGGACAAACCCACTTATATGGGAGTGCCAAGGGGGAATTAGTGATCTGAATTTCATGATATTCAACAAGATAGTTACAGTCAAAACTCATTTATGATAACCAAACAGTTAATACAACACTTTCCTTTAAAGACAAAAATAATGCTTTACTATGTTCCATGAAATTTCAACTCTAGCCAGGCTACCCAATACAGTCCAAGTGCTAGAGAAA... | pathogenic | 246,902 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 9938217, gene GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A): what disease(s) if pathogenic? | pathogenic; ['Landau-Kleffner_syndrome'] | ACATCAACATCACCCAAAAACTTGAAAGAAATTGCAAATTCTCTGGGCTCACCCCATATTTTCTATTACATTAGAAACTCTGAGATTGAGGCCCAGTAATTTGTGTCTTAACAAGTCCTCCCAGAGATTCTGATGCCTGCTGAGGCTTGAGAACCACTGCCTAGAAATTAGGTGCTATTATCATCACTTTGCAATAAACACCTGAGGCCCAGAAAAGTAAAATGATGTGCAAGTCATACAGAAAGTGGACGAGACAAGCTTTGAACCCAGACAAGTCTAACTCCAGAGTTGAGGCCCTTAATCACAGTTCTACACTGCTC... | ACATCAACATCACCCAAAAACTTGAAAGAAATTGCAAATTCTCTGGGCTCACCCCATATTTTCTATTACATTAGAAACTCTGAGATTGAGGCCCAGTAATTTGTGTCTTAACAAGTCCTCCCAGAGATTCTGATGCCTGCTGAGGCTTGAGAACCACTGCCTAGAAATTAGGTGCTATTATCATCACTTTGCAATAAACACCTGAGGCCCAGAAAAGTAAAATGATGTGCAAGTCATACAGAAAGTGGACGAGACAAGCTTTGAACCCAGACAAGTCTAACTCCAGAGTTGAGGCCCTTAATCACAGTTCTACACTGCTC... | pathogenic | 246,939 |
For chromosome 16, position 9938235, gene GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Intellectual_disability', 'Landau-Kleffner_syndrome'] | AACTTGAAAGAAATTGCAAATTCTCTGGGCTCACCCCATATTTTCTATTACATTAGAAACTCTGAGATTGAGGCCCAGTAATTTGTGTCTTAACAAGTCCTCCCAGAGATTCTGATGCCTGCTGAGGCTTGAGAACCACTGCCTAGAAATTAGGTGCTATTATCATCACTTTGCAATAAACACCTGAGGCCCAGAAAAGTAAAATGATGTGCAAGTCATACAGAAAGTGGACGAGACAAGCTTTGAACCCAGACAAGTCTAACTCCAGAGTTGAGGCCCTTAATCACAGTTCTACACTGCTCATTATCTGAGGAATAAAG... | AACTTGAAAGAAATTGCAAATTCTCTGGGCTCACCCCATATTTTCTATTACATTAGAAACTCTGAGATTGAGGCCCAGTAATTTGTGTCTTAACAAGTCCTCCCAGAGATTCTGATGCCTGCTGAGGCTTGAGAACCACTGCCTAGAAATTAGGTGCTATTATCATCACTTTGCAATAAACACCTGAGGCCCAGAAAAGTAAAATGATGTGCAAGTCATACAGAAAGTGGACGAGACAAGCTTTGAACCCAGACAAGTCTAACTCCAGAGTTGAGGCCCTTAATCACAGTTCTACACTGCTCATTATCTGAGGAATAAAG... | pathogenic | 246,941 |
Gene mutation in GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A) at chromosome 16, position 9938338—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Landau-Kleffner_syndrome'] | CAGAGATTCTGATGCCTGCTGAGGCTTGAGAACCACTGCCTAGAAATTAGGTGCTATTATCATCACTTTGCAATAAACACCTGAGGCCCAGAAAAGTAAAATGATGTGCAAGTCATACAGAAAGTGGACGAGACAAGCTTTGAACCCAGACAAGTCTAACTCCAGAGTTGAGGCCCTTAATCACAGTTCTACACTGCTCATTATCTGAGGAATAAAGCGTGGATTAAATCAGTGAACATCAGGCAAAACCATGCAAAATTGGGATAGGAGTGATCATTCTAAATCTCAACAGCTGAACCATAATGATGGGCCACAAGGAA... | CAGAGATTCTGATGCCTGCTGAGGCTTGAGAACCACTGCCTAGAAATTAGGTGCTATTATCATCACTTTGCAATAAACACCTGAGGCCCAGAAAAGTAAAATGATGTGCAAGTCATACAGAAAGTGGACGAGACAAGCTTTGAACCCAGACAAGTCTAACTCCAGAGTTGAGGCCCTTAATCACAGTTCTACACTGCTCATTATCTGAGGAATAAAGCGTGGATTAAATCAGTGAACATCAGGCAAAACCATGCAAAATTGGGATAGGAGTGATCATTCTAAATCTCAACAGCTGAACCATAATGATGGGCCACAAGGAA... | pathogenic | 246,945 |
The chromosome 16, position 10180315 genetic variant in gene GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Landau-Kleffner_syndrome'] | GCTCAGCCCCTCCCACAAAATGAAACTGATCCCTTGTCCCTCCTGAAGATGGATGACATCATTAAAGTATGGGCTTGATTTAGTGGAATGGAAGATCACACCTTGGGATCAGAAATTCAGCTACCTAGCTACATCAGCCACTATGTGGTCTTGGCAAATTCCCTTAACTCCCCTATGGCTCAGTCACTTCATCTGAAAGTTACAGCATGCTCCAAGAAACCCTAAGATGCTCTCCAGTTCTGAAATTGTCAGTGGTGGCAGAGCATGGCTAGTCCCTACTCTCTTCTTCCCAGACAGGAGCCCCCCAAAACTGAGAAGTG... | GCTCAGCCCCTCCCACAAAATGAAACTGATCCCTTGTCCCTCCTGAAGATGGATGACATCATTAAAGTATGGGCTTGATTTAGTGGAATGGAAGATCACACCTTGGGATCAGAAATTCAGCTACCTAGCTACATCAGCCACTATGTGGTCTTGGCAAATTCCCTTAACTCCCCTATGGCTCAGTCACTTCATCTGAAAGTTACAGCATGCTCCAAGAAACCCTAAGATGCTCTCCAGTTCTGAAATTGTCAGTGGTGGCAGAGCATGGCTAGTCCCTACTCTCTTCTTCCCAGACAGGAGCCCCCCAAAACTGAGAAGTG... | pathogenic | 246,971 |
For chromosome 16, position 10898709, gene CIITA (class II major histocompatibility complex transactivator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['MHC_class_II_deficiency', 'MHC_class_II_deficiency_1', 'Rheumatoid_arthritis'] | GTGCAAGCCGGAGTCCTGCCCCCATTTTCCTTGTTGGCTTGGGCACCTGTGTGCAGTGAACAACCTGCAAAACTCTTCTTAGTGGTCTTCTTCCTGCCAACCCAGGAACAGCAGCATTCAGCAGTTCTGTGCTTGATCCAAATGTGGCCAATTTTTCCCCAGAGCACAGTGTATTGAAAATCATACCAAGGAAGAAAATGGAGGGGACTAGTAATTGTTCATGTTTCAGAAATTACAGAACTGAGAGCTTGACTGCTTCCTTCCCTTCCTGGGGATTTACATGGGGGAAGCAGAAGTGATTGGGGCTGAGGACATTCACA... | GTGCAAGCCGGAGTCCTGCCCCCATTTTCCTTGTTGGCTTGGGCACCTGTGTGCAGTGAACAACCTGCAAAACTCTTCTTAGTGGTCTTCTTCCTGCCAACCCAGGAACAGCAGCATTCAGCAGTTCTGTGCTTGATCCAAATGTGGCCAATTTTTCCCCAGAGCACAGTGTATTGAAAATCATACCAAGGAAGAAAATGGAGGGGACTAGTAATTGTTCATGTTTCAGAAATTACAGAACTGAGAGCTTGACTGCTTCCTTCCCTTCCTGGGGATTTACATGGGGGAAGCAGAAGTGATTGGGGCTGAGGACATTCACA... | pathogenic | 247,006 |
Assess the variant on chromosome 16, position 10902659, impacting CIITA (class II major histocompatibility complex transactivator): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['MHC_class_II_deficiency', 'MHC_class_II_deficiency_1', 'Rheumatoid_arthritis'] | ACACCTGTAATCCCAGCTACCAGGGAGGCTAGGGTGGGAGAATCGCTTGAACCTAAGAAGCAGAGGTTGCAGTGAGCCAAGATTGCGCCAGTGCACTCCAGCCTGGGCAACAGAGCTAGACTCTGTTTCAAAAAAAAAAAAAAATGTTTTCAAGATACAATAAAAGTGAAAGAATGGTACTATGAAGGTCCATATACCCACCATGTACCATTTTGATTCTACAATTAATGTTGGGTTTTATTCATCTTATCACATCTCTATTCATCTGTCCATCCCTCTATCCATCCACACACCCATTCATTATATTTTTGGTACATTTC... | ACACCTGTAATCCCAGCTACCAGGGAGGCTAGGGTGGGAGAATCGCTTGAACCTAAGAAGCAGAGGTTGCAGTGAGCCAAGATTGCGCCAGTGCACTCCAGCCTGGGCAACAGAGCTAGACTCTGTTTCAAAAAAAAAAAAAAATGTTTTCAAGATACAATAAAAGTGAAAGAATGGTACTATGAAGGTCCATATACCCACCATGTACCATTTTGATTCTACAATTAATGTTGGGTTTTATTCATCTTATCACATCTCTATTCATCTGTCCATCCCTCTATCCATCCACACACCCATTCATTATATTTTTGGTACATTTC... | pathogenic | 247,015 |
A mutation at chromosome position 10907447 on chromosome 16 in gene CIITA (class II major histocompatibility complex transactivator): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['MHC_class_II_deficiency'] | CCCATGACCTCCCCATGGTGAGTGAGTAGTGATCAAGCGAAGAAAAAGCTTAGTGAGTAAATGAAGGAATGAGAAAAGATGGCCATGCATGGTGCCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCCATTAAAAAATACAAAAATTAGCCAGACGTGGTAGTGGGTGCCTGTAATCCCAGCTACTTGGCAGGCCGAGGCAGGAGAATCGCCTAAACCCAGGAGGTGGAGGTTGCCGTGAGCTGAGATTGC... | CCCATGACCTCCCCATGGTGAGTGAGTAGTGATCAAGCGAAGAAAAAGCTTAGTGAGTAAATGAAGGAATGAGAAAAGATGGCCATGCATGGTGCCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCCATTAAAAAATACAAAAATTAGCCAGACGTGGTAGTGGGTGCCTGTAATCCCAGCTACTTGGCAGGCCGAGGCAGGAGAATCGCCTAAACCCAGGAGGTGGAGGTTGCCGTGAGCTGAGATTGC... | pathogenic | 247,025 |
Is the genetic mutation found on chromosome 16 at position 10907780, within the gene CIITA (class II major histocompatibility complex transactivator), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['MHC_class_II_deficiency', 'MHC_class_II_deficiency_1', 'Rheumatoid_arthritis'] | AGCCTGGGGCACAGGGCAGGATCCATCTCAAAAAAAAAAAAGAGAGAAAAGGTCTAAAAGGAGTGGACACTTAAACAAGAGAGACGATGAGTGAAGGAATGGGTGTGGAAATGAGTGAACTAATGAATGAGTGGTGGGTGACTGAATGAAGCAAATGATGAAGACTGTATGGGGGCCAGATGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGAACGATTGCTTGAGCCCAGGAGCTCAAGACCAGCCTGGGCAAAATAGTGAGAACTTATCTCCACAAAAAAACAAAAAAGAAAAATTAGCCAG... | AGCCTGGGGCACAGGGCAGGATCCATCTCAAAAAAAAAAAAGAGAGAAAAGGTCTAAAAGGAGTGGACACTTAAACAAGAGAGACGATGAGTGAAGGAATGGGTGTGGAAATGAGTGAACTAATGAATGAGTGGTGGGTGACTGAATGAAGCAAATGATGAAGACTGTATGGGGGCCAGATGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGAACGATTGCTTGAGCCCAGGAGCTCAAGACCAGCCTGGGCAAAATAGTGAGAACTTATCTCCACAAAAAAACAAAAAAGAAAAATTAGCCAG... | pathogenic | 247,029 |
Is the genetic variant on chromosome 16, position 11254998, gene SOCS1 (suppressor of cytokine signaling 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autoimmune_hemolytic_anemia', 'Autoimmune_thrombocytopenia', 'Autoinflammatory_syndrome_with_immunodeficiency'] | AGTATTACAACCAGATCCCCAAGCATTGCCATCTTGGATTTCTGTTTCTCCAGACACTGCCCACAGCAGGCAACAGACAGGAAAGAACAAGGACAGGACTTAATTAATCCACAGCAGAGAAGAAAGGGCAGGGGTGTGGCAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAGCAAGATTTTTGGAGATAGAGACAAGACATCACCTCCTTCCCTCCCACTTCACCTTATTAAGGGATGAAATTGCCAAAGCTCTCTGAGATCCTAAATCTCTTCTGGCCATCCTTAAAGTCCTGGAGCCTACTTAAT... | AGTATTACAACCAGATCCCCAAGCATTGCCATCTTGGATTTCTGTTTCTCCAGACACTGCCCACAGCAGGCAACAGACAGGAAAGAACAAGGACAGGACTTAATTAATCCACAGCAGAGAAGAAAGGGCAGGGGTGTGGCAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAGCAAGATTTTTGGAGATAGAGACAAGACATCACCTCCTTCCCTCCCACTTCACCTTATTAAGGGATGAAATTGCCAAAGCTCTCTGAGATCCTAAATCTCTTCTGGCCATCCTTAAAGTCCTGGAGCCTACTTAAT... | pathogenic | 247,066 |
Does the genetic variant at chromosome 16, position 11586204, impacting gene LITAF (lipopolysaccharide induced TNF factor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CTAAAGAAACACAGAACTAAGGAAGTCTATTTACCTGATAGACCGCCTCACCCACGGGGCTATTTTCACTGCTGTAAAAGCGAAAACAAATAGAGGACAAGTCACAGTGCCAAGAATACAGGACTTCCTCTTGCAGATCCTCTTTTTTCCACCCTCACTGTAGCTCTGGGGAAATTCCTATTCAGTGGGAGAAGTTTAAGTCACAAAACGGCACCAGCCCATTCTCAAAGTGCTATTATACACCTCTGAGCAGTGAGGATGGGTAATGTCAGCAAAATATGCACTGTTTATTTTCTTGAAAATTAACTTGGGCTGGAAAC... | CTAAAGAAACACAGAACTAAGGAAGTCTATTTACCTGATAGACCGCCTCACCCACGGGGCTATTTTCACTGCTGTAAAAGCGAAAACAAATAGAGGACAAGTCACAGTGCCAAGAATACAGGACTTCCTCTTGCAGATCCTCTTTTTTCCACCCTCACTGTAGCTCTGGGGAAATTCCTATTCAGTGGGAGAAGTTTAAGTCACAAAACGGCACCAGCCCATTCTCAAAGTGCTATTATACACCTCTGAGCAGTGAGGATGGGTAATGTCAGCAAAATATGCACTGTTTATTTTCTTGAAAATTAACTTGGGCTGGAAAC... | benign | 247,124 |
Does the variant on chromosome 16 at location 13926725 affecting gene ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cockayne_syndrome', 'Fanconi_anemia_complementation_group_Q', 'Xeroderma_pigmentosum,_group_F'] | CGTACATTGGTGATAAAGATAGTACCTTCCTCCTAGGATTGTCAGGGTGAAATGAAATGCTTATATGTAAAATACTTGGTAGCATGGCACATAGTCAGCATTCTATGATCTCTGTGATCTCTGCCTGTTGGTGTTACGATGTTCCTGTTCTCGGGCAGTTTAATGGAGGAGACAAGTAAAGAAGTAGTTATAGTACAGTATGGGTACAAAATGTCATAGGAACAAAAAAAACTAAAGTAGGCTTTTGTGGAGCTAAAACTCCTCCCAAAAACCTAACCTGCTTCTATTATTTTTATTTTTTGAAAAAGGAGTGTCTTGAG... | CGTACATTGGTGATAAAGATAGTACCTTCCTCCTAGGATTGTCAGGGTGAAATGAAATGCTTATATGTAAAATACTTGGTAGCATGGCACATAGTCAGCATTCTATGATCTCTGTGATCTCTGCCTGTTGGTGTTACGATGTTCCTGTTCTCGGGCAGTTTAATGGAGGAGACAAGTAAAGAAGTAGTTATAGTACAGTATGGGTACAAAATGTCATAGGAACAAAAAAAACTAAAGTAGGCTTTTGTGGAGCTAAAACTCCTCCCAAAAACCTAACCTGCTTCTATTATTTTTATTTTTTGAAAAAGGAGTGTCTTGAG... | pathogenic | 247,143 |
Gene ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit) variant at chromosome 16, position 13930831—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cockayne_syndrome', 'Fanconi_anemia_complementation_group_Q', 'XFE_progeroid_syndrome', 'Xeroderma_pigmentosum,_group_F'] | GATTAATATTATTACAGATACATAAACGTCTAGTATTGAATTGGAGATCCAGAAAATGCTGACCTTTTAGAAATTCTTGGCAGCCTTTTTGTCATATTCTGGTAGAAAAAGTTTCTGTCTTTTAAACTCTGAGTCAATCTCTATGTCACTGGCAATAATGCGTGGCGATTATAAAAAAGGAAAAAATTGACTTATTTCTCTGATTCTTCAAAAAAGTCAGTTGACTATGAATATTGATACATAAAACTAATTTTATATATTCTGTTCCTCTGTGCTTAAAGTTTTTTATGATTTAGTCCATGGTGATTTTTTTTAAATCC... | GATTAATATTATTACAGATACATAAACGTCTAGTATTGAATTGGAGATCCAGAAAATGCTGACCTTTTAGAAATTCTTGGCAGCCTTTTTGTCATATTCTGGTAGAAAAAGTTTCTGTCTTTTAAACTCTGAGTCAATCTCTATGTCACTGGCAATAATGCGTGGCGATTATAAAAAAGGAAAAAATTGACTTATTTCTCTGATTCTTCAAAAAAGTCAGTTGACTATGAATATTGATACATAAAACTAATTTTATATATTCTGTTCCTCTGTGCTTAAAGTTTTTTATGATTTAGTCCATGGTGATTTTTTTTAAATCC... | pathogenic | 247,151 |
A genetic alteration at chromosome 16, position 13930854, in gene ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cockayne_syndrome', 'Fanconi_anemia_complementation_group_Q', 'XFE_progeroid_syndrome', 'Xeroderma_pigmentosum,_group_F'] | AAACGTCTAGTATTGAATTGGAGATCCAGAAAATGCTGACCTTTTAGAAATTCTTGGCAGCCTTTTTGTCATATTCTGGTAGAAAAAGTTTCTGTCTTTTAAACTCTGAGTCAATCTCTATGTCACTGGCAATAATGCGTGGCGATTATAAAAAAGGAAAAAATTGACTTATTTCTCTGATTCTTCAAAAAAGTCAGTTGACTATGAATATTGATACATAAAACTAATTTTATATATTCTGTTCCTCTGTGCTTAAAGTTTTTTATGATTTAGTCCATGGTGATTTTTTTTAAATCCCACACAATCTTTTAATAGAATGT... | AAACGTCTAGTATTGAATTGGAGATCCAGAAAATGCTGACCTTTTAGAAATTCTTGGCAGCCTTTTTGTCATATTCTGGTAGAAAAAGTTTCTGTCTTTTAAACTCTGAGTCAATCTCTATGTCACTGGCAATAATGCGTGGCGATTATAAAAAAGGAAAAAATTGACTTATTTCTCTGATTCTTCAAAAAAGTCAGTTGACTATGAATATTGATACATAAAACTAATTTTATATATTCTGTTCCTCTGTGCTTAAAGTTTTTTATGATTTAGTCCATGGTGATTTTTTTTAAATCCCACACAATCTTTTAATAGAATGT... | pathogenic | 247,152 |
The chromosome 16, position 13934285 genetic variant in gene ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cockayne_syndrome', 'Fanconi_anemia_complementation_group_Q', 'Xeroderma_pigmentosum,_group_F'] | AGTAAAAAAGAAAAAATATCTGAAAAAATGGAAATTAAAGAAGGGGAAGGTATCTTGTGGGGTTAAGTCTTTAAATGTGTTTTTTATTTCGGTATTTGGTATGGAAATTTAAAGTGCAATTTAAAGTCTTCTTTGGCCATGTGAAAAGTGTGTTCCTTGAAGATAAATGTATGTATGTTTGTTATATGTAACATGTAATGTATGTTGAAAGTATATATGTAAAGTATATGTGTAATGTATGTCGAAGTATACAGCATGGCAAGTCTTGCAGTCTATTGCCCAGGGCTTCCAAATAACAGATGTCAAATATTGATCAAAAG... | AGTAAAAAAGAAAAAATATCTGAAAAAATGGAAATTAAAGAAGGGGAAGGTATCTTGTGGGGTTAAGTCTTTAAATGTGTTTTTTATTTCGGTATTTGGTATGGAAATTTAAAGTGCAATTTAAAGTCTTCTTTGGCCATGTGAAAAGTGTGTTCCTTGAAGATAAATGTATGTATGTTTGTTATATGTAACATGTAATGTATGTTGAAAGTATATATGTAAAGTATATGTGTAATGTATGTCGAAGTATACAGCATGGCAAGTCTTGCAGTCTATTGCCCAGGGCTTCCAAATAACAGATGTCAAATATTGATCAAAAG... | pathogenic | 247,163 |
Does the genetic variant at chromosome 16, position 13935330, impacting gene ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cockayne_syndrome', 'Fanconi_anemia_complementation_group_Q', 'XFE_progeroid_syndrome', 'Xeroderma_pigmentosum,_group_F'] | AAATATACTAGAATGAGGCAAATATGGGTTTTATTCCAGCATCTTATCTAGTGATACCGTAAATATCACTAGTTTTTTAAGGCATGGGATAGGGTTAATGCCTGCTTTCTGCCTAGTTTAAAGGTCTGTTTCAAAACTTAACTGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCCAGTGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAATCCTCTCTCTACTAAAAATACAAAATTAGCCAGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTTG... | AAATATACTAGAATGAGGCAAATATGGGTTTTATTCCAGCATCTTATCTAGTGATACCGTAAATATCACTAGTTTTTTAAGGCATGGGATAGGGTTAATGCCTGCTTTCTGCCTAGTTTAAAGGTCTGTTTCAAAACTTAACTGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCCAGTGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAATCCTCTCTCTACTAAAAATACAAAATTAGCCAGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTTG... | pathogenic | 247,168 |
The chromosome 16, position 13935413 genetic variant in gene ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cockayne_syndrome', 'Fanconi_anemia_complementation_group_Q', 'Precursor_B-cell_acute_lymphoblastic_leukemia', 'Xeroderma_pigmentosum,_group_F'] | ATGGGATAGGGTTAATGCCTGCTTTCTGCCTAGTTTAAAGGTCTGTTTCAAAACTTAACTGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCCAGTGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAATCCTCTCTCTACTAAAAATACAAAATTAGCCAGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTTGCTTGAACCCAGGAGGCAGAGGTTGCAACGAGCCGAGATCATGCCATTGCCTCCAGCCTGGG... | ATGGGATAGGGTTAATGCCTGCTTTCTGCCTAGTTTAAAGGTCTGTTTCAAAACTTAACTGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCCAGTGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAATCCTCTCTCTACTAAAAATACAAAATTAGCCAGGAGTGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTTGCTTGAACCCAGGAGGCAGAGGTTGCAACGAGCCGAGATCATGCCATTGCCTCCAGCCTGGG... | pathogenic | 247,170 |
Classify the chromosome 16 variant at position 13935661 affecting gene ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cockayne_syndrome', 'Fanconi_anemia_complementation_group_Q', 'Spastic_ataxia', 'Xeroderma_pigmentosum,_group_F', 'Xeroderma_pigmentosum,_type_F/Cockayne_syndrome'] | CAGGAGACTTGCTTGAACCCAGGAGGCAGAGGTTGCAACGAGCCGAGATCATGCCATTGCCTCCAGCCTGGGCAGTAAGAGTGAAACTTCGTCTTAAAAAAAAAAAATCTTTTTAAAGAAAACTTAATTGAATATATTATTGATGTGTTTGTGTTTGAATGCGTATAGGAACAAAAAATTTAATTGTTGTCTACTTTTATCCATGTTCAGGATTATGAAAGTCATGGGGATTTTAGAAATAGTAAATACTGTCATTGTGTACCGATGCCTTTGTTTTGTATAGCTGCTTATATATAGTGTCACAGAAACAACTAACACAG... | CAGGAGACTTGCTTGAACCCAGGAGGCAGAGGTTGCAACGAGCCGAGATCATGCCATTGCCTCCAGCCTGGGCAGTAAGAGTGAAACTTCGTCTTAAAAAAAAAAAATCTTTTTAAAGAAAACTTAATTGAATATATTATTGATGTGTTTGTGTTTGAATGCGTATAGGAACAAAAAATTTAATTGTTGTCTACTTTTATCCATGTTCAGGATTATGAAAGTCATGGGGATTTTAGAAATAGTAAATACTGTCATTGTGTACCGATGCCTTTGTTTTGTATAGCTGCTTATATATAGTGTCACAGAAACAACTAACACAG... | pathogenic | 247,172 |
The mutation in gene ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit) at chromosome 16, position 13950918—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTGTGTAGGAAATCATGTTCTGACCCTTTGTCTACAAAGGAGCCTTCTGGAACACTGAGAAGAAACATCTCTTTGCCATTCCTGACCAGTTCTCTCTACCACATTTTCTTCAGCTCCATACTTCTGCCTGTCTGCTCTAAGGAAATTTCATGGAGCCTTCCTACTACTAATTCAAGACAGTCTCCTCAAAAACTGGTTGACTAGTCTTCTAATGACCCTAACATATGTAGCATATACTATAATTTCATTGTTCCAAATTAGTATTTTTAAAGCAAAATGAATTACCTGTTTGCAAAAGTTAATGATGAAGGAGCTCTTAG... | TTGTGTAGGAAATCATGTTCTGACCCTTTGTCTACAAAGGAGCCTTCTGGAACACTGAGAAGAAACATCTCTTTGCCATTCCTGACCAGTTCTCTCTACCACATTTTCTTCAGCTCCATACTTCTGCCTGTCTGCTCTAAGGAAATTTCATGGAGCCTTCCTACTACTAATTCAAGACAGTCTCCTCAAAAACTGGTTGACTAGTCTTCTAATGACCCTAACATATGTAGCATATACTATAATTTCATTGTTCCAAATTAGTATTTTTAAAGCAAAATGAATTACCTGTTTGCAAAAGTTAATGATGAAGGAGCTCTTAG... | benign | 247,208 |
Does the genetic variant at chromosome 16, position 14447001, impacting gene PARN (poly(A)-specific ribonuclease), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_6', 'Pulmonary_fibrosis', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_4'] | GGACTACATGCCCGTGCAGCTAATATTTAAATTTTTTTTTTTTTTTTTTTTTTTTTGTAGAGAAAAGGTGTCACTATATTGCCCAGGCTGGTCTCAAACTCCCGGGCTCAGGTCATCCTCCTGCTTCAGCTTCCCAGAGTGGTGGGATTATAGTTGTGAGCTACCATGCCTGGCCCCCTCCAATAGTTAAGTCAGGGAAAGGACAGGAGGTAAGTAAAGAGAGACACCCAGAGTCAAGAGACAGCTAAAACATCCAATCCAGGCTTCAAACACAAGTTTAAGTTTTCTGTTGAAATTCAGCTTCAGCATAATGTACAAAA... | GGACTACATGCCCGTGCAGCTAATATTTAAATTTTTTTTTTTTTTTTTTTTTTTTTGTAGAGAAAAGGTGTCACTATATTGCCCAGGCTGGTCTCAAACTCCCGGGCTCAGGTCATCCTCCTGCTTCAGCTTCCCAGAGTGGTGGGATTATAGTTGTGAGCTACCATGCCTGGCCCCCTCCAATAGTTAAGTCAGGGAAAGGACAGGAGGTAAGTAAAGAGAGACACCCAGAGTCAAGAGACAGCTAAAACATCCAATCCAGGCTTCAAACACAAGTTTAAGTTTTCTGTTGAAATTCAGCTTCAGCATAATGTACAAAA... | pathogenic | 247,224 |
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