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 in gene DICER1 (dicer 1, ribonuclease III), located at chromosome 14 position 95132691: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CCAGTATGTGAAGCACACTAGTAGGCTGGGCTGTTTCAGTTCAGTGAGGAAGCGCCTCTTAATCACTGTGTATCCCCCAATGACCAACACACCAAAAGCCCCAGTACATGCTGGCTACATGGAAACATGTAAGTTAGAGGAGCCTCCAGCACATGCTGGCTGCATGGAAACATTCAGTTAGAGGAAGTCTCCGTCAAAGACCTAAACAGCTCAAGCAAGAAATTTTTCCAGTTTCAAGACATTTAACTCAAGACTAAATTTTTTGAAAGCGCATTATCAGCAAGTTGGAAATAGGTCATAGGAATTTGTGTTTTTCAAGC... | CCAGTATGTGAAGCACACTAGTAGGCTGGGCTGTTTCAGTTCAGTGAGGAAGCGCCTCTTAATCACTGTGTATCCCCCAATGACCAACACACCAAAAGCCCCAGTACATGCTGGCTACATGGAAACATGTAAGTTAGAGGAGCCTCCAGCACATGCTGGCTGCATGGAAACATTCAGTTAGAGGAAGTCTCCGTCAAAGACCTAAACAGCTCAAGCAAGAAATTTTTCCAGTTTCAAGACATTTAACTCAAGACTAAATTTTTTGAAAGCGCATTATCAGCAAGTTGGAAATAGGTCATAGGAATTTGTGTTTTTCAAGC... | benign | 226,409 |
Clinical classification of chromosome 14, position 95133386, gene DICER1 (dicer 1, ribonuclease III): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['DICER1-related_tumor_predisposition', 'Global_developmental_delay_-_lung_cysts_-_overgrowth_-_Wilms_tumor_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAGGTAAGACTTACAGTAAGATATAGTACATCAGGACTAGCTTCTAGGCTGATTAAGTATAGGAAATTAGTTTTCAAACCTAAATCAGACAACCAAGGCTACAGATCATCTTACAAACCAAGTCAAGAACTTGTAGGGATTTATAAAGTGAAATTTCTCTACAAGTCTTACCTGGTGCTTAGTAAACTCTTGGTTCCATCTCTCTTTTGTCCAAGATGCATTTACTTCTAGGTTTGAGTATTCCCCAACCTTGAGATCTGAATGAGTTCTGACAGCTGACACTTGTTGAGCAACCTGGTTTGCTAATTACAAATATAATA... | AAGGTAAGACTTACAGTAAGATATAGTACATCAGGACTAGCTTCTAGGCTGATTAAGTATAGGAAATTAGTTTTCAAACCTAAATCAGACAACCAAGGCTACAGATCATCTTACAAACCAAGTCAAGAACTTGTAGGGATTTATAAAGTGAAATTTCTCTACAAGTCTTACCTGGTGCTTAGTAAACTCTTGGTTCCATCTCTCTTTTGTCCAAGATGCATTTACTTCTAGGTTTGAGTATTCCCCAACCTTGAGATCTGAATGAGTTCTGACAGCTGACACTTGTTGAGCAACCTGGTTTGCTAATTACAAATATAATA... | pathogenic | 226,425 |
Assess the variant on chromosome 14, position 96837777, impacting VRK1 (VRK serine/threonine kinase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Inborn_genetic_diseases', 'Pontocerebellar_hypoplasia_type_1A'] | CCTTTTCTAGTCCTATTGCTTTACCTGGGTGACTTCTCAGATCCATTCATTTCTCTCCATCTTTGCAGCCACTGTCCTGGTCAGGTCATTATCATGTCTTGTCTGGACTCTGACTGTAGCACTGAATCTTCTCTGTCCCAGTCTTGCCACCTTGCACACCATTGTTTTCAGTATGGCTTTTATGACCAAGTATACTGATCAGATAATACGATCATCCTGTTTAAACCTCTCTGATGACTCTCCAGTGTCCTTCAAATAAGGTGCCAGACTTTTAAAGAGTGGCATACAAGTCCCTTCTTATACAACGTTTATCTTCATCC... | CCTTTTCTAGTCCTATTGCTTTACCTGGGTGACTTCTCAGATCCATTCATTTCTCTCCATCTTTGCAGCCACTGTCCTGGTCAGGTCATTATCATGTCTTGTCTGGACTCTGACTGTAGCACTGAATCTTCTCTGTCCCAGTCTTGCCACCTTGCACACCATTGTTTTCAGTATGGCTTTTATGACCAAGTATACTGATCAGATAATACGATCATCCTGTTTAAACCTCTCTGATGACTCTCCAGTGTCCTTCAAATAAGGTGCCAGACTTTTAAAGAGTGGCATACAAGTCCCTTCTTATACAACGTTTATCTTCATCC... | pathogenic | 226,540 |
Considering the variant on chromosome 14, location 96846097, involving gene VRK1 (VRK serine/threonine kinase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Pontocerebellar_hypoplasia_type_1A'] | TTCAAACCTGAATTATATAAATGAGCTATTCCAAAGGTAAGCTTTGGAGAGGAACTTTACCAGAATTTCTCCTTTTGAATTTCTTTTTCTTAACGCTGATTCTGTGATTCCTACCAAAGACCTATTCTTAGCCATTGGCTGGAAACACTGCAAGTGTCTCTTGCAAATGCTTGCAAGTGTCAAGCTATTATTGCTGCTAGGAAAGGAGCCATAGGTTATAGAGGAACTTGGGTACTGAGTCCATAAGTTAAGGAATCAGCACTCATACTTTCAGTATGTTGGTTAGTTCCTCCTTCTTAAGGAGTTGTTGCATGCCAAGC... | TTCAAACCTGAATTATATAAATGAGCTATTCCAAAGGTAAGCTTTGGAGAGGAACTTTACCAGAATTTCTCCTTTTGAATTTCTTTTTCTTAACGCTGATTCTGTGATTCCTACCAAAGACCTATTCTTAGCCATTGGCTGGAAACACTGCAAGTGTCTCTTGCAAATGCTTGCAAGTGTCAAGCTATTATTGCTGCTAGGAAAGGAGCCATAGGTTATAGAGGAACTTGGGTACTGAGTCCATAAGTTAAGGAATCAGCACTCATACTTTCAGTATGTTGGTTAGTTCCTCCTTCTTAAGGAGTTGTTGCATGCCAAGC... | pathogenic | 226,544 |
Is the genetic mutation found on chromosome 14 at position 96847249, within the gene VRK1 (VRK serine/threonine kinase 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCTTTAAAAACTTTTTTTAATTCCCAATAAATAATGACCAACACAAAATACCAGACATTAAATAAATACTAATTTTAATCAGATGAAATTTACTATTTAAAAAGTCCACAGAATTATAAGATCTTTTCCACTCTTACATATTTATTTAACAAGGCAAAACTGCTGACAGGCTGTTATTTCTTGTTTGTGCAAATACGTTTTTGTGAATGTATGTCTCTTTAGTAATAATTTTAATTGTTAATATCTCTAAAAACATAAAATGAATGTAGTCCATAACATTGGTAGAAAACAATTGTTAATGAGCCCCATGTTTGGTTTGA... | GCTTTAAAAACTTTTTTTAATTCCCAATAAATAATGACCAACACAAAATACCAGACATTAAATAAATACTAATTTTAATCAGATGAAATTTACTATTTAAAAAGTCCACAGAATTATAAGATCTTTTCCACTCTTACATATTTATTTAACAAGGCAAAACTGCTGACAGGCTGTTATTTCTTGTTTGTGCAAATACGTTTTTGTGAATGTATGTCTCTTTAGTAATAATTTTAATTGTTAATATCTCTAAAAACATAAAATGAATGTAGTCCATAACATTGGTAGAAAACAATTGTTAATGAGCCCCATGTTTGGTTTGA... | benign | 226,548 |
The mutation in gene VRK1 (VRK serine/threonine kinase 1) at chromosome 14, position 96847330—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Pontocerebellar_hypoplasia_type_1A'] | GATGAAATTTACTATTTAAAAAGTCCACAGAATTATAAGATCTTTTCCACTCTTACATATTTATTTAACAAGGCAAAACTGCTGACAGGCTGTTATTTCTTGTTTGTGCAAATACGTTTTTGTGAATGTATGTCTCTTTAGTAATAATTTTAATTGTTAATATCTCTAAAAACATAAAATGAATGTAGTCCATAACATTGGTAGAAAACAATTGTTAATGAGCCCCATGTTTGGTTTGACAAATGTAGGAATCTGTGTCAGAAAGGAAGGATGCAGGTTAGTGGACAGTGCATGCTTGTTCAGGAGATGCATAATATGGG... | GATGAAATTTACTATTTAAAAAGTCCACAGAATTATAAGATCTTTTCCACTCTTACATATTTATTTAACAAGGCAAAACTGCTGACAGGCTGTTATTTCTTGTTTGTGCAAATACGTTTTTGTGAATGTATGTCTCTTTAGTAATAATTTTAATTGTTAATATCTCTAAAAACATAAAATGAATGTAGTCCATAACATTGGTAGAAAACAATTGTTAATGAGCCCCATGTTTGGTTTGACAAATGTAGGAATCTGTGTCAGAAAGGAAGGATGCAGGTTAGTGGACAGTGCATGCTTGTTCAGGAGATGCATAATATGGG... | pathogenic | 226,550 |
Does the genetic variant at chromosome 14, position 96856575, impacting gene VRK1 (VRK serine/threonine kinase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_10', 'Pontocerebellar_hypoplasia_type_1A'] | AAGCCAAGTTTATTAGCTTTGTATGCTAATCAGACCCACATGTATATGCCCACGAATAAGTATGTATATAATATTAAAATTTACTTTTAATCATGAAGACTTGGCTTTAGAATATAGTATTTAGATATAGATAAAAGCCTGATCTAACAGTTCTTTAGATCATTATTATGATGTATGAAATGTTTTTATAAAGTAAATTGAAATTTGATTATTTTACAAGTGAAGAAACAGAGGAATAGAAGGTAACTAACATATCATGTGTCAGCATCATTAGCAGTCTTCTACTGGGTGTGCTTTTCTGTGTGGAAAGTAGCAGTTGT... | AAGCCAAGTTTATTAGCTTTGTATGCTAATCAGACCCACATGTATATGCCCACGAATAAGTATGTATATAATATTAAAATTTACTTTTAATCATGAAGACTTGGCTTTAGAATATAGTATTTAGATATAGATAAAAGCCTGATCTAACAGTTCTTTAGATCATTATTATGATGTATGAAATGTTTTTATAAAGTAAATTGAAATTTGATTATTTTACAAGTGAAGAAACAGAGGAATAGAAGGTAACTAACATATCATGTGTCAGCATCATTAGCAGTCTTCTACTGGGTGTGCTTTTCTGTGTGGAAAGTAGCAGTTGT... | pathogenic | 226,560 |
Is chromosome 14, position 96876033, gene VRK1 (VRK serine/threonine kinase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_10', 'Pontocerebellar_hypoplasia_type_1A'] | TATGTAATTTACCTGCATGGAGATTAAGAAAGCCCCCTTTTATTAAATAAGCTTGAAAACTAGATGAATGCACTTAGGTTCTTGGGTAGAATGTATTGGATAGCTAGCTCCCTTTATGATGAGCATTTAAAAATCTGCTCTCCAAAAACTGGGAAATGCATTCTCTGCTGTATGGAAAGCAATATAGTACTGAAATATTCCTCCTTAATTTTGGTCTGAACAAACAAAAGTGTCTGTGTTTATTCTTGCCTAATGCATCACAAATCTGCTGACATGCTAACCTTGGAGTCTTGGCTGGCGTTAATCAGGCCTGTGCACCG... | TATGTAATTTACCTGCATGGAGATTAAGAAAGCCCCCTTTTATTAAATAAGCTTGAAAACTAGATGAATGCACTTAGGTTCTTGGGTAGAATGTATTGGATAGCTAGCTCCCTTTATGATGAGCATTTAAAAATCTGCTCTCCAAAAACTGGGAAATGCATTCTCTGCTGTATGGAAAGCAATATAGTACTGAAATATTCCTCCTTAATTTTGGTCTGAACAAACAAAAGTGTCTGTGTTTATTCTTGCCTAATGCATCACAAATCTGCTGACATGCTAACCTTGGAGTCTTGGCTGGCGTTAATCAGGCCTGTGCACCG... | pathogenic | 226,568 |
Considering the variant on chromosome 14, location 96876054, involving gene VRK1 (VRK serine/threonine kinase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_10', 'Pontocerebellar_hypoplasia_type_1A'] | GATTAAGAAAGCCCCCTTTTATTAAATAAGCTTGAAAACTAGATGAATGCACTTAGGTTCTTGGGTAGAATGTATTGGATAGCTAGCTCCCTTTATGATGAGCATTTAAAAATCTGCTCTCCAAAAACTGGGAAATGCATTCTCTGCTGTATGGAAAGCAATATAGTACTGAAATATTCCTCCTTAATTTTGGTCTGAACAAACAAAAGTGTCTGTGTTTATTCTTGCCTAATGCATCACAAATCTGCTGACATGCTAACCTTGGAGTCTTGGCTGGCGTTAATCAGGCCTGTGCACCGGCAGGAAAGATGTACCTAATG... | GATTAAGAAAGCCCCCTTTTATTAAATAAGCTTGAAAACTAGATGAATGCACTTAGGTTCTTGGGTAGAATGTATTGGATAGCTAGCTCCCTTTATGATGAGCATTTAAAAATCTGCTCTCCAAAAACTGGGAAATGCATTCTCTGCTGTATGGAAAGCAATATAGTACTGAAATATTCCTCCTTAATTTTGGTCTGAACAAACAAAAGTGTCTGTGTTTATTCTTGCCTAATGCATCACAAATCTGCTGACATGCTAACCTTGGAGTCTTGGCTGGCGTTAATCAGGCCTGTGCACCGGCAGGAAAGATGTACCTAATG... | pathogenic | 226,569 |
Clinically, how would you classify the variant at chromosome 14, position 96876103, gene VRK1 (VRK serine/threonine kinase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_10', 'Pontocerebellar_hypoplasia_type_1A'] | CACTTAGGTTCTTGGGTAGAATGTATTGGATAGCTAGCTCCCTTTATGATGAGCATTTAAAAATCTGCTCTCCAAAAACTGGGAAATGCATTCTCTGCTGTATGGAAAGCAATATAGTACTGAAATATTCCTCCTTAATTTTGGTCTGAACAAACAAAAGTGTCTGTGTTTATTCTTGCCTAATGCATCACAAATCTGCTGACATGCTAACCTTGGAGTCTTGGCTGGCGTTAATCAGGCCTGTGCACCGGCAGGAAAGATGTACCTAATGCACTCCATCAGTGCAGTTTGCATATGGAAGTTCTCACAGGGGAGCTGCC... | CACTTAGGTTCTTGGGTAGAATGTATTGGATAGCTAGCTCCCTTTATGATGAGCATTTAAAAATCTGCTCTCCAAAAACTGGGAAATGCATTCTCTGCTGTATGGAAAGCAATATAGTACTGAAATATTCCTCCTTAATTTTGGTCTGAACAAACAAAAGTGTCTGTGTTTATTCTTGCCTAATGCATCACAAATCTGCTGACATGCTAACCTTGGAGTCTTGGCTGGCGTTAATCAGGCCTGTGCACCGGCAGGAAAGATGTACCTAATGCACTCCATCAGTGCAGTTTGCATATGGAAGTTCTCACAGGGGAGCTGCC... | pathogenic | 226,571 |
A genetic variant on chromosome 14, position 99174374, affects the gene BCL11B (BCL11 transcription factor B). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Immunodeficiency_49', 'Intellectual_developmental_disorder_with_speech_delay,_dysmorphic_facies,_and_t-cell_abnormalities'] | CAAGGTTGTGCTGGGTTTATTTCTTCATTTGATTGGGTCTTATGGCATTTCATATCCTCTATCTTCAACCAGAATTTTTTTTTTTTTTACTTAAAGTAAATGTGGCTTTGTTAGTTTCTAAAGAATGTACTTTTCTTGTTTTACTTTTTTAAAAAGTCTTTTCATTTCAAAAAAAAAGTTTTGCATTTGTCTCAAGAGACTCAAATAGGAAGATCAGTTTTCAAGGCACTCACATCAAATTGAATGGCAGTAGAAAAACTGTCCTATAAATTATTATTTTATTTTGTTCTTTATAGTGCCAGTATTGTGAATGCCACGCT... | CAAGGTTGTGCTGGGTTTATTTCTTCATTTGATTGGGTCTTATGGCATTTCATATCCTCTATCTTCAACCAGAATTTTTTTTTTTTTTACTTAAAGTAAATGTGGCTTTGTTAGTTTCTAAAGAATGTACTTTTCTTGTTTTACTTTTTTAAAAAGTCTTTTCATTTCAAAAAAAAAGTTTTGCATTTGTCTCAAGAGACTCAAATAGGAAGATCAGTTTTCAAGGCACTCACATCAAATTGAATGGCAGTAGAAAAACTGTCCTATAAATTATTATTTTATTTTGTTCTTTATAGTGCCAGTATTGTGAATGCCACGCT... | pathogenic | 226,578 |
Gene BCL11B (BCL11 transcription factor B) variant at chromosome position 99174474 on chromosome 14: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Intellectual_developmental_disorder_with_speech_delay,_dysmorphic_facies,_and_t-cell_abnormalities'] | TGTGGCTTTGTTAGTTTCTAAAGAATGTACTTTTCTTGTTTTACTTTTTTAAAAAGTCTTTTCATTTCAAAAAAAAAGTTTTGCATTTGTCTCAAGAGACTCAAATAGGAAGATCAGTTTTCAAGGCACTCACATCAAATTGAATGGCAGTAGAAAAACTGTCCTATAAATTATTATTTTATTTTGTTCTTTATAGTGCCAGTATTGTGAATGCCACGCTTAGCAATACTGACACTCAATCTCAGCTGTCCCTTACAGTTTAACCCACCTCTGGGCCAAAGAGAAGAATATGCTGCAATTTCTTGTTTAGAAGCCATTTA... | TGTGGCTTTGTTAGTTTCTAAAGAATGTACTTTTCTTGTTTTACTTTTTTAAAAAGTCTTTTCATTTCAAAAAAAAAGTTTTGCATTTGTCTCAAGAGACTCAAATAGGAAGATCAGTTTTCAAGGCACTCACATCAAATTGAATGGCAGTAGAAAAACTGTCCTATAAATTATTATTTTATTTTGTTCTTTATAGTGCCAGTATTGTGAATGCCACGCTTAGCAATACTGACACTCAATCTCAGCTGTCCCTTACAGTTTAACCCACCTCTGGGCCAAAGAGAAGAATATGCTGCAATTTCTTGTTTAGAAGCCATTTA... | pathogenic | 226,582 |
Variant in BCL11B (BCL11 transcription factor B), chromosome 14, position 99174870—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_developmental_disorder_with_speech_delay,_dysmorphic_facies,_and_t-cell_abnormalities'] | TACCTTCCAACCTAATGAGATAGGAAAAAAAAAATAAAAACCTGGGAAGTAGCGCTGGGCACCTTCTGATGGAACTCATCCCCTGCTTTTTCAGTAAAAGAGAATAGAAATTTGCAAGATCCCCACCCCACCCATCCCTACAATATCATCAGTGTGCATTAAATGAGAGAACACTAACTTCAATTAATTAGGGCATTCGTCTGCTTGGGAAATGATGGATGACCCCTTGTAGCAACATAGGATTTGAGATTTATGTGGTGGGGGTGATTTAAAAAAAGAGAGAAGCCGTCAAGCCAGAAAACGCCTAAAAGAACACCGCT... | TACCTTCCAACCTAATGAGATAGGAAAAAAAAAATAAAAACCTGGGAAGTAGCGCTGGGCACCTTCTGATGGAACTCATCCCCTGCTTTTTCAGTAAAAGAGAATAGAAATTTGCAAGATCCCCACCCCACCCATCCCTACAATATCATCAGTGTGCATTAAATGAGAGAACACTAACTTCAATTAATTAGGGCATTCGTCTGCTTGGGAAATGATGGATGACCCCTTGTAGCAACATAGGATTTGAGATTTATGTGGTGGGGGTGATTTAAAAAAAGAGAGAAGCCGTCAAGCCAGAAAACGCCTAAAAGAACACCGCT... | pathogenic | 226,587 |
Assess the variant on chromosome 14, position 99174942, impacting BCL11B (BCL11 transcription factor B): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Immunodeficiency_49'] | AACTCATCCCCTGCTTTTTCAGTAAAAGAGAATAGAAATTTGCAAGATCCCCACCCCACCCATCCCTACAATATCATCAGTGTGCATTAAATGAGAGAACACTAACTTCAATTAATTAGGGCATTCGTCTGCTTGGGAAATGATGGATGACCCCTTGTAGCAACATAGGATTTGAGATTTATGTGGTGGGGGTGATTTAAAAAAAGAGAGAAGCCGTCAAGCCAGAAAACGCCTAAAAGAACACCGCTAGTTTCTTCCTTTCTGTGTCACTGCAGGCCACCCCATCTCCCCAAAAAGGTACCCTCAGCCCATTTTATGTA... | AACTCATCCCCTGCTTTTTCAGTAAAAGAGAATAGAAATTTGCAAGATCCCCACCCCACCCATCCCTACAATATCATCAGTGTGCATTAAATGAGAGAACACTAACTTCAATTAATTAGGGCATTCGTCTGCTTGGGAAATGATGGATGACCCCTTGTAGCAACATAGGATTTGAGATTTATGTGGTGGGGGTGATTTAAAAAAAGAGAGAAGCCGTCAAGCCAGAAAACGCCTAAAAGAACACCGCTAGTTTCTTCCTTTCTGTGTCACTGCAGGCCACCCCATCTCCCCAAAAAGGTACCCTCAGCCCATTTTATGTA... | pathogenic | 226,590 |
Evaluate this variant at chromosome 14, position 99175206, gene BCL11B (BCL11 transcription factor B): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TGTCACTGCAGGCCACCCCATCTCCCCAAAAAGGTACCCTCAGCCCATTTTATGTAGCCTAATCTACAGCGAATAGCAGCCATGGCACCCCAGGGCACACCAACAGGATAGTATCTGCTGGTCATGCACAACCTCAGAATGCTGTCGGGCCATTTCCCAGAGGAGCCCTCCAAAAACCCTATCTCTGGCGGCGCTGAGTCTGTGGGGTGCCTCCCCCAGCACCACCACTCAAGGTTTCCCTTATGTAATATGAAAGCCGAAATCAACACAGAAAAGGCCGCTTGACTCGGGACGACATGAGTGCTACATCTCCATTCCAG... | TGTCACTGCAGGCCACCCCATCTCCCCAAAAAGGTACCCTCAGCCCATTTTATGTAGCCTAATCTACAGCGAATAGCAGCCATGGCACCCCAGGGCACACCAACAGGATAGTATCTGCTGGTCATGCACAACCTCAGAATGCTGTCGGGCCATTTCCCAGAGGAGCCCTCCAAAAACCCTATCTCTGGCGGCGCTGAGTCTGTGGGGTGCCTCCCCCAGCACCACCACTCAAGGTTTCCCTTATGTAATATGAAAGCCGAAATCAACACAGAAAAGGCCGCTTGACTCGGGACGACATGAGTGCTACATCTCCATTCCAG... | benign | 226,591 |
A genetic variant on chromosome 14, position 100239703, affects the gene YY1 (YY1 transcription factor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Inborn_genetic_diseases'] | AATCTTTGTTTTGCTTTAAGGCAAATTGTCAGGTCGACCAAAAGGACAGATAAGAGCAGAAACACTTCGCTGCAATGTAACTCATTCAGGAAGGTTTAACTTGCCGCTAATCCGTGCCACAAAAAAAAATCTAGGCTCTGTTGCAGGTACAATGGAGGACACGGCTGAAAAAATTTGGAATTTTAAATGAGACAAATGCAAAACCTGGTGGGCGTAAAAAGGAGCACCTATGAAAGTGACAAATAGGGGGAAAGGGTGGGCAAGGGAAACAATGGCTGACTGGAGAGCAAAGAAGGGGAAGCTCAGGAGAAAATTTTAGA... | AATCTTTGTTTTGCTTTAAGGCAAATTGTCAGGTCGACCAAAAGGACAGATAAGAGCAGAAACACTTCGCTGCAATGTAACTCATTCAGGAAGGTTTAACTTGCCGCTAATCCGTGCCACAAAAAAAAATCTAGGCTCTGTTGCAGGTACAATGGAGGACACGGCTGAAAAAATTTGGAATTTTAAATGAGACAAATGCAAAACCTGGTGGGCGTAAAAAGGAGCACCTATGAAAGTGACAAATAGGGGGAAAGGGTGGGCAAGGGAAACAATGGCTGACTGGAGAGCAAAGAAGGGGAAGCTCAGGAGAAAATTTTAGA... | pathogenic | 226,660 |
Evaluate this variant at chromosome 14, position 101983001, gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | ACTGGTCAGTACCACTTTCTCTTCCTCTTTTTACTTGCCCCTTTCTCTTCTTTGTCTTCCTCCCTATTCTGACAAGTGGCCAAAATGAATTTAGTTTTCTGAGTGGAGAACAGTGCCAGTGATGTTGTTTTTTGTTTTGTTTTGTTTTGTTTTTTTCTTTTTAAAATTTTTAAAATTTATTTTTTTTAAGAGATGGGATCTCACTTTGTTTCCCAGGCTGGAATGTGGTGGCATAATCATAGCTCACTGCTGCCTGGAGTTCCCAGGCTCAAGCCATCCTCTCACCTCAGCCACCCAAGTAGCTGGGACTACAGGGATGT... | ACTGGTCAGTACCACTTTCTCTTCCTCTTTTTACTTGCCCCTTTCTCTTCTTTGTCTTCCTCCCTATTCTGACAAGTGGCCAAAATGAATTTAGTTTTCTGAGTGGAGAACAGTGCCAGTGATGTTGTTTTTTGTTTTGTTTTGTTTTGTTTTTTTCTTTTTAAAATTTTTAAAATTTATTTTTTTTAAGAGATGGGATCTCACTTTGTTTCCCAGGCTGGAATGTGGTGGCATAATCATAGCTCACTGCTGCCTGGAGTTCCCAGGCTCAAGCCATCCTCTCACCTCAGCCACCCAAGTAGCTGGGACTACAGGGATGT... | benign | 226,756 |
Clinical impact (benign or pathogenic) of the variant at chromosome 14, location 101986773, gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1): what disease(s) if pathogenic? | benign | GATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGT... | GATTGAGACTATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGGGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACCGCAAGTGATCCACCCGCCCCGGCCTCCCGAAGT... | benign | 226,808 |
Determine if the mutation at chromosome 14, position 101988691 in gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAA... | TGGCTTGAAAAAGGAAGTGCAGGCCCTGATCGCAGAAGGCATTGCGTTGGTGTGGGAGTCCTACAAACTTGACCCATATGTACAGCGCTTAGCAGAGACTGTCTTCAACTTCCAAGAAAAGGTATGCTCTCATGTAATCCTCAGGTGTCCTGGTAACGAATGAAGCACAGTAATAGCGAGCTCAGTTAAAACACTAGTTCTCCCGAAGAAGGCATGCATGGTTGATGCAGCATACGGCCATGTGAGCTGCAAGGGAGGAGGACCCTTTGTACTCACCGGGCTATTTAATGGTGCTGGGTTTTAGGGAGGCCATTAAGTAA... | benign | 226,816 |
Variant in gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), located at chromosome 14 position 102005252: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TATCATCTACCCTCCAAGGCAGCTTGCATTACATCTCTTCAGTGTTTATCTCTGGCAGTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGCACGTGGTGCCATCTCGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGTGATTCTCTTTCCTCAGCCTCCTGAGTAACTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGTCAGACTTGTCTAGAACTTCTGACCTTAGGTGAGCCGCTCACCTAAGTCACCTAA... | TATCATCTACCCTCCAAGGCAGCTTGCATTACATCTCTTCAGTGTTTATCTCTGGCAGTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGCACGTGGTGCCATCTCGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGTGATTCTCTTTCCTCAGCCTCCTGAGTAACTGGGATTACAGGTGCCCACCACCACACCCGGCTAATTTTTATATTTTTAGTAGAGATGGGTTTTCGCCATGTTGGTCAGACTTGTCTAGAACTTCTGACCTTAGGTGAGCCGCTCACCTAAGTCACCTAA... | benign | 226,924 |
Mutation found at chromosome 14 position 102010261, gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GGGTGCCTGGGGCTGCTTTGACGAGTTCAACCGCCTGGAGGAGCGGATGCTCTCGGCTGTGTCCCAGCAGGTGCAGTGCATACAGGAAGCACTGCGTGAACATTCCAACCCCAACTACGACAAGAGTAAGACACCTCTTCTTCAAAAATTACTTAGAGAATGTAGAGGGAAATTCCCTAGTGAACTAATTTTCTACCTCTTGGATTAGAAATAAGCAAGAATTTAGCTCACAGGAGCTCACTGTTACAGGCAGTGTAGTGAGCTGTGGTTAAAGACGGAAGGTAAGAAACCCAGGCCAGGCGTAGTGGCTCACGTGTGTA... | GGGTGCCTGGGGCTGCTTTGACGAGTTCAACCGCCTGGAGGAGCGGATGCTCTCGGCTGTGTCCCAGCAGGTGCAGTGCATACAGGAAGCACTGCGTGAACATTCCAACCCCAACTACGACAAGAGTAAGACACCTCTTCTTCAAAAATTACTTAGAGAATGTAGAGGGAAATTCCCTAGTGAACTAATTTTCTACCTCTTGGATTAGAAATAAGCAAGAATTTAGCTCACAGGAGCTCACTGTTACAGGCAGTGTAGTGAGCTGTGGTTAAAGACGGAAGGTAAGAAACCCAGGCCAGGCGTAGTGGCTCACGTGTGTA... | benign | 226,954 |
Is the genetic mutation found on chromosome 14 at position 102029929, within the gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2O', 'Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_dominant_13'] | CCAAGGGACAAAGCCTGCCCCTCATAGCTGTCCTGAAACATGGGCCTCTTTCTCAGGTGTGTGTTGAATTGGTTTGGAGACTGGTCCACCGAAGCACTGTATCAGGTTGGCAAAGAATTCACAAGTAAGATGGATCTGGAGAAGCCAAATTACATCGTGCCTGATTACATGCCAGTTGTGTATGATAAGCTGCCGCAGCCACCATCCCATCGGGAAGCCATTGTGAACAGCTGTGTGTTTGTTCATCAGACTCTTCACCAGGTGGGTTCAGTTTTGAGATCAACAGATAAACCACAAAACTAACCATCATGCTAATATAA... | CCAAGGGACAAAGCCTGCCCCTCATAGCTGTCCTGAAACATGGGCCTCTTTCTCAGGTGTGTGTTGAATTGGTTTGGAGACTGGTCCACCGAAGCACTGTATCAGGTTGGCAAAGAATTCACAAGTAAGATGGATCTGGAGAAGCCAAATTACATCGTGCCTGATTACATGCCAGTTGTGTATGATAAGCTGCCGCAGCCACCATCCCATCGGGAAGCCATTGTGAACAGCTGTGTGTTTGTTCATCAGACTCTTCACCAGGTGGGTTCAGTTTTGAGATCAACAGATAAACCACAAAACTAACCATCATGCTAATATAA... | pathogenic | 227,090 |
Variant at chromosome position 102049600, chromosome 14, gene DYNC1H1 (dynein cytoplasmic 1 heavy chain 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CACACACACACACATATATATATACATACACATACGTATATATATATACACATATATGTATATATACACGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATGTACACACGGCTGAGCACCTTCCAGATTTTGCTGCAGTTCCCAGTGTGGACTCACTCACCATGTGGCCTTTACGTTCAAGTCCCTTTTCCCTCTGTGATTTCTTGCCCGTCCCCTCCCTCCTTCCTGCTGCGACTGTGGGACTGTGGCCCAGGTGTGGACATGATCAGTAAAATGCTGAAGATGCAGATGTTGGAGGATGAGGACGA... | CACACACACACACATATATATATACATACACATACGTATATATATATACACATATATGTATATATACACGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATGTACACACGGCTGAGCACCTTCCAGATTTTGCTGCAGTTCCCAGTGTGGACTCACTCACCATGTGGCCTTTACGTTCAAGTCCCTTTTCCCTCTGTGATTTCTTGCCCGTCCCCTCCCTCCTTCCTGCTGCGACTGTGGGACTGTGGCCCAGGTGTGGACATGATCAGTAAAATGCTGAAGATGCAGATGTTGGAGGATGAGGACGA... | benign | 227,287 |
A genetic variant on chromosome 14, position 102376751, affects the gene TECPR2 (tectonin beta-propeller repeat containing 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_spastic_paraplegia_49'] | TATTTTTTGTTGAGGCGGGAGTCTTGCTATGTTGCCCAGGCTGGTTGTGAACTCCTGGTCTCAAGCAGTTCTCCCACCTTGGCCTCCCAAAGCACTAGGATTACAGGCATAAGCCACTGTTCCTGGGCCAAATTTTCTGTTTCATCATTCATTCATTTATGCAACAAATACTTGCTGAATGCCTCTGATGTGCCTAGCCCTTTTCTCCCTGCGGGGGGAAGAGGGGTGAGTGAGGCAGATATGGGCTCTGCTGTTATGGGCCTTACAGACTAGTGTGTGTGTCAGAGTGGCAGGCAGGCAGATAACCAGTCAGAGAAAAG... | TATTTTTTGTTGAGGCGGGAGTCTTGCTATGTTGCCCAGGCTGGTTGTGAACTCCTGGTCTCAAGCAGTTCTCCCACCTTGGCCTCCCAAAGCACTAGGATTACAGGCATAAGCCACTGTTCCTGGGCCAAATTTTCTGTTTCATCATTCATTCATTTATGCAACAAATACTTGCTGAATGCCTCTGATGTGCCTAGCCCTTTTCTCCCTGCGGGGGGAAGAGGGGTGAGTGAGGCAGATATGGGCTCTGCTGTTATGGGCCTTACAGACTAGTGTGTGTGTCAGAGTGGCAGGCAGGCAGATAACCAGTCAGAGAAAAG... | pathogenic | 227,323 |
Does the chromosome 14 mutation at position 102407336 within gene TECPR2 (tectonin beta-propeller repeat containing 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_49'] | AACAGAGCGAGGCTCCATCTCAAAAAGAAACAAACAGACAAAAAACTCAACAATGAAAAAACCCAATTCAAAAATGGGCAAAGGACTTGAATAGATGTTTCCCCAGAGAAGGTAAACAAATGACCAATAAGCATATGAAAAATGACCATCACTAATTATTAGGGCATGCATGTCAAAACTATACCCCACACCCATTAGGATGGCTACTGTCAAAAAAAAGAAAAAAAGGAAATAACAAGGGTTGGTAAGGATGTGAGAAATGGGAACCCTGGTGCATTGTTCACAGGAATGAGATGATGCAGCCAATACTAGAAAACAGT... | AACAGAGCGAGGCTCCATCTCAAAAAGAAACAAACAGACAAAAAACTCAACAATGAAAAAACCCAATTCAAAAATGGGCAAAGGACTTGAATAGATGTTTCCCCAGAGAAGGTAAACAAATGACCAATAAGCATATGAAAAATGACCATCACTAATTATTAGGGCATGCATGTCAAAACTATACCCCACACCCATTAGGATGGCTACTGTCAAAAAAAAGAAAAAAAGGAAATAACAAGGGTTGGTAAGGATGTGAGAAATGGGAACCCTGGTGCATTGTTCACAGGAATGAGATGATGCAGCCAATACTAGAAAACAGT... | pathogenic | 227,325 |
Is chromosome 14, position 102425012, gene TECPR2 (tectonin beta-propeller repeat containing 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_spastic_paraplegia_49'] | TAGCGCCACACATTACGTGTTCTGTTTTTAGATAGACAAACAGTCATCATTATGTTACAGGTGCCTACAGTGTTAAGTACAGTCATATGGAGTACAGGTTTGCAGTCCAGGGGCAATAGGCTAGACTAAGCTTGTCCAACCCACGGCCCAACACAAATTTGTAAACTTTCTTAAAATGAGATTTTTTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACACAGT... | TAGCGCCACACATTACGTGTTCTGTTTTTAGATAGACAAACAGTCATCATTATGTTACAGGTGCCTACAGTGTTAAGTACAGTCATATGGAGTACAGGTTTGCAGTCCAGGGGCAATAGGCTAGACTAAGCTTGTCCAACCCACGGCCCAACACAAATTTGTAAACTTTCTTAAAATGAGATTTTTTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACACAGT... | pathogenic | 227,331 |
Does the variant on chromosome 14 at location 102425110 affecting gene TECPR2 (tectonin beta-propeller repeat containing 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_spastic_paraplegia_49'] | TTTGCAGTCCAGGGGCAATAGGCTAGACTAAGCTTGTCCAACCCACGGCCCAACACAAATTTGTAAACTTTCTTAAAATGAGATTTTTTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACACAGTTAGCTGGGCATGGCGGTGCACACCTATAATCCCAGCTACATGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGGAGAGGTTCCATTGCATTG... | TTTGCAGTCCAGGGGCAATAGGCTAGACTAAGCTTGTCCAACCCACGGCCCAACACAAATTTGTAAACTTTCTTAAAATGAGATTTTTTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACACAGTTAGCTGGGCATGGCGGTGCACACCTATAATCCCAGCTACATGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGGAGAGGTTCCATTGCATTG... | pathogenic | 227,334 |
Variant in TECPR2 (tectonin beta-propeller repeat containing 2), chromosome 14, position 102428323—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_spastic_paraplegia_49'] | AATCATGGTAGGAAATAATTTCTGCTTAAACCAAGATGATAACAGATTATCATCAGAGACAGATTTAGAAACTTTAAACAAAGCTGTTTAGTTTCAGTTTCTCCTTGTCTTAAGAGCAGAGCTTTTGCTCTTTTTAAAATAAACTCCCTGCCTTACCCTCCCGACTCCTCACCCCCAGACTCTAGACCAGGCCCTGTCCTGTTCACGTTCTTCCATTCTGAGCTCAGCGGGCCTCTGACAGGCACCCCTTTCTTTTATAAGCAGAGCCTCACTGTAGAAAATAAACAGTTTTCAGCCAGGCGCAGTGGCTTACGCCTGTA... | AATCATGGTAGGAAATAATTTCTGCTTAAACCAAGATGATAACAGATTATCATCAGAGACAGATTTAGAAACTTTAAACAAAGCTGTTTAGTTTCAGTTTCTCCTTGTCTTAAGAGCAGAGCTTTTGCTCTTTTTAAAATAAACTCCCTGCCTTACCCTCCCGACTCCTCACCCCCAGACTCTAGACCAGGCCCTGTCCTGTTCACGTTCTTCCATTCTGAGCTCAGCGGGCCTCTGACAGGCACCCCTTTCTTTTATAAGCAGAGCCTCACTGTAGAAAATAAACAGTTTTCAGCCAGGCGCAGTGGCTTACGCCTGTA... | pathogenic | 227,342 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 14, position 102432028, gene TECPR2 (tectonin beta-propeller repeat containing 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia_49'] | TTTTTGAGACAGAGTCTTGCTCTGTATCCCAGGCTAGAGTGCAGTGGTGCAGTCTCTGGTCACTGCAACCTCCACCTCCTGGGTTCAAACGATTCTCCTGCCTTAGCCTCCCGAATAGCTGGGATTACAGGTGTGCACCACCACACCAGGCTAATATTTTGTATTTTAGTAGAAAGGGGGTTTCACCATGCACCATGTTACCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCAGTCCTCCCACCTTAGCCTCCCAAAGTGATGGGATTACAGGCATGAGCCACCGCGCCCAGCCTAAATTTTGTTCAATTTTGATCAATT... | TTTTTGAGACAGAGTCTTGCTCTGTATCCCAGGCTAGAGTGCAGTGGTGCAGTCTCTGGTCACTGCAACCTCCACCTCCTGGGTTCAAACGATTCTCCTGCCTTAGCCTCCCGAATAGCTGGGATTACAGGTGTGCACCACCACACCAGGCTAATATTTTGTATTTTAGTAGAAAGGGGGTTTCACCATGCACCATGTTACCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCAGTCCTCCCACCTTAGCCTCCCAAAGTGATGGGATTACAGGCATGAGCCACCGCGCCCAGCCTAAATTTTGTTCAATTTTGATCAATT... | pathogenic | 227,350 |
Regarding the variant at chromosome 14 and position 102432029, affecting gene TECPR2 (tectonin beta-propeller repeat containing 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_49'] | TTTTGAGACAGAGTCTTGCTCTGTATCCCAGGCTAGAGTGCAGTGGTGCAGTCTCTGGTCACTGCAACCTCCACCTCCTGGGTTCAAACGATTCTCCTGCCTTAGCCTCCCGAATAGCTGGGATTACAGGTGTGCACCACCACACCAGGCTAATATTTTGTATTTTAGTAGAAAGGGGGTTTCACCATGCACCATGTTACCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCAGTCCTCCCACCTTAGCCTCCCAAAGTGATGGGATTACAGGCATGAGCCACCGCGCCCAGCCTAAATTTTGTTCAATTTTGATCAATTT... | TTTTGAGACAGAGTCTTGCTCTGTATCCCAGGCTAGAGTGCAGTGGTGCAGTCTCTGGTCACTGCAACCTCCACCTCCTGGGTTCAAACGATTCTCCTGCCTTAGCCTCCCGAATAGCTGGGATTACAGGTGTGCACCACCACACCAGGCTAATATTTTGTATTTTAGTAGAAAGGGGGTTTCACCATGCACCATGTTACCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCAGTCCTCCCACCTTAGCCTCCCAAAGTGATGGGATTACAGGCATGAGCCACCGCGCCCAGCCTAAATTTTGTTCAATTTTGATCAATTT... | pathogenic | 227,351 |
Evaluate if the mutation on chromosome 14 at position 102432105 in TECPR2 (tectonin beta-propeller repeat containing 2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CCTGGGTTCAAACGATTCTCCTGCCTTAGCCTCCCGAATAGCTGGGATTACAGGTGTGCACCACCACACCAGGCTAATATTTTGTATTTTAGTAGAAAGGGGGTTTCACCATGCACCATGTTACCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCAGTCCTCCCACCTTAGCCTCCCAAAGTGATGGGATTACAGGCATGAGCCACCGCGCCCAGCCTAAATTTTGTTCAATTTTGATCAATTTGAATTTCAATACTTACAAGTAGCTGGTGGCTGCCTATTGGACAGGGAGCTCTAGGCAAGATCTGCCATTAAGTTAT... | CCTGGGTTCAAACGATTCTCCTGCCTTAGCCTCCCGAATAGCTGGGATTACAGGTGTGCACCACCACACCAGGCTAATATTTTGTATTTTAGTAGAAAGGGGGTTTCACCATGCACCATGTTACCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCAGTCCTCCCACCTTAGCCTCCCAAAGTGATGGGATTACAGGCATGAGCCACCGCGCCCAGCCTAAATTTTGTTCAATTTTGATCAATTTGAATTTCAATACTTACAAGTAGCTGGTGGCTGCCTATTGGACAGGGAGCTCTAGGCAAGATCTGCCATTAAGTTAT... | benign | 227,353 |
Regarding the variant at chromosome 14 and position 102434566, affecting gene TECPR2 (tectonin beta-propeller repeat containing 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_spastic_paraplegia_49'] | AGCAATTCTCCTGCCTCAGCCTCCCGAGTATGCATGCCCAGCGAATTTTGTATTTTTAGTAGATACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAAACTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGCGTGAGCCACCGCGCCTGGCATAGTTTTTAGTATTTAAATTAAAATGTCGGGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTC... | AGCAATTCTCCTGCCTCAGCCTCCCGAGTATGCATGCCCAGCGAATTTTGTATTTTTAGTAGATACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCAAACTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGCGTGAGCCACCGCGCCTGGCATAGTTTTTAGTATTTAAATTAAAATGTCGGGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTC... | pathogenic | 227,360 |
Variant at chromosome 14, position 102434753, gene TECPR2 (tectonin beta-propeller repeat containing 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_spastic_paraplegia_49'] | ATTTAAATTAAAATGTCGGGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACATAAATTAGCTGGGCTTGGTGGCATGTGCCTGTAATCTCAGTCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGATGCAGTGAGCCGAGGTCACGCCACTGCACTCCAGCCTCGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGTG... | ATTTAAATTAAAATGTCGGGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACATAAATTAGCTGGGCTTGGTGGCATGTGCCTGTAATCTCAGTCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGATGCAGTGAGCCGAGGTCACGCCACTGCACTCCAGCCTCGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGTG... | pathogenic | 227,366 |
Is the genetic variant on chromosome 14, position 102438121, gene TECPR2, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_spastic_paraplegia_49'] | TTAACTCTTTTACTTCTCTAAACACGAACTATAAAATAGGCACTCTTCTTGTCCCCATTTTACAGAGGAGAAAATGGAAGCACAGAACAGCTAGACAGCTTGCACAAGGTCACATAGCAAATGAAGGGCGGGCCCCAGGACCCCCTCACTCACCCTCTGTGCTGTCATGCCTCAGAAGTGAAACATGCTGCTTACTTGTTTTGAGACAAAACGCCATAAGTCTGGCTTTTTTTTCTTCTTTCTTTCTTTTTTTTTTTTTTTTCTGAGACAGGGTCTCACTCTGTCACCCAGGATGGAGCGCAGTGGCGCAATCATGGCTC... | TTAACTCTTTTACTTCTCTAAACACGAACTATAAAATAGGCACTCTTCTTGTCCCCATTTTACAGAGGAGAAAATGGAAGCACAGAACAGCTAGACAGCTTGCACAAGGTCACATAGCAAATGAAGGGCGGGCCCCAGGACCCCCTCACTCACCCTCTGTGCTGTCATGCCTCAGAAGTGAAACATGCTGCTTACTTGTTTTGAGACAAAACGCCATAAGTCTGGCTTTTTTTTCTTCTTTCTTTCTTTTTTTTTTTTTTTTCTGAGACAGGGTCTCACTCTGTCACCCAGGATGGAGCGCAGTGGCGCAATCATGGCTC... | pathogenic | 227,376 |
Benign or pathogenic: chromosome 14, position 102438214, gene TECPR2 (tectonin beta-propeller repeat containing 2) variant? Disease(s) if pathogenic? | benign | GACAGCTTGCACAAGGTCACATAGCAAATGAAGGGCGGGCCCCAGGACCCCCTCACTCACCCTCTGTGCTGTCATGCCTCAGAAGTGAAACATGCTGCTTACTTGTTTTGAGACAAAACGCCATAAGTCTGGCTTTTTTTTCTTCTTTCTTTCTTTTTTTTTTTTTTTTCTGAGACAGGGTCTCACTCTGTCACCCAGGATGGAGCGCAGTGGCGCAATCATGGCTCATTGCTGCCTCGACCTCCCCAAGCTCAAGTGATCCACCTGCCTCAGCTTCCTGAGTCACTGGGACTACAGGCATGTGCCACCATGCCCAGCTA... | GACAGCTTGCACAAGGTCACATAGCAAATGAAGGGCGGGCCCCAGGACCCCCTCACTCACCCTCTGTGCTGTCATGCCTCAGAAGTGAAACATGCTGCTTACTTGTTTTGAGACAAAACGCCATAAGTCTGGCTTTTTTTTCTTCTTTCTTTCTTTTTTTTTTTTTTTTCTGAGACAGGGTCTCACTCTGTCACCCAGGATGGAGCGCAGTGGCGCAATCATGGCTCATTGCTGCCTCGACCTCCCCAAGCTCAAGTGATCCACCTGCCTCAGCTTCCTGAGTCACTGGGACTACAGGCATGTGCCACCATGCCCAGCTA... | benign | 227,377 |
Clinical impact (benign or pathogenic) of the variant at chromosome 14, location 102443721, gene TECPR2 (tectonin beta-propeller repeat containing 2): what disease(s) if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia_49'] | AGGGCGAGACTCCGTCTCAAAACAAAACAAAACAAAAATAGCAGTTCAGCAAGTCACAGGAAGCTGCCCTCAGGGAAGTTTTTAGCTGATGGAAGGGCACAGTGGGACTTGCTTATTAAAAATAAGCTGTAATGACAGTCAGTGTTTACTGTCAGCAGAATGGGGAAGGATCTTCCACCAGCAATGTGATTTATCAGTATCTGGAAGGACTGTGGGGCAGGAGTTATCGTCAGTTGTCCAGAGGCCACGTTGGATTTATGTAAAGATCAGTCTTCCAGGCGTTTAATGTTGTTGATTCCAGGAGAATGTTGTTGTTGTTG... | AGGGCGAGACTCCGTCTCAAAACAAAACAAAACAAAAATAGCAGTTCAGCAAGTCACAGGAAGCTGCCCTCAGGGAAGTTTTTAGCTGATGGAAGGGCACAGTGGGACTTGCTTATTAAAAATAAGCTGTAATGACAGTCAGTGTTTACTGTCAGCAGAATGGGGAAGGATCTTCCACCAGCAATGTGATTTATCAGTATCTGGAAGGACTGTGGGGCAGGAGTTATCGTCAGTTGTCCAGAGGCCACGTTGGATTTATGTAAAGATCAGTCTTCCAGGCGTTTAATGTTGTTGATTCCAGGAGAATGTTGTTGTTGTTG... | pathogenic | 227,385 |
Mutation found at chromosome 14 position 102452402, gene TECPR2 (tectonin beta-propeller repeat containing 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_49'] | ACCCTGGACTGGGTGTGGCTCTGCCTGGCAGTATTCAGAGGGAGATGAATGTTAGGCTGTGATTGCTCATGTCGCTTTATTTAGGGACACTCTAGAATTATCTGGAGAAAGGGTTTGAAGGCCAGCTGTCGTCCAGAACTAAGATCTGAAGTGGTTTTGTCTATGCTTTCTTTCTTTAACACATTCTTCCTATTTACTCTTTCCAGGCACCTACTGGAATCATGTGGTTCCCCGTGGGACAGCTTCTGCTACAAAATGGGCCTTTGTGTTGGCTTCTGCAGCTCCCACGAAGGAAGGTGGGTCAGTCTTAGCCTCACTGA... | ACCCTGGACTGGGTGTGGCTCTGCCTGGCAGTATTCAGAGGGAGATGAATGTTAGGCTGTGATTGCTCATGTCGCTTTATTTAGGGACACTCTAGAATTATCTGGAGAAAGGGTTTGAAGGCCAGCTGTCGTCCAGAACTAAGATCTGAAGTGGTTTTGTCTATGCTTTCTTTCTTTAACACATTCTTCCTATTTACTCTTTCCAGGCACCTACTGGAATCATGTGGTTCCCCGTGGGACAGCTTCTGCTACAAAATGGGCCTTTGTGTTGGCTTCTGCAGCTCCCACGAAGGAAGGTGGGTCAGTCTTAGCCTCACTGA... | pathogenic | 227,409 |
Clinical significance of chromosome 14, position 102922699, gene AMN (amnion associated transmembrane protein): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Imerslund-Grasbeck_syndrome', 'Imerslund-Grasbeck_syndrome_type_2'] | TCATCCCTCATCCACTGTCTACCATCCACCATTCATCCATCCACCCATTCACCCATCCACCATCCATCCATCCACCATCCACTTATCCACAATCTGCCATCCACCATTCGCCATTCATCCATCCATTCATCCACCACCCATCACCATTCACATCCACCATCGGCCATTCACCATCCACCATCCACCATCCACCTATTCACCATCCACCATTCACTCATTCACCACCCATCCTTCCATCCACCCACCATCCACCACCCACCATCCACCAACCACTATTCATCTTACCATCCACCATCCACCATCTATCATCCACTATCTAC... | TCATCCCTCATCCACTGTCTACCATCCACCATTCATCCATCCACCCATTCACCCATCCACCATCCATCCATCCACCATCCACTTATCCACAATCTGCCATCCACCATTCGCCATTCATCCATCCATTCATCCACCACCCATCACCATTCACATCCACCATCGGCCATTCACCATCCACCATCCACCATCCACCTATTCACCATCCACCATTCACTCATTCACCACCCATCCTTCCATCCACCCACCATCCACCACCCACCATCCACCAACCACTATTCATCTTACCATCCACCATCCACCATCTATCATCCACTATCTAC... | pathogenic | 227,457 |
Mutation found at chromosome 14 position 102923794, gene AMN (amnion associated transmembrane protein): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Imerslund-Grasbeck_syndrome', 'Imerslund-Grasbeck_syndrome_type_2'] | TTTGAGACGGAGTCTCGCTCTGTCGCTCAGGCTGGAGTGCAGCGCACGATCGTGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCGTTCTGCCTCAGCCCCCCAAGTAGCTGGGACTACAGGCGCCTTCTACCATGCCCGGTTAATTTTTTTGTATATTTTTAGTATAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGCGATCCGCCTGCCTCACCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCATTCATTCATTTTTCACTCACCATCCTCATCCATCCA... | TTTGAGACGGAGTCTCGCTCTGTCGCTCAGGCTGGAGTGCAGCGCACGATCGTGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCGTTCTGCCTCAGCCCCCCAAGTAGCTGGGACTACAGGCGCCTTCTACCATGCCCGGTTAATTTTTTTGTATATTTTTAGTATAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGCGATCCGCCTGCCTCACCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCATTCATTCATTTTTCACTCACCATCCTCATCCATCCA... | pathogenic | 227,465 |
Clinical impact (benign or pathogenic) of the variant at chromosome 14, location 102928410, gene AMN: what disease(s) if pathogenic? | pathogenic; ['Imerslund-Grasbeck_syndrome', 'Imerslund-Grasbeck_syndrome_type_2'] | GTCGTGTGCCTGGGTGTTGTGGGTCTCTCTGAGCCTTGTCTTCAAGTCCACAGGCCGCTTTGCCGACCCTACACTATCCACACAGTGGCTCTGCAGGATGGCTTAATATCCATCCCCTTCACTCCTGCTCCAAGGTTCTTTGTGGATCTCATTGTTGCAGATAAATTGTAGAATAGGTTTGCCAGGTAACAACTACCACCACCACCACCAAAAAAACCCTGGATTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCAGTGCAACCTCTGCCTCCCGG... | GTCGTGTGCCTGGGTGTTGTGGGTCTCTCTGAGCCTTGTCTTCAAGTCCACAGGCCGCTTTGCCGACCCTACACTATCCACACAGTGGCTCTGCAGGATGGCTTAATATCCATCCCCTTCACTCCTGCTCCAAGGTTCTTTGTGGATCTCATTGTTGCAGATAAATTGTAGAATAGGTTTGCCAGGTAACAACTACCACCACCACCACCAAAAAAACCCTGGATTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCAGTGCAACCTCTGCCTCCCGG... | pathogenic | 227,472 |
Classify the chromosome 14 variant at position 102930507 affecting gene AMN (amnion associated transmembrane protein) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TCAGGAGCCGGATTCGGCGTCTCAGACGTGGGCTCGCACCTGGACTGTGGCGCGGGTGAGGCGGTCGGGCAGGGGCGGGGCTCTGGAAAGGCATGTTCAGGGGCGGGGACTGGAGGGAAGGCGCGTCGAGGGGGGCGAGGACCGGAGGGAGGGCGCCTCCGGGGGCGTGGTTTAGGGAGTGGCGGAAGTGTCCCGAAGCGGGGCTTGGGAGGTCGTGCTCAGACGCGTGGCGTGGCGTGGCGTGGCGTGGTGTGGCGCGGCGCTTGTTCCGTGGAGCTCAGGGATGTGCTCCGGCTCAGGCGAACCTGCCGTCTTCCGCG... | TCAGGAGCCGGATTCGGCGTCTCAGACGTGGGCTCGCACCTGGACTGTGGCGCGGGTGAGGCGGTCGGGCAGGGGCGGGGCTCTGGAAAGGCATGTTCAGGGGCGGGGACTGGAGGGAAGGCGCGTCGAGGGGGGCGAGGACCGGAGGGAGGGCGCCTCCGGGGGCGTGGTTTAGGGAGTGGCGGAAGTGTCCCGAAGCGGGGCTTGGGAGGTCGTGCTCAGACGCGTGGCGTGGCGTGGCGTGGCGTGGTGTGGCGCGGCGCTTGTTCCGTGGAGCTCAGGGATGTGCTCCGGCTCAGGCGAACCTGCCGTCTTCCGCG... | benign | 227,504 |
Gene mutation in AMN (amnion associated transmembrane protein) at chromosome 14, position 102930656—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AGGGCGCCTCCGGGGGCGTGGTTTAGGGAGTGGCGGAAGTGTCCCGAAGCGGGGCTTGGGAGGTCGTGCTCAGACGCGTGGCGTGGCGTGGCGTGGCGTGGTGTGGCGCGGCGCTTGTTCCGTGGAGCTCAGGGATGTGCTCCGGCTCAGGCGAACCTGCCGTCTTCCGCGACTCTGACCGCTTCTCCTGGCATGACCCGCACCTGTGGCGCTCTGGGGACGAGGCACCTGGCCTCTTCTTCGTGGACGCCGAGCGCGTGCCCTGCCGCCACGACGACGTCTTCTTTCCGCCTAGTGCCTCCTTCCGCGTGGGGCTCGGC... | AGGGCGCCTCCGGGGGCGTGGTTTAGGGAGTGGCGGAAGTGTCCCGAAGCGGGGCTTGGGAGGTCGTGCTCAGACGCGTGGCGTGGCGTGGCGTGGCGTGGTGTGGCGCGGCGCTTGTTCCGTGGAGCTCAGGGATGTGCTCCGGCTCAGGCGAACCTGCCGTCTTCCGCGACTCTGACCGCTTCTCCTGGCATGACCCGCACCTGTGGCGCTCTGGGGACGAGGCACCTGGCCTCTTCTTCGTGGACGCCGAGCGCGTGCCCTGCCGCCACGACGACGTCTTCTTTCCGCCTAGTGCCTCCTTCCGCGTGGGGCTCGGC... | benign | 227,506 |
Clinically, how would you classify the variant at chromosome 14, position 103574078, gene COA8 (cytochrome c oxidase assembly factor 8): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGACTCGTCTCAAAAAAAAAAAAAGAAAAAAAAGTTTTAGATCAGAATGAGAAATAACACAGTTGGCCACTTGAGGGTGCTAGGTGTTTAGTATATTGCTTTGCTATTTGTTACGTGGTAGTACTGGGTCTCAGTCCATCCCCCGCACTGTATGTACATATATGCATATAGTTTTAAAAACTAATATGTAACTGTATATAAGAAATGGTCATTCGTAGAACCACAGATCTTGAGA... | GGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGACTCGTCTCAAAAAAAAAAAAAGAAAAAAAAGTTTTAGATCAGAATGAGAAATAACACAGTTGGCCACTTGAGGGTGCTAGGTGTTTAGTATATTGCTTTGCTATTTGTTACGTGGTAGTACTGGGTCTCAGTCCATCCCCCGCACTGTATGTACATATATGCATATAGTTTTAAAAACTAATATGTAACTGTATATAAGAAATGGTCATTCGTAGAACCACAGATCTTGAGA... | benign | 227,546 |
The mutation impacting INF2 (inverted formin 2) on chromosome 14 at position 104703087: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCT... | CAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCT... | benign | 227,604 |
Variant in gene INF2 (inverted formin 2), located at chromosome 14 position 104707525: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CAGTGTGGGCTGAAGGGGGCCGGCCCTGCCTGCGGAGGGCTGTGCTCATTGACCAGACTGAGATGACTGGCAAGTCCTAGGCCCAGTGAACACTAAGTTTCCTCCTGCTCAGGCCAGAGCCCCGCCCCTCCTGTATCCATGCAGCCCTGTGGACCCACCTCAGGTGTGGTCTTCACTGTAGTCACGCAGCGCCCAGGGGAGGGCCTTCCCTCCCCCAAGGTCACGGCCCGGTTCCATTGTGTGCCACCTCCCCAGGCCTTGGTGCACGTTACTCGATGGGAGTGGGCATACTCGCCCTTCCCCTTCCCCAGGGGCGTGCG... | CAGTGTGGGCTGAAGGGGGCCGGCCCTGCCTGCGGAGGGCTGTGCTCATTGACCAGACTGAGATGACTGGCAAGTCCTAGGCCCAGTGAACACTAAGTTTCCTCCTGCTCAGGCCAGAGCCCCGCCCCTCCTGTATCCATGCAGCCCTGTGGACCCACCTCAGGTGTGGTCTTCACTGTAGTCACGCAGCGCCCAGGGGAGGGCCTTCCCTCCCCCAAGGTCACGGCCCGGTTCCATTGTGTGCCACCTCCCCAGGCCTTGGTGCACGTTACTCGATGGGAGTGGGCATACTCGCCCTTCCCCTTCCCCAGGGGCGTGCG... | benign | 227,662 |
Regarding the variant at chromosome 14 and position 104707547, affecting gene INF2 (inverted formin 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GCCCTGCCTGCGGAGGGCTGTGCTCATTGACCAGACTGAGATGACTGGCAAGTCCTAGGCCCAGTGAACACTAAGTTTCCTCCTGCTCAGGCCAGAGCCCCGCCCCTCCTGTATCCATGCAGCCCTGTGGACCCACCTCAGGTGTGGTCTTCACTGTAGTCACGCAGCGCCCAGGGGAGGGCCTTCCCTCCCCCAAGGTCACGGCCCGGTTCCATTGTGTGCCACCTCCCCAGGCCTTGGTGCACGTTACTCGATGGGAGTGGGCATACTCGCCCTTCCCCTTCCCCAGGGGCGTGCGGGTGCCTGGTGACCCGGGGGCA... | GCCCTGCCTGCGGAGGGCTGTGCTCATTGACCAGACTGAGATGACTGGCAAGTCCTAGGCCCAGTGAACACTAAGTTTCCTCCTGCTCAGGCCAGAGCCCCGCCCCTCCTGTATCCATGCAGCCCTGTGGACCCACCTCAGGTGTGGTCTTCACTGTAGTCACGCAGCGCCCAGGGGAGGGCCTTCCCTCCCCCAAGGTCACGGCCCGGTTCCATTGTGTGCCACCTCCCCAGGCCTTGGTGCACGTTACTCGATGGGAGTGGGCATACTCGCCCTTCCCCTTCCCCAGGGGCGTGCGGGTGCCTGGTGACCCGGGGGCA... | benign | 227,666 |
Mutation at chromosome 14, position 104711014, within INF2 (inverted formin 2): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TAAACCAGTGGGCCCTGACTCTCAGCCCCCGAGTCCTTTCCTGCTGCGGGTGTCCAGCACTGGCCCGAGGGAGCTGGCTGGACCCGACCCATCCTGCATCTCCTGAGCAGGGCCCATGGAGGGTAGCGAGGGTGGGAGTCAGCCTGGGTCCCCTTCACCGCGTGACCGTGGGCAACAACTCGACTGTTCTGTGTCCCCCCTGCCCTGGCCACCCCATGACTACGTGGGGAAACCCTGCCAGGTGGGGTCCCAAAGAGGCTGGGTGGGGGTGACTCATGATTCACTCACCCCTGCCCGGTCCTCTCCCTGCTCCAGCTCCA... | TAAACCAGTGGGCCCTGACTCTCAGCCCCCGAGTCCTTTCCTGCTGCGGGTGTCCAGCACTGGCCCGAGGGAGCTGGCTGGACCCGACCCATCCTGCATCTCCTGAGCAGGGCCCATGGAGGGTAGCGAGGGTGGGAGTCAGCCTGGGTCCCCTTCACCGCGTGACCGTGGGCAACAACTCGACTGTTCTGTGTCCCCCCTGCCCTGGCCACCCCATGACTACGTGGGGAAACCCTGCCAGGTGGGGTCCCAAAGAGGCTGGGTGGGGGTGACTCATGATTCACTCACCCCTGCCCGGTCCTCTCCCTGCTCCAGCTCCA... | benign | 227,735 |
Gene INF2 (inverted formin 2) variant at chromosome 14, position 104711015—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | AAACCAGTGGGCCCTGACTCTCAGCCCCCGAGTCCTTTCCTGCTGCGGGTGTCCAGCACTGGCCCGAGGGAGCTGGCTGGACCCGACCCATCCTGCATCTCCTGAGCAGGGCCCATGGAGGGTAGCGAGGGTGGGAGTCAGCCTGGGTCCCCTTCACCGCGTGACCGTGGGCAACAACTCGACTGTTCTGTGTCCCCCCTGCCCTGGCCACCCCATGACTACGTGGGGAAACCCTGCCAGGTGGGGTCCCAAAGAGGCTGGGTGGGGGTGACTCATGATTCACTCACCCCTGCCCGGTCCTCTCCCTGCTCCAGCTCCAA... | AAACCAGTGGGCCCTGACTCTCAGCCCCCGAGTCCTTTCCTGCTGCGGGTGTCCAGCACTGGCCCGAGGGAGCTGGCTGGACCCGACCCATCCTGCATCTCCTGAGCAGGGCCCATGGAGGGTAGCGAGGGTGGGAGTCAGCCTGGGTCCCCTTCACCGCGTGACCGTGGGCAACAACTCGACTGTTCTGTGTCCCCCCTGCCCTGGCCACCCCATGACTACGTGGGGAAACCCTGCCAGGTGGGGTCCCAAAGAGGCTGGGTGGGGGTGACTCATGATTCACTCACCCCTGCCCGGTCCTCTCCCTGCTCCAGCTCCAA... | benign | 227,736 |
The chromosome 14, position 104714863 genetic variant in gene INF2 (inverted formin 2): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CCCTTGCCCCCAGGCCAGCATCTCGGCCTTCCGGGCACTGGATGAGCTGTTTGAGGCCATCGAGCAGAAGCAACGGGAGCTGGCCGACTACCTGTGTGAGGACGCCCAGCAGCTGTCCCTGGAGGACACGTTCAGCACCATGAAGGCTTTCCGGGACCTTTTCCTCCGCGCCCTGAAGGTGGGGCAGCCCGGCGGGACACAGCCTGTCTGGCTAGAGTGGGGTCCCGAGGCCCCTGGCCTTCCTCCGGCAGGATGGGCAGAGGCACCTTTCGTCGGGCCGACACAGCCATGTGGGCCCTGCGCTGCTGCGGCTCAGGGAG... | CCCTTGCCCCCAGGCCAGCATCTCGGCCTTCCGGGCACTGGATGAGCTGTTTGAGGCCATCGAGCAGAAGCAACGGGAGCTGGCCGACTACCTGTGTGAGGACGCCCAGCAGCTGTCCCTGGAGGACACGTTCAGCACCATGAAGGCTTTCCGGGACCTTTTCCTCCGCGCCCTGAAGGTGGGGCAGCCCGGCGGGACACAGCCTGTCTGGCTAGAGTGGGGTCCCGAGGCCCCTGGCCTTCCTCCGGCAGGATGGGCAGAGGCACCTTTCGTCGGGCCGACACAGCCATGTGGGCCCTGCGCTGCTGCGGCTCAGGGAG... | benign | 227,834 |
Considering the genetic mutation at chromosome 14, position 104718746, impacting INF2 (inverted formin 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TATTTTTTTTCAAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTGAGCTCACAGCAACCTCCACCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCACACGCCACCACGCGCGGCTAATTTTTTGTATTTTTAGCAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCCCACCTTTTTATTTAGAAAATCTTC... | TATTTTTTTTCAAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTGAGCTCACAGCAACCTCCACCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCACACGCCACCACGCGCGGCTAATTTTTTGTATTTTTAGCAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCCCACCTTTTTATTTAGAAAATCTTC... | benign | 227,839 |
Determine if the mutation at chromosome 14, position 104735017 in gene ADSS1 (adenylosuccinate synthase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Myopathy,_distal,_5'] | GCCCCGTCCCGATGGACTGAACCTGTGCGCCCAGGGCTGACTCAGCGTCTGCTGAGCAGCACAGGCTGAGAGCCCTGCCCATCCGCCCAGGCTGCAGAAGTACCCTGACCCTCCACCCCCACCCTGCCTTGGCGCCTGGCAGCATTAGCTCCCACAAGGCCTCCAGGTGCCCTCAGACCACCCTCCCTCCTGCCACCAGGCTTCCTGCATCTCTCCACCTCCCAGGATCCCCACCCAGTTCACCCAGCACCGCCCCGCCCAGAGCCACTGTCCTGAACTGGTTTCCTATAAGGACTGGGCCCAGCCAGGCAGGGCCAGGC... | GCCCCGTCCCGATGGACTGAACCTGTGCGCCCAGGGCTGACTCAGCGTCTGCTGAGCAGCACAGGCTGAGAGCCCTGCCCATCCGCCCAGGCTGCAGAAGTACCCTGACCCTCCACCCCCACCCTGCCTTGGCGCCTGGCAGCATTAGCTCCCACAAGGCCTCCAGGTGCCCTCAGACCACCCTCCCTCCTGCCACCAGGCTTCCTGCATCTCTCCACCTCCCAGGATCCCCACCCAGTTCACCCAGCACCGCCCCGCCCAGAGCCACTGTCCTGAACTGGTTTCCTATAAGGACTGGGCCCAGCCAGGCAGGGCCAGGC... | pathogenic | 227,854 |
Considering the genetic mutation at chromosome 14, position 104741184, impacting ADSS1 (adenylosuccinate synthase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Myopathy,_distal,_5'] | AGTCTCAGCTGGGGAGGAGACAACGAGGGGCGGGTCTGCCGCTTGCTGCGCAACAGAGGTGGCCCTGTCAGCCTCCTCCCTGCATGCCTTACCTGGATGGGAGCCGGGCGAGCTAGCCCAGCTCTGGCCCCTCACGTGTGAGCTGCAGCGCACCTGTGAACACTGACCCACCTGTGTGCCGTGTCCCCGCAGGCCTGAAGGACTGGGAGAAGAGGCTCATCATCTCTGACAGAGCCCACCTTGGTACGTTTCCCACTGGAGTACAGGGAACAGCCCCTCCTGCCCCCACCATTGCCAGCCGGCCCTGCTCCTACATGGCC... | AGTCTCAGCTGGGGAGGAGACAACGAGGGGCGGGTCTGCCGCTTGCTGCGCAACAGAGGTGGCCCTGTCAGCCTCCTCCCTGCATGCCTTACCTGGATGGGAGCCGGGCGAGCTAGCCCAGCTCTGGCCCCTCACGTGTGAGCTGCAGCGCACCTGTGAACACTGACCCACCTGTGTGCCGTGTCCCCGCAGGCCTGAAGGACTGGGAGAAGAGGCTCATCATCTCTGACAGAGCCCACCTTGGTACGTTTCCCACTGGAGTACAGGGAACAGCCCCTCCTGCCCCCACCATTGCCAGCCGGCCCTGCTCCTACATGGCC... | pathogenic | 227,861 |
Chromosome 14, position 104741184, gene ADSS1 (adenylosuccinate synthase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Arthrogryposis_multiplex_congenita', 'Fetal_akinesia_deformation_sequence_1', 'Myopathy,_distal,_5'] | AGTCTCAGCTGGGGAGGAGACAACGAGGGGCGGGTCTGCCGCTTGCTGCGCAACAGAGGTGGCCCTGTCAGCCTCCTCCCTGCATGCCTTACCTGGATGGGAGCCGGGCGAGCTAGCCCAGCTCTGGCCCCTCACGTGTGAGCTGCAGCGCACCTGTGAACACTGACCCACCTGTGTGCCGTGTCCCCGCAGGCCTGAAGGACTGGGAGAAGAGGCTCATCATCTCTGACAGAGCCCACCTTGGTACGTTTCCCACTGGAGTACAGGGAACAGCCCCTCCTGCCCCCACCATTGCCAGCCGGCCCTGCTCCTACATGGCC... | AGTCTCAGCTGGGGAGGAGACAACGAGGGGCGGGTCTGCCGCTTGCTGCGCAACAGAGGTGGCCCTGTCAGCCTCCTCCCTGCATGCCTTACCTGGATGGGAGCCGGGCGAGCTAGCCCAGCTCTGGCCCCTCACGTGTGAGCTGCAGCGCACCTGTGAACACTGACCCACCTGTGTGCCGTGTCCCCGCAGGCCTGAAGGACTGGGAGAAGAGGCTCATCATCTCTGACAGAGCCCACCTTGGTACGTTTCCCACTGGAGTACAGGGAACAGCCCCTCCTGCCCCCACCATTGCCAGCCGGCCCTGCTCCTACATGGCC... | pathogenic | 227,862 |
Variant at chromosome position 104741195, chromosome 14, gene ADSS1 (adenylosuccinate synthase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Myopathy,_distal,_5'] | GGGAGGAGACAACGAGGGGCGGGTCTGCCGCTTGCTGCGCAACAGAGGTGGCCCTGTCAGCCTCCTCCCTGCATGCCTTACCTGGATGGGAGCCGGGCGAGCTAGCCCAGCTCTGGCCCCTCACGTGTGAGCTGCAGCGCACCTGTGAACACTGACCCACCTGTGTGCCGTGTCCCCGCAGGCCTGAAGGACTGGGAGAAGAGGCTCATCATCTCTGACAGAGCCCACCTTGGTACGTTTCCCACTGGAGTACAGGGAACAGCCCCTCCTGCCCCCACCATTGCCAGCCGGCCCTGCTCCTACATGGCCACCGAGATCAG... | GGGAGGAGACAACGAGGGGCGGGTCTGCCGCTTGCTGCGCAACAGAGGTGGCCCTGTCAGCCTCCTCCCTGCATGCCTTACCTGGATGGGAGCCGGGCGAGCTAGCCCAGCTCTGGCCCCTCACGTGTGAGCTGCAGCGCACCTGTGAACACTGACCCACCTGTGTGCCGTGTCCCCGCAGGCCTGAAGGACTGGGAGAAGAGGCTCATCATCTCTGACAGAGCCCACCTTGGTACGTTTCCCACTGGAGTACAGGGAACAGCCCCTCCTGCCCCCACCATTGCCAGCCGGCCCTGCTCCTACATGGCCACCGAGATCAG... | pathogenic | 227,863 |
Clinical classification of chromosome 14, position 104741972, gene ADSS1 (adenylosuccinate synthase 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Myopathy,_distal,_5'] | CACTCAAAGCCCCTGGAGAATGGCACCGTCAAAATTCCACAGCGCATCACCCAACCCCCGGACGAGCCAGCCCGTCTCTCTCTGGGGTTGCACACTGTCCTTGCCGGCTGCCACTGCCACGCGGCTCCCCCCAGGAGTGCATAAGCCCTACCGTCACCTGTCACACCCACCACCTTTCCTGACTCCACACGGCCCCAGGGAAGACACGAGGAACACTAAAGCAGTTTAGTAGAACCTCAGATGTGCCAAGGACACAGGAGTGAAGCAGATGAGTGTCCTGCCTCAGAGAGGTGATGGTCACACACTTACCCACTCACACT... | CACTCAAAGCCCCTGGAGAATGGCACCGTCAAAATTCCACAGCGCATCACCCAACCCCCGGACGAGCCAGCCCGTCTCTCTCTGGGGTTGCACACTGTCCTTGCCGGCTGCCACTGCCACGCGGCTCCCCCCAGGAGTGCATAAGCCCTACCGTCACCTGTCACACCCACCACCTTTCCTGACTCCACACGGCCCCAGGGAAGACACGAGGAACACTAAAGCAGTTTAGTAGAACCTCAGATGTGCCAAGGACACAGGAGTGAAGCAGATGAGTGTCCTGCCTCAGAGAGGTGATGGTCACACACTTACCCACTCACACT... | pathogenic | 227,868 |
A genetic variant on chromosome 15, position 22786671, affects the gene NIPA1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AGTAGCTGGGACTACAGGCGCCCTCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCATCGTGTTAGCTAGGATGGTCTCGATCTCTTGACCTCCTGATCCATCCACCTGACCTCCGGATCCGTCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCTCCCCGGCCCTATTTTATATTTCTTCACAAAATAATAATGCTGTATGCAAAGCTGCCAAAAGGTTTATACTTTTCGTTTGTTTTTGAGACAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATAACAG... | AGTAGCTGGGACTACAGGCGCCCTCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCATCGTGTTAGCTAGGATGGTCTCGATCTCTTGACCTCCTGATCCATCCACCTGACCTCCGGATCCGTCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCTCCCCGGCCCTATTTTATATTTCTTCACAAAATAATAATGCTGTATGCAAAGCTGCCAAAAGGTTTATACTTTTCGTTTGTTTTTGAGACAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATAACAG... | benign | 228,234 |
The mutation impacting NIPA1 on chromosome 15 at position 22786674: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGCTGGGACTACAGGCGCCCTCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCATCGTGTTAGCTAGGATGGTCTCGATCTCTTGACCTCCTGATCCATCCACCTGACCTCCGGATCCGTCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCTCCCCGGCCCTATTTTATATTTCTTCACAAAATAATAATGCTGTATGCAAAGCTGCCAAAAGGTTTATACTTTTCGTTTGTTTTTGAGACAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATAACAGCTC... | AGCTGGGACTACAGGCGCCCTCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCATCGTGTTAGCTAGGATGGTCTCGATCTCTTGACCTCCTGATCCATCCACCTGACCTCCGGATCCGTCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCTCCCCGGCCCTATTTTATATTTCTTCACAAAATAATAATGCTGTATGCAAAGCTGCCAAAAGGTTTATACTTTTCGTTTGTTTTTGAGACAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATAACAGCTC... | benign | 228,235 |
Variant at chromosome position 22786677, chromosome 15, gene NIPA1: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TGGGACTACAGGCGCCCTCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCATCGTGTTAGCTAGGATGGTCTCGATCTCTTGACCTCCTGATCCATCCACCTGACCTCCGGATCCGTCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCTCCCCGGCCCTATTTTATATTTCTTCACAAAATAATAATGCTGTATGCAAAGCTGCCAAAAGGTTTATACTTTTCGTTTGTTTTTGAGACAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATAACAGCTCACT... | TGGGACTACAGGCGCCCTCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCATCGTGTTAGCTAGGATGGTCTCGATCTCTTGACCTCCTGATCCATCCACCTGACCTCCGGATCCGTCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCTCCCCGGCCCTATTTTATATTTCTTCACAAAATAATAATGCTGTATGCAAAGCTGCCAAAAGGTTTATACTTTTCGTTTGTTTTTGAGACAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATAACAGCTCACT... | benign | 228,236 |
Classify the chromosome 15 variant at position 22786677 affecting gene NIPA1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TGGGACTACAGGCGCCCTCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCATCGTGTTAGCTAGGATGGTCTCGATCTCTTGACCTCCTGATCCATCCACCTGACCTCCGGATCCGTCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCTCCCCGGCCCTATTTTATATTTCTTCACAAAATAATAATGCTGTATGCAAAGCTGCCAAAAGGTTTATACTTTTCGTTTGTTTTTGAGACAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATAACAGCTCACT... | TGGGACTACAGGCGCCCTCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCATCGTGTTAGCTAGGATGGTCTCGATCTCTTGACCTCCTGATCCATCCACCTGACCTCCGGATCCGTCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCTCCCCGGCCCTATTTTATATTTCTTCACAAAATAATAATGCTGTATGCAAAGCTGCCAAAAGGTTTATACTTTTCGTTTGTTTTTGAGACAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATAACAGCTCACT... | benign | 228,237 |
Clinical significance of chromosome 15, position 22786677, gene NIPA1: benign or pathogenic? Name the disease(s) if pathogenic. | benign | TGGGACTACAGGCGCCCTCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCATCGTGTTAGCTAGGATGGTCTCGATCTCTTGACCTCCTGATCCATCCACCTGACCTCCGGATCCGTCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCTCCCCGGCCCTATTTTATATTTCTTCACAAAATAATAATGCTGTATGCAAAGCTGCCAAAAGGTTTATACTTTTCGTTTGTTTTTGAGACAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATAACAGCTCACT... | TGGGACTACAGGCGCCCTCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCATCGTGTTAGCTAGGATGGTCTCGATCTCTTGACCTCCTGATCCATCCACCTGACCTCCGGATCCGTCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCTCCCCGGCCCTATTTTATATTTCTTCACAAAATAATAATGCTGTATGCAAAGCTGCCAAAAGGTTTATACTTTTCGTTTGTTTTTGAGACAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATAACAGCTCACT... | benign | 228,238 |
Clinically, how would you classify the variant at chromosome 15, position 22786677, gene NIPA1: benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TGGGACTACAGGCGCCCTCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCATCGTGTTAGCTAGGATGGTCTCGATCTCTTGACCTCCTGATCCATCCACCTGACCTCCGGATCCGTCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCTCCCCGGCCCTATTTTATATTTCTTCACAAAATAATAATGCTGTATGCAAAGCTGCCAAAAGGTTTATACTTTTCGTTTGTTTTTGAGACAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATAACAGCTCACT... | TGGGACTACAGGCGCCCTCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCATCGTGTTAGCTAGGATGGTCTCGATCTCTTGACCTCCTGATCCATCCACCTGACCTCCGGATCCGTCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCTCCCCGGCCCTATTTTATATTTCTTCACAAAATAATAATGCTGTATGCAAAGCTGCCAAAAGGTTTATACTTTTCGTTTGTTTTTGAGACAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATAACAGCTCACT... | benign | 228,239 |
Is the genetic variant on chromosome 15, position 23644859, gene MAGEL2 (MAGE family member L2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Schaaf-Yang_syndrome'] | AACACTCAGGCCAGTTCATTCCCTTGTCCCTTTCCTGCCTAGACCAGGTTCATAGCCAAGGGCTGACCGCGGTTGTTCAGCAACTTCAGGCGTTGCCGGCTGCCTTCCCCTACAAGTTAGAATGACCCTTCCCCCCAGGACCTTCCCCTAGAACTCTATGTTGATAGGAATGCACCCTGCCACGCCCTCCCCTAACCCAGCCACTACTGCTGGCAATCTGCAGGGTTTCTAATTAAATGAAGACTGTTTTTTCCTTTTCCCTGTTATAAGCCTGGATATCCTGCAGGGAGCACGTTTCCATCCCGGTAGCAGTGTGTTGA... | AACACTCAGGCCAGTTCATTCCCTTGTCCCTTTCCTGCCTAGACCAGGTTCATAGCCAAGGGCTGACCGCGGTTGTTCAGCAACTTCAGGCGTTGCCGGCTGCCTTCCCCTACAAGTTAGAATGACCCTTCCCCCCAGGACCTTCCCCTAGAACTCTATGTTGATAGGAATGCACCCTGCCACGCCCTCCCCTAACCCAGCCACTACTGCTGGCAATCTGCAGGGTTTCTAATTAAATGAAGACTGTTTTTTCCTTTTCCCTGTTATAAGCCTGGATATCCTGCAGGGAGCACGTTTCCATCCCGGTAGCAGTGTGTTGA... | pathogenic | 228,333 |
Chromosome 15, position 23645131, gene MAGEL2 (MAGE family member L2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TGGATATCCTGCAGGGAGCACGTTTCCATCCCGGTAGCAGTGTGTTGATGAAACCCAAATTTGAACTGCTGGACACCCCGCCACGGGCCACATGATTGACAAATACCCTTTTGGCCAAATTCTCCATGAAGCGGGACCACCTGGTTATTTGTAGTCCTGCAGGCAGATGGCCCTTCTTCTCCACATACCCTTAAGGACATTTCTGCTTCTAATAACAACGTTACCAGCTGGGCACTAACGTGTGTGCTTTAATTAATCTCCTGGAGAAATCTTATGTATAACCACCCACTGAAATCACTGCATCCTTATAAAGATGAATG... | TGGATATCCTGCAGGGAGCACGTTTCCATCCCGGTAGCAGTGTGTTGATGAAACCCAAATTTGAACTGCTGGACACCCCGCCACGGGCCACATGATTGACAAATACCCTTTTGGCCAAATTCTCCATGAAGCGGGACCACCTGGTTATTTGTAGTCCTGCAGGCAGATGGCCCTTCTTCTCCACATACCCTTAAGGACATTTCTGCTTCTAATAACAACGTTACCAGCTGGGCACTAACGTGTGTGCTTTAATTAATCTCCTGGAGAAATCTTATGTATAACCACCCACTGAAATCACTGCATCCTTATAAAGATGAATG... | benign | 228,340 |
Chromosome 15, position 23645746, gene MAGEL2 (MAGE family member L2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Neurodevelopmental_delay', 'Neurodevelopmental_disorder', 'Prader-Willi-like_syndrome', 'Schaaf-Yang_syndrome'] | CATTTCACAAAGCCAGCACAAAGCTGATACCAAAACATAACAATTAAAACACAAAACAGAGAACCACAGATCTCACTTAAAAACACAGATGCCAAAATACAGAACAGAACAGTAGCCGATTGAAATCAACACCACATAAAAAATGTACAAAGCTTTGGCAGATACGAAACCAAGTTGAAAATCCAAACGTACACTCGTGGAACTGGAACACAAACACCAGGAACAAAAATGTCCCCCCACCCTGTCAGTGGCCTCTGGCCAGGGAAACACAGGAGCGAGATCTCTGCTACACCTATTAGCGGGGAGGGGGCCTGCTGGTG... | CATTTCACAAAGCCAGCACAAAGCTGATACCAAAACATAACAATTAAAACACAAAACAGAGAACCACAGATCTCACTTAAAAACACAGATGCCAAAATACAGAACAGAACAGTAGCCGATTGAAATCAACACCACATAAAAAATGTACAAAGCTTTGGCAGATACGAAACCAAGTTGAAAATCCAAACGTACACTCGTGGAACTGGAACACAAACACCAGGAACAAAAATGTCCCCCCACCCTGTCAGTGGCCTCTGGCCAGGGAAACACAGGAGCGAGATCTCTGCTACACCTATTAGCGGGGAGGGGGCCTGCTGGTG... | pathogenic | 228,349 |
Clinical classification of chromosome 15, position 23645746, gene MAGEL2 (MAGE family member L2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Ambiguous_genitalia', 'Generalized_hypotonia', 'Multiple_joint_contractures', 'Schaaf-Yang_syndrome', 'Ventriculomegaly'] | CATTTCACAAAGCCAGCACAAAGCTGATACCAAAACATAACAATTAAAACACAAAACAGAGAACCACAGATCTCACTTAAAAACACAGATGCCAAAATACAGAACAGAACAGTAGCCGATTGAAATCAACACCACATAAAAAATGTACAAAGCTTTGGCAGATACGAAACCAAGTTGAAAATCCAAACGTACACTCGTGGAACTGGAACACAAACACCAGGAACAAAAATGTCCCCCCACCCTGTCAGTGGCCTCTGGCCAGGGAAACACAGGAGCGAGATCTCTGCTACACCTATTAGCGGGGAGGGGGCCTGCTGGTG... | CATTTCACAAAGCCAGCACAAAGCTGATACCAAAACATAACAATTAAAACACAAAACAGAGAACCACAGATCTCACTTAAAAACACAGATGCCAAAATACAGAACAGAACAGTAGCCGATTGAAATCAACACCACATAAAAAATGTACAAAGCTTTGGCAGATACGAAACCAAGTTGAAAATCCAAACGTACACTCGTGGAACTGGAACACAAACACCAGGAACAAAAATGTCCCCCCACCCTGTCAGTGGCCTCTGGCCAGGGAAACACAGGAGCGAGATCTCTGCTACACCTATTAGCGGGGAGGGGGCCTGCTGGTG... | pathogenic | 228,350 |
Variant at chromosome 15, position 23646336, gene MAGEL2 (MAGE family member L2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TTTCCAAAGAGACCGTTTGTCTCCCGGACATCCAACCCTAACTTGAACAGAAAATTAAAGATCAGATCCTCCCTGACACAGTTGCCTTTCATAAAGATGAGGCTCAAGACCACCATCAGAAGGCCAAACTTGGGCCTGTCTAAATAGGATGCCACCAAATTCCCTGTATGGTAGCCCAGCTTGTTGATGATAATATAGGCGTGGTTTTTGGTATCAATTTCTTTCAATTGATAACCAAAGGCACACTCCAGCTTATTGTTGGCACGGTTGATGATATCTAAGCACTCATCTTTATACTCTCGGAGGATGACTTTCACCAT... | TTTCCAAAGAGACCGTTTGTCTCCCGGACATCCAACCCTAACTTGAACAGAAAATTAAAGATCAGATCCTCCCTGACACAGTTGCCTTTCATAAAGATGAGGCTCAAGACCACCATCAGAAGGCCAAACTTGGGCCTGTCTAAATAGGATGCCACCAAATTCCCTGTATGGTAGCCCAGCTTGTTGATGATAATATAGGCGTGGTTTTTGGTATCAATTTCTTTCAATTGATAACCAAAGGCACACTCCAGCTTATTGTTGGCACGGTTGATGATATCTAAGCACTCATCTTTATACTCTCGGAGGATGACTTTCACCAT... | benign | 228,362 |
Is chromosome 15, position 23646375, gene MAGEL2 (MAGE family member L2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AACTTGAACAGAAAATTAAAGATCAGATCCTCCCTGACACAGTTGCCTTTCATAAAGATGAGGCTCAAGACCACCATCAGAAGGCCAAACTTGGGCCTGTCTAAATAGGATGCCACCAAATTCCCTGTATGGTAGCCCAGCTTGTTGATGATAATATAGGCGTGGTTTTTGGTATCAATTTCTTTCAATTGATAACCAAAGGCACACTCCAGCTTATTGTTGGCACGGTTGATGATATCTAAGCACTCATCTTTATACTCTCGGAGGATGACTTTCACCATCTCCGAGCGCTGGACAGGCACCTTGGCTTGGTCCTTGAC... | AACTTGAACAGAAAATTAAAGATCAGATCCTCCCTGACACAGTTGCCTTTCATAAAGATGAGGCTCAAGACCACCATCAGAAGGCCAAACTTGGGCCTGTCTAAATAGGATGCCACCAAATTCCCTGTATGGTAGCCCAGCTTGTTGATGATAATATAGGCGTGGTTTTTGGTATCAATTTCTTTCAATTGATAACCAAAGGCACACTCCAGCTTATTGTTGGCACGGTTGATGATATCTAAGCACTCATCTTTATACTCTCGGAGGATGACTTTCACCATCTCCGAGCGCTGGACAGGCACCTTGGCTTGGTCCTTGAC... | benign | 228,366 |
Determine if the mutation at chromosome 15, position 23647239 in gene MAGEL2 (MAGE family member L2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | ACTGCCTGCGATGCCTTTGAGGCATTCATATTGGGCTGTGGGACCCATGGAACTGCAGGCAGGGCCTCTACACAGGCAAAGGGATCCTGCAGAGCATATGGCAGTGACTTTGGGGTCTCTGAGGCAGCAGAGGGGCCTTTAAAGGCATTCAGAGAGGCAGGCTGAAACTGGGAGGTAGCTGGGAAGACACTTGAGGAGGGAGCAAAGGTCTCCGGTGTGGCAGGCAGGTTTTTCCAGGCAGCTGGCAGGTGTGCTCGCGCAGCTGACACTGCCTTGGGAGCACAGAAGGTGGCAGCAAAGATCATGCGGTCTTTTGAAGG... | ACTGCCTGCGATGCCTTTGAGGCATTCATATTGGGCTGTGGGACCCATGGAACTGCAGGCAGGGCCTCTACACAGGCAAAGGGATCCTGCAGAGCATATGGCAGTGACTTTGGGGTCTCTGAGGCAGCAGAGGGGCCTTTAAAGGCATTCAGAGAGGCAGGCTGAAACTGGGAGGTAGCTGGGAAGACACTTGAGGAGGGAGCAAAGGTCTCCGGTGTGGCAGGCAGGTTTTTCCAGGCAGCTGGCAGGTGTGCTCGCGCAGCTGACACTGCCTTGGGAGCACAGAAGGTGGCAGCAAAGATCATGCGGTCTTTTGAAGG... | benign | 228,388 |
Does the genetic variant at chromosome 15, position 23647518, impacting gene MAGEL2 (MAGE family member L2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Developmental_disorder', 'Schaaf-Yang_syndrome'] | GCACAGAAGGTGGCAGCAAAGATCATGCGGTCTTTTGAAGGGGCCCTGCGCTCCTTCGAGGAGGTCCTGCGCTCTTTAGAGGAGCCCCTGCGGTCTATAGAAGAGGCCCTGCATTCTCCTGATGGAGTCATCAATGATTTAGCGGAGCCCAGGGGAAAATTTGCCGCTGCTACCGGGGGTCCGGGCTGGGCCTGCAAGACTGCAGGCGGTGCCTGCCAGGAAGGCTGGAGCGGCAGTGTGGGCACCTCCGCTTGCGGACCCGATGCCTGGGCCTGCTGGGGGGGTAGCTGGATTTGCACGGCTTTTTGGGAGGGCGGGGC... | GCACAGAAGGTGGCAGCAAAGATCATGCGGTCTTTTGAAGGGGCCCTGCGCTCCTTCGAGGAGGTCCTGCGCTCTTTAGAGGAGCCCCTGCGGTCTATAGAAGAGGCCCTGCATTCTCCTGATGGAGTCATCAATGATTTAGCGGAGCCCAGGGGAAAATTTGCCGCTGCTACCGGGGGTCCGGGCTGGGCCTGCAAGACTGCAGGCGGTGCCTGCCAGGAAGGCTGGAGCGGCAGTGTGGGCACCTCCGCTTGCGGACCCGATGCCTGGGCCTGCTGGGGGGGTAGCTGGATTTGCACGGCTTTTTGGGAGGGCGGGGC... | pathogenic | 228,393 |
Gene MAGEL2 (MAGE family member L2) variant at chromosome position 23647551 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | TTTGAAGGGGCCCTGCGCTCCTTCGAGGAGGTCCTGCGCTCTTTAGAGGAGCCCCTGCGGTCTATAGAAGAGGCCCTGCATTCTCCTGATGGAGTCATCAATGATTTAGCGGAGCCCAGGGGAAAATTTGCCGCTGCTACCGGGGGTCCGGGCTGGGCCTGCAAGACTGCAGGCGGTGCCTGCCAGGAAGGCTGGAGCGGCAGTGTGGGCACCTCCGCTTGCGGACCCGATGCCTGGGCCTGCTGGGGGGGTAGCTGGATTTGCACGGCTTTTTGGGAGGGCGGGGCTCCCTGAAAGGGCTGCTCCAGCTGGACCAAGGG... | TTTGAAGGGGCCCTGCGCTCCTTCGAGGAGGTCCTGCGCTCTTTAGAGGAGCCCCTGCGGTCTATAGAAGAGGCCCTGCATTCTCCTGATGGAGTCATCAATGATTTAGCGGAGCCCAGGGGAAAATTTGCCGCTGCTACCGGGGGTCCGGGCTGGGCCTGCAAGACTGCAGGCGGTGCCTGCCAGGAAGGCTGGAGCGGCAGTGTGGGCACCTCCGCTTGCGGACCCGATGCCTGGGCCTGCTGGGGGGGTAGCTGGATTTGCACGGCTTTTTGGGAGGGCGGGGCTCCCTGAAAGGGCTGCTCCAGCTGGACCAAGGG... | pathogenic | 228,394 |
For chromosome 15, position 25339101, gene UBE3A: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | ACGATTTTTTTTCTCTAAAATTTTAAGGGTAGGTTCATTCTGACTCTGTTAAAAGTCTACTTGATGTGAACAACTCTATATCTGATAACCTATTTCAATTACCACTTTAAAACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTT... | ACGATTTTTTTTCTCTAAAATTTTAAGGGTAGGTTCATTCTGACTCTGTTAAAAGTCTACTTGATGTGAACAACTCTATATCTGATAACCTATTTCAATTACCACTTTAAAACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTT... | benign | 228,427 |
Benign or pathogenic: chromosome 15, position 25339130, gene UBE3A variant? Disease(s) if pathogenic? | pathogenic; ['Angelman_syndrome'] | TAGGTTCATTCTGACTCTGTTAAAAGTCTACTTGATGTGAACAACTCTATATCTGATAACCTATTTCAATTACCACTTTAAAACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTTTCATCAAGGTAGCGTATGTACCCTAACAG... | TAGGTTCATTCTGACTCTGTTAAAAGTCTACTTGATGTGAACAACTCTATATCTGATAACCTATTTCAATTACCACTTTAAAACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTTTCATCAAGGTAGCGTATGTACCCTAACAG... | pathogenic | 228,428 |
Evaluate the clinical significance of the mutation at chromosome 15, position 25339185 in gene UBE3A: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Angelman_syndrome', 'Inborn_genetic_diseases', 'Intellectual_disability'] | ATAACCTATTTCAATTACCACTTTAAAACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTTTCATCAAGGTAGCGTATGTACCCTAACAGTGTTCTAAAGGCTGGCCCAGAAAAACCCCATGTTACCTTATCACAATATGGAAAG... | ATAACCTATTTCAATTACCACTTTAAAACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTTTCATCAAGGTAGCGTATGTACCCTAACAGTGTTCTAAAGGCTGGCCCAGAAAAACCCCATGTTACCTTATCACAATATGGAAAG... | pathogenic | 228,431 |
Located at chromosome 15 position 25339187, the variant affecting gene UBE3A—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Angelman_syndrome'] | AACCTATTTCAATTACCACTTTAAAACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTTTCATCAAGGTAGCGTATGTACCCTAACAGTGTTCTAAAGGCTGGCCCAGAAAAACCCCATGTTACCTTATCACAATATGGAAAGCA... | AACCTATTTCAATTACCACTTTAAAACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTTTCATCAAGGTAGCGTATGTACCCTAACAGTGTTCTAAAGGCTGGCCCAGAAAAACCCCATGTTACCTTATCACAATATGGAAAGCA... | pathogenic | 228,432 |
Classify the chromosome 15 variant at position 25339187 affecting gene UBE3A as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Angelman_syndrome'] | AACCTATTTCAATTACCACTTTAAAACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTTTCATCAAGGTAGCGTATGTACCCTAACAGTGTTCTAAAGGCTGGCCCAGAAAAACCCCATGTTACCTTATCACAATATGGAAAGCA... | AACCTATTTCAATTACCACTTTAAAACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTTTCATCAAGGTAGCGTATGTACCCTAACAGTGTTCTAAAGGCTGGCCCAGAAAAACCCCATGTTACCTTATCACAATATGGAAAGCA... | pathogenic | 228,433 |
Determine whether the variant at chromosome 15, position 25339188, in gene UBE3A is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Angelman_syndrome'] | ACCTATTTCAATTACCACTTTAAAACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTTTCATCAAGGTAGCGTATGTACCCTAACAGTGTTCTAAAGGCTGGCCCAGAAAAACCCCATGTTACCTTATCACAATATGGAAAGCAT... | ACCTATTTCAATTACCACTTTAAAACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTTTCATCAAGGTAGCGTATGTACCCTAACAGTGTTCTAAAGGCTGGCCCAGAAAAACCCCATGTTACCTTATCACAATATGGAAAGCAT... | pathogenic | 228,434 |
Does the variant impacting UBE3A on chromosome 15, position 25339189, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Angelman_syndrome', 'Inborn_genetic_diseases'] | CCTATTTCAATTACCACTTTAAAACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTTTCATCAAGGTAGCGTATGTACCCTAACAGTGTTCTAAAGGCTGGCCCAGAAAAACCCCATGTTACCTTATCACAATATGGAAAGCATT... | CCTATTTCAATTACCACTTTAAAACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTTTCATCAAGGTAGCGTATGTACCCTAACAGTGTTCTAAAGGCTGGCCCAGAAAAACCCCATGTTACCTTATCACAATATGGAAAGCATT... | pathogenic | 228,435 |
Clinical impact (benign or pathogenic) of the variant at chromosome 15, location 25339189, gene UBE3A: what disease(s) if pathogenic? | pathogenic; ['Angelman_syndrome'] | CCTATTTCAATTACCACTTTAAAACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTTTCATCAAGGTAGCGTATGTACCCTAACAGTGTTCTAAAGGCTGGCCCAGAAAAACCCCATGTTACCTTATCACAATATGGAAAGCATT... | CCTATTTCAATTACCACTTTAAAACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTTTCATCAAGGTAGCGTATGTACCCTAACAGTGTTCTAAAGGCTGGCCCAGAAAAACCCCATGTTACCTTATCACAATATGGAAAGCATT... | pathogenic | 228,436 |
Is the genetic variant on chromosome 15, position 25340149, gene UBE3A, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Angelman_syndrome'] | CTGATTCAACAAGATGATGGCAACACGAAGGGGAGACTTTGGATTGTCTATTTAAAATCTAGGTAATAAGTAAGTAATTAATAAAAACTCTATCTTAAGTGCACTTTCACATGCTTTTTGTTTATAATAAACAAACAACAAACTTCCTAACTTTGTTGCAATAGGCTTGACTACCATTTCATTTGGCCAAATGCACTTTCCCCAGTAAACTTAAAACAACAACGAGAACAACAAGAACAAAAATCCCTGTCCTTTCATATACTAAGAAAGAGGATTGGCTACTGAAACAGTTCATTGCAAGACACATGAAGACGACATAC... | CTGATTCAACAAGATGATGGCAACACGAAGGGGAGACTTTGGATTGTCTATTTAAAATCTAGGTAATAAGTAAGTAATTAATAAAAACTCTATCTTAAGTGCACTTTCACATGCTTTTTGTTTATAATAAACAAACAACAAACTTCCTAACTTTGTTGCAATAGGCTTGACTACCATTTCATTTGGCCAAATGCACTTTCCCCAGTAAACTTAAAACAACAACGAGAACAACAAGAACAAAAATCCCTGTCCTTTCATATACTAAGAAAGAGGATTGGCTACTGAAACAGTTCATTGCAAGACACATGAAGACGACATAC... | pathogenic | 228,441 |
Regarding the variant found on chromosome 15 at position 25356695 in gene UBE3A: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Angelman_syndrome'] | TATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTT... | TATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTT... | pathogenic | 228,460 |
Benign or pathogenic: chromosome 15, position 25356777, gene UBE3A variant? Disease(s) if pathogenic? | pathogenic; ['Angelman_syndrome', 'Inborn_genetic_diseases', 'UBE3A-related_disorder'] | AAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACA... | AAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACA... | pathogenic | 228,462 |
Variant in UBE3A, chromosome 15, position 25356812—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Angelman_syndrome'] | TAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTC... | TAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTC... | pathogenic | 228,464 |
Considering the variant on chromosome 15, location 25356842, involving gene UBE3A, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Angelman_syndrome'] | TATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACA... | TATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACA... | pathogenic | 228,466 |
A mutation at chromosome position 25356867 on chromosome 15 in gene UBE3A: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Angelman_syndrome', 'Inborn_genetic_diseases'] | CTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATC... | CTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATC... | pathogenic | 228,467 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 15, position 25360544, gene UBE3A. What disease(s) is it linked to if pathogenic? | benign | TAAATCATTTTACTACATGTTTAGTTGCTACTGTGAAACAATGAAAACATCTTAAGAATTAAGTCTGAAAAAAATCTGTAATTTCCAATAGAAAAGTAGAGCTTAGAAATCAGAAATCAAATTATACAGTATATAAGTATTTTAACCTGTTTATAAGAATTTTAAAATCTTTGAAAATGTCATTGTCACTTTAAGTTTAAAAATAAGGAGCTTTAACATGTTTCCTTGATCACTAGGAGTATGAATTAAGCTTAGGACATTTTCTGAATGCAAAATGGTTTGAAAATTAAACAATTCATATTTGAGTTTCATGGTTTCTA... | TAAATCATTTTACTACATGTTTAGTTGCTACTGTGAAACAATGAAAACATCTTAAGAATTAAGTCTGAAAAAAATCTGTAATTTCCAATAGAAAAGTAGAGCTTAGAAATCAGAAATCAAATTATACAGTATATAAGTATTTTAACCTGTTTATAAGAATTTTAAAATCTTTGAAAATGTCATTGTCACTTTAAGTTTAAAAATAAGGAGCTTTAACATGTTTCCTTGATCACTAGGAGTATGAATTAAGCTTAGGACATTTTCTGAATGCAAAATGGTTTGAAAATTAAACAATTCATATTTGAGTTTCATGGTTTCTA... | benign | 228,471 |
Considering the variant on chromosome 15, location 25370697, involving gene UBE3A, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Angelman_syndrome', 'Epileptic_encephalopathy'] | GCAGAACTTGCTAAAAACAAGTTACCATAATTAAAGAGCTCACAGTTAATTTTACACTAACACCTAAGGCTTTAAAAGCAGTTGTTTCCTTAAAATTCTAGAATAGAATTTAAAATATAGAATAAAGTATATACCAAGTACTTAAACTTTTGTTTTTAGTCTTGCTTTACTAGAGAAAAAAATGGGGGACTGAGGAAAATAAGACTGAGTAGACTTCTGAGCGAAAGACAGATAAGGAAGGTAGACAATTTTTTGAACCCTGGAATGATTCTTACAGTGTAATTTCATTGCCTTTTAAAGGCTAGACATAGCTTTTGATG... | GCAGAACTTGCTAAAAACAAGTTACCATAATTAAAGAGCTCACAGTTAATTTTACACTAACACCTAAGGCTTTAAAAGCAGTTGTTTCCTTAAAATTCTAGAATAGAATTTAAAATATAGAATAAAGTATATACCAAGTACTTAAACTTTTGTTTTTAGTCTTGCTTTACTAGAGAAAAAAATGGGGGACTGAGGAAAATAAGACTGAGTAGACTTCTGAGCGAAAGACAGATAAGGAAGGTAGACAATTTTTTGAACCCTGGAATGATTCTTACAGTGTAATTTCATTGCCTTTTAAAGGCTAGACATAGCTTTTGATG... | pathogenic | 228,478 |
Clinical significance of chromosome 15, position 25370751, gene UBE3A: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Angelman_syndrome', 'UBE3A-related_disorder'] | CACTAACACCTAAGGCTTTAAAAGCAGTTGTTTCCTTAAAATTCTAGAATAGAATTTAAAATATAGAATAAAGTATATACCAAGTACTTAAACTTTTGTTTTTAGTCTTGCTTTACTAGAGAAAAAAATGGGGGACTGAGGAAAATAAGACTGAGTAGACTTCTGAGCGAAAGACAGATAAGGAAGGTAGACAATTTTTTGAACCCTGGAATGATTCTTACAGTGTAATTTCATTGCCTTTTAAAGGCTAGACATAGCTTTTGATGAAGACAGCTGAAGGGATCTCACCTCAAGAAGCCAAACATAAAGTATGTAGCTTT... | CACTAACACCTAAGGCTTTAAAAGCAGTTGTTTCCTTAAAATTCTAGAATAGAATTTAAAATATAGAATAAAGTATATACCAAGTACTTAAACTTTTGTTTTTAGTCTTGCTTTACTAGAGAAAAAAATGGGGGACTGAGGAAAATAAGACTGAGTAGACTTCTGAGCGAAAGACAGATAAGGAAGGTAGACAATTTTTTGAACCCTGGAATGATTCTTACAGTGTAATTTCATTGCCTTTTAAAGGCTAGACATAGCTTTTGATGAAGACAGCTGAAGGGATCTCACCTCAAGAAGCCAAACATAAAGTATGTAGCTTT... | pathogenic | 228,479 |
For chromosome 15, position 25370765, gene UBE3A: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Angelman_syndrome'] | GCTTTAAAAGCAGTTGTTTCCTTAAAATTCTAGAATAGAATTTAAAATATAGAATAAAGTATATACCAAGTACTTAAACTTTTGTTTTTAGTCTTGCTTTACTAGAGAAAAAAATGGGGGACTGAGGAAAATAAGACTGAGTAGACTTCTGAGCGAAAGACAGATAAGGAAGGTAGACAATTTTTTGAACCCTGGAATGATTCTTACAGTGTAATTTCATTGCCTTTTAAAGGCTAGACATAGCTTTTGATGAAGACAGCTGAAGGGATCTCACCTCAAGAAGCCAAACATAAAGTATGTAGCTTTGGCATTTGCAGTTC... | GCTTTAAAAGCAGTTGTTTCCTTAAAATTCTAGAATAGAATTTAAAATATAGAATAAAGTATATACCAAGTACTTAAACTTTTGTTTTTAGTCTTGCTTTACTAGAGAAAAAAATGGGGGACTGAGGAAAATAAGACTGAGTAGACTTCTGAGCGAAAGACAGATAAGGAAGGTAGACAATTTTTTGAACCCTGGAATGATTCTTACAGTGTAATTTCATTGCCTTTTAAAGGCTAGACATAGCTTTTGATGAAGACAGCTGAAGGGATCTCACCTCAAGAAGCCAAACATAAAGTATGTAGCTTTGGCATTTGCAGTTC... | pathogenic | 228,480 |
Assess the variant on chromosome 15, position 25371000, impacting UBE3A: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Angelman_syndrome'] | AGACATAGCTTTTGATGAAGACAGCTGAAGGGATCTCACCTCAAGAAGCCAAACATAAAGTATGTAGCTTTGGCATTTGCAGTTCTGCTCCAACAATGGATAGTCATAGACAGACCTCAACATACCTTTCATAAAACATCACTCACATTCTTATAAAATACCCTATCATTCTGCTAAACTATGTAAAGTAAGGTGCTGGCTGCCTTATGATCAGTCATTAAGTGTATTAATTATTCATGTGTCTCAAAACTATGTAAGTGAAATAAAAAGGGTACCAGAAAGCAAGCAATAATAATGACTTCAGGCAGTTAAAGCCCCCT... | AGACATAGCTTTTGATGAAGACAGCTGAAGGGATCTCACCTCAAGAAGCCAAACATAAAGTATGTAGCTTTGGCATTTGCAGTTCTGCTCCAACAATGGATAGTCATAGACAGACCTCAACATACCTTTCATAAAACATCACTCACATTCTTATAAAATACCCTATCATTCTGCTAAACTATGTAAAGTAAGGTGCTGGCTGCCTTATGATCAGTCATTAAGTGTATTAATTATTCATGTGTCTCAAAACTATGTAAGTGAAATAAAAAGGGTACCAGAAAGCAAGCAATAATAATGACTTCAGGCAGTTAAAGCCCCCT... | pathogenic | 228,494 |
Chromosome 15, position 25371428, gene UBE3A: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Angelman_syndrome', 'Inborn_genetic_diseases'] | AAAAAAAAACACACAAAATCTCTGCAATTTTTAATTTCTGAGATGTCAAATAACTTTTTCCACCGGGCTACAGCTTTATGAATTCTCGAATTTAGACAATTCTAAAACTAAAATTTAGACATTCTAAAACTAAAATACATTTTAAAGTAAAAATCACATTTCCTAGTTGTCTGTGTCAGACAACTTTACTAGTATACTATAGTATTATTAACTACCTTAATTTTTGTTGACATTAAATTTTACTTGAAGATGATAAAAAAGTAGCAGCAATGACAGGGATAGCTAATACTAGAAATACAATAAAGCTCTGCGATAATGCA... | AAAAAAAAACACACAAAATCTCTGCAATTTTTAATTTCTGAGATGTCAAATAACTTTTTCCACCGGGCTACAGCTTTATGAATTCTCGAATTTAGACAATTCTAAAACTAAAATTTAGACATTCTAAAACTAAAATACATTTTAAAGTAAAAATCACATTTCCTAGTTGTCTGTGTCAGACAACTTTACTAGTATACTATAGTATTATTAACTACCTTAATTTTTGTTGACATTAAATTTTACTTGAAGATGATAAAAAAGTAGCAGCAATGACAGGGATAGCTAATACTAGAAATACAATAAAGCTCTGCGATAATGCA... | pathogenic | 228,508 |
Regarding the variant found on chromosome 15 at position 25371792 in gene UBE3A: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Angelman_syndrome'] | TTTCTGTCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTC... | TTTCTGTCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTC... | pathogenic | 228,520 |
Variant in gene UBE3A, located at chromosome 15 position 25371798: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Angelman_syndrome', 'UBE3A-related_disorder'] | TCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTCT... | TCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTCT... | pathogenic | 228,522 |
Variant in GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3), chromosome 15, position 26773040—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GTCCTAAGTGATATACTTTGGAAAAAAGTACATTTTTAAATACATGGGATTGTAAATTTAAAAGCTTTAGATTAACAGTGAAAAATTAATGAGAACAGCTTGGCGTGGTCAAAAGTTTCTTCCTATAAGATCCTTAGTGGTAGGTATTTTAAAAGTATCTCACTAACGTCTATTTTTAAAAATAGTTTTACTTTATTTGTATATATTCATATATCTGTGACTTACTGCAAAGTTTCTCAAAATATTGTCCACAAAATACCCGCTTCAAAATATTTGAAGAAGTAGTTTTAAATGCAGGGACCCCAAGACTCCAGCCTATC... | GTCCTAAGTGATATACTTTGGAAAAAAGTACATTTTTAAATACATGGGATTGTAAATTTAAAAGCTTTAGATTAACAGTGAAAAATTAATGAGAACAGCTTGGCGTGGTCAAAAGTTTCTTCCTATAAGATCCTTAGTGGTAGGTATTTTAAAAGTATCTCACTAACGTCTATTTTTAAAAATAGTTTTACTTTATTTGTATATATTCATATATCTGTGACTTACTGCAAAGTTTCTCAAAATATTGTCCACAAAATACCCGCTTCAAAATATTTGAAGAAGTAGTTTTAAATGCAGGGACCCCAAGACTCCAGCCTATC... | benign | 228,644 |
Chromosome 15, position 27851383, gene OCA2 (OCA2 melanosomal transmembrane protein): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic | TTCACTCTCCACGCTCACTTCACTTCCTTCCCACAGGTTTTCTGCCTTAGGATTGCACCTGCCAGTAACACCTTAGCACGTGCACTTGCCTCCACCTCTGCTTTCCAGGAAACTCAGGCAAAGGCAGGTTTTTCTGAAGGCTTATTTGAATAGTTCTTAGCTCTTCATGAAAAGAGCAACCAAAAAATACTGGGGTCAGACCAGTTAAAAAAAAAAAAAGTTGTTTCAAAGTATCCAGTGAATCACCTCCAATTTATAGAGCAAATGACATTTCTAAAACCAAATGAAAACTTCTATTTAAAGTGTTCCTCAGAATGCCA... | TTCACTCTCCACGCTCACTTCACTTCCTTCCCACAGGTTTTCTGCCTTAGGATTGCACCTGCCAGTAACACCTTAGCACGTGCACTTGCCTCCACCTCTGCTTTCCAGGAAACTCAGGCAAAGGCAGGTTTTTCTGAAGGCTTATTTGAATAGTTCTTAGCTCTTCATGAAAAGAGCAACCAAAAAATACTGGGGTCAGACCAGTTAAAAAAAAAAAAAGTTGTTTCAAAGTATCCAGTGAATCACCTCCAATTTATAGAGCAAATGACATTTCTAAAACCAAATGAAAACTTCTATTTAAAGTGTTCCTCAGAATGCCA... | pathogenic | 228,683 |
Clinical significance of chromosome 15, position 27871160, gene OCA2 (OCA2 melanosomal transmembrane protein): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['OCA2-related_disorder'] | GACACCTCATGCTAGCGTGGCACAGTCACTCCGGGGAGATGCATGGGCTTTGAAGAGCTGTGTGTCCACCTCTGCACCCTGTGGCTGCTGTGGTCATGCTGTATGTGGCTTCTGCCCCTGTGGACACACAAGAGCCAGCATCCCACCCTCAGCACCCCCACAGCGGCCACTGCAGAGATGGATGGGACCCACATTCATGAGGGCAGAGATGGTCCTGAGACTCCAGGGGAAGAACAGAGACCTGCCTGTTTATCTGTAATGTTGTATTTCTTGATAAAACACACAACAAATTCTGAGGCAAAGAGGATAAAATGTTGACA... | GACACCTCATGCTAGCGTGGCACAGTCACTCCGGGGAGATGCATGGGCTTTGAAGAGCTGTGTGTCCACCTCTGCACCCTGTGGCTGCTGTGGTCATGCTGTATGTGGCTTCTGCCCCTGTGGACACACAAGAGCCAGCATCCCACCCTCAGCACCCCCACAGCGGCCACTGCAGAGATGGATGGGACCCACATTCATGAGGGCAGAGATGGTCCTGAGACTCCAGGGGAAGAACAGAGACCTGCCTGTTTATCTGTAATGTTGTATTTCTTGATAAAACACACAACAAATTCTGAGGCAAAGAGGATAAAATGTTGACA... | pathogenic | 228,696 |
Gene OCA2 (OCA2 melanosomal transmembrane protein) variant at chromosome 15, position 27871216—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['OCA2-related_disorder', 'SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES', 'Tyrosinase-positive_oculocutaneous_albinism'] | GCTGTGTGTCCACCTCTGCACCCTGTGGCTGCTGTGGTCATGCTGTATGTGGCTTCTGCCCCTGTGGACACACAAGAGCCAGCATCCCACCCTCAGCACCCCCACAGCGGCCACTGCAGAGATGGATGGGACCCACATTCATGAGGGCAGAGATGGTCCTGAGACTCCAGGGGAAGAACAGAGACCTGCCTGTTTATCTGTAATGTTGTATTTCTTGATAAAACACACAACAAATTCTGAGGCAAAGAGGATAAAATGTTGACACTTTCTCACTTTCTGTGGTGAACATATGGATATTTGTTGTACTATTGTCTCTGATT... | GCTGTGTGTCCACCTCTGCACCCTGTGGCTGCTGTGGTCATGCTGTATGTGGCTTCTGCCCCTGTGGACACACAAGAGCCAGCATCCCACCCTCAGCACCCCCACAGCGGCCACTGCAGAGATGGATGGGACCCACATTCATGAGGGCAGAGATGGTCCTGAGACTCCAGGGGAAGAACAGAGACCTGCCTGTTTATCTGTAATGTTGTATTTCTTGATAAAACACACAACAAATTCTGAGGCAAAGAGGATAAAATGTTGACACTTTCTCACTTTCTGTGGTGAACATATGGATATTTGTTGTACTATTGTCTCTGATT... | pathogenic | 228,703 |
Clinically, how would you classify the variant at chromosome 15, position 27871866, gene OCA2 (OCA2 melanosomal transmembrane protein): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES'] | ATTGGGTAAGGGCAGCCCTGCCAGAAGGCATCAGCCTGCCTGGGGCGCAGGGAGAGGTGGAGCCAGCTGGGCCACAGCCGGGACATTTGACAACAGCCGCAAGAGTTCTCCAATTTGGAACTTCACCAAAAAAATAACAGCCACCGAGTTAGTTCAGGATTACCACACCCAGGCCCTGGAAGGAGAGCAACAGCCAAGCAACTAGAGGGCCAACCTAGGCAGAAACTAAATTCCAGGCTGCAAGCGAGGGATGCAGGTTCCCAGATCCGCCTAAGGTCGGCGCTGCATGAGCCTGGCCTGCCCTTCTCCCCACACAGCCA... | ATTGGGTAAGGGCAGCCCTGCCAGAAGGCATCAGCCTGCCTGGGGCGCAGGGAGAGGTGGAGCCAGCTGGGCCACAGCCGGGACATTTGACAACAGCCGCAAGAGTTCTCCAATTTGGAACTTCACCAAAAAAATAACAGCCACCGAGTTAGTTCAGGATTACCACACCCAGGCCCTGGAAGGAGAGCAACAGCCAAGCAACTAGAGGGCCAACCTAGGCAGAAACTAAATTCCAGGCTGCAAGCGAGGGATGCAGGTTCCCAGATCCGCCTAAGGTCGGCGCTGCATGAGCCTGGCCTGCCCTTCTCCCCACACAGCCA... | pathogenic | 228,709 |
Variant at chromosome position 27871906, chromosome 15, gene OCA2 (OCA2 melanosomal transmembrane protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['OCA2-related_disorder', 'SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES', 'Tyrosinase-positive_oculocutaneous_albinism'] | TGGGGCGCAGGGAGAGGTGGAGCCAGCTGGGCCACAGCCGGGACATTTGACAACAGCCGCAAGAGTTCTCCAATTTGGAACTTCACCAAAAAAATAACAGCCACCGAGTTAGTTCAGGATTACCACACCCAGGCCCTGGAAGGAGAGCAACAGCCAAGCAACTAGAGGGCCAACCTAGGCAGAAACTAAATTCCAGGCTGCAAGCGAGGGATGCAGGTTCCCAGATCCGCCTAAGGTCGGCGCTGCATGAGCCTGGCCTGCCCTTCTCCCCACACAGCCAGGCCTGCTGCTCCAGCCCGGGGGTGCCATTGTTCAGAATA... | TGGGGCGCAGGGAGAGGTGGAGCCAGCTGGGCCACAGCCGGGACATTTGACAACAGCCGCAAGAGTTCTCCAATTTGGAACTTCACCAAAAAAATAACAGCCACCGAGTTAGTTCAGGATTACCACACCCAGGCCCTGGAAGGAGAGCAACAGCCAAGCAACTAGAGGGCCAACCTAGGCAGAAACTAAATTCCAGGCTGCAAGCGAGGGATGCAGGTTCCCAGATCCGCCTAAGGTCGGCGCTGCATGAGCCTGGCCTGCCCTTCTCCCCACACAGCCAGGCCTGCTGCTCCAGCCCGGGGGTGCCATTGTTCAGAATA... | pathogenic | 228,710 |
Benign or pathogenic: chromosome 15, position 27926150, gene OCA2 (OCA2 melanosomal transmembrane protein) variant? Disease(s) if pathogenic? | pathogenic; ['SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES', 'Tyrosinase-positive_oculocutaneous_albinism'] | TATTGAGTAGAGACTGCCTGCCCCACTGCTTGTTTTGGTCAGCTTTGTCGAAGATCAGATGGTCATAGGTGTACAGCCTTATTTCTGGGCTCTCTGTTCTGTTCCATTGGTCTATGTGACATACCTAACTTTGACTTAATTTTTTTCAATATTTCTAAGCTATGCAGTTCATCTGTGTTTTTTCAAATTATCACAAATCTCCAAAAAAAATTCCCATACATTTATTGAAAAAGATCTCCATATAAGTAGACCCATGCAGTTCAAATCCATGTTGTTCAAGGGTCAATTGTATGTCTTTTTTTTATCATTTTTCTTTTTTC... | TATTGAGTAGAGACTGCCTGCCCCACTGCTTGTTTTGGTCAGCTTTGTCGAAGATCAGATGGTCATAGGTGTACAGCCTTATTTCTGGGCTCTCTGTTCTGTTCCATTGGTCTATGTGACATACCTAACTTTGACTTAATTTTTTTCAATATTTCTAAGCTATGCAGTTCATCTGTGTTTTTTCAAATTATCACAAATCTCCAAAAAAAATTCCCATACATTTATTGAAAAAGATCTCCATATAAGTAGACCCATGCAGTTCAAATCCATGTTGTTCAAGGGTCAATTGTATGTCTTTTTTTTATCATTTTTCTTTTTTC... | pathogenic | 228,714 |
Is chromosome 15, position 27926150, gene OCA2 (OCA2 melanosomal transmembrane protein) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['OCA2-related_disorder', 'Oculocutaneous_albinism', 'Tyrosinase-positive_oculocutaneous_albinism'] | TATTGAGTAGAGACTGCCTGCCCCACTGCTTGTTTTGGTCAGCTTTGTCGAAGATCAGATGGTCATAGGTGTACAGCCTTATTTCTGGGCTCTCTGTTCTGTTCCATTGGTCTATGTGACATACCTAACTTTGACTTAATTTTTTTCAATATTTCTAAGCTATGCAGTTCATCTGTGTTTTTTCAAATTATCACAAATCTCCAAAAAAAATTCCCATACATTTATTGAAAAAGATCTCCATATAAGTAGACCCATGCAGTTCAAATCCATGTTGTTCAAGGGTCAATTGTATGTCTTTTTTTTATCATTTTTCTTTTTTC... | TATTGAGTAGAGACTGCCTGCCCCACTGCTTGTTTTGGTCAGCTTTGTCGAAGATCAGATGGTCATAGGTGTACAGCCTTATTTCTGGGCTCTCTGTTCTGTTCCATTGGTCTATGTGACATACCTAACTTTGACTTAATTTTTTTCAATATTTCTAAGCTATGCAGTTCATCTGTGTTTTTTCAAATTATCACAAATCTCCAAAAAAAATTCCCATACATTTATTGAAAAAGATCTCCATATAAGTAGACCCATGCAGTTCAAATCCATGTTGTTCAAGGGTCAATTGTATGTCTTTTTTTTATCATTTTTCTTTTTTC... | pathogenic | 228,715 |
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