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 |
|---|---|---|---|---|---|
Determine whether the variant at chromosome 3, position 52405858, in gene BAP1 (BRCA1 associated deubiquitinase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTG... | GATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTG... | pathogenic | 69,543 |
Clinical significance of chromosome 3, position 52405864, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATG... | GTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATG... | pathogenic | 69,544 |
Considering the variant on chromosome 3, location 52405864, involving gene BAP1 (BRCA1 associated deubiquitinase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome'] | GTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATG... | GTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATG... | pathogenic | 69,545 |
Does the variant impacting BAP1 (BRCA1 associated deubiquitinase 1) on chromosome 3, position 52405871, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTG... | TGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTG... | pathogenic | 69,546 |
Benign or pathogenic: chromosome 3, position 52405878, gene BAP1 (BRCA1 associated deubiquitinase 1) variant? Disease(s) if pathogenic? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome'] | CTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGC... | CTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGC... | pathogenic | 69,548 |
Variant in gene BAP1 (BRCA1 associated deubiquitinase 1), located at chromosome 3 position 52405895: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACC... | GCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACC... | pathogenic | 69,553 |
Variant at chromosome 3, position 52405900, gene BAP1 (BRCA1 associated deubiquitinase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCA... | ACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCA... | pathogenic | 69,555 |
Chromosome 3, position 52406264, gene BAP1 (BRCA1 associated deubiquitinase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGG... | AAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGG... | pathogenic | 69,576 |
Determine whether the variant at chromosome 3, position 52406277, in gene BAP1 (BRCA1 associated deubiquitinase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACT... | CAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACT... | pathogenic | 69,582 |
Classify the chromosome 3 variant at position 52406277 affecting gene BAP1 (BRCA1 associated deubiquitinase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACT... | CAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACT... | pathogenic | 69,583 |
Is the genetic mutation found on chromosome 3 at position 52406807, within the gene BAP1 (BRCA1 associated deubiquitinase 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGT... | TGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGT... | benign | 69,606 |
Considering the genetic mutation at chromosome 3, position 52406821, impacting BAP1 (BRCA1 associated deubiquitinase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAA... | CGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAA... | benign | 69,613 |
Does the variant on chromosome 3 at location 52406827 affecting gene BAP1 (BRCA1 associated deubiquitinase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGC... | GGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGC... | pathogenic | 69,615 |
Determine if the mutation at chromosome 3, position 52406843 in gene BAP1 (BRCA1 associated deubiquitinase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCA... | GAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCA... | pathogenic | 69,618 |
Mutation found at chromosome 3 position 52406848, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGG... | CCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGG... | pathogenic | 69,620 |
A mutation at chromosome position 52406862 on chromosome 3 in gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATT... | CCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATT... | pathogenic | 69,624 |
Located at chromosome 3 position 52406868, the variant affecting gene BAP1 (BRCA1 associated deubiquitinase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATT... | TTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATT... | pathogenic | 69,627 |
The mutation in gene BAP1 (BRCA1 associated deubiquitinase 1) at chromosome 3, position 52406895—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGAC... | GTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGAC... | pathogenic | 69,634 |
The genetic variant at chromosome 3, position 52406895, affecting gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGAC... | GTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGAC... | pathogenic | 69,635 |
Clinical significance of chromosome 3, position 52407210, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAA... | TGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAA... | pathogenic | 69,658 |
The mutation impacting BAP1 (BRCA1 associated deubiquitinase 1) on chromosome 3 at position 52407236: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAA... | AACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAA... | pathogenic | 69,664 |
Evaluate if the mutation on chromosome 3 at position 52407243 in BAP1 (BRCA1 associated deubiquitinase 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAA... | TTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAA... | pathogenic | 69,665 |
Is the genetic variant on chromosome 3, position 52407294, gene BAP1 (BRCA1 associated deubiquitinase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAA... | CTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAA... | pathogenic | 69,678 |
Variant at chromosome position 52407334, chromosome 3, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTG... | CTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTG... | benign | 69,688 |
Variant at chromosome position 52407375, chromosome 3, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGAC... | CAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGAC... | benign | 69,689 |
Evaluate this variant at chromosome 3, position 52407399, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGAC... | ACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGAC... | pathogenic | 69,695 |
Variant in gene BAP1 (BRCA1 associated deubiquitinase 1), located at chromosome 3 position 52407470: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACA... | CAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACA... | benign | 69,712 |
Evaluate this variant at chromosome 3, position 52408456, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCA... | TCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCA... | benign | 69,748 |
Located at chromosome 3 position 52408464, the variant affecting gene BAP1 (BRCA1 associated deubiquitinase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGG... | CGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGG... | benign | 69,750 |
Does the chromosome 3 mutation at position 52408467 within gene BAP1 (BRCA1 associated deubiquitinase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCT... | CCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCT... | benign | 69,751 |
Clinically, how would you classify the variant at chromosome 3, position 52408489, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGA... | ATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGA... | pathogenic | 69,756 |
Evaluate this variant at chromosome 3, position 52408599, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGG... | CCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGG... | pathogenic | 69,787 |
Determine whether the variant at chromosome 3, position 52408616, in gene BAP1 (BRCA1 associated deubiquitinase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTC... | GGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTC... | benign | 69,791 |
Chromosome 3, position 52409556, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome'] | AGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATG... | AGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATG... | pathogenic | 69,804 |
Located at chromosome 3 position 52409584, the variant affecting gene BAP1 (BRCA1 associated deubiquitinase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAA... | GAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAA... | pathogenic | 69,813 |
Is chromosome 3, position 52409596, gene BAP1 (BRCA1 associated deubiquitinase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGT... | GAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGT... | pathogenic | 69,815 |
Does the chromosome 3 mutation at position 52409596 within gene BAP1 (BRCA1 associated deubiquitinase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Melanoma,_uveal,_susceptibility_to,_2'] | GAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGT... | GAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGT... | pathogenic | 69,816 |
Benign or pathogenic: chromosome 3, position 52409612, gene BAP1 (BRCA1 associated deubiquitinase 1) variant? Disease(s) if pathogenic? | benign | CGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGG... | CGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGG... | benign | 69,822 |
Considering the variant on chromosome 3, location 52409706, involving gene BAP1 (BRCA1 associated deubiquitinase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGG... | TAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGG... | benign | 69,834 |
For chromosome 3, position 52409715, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCT... | GACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCT... | pathogenic | 69,836 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 52409749, gene BAP1 (BRCA1 associated deubiquitinase 1): what disease(s) if pathogenic? | benign | TCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCT... | TCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCT... | benign | 69,850 |
Variant in BAP1 (BRCA1 associated deubiquitinase 1), chromosome 3, position 52409757—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGT... | GAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGT... | benign | 69,856 |
A mutation at chromosome position 52409759 on chromosome 3 in gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTC... | GAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTC... | benign | 69,857 |
Does the genetic variant at chromosome 3, position 53179799, impacting gene PRKCD (protein kinase C delta), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GATGCAAATGCCACCAGGGCCCAGGTAGGAGGAGTGAAGAGAGTGCCCCTGGCCTGGGGTAGATTGATGGAGGGCAGCCATCCCAGTGCTAGCTGGCTGTTGCCCAGTGGGCCCAACATCACATTTTCCAGTTTTACCAGAGACGCCGCAAATCCAGACTTACATAAACCTCTCAATATTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTTTGGCTCTTGTCACCCAGGCTGGAGTGTACTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCC... | GATGCAAATGCCACCAGGGCCCAGGTAGGAGGAGTGAAGAGAGTGCCCCTGGCCTGGGGTAGATTGATGGAGGGCAGCCATCCCAGTGCTAGCTGGCTGTTGCCCAGTGGGCCCAACATCACATTTTCCAGTTTTACCAGAGACGCCGCAAATCCAGACTTACATAAACCTCTCAATATTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTTTGGCTCTTGTCACCCAGGCTGGAGTGTACTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCC... | benign | 70,038 |
Benign or pathogenic: chromosome 3, position 53186457, gene PRKCD (protein kinase C delta) variant? Disease(s) if pathogenic? | benign | CTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTGGGGAGTTCGAGACCAGCCTGGCTAACATGGAAAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGATATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAATAAGAGGGAAACTCCATCTCAAAAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGATCGAAGTATTTATGATGGC... | CTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTGGGGAGTTCGAGACCAGCCTGGCTAACATGGAAAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGATATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAATAAGAGGGAAACTCCATCTCAAAAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGATCGAAGTATTTATGATGGC... | benign | 70,054 |
A genetic alteration at chromosome 3, position 53186747, in gene PRKCD (protein kinase C delta)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AGAGAGAGAGATCGAAGTATTTATGATGGCTTCAGATCAATGTTTTCCTAGAAACTGGAACCCAGCAGACCCCACTGAAGCCCTCCTTTCTCTTGCTCTCCTGCGCCTCTCCTACACTGCCCCCTGCCCTTGGCTGAGCTCTGAGACTGACAGCCCCGCTTCTCCCTCACCCCAGACTGCGGCATGAATGTGCACCATAAATGCCGGGAGAAGGTGGCCAACCTCTGCGGCATCAACCAGAAGCTTTTGGCTGAGGCCTTGAACCAAGTCACCCAGGTGGGCAGGTGCCATGGGGACCCTGGACACAGGGCAGTGGGGTC... | AGAGAGAGAGATCGAAGTATTTATGATGGCTTCAGATCAATGTTTTCCTAGAAACTGGAACCCAGCAGACCCCACTGAAGCCCTCCTTTCTCTTGCTCTCCTGCGCCTCTCCTACACTGCCCCCTGCCCTTGGCTGAGCTCTGAGACTGACAGCCCCGCTTCTCCCTCACCCCAGACTGCGGCATGAATGTGCACCATAAATGCCGGGAGAAGGTGGCCAACCTCTGCGGCATCAACCAGAAGCTTTTGGCTGAGGCCTTGAACCAAGTCACCCAGGTGGGCAGGTGCCATGGGGACCCTGGACACAGGGCAGTGGGGTC... | benign | 70,057 |
Evaluate the clinical significance of the mutation at chromosome 3, position 53673802 in gene CACNA1D (calcium voltage-gated channel subunit alpha1 D): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Sinoatrial_node_dysfunction_and_deafness'] | TCCCTATTTGGCTTCTCGAGGCAAACATTGTGAAATGCACGAGCCTCATTCTGTAAAGTTAAAACCTGGAGCCAGATCATATGCAGGAAAGCACATGCTTAACACCCTAAGGGCTTGCACCTGCAAGGCAAGAGCGATGGCTCTATCCAGACTGTTTGCAGTTCTCATTGGCTGAAAATTCTGGGTGTTGTGGCAGGGTCATACCTTGGGCCATCCATTCTGTCCCCTGACTGGTTCTTAACACCTCCTTCCTGGGAAAGGTGTTTTGCTGAATTTAACATTGACCTGTGCTGCTGGAAAGTTCCATCCAGCTGTGATCC... | TCCCTATTTGGCTTCTCGAGGCAAACATTGTGAAATGCACGAGCCTCATTCTGTAAAGTTAAAACCTGGAGCCAGATCATATGCAGGAAAGCACATGCTTAACACCCTAAGGGCTTGCACCTGCAAGGCAAGAGCGATGGCTCTATCCAGACTGTTTGCAGTTCTCATTGGCTGAAAATTCTGGGTGTTGTGGCAGGGTCATACCTTGGGCCATCCATTCTGTCCCCTGACTGGTTCTTAACACCTCCTTCCTGGGAAAGGTGTTTTGCTGAATTTAACATTGACCTGTGCTGCTGGAAAGTTCCATCCAGCTGTGATCC... | pathogenic | 70,113 |
Clinical significance of chromosome 3, position 53808664, gene CACNA1D (calcium voltage-gated channel subunit alpha1 D): benign or pathogenic? Name the disease(s) if pathogenic. | benign | TAATCAGTAACCAAAAATAGCCGTGACACATCGGCTTCTGAGTCTGCCAACTGCATATACTATAAAGAGCACCACTGGGAGGTGCCCAGGGCCCTCTGCCTCACTCCAACTGTCACAGCCCCACTGGGGAGTGTGACCAGACCCATTTCCATGGTTAATATTTAATTCCTCAGCCCTGAACACATGCAGCTAAATGAAGTCACTCCTTTCCCATAAATACTAGATGAAGCAGATGCAGGTGAGGCCGGGTGATGGCCCTCGCCCTTGTGAGTTCCACTGCCTTCCTCGGGCCTCGGCCTTTGTCTACTGCCTACTTGGCC... | TAATCAGTAACCAAAAATAGCCGTGACACATCGGCTTCTGAGTCTGCCAACTGCATATACTATAAAGAGCACCACTGGGAGGTGCCCAGGGCCCTCTGCCTCACTCCAACTGTCACAGCCCCACTGGGGAGTGTGACCAGACCCATTTCCATGGTTAATATTTAATTCCTCAGCCCTGAACACATGCAGCTAAATGAAGTCACTCCTTTCCCATAAATACTAGATGAAGCAGATGCAGGTGAGGCCGGGTGATGGCCCTCGCCCTTGTGAGTTCCACTGCCTTCCTCGGGCCTCGGCCTTTGTCTACTGCCTACTTGGCC... | benign | 70,217 |
A genetic variant at chromosome 3, position 54918482, affecting gene CACNA2D3—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TGATGGGTCAGCAGGCTTTCCTTGGGGTCTTTCTTTGATCTACAATTTAAGGTATTTCAGTTTCTTTCGATATTCAGAAAAAAATTACCATCGAAATTTAAACTTTGTCCCCTAGAAAAATCATCTAGCAAAATTGCTGCTCCAGAAAGGTGGTCCATCTTTAGCCTCTGGGTGTGTGGGGCCCACACTAGCTATGAAGCACCATGGCAGGTGTAGATTGTCTCTGTGATTATTAGAGGTGCATCCGTGTGAGACCTGCACAGTAGGAAGTGATAGGTTCACCCGTTTCCCTGCATCTATCCCATACACATGTGAACCTT... | TGATGGGTCAGCAGGCTTTCCTTGGGGTCTTTCTTTGATCTACAATTTAAGGTATTTCAGTTTCTTTCGATATTCAGAAAAAAATTACCATCGAAATTTAAACTTTGTCCCCTAGAAAAATCATCTAGCAAAATTGCTGCTCCAGAAAGGTGGTCCATCTTTAGCCTCTGGGTGTGTGGGGCCCACACTAGCTATGAAGCACCATGGCAGGTGTAGATTGTCTCTGTGATTATTAGAGGTGCATCCGTGTGAGACCTGCACAGTAGGAAGTGATAGGTTCACCCGTTTCCCTGCATCTATCCCATACACATGTGAACCTT... | benign | 70,245 |
A genetic variant on chromosome 3, position 57106167, affects the gene IL17RD (interleukin 17 receptor D). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | ATGGACCATATGATTACATAAAAATATTTGTTTGAAATATTTAATGAAGAGATCAAAAATCAATTATATATAAACTTTTTTTAAAAGCATGTTAAGAACCATATAAAAATATAACTGTGCACACCTTCAATAGCTTGAAATTTTAGTGTTGTAAACAGTTGGAATTCTATATGAACTGGGTTCATTCTATAGCATTAATAGGGCTTTCTTGTGTTATGCATACCTCAATTATATAATCCCCTGGAGAAACATTTTGAAGGAGGCAGCTGGTCGTCTCTGTAGTTTGCTCCTGCAACAGACCAAAGAACACTTTAAAAACT... | ATGGACCATATGATTACATAAAAATATTTGTTTGAAATATTTAATGAAGAGATCAAAAATCAATTATATATAAACTTTTTTTAAAAGCATGTTAAGAACCATATAAAAATATAACTGTGCACACCTTCAATAGCTTGAAATTTTAGTGTTGTAAACAGTTGGAATTCTATATGAACTGGGTTCATTCTATAGCATTAATAGGGCTTTCTTGTGTTATGCATACCTCAATTATATAATCCCCTGGAGAAACATTTTGAAGGAGGCAGCTGGTCGTCTCTGTAGTTTGCTCCTGCAACAGACCAAAGAACACTTTAAAAACT... | benign | 70,295 |
Determine if the mutation at chromosome 3, position 57114827 in gene IL17RD (interleukin 17 receptor D) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TTCTTCTGAGATTTATCCTGTTCCGATTAAGAAATTCAGACTTTACTTCTCCCTTGGCCAGGTTTTCACAAACTTGTAACATCAGGTGGCAGTGTCAAAGCGGCAGTCCTGAGAACCAGGTTCTGATCATGGTAATAGCAGCCACTATTCTTTGAGAGTTCTCTCTGAAAATGTACCATGTGTGTCTCTAACCATGAGGCAGTTCTCATCTCCCCTCTACAGATTGGGAAGCTGGGGTTCAGTGAGGTTCAATGCCTCATGTGAAAGATCAATTCTGGGGGTTCAAACCCAGGCCCACCTGAACAAATGGTCCCCTTCCT... | TTCTTCTGAGATTTATCCTGTTCCGATTAAGAAATTCAGACTTTACTTCTCCCTTGGCCAGGTTTTCACAAACTTGTAACATCAGGTGGCAGTGTCAAAGCGGCAGTCCTGAGAACCAGGTTCTGATCATGGTAATAGCAGCCACTATTCTTTGAGAGTTCTCTCTGAAAATGTACCATGTGTGTCTCTAACCATGAGGCAGTTCTCATCTCCCCTCTACAGATTGGGAAGCTGGGGTTCAGTGAGGTTCAATGCCTCATGTGAAAGATCAATTCTGGGGGTTCAAACCCAGGCCCACCTGAACAAATGGTCCCCTTCCT... | benign | 70,297 |
Is the variant located on chromosome 3 at position 57257436, gene APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CTAGACTAGTTTAGTAACTGATTGATATGAAGGATGAAAGAGATGACTAAGGTAAAGATGACTTCCAGGTTTTAAACCCAAGGGAAGAGAAGAAGAATTTGGGAAAGAAGAGTTCTGTTTTTATCTTAACGGCTTTGAGGTGCCAGCTAAGGAATGCCTAGGAGGAAGTTTTGAACCATAGAAACAAAATCTCATGACCTCCAAAATACTCGTAATTTGTTAGTTTTATAATGTTATTATATTTACATTGTAACATATTTATTACAATTATGTCTAATAAAATAAATTATGAGTTTAATTACGGAAAATCAGTGTTAACT... | CTAGACTAGTTTAGTAACTGATTGATATGAAGGATGAAAGAGATGACTAAGGTAAAGATGACTTCCAGGTTTTAAACCCAAGGGAAGAGAAGAAGAATTTGGGAAAGAAGAGTTCTGTTTTTATCTTAACGGCTTTGAGGTGCCAGCTAAGGAATGCCTAGGAGGAAGTTTTGAACCATAGAAACAAAATCTCATGACCTCCAAAATACTCGTAATTTGTTAGTTTTATAATGTTATTATATTTACATTGTAACATATTTATTACAATTATGTCTAATAAAATAAATTATGAGTTTAATTACGGAAAATCAGTGTTAACT... | benign | 70,328 |
Variant at chromosome 3, position 57831369, gene SLMAP (sarcolemma associated protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GGCTTAGTAACCCACTAATGTATCAGAACTTGAAGTTTGAAAACCACTGTAAATATCATATAATCCCCTTATTTAACTTGCCCAGGCACATATTACTAAAAATAACCTGACCAGAATCCAGACATTACCACATTTCCCAAGAATATATTTATTAAAAAAAAAACTCTCTTATACAATGTAACATTAAGTTCCAGTGTAGAAAAAATTTTGAGGGTAAATATTCCTACTTGAAAGTATTGTCTGTCCTTATCTCCCTGGGTGAAATGTTAAGTCCTGTAAGTTTCAAATGTATTTAAAATATCAACACAATTTTCTAATTA... | GGCTTAGTAACCCACTAATGTATCAGAACTTGAAGTTTGAAAACCACTGTAAATATCATATAATCCCCTTATTTAACTTGCCCAGGCACATATTACTAAAAATAACCTGACCAGAATCCAGACATTACCACATTTCCCAAGAATATATTTATTAAAAAAAAAACTCTCTTATACAATGTAACATTAAGTTCCAGTGTAGAAAAAATTTTGAGGGTAAATATTCCTACTTGAAAGTATTGTCTGTCCTTATCTCCCTGGGTGAAATGTTAAGTCCTGTAAGTTTCAAATGTATTTAAAATATCAACACAATTTTCTAATTA... | benign | 70,359 |
Classify the chromosome 3 variant at position 57860849 affecting gene SLMAP (sarcolemma associated protein) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGACAGGAGAATCCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCAATGTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAACAACAACAACAACAACAAAAAAGTTACAAAAATAATGATGTAATTCTGTTATTCCTTCACTTATTTAGCTGGGTTACTTCTATAAAGAGAAGTTTCCTTCCATACACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCGGATTGCTTGAGGTCAGGAGTT... | GCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGACAGGAGAATCCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCAATGTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAACAACAACAACAACAACAAAAAAGTTACAAAAATAATGATGTAATTCTGTTATTCCTTCACTTATTTAGCTGGGTTACTTCTATAAAGAGAAGTTTCCTTCCATACACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCGGATTGCTTGAGGTCAGGAGTT... | benign | 70,375 |
A genetic alteration at chromosome 3, position 58104060, in gene FLNB (filamin B)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Spondylocarpotarsal_synostosis_syndrome'] | ACAAAGTTATATTGTGTCTGTATTTGCTAGCCTGGTGTGCTCCCTGAGTGGGACCCCTGGTCTTGGGCAACTACTGCATACTATTTGTGCAAAGCAAATATTTTCTTGGCGGGTGGCTCCAGGTTACCTTGGCTTTCACGACTCTGACTAAAGAATGAAAGATTGAATTGATGTCAAAACTGTGCTTGCAGCCTGCAATCCAAATGCCTGCCGGGCCAGTGGCCGAGGCCTACAACCCAAAGGCGTCCGTATCCGGGAGACCACAGATTTCAAGGTTGACACCAAAGCTGCAGGAAGTGGGGAGCTCGGTGTAACCATGA... | ACAAAGTTATATTGTGTCTGTATTTGCTAGCCTGGTGTGCTCCCTGAGTGGGACCCCTGGTCTTGGGCAACTACTGCATACTATTTGTGCAAAGCAAATATTTTCTTGGCGGGTGGCTCCAGGTTACCTTGGCTTTCACGACTCTGACTAAAGAATGAAAGATTGAATTGATGTCAAAACTGTGCTTGCAGCCTGCAATCCAAATGCCTGCCGGGCCAGTGGCCGAGGCCTACAACCCAAAGGCGTCCGTATCCGGGAGACCACAGATTTCAAGGTTGACACCAAAGCTGCAGGAAGTGGGGAGCTCGGTGTAACCATGA... | pathogenic | 70,470 |
Benign or pathogenic: chromosome 3, position 58108844, gene FLNB (filamin B) variant? Disease(s) if pathogenic? | benign | TGTGACGACGAAGACATCAAGGACAGCCCGTACATGGCCTTCATCCACCCAGCCACGGGAGGCTACAACCCTGATCTGGTGAATCAGCTGCTGTGCTTCTGTCTTCTTGTCCCTGGCCCCTGGTTCCTCACCCCCATGCCCGAAGTTGCCTTAAGCAGCATGTTGAGAGATGGCAGAGAGGAATCATTTGGATTTTAGGAAGGAAACAGGCCTGCATTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGACTCTTGCTCTGTCGCCCAGGCTGGGGTACGGTGGCATGATCACAGCTCACTGGAACCTCT... | TGTGACGACGAAGACATCAAGGACAGCCCGTACATGGCCTTCATCCACCCAGCCACGGGAGGCTACAACCCTGATCTGGTGAATCAGCTGCTGTGCTTCTGTCTTCTTGTCCCTGGCCCCTGGTTCCTCACCCCCATGCCCGAAGTTGCCTTAAGCAGCATGTTGAGAGATGGCAGAGAGGAATCATTTGGATTTTAGGAAGGAAACAGGCCTGCATTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGACTCTTGCTCTGTCGCCCAGGCTGGGGTACGGTGGCATGATCACAGCTCACTGGAACCTCT... | benign | 70,488 |
Evaluate this variant at chromosome 3, position 58123703, gene FLNB (filamin B): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GGTCACAACCCTGCTCCTCCTCTTGCTCTCTGACTACAAGACTTTGGTGAGGGGCTCCCTGTCCCAGAGTCTTCTTTCTTCGCTTGTTAGCATAATCACAGTCCTCACTACAAAGCCAGCCTGTAAGGGGTAGGTGAGTTAGCAAACGTGGAGGCCTCTGCCCAGCACCCAGCTCACAGACGGAGCTCACCCTCCAGAAGCTAGAATCATGTAATATAAAAATACATTATTCTGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATC... | GGTCACAACCCTGCTCCTCCTCTTGCTCTCTGACTACAAGACTTTGGTGAGGGGCTCCCTGTCCCAGAGTCTTCTTTCTTCGCTTGTTAGCATAATCACAGTCCTCACTACAAAGCCAGCCTGTAAGGGGTAGGTGAGTTAGCAAACGTGGAGGCCTCTGCCCAGCACCCAGCTCACAGACGGAGCTCACCCTCCAGAAGCTAGAATCATGTAATATAAAAATACATTATTCTGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATC... | benign | 70,520 |
Does the variant impacting FLNB (filamin B) on chromosome 3, position 58123703, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GGTCACAACCCTGCTCCTCCTCTTGCTCTCTGACTACAAGACTTTGGTGAGGGGCTCCCTGTCCCAGAGTCTTCTTTCTTCGCTTGTTAGCATAATCACAGTCCTCACTACAAAGCCAGCCTGTAAGGGGTAGGTGAGTTAGCAAACGTGGAGGCCTCTGCCCAGCACCCAGCTCACAGACGGAGCTCACCCTCCAGAAGCTAGAATCATGTAATATAAAAATACATTATTCTGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATC... | GGTCACAACCCTGCTCCTCCTCTTGCTCTCTGACTACAAGACTTTGGTGAGGGGCTCCCTGTCCCAGAGTCTTCTTTCTTCGCTTGTTAGCATAATCACAGTCCTCACTACAAAGCCAGCCTGTAAGGGGTAGGTGAGTTAGCAAACGTGGAGGCCTCTGCCCAGCACCCAGCTCACAGACGGAGCTCACCCTCCAGAAGCTAGAATCATGTAATATAAAAATACATTATTCTGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATC... | benign | 70,521 |
Mutation found at chromosome 3 position 58134591, gene FLNB (filamin B): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GTCTCCTTAATTATACTCTAGGGCAGACTGAGTGTATTTTAGCCAACAAAAAGCTAAAGGTGTCTCTCGGGGTCATTTCTGCAACCATGAATTGGGGATCCTGTGATTTTTTTCAGGCCTGTGATTATGGTTGCTGGCCTTTTTGTTACTCATCAGTGGAAACCAATAGCTCTTGGGGATGGATGTGGTCCTATTTCAGACTCAGCCAAGGGTGGAGTAAAGGTGAGGCCAGGCAGCTCCTTAAACCTCTCATCTCTGTCCTCAGGCTTGGTGGAGCCAGTGAACGTGGTGGACAATGGAGATGGCACACACACAGTAAC... | GTCTCCTTAATTATACTCTAGGGCAGACTGAGTGTATTTTAGCCAACAAAAAGCTAAAGGTGTCTCTCGGGGTCATTTCTGCAACCATGAATTGGGGATCCTGTGATTTTTTTCAGGCCTGTGATTATGGTTGCTGGCCTTTTTGTTACTCATCAGTGGAAACCAATAGCTCTTGGGGATGGATGTGGTCCTATTTCAGACTCAGCCAAGGGTGGAGTAAAGGTGAGGCCAGGCAGCTCCTTAAACCTCTCATCTCTGTCCTCAGGCTTGGTGGAGCCAGTGAACGTGGTGGACAATGGAGATGGCACACACACAGTAAC... | benign | 70,568 |
Evaluate if the mutation on chromosome 3 at position 58429782 in PDHB (pyruvate dehydrogenase E1 subunit beta) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Pyruvate_dehydrogenase_E1-beta_deficiency'] | TCATGAGGACTCTGCCACATCCATACTTTGTCCTTGTGGTGAGAGAGGATAAAATGTTATATAATTTGTTATTCAAAGAACATGGCAACCGTAACAGACAAAAGGAAGCATGGCATCTAGGGGAGGAGAGTGGAGAGTTTTCCATACACAAACACATTTAAACTTCCCTGTACAAAAATACCTGCTGTTGCTTTAGAAATCGTTTTCCGTTATGAATAGTCAGGTCTTGCAGTACAAATCCAGGTGCAGTGCCAGCAAGTATTTCAAATAAATTTCAACGACTTGATATTCAAGTCCAAACTAAATATTTAATGTTTTCT... | TCATGAGGACTCTGCCACATCCATACTTTGTCCTTGTGGTGAGAGAGGATAAAATGTTATATAATTTGTTATTCAAAGAACATGGCAACCGTAACAGACAAAAGGAAGCATGGCATCTAGGGGAGGAGAGTGGAGAGTTTTCCATACACAAACACATTTAAACTTCCCTGTACAAAAATACCTGCTGTTGCTTTAGAAATCGTTTTCCGTTATGAATAGTCAGGTCTTGCAGTACAAATCCAGGTGCAGTGCCAGCAAGTATTTCAAATAAATTTCAACGACTTGATATTCAAGTCCAAACTAAATATTTAATGTTTTCT... | pathogenic | 70,700 |
A mutation at chromosome position 58431758 on chromosome 3 in gene PDHB (pyruvate dehydrogenase E1 subunit beta): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Pyruvate_dehydrogenase_E1-beta_deficiency'] | CACATTCAACTCCTTCTTTAGATAGCACTGCTGCAGCTTCTAAGCAGTGGCCCACAGGTCTTGAATGGGAAACCACAGTTATATGTGTTCCTGAAAACAGAGTGGTCACAGATCAGAGATCAGGTTGAAACTGAAGATGCTACACCACTGTGCCGCCAGCTGTGGCTCTTGTTCATTCATAAAGTCTTCAATTCAACTTCATTCCAGTGAGCTGAGGAATGTGGCAGCCTTCCTAGAAATGAAACACAAACCTACCAGACTGAGATCTAGAAAAGCACAACTGAATGAGAAATTGGGGCATCTTGAGCTCATCCTATAAT... | CACATTCAACTCCTTCTTTAGATAGCACTGCTGCAGCTTCTAAGCAGTGGCCCACAGGTCTTGAATGGGAAACCACAGTTATATGTGTTCCTGAAAACAGAGTGGTCACAGATCAGAGATCAGGTTGAAACTGAAGATGCTACACCACTGTGCCGCCAGCTGTGGCTCTTGTTCATTCATAAAGTCTTCAATTCAACTTCATTCCAGTGAGCTGAGGAATGTGGCAGCCTTCCTAGAAATGAAACACAAACCTACCAGACTGAGATCTAGAAAAGCACAACTGAATGAGAAATTGGGGCATCTTGAGCTCATCCTATAAT... | pathogenic | 70,716 |
Determine if the mutation at chromosome 3, position 58431957 in gene PDHB (pyruvate dehydrogenase E1 subunit beta) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Pyruvate_dehydrogenase_E1-beta_deficiency'] | CATTCCAGTGAGCTGAGGAATGTGGCAGCCTTCCTAGAAATGAAACACAAACCTACCAGACTGAGATCTAGAAAAGCACAACTGAATGAGAAATTGGGGCATCTTGAGCTCATCCTATAATTTTTCAGTCAAAGTAAATGACAGTAACTTCTAGATTAAATTTTACCAAAATTGAGGGGCTGGATTAAAAATACTGTTTATATATCTTAGTTTTCTTACCTTGCCTTTCTATTTTGGCTTTTCCAATAGGAATCAGAAAATCTTTTGACTGAGCTTCCGGAGGAAATTCAAAAGGAACCCCATACATCAATTCATTCTCT... | CATTCCAGTGAGCTGAGGAATGTGGCAGCCTTCCTAGAAATGAAACACAAACCTACCAGACTGAGATCTAGAAAAGCACAACTGAATGAGAAATTGGGGCATCTTGAGCTCATCCTATAATTTTTCAGTCAAAGTAAATGACAGTAACTTCTAGATTAAATTTTACCAAAATTGAGGGGCTGGATTAAAAATACTGTTTATATATCTTAGTTTTCTTACCTTGCCTTTCTATTTTGGCTTTTCCAATAGGAATCAGAAAATCTTTTGACTGAGCTTCCGGAGGAAATTCAAAAGGAACCCCATACATCAATTCATTCTCT... | pathogenic | 70,721 |
Evaluate this variant at chromosome 3, position 64594451, gene ADAMTS9 (ADAM metallopeptidase with thrombospondin type 1 motif 9): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CTACATGAAATAAACCTTATGTTTTCAGTTACAATAATTAGCAGTTCATGTTTTAAAATTTAAACATTTATGCTCTTAAAATATCTGTGGGGGAGGGTAGTGATCCTGTGTAAAAAAAAATTTAGCGTATTTAGAAAGTGTTTAAGGAAGAGAATACCATGGAAATTAATTTATAATTCTCTAAGACTTATGTTTTTCCCCCTGTTTTCCCAAATAATTCTTCCTGGAGAGGTAAATATAGAATAATCAATGGAACTGAGATGATCAATGGAATTGAGTCTGGGAAGGGAAATGCAGGTTTCTTTTTTTCACCAAACCAC... | CTACATGAAATAAACCTTATGTTTTCAGTTACAATAATTAGCAGTTCATGTTTTAAAATTTAAACATTTATGCTCTTAAAATATCTGTGGGGGAGGGTAGTGATCCTGTGTAAAAAAAAATTTAGCGTATTTAGAAAGTGTTTAAGGAAGAGAATACCATGGAAATTAATTTATAATTCTCTAAGACTTATGTTTTTCCCCCTGTTTTCCCAAATAATTCTTCCTGGAGAGGTAAATATAGAATAATCAATGGAACTGAGATGATCAATGGAATTGAGTCTGGGAAGGGAAATGCAGGTTTCTTTTTTTCACCAAACCAC... | benign | 70,815 |
Variant in gene ADAMTS9 (ADAM metallopeptidase with thrombospondin type 1 motif 9), located at chromosome 3 position 64621254: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TAGTTATAATCAGAGACTCAACCAGTCTCGTTCTGATTCAATCAGTGGAGAAAAAACAGGTAAGGGGCTCCAAGCAAGGTAGGGAACAGGGATGGGGCAAAAAAACTCATGGGAATTATTTCTTTTCACAAAGGAAGAGAAGCTACCCAGAATAGAATCCATGAGTAACACTCATCGTTATAACTGAATTAAGAATAAAAATAACTCTCTCCTAGGATTTAAGCACAGGATCTAGGTACAGATTTAGATTTCCGTCACTCCACTAACTCGTTGTGTGAGCTTGTGCAATTTGTTTAACGACTCTCAGCCTCTATTTTCCT... | TAGTTATAATCAGAGACTCAACCAGTCTCGTTCTGATTCAATCAGTGGAGAAAAAACAGGTAAGGGGCTCCAAGCAAGGTAGGGAACAGGGATGGGGCAAAAAAACTCATGGGAATTATTTCTTTTCACAAAGGAAGAGAAGCTACCCAGAATAGAATCCATGAGTAACACTCATCGTTATAACTGAATTAAGAATAAAAATAACTCTCTCCTAGGATTTAAGCACAGGATCTAGGTACAGATTTAGATTTCCGTCACTCCACTAACTCGTTGTGTGAGCTTGTGCAATTTGTTTAACGACTCTCAGCCTCTATTTTCCT... | benign | 70,838 |
Chromosome 3, position 67498302, gene SUCLG2 (succinate-CoA ligase GDP-forming subunit beta): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | AGGAAGTTTTAGGTTCTGCAAAGTGTAAGCTTAAGAGAATCAGGAGGCAGAGAAACAAGCTATTGGAAGTTGCTAGGACCTATGAATTACATTCTTTTTAATATACTTTAAGAGACAGGAGTAAAGAATGGAATTCTCAATGTTTTGTTTGCTGAGAATATGGTCCTTTGAATGTGGCATCTGTGGGATTGAACCACAGGCTTCCCAACTTCAGTGGGATTTTATACTTTTTTACACTTAGTACAGTCATACATGTTTACATAATGTTACCTGGATAAACTTAGAAACAAATGAACAAATGACTGCACAAAAACAATATT... | AGGAAGTTTTAGGTTCTGCAAAGTGTAAGCTTAAGAGAATCAGGAGGCAGAGAAACAAGCTATTGGAAGTTGCTAGGACCTATGAATTACATTCTTTTTAATATACTTTAAGAGACAGGAGTAAAGAATGGAATTCTCAATGTTTTGTTTGCTGAGAATATGGTCCTTTGAATGTGGCATCTGTGGGATTGAACCACAGGCTTCCCAACTTCAGTGGGATTTTATACTTTTTTACACTTAGTACAGTCATACATGTTTACATAATGTTACCTGGATAAACTTAGAAACAAATGAACAAATGACTGCACAAAAACAATATT... | benign | 70,912 |
Classify the chromosome 3 variant at position 68988303 affecting gene EOGT (EGF domain specific O-linked N-acetylglucosamine transferase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Adams-Oliver_syndrome', 'Adams-Oliver_syndrome_4'] | TCCATCTGCAACCTTACTTTCCCTATGCCATGTAACCTAACCTGTTCACAGATTCCAGGGATTTGGATGTGGACATCCTTTGGGAGGAGCAGGAAGAGACATTATTCTACCAACAACGCCCTGCTTTAAAACTTCACAATGGCTTTCCCCTACACTGGAATAAAATCCCTCTCCCACCAAGGTCTAGGAGGCTGATACGATCTGTGGCCCCCTGCACCATGCCTGACCTCTTGGATATCGCCCCACCTCTCTCAAGATGCTACAGTCATATTGGTATTCTGTTTCTAGAATACTGAAAGCTCAGTCCACTAGAATACATT... | TCCATCTGCAACCTTACTTTCCCTATGCCATGTAACCTAACCTGTTCACAGATTCCAGGGATTTGGATGTGGACATCCTTTGGGAGGAGCAGGAAGAGACATTATTCTACCAACAACGCCCTGCTTTAAAACTTCACAATGGCTTTCCCCTACACTGGAATAAAATCCCTCTCCCACCAAGGTCTAGGAGGCTGATACGATCTGTGGCCCCCTGCACCATGCCTGACCTCTTGGATATCGCCCCACCTCTCTCAAGATGCTACAGTCATATTGGTATTCTGTTTCTAGAATACTGAAAGCTCAGTCCACTAGAATACATT... | pathogenic | 70,932 |
A genetic variant on chromosome 3, position 69004435, affects the gene EOGT (EGF domain specific O-linked N-acetylglucosamine transferase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AATAGCCTGTCACACAGCAATAAGCAACTAATACAATTATGCCCTGAGCAACTACCATGTGGAATCAAATATCAGAAAGTACCAGGAATCAAAAAGCCCACTTGAATATAGAAACTACCTCTTGTAAAAGTCTGCTAAGTGACTTGAGACATTGCATTGCAGACTGCAAAATCCCAGATAAATGTGTGGTAGATCATTATTCTGAATGATCTGCAGCCAGGCAGTGAGGCCTCTTTAAGGACAAAAAAAAAAAAGGTTTGCTCAGCATGAATTTCTTTTTTTTTTTGAGACAGGGTCTTGATCCATCGCCCAGGCTGGAG... | AATAGCCTGTCACACAGCAATAAGCAACTAATACAATTATGCCCTGAGCAACTACCATGTGGAATCAAATATCAGAAAGTACCAGGAATCAAAAAGCCCACTTGAATATAGAAACTACCTCTTGTAAAAGTCTGCTAAGTGACTTGAGACATTGCATTGCAGACTGCAAAATCCCAGATAAATGTGTGGTAGATCATTATTCTGAATGATCTGCAGCCAGGCAGTGAGGCCTCTTTAAGGACAAAAAAAAAAAAGGTTTGCTCAGCATGAATTTCTTTTTTTTTTTGAGACAGGGTCTTGATCCATCGCCCAGGCTGGAG... | benign | 70,948 |
Gene EOGT (EGF domain specific O-linked N-acetylglucosamine transferase) variant at chromosome position 69009765 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Adams-Oliver_syndrome_4'] | TCCTTAGGCTGACAGAGCACATGCATCTCCTCCAGCCTCTCTCTGGCATATCCAAAGTCAGCTTGTTTCCAAAATATGTCCTCAGCTGACTCAAGAGTGTCCGTCCTATTTGCAAATAAAAATATTCTGTGTTTTTTTCTTTTTACTTTTTTGGACCTTGAATTTTCATTCTAAAGGTTAAAATGCTAGAGGTTCCTTATTACTTTAATTTTGTTACAGTATATTATCATAGTTTTTCCAAAACTACGCCTCACTACATGAAGTTACGAAACTAAGTTATTCACAGAATTATTCCTTTATCATAAAATACATAACAGACA... | TCCTTAGGCTGACAGAGCACATGCATCTCCTCCAGCCTCTCTCTGGCATATCCAAAGTCAGCTTGTTTCCAAAATATGTCCTCAGCTGACTCAAGAGTGTCCGTCCTATTTGCAAATAAAAATATTCTGTGTTTTTTTCTTTTTACTTTTTTGGACCTTGAATTTTCATTCTAAAGGTTAAAATGCTAGAGGTTCCTTATTACTTTAATTTTGTTACAGTATATTATCATAGTTTTTCCAAAACTACGCCTCACTACATGAAGTTACGAAACTAAGTTATTCACAGAATTATTCCTTTATCATAAAATACATAACAGACA... | pathogenic | 70,953 |
Regarding the variant at chromosome 3 and position 69941241, affecting gene MITF (melanocyte inducing transcription factor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Melanoma,_cutaneous_malignant,_susceptibility_to,_8', 'Tietz_syndrome', 'Waardenburg_syndrome_type_2A'] | CTTGGCAGCCTGAGGATGAACACTTTGTAATGAGAATCTATATTTGTGGTGGATCACACCTTCCTGAAAACTTAAGCATTTTTTTCCCCCATTGTTTTTTTTTTTTTTATAGAGAAAGCTAGGAACATTGCCATTTTCCTCATAGTATCTCATGATTAAATAATGACAAGGGAGAATAAACTAAAATGTGTTTTTCCCCTAAGTTGCTGCAAAGATTAAAAACTTCTTAAAGTACATAAATTTTAATAAGATATGAAATATGTACTTTAACATAATCCATATATGTTATACAAATTTGTAGGTTAGCAATTTTTGTATTA... | CTTGGCAGCCTGAGGATGAACACTTTGTAATGAGAATCTATATTTGTGGTGGATCACACCTTCCTGAAAACTTAAGCATTTTTTTCCCCCATTGTTTTTTTTTTTTTTATAGAGAAAGCTAGGAACATTGCCATTTTCCTCATAGTATCTCATGATTAAATAATGACAAGGGAGAATAAACTAAAATGTGTTTTTCCCCTAAGTTGCTGCAAAGATTAAAAACTTCTTAAAGTACATAAATTTTAATAAGATATGAAATATGTACTTTAACATAATCCATATATGTTATACAAATTTGTAGGTTAGCAATTTTTGTATTA... | pathogenic | 71,024 |
Evaluate if the mutation on chromosome 3 at position 69949098 in MITF (melanocyte inducing transcription factor) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Melanoma,_cutaneous_malignant,_susceptibility_to,_8', 'Tietz_syndrome', 'Waardenburg_syndrome_type_2A'] | CAACATAGGTCTATCAATGACTTGGAGATGTGTATCAGTTGCTATTATTTATCCCTAACAAATCATCATAATAACACAGTGAGTTTTGCATACAATTTGCCTATGAAAACCATATGTGTGATTTACCTTTCTAGAGCAAGTGGAATAATTTTTCTTTTAGCTTATTGCTTTGAATTTTCAAGTCACATTCTTGGTTTGTTAAAACCTCAACGTTTTCCCAAAATCCAAAATTCTCAAAAGATAGGGGAATAAAGCTTTGGAATCCAAGGAGTTACCAGACATCATGGCAGCTGTATAAGTTTAGTCTTTCTGGTACTTTA... | CAACATAGGTCTATCAATGACTTGGAGATGTGTATCAGTTGCTATTATTTATCCCTAACAAATCATCATAATAACACAGTGAGTTTTGCATACAATTTGCCTATGAAAACCATATGTGTGATTTACCTTTCTAGAGCAAGTGGAATAATTTTTCTTTTAGCTTATTGCTTTGAATTTTCAAGTCACATTCTTGGTTTGTTAAAACCTCAACGTTTTCCCAAAATCCAAAATTCTCAAAAGATAGGGGAATAAAGCTTTGGAATCCAAGGAGTTACCAGACATCATGGCAGCTGTATAAGTTTAGTCTTTCTGGTACTTTA... | pathogenic | 71,032 |
Determine if the mutation at chromosome 3, position 69956460 in gene MITF (melanocyte inducing transcription factor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Coloboma,_osteopetrosis,_microphthalmia,_macrocephaly,_albinism,_and_deafness', 'Melanoma,_cutaneous_malignant,_susceptibility_to,_8', 'Tietz_syndrome', 'Waardenburg_syndrome', 'Waardenburg_syndrome_type_2A'] | GACATGGGAGGTAGTGAATCAGTTTCAAAGAGGGTGACCAGAAAGTCTCTTAGGTAAATCTGAGTCTACCTGAGGGAGGTGAGTGCAGTGCTGTTCACATATCTGGAGGTACAGTGTTCCAGGCAGGTGGAACAGCCTTATGAAGTCCTCCAATGGGGCGTGTCTGGCTTGCTTGAGGAATAGCAAGGAGCCAGAGGGGCTAGAGTAATTTTATGATTATTATGTGCTTGGAAAAAAAATAAGAAGAAAGTATCATACTTCAGAGTTTTGGGGAAGGTTAGCTAGTGGATCAAGGACCCCACAATTCCTTCTTCAAAACC... | GACATGGGAGGTAGTGAATCAGTTTCAAAGAGGGTGACCAGAAAGTCTCTTAGGTAAATCTGAGTCTACCTGAGGGAGGTGAGTGCAGTGCTGTTCACATATCTGGAGGTACAGTGTTCCAGGCAGGTGGAACAGCCTTATGAAGTCCTCCAATGGGGCGTGTCTGGCTTGCTTGAGGAATAGCAAGGAGCCAGAGGGGCTAGAGTAATTTTATGATTATTATGTGCTTGGAAAAAAAATAAGAAGAAAGTATCATACTTCAGAGTTTTGGGGAAGGTTAGCTAGTGGATCAAGGACCCCACAATTCCTTCTTCAAAACC... | pathogenic | 71,046 |
Mutation at chromosome 3, position 69967400, within MITF (melanocyte inducing transcription factor): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AAATTTTTTTTCATGCTTTATCAATAGCCCAGGATATATTTTATTTTTAGAATTTTGTGAAACAGACTTGTATATTCTATTTTACAACTACAAATGCCTCCAAAGTATTGTACAAATAAGTGTGCAGTATCTGTGAACTGAATTCACCACAGACTTTAGCTTTCTGAGCAAGAGGATTTTGCGTCAGAGAAATGTCTGTCCATTTTTATTCAGGGGAAACTTGATTTGAGATTTTTATGCCTGTGACTTCCTTGGAAATCAAATGTAAAGTTTAATTGAAAGAATGTAAAGCAACCAAAAAGAAAAAAAAAAAGAAAGAA... | AAATTTTTTTTCATGCTTTATCAATAGCCCAGGATATATTTTATTTTTAGAATTTTGTGAAACAGACTTGTATATTCTATTTTACAACTACAAATGCCTCCAAAGTATTGTACAAATAAGTGTGCAGTATCTGTGAACTGAATTCACCACAGACTTTAGCTTTCTGAGCAAGAGGATTTTGCGTCAGAGAAATGTCTGTCCATTTTTATTCAGGGGAAACTTGATTTGAGATTTTTATGCCTGTGACTTCCTTGGAAATCAAATGTAAAGTTTAATTGAAAGAATGTAAAGCAACCAAAAAGAAAAAAAAAAAGAAAGAA... | benign | 71,105 |
Assess the variant on chromosome 3, position 70977934, impacting FOXP1 (forkhead box P1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['FOXP1-related_disorder', 'Intellectual_disability-severe_speech_delay-mild_dysmorphism_syndrome'] | ACCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGCATCCAATAAAGAGCTATGCAATTTGACTTGTTTTTACAGCAAATAGTATTATAATGAATATAATGAAGTTCGAAATCTACTTTTCTTCCTTAGTATATCTATGAGGGACAATCTCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACAGGGCTCACTGCAGCCTCAACCTCCTTGCCTCAAGCAATCGTCCCACCTCTGCCTCTGGAGTAGCTGTTGACCACAGGTGCATGCCACC... | ACCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGCATCCAATAAAGAGCTATGCAATTTGACTTGTTTTTACAGCAAATAGTATTATAATGAATATAATGAAGTTCGAAATCTACTTTTCTTCCTTAGTATATCTATGAGGGACAATCTCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACAGGGCTCACTGCAGCCTCAACCTCCTTGCCTCAAGCAATCGTCCCACCTCTGCCTCTGGAGTAGCTGTTGACCACAGGTGCATGCCACC... | pathogenic | 71,163 |
Does the chromosome 3 mutation at position 70977934 within gene FOXP1 (forkhead box P1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability-severe_speech_delay-mild_dysmorphism_syndrome'] | ACCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGCATCCAATAAAGAGCTATGCAATTTGACTTGTTTTTACAGCAAATAGTATTATAATGAATATAATGAAGTTCGAAATCTACTTTTCTTCCTTAGTATATCTATGAGGGACAATCTCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACAGGGCTCACTGCAGCCTCAACCTCCTTGCCTCAAGCAATCGTCCCACCTCTGCCTCTGGAGTAGCTGTTGACCACAGGTGCATGCCACC... | ACCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGCATCCAATAAAGAGCTATGCAATTTGACTTGTTTTTACAGCAAATAGTATTATAATGAATATAATGAAGTTCGAAATCTACTTTTCTTCCTTAGTATATCTATGAGGGACAATCTCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACAGGGCTCACTGCAGCCTCAACCTCCTTGCCTCAAGCAATCGTCCCACCTCTGCCTCTGGAGTAGCTGTTGACCACAGGTGCATGCCACC... | pathogenic | 71,164 |
The genetic variant at chromosome 3, position 70977935, affecting gene FOXP1 (forkhead box P1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Developmental_disorder', 'Inborn_genetic_diseases', 'Intellectual_disability-severe_speech_delay-mild_dysmorphism_syndrome'] | CCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGCATCCAATAAAGAGCTATGCAATTTGACTTGTTTTTACAGCAAATAGTATTATAATGAATATAATGAAGTTCGAAATCTACTTTTCTTCCTTAGTATATCTATGAGGGACAATCTCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACAGGGCTCACTGCAGCCTCAACCTCCTTGCCTCAAGCAATCGTCCCACCTCTGCCTCTGGAGTAGCTGTTGACCACAGGTGCATGCCACCA... | CCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGCATCCAATAAAGAGCTATGCAATTTGACTTGTTTTTACAGCAAATAGTATTATAATGAATATAATGAAGTTCGAAATCTACTTTTCTTCCTTAGTATATCTATGAGGGACAATCTCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACAGGGCTCACTGCAGCCTCAACCTCCTTGCCTCAAGCAATCGTCCCACCTCTGCCTCTGGAGTAGCTGTTGACCACAGGTGCATGCCACCA... | pathogenic | 71,165 |
For chromosome 3, position 70978000, gene FOXP1 (forkhead box P1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Intellectual_disability-severe_speech_delay-mild_dysmorphism_syndrome'] | CAATTTGACTTGTTTTTACAGCAAATAGTATTATAATGAATATAATGAAGTTCGAAATCTACTTTTCTTCCTTAGTATATCTATGAGGGACAATCTCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACAGGGCTCACTGCAGCCTCAACCTCCTTGCCTCAAGCAATCGTCCCACCTCTGCCTCTGGAGTAGCTGTTGACCACAGGTGCATGCCACCATGCCTGGCTAATTCATTGAATTTTTTTTGTAGAGACAGGGTCTCGCTACGTTGCCCAGGCTGGTC... | CAATTTGACTTGTTTTTACAGCAAATAGTATTATAATGAATATAATGAAGTTCGAAATCTACTTTTCTTCCTTAGTATATCTATGAGGGACAATCTCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACAGGGCTCACTGCAGCCTCAACCTCCTTGCCTCAAGCAATCGTCCCACCTCTGCCTCTGGAGTAGCTGTTGACCACAGGTGCATGCCACCATGCCTGGCTAATTCATTGAATTTTTTTTGTAGAGACAGGGTCTCGCTACGTTGCCCAGGCTGGTC... | pathogenic | 71,169 |
Determine if the mutation at chromosome 3, position 70987981 in gene FOXP1 (forkhead box P1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | AATTCAAAAGCTATTAATTTTTCAGTCAAAAATATTCGTGCCGATTTCTTCTAATAAAGAAATACTGTGCTGAGCTACTAAGAGATAATGTTGACTAGTGGTAGAGAATTTTCAATAGAGCAGTTAAAAATAAATTTAGTAGGAGGTCCCCTTCAAAGTTACAATTTTCTAGAAAGTAAAACATTTTTTTTTAATACTAATCAAGACAAACCTTCCATCCCTGTTCACTTCCCCCCATGCTTTTCCCTGTTTACCAGCTGCTTAACACTGGTCCACGTGAAGAATCCCAATGGTCCTTTTGTGGCCCACAGGGGCTTACA... | AATTCAAAAGCTATTAATTTTTCAGTCAAAAATATTCGTGCCGATTTCTTCTAATAAAGAAATACTGTGCTGAGCTACTAAGAGATAATGTTGACTAGTGGTAGAGAATTTTCAATAGAGCAGTTAAAAATAAATTTAGTAGGAGGTCCCCTTCAAAGTTACAATTTTCTAGAAAGTAAAACATTTTTTTTTAATACTAATCAAGACAAACCTTCCATCCCTGTTCACTTCCCCCCATGCTTTTCCCTGTTTACCAGCTGCTTAACACTGGTCCACGTGAAGAATCCCAATGGTCCTTTTGTGGCCCACAGGGGCTTACA... | benign | 71,173 |
Classify the chromosome 3 variant at position 71041351 affecting gene FOXP1 (forkhead box P1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Intellectual_disability-severe_speech_delay-mild_dysmorphism_syndrome'] | TGCAGACAAATAAGGACCATAAAAAAAAATTCAAACAAACTTAGTCTCCCAGAATTAGACTGTCTCTCAGATCCACTTACTTTCAAATGTGCCTTAAGACATGAAAAGGGCTATTCTTCTCCCACTTGCCTCCTTGCTAATCTATCACCTGACTGCAGATACATAACCTTTTAGAAAATGAAACTGAGCACAGCGCATCTAAACAAGAAGAGTTTTCTATGTCACAGGAAATCTGTGCAGGCTCCACAACAGCCGATGAGATTGCCACAAATACCTTAAGTGCATCAGTCGGCGTTTTTCAGTGTATGGCCTCCTGCTCT... | TGCAGACAAATAAGGACCATAAAAAAAAATTCAAACAAACTTAGTCTCCCAGAATTAGACTGTCTCTCAGATCCACTTACTTTCAAATGTGCCTTAAGACATGAAAAGGGCTATTCTTCTCCCACTTGCCTCCTTGCTAATCTATCACCTGACTGCAGATACATAACCTTTTAGAAAATGAAACTGAGCACAGCGCATCTAAACAAGAAGAGTTTTCTATGTCACAGGAAATCTGTGCAGGCTCCACAACAGCCGATGAGATTGCCACAAATACCTTAAGTGCATCAGTCGGCGTTTTTCAGTGTATGGCCTCCTGCTCT... | pathogenic | 71,181 |
Evaluate this variant at chromosome 3, position 71781525, gene PROK2 (prokineticin 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hypogonadotropic_hypogonadism_4_with_or_without_anosmia', 'Inborn_genetic_diseases', 'Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation', 'PROK2-related_disorder'] | AATTATGATTGTTATTAACACAAACATAGTTCCATGGGATATGTCACTTTTCCCTTGTTTCAGTAAACAGGCTATGTGATTCTAGCATCTAGGGCATGTGAAGCTGTACTAATACTGCATGAAAACAACACAATTTTTCTTTTTCCAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGTGGCAAGATCACGCTCACTGCAGCCTGAAACTCCTGGATTCTACTGATCCCCTCCCCCACCTCAGCCTTCCTGGTAATTAGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTAAAAATTTTTCTATAGAG... | AATTATGATTGTTATTAACACAAACATAGTTCCATGGGATATGTCACTTTTCCCTTGTTTCAGTAAACAGGCTATGTGATTCTAGCATCTAGGGCATGTGAAGCTGTACTAATACTGCATGAAAACAACACAATTTTTCTTTTTCCAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGTGGCAAGATCACGCTCACTGCAGCCTGAAACTCCTGGATTCTACTGATCCCCTCCCCCACCTCAGCCTTCCTGGTAATTAGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTAAAAATTTTTCTATAGAG... | pathogenic | 71,221 |
Considering the variant on chromosome 3, location 77617785, involving gene ROBO2 (roundabout guidance receptor 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CTGGGAGACATGTTGGTTGCTTCCAAATTTTGGCAAGTATGAATAACACCAATAAAAATATACACGTTCAAGTTTTATGATAAATTCAGCTTTTAAACAAAATAAATGGAAAGGCATTCAAGTGAAAATATTCAAGAATCATCCGGACATTTATAAGTTACTCTTTGTAAGAGAGATCAAGACTAGAGATGTACATTTCTGATATTTACTCATATCACAGTTTCCCTAATGAATATCTCCCATGTACCAGAAACTGTATGAGGTGCAAGAAGTAGATAAGAATGACAGCTTTCTTGAATTTAAGAATCTCACAAAATAGT... | CTGGGAGACATGTTGGTTGCTTCCAAATTTTGGCAAGTATGAATAACACCAATAAAAATATACACGTTCAAGTTTTATGATAAATTCAGCTTTTAAACAAAATAAATGGAAAGGCATTCAAGTGAAAATATTCAAGAATCATCCGGACATTTATAAGTTACTCTTTGTAAGAGAGATCAAGACTAGAGATGTACATTTCTGATATTTACTCATATCACAGTTTCCCTAATGAATATCTCCCATGTACCAGAAACTGTATGAGGTGCAAGAAGTAGATAAGAATGACAGCTTTCTTGAATTTAAGAATCTCACAAAATAGT... | benign | 71,290 |
Classify the chromosome 3 variant at position 78639851 affecting gene ROBO1 (roundabout guidance receptor 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Pituitary_stalk_interruption_syndrome'] | CTTTAAGGGCAGACATGCAGACTGCTCTATGATTTGTTCTTTATAGTGCATAGCATCTTTACTTAAATCCAACTTCTCTCTCGCCTTTCCGTAATTCCACAGGTTATTTTACTTCTATCATCATAGAGATTCCATACAATAATTTTAATATTTCCTATATTGGCAATATTGGGTTTTTTTTTGGGGGGGGGAGGGGTTGTTTGGTAAGAAATCTTTGGTAATTTTTATTCCTTTAAATCTTGCAGACTGTACATCTGATTTTTTACTATTATGTTTTGGCATGAAATTTTAGCAAGATAATTTACTCACACATACATCTG... | CTTTAAGGGCAGACATGCAGACTGCTCTATGATTTGTTCTTTATAGTGCATAGCATCTTTACTTAAATCCAACTTCTCTCTCGCCTTTCCGTAATTCCACAGGTTATTTTACTTCTATCATCATAGAGATTCCATACAATAATTTTAATATTTCCTATATTGGCAATATTGGGTTTTTTTTTGGGGGGGGGAGGGGTTGTTTGGTAAGAAATCTTTGGTAATTTTTATTCCTTTAAATCTTGCAGACTGTACATCTGATTTTTTACTATTATGTTTTGGCATGAAATTTTAGCAAGATAATTTACTCACACATACATCTG... | pathogenic | 71,328 |
Is the chromosome 3, position 81493813 variant in GBE1 (1,4-alpha-glucan branching enzyme 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['GBE1-related_disorder', 'Glycogen_storage_disease,_type_IV'] | TGCAAAGCAAACATGACTTTAGGAAAAAACTCAAACAAATAGAACAGTTGATTTTCACTGAATGAGACTTGTATGTCCAATGCATCTCAACTCTACAAATGTTTTCTCTTAAGGTTCCACAATAAAGAACCCATACTACTCTTAAAAAAATCAGACATATTGATACAGCTGGTTAGTTTTTAACATCAAAAGTTAAAGCAGTTTTAAAATGGTGGCACTTATATTCTGGATTTAATGGCTAGAGAATAGTTTTTCTAATCTTCAATTCAAAGTAATAGTGATTTAGGAAATGAAAGTCATCTGCAAAAGATTAACAAATG... | TGCAAAGCAAACATGACTTTAGGAAAAAACTCAAACAAATAGAACAGTTGATTTTCACTGAATGAGACTTGTATGTCCAATGCATCTCAACTCTACAAATGTTTTCTCTTAAGGTTCCACAATAAAGAACCCATACTACTCTTAAAAAAATCAGACATATTGATACAGCTGGTTAGTTTTTAACATCAAAAGTTAAAGCAGTTTTAAAATGGTGGCACTTATATTCTGGATTTAATGGCTAGAGAATAGTTTTTCTAATCTTCAATTCAAAGTAATAGTGATTTAGGAAATGAAAGTCATCTGCAAAAGATTAACAAATG... | pathogenic | 71,353 |
Variant in gene GBE1 (1,4-alpha-glucan branching enzyme 1), located at chromosome 3 position 81493813: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Adult_polyglucosan_body_disease', 'Adult_polyglucosan_body_neuropathy'] | TGCAAAGCAAACATGACTTTAGGAAAAAACTCAAACAAATAGAACAGTTGATTTTCACTGAATGAGACTTGTATGTCCAATGCATCTCAACTCTACAAATGTTTTCTCTTAAGGTTCCACAATAAAGAACCCATACTACTCTTAAAAAAATCAGACATATTGATACAGCTGGTTAGTTTTTAACATCAAAAGTTAAAGCAGTTTTAAAATGGTGGCACTTATATTCTGGATTTAATGGCTAGAGAATAGTTTTTCTAATCTTCAATTCAAAGTAATAGTGATTTAGGAAATGAAAGTCATCTGCAAAAGATTAACAAATG... | TGCAAAGCAAACATGACTTTAGGAAAAAACTCAAACAAATAGAACAGTTGATTTTCACTGAATGAGACTTGTATGTCCAATGCATCTCAACTCTACAAATGTTTTCTCTTAAGGTTCCACAATAAAGAACCCATACTACTCTTAAAAAAATCAGACATATTGATACAGCTGGTTAGTTTTTAACATCAAAAGTTAAAGCAGTTTTAAAATGGTGGCACTTATATTCTGGATTTAATGGCTAGAGAATAGTTTTTCTAATCTTCAATTCAAAGTAATAGTGATTTAGGAAATGAAAGTCATCTGCAAAAGATTAACAAATG... | pathogenic | 71,354 |
Variant chromosome 3, position 81535304, gene GBE1 (1,4-alpha-glucan branching enzyme 1): benign or pathogenic? Disease(s)? | pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic'] | TTTGTTTGGATTTCCTCATGGAAATGAAGAGGACATTTGTTTCCCAGAATAGTACTGTACTTCTTTAGTGTAGATAACCCATCACATTGATTTATCTGTAGGCATAAAGAGACAGACAACACAGCGCATTCTGTGGGTTAACTGGAGCACATTTGTGCTATCAGTCACAACTACAGCCTCCTCTCCTAGATGCTCTGATGTTATGTGGAACAGTGATTGGCTGGGTGGGAAGAAAGTAGGGAACCATCTCTCTTTGCCCTCAATGTCACTGAGCAGCATGGGGTGGTGACAGATGCTGCAGGCTACTTACTAAAAAGCAC... | TTTGTTTGGATTTCCTCATGGAAATGAAGAGGACATTTGTTTCCCAGAATAGTACTGTACTTCTTTAGTGTAGATAACCCATCACATTGATTTATCTGTAGGCATAAAGAGACAGACAACACAGCGCATTCTGTGGGTTAACTGGAGCACATTTGTGCTATCAGTCACAACTACAGCCTCCTCTCCTAGATGCTCTGATGTTATGTGGAACAGTGATTGGCTGGGTGGGAAGAAAGTAGGGAACCATCTCTCTTTGCCCTCAATGTCACTGAGCAGCATGGGGTGGTGACAGATGCTGCAGGCTACTTACTAAAAAGCAC... | pathogenic | 71,365 |
Clinically, how would you classify the variant at chromosome 3, position 81536902, gene GBE1 (1,4-alpha-glucan branching enzyme 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic'] | TTCATTTATTGTCTTCTGTATTGGTGGATGTGGGGACCTGGAGAGCAGGGCTCCATAGTGAAACCTTCAGGACAGCAAGATCCACAGCTCTTTCCTTTGATGTGAACCACGTCTGCACTAACCCCTCTGTTTAAACCCAAAATGAAGCTTAGGAATAATTCAGTATAACTGAGTCGAGCAAAGATTTATCCATCAACTATTTTAAGTTCCTCATTTTTCAGATGAGGAAAATGAATGTTTCTGTCATCAAGATCAACCTTAGTCTTTTTTTTTTTTTTGTCCTATAATGTAATAAAGAAGTGAATGTGGACAGTCATATT... | TTCATTTATTGTCTTCTGTATTGGTGGATGTGGGGACCTGGAGAGCAGGGCTCCATAGTGAAACCTTCAGGACAGCAAGATCCACAGCTCTTTCCTTTGATGTGAACCACGTCTGCACTAACCCCTCTGTTTAAACCCAAAATGAAGCTTAGGAATAATTCAGTATAACTGAGTCGAGCAAAGATTTATCCATCAACTATTTTAAGTTCCTCATTTTTCAGATGAGGAAAATGAATGTTTCTGTCATCAAGATCAACCTTAGTCTTTTTTTTTTTTTTGTCCTATAATGTAATAAAGAAGTGAATGTGGACAGTCATATT... | pathogenic | 71,367 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 81537037, gene GBE1 (1,4-alpha-glucan branching enzyme 1): what disease(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic'] | CCCAAAATGAAGCTTAGGAATAATTCAGTATAACTGAGTCGAGCAAAGATTTATCCATCAACTATTTTAAGTTCCTCATTTTTCAGATGAGGAAAATGAATGTTTCTGTCATCAAGATCAACCTTAGTCTTTTTTTTTTTTTTGTCCTATAATGTAATAAAGAAGTGAATGTGGACAGTCATATTCACTGGTAACAAAAAGGATATTTCCCTGGCAATGCTGTTCCAACTCGGTAGTCAGTGTAGCTCTTGCTTGGATGGAAGTTGAAAATGAAAAGAAGACCTGCTCTTTCAAAAGCAATGATCTTATTGCCTTCATGT... | CCCAAAATGAAGCTTAGGAATAATTCAGTATAACTGAGTCGAGCAAAGATTTATCCATCAACTATTTTAAGTTCCTCATTTTTCAGATGAGGAAAATGAATGTTTCTGTCATCAAGATCAACCTTAGTCTTTTTTTTTTTTTTGTCCTATAATGTAATAAAGAAGTGAATGTGGACAGTCATATTCACTGGTAACAAAAAGGATATTTCCCTGGCAATGCTGTTCCAACTCGGTAGTCAGTGTAGCTCTTGCTTGGATGGAAGTTGAAAATGAAAAGAAGACCTGCTCTTTCAAAAGCAATGATCTTATTGCCTTCATGT... | pathogenic | 71,372 |
For chromosome 3, position 81578074, gene GBE1 (1,4-alpha-glucan branching enzyme 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic'] | AAAAGCCTTAATCATTCTTTGTTCACATTCAATAATGTTTTAAGGTGTACGTCAACCTAGAATTATTTTTCAGTCAGTAATAGCACAAAGTGAGGTATTTTCTCTCTGAGTATTCATGGCAGCTTAAAAAATTGAAATTTAACCTAATAAACATTTTATTACATTGTATGATGAAGGTAATGCATTAGGCAATGTATCATACTTACTTATTATACATGATAACTATAATAATCATAGTTATCAAATAGAAAAATATTTTATCCTAAATTTAGGATATGACCATCCTGTTTTAGATTGTAAATTCTCTGAAAGCAGTTATC... | AAAAGCCTTAATCATTCTTTGTTCACATTCAATAATGTTTTAAGGTGTACGTCAACCTAGAATTATTTTTCAGTCAGTAATAGCACAAAGTGAGGTATTTTCTCTCTGAGTATTCATGGCAGCTTAAAAAATTGAAATTTAACCTAATAAACATTTTATTACATTGTATGATGAAGGTAATGCATTAGGCAATGTATCATACTTACTTATTATACATGATAACTATAATAATCATAGTTATCAAATAGAAAAATATTTTATCCTAAATTTAGGATATGACCATCCTGTTTTAGATTGTAAATTCTCTGAAAGCAGTTATC... | pathogenic | 71,385 |
Benign or pathogenic: chromosome 3, position 81581207, gene GBE1 (1,4-alpha-glucan branching enzyme 1) variant? Disease(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic'] | ATACTGGTGAAATTAAGTTAAGTTTACAAATTTAATTGTTAAGGATTTATCTAAAAAGTTTAAAATAACATCCACATTTTTACTATAAATTATATGTTTATTTATTCATTTTTATGTATTCATATACATTTATATTTTTTATCAGGCTTAAGAATCAAAGTACATTTGCTTTTAGAAAGAACTAGGCAACTTGCATTATTTCTGCTATCCTGAGAATTCCTGAATATATAAGATAGGATTGCCTGAATTTTTAAAGTATGAAATAATTCTTGGTAAATCTTTTTCTTTACAGATTAGGTAGAAATTTACGTAAGAAATCT... | ATACTGGTGAAATTAAGTTAAGTTTACAAATTTAATTGTTAAGGATTTATCTAAAAAGTTTAAAATAACATCCACATTTTTACTATAAATTATATGTTTATTTATTCATTTTTATGTATTCATATACATTTATATTTTTTATCAGGCTTAAGAATCAAAGTACATTTGCTTTTAGAAAGAACTAGGCAACTTGCATTATTTCTGCTATCCTGAGAATTCCTGAATATATAAGATAGGATTGCCTGAATTTTTAAAGTATGAAATAATTCTTGGTAAATCTTTTTCTTTACAGATTAGGTAGAAATTTACGTAAGAAATCT... | pathogenic | 71,389 |
A genetic variant on chromosome 3, position 81586168, affects the gene GBE1 (1,4-alpha-glucan branching enzyme 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic'] | TAAAATGAAAGGAAATACAGCAAATTTGGCATAATTTAGATAGTCAAATATTTGTTCAGTAATTGATTAAACTAAGAATGATATTCAAAACTAATGATATTGAAATAATACAACTAGGAAATGATACATAATTTGCTTTTGAACAACAAAAACATGAATAAAATCTAGCATTCTAATTTAACTCATACTGTATGGGTAGACAACATCACAGGCCATATACATTCTGAGTACAGTTGTCATCTGATTTAATAACTCTTGTGTGTTTTATTGACATATAGGGAGAATGGGAGCCACTTATTGAATTGTTTTTAAATGCACCA... | TAAAATGAAAGGAAATACAGCAAATTTGGCATAATTTAGATAGTCAAATATTTGTTCAGTAATTGATTAAACTAAGAATGATATTCAAAACTAATGATATTGAAATAATACAACTAGGAAATGATACATAATTTGCTTTTGAACAACAAAAACATGAATAAAATCTAGCATTCTAATTTAACTCATACTGTATGGGTAGACAACATCACAGGCCATATACATTCTGAGTACAGTTGTCATCTGATTTAATAACTCTTGTGTGTTTTATTGACATATAGGGAGAATGGGAGCCACTTATTGAATTGTTTTTAAATGCACCA... | pathogenic | 71,393 |
Variant chromosome 3, position 81586187, gene GBE1 (1,4-alpha-glucan branching enzyme 1): benign or pathogenic? Disease(s)? | pathogenic; ['GBE1-related_disorder', 'Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic'] | GCAAATTTGGCATAATTTAGATAGTCAAATATTTGTTCAGTAATTGATTAAACTAAGAATGATATTCAAAACTAATGATATTGAAATAATACAACTAGGAAATGATACATAATTTGCTTTTGAACAACAAAAACATGAATAAAATCTAGCATTCTAATTTAACTCATACTGTATGGGTAGACAACATCACAGGCCATATACATTCTGAGTACAGTTGTCATCTGATTTAATAACTCTTGTGTGTTTTATTGACATATAGGGAGAATGGGAGCCACTTATTGAATTGTTTTTAAATGCACCAGTTACAAAAGTAGAGGAAA... | GCAAATTTGGCATAATTTAGATAGTCAAATATTTGTTCAGTAATTGATTAAACTAAGAATGATATTCAAAACTAATGATATTGAAATAATACAACTAGGAAATGATACATAATTTGCTTTTGAACAACAAAAACATGAATAAAATCTAGCATTCTAATTTAACTCATACTGTATGGGTAGACAACATCACAGGCCATATACATTCTGAGTACAGTTGTCATCTGATTTAATAACTCTTGTGTGTTTTATTGACATATAGGGAGAATGGGAGCCACTTATTGAATTGTTTTTAAATGCACCAGTTACAAAAGTAGAGGAAA... | pathogenic | 71,395 |
Variant on chromosome 3, at position 81593962, affecting GBE1 (1,4-alpha-glucan branching enzyme 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic'] | TCTTATACTTCAAGTTCTTTCATGTTTATATTTCAGCAGCAATATAACTACCAAGTTTCTCATTTTTGATGCTGTCGTTCTTTAATTTTAAAATATTTAATTGACAAATAAAAATTGCATATATTCAAGGTTTCCAAGGTACTGATTTGATATTGGCATACATTGTGTACTGATTACTATACTCAAATTGACACAACTGTCACCACCCATAGTTACCACATGTGTATGTGTGTGTGCGCGCGTGTGTGTGTGTTTAGGATACTTAAAGTTGGCTCTCATCAAATACCAAGTAATATTATTAACTATAGTTACATTAGATT... | TCTTATACTTCAAGTTCTTTCATGTTTATATTTCAGCAGCAATATAACTACCAAGTTTCTCATTTTTGATGCTGTCGTTCTTTAATTTTAAAATATTTAATTGACAAATAAAAATTGCATATATTCAAGGTTTCCAAGGTACTGATTTGATATTGGCATACATTGTGTACTGATTACTATACTCAAATTGACACAACTGTCACCACCCATAGTTACCACATGTGTATGTGTGTGTGCGCGCGTGTGTGTGTGTTTAGGATACTTAAAGTTGGCTCTCATCAAATACCAAGTAATATTATTAACTATAGTTACATTAGATT... | pathogenic | 71,399 |
Clinical significance of chromosome 3, position 81642860, gene GBE1 (1,4-alpha-glucan branching enzyme 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic'] | GACAGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTAAAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAATAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTTTGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATCCCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTACAACAAGGTACACTACAATAAACATGTGAATAAAATAAAAATGTTGTATAACATAAAAATCCATCCACTTAATG... | GACAGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTAAAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAATAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTTTGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATCCCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTACAACAAGGTACACTACAATAAACATGTGAATAAAATAAAAATGTTGTATAACATAAAAATCCATCCACTTAATG... | pathogenic | 71,409 |
Clinical classification of chromosome 3, position 81649781, gene GBE1 (1,4-alpha-glucan branching enzyme 1): benign or pathogenic? Disease(s) if pathogenic? | benign | ACAACTATATTTGTAAATACACTTATAAACAAAGATATTAGTTTCATTCTTCTTGGCTGATACCTTGTATCAAGCACAAATTTATAGTTTTATTCTTAATTTTTATGGCATTAATCATTCCTGGATTCACTTTCATTCCAGGTACTAGGCTAGACAATTCAAACACAAAGATGAGTAAGAGAATCCTTGTGCTGCTGAACGTTCTGCAAGAACTGGGTCATAAGCAATTTATTACTCCATAATATGAAAGAATATCTCAAATATAATAATTTAGCATAATATCTATTAATTATAATTAATACTAAATACTCTATACATTT... | ACAACTATATTTGTAAATACACTTATAAACAAAGATATTAGTTTCATTCTTCTTGGCTGATACCTTGTATCAAGCACAAATTTATAGTTTTATTCTTAATTTTTATGGCATTAATCATTCCTGGATTCACTTTCATTCCAGGTACTAGGCTAGACAATTCAAACACAAAGATGAGTAAGAGAATCCTTGTGCTGCTGAACGTTCTGCAAGAACTGGGTCATAAGCAATTTATTACTCCATAATATGAAAGAATATCTCAAATATAATAATTTAGCATAATATCTATTAATTATAATTAATACTAAATACTCTATACATTT... | benign | 71,426 |
Assess the variant on chromosome 3, position 81649845, impacting GBE1 (1,4-alpha-glucan branching enzyme 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['GBE1-related_disorder', 'Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic'] | TTGTATCAAGCACAAATTTATAGTTTTATTCTTAATTTTTATGGCATTAATCATTCCTGGATTCACTTTCATTCCAGGTACTAGGCTAGACAATTCAAACACAAAGATGAGTAAGAGAATCCTTGTGCTGCTGAACGTTCTGCAAGAACTGGGTCATAAGCAATTTATTACTCCATAATATGAAAGAATATCTCAAATATAATAATTTAGCATAATATCTATTAATTATAATTAATACTAAATACTCTATACATTTAATTAATTTTGGTTTCTGGAACCTGACTTTACCATCACAGATAATCCATACATAACTGAAAACT... | TTGTATCAAGCACAAATTTATAGTTTTATTCTTAATTTTTATGGCATTAATCATTCCTGGATTCACTTTCATTCCAGGTACTAGGCTAGACAATTCAAACACAAAGATGAGTAAGAGAATCCTTGTGCTGCTGAACGTTCTGCAAGAACTGGGTCATAAGCAATTTATTACTCCATAATATGAAAGAATATCTCAAATATAATAATTTAGCATAATATCTATTAATTATAATTAATACTAAATACTCTATACATTTAATTAATTTTGGTTTCTGGAACCTGACTTTACCATCACAGATAATCCATACATAACTGAAAACT... | pathogenic | 71,427 |
Assess the variant on chromosome 3, position 81649880, impacting GBE1 (1,4-alpha-glucan branching enzyme 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Adult_polyglucosan_body_disease', 'Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic'] | TTTTTATGGCATTAATCATTCCTGGATTCACTTTCATTCCAGGTACTAGGCTAGACAATTCAAACACAAAGATGAGTAAGAGAATCCTTGTGCTGCTGAACGTTCTGCAAGAACTGGGTCATAAGCAATTTATTACTCCATAATATGAAAGAATATCTCAAATATAATAATTTAGCATAATATCTATTAATTATAATTAATACTAAATACTCTATACATTTAATTAATTTTGGTTTCTGGAACCTGACTTTACCATCACAGATAATCCATACATAACTGAAAACTTTAACCATGCCTTACAAACCTTTCTTCTAGCCAAA... | TTTTTATGGCATTAATCATTCCTGGATTCACTTTCATTCCAGGTACTAGGCTAGACAATTCAAACACAAAGATGAGTAAGAGAATCCTTGTGCTGCTGAACGTTCTGCAAGAACTGGGTCATAAGCAATTTATTACTCCATAATATGAAAGAATATCTCAAATATAATAATTTAGCATAATATCTATTAATTATAATTAATACTAAATACTCTATACATTTAATTAATTTTGGTTTCTGGAACCTGACTTTACCATCACAGATAATCCATACATAACTGAAAACTTTAACCATGCCTTACAAACCTTTCTTCTAGCCAAA... | pathogenic | 71,429 |
Variant in GBE1 (1,4-alpha-glucan branching enzyme 1), chromosome 3, position 81670963—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TTAAAAATAACTCATTTATTAGATTATTTCCTTAAAGGCAGTAATTTTTAAAATTCTGATTCCCTATGCATATTACAGTACCAGGTACACAGAAGATACTCAACACATATTTGTTGAACTAGTGAAAATATGAATAAATAGAACTCGGCAGCTAAAAATCAACCTTATGAGGTGATAGACTGTAGTGTAACCCTGCAACCAAAGCTCCACTATGATTGGGAACTTTCCTCGGCTTCAACTAGAACATTTGAGGGTCACAGAATCAAGGAATTCAGAGATTTCACAGCTGCAGCTGGTGCCAAGGAGCTGTTTGCTATTTA... | TTAAAAATAACTCATTTATTAGATTATTTCCTTAAAGGCAGTAATTTTTAAAATTCTGATTCCCTATGCATATTACAGTACCAGGTACACAGAAGATACTCAACACATATTTGTTGAACTAGTGAAAATATGAATAAATAGAACTCGGCAGCTAAAAATCAACCTTATGAGGTGATAGACTGTAGTGTAACCCTGCAACCAAAGCTCCACTATGATTGGGAACTTTCCTCGGCTTCAACTAGAACATTTGAGGGTCACAGAATCAAGGAATTCAGAGATTTCACAGCTGCAGCTGGTGCCAAGGAGCTGTTTGCTATTTA... | benign | 71,439 |
Assess the variant on chromosome 3, position 81705468, impacting GBE1 (1,4-alpha-glucan branching enzyme 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Adult_polyglucosan_body_disease', 'Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic'] | AATTATTTTCAGTCCTTAGACCTGTACTTTCCAGTAAAGAAGCCAGTAGCTACAAGAGGCGATAGAGCACTTGAACTGAGGCTAGTGCAACTTAGAAACTGAATTTTATATTTTATTTTATCTTAAGTTATTAATTTAAATTTTAAAAGTGTTATTCAAGTCAGTTACTGGAAACCTCTTAATTTTGTTTGGAAAAAACTGGGTATATGAACATACTTTTAAACTGAAAATTTTATTAAACTTAAATTTAAATTAAGTGCAGTCTGCCCTCAAGTTGCACATCTACTGATTCAACCAATCTTAGATTGAAAATATTTGGA... | AATTATTTTCAGTCCTTAGACCTGTACTTTCCAGTAAAGAAGCCAGTAGCTACAAGAGGCGATAGAGCACTTGAACTGAGGCTAGTGCAACTTAGAAACTGAATTTTATATTTTATTTTATCTTAAGTTATTAATTTAAATTTTAAAAGTGTTATTCAAGTCAGTTACTGGAAACCTCTTAATTTTGTTTGGAAAAAACTGGGTATATGAACATACTTTTAAACTGAAAATTTTATTAAACTTAAATTTAAATTAAGTGCAGTCTGCCCTCAAGTTGCACATCTACTGATTCAACCAATCTTAGATTGAAAATATTTGGA... | pathogenic | 71,442 |
Chromosome 3, position 81705540, gene GBE1 (1,4-alpha-glucan branching enzyme 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['GBE1-related_disorder', 'Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic'] | GAACTGAGGCTAGTGCAACTTAGAAACTGAATTTTATATTTTATTTTATCTTAAGTTATTAATTTAAATTTTAAAAGTGTTATTCAAGTCAGTTACTGGAAACCTCTTAATTTTGTTTGGAAAAAACTGGGTATATGAACATACTTTTAAACTGAAAATTTTATTAAACTTAAATTTAAATTAAGTGCAGTCTGCCCTCAAGTTGCACATCTACTGATTCAACCAATCTTAGATTGAAAATATTTGGAAAAGAAAAGTGGATGGTTGCATCTGTACTGAACACTTAAACAGTCTATTTTTTCTGGTCATTATTCCATAAA... | GAACTGAGGCTAGTGCAACTTAGAAACTGAATTTTATATTTTATTTTATCTTAAGTTATTAATTTAAATTTTAAAAGTGTTATTCAAGTCAGTTACTGGAAACCTCTTAATTTTGTTTGGAAAAAACTGGGTATATGAACATACTTTTAAACTGAAAATTTTATTAAACTTAAATTTAAATTAAGTGCAGTCTGCCCTCAAGTTGCACATCTACTGATTCAACCAATCTTAGATTGAAAATATTTGGAAAAGAAAAGTGGATGGTTGCATCTGTACTGAACACTTAAACAGTCTATTTTTTCTGGTCATTATTCCATAAA... | pathogenic | 71,443 |
Variant in gene GBE1 (1,4-alpha-glucan branching enzyme 1), located at chromosome 3 position 81705589: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Adult_polyglucosan_body_disease', 'Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic'] | CTTAAGTTATTAATTTAAATTTTAAAAGTGTTATTCAAGTCAGTTACTGGAAACCTCTTAATTTTGTTTGGAAAAAACTGGGTATATGAACATACTTTTAAACTGAAAATTTTATTAAACTTAAATTTAAATTAAGTGCAGTCTGCCCTCAAGTTGCACATCTACTGATTCAACCAATCTTAGATTGAAAATATTTGGAAAAGAAAAGTGGATGGTTGCATCTGTACTGAACACTTAAACAGTCTATTTTTTCTGGTCATTATTCCATAAACAATACAGTATAACAAATATTTATACAGCATTTACATTGTATTGGGTAT... | CTTAAGTTATTAATTTAAATTTTAAAAGTGTTATTCAAGTCAGTTACTGGAAACCTCTTAATTTTGTTTGGAAAAAACTGGGTATATGAACATACTTTTAAACTGAAAATTTTATTAAACTTAAATTTAAATTAAGTGCAGTCTGCCCTCAAGTTGCACATCTACTGATTCAACCAATCTTAGATTGAAAATATTTGGAAAAGAAAAGTGGATGGTTGCATCTGTACTGAACACTTAAACAGTCTATTTTTTCTGGTCATTATTCCATAAACAATACAGTATAACAAATATTTATACAGCATTTACATTGTATTGGGTAT... | pathogenic | 71,445 |
Is chromosome 3, position 81761447, gene GBE1 (1,4-alpha-glucan branching enzyme 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic'] | GACTGGTTATGTATTTGTGTTAGGCCAAAGACACACAGTCCAAATGGATTATCAGAAATAAATGGAAAATTGGACAAGGAACTAAGACCAGATTGTATGAAGGAAAAATGTTTTATTCTTCAAGTGTTAACAATAGAAGTTACCACTAACAAATGCCAAATTACTATTTGATATGCCTAAATGGAACATGTATGCTAGCAAATGGCCATTACTCAGAACCAAGGACAAAAGTAAAATCCGGGTCAGAGTGAGGCATGAGGGCCCACTGGACGAGACTTTTCACCAAGCACACTGGATTCTCTTCCCTTCTTTATCTTGGC... | GACTGGTTATGTATTTGTGTTAGGCCAAAGACACACAGTCCAAATGGATTATCAGAAATAAATGGAAAATTGGACAAGGAACTAAGACCAGATTGTATGAAGGAAAAATGTTTTATTCTTCAAGTGTTAACAATAGAAGTTACCACTAACAAATGCCAAATTACTATTTGATATGCCTAAATGGAACATGTATGCTAGCAAATGGCCATTACTCAGAACCAAGGACAAAAGTAAAATCCGGGTCAGAGTGAGGCATGAGGGCCCACTGGACGAGACTTTTCACCAAGCACACTGGATTCTCTTCCCTTCTTTATCTTGGC... | pathogenic | 71,453 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.