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 |
|---|---|---|---|---|---|
For chromosome 17, position 61861444, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | ATCACAGCTCTCTGCAACCTCGACCTCCTGGGCTCAAGCGATCCTACCACCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTG... | ATCACAGCTCTCTGCAACCTCGACCTCCTGGGCTCAAGCGATCCTACCACCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTG... | pathogenic | 281,487 |
Is the chromosome 17, position 61861461 variant in BRIP1 (BRCA1 interacting DNA helicase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | CCTCGACCTCCTGGGCTCAAGCGATCCTACCACCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAG... | CCTCGACCTCCTGGGCTCAAGCGATCCTACCACCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAG... | pathogenic | 281,491 |
Does the genetic variant at chromosome 17, position 61861468, impacting gene BRIP1 (BRCA1 interacting DNA helicase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CTCCTGGGCTCAAGCGATCCTACCACCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAGAATACTG... | CTCCTGGGCTCAAGCGATCCTACCACCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAGAATACTG... | pathogenic | 281,494 |
Variant at chromosome position 61861471, chromosome 17, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CTGGGCTCAAGCGATCCTACCACCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAGAATACTGTAT... | CTGGGCTCAAGCGATCCTACCACCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAGAATACTGTAT... | pathogenic | 281,495 |
A genetic variant on chromosome 17, position 61861484, affects the gene BRIP1 (BRCA1 interacting DNA helicase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | ATCCTACCACCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAGAATACTGTATTATATTTTCTCAG... | ATCCTACCACCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAGAATACTGTATTATATTTTCTCAG... | pathogenic | 281,501 |
Variant in gene BRIP1 (BRCA1 interacting DNA helicase 1), located at chromosome 17 position 61861484: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | ATCCTACCACCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAGAATACTGTATTATATTTTCTCAG... | ATCCTACCACCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAGAATACTGTATTATATTTTCTCAG... | pathogenic | 281,502 |
The chromosome 17, position 61861486 genetic variant in gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTACCACCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAGAATACTGTATTATATTTTCTCAGAT... | CCTACCACCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAGAATACTGTATTATATTTTCTCAGAT... | pathogenic | 281,503 |
Classify the chromosome 17 variant at position 61861493 affecting gene BRIP1 (BRCA1 interacting DNA helicase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['BRIP1-associated_familial_cancer_predisposition', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAGAATACTGTATTATATTTTCTCAGATCCCAGTA... | CCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAGAATACTGTATTATATTTTCTCAGATCCCAGTA... | pathogenic | 281,506 |
Clinically, how would you classify the variant at chromosome 17, position 61861502, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_breast_ovarian_cancer_syndrome'] | CCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAGAATACTGTATTATATTTTCTCAGATCCCAGTAAGTAACCTG... | CCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAGAATACTGTATTATATTTTCTCAGATCCCAGTAAGTAACCTG... | pathogenic | 281,510 |
A mutation at chromosome position 61861509 on chromosome 17 in gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | AGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAGAATACTGTATTATATTTTCTCAGATCCCAGTAAGTAACCTGAAGATAT... | AGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAGAATACTGTATTATATTTTCTCAGATCCCAGTAAGTAACCTGAAGATAT... | pathogenic | 281,513 |
Variant in gene BRIP1 (BRCA1 interacting DNA helicase 1), located at chromosome 17 position 61861528: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAGAATACTGTATTATATTTTCTCAGATCCCAGTAAGTAACCTGAAGATATCAAGCAACTACTTACCACT... | CATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGACAGCATGGCTGAACCAGTCTGGATAAAGAATACTGTATTATATTTTCTCAGATCCCAGTAAGTAACCTGAAGATATCAAGCAACTACTTACCACT... | pathogenic | 281,517 |
Assess the variant on chromosome 17, position 61955777, impacting MED13 (mediator complex subunit 13): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Intellectual_developmental_disorder_61'] | ACTAAATGTGTAGTACTTTGTTAGAGCAGCAATAGGAAACTAATACAAAGCAAACATAGTACAAACAAAATGAAAATGTGTTTAAAGTGGGACTACAGTATTCCCCCTTATCCATGGGGAATATGTCCCAAGACCCACCCCCATACCCACATAGATTCCTGAAACCAAGGATAGTACCAAATCCTATATACTGGTTTTTCCTTTACGTACACACCTATGATGGAGTTTCAATGATAAATTAGGTACAGTAAGAGATTAACAACGAGAATATTAGAACAATTATAGCAAGGTACTATAATAAAAGGTATGTGAATGTGGTC... | ACTAAATGTGTAGTACTTTGTTAGAGCAGCAATAGGAAACTAATACAAAGCAAACATAGTACAAACAAAATGAAAATGTGTTTAAAGTGGGACTACAGTATTCCCCCTTATCCATGGGGAATATGTCCCAAGACCCACCCCCATACCCACATAGATTCCTGAAACCAAGGATAGTACCAAATCCTATATACTGGTTTTTCCTTTACGTACACACCTATGATGGAGTTTCAATGATAAATTAGGTACAGTAAGAGATTAACAACGAGAATATTAGAACAATTATAGCAAGGTACTATAATAAAAGGTATGTGAATGTGGTC... | pathogenic | 281,529 |
Does the variant on chromosome 17 at location 62565007 affecting gene TLK2 (tousled like kinase 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic | AAAAACAGAAGAAAGTAAATGTCCATAAAAGTACTTGTATGAGAATATTCATGGGAATTTTATTCATAGCCAAAAAGTGGAAACATCCTAGGTGTCTGTTAACAAGTGAATGTAGATACAAATTATTATATTGTCATACAGTGGAATACTACTCAGTAATAAAAAAAGAATGAATTTCTCATAATAGAACAGCTTGCATGAATCTAAGAAACAAAAGACACAGTTCCTGCCATCAGAGGGTTAACAGTCTACATGAGGGTGGGCGAATAAGACACATTCACATATATAAGGAAACCTATTCAGATGAGCAGTGCACATAT... | AAAAACAGAAGAAAGTAAATGTCCATAAAAGTACTTGTATGAGAATATTCATGGGAATTTTATTCATAGCCAAAAAGTGGAAACATCCTAGGTGTCTGTTAACAAGTGAATGTAGATACAAATTATTATATTGTCATACAGTGGAATACTACTCAGTAATAAAAAAAGAATGAATTTCTCATAATAGAACAGCTTGCATGAATCTAAGAAACAAAAGACACAGTTCCTGCCATCAGAGGGTTAACAGTCTACATGAGGGTGGGCGAATAAGACACATTCACATATATAAGGAAACCTATTCAGATGAGCAGTGCACATAT... | pathogenic | 281,568 |
Gene TANC2 (tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2) variant at chromosome position 63267834 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Intellectual_developmental_disorder_with_autistic_features_and_language_delay,_with_or_without_seizures', 'Intellectual_disability'] | TCTTCATTGTTACACTTTCTGTTTTTTTTTTGTTTCCCTTTAAAATAAAAGCCATAATTCAAGAAAAGCATGTTGCACACTACCCAGCACATTACAGGTGTTTAATAAATACATGTTCATTCCTTTTAGTTCTTTTCACCTTAGTAATAAACTTTTAAAAAGATTATTCCTTCTTCTTTTTGATATAAGCAGAAGAATCATCTGTACCATCAAGAGAAAGAGAGGGTAAGAGGTAGAGAAATAGAACCATATTGCTAATAACAAGAGTTATGCAAAGTTGAAATATGGTGTATCAAGAGATAGTGACATGTTCAGGCATA... | TCTTCATTGTTACACTTTCTGTTTTTTTTTTGTTTCCCTTTAAAATAAAAGCCATAATTCAAGAAAAGCATGTTGCACACTACCCAGCACATTACAGGTGTTTAATAAATACATGTTCATTCCTTTTAGTTCTTTTCACCTTAGTAATAAACTTTTAAAAAGATTATTCCTTCTTCTTTTTGATATAAGCAGAAGAATCATCTGTACCATCAAGAGAAAGAGAGGGTAAGAGGTAGAGAAATAGAACCATATTGCTAATAACAAGAGTTATGCAAAGTTGAAATATGGTGTATCAAGAGATAGTGACATGTTCAGGCATA... | pathogenic | 281,588 |
Is the chromosome 17, position 63477105 variant in ACE (angiotensin I converting enzyme) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Renal_tubular_dysgenesis'] | ATAGACATTGTGGAAATGCCTTGGAGTCAGACGGGAGAATGAACCAGCAGAAGCAATGCCCGCCCTCCACCCTCCTGAAGAGGGTTCTCAGGAACTCTTTGGAGGCGAGGCCAGCCTCTGGCTGAGGGCCTCTGGATACAGGTTAGGCCTCAGGCTCTTCTCCTCTCTACTCATCTCTCCTCCCTTGGCCCCTCCTTCAGAGGCTGACAGAGCCCCACTCTCATCTCTTCCCCACCCAAGCCTCTTTCCACAGAAAGACTGCTTCCTCCCAGGAGACAGCAGCTCATTTGCACACAGACACCCACAGCCCTCAAAGCCTG... | ATAGACATTGTGGAAATGCCTTGGAGTCAGACGGGAGAATGAACCAGCAGAAGCAATGCCCGCCCTCCACCCTCCTGAAGAGGGTTCTCAGGAACTCTTTGGAGGCGAGGCCAGCCTCTGGCTGAGGGCCTCTGGATACAGGTTAGGCCTCAGGCTCTTCTCCTCTCTACTCATCTCTCCTCCCTTGGCCCCTCCTTCAGAGGCTGACAGAGCCCCACTCTCATCTCTTCCCCACCCAAGCCTCTTTCCACAGAAAGACTGCTTCCTCCCAGGAGACAGCAGCTCATTTGCACACAGACACCCACAGCCCTCAAAGCCTG... | pathogenic | 281,603 |
Chromosome 17, position 63477108, gene ACE (angiotensin I converting enzyme): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hemorrhage,_intracerebral,_susceptibility_to', 'Microvascular_complications_of_diabetes,_susceptibility_to,_3', 'Renal_tubular_dysgenesis_of_genetic_origin'] | GACATTGTGGAAATGCCTTGGAGTCAGACGGGAGAATGAACCAGCAGAAGCAATGCCCGCCCTCCACCCTCCTGAAGAGGGTTCTCAGGAACTCTTTGGAGGCGAGGCCAGCCTCTGGCTGAGGGCCTCTGGATACAGGTTAGGCCTCAGGCTCTTCTCCTCTCTACTCATCTCTCCTCCCTTGGCCCCTCCTTCAGAGGCTGACAGAGCCCCACTCTCATCTCTTCCCCACCCAAGCCTCTTTCCACAGAAAGACTGCTTCCTCCCAGGAGACAGCAGCTCATTTGCACACAGACACCCACAGCCCTCAAAGCCTGGAA... | GACATTGTGGAAATGCCTTGGAGTCAGACGGGAGAATGAACCAGCAGAAGCAATGCCCGCCCTCCACCCTCCTGAAGAGGGTTCTCAGGAACTCTTTGGAGGCGAGGCCAGCCTCTGGCTGAGGGCCTCTGGATACAGGTTAGGCCTCAGGCTCTTCTCCTCTCTACTCATCTCTCCTCCCTTGGCCCCTCCTTCAGAGGCTGACAGAGCCCCACTCTCATCTCTTCCCCACCCAAGCCTCTTTCCACAGAAAGACTGCTTCCTCCCAGGAGACAGCAGCTCATTTGCACACAGACACCCACAGCCCTCAAAGCCTGGAA... | pathogenic | 281,604 |
Mutation found at chromosome 17 position 63477126, gene ACE (angiotensin I converting enzyme): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hemorrhage,_intracerebral,_susceptibility_to', 'Microvascular_complications_of_diabetes,_susceptibility_to,_3', 'Renal_tubular_dysgenesis_of_genetic_origin'] | TGGAGTCAGACGGGAGAATGAACCAGCAGAAGCAATGCCCGCCCTCCACCCTCCTGAAGAGGGTTCTCAGGAACTCTTTGGAGGCGAGGCCAGCCTCTGGCTGAGGGCCTCTGGATACAGGTTAGGCCTCAGGCTCTTCTCCTCTCTACTCATCTCTCCTCCCTTGGCCCCTCCTTCAGAGGCTGACAGAGCCCCACTCTCATCTCTTCCCCACCCAAGCCTCTTTCCACAGAAAGACTGCTTCCTCCCAGGAGACAGCAGCTCATTTGCACACAGACACCCACAGCCCTCAAAGCCTGGAAGGCCAAGCTGTTAGGACC... | TGGAGTCAGACGGGAGAATGAACCAGCAGAAGCAATGCCCGCCCTCCACCCTCCTGAAGAGGGTTCTCAGGAACTCTTTGGAGGCGAGGCCAGCCTCTGGCTGAGGGCCTCTGGATACAGGTTAGGCCTCAGGCTCTTCTCCTCTCTACTCATCTCTCCTCCCTTGGCCCCTCCTTCAGAGGCTGACAGAGCCCCACTCTCATCTCTTCCCCACCCAAGCCTCTTTCCACAGAAAGACTGCTTCCTCCCAGGAGACAGCAGCTCATTTGCACACAGACACCCACAGCCCTCAAAGCCTGGAAGGCCAAGCTGTTAGGACC... | pathogenic | 281,605 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 63477132, gene ACE (angiotensin I converting enzyme): what disease(s) if pathogenic? | benign | CAGACGGGAGAATGAACCAGCAGAAGCAATGCCCGCCCTCCACCCTCCTGAAGAGGGTTCTCAGGAACTCTTTGGAGGCGAGGCCAGCCTCTGGCTGAGGGCCTCTGGATACAGGTTAGGCCTCAGGCTCTTCTCCTCTCTACTCATCTCTCCTCCCTTGGCCCCTCCTTCAGAGGCTGACAGAGCCCCACTCTCATCTCTTCCCCACCCAAGCCTCTTTCCACAGAAAGACTGCTTCCTCCCAGGAGACAGCAGCTCATTTGCACACAGACACCCACAGCCCTCAAAGCCTGGAAGGCCAAGCTGTTAGGACCCCTGAG... | CAGACGGGAGAATGAACCAGCAGAAGCAATGCCCGCCCTCCACCCTCCTGAAGAGGGTTCTCAGGAACTCTTTGGAGGCGAGGCCAGCCTCTGGCTGAGGGCCTCTGGATACAGGTTAGGCCTCAGGCTCTTCTCCTCTCTACTCATCTCTCCTCCCTTGGCCCCTCCTTCAGAGGCTGACAGAGCCCCACTCTCATCTCTTCCCCACCCAAGCCTCTTTCCACAGAAAGACTGCTTCCTCCCAGGAGACAGCAGCTCATTTGCACACAGACACCCACAGCCCTCAAAGCCTGGAAGGCCAAGCTGTTAGGACCCCTGAG... | benign | 281,606 |
The genetic variant at chromosome 17, position 63477152, affecting gene ACE (angiotensin I converting enzyme): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['ACE-related_disorder', 'Hemorrhage,_intracerebral,_susceptibility_to', 'Microvascular_complications_of_diabetes,_susceptibility_to,_3', 'Renal_tubular_dysgenesis_of_genetic_origin'] | CAGAAGCAATGCCCGCCCTCCACCCTCCTGAAGAGGGTTCTCAGGAACTCTTTGGAGGCGAGGCCAGCCTCTGGCTGAGGGCCTCTGGATACAGGTTAGGCCTCAGGCTCTTCTCCTCTCTACTCATCTCTCCTCCCTTGGCCCCTCCTTCAGAGGCTGACAGAGCCCCACTCTCATCTCTTCCCCACCCAAGCCTCTTTCCACAGAAAGACTGCTTCCTCCCAGGAGACAGCAGCTCATTTGCACACAGACACCCACAGCCCTCAAAGCCTGGAAGGCCAAGCTGTTAGGACCCCTGAGAGCAGGGTGGCTCCTGGGAG... | CAGAAGCAATGCCCGCCCTCCACCCTCCTGAAGAGGGTTCTCAGGAACTCTTTGGAGGCGAGGCCAGCCTCTGGCTGAGGGCCTCTGGATACAGGTTAGGCCTCAGGCTCTTCTCCTCTCTACTCATCTCTCCTCCCTTGGCCCCTCCTTCAGAGGCTGACAGAGCCCCACTCTCATCTCTTCCCCACCCAAGCCTCTTTCCACAGAAAGACTGCTTCCTCCCAGGAGACAGCAGCTCATTTGCACACAGACACCCACAGCCCTCAAAGCCTGGAAGGCCAAGCTGTTAGGACCCCTGAGAGCAGGGTGGCTCCTGGGAG... | pathogenic | 281,607 |
The chromosome 17, position 63479030 genetic variant in gene ACE (angiotensin I converting enzyme): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['ACE-related_disorder', 'Hemorrhage,_intracerebral,_susceptibility_to', 'Microvascular_complications_of_diabetes,_susceptibility_to,_3', 'Renal_tubular_dysgenesis_of_genetic_origin'] | GGAGCGGAGGAGGAAGCGCGGCGGGGCGGGGGCGGGGGTGTGTCGGGTTTTATAACCCGCAGGGCGGCCGCGGCGCAGGAGAAGGGGCAGAGCCGAGCACCGCGCACCGCGTCATGGGGGCCGCCTCGGGCCGCCGGGGGCCGGGGCTGCTGCTGCCGCTGCCGCTGCTGTTGCTGCTGCCGCCGCAGCCCGCCCTGGCGTTGGACCCCGGGCTGCAGCCCGGCAACTTTTCTGCTGACGAGGCCGGGGCGCAGCTCTTCGCGCAGAGCTACAACTCCAGCGCCGAACAGGTGCTGTTCCAGAGCGTGGCCGCCAGCTGG... | GGAGCGGAGGAGGAAGCGCGGCGGGGCGGGGGCGGGGGTGTGTCGGGTTTTATAACCCGCAGGGCGGCCGCGGCGCAGGAGAAGGGGCAGAGCCGAGCACCGCGCACCGCGTCATGGGGGCCGCCTCGGGCCGCCGGGGGCCGGGGCTGCTGCTGCCGCTGCCGCTGCTGTTGCTGCTGCCGCCGCAGCCCGCCCTGGCGTTGGACCCCGGGCTGCAGCCCGGCAACTTTTCTGCTGACGAGGCCGGGGCGCAGCTCTTCGCGCAGAGCTACAACTCCAGCGCCGAACAGGTGCTGTTCCAGAGCGTGGCCGCCAGCTGG... | pathogenic | 281,618 |
Variant at chromosome position 63483159, chromosome 17, gene ACE (angiotensin I converting enzyme): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hemorrhage,_intracerebral,_susceptibility_to', 'Hereditary_angioedema_with_normal_C1Inh', 'Microvascular_complications_of_diabetes,_susceptibility_to,_3', 'Renal_tubular_dysgenesis_of_genetic_origin'] | TGGGAAAACATCTACGACATGGTGGTGCCTTTCCCAGACAAGCCCAACCTCGATGTCACCAGTACTATGCTGCAGCAGGTAAGCTCTGGGCTCAAGCCTGGGGTGGTGGGGGTCGGGGGTGGGGCGCAAAAAAAGGGAGTCACAGATGGGCACAGGGGCGGGAAGGTTTCGGGTACTGAGCAGCAGCCTGGTGTGTCTGTAGGAGCAGTGAGCTGGGGTCGGCCCCCTCAGTGAGGTGCCAGCTCCTCCCTCCAGGCTCCACAGTGGCAGGATGAGAGCAACAACGCACTTTCACTCATCTGCTGTGGGAGTGAGGGCCC... | TGGGAAAACATCTACGACATGGTGGTGCCTTTCCCAGACAAGCCCAACCTCGATGTCACCAGTACTATGCTGCAGCAGGTAAGCTCTGGGCTCAAGCCTGGGGTGGTGGGGGTCGGGGGTGGGGCGCAAAAAAAGGGAGTCACAGATGGGCACAGGGGCGGGAAGGTTTCGGGTACTGAGCAGCAGCCTGGTGTGTCTGTAGGAGCAGTGAGCTGGGGTCGGCCCCCTCAGTGAGGTGCCAGCTCCTCCCTCCAGGCTCCACAGTGGCAGGATGAGAGCAACAACGCACTTTCACTCATCTGCTGTGGGAGTGAGGGCCC... | pathogenic | 281,652 |
Regarding the variant found on chromosome 17 at position 63483481 in gene ACE (angiotensin I converting enzyme): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['ACE-related_disorder', 'Hemorrhage,_intracerebral,_susceptibility_to', 'Microvascular_complications_of_diabetes,_susceptibility_to,_3', 'Renal_tubular_dysgenesis_of_genetic_origin'] | CCTCTGGGAATGGTGGCCACAGAGCAGAGAAGCTTTCATGCACAGGGAGTTGACCCGAGATGGGGACCCCAGCCCTGTCCCCAGGCCAGCCAGAGTGGGCTCCCCCTGACCTGGCTCCACACCCCTCCTCCAGGGCTGGAACGCCACGCACATGTTCCGGGTGGCAGAGGAGTTCTTCACCTCCCTGGAGCTCTCCCCCATGCCTCCCGAGTTCTGGGAAGGGTCGATGCTGGAGAAGCCGGCCGACGGGCGGGAAGTGGTGTGCCACGCCTCGGCTTGGGACTTCTACAACAGGAAAGACTTCAGGTTCAGACATGGGA... | CCTCTGGGAATGGTGGCCACAGAGCAGAGAAGCTTTCATGCACAGGGAGTTGACCCGAGATGGGGACCCCAGCCCTGTCCCCAGGCCAGCCAGAGTGGGCTCCCCCTGACCTGGCTCCACACCCCTCCTCCAGGGCTGGAACGCCACGCACATGTTCCGGGTGGCAGAGGAGTTCTTCACCTCCCTGGAGCTCTCCCCCATGCCTCCCGAGTTCTGGGAAGGGTCGATGCTGGAGAAGCCGGCCGACGGGCGGGAAGTGGTGTGCCACGCCTCGGCTTGGGACTTCTACAACAGGAAAGACTTCAGGTTCAGACATGGGA... | pathogenic | 281,656 |
Is the genetic change at chromosome 17, position 63496812, within gene ACE (angiotensin I converting enzyme) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['ACE-related_disorder', 'Hemorrhage,_intracerebral,_susceptibility_to', 'Microvascular_complications_of_diabetes,_susceptibility_to,_3', 'Renal_tubular_dysgenesis_of_genetic_origin'] | TGGCTGGATCATGAGCTCTGCACTGTTTTGTTTTGCTTTTAAAACAAGACTGTGATTCTTTTACTATTATTGAACATTGTCTGCGATACAATTTGAATTGTACCTGGAAGCCCTTCTAGACACTAAAATGTAGGATTGGAGATCGGTTAAGGTGGGAGGCAGGGTTGCTGGGGCAAGTTACAGTCACAGGCTGGGGTCAGACAGAACTGGGTTCAAACTCCGTCTCCATTACTTTGTTTCCTTGAGAAAATTCCTCAATTTCTGTGAGCTTCCATTTCCTGACCTGTGAACCCCATTTCACAGGATGCACGATGGCTAAC... | TGGCTGGATCATGAGCTCTGCACTGTTTTGTTTTGCTTTTAAAACAAGACTGTGATTCTTTTACTATTATTGAACATTGTCTGCGATACAATTTGAATTGTACCTGGAAGCCCTTCTAGACACTAAAATGTAGGATTGGAGATCGGTTAAGGTGGGAGGCAGGGTTGCTGGGGCAAGTTACAGTCACAGGCTGGGGTCAGACAGAACTGGGTTCAAACTCCGTCTCCATTACTTTGTTTCCTTGAGAAAATTCCTCAATTTCTGTGAGCTTCCATTTCCTGACCTGTGAACCCCATTTCACAGGATGCACGATGGCTAAC... | pathogenic | 281,698 |
The genetic variant at chromosome 17, position 63601175, affecting gene TACO1 (translational activator of cytochrome c oxidase I): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Mitochondrial_complex_4_deficiency,_nuclear_type_8'] | CCACAGAGACAGAAGTAAATTGGTGATTGCCTAGGGCTGTGGGAATTGGGGGGAAATAGGGAATGATTGCTAATGGGTACAGGACTTCTTTTGGGGATGATGAAAATGTAAAATCAATTGTGCACAGCTCTGAATATTCTATAACACATTGTACACTTTGAATTGGTGATCTGTGTGATCTGTGAAATATGTCAAAACTTAATTTTTTAAAAAATGAGAACTGTGTTGGGCATAGGAAGTACAGTCCTACTCTCAGAGAATTTAGTATTACGGTAGAAACAGATATAAACATTTTGATATTTTTTTAAAAGGTAAGTGCT... | CCACAGAGACAGAAGTAAATTGGTGATTGCCTAGGGCTGTGGGAATTGGGGGGAAATAGGGAATGATTGCTAATGGGTACAGGACTTCTTTTGGGGATGATGAAAATGTAAAATCAATTGTGCACAGCTCTGAATATTCTATAACACATTGTACACTTTGAATTGGTGATCTGTGTGATCTGTGAAATATGTCAAAACTTAATTTTTTAAAAAATGAGAACTGTGTTGGGCATAGGAAGTACAGTCCTACTCTCAGAGAATTTAGTATTACGGTAGAAACAGATATAAACATTTTGATATTTTTTTAAAAGGTAAGTGCT... | pathogenic | 281,714 |
Classify the chromosome 17 variant at position 63917939 affecting gene GH1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | AGGCACTTCATGCTGCATATTTGTATTGCACGTTTCAGTGTACATCGTGTTTCACTTCCTATATCTCGTTGGACACTTCAGTTTGCCATATGATATGTCCAGGGGGTTCAGGCACGGAGGAAGGGCCTCGGAAGACCTCGGGGGGAGAGGGGCAGGCACTGCTGTGTATTGATGGGGGGATTGTTTGCACTGGTTGATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGAT... | AGGCACTTCATGCTGCATATTTGTATTGCACGTTTCAGTGTACATCGTGTTTCACTTCCTATATCTCGTTGGACACTTCAGTTTGCCATATGATATGTCCAGGGGGTTCAGGCACGGAGGAAGGGCCTCGGAAGACCTCGGGGGGAGAGGGGCAGGCACTGCTGTGTATTGATGGGGGGATTGTTTGCACTGGTTGATGATCTCTGAACAACCAAGAAGTACACAAGGATCTACCTAACTGGACGTGCTAAGTAATTTCACTTTGGGGATTATTCTCCAGGGAGACGATCCATTGATAGAGAAGTGAAAAGCATCGAGAT... | benign | 281,793 |
Mutation found at chromosome 17 position 63939080, gene SCN4A: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AAAAAAAAAAGGAAGCGAAATAGCATCTTTTTGCAGCAACCTGGTTGGAGCTGTAGGCCATTATTCTAAGTAAAGTAACTCAGGAATGGAAAACCAGATAGCATATGTTCTCACTTGTAAGTGGGAGCTAAGCTATGAGGATGCAAAGGCACAAGAATGATATAATGGACTTTGGGAACTCAGTGGGGGAACGTTGAGGGAGGGGTGAGGGACAAAAGACTACATATTGGGTATAGTGTACACTGCTCAGGTGTCAGGTGCACTAAAATCTCAGAAATCACCACTAAAGAAATTATCCAGGTAACCAAAAAAAAAACTAC... | AAAAAAAAAAGGAAGCGAAATAGCATCTTTTTGCAGCAACCTGGTTGGAGCTGTAGGCCATTATTCTAAGTAAAGTAACTCAGGAATGGAAAACCAGATAGCATATGTTCTCACTTGTAAGTGGGAGCTAAGCTATGAGGATGCAAAGGCACAAGAATGATATAATGGACTTTGGGAACTCAGTGGGGGAACGTTGAGGGAGGGGTGAGGGACAAAAGACTACATATTGGGTATAGTGTACACTGCTCAGGTGTCAGGTGCACTAAAATCTCAGAAATCACCACTAAAGAAATTATCCAGGTAACCAAAAAAAAAACTAC... | benign | 281,820 |
Benign or pathogenic: chromosome 17, position 63939093, gene SCN4A variant? Disease(s) if pathogenic? | benign | AGCGAAATAGCATCTTTTTGCAGCAACCTGGTTGGAGCTGTAGGCCATTATTCTAAGTAAAGTAACTCAGGAATGGAAAACCAGATAGCATATGTTCTCACTTGTAAGTGGGAGCTAAGCTATGAGGATGCAAAGGCACAAGAATGATATAATGGACTTTGGGAACTCAGTGGGGGAACGTTGAGGGAGGGGTGAGGGACAAAAGACTACATATTGGGTATAGTGTACACTGCTCAGGTGTCAGGTGCACTAAAATCTCAGAAATCACCACTAAAGAAATTATCCAGGTAACCAAAAAAAAAACTACCTGTACCCCCAAA... | AGCGAAATAGCATCTTTTTGCAGCAACCTGGTTGGAGCTGTAGGCCATTATTCTAAGTAAAGTAACTCAGGAATGGAAAACCAGATAGCATATGTTCTCACTTGTAAGTGGGAGCTAAGCTATGAGGATGCAAAGGCACAAGAATGATATAATGGACTTTGGGAACTCAGTGGGGGAACGTTGAGGGAGGGGTGAGGGACAAAAGACTACATATTGGGTATAGTGTACACTGCTCAGGTGTCAGGTGCACTAAAATCTCAGAAATCACCACTAAAGAAATTATCCAGGTAACCAAAAAAAAAACTACCTGTACCCCCAAA... | benign | 281,821 |
Is the genetic change at chromosome 17, position 63939367, within gene SCN4A benign or pathogenic? Name the disease(s) if pathogenic. | benign | AGAAATTATCCAGGTAACCAAAAAAAAAACTACCTGTACCCCCAAAACTATTGACATAAAAATTTTGAAAAAAAAAGTAAGAAGAAGCTCCCACTCCAGGGAGGGAAGACAGCACCCTGGGACCACTCAGACAACCCTGTAGAGATTCTCCACACCTCCCCTCGCACTCACGCACAGAGAGCTGCAAGGTGGAAGGTGCCGCAGAGACAATGGAACGACACTGGGGGGCAGCCTGAGGGCCACTCCCCATCCCCCACGCCAGTGCTACATCACCTCAGGACCCAGGAAGAGAGGGTGCAGAAATCCTGAAAAGAATTAAG... | AGAAATTATCCAGGTAACCAAAAAAAAAACTACCTGTACCCCCAAAACTATTGACATAAAAATTTTGAAAAAAAAAGTAAGAAGAAGCTCCCACTCCAGGGAGGGAAGACAGCACCCTGGGACCACTCAGACAACCCTGTAGAGATTCTCCACACCTCCCCTCGCACTCACGCACAGAGAGCTGCAAGGTGGAAGGTGCCGCAGAGACAATGGAACGACACTGGGGGGCAGCCTGAGGGCCACTCCCCATCCCCCACGCCAGTGCTACATCACCTCAGGACCCAGGAAGAGAGGGTGCAGAAATCCTGAAAAGAATTAAG... | benign | 281,823 |
Chromosome 17, position 63945472, gene SCN4A: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hyperkalemic_periodic_paralysis'] | CCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGT... | CCACTTGTGGGAGCCCTTGCCCCAGGGGCCACTGGGGTCCCAGGTGGGAGGTAGGTGGGCACTGAGGAGCTTCGTGGGACCAAGTGAGGGTAAAGCACTCACTAGAGTTTCATGGACAGCCTCTGTGCATATGGTGTCTCTGTGGCACTACAAAGAGGCGTCCCTCCCTGCAGGTAGACCAAGTCCCCTGCCCCTGGGGTGGGCCTAACCTCACCCAGGGACACAGCCTGGTGGGTGGAAGGCAGGAAACCTTTTACCCCCATCAGTCCCCTAGGCAGGAGCCTGGCAGCACACACAGGACAGGGGGCCCAGAGGTCTGT... | pathogenic | 281,912 |
Does the chromosome 17 mutation at position 63949462 within gene SCN4A classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Congenital_myopathy', 'Hyperkalemic_periodic_paralysis'] | GACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCC... | GACTCCTTCGGGGAGGCCTGTGAGCCCATCTAAGAGGCTAAGAAAATCCTCCATTCCTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTTAAAAATAAATAAATAAAATGTATGAAGTAAGAAACTCCTCCACTCCTATTGGCAGGGATGGTAAGTAGCCCTCCTGCCTGCTGTCTTCCCCCAAGGCCTCCTTTCCCTGAGGAGAAGGGAAGGCCTCCCAGTCCCTAACCCCTCCC... | pathogenic | 281,942 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 63951916, gene SCN4A. What disease(s) is it linked to if pathogenic? | benign | GTAGCTCTGAGGGGGCAGGGGTATGAAAAGGGGTCAGGATGGAGCCAGGCTATCACAGCCCTCAGAACATGGGCGTGTGGTGCCCCTAGCGTCTGAGCCTTCCCACCCGCAGGGTCTGTTTGGCTGAGGAATCCAGAAAGGGTGGAAAATGTTCCCCAGCCAAAGCCTCCATCCAGTGCCAAGGGAACCTGATCAGTGTTGGGAGCGGGAGTGGGGGAGGCGGGTGCTCCAGCCGGGCCAGGCTTCCTCCCACCTCCTCCTGCTGGGCCAGGCCAGCTTCCCGGCCCCAGACTCCACCCGGCAGGGGACCCCTTCAAGGC... | GTAGCTCTGAGGGGGCAGGGGTATGAAAAGGGGTCAGGATGGAGCCAGGCTATCACAGCCCTCAGAACATGGGCGTGTGGTGCCCCTAGCGTCTGAGCCTTCCCACCCGCAGGGTCTGTTTGGCTGAGGAATCCAGAAAGGGTGGAAAATGTTCCCCAGCCAAAGCCTCCATCCAGTGCCAAGGGAACCTGATCAGTGTTGGGAGCGGGAGTGGGGGAGGCGGGTGCTCCAGCCGGGCCAGGCTTCCTCCCACCTCCTCCTGCTGGGCCAGGCCAGCTTCCCGGCCCCAGACTCCACCCGGCAGGGGACCCCTTCAAGGC... | benign | 281,969 |
Classify the chromosome 17 variant at position 63961180 affecting gene SCN4A (sodium voltage-gated channel alpha subunit 4) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCA... | TGCACAAGGCAGAGGAGGCCTCGTTTTCAGCCCTCTAGCTTCCTGGGGTTTCTCCTCCCATCCCTGTGCCCACCCTCCTTAGTCTCCTCACCCCACCCCCATCCCAGCCCCTGGCCCTGGGGCTTTTGTGTACCAGACGGAAGGAGCGTAGCACAGACAGTCCCTGTACGTTGGCCAGGCCTAGCTCTACCAGGCTGAGGGTGACGATGATGCTGTCGAAGATATTCCAACCCTGCTGGAAATACTCGTAGGGGTCCATGGCAATCAGCTTCAGAACCATCTCTGCTGTGAAGATGCCTGTGAAGACCTAGGGGGTGGCA... | benign | 282,002 |
Regarding the variant at chromosome 17 and position 63966092, affecting gene SCN4A (sodium voltage-gated channel alpha subunit 4): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TTGACTCTGATGCCCTGACTAACCCTCCACTTGTTGACAGAATGAGAAACTGGTCAGCCGCTCCCTGTGGCCTCATCAGGACCTGCCCTTCCCTCAGTATGGACCTATCCACTACCCAGAAAGCATCACAAAATCAGAAATATTTGAGCTGGAAGAATACTTCAGGTTTAGCTACTCCAGATTCCTTGTTATAGACAGGGAAACTGAGGCACAGAGCAGAGAAATGCTTTTTCTACTGCTTGGATCCCTCCATCCCCCTGCCACCAGCAAAGCTCCCAGCCCAGGGCCTTCTGCTCCTTCTGCCTCAAAACCCCTACCCC... | TTGACTCTGATGCCCTGACTAACCCTCCACTTGTTGACAGAATGAGAAACTGGTCAGCCGCTCCCTGTGGCCTCATCAGGACCTGCCCTTCCCTCAGTATGGACCTATCCACTACCCAGAAAGCATCACAAAATCAGAAATATTTGAGCTGGAAGAATACTTCAGGTTTAGCTACTCCAGATTCCTTGTTATAGACAGGGAAACTGAGGCACAGAGCAGAGAAATGCTTTTTCTACTGCTTGGATCCCTCCATCCCCCTGCCACCAGCAAAGCTCCCAGCCCAGGGCCTTCTGCTCCTTCTGCCTCAAAACCCCTACCCC... | benign | 282,027 |
Chromosome 17, position 63966170, gene SCN4A (sodium voltage-gated channel alpha subunit 4): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Congenital_myasthenic_syndrome_16', 'Congenital_myopathy_22A,_classic', 'Congenital_myopathy_22B,_severe_fetal', 'Hyperkalemic_periodic_paralysis', 'Hypokalemic_periodic_paralysis,_type_2', 'Inborn_genetic_diseases', 'Paramyotonia_congenita_of_Von_Eulenburg', 'Potassium-aggravated_myotonia'] | GGACCTGCCCTTCCCTCAGTATGGACCTATCCACTACCCAGAAAGCATCACAAAATCAGAAATATTTGAGCTGGAAGAATACTTCAGGTTTAGCTACTCCAGATTCCTTGTTATAGACAGGGAAACTGAGGCACAGAGCAGAGAAATGCTTTTTCTACTGCTTGGATCCCTCCATCCCCCTGCCACCAGCAAAGCTCCCAGCCCAGGGCCTTCTGCTCCTTCTGCCTCAAAACCCCTACCCCTGTACCCTCCCTCACCCTCGGCCCCCCAGGGAGAAGCCAGTGGCAGCCCCGGCTGAGGGCAGGTAGAACCCTGGGTCC... | GGACCTGCCCTTCCCTCAGTATGGACCTATCCACTACCCAGAAAGCATCACAAAATCAGAAATATTTGAGCTGGAAGAATACTTCAGGTTTAGCTACTCCAGATTCCTTGTTATAGACAGGGAAACTGAGGCACAGAGCAGAGAAATGCTTTTTCTACTGCTTGGATCCCTCCATCCCCCTGCCACCAGCAAAGCTCCCAGCCCAGGGCCTTCTGCTCCTTCTGCCTCAAAACCCCTACCCCTGTACCCTCCCTCACCCTCGGCCCCCCAGGGAGAAGCCAGTGGCAGCCCCGGCTGAGGGCAGGTAGAACCCTGGGTCC... | pathogenic | 282,028 |
Does the genetic variant at chromosome 17, position 63971269, impacting gene SCN4A (sodium voltage-gated channel alpha subunit 4), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | ACCCGAGGAACAGCAGAAGCTCTAGACTGAACTTGAAACATCATTATATTCTTTAGACAGACAAAGGCATAAACGATGCTGAAATAATCCCAGGGGCAGGTTCCCATCACCTGTGGAAGAGCCGTAACTTCTTCCTTGGGCCTAATCGTAGTGCCTCTTGCGTTAATATGACTTCATTTCCTTTTCTTATCCTGATATGGAAAACAAATGCTCGGCAGCCTCCTTATAAAAGCCCTCCTGCGCCCCGAGGATGCTGGCAGCTGGCACAGAGGAAAGGCAATGCCGTCTTGGCTCAGTGGCCAATGTACAGTGTGGAATTT... | ACCCGAGGAACAGCAGAAGCTCTAGACTGAACTTGAAACATCATTATATTCTTTAGACAGACAAAGGCATAAACGATGCTGAAATAATCCCAGGGGCAGGTTCCCATCACCTGTGGAAGAGCCGTAACTTCTTCCTTGGGCCTAATCGTAGTGCCTCTTGCGTTAATATGACTTCATTTCCTTTTCTTATCCTGATATGGAAAACAAATGCTCGGCAGCCTCCTTATAAAAGCCCTCCTGCGCCCCGAGGATGCTGGCAGCTGGCACAGAGGAAAGGCAATGCCGTCTTGGCTCAGTGGCCAATGTACAGTGTGGAATTT... | benign | 282,051 |
Is the genetic variant on chromosome 17, position 64480391, gene POLG2, benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CTCTTACAATAAACAATATTATAATAAAGATGCAATTTGGTATAACAAATTATACCAAAATCATGTTTCCTTTATTGAGTAGCTAGCTTATAGCTTCTAGTTCAGCAATAACCAAACAGATAGATGCACGGCTGACCTTCTGTATGCTTACCAAGTCACACTATCTCATTACTGTTTATTTCCTTTGTAGGACTCCATCAGAAACTTTTTATTTCTCTGTTTATTTATTGTCTATTTTGTCCTACTAGAATATAAGCTTAACAAGAATAGTATGGCTGGGCGTGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGC... | CTCTTACAATAAACAATATTATAATAAAGATGCAATTTGGTATAACAAATTATACCAAAATCATGTTTCCTTTATTGAGTAGCTAGCTTATAGCTTCTAGTTCAGCAATAACCAAACAGATAGATGCACGGCTGACCTTCTGTATGCTTACCAAGTCACACTATCTCATTACTGTTTATTTCCTTTGTAGGACTCCATCAGAAACTTTTTATTTCTCTGTTTATTTATTGTCTATTTTGTCCTACTAGAATATAAGCTTAACAAGAATAGTATGGCTGGGCGTGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGC... | benign | 282,082 |
Is the chromosome 17, position 64482911 variant in POLG2 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CCCGGAAAATGTTTCAAGAAGAGACTGATCAACCCATTTCACTGGAATGCTGGAGACAAAAGCTTGACTGGAAATACAGAAGTAACGATGAATAAATGACACAGTAAACTTAACTGTTTTCTTTACAAGCAATAGGGAAGCAAAACAAAGCAAAATTTAAAAACCCCTTAACAGTCTAGCACCAACAGTCCAGAGCAGGGTTCCTCACCCTTGCACTGCTGACCCAGGGTGTTTAGCAGCATTCCTGGCCTCCAGGAGAGGCCTGCAGCACCCTCCCACTCTTAGGACAACCACAAATCTCTCCAGACATTACTAAATGG... | CCCGGAAAATGTTTCAAGAAGAGACTGATCAACCCATTTCACTGGAATGCTGGAGACAAAAGCTTGACTGGAAATACAGAAGTAACGATGAATAAATGACACAGTAAACTTAACTGTTTTCTTTACAAGCAATAGGGAAGCAAAACAAAGCAAAATTTAAAAACCCCTTAACAGTCTAGCACCAACAGTCCAGAGCAGGGTTCCTCACCCTTGCACTGCTGACCCAGGGTGTTTAGCAGCATTCCTGGCCTCCAGGAGAGGCCTGCAGCACCCTCCCACTCTTAGGACAACCACAAATCTCTCCAGACATTACTAAATGG... | benign | 282,084 |
Variant at chromosome position 64483014, chromosome 17, gene POLG2: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GTAAACTTAACTGTTTTCTTTACAAGCAATAGGGAAGCAAAACAAAGCAAAATTTAAAAACCCCTTAACAGTCTAGCACCAACAGTCCAGAGCAGGGTTCCTCACCCTTGCACTGCTGACCCAGGGTGTTTAGCAGCATTCCTGGCCTCCAGGAGAGGCCTGCAGCACCCTCCCACTCTTAGGACAACCACAAATCTCTCCAGACATTACTAAATGGTGACTGAGCTACAGCATCCTAGGAGCTTCCTAGCTTATAAGGGTATTAGGGAGGCTGCCATACCCTGGGAGAAAATGTGGGACATACGCCATTATCTTCTCCT... | GTAAACTTAACTGTTTTCTTTACAAGCAATAGGGAAGCAAAACAAAGCAAAATTTAAAAACCCCTTAACAGTCTAGCACCAACAGTCCAGAGCAGGGTTCCTCACCCTTGCACTGCTGACCCAGGGTGTTTAGCAGCATTCCTGGCCTCCAGGAGAGGCCTGCAGCACCCTCCCACTCTTAGGACAACCACAAATCTCTCCAGACATTACTAAATGGTGACTGAGCTACAGCATCCTAGGAGCTTCCTAGCTTATAAGGGTATTAGGGAGGCTGCCATACCCTGGGAGAAAATGTGGGACATACGCCATTATCTTCTCCT... | benign | 282,087 |
Determine whether the variant at chromosome 17, position 64496548, in gene POLG2 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['POLG2-related_disorder'] | TGGTGAATTTTCTAATGTATCTTTCCTTCTACATTTATTCCATAGCTTCTGTAAAAACATAAGCTTTCTCTACCTCTTCCCCCCGCCCCCGACCTCTAGGGTCAATTATTTGTTTTTGATTAATACTATTGACTCTTAGATTTTAGTCAATGTGTTATGATCCATTACCATTAATATGTATCTTAATGTTCAATTTGTCCTAGATGTGGCCAGTGACAACCCTCCTCAAGCCAGCATCTGTGACCTTTTTATATGACCCATTAGTCTTCAAGCAATTCTTTGCTTTTTAGCACCATAAAGTGTTTCAAACTCACCTTGTA... | TGGTGAATTTTCTAATGTATCTTTCCTTCTACATTTATTCCATAGCTTCTGTAAAAACATAAGCTTTCTCTACCTCTTCCCCCCGCCCCCGACCTCTAGGGTCAATTATTTGTTTTTGATTAATACTATTGACTCTTAGATTTTAGTCAATGTGTTATGATCCATTACCATTAATATGTATCTTAATGTTCAATTTGTCCTAGATGTGGCCAGTGACAACCCTCCTCAAGCCAGCATCTGTGACCTTTTTATATGACCCATTAGTCTTCAAGCAATTCTTTGCTTTTTAGCACCATAAAGTGTTTCAAACTCACCTTGTA... | pathogenic | 282,101 |
Classify the chromosome 17 variant at position 65534007 affecting gene AXIN2 (axin 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Oligodontia-cancer_predisposition_syndrome'] | TACAAATTGAGATGTTGAAGCACCAGCCCTGCTGGGAGGGTGAGGCGTGACACCCTGTGTCCCTGTCCTACCCCAGGAGGACACTGAGTCTAGCTCAGGCCCTGCAGAGATAAGGCAGCTGGGAGGGCCTTCCCACAGCCTGATCCACTCAGGAAAGAACTGGAGAGGATCGGAGAGTTGACCATTTGTGCAAGTCTTTGTGCATTAAAGGGGAGGCCAGGGCTTCAAAGCCAGGCTTATTAACTGTGCCTCAGGGAGAAAAAAAAAAAATCAGAGCCAGATGTGGCCACAGCAGCTGAAGGAGGCACTTTCCCCACAAG... | TACAAATTGAGATGTTGAAGCACCAGCCCTGCTGGGAGGGTGAGGCGTGACACCCTGTGTCCCTGTCCTACCCCAGGAGGACACTGAGTCTAGCTCAGGCCCTGCAGAGATAAGGCAGCTGGGAGGGCCTTCCCACAGCCTGATCCACTCAGGAAAGAACTGGAGAGGATCGGAGAGTTGACCATTTGTGCAAGTCTTTGTGCATTAAAGGGGAGGCCAGGGCTTCAAAGCCAGGCTTATTAACTGTGCCTCAGGGAGAAAAAAAAAAAATCAGAGCCAGATGTGGCCACAGCAGCTGAAGGAGGCACTTTCCCCACAAG... | pathogenic | 282,186 |
Evaluate the clinical significance of the mutation at chromosome 17, position 65536397 in gene AXIN2 (axin 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['AXIN2-related_attenuated_familial_adenomatous_polyposis', 'Oligodontia-cancer_predisposition_syndrome'] | ACCGCCACCAAATGAAAGTATACGGCGGCCTCTTTCAGGCTGGCATAAATGGGGTGCTTCCTCAAGAAGATGAGAGAAGAGAAATTATCACAGAGATGCCGGGTCTCACCTGGATTGGAGAGTGCTAAAGAGACAAACCCAGAGCAGGACACCTTTGGGATGGCATGATCTCAGAATGCCTAAAGCCCACCCCTTATTCCAGCAGAATGAGAACAACTAATGGGGGTTATCACACAGTCATGTCCATTTCCCCATTTCTTCTGAGATTTTGTAGAATGGCTTGAAAAAAAGGCTGCTAGGCCGGGCGTGGTGGCTCACGC... | ACCGCCACCAAATGAAAGTATACGGCGGCCTCTTTCAGGCTGGCATAAATGGGGTGCTTCCTCAAGAAGATGAGAGAAGAGAAATTATCACAGAGATGCCGGGTCTCACCTGGATTGGAGAGTGCTAAAGAGACAAACCCAGAGCAGGACACCTTTGGGATGGCATGATCTCAGAATGCCTAAAGCCCACCCCTTATTCCAGCAGAATGAGAACAACTAATGGGGGTTATCACACAGTCATGTCCATTTCCCCATTTCTTCTGAGATTTTGTAGAATGGCTTGAAAAAAAGGCTGCTAGGCCGGGCGTGGTGGCTCACGC... | pathogenic | 282,271 |
Determine whether the variant at chromosome 17, position 65536408, in gene AXIN2 (axin 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Oligodontia-cancer_predisposition_syndrome'] | ATGAAAGTATACGGCGGCCTCTTTCAGGCTGGCATAAATGGGGTGCTTCCTCAAGAAGATGAGAGAAGAGAAATTATCACAGAGATGCCGGGTCTCACCTGGATTGGAGAGTGCTAAAGAGACAAACCCAGAGCAGGACACCTTTGGGATGGCATGATCTCAGAATGCCTAAAGCCCACCCCTTATTCCAGCAGAATGAGAACAACTAATGGGGGTTATCACACAGTCATGTCCATTTCCCCATTTCTTCTGAGATTTTGTAGAATGGCTTGAAAAAAAGGCTGCTAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCA... | ATGAAAGTATACGGCGGCCTCTTTCAGGCTGGCATAAATGGGGTGCTTCCTCAAGAAGATGAGAGAAGAGAAATTATCACAGAGATGCCGGGTCTCACCTGGATTGGAGAGTGCTAAAGAGACAAACCCAGAGCAGGACACCTTTGGGATGGCATGATCTCAGAATGCCTAAAGCCCACCCCTTATTCCAGCAGAATGAGAACAACTAATGGGGGTTATCACACAGTCATGTCCATTTCCCCATTTCTTCTGAGATTTTGTAGAATGGCTTGAAAAAAAGGCTGCTAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCA... | pathogenic | 282,273 |
Variant chromosome 17, position 65536436, gene AXIN2 (axin 2): benign or pathogenic? Disease(s)? | benign | CTGGCATAAATGGGGTGCTTCCTCAAGAAGATGAGAGAAGAGAAATTATCACAGAGATGCCGGGTCTCACCTGGATTGGAGAGTGCTAAAGAGACAAACCCAGAGCAGGACACCTTTGGGATGGCATGATCTCAGAATGCCTAAAGCCCACCCCTTATTCCAGCAGAATGAGAACAACTAATGGGGGTTATCACACAGTCATGTCCATTTCCCCATTTCTTCTGAGATTTTGTAGAATGGCTTGAAAAAAAGGCTGCTAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAT... | CTGGCATAAATGGGGTGCTTCCTCAAGAAGATGAGAGAAGAGAAATTATCACAGAGATGCCGGGTCTCACCTGGATTGGAGAGTGCTAAAGAGACAAACCCAGAGCAGGACACCTTTGGGATGGCATGATCTCAGAATGCCTAAAGCCCACCCCTTATTCCAGCAGAATGAGAACAACTAATGGGGGTTATCACACAGTCATGTCCATTTCCCCATTTCTTCTGAGATTTTGTAGAATGGCTTGAAAAAAAGGCTGCTAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAT... | benign | 282,281 |
Clinically, how would you classify the variant at chromosome 17, position 65536437, gene AXIN2 (axin 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Oligodontia-cancer_predisposition_syndrome'] | TGGCATAAATGGGGTGCTTCCTCAAGAAGATGAGAGAAGAGAAATTATCACAGAGATGCCGGGTCTCACCTGGATTGGAGAGTGCTAAAGAGACAAACCCAGAGCAGGACACCTTTGGGATGGCATGATCTCAGAATGCCTAAAGCCCACCCCTTATTCCAGCAGAATGAGAACAACTAATGGGGGTTATCACACAGTCATGTCCATTTCCCCATTTCTTCTGAGATTTTGTAGAATGGCTTGAAAAAAAGGCTGCTAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATC... | TGGCATAAATGGGGTGCTTCCTCAAGAAGATGAGAGAAGAGAAATTATCACAGAGATGCCGGGTCTCACCTGGATTGGAGAGTGCTAAAGAGACAAACCCAGAGCAGGACACCTTTGGGATGGCATGATCTCAGAATGCCTAAAGCCCACCCCTTATTCCAGCAGAATGAGAACAACTAATGGGGGTTATCACACAGTCATGTCCATTTCCCCATTTCTTCTGAGATTTTGTAGAATGGCTTGAAAAAAAGGCTGCTAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATC... | pathogenic | 282,282 |
Does the chromosome 17 mutation at position 65536437 within gene AXIN2 (axin 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Oligodontia-cancer_predisposition_syndrome'] | TGGCATAAATGGGGTGCTTCCTCAAGAAGATGAGAGAAGAGAAATTATCACAGAGATGCCGGGTCTCACCTGGATTGGAGAGTGCTAAAGAGACAAACCCAGAGCAGGACACCTTTGGGATGGCATGATCTCAGAATGCCTAAAGCCCACCCCTTATTCCAGCAGAATGAGAACAACTAATGGGGGTTATCACACAGTCATGTCCATTTCCCCATTTCTTCTGAGATTTTGTAGAATGGCTTGAAAAAAAGGCTGCTAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATC... | TGGCATAAATGGGGTGCTTCCTCAAGAAGATGAGAGAAGAGAAATTATCACAGAGATGCCGGGTCTCACCTGGATTGGAGAGTGCTAAAGAGACAAACCCAGAGCAGGACACCTTTGGGATGGCATGATCTCAGAATGCCTAAAGCCCACCCCTTATTCCAGCAGAATGAGAACAACTAATGGGGGTTATCACACAGTCATGTCCATTTCCCCATTTCTTCTGAGATTTTGTAGAATGGCTTGAAAAAAAGGCTGCTAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATC... | pathogenic | 282,283 |
Does the variant on chromosome 17 at location 65536466 affecting gene AXIN2 (axin 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Colorectal_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Oligodontia-cancer_predisposition_syndrome'] | ATGAGAGAAGAGAAATTATCACAGAGATGCCGGGTCTCACCTGGATTGGAGAGTGCTAAAGAGACAAACCCAGAGCAGGACACCTTTGGGATGGCATGATCTCAGAATGCCTAAAGCCCACCCCTTATTCCAGCAGAATGAGAACAACTAATGGGGGTTATCACACAGTCATGTCCATTTCCCCATTTCTTCTGAGATTTTGTAGAATGGCTTGAAAAAAAGGCTGCTAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCTT... | ATGAGAGAAGAGAAATTATCACAGAGATGCCGGGTCTCACCTGGATTGGAGAGTGCTAAAGAGACAAACCCAGAGCAGGACACCTTTGGGATGGCATGATCTCAGAATGCCTAAAGCCCACCCCTTATTCCAGCAGAATGAGAACAACTAATGGGGGTTATCACACAGTCATGTCCATTTCCCCATTTCTTCTGAGATTTTGTAGAATGGCTTGAAAAAAAGGCTGCTAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCTT... | pathogenic | 282,295 |
A genetic variant at chromosome 17, position 65536466, affecting gene AXIN2 (axin 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Carcinoma_of_colon', 'Colorectal_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Oligodontia-cancer_predisposition_syndrome'] | ATGAGAGAAGAGAAATTATCACAGAGATGCCGGGTCTCACCTGGATTGGAGAGTGCTAAAGAGACAAACCCAGAGCAGGACACCTTTGGGATGGCATGATCTCAGAATGCCTAAAGCCCACCCCTTATTCCAGCAGAATGAGAACAACTAATGGGGGTTATCACACAGTCATGTCCATTTCCCCATTTCTTCTGAGATTTTGTAGAATGGCTTGAAAAAAAGGCTGCTAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCTT... | ATGAGAGAAGAGAAATTATCACAGAGATGCCGGGTCTCACCTGGATTGGAGAGTGCTAAAGAGACAAACCCAGAGCAGGACACCTTTGGGATGGCATGATCTCAGAATGCCTAAAGCCCACCCCTTATTCCAGCAGAATGAGAACAACTAATGGGGGTTATCACACAGTCATGTCCATTTCCCCATTTCTTCTGAGATTTTGTAGAATGGCTTGAAAAAAAGGCTGCTAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCTT... | pathogenic | 282,296 |
Variant at chromosome position 65536467, chromosome 17, gene AXIN2 (axin 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Oligodontia-cancer_predisposition_syndrome'] | TGAGAGAAGAGAAATTATCACAGAGATGCCGGGTCTCACCTGGATTGGAGAGTGCTAAAGAGACAAACCCAGAGCAGGACACCTTTGGGATGGCATGATCTCAGAATGCCTAAAGCCCACCCCTTATTCCAGCAGAATGAGAACAACTAATGGGGGTTATCACACAGTCATGTCCATTTCCCCATTTCTTCTGAGATTTTGTAGAATGGCTTGAAAAAAAGGCTGCTAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCTTG... | TGAGAGAAGAGAAATTATCACAGAGATGCCGGGTCTCACCTGGATTGGAGAGTGCTAAAGAGACAAACCCAGAGCAGGACACCTTTGGGATGGCATGATCTCAGAATGCCTAAAGCCCACCCCTTATTCCAGCAGAATGAGAACAACTAATGGGGGTTATCACACAGTCATGTCCATTTCCCCATTTCTTCTGAGATTTTGTAGAATGGCTTGAAAAAAAGGCTGCTAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCTTG... | pathogenic | 282,297 |
Variant on chromosome 17, at position 65536849, affecting AXIN2 (axin 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCGCCTGCAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCCTGAACCCAGGAGGCGGAGGCTGCAGTGGGCCAAGATTAAGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCTGTCTCAAAAAGAAAAAAAAAAGTGGCTGGCCCAGACCCAGAGAGCTGGTACACTTAGGGTCAACCAATTGAAACAATGAAAGGGTCCAGGGCAGTGGCCTATTGAGGACTTCAAACATTGCTCATTGCTCAGGATGAAGACACTAAGAAAGAAAACTTGATACAGACCATTTTAGATCTCTTTAGCAGATTTCTTT... | GCGCCTGCAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCCTGAACCCAGGAGGCGGAGGCTGCAGTGGGCCAAGATTAAGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCTGTCTCAAAAAGAAAAAAAAAAGTGGCTGGCCCAGACCCAGAGAGCTGGTACACTTAGGGTCAACCAATTGAAACAATGAAAGGGTCCAGGGCAGTGGCCTATTGAGGACTTCAAACATTGCTCATTGCTCAGGATGAAGACACTAAGAAAGAAAACTTGATACAGACCATTTTAGATCTCTTTAGCAGATTTCTTT... | benign | 282,348 |
Considering the variant on chromosome 17, location 65536850, involving gene AXIN2 (axin 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CGCCTGCAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCCTGAACCCAGGAGGCGGAGGCTGCAGTGGGCCAAGATTAAGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCTGTCTCAAAAAGAAAAAAAAAAGTGGCTGGCCCAGACCCAGAGAGCTGGTACACTTAGGGTCAACCAATTGAAACAATGAAAGGGTCCAGGGCAGTGGCCTATTGAGGACTTCAAACATTGCTCATTGCTCAGGATGAAGACACTAAGAAAGAAAACTTGATACAGACCATTTTAGATCTCTTTAGCAGATTTCTTTT... | CGCCTGCAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCCTGAACCCAGGAGGCGGAGGCTGCAGTGGGCCAAGATTAAGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCTGTCTCAAAAAGAAAAAAAAAAGTGGCTGGCCCAGACCCAGAGAGCTGGTACACTTAGGGTCAACCAATTGAAACAATGAAAGGGTCCAGGGCAGTGGCCTATTGAGGACTTCAAACATTGCTCATTGCTCAGGATGAAGACACTAAGAAAGAAAACTTGATACAGACCATTTTAGATCTCTTTAGCAGATTTCTTTT... | benign | 282,349 |
Benign or pathogenic: chromosome 17, position 65536858, gene AXIN2 (axin 2) variant? Disease(s) if pathogenic? | benign | ATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCCTGAACCCAGGAGGCGGAGGCTGCAGTGGGCCAAGATTAAGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCTGTCTCAAAAAGAAAAAAAAAAGTGGCTGGCCCAGACCCAGAGAGCTGGTACACTTAGGGTCAACCAATTGAAACAATGAAAGGGTCCAGGGCAGTGGCCTATTGAGGACTTCAAACATTGCTCATTGCTCAGGATGAAGACACTAAGAAAGAAAACTTGATACAGACCATTTTAGATCTCTTTAGCAGATTTCTTTTTAATTGCA... | ATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCCTGAACCCAGGAGGCGGAGGCTGCAGTGGGCCAAGATTAAGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCTGTCTCAAAAAGAAAAAAAAAAGTGGCTGGCCCAGACCCAGAGAGCTGGTACACTTAGGGTCAACCAATTGAAACAATGAAAGGGTCCAGGGCAGTGGCCTATTGAGGACTTCAAACATTGCTCATTGCTCAGGATGAAGACACTAAGAAAGAAAACTTGATACAGACCATTTTAGATCTCTTTAGCAGATTTCTTTTTAATTGCA... | benign | 282,352 |
Classify the chromosome 17 variant at position 65536859 affecting gene AXIN2 (axin 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCCTGAACCCAGGAGGCGGAGGCTGCAGTGGGCCAAGATTAAGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCTGTCTCAAAAAGAAAAAAAAAAGTGGCTGGCCCAGACCCAGAGAGCTGGTACACTTAGGGTCAACCAATTGAAACAATGAAAGGGTCCAGGGCAGTGGCCTATTGAGGACTTCAAACATTGCTCATTGCTCAGGATGAAGACACTAAGAAAGAAAACTTGATACAGACCATTTTAGATCTCTTTAGCAGATTTCTTTTTAATTGCAC... | TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCCTGAACCCAGGAGGCGGAGGCTGCAGTGGGCCAAGATTAAGCCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCTGTCTCAAAAAGAAAAAAAAAAGTGGCTGGCCCAGACCCAGAGAGCTGGTACACTTAGGGTCAACCAATTGAAACAATGAAAGGGTCCAGGGCAGTGGCCTATTGAGGACTTCAAACATTGCTCATTGCTCAGGATGAAGACACTAAGAAAGAAAACTTGATACAGACCATTTTAGATCTCTTTAGCAGATTTCTTTTTAATTGCAC... | benign | 282,356 |
A genetic variant at chromosome 17, position 65537398, affecting gene AXIN2 (axin 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Oligodontia-cancer_predisposition_syndrome'] | TTTCCAGCTGAATTTGAGGTCCCTTCTACACTTCTGCTAATGGCTTCATGTCCCAGCTTTTGATTTGTGTATGACCAGAAAAACTTTTGCTATGATGCATTTGTCGGCAGGACATGGATGGCAACATCTACGTTTACTGTTCCTCATCACTAGCGCTAAAATCAAAGTGATTTTAAAAACCAAAAAAAGTTTCATGAAAATGAAACTCCAGATAGCGAATATTCTGAAACATAAAGCACTCGGCAGATCTCAGTAATGTCAGGTAAAGACACTCACTCTTCTGGAGCCAGGCTTGGATTGGAGAAGGGTGTGGCTCCCGT... | TTTCCAGCTGAATTTGAGGTCCCTTCTACACTTCTGCTAATGGCTTCATGTCCCAGCTTTTGATTTGTGTATGACCAGAAAAACTTTTGCTATGATGCATTTGTCGGCAGGACATGGATGGCAACATCTACGTTTACTGTTCCTCATCACTAGCGCTAAAATCAAAGTGATTTTAAAAACCAAAAAAAGTTTCATGAAAATGAAACTCCAGATAGCGAATATTCTGAAACATAAAGCACTCGGCAGATCTCAGTAATGTCAGGTAAAGACACTCACTCTTCTGGAGCCAGGCTTGGATTGGAGAAGGGTGTGGCTCCCGT... | pathogenic | 282,445 |
Is the variant located on chromosome 17 at position 65537442, gene AXIN2 (axin 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Oligodontia-cancer_predisposition_syndrome'] | TTCATGTCCCAGCTTTTGATTTGTGTATGACCAGAAAAACTTTTGCTATGATGCATTTGTCGGCAGGACATGGATGGCAACATCTACGTTTACTGTTCCTCATCACTAGCGCTAAAATCAAAGTGATTTTAAAAACCAAAAAAAGTTTCATGAAAATGAAACTCCAGATAGCGAATATTCTGAAACATAAAGCACTCGGCAGATCTCAGTAATGTCAGGTAAAGACACTCACTCTTCTGGAGCCAGGCTTGGATTGGAGAAGGGTGTGGCTCCCGTCTGAACAGTGGCCGAATGATTCCTGTCCCTCTGCTGACTGGCCA... | TTCATGTCCCAGCTTTTGATTTGTGTATGACCAGAAAAACTTTTGCTATGATGCATTTGTCGGCAGGACATGGATGGCAACATCTACGTTTACTGTTCCTCATCACTAGCGCTAAAATCAAAGTGATTTTAAAAACCAAAAAAAGTTTCATGAAAATGAAACTCCAGATAGCGAATATTCTGAAACATAAAGCACTCGGCAGATCTCAGTAATGTCAGGTAAAGACACTCACTCTTCTGGAGCCAGGCTTGGATTGGAGAAGGGTGTGGCTCCCGTCTGAACAGTGGCCGAATGATTCCTGTCCCTCTGCTGACTGGCCA... | pathogenic | 282,460 |
Variant in AXIN2 (axin 2), chromosome 17, position 65537543—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Oligodontia-cancer_predisposition_syndrome'] | ATCACTAGCGCTAAAATCAAAGTGATTTTAAAAACCAAAAAAAGTTTCATGAAAATGAAACTCCAGATAGCGAATATTCTGAAACATAAAGCACTCGGCAGATCTCAGTAATGTCAGGTAAAGACACTCACTCTTCTGGAGCCAGGCTTGGATTGGAGAAGGGTGTGGCTCCCGTCTGAACAGTGGCCGAATGATTCCTGTCCCTCTGCTGACTGGCCACACAGCACCTGAGGACACAGCCAGGGCGAGGGATTTAGAGGTACACTGTTGTCCCCAGAGCAATTGAAAAGCAGACAGAAAATTACTATTTGGCCTCCTGA... | ATCACTAGCGCTAAAATCAAAGTGATTTTAAAAACCAAAAAAAGTTTCATGAAAATGAAACTCCAGATAGCGAATATTCTGAAACATAAAGCACTCGGCAGATCTCAGTAATGTCAGGTAAAGACACTCACTCTTCTGGAGCCAGGCTTGGATTGGAGAAGGGTGTGGCTCCCGTCTGAACAGTGGCCGAATGATTCCTGTCCCTCTGCTGACTGGCCACACAGCACCTGAGGACACAGCCAGGGCGAGGGATTTAGAGGTACACTGTTGTCCCCAGAGCAATTGAAAAGCAGACAGAAAATTACTATTTGGCCTCCTGA... | pathogenic | 282,496 |
Mutation at chromosome 17, position 65537563, within AXIN2 (axin 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Colorectal_cancer', 'Oligodontia', 'Oligodontia-cancer_predisposition_syndrome'] | AGTGATTTTAAAAACCAAAAAAAGTTTCATGAAAATGAAACTCCAGATAGCGAATATTCTGAAACATAAAGCACTCGGCAGATCTCAGTAATGTCAGGTAAAGACACTCACTCTTCTGGAGCCAGGCTTGGATTGGAGAAGGGTGTGGCTCCCGTCTGAACAGTGGCCGAATGATTCCTGTCCCTCTGCTGACTGGCCACACAGCACCTGAGGACACAGCCAGGGCGAGGGATTTAGAGGTACACTGTTGTCCCCAGAGCAATTGAAAAGCAGACAGAAAATTACTATTTGGCCTCCTGAAGAGACACGAACCCGACTTC... | AGTGATTTTAAAAACCAAAAAAAGTTTCATGAAAATGAAACTCCAGATAGCGAATATTCTGAAACATAAAGCACTCGGCAGATCTCAGTAATGTCAGGTAAAGACACTCACTCTTCTGGAGCCAGGCTTGGATTGGAGAAGGGTGTGGCTCCCGTCTGAACAGTGGCCGAATGATTCCTGTCCCTCTGCTGACTGGCCACACAGCACCTGAGGACACAGCCAGGGCGAGGGATTTAGAGGTACACTGTTGTCCCCAGAGCAATTGAAAAGCAGACAGAAAATTACTATTTGGCCTCCTGAAGAGACACGAACCCGACTTC... | pathogenic | 282,507 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 65537706, gene AXIN2 (axin 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Oligodontia-cancer_predisposition_syndrome'] | TGTGGCTCCCGTCTGAACAGTGGCCGAATGATTCCTGTCCCTCTGCTGACTGGCCACACAGCACCTGAGGACACAGCCAGGGCGAGGGATTTAGAGGTACACTGTTGTCCCCAGAGCAATTGAAAAGCAGACAGAAAATTACTATTTGGCCTCCTGAAGAGACACGAACCCGACTTCCATCCTTACGGAGACCCAACCAAGACCCTGGGTTAACAGTGGCTGAAGAGGCCAGGAAGACGTCTTGGAACAGCCATTCTAAGCCCCCCTGGGAGCCCAGGATGGGACATTCTCAGCCCCAGCAAAGGGCTGAGGACTCTTGA... | TGTGGCTCCCGTCTGAACAGTGGCCGAATGATTCCTGTCCCTCTGCTGACTGGCCACACAGCACCTGAGGACACAGCCAGGGCGAGGGATTTAGAGGTACACTGTTGTCCCCAGAGCAATTGAAAAGCAGACAGAAAATTACTATTTGGCCTCCTGAAGAGACACGAACCCGACTTCCATCCTTACGGAGACCCAACCAAGACCCTGGGTTAACAGTGGCTGAAGAGGCCAGGAAGACGTCTTGGAACAGCCATTCTAAGCCCCCCTGGGAGCCCAGGATGGGACATTCTCAGCCCCAGCAAAGGGCTGAGGACTCTTGA... | pathogenic | 282,560 |
Mutation found at chromosome 17 position 65537761, gene AXIN2 (axin 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Oligodontia-cancer_predisposition_syndrome'] | ACACAGCACCTGAGGACACAGCCAGGGCGAGGGATTTAGAGGTACACTGTTGTCCCCAGAGCAATTGAAAAGCAGACAGAAAATTACTATTTGGCCTCCTGAAGAGACACGAACCCGACTTCCATCCTTACGGAGACCCAACCAAGACCCTGGGTTAACAGTGGCTGAAGAGGCCAGGAAGACGTCTTGGAACAGCCATTCTAAGCCCCCCTGGGAGCCCAGGATGGGACATTCTCAGCCCCAGCAAAGGGCTGAGGACTCTTGATCCTCCATCTCACAGCTTCTTATATACTCAACTAACCAGCCTTAAACAATCAAGA... | ACACAGCACCTGAGGACACAGCCAGGGCGAGGGATTTAGAGGTACACTGTTGTCCCCAGAGCAATTGAAAAGCAGACAGAAAATTACTATTTGGCCTCCTGAAGAGACACGAACCCGACTTCCATCCTTACGGAGACCCAACCAAGACCCTGGGTTAACAGTGGCTGAAGAGGCCAGGAAGACGTCTTGGAACAGCCATTCTAAGCCCCCCTGGGAGCCCAGGATGGGACATTCTCAGCCCCAGCAAAGGGCTGAGGACTCTTGATCCTCCATCTCACAGCTTCTTATATACTCAACTAACCAGCCTTAAACAATCAAGA... | pathogenic | 282,584 |
Does the genetic variant at chromosome 17, position 65537786, impacting gene AXIN2 (axin 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Oligodontia-cancer_predisposition_syndrome'] | GGCGAGGGATTTAGAGGTACACTGTTGTCCCCAGAGCAATTGAAAAGCAGACAGAAAATTACTATTTGGCCTCCTGAAGAGACACGAACCCGACTTCCATCCTTACGGAGACCCAACCAAGACCCTGGGTTAACAGTGGCTGAAGAGGCCAGGAAGACGTCTTGGAACAGCCATTCTAAGCCCCCCTGGGAGCCCAGGATGGGACATTCTCAGCCCCAGCAAAGGGCTGAGGACTCTTGATCCTCCATCTCACAGCTTCTTATATACTCAACTAACCAGCCTTAAACAATCAAGACATTTGTAAGGAATGGGATTTGTAA... | GGCGAGGGATTTAGAGGTACACTGTTGTCCCCAGAGCAATTGAAAAGCAGACAGAAAATTACTATTTGGCCTCCTGAAGAGACACGAACCCGACTTCCATCCTTACGGAGACCCAACCAAGACCCTGGGTTAACAGTGGCTGAAGAGGCCAGGAAGACGTCTTGGAACAGCCATTCTAAGCCCCCCTGGGAGCCCAGGATGGGACATTCTCAGCCCCAGCAAAGGGCTGAGGACTCTTGATCCTCCATCTCACAGCTTCTTATATACTCAACTAACCAGCCTTAAACAATCAAGACATTTGTAAGGAATGGGATTTGTAA... | pathogenic | 282,600 |
Mutation at chromosome 17, position 65537820, within AXIN2 (axin 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Oligodontia-cancer_predisposition_syndrome'] | AGCAATTGAAAAGCAGACAGAAAATTACTATTTGGCCTCCTGAAGAGACACGAACCCGACTTCCATCCTTACGGAGACCCAACCAAGACCCTGGGTTAACAGTGGCTGAAGAGGCCAGGAAGACGTCTTGGAACAGCCATTCTAAGCCCCCCTGGGAGCCCAGGATGGGACATTCTCAGCCCCAGCAAAGGGCTGAGGACTCTTGATCCTCCATCTCACAGCTTCTTATATACTCAACTAACCAGCCTTAAACAATCAAGACATTTGTAAGGAATGGGATTTGTAAGCAATTGCTGAAATTCATTCTCCCAATTCTAGGC... | AGCAATTGAAAAGCAGACAGAAAATTACTATTTGGCCTCCTGAAGAGACACGAACCCGACTTCCATCCTTACGGAGACCCAACCAAGACCCTGGGTTAACAGTGGCTGAAGAGGCCAGGAAGACGTCTTGGAACAGCCATTCTAAGCCCCCCTGGGAGCCCAGGATGGGACATTCTCAGCCCCAGCAAAGGGCTGAGGACTCTTGATCCTCCATCTCACAGCTTCTTATATACTCAACTAACCAGCCTTAAACAATCAAGACATTTGTAAGGAATGGGATTTGTAAGCAATTGCTGAAATTCATTCTCCCAATTCTAGGC... | pathogenic | 282,616 |
Considering the genetic mutation at chromosome 17, position 65537852, impacting AXIN2 (axin 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TGGCCTCCTGAAGAGACACGAACCCGACTTCCATCCTTACGGAGACCCAACCAAGACCCTGGGTTAACAGTGGCTGAAGAGGCCAGGAAGACGTCTTGGAACAGCCATTCTAAGCCCCCCTGGGAGCCCAGGATGGGACATTCTCAGCCCCAGCAAAGGGCTGAGGACTCTTGATCCTCCATCTCACAGCTTCTTATATACTCAACTAACCAGCCTTAAACAATCAAGACATTTGTAAGGAATGGGATTTGTAAGCAATTGCTGAAATTCATTCTCCCAATTCTAGGCATGACTTGCCTCACAGATCCTGGCTTAACTCT... | TGGCCTCCTGAAGAGACACGAACCCGACTTCCATCCTTACGGAGACCCAACCAAGACCCTGGGTTAACAGTGGCTGAAGAGGCCAGGAAGACGTCTTGGAACAGCCATTCTAAGCCCCCCTGGGAGCCCAGGATGGGACATTCTCAGCCCCAGCAAAGGGCTGAGGACTCTTGATCCTCCATCTCACAGCTTCTTATATACTCAACTAACCAGCCTTAAACAATCAAGACATTTGTAAGGAATGGGATTTGTAAGCAATTGCTGAAATTCATTCTCCCAATTCTAGGCATGACTTGCCTCACAGATCCTGGCTTAACTCT... | benign | 282,624 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 65538184, gene AXIN2 (axin 2): what disease(s) if pathogenic? | benign | ATAACTGAAGGGAACAATTTCTAGAAGCTGGAAAGCAGCAGCTTACTCATCCATAAGTAATTCTTCTTCTCATGGGAGGGTTTGAGACCCAGGCAGAAAGAGAGGCCCTCCCCATTAGCCACAGACCAGGTCTCCACCCAAACCCAATCCCTGCCTCAACCTAGGACCCTTCACTTCCACTCACCGCTGCTTTGGGGGCTTCGACACCTCAGCTAGCCTGCGACAGGCCTCCTCCAGCTGAGCCAGCGTGTTGGGTGGGGTCAGGGGAGGCATCGCAGGGTCCTGGGTGAACAGGTGGGCACGGGGGGTGGTGCGGGGGT... | ATAACTGAAGGGAACAATTTCTAGAAGCTGGAAAGCAGCAGCTTACTCATCCATAAGTAATTCTTCTTCTCATGGGAGGGTTTGAGACCCAGGCAGAAAGAGAGGCCCTCCCCATTAGCCACAGACCAGGTCTCCACCCAAACCCAATCCCTGCCTCAACCTAGGACCCTTCACTTCCACTCACCGCTGCTTTGGGGGCTTCGACACCTCAGCTAGCCTGCGACAGGCCTCCTCCAGCTGAGCCAGCGTGTTGGGTGGGGTCAGGGGAGGCATCGCAGGGTCCTGGGTGAACAGGTGGGCACGGGGGGTGGTGCGGGGGT... | benign | 282,634 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 65538348, gene AXIN2 (axin 2). What disease(s) is it linked to if pathogenic? | benign | GACCCTTCACTTCCACTCACCGCTGCTTTGGGGGCTTCGACACCTCAGCTAGCCTGCGACAGGCCTCCTCCAGCTGAGCCAGCGTGTTGGGTGGGGTCAGGGGAGGCATCGCAGGGTCCTGGGTGAACAGGTGGGCACGGGGGGTGGTGCGGGGGTGCCCGCTGTTGCCCCCCCACAGATGGTGCCGGCTGGCTCGTTCGCCTGGAGACGAGCGGGCAGACTCCAAGGGGTAGGCCTTTTTTGTGCTTTGGGCACTAAACAAGGAATGAGCAGAGAGAAAACAGAAGGAAAGAAACTGGGTTAGAAGAACTGGAAAATGT... | GACCCTTCACTTCCACTCACCGCTGCTTTGGGGGCTTCGACACCTCAGCTAGCCTGCGACAGGCCTCCTCCAGCTGAGCCAGCGTGTTGGGTGGGGTCAGGGGAGGCATCGCAGGGTCCTGGGTGAACAGGTGGGCACGGGGGGTGGTGCGGGGGTGCCCGCTGTTGCCCCCCCACAGATGGTGCCGGCTGGCTCGTTCGCCTGGAGACGAGCGGGCAGACTCCAAGGGGTAGGCCTTTTTTGTGCTTTGGGCACTAAACAAGGAATGAGCAGAGAGAAAACAGAAGGAAAGAAACTGGGTTAGAAGAACTGGAAAATGT... | benign | 282,691 |
Assess the variant on chromosome 17, position 65538354, impacting AXIN2 (axin 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TCACTTCCACTCACCGCTGCTTTGGGGGCTTCGACACCTCAGCTAGCCTGCGACAGGCCTCCTCCAGCTGAGCCAGCGTGTTGGGTGGGGTCAGGGGAGGCATCGCAGGGTCCTGGGTGAACAGGTGGGCACGGGGGGTGGTGCGGGGGTGCCCGCTGTTGCCCCCCCACAGATGGTGCCGGCTGGCTCGTTCGCCTGGAGACGAGCGGGCAGACTCCAAGGGGTAGGCCTTTTTTGTGCTTTGGGCACTAAACAAGGAATGAGCAGAGAGAAAACAGAAGGAAAGAAACTGGGTTAGAAGAACTGGAAAATGTGACTTC... | TCACTTCCACTCACCGCTGCTTTGGGGGCTTCGACACCTCAGCTAGCCTGCGACAGGCCTCCTCCAGCTGAGCCAGCGTGTTGGGTGGGGTCAGGGGAGGCATCGCAGGGTCCTGGGTGAACAGGTGGGCACGGGGGGTGGTGCGGGGGTGCCCGCTGTTGCCCCCCCACAGATGGTGCCGGCTGGCTCGTTCGCCTGGAGACGAGCGGGCAGACTCCAAGGGGTAGGCCTTTTTTGTGCTTTGGGCACTAAACAAGGAATGAGCAGAGAGAAAACAGAAGGAAAGAAACTGGGTTAGAAGAACTGGAAAATGTGACTTC... | benign | 282,694 |
Clinical significance of chromosome 17, position 65541445, gene AXIN2 (axin 2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | ACAGGCTGGCTCCTTGCAGCCCCTGATCAAAGCGCTGCCTGATGGAGAAAGTCGATTTGCACACCCCAGGACAAAATCATCTAATTTACAAGCTTGGGCGATAGAACTTTTCTTTGTTAACTCACATATCCCCCAGTCAAAAAAACAATGATAGTATGTCATCAATACTTGTTATCTGTAGAGGGAGGGGATGCTAGAGGTCCTCAGAAAAGCAATTTTAATATGCTAATTTTAAAACAAGGTAAGTCTGCCCTTGTCTGTGTGAGGAGCTTTCAGAGAAGAGCTATAGTTTGTGCACTAATGCAACATGGGTTTAGCAA... | ACAGGCTGGCTCCTTGCAGCCCCTGATCAAAGCGCTGCCTGATGGAGAAAGTCGATTTGCACACCCCAGGACAAAATCATCTAATTTACAAGCTTGGGCGATAGAACTTTTCTTTGTTAACTCACATATCCCCCAGTCAAAAAAACAATGATAGTATGTCATCAATACTTGTTATCTGTAGAGGGAGGGGATGCTAGAGGTCCTCAGAAAAGCAATTTTAATATGCTAATTTTAAAACAAGGTAAGTCTGCCCTTGTCTGTGTGAGGAGCTTTCAGAGAAGAGCTATAGTTTGTGCACTAATGCAACATGGGTTTAGCAA... | benign | 282,701 |
Gene AXIN2 (axin 2) variant at chromosome position 65541528 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATTTACAAGCTTGGGCGATAGAACTTTTCTTTGTTAACTCACATATCCCCCAGTCAAAAAAACAATGATAGTATGTCATCAATACTTGTTATCTGTAGAGGGAGGGGATGCTAGAGGTCCTCAGAAAAGCAATTTTAATATGCTAATTTTAAAACAAGGTAAGTCTGCCCTTGTCTGTGTGAGGAGCTTTCAGAGAAGAGCTATAGTTTGTGCACTAATGCAACATGGGTTTAGCAATTCAATGTGTTAATTTTTTAAACACAACATAACCAGACCAATTAGATTCTCTGAAGCTGGCAGGAAGGATTCATAAACACCTG... | ATTTACAAGCTTGGGCGATAGAACTTTTCTTTGTTAACTCACATATCCCCCAGTCAAAAAAACAATGATAGTATGTCATCAATACTTGTTATCTGTAGAGGGAGGGGATGCTAGAGGTCCTCAGAAAAGCAATTTTAATATGCTAATTTTAAAACAAGGTAAGTCTGCCCTTGTCTGTGTGAGGAGCTTTCAGAGAAGAGCTATAGTTTGTGCACTAATGCAACATGGGTTTAGCAATTCAATGTGTTAATTTTTTAAACACAACATAACCAGACCAATTAGATTCTCTGAAGCTGGCAGGAAGGATTCATAAACACCTG... | benign | 282,714 |
Gene mutation in AXIN2 (axin 2) at chromosome 17, position 65541540—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Colorectal_cancer', 'Oligodontia-cancer_predisposition_syndrome'] | GGGCGATAGAACTTTTCTTTGTTAACTCACATATCCCCCAGTCAAAAAAACAATGATAGTATGTCATCAATACTTGTTATCTGTAGAGGGAGGGGATGCTAGAGGTCCTCAGAAAAGCAATTTTAATATGCTAATTTTAAAACAAGGTAAGTCTGCCCTTGTCTGTGTGAGGAGCTTTCAGAGAAGAGCTATAGTTTGTGCACTAATGCAACATGGGTTTAGCAATTCAATGTGTTAATTTTTTAAACACAACATAACCAGACCAATTAGATTCTCTGAAGCTGGCAGGAAGGATTCATAAACACCTGCTGTGAGCTGGG... | GGGCGATAGAACTTTTCTTTGTTAACTCACATATCCCCCAGTCAAAAAAACAATGATAGTATGTCATCAATACTTGTTATCTGTAGAGGGAGGGGATGCTAGAGGTCCTCAGAAAAGCAATTTTAATATGCTAATTTTAAAACAAGGTAAGTCTGCCCTTGTCTGTGTGAGGAGCTTTCAGAGAAGAGCTATAGTTTGTGCACTAATGCAACATGGGTTTAGCAATTCAATGTGTTAATTTTTTAAACACAACATAACCAGACCAATTAGATTCTCTGAAGCTGGCAGGAAGGATTCATAAACACCTGCTGTGAGCTGGG... | pathogenic | 282,717 |
The mutation impacting AXIN2 (axin 2) on chromosome 17 at position 65541566: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCACATATCCCCCAGTCAAAAAAACAATGATAGTATGTCATCAATACTTGTTATCTGTAGAGGGAGGGGATGCTAGAGGTCCTCAGAAAAGCAATTTTAATATGCTAATTTTAAAACAAGGTAAGTCTGCCCTTGTCTGTGTGAGGAGCTTTCAGAGAAGAGCTATAGTTTGTGCACTAATGCAACATGGGTTTAGCAATTCAATGTGTTAATTTTTTAAACACAACATAACCAGACCAATTAGATTCTCTGAAGCTGGCAGGAAGGATTCATAAACACCTGCTGTGAGCTGGGTGCTTTCTTCCCCTCCCCTCCTTGCA... | TCACATATCCCCCAGTCAAAAAAACAATGATAGTATGTCATCAATACTTGTTATCTGTAGAGGGAGGGGATGCTAGAGGTCCTCAGAAAAGCAATTTTAATATGCTAATTTTAAAACAAGGTAAGTCTGCCCTTGTCTGTGTGAGGAGCTTTCAGAGAAGAGCTATAGTTTGTGCACTAATGCAACATGGGTTTAGCAATTCAATGTGTTAATTTTTTAAACACAACATAACCAGACCAATTAGATTCTCTGAAGCTGGCAGGAAGGATTCATAAACACCTGCTGTGAGCTGGGTGCTTTCTTCCCCTCCCCTCCTTGCA... | benign | 282,721 |
A genetic alteration at chromosome 17, position 65541574, in gene AXIN2 (axin 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CCCCCAGTCAAAAAAACAATGATAGTATGTCATCAATACTTGTTATCTGTAGAGGGAGGGGATGCTAGAGGTCCTCAGAAAAGCAATTTTAATATGCTAATTTTAAAACAAGGTAAGTCTGCCCTTGTCTGTGTGAGGAGCTTTCAGAGAAGAGCTATAGTTTGTGCACTAATGCAACATGGGTTTAGCAATTCAATGTGTTAATTTTTTAAACACAACATAACCAGACCAATTAGATTCTCTGAAGCTGGCAGGAAGGATTCATAAACACCTGCTGTGAGCTGGGTGCTTTCTTCCCCTCCCCTCCTTGCAACCTGGAT... | CCCCCAGTCAAAAAAACAATGATAGTATGTCATCAATACTTGTTATCTGTAGAGGGAGGGGATGCTAGAGGTCCTCAGAAAAGCAATTTTAATATGCTAATTTTAAAACAAGGTAAGTCTGCCCTTGTCTGTGTGAGGAGCTTTCAGAGAAGAGCTATAGTTTGTGCACTAATGCAACATGGGTTTAGCAATTCAATGTGTTAATTTTTTAAACACAACATAACCAGACCAATTAGATTCTCTGAAGCTGGCAGGAAGGATTCATAAACACCTGCTGTGAGCTGGGTGCTTTCTTCCCCTCCCCTCCTTGCAACCTGGAT... | benign | 282,726 |
Determine if the mutation at chromosome 17, position 65557795 in gene AXIN2 (axin 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TTTGAATAAGGAGTCAGCAGACCTTTCCATACACTGTGCACACACTCGAATATCTTGCACGTTAAAATGATGTGAGATCATCTGGCTATGTCTTAAATTCTCTTTAAATATGCCCAGTTAAGACATATGAGCTTCAGAGAGTCCTTTAAGATGCTTCATCTCAACCCAACAGTGGGAGAAGGCACACGTGAATCTCGTATGGAAACTCTCAGGTCAATGACAAGCTGTCACCTCTTTATCAGTGATGTCCACGGTTCACAGCCAAGAAGGCAGCCCTGGAAAACAGGAGCTTCTGTCCCTGCCTTCTGGATCTCAAAAGC... | TTTGAATAAGGAGTCAGCAGACCTTTCCATACACTGTGCACACACTCGAATATCTTGCACGTTAAAATGATGTGAGATCATCTGGCTATGTCTTAAATTCTCTTTAAATATGCCCAGTTAAGACATATGAGCTTCAGAGAGTCCTTTAAGATGCTTCATCTCAACCCAACAGTGGGAGAAGGCACACGTGAATCTCGTATGGAAACTCTCAGGTCAATGACAAGCTGTCACCTCTTTATCAGTGATGTCCACGGTTCACAGCCAAGAAGGCAGCCCTGGAAAACAGGAGCTTCTGTCCCTGCCTTCTGGATCTCAAAAGC... | benign | 282,769 |
Classify the chromosome 17 variant at position 65557801 affecting gene AXIN2 (axin 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TAAGGAGTCAGCAGACCTTTCCATACACTGTGCACACACTCGAATATCTTGCACGTTAAAATGATGTGAGATCATCTGGCTATGTCTTAAATTCTCTTTAAATATGCCCAGTTAAGACATATGAGCTTCAGAGAGTCCTTTAAGATGCTTCATCTCAACCCAACAGTGGGAGAAGGCACACGTGAATCTCGTATGGAAACTCTCAGGTCAATGACAAGCTGTCACCTCTTTATCAGTGATGTCCACGGTTCACAGCCAAGAAGGCAGCCCTGGAAAACAGGAGCTTCTGTCCCTGCCTTCTGGATCTCAAAAGCTTCATG... | TAAGGAGTCAGCAGACCTTTCCATACACTGTGCACACACTCGAATATCTTGCACGTTAAAATGATGTGAGATCATCTGGCTATGTCTTAAATTCTCTTTAAATATGCCCAGTTAAGACATATGAGCTTCAGAGAGTCCTTTAAGATGCTTCATCTCAACCCAACAGTGGGAGAAGGCACACGTGAATCTCGTATGGAAACTCTCAGGTCAATGACAAGCTGTCACCTCTTTATCAGTGATGTCCACGGTTCACAGCCAAGAAGGCAGCCCTGGAAAACAGGAGCTTCTGTCCCTGCCTTCTGGATCTCAAAAGCTTCATG... | benign | 282,772 |
Located at chromosome 17 position 65557819, the variant affecting gene AXIN2 (axin 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Oligodontia-cancer_predisposition_syndrome'] | TTCCATACACTGTGCACACACTCGAATATCTTGCACGTTAAAATGATGTGAGATCATCTGGCTATGTCTTAAATTCTCTTTAAATATGCCCAGTTAAGACATATGAGCTTCAGAGAGTCCTTTAAGATGCTTCATCTCAACCCAACAGTGGGAGAAGGCACACGTGAATCTCGTATGGAAACTCTCAGGTCAATGACAAGCTGTCACCTCTTTATCAGTGATGTCCACGGTTCACAGCCAAGAAGGCAGCCCTGGAAAACAGGAGCTTCTGTCCCTGCCTTCTGGATCTCAAAAGCTTCATGAGTTGCATCCTGGTAATA... | TTCCATACACTGTGCACACACTCGAATATCTTGCACGTTAAAATGATGTGAGATCATCTGGCTATGTCTTAAATTCTCTTTAAATATGCCCAGTTAAGACATATGAGCTTCAGAGAGTCCTTTAAGATGCTTCATCTCAACCCAACAGTGGGAGAAGGCACACGTGAATCTCGTATGGAAACTCTCAGGTCAATGACAAGCTGTCACCTCTTTATCAGTGATGTCCACGGTTCACAGCCAAGAAGGCAGCCCTGGAAAACAGGAGCTTCTGTCCCTGCCTTCTGGATCTCAAAAGCTTCATGAGTTGCATCCTGGTAATA... | pathogenic | 282,777 |
Determine if the mutation at chromosome 17, position 65557856 in gene AXIN2 (axin 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Oligodontia-cancer_predisposition_syndrome'] | TTAAAATGATGTGAGATCATCTGGCTATGTCTTAAATTCTCTTTAAATATGCCCAGTTAAGACATATGAGCTTCAGAGAGTCCTTTAAGATGCTTCATCTCAACCCAACAGTGGGAGAAGGCACACGTGAATCTCGTATGGAAACTCTCAGGTCAATGACAAGCTGTCACCTCTTTATCAGTGATGTCCACGGTTCACAGCCAAGAAGGCAGCCCTGGAAAACAGGAGCTTCTGTCCCTGCCTTCTGGATCTCAAAAGCTTCATGAGTTGCATCCTGGTAATATCCCAGATGAGGCAAGCCCAGGCTGAGTCGCAACTGC... | TTAAAATGATGTGAGATCATCTGGCTATGTCTTAAATTCTCTTTAAATATGCCCAGTTAAGACATATGAGCTTCAGAGAGTCCTTTAAGATGCTTCATCTCAACCCAACAGTGGGAGAAGGCACACGTGAATCTCGTATGGAAACTCTCAGGTCAATGACAAGCTGTCACCTCTTTATCAGTGATGTCCACGGTTCACAGCCAAGAAGGCAGCCCTGGAAAACAGGAGCTTCTGTCCCTGCCTTCTGGATCTCAAAAGCTTCATGAGTTGCATCCTGGTAATATCCCAGATGAGGCAAGCCCAGGCTGAGTCGCAACTGC... | pathogenic | 282,787 |
The chromosome 17, position 65557889 genetic variant in gene AXIN2 (axin 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Oligodontia-cancer_predisposition_syndrome'] | AAATTCTCTTTAAATATGCCCAGTTAAGACATATGAGCTTCAGAGAGTCCTTTAAGATGCTTCATCTCAACCCAACAGTGGGAGAAGGCACACGTGAATCTCGTATGGAAACTCTCAGGTCAATGACAAGCTGTCACCTCTTTATCAGTGATGTCCACGGTTCACAGCCAAGAAGGCAGCCCTGGAAAACAGGAGCTTCTGTCCCTGCCTTCTGGATCTCAAAAGCTTCATGAGTTGCATCCTGGTAATATCCCAGATGAGGCAAGCCCAGGCTGAGTCGCAACTGCCCACCCACAAAGGGGAGGGTTCACAGCAGAGCC... | AAATTCTCTTTAAATATGCCCAGTTAAGACATATGAGCTTCAGAGAGTCCTTTAAGATGCTTCATCTCAACCCAACAGTGGGAGAAGGCACACGTGAATCTCGTATGGAAACTCTCAGGTCAATGACAAGCTGTCACCTCTTTATCAGTGATGTCCACGGTTCACAGCCAAGAAGGCAGCCCTGGAAAACAGGAGCTTCTGTCCCTGCCTTCTGGATCTCAAAAGCTTCATGAGTTGCATCCTGGTAATATCCCAGATGAGGCAAGCCCAGGCTGAGTCGCAACTGCCCACCCACAAAGGGGAGGGTTCACAGCAGAGCC... | pathogenic | 282,795 |
Evaluate the clinical significance of the mutation at chromosome 17, position 65557890 in gene AXIN2 (axin 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Oligodontia-cancer_predisposition_syndrome'] | AATTCTCTTTAAATATGCCCAGTTAAGACATATGAGCTTCAGAGAGTCCTTTAAGATGCTTCATCTCAACCCAACAGTGGGAGAAGGCACACGTGAATCTCGTATGGAAACTCTCAGGTCAATGACAAGCTGTCACCTCTTTATCAGTGATGTCCACGGTTCACAGCCAAGAAGGCAGCCCTGGAAAACAGGAGCTTCTGTCCCTGCCTTCTGGATCTCAAAAGCTTCATGAGTTGCATCCTGGTAATATCCCAGATGAGGCAAGCCCAGGCTGAGTCGCAACTGCCCACCCACAAAGGGGAGGGTTCACAGCAGAGCCC... | AATTCTCTTTAAATATGCCCAGTTAAGACATATGAGCTTCAGAGAGTCCTTTAAGATGCTTCATCTCAACCCAACAGTGGGAGAAGGCACACGTGAATCTCGTATGGAAACTCTCAGGTCAATGACAAGCTGTCACCTCTTTATCAGTGATGTCCACGGTTCACAGCCAAGAAGGCAGCCCTGGAAAACAGGAGCTTCTGTCCCTGCCTTCTGGATCTCAAAAGCTTCATGAGTTGCATCCTGGTAATATCCCAGATGAGGCAAGCCCAGGCTGAGTCGCAACTGCCCACCCACAAAGGGGAGGGTTCACAGCAGAGCCC... | pathogenic | 282,796 |
For chromosome 17, position 65558297, gene AXIN2 (axin 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Oligodontia-cancer_predisposition_syndrome'] | GTCAGGAGGCCCCTGGAGAAGCAGCCTTTACCACGGCTCTTAAGTAGTCTCAGCTCTGGCTGCCAGGCTAGAGGGCAAGGAGGCCAGCGCCAGAGGCTTACCCAAATGGTCTCATAATGGGGCGGGCAGGCGTAGCAGGTGCCCGGCGACTGACCTACTGCAGAGGCCAGACCCAGGATCTTCCTCCCAGACAACTTGACTCCACAAGCATAAAGACACTGAAACACCTCCCTGGAACCTGTGTTTCCTTGCAAAAGTCAACCTGGTTCCACTTAGGTGTAGACCAGATGTCTGAGTAAAACTGGTTCCCAAGCCACAAG... | GTCAGGAGGCCCCTGGAGAAGCAGCCTTTACCACGGCTCTTAAGTAGTCTCAGCTCTGGCTGCCAGGCTAGAGGGCAAGGAGGCCAGCGCCAGAGGCTTACCCAAATGGTCTCATAATGGGGCGGGCAGGCGTAGCAGGTGCCCGGCGACTGACCTACTGCAGAGGCCAGACCCAGGATCTTCCTCCCAGACAACTTGACTCCACAAGCATAAAGACACTGAAACACCTCCCTGGAACCTGTGTTTCCTTGCAAAAGTCAACCTGGTTCCACTTAGGTGTAGACCAGATGTCTGAGTAAAACTGGTTCCCAAGCCACAAG... | pathogenic | 282,888 |
Regarding the variant at chromosome 17 and position 65558336, affecting gene AXIN2 (axin 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Oligodontia-cancer_predisposition_syndrome'] | TTAAGTAGTCTCAGCTCTGGCTGCCAGGCTAGAGGGCAAGGAGGCCAGCGCCAGAGGCTTACCCAAATGGTCTCATAATGGGGCGGGCAGGCGTAGCAGGTGCCCGGCGACTGACCTACTGCAGAGGCCAGACCCAGGATCTTCCTCCCAGACAACTTGACTCCACAAGCATAAAGACACTGAAACACCTCCCTGGAACCTGTGTTTCCTTGCAAAAGTCAACCTGGTTCCACTTAGGTGTAGACCAGATGTCTGAGTAAAACTGGTTCCCAAGCCACAAGCGCGCCCCCTGGTGGTTGGAGAACAAGCCCTTCCTCTCC... | TTAAGTAGTCTCAGCTCTGGCTGCCAGGCTAGAGGGCAAGGAGGCCAGCGCCAGAGGCTTACCCAAATGGTCTCATAATGGGGCGGGCAGGCGTAGCAGGTGCCCGGCGACTGACCTACTGCAGAGGCCAGACCCAGGATCTTCCTCCCAGACAACTTGACTCCACAAGCATAAAGACACTGAAACACCTCCCTGGAACCTGTGTTTCCTTGCAAAAGTCAACCTGGTTCCACTTAGGTGTAGACCAGATGTCTGAGTAAAACTGGTTCCCAAGCCACAAGCGCGCCCCCTGGTGGTTGGAGAACAAGCCCTTCCTCTCC... | pathogenic | 282,897 |
Clinical significance of chromosome 17, position 65558526, gene AXIN2 (axin 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer', 'Oligodontia-cancer_predisposition_syndrome'] | CCCTGGAACCTGTGTTTCCTTGCAAAAGTCAACCTGGTTCCACTTAGGTGTAGACCAGATGTCTGAGTAAAACTGGTTCCCAAGCCACAAGCGCGCCCCCTGGTGGTTGGAGAACAAGCCCTTCCTCTCCTCGCCAACAGTCAACTCTCTCTGCCGCCCCTAAAATCATGGCCCGCTAGGCTCAGACCTGGCCACCCTGAGAGGCTCAAGATCAACCATCTGGTGCCCACCTCTCTTCCTGCTGCTGGGCACTAGAGACCACATCCTACAGAGAAAGGGAAATCCAGAGGCAGCTATCAGACCGCATCCTGGGCCCCTAA... | CCCTGGAACCTGTGTTTCCTTGCAAAAGTCAACCTGGTTCCACTTAGGTGTAGACCAGATGTCTGAGTAAAACTGGTTCCCAAGCCACAAGCGCGCCCCCTGGTGGTTGGAGAACAAGCCCTTCCTCTCCTCGCCAACAGTCAACTCTCTCTGCCGCCCCTAAAATCATGGCCCGCTAGGCTCAGACCTGGCCACCCTGAGAGGCTCAAGATCAACCATCTGGTGCCCACCTCTCTTCCTGCTGCTGGGCACTAGAGACCACATCCTACAGAGAAAGGGAAATCCAGAGGCAGCTATCAGACCGCATCCTGGGCCCCTAA... | pathogenic | 282,946 |
Clinical significance of chromosome 17, position 65558546, gene AXIN2 (axin 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Oligodontia-cancer_predisposition_syndrome'] | TGCAAAAGTCAACCTGGTTCCACTTAGGTGTAGACCAGATGTCTGAGTAAAACTGGTTCCCAAGCCACAAGCGCGCCCCCTGGTGGTTGGAGAACAAGCCCTTCCTCTCCTCGCCAACAGTCAACTCTCTCTGCCGCCCCTAAAATCATGGCCCGCTAGGCTCAGACCTGGCCACCCTGAGAGGCTCAAGATCAACCATCTGGTGCCCACCTCTCTTCCTGCTGCTGGGCACTAGAGACCACATCCTACAGAGAAAGGGAAATCCAGAGGCAGCTATCAGACCGCATCCTGGGCCCCTAACACACAGAGAAATTCACACA... | TGCAAAAGTCAACCTGGTTCCACTTAGGTGTAGACCAGATGTCTGAGTAAAACTGGTTCCCAAGCCACAAGCGCGCCCCCTGGTGGTTGGAGAACAAGCCCTTCCTCTCCTCGCCAACAGTCAACTCTCTCTGCCGCCCCTAAAATCATGGCCCGCTAGGCTCAGACCTGGCCACCCTGAGAGGCTCAAGATCAACCATCTGGTGCCCACCTCTCTTCCTGCTGCTGGGCACTAGAGACCACATCCTACAGAGAAAGGGAAATCCAGAGGCAGCTATCAGACCGCATCCTGGGCCCCTAACACACAGAGAAATTCACACA... | pathogenic | 282,951 |
Variant in gene AXIN2 (axin 2), located at chromosome 17 position 65558604: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Oligodontia-cancer_predisposition_syndrome'] | CCCAAGCCACAAGCGCGCCCCCTGGTGGTTGGAGAACAAGCCCTTCCTCTCCTCGCCAACAGTCAACTCTCTCTGCCGCCCCTAAAATCATGGCCCGCTAGGCTCAGACCTGGCCACCCTGAGAGGCTCAAGATCAACCATCTGGTGCCCACCTCTCTTCCTGCTGCTGGGCACTAGAGACCACATCCTACAGAGAAAGGGAAATCCAGAGGCAGCTATCAGACCGCATCCTGGGCCCCTAACACACAGAGAAATTCACACAGAGAGCAAGATAAATCATTCAGAGAGCAGTCAAGTGCAGCCCCATCCCCTGCCTGTCA... | CCCAAGCCACAAGCGCGCCCCCTGGTGGTTGGAGAACAAGCCCTTCCTCTCCTCGCCAACAGTCAACTCTCTCTGCCGCCCCTAAAATCATGGCCCGCTAGGCTCAGACCTGGCCACCCTGAGAGGCTCAAGATCAACCATCTGGTGCCCACCTCTCTTCCTGCTGCTGGGCACTAGAGACCACATCCTACAGAGAAAGGGAAATCCAGAGGCAGCTATCAGACCGCATCCTGGGCCCCTAACACACAGAGAAATTCACACAGAGAGCAAGATAAATCATTCAGAGAGCAGTCAAGTGCAGCCCCATCCCCTGCCTGTCA... | pathogenic | 282,965 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 65558748, gene AXIN2 (axin 2): what disease(s) if pathogenic? | benign | GTGCCCACCTCTCTTCCTGCTGCTGGGCACTAGAGACCACATCCTACAGAGAAAGGGAAATCCAGAGGCAGCTATCAGACCGCATCCTGGGCCCCTAACACACAGAGAAATTCACACAGAGAGCAAGATAAATCATTCAGAGAGCAGTCAAGTGCAGCCCCATCCCCTGCCTGTCATAAAACCACACCCCGGAATTAAGAGGCTCATTCTCTTTTCGGATATTTGGAAGTCGGGAGGAGGGGAGAAAACAGAAAAACTCATTCTAACAAGAGGTCTGAAGTTGCCTCCAAAGGTCAAGAATCTTAAGACTTGGCCATTCT... | GTGCCCACCTCTCTTCCTGCTGCTGGGCACTAGAGACCACATCCTACAGAGAAAGGGAAATCCAGAGGCAGCTATCAGACCGCATCCTGGGCCCCTAACACACAGAGAAATTCACACAGAGAGCAAGATAAATCATTCAGAGAGCAGTCAAGTGCAGCCCCATCCCCTGCCTGTCATAAAACCACACCCCGGAATTAAGAGGCTCATTCTCTTTTCGGATATTTGGAAGTCGGGAGGAGGGGAGAAAACAGAAAAACTCATTCTAACAAGAGGTCTGAAGTTGCCTCCAAAGGTCAAGAATCTTAAGACTTGGCCATTCT... | benign | 282,973 |
The mutation impacting BPTF (bromodomain PHD finger transcription factor) on chromosome 17 at position 67825951: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGCTCAAGCGATTCTTCTGCCTCAGCCTCTGGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAACTTTTGTATTTTTAGTACAGAACTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGCCCTGGTGATCCGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCATCTTTTTTAAAAAAAATTGAGACAGGGTCTTGCTCTGTCACCCAAGCTGGAGTGCAGTGGTGCAATCACGGCTCACTGCAACATCCACCTCCCA... | GGCTCAAGCGATTCTTCTGCCTCAGCCTCTGGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAACTTTTGTATTTTTAGTACAGAACTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGCCCTGGTGATCCGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCATCTTTTTTAAAAAAAATTGAGACAGGGTCTTGCTCTGTCACCCAAGCTGGAGTGCAGTGGTGCAATCACGGCTCACTGCAACATCCACCTCCCA... | benign | 282,993 |
Classify the chromosome 17 variant at position 67825951 affecting gene BPTF (bromodomain PHD finger transcription factor) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GGCTCAAGCGATTCTTCTGCCTCAGCCTCTGGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAACTTTTGTATTTTTAGTACAGAACTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGCCCTGGTGATCCGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCATCTTTTTTAAAAAAAATTGAGACAGGGTCTTGCTCTGTCACCCAAGCTGGAGTGCAGTGGTGCAATCACGGCTCACTGCAACATCCACCTCCCA... | GGCTCAAGCGATTCTTCTGCCTCAGCCTCTGGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAACTTTTGTATTTTTAGTACAGAACTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGCCCTGGTGATCCGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCATCTTTTTTAAAAAAAATTGAGACAGGGTCTTGCTCTGTCACCCAAGCTGGAGTGCAGTGGTGCAATCACGGCTCACTGCAACATCCACCTCCCA... | benign | 282,994 |
Variant in gene BPTF (bromodomain PHD finger transcription factor), located at chromosome 17 position 67825971: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Neurodevelopmental_disorder_with_dysmorphic_facies_and_distal_limb_anomalies'] | CTCAGCCTCTGGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAACTTTTGTATTTTTAGTACAGAACTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGCCCTGGTGATCCGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCATCTTTTTTAAAAAAAATTGAGACAGGGTCTTGCTCTGTCACCCAAGCTGGAGTGCAGTGGTGCAATCACGGCTCACTGCAACATCCACCTCCCAGGCTCAAGCAATCCTCCCAC... | CTCAGCCTCTGGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAACTTTTGTATTTTTAGTACAGAACTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGCCCTGGTGATCCGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCATCTTTTTTAAAAAAAATTGAGACAGGGTCTTGCTCTGTCACCCAAGCTGGAGTGCAGTGGTGCAATCACGGCTCACTGCAACATCCACCTCCCAGGCTCAAGCAATCCTCCCAC... | pathogenic | 282,995 |
Clinical significance of chromosome 17, position 67826018, gene BPTF (bromodomain PHD finger transcription factor): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGCTAACTTTTGTATTTTTAGTACAGAACTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGCCCTGGTGATCCGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCATCTTTTTTAAAAAAAATTGAGACAGGGTCTTGCTCTGTCACCCAAGCTGGAGTGCAGTGGTGCAATCACGGCTCACTGCAACATCCACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCTCGCTAGCTGGGACCACAGGTGCACACCACCATGCCCG... | GGCTAACTTTTGTATTTTTAGTACAGAACTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGCCCTGGTGATCCGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCATCTTTTTTAAAAAAAATTGAGACAGGGTCTTGCTCTGTCACCCAAGCTGGAGTGCAGTGGTGCAATCACGGCTCACTGCAACATCCACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCTCGCTAGCTGGGACCACAGGTGCACACCACCATGCCCG... | benign | 282,997 |
Benign or pathogenic: chromosome 17, position 67826207, gene BPTF variant? Disease(s) if pathogenic? | benign | TGCTCTGTCACCCAAGCTGGAGTGCAGTGGTGCAATCACGGCTCACTGCAACATCCACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCTCGCTAGCTGGGACCACAGGTGCACACCACCATGCCCGGCTAATTTTTCAAATTTTTTCTAAAGACGAGGTCCTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGACCTCAAGCTATCATCCGGCCTTGGCCTCTCAAAGGACTGGGATTGCAGGTGTGAGCTACCACGCCCGGCCAACTATTTTTCTTTAAATTACTTTTCGGTTGTCACTTCTCTCAATAAATA... | TGCTCTGTCACCCAAGCTGGAGTGCAGTGGTGCAATCACGGCTCACTGCAACATCCACCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCTCGCTAGCTGGGACCACAGGTGCACACCACCATGCCCGGCTAATTTTTCAAATTTTTTCTAAAGACGAGGTCCTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGACCTCAAGCTATCATCCGGCCTTGGCCTCTCAAAGGACTGGGATTGCAGGTGTGAGCTACCACGCCCGGCCAACTATTTTTCTTTAAATTACTTTTCGGTTGTCACTTCTCTCAATAAATA... | benign | 282,998 |
Gene mutation in BPTF at chromosome 17, position 67826264—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCTCGCTAGCTGGGACCACAGGTGCACACCACCATGCCCGGCTAATTTTTCAAATTTTTTCTAAAGACGAGGTCCTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGACCTCAAGCTATCATCCGGCCTTGGCCTCTCAAAGGACTGGGATTGCAGGTGTGAGCTACCACGCCCGGCCAACTATTTTTCTTTAAATTACTTTTCGGTTGTCACTTCTCTCAATAAATATTCATATGTTTATAACACCTTTCTCTTATCTAAAGAGCTGACCTCAACCACTCAGGG... | CCTCCCAGGCTCAAGCAATCCTCCCACCTCAGCCTCTCGCTAGCTGGGACCACAGGTGCACACCACCATGCCCGGCTAATTTTTCAAATTTTTTCTAAAGACGAGGTCCTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGACCTCAAGCTATCATCCGGCCTTGGCCTCTCAAAGGACTGGGATTGCAGGTGTGAGCTACCACGCCCGGCCAACTATTTTTCTTTAAATTACTTTTCGGTTGTCACTTCTCTCAATAAATATTCATATGTTTATAACACCTTTCTCTTATCTAAAGAGCTGACCTCAACCACTCAGGG... | benign | 282,999 |
Clinically, how would you classify the variant at chromosome 17, position 67893655, gene BPTF (bromodomain PHD finger transcription factor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Inborn_genetic_diseases'] | CAGCATGTTTCAATTTTTTGTGGAATAATAGATGACTCACAGTAAAGTTACAACATATTTTCTTTTAAGTAAAAAACTTAAGGAATAATGATACTTGCTTTGCCATTCAAGGGCCTTTTTTTATCTGTTTACTTTGTGGATCTTACACATACACCAGATACGAGTTTTGGTGAAATAAGGTGGTTATAATTATTTACTTATTGTCAGCAATTGCTTTGTGGCCTATTCATTTGACAGTAGGTGATTTCAAATCGGAGAAGTCCAACGGGGAGCTAAGTGAATCTCCTGGAGCTGGAAAAGGAGCATCTGGCTCAACTCGA... | CAGCATGTTTCAATTTTTTGTGGAATAATAGATGACTCACAGTAAAGTTACAACATATTTTCTTTTAAGTAAAAAACTTAAGGAATAATGATACTTGCTTTGCCATTCAAGGGCCTTTTTTTATCTGTTTACTTTGTGGATCTTACACATACACCAGATACGAGTTTTGGTGAAATAAGGTGGTTATAATTATTTACTTATTGTCAGCAATTGCTTTGTGGCCTATTCATTTGACAGTAGGTGATTTCAAATCGGAGAAGTCCAACGGGGAGCTAAGTGAATCTCCTGGAGCTGGAAAAGGAGCATCTGGCTCAACTCGA... | pathogenic | 283,006 |
Is the genetic mutation found on chromosome 17 at position 67959642, within the gene BPTF (bromodomain PHD finger transcription factor), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTGTAAGTGGCTCATACCTGTCATCCCAGCACTTAGGGAGGCCCAGGCAGGCAGATCACTTGAGCTTAGGAGTTCAGTTACCTGAACAACACAGCAAGACTCCATCTCCTCAAAAAAATTAGCTGGGCATGGTAGTGAGCACCTGTAGCTACTTGAAGGGGTTGAGGTGGGAGGATCACTTGAGCCTGGCAGGTCAAGGCTACAGCAAGCCGTGTTTATGTCACTGCAGTCCAGGCAGGGTGACAAAGTGAGACACTGTCTCCACATAAGAAATACTCTTGGTCATAGCTATGATTTCTTTACACCAAGTTTGTTTGTGG... | GTGTAAGTGGCTCATACCTGTCATCCCAGCACTTAGGGAGGCCCAGGCAGGCAGATCACTTGAGCTTAGGAGTTCAGTTACCTGAACAACACAGCAAGACTCCATCTCCTCAAAAAAATTAGCTGGGCATGGTAGTGAGCACCTGTAGCTACTTGAAGGGGTTGAGGTGGGAGGATCACTTGAGCCTGGCAGGTCAAGGCTACAGCAAGCCGTGTTTATGTCACTGCAGTCCAGGCAGGGTGACAAAGTGAGACACTGTCTCCACATAAGAAATACTCTTGGTCATAGCTATGATTTCTTTACACCAAGTTTGTTTGTGG... | benign | 283,043 |
Chromosome 17, position 67959642, gene BPTF (bromodomain PHD finger transcription factor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GTGTAAGTGGCTCATACCTGTCATCCCAGCACTTAGGGAGGCCCAGGCAGGCAGATCACTTGAGCTTAGGAGTTCAGTTACCTGAACAACACAGCAAGACTCCATCTCCTCAAAAAAATTAGCTGGGCATGGTAGTGAGCACCTGTAGCTACTTGAAGGGGTTGAGGTGGGAGGATCACTTGAGCCTGGCAGGTCAAGGCTACAGCAAGCCGTGTTTATGTCACTGCAGTCCAGGCAGGGTGACAAAGTGAGACACTGTCTCCACATAAGAAATACTCTTGGTCATAGCTATGATTTCTTTACACCAAGTTTGTTTGTGG... | GTGTAAGTGGCTCATACCTGTCATCCCAGCACTTAGGGAGGCCCAGGCAGGCAGATCACTTGAGCTTAGGAGTTCAGTTACCTGAACAACACAGCAAGACTCCATCTCCTCAAAAAAATTAGCTGGGCATGGTAGTGAGCACCTGTAGCTACTTGAAGGGGTTGAGGTGGGAGGATCACTTGAGCCTGGCAGGTCAAGGCTACAGCAAGCCGTGTTTATGTCACTGCAGTCCAGGCAGGGTGACAAAGTGAGACACTGTCTCCACATAAGAAATACTCTTGGTCATAGCTATGATTTCTTTACACCAAGTTTGTTTGTGG... | benign | 283,044 |
Does the chromosome 17 mutation at position 68523716 within gene PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TAGGTTACATATTCACATATTTCAAAGTTGTGCAGGTACAAAGGGGCATAATAATGAAAGGTCTCCCTCCCACGCCATTGCTTTTCTTGAATGCTGCCAATGTTCTGGAGATTAATATATGGGCACTTACAAATTTATATATAGAAAAGAAATAACGGGTCAAATGAATGAGAAAGTAGAAGATAACACATTTTTATTTTTTCCCTTTTACTTCAGGCACAACAACTAATTCTTTAGATCTGAGAGGAATTTGTTTTTAAGGCTCTAGATGTGAAAAAAGGAATGTTTAATAGTTTATCTTAGGTTTTATTTGAATTGGT... | TAGGTTACATATTCACATATTTCAAAGTTGTGCAGGTACAAAGGGGCATAATAATGAAAGGTCTCCCTCCCACGCCATTGCTTTTCTTGAATGCTGCCAATGTTCTGGAGATTAATATATGGGCACTTACAAATTTATATATAGAAAAGAAATAACGGGTCAAATGAATGAGAAAGTAGAAGATAACACATTTTTATTTTTTCCCTTTTACTTCAGGCACAACAACTAATTCTTTAGATCTGAGAGGAATTTGTTTTTAAGGCTCTAGATGTGAAAAAAGGAATGTTTAATAGTTTATCTTAGGTTTTATTTGAATTGGT... | benign | 283,144 |
A genetic variant on chromosome 17, position 68524063, affects the gene PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Carney_complex,_type_1', 'Hereditary_cancer-predisposing_syndrome'] | AACTCTTTTTGTCTTTTAACTTCAAGTTTAAACCTTGATTACAAAGAGTGATCCTAGCTCTGCTGGGAGAAGTATTATAGATACGATCTCGTTTAAATTCGTGGTTACCATCACATCATTTCATTATTTGTTTTTATCTGGGATCAAACTGGAATGTGAATTCCACAGGCTCAGGACCCTCTCCTATTTGTTTTTAATTTCCTGTTGCCTAGCATAGGTCTTGGCCTGGCAGATCCAGAAAATGGCTTATTGAGTTAATGAAATAACTCAGTAATCTAGACATTCTTGGATCACTATGTTGGGCTTGAATTGTTTTTCCT... | AACTCTTTTTGTCTTTTAACTTCAAGTTTAAACCTTGATTACAAAGAGTGATCCTAGCTCTGCTGGGAGAAGTATTATAGATACGATCTCGTTTAAATTCGTGGTTACCATCACATCATTTCATTATTTGTTTTTATCTGGGATCAAACTGGAATGTGAATTCCACAGGCTCAGGACCCTCTCCTATTTGTTTTTAATTTCCTGTTGCCTAGCATAGGTCTTGGCCTGGCAGATCCAGAAAATGGCTTATTGAGTTAATGAAATAACTCAGTAATCTAGACATTCTTGGATCACTATGTTGGGCTTGAATTGTTTTTCCT... | pathogenic | 283,163 |
Mutation found at chromosome 17 position 68524088, gene PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GTTTAAACCTTGATTACAAAGAGTGATCCTAGCTCTGCTGGGAGAAGTATTATAGATACGATCTCGTTTAAATTCGTGGTTACCATCACATCATTTCATTATTTGTTTTTATCTGGGATCAAACTGGAATGTGAATTCCACAGGCTCAGGACCCTCTCCTATTTGTTTTTAATTTCCTGTTGCCTAGCATAGGTCTTGGCCTGGCAGATCCAGAAAATGGCTTATTGAGTTAATGAAATAACTCAGTAATCTAGACATTCTTGGATCACTATGTTGGGCTTGAATTGTTTTTCCTGATAACATTTCTTTTGGCAGGAGGG... | GTTTAAACCTTGATTACAAAGAGTGATCCTAGCTCTGCTGGGAGAAGTATTATAGATACGATCTCGTTTAAATTCGTGGTTACCATCACATCATTTCATTATTTGTTTTTATCTGGGATCAAACTGGAATGTGAATTCCACAGGCTCAGGACCCTCTCCTATTTGTTTTTAATTTCCTGTTGCCTAGCATAGGTCTTGGCCTGGCAGATCCAGAAAATGGCTTATTGAGTTAATGAAATAACTCAGTAATCTAGACATTCTTGGATCACTATGTTGGGCTTGAATTGTTTTTCCTGATAACATTTCTTTTGGCAGGAGGG... | benign | 283,168 |
Considering the variant on chromosome 17, location 68524893, involving gene PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AGTGGTTAAAGGTAGGAGGCGACGAGGTGCTATCAGCGCTGAGGTCTACACGGAGGAAGATGCGGCATCCTATGTTAGAAAGGTAGTTTTGATATTTGAATATCGGGGGGATGCTTTTGGGACCCACTTGGTGGTCATCTAGTCTCCTTTGATGAATGAATCATAAAATACAAAACAGGGTGGAACTTCATCCATCCTGTACAATTCTTGGGTACTGGAAAACAGGTTTCTGTAATAGCATGCTGTCAGAGGAAATAACTAATAGTGATTATGAACTAGTGAATAATTGCATTTTGGGGTTTGTTATTTCCTTGCAGTTG... | AGTGGTTAAAGGTAGGAGGCGACGAGGTGCTATCAGCGCTGAGGTCTACACGGAGGAAGATGCGGCATCCTATGTTAGAAAGGTAGTTTTGATATTTGAATATCGGGGGGATGCTTTTGGGACCCACTTGGTGGTCATCTAGTCTCCTTTGATGAATGAATCATAAAATACAAAACAGGGTGGAACTTCATCCATCCTGTACAATTCTTGGGTACTGGAAAACAGGTTTCTGTAATAGCATGCTGTCAGAGGAAATAACTAATAGTGATTATGAACTAGTGAATAATTGCATTTTGGGGTTTGTTATTTCCTTGCAGTTG... | benign | 283,170 |
Does the genetic variant at chromosome 17, position 68525825, impacting gene PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Carney_complex', 'Carney_complex,_type_1'] | AGAATGTGCTGTTTTCACATCTTGATGATAATGAGAGAAGGTAGGAACAGGCTCTTTCTTAACACTATTTTTCAAGTAAGGGTGTGATCCCAAATTGTTTTCAACACTTGTTGCAAGTTTTAGAGCTCTTAGTAATTGTTCACCAGATGACAGTCTGGGGTCTTTAATTCTAAGCTTAATGTTTGAAATTCACGGAAGAGACATGTGAAATGTAACACGAGGCCTTCTCTCTTTTGCAGTGATATTTTTGATGCCATGTTTTCGGTCTCCTTTATCGCAGGAGAGACTGTGATTCAGCAAGGTAAGGGCCTCTGGAGCAT... | AGAATGTGCTGTTTTCACATCTTGATGATAATGAGAGAAGGTAGGAACAGGCTCTTTCTTAACACTATTTTTCAAGTAAGGGTGTGATCCCAAATTGTTTTCAACACTTGTTGCAAGTTTTAGAGCTCTTAGTAATTGTTCACCAGATGACAGTCTGGGGTCTTTAATTCTAAGCTTAATGTTTGAAATTCACGGAAGAGACATGTGAAATGTAACACGAGGCCTTCTCTCTTTTGCAGTGATATTTTTGATGCCATGTTTTCGGTCTCCTTTATCGCAGGAGAGACTGTGATTCAGCAAGGTAAGGGCCTCTGGAGCAT... | pathogenic | 283,189 |
Variant on chromosome 17, at position 68527823, affecting PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Acrodysostosis_1_with_or_without_hormone_resistance', 'CARNEY_COMPLEX,_TYPE_I', 'Carney_complex,_type_1', 'Familial_atrial_myxoma', 'Pigmented_nodular_adrenocortical_disease,_primary,_1'] | GCAACCAGTGTTGGGGAAGGAGGGAGCTTTGGAGAACTTGCTTTGATTTATGGAACACCGAGAGCAGCCACTGTCAAAGCAAAGACAAATGTGAAATTGTGGGGCATCGACCGAGACAGCTATAGAAGAATCCTCATGGTAAGAGACCATGGTGTTTGAGAGTGTGATTTAGAATTCTCATCTACGTAACTAATGTTTGAATATTACCAAATTAAAAAGAGAATATTTCTTTTAATGAGCAAATATTTCTTTCTTTTAATAAGCGAATATTTTTCTTTTAATGAGCAAATACTTTGCATTAAGCCCAGCTTAGCATTATT... | GCAACCAGTGTTGGGGAAGGAGGGAGCTTTGGAGAACTTGCTTTGATTTATGGAACACCGAGAGCAGCCACTGTCAAAGCAAAGACAAATGTGAAATTGTGGGGCATCGACCGAGACAGCTATAGAAGAATCCTCATGGTAAGAGACCATGGTGTTTGAGAGTGTGATTTAGAATTCTCATCTACGTAACTAATGTTTGAATATTACCAAATTAAAAAGAGAATATTTCTTTTAATGAGCAAATATTTCTTTCTTTTAATAAGCGAATATTTTTCTTTTAATGAGCAAATACTTTGCATTAAGCCCAGCTTAGCATTATT... | pathogenic | 283,201 |
Evaluate this variant at chromosome 17, position 68528910, gene PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Carney_complex,_type_1'] | CCTGTGACACCCAGTTTACCTATATAACCTGCACATGTACCCCTGAACCTTAAACCCACACACACAAAAAAACGCTTATGGCAAAGATAAGTCTAAATTTTAGAAAGATTGGTTTTGAAGTGATGTGACAGTCTACTGGAGAAGAAACTGACCATACAGTTAGTTCTGCATTTCCTCTACAGGAATACTATTAGTAAAAGGAAACATAGAATGTTTACAGCTTTATCTCATTGTCAAAGAAGGAAGAGGTAGGACCTGGAACTATTGGTTTGAAATAAAATATTTTACTTTCTCATAGTGGGCCTGAAAGGAAATTAGGG... | CCTGTGACACCCAGTTTACCTATATAACCTGCACATGTACCCCTGAACCTTAAACCCACACACACAAAAAAACGCTTATGGCAAAGATAAGTCTAAATTTTAGAAAGATTGGTTTTGAAGTGATGTGACAGTCTACTGGAGAAGAAACTGACCATACAGTTAGTTCTGCATTTCCTCTACAGGAATACTATTAGTAAAAGGAAACATAGAATGTTTACAGCTTTATCTCATTGTCAAAGAAGGAAGAGGTAGGACCTGGAACTATTGGTTTGAAATAAAATATTTTACTTTCTCATAGTGGGCCTGAAAGGAAATTAGGG... | pathogenic | 283,220 |
Considering the genetic mutation at chromosome 17, position 68529957, impacting PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Carney_complex,_type_1', 'Hereditary_cancer-predisposing_syndrome'] | TAAAGTGTGTTAACTTTGCTAGTATGTGAGATACCCCTGAATTAGAATTGGATGGACTTGGGAAAAGCCTTCTGAAAGTATAATTGCTACTCATTCCCCCTGAAAAGACAGAAGGGCTGAAAGTCCTTCTGACTGTGGACATTCACAGTTATTTCCTCTGTGACTTCCCGTCTCTCTTGTTCCATCATTGAGTTGATTGGTTCAGAAAAGTGAGTACTTCCAACAATACATTTCCTCTGTGGAAAGATTAGGTATCATTTGCTGGCATCCTCTGAAAACATGCCAGAAGTTTGTTGAAATTTAGAGTAAAGCAGATTAAT... | TAAAGTGTGTTAACTTTGCTAGTATGTGAGATACCCCTGAATTAGAATTGGATGGACTTGGGAAAAGCCTTCTGAAAGTATAATTGCTACTCATTCCCCCTGAAAAGACAGAAGGGCTGAAAGTCCTTCTGACTGTGGACATTCACAGTTATTTCCTCTGTGACTTCCCGTCTCTCTTGTTCCATCATTGAGTTGATTGGTTCAGAAAAGTGAGTACTTCCAACAATACATTTCCTCTGTGGAAAGATTAGGTATCATTTGCTGGCATCCTCTGAAAACATGCCAGAAGTTTGTTGAAATTTAGAGTAAAGCAGATTAAT... | pathogenic | 283,239 |
Mutation found at chromosome 17 position 68529981, gene PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Carney_complex,_type_1'] | TGTGAGATACCCCTGAATTAGAATTGGATGGACTTGGGAAAAGCCTTCTGAAAGTATAATTGCTACTCATTCCCCCTGAAAAGACAGAAGGGCTGAAAGTCCTTCTGACTGTGGACATTCACAGTTATTTCCTCTGTGACTTCCCGTCTCTCTTGTTCCATCATTGAGTTGATTGGTTCAGAAAAGTGAGTACTTCCAACAATACATTTCCTCTGTGGAAAGATTAGGTATCATTTGCTGGCATCCTCTGAAAACATGCCAGAAGTTTGTTGAAATTTAGAGTAAAGCAGATTAATTGAAGATATTCTTTTGTGCATTTT... | TGTGAGATACCCCTGAATTAGAATTGGATGGACTTGGGAAAAGCCTTCTGAAAGTATAATTGCTACTCATTCCCCCTGAAAAGACAGAAGGGCTGAAAGTCCTTCTGACTGTGGACATTCACAGTTATTTCCTCTGTGACTTCCCGTCTCTCTTGTTCCATCATTGAGTTGATTGGTTCAGAAAAGTGAGTACTTCCAACAATACATTTCCTCTGTGGAAAGATTAGGTATCATTTGCTGGCATCCTCTGAAAACATGCCAGAAGTTTGTTGAAATTTAGAGTAAAGCAGATTAATTGAAGATATTCTTTTGTGCATTTT... | pathogenic | 283,242 |
A genetic variant at chromosome 17, position 70174877, affecting gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TGTTGCTGTCTCTGTCTGTTTAGTAATGTGAGAAAACTAAGATGAAATAATTGCTTAAAAAATGCTGTCCATGTACAGGATCTAGAACTTCGAGGGGCAGGATTCTTGTTTCTTTGGTCCAAGTGCAAACTTCACAGGGAAGCAGACAAAACATTGAAGCAGGTGGAAGGTTAGGAAAGCACAGTAACTTCTTTTTATAAAGTAATTCAAAGGCACTTTCAAACTGAGCATCATTTAGGTGTCAAAAGCTGCCAAAATGTAACACACATTGCAATTTTCAAAGATGACTAATCTCAGGAAAAATGTGTTGGGGCACATTC... | TGTTGCTGTCTCTGTCTGTTTAGTAATGTGAGAAAACTAAGATGAAATAATTGCTTAAAAAATGCTGTCCATGTACAGGATCTAGAACTTCGAGGGGCAGGATTCTTGTTTCTTTGGTCCAAGTGCAAACTTCACAGGGAAGCAGACAAAACATTGAAGCAGGTGGAAGGTTAGGAAAGCACAGTAACTTCTTTTTATAAAGTAATTCAAAGGCACTTTCAAACTGAGCATCATTTAGGTGTCAAAAGCTGCCAAAATGTAACACACATTGCAATTTTCAAAGATGACTAATCTCAGGAAAAATGTGTTGGGGCACATTC... | benign | 283,353 |
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