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 |
|---|---|---|---|---|---|
Is the genetic mutation found on chromosome 17 at position 43119403, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCAC... | TCACTTGAATCCTGGAGGTGGAGGTTGCAGAGTGAGCCAATATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGGAAGACTCTGTCTCAAAAAAAAGAAAATAAGGCCAGACACGGGGGCTCATGCTTGTAATCCCAGCACTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGATTTCGAGACCAGCCTGGCCAACACAGTGAAACGCTGTCTCTACTAAAAATACCAAAACTAACTGGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATCGCTTGAACCGGGGAAGTGCAC... | benign | 276,276 |
Mutation found at chromosome 17 position 43122888, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GTGGATCACGAGATCAGGACTTCAAGACCAGCCTGACCAACGTGATGAAACCCTATCTCTACTAAAAATACAAAATTAGCCGGCCACGGTGGCGTGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAGCGCTTGAACTTGAACCTGGCAGGCGGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCAACCCCCCACCCCGAAAAAAAAAGGTCCAGGCCGGGCGCAGTGGCTCAGGACTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGGATCACAA... | GTGGATCACGAGATCAGGACTTCAAGACCAGCCTGACCAACGTGATGAAACCCTATCTCTACTAAAAATACAAAATTAGCCGGCCACGGTGGCGTGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAGCGCTTGAACTTGAACCTGGCAGGCGGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCAACCCCCCACCCCGAAAAAAAAAGGTCCAGGCCGGGCGCAGTGGCTCAGGACTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGGATCACAA... | benign | 276,292 |
Benign or pathogenic: chromosome 17, position 43123064, gene BRCA1 (BRCA1 DNA repair associated) variant? Disease(s) if pathogenic? | benign | GCCAAGATGGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCAACCCCCCACCCCGAAAAAAAAAGGTCCAGGCCGGGCGCAGTGGCTCAGGACTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCTTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCCTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATCGTGCCA... | GCCAAGATGGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCAACCCCCCACCCCGAAAAAAAAAGGTCCAGGCCGGGCGCAGTGGCTCAGGACTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCTTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCCTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCAAGATCGTGCCA... | benign | 276,294 |
Regarding the variant found on chromosome 17 at position 43124016 in gene BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGTGCTTTTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACT... | TTGTGCTTTTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACT... | pathogenic | 276,309 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43124021—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_4'] | CTTTTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAA... | CTTTTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAA... | pathogenic | 276,313 |
Regarding the variant at chromosome 17 and position 43124021, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTTTTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAA... | CTTTTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAA... | pathogenic | 276,314 |
The mutation impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17 at position 43124021: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | CTTTTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAA... | CTTTTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAA... | pathogenic | 276,315 |
A genetic variant on chromosome 17, position 43124023, affects the gene BRCA1 (BRCA1 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACC... | TTTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACC... | pathogenic | 276,317 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43124023 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | TTTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACC... | TTTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACC... | pathogenic | 276,318 |
Does the genetic variant at chromosome 17, position 43124024, impacting gene BRCA1 (BRCA1 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCA... | TTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCA... | pathogenic | 276,319 |
A mutation at chromosome position 43124024 on chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCA... | TTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCA... | pathogenic | 276,320 |
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43124025—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCAT... | TTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCAT... | pathogenic | 276,321 |
Variant at chromosome position 43124026, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATC... | TCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATC... | pathogenic | 276,322 |
Considering the variant on chromosome 17, location 43124026, involving gene BRCA1 (BRCA1 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATC... | TCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATC... | pathogenic | 276,323 |
Does the variant impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17, position 43124027, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCA... | CAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCA... | pathogenic | 276,325 |
Does the variant impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17, position 43124027, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_4'] | CAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCA... | CAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCA... | pathogenic | 276,326 |
Considering the variant on chromosome 17, location 43124027, involving gene BRCA1 (BRCA1 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['BRCA1-related_cancer_predisposition', 'BRCA1-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Endometrial_carcinoma', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary... | CAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCA... | CAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCA... | pathogenic | 276,330 |
Variant chromosome 17, position 43124028, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCAC... | AAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCAC... | pathogenic | 276,331 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43124028, gene BRCA1 (BRCA1 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCAC... | AAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCAC... | pathogenic | 276,333 |
Mutation at chromosome 17, position 43124029, within BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACC... | AAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACC... | pathogenic | 276,334 |
Is the genetic variant on chromosome 17, position 43124030, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['BRCA1-related_cancer_predisposition', 'BRCA1-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_carcinoma', 'Breast_neoplasm', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposi... | AAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCA... | AAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCA... | pathogenic | 276,335 |
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43124031—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | AGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCAT... | AGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCAT... | pathogenic | 276,337 |
The chromosome 17, position 43124031 genetic variant in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCAT... | AGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCAT... | pathogenic | 276,338 |
Classify the chromosome 17 variant at position 43124031 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | AGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCAT... | AGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCAT... | pathogenic | 276,339 |
The genetic variant at chromosome 17, position 43124031, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCAT... | AGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCAT... | pathogenic | 276,340 |
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43124034—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | AGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATT... | AGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATT... | pathogenic | 276,346 |
Considering the variant on chromosome 17, location 43124035, involving gene BRCA1 (BRCA1 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTT... | GTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTT... | pathogenic | 276,347 |
Clinical significance of chromosome 17, position 43124045, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTA... | ACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTA... | pathogenic | 276,353 |
The genetic variant at chromosome 17, position 43124046, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAA... | CAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAA... | pathogenic | 276,354 |
Considering the variant on chromosome 17, location 43124049, involving gene BRCA1 (BRCA1 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGA... | TGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGA... | pathogenic | 276,355 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43124051, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAAC... | TCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAAC... | pathogenic | 276,356 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome 17, position 43124051—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAAC... | TCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAAC... | pathogenic | 276,357 |
A mutation at chromosome position 43124055 on chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAAT... | TTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAAT... | pathogenic | 276,360 |
Is the genetic mutation found on chromosome 17 at position 43124056, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATT... | TCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATT... | pathogenic | 276,361 |
Clinical classification of chromosome 17, position 43124056, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATT... | TCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATT... | pathogenic | 276,362 |
Does the genetic variant at chromosome 17, position 43124057, impacting gene BRCA1 (BRCA1 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTT... | CCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTT... | pathogenic | 276,363 |
Chromosome 17, position 43124062, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTT... | TTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTT... | pathogenic | 276,365 |
Variant chromosome 17, position 43124064, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAG... | CTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAG... | pathogenic | 276,368 |
Chromosome 17, position 43124076, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTAT... | TTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTAT... | pathogenic | 276,370 |
Is the genetic change at chromosome 17, position 43124135, within gene BRCA1 (BRCA1 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACAT... | TGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACAT... | benign | 276,385 |
A genetic variant at chromosome 17, position 43124195, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGA... | CATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGTGGCAACTAGGTCCCAAGTACCGTTCTAACTACTGAACATACAGATGTATGTAAACAAAACAAAAATCCCATCCTGGAGTTTACATTCTGTGGGACTAGA... | benign | 276,386 |
Variant in BRCA1, chromosome 17, position 43124747—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCAC... | AGGAGTTTGAGACCAGCATGGCCAACATAGCAAAACCCTATCTCTACAACAGAAAAATACAAGAATGGCTGGACGCAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAGGCCCAGGCGGGTGGATCACAAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAATCCCGCCTCTACTAAAAAAGAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGTGCTTGTAGTCCCAGCTATTCAGGAGGCTCAGGCAGAAGAATGGCATGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGCGCCAC... | benign | 276,391 |
Gene mutation in BRCA1 at chromosome 17, position 43127866—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | ATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCG... | ATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCG... | benign | 276,414 |
Chromosome 17, position 44004769, gene NAGS (N-acetylglutamate synthase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hyperammonemia,_type_III'] | GATCCTCACATATTTCTGTACCTCCATTTTCTCATCTGTAAAATGGGAATAATGATAATAGCTATCCTGGAGTCACTGAGAGGATTAAATGAATGACTATTTGTGAAGTCCTTTGCATAGTGCCTAGCATTCGACATGTGTTAGCTATTCCTCTACCACACAGAAGGCTTTGCTTGGTGCTAGGGTATCTTTAACACATGGCACCTGCTAACCTTCCATGTTACCAAGAAAGCAGGCAAGCTATGCAGATGGAATATAATGGAATGTAATAACATTGTTTTCCTCTCACTTGATTCTTTTTTAATTTTGATTTTAATTTT... | GATCCTCACATATTTCTGTACCTCCATTTTCTCATCTGTAAAATGGGAATAATGATAATAGCTATCCTGGAGTCACTGAGAGGATTAAATGAATGACTATTTGTGAAGTCCTTTGCATAGTGCCTAGCATTCGACATGTGTTAGCTATTCCTCTACCACACAGAAGGCTTTGCTTGGTGCTAGGGTATCTTTAACACATGGCACCTGCTAACCTTCCATGTTACCAAGAAAGCAGGCAAGCTATGCAGATGGAATATAATGGAATGTAATAACATTGTTTTCCTCTCACTTGATTCTTTTTTAATTTTGATTTTAATTTT... | pathogenic | 276,456 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 44004972, gene NAGS (N-acetylglutamate synthase): what disease(s) if pathogenic? | pathogenic; ['Hyperammonemia,_type_III'] | CCTGCTAACCTTCCATGTTACCAAGAAAGCAGGCAAGCTATGCAGATGGAATATAATGGAATGTAATAACATTGTTTTCCTCTCACTTGATTCTTTTTTAATTTTGATTTTAATTTTAATTTTAATTTTTTTGAGACAGGGTCTCATTCTGTCGCCCAGACGGGAGTGCAGTGGCACAGTCTCAGTTCACCGCAATCTCCTCCTCCCAGGCTCAAGTGATTCTCTGGCCTCCTGAGTAGCTGGGATTACAGAAACATGCCACTACTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAG... | CCTGCTAACCTTCCATGTTACCAAGAAAGCAGGCAAGCTATGCAGATGGAATATAATGGAATGTAATAACATTGTTTTCCTCTCACTTGATTCTTTTTTAATTTTGATTTTAATTTTAATTTTAATTTTTTTGAGACAGGGTCTCATTCTGTCGCCCAGACGGGAGTGCAGTGGCACAGTCTCAGTTCACCGCAATCTCCTCCTCCCAGGCTCAAGTGATTCTCTGGCCTCCTGAGTAGCTGGGATTACAGAAACATGCCACTACTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAG... | pathogenic | 276,462 |
A genetic variant at chromosome 17, position 44005858, affecting gene NAGS (N-acetylglutamate synthase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hyperammonemia,_type_III'] | CCGTCTTCAAAAAAAATAATTTTTTTTTAAATCAGCTGGGCATGGTGGTGTGCATTTGTGGTCCCAGCTACTAGGGAGACTGAGGCAGGAGGATCATTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTATGATTGCACCACTGTACTGCAGCCTGGGCAACAACAGAGTGAGACCCTATCTCAAAAACCAAAATAAAAAACTCTATTTTATTTTATTTTTACCAGATGTGATATTCGATAAAGAAAAGCATTAACACTAAAGTATTATAAGTTTTGAGGGGTGTTTTGAGGATATCACAGAATTCCTCAAGCTGGTACC... | CCGTCTTCAAAAAAAATAATTTTTTTTTAAATCAGCTGGGCATGGTGGTGTGCATTTGTGGTCCCAGCTACTAGGGAGACTGAGGCAGGAGGATCATTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTATGATTGCACCACTGTACTGCAGCCTGGGCAACAACAGAGTGAGACCCTATCTCAAAAACCAAAATAAAAAACTCTATTTTATTTTATTTTTACCAGATGTGATATTCGATAAAGAAAAGCATTAACACTAAAGTATTATAAGTTTTGAGGGGTGTTTTGAGGATATCACAGAATTCCTCAAGCTGGTACC... | pathogenic | 276,469 |
Considering the variant on chromosome 17, location 44006637, involving gene NAGS (N-acetylglutamate synthase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hyperammonemia,_type_III', 'Inborn_genetic_diseases'] | GCAAGTTAAGAGCCCCCCAGTGCCAGACGCTCCAGACAGACTGCCACTCTTGGGGGGCAAGAGTTGGTTGTCGTCATGGCGACGGCGCTGATGGCTGTGGTTCTGCGGGCAGCTGCTGTAGCCCCGAGGCTGAGAGGCCGGGGAGGCACTGGGGGCGCCCGAAGGCTGAGCTGTGGCGCGCGGCGGCGGGCGGCGAGGGGCACCAGCCCGGGGCGCCGGCTCAGCACCGCCTGGTCGCAGCCCCAGCCCCCGCCCGAGGAGTACGCGGGCGCGGACGACGTCTCCCAGTCGCCCGTCGCCGAGGAGCCGTCGTGGGTGCC... | GCAAGTTAAGAGCCCCCCAGTGCCAGACGCTCCAGACAGACTGCCACTCTTGGGGGGCAAGAGTTGGTTGTCGTCATGGCGACGGCGCTGATGGCTGTGGTTCTGCGGGCAGCTGCTGTAGCCCCGAGGCTGAGAGGCCGGGGAGGCACTGGGGGCGCCCGAAGGCTGAGCTGTGGCGCGCGGCGGCGGGCGGCGAGGGGCACCAGCCCGGGGCGCCGGCTCAGCACCGCCTGGTCGCAGCCCCAGCCCCCGCCCGAGGAGTACGCGGGCGCGGACGACGTCTCCCAGTCGCCCGTCGCCGAGGAGCCGTCGTGGGTGCC... | pathogenic | 276,478 |
Determine whether the variant at chromosome 17, position 44007629, in gene NAGS (N-acetylglutamate synthase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hyperammonemia,_type_III'] | TGGGAGCCAGCGGCTCAGGTCCGTGTCACGCTCCTTGAAAGCCCACTCCTCCGCAGGTGGACGAGGAGGTGCTCAAGTGCCAGCAGGGCGTATCCAGTCTGGCCTTTGCCCTGGCCTTCTTGCAGCGCATGGACATGAAGCCGCTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCGAGCCGGCT... | TGGGAGCCAGCGGCTCAGGTCCGTGTCACGCTCCTTGAAAGCCCACTCCTCCGCAGGTGGACGAGGAGGTGCTCAAGTGCCAGCAGGGCGTATCCAGTCTGGCCTTTGCCCTGGCCTTCTTGCAGCGCATGGACATGAAGCCGCTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCGAGCCGGCT... | pathogenic | 276,491 |
Gene NAGS (N-acetylglutamate synthase) variant at chromosome 17, position 44007733—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hyperammonemia,_type_III'] | TTTGCCCTGGCCTTCTTGCAGCGCATGGACATGAAGCCGCTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCGAGCCGGCTCCCCATGCCAGGTGAGTGCCCGCCCTGCCCGCCCAGGCGTCCTCAGAGCGTGCTACTCTGCCCGCCCTGCCCCGTCCGGCAGGCCTGGAGGGGGCCCTCTCGAG... | TTTGCCCTGGCCTTCTTGCAGCGCATGGACATGAAGCCGCTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCGAGCCGGCTCCCCATGCCAGGTGAGTGCCCGCCCTGCCCGCCCAGGCGTCCTCAGAGCGTGCTACTCTGCCCGCCCTGCCCCGTCCGGCAGGCCTGGAGGGGGCCCTCTCGAG... | pathogenic | 276,496 |
Is the variant located on chromosome 17 at position 44071158, gene G6PC3, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_severe_congenital_neutropenia_due_to_G6PC3_deficiency'] | AATGGCGTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCATCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACTTCCTGGTGTTGGAGGTATTGGTATAATCATTGTAATAGGAATAAAAATTCTGTTCACTACAAAGGCAATAAACGAAGATTTATATCCAGCTTCCCTCCTTTACACCTTTTTTTTTTTTTGGAGACGGAATTTCTGTCTTGTTGCCCAAGCTGGAATGCAATGGCACAATCTTGGCTCACCACAGCCTCCACGTCCTGGGCTCAAGCGATTCACCTC... | AATGGCGTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCATCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACTTCCTGGTGTTGGAGGTATTGGTATAATCATTGTAATAGGAATAAAAATTCTGTTCACTACAAAGGCAATAAACGAAGATTTATATCCAGCTTCCCTCCTTTACACCTTTTTTTTTTTTTGGAGACGGAATTTCTGTCTTGTTGCCCAAGCTGGAATGCAATGGCACAATCTTGGCTCACCACAGCCTCCACGTCCTGGGCTCAAGCGATTCACCTC... | pathogenic | 276,521 |
For chromosome 17, position 44071171, gene G6PC3: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_severe_congenital_neutropenia_due_to_G6PC3_deficiency'] | CAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCATCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACTTCCTGGTGTTGGAGGTATTGGTATAATCATTGTAATAGGAATAAAAATTCTGTTCACTACAAAGGCAATAAACGAAGATTTATATCCAGCTTCCCTCCTTTACACCTTTTTTTTTTTTTGGAGACGGAATTTCTGTCTTGTTGCCCAAGCTGGAATGCAATGGCACAATCTTGGCTCACCACAGCCTCCACGTCCTGGGCTCAAGCGATTCACCTCTCTCAGCCTCCTG... | CAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCATCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACTTCCTGGTGTTGGAGGTATTGGTATAATCATTGTAATAGGAATAAAAATTCTGTTCACTACAAAGGCAATAAACGAAGATTTATATCCAGCTTCCCTCCTTTACACCTTTTTTTTTTTTTGGAGACGGAATTTCTGTCTTGTTGCCCAAGCTGGAATGCAATGGCACAATCTTGGCTCACCACAGCCTCCACGTCCTGGGCTCAAGCGATTCACCTCTCTCAGCCTCCTG... | pathogenic | 276,523 |
Variant chromosome 17, position 44071174, gene G6PC3: benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_severe_congenital_neutropenia_due_to_G6PC3_deficiency'] | GAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCATCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACTTCCTGGTGTTGGAGGTATTGGTATAATCATTGTAATAGGAATAAAAATTCTGTTCACTACAAAGGCAATAAACGAAGATTTATATCCAGCTTCCCTCCTTTACACCTTTTTTTTTTTTTGGAGACGGAATTTCTGTCTTGTTGCCCAAGCTGGAATGCAATGGCACAATCTTGGCTCACCACAGCCTCCACGTCCTGGGCTCAAGCGATTCACCTCTCTCAGCCTCCTGAGT... | GAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCATCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACTTCCTGGTGTTGGAGGTATTGGTATAATCATTGTAATAGGAATAAAAATTCTGTTCACTACAAAGGCAATAAACGAAGATTTATATCCAGCTTCCCTCCTTTACACCTTTTTTTTTTTTTGGAGACGGAATTTCTGTCTTGTTGCCCAAGCTGGAATGCAATGGCACAATCTTGGCTCACCACAGCCTCCACGTCCTGGGCTCAAGCGATTCACCTCTCTCAGCCTCCTGAGT... | pathogenic | 276,526 |
Evaluate the clinical significance of the mutation at chromosome 17, position 44075766 in gene G6PC3 (glucose-6-phosphatase catalytic subunit 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_severe_congenital_neutropenia_due_to_G6PC3_deficiency'] | CCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGA... | CCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGA... | pathogenic | 276,556 |
Does the variant impacting G6PC3 (glucose-6-phosphatase catalytic subunit 3) on chromosome 17, position 44075907, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_severe_congenital_neutropenia_due_to_G6PC3_deficiency', 'Inherited_Immunodeficiency_Diseases'] | ACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGG... | ACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACTTCACCCCTCAGGCCCTCCAGAGTACTCTGTGTCCTGCCCGCCTTGTACCCCCCCTGGCTGTGTGTGCATGTGGAAAGTCATCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGACAGG... | pathogenic | 276,569 |
A genetic variant at chromosome 17, position 44253211, affecting gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group))—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic | TGAAGCTCCACGTTCCTGAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCA... | TGAAGCTCCACGTTCCTGAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCA... | pathogenic | 276,628 |
A genetic variant at chromosome 17, position 44255286, affecting gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group))—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic | AACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCT... | AACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCT... | pathogenic | 276,640 |
Variant in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), located at chromosome 17 position 44257365: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_spherocytosis_type_4'] | CAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGC... | CAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGC... | pathogenic | 276,648 |
Chromosome 17, position 44257667, gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | TTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCA... | TTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCA... | pathogenic | 276,656 |
Does the genetic variant at chromosome 17, position 44257709, impacting gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic | GGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCC... | GGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCC... | pathogenic | 276,657 |
Mutation at chromosome 17, position 44258025, within SLC4A1 (solute carrier family 4 member 1 (Diego blood group)): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_dominant_distal_renal_tubular_acidosis', 'BLOOD_GROUP--DIEGO_SYSTEM', 'BLOOD_GROUP--FROESE', 'BLOOD_GROUP--SWANN_SYSTEM', 'BLOOD_GROUP--WALDNER_TYPE', 'BLOOD_GROUP--WRIGHT_ANTIGEN', 'Cryohydrocytosis', 'Hereditary_spherocytosis_type_4', 'Malaria,_susceptibility_to', 'Renal_tubular_acidosis,_dist... | ATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGT... | ATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGT... | pathogenic | 276,663 |
Gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) variant at chromosome position 44258042 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_dominant_distal_renal_tubular_acidosis', 'BLOOD_GROUP--DIEGO_SYSTEM', 'BLOOD_GROUP--FROESE', 'BLOOD_GROUP--SWANN_SYSTEM', 'BLOOD_GROUP--WALDNER_TYPE', 'BLOOD_GROUP--WRIGHT_ANTIGEN', 'Cryohydrocytosis', 'Distal_renal_tubular_acidosis', 'Hereditary_spherocytosis_type_4', 'Malaria,_cerebral,_resist... | TCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCA... | TCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCA... | pathogenic | 276,665 |
Classify the chromosome 17 variant at position 44259260 affecting gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['SLC4A1-related_disorder'] | GAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGT... | GAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGT... | pathogenic | 276,675 |
Chromosome 17, position 44259902, gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic | AGGAGCCCATAGAGCAAGTCATGGTCAGGCTGATGCAGGGGTCTGGAGGGTCAGACAGAGTCAGAAGTTGGGGCTGAGACAGAGGCCAGAGGGTCAGAGGCAAGAGTTAGGGAGACAGGTATTGGCACTGACCCAGGAGGCCGCCGAAGGTGATGGCGGGTGACAGTGCAGCAAAGTAGATGAAGATGACGGCAGCCAGGACCTGGGGGCTGAATGCATCTGTGATGTCACTCAGGTAATAGGGGTAGCGGCGCCGGATATCACGCACCAGGCCCCCGAAGAGCTGGCCTGTCTGCTGCAGAGGGTCATCTGGGCCCCCA... | AGGAGCCCATAGAGCAAGTCATGGTCAGGCTGATGCAGGGGTCTGGAGGGTCAGACAGAGTCAGAAGTTGGGGCTGAGACAGAGGCCAGAGGGTCAGAGGCAAGAGTTAGGGAGACAGGTATTGGCACTGACCCAGGAGGCCGCCGAAGGTGATGGCGGGTGACAGTGCAGCAAAGTAGATGAAGATGACGGCAGCCAGGACCTGGGGGCTGAATGCATCTGTGATGTCACTCAGGTAATAGGGGTAGCGGCGCCGGATATCACGCACCAGGCCCCCGAAGAGCTGGCCTGTCTGCTGCAGAGGGTCATCTGGGCCCCCA... | pathogenic | 276,683 |
Evaluate if the mutation on chromosome 17 at position 44349262 in GRN is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions', 'Neuronal_ceroid_lipofuscinosis_11'] | GTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCC... | GTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCC... | pathogenic | 276,718 |
A genetic variant on chromosome 17, position 44350176, affects the gene GRN (granulin precursor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | ATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCC... | ATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCC... | benign | 276,731 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 44350259, gene GRN (granulin precursor). What disease(s) is it linked to if pathogenic? | pathogenic; ['GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions', 'Neuronal_ceroid_lipofuscinosis_11'] | TTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGA... | TTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGA... | pathogenic | 276,733 |
Clinical classification of chromosome 17, position 44350262, gene GRN (granulin precursor): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Frontotemporal_dementia', 'GRN-related_disorder', 'GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions', 'Neuronal_ceroid_lipofuscinosis_11'] | CCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACAT... | CCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACAT... | pathogenic | 276,735 |
Does the variant on chromosome 17 at location 44350446 affecting gene GRN (granulin precursor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions', 'Neuronal_ceroid_lipofuscinosis_11'] | TGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCT... | TGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCT... | pathogenic | 276,738 |
Clinically, how would you classify the variant at chromosome 17, position 44350570, gene GRN (granulin precursor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions', 'Neuronal_ceroid_lipofuscinosis_11'] | AGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTC... | AGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTC... | pathogenic | 276,743 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 44350766, gene GRN (granulin precursor). What disease(s) is it linked to if pathogenic? | pathogenic; ['GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions', 'Neuronal_ceroid_lipofuscinosis_11', 'Primary_progressive_aphasia'] | GGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGT... | GGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGT... | pathogenic | 276,746 |
Determine if the mutation at chromosome 17, position 44350800 in gene GRN is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions', 'Inborn_genetic_diseases', 'Neuronal_ceroid_lipofuscinosis_11'] | AGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTT... | AGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTT... | pathogenic | 276,749 |
A genetic variant on chromosome 17, position 44351080, affects the gene GRN (granulin precursor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Frontotemporal_dementia', 'GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions'] | AGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAA... | AGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAA... | pathogenic | 276,756 |
Variant in gene GRN (granulin precursor), located at chromosome 17 position 44351095: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions', 'Neuronal_ceroid_lipofuscinosis_11'] | TCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGAT... | TCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGAT... | pathogenic | 276,757 |
Gene mutation in GRN (granulin precursor) at chromosome 17, position 44351102—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Frontotemporal_dementia'] | GTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAG... | GTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAG... | pathogenic | 276,758 |
Does the variant impacting GRN (granulin precursor) on chromosome 17, position 44351138, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions', 'Neuronal_ceroid_lipofuscinosis_11', 'Primary_progressive_aphasia'] | TGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATT... | TGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATT... | pathogenic | 276,759 |
Evaluate the clinical significance of the mutation at chromosome 17, position 44351625 in gene GRN (granulin precursor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions', 'Neuronal_ceroid_lipofuscinosis_11'] | GGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGT... | GGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGT... | pathogenic | 276,767 |
Regarding the variant at chromosome 17 and position 44351760, affecting gene GRN (granulin precursor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions', 'Neuronal_ceroid_lipofuscinosis_11'] | CACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCC... | CACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCC... | pathogenic | 276,771 |
A genetic alteration at chromosome 17, position 44372364, in gene ITGA2B (integrin subunit alpha 2b)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Glanzmann_thrombasthenia'] | TCTCTGCAGTCTTGACCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTACCTGGGTCTACAGGAACATACCACCACACCTAGCTAGTAATTTTTATTTTTGAGATGGAGTTTGGCTCTTATTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCGCCCAGGTTCAAGTGATTCTCCAGCCTCAGCCTCCCAAGAACCTGGGATTACAGGCACCTGCTACCACAGCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCC... | TCTCTGCAGTCTTGACCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTACCTGGGTCTACAGGAACATACCACCACACCTAGCTAGTAATTTTTATTTTTGAGATGGAGTTTGGCTCTTATTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCGCCCAGGTTCAAGTGATTCTCCAGCCTCAGCCTCCCAAGAACCTGGGATTACAGGCACCTGCTACCACAGCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCC... | pathogenic | 276,790 |
The genetic variant at chromosome 17, position 44372391, affecting gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1', 'Platelet-type_bleeding_disorder_16'] | AAGCAATCCTCCTGCCTCAGCCTCCTGAGTACCTGGGTCTACAGGAACATACCACCACACCTAGCTAGTAATTTTTATTTTTGAGATGGAGTTTGGCTCTTATTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCGCCCAGGTTCAAGTGATTCTCCAGCCTCAGCCTCCCAAGAACCTGGGATTACAGGCACCTGCTACCACAGCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGTGATCCGCCCACCCCAG... | AAGCAATCCTCCTGCCTCAGCCTCCTGAGTACCTGGGTCTACAGGAACATACCACCACACCTAGCTAGTAATTTTTATTTTTGAGATGGAGTTTGGCTCTTATTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCGCCCAGGTTCAAGTGATTCTCCAGCCTCAGCCTCCCAAGAACCTGGGATTACAGGCACCTGCTACCACAGCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGTGATCCGCCCACCCCAG... | pathogenic | 276,791 |
Variant on chromosome 17, at position 44372392, affecting ITGA2B (integrin subunit alpha 2b): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | AGCAATCCTCCTGCCTCAGCCTCCTGAGTACCTGGGTCTACAGGAACATACCACCACACCTAGCTAGTAATTTTTATTTTTGAGATGGAGTTTGGCTCTTATTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCGCCCAGGTTCAAGTGATTCTCCAGCCTCAGCCTCCCAAGAACCTGGGATTACAGGCACCTGCTACCACAGCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGTGATCCGCCCACCCCAGC... | AGCAATCCTCCTGCCTCAGCCTCCTGAGTACCTGGGTCTACAGGAACATACCACCACACCTAGCTAGTAATTTTTATTTTTGAGATGGAGTTTGGCTCTTATTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCGCCCAGGTTCAAGTGATTCTCCAGCCTCAGCCTCCCAAGAACCTGGGATTACAGGCACCTGCTACCACAGCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGGTGATCCGCCCACCCCAGC... | pathogenic | 276,792 |
Benign or pathogenic: chromosome 17, position 44374396, gene ITGA2B (integrin subunit alpha 2b) variant? Disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | AGTGTAGGCTGCACCATCACTCCCCCTCTTCATCATCTTCTTCCAGGGGTGGCCGGTTCCGCTTGAAGAAGCCGACCTGGGGGTACACGGGGGCCAAGGTCAGGGTATACAGATGATTTGCTGGCCCCAGAGCACATGTGAGGAAGTATGCTAGCTATGAGCACCTCCCTGGACCAGCGCAGAACATGAAGCCCACTGTACTCACAAATGGATGCCTTTTGACATTTAGAGATAATGCATGGAACGAATTGTTGGGTTTTTGTTTTTTCTCCCCTGAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTC... | AGTGTAGGCTGCACCATCACTCCCCCTCTTCATCATCTTCTTCCAGGGGTGGCCGGTTCCGCTTGAAGAAGCCGACCTGGGGGTACACGGGGGCCAAGGTCAGGGTATACAGATGATTTGCTGGCCCCAGAGCACATGTGAGGAAGTATGCTAGCTATGAGCACCTCCCTGGACCAGCGCAGAACATGAAGCCCACTGTACTCACAAATGGATGCCTTTTGACATTTAGAGATAATGCATGGAACGAATTGTTGGGTTTTTGTTTTTTCTCCCCTGAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTC... | pathogenic | 276,798 |
The genetic variant at chromosome 17, position 44374403, affecting gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | GCTGCACCATCACTCCCCCTCTTCATCATCTTCTTCCAGGGGTGGCCGGTTCCGCTTGAAGAAGCCGACCTGGGGGTACACGGGGGCCAAGGTCAGGGTATACAGATGATTTGCTGGCCCCAGAGCACATGTGAGGAAGTATGCTAGCTATGAGCACCTCCCTGGACCAGCGCAGAACATGAAGCCCACTGTACTCACAAATGGATGCCTTTTGACATTTAGAGATAATGCATGGAACGAATTGTTGGGTTTTTGTTTTTTCTCCCCTGAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGG... | GCTGCACCATCACTCCCCCTCTTCATCATCTTCTTCCAGGGGTGGCCGGTTCCGCTTGAAGAAGCCGACCTGGGGGTACACGGGGGCCAAGGTCAGGGTATACAGATGATTTGCTGGCCCCAGAGCACATGTGAGGAAGTATGCTAGCTATGAGCACCTCCCTGGACCAGCGCAGAACATGAAGCCCACTGTACTCACAAATGGATGCCTTTTGACATTTAGAGATAATGCATGGAACGAATTGTTGGGTTTTTGTTTTTTCTCCCCTGAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGG... | pathogenic | 276,799 |
Benign or pathogenic: chromosome 17, position 44374434, gene ITGA2B (integrin subunit alpha 2b) variant? Disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | TCTTCCAGGGGTGGCCGGTTCCGCTTGAAGAAGCCGACCTGGGGGTACACGGGGGCCAAGGTCAGGGTATACAGATGATTTGCTGGCCCCAGAGCACATGTGAGGAAGTATGCTAGCTATGAGCACCTCCCTGGACCAGCGCAGAACATGAAGCCCACTGTACTCACAAATGGATGCCTTTTGACATTTAGAGATAATGCATGGAACGAATTGTTGGGTTTTTGTTTTTTCTCCCCTGAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGT... | TCTTCCAGGGGTGGCCGGTTCCGCTTGAAGAAGCCGACCTGGGGGTACACGGGGGCCAAGGTCAGGGTATACAGATGATTTGCTGGCCCCAGAGCACATGTGAGGAAGTATGCTAGCTATGAGCACCTCCCTGGACCAGCGCAGAACATGAAGCCCACTGTACTCACAAATGGATGCCTTTTGACATTTAGAGATAATGCATGGAACGAATTGTTGGGTTTTTGTTTTTTCTCCCCTGAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGT... | pathogenic | 276,801 |
A genetic variant on chromosome 17, position 44374438, affects the gene ITGA2B (integrin subunit alpha 2b). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Glanzmann_thrombasthenia'] | CCAGGGGTGGCCGGTTCCGCTTGAAGAAGCCGACCTGGGGGTACACGGGGGCCAAGGTCAGGGTATACAGATGATTTGCTGGCCCCAGAGCACATGTGAGGAAGTATGCTAGCTATGAGCACCTCCCTGGACCAGCGCAGAACATGAAGCCCACTGTACTCACAAATGGATGCCTTTTGACATTTAGAGATAATGCATGGAACGAATTGTTGGGTTTTTGTTTTTTCTCCCCTGAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAG... | CCAGGGGTGGCCGGTTCCGCTTGAAGAAGCCGACCTGGGGGTACACGGGGGCCAAGGTCAGGGTATACAGATGATTTGCTGGCCCCAGAGCACATGTGAGGAAGTATGCTAGCTATGAGCACCTCCCTGGACCAGCGCAGAACATGAAGCCCACTGTACTCACAAATGGATGCCTTTTGACATTTAGAGATAATGCATGGAACGAATTGTTGGGTTTTTGTTTTTTCTCCCCTGAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAG... | pathogenic | 276,802 |
Is the genetic change at chromosome 17, position 44374448, within gene ITGA2B (integrin subunit alpha 2b) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1'] | CCGGTTCCGCTTGAAGAAGCCGACCTGGGGGTACACGGGGGCCAAGGTCAGGGTATACAGATGATTTGCTGGCCCCAGAGCACATGTGAGGAAGTATGCTAGCTATGAGCACCTCCCTGGACCAGCGCAGAACATGAAGCCCACTGTACTCACAAATGGATGCCTTTTGACATTTAGAGATAATGCATGGAACGAATTGTTGGGTTTTTGTTTTTTCTCCCCTGAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTC... | CCGGTTCCGCTTGAAGAAGCCGACCTGGGGGTACACGGGGGCCAAGGTCAGGGTATACAGATGATTTGCTGGCCCCAGAGCACATGTGAGGAAGTATGCTAGCTATGAGCACCTCCCTGGACCAGCGCAGAACATGAAGCCCACTGTACTCACAAATGGATGCCTTTTGACATTTAGAGATAATGCATGGAACGAATTGTTGGGTTTTTGTTTTTTCTCCCCTGAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTC... | pathogenic | 276,803 |
Is the chromosome 17, position 44374671 variant in ITGA2B (integrin subunit alpha 2b) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia'] | GAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTCCCGGGTTCAAACAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTGTGTGCCACCACGCCCAGCTAATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCATTGTGTTGGGATTACAGGCATAAGCCACTGTGCCCGGCCTCTGAATTTTTCTTTTTTATTT... | GAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTCCCGGGTTCAAACAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTGTGTGCCACCACGCCCAGCTAATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCATTGTGTTGGGATTACAGGCATAAGCCACTGTGCCCGGCCTCTGAATTTTTCTTTTTTATTT... | pathogenic | 276,811 |
Located at chromosome 17 position 44374671, the variant affecting gene ITGA2B (integrin subunit alpha 2b)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Glanzmann_thrombasthenia'] | GAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTCCCGGGTTCAAACAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTGTGTGCCACCACGCCCAGCTAATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCATTGTGTTGGGATTACAGGCATAAGCCACTGTGCCCGGCCTCTGAATTTTTCTTTTTTATTT... | GAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTCCCGGGTTCAAACAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTGTGTGCCACCACGCCCAGCTAATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCATTGTGTTGGGATTACAGGCATAAGCCACTGTGCCCGGCCTCTGAATTTTTCTTTTTTATTT... | pathogenic | 276,812 |
Is the genetic variant on chromosome 17, position 44374686, gene ITGA2B (integrin subunit alpha 2b), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Glanzmann_thrombasthenia'] | TCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTCCCGGGTTCAAACAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTGTGTGCCACCACGCCCAGCTAATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCATTGTGTTGGGATTACAGGCATAAGCCACTGTGCCCGGCCTCTGAATTTTTCTTTTTTATTTTATTTTTAGAGACAG... | TCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTCCCGGGTTCAAACAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTGTGTGCCACCACGCCCAGCTAATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCATTGTGTTGGGATTACAGGCATAAGCCACTGTGCCCGGCCTCTGAATTTTTCTTTTTTATTTTATTTTTAGAGACAG... | pathogenic | 276,814 |
Considering the variant on chromosome 17, location 44374699, involving gene ITGA2B (integrin subunit alpha 2b), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Glanzmann_thrombasthenia'] | GGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTCCCGGGTTCAAACAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTGTGTGCCACCACGCCCAGCTAATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCATTGTGTTGGGATTACAGGCATAAGCCACTGTGCCCGGCCTCTGAATTTTTCTTTTTTATTTTATTTTTAGAGACAGGGTCTTTCTGTTG... | GGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTCCCGGGTTCAAACAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTGTGTGCCACCACGCCCAGCTAATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCATTGTGTTGGGATTACAGGCATAAGCCACTGTGCCCGGCCTCTGAATTTTTCTTTTTTATTTTATTTTTAGAGACAGGGTCTTTCTGTTG... | pathogenic | 276,816 |
Considering the genetic mutation at chromosome 17, position 44374699, impacting ITGA2B (integrin subunit alpha 2b): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glanzmann_thrombasthenia'] | GGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTCCCGGGTTCAAACAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTGTGTGCCACCACGCCCAGCTAATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCATTGTGTTGGGATTACAGGCATAAGCCACTGTGCCCGGCCTCTGAATTTTTCTTTTTTATTTTATTTTTAGAGACAGGGTCTTTCTGTTG... | GGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTCCCGGGTTCAAACAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTGTGTGCCACCACGCCCAGCTAATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCATTGTGTTGGGATTACAGGCATAAGCCACTGTGCCCGGCCTCTGAATTTTTCTTTTTTATTTTATTTTTAGAGACAGGGTCTTTCTGTTG... | pathogenic | 276,817 |
Determine whether the variant at chromosome 17, position 44374718, in gene ITGA2B (integrin subunit alpha 2b) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | CCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTCCCGGGTTCAAACAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTGTGTGCCACCACGCCCAGCTAATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCATTGTGTTGGGATTACAGGCATAAGCCACTGTGCCCGGCCTCTGAATTTTTCTTTTTTATTTTATTTTTAGAGACAGGGTCTTTCTGTTGTCACCCAGGCAATCCTCTC... | CCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTCCCGGGTTCAAACAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTGTGTGCCACCACGCCCAGCTAATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCATTGTGTTGGGATTACAGGCATAAGCCACTGTGCCCGGCCTCTGAATTTTTCTTTTTTATTTTATTTTTAGAGACAGGGTCTTTCTGTTGTCACCCAGGCAATCCTCTC... | pathogenic | 276,818 |
Variant on chromosome 17, at position 44375081, affecting ITGA2B (integrin subunit alpha 2b): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1'] | CCACACCTGACTAATTTTTTTTAAAAAACTTTTTTGTAGAGATGGAGTCTCACTATGCTGTCCCAAACTCCTGGCCTCAAGTGATCCACCGCGCCTGGTCCCCACCTGGAATTTTTCTTTTCTTTTCTTTTGAGATGAAATCTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTTCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAAGTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGTCAGGCTG... | CCACACCTGACTAATTTTTTTTAAAAAACTTTTTTGTAGAGATGGAGTCTCACTATGCTGTCCCAAACTCCTGGCCTCAAGTGATCCACCGCGCCTGGTCCCCACCTGGAATTTTTCTTTTCTTTTCTTTTGAGATGAAATCTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTTCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAAGTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGTCAGGCTG... | pathogenic | 276,824 |
Variant in ITGA2B (integrin subunit alpha 2b), chromosome 17, position 44375643—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glanzmann_thrombasthenia'] | TCCAGGGCCACATAGGAAGGGAGGAATAGGGTCTAGACCAATCCTTGGGCCTCTTGCCTCACTCAAGGGGAAGGGCAGGGCTAGGAAGAAGTGCATCTTGTCCTTGAGACCAGCCAGGAATTCCTGAAGGCAGGACTTACACCCTCTATACCCTCTATATCCTCTGAATCTTTTTGGTGGCAGGGGTGTCTAAAGGCCTCAGAATTTCAGGTGCTATCCTTTCCAGTGGTATGTGTCTGGAAGGGTTCCCAGGAGAATGACATTTTTGTGTTTGTTTTGCCTTTTTTGCTCTACTAGAGAAAGACATTCTATTTTTTTCT... | TCCAGGGCCACATAGGAAGGGAGGAATAGGGTCTAGACCAATCCTTGGGCCTCTTGCCTCACTCAAGGGGAAGGGCAGGGCTAGGAAGAAGTGCATCTTGTCCTTGAGACCAGCCAGGAATTCCTGAAGGCAGGACTTACACCCTCTATACCCTCTATATCCTCTGAATCTTTTTGGTGGCAGGGGTGTCTAAAGGCCTCAGAATTTCAGGTGCTATCCTTTCCAGTGGTATGTGTCTGGAAGGGTTCCCAGGAGAATGACATTTTTGTGTTTGTTTTGCCTTTTTTGCTCTACTAGAGAAAGACATTCTATTTTTTTCT... | pathogenic | 276,828 |
Variant at chromosome position 44375643, chromosome 17, gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Glanzmann_thrombasthenia'] | TCCAGGGCCACATAGGAAGGGAGGAATAGGGTCTAGACCAATCCTTGGGCCTCTTGCCTCACTCAAGGGGAAGGGCAGGGCTAGGAAGAAGTGCATCTTGTCCTTGAGACCAGCCAGGAATTCCTGAAGGCAGGACTTACACCCTCTATACCCTCTATATCCTCTGAATCTTTTTGGTGGCAGGGGTGTCTAAAGGCCTCAGAATTTCAGGTGCTATCCTTTCCAGTGGTATGTGTCTGGAAGGGTTCCCAGGAGAATGACATTTTTGTGTTTGTTTTGCCTTTTTTGCTCTACTAGAGAAAGACATTCTATTTTTTTCT... | TCCAGGGCCACATAGGAAGGGAGGAATAGGGTCTAGACCAATCCTTGGGCCTCTTGCCTCACTCAAGGGGAAGGGCAGGGCTAGGAAGAAGTGCATCTTGTCCTTGAGACCAGCCAGGAATTCCTGAAGGCAGGACTTACACCCTCTATACCCTCTATATCCTCTGAATCTTTTTGGTGGCAGGGGTGTCTAAAGGCCTCAGAATTTCAGGTGCTATCCTTTCCAGTGGTATGTGTCTGGAAGGGTTCCCAGGAGAATGACATTTTTGTGTTTGTTTTGCCTTTTTTGCTCTACTAGAGAAAGACATTCTATTTTTTTCT... | pathogenic | 276,829 |
Is the genetic mutation found on chromosome 17 at position 44375680, within the gene ITGA2B (integrin subunit alpha 2b), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1'] | CCAATCCTTGGGCCTCTTGCCTCACTCAAGGGGAAGGGCAGGGCTAGGAAGAAGTGCATCTTGTCCTTGAGACCAGCCAGGAATTCCTGAAGGCAGGACTTACACCCTCTATACCCTCTATATCCTCTGAATCTTTTTGGTGGCAGGGGTGTCTAAAGGCCTCAGAATTTCAGGTGCTATCCTTTCCAGTGGTATGTGTCTGGAAGGGTTCCCAGGAGAATGACATTTTTGTGTTTGTTTTGCCTTTTTTGCTCTACTAGAGAAAGACATTCTATTTTTTTCTTTTTTTTTTGAGATGGAGGCTCGCTCTGTTGCCCAAG... | CCAATCCTTGGGCCTCTTGCCTCACTCAAGGGGAAGGGCAGGGCTAGGAAGAAGTGCATCTTGTCCTTGAGACCAGCCAGGAATTCCTGAAGGCAGGACTTACACCCTCTATACCCTCTATATCCTCTGAATCTTTTTGGTGGCAGGGGTGTCTAAAGGCCTCAGAATTTCAGGTGCTATCCTTTCCAGTGGTATGTGTCTGGAAGGGTTCCCAGGAGAATGACATTTTTGTGTTTGTTTTGCCTTTTTTGCTCTACTAGAGAAAGACATTCTATTTTTTTCTTTTTTTTTTGAGATGGAGGCTCGCTCTGTTGCCCAAG... | pathogenic | 276,831 |
Is the variant located on chromosome 17 at position 44375704, gene ITGA2B (integrin subunit alpha 2b), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Glanzmann_thrombasthenia'] | CTCAAGGGGAAGGGCAGGGCTAGGAAGAAGTGCATCTTGTCCTTGAGACCAGCCAGGAATTCCTGAAGGCAGGACTTACACCCTCTATACCCTCTATATCCTCTGAATCTTTTTGGTGGCAGGGGTGTCTAAAGGCCTCAGAATTTCAGGTGCTATCCTTTCCAGTGGTATGTGTCTGGAAGGGTTCCCAGGAGAATGACATTTTTGTGTTTGTTTTGCCTTTTTTGCTCTACTAGAGAAAGACATTCTATTTTTTTCTTTTTTTTTTGAGATGGAGGCTCGCTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCTCG... | CTCAAGGGGAAGGGCAGGGCTAGGAAGAAGTGCATCTTGTCCTTGAGACCAGCCAGGAATTCCTGAAGGCAGGACTTACACCCTCTATACCCTCTATATCCTCTGAATCTTTTTGGTGGCAGGGGTGTCTAAAGGCCTCAGAATTTCAGGTGCTATCCTTTCCAGTGGTATGTGTCTGGAAGGGTTCCCAGGAGAATGACATTTTTGTGTTTGTTTTGCCTTTTTTGCTCTACTAGAGAAAGACATTCTATTTTTTTCTTTTTTTTTTGAGATGGAGGCTCGCTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCTCG... | pathogenic | 276,834 |
Located at chromosome 17 position 44375878, the variant affecting gene ITGA2B (integrin subunit alpha 2b)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Glanzmann_thrombasthenia'] | TCTGGAAGGGTTCCCAGGAGAATGACATTTTTGTGTTTGTTTTGCCTTTTTTGCTCTACTAGAGAAAGACATTCTATTTTTTTCTTTTTTTTTTGAGATGGAGGCTCGCTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCATGCAATTCTACTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGCATGTGTCAACACGCCCGGCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTA... | TCTGGAAGGGTTCCCAGGAGAATGACATTTTTGTGTTTGTTTTGCCTTTTTTGCTCTACTAGAGAAAGACATTCTATTTTTTTCTTTTTTTTTTGAGATGGAGGCTCGCTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCATGCAATTCTACTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGCATGTGTCAACACGCCCGGCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTA... | pathogenic | 276,838 |
Clinically, how would you classify the variant at chromosome 17, position 44375953, gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Glanzmann_thrombasthenia'] | ATTTTTTTCTTTTTTTTTTGAGATGGAGGCTCGCTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCATGCAATTCTACTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGCATGTGTCAACACGCCCGGCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAG... | ATTTTTTTCTTTTTTTTTTGAGATGGAGGCTCGCTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCATGCAATTCTACTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGCATGTGTCAACACGCCCGGCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAG... | pathogenic | 276,840 |
Variant at chromosome position 44375955, chromosome 17, gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Glanzmann_thrombasthenia'] | TTTTTTCTTTTTTTTTTGAGATGGAGGCTCGCTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCATGCAATTCTACTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGCATGTGTCAACACGCCCGGCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTG... | TTTTTTCTTTTTTTTTTGAGATGGAGGCTCGCTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCATGCAATTCTACTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGCATGTGTCAACACGCCCGGCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTG... | pathogenic | 276,841 |
Is the genetic change at chromosome 17, position 44375974, within gene ITGA2B (integrin subunit alpha 2b) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glanzmann_thrombasthenia'] | GATGGAGGCTCGCTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCATGCAATTCTACTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGCATGTGTCAACACGCCCGGCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTC... | GATGGAGGCTCGCTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCATGCAATTCTACTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGCATGTGTCAACACGCCCGGCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTC... | pathogenic | 276,843 |
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