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 |
|---|---|---|---|---|---|
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 210590826, gene CPS1 (carbamoyl-phosphate synthase 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | GCGTATTGGGAGACTCTTCATCGTACCTCCTTATTAGAGAATACCAGCAATATTCAAATCATGATTTCAAATTCTTGTCAATTTTATTAACAAACATTTGCATGGATAGCATGCATGGTAGCAGATGCTGTGGATGGCCTGTGTATATCTCAATCTCAAGTTACCATTTTAATTCATGTTGCCCATCTTCCAATTGCAAATATCTATATCTCTTTGCCTGATGGCTGGAGCCTACTGGCAGGCAGTAAATGGCATAGAATTAATGATCTCTGGAGTAGCCCCCAACCAAAGCACAGAAAAAGCCAGTGTTTAACCACCCT... | GCGTATTGGGAGACTCTTCATCGTACCTCCTTATTAGAGAATACCAGCAATATTCAAATCATGATTTCAAATTCTTGTCAATTTTATTAACAAACATTTGCATGGATAGCATGCATGGTAGCAGATGCTGTGGATGGCCTGTGTATATCTCAATCTCAAGTTACCATTTTAATTCATGTTGCCCATCTTCCAATTGCAAATATCTATATCTCTTTGCCTGATGGCTGGAGCCTACTGGCAGGCAGTAAATGGCATAGAATTAATGATCTCTGGAGTAGCCCCCAACCAAAGCACAGAAAAAGCCAGTGTTTAACCACCCT... | pathogenic | 54,543 |
Gene CPS1 (carbamoyl-phosphate synthase 1) variant at chromosome 2, position 210591913—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GTCTTGACTTCCTGGGCTCAAGCAATTCCCCCCTATCTTGAGCTTCCCTATGTGCTAGGATCACCGGCATGAGCCACCAAGCCCGGCCCCAAAGAAATTTTTGCTCAGCATTATTTATTTTAAATGTTTACAAATTTTTCCTTCCCTTTAAGGAATGGTTAGTCAAGAGAAAGTCTAGCAAAATTATACTTTGGCAAAGAAACATGTTATTAAATTCATCATTCTTGTGTCTCTTTTCCAGCGAGGAGCTGAAGTGCACTTAGTTCCCTGGAACCATGATTTCACCAAGATGGAGTATGATGGGATTTTGATCGCGGGAG... | GTCTTGACTTCCTGGGCTCAAGCAATTCCCCCCTATCTTGAGCTTCCCTATGTGCTAGGATCACCGGCATGAGCCACCAAGCCCGGCCCCAAAGAAATTTTTGCTCAGCATTATTTATTTTAAATGTTTACAAATTTTTCCTTCCCTTTAAGGAATGGTTAGTCAAGAGAAAGTCTAGCAAAATTATACTTTGGCAAAGAAACATGTTATTAAATTCATCATTCTTGTGTCTCTTTTCCAGCGAGGAGCTGAAGTGCACTTAGTTCCCTGGAACCATGATTTCACCAAGATGGAGTATGATGGGATTTTGATCGCGGGAG... | benign | 54,547 |
Is the genetic change at chromosome 2, position 210592899, within gene CPS1 (carbamoyl-phosphate synthase 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | TTAATAACAGGATTGGCTGCTGGTGCCAAAACCTACAAGATGTCCATGGCCAACAGGTGAGGTATTTTCACTTTTGCTTACAGTAAACCAGCTCTGACATACTAACTAAATACAAAGAACTCAGAGCACTTACCTGCCATTTCTTTAGAGTAAATAAATGCACATGTACCCTAAAACTTAAAGTATAATAAAAATAAATAAATAAATAAATAAATAAATAAAATAAAAAATAAAATAAATAACCATACCTTACGTGGTTGACAGTTGTTTGACTACCTGATACCACTTTTGTTGCATTTTTGGAAAGCAGCCTTCTCTAA... | TTAATAACAGGATTGGCTGCTGGTGCCAAAACCTACAAGATGTCCATGGCCAACAGGTGAGGTATTTTCACTTTTGCTTACAGTAAACCAGCTCTGACATACTAACTAAATACAAAGAACTCAGAGCACTTACCTGCCATTTCTTTAGAGTAAATAAATGCACATGTACCCTAAAACTTAAAGTATAATAAAAATAAATAAATAAATAAATAAATAAATAAAATAAAAAATAAAATAAATAACCATACCTTACGTGGTTGACAGTTGTTTGACTACCTGATACCACTTTTGTTGCATTTTTGGAAAGCAGCCTTCTCTAA... | pathogenic | 54,553 |
Determine if the mutation at chromosome 2, position 210594613 in gene CPS1 (carbamoyl-phosphate synthase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GTTTACTCTGAACAGAACCCAGAGGGGTCCCAAAGACTATAGACCAAATTTTTTATTTATTTATTTATTTTAAAGGAAAACACATTCAGTTGAGTCTTCATTGACCCATTTTCCATACTTAATCAAAAAGGTCAGATATGTAAGTCCTTAAGATATCGGACCATGTTACTTAATAGTACTGTTAGTTACAAAAATTTTGTTAAGCATCTAACTCAGTTTTTAAATTTGAGCTTTATTGTTCCCTGAATAATACATAGCCACACTTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATT... | GTTTACTCTGAACAGAACCCAGAGGGGTCCCAAAGACTATAGACCAAATTTTTTATTTATTTATTTATTTTAAAGGAAAACACATTCAGTTGAGTCTTCATTGACCCATTTTCCATACTTAATCAAAAAGGTCAGATATGTAAGTCCTTAAGATATCGGACCATGTTACTTAATAGTACTGTTAGTTACAAAAATTTTGTTAAGCATCTAACTCAGTTTTTAAATTTGAGCTTTATTGTTCCCTGAATAATACATAGCCACACTTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATT... | benign | 54,562 |
Gene mutation in CPS1 (carbamoyl-phosphate synthase 1) at chromosome 2, position 210595543—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Congenital_hyperammonemia,_type_I'] | TTAATCTAAATATTTTTACTTTTTTGTGTGTGAGCTCTTAGTTCATTGTTCAAACCCATCTTTCCAAATAAATTCTTCTGGTGATATCCAGAAAAATCTGAAGTCTATTGTGACTTCCCCACACCCAGGGGCCTCCAGTAGCAAATCTTCATTGTCAGAACTCTCAGAAAAGACTTCGAGGTAAAATGGGGAAGAGAATAAGAGCTTTCTTTCTGCAAGCTCTGCTCTACTCTCTCATGTCTGAATTGCCGTTTTAGATATTTATATTTTGTTCTTGTTTTAATATTATTAGGAAATATTGGTTCTTAATAGCCAAAATC... | TTAATCTAAATATTTTTACTTTTTTGTGTGTGAGCTCTTAGTTCATTGTTCAAACCCATCTTTCCAAATAAATTCTTCTGGTGATATCCAGAAAAATCTGAAGTCTATTGTGACTTCCCCACACCCAGGGGCCTCCAGTAGCAAATCTTCATTGTCAGAACTCTCAGAAAAGACTTCGAGGTAAAATGGGGAAGAGAATAAGAGCTTTCTTTCTGCAAGCTCTGCTCTACTCTCTCATGTCTGAATTGCCGTTTTAGATATTTATATTTTGTTCTTGTTTTAATATTATTAGGAAATATTGGTTCTTAATAGCCAAAATC... | pathogenic | 54,564 |
Assess the variant on chromosome 2, position 210599423, impacting CPS1 (carbamoyl-phosphate synthase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | ATTAGCTATGTGACCTTTAGCAAACCATTTAACCTTACTGAATCTCAATTTCTTCATCCAAAAGGTTGAAATCTCTTTCATAGTCTTGGTATAAAAATCAAATACATTACTAAAAAGTACATTACAAGCATTAAGTCACTATTTGAATTTAAAGCAGCATAAAATATATTTAATGTTTTATTCAGATCCTCCCCAAAGATATGTGGGGTTTTCAATAATAATTTCTATACTTTTATCTGAATATTTTGTTGACTTTTTAGGAGAATTTAAAATTGACATGCTAATGTATGAAATAATTAGAACCATCTGGCTGTATGTTA... | ATTAGCTATGTGACCTTTAGCAAACCATTTAACCTTACTGAATCTCAATTTCTTCATCCAAAAGGTTGAAATCTCTTTCATAGTCTTGGTATAAAAATCAAATACATTACTAAAAAGTACATTACAAGCATTAAGTCACTATTTGAATTTAAAGCAGCATAAAATATATTTAATGTTTTATTCAGATCCTCCCCAAAGATATGTGGGGTTTTCAATAATAATTTCTATACTTTTATCTGAATATTTTGTTGACTTTTTAGGAGAATTTAAAATTGACATGCTAATGTATGAAATAATTAGAACCATCTGGCTGTATGTTA... | pathogenic | 54,569 |
Gene CPS1 (carbamoyl-phosphate synthase 1) variant at chromosome position 210599433 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['CPS1-related_disorder', 'Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | TGACCTTTAGCAAACCATTTAACCTTACTGAATCTCAATTTCTTCATCCAAAAGGTTGAAATCTCTTTCATAGTCTTGGTATAAAAATCAAATACATTACTAAAAAGTACATTACAAGCATTAAGTCACTATTTGAATTTAAAGCAGCATAAAATATATTTAATGTTTTATTCAGATCCTCCCCAAAGATATGTGGGGTTTTCAATAATAATTTCTATACTTTTATCTGAATATTTTGTTGACTTTTTAGGAGAATTTAAAATTGACATGCTAATGTATGAAATAATTAGAACCATCTGGCTGTATGTTATAATAATTAT... | TGACCTTTAGCAAACCATTTAACCTTACTGAATCTCAATTTCTTCATCCAAAAGGTTGAAATCTCTTTCATAGTCTTGGTATAAAAATCAAATACATTACTAAAAAGTACATTACAAGCATTAAGTCACTATTTGAATTTAAAGCAGCATAAAATATATTTAATGTTTTATTCAGATCCTCCCCAAAGATATGTGGGGTTTTCAATAATAATTTCTATACTTTTATCTGAATATTTTGTTGACTTTTTAGGAGAATTTAAAATTGACATGCTAATGTATGAAATAATTAGAACCATCTGGCTGTATGTTATAATAATTAT... | pathogenic | 54,571 |
Evaluate the clinical significance of the mutation at chromosome 2, position 210599539 in gene CPS1 (carbamoyl-phosphate synthase 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | GTACATTACAAGCATTAAGTCACTATTTGAATTTAAAGCAGCATAAAATATATTTAATGTTTTATTCAGATCCTCCCCAAAGATATGTGGGGTTTTCAATAATAATTTCTATACTTTTATCTGAATATTTTGTTGACTTTTTAGGAGAATTTAAAATTGACATGCTAATGTATGAAATAATTAGAACCATCTGGCTGTATGTTATAATAATTATTTTGCTAAGTGTCACCCTCATCTTGGTTTATAAAACAATTATCCTTAGTAGCCTACATAAAGAATTATTTTGAAGGTCTCTCCCGATGTAAGGAATGAGATAGAGC... | GTACATTACAAGCATTAAGTCACTATTTGAATTTAAAGCAGCATAAAATATATTTAATGTTTTATTCAGATCCTCCCCAAAGATATGTGGGGTTTTCAATAATAATTTCTATACTTTTATCTGAATATTTTGTTGACTTTTTAGGAGAATTTAAAATTGACATGCTAATGTATGAAATAATTAGAACCATCTGGCTGTATGTTATAATAATTATTTTGCTAAGTGTCACCCTCATCTTGGTTTATAAAACAATTATCCTTAGTAGCCTACATAAAGAATTATTTTGAAGGTCTCTCCCGATGTAAGGAATGAGATAGAGC... | pathogenic | 54,574 |
Variant at chromosome position 210600537, chromosome 2, gene CPS1 (carbamoyl-phosphate synthase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TGCGCTCAAAATAAAGGGATAGAGGAAAATCTACCAAGCAAATGGAAAACAGAAAAAAAAAGGGGATACAATCCTAATTTCAGAAAAAACAGATTTCAAATGAACGAGGATTTAAAAACAGACAAAGAAGGGCATTATGTAATAGTAATGGGTTCAATTCAAGAAGAAGATCTAACTATCCTAAATATATATGCACCCAACACAGGAGCACCCAGTTTCATAAAGCAAGTTCTTAGAGACCTGCAAAGAGACTTAGACTCCCACACAATAATAGTGGGAGGTATCAACACTCCACTGATAGTATTAAACAAATCATTGAG... | TGCGCTCAAAATAAAGGGATAGAGGAAAATCTACCAAGCAAATGGAAAACAGAAAAAAAAAGGGGATACAATCCTAATTTCAGAAAAAACAGATTTCAAATGAACGAGGATTTAAAAACAGACAAAGAAGGGCATTATGTAATAGTAATGGGTTCAATTCAAGAAGAAGATCTAACTATCCTAAATATATATGCACCCAACACAGGAGCACCCAGTTTCATAAAGCAAGTTCTTAGAGACCTGCAAAGAGACTTAGACTCCCACACAATAATAGTGGGAGGTATCAACACTCCACTGATAGTATTAAACAAATCATTGAG... | benign | 54,577 |
Is chromosome 2, position 210600598, gene CPS1 (carbamoyl-phosphate synthase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | GGGGATACAATCCTAATTTCAGAAAAAACAGATTTCAAATGAACGAGGATTTAAAAACAGACAAAGAAGGGCATTATGTAATAGTAATGGGTTCAATTCAAGAAGAAGATCTAACTATCCTAAATATATATGCACCCAACACAGGAGCACCCAGTTTCATAAAGCAAGTTCTTAGAGACCTGCAAAGAGACTTAGACTCCCACACAATAATAGTGGGAGGTATCAACACTCCACTGATAGTATTAAACAAATCATTGAGGCAGAAATTTAACAAAGATATTCAGGACCTAAACTTGACATTGGACCAAATGGATCTGATA... | GGGGATACAATCCTAATTTCAGAAAAAACAGATTTCAAATGAACGAGGATTTAAAAACAGACAAAGAAGGGCATTATGTAATAGTAATGGGTTCAATTCAAGAAGAAGATCTAACTATCCTAAATATATATGCACCCAACACAGGAGCACCCAGTTTCATAAAGCAAGTTCTTAGAGACCTGCAAAGAGACTTAGACTCCCACACAATAATAGTGGGAGGTATCAACACTCCACTGATAGTATTAAACAAATCATTGAGGCAGAAATTTAACAAAGATATTCAGGACCTAAACTTGACATTGGACCAAATGGATCTGATA... | pathogenic | 54,578 |
Variant in CPS1 (carbamoyl-phosphate synthase 1), chromosome 2, position 210602268—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Congenital_hyperammonemia,_type_I'] | TTTTAAATTATAGAATCTCATTATAGAAATGGACTTTAGGAGGAAAGGGAATATATTGAAATCTTAAGGCTCAGTATAATACTATGACTTTTATTAATAAGGATAAAAATGATTTTCAGAAGATGGTAATATAAGTAAAAGTAGCATCAGTAACATATTTTGTCAGACCGTCTTCAGAATTTTTATTTCAATTTTTTTCCCTAAGTGCAATTCTATTGTAGACAGTGGTAACTTCTCGGATTTTAAGATTAAAAAAGTAGTTGTATTCAGTTGTCTATTAAAAAAGGCACAAAATTCAAGATTTTAAAAACTAATCCTAT... | TTTTAAATTATAGAATCTCATTATAGAAATGGACTTTAGGAGGAAAGGGAATATATTGAAATCTTAAGGCTCAGTATAATACTATGACTTTTATTAATAAGGATAAAAATGATTTTCAGAAGATGGTAATATAAGTAAAAGTAGCATCAGTAACATATTTTGTCAGACCGTCTTCAGAATTTTTATTTCAATTTTTTTCCCTAAGTGCAATTCTATTGTAGACAGTGGTAACTTCTCGGATTTTAAGATTAAAAAAGTAGTTGTATTCAGTTGTCTATTAAAAAAGGCACAAAATTCAAGATTTTAAAAACTAATCCTAT... | pathogenic | 54,587 |
Does the variant impacting CPS1 (carbamoyl-phosphate synthase 1) on chromosome 2, position 210605190, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | CGTGCAGCCAAGAAACCTGTGTAACTTACATGGCAGTCATAGAAGTGAATTTGACAGAATTACTGTAAGGGCTATTTTGGGAATTATTTAGGAAATAGCTCACGGACAGCTTATTGCTTCATCTTTACTTACTTTTTGAACTGAAGTGAAATGAGACCCTTGAATTGTTGACATAGAATTTTGAAAACAGATAAGTACAATTCAGCATATTTAAATAACTACAATGGCAGACTTACATATAAACAACTTGGGTTTCGTTTTTCTAAAGTTGTGAAAATTACAAAAAAGGGAAACATACCTCACATAAATGTTTCTTGTTA... | CGTGCAGCCAAGAAACCTGTGTAACTTACATGGCAGTCATAGAAGTGAATTTGACAGAATTACTGTAAGGGCTATTTTGGGAATTATTTAGGAAATAGCTCACGGACAGCTTATTGCTTCATCTTTACTTACTTTTTGAACTGAAGTGAAATGAGACCCTTGAATTGTTGACATAGAATTTTGAAAACAGATAAGTACAATTCAGCATATTTAAATAACTACAATGGCAGACTTACATATAAACAACTTGGGTTTCGTTTTTCTAAAGTTGTGAAAATTACAAAAAAGGGAAACATACCTCACATAAATGTTTCTTGTTA... | pathogenic | 54,590 |
Classify the chromosome 2 variant at position 210605193 affecting gene CPS1 (carbamoyl-phosphate synthase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Inborn_genetic_diseases'] | GCAGCCAAGAAACCTGTGTAACTTACATGGCAGTCATAGAAGTGAATTTGACAGAATTACTGTAAGGGCTATTTTGGGAATTATTTAGGAAATAGCTCACGGACAGCTTATTGCTTCATCTTTACTTACTTTTTGAACTGAAGTGAAATGAGACCCTTGAATTGTTGACATAGAATTTTGAAAACAGATAAGTACAATTCAGCATATTTAAATAACTACAATGGCAGACTTACATATAAACAACTTGGGTTTCGTTTTTCTAAAGTTGTGAAAATTACAAAAAAGGGAAACATACCTCACATAAATGTTTCTTGTTACCA... | GCAGCCAAGAAACCTGTGTAACTTACATGGCAGTCATAGAAGTGAATTTGACAGAATTACTGTAAGGGCTATTTTGGGAATTATTTAGGAAATAGCTCACGGACAGCTTATTGCTTCATCTTTACTTACTTTTTGAACTGAAGTGAAATGAGACCCTTGAATTGTTGACATAGAATTTTGAAAACAGATAAGTACAATTCAGCATATTTAAATAACTACAATGGCAGACTTACATATAAACAACTTGGGTTTCGTTTTTCTAAAGTTGTGAAAATTACAAAAAAGGGAAACATACCTCACATAAATGTTTCTTGTTACCA... | pathogenic | 54,591 |
The chromosome 2, position 210605201 genetic variant in gene CPS1 (carbamoyl-phosphate synthase 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | GAAACCTGTGTAACTTACATGGCAGTCATAGAAGTGAATTTGACAGAATTACTGTAAGGGCTATTTTGGGAATTATTTAGGAAATAGCTCACGGACAGCTTATTGCTTCATCTTTACTTACTTTTTGAACTGAAGTGAAATGAGACCCTTGAATTGTTGACATAGAATTTTGAAAACAGATAAGTACAATTCAGCATATTTAAATAACTACAATGGCAGACTTACATATAAACAACTTGGGTTTCGTTTTTCTAAAGTTGTGAAAATTACAAAAAAGGGAAACATACCTCACATAAATGTTTCTTGTTACCATTCTGGAC... | GAAACCTGTGTAACTTACATGGCAGTCATAGAAGTGAATTTGACAGAATTACTGTAAGGGCTATTTTGGGAATTATTTAGGAAATAGCTCACGGACAGCTTATTGCTTCATCTTTACTTACTTTTTGAACTGAAGTGAAATGAGACCCTTGAATTGTTGACATAGAATTTTGAAAACAGATAAGTACAATTCAGCATATTTAAATAACTACAATGGCAGACTTACATATAAACAACTTGGGTTTCGTTTTTCTAAAGTTGTGAAAATTACAAAAAAGGGAAACATACCTCACATAAATGTTTCTTGTTACCATTCTGGAC... | pathogenic | 54,593 |
Is the variant located on chromosome 2 at position 210608451, gene CPS1 (carbamoyl-phosphate synthase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | GTGATAATATTCAATGAAAGGAAGAACTTCAGAAATAATTTGAGATGAAGAGCAGGGAAGTTGAAGTCAATCTAGTAAGTAGACGATTGAAGCCTTGATAGCTACTTACTAGATAGATGAACTTGGGAAAGGTTAGAGAGGTTTCTAAAAGTACTGTATCAGAGTAATATGGGCAAAACAGGAATTGGGGGAATACCTGATATCACATATATATCCCAACAAACCCTCAGACTGTTCTATGTCTTGCATCGTGCAAGTAGATGGTTAAGTCGCTGAAGTTGGTTATTTCAATATGCCACCAAGTAATGAGTGCTTCTTGG... | GTGATAATATTCAATGAAAGGAAGAACTTCAGAAATAATTTGAGATGAAGAGCAGGGAAGTTGAAGTCAATCTAGTAAGTAGACGATTGAAGCCTTGATAGCTACTTACTAGATAGATGAACTTGGGAAAGGTTAGAGAGGTTTCTAAAAGTACTGTATCAGAGTAATATGGGCAAAACAGGAATTGGGGGAATACCTGATATCACATATATATCCCAACAAACCCTCAGACTGTTCTATGTCTTGCATCGTGCAAGTAGATGGTTAAGTCGCTGAAGTTGGTTATTTCAATATGCCACCAAGTAATGAGTGCTTCTTGG... | pathogenic | 54,603 |
Is the variant located on chromosome 2 at position 210612249, gene CPS1 (carbamoyl-phosphate synthase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | TTTAAATAATGTTCACCATAAAATTGGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTGGGAGGATTTAAAAAAGGAATAGATTATAGATAATTGAGATACATTGTCTGCAGTTGGTAAATTCAGAATACCTAAACTGACCCGAATAGACAATGAATTATTAATCTCTGGTAAATA... | TTTAAATAATGTTCACCATAAAATTGGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTGGGAGGATTTAAAAAAGGAATAGATTATAGATAATTGAGATACATTGTCTGCAGTTGGTAAATTCAGAATACCTAAACTGACCCGAATAGACAATGAATTATTAATCTCTGGTAAATA... | pathogenic | 54,617 |
Assess the variant on chromosome 2, position 210637733, impacting CPS1 (carbamoyl-phosphate synthase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | ATATTGGATTGCATTCAAGAATTTGACAGGAAAATGCATTGCTCTGAGAGAATGCTTATCAAATACTTGGGAAAACTAAATTCAAAATAAGAATAAAAAGAGAAGAAATTAAATTCAATGGGAGATTTAACACACTGATTTGAGACAGAAGAGAATTTAGGTGCAATAGAAAAAGCAAATTGACTAGGAAGAGCTGTAGCTGCAAAAATTTAAACTAATACTGACACTGGAAATCCAGGGAAATAGCCATTATATACACCAGCTTGATTTTTTCTTCTCCAAACTCAGAATATGAATTAATTAAAGCAGATTCATGATTA... | ATATTGGATTGCATTCAAGAATTTGACAGGAAAATGCATTGCTCTGAGAGAATGCTTATCAAATACTTGGGAAAACTAAATTCAAAATAAGAATAAAAAGAGAAGAAATTAAATTCAATGGGAGATTTAACACACTGATTTGAGACAGAAGAGAATTTAGGTGCAATAGAAAAAGCAAATTGACTAGGAAGAGCTGTAGCTGCAAAAATTTAAACTAATACTGACACTGGAAATCCAGGGAAATAGCCATTATATACACCAGCTTGATTTTTTCTTCTCCAAACTCAGAATATGAATTAATTAAAGCAGATTCATGATTA... | pathogenic | 54,625 |
Clinical classification of chromosome 2, position 210637810, gene CPS1 (carbamoyl-phosphate synthase 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | AAATTCAAAATAAGAATAAAAAGAGAAGAAATTAAATTCAATGGGAGATTTAACACACTGATTTGAGACAGAAGAGAATTTAGGTGCAATAGAAAAAGCAAATTGACTAGGAAGAGCTGTAGCTGCAAAAATTTAAACTAATACTGACACTGGAAATCCAGGGAAATAGCCATTATATACACCAGCTTGATTTTTTCTTCTCCAAACTCAGAATATGAATTAATTAAAGCAGATTCATGATTAGAATGAACAAAATGCAATAGATTTAATCCAATTACATTTTATTAACAGCATTTCATGAAAATGTTTTCTTAAGGCAA... | AAATTCAAAATAAGAATAAAAAGAGAAGAAATTAAATTCAATGGGAGATTTAACACACTGATTTGAGACAGAAGAGAATTTAGGTGCAATAGAAAAAGCAAATTGACTAGGAAGAGCTGTAGCTGCAAAAATTTAAACTAATACTGACACTGGAAATCCAGGGAAATAGCCATTATATACACCAGCTTGATTTTTTCTTCTCCAAACTCAGAATATGAATTAATTAAAGCAGATTCATGATTAGAATGAACAAAATGCAATAGATTTAATCCAATTACATTTTATTAACAGCATTTCATGAAAATGTTTTCTTAAGGCAA... | pathogenic | 54,627 |
Is the genetic change at chromosome 2, position 210637822, within gene CPS1 (carbamoyl-phosphate synthase 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | AGAATAAAAAGAGAAGAAATTAAATTCAATGGGAGATTTAACACACTGATTTGAGACAGAAGAGAATTTAGGTGCAATAGAAAAAGCAAATTGACTAGGAAGAGCTGTAGCTGCAAAAATTTAAACTAATACTGACACTGGAAATCCAGGGAAATAGCCATTATATACACCAGCTTGATTTTTTCTTCTCCAAACTCAGAATATGAATTAATTAAAGCAGATTCATGATTAGAATGAACAAAATGCAATAGATTTAATCCAATTACATTTTATTAACAGCATTTCATGAAAATGTTTTCTTAAGGCAAGTTAGATCTTCT... | AGAATAAAAAGAGAAGAAATTAAATTCAATGGGAGATTTAACACACTGATTTGAGACAGAAGAGAATTTAGGTGCAATAGAAAAAGCAAATTGACTAGGAAGAGCTGTAGCTGCAAAAATTTAAACTAATACTGACACTGGAAATCCAGGGAAATAGCCATTATATACACCAGCTTGATTTTTTCTTCTCCAAACTCAGAATATGAATTAATTAAAGCAGATTCATGATTAGAATGAACAAAATGCAATAGATTTAATCCAATTACATTTTATTAACAGCATTTCATGAAAATGTTTTCTTAAGGCAAGTTAGATCTTCT... | pathogenic | 54,628 |
Clinical significance of chromosome 2, position 210639202, gene CPS1 (carbamoyl-phosphate synthase 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | TTAGAGAGGGAGAGAGGGAAGACAAAAGCAGGTAACAAAGGGTAGAGCCGTGGGTAGGGGTAGGGGGAAACCCAAAACTAGTAAATGGTAGTTTTGAGTAATAAAGTAGAGCGAGAAGCCACTTAGTAGAAGCCAGAATATCTTTTTAAAAAATAGATCATCAAAAGGGTCTTGTGATGACAGGTTGAGGAAAATGAAAACTGAAAAAGGGCTCCTGGATTTAGAGAGTGAGGTCTCTGATTATTACTAATGAGCACATTTATTAGAACAGTAAATGCACTTGCCATTTTTTATAAAAGCAGCAGGGAAGAGGTCGCATA... | TTAGAGAGGGAGAGAGGGAAGACAAAAGCAGGTAACAAAGGGTAGAGCCGTGGGTAGGGGTAGGGGGAAACCCAAAACTAGTAAATGGTAGTTTTGAGTAATAAAGTAGAGCGAGAAGCCACTTAGTAGAAGCCAGAATATCTTTTTAAAAAATAGATCATCAAAAGGGTCTTGTGATGACAGGTTGAGGAAAATGAAAACTGAAAAAGGGCTCCTGGATTTAGAGAGTGAGGTCTCTGATTATTACTAATGAGCACATTTATTAGAACAGTAAATGCACTTGCCATTTTTTATAAAAGCAGCAGGGAAGAGGTCGCATA... | pathogenic | 54,635 |
Considering the variant on chromosome 2, location 210640018, involving gene CPS1 (carbamoyl-phosphate synthase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | GGTTGATGCTCATAATGTCACCAATTTTATTCAGCAAGTGATTAATTTTTACTTAAAAGGGAAAGAAGGAAAGGACACTAGGATGTAAAGATAAGAGTGAGTACCTGATTTTCTTGGCCTAACTGAACAAAACAAAACAAAAATTTAAACTCTCCTCTGCTTTTTGACCTGTGTTCAAATATGTAAGTAGTTAAGAAATCCTTAGTGTAATTGAAGGACTTGAAATTTCCTAGCATGGTGGCTGACCCTCTTGAAAATAATAGTTATCTCCTTTGGCAGTAACTTTTTACAGGGTAATACTTTATATTAAGTGCCCCATG... | GGTTGATGCTCATAATGTCACCAATTTTATTCAGCAAGTGATTAATTTTTACTTAAAAGGGAAAGAAGGAAAGGACACTAGGATGTAAAGATAAGAGTGAGTACCTGATTTTCTTGGCCTAACTGAACAAAACAAAACAAAAATTTAAACTCTCCTCTGCTTTTTGACCTGTGTTCAAATATGTAAGTAGTTAAGAAATCCTTAGTGTAATTGAAGGACTTGAAATTTCCTAGCATGGTGGCTGACCCTCTTGAAAATAATAGTTATCTCCTTTGGCAGTAACTTTTTACAGGGTAATACTTTATATTAAGTGCCCCATG... | pathogenic | 54,639 |
Determine whether the variant at chromosome 2, position 210640062, in gene CPS1 (carbamoyl-phosphate synthase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | ATTTTTACTTAAAAGGGAAAGAAGGAAAGGACACTAGGATGTAAAGATAAGAGTGAGTACCTGATTTTCTTGGCCTAACTGAACAAAACAAAACAAAAATTTAAACTCTCCTCTGCTTTTTGACCTGTGTTCAAATATGTAAGTAGTTAAGAAATCCTTAGTGTAATTGAAGGACTTGAAATTTCCTAGCATGGTGGCTGACCCTCTTGAAAATAATAGTTATCTCCTTTGGCAGTAACTTTTTACAGGGTAATACTTTATATTAAGTGCCCCATGATTATGGTTCATTTAGTATTCATTGTGATAGGGCTGGGCATAAT... | ATTTTTACTTAAAAGGGAAAGAAGGAAAGGACACTAGGATGTAAAGATAAGAGTGAGTACCTGATTTTCTTGGCCTAACTGAACAAAACAAAACAAAAATTTAAACTCTCCTCTGCTTTTTGACCTGTGTTCAAATATGTAAGTAGTTAAGAAATCCTTAGTGTAATTGAAGGACTTGAAATTTCCTAGCATGGTGGCTGACCCTCTTGAAAATAATAGTTATCTCCTTTGGCAGTAACTTTTTACAGGGTAATACTTTATATTAAGTGCCCCATGATTATGGTTCATTTAGTATTCATTGTGATAGGGCTGGGCATAAT... | benign | 54,640 |
Assess the variant on chromosome 2, position 210642553, impacting CPS1 (carbamoyl-phosphate synthase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Congenital_hyperammonemia,_type_I'] | AAAATCTTGTCTGTTTGGTGCATGGGTAGAGCATTATGTAGGTGAATTAAAACATAATCACCAGAGATATGACATTTCTCTCCAGTCAATTAAATAACCACTAAAGATTATTACAGATGCAAGTATGTATTTTAATGGACAGTGATATTAGTCAACATATGGATTTAATATTTAATCTCCACAAAGCATTATAATATGGAAATGATAAAAATCTATGATTTGAATATATTTAAATCTTATTCTATTACTTTAAGCATAGTTTATTTAGTTTTTACAATGAACTAAGAGCTTCAGGATATGTTAGTTTACCAATCTTTGGA... | AAAATCTTGTCTGTTTGGTGCATGGGTAGAGCATTATGTAGGTGAATTAAAACATAATCACCAGAGATATGACATTTCTCTCCAGTCAATTAAATAACCACTAAAGATTATTACAGATGCAAGTATGTATTTTAATGGACAGTGATATTAGTCAACATATGGATTTAATATTTAATCTCCACAAAGCATTATAATATGGAAATGATAAAAATCTATGATTTGAATATATTTAAATCTTATTCTATTACTTTAAGCATAGTTTATTTAGTTTTTACAATGAACTAAGAGCTTCAGGATATGTTAGTTTACCAATCTTTGGA... | pathogenic | 54,643 |
Mutation at chromosome 2, position 210647996, within CPS1 (carbamoyl-phosphate synthase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | TCTTACTATTGTTTTGAATTTATTGCAAAACAGAATTTTTAATTCCTTAAAAAGCAGAAATTTCTTTAAAAACAAGTCAATTTAATACAGCTAAGTTGAAAAATATTGATGTGTTTATTAAAGCCTTTTATTACACTTTAAGCTCCTATTTAGTCTAATTGACTCAAACTTTTGCTATAAGTTGCTACTTCTCCCTCAGTTTAAAAAAATTATTCTAAAATCCTTCATATAAGAGATTTTTTGTGTCCATTTAATGGAGTAATTTGTTTTTAAGTCTCTAAAACATTAACAACACTGCTGATAAACCCAACATAATAAGG... | TCTTACTATTGTTTTGAATTTATTGCAAAACAGAATTTTTAATTCCTTAAAAAGCAGAAATTTCTTTAAAAACAAGTCAATTTAATACAGCTAAGTTGAAAAATATTGATGTGTTTATTAAAGCCTTTTATTACACTTTAAGCTCCTATTTAGTCTAATTGACTCAAACTTTTGCTATAAGTTGCTACTTCTCCCTCAGTTTAAAAAAATTATTCTAAAATCCTTCATATAAGAGATTTTTTGTGTCCATTTAATGGAGTAATTTGTTTTTAAGTCTCTAAAACATTAACAACACTGCTGATAAACCCAACATAATAAGG... | pathogenic | 54,650 |
Benign or pathogenic: chromosome 2, position 210648492, gene CPS1 (carbamoyl-phosphate synthase 1) variant? Disease(s) if pathogenic? | pathogenic; ['Congenital_hyperammonemia,_type_I'] | TTACACAGTACCGTAATTGCTCTCATCAGACAGAAATTAGCCTCATCCCTTATAAGAGTATTTCAGAACAATTTTAAATAATGACAAAATATATTTGGCACATATCTATCATTTTGGCAGTTCTACTAATATTCATTAGTGGGTCATTAGGACACACACAAATTATGCTAAGCTCAATGGCCTATCAGATATATGATTTTTGATATTAATAATCATGTCTTATTTATTTATACACTTACGGTATATAGGACCTTTAATGTTTAGTGTTTAGGCAGGTATTATCCTAATTTTATACACAAGAAGACTAAACGTTGGGGGAA... | TTACACAGTACCGTAATTGCTCTCATCAGACAGAAATTAGCCTCATCCCTTATAAGAGTATTTCAGAACAATTTTAAATAATGACAAAATATATTTGGCACATATCTATCATTTTGGCAGTTCTACTAATATTCATTAGTGGGTCATTAGGACACACACAAATTATGCTAAGCTCAATGGCCTATCAGATATATGATTTTTGATATTAATAATCATGTCTTATTTATTTATACACTTACGGTATATAGGACCTTTAATGTTTAGTGTTTAGGCAGGTATTATCCTAATTTTATACACAAGAAGACTAAACGTTGGGGGAA... | pathogenic | 54,656 |
A genetic alteration at chromosome 2, position 210648547, in gene CPS1 (carbamoyl-phosphate synthase 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GAGTATTTCAGAACAATTTTAAATAATGACAAAATATATTTGGCACATATCTATCATTTTGGCAGTTCTACTAATATTCATTAGTGGGTCATTAGGACACACACAAATTATGCTAAGCTCAATGGCCTATCAGATATATGATTTTTGATATTAATAATCATGTCTTATTTATTTATACACTTACGGTATATAGGACCTTTAATGTTTAGTGTTTAGGCAGGTATTATCCTAATTTTATACACAAGAAGACTAAACGTTGGGGGAAAGTTCAGTCTTGTTGTCTATAAAATTAGACAAGAAGGGGTGGGTGGTACACAGAA... | GAGTATTTCAGAACAATTTTAAATAATGACAAAATATATTTGGCACATATCTATCATTTTGGCAGTTCTACTAATATTCATTAGTGGGTCATTAGGACACACACAAATTATGCTAAGCTCAATGGCCTATCAGATATATGATTTTTGATATTAATAATCATGTCTTATTTATTTATACACTTACGGTATATAGGACCTTTAATGTTTAGTGTTTAGGCAGGTATTATCCTAATTTTATACACAAGAAGACTAAACGTTGGGGGAAAGTTCAGTCTTGTTGTCTATAAAATTAGACAAGAAGGGGTGGGTGGTACACAGAA... | benign | 54,659 |
Regarding the variant found on chromosome 2 at position 210656693 in gene CPS1 (carbamoyl-phosphate synthase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GAAGAATATTTTACTTTAGTTTTATAGTTGTATTAATAATGCATTTGTGACTTCTCTTAAAATGTAGTAAGTTATGTTGTAGGGAGTCTATGCCATTTTACTTGCTTTAAGGAAAAATACAAACTTAGCATTCATCTTCTGCTTTGCAAATACTTCAAAACACTACTGAAGATGTTAAATCTTTTTCTCTTTTTCCTTCCAGATTAGCATTTCAGAGTAGATCTTGTTAATAAAAATGGTAATGGTATCTACTTACAACAGAATCACATAATCTTGAGTTGAAACACCTTTAGAGATAATTTATTCCAGCCCTCCACCCT... | GAAGAATATTTTACTTTAGTTTTATAGTTGTATTAATAATGCATTTGTGACTTCTCTTAAAATGTAGTAAGTTATGTTGTAGGGAGTCTATGCCATTTTACTTGCTTTAAGGAAAAATACAAACTTAGCATTCATCTTCTGCTTTGCAAATACTTCAAAACACTACTGAAGATGTTAAATCTTTTTCTCTTTTTCCTTCCAGATTAGCATTTCAGAGTAGATCTTGTTAATAAAAATGGTAATGGTATCTACTTACAACAGAATCACATAATCTTGAGTTGAAACACCTTTAGAGATAATTTATTCCAGCCCTCCACCCT... | benign | 54,675 |
Is the genetic mutation found on chromosome 2 at position 210658611, within the gene CPS1 (carbamoyl-phosphate synthase 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | AGGTGTCCACTCGGGAGATGCCACTCTGATGCTGCCCACACAAACCATCAGCCAAGGGGCCATTGAAAAGGTCATCATTTATAAATAAAAGTGGAAGGGAAAAGGCAACACTCAGAAAAAAACACCTAAGGTTTTTTTTTTTTTTTTAAAGCTAGGTAGCAATGTAAGATATGCTGCAGGTTAAATTTAATGATGAGGCTAACTTCCTTGCTCTGAGTCACCTGGGTATTCTAAAGATAACAATTTTCTTCACTGTCCTTTTGAGCCCCTTTGGTTGTATGCGAGTACAGGGGTTCTCAAACTTGAATGTGCATCACAGA... | AGGTGTCCACTCGGGAGATGCCACTCTGATGCTGCCCACACAAACCATCAGCCAAGGGGCCATTGAAAAGGTCATCATTTATAAATAAAAGTGGAAGGGAAAAGGCAACACTCAGAAAAAAACACCTAAGGTTTTTTTTTTTTTTTTAAAGCTAGGTAGCAATGTAAGATATGCTGCAGGTTAAATTTAATGATGAGGCTAACTTCCTTGCTCTGAGTCACCTGGGTATTCTAAAGATAACAATTTTCTTCACTGTCCTTTTGAGCCCCTTTGGTTGTATGCGAGTACAGGGGTTCTCAAACTTGAATGTGCATCACAGA... | pathogenic | 54,678 |
Is the genetic change at chromosome 2, position 210660629, within gene CPS1 (carbamoyl-phosphate synthase 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | TTATGCTTTTTAATTCAGGTGAAGGATGCTACCCGGAAGATTGCAAAGGCTTTTGCCATCTCTGGTCCATTCAACGTCCAATTTCTTGTCAAAGGAAATGATGTCTTGGTAAGAAATGCCAAGGTGCCTGAGAGGACACCACCACTGTGTTACGTCATGTTGGTTTGCATCTCTCTGGTAATCTTCTCTGTGAACACCAGACAAAGAGCAACTGAGACCCCTGGATCTGTTTGTGTCTGAGTGTGGAATGATGCATAGCATATAATGTCTACCTTATTTGAAGGCCCAGGCTATTGGTGGCACTGATAAGTCAGTTACAG... | TTATGCTTTTTAATTCAGGTGAAGGATGCTACCCGGAAGATTGCAAAGGCTTTTGCCATCTCTGGTCCATTCAACGTCCAATTTCTTGTCAAAGGAAATGATGTCTTGGTAAGAAATGCCAAGGTGCCTGAGAGGACACCACCACTGTGTTACGTCATGTTGGTTTGCATCTCTCTGGTAATCTTCTCTGTGAACACCAGACAAAGAGCAACTGAGACCCCTGGATCTGTTTGTGTCTGAGTGTGGAATGATGCATAGCATATAATGTCTACCTTATTTGAAGGCCCAGGCTATTGGTGGCACTGATAAGTCAGTTACAG... | pathogenic | 54,682 |
Chromosome 2, position 210663103, gene CPS1 (carbamoyl-phosphate synthase 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TACCACATTGACCACCTTTGCTTAGTATATATTTTCTTCAGTGGCATGATTTTTCCATTTGAAAAATTGAGACAGCTGTTGCTGTATATGGTGCTGTGCGGTTGTTGAAATTGATGACACCTTTATAAAGAGTGACCAGGAAAATTTAAAGTTTGTTCACTAATTTCCAATACATATGTATATTTTAAATAATACCTTAATAATAAAGCCATTGTGATCTCCTAGCTGCATCAGTATGATGGTGCACAGAATTATGACCTTTAACTACTTGGCTGGACAGGCATGAGGATTAGTGATATATAAACGTATTTGAATTACGT... | TACCACATTGACCACCTTTGCTTAGTATATATTTTCTTCAGTGGCATGATTTTTCCATTTGAAAAATTGAGACAGCTGTTGCTGTATATGGTGCTGTGCGGTTGTTGAAATTGATGACACCTTTATAAAGAGTGACCAGGAAAATTTAAAGTTTGTTCACTAATTTCCAATACATATGTATATTTTAAATAATACCTTAATAATAAAGCCATTGTGATCTCCTAGCTGCATCAGTATGATGGTGCACAGAATTATGACCTTTAACTACTTGGCTGGACAGGCATGAGGATTAGTGATATATAAACGTATTTGAATTACGT... | benign | 54,684 |
Does the variant impacting CPS1 (carbamoyl-phosphate synthase 1) on chromosome 2, position 210663103, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TACCACATTGACCACCTTTGCTTAGTATATATTTTCTTCAGTGGCATGATTTTTCCATTTGAAAAATTGAGACAGCTGTTGCTGTATATGGTGCTGTGCGGTTGTTGAAATTGATGACACCTTTATAAAGAGTGACCAGGAAAATTTAAAGTTTGTTCACTAATTTCCAATACATATGTATATTTTAAATAATACCTTAATAATAAAGCCATTGTGATCTCCTAGCTGCATCAGTATGATGGTGCACAGAATTATGACCTTTAACTACTTGGCTGGACAGGCATGAGGATTAGTGATATATAAACGTATTTGAATTACGT... | TACCACATTGACCACCTTTGCTTAGTATATATTTTCTTCAGTGGCATGATTTTTCCATTTGAAAAATTGAGACAGCTGTTGCTGTATATGGTGCTGTGCGGTTGTTGAAATTGATGACACCTTTATAAAGAGTGACCAGGAAAATTTAAAGTTTGTTCACTAATTTCCAATACATATGTATATTTTAAATAATACCTTAATAATAAAGCCATTGTGATCTCCTAGCTGCATCAGTATGATGGTGCACAGAATTATGACCTTTAACTACTTGGCTGGACAGGCATGAGGATTAGTGATATATAAACGTATTTGAATTACGT... | benign | 54,685 |
Clinical classification of chromosome 2, position 210668262, gene CPS1 (carbamoyl-phosphate synthase 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Congenital_hyperammonemia,_type_I', 'Pulmonary_hypertension,_neonatal,_susceptibility_to'] | TTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGTGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTAACGTTTAAGTCTTTAATCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTGCAGC... | TTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGTGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTAACGTTTAAGTCTTTAATCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTGCAGC... | pathogenic | 54,695 |
Is the chromosome 2, position 211430865 variant in ERBB4 (erb-b2 receptor tyrosine kinase 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AAGTGATCCTCCCACCTTAGCCTCTGAGTAGCCGGGACCACAGGGGTGCGCCACCATGCCTGGCTAATTTTTGCATTTTTTTAGAGATGATCATCATGTTGCCCAGGCTAGCCTAGAACTCCTGAGCTCAAGTGATCTGCCTGCTTTGACCTCCCAAAATGCTGGGATTACATACGTGAGCCACCCTGCTTGGTCATACTTATTTTTTTAAAAAAAAAGCTTTATAAACAATTAAAGGTAAAAATAATTAAGTGGGGATAACTTTCTATAGTTCTTAATTAACATTCAGTAATTAAGTTGCTAGTAAATATTATGATTTA... | AAGTGATCCTCCCACCTTAGCCTCTGAGTAGCCGGGACCACAGGGGTGCGCCACCATGCCTGGCTAATTTTTGCATTTTTTTAGAGATGATCATCATGTTGCCCAGGCTAGCCTAGAACTCCTGAGCTCAAGTGATCTGCCTGCTTTGACCTCCCAAAATGCTGGGATTACATACGTGAGCCACCCTGCTTGGTCATACTTATTTTTTTAAAAAAAAAGCTTTATAAACAATTAAAGGTAAAAATAATTAAGTGGGGATAACTTTCTATAGTTCTTAATTAACATTCAGTAATTAAGTTGCTAGTAAATATTATGATTTA... | benign | 54,732 |
Located at chromosome 2 position 211624145, the variant affecting gene ERBB4 (erb-b2 receptor tyrosine kinase 4)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CAAGACTGCAATTTAGGACTCTACATTTATTATCCACATAATTCGTTGATATTTTATTGTAGAAATGAGTACAGATTAAAATTATTAAAGATGTAAATACAATTGCAGTAAATAGATACAAACTTTAAGGATATAAAATGATACAGTCTGAGTCTGTTTTTTTCTAGCACAATCTAAATTGAGAAACAGAAACATTTGTTTCTTTGAACATATACAAATCTGAAGATGAGAAAAGGCATCAAGTCAGCCTAGAACAGTGCCTATGCAAAGTAGGTACTCAAATTTTTGTCAAATTAAGATCAAATTTAATTGAATAAAAT... | CAAGACTGCAATTTAGGACTCTACATTTATTATCCACATAATTCGTTGATATTTTATTGTAGAAATGAGTACAGATTAAAATTATTAAAGATGTAAATACAATTGCAGTAAATAGATACAAACTTTAAGGATATAAAATGATACAGTCTGAGTCTGTTTTTTTCTAGCACAATCTAAATTGAGAAACAGAAACATTTGTTTCTTTGAACATATACAAATCTGAAGATGAGAAAAGGCATCAAGTCAGCCTAGAACAGTGCCTATGCAAAGTAGGTACTCAAATTTTTGTCAAATTAAGATCAAATTTAATTGAATAAAAT... | benign | 54,739 |
Variant at chromosome 2, position 211630610, gene ERBB4 (erb-b2 receptor tyrosine kinase 4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TCTATCATTGCTGGACATTTGGCTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACATGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGATCAAATGGTATTTCTAGTTCCAGATCGCTGAGGAATCACCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAAATGGTA... | TCTATCATTGCTGGACATTTGGCTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACATGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGATCAAATGGTATTTCTAGTTCCAGATCGCTGAGGAATCACCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAAATGGTA... | benign | 54,740 |
Determine if the mutation at chromosome 2, position 211630611 in gene ERBB4 (erb-b2 receptor tyrosine kinase 4) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CTATCATTGCTGGACATTTGGCTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACATGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGATCAAATGGTATTTCTAGTTCCAGATCGCTGAGGAATCACCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAAATGGTAT... | CTATCATTGCTGGACATTTGGCTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACATGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGATCAAATGGTATTTCTAGTTCCAGATCGCTGAGGAATCACCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAAATGGTAT... | benign | 54,742 |
Determine if the mutation at chromosome 2, position 214728537 in gene BARD1 (BRCA1 associated RING domain 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GAAATATTTTTATTCAAAATTAATTAAAAAGCATTATGTTAAAAAAGATAAGCTTTTGTTAGTTAATAGACTTCCTCACCAAGTCATGTTGAGCCTCATTCAACAGCACAGAATAAGCCAATTTTATACAAGACACAGGTATATGGAAACACAAATAACTTTAATGATTTGTGGTAAAAAAGAAGGAAGCTTGAATCTATGATTGAAAAATAAAAAATAATTACATGTATATCTACACAGAAAGTACAATCACAAGTTTCAAGAGCTTAACACAAACTAACTGCTGTCAAATATTTAACAAAAGCAAAGATGAAACTGCT... | GAAATATTTTTATTCAAAATTAATTAAAAAGCATTATGTTAAAAAAGATAAGCTTTTGTTAGTTAATAGACTTCCTCACCAAGTCATGTTGAGCCTCATTCAACAGCACAGAATAAGCCAATTTTATACAAGACACAGGTATATGGAAACACAAATAACTTTAATGATTTGTGGTAAAAAAGAAGGAAGCTTGAATCTATGATTGAAAAATAAAAAATAATTACATGTATATCTACACAGAAAGTACAATCACAAGTTTCAAGAGCTTAACACAAACTAACTGCTGTCAAATATTTAACAAAAGCAAAGATGAAACTGCT... | benign | 54,777 |
Located at chromosome 2 position 214728537, the variant affecting gene BARD1 (BRCA1 associated RING domain 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GAAATATTTTTATTCAAAATTAATTAAAAAGCATTATGTTAAAAAAGATAAGCTTTTGTTAGTTAATAGACTTCCTCACCAAGTCATGTTGAGCCTCATTCAACAGCACAGAATAAGCCAATTTTATACAAGACACAGGTATATGGAAACACAAATAACTTTAATGATTTGTGGTAAAAAAGAAGGAAGCTTGAATCTATGATTGAAAAATAAAAAATAATTACATGTATATCTACACAGAAAGTACAATCACAAGTTTCAAGAGCTTAACACAAACTAACTGCTGTCAAATATTTAACAAAAGCAAAGATGAAACTGCT... | GAAATATTTTTATTCAAAATTAATTAAAAAGCATTATGTTAAAAAAGATAAGCTTTTGTTAGTTAATAGACTTCCTCACCAAGTCATGTTGAGCCTCATTCAACAGCACAGAATAAGCCAATTTTATACAAGACACAGGTATATGGAAACACAAATAACTTTAATGATTTGTGGTAAAAAAGAAGGAAGCTTGAATCTATGATTGAAAAATAAAAAATAATTACATGTATATCTACACAGAAAGTACAATCACAAGTTTCAAGAGCTTAACACAAACTAACTGCTGTCAAATATTTAACAAAAGCAAAGATGAAACTGCT... | benign | 54,778 |
Considering the variant on chromosome 2, location 214728537, involving gene BARD1 (BRCA1 associated RING domain 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GAAATATTTTTATTCAAAATTAATTAAAAAGCATTATGTTAAAAAAGATAAGCTTTTGTTAGTTAATAGACTTCCTCACCAAGTCATGTTGAGCCTCATTCAACAGCACAGAATAAGCCAATTTTATACAAGACACAGGTATATGGAAACACAAATAACTTTAATGATTTGTGGTAAAAAAGAAGGAAGCTTGAATCTATGATTGAAAAATAAAAAATAATTACATGTATATCTACACAGAAAGTACAATCACAAGTTTCAAGAGCTTAACACAAACTAACTGCTGTCAAATATTTAACAAAAGCAAAGATGAAACTGCT... | GAAATATTTTTATTCAAAATTAATTAAAAAGCATTATGTTAAAAAAGATAAGCTTTTGTTAGTTAATAGACTTCCTCACCAAGTCATGTTGAGCCTCATTCAACAGCACAGAATAAGCCAATTTTATACAAGACACAGGTATATGGAAACACAAATAACTTTAATGATTTGTGGTAAAAAAGAAGGAAGCTTGAATCTATGATTGAAAAATAAAAAATAATTACATGTATATCTACACAGAAAGTACAATCACAAGTTTCAAGAGCTTAACACAAACTAACTGCTGTCAAATATTTAACAAAAGCAAAGATGAAACTGCT... | benign | 54,779 |
Is the variant located on chromosome 2 at position 214728708, gene BARD1 (BRCA1 associated RING domain 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['BARD1-related_cancer_predisposition', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGTAAAAAAGAAGGAAGCTTGAATCTATGATTGAAAAATAAAAAATAATTACATGTATATCTACACAGAAAGTACAATCACAAGTTTCAAGAGCTTAACACAAACTAACTGCTGTCAAATATTTAACAAAAGCAAAGATGAAACTGCTTAACAGTCAGGGAAAAACAACAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAG... | TGGTAAAAAAGAAGGAAGCTTGAATCTATGATTGAAAAATAAAAAATAATTACATGTATATCTACACAGAAAGTACAATCACAAGTTTCAAGAGCTTAACACAAACTAACTGCTGTCAAATATTTAACAAAAGCAAAGATGAAACTGCTTAACAGTCAGGGAAAAACAACAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAG... | pathogenic | 54,790 |
A genetic alteration at chromosome 2, position 214728715, in gene BARD1 (BRCA1 associated RING domain 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAAGAAGGAAGCTTGAATCTATGATTGAAAAATAAAAAATAATTACATGTATATCTACACAGAAAGTACAATCACAAGTTTCAAGAGCTTAACACAAACTAACTGCTGTCAAATATTTAACAAAAGCAAAGATGAAACTGCTTAACAGTCAGGGAAAAACAACAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTA... | AAAGAAGGAAGCTTGAATCTATGATTGAAAAATAAAAAATAATTACATGTATATCTACACAGAAAGTACAATCACAAGTTTCAAGAGCTTAACACAAACTAACTGCTGTCAAATATTTAACAAAAGCAAAGATGAAACTGCTTAACAGTCAGGGAAAAACAACAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTA... | pathogenic | 54,794 |
The mutation in gene BARD1 (BRCA1 associated RING domain 1) at chromosome 2, position 214728741—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAAAAATAAAAAATAATTACATGTATATCTACACAGAAAGTACAATCACAAGTTTCAAGAGCTTAACACAAACTAACTGCTGTCAAATATTTAACAAAAGCAAAGATGAAACTGCTTAACAGTCAGGGAAAAACAACAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCC... | GAAAAATAAAAAATAATTACATGTATATCTACACAGAAAGTACAATCACAAGTTTCAAGAGCTTAACACAAACTAACTGCTGTCAAATATTTAACAAAAGCAAAGATGAAACTGCTTAACAGTCAGGGAAAAACAACAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCC... | pathogenic | 54,800 |
The mutation in gene BARD1 (BRCA1 associated RING domain 1) at chromosome 2, position 214728747—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAAAAAATAATTACATGTATATCTACACAGAAAGTACAATCACAAGTTTCAAGAGCTTAACACAAACTAACTGCTGTCAAATATTTAACAAAAGCAAAGATGAAACTGCTTAACAGTCAGGGAAAAACAACAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGA... | TAAAAAATAATTACATGTATATCTACACAGAAAGTACAATCACAAGTTTCAAGAGCTTAACACAAACTAACTGCTGTCAAATATTTAACAAAAGCAAAGATGAAACTGCTTAACAGTCAGGGAAAAACAACAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGA... | pathogenic | 54,804 |
Regarding the variant found on chromosome 2 at position 214728780 in gene BARD1 (BRCA1 associated RING domain 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTACAATCACAAGTTTCAAGAGCTTAACACAAACTAACTGCTGTCAAATATTTAACAAAAGCAAAGATGAAACTGCTTAACAGTCAGGGAAAAACAACAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAAC... | GTACAATCACAAGTTTCAAGAGCTTAACACAAACTAACTGCTGTCAAATATTTAACAAAAGCAAAGATGAAACTGCTTAACAGTCAGGGAAAAACAACAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAAC... | pathogenic | 54,815 |
The genetic variant at chromosome 2, position 214728794, affecting gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTCAAGAGCTTAACACAAACTAACTGCTGTCAAATATTTAACAAAAGCAAAGATGAAACTGCTTAACAGTCAGGGAAAAACAACAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTG... | TTCAAGAGCTTAACACAAACTAACTGCTGTCAAATATTTAACAAAAGCAAAGATGAAACTGCTTAACAGTCAGGGAAAAACAACAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTG... | pathogenic | 54,819 |
Is the chromosome 2, position 214728837 variant in BARD1 (BRCA1 associated RING domain 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Malignant_tumor_of_breast'] | AAAGCAAAGATGAAACTGCTTAACAGTCAGGGAAAAACAACAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGG... | AAAGCAAAGATGAAACTGCTTAACAGTCAGGGAAAAACAACAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGG... | pathogenic | 54,832 |
Gene mutation in BARD1 (BRCA1 associated RING domain 1) at chromosome 2, position 214728860—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAGTCAGGGAAAAACAACAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGA... | CAGTCAGGGAAAAACAACAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGA... | pathogenic | 54,844 |
A genetic variant at chromosome 2, position 214728865, affecting gene BARD1 (BRCA1 associated RING domain 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGGGAAAAACAACAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTG... | AGGGAAAAACAACAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTG... | pathogenic | 54,845 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 214728877, gene BARD1 (BRCA1 associated RING domain 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAA... | CAAAAAGAAGGGAGGGGTGATAAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAA... | pathogenic | 54,851 |
Does the chromosome 2 mutation at position 214728898 within gene BARD1 (BRCA1 associated RING domain 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast'] | AAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAATTCACCCAGCAAGGTCAGGGT... | AAACCAAGAAAATGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAATTCACCCAGCAAGGTCAGGGT... | pathogenic | 54,857 |
Evaluate if the mutation on chromosome 2 at position 214728910 in BARD1 (BRCA1 associated RING domain 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAATTCACCCAGCAAGGTCAGGGTCAAAAGGTTATT... | TGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAATTCACCCAGCAAGGTCAGGGTCAAAAGGTTATT... | pathogenic | 54,863 |
Regarding the variant found on chromosome 2 at position 214728910 in gene BARD1 (BRCA1 associated RING domain 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_cancer_of_breast'] | TGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAATTCACCCAGCAAGGTCAGGGTCAAAAGGTTATT... | TGAATGACAAAAACTAAGAGACCTCATAGGTGTCTTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAATTCACCCAGCAAGGTCAGGGTCAAAAGGTTATT... | pathogenic | 54,864 |
Chromosome 2, position 214728944, gene BARD1 (BRCA1 associated RING domain 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAATTCACCCAGCAAGGTCAGGGTCAAAAGGTTATTATTTTGTTCATATATTTCTTGATATGAAAAAACA... | TTTACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAATTCACCCAGCAAGGTCAGGGTCAAAAGGTTATTATTTTGTTCATATATTTCTTGATATGAAAAAACA... | pathogenic | 54,876 |
Determine if the mutation at chromosome 2, position 214728946 in gene BARD1 (BRCA1 associated RING domain 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAATTCACCCAGCAAGGTCAGGGTCAAAAGGTTATTATTTTGTTCATATATTTCTTGATATGAAAAAACAAC... | TACAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAATTCACCCAGCAAGGTCAGGGTCAAAAGGTTATTATTTTGTTCATATATTTCTTGATATGAAAAAACAAC... | pathogenic | 54,877 |
Clinical classification of chromosome 2, position 214728948, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | CAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAATTCACCCAGCAAGGTCAGGGTCAAAAGGTTATTATTTTGTTCATATATTTCTTGATATGAAAAAACAACAT... | CAATCAGGAATTCAGATGCAAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAATTCACCCAGCAAGGTCAGGGTCAAAAGGTTATTATTTTGTTCATATATTTCTTGATATGAAAAAACAACAT... | pathogenic | 54,878 |
Clinical significance of chromosome 2, position 214728967, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAATTCACCCAGCAAGGTCAGGGTCAAAAGGTTATTATTTTGTTCATATATTTCTTGATATGAAAAAACAACATGTCAAAGAAAGAATTAAAG... | AAGGAACAGACACAAACCTGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAATTCACCCAGCAAGGTCAGGGTCAAAAGGTTATTATTTTGTTCATATATTTCTTGATATGAAAAAACAACATGTCAAAGAAAGAATTAAAG... | pathogenic | 54,882 |
Is the chromosome 2, position 214728985 variant in BARD1 (BRCA1 associated RING domain 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast'] | TGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAATTCACCCAGCAAGGTCAGGGTCAAAAGGTTATTATTTTGTTCATATATTTCTTGATATGAAAAAACAACATGTCAAAGAAAGAATTAAAGCAAAATGTGTTTTCAAAT... | TGTCTAAAATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAATTCACCCAGCAAGGTCAGGGTCAAAAGGTTATTATTTTGTTCATATATTTCTTGATATGAAAAAACAACATGTCAAAGAAAGAATTAAAGCAAAATGTGTTTTCAAAT... | pathogenic | 54,887 |
Variant in BARD1 (BRCA1 associated RING domain 1), chromosome 2, position 214728993—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAATTCACCCAGCAAGGTCAGGGTCAAAAGGTTATTATTTTGTTCATATATTTCTTGATATGAAAAAACAACATGTCAAAGAAAGAATTAAAGCAAAATGTGTTTTCAAATGATAAACA... | ATGTGACCTATGAGGCAACAGAAAGTGACTTAAAGTCTGTTATAAATAAAAAATGACAACCAAAATCCTAGAGAGTCTTAAATTATTTAATCCAGACATTATCTAACGCCTCGGATTTTTGTTTGGTGCTATGGTGTTCATTTTCTATCAGAATGAAATGTGGGACAAATGCATTACTGGTTGTAGAGAGTGTTTCAGAGCTAATTCACCCAGCAAGGTCAGGGTCAAAAGGTTATTATTTTGTTCATATATTTCTTGATATGAAAAAACAACATGTCAAAGAAAGAATTAAAGCAAAATGTGTTTTCAAATGATAAACA... | pathogenic | 54,890 |
The genetic variant at chromosome 2, position 214730441, affecting gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCCTCATTAATCTTTGATACCCAATAATCTGAATAGAAAGACATGATAAATCAAAAACATGCCAATTTTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACA... | TCCTCATTAATCTTTGATACCCAATAATCTGAATAGAAAGACATGATAAATCAAAAACATGCCAATTTTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACA... | pathogenic | 54,916 |
For chromosome 2, position 214730457, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | ATACCCAATAATCTGAATAGAAAGACATGATAAATCAAAAACATGCCAATTTTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGC... | ATACCCAATAATCTGAATAGAAAGACATGATAAATCAAAAACATGCCAATTTTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGC... | pathogenic | 54,917 |
Clinical classification of chromosome 2, position 214730457, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Gastric_cancer'] | ATACCCAATAATCTGAATAGAAAGACATGATAAATCAAAAACATGCCAATTTTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGC... | ATACCCAATAATCTGAATAGAAAGACATGATAAATCAAAAACATGCCAATTTTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGC... | pathogenic | 54,918 |
Variant chromosome 2, position 214730462, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAATAATCTGAATAGAAAGACATGATAAATCAAAAACATGCCAATTTTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGCTCGAA... | CAATAATCTGAATAGAAAGACATGATAAATCAAAAACATGCCAATTTTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGCTCGAA... | pathogenic | 54,920 |
A genetic variant on chromosome 2, position 214730478, affects the gene BARD1 (BRCA1 associated RING domain 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | AAGACATGATAAATCAAAAACATGCCAATTTTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGCTCGAAGGAGCCTTCCAGACTT... | AAGACATGATAAATCAAAAACATGCCAATTTTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGCTCGAAGGAGCCTTCCAGACTT... | pathogenic | 54,926 |
Evaluate if the mutation on chromosome 2 at position 214745093 in BARD1 (BRCA1 associated RING domain 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TACTTCTCAAACTCATCATAACTAGGAGGGACTAATTAATAGGGATTGATGAGAACAGATGGAGTGGCATTGCTAGTCACAGCCTCTTAGCTGGATCAGACTGCATTGGTTGAGACAAGCATCACAAAAAAAGAAGTGGTAGCTGTATTTGAAAATGACATGAATACCAATTGATGAAAGGAAACTGTTTTACAAACCAAATCAACTTCTAACTACAGATTAAATTAATAACATAATTAAGATCTTGATAAATCAGGCATTCTACCATAAAACCTTCAAAGCACAAAGCCATAAAACCATTTTTATAAACTAATTTTAAT... | TACTTCTCAAACTCATCATAACTAGGAGGGACTAATTAATAGGGATTGATGAGAACAGATGGAGTGGCATTGCTAGTCACAGCCTCTTAGCTGGATCAGACTGCATTGGTTGAGACAAGCATCACAAAAAAAGAAGTGGTAGCTGTATTTGAAAATGACATGAATACCAATTGATGAAAGGAAACTGTTTTACAAACCAAATCAACTTCTAACTACAGATTAAATTAATAACATAATTAAGATCTTGATAAATCAGGCATTCTACCATAAAACCTTCAAAGCACAAAGCCATAAAACCATTTTTATAAACTAATTTTAAT... | pathogenic | 54,965 |
Regarding the variant found on chromosome 2 at position 214745097 in gene BARD1 (BRCA1 associated RING domain 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | TCTCAAACTCATCATAACTAGGAGGGACTAATTAATAGGGATTGATGAGAACAGATGGAGTGGCATTGCTAGTCACAGCCTCTTAGCTGGATCAGACTGCATTGGTTGAGACAAGCATCACAAAAAAAGAAGTGGTAGCTGTATTTGAAAATGACATGAATACCAATTGATGAAAGGAAACTGTTTTACAAACCAAATCAACTTCTAACTACAGATTAAATTAATAACATAATTAAGATCTTGATAAATCAGGCATTCTACCATAAAACCTTCAAAGCACAAAGCCATAAAACCATTTTTATAAACTAATTTTAATCCAT... | TCTCAAACTCATCATAACTAGGAGGGACTAATTAATAGGGATTGATGAGAACAGATGGAGTGGCATTGCTAGTCACAGCCTCTTAGCTGGATCAGACTGCATTGGTTGAGACAAGCATCACAAAAAAAGAAGTGGTAGCTGTATTTGAAAATGACATGAATACCAATTGATGAAAGGAAACTGTTTTACAAACCAAATCAACTTCTAACTACAGATTAAATTAATAACATAATTAAGATCTTGATAAATCAGGCATTCTACCATAAAACCTTCAAAGCACAAAGCCATAAAACCATTTTTATAAACTAATTTTAATCCAT... | pathogenic | 54,968 |
A genetic variant on chromosome 2, position 214745128, affects the gene BARD1 (BRCA1 associated RING domain 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTAATAGGGATTGATGAGAACAGATGGAGTGGCATTGCTAGTCACAGCCTCTTAGCTGGATCAGACTGCATTGGTTGAGACAAGCATCACAAAAAAAGAAGTGGTAGCTGTATTTGAAAATGACATGAATACCAATTGATGAAAGGAAACTGTTTTACAAACCAAATCAACTTCTAACTACAGATTAAATTAATAACATAATTAAGATCTTGATAAATCAGGCATTCTACCATAAAACCTTCAAAGCACAAAGCCATAAAACCATTTTTATAAACTAATTTTAATCCATCAGTTGCTTCATAAAGAGTTTCAATAAATAT... | TTAATAGGGATTGATGAGAACAGATGGAGTGGCATTGCTAGTCACAGCCTCTTAGCTGGATCAGACTGCATTGGTTGAGACAAGCATCACAAAAAAAGAAGTGGTAGCTGTATTTGAAAATGACATGAATACCAATTGATGAAAGGAAACTGTTTTACAAACCAAATCAACTTCTAACTACAGATTAAATTAATAACATAATTAAGATCTTGATAAATCAGGCATTCTACCATAAAACCTTCAAAGCACAAAGCCATAAAACCATTTTTATAAACTAATTTTAATCCATCAGTTGCTTCATAAAGAGTTTCAATAAATAT... | pathogenic | 54,974 |
Considering the genetic mutation at chromosome 2, position 214745140, impacting BARD1 (BRCA1 associated RING domain 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Malignant_tumor_of_breast'] | GATGAGAACAGATGGAGTGGCATTGCTAGTCACAGCCTCTTAGCTGGATCAGACTGCATTGGTTGAGACAAGCATCACAAAAAAAGAAGTGGTAGCTGTATTTGAAAATGACATGAATACCAATTGATGAAAGGAAACTGTTTTACAAACCAAATCAACTTCTAACTACAGATTAAATTAATAACATAATTAAGATCTTGATAAATCAGGCATTCTACCATAAAACCTTCAAAGCACAAAGCCATAAAACCATTTTTATAAACTAATTTTAATCCATCAGTTGCTTCATAAAGAGTTTCAATAAATATACCCACTGTTCT... | GATGAGAACAGATGGAGTGGCATTGCTAGTCACAGCCTCTTAGCTGGATCAGACTGCATTGGTTGAGACAAGCATCACAAAAAAAGAAGTGGTAGCTGTATTTGAAAATGACATGAATACCAATTGATGAAAGGAAACTGTTTTACAAACCAAATCAACTTCTAACTACAGATTAAATTAATAACATAATTAAGATCTTGATAAATCAGGCATTCTACCATAAAACCTTCAAAGCACAAAGCCATAAAACCATTTTTATAAACTAATTTTAATCCATCAGTTGCTTCATAAAGAGTTTCAATAAATATACCCACTGTTCT... | pathogenic | 54,975 |
Variant in BARD1 (BRCA1 associated RING domain 1), chromosome 2, position 214745151—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['BARD1-related_disorder', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATGGAGTGGCATTGCTAGTCACAGCCTCTTAGCTGGATCAGACTGCATTGGTTGAGACAAGCATCACAAAAAAAGAAGTGGTAGCTGTATTTGAAAATGACATGAATACCAATTGATGAAAGGAAACTGTTTTACAAACCAAATCAACTTCTAACTACAGATTAAATTAATAACATAATTAAGATCTTGATAAATCAGGCATTCTACCATAAAACCTTCAAAGCACAAAGCCATAAAACCATTTTTATAAACTAATTTTAATCCATCAGTTGCTTCATAAAGAGTTTCAATAAATATACCCACTGTTCTTTCTTAACATC... | ATGGAGTGGCATTGCTAGTCACAGCCTCTTAGCTGGATCAGACTGCATTGGTTGAGACAAGCATCACAAAAAAAGAAGTGGTAGCTGTATTTGAAAATGACATGAATACCAATTGATGAAAGGAAACTGTTTTACAAACCAAATCAACTTCTAACTACAGATTAAATTAATAACATAATTAAGATCTTGATAAATCAGGCATTCTACCATAAAACCTTCAAAGCACAAAGCCATAAAACCATTTTTATAAACTAATTTTAATCCATCAGTTGCTTCATAAAGAGTTTCAATAAATATACCCACTGTTCTTTCTTAACATC... | pathogenic | 54,979 |
Mutation at chromosome 2, position 214745160, within BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast'] | CATTGCTAGTCACAGCCTCTTAGCTGGATCAGACTGCATTGGTTGAGACAAGCATCACAAAAAAAGAAGTGGTAGCTGTATTTGAAAATGACATGAATACCAATTGATGAAAGGAAACTGTTTTACAAACCAAATCAACTTCTAACTACAGATTAAATTAATAACATAATTAAGATCTTGATAAATCAGGCATTCTACCATAAAACCTTCAAAGCACAAAGCCATAAAACCATTTTTATAAACTAATTTTAATCCATCAGTTGCTTCATAAAGAGTTTCAATAAATATACCCACTGTTCTTTCTTAACATCTTATTTAAA... | CATTGCTAGTCACAGCCTCTTAGCTGGATCAGACTGCATTGGTTGAGACAAGCATCACAAAAAAAGAAGTGGTAGCTGTATTTGAAAATGACATGAATACCAATTGATGAAAGGAAACTGTTTTACAAACCAAATCAACTTCTAACTACAGATTAAATTAATAACATAATTAAGATCTTGATAAATCAGGCATTCTACCATAAAACCTTCAAAGCACAAAGCCATAAAACCATTTTTATAAACTAATTTTAATCCATCAGTTGCTTCATAAAGAGTTTCAATAAATATACCCACTGTTCTTTCTTAACATCTTATTTAAA... | pathogenic | 54,982 |
Is the genetic variant on chromosome 2, position 214745168, gene BARD1 (BRCA1 associated RING domain 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GTCACAGCCTCTTAGCTGGATCAGACTGCATTGGTTGAGACAAGCATCACAAAAAAAGAAGTGGTAGCTGTATTTGAAAATGACATGAATACCAATTGATGAAAGGAAACTGTTTTACAAACCAAATCAACTTCTAACTACAGATTAAATTAATAACATAATTAAGATCTTGATAAATCAGGCATTCTACCATAAAACCTTCAAAGCACAAAGCCATAAAACCATTTTTATAAACTAATTTTAATCCATCAGTTGCTTCATAAAGAGTTTCAATAAATATACCCACTGTTCTTTCTTAACATCTTATTTAAAAATAATTA... | GTCACAGCCTCTTAGCTGGATCAGACTGCATTGGTTGAGACAAGCATCACAAAAAAAGAAGTGGTAGCTGTATTTGAAAATGACATGAATACCAATTGATGAAAGGAAACTGTTTTACAAACCAAATCAACTTCTAACTACAGATTAAATTAATAACATAATTAAGATCTTGATAAATCAGGCATTCTACCATAAAACCTTCAAAGCACAAAGCCATAAAACCATTTTTATAAACTAATTTTAATCCATCAGTTGCTTCATAAAGAGTTTCAATAAATATACCCACTGTTCTTTCTTAACATCTTATTTAAAAATAATTA... | benign | 54,985 |
Located at chromosome 2 position 214745722, the variant affecting gene BARD1 (BRCA1 associated RING domain 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCCGGGGTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTT... | CCCGGGGTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTT... | pathogenic | 55,000 |
Variant at chromosome 2, position 214745727, gene BARD1 (BRCA1 associated RING domain 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAA... | GGTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAA... | pathogenic | 55,002 |
Determine whether the variant at chromosome 2, position 214745738, in gene BARD1 (BRCA1 associated RING domain 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTT... | TCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTT... | pathogenic | 55,005 |
Benign or pathogenic: chromosome 2, position 214745739, gene BARD1 (BRCA1 associated RING domain 1) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | CTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTT... | CTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTT... | pathogenic | 55,006 |
Is the variant located on chromosome 2 at position 214745739, gene BARD1 (BRCA1 associated RING domain 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_cancer_of_breast'] | CTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTT... | CTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTT... | pathogenic | 55,007 |
Gene BARD1 (BRCA1 associated RING domain 1) variant at chromosome position 214745743 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGCCTCAGCCTCCCAAGTGGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTA... | TGCCTCAGCCTCCCAAGTGGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTA... | pathogenic | 55,009 |
Evaluate if the mutation on chromosome 2 at position 214745743 in BARD1 (BRCA1 associated RING domain 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | TGCCTCAGCCTCCCAAGTGGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTA... | TGCCTCAGCCTCCCAAGTGGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTA... | pathogenic | 55,010 |
A genetic alteration at chromosome 2, position 214745760, in gene BARD1 (BRCA1 associated RING domain 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTAAACAATTAATAAACAAA... | TGGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTAAACAATTAATAAACAAA... | pathogenic | 55,015 |
A mutation at chromosome position 214745766 on chromosome 2 in gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_cancer_of_breast'] | GGATTACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTAAACAATTAATAAACAAAAAAAGG... | GGATTACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTAAACAATTAATAAACAAAAAAAGG... | pathogenic | 55,018 |
For chromosome 2, position 214745770, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast'] | TACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTAAACAATTAATAAACAAAAAAAGGTCAA... | TACAGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTAAACAATTAATAAACAAAAAAAGGTCAA... | pathogenic | 55,019 |
Benign or pathogenic: chromosome 2, position 214745773, gene BARD1 (BRCA1 associated RING domain 1) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTAAACAATTAATAAACAAAAAAAGGTCAATCC... | AGGCATGTGCCACCACGCCTGGCTCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTAAACAATTAATAAACAAAAAAAGGTCAATCC... | pathogenic | 55,021 |
Is the genetic mutation found on chromosome 2 at position 214745796, within the gene BARD1 (BRCA1 associated RING domain 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast'] | TCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTAAACAATTAATAAACAAAAAAAGGTCAATCCACTGTTCTATGTTAGCCATAGTA... | TCATTTTTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTAAACAATTAATAAACAAAAAAAGGTCAATCCACTGTTCTATGTTAGCCATAGTA... | pathogenic | 55,029 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 214745802, gene BARD1 (BRCA1 associated RING domain 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTAAACAATTAATAAACAAAAAAAGGTCAATCCACTGTTCTATGTTAGCCATAGTATCAAAA... | TTCTATTTTTAGTACAGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTAAACAATTAATAAACAAAAAAAGGTCAATCCACTGTTCTATGTTAGCCATAGTATCAAAA... | pathogenic | 55,032 |
Variant in gene BARD1 (BRCA1 associated RING domain 1), located at chromosome 2 position 214745817: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTAAACAATTAATAAACAAAAAAAGGTCAATCCACTGTTCTATGTTAGCCATAGTATCAAAAGTAGATATGTTAACT... | AGAAGGGGGTTTGCCATGTTGGCCTGGCTGGTCTGCCTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTAAACAATTAATAAACAAAAAAAGGTCAATCCACTGTTCTATGTTAGCCATAGTATCAAAAGTAGATATGTTAACT... | pathogenic | 55,036 |
Is chromosome 2, position 214745853, gene BARD1 (BRCA1 associated RING domain 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTAAACAATTAATAAACAAAAAAAGGTCAATCCACTGTTCTATGTTAGCCATAGTATCAAAAGTAGATATGTTAACTATTAAGGAGTAGAAAATAATCGTGTATGAGCTTTCT... | CTGCCTCGGTCGCCCAAAGTGCTAAGATTACAGGCATGAGCTACCGTGCCTGGCCTGATTTCACTGGTTATAAATGCACTTGTTTGCATAATTTTATCTCAGGTAGTCTTGTGTTACATGGCCACCACTAACATCAAGATACGCAACTGTATTGCTCCCCACATTCCTCCTCTGTAACCACTAATCTTTTGTAACTACTAATCTTTTGTAAACAATTAATAAACAAAAAAAGGTCAATCCACTGTTCTATGTTAGCCATAGTATCAAAAGTAGATATGTTAACTATTAAGGAGTAGAAAATAATCGTGTATGAGCTTTCT... | pathogenic | 55,046 |
Clinical classification of chromosome 2, position 214752423, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | TTCACAATCTGGTCCCAACCTAACCCTTTACCCTGAATCCCTCTTAAACACACGTCATACTCCTCTCACAGTAAATGCTATAGTTTCTCAAATTCCTAAGGTCCTTTATGCCTCCTTGTCTCTGAGCAGCTGTTCCTTAGATTTGGGCTGCCATTCTCACTTTGTACACCTGACTGCAGTGGGGAATGTTGGCTGTTACACTCAAAATCTATTGCTCACTTCCTCCACACTAACAGAAGCCCAGTTTTGTTCAGGTAGCCCCCCTTTCAAAGACTGACCCTAACCTCCAGCCCCAGGAGGGGCTGTCAAAATCAATTTCT... | TTCACAATCTGGTCCCAACCTAACCCTTTACCCTGAATCCCTCTTAAACACACGTCATACTCCTCTCACAGTAAATGCTATAGTTTCTCAAATTCCTAAGGTCCTTTATGCCTCCTTGTCTCTGAGCAGCTGTTCCTTAGATTTGGGCTGCCATTCTCACTTTGTACACCTGACTGCAGTGGGGAATGTTGGCTGTTACACTCAAAATCTATTGCTCACTTCCTCCACACTAACAGAAGCCCAGTTTTGTTCAGGTAGCCCCCCTTTCAAAGACTGACCCTAACCTCCAGCCCCAGGAGGGGCTGTCAAAATCAATTTCT... | pathogenic | 55,062 |
Variant at chromosome position 214752458, chromosome 2, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATCCCTCTTAAACACACGTCATACTCCTCTCACAGTAAATGCTATAGTTTCTCAAATTCCTAAGGTCCTTTATGCCTCCTTGTCTCTGAGCAGCTGTTCCTTAGATTTGGGCTGCCATTCTCACTTTGTACACCTGACTGCAGTGGGGAATGTTGGCTGTTACACTCAAAATCTATTGCTCACTTCCTCCACACTAACAGAAGCCCAGTTTTGTTCAGGTAGCCCCCCTTTCAAAGACTGACCCTAACCTCCAGCCCCAGGAGGGGCTGTCAAAATCAATTTCTGACAATAAGACACAGGGGAAGTCCACGGAAAGGCT... | AATCCCTCTTAAACACACGTCATACTCCTCTCACAGTAAATGCTATAGTTTCTCAAATTCCTAAGGTCCTTTATGCCTCCTTGTCTCTGAGCAGCTGTTCCTTAGATTTGGGCTGCCATTCTCACTTTGTACACCTGACTGCAGTGGGGAATGTTGGCTGTTACACTCAAAATCTATTGCTCACTTCCTCCACACTAACAGAAGCCCAGTTTTGTTCAGGTAGCCCCCCTTTCAAAGACTGACCCTAACCTCCAGCCCCAGGAGGGGCTGTCAAAATCAATTTCTGACAATAAGACACAGGGGAAGTCCACGGAAAGGCT... | pathogenic | 55,072 |
Gene BARD1 (BRCA1 associated RING domain 1) variant at chromosome position 214752460 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast'] | TCCCTCTTAAACACACGTCATACTCCTCTCACAGTAAATGCTATAGTTTCTCAAATTCCTAAGGTCCTTTATGCCTCCTTGTCTCTGAGCAGCTGTTCCTTAGATTTGGGCTGCCATTCTCACTTTGTACACCTGACTGCAGTGGGGAATGTTGGCTGTTACACTCAAAATCTATTGCTCACTTCCTCCACACTAACAGAAGCCCAGTTTTGTTCAGGTAGCCCCCCTTTCAAAGACTGACCCTAACCTCCAGCCCCAGGAGGGGCTGTCAAAATCAATTTCTGACAATAAGACACAGGGGAAGTCCACGGAAAGGCTTC... | TCCCTCTTAAACACACGTCATACTCCTCTCACAGTAAATGCTATAGTTTCTCAAATTCCTAAGGTCCTTTATGCCTCCTTGTCTCTGAGCAGCTGTTCCTTAGATTTGGGCTGCCATTCTCACTTTGTACACCTGACTGCAGTGGGGAATGTTGGCTGTTACACTCAAAATCTATTGCTCACTTCCTCCACACTAACAGAAGCCCAGTTTTGTTCAGGTAGCCCCCCTTTCAAAGACTGACCCTAACCTCCAGCCCCAGGAGGGGCTGTCAAAATCAATTTCTGACAATAAGACACAGGGGAAGTCCACGGAAAGGCTTC... | pathogenic | 55,073 |
Gene BARD1 (BRCA1 associated RING domain 1) variant at chromosome position 214752467 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAAACACACGTCATACTCCTCTCACAGTAAATGCTATAGTTTCTCAAATTCCTAAGGTCCTTTATGCCTCCTTGTCTCTGAGCAGCTGTTCCTTAGATTTGGGCTGCCATTCTCACTTTGTACACCTGACTGCAGTGGGGAATGTTGGCTGTTACACTCAAAATCTATTGCTCACTTCCTCCACACTAACAGAAGCCCAGTTTTGTTCAGGTAGCCCCCCTTTCAAAGACTGACCCTAACCTCCAGCCCCAGGAGGGGCTGTCAAAATCAATTTCTGACAATAAGACACAGGGGAAGTCCACGGAAAGGCTTCAGGGAAA... | TAAACACACGTCATACTCCTCTCACAGTAAATGCTATAGTTTCTCAAATTCCTAAGGTCCTTTATGCCTCCTTGTCTCTGAGCAGCTGTTCCTTAGATTTGGGCTGCCATTCTCACTTTGTACACCTGACTGCAGTGGGGAATGTTGGCTGTTACACTCAAAATCTATTGCTCACTTCCTCCACACTAACAGAAGCCCAGTTTTGTTCAGGTAGCCCCCCTTTCAAAGACTGACCCTAACCTCCAGCCCCAGGAGGGGCTGTCAAAATCAATTTCTGACAATAAGACACAGGGGAAGTCCACGGAAAGGCTTCAGGGAAA... | pathogenic | 55,077 |
Does the genetic variant at chromosome 2, position 214752478, impacting gene BARD1 (BRCA1 associated RING domain 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | CATACTCCTCTCACAGTAAATGCTATAGTTTCTCAAATTCCTAAGGTCCTTTATGCCTCCTTGTCTCTGAGCAGCTGTTCCTTAGATTTGGGCTGCCATTCTCACTTTGTACACCTGACTGCAGTGGGGAATGTTGGCTGTTACACTCAAAATCTATTGCTCACTTCCTCCACACTAACAGAAGCCCAGTTTTGTTCAGGTAGCCCCCCTTTCAAAGACTGACCCTAACCTCCAGCCCCAGGAGGGGCTGTCAAAATCAATTTCTGACAATAAGACACAGGGGAAGTCCACGGAAAGGCTTCAGGGAAAGACTTTAGTGT... | CATACTCCTCTCACAGTAAATGCTATAGTTTCTCAAATTCCTAAGGTCCTTTATGCCTCCTTGTCTCTGAGCAGCTGTTCCTTAGATTTGGGCTGCCATTCTCACTTTGTACACCTGACTGCAGTGGGGAATGTTGGCTGTTACACTCAAAATCTATTGCTCACTTCCTCCACACTAACAGAAGCCCAGTTTTGTTCAGGTAGCCCCCCTTTCAAAGACTGACCCTAACCTCCAGCCCCAGGAGGGGCTGTCAAAATCAATTTCTGACAATAAGACACAGGGGAAGTCCACGGAAAGGCTTCAGGGAAAGACTTTAGTGT... | pathogenic | 55,081 |
Regarding the variant at chromosome 2 and position 214752503, affecting gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAGTTTCTCAAATTCCTAAGGTCCTTTATGCCTCCTTGTCTCTGAGCAGCTGTTCCTTAGATTTGGGCTGCCATTCTCACTTTGTACACCTGACTGCAGTGGGGAATGTTGGCTGTTACACTCAAAATCTATTGCTCACTTCCTCCACACTAACAGAAGCCCAGTTTTGTTCAGGTAGCCCCCCTTTCAAAGACTGACCCTAACCTCCAGCCCCAGGAGGGGCTGTCAAAATCAATTTCTGACAATAAGACACAGGGGAAGTCCACGGAAAGGCTTCAGGGAAAGACTTTAGTGTCTCTTTTTCAGTTGGCCACTGTCAT... | TAGTTTCTCAAATTCCTAAGGTCCTTTATGCCTCCTTGTCTCTGAGCAGCTGTTCCTTAGATTTGGGCTGCCATTCTCACTTTGTACACCTGACTGCAGTGGGGAATGTTGGCTGTTACACTCAAAATCTATTGCTCACTTCCTCCACACTAACAGAAGCCCAGTTTTGTTCAGGTAGCCCCCCTTTCAAAGACTGACCCTAACCTCCAGCCCCAGGAGGGGCTGTCAAAATCAATTTCTGACAATAAGACACAGGGGAAGTCCACGGAAAGGCTTCAGGGAAAGACTTTAGTGTCTCTTTTTCAGTTGGCCACTGTCAT... | pathogenic | 55,093 |
Considering the genetic mutation at chromosome 2, position 214752506, impacting BARD1 (BRCA1 associated RING domain 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTCTCAAATTCCTAAGGTCCTTTATGCCTCCTTGTCTCTGAGCAGCTGTTCCTTAGATTTGGGCTGCCATTCTCACTTTGTACACCTGACTGCAGTGGGGAATGTTGGCTGTTACACTCAAAATCTATTGCTCACTTCCTCCACACTAACAGAAGCCCAGTTTTGTTCAGGTAGCCCCCCTTTCAAAGACTGACCCTAACCTCCAGCCCCAGGAGGGGCTGTCAAAATCAATTTCTGACAATAAGACACAGGGGAAGTCCACGGAAAGGCTTCAGGGAAAGACTTTAGTGTCTCTTTTTCAGTTGGCCACTGTCATATC... | TTTCTCAAATTCCTAAGGTCCTTTATGCCTCCTTGTCTCTGAGCAGCTGTTCCTTAGATTTGGGCTGCCATTCTCACTTTGTACACCTGACTGCAGTGGGGAATGTTGGCTGTTACACTCAAAATCTATTGCTCACTTCCTCCACACTAACAGAAGCCCAGTTTTGTTCAGGTAGCCCCCCTTTCAAAGACTGACCCTAACCTCCAGCCCCAGGAGGGGCTGTCAAAATCAATTTCTGACAATAAGACACAGGGGAAGTCCACGGAAAGGCTTCAGGGAAAGACTTTAGTGTCTCTTTTTCAGTTGGCCACTGTCATATC... | pathogenic | 55,095 |
Variant at chromosome position 214752574, chromosome 2, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CATTCTCACTTTGTACACCTGACTGCAGTGGGGAATGTTGGCTGTTACACTCAAAATCTATTGCTCACTTCCTCCACACTAACAGAAGCCCAGTTTTGTTCAGGTAGCCCCCCTTTCAAAGACTGACCCTAACCTCCAGCCCCAGGAGGGGCTGTCAAAATCAATTTCTGACAATAAGACACAGGGGAAGTCCACGGAAAGGCTTCAGGGAAAGACTTTAGTGTCTCTTTTTCAGTTGGCCACTGTCATATCTAGAATTGTGGCAATCATTCGACAACCATTAAAGGAAACTTCTTAGTGAGGACAAATCCCCCAAACTG... | CATTCTCACTTTGTACACCTGACTGCAGTGGGGAATGTTGGCTGTTACACTCAAAATCTATTGCTCACTTCCTCCACACTAACAGAAGCCCAGTTTTGTTCAGGTAGCCCCCCTTTCAAAGACTGACCCTAACCTCCAGCCCCAGGAGGGGCTGTCAAAATCAATTTCTGACAATAAGACACAGGGGAAGTCCACGGAAAGGCTTCAGGGAAAGACTTTAGTGTCTCTTTTTCAGTTGGCCACTGTCATATCTAGAATTGTGGCAATCATTCGACAACCATTAAAGGAAACTTCTTAGTGAGGACAAATCCCCCAAACTG... | benign | 55,119 |
Evaluate this variant at chromosome 2, position 214767506, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTATAGGTGAGGACACCAAGGCACAGAAATTAACCTGCCTGAAGCTATACAGTCAGTAATGGAGTCACAAATAAAAGCTAGATTCCCTAACGCCCTGACCAGTGCTCCATCCATTAAAGTAGTCATGGCTGATTTAAGAACCCTAGAATGAAAACTAGTCAGTTTCACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAA... | TTTATAGGTGAGGACACCAAGGCACAGAAATTAACCTGCCTGAAGCTATACAGTCAGTAATGGAGTCACAAATAAAAGCTAGATTCCCTAACGCCCTGACCAGTGCTCCATCCATTAAAGTAGTCATGGCTGATTTAAGAACCCTAGAATGAAAACTAGTCAGTTTCACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAA... | pathogenic | 55,146 |
Gene mutation in BARD1 (BRCA1 associated RING domain 1) at chromosome 2, position 214767521—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_cancer_of_breast'] | ACCAAGGCACAGAAATTAACCTGCCTGAAGCTATACAGTCAGTAATGGAGTCACAAATAAAAGCTAGATTCCCTAACGCCCTGACCAGTGCTCCATCCATTAAAGTAGTCATGGCTGATTTAAGAACCCTAGAATGAAAACTAGTCAGTTTCACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATAC... | ACCAAGGCACAGAAATTAACCTGCCTGAAGCTATACAGTCAGTAATGGAGTCACAAATAAAAGCTAGATTCCCTAACGCCCTGACCAGTGCTCCATCCATTAAAGTAGTCATGGCTGATTTAAGAACCCTAGAATGAAAACTAGTCAGTTTCACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATAC... | pathogenic | 55,152 |
Mutation at chromosome 2, position 214767531, within BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AGAAATTAACCTGCCTGAAGCTATACAGTCAGTAATGGAGTCACAAATAAAAGCTAGATTCCCTAACGCCCTGACCAGTGCTCCATCCATTAAAGTAGTCATGGCTGATTTAAGAACCCTAGAATGAAAACTAGTCAGTTTCACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATACACATCCCCTG... | AGAAATTAACCTGCCTGAAGCTATACAGTCAGTAATGGAGTCACAAATAAAAGCTAGATTCCCTAACGCCCTGACCAGTGCTCCATCCATTAAAGTAGTCATGGCTGATTTAAGAACCCTAGAATGAAAACTAGTCAGTTTCACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATACACATCCCCTG... | benign | 55,155 |
Variant on chromosome 2, at position 214767537, affecting BARD1 (BRCA1 associated RING domain 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAACCTGCCTGAAGCTATACAGTCAGTAATGGAGTCACAAATAAAAGCTAGATTCCCTAACGCCCTGACCAGTGCTCCATCCATTAAAGTAGTCATGGCTGATTTAAGAACCCTAGAATGAAAACTAGTCAGTTTCACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATACACATCCCCTGAATTTG... | TAACCTGCCTGAAGCTATACAGTCAGTAATGGAGTCACAAATAAAAGCTAGATTCCCTAACGCCCTGACCAGTGCTCCATCCATTAAAGTAGTCATGGCTGATTTAAGAACCCTAGAATGAAAACTAGTCAGTTTCACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATACACATCCCCTGAATTTG... | pathogenic | 55,158 |
The genetic variant at chromosome 2, position 214767550, affecting gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | GCTATACAGTCAGTAATGGAGTCACAAATAAAAGCTAGATTCCCTAACGCCCTGACCAGTGCTCCATCCATTAAAGTAGTCATGGCTGATTTAAGAACCCTAGAATGAAAACTAGTCAGTTTCACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATACACATCCCCTGAATTTGCCCCAATTATCTT... | GCTATACAGTCAGTAATGGAGTCACAAATAAAAGCTAGATTCCCTAACGCCCTGACCAGTGCTCCATCCATTAAAGTAGTCATGGCTGATTTAAGAACCCTAGAATGAAAACTAGTCAGTTTCACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATACACATCCCCTGAATTTGCCCCAATTATCTT... | pathogenic | 55,159 |
Chromosome 2, position 214767568, gene BARD1 (BRCA1 associated RING domain 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAGTCACAAATAAAAGCTAGATTCCCTAACGCCCTGACCAGTGCTCCATCCATTAAAGTAGTCATGGCTGATTTAAGAACCCTAGAATGAAAACTAGTCAGTTTCACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATACACATCCCCTGAATTTGCCCCAATTATCTTATAACCTGTGATGAGAGA... | GAGTCACAAATAAAAGCTAGATTCCCTAACGCCCTGACCAGTGCTCCATCCATTAAAGTAGTCATGGCTGATTTAAGAACCCTAGAATGAAAACTAGTCAGTTTCACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATACACATCCCCTGAATTTGCCCCAATTATCTTATAACCTGTGATGAGAGA... | pathogenic | 55,166 |
The mutation impacting BARD1 (BRCA1 associated RING domain 1) on chromosome 2 at position 214767575: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAATAAAAGCTAGATTCCCTAACGCCCTGACCAGTGCTCCATCCATTAAAGTAGTCATGGCTGATTTAAGAACCCTAGAATGAAAACTAGTCAGTTTCACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATACACATCCCCTGAATTTGCCCCAATTATCTTATAACCTGTGATGAGAGATAAAAGA... | AAATAAAAGCTAGATTCCCTAACGCCCTGACCAGTGCTCCATCCATTAAAGTAGTCATGGCTGATTTAAGAACCCTAGAATGAAAACTAGTCAGTTTCACCTGACCCAAGCAATAATTTGCGTTACCAAATAGCTTGCAACACATATGGGAGGGTCATATCGGTTAGGTCCTTACAAAGAAATAGGTCCATGTATATGGAGACACACACAAACACGCACGTGTGTACACACACACACACACACAAATAAAAACCGGAAGAATATACACATCCCCTGAATTTGCCCCAATTATCTTATAACCTGTGATGAGAGATAAAAGA... | pathogenic | 55,169 |
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