question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Variant in KCNQ1 (potassium voltage-gated channel subfamily Q member 1), chromosome 11, position 2570748—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_1'] | CTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG... | CTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG... | pathogenic | 170,593 |
Does the variant on chromosome 11 at location 2571373 affecting gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Long_QT_syndrome'] | CCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCA... | CCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACGTGGGGGCTGGTTTCATCTTCCAGCCCCA... | pathogenic | 170,614 |
Clinical significance of chromosome 11, position 2572019, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Long_QT_syndrome'] | TCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGA... | TCCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGA... | pathogenic | 170,629 |
A mutation at chromosome position 2572033 on chromosome 11 in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Long_QT_syndrome'] | AAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCA... | AAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCA... | pathogenic | 170,634 |
Classify the chromosome 11 variant at position 2572061 affecting gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Long_QT_syndrome'] | GGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCT... | GGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCT... | pathogenic | 170,645 |
Determine if the mutation at chromosome 11, position 2572068 in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_1'] | CAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCA... | CAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCA... | pathogenic | 170,646 |
Clinical classification of chromosome 11, position 2572072, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | CTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGC... | CTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGC... | pathogenic | 170,648 |
The mutation in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) at chromosome 11, position 2572099—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Atrial_fibrillation,_familial,_3', 'Jervell_and_Lange-Nielsen_syndrome_1', 'Long_QT_syndrome', 'Long_QT_syndrome_1', 'Short_QT_syndrome_type_2'] | GGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCT... | GGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCT... | pathogenic | 170,651 |
Does the genetic variant at chromosome 11, position 2572826, impacting gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCAC... | GGTCACGCCCAGGTTTCCAGACCAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCAC... | benign | 170,663 |
Evaluate the clinical significance of the mutation at chromosome 11, position 2572858 in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Atrial_fibrillation,_familial,_3', 'Beckwith-Wiedemann_syndrome', 'Cardiovascular_phenotype', 'Jervell_and_Lange-Nielsen_syndrome_1', 'Long_QT_syndrome', 'Long_QT_syndrome_1', 'Short_QT_syndrome_type_2'] | CCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGG... | CCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGG... | pathogenic | 170,667 |
Regarding the variant at chromosome 11 and position 2572885, affecting gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_1'] | AGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTT... | AGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTT... | pathogenic | 170,675 |
Evaluate if the mutation on chromosome 11 at position 2572889 in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_1', 'likely other unspecified diseases'] | CCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGA... | CCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGA... | pathogenic | 170,676 |
Is the genetic change at chromosome 11, position 2572922, within gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome'] | GGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCAT... | GGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCAT... | pathogenic | 170,685 |
Does the chromosome 11 mutation at position 2572975 within gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Long_QT_syndrome'] | GCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGAC... | GCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGAC... | pathogenic | 170,701 |
Is the variant located on chromosome 11 at position 2572978, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype', 'Congenital_long_QT_syndrome', 'Long_QT_syndrome'] | CTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAG... | CTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAG... | pathogenic | 170,702 |
Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) variant at chromosome position 2572981 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | AGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGC... | AGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGC... | pathogenic | 170,708 |
Gene mutation in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) at chromosome 11, position 2583507—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Atrial_fibrillation,_familial,_3', 'Beckwith-Wiedemann_syndrome', 'Cardiovascular_phenotype', 'Jervell_and_Lange-Nielsen_syndrome_1', 'KCNQ1-related_disorder', 'Long_QT_syndrome', 'Long_QT_syndrome_1', 'Short_QT_syndrome_type_2'] | TCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGG... | TCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGG... | pathogenic | 170,746 |
Is the genetic variant on chromosome 11, position 2583526, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Atrial_fibrillation,_familial,_3', 'Beckwith-Wiedemann_syndrome', 'Cardiovascular_phenotype', 'Jervell_and_Lange-Nielsen_syndrome_1', 'Long_QT_syndrome', 'Long_QT_syndrome_1', 'Short_QT_syndrome_type_2'] | AGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCAC... | AGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCAC... | pathogenic | 170,750 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 2585299, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_1'] | GGGAGACATGTGCCATCCCGCGGCTCTGTTCCTGGTGCTTTCGCCGAGTCACACGGGGTCGTCCTGGTGGTCAGGGTCTCTTGCCGGCCTCTCCGCTCATCAGAGTGGTGGGTTTGGGTTAGGCAGTTGGCCCTCCCGAGGCTCCAGTCCCATCCGTGGCTGACCACTGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAGACCATCGCCTCCTGCTTCTCTGTCTTTGCCATCTCCTTCTTTGCGCTCCCAGCGGTAGGTGCCCCGTGGGTGCGTTTTC... | GGGAGACATGTGCCATCCCGCGGCTCTGTTCCTGGTGCTTTCGCCGAGTCACACGGGGTCGTCCTGGTGGTCAGGGTCTCTTGCCGGCCTCTCCGCTCATCAGAGTGGTGGGTTTGGGTTAGGCAGTTGGCCCTCCCGAGGCTCCAGTCCCATCCGTGGCTGACCACTGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAGACCATCGCCTCCTGCTTCTCTGTCTTTGCCATCTCCTTCTTTGCGCTCCCAGCGGTAGGTGCCCCGTGGGTGCGTTTTC... | pathogenic | 170,792 |
Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) variant at chromosome 11, position 2587636—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_1'] | CTGAGGCTCCCTTGTGCTCCCATTCTCCCTCCCACTGCACAACAACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGG... | CTGAGGCTCCCTTGTGCTCCCATTCTCCCTCCCACTGCACAACAACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGG... | pathogenic | 170,810 |
Is the genetic variant on chromosome 11, position 2587679, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Long_QT_syndrome'] | AACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGA... | AACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGA... | pathogenic | 170,816 |
Does the chromosome 11 mutation at position 2587690 within gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome_1'] | TGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGAATGGGACTGCT... | TGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGGCAGGAAGGTTCTGGAGGCAGGTGGGGAGGCAGGCAGTACCAAGCTCTGGGATGCTGGGCTCTGGCTCTGTCACTCCAGGCTCTCCAGGACCCACCAGAGAATGGGACTGCT... | pathogenic | 170,818 |
Is the chromosome 11, position 2588702 variant in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGG... | GTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGG... | benign | 170,826 |
Chromosome 11, position 2588702, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGG... | GTGTAACACTCGGGCCTTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGG... | benign | 170,828 |
Considering the variant on chromosome 11, location 2588718, involving gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Atrial_fibrillation,_familial,_3', 'Beckwith-Wiedemann_syndrome', 'Cardiovascular_phenotype', 'Ear_malformation', 'Jervell_and_Lange-Nielsen_syndrome', 'Jervell_and_Lange-Nielsen_syndrome_1', 'Long_QT_syndrome', 'Long_QT_syndrome_1', 'Short_QT_syndrome_type_2'] | TTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCT... | TTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCT... | pathogenic | 170,833 |
Is chromosome 11, position 2588718, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_1'] | TTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCT... | TTGGAAGGCTGGGCTTGTGCCCTCGCCTGCCTGTCCCTGGGTGCTGGATGGGAGTGAGGGCTGCAGGTGCCCCTCGCCAGCTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCT... | pathogenic | 170,834 |
Regarding the variant at chromosome 11 and position 2588798, affecting gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Atrial_fibrillation,_familial,_3', 'Cardiovascular_phenotype', 'Congenital_long_QT_syndrome', 'Jervell_and_Lange-Nielsen_syndrome_1', 'Long_QT_syndrome', 'Long_QT_syndrome_1', 'Short_QT_syndrome_type_2'] | CTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGA... | CTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGA... | pathogenic | 170,847 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 2588798, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): what disease(s) if pathogenic? | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_1'] | CTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGA... | CTGCTGTGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGA... | pathogenic | 170,848 |
Located at chromosome 11 position 2588804, the variant affecting gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Long_QT_syndrome'] | TGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACC... | TGTCTACCTGGGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACC... | pathogenic | 170,850 |
Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) variant at chromosome 11, position 2588814—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | GGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTG... | GGGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTG... | pathogenic | 170,852 |
Clinical significance of chromosome 11, position 2588815, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype'] | GGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGC... | GGCTGTCACCCAGGAGCCCATCAGTGTGGGGGAACATTCTCCACTCGGCCCTCTCTCAGGCTCATGTGGCCAGTGATGACAAGGCCACCAGGACATGTCCTCATACAAGGCCCTGGGAGCCCCTCCTGCCCATCTGGACGCTGCACAACTGCTCCCCCGCCGGGTCCCCTGCCGATAGTGTCCCCTCCTCCCACCCTTCCCTTGTGGTGCTGCCATGGGGTCTCTCTGAAATGCTGGCTTCAGAGCTGCACCCATGTGCCATCAGAGGCTCCCCCAACTGCAAGGTGGTATAGGCCTCTGGGAGAGACCTCACCTCCTGC... | pathogenic | 170,853 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 2661944, gene KCNQ1. What disease(s) is it linked to if pathogenic? | benign | TTTATTGTCAAGTTGTAAGCATTCTTTATATATTCTGAGTGCAAGTCCTTGACCTGATAGGTGATATGCAAATATTCTTTCCAAGTCTGTGCTTTGTCTTTTCATTCCATTAGCAGTGTCTGTTGCACAGCAAAAGCTTTTAATTTTGATAAAGTCCAATTTGTTGATTCTTTTTCTCTTACGAGTTAAACTTTTGGTTTCGTATTTCAGAATTCACTGCCAAATCCAAGGTCCTGGAGATTTTCTCTTATGTTTTCTTCAAGATATTTTATGGTTTTATGTTTTATTTTAGATTTTTTTTCAGTAAGTTTGTATGTAGT... | TTTATTGTCAAGTTGTAAGCATTCTTTATATATTCTGAGTGCAAGTCCTTGACCTGATAGGTGATATGCAAATATTCTTTCCAAGTCTGTGCTTTGTCTTTTCATTCCATTAGCAGTGTCTGTTGCACAGCAAAAGCTTTTAATTTTGATAAAGTCCAATTTGTTGATTCTTTTTCTCTTACGAGTTAAACTTTTGGTTTCGTATTTCAGAATTCACTGCCAAATCCAAGGTCCTGGAGATTTTCTCTTATGTTTTCTTCAAGATATTTTATGGTTTTATGTTTTATTTTAGATTTTTTTTCAGTAAGTTTGTATGTAGT... | benign | 170,870 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 2662011, gene KCNQ1. What disease(s) is it linked to if pathogenic? | pathogenic; ['Long_QT_syndrome'] | GCAAATATTCTTTCCAAGTCTGTGCTTTGTCTTTTCATTCCATTAGCAGTGTCTGTTGCACAGCAAAAGCTTTTAATTTTGATAAAGTCCAATTTGTTGATTCTTTTTCTCTTACGAGTTAAACTTTTGGTTTCGTATTTCAGAATTCACTGCCAAATCCAAGGTCCTGGAGATTTTCTCTTATGTTTTCTTCAAGATATTTTATGGTTTTATGTTTTATTTTAGATTTTTTTTCAGTAAGTTTGTATGTAGTACCCTTTAAATTTTCATTTTCTAATTGTTGATCATCTGTCCTATCAGGCATAGATACTAAATGCATT... | GCAAATATTCTTTCCAAGTCTGTGCTTTGTCTTTTCATTCCATTAGCAGTGTCTGTTGCACAGCAAAAGCTTTTAATTTTGATAAAGTCCAATTTGTTGATTCTTTTTCTCTTACGAGTTAAACTTTTGGTTTCGTATTTCAGAATTCACTGCCAAATCCAAGGTCCTGGAGATTTTCTCTTATGTTTTCTTCAAGATATTTTATGGTTTTATGTTTTATTTTAGATTTTTTTTCAGTAAGTTTGTATGTAGTACCCTTTAAATTTTCATTTTCTAATTGTTGATCATCTGTCCTATCAGGCATAGATACTAAATGCATT... | pathogenic | 170,877 |
Is chromosome 11, position 2662050, gene KCNQ1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Atrial_fibrillation,_familial,_3', 'Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Jervell_and_Lange-Nielsen_syndrome_1', 'KCNQ1-related_epilepsy', 'Long_QT_syndrome', 'Long_QT_syndrome_1', 'Short_QT_syndrome_type_2'] | CCATTAGCAGTGTCTGTTGCACAGCAAAAGCTTTTAATTTTGATAAAGTCCAATTTGTTGATTCTTTTTCTCTTACGAGTTAAACTTTTGGTTTCGTATTTCAGAATTCACTGCCAAATCCAAGGTCCTGGAGATTTTCTCTTATGTTTTCTTCAAGATATTTTATGGTTTTATGTTTTATTTTAGATTTTTTTTCAGTAAGTTTGTATGTAGTACCCTTTAAATTTTCATTTTCTAATTGTTGATCATCTGTCCTATCAGGCATAGATACTAAATGCATTAAAACTTTTACACACATACATATGTATACATACAACACA... | CCATTAGCAGTGTCTGTTGCACAGCAAAAGCTTTTAATTTTGATAAAGTCCAATTTGTTGATTCTTTTTCTCTTACGAGTTAAACTTTTGGTTTCGTATTTCAGAATTCACTGCCAAATCCAAGGTCCTGGAGATTTTCTCTTATGTTTTCTTCAAGATATTTTATGGTTTTATGTTTTATTTTAGATTTTTTTTCAGTAAGTTTGTATGTAGTACCCTTTAAATTTTCATTTTCTAATTGTTGATCATCTGTCCTATCAGGCATAGATACTAAATGCATTAAAACTTTTACACACATACATATGTATACATACAACACA... | pathogenic | 170,884 |
Classify the chromosome 11 variant at position 2768841 affecting gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Long_QT_syndrome'] | ATTGATATGACATTACCTATTTCTTAGTCCTTATTTCTGTATCAGTTACCTATTGTTGCGTAGCAAACTAGACCTAAATTTAGTGGCTTCAAATATTTTCTTTGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGCGGACAGATCATGAGGTCAAGAGATCAACACCATCCTAGCCAACATGATCAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTGCTACTCAGGAGGCTGAGGCAGAAAAATCACTTGAACCCGGGAGGCGGAGGCTGCAGTG... | ATTGATATGACATTACCTATTTCTTAGTCCTTATTTCTGTATCAGTTACCTATTGTTGCGTAGCAAACTAGACCTAAATTTAGTGGCTTCAAATATTTTCTTTGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGCGGACAGATCATGAGGTCAAGAGATCAACACCATCCTAGCCAACATGATCAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTGCTACTCAGGAGGCTGAGGCAGAAAAATCACTTGAACCCGGGAGGCGGAGGCTGCAGTG... | pathogenic | 170,898 |
Does the chromosome 11 mutation at position 2776027 within gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AGCATCCCATCTTATAGAAGACAGAGACAGGGTTCAGCATCCCATCTTACAGAAAAGAGAATTAAGACTCAACATCCCATTTCATAGAAGAGAACTCAGTATCTCCATCTTATAGGAAGGAGAAACAGGGCTCAGCATCCCCTTTTACGGAAGAGAGAGACAGGGCTCAGCATTTTATCTTACAGAAGAGAGAAGAAGGACTTAGCATTCCCATATTACAGGAGAAACTGAGACCTGAGGATGTTATTACTAGCCTGTACATAAGTACGGTTTTTACGGGCCAGAGGGTCTGCCTAGAGTCCAACCCCATGCCTGCCTCT... | AGCATCCCATCTTATAGAAGACAGAGACAGGGTTCAGCATCCCATCTTACAGAAAAGAGAATTAAGACTCAACATCCCATTTCATAGAAGAGAACTCAGTATCTCCATCTTATAGGAAGGAGAAACAGGGCTCAGCATCCCCTTTTACGGAAGAGAGAGACAGGGCTCAGCATTTTATCTTACAGAAGAGAGAAGAAGGACTTAGCATTCCCATATTACAGGAGAAACTGAGACCTGAGGATGTTATTACTAGCCTGTACATAAGTACGGTTTTTACGGGCCAGAGGGTCTGCCTAGAGTCCAACCCCATGCCTGCCTCT... | pathogenic | 170,925 |
A genetic alteration at chromosome 11, position 2776984, in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Congenital_long_QT_syndrome', 'Long_QT_syndrome'] | CCTCCCCACCAAGCCGCTTGGCTCGTCTCTTGGGCCTTGCAAATTCCCCAGCAAAAGGCAGGAAAGCCACTAGCTCAGTGCTAAGGTGGCTATTTGAGCACTAATGATGACTACCCTGGGCCTCACCCGGTCACCCAGTGGCCTCTCGGGATAGAGGCAGTCTGTTGTCCTATGTGCTGGCTTGCCTGCAGGGCCAAGGCCTTCCTAGGCCATCAAACCCCTGCTCAGCCTGGCTGCTCCACCTGAGTGAGGCCCTTGGGAGCAAGGCCACAAATGTGGCTTGGGGTTTCCTGATATCATGAGATGCTTTGTTTTCTCTG... | CCTCCCCACCAAGCCGCTTGGCTCGTCTCTTGGGCCTTGCAAATTCCCCAGCAAAAGGCAGGAAAGCCACTAGCTCAGTGCTAAGGTGGCTATTTGAGCACTAATGATGACTACCCTGGGCCTCACCCGGTCACCCAGTGGCCTCTCGGGATAGAGGCAGTCTGTTGTCCTATGTGCTGGCTTGCCTGCAGGGCCAAGGCCTTCCTAGGCCATCAAACCCCTGCTCAGCCTGGCTGCTCCACCTGAGTGAGGCCCTTGGGAGCAAGGCCACAAATGTGGCTTGGGGTTTCCTGATATCATGAGATGCTTTGTTTTCTCTG... | pathogenic | 170,938 |
Is the variant located on chromosome 11 at position 2777007, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_1'] | CGTCTCTTGGGCCTTGCAAATTCCCCAGCAAAAGGCAGGAAAGCCACTAGCTCAGTGCTAAGGTGGCTATTTGAGCACTAATGATGACTACCCTGGGCCTCACCCGGTCACCCAGTGGCCTCTCGGGATAGAGGCAGTCTGTTGTCCTATGTGCTGGCTTGCCTGCAGGGCCAAGGCCTTCCTAGGCCATCAAACCCCTGCTCAGCCTGGCTGCTCCACCTGAGTGAGGCCCTTGGGAGCAAGGCCACAAATGTGGCTTGGGGTTTCCTGATATCATGAGATGCTTTGTTTTCTCTGTTGTGGTTTCAAGATGTCACCTG... | CGTCTCTTGGGCCTTGCAAATTCCCCAGCAAAAGGCAGGAAAGCCACTAGCTCAGTGCTAAGGTGGCTATTTGAGCACTAATGATGACTACCCTGGGCCTCACCCGGTCACCCAGTGGCCTCTCGGGATAGAGGCAGTCTGTTGTCCTATGTGCTGGCTTGCCTGCAGGGCCAAGGCCTTCCTAGGCCATCAAACCCCTGCTCAGCCTGGCTGCTCCACCTGAGTGAGGCCCTTGGGAGCAAGGCCACAAATGTGGCTTGGGGTTTCCTGATATCATGAGATGCTTTGTTTTCTCTGTTGTGGTTTCAAGATGTCACCTG... | pathogenic | 170,948 |
Gene mutation in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) at chromosome 11, position 2777020—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | TTGCAAATTCCCCAGCAAAAGGCAGGAAAGCCACTAGCTCAGTGCTAAGGTGGCTATTTGAGCACTAATGATGACTACCCTGGGCCTCACCCGGTCACCCAGTGGCCTCTCGGGATAGAGGCAGTCTGTTGTCCTATGTGCTGGCTTGCCTGCAGGGCCAAGGCCTTCCTAGGCCATCAAACCCCTGCTCAGCCTGGCTGCTCCACCTGAGTGAGGCCCTTGGGAGCAAGGCCACAAATGTGGCTTGGGGTTTCCTGATATCATGAGATGCTTTGTTTTCTCTGTTGTGGTTTCAAGATGTCACCTGAGTCCCACTTATA... | TTGCAAATTCCCCAGCAAAAGGCAGGAAAGCCACTAGCTCAGTGCTAAGGTGGCTATTTGAGCACTAATGATGACTACCCTGGGCCTCACCCGGTCACCCAGTGGCCTCTCGGGATAGAGGCAGTCTGTTGTCCTATGTGCTGGCTTGCCTGCAGGGCCAAGGCCTTCCTAGGCCATCAAACCCCTGCTCAGCCTGGCTGCTCCACCTGAGTGAGGCCCTTGGGAGCAAGGCCACAAATGTGGCTTGGGGTTTCCTGATATCATGAGATGCTTTGTTTTCTCTGTTGTGGTTTCAAGATGTCACCTGAGTCCCACTTATA... | pathogenic | 170,953 |
A genetic variant on chromosome 11, position 2778034, affects the gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome'] | GGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGGATCTGAGATGATGGGGGAATTGGGG... | GGACGTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAGAGGAGGTGGGCACGGCCAAACGGCAGCGGGGAGGGTGCCCAGGTCCTGCCCAGCCCGGCCCCAGCTGCATGATCAGCGGTGCCGGAGGAGGGAGGGGCTGAGACCCTGAGTTCTTGCCTCTCAACCACCCCCTTCTCCTCACCACCCCCAGCCCTGCAGAGGGAGGGCAGCTGGCCACGGCCACGGTTCACAGCCAGCCCACCAGGCAGCTCTACCTTGTTCCCCGCCCGGATCTGAGATGATGGGGGAATTGGGG... | pathogenic | 170,979 |
Evaluate the clinical significance of the mutation at chromosome 11, position 2847842 in gene KCNQ1: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Long_QT_syndrome'] | TGGAGGCTGCCCACCTAGCCCTCTAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCG... | TGGAGGCTGCCCACCTAGCCCTCTAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCG... | pathogenic | 170,996 |
The chromosome 11, position 2847858 genetic variant in gene KCNQ1: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Congenital_long_QT_syndrome', 'Long_QT_syndrome', 'Long_QT_syndrome_1'] | AGCCCTCTAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCGGCTGGATCAGCAGTGG... | AGCCCTCTAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCGGCTGGATCAGCAGTGG... | pathogenic | 171,001 |
Evaluate if the mutation on chromosome 11 at position 2847858 in KCNQ1 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome', 'Long_QT_syndrome_1'] | AGCCCTCTAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCGGCTGGATCAGCAGTGG... | AGCCCTCTAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCGGCTGGATCAGCAGTGG... | pathogenic | 171,002 |
Gene mutation in KCNQ1 at chromosome 11, position 2847862—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Atrial_fibrillation,_familial,_3', 'Beckwith-Wiedemann_syndrome', 'Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Jervell_and_Lange-Nielsen_syndrome_1', 'KCNQ1-related_disorder', 'Long_QT_syndrome', 'Long_QT_syndrome_1', 'Short_QT_syndrome_type_2'] | CTCTAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCGGCTGGATCAGCAGTGGGGCC... | CTCTAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCGGCTGGATCAGCAGTGGGGCC... | pathogenic | 171,004 |
The genetic variant at chromosome 11, position 2847865, affecting gene KCNQ1: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Long_QT_syndrome'] | TAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCGGCTGGATCAGCAGTGGGGCCGGG... | TAGACAGACGCTCGGCCCCACTCAGGCAGGCGCCCCCCTCTCATCTCAGCCTCTCACAGCACCCTGTTGGCCGCCTCTTCCTTAGCCTGCTCAGCCTCCGTGGTAGGTGCTGTGGGTGACGACCACAGCACCCAGCCTTTGAAGCTGGCCCGGGTCCACCCAGACCCTAGCAAACTGGTTGCTCCCTCTCTGGCCATCCCGGGGCTTGTGCCCACGTCACCCAGCAGCATCTTCCCTGGGGTTGTCTCACCCGCACAGAACCCAGCCCTGGCCCACACCTCACCCCAAGCCTATCCGGCTGGATCAGCAGTGGGGCCGGG... | pathogenic | 171,005 |
Is chromosome 11, position 2848375, gene KCNQ1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CTTATCGCGTGCTGATCTGTTTGCCCCTCCCCCACCACTTCTAGGTCTTTCCAGGCCTCCAGGTACCCACGGTGGGGGAGGGTCTACTTCATTCTCCACAGAGCACGCTGAGGGGCTCTCCTGCAAGAACACCGCAGGCTGAAGGACCAGCCCTGTCTCCTGTGGCCACCAACAGAGCTGTGCGCCCTCCCCGAACCCTCACTCATGCTAGGGCCCCCAGGTCCAACCTCCTAGGGAGAGGGGTCCCCAACCTGGACTCCCTCACCTGCCCTAGTCTGCCCCTGGGGTTGGCCCTGCTCCACCCAGCACCTGCTCTGAGG... | CTTATCGCGTGCTGATCTGTTTGCCCCTCCCCCACCACTTCTAGGTCTTTCCAGGCCTCCAGGTACCCACGGTGGGGGAGGGTCTACTTCATTCTCCACAGAGCACGCTGAGGGGCTCTCCTGCAAGAACACCGCAGGCTGAAGGACCAGCCCTGTCTCCTGTGGCCACCAACAGAGCTGTGCGCCCTCCCCGAACCCTCACTCATGCTAGGGCCCCCAGGTCCAACCTCCTAGGGAGAGGGGTCCCCAACCTGGACTCCCTCACCTGCCCTAGTCTGCCCCTGGGGTTGGCCCTGCTCCACCCAGCACCTGCTCTGAGG... | benign | 171,028 |
A genetic alteration at chromosome 11, position 2883974, in gene CDKN1C (cyclin dependent kinase inhibitor 1C)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CTGCCACCCTCCTTTATCTCAGAAGGGAAAAGGCTTTGTCCTCCTCACACAGGTGAATGTGGAGGTTTCTCCCCTGTGGGAGAGGTTGGAAGGCCGAAGCCAGGTCTACATGGGTCTGGTCCCTCATTACCGTCAGCTGAGGGTCCCTGTTGCTGAGCCGAAGCAGCGAGACCTGCCACTCTCAGGTCCCGGGGGCATTTCCCGGAGTCTGGCCCCAGCTGGGCCTCGAGGCCAGGCCCATCACCCTCCCCGCCCAGCCCTTCCAGGCAGCTGGGGGGAGCTCAGTTAATTACATGTCTAAATACATCTCGACCATCTCA... | CTGCCACCCTCCTTTATCTCAGAAGGGAAAAGGCTTTGTCCTCCTCACACAGGTGAATGTGGAGGTTTCTCCCCTGTGGGAGAGGTTGGAAGGCCGAAGCCAGGTCTACATGGGTCTGGTCCCTCATTACCGTCAGCTGAGGGTCCCTGTTGCTGAGCCGAAGCAGCGAGACCTGCCACTCTCAGGTCCCGGGGGCATTTCCCGGAGTCTGGCCCCAGCTGGGCCTCGAGGCCAGGCCCATCACCCTCCCCGCCCAGCCCTTCCAGGCAGCTGGGGGGAGCTCAGTTAATTACATGTCTAAATACATCTCGACCATCTCA... | benign | 171,038 |
Chromosome 11, position 2884840, gene CDKN1C (cyclin dependent kinase inhibitor 1C): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GGCTGTGTCTTGGTGGAGCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGAC... | GGCTGTGTCTTGGTGGAGCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGAC... | benign | 171,054 |
Variant at chromosome position 2884840, chromosome 11, gene CDKN1C (cyclin dependent kinase inhibitor 1C): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GGCTGTGTCTTGGTGGAGCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGAC... | GGCTGTGTCTTGGTGGAGCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGAC... | benign | 171,055 |
Variant in CDKN1C (cyclin dependent kinase inhibitor 1C), chromosome 11, position 2884840—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GGCTGTGTCTTGGTGGAGCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGAC... | GGCTGTGTCTTGGTGGAGCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGAC... | benign | 171,056 |
Gene CDKN1C (cyclin dependent kinase inhibitor 1C) variant at chromosome position 2884857 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTG... | GCCCTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTG... | benign | 171,057 |
Chromosome 11, position 2884860, gene CDKN1C (cyclin dependent kinase inhibitor 1C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGC... | CTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGC... | benign | 171,058 |
A genetic alteration at chromosome 11, position 2884860, in gene CDKN1C (cyclin dependent kinase inhibitor 1C)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGC... | CTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGC... | benign | 171,059 |
The mutation in gene CDKN1C (cyclin dependent kinase inhibitor 1C) at chromosome 11, position 2884860—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGC... | CTGCTCCACACCCTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGC... | benign | 171,060 |
A mutation at chromosome position 2884872 on chromosome 11 in gene CDKN1C (cyclin dependent kinase inhibitor 1C): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTG... | CTCCACCTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTG... | benign | 171,062 |
For chromosome 11, position 2884878, gene CDKN1C (cyclin dependent kinase inhibitor 1C): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCC... | CTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCC... | benign | 171,063 |
Is the variant located on chromosome 11 at position 2884878, gene CDKN1C (cyclin dependent kinase inhibitor 1C), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCC... | CTCAGCGCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCC... | benign | 171,064 |
The mutation impacting CDKN1C (cyclin dependent kinase inhibitor 1C) on chromosome 11 at position 2884884: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCT... | GCATCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCT... | benign | 171,066 |
Clinically, how would you classify the variant at chromosome 11, position 2884887, gene CDKN1C (cyclin dependent kinase inhibitor 1C): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCA... | TCCTCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCA... | benign | 171,067 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 2884890, gene CDKN1C (cyclin dependent kinase inhibitor 1C): what disease(s) if pathogenic? | benign | TCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCT... | TCAAACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCT... | benign | 171,070 |
Gene CDKN1C (cyclin dependent kinase inhibitor 1C) variant at chromosome position 2884893 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTT... | AACTAGCAGGGGCTTGAGCCCATCAGCAGAGGGGTTGCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTT... | benign | 171,072 |
Gene mutation in CDKN1C (cyclin dependent kinase inhibitor 1C) at chromosome 11, position 2884929—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAA... | GCGGGTGGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAA... | benign | 171,076 |
For chromosome 11, position 2884935, gene CDKN1C (cyclin dependent kinase inhibitor 1C): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAA... | GGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAA... | benign | 171,078 |
Evaluate this variant at chromosome 11, position 2884935, gene CDKN1C (cyclin dependent kinase inhibitor 1C): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAA... | GGTTTCCTTGAAACAAGCCTGGGTCTGGGCAGCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAA... | benign | 171,079 |
Does the variant on chromosome 11 at location 2884966 affecting gene CDKN1C (cyclin dependent kinase inhibitor 1C) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTC... | GCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTC... | benign | 171,083 |
Does the chromosome 11 mutation at position 2884966 within gene CDKN1C (cyclin dependent kinase inhibitor 1C) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTC... | GCAAGTCAGGGGCTGTGCTCCCTGCCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTC... | benign | 171,084 |
A genetic variant on chromosome 11, position 2884990, affects the gene CDKN1C (cyclin dependent kinase inhibitor 1C). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAG... | CCTCCTGGGGCTACATGAAGTCCAGGCTTGTCTTTCTGCAGCCCCGCAGGTGAGAGGTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAG... | benign | 171,085 |
Regarding the variant at chromosome 11 and position 2885046, affecting gene CDKN1C (cyclin dependent kinase inhibitor 1C): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Beckwith-Wiedemann_syndrome', 'IMAGe_syndrome'] | GTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAA... | GTGATAAATGCAGGGTGCAGTGCAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAA... | pathogenic | 171,088 |
Clinical classification of chromosome 11, position 2885068, gene CDKN1C (cyclin dependent kinase inhibitor 1C): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Beckwith-Wiedemann_syndrome'] | CAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATA... | CAGGCCGGCCGCCCCTCCTGAGATAAGGGGACTGGAGCAGGTGGGTGTGGGCCAGGCCCAGCCAGGAGAGAGGCTTCCCCTTTTGGATGGACTGGGGATGCCCACTTTGGGCTGCTCTCTCCTGCGTTCCAGCTCTCCAGCTTTTGGGGGTGCAGGAGAAGGGAGCTGGAGGCAGGCACAAGCACAAACAGACTGGAGTTGCAGCATTTTTCGGCCTCTTTATTTAGAACCCGGCGGACGAGGGGCCGGGGCAGTGGTACAGACGGCTCAGGAACCATTTTAACAGACTTGTCTTCAAGTTTCAGATAAACACAGTCATA... | pathogenic | 171,089 |
Variant chromosome 11, position 5225483, gene HBB: benign or pathogenic? Disease(s)? | pathogenic; ['Beta-plus-thalassemia', 'beta_Thalassemia'] | GGCCAGGCCCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGTGGCCGAGGCAGGCGGATCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTAC... | GGCCAGGCCCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGTGGCCGAGGCAGGCGGATCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTAC... | pathogenic | 171,230 |
The mutation in gene HBB at chromosome 11, position 5225486—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['beta_Thalassemia'] | CAGGCCCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGTGGCCGAGGCAGGCGGATCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGT... | CAGGCCCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGTGGCCGAGGCAGGCGGATCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGTCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGT... | pathogenic | 171,232 |
For chromosome 11, position 5225645, gene HBB: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['beta_Thalassemia'] | CAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATA... | CAGGAGATTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATA... | pathogenic | 171,243 |
Regarding the variant found on chromosome 11 at position 5225663 in gene HBB: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['beta_Thalassemia', 'likely other unspecified diseases'] | CCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGT... | CCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCTTGCCATTGCACTCCAGCCTGGACAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGT... | pathogenic | 171,246 |
Evaluate if the mutation on chromosome 11 at position 5225718 in HBB is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Beta_zero_thalassemia', 'Dominant_beta-thalassemia', 'Erythrocytosis,_familial,_6', 'Hb_SS_disease', 'Heinz_body_anemia', 'Hereditary_persistence_of_fetal_hemoglobin', 'METHEMOGLOBINEMIA,_BETA_TYPE', 'Malaria,_susceptibility_to', 'beta_Thalassemia'] | CAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCAT... | CAACAAGAGCAAAACTCCATCTAAAAAAAAAAAAAAATCTACTCTCTTTGCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCAT... | pathogenic | 171,258 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 5225767, gene HBB: what disease(s) if pathogenic? | benign | GCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTT... | GCAAATTTTAAATATACTTACAGTACAATTAACTACAGTCACGATGCTGTACATTAGATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTT... | benign | 171,269 |
A mutation at chromosome position 5225824 on chromosome 11 in gene HBB: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | ATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGG... | ATATCTAGAATTTATTCATCCCACATAACTGAAATTTTATACCCTTTGAGTAATAGTTTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGG... | benign | 171,277 |
Is the chromosome 11, position 5225881 variant in HBB clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTC... | TTCCTGATTCTCCCACCCCCAACCCCTGGAAACCATACCTCTACTGTCTGTTTCCATGAGAGTGACTTTTTTATGTTTCACATATGAGCAAGGTTGTGTAGTATTTGTCTTTTTGTGTCAGGCTTATTTTTCTTAGTTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTC... | benign | 171,289 |
Located at chromosome 11 position 5226017, the variant affecting gene HBB—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGA... | TTTTACATCCTCCAGGTTCATCAATTCTGCCATAAATGGCAGGATTTTCTTCTTTTTAATTTTTTTATTTTCCTATTTTTAATTTTTTGTTTGTTATTGAATCATCTGTGTTTCTTATATATTTTGGATATTAACCAAAATATTTAAGAAATATTTGGTTTGCAAATATGCCATTTCATGGTTCACCTTTCATTTGTTCATTGTTTTGTTTTTTGTGTGGAAATTTTTTAGTTTGATGTAGCCTCACTTCTTTATTTTTCCTTTTGTTGCCTTTGCTTCTCATATCAAATTCAAAAAACGGCTGCAACGTGAATATTAGA... | benign | 171,300 |
Chromosome 11, position 5226493, gene HBB: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | ATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCC... | ATATACCCTTCTATCATCACTTATTACTGATTATATGCCTTGATTTCAGAATCTTGCCAACTAGATTCAGAATTTGACTGGGAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCC... | benign | 171,301 |
Considering the genetic mutation at chromosome 11, position 5226574, impacting HBB: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['beta_Thalassemia'] | GAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCAT... | GAGAGAGGACAAGGACCACTTGAGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCAT... | pathogenic | 171,309 |
Variant chromosome 11, position 5226596, gene HBB: benign or pathogenic? Disease(s)? | pathogenic; ['Hemoglobinopathy', 'beta_Thalassemia'] | AGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAG... | AGACTCATATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAG... | pathogenic | 171,314 |
A genetic variant at chromosome 11, position 5226604, affecting gene HBB—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['beta_Thalassemia'] | ATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGT... | ATTTTATTTCCAGAATCTAGCATCTACCTACCTAGGTATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGT... | pathogenic | 171,317 |
Is the genetic mutation found on chromosome 11 at position 5226640, within the gene HBB, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Beta-thalassemia_HBB/LCRB', 'beta_Thalassemia'] | TATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGA... | TATTGAATAAGAAAAATGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGA... | pathogenic | 171,322 |
Clinical significance of chromosome 11, position 5226656, gene HBB: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Beta-plus-thalassemia', 'beta_Thalassemia', 'likely other unspecified diseases'] | TGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGA... | TGAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGA... | pathogenic | 171,325 |
Evaluate this variant at chromosome 11, position 5226657, gene HBB: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Beta-thalassemia_HBB/LCRB', 'beta_Thalassemia'] | GAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAG... | GAAGTTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAG... | pathogenic | 171,326 |
Considering the variant on chromosome 11, location 5226661, involving gene HBB, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Beta_zero_thalassemia', 'beta_Thalassemia'] | TTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGG... | TTAAGGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGG... | pathogenic | 171,327 |
The chromosome 11, position 5226665 genetic variant in gene HBB: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['beta_Thalassemia'] | GGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAG... | GGTGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAG... | pathogenic | 171,328 |
Regarding the variant found on chromosome 11 at position 5226667 in gene HBB: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic | TGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGC... | TGGTTGATGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGC... | pathogenic | 171,329 |
Considering the genetic mutation at chromosome 11, position 5226674, impacting HBB: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Beta_zero_thalassemia', 'Dominant_beta-thalassemia', 'Erythrocytosis,_familial,_6', 'Hb_SS_disease', 'Heinz_body_anemia', 'Hereditary_persistence_of_fetal_hemoglobin', 'Inborn_genetic_diseases', 'METHEMOGLOBINEMIA,_BETA_TYPE', 'Malaria,_susceptibility_to', 'beta_Thalassemia'] | TGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAG... | TGGTAACACTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAG... | pathogenic | 171,330 |
Evaluate if the mutation on chromosome 11 at position 5226682 in HBB is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['beta_Thalassemia'] | CTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTC... | CTATGCTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTC... | pathogenic | 171,331 |
A mutation at chromosome position 5226687 on chromosome 11 in gene HBB: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Dominant_beta-thalassemia', 'Erythrocytosis,_familial,_6', 'Hb_SS_disease', 'Heinz_body_anemia', 'Hereditary_persistence_of_fetal_hemoglobin', 'METHEMOGLOBINEMIA,_BETA_TYPE', 'Malaria,_susceptibility_to', 'alpha_Thalassemia', 'beta_Thalassemia'] | CTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGG... | CTAATAACTGCAGAGCCAGAAGCACCATAAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGG... | pathogenic | 171,335 |
Is chromosome 11, position 5226715, gene HBB variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hemoglobinopathy', 'beta_Thalassemia'] | AAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCC... | AAGGGACATGATAAGGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCC... | pathogenic | 171,340 |
Chromosome 11, position 5226729, gene HBB: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic | GGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGAC... | GGGAGCCAGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGAC... | pathogenic | 171,344 |
A genetic alteration at chromosome 11, position 5226736, in gene HBB—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hemoglobinopathy', 'beta_Thalassemia'] | AGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATA... | AGCAGACCTCTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATA... | pathogenic | 171,345 |
Evaluate if the mutation on chromosome 11 at position 5226745 in HBB is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['beta_Thalassemia'] | CTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAG... | CTGATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAG... | pathogenic | 171,346 |
Is the genetic change at chromosome 11, position 5226748, within gene HBB benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['beta_Thalassemia'] | ATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGA... | ATCTCTTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGA... | pathogenic | 171,347 |
Gene HBB variant at chromosome position 5226753 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Dominant_beta-thalassemia', 'Hemoglobinopathy', 'beta_Thalassemia'] | TTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACT... | TTCCTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACT... | pathogenic | 171,349 |
Clinically, how would you classify the variant at chromosome 11, position 5226756, gene HBB: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Beta_zero_thalassemia', 'Dominant_beta-thalassemia', 'Erythrocytosis,_familial,_6', 'Hb_SS_disease', 'Heinz_body_anemia', 'Hereditary_persistence_of_fetal_hemoglobin', 'METHEMOGLOBINEMIA,_BETA_TYPE', 'Malaria,_susceptibility_to', 'beta_Thalassemia'] | CTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAG... | CTGAATGCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAG... | pathogenic | 171,350 |
Clinical significance of chromosome 11, position 5226762, gene HBB: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Beta-thalassemia_HBB/LCRB', 'Beta_zero_thalassemia', 'Dominant_beta-thalassemia', 'Erythrocytosis,_familial,_6', 'Fetal_hemoglobin_quantitative_trait_locus_1', 'HBB-related_disorder', 'Hb_SS_disease', 'Heinz_body_anemia', 'Hereditary_persistence_of_fetal_hemoglobin', 'Inborn_genetic_diseases', 'METHEMOGLO... | GCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAG... | GCTAATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAG... | pathogenic | 171,352 |
The chromosome 11, position 5226765 genetic variant in gene HBB: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['beta_Thalassemia'] | AATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGG... | AATCTTAAACATCCTGAGGAAGAATGGGACTTCCATTTGGGGTGGGCCTATGACAGGGTAATAAGACAGTAGTGAATATCAAGCTACAAAAAGCCGCCTTTCAAATTCTTCTCAGTCCTAACTTTTCATACTAAGCCCAGTCCTTCCAAAGCAGACTGTGAAAGAGTGATAGTTCCGGGAGACTAGCACTGCAGATTCCGGGTCACTGTGAGTGGGGGAGGCAGGGAAGAAGGGCTCACAGGACAGTCAAACCATGACCCCTGTTTTTCCTTCTTCAAGTAGACCTCTATAAGACAACAGAGACAACTAAGGCTGAGTGG... | pathogenic | 171,355 |
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