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 |
|---|---|---|---|---|---|
Regarding the variant found on chromosome 22 at position 20993715 in gene LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | CCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCC... | CCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCC... | pathogenic | 323,123 |
Chromosome 22, position 20993940, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['LZTR1-related_schwannomatosis', 'Noonan_syndrome_10', 'Noonan_syndrome_2'] | CACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTC... | CACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTC... | pathogenic | 323,142 |
Considering the variant on chromosome 22, location 20993960, involving gene LZTR1 (leucine zipper like post translational regulator 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | TGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTG... | TGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTG... | pathogenic | 323,146 |
Classify the chromosome 22 variant at position 20993995 affecting gene LZTR1 (leucine zipper like post translational regulator 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis'] | CAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCAC... | CAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCAC... | pathogenic | 323,156 |
Evaluate if the mutation on chromosome 22 at position 20994122 in LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | AGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAG... | AGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAG... | pathogenic | 323,175 |
The mutation impacting LZTR1 (leucine zipper like post translational regulator 1) on chromosome 22 at position 20994184: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGG... | GCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGG... | pathogenic | 323,185 |
Assess the variant on chromosome 22, position 20994221, impacting LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | CTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGG... | CTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGG... | pathogenic | 323,190 |
The mutation in gene LZTR1 (leucine zipper like post translational regulator 1) at chromosome 22, position 20994253—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Noonan_syndrome_2'] | CCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGG... | CCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGG... | pathogenic | 323,194 |
Evaluate if the mutation on chromosome 22 at position 20994263 in LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Noonan_syndrome_2'] | TTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCA... | TTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCA... | pathogenic | 323,197 |
The mutation in gene LZTR1 (leucine zipper like post translational regulator 1) at chromosome 22, position 20994276—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTG... | AGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTG... | benign | 323,203 |
Benign or pathogenic: chromosome 22, position 20994556, gene LZTR1 (leucine zipper like post translational regulator 1) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis'] | GGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTG... | GGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTG... | pathogenic | 323,209 |
Does the variant impacting LZTR1 (leucine zipper like post translational regulator 1) on chromosome 22, position 20994621, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | CTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATG... | CTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATG... | pathogenic | 323,221 |
Evaluate if the mutation on chromosome 22 at position 20994674 in LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis', 'Noonan_syndrome_10', 'Noonan_syndrome_2', 'Schwannomatosis'] | TACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGG... | TACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGG... | pathogenic | 323,235 |
Is the variant located on chromosome 22 at position 20994681, gene LZTR1 (leucine zipper like post translational regulator 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | TCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCC... | TCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCC... | pathogenic | 323,238 |
Benign or pathogenic: chromosome 22, position 20994691, gene LZTR1 (leucine zipper like post translational regulator 1) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis', 'Schwannomatosis'] | GTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAA... | GTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAA... | pathogenic | 323,240 |
Variant on chromosome 22, at position 20994692, affecting LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'RASopathy'] | TCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAA... | TCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAA... | pathogenic | 323,241 |
Variant at chromosome 22, position 20994735, gene LZTR1 (leucine zipper like post translational regulator 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCA... | GCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCA... | benign | 323,251 |
Is the chromosome 22, position 20994868 variant in LZTR1 (leucine zipper like post translational regulator 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTG... | GGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTG... | pathogenic | 323,255 |
Evaluate if the mutation on chromosome 22 at position 20994884 in LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis'] | GACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAA... | GACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAA... | pathogenic | 323,257 |
Assess the variant on chromosome 22, position 20994889, impacting LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | CATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGG... | CATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGG... | pathogenic | 323,259 |
Regarding the variant found on chromosome 22 at position 20994925 in gene LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis'] | CCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGG... | CCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGG... | pathogenic | 323,265 |
Determine if the mutation at chromosome 22, position 20994945 in gene LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis'] | GGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCC... | GGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCC... | pathogenic | 323,268 |
For chromosome 22, position 20994946, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCG... | GTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCG... | pathogenic | 323,269 |
Clinical impact (benign or pathogenic) of the variant at chromosome 22, location 20994970, gene LZTR1 (leucine zipper like post translational regulator 1): what disease(s) if pathogenic? | pathogenic | CTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCC... | CTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCC... | pathogenic | 323,273 |
The genetic variant at chromosome 22, position 20994975, affecting gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['LZTR1-related_schwannomatosis'] | GAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCC... | GAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCC... | pathogenic | 323,275 |
Variant at chromosome 22, position 20994989, gene LZTR1 (leucine zipper like post translational regulator 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGC... | GACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGC... | pathogenic | 323,279 |
Does the variant on chromosome 22 at location 20995023 affecting gene LZTR1 (leucine zipper like post translational regulator 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | TTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGA... | TTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGA... | pathogenic | 323,282 |
A genetic variant on chromosome 22, position 20995801, affects the gene LZTR1 (leucine zipper like post translational regulator 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Noonan_syndrome_2'] | AGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACT... | AGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACT... | pathogenic | 323,309 |
Variant chromosome 22, position 20995811, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis', 'Noonan_syndrome_10', 'Noonan_syndrome_2'] | CTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCT... | CTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCT... | pathogenic | 323,311 |
Benign or pathogenic: chromosome 22, position 20995975, gene LZTR1 (leucine zipper like post translational regulator 1) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGA... | GAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGA... | pathogenic | 323,326 |
The chromosome 22, position 20995980 genetic variant in gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGA... | GTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGA... | pathogenic | 323,327 |
Clinical significance of chromosome 22, position 20996018, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['LZTR1-related_disorder'] | GCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGG... | GCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGG... | pathogenic | 323,333 |
Clinical impact (benign or pathogenic) of the variant at chromosome 22, location 20996066, gene LZTR1 (leucine zipper like post translational regulator 1): what disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | AGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGG... | AGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGG... | pathogenic | 323,343 |
Is chromosome 22, position 20996078, gene LZTR1 (leucine zipper like post translational regulator 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | TAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCC... | TAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCC... | pathogenic | 323,347 |
Regarding the variant found on chromosome 22 at position 20996702 in gene LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | AGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCG... | AGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCG... | pathogenic | 323,367 |
Variant in gene LZTR1 (leucine zipper like post translational regulator 1), located at chromosome 22 position 20996709: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Noonan_syndrome_1'] | CGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAG... | CGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAG... | pathogenic | 323,368 |
Determine if the mutation at chromosome 22, position 20996714 in gene LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis'] | ACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCA... | ACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCA... | pathogenic | 323,370 |
Classify the chromosome 22 variant at position 20996777 affecting gene LZTR1 (leucine zipper like post translational regulator 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | TGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTC... | TGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTC... | pathogenic | 323,390 |
Chromosome 22, position 20996778, gene LZTR1 (leucine zipper like post translational regulator 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCC... | GTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCC... | pathogenic | 323,391 |
Evaluate this variant at chromosome 22, position 20996906, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis', 'Noonan_syndrome_2'] | TGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGA... | TGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGA... | pathogenic | 323,405 |
Does the genetic variant at chromosome 22, position 20996964, impacting gene LZTR1 (leucine zipper like post translational regulator 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic | TGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTG... | TGATCATGATGAAGGAGTTCGAGCGCCTCTCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCCTTGGACCAGCCAGTGGACATTGGTAGGGAGCCCCGTTCCCCTTCCCTGGGGGCTGGGAGGGATGGTGTTCATCTGCGGTAGGAGATTGGGAGCCATGGAGAGCACCTGCCAGGCCCTCGGGGTGGGGGTGGGTGCCATGGGACCCCAGAGTGCTCTCCTGGGTACAGGGAGGAAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTG... | pathogenic | 323,415 |
Evaluate this variant at chromosome 22, position 20997225, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | AAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGG... | AAACAGATGAAGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGG... | benign | 323,418 |
Evaluate if the mutation on chromosome 22 at position 20997235 in LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | AGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAG... | AGGCAGAAGCCCCCGACCCATGGGGCTTGCCACAGTGGGCTGTGTCCTGGTGACCTGGGATTTCCTGAGCCAATTTCTGGGGGTGGACATGGGGCACCTCTTTCGGGCTAGGATGTCAGGTCTGATGGCCCAGGGTCACGGTGATCAGTCTCTGGACTTCTCTTTGCTTGTAATGTCACAGGCCCCTTCATTCCCCCAGCTCTCCCTGGGGCTTGTGCTGACCCCGGTTGCTGGCTCTTGGTGATGTCTGCAGGCACCAGAGGCCATGCAGTGGGCCTGGAGGGGGCTTGATCATGAGGTCAGCGAGGGGGTACAGCAAG... | pathogenic | 323,420 |
Is the genetic change at chromosome 22, position 23825219, within gene SMARCB1 (SWI/SNF related BAF chromatin remodeling complex subunit B1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TCTAGACTTTGGAATAAATGAATGTGTTAGTGACTGAATGGCAGGGGACAGGCAACTCCATCCATGAGCCCAGGGCAGGGAGGGCTTGCTGGGTGGGAGCCATGTGCCTATGGTCCTATGGGGTCCTGTTGGGTGGTTCCATGGGCTGTCTGCTGCTGCACGTTCTTTTTGGACCCAGCACCCACGTGGTTTGCTTGGCATTAGATTCCAGTTGGGAAGGGCCAGTGCCTCCGATTCCATTCATCATCAGGCGTGGGCGTATGTGGAGATAGCAAAGGACATGGGGGCCCGACTGCAGTCCCCATTGCCTGGCTGCATGC... | TCTAGACTTTGGAATAAATGAATGTGTTAGTGACTGAATGGCAGGGGACAGGCAACTCCATCCATGAGCCCAGGGCAGGGAGGGCTTGCTGGGTGGGAGCCATGTGCCTATGGTCCTATGGGGTCCTGTTGGGTGGTTCCATGGGCTGTCTGCTGCTGCACGTTCTTTTTGGACCCAGCACCCACGTGGTTTGCTTGGCATTAGATTCCAGTTGGGAAGGGCCAGTGCCTCCGATTCCATTCATCATCAGGCGTGGGCGTATGTGGAGATAGCAAAGGACATGGGGGCCCGACTGCAGTCCCCATTGCCTGGCTGCATGC... | benign | 323,699 |
Variant at chromosome 22, position 23833669, gene SMARCB1 (SWI/SNF related BAF chromatin remodeling complex subunit B1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Intellectual_disability,_autosomal_dominant_15', 'Rhabdoid_tumor_predisposition_syndrome_1', 'SMARCB1-related_schwannomatosis'] | CAAACCCACTGGAGTGGAATATTCCCAGCATCAAGGGGAGGTAAACAAAGGACCCTCTGGGACCCACTCGCCAGCTCTTGTTTAAGAGGAAAACATGTTTTGCTCCCCTCGTTGTGGGCTTGGTACCTTTCACGTCTGCCCTCCAAGGAAGGCTGCTGGGAGCCCTCACGGTGAGGAATGATGTTTGGGGTCTGAGGCTAGGGTGGTCCCTAGACTGCTAAACCACCCGGTGCTGGCCAGGGACCAGCTGTCAGGAGCTGCTGAGGATGGGTCAGCCCCAGAGGGTGGGGGTGCCGACATTGCCTCTGGCCCTGCCTCTG... | CAAACCCACTGGAGTGGAATATTCCCAGCATCAAGGGGAGGTAAACAAAGGACCCTCTGGGACCCACTCGCCAGCTCTTGTTTAAGAGGAAAACATGTTTTGCTCCCCTCGTTGTGGGCTTGGTACCTTTCACGTCTGCCCTCCAAGGAAGGCTGCTGGGAGCCCTCACGGTGAGGAATGATGTTTGGGGTCTGAGGCTAGGGTGGTCCCTAGACTGCTAAACCACCCGGTGCTGGCCAGGGACCAGCTGTCAGGAGCTGCTGAGGATGGGTCAGCCCCAGAGGGTGGGGGTGCCGACATTGCCTCTGGCCCTGCCTCTG... | pathogenic | 323,752 |
Variant in gene SMARCB1 (SWI/SNF related BAF chromatin remodeling complex subunit B1), located at chromosome 22 position 23834166: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Rhabdoid_tumor_predisposition_syndrome_1'] | ACGGGCTCACGGCTACTGGAGCTGGGTGTGTGCTCACTGGTGTGGATGTGCAGAGCCGGGACTCGCTCTGCAAGCAGGCTGGTCCCACAACCTTGAGCCACCCACTACAGGGAGGCTGTGAGAAGGTCCCTGGCCCCTAGGAAGCTCCCTCAGTGGAGATGTTTTGGCTGCTTTAATAACAGTCATCCTTCCAAAGCCCTTCACAGCAATAAATGTTTCCATATTCCAGATGAGGTTTGCAGGGACCTGTCCTCTCTATCAGTGTCCACCTGGCGCCTCCCCCGAGTCCGGCCTGCCCTTGCTTCTCCCAGAGCTCATGG... | ACGGGCTCACGGCTACTGGAGCTGGGTGTGTGCTCACTGGTGTGGATGTGCAGAGCCGGGACTCGCTCTGCAAGCAGGCTGGTCCCACAACCTTGAGCCACCCACTACAGGGAGGCTGTGAGAAGGTCCCTGGCCCCTAGGAAGCTCCCTCAGTGGAGATGTTTTGGCTGCTTTAATAACAGTCATCCTTCCAAAGCCCTTCACAGCAATAAATGTTTCCATATTCCAGATGAGGTTTGCAGGGACCTGTCCTCTCTATCAGTGTCCACCTGGCGCCTCCCCCGAGTCCGGCCTGCCCTTGCTTCTCCCAGAGCTCATGG... | pathogenic | 323,769 |
Does the genetic variant at chromosome 22, position 23834293, impacting gene SMARCB1 (SWI/SNF related BAF chromatin remodeling complex subunit B1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CCCTGGCCCCTAGGAAGCTCCCTCAGTGGAGATGTTTTGGCTGCTTTAATAACAGTCATCCTTCCAAAGCCCTTCACAGCAATAAATGTTTCCATATTCCAGATGAGGTTTGCAGGGACCTGTCCTCTCTATCAGTGTCCACCTGGCGCCTCCCCCGAGTCCGGCCTGCCCTTGCTTCTCCCAGAGCTCATGGTGTTTTTCAGGGCCGCAGGCTGGCAGGGTGTCCTTCTCCCAGGGGACTGAGCCTAGGGAGAGCCAAGTGGAGGTGCCCAAGTGGAGGAGAAAGGAAAGGACCACAGAGAGGGGAGGGGAAGTGGGAG... | CCCTGGCCCCTAGGAAGCTCCCTCAGTGGAGATGTTTTGGCTGCTTTAATAACAGTCATCCTTCCAAAGCCCTTCACAGCAATAAATGTTTCCATATTCCAGATGAGGTTTGCAGGGACCTGTCCTCTCTATCAGTGTCCACCTGGCGCCTCCCCCGAGTCCGGCCTGCCCTTGCTTCTCCCAGAGCTCATGGTGTTTTTCAGGGCCGCAGGCTGGCAGGGTGTCCTTCTCCCAGGGGACTGAGCCTAGGGAGAGCCAAGTGGAGGTGCCCAAGTGGAGGAGAAAGGAAAGGACCACAGAGAGGGGAGGGGAAGTGGGAG... | benign | 323,772 |
Variant in UPB1 (beta-ureidopropionase 1), chromosome 22, position 24500146—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Deficiency_of_beta-ureidopropionase'] | TGAGGGCCCACTTTCTGGTTTTTGATGGTGCCTTCTCACTGTGTTCTTACATGGTGCAGGAAGCAAGCATGCCCTCTTGGTCTTTTAAAAGGACTCTACCCTCATGACCTAATCACCTCTGAAAGAGCCCTATCACATTGGAGATTAGGATTTCAACATATGAATTTGGGGCAGACATAAGCATTCAGTCTGTCTCAGTGTTCCACTGCATCTCCTGTACCAGGCCTTTCGGTGGGCACAGCACATGGTCATTGACTGCGTCTACACAGGGTATGGCTTGAGGATTGGTTAGGTTCTCCAAGATGAAGCTGTGTAGGATG... | TGAGGGCCCACTTTCTGGTTTTTGATGGTGCCTTCTCACTGTGTTCTTACATGGTGCAGGAAGCAAGCATGCCCTCTTGGTCTTTTAAAAGGACTCTACCCTCATGACCTAATCACCTCTGAAAGAGCCCTATCACATTGGAGATTAGGATTTCAACATATGAATTTGGGGCAGACATAAGCATTCAGTCTGTCTCAGTGTTCCACTGCATCTCCTGTACCAGGCCTTTCGGTGGGCACAGCACATGGTCATTGACTGCGTCTACACAGGGTATGGCTTGAGGATTGGTTAGGTTCTCCAAGATGAAGCTGTGTAGGATG... | pathogenic | 323,865 |
A genetic variant at chromosome 22, position 25769298, affecting gene MYO18B (myosin XVIIIB)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic | CAGTAACAAGGCCTGGGAAGGGAGCAGGCAGTGGAAACCCCTTGGGTGTTATGCAGTCACAAATGTCTGGGTCAGGCAAGAGTGGGGGACCCCAGGGGCAGAAACCAGGGCCCTCAGCTGGTATGGGAAGTGTGATATGGGGATCAGGGCAGTGGAAGTAGCAGCAGCTCGGTTTATTCTTCTCTCTCTGATCTCCAAAGTGCATTTCTACATCTCATCCTATAAAAGATCTGGATGGTCAGGTGGTATCTGCCTGTACTGGGGAAACCCGAAGCCCAGAGAGAAGAGATGGTAGCCCAGATAGACATAGAAGGAAGCCT... | CAGTAACAAGGCCTGGGAAGGGAGCAGGCAGTGGAAACCCCTTGGGTGTTATGCAGTCACAAATGTCTGGGTCAGGCAAGAGTGGGGGACCCCAGGGGCAGAAACCAGGGCCCTCAGCTGGTATGGGAAGTGTGATATGGGGATCAGGGCAGTGGAAGTAGCAGCAGCTCGGTTTATTCTTCTCTCTCTGATCTCCAAAGTGCATTTCTACATCTCATCCTATAAAAGATCTGGATGGTCAGGTGGTATCTGCCTGTACTGGGGAAACCCGAAGCCCAGAGAGAAGAGATGGTAGCCCAGATAGACATAGAAGGAAGCCT... | pathogenic | 323,964 |
Is the genetic variant on chromosome 22, position 25950345, gene MYO18B (myosin XVIIIB), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CCATCCATGCAGCCATCCATTCATTTATCCATTCATCCATCCTACCACCGCTTACCCATTTATTCACCTATCCACCTATCCAACCATCATTTTCTTTTCTTTTTCCTGTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCCTCTCTTTTCTCTTTCCTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTCTTTCTCTTTTTCTTCTTTCCCCCTCTTTCTTTCTTTCTTCTTATCTTTCTATCTGTAGCTAT... | CCATCCATGCAGCCATCCATTCATTTATCCATTCATCCATCCTACCACCGCTTACCCATTTATTCACCTATCCACCTATCCAACCATCATTTTCTTTTCTTTTTCCTGTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCCTCTCTTTTCTCTTTCCTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTCTTTCTCTTTTTCTTCTTTCCCCCTCTTTCTTTCTTTCTTCTTATCTTTCTATCTGTAGCTAT... | benign | 324,073 |
Is chromosome 22, position 26453305, gene HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hermansky-Pudlak_syndrome_4'] | CTGTGGGATTAACCGTGTCCTGAGTGACCCCCTGAAACCTCTGAAATATTAAAAAACGGGAAAACAGCGGGTTAAGTGTTTCTTCTCTGCAGCCTCTGGGCCACAGTTACCAAGCTTTAGAGATGACGGCTGCAGCTGCCAGTGCCCTGGGGCTCTGAGCAGAACCTCCACTGCAGAAACTAAGCAGGATCAAAGGAGGAAAGAAAGGGGCACACCTGCAAAGTGAAGTTTCAGGACTTTACTTTTTCTGAGTTAATCCAGGTGCATGAGACTTTTCCATATACACGGATAGGCTTTGTACGGTTCCATTTTGGGTCAGT... | CTGTGGGATTAACCGTGTCCTGAGTGACCCCCTGAAACCTCTGAAATATTAAAAAACGGGAAAACAGCGGGTTAAGTGTTTCTTCTCTGCAGCCTCTGGGCCACAGTTACCAAGCTTTAGAGATGACGGCTGCAGCTGCCAGTGCCCTGGGGCTCTGAGCAGAACCTCCACTGCAGAAACTAAGCAGGATCAAAGGAGGAAAGAAAGGGGCACACCTGCAAAGTGAAGTTTCAGGACTTTACTTTTTCTGAGTTAATCCAGGTGCATGAGACTTTTCCATATACACGGATAGGCTTTGTACGGTTCCATTTTGGGTCAGT... | pathogenic | 324,124 |
Is the variant located on chromosome 22 at position 26458522, gene HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hermansky-Pudlak_syndrome_4'] | CATGGTGAAACCCTATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAAACCAGGAGACAGAGGTTGCAATGAGCCGAGACTGAGCCCCTGCACTCCAGCCTGGCGAGAGTGAGACTCCATCTCAAAATAAATAAATAAAAAATAATGCCCTTGACCAGATGGTTCCAAGGACTACGTGGACTAATATACACATTGCCAGCACTGCCCTTGACCTGCTAACTTGCTTTATTTTCTGTTACCAGTTGTCAACCAAATTCTCAG... | CATGGTGAAACCCTATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAAACCAGGAGACAGAGGTTGCAATGAGCCGAGACTGAGCCCCTGCACTCCAGCCTGGCGAGAGTGAGACTCCATCTCAAAATAAATAAATAAAAAATAATGCCCTTGACCAGATGGTTCCAAGGACTACGTGGACTAATATACACATTGCCAGCACTGCCCTTGACCTGCTAACTTGCTTTATTTTCTGTTACCAGTTGTCAACCAAATTCTCAG... | pathogenic | 324,134 |
Is the genetic mutation found on chromosome 22 at position 26464528, within the gene HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hermansky-Pudlak_syndrome_4'] | TGGGAGTTACAATGCCTCCTTCCCAGAACTGTTCTAAGGCTTGGCTAAAACGAGAGATGCGAAGTATTTCACATATAGTTGGTGCAGAATACATCTCAAAGAGCAGCCTGGGCTATTTTTTCCTTTTTGTGGGGGAAGGTAAAAAGAGAGGTATTATATCCACTTTATTGCATTCAAACACTGGGCCCTTCAAAATGACACTTCCAAGGCTCGACACTGTGCAGAACAGACCATGAAAACCAAGGCATTGGCAGGGAGATGAGGCATTTAACACTGCAGCCACAACTCCCCGCACTGCTATAAGAAGGAGATGGATAGTC... | TGGGAGTTACAATGCCTCCTTCCCAGAACTGTTCTAAGGCTTGGCTAAAACGAGAGATGCGAAGTATTTCACATATAGTTGGTGCAGAATACATCTCAAAGAGCAGCCTGGGCTATTTTTTCCTTTTTGTGGGGGAAGGTAAAAAGAGAGGTATTATATCCACTTTATTGCATTCAAACACTGGGCCCTTCAAAATGACACTTCCAAGGCTCGACACTGTGCAGAACAGACCATGAAAACCAAGGCATTGGCAGGGAGATGAGGCATTTAACACTGCAGCCACAACTCCCCGCACTGCTATAAGAAGGAGATGGATAGTC... | pathogenic | 324,144 |
The mutation in gene HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2) at chromosome 22, position 26464569—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TGGCTAAAACGAGAGATGCGAAGTATTTCACATATAGTTGGTGCAGAATACATCTCAAAGAGCAGCCTGGGCTATTTTTTCCTTTTTGTGGGGGAAGGTAAAAAGAGAGGTATTATATCCACTTTATTGCATTCAAACACTGGGCCCTTCAAAATGACACTTCCAAGGCTCGACACTGTGCAGAACAGACCATGAAAACCAAGGCATTGGCAGGGAGATGAGGCATTTAACACTGCAGCCACAACTCCCCGCACTGCTATAAGAAGGAGATGGATAGTCACTCCTAGCTATGGTGAATGGGGATACAGGAAGCAAATGAG... | TGGCTAAAACGAGAGATGCGAAGTATTTCACATATAGTTGGTGCAGAATACATCTCAAAGAGCAGCCTGGGCTATTTTTTCCTTTTTGTGGGGGAAGGTAAAAAGAGAGGTATTATATCCACTTTATTGCATTCAAACACTGGGCCCTTCAAAATGACACTTCCAAGGCTCGACACTGTGCAGAACAGACCATGAAAACCAAGGCATTGGCAGGGAGATGAGGCATTTAACACTGCAGCCACAACTCCCCGCACTGCTATAAGAAGGAGATGGATAGTCACTCCTAGCTATGGTGAATGGGGATACAGGAAGCAAATGAG... | benign | 324,146 |
Is the genetic change at chromosome 22, position 26466245, within gene HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hermansky-Pudlak_syndrome_4'] | TGTCCTGGATCTAAGCGAGGCAATAACAAGGGCCTGCGGGTCCTTCTGGGGAGAGGGTCTGCTCTGGGAATGGGGGCTTGGCTGCTATGGCCAGGATGGTCTTCGAGCTGCTCTTGGGCTCCATGCTGGGTCAGCATCTCAGGAGCAGAGGGAGGGCGCAAGCTGCTGATGGCTGTGTCCTCAGGAGGCGTGGGTTCCAGGCTGCTGGAGGCGCTGAGAGATGCCTTGCAGTAAGGAGCCCTGCCATCTGGAACAGGCACATGTAGGAAGGCAAAATGACCTGAGGCCATTTCCACTTCCTGAGCCTCTGGAATGTGGAT... | TGTCCTGGATCTAAGCGAGGCAATAACAAGGGCCTGCGGGTCCTTCTGGGGAGAGGGTCTGCTCTGGGAATGGGGGCTTGGCTGCTATGGCCAGGATGGTCTTCGAGCTGCTCTTGGGCTCCATGCTGGGTCAGCATCTCAGGAGCAGAGGGAGGGCGCAAGCTGCTGATGGCTGTGTCCTCAGGAGGCGTGGGTTCCAGGCTGCTGGAGGCGCTGAGAGATGCCTTGCAGTAAGGAGCCCTGCCATCTGGAACAGGCACATGTAGGAAGGCAAAATGACCTGAGGCCATTTCCACTTCCTGAGCCTCTGGAATGTGGAT... | pathogenic | 324,157 |
Variant on chromosome 22, at position 26479349, affecting HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hermansky-Pudlak_syndrome_4'] | GAAGAACATGTGATTGAAACCTTATGTGCCTTGCAAAGCCTAAAATATTTACTTTCTGGCCCTTTACAAAGTTTGCCAACCCCTACCTGAGATGACTGAACCCTAAGAGAACACCCAGCAGGAACACATGCGATGACTGCACAGAACCGCATTTCTGTTGCTAGGATTATAGGCATATGCTTAGCAGAAGCATGAGCCTTTCACTCCTACTCAAATCCCCCATACGGAGTGGCCAGAGGGATGCAGATTAACCCCAACTATCCATGTCAGAGCACAGTCACAGGAGGGAATGTACAGAATCTCCTAATCAACCTTAGCCT... | GAAGAACATGTGATTGAAACCTTATGTGCCTTGCAAAGCCTAAAATATTTACTTTCTGGCCCTTTACAAAGTTTGCCAACCCCTACCTGAGATGACTGAACCCTAAGAGAACACCCAGCAGGAACACATGCGATGACTGCACAGAACCGCATTTCTGTTGCTAGGATTATAGGCATATGCTTAGCAGAAGCATGAGCCTTTCACTCCTACTCAAATCCCCCATACGGAGTGGCCAGAGGGATGCAGATTAACCCCAACTATCCATGTCAGAGCACAGTCACAGGAGGGAATGTACAGAATCTCCTAATCAACCTTAGCCT... | pathogenic | 324,175 |
Is the genetic variant on chromosome 22, position 26616148, gene CRYBA4, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cataract_17', 'Cataract_17_multiple_types'] | ATCAATGACAATGGTGCCCAAAACTTCATTAGCAATTTTAATTTTGCCCCGGTCCTGTGATCCTGTGATCTCTCCCTGCCTCCACTTGCCCTGTGATATTCTATTACCTTGTAAAGTACTTGATGTCTGTGACCCACACCTATTCTCACACTCCCTCCCCTTTTGAAACTCCCTAATAAAAACTTGCTGGTTTTTGCAGCTTGTGGGGCATCACGGAACCTACTGACATGTGATGTCTCCCCCGGACGCCCAGCTTTACAATTTTTCTCTTTTGTACTCTGTCCCTTTATTTCTCAAGCTGGCCGACGCTTAGGAAAAAT... | ATCAATGACAATGGTGCCCAAAACTTCATTAGCAATTTTAATTTTGCCCCGGTCCTGTGATCCTGTGATCTCTCCCTGCCTCCACTTGCCCTGTGATATTCTATTACCTTGTAAAGTACTTGATGTCTGTGACCCACACCTATTCTCACACTCCCTCCCCTTTTGAAACTCCCTAATAAAAACTTGCTGGTTTTTGCAGCTTGTGGGGCATCACGGAACCTACTGACATGTGATGTCTCCCCCGGACGCCCAGCTTTACAATTTTTCTCTTTTGTACTCTGTCCCTTTATTTCTCAAGCTGGCCGACGCTTAGGAAAAAT... | pathogenic | 324,194 |
Gene MN1 (MN1 proto-oncogene, transcriptional regulator) variant at chromosome 22, position 27798945—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | AGGTCAATGGTGCTCATGGCGCTCTTGACCGCCTCGGAGCAGCAGCTGCCCAGCTCGCTGTCGCCATTCTGCGCCCCTGAGGCCCCGACGGCGCACTCACCCTTCTTGCCACCCTTCAGCCCCAGAGGCTGGTCCTCGGAGATGCTGAACTGCTGCCTCTGTAGCTGGATCTGCGCCTGAAGGATCTCCAGGGGGTGGATCTCGTCGGGTGGCGGGGCGCCGCTGCTGCTCGTCGGGGTGCGGACCTGCTCCAGGCCCGGAGTGCCCGGATGGCCCGGGCCCCCACCGCCGCCGTAGCTGTCAGGGGTCGAGGTAGAGTT... | AGGTCAATGGTGCTCATGGCGCTCTTGACCGCCTCGGAGCAGCAGCTGCCCAGCTCGCTGTCGCCATTCTGCGCCCCTGAGGCCCCGACGGCGCACTCACCCTTCTTGCCACCCTTCAGCCCCAGAGGCTGGTCCTCGGAGATGCTGAACTGCTGCCTCTGTAGCTGGATCTGCGCCTGAAGGATCTCCAGGGGGTGGATCTCGTCGGGTGGCGGGGCGCCGCTGCTGCTCGTCGGGGTGCGGACCTGCTCCAGGCCCGGAGTGCCCGGATGGCCCGGGCCCCCACCGCCGCCGTAGCTGTCAGGGGTCGAGGTAGAGTT... | benign | 324,226 |
Regarding the variant found on chromosome 22 at position 27798945 in gene MN1 (MN1 proto-oncogene, transcriptional regulator): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | AGGTCAATGGTGCTCATGGCGCTCTTGACCGCCTCGGAGCAGCAGCTGCCCAGCTCGCTGTCGCCATTCTGCGCCCCTGAGGCCCCGACGGCGCACTCACCCTTCTTGCCACCCTTCAGCCCCAGAGGCTGGTCCTCGGAGATGCTGAACTGCTGCCTCTGTAGCTGGATCTGCGCCTGAAGGATCTCCAGGGGGTGGATCTCGTCGGGTGGCGGGGCGCCGCTGCTGCTCGTCGGGGTGCGGACCTGCTCCAGGCCCGGAGTGCCCGGATGGCCCGGGCCCCCACCGCCGCCGTAGCTGTCAGGGGTCGAGGTAGAGTT... | AGGTCAATGGTGCTCATGGCGCTCTTGACCGCCTCGGAGCAGCAGCTGCCCAGCTCGCTGTCGCCATTCTGCGCCCCTGAGGCCCCGACGGCGCACTCACCCTTCTTGCCACCCTTCAGCCCCAGAGGCTGGTCCTCGGAGATGCTGAACTGCTGCCTCTGTAGCTGGATCTGCGCCTGAAGGATCTCCAGGGGGTGGATCTCGTCGGGTGGCGGGGCGCCGCTGCTGCTCGTCGGGGTGCGGACCTGCTCCAGGCCCGGAGTGCCCGGATGGCCCGGGCCCCCACCGCCGCCGTAGCTGTCAGGGGTCGAGGTAGAGTT... | benign | 324,227 |
Does the variant impacting MN1 (MN1 proto-oncogene, transcriptional regulator) on chromosome 22, position 27799618, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CTGCGGAGCTTCCCCCGACGGCTGCGCCTGACGCTTGCTGCTGCCCTGGGCTCACCCCAGGTGCGCCCCCGCTGTCCGGAGCCGCCGAGTACTTGTCAAAGAAGGTGCCAGGGCTCACGTGACCACTGTCCCTTTTTCTGCGACCCCGTCCCCGGCCGCCGCCCCCGGAGACCGGCTTGCCGTCATTCCCCGACGTGGATTCCAGGGTGTAGTTGGGGGAGAGGCTGGTGCCGTCCCCCTGGGCTGGAGGGTTGGGCGGCCCCGAGGCTTTGGAGCCGCTGCTACTGGTCCCGGACGGGCCTCCGGGTCCTGGGGCCCCA... | CTGCGGAGCTTCCCCCGACGGCTGCGCCTGACGCTTGCTGCTGCCCTGGGCTCACCCCAGGTGCGCCCCCGCTGTCCGGAGCCGCCGAGTACTTGTCAAAGAAGGTGCCAGGGCTCACGTGACCACTGTCCCTTTTTCTGCGACCCCGTCCCCGGCCGCCGCCCCCGGAGACCGGCTTGCCGTCATTCCCCGACGTGGATTCCAGGGTGTAGTTGGGGGAGAGGCTGGTGCCGTCCCCCTGGGCTGGAGGGTTGGGCGGCCCCGAGGCTTTGGAGCCGCTGCTACTGGTCCCGGACGGGCCTCCGGGTCCTGGGGCCCCA... | benign | 324,231 |
A genetic variant on chromosome 22, position 28687970, affects the gene CHEK2 (checkpoint kinase 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGATTGCCTGAGGTCAGGGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCA... | GGATTGCCTGAGGTCAGGGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCA... | pathogenic | 324,267 |
Classify the chromosome 22 variant at position 28687981 affecting gene CHEK2 (checkpoint kinase 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGTCAGGGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACA... | GGTCAGGGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACA... | pathogenic | 324,271 |
The mutation in gene CHEK2 (checkpoint kinase 2) at chromosome 22, position 28687982—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTCAGGGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACAT... | GTCAGGGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACAT... | pathogenic | 324,272 |
Mutation at chromosome 22, position 28687982, within CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast'] | GTCAGGGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACAT... | GTCAGGGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACAT... | pathogenic | 324,273 |
Clinical significance of chromosome 22, position 28687987, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACATTAAAT... | GGGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACATTAAAT... | pathogenic | 324,276 |
Clinical significance of chromosome 22, position 28687999, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACATTAAATATTCAAATGAGC... | AGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGCGACAAGCATGAGACTTCATCTCAATTTAATAAAAAAAAGAAAAAAGAAAAAAAAAAAAAAGAAACAGAGAAAAGCTGGCTAACTCTCCACAGTGGGAAAAATGTCCCAGGAAACCACAGCCTCCACATTAAATATTCAAATGAGC... | benign | 324,283 |
Variant in gene CHEK2 (checkpoint kinase 2), located at chromosome 22 position 28689154: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | GACCTGTATCTTTATGAGGGCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAAT... | GACCTGTATCTTTATGAGGGCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAAT... | pathogenic | 324,295 |
The mutation in gene CHEK2 (checkpoint kinase 2) at chromosome 22, position 28689173—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACT... | GCGAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACT... | pathogenic | 324,301 |
Gene CHEK2 (checkpoint kinase 2) variant at chromosome 22, position 28689175—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGA... | GAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGA... | pathogenic | 324,302 |
The genetic variant at chromosome 22, position 28689175, affecting gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGA... | GAGGATGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGA... | pathogenic | 324,303 |
For chromosome 22, position 28689180, gene CHEK2 (checkpoint kinase 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Incidental_Discovery'] | TGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAG... | TGAGAATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAG... | pathogenic | 324,308 |
Evaluate if the mutation on chromosome 22 at position 28689184 in CHEK2 (checkpoint kinase 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAG... | AATATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAG... | pathogenic | 324,310 |
Does the genetic variant at chromosome 22, position 28689187, impacting gene CHEK2 (checkpoint kinase 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATC... | ATAACCTGGCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATC... | pathogenic | 324,312 |
Does the variant on chromosome 22 at location 28689195 affecting gene CHEK2 (checkpoint kinase 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast'] | GCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGG... | GCCTGTTATCATGCACCAAGGTACCTGCTGTTCTCATGAAGATGTCTGCAGCCAGCCAGCCAGTCTCTACAAACTCCACCCCCAACCTCGCTATGCTCCCTTCCCTGGAACTTTCCAAGGGGCCCTTAGAATTTGTATTCAGCTCTCACAGGCTGAGACCAGGGTGACATCCTGGGAAACCTGCCTAGTGATAGCCAAGGTGTAGCTCCAGATGAAAGGCACACAACTTTAAATATAAAAAAGCCATTCAGGCTAGGCTCAGTGGCTCATGCGTGTAATCCCAGCACTTTAAGAGACTGAGGCAGACAGATCACCTGAGG... | pathogenic | 324,314 |
Is the genetic variant on chromosome 22, position 28694030, gene CHEK2 (checkpoint kinase 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_cancer_of_breast', 'Li-Fraumeni_syndrome_2'] | CTTCATTCAATGCTCATTCCTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCA... | CTTCATTCAATGCTCATTCCTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCA... | pathogenic | 324,332 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 28694037, gene CHEK2 (checkpoint kinase 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAATGCTCATTCCTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAAT... | CAATGCTCATTCCTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAAT... | pathogenic | 324,336 |
A genetic variant at chromosome 22, position 28694040, affecting gene CHEK2 (checkpoint kinase 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast'] | TGCTCATTCCTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAA... | TGCTCATTCCTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAA... | pathogenic | 324,339 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 28694041, gene CHEK2 (checkpoint kinase 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCTCATTCCTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAA... | GCTCATTCCTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAA... | pathogenic | 324,340 |
The chromosome 22, position 28694049 genetic variant in gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCAC... | CTCCTTTCACTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCAC... | pathogenic | 324,342 |
The genetic variant at chromosome 22, position 28694058, affecting gene CHEK2 (checkpoint kinase 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome'] | CTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGG... | CTGCAAAAACAAAAGGTGGCTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGG... | pathogenic | 324,347 |
Considering the genetic mutation at chromosome 22, position 28694077, impacting CHEK2 (checkpoint kinase 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast'] | CTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACC... | CTAAAAGAGTATTCCAGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACC... | pathogenic | 324,355 |
Determine if the mutation at chromosome 22, position 28694092 in gene CHEK2 (checkpoint kinase 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACCCCTTTCCTCCAGGGT... | AGGGAGATCCTGCAACAGAGTTGAACTTCACCTTCTCCTTGGTTGTTAATAAGTTTTCTTTGACACAAAAAAGTACAAGAAAGATAGGCTATGCTTGCTCATAAATTTCAGGCAGATGCAAACCCTGTTCCCAGGCTCAACTGGCCAGCTCTATTTTTTGTTAGAGATGAACACAGCTCCTGTACCTCTACATTTAGACCCAAGAGTTTCCCTATTAGGACACATGAAAAGAGCCAAAAGACATGTTTCTCTTTTTCATCAAAATTAAAATCCCCACATGCAAAGGCACCCTTTGTTTCCAAACCCCTTTCCTCCAGGGT... | pathogenic | 324,359 |
Clinically, how would you classify the variant at chromosome 22, position 28695109, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCA... | TTATAGCAGTGTGAGAACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCA... | benign | 324,379 |
A genetic variant at chromosome 22, position 28695124, affecting gene CHEK2 (checkpoint kinase 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATA... | AACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATA... | pathogenic | 324,384 |
The mutation impacting CHEK2 (checkpoint kinase 2) on chromosome 22 at position 28695125: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATAC... | ACAGACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATAC... | pathogenic | 324,387 |
Is the variant located on chromosome 22 at position 28695129, gene CHEK2 (checkpoint kinase 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAG... | ACTAATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAG... | pathogenic | 324,391 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 28695133, gene CHEK2 (checkpoint kinase 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bone_osteosarcoma', 'CHEK2-related_cancer_predisposition', 'CHEK2-related_disorder', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Li-Fraumeni_syndrome_2'] | ATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCAC... | ATACACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCAC... | pathogenic | 324,393 |
For chromosome 22, position 28695137, gene CHEK2 (checkpoint kinase 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast'] | ACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGG... | ACAAACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGG... | pathogenic | 324,397 |
Mutation found at chromosome 22 position 28695141, gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTT... | ACCAAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTT... | pathogenic | 324,399 |
Considering the variant on chromosome 22, location 28695144, involving gene CHEK2 (checkpoint kinase 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAG... | AAAAAAAAATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAG... | pathogenic | 324,401 |
A genetic variant on chromosome 22, position 28695151, affects the gene CHEK2 (checkpoint kinase 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGC... | AATTCATAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGC... | pathogenic | 324,404 |
Gene mutation in CHEK2 (checkpoint kinase 2) at chromosome 22, position 28695157—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATT... | TAGAAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATT... | pathogenic | 324,406 |
Regarding the variant found on chromosome 22 at position 28695160 in gene CHEK2 (checkpoint kinase 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_cancer_of_breast'] | AAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTC... | AAAGGGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTC... | pathogenic | 324,408 |
Does the variant on chromosome 22 at location 28695164 affecting gene CHEK2 (checkpoint kinase 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCA... | GGGCATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCA... | pathogenic | 324,409 |
Regarding the variant found on chromosome 22 at position 28695167 in gene CHEK2 (checkpoint kinase 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGG... | CATGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGG... | pathogenic | 324,411 |
Located at chromosome 22 position 28695169, the variant affecting gene CHEK2 (checkpoint kinase 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast'] | TGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAG... | TGTCTGTGCTGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAG... | pathogenic | 324,413 |
Located at chromosome 22 position 28695178, the variant affecting gene CHEK2 (checkpoint kinase 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTC... | TGAATGGAACTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTC... | pathogenic | 324,414 |
Chromosome 22, position 28695187, gene CHEK2 (checkpoint kinase 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast'] | CTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTC... | CTGCTCATTACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTC... | pathogenic | 324,416 |
Does the variant on chromosome 22 at location 28695195 affecting gene CHEK2 (checkpoint kinase 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTT... | TACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTT... | pathogenic | 324,419 |
The chromosome 22, position 28695196 genetic variant in gene CHEK2 (checkpoint kinase 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTC... | ACAGAAGACCAGACATCTATCAGAAAAACCTGCCCAATGCCGTGGCTAATTCTAAAACTAAAGATTAACCCAGCAAAGCCACAACATACTTCCAACTCTTGGCAGTTCCAGATGAGGTCAGCATTTAAAAATGGCAGCCCCAACCCCTAGCAGGAGCACAGCGGTAATACAGATGAAAAGTGCAGGTGACAGCCTTCATTAAGGACACATTTACTCACCTGAATGAACAAGCAGTGGGACCCTTTATACCCAGTCACTTGGGCTTGAGAAATAGCTGGATTCTCCCCAGGGAGGCTGTCCTCCTCCCCCTCCCCCACTTC... | pathogenic | 324,420 |
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