question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Is the genetic mutation found on chromosome 7 at position 148419600, within the gene CNTNAP2 (contactin associated protein 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ATATCAGAACAATGTAACATTTACAAATGACATATTGAAAGCAAAGGCTGTTTTATTTAGCCAAGATGATTACCATTAGGAGTTACTTTATGTATTGTTGAAAGCAAATTTTAAACATGATGTTTTAGAAGTGTTTCTGATTTTTAAACCTGGTTTACAGGTATTACTTCTGCACTTACCAAATAATGCCAGATGGAAATTTATTATTTCTTGCAATTCCCATGATAGCTCTGTTCTTTATGCATTGTCTCAACACTTTCCCTTTTTTCCCAAAATGAGTAGAGAATTAAAGCCACCCAAAACAGCTTCTGCTACTAAAA... | ATATCAGAACAATGTAACATTTACAAATGACATATTGAAAGCAAAGGCTGTTTTATTTAGCCAAGATGATTACCATTAGGAGTTACTTTATGTATTGTTGAAAGCAAATTTTAAACATGATGTTTTAGAAGTGTTTCTGATTTTTAAACCTGGTTTACAGGTATTACTTCTGCACTTACCAAATAATGCCAGATGGAAATTTATTATTTCTTGCAATTCCCATGATAGCTCTGTTCTTTATGCATTGTCTCAACACTTTCCCTTTTTTCCCAAAATGAGTAGAGAATTAAAGCCACCCAAAACAGCTTCTGCTACTAAAA... | benign | 129,831 |
Variant at chromosome position 148807624, chromosome 7, gene EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCCATCTCTACTAAAAACACAAAAATTAGGGGTGGTAGCCCATGCCTATAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGTACTCCAGGCTGATTAGTGACAGAGCAAGACCCTGTCTGTCTTTAAAAAAAAAAAAAAAATCACAAAAAACCTCAATGTTTTAAGAAAGTTTACGAATTTGTGTTGGGCTGTATGCAACCGGCTGTC... | AGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCCATCTCTACTAAAAACACAAAAATTAGGGGTGGTAGCCCATGCCTATAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGTACTCCAGGCTGATTAGTGACAGAGCAAGACCCTGTCTGTCTTTAAAAAAAAAAAAAAAATCACAAAAAACCTCAATGTTTTAAGAAAGTTTACGAATTTGTGTTGGGCTGTATGCAACCGGCTGTC... | benign | 129,836 |
Regarding the variant at chromosome 7 and position 148809078, affecting gene EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Weaver_syndrome'] | AGACTAATGGAGTTTAGAACTAGGTACGTTCTTAAAAATAACCTAAAAGTCTACTCTGTCAGTTTATATATGGGGAACAGACTTGGAGGTTAAATCTCTTTCTCCAGGTTGCACAGCTGACTGGAACGTACCCACCCTGGTCTTGTCTATAAGATCAAGCCCTTTACTGGGTAAGCCCTCAGGATGCACAGCAGTGTTCTTCATATATGTCTTCCACATATTCACAGGCAGTATTAGTTAAATCAAGATTCATACAAAGACAACTAAAAAACCCAAGGAGTTAAATTTAAAAGTTTTTTGTTGAGCAGTCCTGAAAGCAG... | AGACTAATGGAGTTTAGAACTAGGTACGTTCTTAAAAATAACCTAAAAGTCTACTCTGTCAGTTTATATATGGGGAACAGACTTGGAGGTTAAATCTCTTTCTCCAGGTTGCACAGCTGACTGGAACGTACCCACCCTGGTCTTGTCTATAAGATCAAGCCCTTTACTGGGTAAGCCCTCAGGATGCACAGCAGTGTTCTTCATATATGTCTTCCACATATTCACAGGCAGTATTAGTTAAATCAAGATTCATACAAAGACAACTAAAAAACCCAAGGAGTTAAATTTAAAAGTTTTTTGTTGAGCAGTCCTGAAAGCAG... | pathogenic | 129,844 |
Located at chromosome 7 position 148832759, the variant affecting gene EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GAAGACAACAGAGAAGAAAGAAGAATAGCCAATCAAACAAAAGTTAAGACAGAATAGAATAGTTAAGCATACAAGGTAAAGAAAGTTGACATTCATAGGAGGAAGAGCATTTTCAATGAAGAATAAAAATGACAGCAGTTATAGATAAAGACTGGACAGTTCTGAAGTACATGTTTAAAGAGACTAATTCCAAGTGAAGACAAGTCTAAGTCTTAAGAGGCCTTTGAAAAGAGTATTGGTTGAAAACAGAATTTTAGAAAGATAATTATAATAAGCAGAATGGACTGGCTATGCCTGACTGGGAGGACACAGAAGCTCTT... | GAAGACAACAGAGAAGAAAGAAGAATAGCCAATCAAACAAAAGTTAAGACAGAATAGAATAGTTAAGCATACAAGGTAAAGAAAGTTGACATTCATAGGAGGAAGAGCATTTTCAATGAAGAATAAAAATGACAGCAGTTATAGATAAAGACTGGACAGTTCTGAAGTACATGTTTAAAGAGACTAATTCCAAGTGAAGACAAGTCTAAGTCTTAAGAGGCCTTTGAAAAGAGTATTGGTTGAAAACAGAATTTTAGAAAGATAATTATAATAAGCAGAATGGACTGGCTATGCCTGACTGGGAGGACACAGAAGCTCTT... | benign | 129,893 |
Clinical significance of chromosome 7, position 148846601, gene EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTCCTTTTCCCCCATACTCTGTGAAAATGTTTATTCTCAATCTGCGTGTGTGTGTGGTACTGTGGAAGTACTAACTTTAGAAAACAATTTTGTTTTATTAAAATGCTGATTTCTTCTCCCAATTTTTCACATAAACTCACGAACATTAGGTATCTTTATATTCAACGATTTGTCTCCATTTGACAAAATTAAAAGAAAATTTCAATTAGTAAATATCCACTTGAACAAACAATACTCTTAAATTTAATGCCAAATATACTATGAGCAATTCAAGTTGTATGTCAATAATGTACTTCACTAATACTTCATGTGTCTGAGCA... | CTCCTTTTCCCCCATACTCTGTGAAAATGTTTATTCTCAATCTGCGTGTGTGTGTGGTACTGTGGAAGTACTAACTTTAGAAAACAATTTTGTTTTATTAAAATGCTGATTTCTTCTCCCAATTTTTCACATAAACTCACGAACATTAGGTATCTTTATATTCAACGATTTGTCTCCATTTGACAAAATTAAAAGAAAATTTCAATTAGTAAATATCCACTTGAACAAACAATACTCTTAAATTTAATGCCAAATATACTATGAGCAATTCAAGTTGTATGTCAATAATGTACTTCACTAATACTTCATGTGTCTGAGCA... | benign | 129,897 |
Gene mutation in EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) at chromosome 7, position 148846601—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CTCCTTTTCCCCCATACTCTGTGAAAATGTTTATTCTCAATCTGCGTGTGTGTGTGGTACTGTGGAAGTACTAACTTTAGAAAACAATTTTGTTTTATTAAAATGCTGATTTCTTCTCCCAATTTTTCACATAAACTCACGAACATTAGGTATCTTTATATTCAACGATTTGTCTCCATTTGACAAAATTAAAAGAAAATTTCAATTAGTAAATATCCACTTGAACAAACAATACTCTTAAATTTAATGCCAAATATACTATGAGCAATTCAAGTTGTATGTCAATAATGTACTTCACTAATACTTCATGTGTCTGAGCA... | CTCCTTTTCCCCCATACTCTGTGAAAATGTTTATTCTCAATCTGCGTGTGTGTGTGGTACTGTGGAAGTACTAACTTTAGAAAACAATTTTGTTTTATTAAAATGCTGATTTCTTCTCCCAATTTTTCACATAAACTCACGAACATTAGGTATCTTTATATTCAACGATTTGTCTCCATTTGACAAAATTAAAAGAAAATTTCAATTAGTAAATATCCACTTGAACAAACAATACTCTTAAATTTAATGCCAAATATACTATGAGCAATTCAAGTTGTATGTCAATAATGTACTTCACTAATACTTCATGTGTCTGAGCA... | benign | 129,898 |
Variant in EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit), chromosome 7, position 148846613—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | CATACTCTGTGAAAATGTTTATTCTCAATCTGCGTGTGTGTGTGGTACTGTGGAAGTACTAACTTTAGAAAACAATTTTGTTTTATTAAAATGCTGATTTCTTCTCCCAATTTTTCACATAAACTCACGAACATTAGGTATCTTTATATTCAACGATTTGTCTCCATTTGACAAAATTAAAAGAAAATTTCAATTAGTAAATATCCACTTGAACAAACAATACTCTTAAATTTAATGCCAAATATACTATGAGCAATTCAAGTTGTATGTCAATAATGTACTTCACTAATACTTCATGTGTCTGAGCAAAGTGTGCTCTT... | CATACTCTGTGAAAATGTTTATTCTCAATCTGCGTGTGTGTGTGGTACTGTGGAAGTACTAACTTTAGAAAACAATTTTGTTTTATTAAAATGCTGATTTCTTCTCCCAATTTTTCACATAAACTCACGAACATTAGGTATCTTTATATTCAACGATTTGTCTCCATTTGACAAAATTAAAAGAAAATTTCAATTAGTAAATATCCACTTGAACAAACAATACTCTTAAATTTAATGCCAAATATACTATGAGCAATTCAAGTTGTATGTCAATAATGTACTTCACTAATACTTCATGTGTCTGAGCAAAGTGTGCTCTT... | benign | 129,899 |
Mutation found at chromosome 7 position 148884323, gene EZH2: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TTTATCATATAGGACAGTGCAACCAGAAGAACGCCTATGTTTTTCTAACTTGTTTTCTTGGAATATATTCACTTTCCACAAAAACGAGAATTTAAGATGCAGTGTTCCTGTTTCCGGGAAACCTTAAATATTACATCACCCAACACACCTCCGAAAAGAGAGAACAAGACGCTTTATATCTATGACTAGAATCCTACCTATTCCTAACTTTAGAGACCATGAATAGAAAATTAAAATATATCTTAAATACTTGTTTTCCTGCAAATAAAATTACAAATAAACAAGTTAGGATTACACACTTGTACAGTATTCCTAAACAT... | TTTATCATATAGGACAGTGCAACCAGAAGAACGCCTATGTTTTTCTAACTTGTTTTCTTGGAATATATTCACTTTCCACAAAAACGAGAATTTAAGATGCAGTGTTCCTGTTTCCGGGAAACCTTAAATATTACATCACCCAACACACCTCCGAAAAGAGAGAACAAGACGCTTTATATCTATGACTAGAATCCTACCTATTCCTAACTTTAGAGACCATGAATAGAAAATTAAAATATATCTTAAATACTTGTTTTCCTGCAAATAAAATTACAAATAAACAAGTTAGGATTACACACTTGTACAGTATTCCTAAACAT... | benign | 129,901 |
Gene mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2) at chromosome 7, position 150945521—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GCACAAACCTGTCTTTTCTGCCTGGCATCCCTCTCTGTCACCCCTCTCCCCCTCTGACCTGTGGATCTCTTCCTTCTCCCTGTCTCTCCCAGGCCCTGGAAAGGGGGAGATCCCTTCCTTCTCTCCTCCCTGCTCTGGGCACAGGGAACCTTCCAGGCTGCTCAGAGACCAACACCCGCCCCACCCAGGCATGGGCAGTGAGAACGGCACAGTTGTCTTTAAAACAGTCAACAGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCC... | GCACAAACCTGTCTTTTCTGCCTGGCATCCCTCTCTGTCACCCCTCTCCCCCTCTGACCTGTGGATCTCTTCCTTCTCCCTGTCTCTCCCAGGCCCTGGAAAGGGGGAGATCCCTTCCTTCTCTCCTCCCTGCTCTGGGCACAGGGAACCTTCCAGGCTGCTCAGAGACCAACACCCGCCCCACCCAGGCATGGGCAGTGAGAACGGCACAGTTGTCTTTAAAACAGTCAACAGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCC... | benign | 129,933 |
The mutation in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) at chromosome 7, position 150946955—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Long_QT_syndrome'] | ACAGGAACACAGGACACAGCAAGTAACAGTTACACCCTCCCAGCACCACTGGAGTCTCCTCAGGATAATTATTTATTATTCATAGTCATCAGCATCTTCATTAATTATTCATATGATCCTTAATTATTATCCTTAACAATAAGAGCAGTAAATAGCAGAAAAGTCCTTGAGGTGCCTAAGGCCCAGGGCCGGGTGCCTCCGGGCAGTTAGACCAGCTAATGCCCTCAGGGCAGTGGGGGGACCACAGGCCCCACCTACTGCCGGCCCTGCCCCTGCCCCTCTCACTGGGGCCCAGGGGACTGCAGGAGAAGATGGTCCCA... | ACAGGAACACAGGACACAGCAAGTAACAGTTACACCCTCCCAGCACCACTGGAGTCTCCTCAGGATAATTATTTATTATTCATAGTCATCAGCATCTTCATTAATTATTCATATGATCCTTAATTATTATCCTTAACAATAAGAGCAGTAAATAGCAGAAAAGTCCTTGAGGTGCCTAAGGCCCAGGGCCGGGTGCCTCCGGGCAGTTAGACCAGCTAATGCCCTCAGGGCAGTGGGGGGACCACAGGCCCCACCTACTGCCGGCCCTGCCCCTGCCCCTCTCACTGGGGCCCAGGGGACTGCAGGAGAAGATGGTCCCA... | pathogenic | 129,942 |
Evaluate the clinical significance of the mutation at chromosome 7, position 150946975 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AAGTAACAGTTACACCCTCCCAGCACCACTGGAGTCTCCTCAGGATAATTATTTATTATTCATAGTCATCAGCATCTTCATTAATTATTCATATGATCCTTAATTATTATCCTTAACAATAAGAGCAGTAAATAGCAGAAAAGTCCTTGAGGTGCCTAAGGCCCAGGGCCGGGTGCCTCCGGGCAGTTAGACCAGCTAATGCCCTCAGGGCAGTGGGGGGACCACAGGCCCCACCTACTGCCGGCCCTGCCCCTGCCCCTCTCACTGGGGCCCAGGGGACTGCAGGAGAAGATGGTCCCAAGGGCTGGGGGAGGAGCTGT... | AAGTAACAGTTACACCCTCCCAGCACCACTGGAGTCTCCTCAGGATAATTATTTATTATTCATAGTCATCAGCATCTTCATTAATTATTCATATGATCCTTAATTATTATCCTTAACAATAAGAGCAGTAAATAGCAGAAAAGTCCTTGAGGTGCCTAAGGCCCAGGGCCGGGTGCCTCCGGGCAGTTAGACCAGCTAATGCCCTCAGGGCAGTGGGGGGACCACAGGCCCCACCTACTGCCGGCCCTGCCCCTGCCCCTCTCACTGGGGCCCAGGGGACTGCAGGAGAAGATGGTCCCAAGGGCTGGGGGAGGAGCTGT... | pathogenic | 129,944 |
The mutation in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) at chromosome 7, position 150947034—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Long_QT_syndrome'] | TCATAGTCATCAGCATCTTCATTAATTATTCATATGATCCTTAATTATTATCCTTAACAATAAGAGCAGTAAATAGCAGAAAAGTCCTTGAGGTGCCTAAGGCCCAGGGCCGGGTGCCTCCGGGCAGTTAGACCAGCTAATGCCCTCAGGGCAGTGGGGGGACCACAGGCCCCACCTACTGCCGGCCCTGCCCCTGCCCCTCTCACTGGGGCCCAGGGGACTGCAGGAGAAGATGGTCCCAAGGGCTGGGGGAGGAGCTGTGCTTTCGAGTTCCTCTCCCCTTCCACGGTCAGGGCCTCCTGAGCAGGGCCTCCAAGGGG... | TCATAGTCATCAGCATCTTCATTAATTATTCATATGATCCTTAATTATTATCCTTAACAATAAGAGCAGTAAATAGCAGAAAAGTCCTTGAGGTGCCTAAGGCCCAGGGCCGGGTGCCTCCGGGCAGTTAGACCAGCTAATGCCCTCAGGGCAGTGGGGGGACCACAGGCCCCACCTACTGCCGGCCCTGCCCCTGCCCCTCTCACTGGGGCCCAGGGGACTGCAGGAGAAGATGGTCCCAAGGGCTGGGGGAGGAGCTGTGCTTTCGAGTTCCTCTCCCCTTCCACGGTCAGGGCCTCCTGAGCAGGGCCTCCAAGGGG... | pathogenic | 129,951 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 150947367, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): what disease(s) if pathogenic? | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | CGCCTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTC... | CGCCTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTC... | pathogenic | 129,965 |
Variant at chromosome 7, position 150947367, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | CGCCTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTC... | CGCCTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTC... | pathogenic | 129,966 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 150947370, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): what disease(s) if pathogenic? | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | CTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGG... | CTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGG... | pathogenic | 129,967 |
Variant in KCNH2 (potassium voltage-gated channel subfamily H member 2), chromosome 7, position 150947370—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | CTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGG... | CTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGG... | pathogenic | 129,968 |
Considering the genetic mutation at chromosome 7, position 150947371, impacting KCNH2 (potassium voltage-gated channel subfamily H member 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2'] | TTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGT... | TTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGT... | pathogenic | 129,969 |
Located at chromosome 7 position 150947371, the variant affecting gene KCNH2 (potassium voltage-gated channel subfamily H member 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | TTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGT... | TTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGT... | pathogenic | 129,970 |
Is the genetic variant on chromosome 7, position 150947372, gene KCNH2 (potassium voltage-gated channel subfamily H member 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | TGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTG... | TGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTG... | pathogenic | 129,972 |
Chromosome 7, position 150947372, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Long_QT_syndrome'] | TGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTG... | TGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTG... | pathogenic | 129,973 |
Does the genetic variant at chromosome 7, position 150947372, impacting gene KCNH2 (potassium voltage-gated channel subfamily H member 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | TGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTG... | TGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTG... | pathogenic | 129,974 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 150947373, gene KCNH2 (potassium voltage-gated channel subfamily H member 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype'] | GATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGG... | GATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGG... | pathogenic | 129,975 |
Chromosome 7, position 150947373, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Long_QT_syndrome'] | GATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGG... | GATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGG... | pathogenic | 129,976 |
Considering the variant on chromosome 7, location 150947376, involving gene KCNH2 (potassium voltage-gated channel subfamily H member 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Long_QT_syndrome'] | CCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCA... | CCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCA... | pathogenic | 129,978 |
Gene mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2) at chromosome 7, position 150947377—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | CCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAG... | CCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAG... | pathogenic | 129,979 |
Clinical significance of chromosome 7, position 150947380, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_2'] | GGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGA... | GGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGA... | pathogenic | 129,980 |
Variant in KCNH2 (potassium voltage-gated channel subfamily H member 2), chromosome 7, position 150947380—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2'] | GGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGA... | GGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGA... | pathogenic | 129,981 |
Clinically, how would you classify the variant at chromosome 7, position 150947380, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Long_QT_syndrome'] | GGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGA... | GGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGA... | pathogenic | 129,982 |
Classify the chromosome 7 variant at position 150947380 affecting gene KCNH2 (potassium voltage-gated channel subfamily H member 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Long_QT_syndrome'] | GGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGA... | GGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGA... | pathogenic | 129,983 |
The mutation impacting KCNH2 (potassium voltage-gated channel subfamily H member 2) on chromosome 7 at position 150947381: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Long_QT_syndrome'] | GGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAA... | GGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAA... | pathogenic | 129,984 |
Gene KCNH2 (potassium voltage-gated channel subfamily H member 2) variant at chromosome 7, position 150947383—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | TGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGC... | TGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGC... | pathogenic | 129,985 |
The mutation impacting KCNH2 (potassium voltage-gated channel subfamily H member 2) on chromosome 7 at position 150947385: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTG... | AGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTG... | pathogenic | 129,987 |
Variant at chromosome position 150947386, chromosome 7, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | GCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGG... | GCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGG... | pathogenic | 129,988 |
Variant in gene KCNH2 (potassium voltage-gated channel subfamily H member 2), located at chromosome 7 position 150947387: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome'] | CCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGA... | CCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGA... | pathogenic | 129,991 |
Clinical significance of chromosome 7, position 150947419, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_2'] | GCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGAC... | GCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGAC... | pathogenic | 129,996 |
Variant chromosome 7, position 150947462, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? Disease(s)? | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_2', 'Short_QT_syndrome_type_1'] | GCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAG... | GCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAG... | pathogenic | 130,005 |
Clinical classification of chromosome 7, position 150947512, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | AAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAAC... | AAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAAC... | pathogenic | 130,010 |
Mutation found at chromosome 7 position 150947610, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2', 'Short_QT_syndrome_type_1'] | AGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAA... | AGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAA... | pathogenic | 130,016 |
Regarding the variant found on chromosome 7 at position 150947652 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2'] | ATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGA... | ATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGA... | pathogenic | 130,023 |
Does the chromosome 7 mutation at position 150947664 within gene KCNH2 (potassium voltage-gated channel subfamily H member 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Long_QT_syndrome'] | ACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGA... | ACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGA... | pathogenic | 130,027 |
Determine whether the variant at chromosome 7, position 150947667, in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | GGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGC... | GGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGC... | pathogenic | 130,028 |
Is the chromosome 7, position 150947670 variant in KCNH2 (potassium voltage-gated channel subfamily H member 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_2'] | GGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGG... | GGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGG... | pathogenic | 130,031 |
Benign or pathogenic: chromosome 7, position 150947676, gene KCNH2 (potassium voltage-gated channel subfamily H member 2) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCG... | AGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCG... | pathogenic | 130,034 |
Does the variant impacting KCNH2 (potassium voltage-gated channel subfamily H member 2) on chromosome 7, position 150947678, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGC... | AGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGC... | pathogenic | 130,035 |
Determine if the mutation at chromosome 7, position 150947678 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiac_arrhythmia'] | AGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGC... | AGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGC... | pathogenic | 130,036 |
Does the genetic variant at chromosome 7, position 150947683, impacting gene KCNH2 (potassium voltage-gated channel subfamily H member 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype'] | AGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGC... | AGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGC... | pathogenic | 130,040 |
Chromosome 7, position 150947713, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAG... | AAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAG... | pathogenic | 130,042 |
Assess the variant on chromosome 7, position 150947785, impacting KCNH2 (potassium voltage-gated channel subfamily H member 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome'] | TTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGG... | TTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGG... | pathogenic | 130,045 |
The mutation impacting KCNH2 (potassium voltage-gated channel subfamily H member 2) on chromosome 7 at position 150947785: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Long_QT_syndrome'] | TTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGG... | TTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGG... | pathogenic | 130,046 |
Considering the variant on chromosome 7, location 150947793, involving gene KCNH2 (potassium voltage-gated channel subfamily H member 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | GAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTG... | GAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTG... | pathogenic | 130,049 |
Located at chromosome 7 position 150947795, the variant affecting gene KCNH2 (potassium voltage-gated channel subfamily H member 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_1/2,_digenic', 'Long_QT_syndrome_2'] | GCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCT... | GCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCT... | pathogenic | 130,050 |
Variant on chromosome 7, at position 150947795, affecting KCNH2 (potassium voltage-gated channel subfamily H member 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome'] | GCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCT... | GCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCT... | pathogenic | 130,051 |
Determine whether the variant at chromosome 7, position 150947796, in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype'] | CAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTG... | CAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTG... | pathogenic | 130,053 |
Considering the genetic mutation at chromosome 7, position 150947798, impacting KCNH2 (potassium voltage-gated channel subfamily H member 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | GGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGAC... | GGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGAC... | pathogenic | 130,054 |
A mutation at chromosome position 150947804 on chromosome 7 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype'] | AAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGC... | AAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGC... | pathogenic | 130,057 |
Clinical classification of chromosome 7, position 150947808, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTC... | AAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTC... | pathogenic | 130,058 |
For chromosome 7, position 150947808, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTC... | AAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTC... | pathogenic | 130,059 |
Clinically, how would you classify the variant at chromosome 7, position 150947826, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | GAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGC... | GAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGC... | pathogenic | 130,064 |
Is the genetic mutation found on chromosome 7 at position 150947827, within the gene KCNH2 (potassium voltage-gated channel subfamily H member 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_2'] | AAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCA... | AAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCA... | pathogenic | 130,065 |
Evaluate the clinical significance of the mutation at chromosome 7, position 150947832 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome_2'] | CCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAG... | CCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAG... | pathogenic | 130,066 |
A genetic alteration at chromosome 7, position 150947832, in gene KCNH2 (potassium voltage-gated channel subfamily H member 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | CCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAG... | CCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAG... | pathogenic | 130,067 |
Considering the genetic mutation at chromosome 7, position 150947842, impacting KCNH2 (potassium voltage-gated channel subfamily H member 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Congenital_long_QT_syndrome', 'Long_QT_syndrome'] | TGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAG... | TGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAG... | pathogenic | 130,068 |
Is the genetic variant on chromosome 7, position 150947865, gene KCNH2 (potassium voltage-gated channel subfamily H member 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2'] | CCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAG... | CCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAG... | pathogenic | 130,071 |
Does the chromosome 7 mutation at position 150948449 within gene KCNH2 (potassium voltage-gated channel subfamily H member 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | GGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCA... | GGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCA... | pathogenic | 130,082 |
Classify the chromosome 7 variant at position 150948455 affecting gene KCNH2 (potassium voltage-gated channel subfamily H member 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2'] | GCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTC... | GCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTC... | pathogenic | 130,084 |
Does the variant on chromosome 7 at location 150948519 affecting gene KCNH2 (potassium voltage-gated channel subfamily H member 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_2'] | CTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCC... | CTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCC... | pathogenic | 130,094 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 150948977, gene KCNH2 (potassium voltage-gated channel subfamily H member 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | GGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCT... | GGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCT... | pathogenic | 130,117 |
Does the variant on chromosome 7 at location 150948991 affecting gene KCNH2 (potassium voltage-gated channel subfamily H member 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Long_QT_syndrome_2'] | GGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGA... | GGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGA... | pathogenic | 130,123 |
Variant on chromosome 7, at position 150948996, affecting KCNH2 (potassium voltage-gated channel subfamily H member 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | CAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACA... | CAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACA... | pathogenic | 130,127 |
Mutation found at chromosome 7 position 150951082, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Congenital_long_QT_syndrome', 'Long_QT_syndrome'] | AAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTA... | AAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTA... | pathogenic | 130,189 |
Is the variant located on chromosome 7 at position 150951106, gene KCNH2 (potassium voltage-gated channel subfamily H member 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | CATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAG... | CATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAG... | pathogenic | 130,194 |
For chromosome 7, position 150951477, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2'] | TTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGG... | TTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGG... | pathogenic | 130,208 |
For chromosome 7, position 150951691, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Long_QT_syndrome'] | GGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAA... | GGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAA... | pathogenic | 130,261 |
The mutation in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) at chromosome 7, position 150951763—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | ACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGG... | ACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGG... | pathogenic | 130,281 |
Chromosome 7, position 150951814, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | TTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCC... | TTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCC... | pathogenic | 130,289 |
The mutation in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) at chromosome 7, position 150952457—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_2'] | GCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCC... | GCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCC... | pathogenic | 130,302 |
Is the chromosome 7, position 150952468 variant in KCNH2 (potassium voltage-gated channel subfamily H member 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Long_QT_syndrome'] | CCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGC... | CCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGC... | pathogenic | 130,305 |
Assess the variant on chromosome 7, position 150952696, impacting KCNH2 (potassium voltage-gated channel subfamily H member 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Long_QT_syndrome'] | GTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGT... | GTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGT... | pathogenic | 130,334 |
Mutation at chromosome 7, position 150952839, within KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype'] | GCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCA... | GCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCA... | pathogenic | 130,356 |
Does the genetic variant at chromosome 7, position 150952842, impacting gene KCNH2 (potassium voltage-gated channel subfamily H member 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2'] | ACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATAC... | ACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATAC... | pathogenic | 130,357 |
Determine if the mutation at chromosome 7, position 150957316 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Long_QT_syndrome_2'] | CCCACGGCTCCCAAAGCTTCCTACTTCCCAGCAGCCCTCTCCCCAGCCTGGAGTCAGAGCCCTTGGGCCAGCCACCTGCCTCAGTGTGCCGGCCCCAGAAAGAAGAGGAAGGACCGGGTGTCACCTACCTCCTGGGCCACGAGGCTGGAGATGCGCACGGCCCGCCTCACCCGGCCTTTCTGGGCCCTGGGCCGCAGAGCCCCTGTCCTGCTCGCCTTCCCGGCTGGGGCCGCCATGGAGGACTTGGCTCCCTGCAGCCTGCCTGCCCTGGGGCCTGAGGGCCCGGCCACTGCCTCACCTGCACCCCAGCAGCAGTCCCA... | CCCACGGCTCCCAAAGCTTCCTACTTCCCAGCAGCCCTCTCCCCAGCCTGGAGTCAGAGCCCTTGGGCCAGCCACCTGCCTCAGTGTGCCGGCCCCAGAAAGAAGAGGAAGGACCGGGTGTCACCTACCTCCTGGGCCACGAGGCTGGAGATGCGCACGGCCCGCCTCACCCGGCCTTTCTGGGCCCTGGGCCGCAGAGCCCCTGTCCTGCTCGCCTTCCCGGCTGGGGCCGCCATGGAGGACTTGGCTCCCTGCAGCCTGCCTGCCCTGGGGCCTGAGGGCCCGGCCACTGCCTCACCTGCACCCCAGCAGCAGTCCCA... | pathogenic | 130,378 |
Does the variant impacting KCNH2 (potassium voltage-gated channel subfamily H member 2) on chromosome 7, position 150957404, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Long_QT_syndrome'] | CCGGCCCCAGAAAGAAGAGGAAGGACCGGGTGTCACCTACCTCCTGGGCCACGAGGCTGGAGATGCGCACGGCCCGCCTCACCCGGCCTTTCTGGGCCCTGGGCCGCAGAGCCCCTGTCCTGCTCGCCTTCCCGGCTGGGGCCGCCATGGAGGACTTGGCTCCCTGCAGCCTGCCTGCCCTGGGGCCTGAGGGCCCGGCCACTGCCTCACCTGCACCCCAGCAGCAGTCCCAGCCCAGGCTGCACCCCCGAGGCTGGCCGACTGGCAACCAGAGCAGCCCCTGGCATGAAGCCAGGGTGGTTGTGGCTGGGCCCCAGGGC... | CCGGCCCCAGAAAGAAGAGGAAGGACCGGGTGTCACCTACCTCCTGGGCCACGAGGCTGGAGATGCGCACGGCCCGCCTCACCCGGCCTTTCTGGGCCCTGGGCCGCAGAGCCCCTGTCCTGCTCGCCTTCCCGGCTGGGGCCGCCATGGAGGACTTGGCTCCCTGCAGCCTGCCTGCCCTGGGGCCTGAGGGCCCGGCCACTGCCTCACCTGCACCCCAGCAGCAGTCCCAGCCCAGGCTGCACCCCCGAGGCTGGCCGACTGGCAACCAGAGCAGCCCCTGGCATGAAGCCAGGGTGGTTGTGGCTGGGCCCCAGGGC... | pathogenic | 130,385 |
Variant at chromosome 7, position 150957427, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_2'] | GACCGGGTGTCACCTACCTCCTGGGCCACGAGGCTGGAGATGCGCACGGCCCGCCTCACCCGGCCTTTCTGGGCCCTGGGCCGCAGAGCCCCTGTCCTGCTCGCCTTCCCGGCTGGGGCCGCCATGGAGGACTTGGCTCCCTGCAGCCTGCCTGCCCTGGGGCCTGAGGGCCCGGCCACTGCCTCACCTGCACCCCAGCAGCAGTCCCAGCCCAGGCTGCACCCCCGAGGCTGGCCGACTGGCAACCAGAGCAGCCCCTGGCATGAAGCCAGGGTGGTTGTGGCTGGGCCCCAGGGCTGGGGTCACCCTGGCAGTAAGCG... | GACCGGGTGTCACCTACCTCCTGGGCCACGAGGCTGGAGATGCGCACGGCCCGCCTCACCCGGCCTTTCTGGGCCCTGGGCCGCAGAGCCCCTGTCCTGCTCGCCTTCCCGGCTGGGGCCGCCATGGAGGACTTGGCTCCCTGCAGCCTGCCTGCCCTGGGGCCTGAGGGCCCGGCCACTGCCTCACCTGCACCCCAGCAGCAGTCCCAGCCCAGGCTGCACCCCCGAGGCTGGCCGACTGGCAACCAGAGCAGCCCCTGGCATGAAGCCAGGGTGGTTGTGGCTGGGCCCCAGGGCTGGGGTCACCCTGGCAGTAAGCG... | pathogenic | 130,386 |
Evaluate if the mutation on chromosome 7 at position 150958064 in KCNH2 (potassium voltage-gated channel subfamily H member 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | CCCCGCCCAGCCGGTCCAGTGCTGAGCCAGCCAGAGTCAGACAGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGC... | CCCCGCCCAGCCGGTCCAGTGCTGAGCCAGCCAGAGTCAGACAGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGC... | pathogenic | 130,402 |
For chromosome 7, position 150958081, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Congenital_long_QT_syndrome', 'Long_QT_syndrome'] | AGTGCTGAGCCAGCCAGAGTCAGACAGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAG... | AGTGCTGAGCCAGCCAGAGTCAGACAGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAG... | pathogenic | 130,403 |
Regarding the variant found on chromosome 7 at position 150958089 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Long_QT_syndrome'] | GCCAGCCAGAGTCAGACAGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGC... | GCCAGCCAGAGTCAGACAGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGC... | pathogenic | 130,405 |
Evaluate if the mutation on chromosome 7 at position 150958106 in KCNH2 (potassium voltage-gated channel subfamily H member 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Long_QT_syndrome'] | AGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGC... | AGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGC... | pathogenic | 130,407 |
Chromosome 7, position 150958148, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Long_QT_syndrome'] | ACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGC... | ACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGC... | pathogenic | 130,412 |
Assess the variant on chromosome 7, position 150958220, impacting KCNH2 (potassium voltage-gated channel subfamily H member 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | CACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACT... | CACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACT... | pathogenic | 130,423 |
A genetic variant at chromosome 7, position 150958296, affecting gene KCNH2 (potassium voltage-gated channel subfamily H member 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_2'] | TGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGT... | TGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGT... | pathogenic | 130,437 |
For chromosome 7, position 150958306, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTG... | AGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTG... | pathogenic | 130,439 |
Chromosome 7, position 150958402, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Long_QT_syndrome'] | AGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTG... | AGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTG... | pathogenic | 130,447 |
Considering the variant on chromosome 7, location 150958406, involving gene KCNH2 (potassium voltage-gated channel subfamily H member 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | CGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCC... | CGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCC... | pathogenic | 130,448 |
A mutation at chromosome position 150958423 on chromosome 7 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Long_QT_syndrome'] | AGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACC... | AGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACC... | pathogenic | 130,454 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 150959590, gene KCNH2 (potassium voltage-gated channel subfamily H member 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2'] | GCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGA... | GCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGA... | pathogenic | 130,474 |
Does the genetic variant at chromosome 7, position 150959590, impacting gene KCNH2 (potassium voltage-gated channel subfamily H member 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2'] | GCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGA... | GCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGA... | pathogenic | 130,475 |
Is the chromosome 7, position 150959621 variant in KCNH2 (potassium voltage-gated channel subfamily H member 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATA... | AGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATA... | pathogenic | 130,483 |
A genetic alteration at chromosome 7, position 150959641, in gene KCNH2 (potassium voltage-gated channel subfamily H member 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Long_QT_syndrome'] | CACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATG... | CACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATG... | pathogenic | 130,485 |
Considering the variant on chromosome 7, location 150959670, involving gene KCNH2 (potassium voltage-gated channel subfamily H member 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | AGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCC... | AGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCC... | pathogenic | 130,488 |
Evaluate the clinical significance of the mutation at chromosome 7, position 150974710 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | GTAACCTGGAGAGGGGACAAGTTTGAACTTGGGCTGGGGATCTGGGTTCTAATCCCACTCCTTCCACTGATTCACTGGTCATCAGACCTCTGCTTCTCCGTCCTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGG... | GTAACCTGGAGAGGGGACAAGTTTGAACTTGGGCTGGGGATCTGGGTTCTAATCCCACTCCTTCCACTGATTCACTGGTCATCAGACCTCTGCTTCTCCGTCCTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGG... | pathogenic | 130,499 |
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