question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Variant in GNAS (GNAS complex locus), chromosome 20, position 58903701—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['ACTH-independent_macronodular_adrenal_hyperplasia_1', 'GNAS-related_disorder', 'McCune-Albright_syndrome', 'Pituitary_adenoma_3,_multiple_types', 'Progressive_osseous_heteroplasia', 'Pseudohypoparathyroidism_type_1B', 'Pseudohypoparathyroidism_type_1C', 'Pseudohypoparathyroidism_type_I_A', 'Pseudopseudohy... | ACCTGTGAAAGGGGCTTCACGTAGGAAGGGGGCGAGATGGGATCCTTCAGCAGGTGAAGGCCCAGAAGTACACAGACATTTATTCAGAAAGAATAAATTTGTAAGTATAATTCTTTGAGAAAGGAAAGACCAAATGATTTGTGGAAGGCCTGTCGACAGGCCCGCACTTGACCCCACCGTCCGTCCCCGCCCCCCACCCCTGCTGCTCCACTGACTGCCCTGCCCTGCTCGTCTGCTCGTCTGCTCTTGCTAATTAACCTCCCTTCGCCTTTCCTCTGCCTTAACTGTCGTGTTCTAGTCTGGAGAGATTATATGTTTTA... | ACCTGTGAAAGGGGCTTCACGTAGGAAGGGGGCGAGATGGGATCCTTCAGCAGGTGAAGGCCCAGAAGTACACAGACATTTATTCAGAAAGAATAAATTTGTAAGTATAATTCTTTGAGAAAGGAAAGACCAAATGATTTGTGGAAGGCCTGTCGACAGGCCCGCACTTGACCCCACCGTCCGTCCCCGCCCCCCACCCCTGCTGCTCCACTGACTGCCCTGCCCTGCTCGTCTGCTCGTCTGCTCTTGCTAATTAACCTCCCTTCGCCTTTCCTCTGCCTTAACTGTCGTGTTCTAGTCTGGAGAGATTATATGTTTTA... | pathogenic | 315,147 |
Considering the genetic mutation at chromosome 20, position 58905394, impacting GNAS (GNAS complex locus): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['ACTH-independent_macronodular_adrenal_hyperplasia_1', 'McCune-Albright_syndrome', 'Pituitary_adenoma_3,_multiple_types', 'Progressive_osseous_heteroplasia', 'Pseudohypoparathyroidism_type_1B', 'Pseudohypoparathyroidism_type_1C', 'Pseudohypoparathyroidism_type_I_A', 'Pseudopseudohypoparathyroidism'] | ACATTTGGGAGGTTATAATTTGCAACTATGTTTATTCAGCTACCTCCAATCTTTGCACAGATCCGAACCCACAACTCCCTGAAGAACAGAATACTATGCTTTTTAGTCGGGATGTCTTTATGAAAGCAGTACTCCTAACTGACATGGTGCAATATGATTTTCTTTTCTTTTCAATCCCACTGCAGTGAGAAGGCAACCAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTGAAGTACGTGCTGGCTCCTTGTGCTGTCTGTCTTGTAGCGCCCTCCCAGCCAGTGCTGTTCCCTGACCGCTTTGCTAAATCAT... | ACATTTGGGAGGTTATAATTTGCAACTATGTTTATTCAGCTACCTCCAATCTTTGCACAGATCCGAACCCACAACTCCCTGAAGAACAGAATACTATGCTTTTTAGTCGGGATGTCTTTATGAAAGCAGTACTCCTAACTGACATGGTGCAATATGATTTTCTTTTCTTTTCAATCCCACTGCAGTGAGAAGGCAACCAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTGAAGTACGTGCTGGCTCCTTGTGCTGTCTGTCTTGTAGCGCCCTCCCAGCCAGTGCTGTTCCCTGACCGCTTTGCTAAATCAT... | pathogenic | 315,159 |
The mutation impacting GNAS (GNAS complex locus) on chromosome 20 at position 58905465: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | CAACTCCCTGAAGAACAGAATACTATGCTTTTTAGTCGGGATGTCTTTATGAAAGCAGTACTCCTAACTGACATGGTGCAATATGATTTTCTTTTCTTTTCAATCCCACTGCAGTGAGAAGGCAACCAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTGAAGTACGTGCTGGCTCCTTGTGCTGTCTGTCTTGTAGCGCCCTCCCAGCCAGTGCTGTTCCCTGACCGCTTTGCTAAATCATTTTCAGACCATTGTGGCCGCCATGAGCAACCTGGTGCCCCCCGTGGAGCTGGCCAACCCCGAGAACCAGTT... | CAACTCCCTGAAGAACAGAATACTATGCTTTTTAGTCGGGATGTCTTTATGAAAGCAGTACTCCTAACTGACATGGTGCAATATGATTTTCTTTTCTTTTCAATCCCACTGCAGTGAGAAGGCAACCAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTGAAGTACGTGCTGGCTCCTTGTGCTGTCTGTCTTGTAGCGCCCTCCCAGCCAGTGCTGTTCCCTGACCGCTTTGCTAAATCATTTTCAGACCATTGTGGCCGCCATGAGCAACCTGGTGCCCCCCGTGGAGCTGGCCAACCCCGAGAACCAGTT... | pathogenic | 315,164 |
Mutation at chromosome 20, position 58909193, within GNAS (GNAS complex locus): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['ACTH-independent_macronodular_adrenal_hyperplasia_1', 'Disorders_of_GNAS_Inactivation', 'GNAS-related_disorder', 'Inborn_genetic_diseases', 'McCune-Albright_syndrome', 'Pituitary_adenoma_3,_multiple_types', 'Progressive_osseous_heteroplasia', 'Pseudohypoparathyroidism', 'Pseudohypoparathyroidism_type_1B',... | TTCATCTATAAATCATATAAGCCTCTGTTAGGGTCTGCGCAATCTATCAACCCCAGCCCTGCCTTCCCATAGGAAATTCCTTTATTTTCAATTGCCACATACATAGATATTCCACGGTTTAATATACAAGCAAATGTGTATATTTTTTCAAGGAACAGAAAAAAACAGTCCATCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTT... | TTCATCTATAAATCATATAAGCCTCTGTTAGGGTCTGCGCAATCTATCAACCCCAGCCCTGCCTTCCCATAGGAAATTCCTTTATTTTCAATTGCCACATACATAGATATTCCACGGTTTAATATACAAGCAAATGTGTATATTTTTTCAAGGAACAGAAAAAAACAGTCCATCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTT... | pathogenic | 315,169 |
Gene GNAS (GNAS complex locus) variant at chromosome 20, position 58909198—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic | CTATAAATCATATAAGCCTCTGTTAGGGTCTGCGCAATCTATCAACCCCAGCCCTGCCTTCCCATAGGAAATTCCTTTATTTTCAATTGCCACATACATAGATATTCCACGGTTTAATATACAAGCAAATGTGTATATTTTTTCAAGGAACAGAAAAAAACAGTCCATCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATC... | CTATAAATCATATAAGCCTCTGTTAGGGTCTGCGCAATCTATCAACCCCAGCCCTGCCTTCCCATAGGAAATTCCTTTATTTTCAATTGCCACATACATAGATATTCCACGGTTTAATATACAAGCAAATGTGTATATTTTTTCAAGGAACAGAAAAAAACAGTCCATCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATC... | pathogenic | 315,170 |
Gene GNAS (GNAS complex locus) variant at chromosome 20, position 58910417—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACA... | GACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACA... | benign | 315,192 |
Located at chromosome 20 position 58910750, the variant affecting gene GNAS (GNAS complex locus)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Pseudohypoparathyroidism'] | CAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACA... | CAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACA... | pathogenic | 315,194 |
Does the genetic variant at chromosome 20, position 58910764, impacting gene GNAS (GNAS complex locus), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['GNAS-related_disorder', 'Pseudopseudohypoparathyroidism'] | GGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCAT... | GGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCAT... | pathogenic | 315,196 |
Variant at chromosome position 59301498, chromosome 20, gene EDN3 (endothelin 3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | ATCAAGCCAGGGGGATGTTGTAGCACTCTTTTGGACTGTCCTCAGAAACTGCTCTGGTCACTTCAGCTGCTTTCTAGTTTTCAGAAGCTGGTCGTTAAGGCTAGTAGAGGGCAGGACCCAATTCAACCCCATTTTTTAGAGATGAGGTCTCGCTATGTTGCCCAGGCTGGTCTTGAACTCCCAGGCTCAAGCAATCCATCCACCTTGGCCTCTCAAAGAGCTGGAATTACAGATGTGAAGCACTGCCCCTCCCCCAACCCCATCTGTTATGAAAGGAGGGTCCTTTGACCACAAGTGCCCTGAGAAGTCAGGAGGACTTC... | ATCAAGCCAGGGGGATGTTGTAGCACTCTTTTGGACTGTCCTCAGAAACTGCTCTGGTCACTTCAGCTGCTTTCTAGTTTTCAGAAGCTGGTCGTTAAGGCTAGTAGAGGGCAGGACCCAATTCAACCCCATTTTTTAGAGATGAGGTCTCGCTATGTTGCCCAGGCTGGTCTTGAACTCCCAGGCTCAAGCAATCCATCCACCTTGGCCTCTCAAAGAGCTGGAATTACAGATGTGAAGCACTGCCCCTCCCCCAACCCCATCTGTTATGAAAGGAGGGTCCTTTGACCACAAGTGCCCTGAGAAGTCAGGAGGACTTC... | benign | 315,237 |
Located at chromosome 20 position 59322388, the variant affecting gene EDN3 (endothelin 3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CTGTGCACATGGAAGAAATTCAGTCAGAAACCTCAGGTCTGGCCTCAGGCTGCGGGGTAGGCAGGTGATCTGATCAGGGCGAAGACCCAGACCAGCACGTAGGTTGCCCCACATGCCCTTGGCACAGGAAGAAAAGCCTCTGGAACAGGTGCTATGGTTGTCTTTAATTCTTTCTCGGCTTTCCATGGAATGAGGAGGAGGCCCAGATGGTACTTCCAGAGCCGAGGAGCAGAACCCGGCCCGGAGGAGCTAGGCCGGCCGTGGTTTGGTCTTGAAGAGAATGAAAGCCCACCCATGTTCACAGATCGCAGAGCCCCAGG... | CTGTGCACATGGAAGAAATTCAGTCAGAAACCTCAGGTCTGGCCTCAGGCTGCGGGGTAGGCAGGTGATCTGATCAGGGCGAAGACCCAGACCAGCACGTAGGTTGCCCCACATGCCCTTGGCACAGGAAGAAAAGCCTCTGGAACAGGTGCTATGGTTGTCTTTAATTCTTTCTCGGCTTTCCATGGAATGAGGAGGAGGCCCAGATGGTACTTCCAGAGCCGAGGAGCAGAACCCGGCCCGGAGGAGCTAGGCCGGCCGTGGTTTGGTCTTGAAGAGAATGAAAGCCCACCCATGTTCACAGATCGCAGAGCCCCAGG... | benign | 315,240 |
Considering the genetic mutation at chromosome 20, position 62291699, impacting OSBPL2 (oxysterol binding protein like 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCCAAGGTCAGGAGTTCGAAACCATCCTGGCCAACAAGGCAAAACTCCATCTCTACTAAAAATACAAGAGATTAGGCGGTCATGGTGGCGCCCGACTGTAATCCCAGCTTCTAGGGAGGCTGAGGCATGAGAATCGCTTGTACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTATACCACTGCACTCCAGCCAGGGCGACAGAGTGAGACCCTGCCTCACAAACAAACAACAACAACAAAAAACACAAACAAAAAACAAAGTACAAGTTCCTAATTTGTTATTA... | CCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCCAAGGTCAGGAGTTCGAAACCATCCTGGCCAACAAGGCAAAACTCCATCTCTACTAAAAATACAAGAGATTAGGCGGTCATGGTGGCGCCCGACTGTAATCCCAGCTTCTAGGGAGGCTGAGGCATGAGAATCGCTTGTACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTATACCACTGCACTCCAGCCAGGGCGACAGAGTGAGACCCTGCCTCACAAACAAACAACAACAACAAAAAACACAAACAAAAAACAAAGTACAAGTTCCTAATTTGTTATTA... | benign | 315,357 |
Gene mutation in LAMA5 (laminin subunit alpha 5) at chromosome 20, position 62320547—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GGCCTCCCGTGTGGCGTCCACTGCCCGGTTCAAAGCCTCTCGCAGGTCCATGAGGCCGGCCTCGTGCTGGGCCAGCCGGTCGCGGGTTTGTGTGGCCAGTGCCTGGTTCTCCTCCCAGAGGCTGCTCAGCTGCTCCTGCACCCGGGCCAGCACTAGCCGAGACCAGGGTGAGGGTGGTCACTCTGGAAGCCAGGCCCCTTCATGACCCCTGGTCTCCACTTGGTGCCCGCCAGATCCATCTGCCCCGTGATGCCCACCTGATGCCACTCCATGCTGACCTCCCCCTTGGAGCTCCCAGGTCCCTGCCTCTCCCCACCCCG... | GGCCTCCCGTGTGGCGTCCACTGCCCGGTTCAAAGCCTCTCGCAGGTCCATGAGGCCGGCCTCGTGCTGGGCCAGCCGGTCGCGGGTTTGTGTGGCCAGTGCCTGGTTCTCCTCCCAGAGGCTGCTCAGCTGCTCCTGCACCCGGGCCAGCACTAGCCGAGACCAGGGTGAGGGTGGTCACTCTGGAAGCCAGGCCCCTTCATGACCCCTGGTCTCCACTTGGTGCCCGCCAGATCCATCTGCCCCGTGATGCCCACCTGATGCCACTCCATGCTGACCTCCCCCTTGGAGCTCCCAGGTCCCTGCCTCTCCCCACCCCG... | benign | 315,475 |
Mutation at chromosome 20, position 62322651, within LAMA5 (laminin subunit alpha 5): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GCTGCTCCAGCACCTCCAGCTGCTGTGCCGTCTCATGGCGGGGGCCCAGGGGGCTCCGGAGCTGGCTCTGTGGGAGGCGAAAGGTGAAGGCCTGCACTGGCCCGGGTTGGGGAGGGAAGGCCAGGACGCTCAGTACCTGCAGGTCAGCGATGGAGGCGTTCAGCCTGTGCAGACGGGCCCAGGCCATGGAGCTGGCATTGATGCCACGCAGTTGCTCGTGAATGGCGGGGAGGAGGGCGCCGGCCCGTTCCAGGTCATCCAGGAGCAGGACCACACAGTGGTCACACACTGCAGGCGATGTGGGGTCACAGGTCAGTGTC... | GCTGCTCCAGCACCTCCAGCTGCTGTGCCGTCTCATGGCGGGGGCCCAGGGGGCTCCGGAGCTGGCTCTGTGGGAGGCGAAAGGTGAAGGCCTGCACTGGCCCGGGTTGGGGAGGGAAGGCCAGGACGCTCAGTACCTGCAGGTCAGCGATGGAGGCGTTCAGCCTGTGCAGACGGGCCCAGGCCATGGAGCTGGCATTGATGCCACGCAGTTGCTCGTGAATGGCGGGGAGGAGGGCGCCGGCCCGTTCCAGGTCATCCAGGAGCAGGACCACACAGTGGTCACACACTGCAGGCGATGTGGGGTCACAGGTCAGTGTC... | benign | 315,496 |
Does the genetic variant at chromosome 20, position 62367030, impacting gene LAMA5, appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GGACTTCTCACACGCCCAATCCGCGGCCAGGGCGGTCAGCAGACCCGCGGCTCTCAGATGAAGGAGGCATCCAAGGTCATACCCGTCCAGCTCACGTCTACCAGCTGATCTTTCTACATATCTGGCAGCCTCAGCGGGCACTCACTGCTCAGAGCTCGAGACTTTGGAAGCGAAGGGTTCACCTCTATTGCTAGACATGAGCTGGGCGAGGCCGGCTGGTTTCTCATCCAAGCTGGCTCTGAGGCATGGAGCACCACAGCCCACAGCTGCCACTGAAACTGTGGCCACTTCCCAGGCTCCTCGGGCCAAGCTCACAGTCT... | GGACTTCTCACACGCCCAATCCGCGGCCAGGGCGGTCAGCAGACCCGCGGCTCTCAGATGAAGGAGGCATCCAAGGTCATACCCGTCCAGCTCACGTCTACCAGCTGATCTTTCTACATATCTGGCAGCCTCAGCGGGCACTCACTGCTCAGAGCTCGAGACTTTGGAAGCGAAGGGTTCACCTCTATTGCTAGACATGAGCTGGGCGAGGCCGGCTGGTTTCTCATCCAAGCTGGCTCTGAGGCATGGAGCACCACAGCCCACAGCTGCCACTGAAACTGTGGCCACTTCCCAGGCTCCTCGGGCCAAGCTCACAGTCT... | benign | 315,631 |
Does the genetic variant at chromosome 20, position 62817577, impacting gene COL9A3 (collagen type IX alpha 3 chain), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TAGGAAGCTCTGTGCCAGGATGACTTGGACTCCTCAGGAGGGTGGGCCTTTTCAGCTCCTCCCACCTCGCCTGATGGAATTCGCACACACCCCTCCCAGCCCAGCCACCGCGCTCACCCAGCAGTGAAGGGAGAATCTCCCTCCACTCACTTCACCGCGGGAGAGATTAGAGCGACACTATTATTTTGAGACAGGGTCTCACTCTCTTGCCCAGGCAGGAGTGCAGTGGCGCCGTCTTGGCTCACTGCAGCCCCGACCTTACAGGCTCAAGCGATCCTCTTGCCTCAGCCTCCCGTGTAGCGTGGACTACAGGCGAGCAC... | TAGGAAGCTCTGTGCCAGGATGACTTGGACTCCTCAGGAGGGTGGGCCTTTTCAGCTCCTCCCACCTCGCCTGATGGAATTCGCACACACCCCTCCCAGCCCAGCCACCGCGCTCACCCAGCAGTGAAGGGAGAATCTCCCTCCACTCACTTCACCGCGGGAGAGATTAGAGCGACACTATTATTTTGAGACAGGGTCTCACTCTCTTGCCCAGGCAGGAGTGCAGTGGCGCCGTCTTGGCTCACTGCAGCCCCGACCTTACAGGCTCAAGCGATCCTCTTGCCTCAGCCTCCCGTGTAGCGTGGACTACAGGCGAGCAC... | benign | 315,690 |
Considering the genetic mutation at chromosome 20, position 62819308, impacting COL9A3 (collagen type IX alpha 3 chain): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGGCGCGGAGTCGCCAGCGCCTCGGGATGAGCCCCGTCCGGCCGCGTCCTCGATGGGTCCTCGCTGGCCCGGGTCGGCCGGCGCCGCCGCCTCCTCTGGGAGCACAAGGGGGCCTTTGTTCCCGCCGCCGGAGGGAGGCGGGGGACACACTGCGCGGGGGCGCCGGGCTCCGCCCGAGGCTTTGGGTCTCACCGAGGAGAGCGGCGGTCGTCGCAGGCCCCGGAGCCGCTCGGGACCCGGGAGGAGGGGACGCCGGGTCAGGCCCACGGGGGCACCTGCGCTCCTTAATGAGTTTTCTCCGTTTCAGAGAGTGGGACTCC... | GGGCGCGGAGTCGCCAGCGCCTCGGGATGAGCCCCGTCCGGCCGCGTCCTCGATGGGTCCTCGCTGGCCCGGGTCGGCCGGCGCCGCCGCCTCCTCTGGGAGCACAAGGGGGCCTTTGTTCCCGCCGCCGGAGGGAGGCGGGGGACACACTGCGCGGGGGCGCCGGGCTCCGCCCGAGGCTTTGGGTCTCACCGAGGAGAGCGGCGGTCGTCGCAGGCCCCGGAGCCGCTCGGGACCCGGGAGGAGGGGACGCCGGGTCAGGCCCACGGGGGCACCTGCGCTCCTTAATGAGTTTTCTCCGTTTCAGAGAGTGGGACTCC... | benign | 315,709 |
Evaluate the clinical significance of the mutation at chromosome 20, position 62824452 in gene COL9A3 (collagen type IX alpha 3 chain): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Connective_tissue_disorder'] | TTGTCACATGCCCTGTGGGTGGGCCAGCAGCTCCCAGCACTGGCCACTTGGGGGACAGGATGAAGGGTCTCCAAGTCCCCTGGTGGATGGGGAAGGTTGTGGTCCGTCAGAGAGTGGGTGGGTGGGTTGGGTGGCTGCAGGTGGCTGGGGAGGGCGGGAGAATGTCAGCTGTCTCTTTTTGTCTTAGGGACACCCAGGAGTCCTCCCTGAAGGCGCTACTGACCTTCAGGTAGGCACTTGAAGCCATTTGTTAAGGGTGCTGGGGGGTGCCTACCTTGGGGGGAGGGGTTCTGGCCTGGAGAGGGGCTTGTCCATACTGG... | TTGTCACATGCCCTGTGGGTGGGCCAGCAGCTCCCAGCACTGGCCACTTGGGGGACAGGATGAAGGGTCTCCAAGTCCCCTGGTGGATGGGGAAGGTTGTGGTCCGTCAGAGAGTGGGTGGGTGGGTTGGGTGGCTGCAGGTGGCTGGGGAGGGCGGGAGAATGTCAGCTGTCTCTTTTTGTCTTAGGGACACCCAGGAGTCCTCCCTGAAGGCGCTACTGACCTTCAGGTAGGCACTTGAAGCCATTTGTTAAGGGTGCTGGGGGGTGCCTACCTTGGGGGGAGGGGTTCTGGCCTGGAGAGGGGCTTGTCCATACTGG... | pathogenic | 315,738 |
Mutation found at chromosome 20 position 62830443, gene COL9A3 (collagen type IX alpha 3 chain): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TGTCCTGATTCCAAAACCAGTCCAGGGTGGACGAGGCAGGCCTGGCCTAAGGCCTCAGTTTCCCCACCGTAAAATGGGCCAGAACCAAACTTCCTTAGGGCACCATGATGTGCCTGGTGGACGAGGCCTCGGGCGTCAGCACTGCATCAGCACCGCCTCTGCCACCCACCCGCACCCCTCACCTGTGCGGTCACCGAGGCAGCACTGGTTGCCACACGGCCACCTTGGTCATGAAACCAGATAACTGCCAGGGTGTGGGGGCAGACACAGTTTTAGGTTGATGGGGAAGGAGGCTGCCCCCAGGGCAGGACTGTAGAGGG... | TGTCCTGATTCCAAAACCAGTCCAGGGTGGACGAGGCAGGCCTGGCCTAAGGCCTCAGTTTCCCCACCGTAAAATGGGCCAGAACCAAACTTCCTTAGGGCACCATGATGTGCCTGGTGGACGAGGCCTCGGGCGTCAGCACTGCATCAGCACCGCCTCTGCCACCCACCCGCACCCCTCACCTGTGCGGTCACCGAGGCAGCACTGGTTGCCACACGGCCACCTTGGTCATGAAACCAGATAACTGCCAGGGTGTGGGGGCAGACACAGTTTTAGGTTGATGGGGAAGGAGGCTGCCCCCAGGGCAGGACTGTAGAGGG... | benign | 315,790 |
Variant in gene COL9A3 (collagen type IX alpha 3 chain), located at chromosome 20 position 62837213: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic | CGGTTAGACTGTGTCAGTCTGTATTCTGCAGCTGTAACAGAACACCGCAGCTTGGGTAGTTTACAAGGGAAAGAGATCCATGTGGCTCCTAGTTCTGGAGGCTGGGAAGCCCAAGACCGAGGGGTGCATCCATCGAGGGCCTCCCCACTGCGTCATTCCATGGTGGAAGGCAGAAGGGCCAAGAGGAGGTGCCAGAGAGAGAAAGGGGCCCAACCCATCCTTTTCATGAGGAACCCACTGCGGAGACAACGGTGTTAGTTTACTCCGGAGAGCCGAGCTCTCAAACCTAATCACCTCTTAATAGCATTGCAGTGCAGTGG... | CGGTTAGACTGTGTCAGTCTGTATTCTGCAGCTGTAACAGAACACCGCAGCTTGGGTAGTTTACAAGGGAAAGAGATCCATGTGGCTCCTAGTTCTGGAGGCTGGGAAGCCCAAGACCGAGGGGTGCATCCATCGAGGGCCTCCCCACTGCGTCATTCCATGGTGGAAGGCAGAAGGGCCAAGAGGAGGTGCCAGAGAGAGAAAGGGGCCCAACCCATCCTTTTCATGAGGAACCCACTGCGGAGACAACGGTGTTAGTTTACTCCGGAGAGCCGAGCTCTCAAACCTAATCACCTCTTAATAGCATTGCAGTGCAGTGG... | pathogenic | 315,843 |
Chromosome 20, position 63355942, gene CHRNA4: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GTGGTCCTGGGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTGACCCTCGGGGGGGCTGCGGTCCTGGGAGGTCTGTGGTCCTGGGGGGCTGTGGTCCTGGCGGGGGGGCTGCGGTCCTAGGGGTGTTGTAGTCCTAGGGGGCTGTGGTCAGGCAAGAACTGTGATCCTTGTGGGGGCTGCAGTTCTGCAGGAGGCACTGTAGCCCTAGGGTGGGATGAAGTCCTGGGAGGACTGTGGTCCTGGCAGGGAATGTGGTCCTGGGGGCCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGGGCTGTGGTCCTGGG... | GTGGTCCTGGGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTGACCCTCGGGGGGGCTGCGGTCCTGGGAGGTCTGTGGTCCTGGGGGGCTGTGGTCCTGGCGGGGGGGCTGCGGTCCTAGGGGTGTTGTAGTCCTAGGGGGCTGTGGTCAGGCAAGAACTGTGATCCTTGTGGGGGCTGCAGTTCTGCAGGAGGCACTGTAGCCCTAGGGTGGGATGAAGTCCTGGGAGGACTGTGGTCCTGGCAGGGAATGTGGTCCTGGGGGCCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGGGCTGTGGTCCTGGG... | benign | 315,997 |
Variant in gene CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit), located at chromosome 20 position 63359703: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CTGGTGGGACGGGCAGAGTGGGCCAGACACAAGGCAGCCCCTTCCACATACACGTGGTCCTCAGCCTTAGGCCAGCACCCAGGAGCATCAGGCAGCCCCTTCCGTGCACACGTGGCCCTCGGCCTTGGGCACCCAGGAGCGTCAGCACCCACGTGTGCATGTTCGTGTAAGTCCTTAGTCGGCTGCAGGGTGGAGAGAGGGGTGGGCAGCTCTGGGAGTCTTGGTTCTGGGTGTGCTCCAGGCCTCAATGTCTCCTGGGCAAACTGGGGACTCTGTGGTGGCGTAGGGAGCCATGGATTGAGCCCTGAGAAGCTCAGGTA... | CTGGTGGGACGGGCAGAGTGGGCCAGACACAAGGCAGCCCCTTCCACATACACGTGGTCCTCAGCCTTAGGCCAGCACCCAGGAGCATCAGGCAGCCCCTTCCGTGCACACGTGGCCCTCGGCCTTGGGCACCCAGGAGCGTCAGCACCCACGTGTGCATGTTCGTGTAAGTCCTTAGTCGGCTGCAGGGTGGAGAGAGGGGTGGGCAGCTCTGGGAGTCTTGGTTCTGGGTGTGCTCCAGGCCTCAATGTCTCCTGGGCAAACTGGGGACTCTGTGGTGGCGTAGGGAGCCATGGATTGAGCCCTGAGAAGCTCAGGTA... | benign | 316,018 |
A genetic variant on chromosome 20, position 63406659, affects the gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Inborn_genetic_diseases', 'Seizures,_benign_familial_neonatal,_1'] | GCTATGGATTCCCTGCCCCATGACGGGACGGCAAAGGGACATGGACCCCAGGCTCGAGCCAGCCCAAGGGAGACAGCAAGGGCACCGCCGTGAAACGCTGCCCCCAAAACACGTAGCGATGCCCACACCAGAAGGGATGCTTCATGCCACCGCAGGGCCCGAGGCCACACACGCTGCCTTTGGGAACAGAGCAGACAGGCAGTGGGAGCCTGGACAGTGGCTTCCGAGGCCTCCCAGTTGGCACCTTTTTGGGACAGGCTCCAGCACAGGGAGGGGTGAGGAGACAGCCCAGCGGAGGCACCTCAATGGCGACAGGGCCT... | GCTATGGATTCCCTGCCCCATGACGGGACGGCAAAGGGACATGGACCCCAGGCTCGAGCCAGCCCAAGGGAGACAGCAAGGGCACCGCCGTGAAACGCTGCCCCCAAAACACGTAGCGATGCCCACACCAGAAGGGATGCTTCATGCCACCGCAGGGCCCGAGGCCACACACGCTGCCTTTGGGAACAGAGCAGACAGGCAGTGGGAGCCTGGACAGTGGCTTCCGAGGCCTCCCAGTTGGCACCTTTTTGGGACAGGCTCCAGCACAGGGAGGGGTGAGGAGACAGCCCAGCGGAGGCACCTCAATGGCGACAGGGCCT... | pathogenic | 316,046 |
Does the variant impacting KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on chromosome 20, position 63406665, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_7', 'Seizures,_benign_familial_neonatal,_1'] | GATTCCCTGCCCCATGACGGGACGGCAAAGGGACATGGACCCCAGGCTCGAGCCAGCCCAAGGGAGACAGCAAGGGCACCGCCGTGAAACGCTGCCCCCAAAACACGTAGCGATGCCCACACCAGAAGGGATGCTTCATGCCACCGCAGGGCCCGAGGCCACACACGCTGCCTTTGGGAACAGAGCAGACAGGCAGTGGGAGCCTGGACAGTGGCTTCCGAGGCCTCCCAGTTGGCACCTTTTTGGGACAGGCTCCAGCACAGGGAGGGGTGAGGAGACAGCCCAGCGGAGGCACCTCAATGGCGACAGGGCCTGGGAGT... | GATTCCCTGCCCCATGACGGGACGGCAAAGGGACATGGACCCCAGGCTCGAGCCAGCCCAAGGGAGACAGCAAGGGCACCGCCGTGAAACGCTGCCCCCAAAACACGTAGCGATGCCCACACCAGAAGGGATGCTTCATGCCACCGCAGGGCCCGAGGCCACACACGCTGCCTTTGGGAACAGAGCAGACAGGCAGTGGGAGCCTGGACAGTGGCTTCCGAGGCCTCCCAGTTGGCACCTTTTTGGGACAGGCTCCAGCACAGGGAGGGGTGAGGAGACAGCCCAGCGGAGGCACCTCAATGGCGACAGGGCCTGGGAGT... | pathogenic | 316,047 |
Gene mutation in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) at chromosome 20, position 63406947—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Seizures,_benign_familial_neonatal,_1'] | CCAGCGGAGGCACCTCAATGGCGACAGGGCCTGGGAGTGCCCTGGCCGGGCTGGGGGTAGGCAGAGAGGCCAGGGCAGCAGCTCCCCACAATGGACGCCAGACATGGCTCCCCGAACACCCTGAGCGCCAGGACCCCCACCAGCCAGGGGCGTACGACCCTCAAATGCTGCTTTCAAAGTCCTCTCCCTCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCA... | CCAGCGGAGGCACCTCAATGGCGACAGGGCCTGGGAGTGCCCTGGCCGGGCTGGGGGTAGGCAGAGAGGCCAGGGCAGCAGCTCCCCACAATGGACGCCAGACATGGCTCCCCGAACACCCTGAGCGCCAGGACCCCCACCAGCCAGGGGCGTACGACCCTCAAATGCTGCTTTCAAAGTCCTCTCCCTCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCA... | pathogenic | 316,074 |
The mutation in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) at chromosome 20, position 63406986—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | CCCTGGCCGGGCTGGGGGTAGGCAGAGAGGCCAGGGCAGCAGCTCCCCACAATGGACGCCAGACATGGCTCCCCGAACACCCTGAGCGCCAGGACCCCCACCAGCCAGGGGCGTACGACCCTCAAATGCTGCTTTCAAAGTCCTCTCCCTCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCC... | CCCTGGCCGGGCTGGGGGTAGGCAGAGAGGCCAGGGCAGCAGCTCCCCACAATGGACGCCAGACATGGCTCCCCGAACACCCTGAGCGCCAGGACCCCCACCAGCCAGGGGCGTACGACCCTCAAATGCTGCTTTCAAAGTCCTCTCCCTCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCC... | pathogenic | 316,075 |
Considering the variant on chromosome 20, location 63407135, involving gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_7', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Seizures,_benign_familial_neonatal,_1'] | TCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGAC... | TCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGAC... | pathogenic | 316,090 |
Clinical significance of chromosome 20, position 63407135, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases'] | TCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGAC... | TCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGAC... | pathogenic | 316,091 |
Variant at chromosome position 63407136, chromosome 20, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Epileptic_encephalopathy', 'KCNQ2-related_disorder'] | CAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACG... | CAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACG... | pathogenic | 316,092 |
Mutation found at chromosome 20 position 63407307, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | GGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGC... | GGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGC... | pathogenic | 316,106 |
Does the variant impacting KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on chromosome 20, position 63408476, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Inborn_genetic_diseases'] | CCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTG... | CCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTG... | pathogenic | 316,121 |
A genetic alteration at chromosome 20, position 63413512, in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | GGAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAG... | GGAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAG... | pathogenic | 316,136 |
For chromosome 20, position 63413592, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGG... | CTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGG... | benign | 316,150 |
Is the genetic variant on chromosome 20, position 63414195, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCT... | AGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCT... | benign | 316,159 |
Does the variant on chromosome 20 at location 63415143 affecting gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTC... | TGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTC... | benign | 316,179 |
Determine if the mutation at chromosome 20, position 63415143 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTC... | TGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTC... | benign | 316,180 |
Variant at chromosome position 63415143, chromosome 20, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTC... | TGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTC... | benign | 316,181 |
Is chromosome 20, position 63419645, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | ATCAGATTCCCACCTGCGGCCCCGGAGGGGAACGGGTCAAATACCCAGGCGGCCACACAGACGTGCGGGCCAGGAAGGGTCAGGCCCCACAGTCCGCAGGGAGTTGCAGGAAGGGAGTGGCGTGGATTCCACAGGCCCCAGGAGAGAAGACCCAGCCCCGACGTCTGCTTCCCATTTTTCAGGGGGGACCCCCCGCTGACCACGACAAGGAGCCACAGCCCCGCCAGCGGCAGACACACCCTGCTGGACCCGATGCCCAGCACAGCCCCAGGGGCCGCCGGGACGCAGCCCACGTGTACTGCCCCAGACAGAGCCGGCGG... | ATCAGATTCCCACCTGCGGCCCCGGAGGGGAACGGGTCAAATACCCAGGCGGCCACACAGACGTGCGGGCCAGGAAGGGTCAGGCCCCACAGTCCGCAGGGAGTTGCAGGAAGGGAGTGGCGTGGATTCCACAGGCCCCAGGAGAGAAGACCCAGCCCCGACGTCTGCTTCCCATTTTTCAGGGGGGACCCCCCGCTGACCACGACAAGGAGCCACAGCCCCGCCAGCGGCAGACACACCCTGCTGGACCCGATGCCCAGCACAGCCCCAGGGGCCGCCGGGACGCAGCCCACGTGTACTGCCCCAGACAGAGCCGGCGG... | pathogenic | 316,187 |
Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) variant at chromosome position 63419885 on chromosome 20: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CTGCTGGACCCGATGCCCAGCACAGCCCCAGGGGCCGCCGGGACGCAGCCCACGTGTACTGCCCCAGACAGAGCCGGCGGGAAGGAGCCTGCCCTGGCCTCGGCGCGGCCCTGCTGTCCCGGGTCTCGGGCTCCGCTCCCACCTCAGATCTGCGAGGGAGGCTCTGCCAGGAAGAGGAGGGTGGCGCGACCTGGACATGTCCTTCCCTCCCCTGGACCTCCACCATGACCCAAACTCTGCACCCTCCAAGCACAGCTGGTGAGGCTCCATGCTGCAGACACCCGACCCCGCCAGCCTGCCTCAGCTGCCAGGAGCACGCG... | CTGCTGGACCCGATGCCCAGCACAGCCCCAGGGGCCGCCGGGACGCAGCCCACGTGTACTGCCCCAGACAGAGCCGGCGGGAAGGAGCCTGCCCTGGCCTCGGCGCGGCCCTGCTGTCCCGGGTCTCGGGCTCCGCTCCCACCTCAGATCTGCGAGGGAGGCTCTGCCAGGAAGAGGAGGGTGGCGCGACCTGGACATGTCCTTCCCTCCCCTGGACCTCCACCATGACCCAAACTCTGCACCCTCCAAGCACAGCTGGTGAGGCTCCATGCTGCAGACACCCGACCCCGCCAGCCTGCCTCAGCTGCCAGGAGCACGCG... | benign | 316,191 |
The chromosome 20, position 63424194 genetic variant in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Inborn_genetic_diseases', 'Seizures,_benign_familial_neonatal,_1'] | AGCCCAGGTCAGGCAGCAGAGGGGCGCCAGGAGCCGAGCTCCCCATCAAGCTTCGCAGAGCAGGCCCCTCACCCAGCAGCCCAGGGACGTGGCAGGCAATGATTGCGGAACAACTTCCTAAGCACGACCCTACACTGGACAGGCTGCGGCTGCCCCAGGCCAGGGAACAGAGATGCCACCCCGTGACCTGCCAGGTGAGCACCCCAGGATGGGCGGGGAGGGTCTTCAAGGGCAGAGACTGCTCCTCACTCCCACCGCACCCCAGGCACCTTCCAGAAGCCCCAGACCCAGCAGCCCCACGTCCCCCACCACAGGCGTCC... | AGCCCAGGTCAGGCAGCAGAGGGGCGCCAGGAGCCGAGCTCCCCATCAAGCTTCGCAGAGCAGGCCCCTCACCCAGCAGCCCAGGGACGTGGCAGGCAATGATTGCGGAACAACTTCCTAAGCACGACCCTACACTGGACAGGCTGCGGCTGCCCCAGGCCAGGGAACAGAGATGCCACCCCGTGACCTGCCAGGTGAGCACCCCAGGATGGGCGGGGAGGGTCTTCAAGGGCAGAGACTGCTCCTCACTCCCACCGCACCCCAGGCACCTTCCAGAAGCCCCAGACCCAGCAGCCCCACGTCCCCCACCACAGGCGTCC... | pathogenic | 316,196 |
Is the genetic change at chromosome 20, position 63424194, within gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_7', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Seizures,_benign_familial_neonatal,_1'] | AGCCCAGGTCAGGCAGCAGAGGGGCGCCAGGAGCCGAGCTCCCCATCAAGCTTCGCAGAGCAGGCCCCTCACCCAGCAGCCCAGGGACGTGGCAGGCAATGATTGCGGAACAACTTCCTAAGCACGACCCTACACTGGACAGGCTGCGGCTGCCCCAGGCCAGGGAACAGAGATGCCACCCCGTGACCTGCCAGGTGAGCACCCCAGGATGGGCGGGGAGGGTCTTCAAGGGCAGAGACTGCTCCTCACTCCCACCGCACCCCAGGCACCTTCCAGAAGCCCCAGACCCAGCAGCCCCACGTCCCCCACCACAGGCGTCC... | AGCCCAGGTCAGGCAGCAGAGGGGCGCCAGGAGCCGAGCTCCCCATCAAGCTTCGCAGAGCAGGCCCCTCACCCAGCAGCCCAGGGACGTGGCAGGCAATGATTGCGGAACAACTTCCTAAGCACGACCCTACACTGGACAGGCTGCGGCTGCCCCAGGCCAGGGAACAGAGATGCCACCCCGTGACCTGCCAGGTGAGCACCCCAGGATGGGCGGGGAGGGTCTTCAAGGGCAGAGACTGCTCCTCACTCCCACCGCACCCCAGGCACCTTCCAGAAGCCCCAGACCCAGCAGCCCCACGTCCCCCACCACAGGCGTCC... | pathogenic | 316,197 |
Variant chromosome 20, position 63424216, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? Disease(s)? | benign | GGCGCCAGGAGCCGAGCTCCCCATCAAGCTTCGCAGAGCAGGCCCCTCACCCAGCAGCCCAGGGACGTGGCAGGCAATGATTGCGGAACAACTTCCTAAGCACGACCCTACACTGGACAGGCTGCGGCTGCCCCAGGCCAGGGAACAGAGATGCCACCCCGTGACCTGCCAGGTGAGCACCCCAGGATGGGCGGGGAGGGTCTTCAAGGGCAGAGACTGCTCCTCACTCCCACCGCACCCCAGGCACCTTCCAGAAGCCCCAGACCCAGCAGCCCCACGTCCCCCACCACAGGCGTCCCAGGAGGAGGGCCGGGGCGGGT... | GGCGCCAGGAGCCGAGCTCCCCATCAAGCTTCGCAGAGCAGGCCCCTCACCCAGCAGCCCAGGGACGTGGCAGGCAATGATTGCGGAACAACTTCCTAAGCACGACCCTACACTGGACAGGCTGCGGCTGCCCCAGGCCAGGGAACAGAGATGCCACCCCGTGACCTGCCAGGTGAGCACCCCAGGATGGGCGGGGAGGGTCTTCAAGGGCAGAGACTGCTCCTCACTCCCACCGCACCCCAGGCACCTTCCAGAAGCCCCAGACCCAGCAGCCCCACGTCCCCCACCACAGGCGTCCCAGGAGGAGGGCCGGGGCGGGT... | benign | 316,198 |
Clinical impact (benign or pathogenic) of the variant at chromosome 20, location 63428390, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): what disease(s) if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_7', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Seizures,_benign_familial_neonatal,_1'] | TCAGCATGAGGCTGTCTGGCCACACCTGTGGGCTTCTCTCCAAAGCAGGCTTTGCCAACAGTGAATCTCCTAATTTAAGACCCTTTGCAAGCTGGACAGGCTGAGCACCTCCCAAACCTTCAAGTTCTGGTTTCTTACAGCAGTTCTGCCCTGAATGCCTTTTTTTTTTTTTTTAATAGTCTTTTGGCGGATCGGCCAGGTGCTGCTCTGAATCTCCCTGTTTCCTCTCATACTTTACTATGAGCAGCAGAAATAAATTAGGCTGCACCTTCCACACTTTGCTTGGAAATCTTCTTGGCTAAATATCCCAGTTCATCACT... | TCAGCATGAGGCTGTCTGGCCACACCTGTGGGCTTCTCTCCAAAGCAGGCTTTGCCAACAGTGAATCTCCTAATTTAAGACCCTTTGCAAGCTGGACAGGCTGAGCACCTCCCAAACCTTCAAGTTCTGGTTTCTTACAGCAGTTCTGCCCTGAATGCCTTTTTTTTTTTTTTTAATAGTCTTTTGGCGGATCGGCCAGGTGCTGCTCTGAATCTCCCTGTTTCCTCTCATACTTTACTATGAGCAGCAGAAATAAATTAGGCTGCACCTTCCACACTTTGCTTGGAAATCTTCTTGGCTAAATATCCCAGTTCATCACT... | pathogenic | 316,201 |
Clinical significance of chromosome 20, position 63428423, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_7', 'Seizures,_benign_familial_neonatal,_1'] | TTCTCTCCAAAGCAGGCTTTGCCAACAGTGAATCTCCTAATTTAAGACCCTTTGCAAGCTGGACAGGCTGAGCACCTCCCAAACCTTCAAGTTCTGGTTTCTTACAGCAGTTCTGCCCTGAATGCCTTTTTTTTTTTTTTTAATAGTCTTTTGGCGGATCGGCCAGGTGCTGCTCTGAATCTCCCTGTTTCCTCTCATACTTTACTATGAGCAGCAGAAATAAATTAGGCTGCACCTTCCACACTTTGCTTGGAAATCTTCTTGGCTAAATATCCCAGTTCATCACTTAAAAATTCTGCCTCTGCCCAACAGTAGCGCAC... | TTCTCTCCAAAGCAGGCTTTGCCAACAGTGAATCTCCTAATTTAAGACCCTTTGCAAGCTGGACAGGCTGAGCACCTCCCAAACCTTCAAGTTCTGGTTTCTTACAGCAGTTCTGCCCTGAATGCCTTTTTTTTTTTTTTTAATAGTCTTTTGGCGGATCGGCCAGGTGCTGCTCTGAATCTCCCTGTTTCCTCTCATACTTTACTATGAGCAGCAGAAATAAATTAGGCTGCACCTTCCACACTTTGCTTGGAAATCTTCTTGGCTAAATATCCCAGTTCATCACTTAAAAATTCTGCCTCTGCCCAACAGTAGCGCAC... | pathogenic | 316,204 |
Is the variant located on chromosome 20 at position 63428423, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_1', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | TTCTCTCCAAAGCAGGCTTTGCCAACAGTGAATCTCCTAATTTAAGACCCTTTGCAAGCTGGACAGGCTGAGCACCTCCCAAACCTTCAAGTTCTGGTTTCTTACAGCAGTTCTGCCCTGAATGCCTTTTTTTTTTTTTTTAATAGTCTTTTGGCGGATCGGCCAGGTGCTGCTCTGAATCTCCCTGTTTCCTCTCATACTTTACTATGAGCAGCAGAAATAAATTAGGCTGCACCTTCCACACTTTGCTTGGAAATCTTCTTGGCTAAATATCCCAGTTCATCACTTAAAAATTCTGCCTCTGCCCAACAGTAGCGCAC... | TTCTCTCCAAAGCAGGCTTTGCCAACAGTGAATCTCCTAATTTAAGACCCTTTGCAAGCTGGACAGGCTGAGCACCTCCCAAACCTTCAAGTTCTGGTTTCTTACAGCAGTTCTGCCCTGAATGCCTTTTTTTTTTTTTTTAATAGTCTTTTGGCGGATCGGCCAGGTGCTGCTCTGAATCTCCCTGTTTCCTCTCATACTTTACTATGAGCAGCAGAAATAAATTAGGCTGCACCTTCCACACTTTGCTTGGAAATCTTCTTGGCTAAATATCCCAGTTCATCACTTAAAAATTCTGCCTCTGCCCAACAGTAGCGCAC... | pathogenic | 316,206 |
Does the chromosome 20 mutation at position 63433809 within gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | CTGTCCACCCTGGCCAACTCAGGATCCTCAAGAAGAATCCTGGGCCCCACCCCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGC... | CTGTCCACCCTGGCCAACTCAGGATCCTCAAGAAGAATCCTGGGCCCCACCCCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGC... | pathogenic | 316,223 |
Variant on chromosome 20, at position 63433914, affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAA... | CCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAA... | benign | 316,236 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 63439609, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Benign_Rolandic_epilepsy', 'Complex_neurodevelopmental_disorder', 'Developmental_and_epileptic_encephalopathy,_7', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'KCNQ2-related_disorder', 'Seizure', 'Seizures,_benign_familial_neonatal,_1', 'likely other unspecified diseases'] | GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGG... | GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGG... | pathogenic | 316,261 |
Variant in KCNQ2 (potassium voltage-gated channel subfamily Q member 2), chromosome 20, position 63439644—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Neurodevelopmental_disorder'] | CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGAT... | CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGAT... | pathogenic | 316,270 |
Does the genetic variant at chromosome 20, position 63439668, impacting gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | GCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTA... | GCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTA... | pathogenic | 316,275 |
A mutation at chromosome position 63445312 on chromosome 20 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | ATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTAC... | ATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTAC... | pathogenic | 316,365 |
Is the genetic change at chromosome 20, position 63446799, within gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Seizures,_benign_familial_neonatal,_1'] | GGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTT... | GGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTT... | pathogenic | 316,381 |
Does the variant on chromosome 20 at location 63446801 affecting gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | CTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAA... | CTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAA... | pathogenic | 316,382 |
The genetic variant at chromosome 20, position 63446828, affecting gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | TTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAG... | TTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAG... | pathogenic | 316,385 |
Mutation at chromosome 20, position 63446836, within KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic | GGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAG... | GGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAG... | pathogenic | 316,387 |
Variant in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), located at chromosome 20 position 63472259: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Seizures,_benign_familial_neonatal,_1'] | GCAAAGGAGCTGAGGAGAGCCTGGGAGCTCAGGGAGGTTCAGGGAGCTCCGTGCCCACAGCAAAGGAGCTGAGGAGAGGCCTAGTGCAGGCTGGAAGGCGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGG... | GCAAAGGAGCTGAGGAGAGCCTGGGAGCTCAGGGAGGTTCAGGGAGCTCCGTGCCCACAGCAAAGGAGCTGAGGAGAGGCCTAGTGCAGGCTGGAAGGCGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGG... | pathogenic | 316,396 |
Chromosome 20, position 63472259, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | GCAAAGGAGCTGAGGAGAGCCTGGGAGCTCAGGGAGGTTCAGGGAGCTCCGTGCCCACAGCAAAGGAGCTGAGGAGAGGCCTAGTGCAGGCTGGAAGGCGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGG... | GCAAAGGAGCTGAGGAGAGCCTGGGAGCTCAGGGAGGTTCAGGGAGCTCCGTGCCCACAGCAAAGGAGCTGAGGAGAGGCCTAGTGCAGGCTGGAAGGCGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGG... | pathogenic | 316,397 |
Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) variant at chromosome position 63472319 on chromosome 20: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'KCNQ2-related_disorder'] | CAAAGGAGCTGAGGAGAGGCCTAGTGCAGGCTGGAAGGCGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCT... | CAAAGGAGCTGAGGAGAGGCCTAGTGCAGGCTGGAAGGCGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCT... | pathogenic | 316,399 |
Determine if the mutation at chromosome 20, position 63472319 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | CAAAGGAGCTGAGGAGAGGCCTAGTGCAGGCTGGAAGGCGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCT... | CAAAGGAGCTGAGGAGAGGCCTAGTGCAGGCTGGAAGGCGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCT... | pathogenic | 316,400 |
Determine whether the variant at chromosome 20, position 63472357, in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Inborn_genetic_diseases'] | CGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAG... | CGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAG... | pathogenic | 316,401 |
Determine if the mutation at chromosome 20, position 63472361 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | GCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGC... | GCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGC... | pathogenic | 316,402 |
Determine if the mutation at chromosome 20, position 63488427 in gene EEF1A2 (eukaryotic translation elongation factor 1 alpha 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | ATCCCAGGTGGGCCCTAAGTGCAGTCACTCGCATCCTCATGAGAAGGAGATTTGACACAGAGGAGGAGAGAGCAGTGTGGCGACAGAGGCAGAGACTGGAGTGACGCAGCCACAAGCCAAGGGGTGTCGGCAGCCACGGCAAGGGGTGAAGCAGGGAACCGACTCTCCTGGGGCCTCCAGAGGAGCAGAGCCCCATCGACACCTTGATTTCGGCAGGGAGGCTGGTTTTGGCCTGACCCCAGGAGGCCTCGCCATTTGCCGTCATTGGTCGCAGCATCCCTAAGAGACTAAGGCGCTATGAGGCCCTGCGGTCAGCCTGC... | ATCCCAGGTGGGCCCTAAGTGCAGTCACTCGCATCCTCATGAGAAGGAGATTTGACACAGAGGAGGAGAGAGCAGTGTGGCGACAGAGGCAGAGACTGGAGTGACGCAGCCACAAGCCAAGGGGTGTCGGCAGCCACGGCAAGGGGTGAAGCAGGGAACCGACTCTCCTGGGGCCTCCAGAGGAGCAGAGCCCCATCGACACCTTGATTTCGGCAGGGAGGCTGGTTTTGGCCTGACCCCAGGAGGCCTCGCCATTTGCCGTCATTGGTCGCAGCATCCCTAAGAGACTAAGGCGCTATGAGGCCCTGCGGTCAGCCTGC... | benign | 316,425 |
Clinical impact (benign or pathogenic) of the variant at chromosome 20, location 63488434, gene EEF1A2 (eukaryotic translation elongation factor 1 alpha 2): what disease(s) if pathogenic? | benign | GTGGGCCCTAAGTGCAGTCACTCGCATCCTCATGAGAAGGAGATTTGACACAGAGGAGGAGAGAGCAGTGTGGCGACAGAGGCAGAGACTGGAGTGACGCAGCCACAAGCCAAGGGGTGTCGGCAGCCACGGCAAGGGGTGAAGCAGGGAACCGACTCTCCTGGGGCCTCCAGAGGAGCAGAGCCCCATCGACACCTTGATTTCGGCAGGGAGGCTGGTTTTGGCCTGACCCCAGGAGGCCTCGCCATTTGCCGTCATTGGTCGCAGCATCCCTAAGAGACTAAGGCGCTATGAGGCCCTGCGGTCAGCCTGCCTGCTCT... | GTGGGCCCTAAGTGCAGTCACTCGCATCCTCATGAGAAGGAGATTTGACACAGAGGAGGAGAGAGCAGTGTGGCGACAGAGGCAGAGACTGGAGTGACGCAGCCACAAGCCAAGGGGTGTCGGCAGCCACGGCAAGGGGTGAAGCAGGGAACCGACTCTCCTGGGGCCTCCAGAGGAGCAGAGCCCCATCGACACCTTGATTTCGGCAGGGAGGCTGGTTTTGGCCTGACCCCAGGAGGCCTCGCCATTTGCCGTCATTGGTCGCAGCATCCCTAAGAGACTAAGGCGCTATGAGGCCCTGCGGTCAGCCTGCCTGCTCT... | benign | 316,426 |
Does the variant on chromosome 20 at location 63662607 affecting gene RTEL1 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3'] | AGATTAACAGCATCTTAGGGCAAAGCAATTGTTCAGGGTACAGGTCAAAATGGAGTGTGTTATGTCTTCCCTTTCTACATAGACACAGTAACAGTCTGATCTCTCTTTTCCCTACAGTCCTTGAGGGTGACAGACTTAGGAGTGCCTTGGGGGCCTCTCTGAGGAGCAGCTGATATTCACGGGTCAGGAGGAAGCATTTCCATTAGAGGGGCAGCCGGTGGCCAGCCTCACTTGGAAGGTCTTTGAACCTCGGGGGTGCAGGGAGGTGGCAGTGGTGCAGGTTGCCTTCTCCTGGGTTCCTTGAGGTGCCCTCTTGTACC... | AGATTAACAGCATCTTAGGGCAAAGCAATTGTTCAGGGTACAGGTCAAAATGGAGTGTGTTATGTCTTCCCTTTCTACATAGACACAGTAACAGTCTGATCTCTCTTTTCCCTACAGTCCTTGAGGGTGACAGACTTAGGAGTGCCTTGGGGGCCTCTCTGAGGAGCAGCTGATATTCACGGGTCAGGAGGAAGCATTTCCATTAGAGGGGCAGCCGGTGGCCAGCCTCACTTGGAAGGTCTTTGAACCTCGGGGGTGCAGGGAGGTGGCAGTGGTGCAGGTTGCCTTCTCCTGGGTTCCTTGAGGTGCCCTCTTGTACC... | pathogenic | 316,569 |
Mutation found at chromosome 20 position 63674070, gene RTEL1: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3', 'RTEL1-related_disorder'] | TACAGGCACACACCACCACCCCCTGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCTGGGAGTTGGGTTTGTAAATCTCCCTGAGTGGGGCTGGGGCAGGGAACTGCTGGGTCTGGGTCTTCCTGGCTCCTCTGGTCTGTGGCTTCCTGACTGCGGTGGCCGGGGGCTCCCAGGGCATCGTGGCCGTCTGTCTTGCTGAGCGTGGCACGTGCCTTTC... | TACAGGCACACACCACCACCCCCTGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCTGGGAGTTGGGTTTGTAAATCTCCCTGAGTGGGGCTGGGGCAGGGAACTGCTGGGTCTGGGTCTTCCTGGCTCCTCTGGTCTGTGGCTTCCTGACTGCGGTGGCCGGGGGCTCCCAGGGCATCGTGGCCGTCTGTCTTGCTGAGCGTGGCACGTGCCTTTC... | pathogenic | 316,624 |
A genetic variant on chromosome 20, position 63678184, affects the gene RTEL1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Interstitial_lung_disease_2'] | ACGGCTCACTGCAGCCTCCACCTCCTGCAGCCTCCACCTCTTGGGCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAGCTCCTGGGACTACAGGCGTGTGCCACTGTGCTTGGCAGGGTCCATTCTTTTCCTCACACTTTATTTATTGAAGAGCCCAGGCCGTTTACCCTGCAGAGTCGGAATCTGTACAGGAGGGGCAGCCACACGAGTTCCCCGGTTTACTCTGAACTTAGGTGGCTTGAGGGCCCCAGTTAGACTGCGGCCACCGTTTGCCGGGCTCCAGATGGGACGTCCTTTCTATCAGAAGGCTCACAGTATCTC... | ACGGCTCACTGCAGCCTCCACCTCCTGCAGCCTCCACCTCTTGGGCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAGCTCCTGGGACTACAGGCGTGTGCCACTGTGCTTGGCAGGGTCCATTCTTTTCCTCACACTTTATTTATTGAAGAGCCCAGGCCGTTTACCCTGCAGAGTCGGAATCTGTACAGGAGGGGCAGCCACACGAGTTCCCCGGTTTACTCTGAACTTAGGTGGCTTGAGGGCCCCAGTTAGACTGCGGCCACCGTTTGCCGGGCTCCAGATGGGACGTCCTTTCTATCAGAAGGCTCACAGTATCTC... | pathogenic | 316,631 |
A genetic variant on chromosome 20, position 63678291, affects the gene RTEL1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3'] | CTTGGCAGGGTCCATTCTTTTCCTCACACTTTATTTATTGAAGAGCCCAGGCCGTTTACCCTGCAGAGTCGGAATCTGTACAGGAGGGGCAGCCACACGAGTTCCCCGGTTTACTCTGAACTTAGGTGGCTTGAGGGCCCCAGTTAGACTGCGGCCACCGTTTGCCGGGCTCCAGATGGGACGTCCTTTCTATCAGAAGGCTCACAGTATCTCCTTTCCCGTTTCTTCCCATGTGAACATTGTTGCTGCTGAACACCTGAATATGTTAATCACTGGGGGCTTGCAAGATGGCAGTGTGCTAATTCCATCATCTAGTCAGT... | CTTGGCAGGGTCCATTCTTTTCCTCACACTTTATTTATTGAAGAGCCCAGGCCGTTTACCCTGCAGAGTCGGAATCTGTACAGGAGGGGCAGCCACACGAGTTCCCCGGTTTACTCTGAACTTAGGTGGCTTGAGGGCCCCAGTTAGACTGCGGCCACCGTTTGCCGGGCTCCAGATGGGACGTCCTTTCTATCAGAAGGCTCACAGTATCTCCTTTCCCGTTTCTTCCCATGTGAACATTGTTGCTGCTGAACACCTGAATATGTTAATCACTGGGGGCTTGCAAGATGGCAGTGTGCTAATTCCATCATCTAGTCAGT... | pathogenic | 316,636 |
Does the genetic variant at chromosome 20, position 63685513, impacting gene RTEL1, appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CTCTCCTTCTGTGCGTACCCAGGCACGTGCACATGCATGCAGAGTACGCACACACGCACGCACGCCTGCACAAATCCACGCATGTTGCCAAGTCTCTGTGTTCCAGCCGTGGTGTCTGCCCCCCGGTGTTCTCTAGTTCGGCTTCTCCGCATTTCTGTGAATGATTCCGGCTTCTTGGTGTTCCCAGCAGAACTCCCTCAAGTCTGCGGCGGGGCTCTGACGGCGGTGGCTTGGCTGACATGGCCACATTGCTGAGCCTGTTGGGGGCTTTGCGTTCCTGTTCTGGCCGTTTTTGGCTCGTTTTCCAGGAACGGTCGTCA... | CTCTCCTTCTGTGCGTACCCAGGCACGTGCACATGCATGCAGAGTACGCACACACGCACGCACGCCTGCACAAATCCACGCATGTTGCCAAGTCTCTGTGTTCCAGCCGTGGTGTCTGCCCCCCGGTGTTCTCTAGTTCGGCTTCTCCGCATTTCTGTGAATGATTCCGGCTTCTTGGTGTTCCCAGCAGAACTCCCTCAAGTCTGCGGCGGGGCTCTGACGGCGGTGGCTTGGCTGACATGGCCACATTGCTGAGCCTGTTGGGGGCTTTGCGTTCCTGTTCTGGCCGTTTTTGGCTCGTTTTCCAGGAACGGTCGTCA... | benign | 316,663 |
The mutation in gene RTEL1 at chromosome 20, position 63687624—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GGGGGCCTTACAGTCCTATAAGGTAGGGGCCACCTCCAGGAGGCAGGTGGAGGGCAGCCCTTGTTCCCCGGCAGGGCTGGGGGCCTTACAGTCCTATAAGGTGGGGGCCACCTCCAGGAGGCAGGTGGGGCTGGGGGTCTTCTGGTCCTAAAAGGTAAGGGGCTGCCCCCAGGACATGGGCGGGGCCTCCACACTCCTGGTCCTGTCCCCTCCAGGTGCACATCCATCCTGATGCTGGTCACCGGAGGACGGCTCAGCGGTCTGATGCCTGGAGCACCACTGCAGCCAGAAAGCGAGGTACAGACCTGGGCCCACACGCT... | GGGGGCCTTACAGTCCTATAAGGTAGGGGCCACCTCCAGGAGGCAGGTGGAGGGCAGCCCTTGTTCCCCGGCAGGGCTGGGGGCCTTACAGTCCTATAAGGTGGGGGCCACCTCCAGGAGGCAGGTGGGGCTGGGGGTCTTCTGGTCCTAAAAGGTAAGGGGCTGCCCCCAGGACATGGGCGGGGCCTCCACACTCCTGGTCCTGTCCCCTCCAGGTGCACATCCATCCTGATGCTGGTCACCGGAGGACGGCTCAGCGGTCTGATGCCTGGAGCACCACTGCAGCCAGAAAGCGAGGTACAGACCTGGGCCCACACGCT... | benign | 316,684 |
Is the variant located on chromosome 20 at position 63687745, gene RTEL1, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3'] | CAGGTGGGGCTGGGGGTCTTCTGGTCCTAAAAGGTAAGGGGCTGCCCCCAGGACATGGGCGGGGCCTCCACACTCCTGGTCCTGTCCCCTCCAGGTGCACATCCATCCTGATGCTGGTCACCGGAGGACGGCTCAGCGGTCTGATGCCTGGAGCACCACTGCAGCCAGAAAGCGAGGTACAGACCTGGGCCCACACGCTCCCCGCCCGCCCGGGTGCAGTGCCCGGCACCACCATGCCACAGGCTAGGCACATGCCCAGCCGTGGATCTCCTGCCCCCATGGGCCTGGCCACCTTCTCCATATCCAGGCCAATCCAGAGC... | CAGGTGGGGCTGGGGGTCTTCTGGTCCTAAAAGGTAAGGGGCTGCCCCCAGGACATGGGCGGGGCCTCCACACTCCTGGTCCTGTCCCCTCCAGGTGCACATCCATCCTGATGCTGGTCACCGGAGGACGGCTCAGCGGTCTGATGCCTGGAGCACCACTGCAGCCAGAAAGCGAGGTACAGACCTGGGCCCACACGCTCCCCGCCCGCCCGGGTGCAGTGCCCGGCACCACCATGCCACAGGCTAGGCACATGCCCAGCCGTGGATCTCCTGCCCCCATGGGCCTGGCCACCTTCTCCATATCCAGGCCAATCCAGAGC... | pathogenic | 316,697 |
Considering the variant on chromosome 20, location 63689581, involving gene RTEL1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3'] | TGCTTGATGCCAGTGGGTGGAGAGGGTGATGGGCAGAGAGGCAGGTGGTCAGGCCCCCAGTCCCGTCCTCACACTCTGTGCCCTCTGCCGCCCCCCGCCCCACAGGGAAGGTGCTGAGCTACTGGTGCTTCAGTCCCGGCCACAGCATGCACGAGCTGGTCCGCCAGGGCGTCCGCTCCCTCATCCTTACCAGCGGCACGCTGGCCCCGGTGTCCTCCTTTGCTCTGGAGATGCAGATGTACGGGCCACCCCTGCCAGGGCCTGAGCACCGGTGACACCTCTGACATCAGCGGGGTGGAAGTGGTGGGGGTCCCCATGAG... | TGCTTGATGCCAGTGGGTGGAGAGGGTGATGGGCAGAGAGGCAGGTGGTCAGGCCCCCAGTCCCGTCCTCACACTCTGTGCCCTCTGCCGCCCCCCGCCCCACAGGGAAGGTGCTGAGCTACTGGTGCTTCAGTCCCGGCCACAGCATGCACGAGCTGGTCCGCCAGGGCGTCCGCTCCCTCATCCTTACCAGCGGCACGCTGGCCCCGGTGTCCTCCTTTGCTCTGGAGATGCAGATGTACGGGCCACCCCTGCCAGGGCCTGAGCACCGGTGACACCTCTGACATCAGCGGGGTGGAAGTGGTGGGGGTCCCCATGAG... | pathogenic | 316,768 |
The chromosome 20, position 63690141 genetic variant in gene RTEL1: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3'] | GAGCACTGAGGCCTGAGGTCCTGAGCAGTGGCCTCTCCGGCTCTAGGTTTTCCGAGGAGTGCTTATCCTCCCTGGGGAAGGCTCTGGGTGAGTGCCCTGAATGCCCCAGCTGTGCCCATCCTGGATCCTGGACCCCTGCTCCCAAGAGCTGGTAGGGAACCCTGCAGACATCCTGCCCCTGCCTTGACCCCGGCCCCTGCACTTCCAGGCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGGGTGCGTCTCCCCTGTGTTCTGGGCGG... | GAGCACTGAGGCCTGAGGTCCTGAGCAGTGGCCTCTCCGGCTCTAGGTTTTCCGAGGAGTGCTTATCCTCCCTGGGGAAGGCTCTGGGTGAGTGCCCTGAATGCCCCAGCTGTGCCCATCCTGGATCCTGGACCCCTGCTCCCAAGAGCTGGTAGGGAACCCTGCAGACATCCTGCCCCTGCCTTGACCCCGGCCCCTGCACTTCCAGGCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGGGTGCGTCTCCCCTGTGTTCTGGGCGG... | pathogenic | 316,795 |
Is the genetic change at chromosome 20, position 63690161, within gene RTEL1 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Interstitial_lung_disease_2', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3'] | CTGAGCAGTGGCCTCTCCGGCTCTAGGTTTTCCGAGGAGTGCTTATCCTCCCTGGGGAAGGCTCTGGGTGAGTGCCCTGAATGCCCCAGCTGTGCCCATCCTGGATCCTGGACCCCTGCTCCCAAGAGCTGGTAGGGAACCCTGCAGACATCCTGCCCCTGCCTTGACCCCGGCCCCTGCACTTCCAGGCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGGGTGCGTCTCCCCTGTGTTCTGGGCGGGGTGGGTGAGGGCAGGGCTG... | CTGAGCAGTGGCCTCTCCGGCTCTAGGTTTTCCGAGGAGTGCTTATCCTCCCTGGGGAAGGCTCTGGGTGAGTGCCCTGAATGCCCCAGCTGTGCCCATCCTGGATCCTGGACCCCTGCTCCCAAGAGCTGGTAGGGAACCCTGCAGACATCCTGCCCCTGCCTTGACCCCGGCCCCTGCACTTCCAGGCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGGGTGCGTCTCCCCTGTGTTCTGGGCGGGGTGGGTGAGGGCAGGGCTG... | pathogenic | 316,798 |
Chromosome 20, position 63690337, gene RTEL1: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTGCACTTCCAGGCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGGGTGCGTCTCCCCTGTGTTCTGGGCGGGGTGGGTGAGGGCAGGGCTGGAGCATGAAGCAGGCAGTGGTCACAGCTCCTGCTTGCCCTCATCGGATCGGCGGCGTGACCAGGGCTGCCGTGTCCCTGCCTCTTCCTCCCACAGGCCCGCGACTTGGCCAGGAAGATGGAGGCGCTGAAGCCGCTGTTTGTGGAGCCCAGGAGCAAAGGCAGCTTCTCCGAGGTC... | CTGCACTTCCAGGCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGGGTGCGTCTCCCCTGTGTTCTGGGCGGGGTGGGTGAGGGCAGGGCTGGAGCATGAAGCAGGCAGTGGTCACAGCTCCTGCTTGCCCTCATCGGATCGGCGGCGTGACCAGGGCTGCCGTGTCCCTGCCTCTTCCTCCCACAGGCCCGCGACTTGGCCAGGAAGATGGAGGCGCTGAAGCCGCTGTTTGTGGAGCCCAGGAGCAAAGGCAGCTTCTCCGAGGTC... | benign | 316,812 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 63691768, gene RTEL1. What disease(s) is it linked to if pathogenic? | pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3'] | CCCCCGTGACCGAGCCGCCTCGCCCCACAGTTCCTCTCTGGGCAGGAGTGGTACCGGCAGCAGGCGTCCAGGGCTGTGAACCAGGCCATCGGGCGAGTGATCCGGCACCGCCAGGACTACGGAGCTGTCTTCCTCTGTGACCACAGGTGCGTGCAGTCCGGTGGCAGGCGCGGCGCCAGGGGACACGCCCACACCCCACTGGGCCCCTGGACTCTCCTTCCCCACATGAGGCCCCGTCTCCTCCAGAGCCTCTCCGGCTACTCGGGGTCAGCGTGGGGCCCCTGCAGCAGATGAGGGTCTTCACTTCGGTGAACTGAACC... | CCCCCGTGACCGAGCCGCCTCGCCCCACAGTTCCTCTCTGGGCAGGAGTGGTACCGGCAGCAGGCGTCCAGGGCTGTGAACCAGGCCATCGGGCGAGTGATCCGGCACCGCCAGGACTACGGAGCTGTCTTCCTCTGTGACCACAGGTGCGTGCAGTCCGGTGGCAGGCGCGGCGCCAGGGGACACGCCCACACCCCACTGGGCCCCTGGACTCTCCTTCCCCACATGAGGCCCCGTCTCCTCCAGAGCCTCTCCGGCTACTCGGGGTCAGCGTGGGGCCCCTGCAGCAGATGAGGGTCTTCACTTCGGTGAACTGAACC... | pathogenic | 316,849 |
Variant at chromosome 20, position 63691818, gene RTEL1: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3'] | GTACCGGCAGCAGGCGTCCAGGGCTGTGAACCAGGCCATCGGGCGAGTGATCCGGCACCGCCAGGACTACGGAGCTGTCTTCCTCTGTGACCACAGGTGCGTGCAGTCCGGTGGCAGGCGCGGCGCCAGGGGACACGCCCACACCCCACTGGGCCCCTGGACTCTCCTTCCCCACATGAGGCCCCGTCTCCTCCAGAGCCTCTCCGGCTACTCGGGGTCAGCGTGGGGCCCCTGCAGCAGATGAGGGTCTTCACTTCGGTGAACTGAACCCTTGAAGCGGCTGTGGGCAGGGCAGCAGGGCTATGGCCACCCCCCAGGTT... | GTACCGGCAGCAGGCGTCCAGGGCTGTGAACCAGGCCATCGGGCGAGTGATCCGGCACCGCCAGGACTACGGAGCTGTCTTCCTCTGTGACCACAGGTGCGTGCAGTCCGGTGGCAGGCGCGGCGCCAGGGGACACGCCCACACCCCACTGGGCCCCTGGACTCTCCTTCCCCACATGAGGCCCCGTCTCCTCCAGAGCCTCTCCGGCTACTCGGGGTCAGCGTGGGGCCCCTGCAGCAGATGAGGGTCTTCACTTCGGTGAACTGAACCCTTGAAGCGGCTGTGGGCAGGGCAGCAGGGCTATGGCCACCCCCCAGGTT... | pathogenic | 316,855 |
Considering the genetic mutation at chromosome 20, position 63692959, impacting RTEL1: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Dyskeratosis_congenita', 'Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3'] | CAGCGAACAGCGGGCGGGGAGCCCTGGCGAGGAGCAGGTACAGTTCCAGGGCCTTGGGATGGACACAGACCCTCTGTCTCCTGAGGCCAACCCGACCCCGCCCATCTGGCCTCAGGCACCTCCCCACACACCCCTGTAAATCCCCTGCCTGGCAGGCAGGCGGGCAAGCGGGCGGGGGATCCCAGCTGCCTGGCTGTCTGTGGGTCCTCCACCCCACCTCACCCACAGGCTGCTGGCTCCCAGGTGGTGCATGCCCTGGCCCTCCGCGGGTGCCCCCCACATCACTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCA... | CAGCGAACAGCGGGCGGGGAGCCCTGGCGAGGAGCAGGTACAGTTCCAGGGCCTTGGGATGGACACAGACCCTCTGTCTCCTGAGGCCAACCCGACCCCGCCCATCTGGCCTCAGGCACCTCCCCACACACCCCTGTAAATCCCCTGCCTGGCAGGCAGGCGGGCAAGCGGGCGGGGGATCCCAGCTGCCTGGCTGTCTGTGGGTCCTCCACCCCACCTCACCCACAGGCTGCTGGCTCCCAGGTGGTGCATGCCCTGGCCCTCCGCGGGTGCCCCCCACATCACTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCA... | pathogenic | 316,888 |
The chromosome 20, position 63693243 genetic variant in gene RTEL1: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3', 'RTEL1-related_disorder'] | CTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCACTCAAGGTCGGGTGCCCCTGCCACTGGCTGCGCTTGAGGCTGGCCTTTCTCCAGGAATGTGCTGCGGGTGGAACCCAGGTTCCTTCTTCCTTGGGGCCTTTTGCCCCAGAAGCCCATAATTCCTCAGGCCAACCCGAAATTTTCTCCCTGCTTCCTGCTGGGAGCCATTCCCCTCTTCCTGCCCATCCCTGCCCTTCAGGCCCCTGGAGTGAGCTCCAGGTGCAGGCACCAGGCACCTGTGTCCCCTTCCTGCCAGCCCCTCGCTGTGGTCGGACTGTCTTCCC... | CTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCACTCAAGGTCGGGTGCCCCTGCCACTGGCTGCGCTTGAGGCTGGCCTTTCTCCAGGAATGTGCTGCGGGTGGAACCCAGGTTCCTTCTTCCTTGGGGCCTTTTGCCCCAGAAGCCCATAATTCCTCAGGCCAACCCGAAATTTTCTCCCTGCTTCCTGCTGGGAGCCATTCCCCTCTTCCTGCCCATCCCTGCCCTTCAGGCCCCTGGAGTGAGCTCCAGGTGCAGGCACCAGGCACCTGTGTCCCCTTCCTGCCAGCCCCTCGCTGTGGTCGGACTGTCTTCCC... | pathogenic | 316,929 |
Clinical significance of chromosome 20, position 63694361, gene RTEL1: benign or pathogenic? Name the disease(s) if pathogenic. | benign | GCTGAGGGGCCTGGGCTGGCGAGGGCCTGGGTGGGGAGTGCCTGGGCCGCCCCTGCCTTGGTTTCCACGTTTCCGTGTTGGTCTGGGGTGTGTAGAGAGATGGGCACTGCTCATCCGGAAGCCCCTCCTTGTGCGCTGCCATCCTGGGAGCCTCAGCCGCATCCGCTGTGGGGCAGGGGGCTTGAGGGAGGAGGAGAGAGACGGGCCATGCAGGACCCCTGGCTTGAGGCAGAGCCAATCTACCCTTTGCCCATTCACTGCTCTCAGTTCCCTGCCAGCCTCTCACTGTGTGACCTCAGACGGGCCCAGCCCCACAGCTT... | GCTGAGGGGCCTGGGCTGGCGAGGGCCTGGGTGGGGAGTGCCTGGGCCGCCCCTGCCTTGGTTTCCACGTTTCCGTGTTGGTCTGGGGTGTGTAGAGAGATGGGCACTGCTCATCCGGAAGCCCCTCCTTGTGCGCTGCCATCCTGGGAGCCTCAGCCGCATCCGCTGTGGGGCAGGGGGCTTGAGGGAGGAGGAGAGAGACGGGCCATGCAGGACCCCTGGCTTGAGGCAGAGCCAATCTACCCTTTGCCCATTCACTGCTCTCAGTTCCCTGCCAGCCTCTCACTGTGTGACCTCAGACGGGCCCAGCCCCACAGCTT... | benign | 316,960 |
Is the genetic change at chromosome 20, position 63694764, within gene RTEL1 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3'] | AACGCTCAATGTTCCAAGGAAGGCTCTGCAGCCCCAGGGACCAGATGATGAGGCTGGCCCTGATGGAGCCTCGGGCCTGTGTCCTGCAGGAGGAGCCCGTGGCTGGTGCACAGACGGACAGGGCCAAGCTCTTCATGGTGGCCGTGAAGCAGGAGTTGAGCCAAGCCAACTTTGCCACCTTCACCCAGGCCCTGCAGGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCCACCCTGA... | AACGCTCAATGTTCCAAGGAAGGCTCTGCAGCCCCAGGGACCAGATGATGAGGCTGGCCCTGATGGAGCCTCGGGCCTGTGTCCTGCAGGAGGAGCCCGTGGCTGGTGCACAGACGGACAGGGCCAAGCTCTTCATGGTGGCCGTGAAGCAGGAGTTGAGCCAAGCCAACTTTGCCACCTTCACCCAGGCCCTGCAGGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCCACCCTGA... | pathogenic | 316,997 |
For chromosome 20, position 63694960, gene RTEL1: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3'] | GGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCCACCCTGAGGGCAGTGCTGCCGCCGCGTGTGGGGTGGGGGCCATCTGGGTCCAAGGTGGTCTCTGTTCTCTAGAGAAAAAGGGGCAGATGGGGACAGACGCCCCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGCCCCACCATAAGCAGCAGTTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGTGGCTATCGGCCT... | GGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCCACCCTGAGGGCAGTGCTGCCGCCGCGTGTGGGGTGGGGGCCATCTGGGTCCAAGGTGGTCTCTGTTCTCTAGAGAAAAAGGGGCAGATGGGGACAGACGCCCCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGCCCCACCATAAGCAGCAGTTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGTGGCTATCGGCCT... | pathogenic | 317,025 |
Is the genetic mutation found on chromosome 20 at position 63695383, within the gene RTEL1, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3'] | GGGCCAGAGTCCTGGGCTGCTTGGGGTGGGCATCCTCGGGCCCTGCTTGGCCCCGCCTCTCTGTTCCCCTATGGGAGTGATGGGGGCCTCCACCTCCACCACCAGCACCAGCAGCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCA... | GGGCCAGAGTCCTGGGCTGCTTGGGGTGGGCATCCTCGGGCCCTGCTTGGCCCCGCCTCTCTGTTCCCCTATGGGAGTGATGGGGGCCTCCACCTCCACCACCAGCACCAGCAGCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCA... | pathogenic | 317,057 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 63695539, gene RTEL1. What disease(s) is it linked to if pathogenic? | pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3'] | CTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATG... | CTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATG... | pathogenic | 317,076 |
Variant in gene RTEL1, located at chromosome 20 position 63695551: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3', 'RTEL1-related_disorder'] | CACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTC... | CACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTC... | pathogenic | 317,079 |
Is the genetic mutation found on chromosome 20 at position 63895194, within the gene DNAJC5, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAGGTGATCCGCCCACCCCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGGCGTACCTTCCTGTCTTATTTTCTCCAAGCAGGCTGGAATGTTCATGGATAGATATATGTGTGATAATATACTTTTTACATATCATGCATCGTGCTCATTTTAGTTTCAGGAGTTCTTTGCTCCTGTGTAGCCTTTCTACACATTATCTTTCTTTTTTTCTTCTTTTTAAATAAGAGATGGGGT... | GCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAGGTGATCCGCCCACCCCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGGCGTACCTTCCTGTCTTATTTTCTCCAAGCAGGCTGGAATGTTCATGGATAGATATATGTGTGATAATATACTTTTTACATATCATGCATCGTGCTCATTTTAGTTTCAGGAGTTCTTTGCTCCTGTGTAGCCTTTCTACACATTATCTTTCTTTTTTTCTTCTTTTTAAATAAGAGATGGGGT... | benign | 317,117 |
The mutation impacting DNAJC5 (DnaJ heat shock protein family (Hsp40) member C5) on chromosome 20 at position 63930870: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ceroid_lipofuscinosis,_neuronal,_4_(Kufs_type)', 'Neuronal_ceroid_lipofuscinosis'] | CTGATTGAGCTTGAAGAACTGCACTCTTGGGTACAGTTTCATTGAGTAACCTGTAAGAGACACCATCACTAATCCAGACAATTCAGATAGTCCTCCTCTCGTGTGCTAGCATCGTGTAGTTCATAAAACACTTCTTAAAGTGCCATCATTACGCCCCGCCGTGCTTACCGTTCACTTGGCACTTGTGCAGTTAGCGGCTGGGACACCAGGGCTGGCCTTGGTGCCGCTGAACTTAGATGTGCCGTGGCACTCACAGCCCTTGGGGCTCCCTCCTCTGAGGCTGGGTCAGGGTGAGGAGGTTTACCTGAAACAACCGCGGA... | CTGATTGAGCTTGAAGAACTGCACTCTTGGGTACAGTTTCATTGAGTAACCTGTAAGAGACACCATCACTAATCCAGACAATTCAGATAGTCCTCCTCTCGTGTGCTAGCATCGTGTAGTTCATAAAACACTTCTTAAAGTGCCATCATTACGCCCCGCCGTGCTTACCGTTCACTTGGCACTTGTGCAGTTAGCGGCTGGGACACCAGGGCTGGCCTTGGTGCCGCTGAACTTAGATGTGCCGTGGCACTCACAGCCCTTGGGGCTCCCTCCTCTGAGGCTGGGTCAGGGTGAGGAGGTTTACCTGAAACAACCGCGGA... | pathogenic | 317,147 |
Regarding the variant found on chromosome 20 at position 64028573 in gene PRPF6 (pre-mRNA processing factor 6): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ACATGTTCATACGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATTGTGAGATCAGGAGTTCGACACCAGCCTGACCAACTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCTTGCACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGCAGGTGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTATCTCAAAAAAAAACAAAACAAAACAAAAACATATATTTATCCCCACCTT... | ACATGTTCATACGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATTGTGAGATCAGGAGTTCGACACCAGCCTGACCAACTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCTTGCACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGCAGGTGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTATCTCAAAAAAAAACAAAACAAAACAAAAACATATATTTATCCCCACCTT... | benign | 317,214 |
Clinical classification of chromosome 21, position 25881780, gene APP (amyloid beta precursor protein): benign or pathogenic? Disease(s) if pathogenic? | benign | CACTCCCTACAGGGCAAGGCTGTCTAACATGTGTTTCAAAGCTCCAGTGAAACTCTCCCTCACCAGGAGACTGCTCAGGAGACAACAGTCAATTTACAACCCAAATTATGCCCGCTACAAAACTCTCCCCCACCTGGAGACTTTCGGACACCTTTGTAATCGAATTCTGTCCACAAAGACGTCAACTCAACCGCCTGGTAGATAAGGCACCACAACGAGTACAGGGACCTCCACCTGCTCACTGCCTTCCCTGCATGTCATTCGTGCCAGGCCCTCCTTTTATTTATTTATTTATTTATTTATTTATTTATTGAGACGGA... | CACTCCCTACAGGGCAAGGCTGTCTAACATGTGTTTCAAAGCTCCAGTGAAACTCTCCCTCACCAGGAGACTGCTCAGGAGACAACAGTCAATTTACAACCCAAATTATGCCCGCTACAAAACTCTCCCCCACCTGGAGACTTTCGGACACCTTTGTAATCGAATTCTGTCCACAAAGACGTCAACTCAACCGCCTGGTAGATAAGGCACCACAACGAGTACAGGGACCTCCACCTGCTCACTGCCTTCCCTGCATGTCATTCGTGCCAGGCCCTCCTTTTATTTATTTATTTATTTATTTATTTATTTATTGAGACGGA... | benign | 317,324 |
Clinical significance of chromosome 21, position 25891787, gene APP (amyloid beta precursor protein): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Alzheimer_disease'] | GCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGG... | GCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGG... | pathogenic | 317,337 |
The mutation in gene APP (amyloid beta precursor protein) at chromosome 21, position 25897626—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['APP-related_disorder', 'Alzheimer_disease', 'Alzheimer_disease_type_1'] | AATTCTTTCAATTTAGCCTCAAGGTAGTCAAATGACTGATTTTTCTAAGCTGAAACTAACATACTAGCAATCTGGAAAGGCAATATAAAATATAGCAAATGAAGCAACTTCTAAAAGTGTTTTACTCGTGGTTTATAACAAAATGAGAAATTGTTCATAATTATTCCCTTTACTAAACAAATATGCTAGCTCAACATTTTTATGAAAAGCAAATCATTAATTAGCTAATATACTAGTGTGAGGTAATCAGGAATAAATACAAGTCTGGACATATGCCTGTGCCTTTAAGAAAATACTGTAATTTTGTAATATTCATTGCA... | AATTCTTTCAATTTAGCCTCAAGGTAGTCAAATGACTGATTTTTCTAAGCTGAAACTAACATACTAGCAATCTGGAAAGGCAATATAAAATATAGCAAATGAAGCAACTTCTAAAAGTGTTTTACTCGTGGTTTATAACAAAATGAGAAATTGTTCATAATTATTCCCTTTACTAAACAAATATGCTAGCTCAACATTTTTATGAAAAGCAAATCATTAATTAGCTAATATACTAGTGTGAGGTAATCAGGAATAAATACAAGTCTGGACATATGCCTGTGCCTTTAAGAAAATACTGTAATTTTGTAATATTCATTGCA... | pathogenic | 317,345 |
A genetic variant at chromosome 21, position 31663935, affecting gene SOD1 (superoxide dismutase 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | ACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCTGCAGGGTTGTACCCGAGCACAGCTACTTAGATGTCCTGAATGTATTACCGGTTAAATGGAGGTTTCAAAGAACCTGCTGTTTTTGGCCCTGTGC... | ACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCTGCAGGGTTGTACCCGAGCACAGCTACTTAGATGTCCTGAATGTATTACCGGTTAAATGGAGGTTTCAAAGAACCTGCTGTTTTTGGCCCTGTGC... | benign | 317,460 |
Evaluate this variant at chromosome 21, position 32299077, gene MRAP (melanocortin 2 receptor accessory protein): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Glucocorticoid_deficiency_1', 'Glucocorticoid_deficiency_2'] | ATGTGACCACTGTTCTATATGGAGCTGGTCATTGATGGAAGCATTATTAGTCAGCATTTGACTGTATTTGATCTTTGTCCCTGGTAGCACAGAACTCATAAAACTTGCAATATCTGAGTAATGGGGTAAGAGAAGCATCTTCTGTTAATCAGCATAAGCCACTTTCAACTCTACCTGAGTTTATGCCAATGAGGTGGGGGCTAGTTGTCAGAGGAACCAACCATATATTAGAGGGTTGCAATGTTCACTCCCACCCTGGAAAGGGGAGAGAGGCTGGGGATTGAGTTCATTCACTGATAGCCAGTGATTTCATCAATGGT... | ATGTGACCACTGTTCTATATGGAGCTGGTCATTGATGGAAGCATTATTAGTCAGCATTTGACTGTATTTGATCTTTGTCCCTGGTAGCACAGAACTCATAAAACTTGCAATATCTGAGTAATGGGGTAAGAGAAGCATCTTCTGTTAATCAGCATAAGCCACTTTCAACTCTACCTGAGTTTATGCCAATGAGGTGGGGGCTAGTTGTCAGAGGAACCAACCATATATTAGAGGGTTGCAATGTTCACTCCCACCCTGGAAAGGGGAGAGAGGCTGGGGATTGAGTTCATTCACTGATAGCCAGTGATTTCATCAATGGT... | pathogenic | 317,507 |
For chromosome 21, position 32631618, gene SYNJ1 (synaptojanin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TCCCTCAATGTACATCTTTAAAGGTTAAGTGTGGACATAGGAATTTAGGTGGACATATACAACTCTTTATATAAAAGGAATGTTAATGTAAGTCTTAATGGGTAAAGATGATTGTAACTGAAACTGACAAAGAAACAACTATTGCTCAAGGAGTTTTCTGATTGGTTTACTTAATGATATCAAAATACTACATTCTGTAAAAATTCTGTGTACTTCTTCAAAAAATTAATAAAAGCGGGATCAGTTGCATATTGGCAGTGCAGGAGACAAAATCCGCAGCTACTTTGAGGTATAGCCTCTAAAAACTTAAAGCAGCATCA... | TCCCTCAATGTACATCTTTAAAGGTTAAGTGTGGACATAGGAATTTAGGTGGACATATACAACTCTTTATATAAAAGGAATGTTAATGTAAGTCTTAATGGGTAAAGATGATTGTAACTGAAACTGACAAAGAAACAACTATTGCTCAAGGAGTTTTCTGATTGGTTTACTTAATGATATCAAAATACTACATTCTGTAAAAATTCTGTGTACTTCTTCAAAAAATTAATAAAAGCGGGATCAGTTGCATATTGGCAGTGCAGGAGACAAAATCCGCAGCTACTTTGAGGTATAGCCTCTAAAAACTTAAAGCAGCATCA... | benign | 317,553 |
A genetic alteration at chromosome 21, position 32642150, in gene SYNJ1 (synaptojanin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TTGCCCAAAGCCACACAGAAAGCAGAGCCAGGATCCAAACTCAGGTCTGACTGGCTGCAGGGCTAGGGTTCTTAACCATGTGCAATGCTGTCTTTATGGGGAAAACTGGGATGATTTTAAAATATACAAGGAGATAGAGAGATACATACCTGAGCAACTAGGAGACTTTGGGGAAAAAACACCCTGAGATTTGTTTTTTTTTTGGTTTTTTTTTGAGATGGAGTCTCACTCTGTGGCCAGACGGGAGTGCAGTGGCACAATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCTGGCACTTTCCTGCCTCAGCCTTCCG... | TTGCCCAAAGCCACACAGAAAGCAGAGCCAGGATCCAAACTCAGGTCTGACTGGCTGCAGGGCTAGGGTTCTTAACCATGTGCAATGCTGTCTTTATGGGGAAAACTGGGATGATTTTAAAATATACAAGGAGATAGAGAGATACATACCTGAGCAACTAGGAGACTTTGGGGAAAAAACACCCTGAGATTTGTTTTTTTTTTGGTTTTTTTTTGAGATGGAGTCTCACTCTGTGGCCAGACGGGAGTGCAGTGGCACAATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCTGGCACTTTCCTGCCTCAGCCTTCCG... | benign | 317,568 |
Evaluate this variant at chromosome 21, position 32666463, gene SYNJ1 (synaptojanin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_53', 'Early-onset_Parkinson_disease_20'] | TGCCCTGGGCCTGGTAGTTAAAAATCAACCCTTGACCTAACCGCTTGTGCTATCTATAGATTTCAGACATTGTATGGAAAAGCATCGTGAAAATCCCTGTCCTGTTCCATTCTGATTACCAGTGCATGCAGCCCCCAGTCCCATACCCCCTGCTTGCTCAATCGATCACGACCCTCTCACATGGACTCCCTTAGAGCTGTAAGCCCTTAAAAGGGACAGGAATTGCTCACTCGGGGAGCTCGGTTTTTGGAGACGTGAGTCCGCTGCTGCTCCCAGCTGAATAAAGCCCTTTCCTTCTACAACTTGGTGTCTGAAGGGTT... | TGCCCTGGGCCTGGTAGTTAAAAATCAACCCTTGACCTAACCGCTTGTGCTATCTATAGATTTCAGACATTGTATGGAAAAGCATCGTGAAAATCCCTGTCCTGTTCCATTCTGATTACCAGTGCATGCAGCCCCCAGTCCCATACCCCCTGCTTGCTCAATCGATCACGACCCTCTCACATGGACTCCCTTAGAGCTGTAAGCCCTTAAAAGGGACAGGAATTGCTCACTCGGGGAGCTCGGTTTTTGGAGACGTGAGTCCGCTGCTGCTCCCAGCTGAATAAAGCCCTTTCCTTCTACAACTTGGTGTCTGAAGGGTT... | pathogenic | 317,585 |
Determine whether the variant at chromosome 21, position 33246729, in gene IFNAR2 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Immunodeficiency_45', 'Primary_immunodeficiency_with_post-measles-mumps-rubella_vaccine_viral_infection'] | CATCGGAGAAGCCCTTCTGTCCAGACTCTCCTTACACAGTGCACAGTCCCTGTTTCCCATGCTTGCCTGCCCTGACAATATGTTGCTCGTTAATTGACTTACTAATTTATTTCCCATGTCCTGTAGACTTCCTGTTTTCAAGACACCAGGGCTCTCTGGAGAGGTTATCTGCCAGAGGTGTGGGTTCTAGATCCCAAGAAATGACTGAACAGTGGCCAGAATACAACTGTGGGTTCCAAATTTCAATGCCCTTTTTCTTCTTCTCTTTAGATTACACAGATGAATCTTGCACTTTCAAGATATCATTGCGAAATTTCCGG... | CATCGGAGAAGCCCTTCTGTCCAGACTCTCCTTACACAGTGCACAGTCCCTGTTTCCCATGCTTGCCTGCCCTGACAATATGTTGCTCGTTAATTGACTTACTAATTTATTTCCCATGTCCTGTAGACTTCCTGTTTTCAAGACACCAGGGCTCTCTGGAGAGGTTATCTGCCAGAGGTGTGGGTTCTAGATCCCAAGAAATGACTGAACAGTGGCCAGAATACAACTGTGGGTTCCAAATTTCAATGCCCTTTTTCTTCTTCTCTTTAGATTACACAGATGAATCTTGCACTTTCAAGATATCATTGCGAAATTTCCGG... | pathogenic | 317,619 |
Considering the genetic mutation at chromosome 21, position 33252675, impacting IFNAR2: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Immunodeficiency_45', 'Primary_immunodeficiency_with_post-measles-mumps-rubella_vaccine_viral_infection'] | TCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCAGCACACCCAGATAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCAGGCGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAAGCATGAGCCACCATGCCCAGCTCATAATTCTGCATATATTTTGCATGTGGAGCAAGACTAACTTCCCCATTAACTATGGAAGATGATGAATGAAGCAGGTGAGGGTTAGATAGGGTTAGAGGGTTTGGGA... | TCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCAGCACACCCAGATAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCAGGCGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAAGCATGAGCCACCATGCCCAGCTCATAATTCTGCATATATTTTGCATGTGGAGCAAGACTAACTTCCCCATTAACTATGGAAGATGATGAATGAAGCAGGTGAGGGTTAGATAGGGTTAGAGGGTTTGGGA... | pathogenic | 317,622 |
Does the variant on chromosome 21 at location 33262774 affecting gene IFNAR2 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TGGTAGGTAGTTTTTTTGTTTTGTTTTGTTTTTTCTATCTTTGTTTTTTATTTTAACTTAAGAATTTGTATTTATATAAATATTTTCACAGAAGAAAATCTCATTTTCTATAAACACCAAAATGCTTTCTCACTCTGAGTTCTTTTCCATATCTATAAATGTATATTTTGCAGGGTTTTTGTTTTGTTTTTGTTTTTATTATACTTTTAAGTTTTAGGGTACATGTGCACAGTGTGCAGGTTAGTTACATATATATACATGTGCAGTTGTAAGTGTATCTGTGCATCTGTGCATTTTATGTTTTCTTTCCTTTTTTTTTT... | TGGTAGGTAGTTTTTTTGTTTTGTTTTGTTTTTTCTATCTTTGTTTTTTATTTTAACTTAAGAATTTGTATTTATATAAATATTTTCACAGAAGAAAATCTCATTTTCTATAAACACCAAAATGCTTTCTCACTCTGAGTTCTTTTCCATATCTATAAATGTATATTTTGCAGGGTTTTTGTTTTGTTTTTGTTTTTATTATACTTTTAAGTTTTAGGGTACATGTGCACAGTGTGCAGGTTAGTTACATATATATACATGTGCAGTTGTAAGTGTATCTGTGCATCTGTGCATTTTATGTTTTCTTTCCTTTTTTTTTT... | benign | 317,625 |
Mutation at chromosome 21, position 33432890, within TMEM50B: benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TGTTTTCAAGCATATGTTATACCACCATTTCATGTGGCTGTAGTGGATTATATTGTATCTCAAAATTAGAAAACAGTTCTTTGCAAGAAACCCTATACTGCCATAATAGGGTATCGCTGTTTTCCACTTTGGTATGGGACAATGACAGCCTTGCCAGGACAACAGGAGCCATTGCCTGGAAGACCAGGTGGGGAGGCAGCAAGGCCTGCTCAAGGCAGCAGAGGGATGCGCAGAGGAGACACAGAACCTTCCTAGAGTCTAGGGTCCAGTTGTCTCCTGATGACATAAATCCTTAAGGTCATTTTAGCTGAAACTATAGG... | TGTTTTCAAGCATATGTTATACCACCATTTCATGTGGCTGTAGTGGATTATATTGTATCTCAAAATTAGAAAACAGTTCTTTGCAAGAAACCCTATACTGCCATAATAGGGTATCGCTGTTTTCCACTTTGGTATGGGACAATGACAGCCTTGCCAGGACAACAGGAGCCATTGCCTGGAAGACCAGGTGGGGAGGCAGCAAGGCCTGCTCAAGGCAGCAGAGGGATGCGCAGAGGAGACACAGAACCTTCCTAGAGTCTAGGGTCCAGTTGTCTCCTGATGACATAAATCCTTAAGGTCATTTTAGCTGAAACTATAGG... | benign | 317,676 |
The chromosome 21, position 33549607 genetic variant in gene SON (SON DNA and RNA binding protein): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Inborn_genetic_diseases', 'ZTTK_syndrome'] | AACAGACTTGCTTAGATTCATGGCTCTAACAACCTTCATTGAAGTATGACTTATCTAACATTTTGTATTATGAAACAAACAATTAATAGAAAATGGTAAGTTTTGCTTTGGCCTATGTCAAGTGTTGATTTATTTTCTTCTGTAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGACGCCCAGGCTGGAGTGCAGTGGGGTGATCTCAGCTGACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTGTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCACACCACCACGCCCGGC... | AACAGACTTGCTTAGATTCATGGCTCTAACAACCTTCATTGAAGTATGACTTATCTAACATTTTGTATTATGAAACAAACAATTAATAGAAAATGGTAAGTTTTGCTTTGGCCTATGTCAAGTGTTGATTTATTTTCTTCTGTAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGACGCCCAGGCTGGAGTGCAGTGGGGTGATCTCAGCTGACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTGTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCACACCACCACGCCCGGC... | pathogenic | 317,691 |
Regarding the variant at chromosome 21 and position 33550498, affecting gene SON (SON DNA and RNA binding protein): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GAATGTAACGTAGGCATGATAAGGTAAAATTTGAGTTCTCTATGAATATTTTATATTTGTTATTCAGATATTTTTATACTCTGTAGAAGCAATCACTAACCTTTGTTGAAAGCTTATTCTGTGCCAGGCATTATTTGATGTACTTTGCATGTTTTAACTCACTTTATCCTCTAACTCTAGAAGACACAAGTGTGTCAGTAATTTGGCCAAGACCATTAACCTAGTAAGTGATGAACTGATTGAGGATTCAAAAGTGGCAGTCTGTTCCAGAGCCAGTGCCATGTTGCTTCCTGTATAAACAAGGGTTAATAATCGCAAAA... | GAATGTAACGTAGGCATGATAAGGTAAAATTTGAGTTCTCTATGAATATTTTATATTTGTTATTCAGATATTTTTATACTCTGTAGAAGCAATCACTAACCTTTGTTGAAAGCTTATTCTGTGCCAGGCATTATTTGATGTACTTTGCATGTTTTAACTCACTTTATCCTCTAACTCTAGAAGACACAAGTGTGTCAGTAATTTGGCCAAGACCATTAACCTAGTAAGTGATGAACTGATTGAGGATTCAAAAGTGGCAGTCTGTTCCAGAGCCAGTGCCATGTTGCTTCCTGTATAAACAAGGGTTAATAATCGCAAAA... | benign | 317,709 |
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