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 |
|---|---|---|---|---|---|
Does the variant on chromosome 2 at location 165367272 affecting gene SCN2A (sodium voltage-gated channel alpha subunit 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_11', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Seizures,_benign_familial_infantile,_3'] | CCTGAGGAATCCCTTGAACCTGAAGCCTGTTTTACAGAAGGTAAGCAAAACAATAACATATGTGGTCTTGAGTATCCTCTTTTCTACCCATTTTTTCCTATTTATTTAAATGTCTGTTTATTTGTCTACCATCTATTATCTATCTATCTGTATCTATCTATCTATCTATCTATCTAGTAATCATCTATACCTATCCAACAACTGTACATTTATTTGTTTTTTTTTGCATTTGCTGTTTGAAAAAAAATGCAACTTTTTAAAAGGCAAAGTTTAATTTATGTAATTAGATATTTTCATTTTTATGAATCATTTTTAACTCT... | CCTGAGGAATCCCTTGAACCTGAAGCCTGTTTTACAGAAGGTAAGCAAAACAATAACATATGTGGTCTTGAGTATCCTCTTTTCTACCCATTTTTTCCTATTTATTTAAATGTCTGTTTATTTGTCTACCATCTATTATCTATCTATCTGTATCTATCTATCTATCTATCTATCTAGTAATCATCTATACCTATCCAACAACTGTACATTTATTTGTTTTTTTTTGCATTTGCTGTTTGAAAAAAAATGCAACTTTTTAAAAGGCAAAGTTTAATTTATGTAATTAGATATTTTCATTTTTATGAATCATTTTTAACTCT... | pathogenic | 44,805 |
The chromosome 2, position 165388783 genetic variant in gene SCN2A (sodium voltage-gated channel alpha subunit 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_11', 'Inborn_genetic_diseases'] | ATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCATTGTAGGTAAGAAGAGGTGCTTTTATTCAGTTAAGGAATATAGT... | ATTTGTTCCAGAACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCATTGTAGGTAAGAAGAGGTGCTTTTATTCAGTTAAGGAATATAGT... | pathogenic | 44,901 |
The chromosome 2, position 165759516 genetic variant in gene GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Tumoral_calcinosis,_hyperphosphatemic,_familial,_1'] | GTAAGTTAACAAAATGGTGATTTCAGATTTTTCATAAAAATGAATTCCAGGCTTTTGTTTTTGCAAATAATTATGTAAGTTCTCTAATATGCACAGAAAACTAAAGGCTCTTATGCATTTGACTTCTGTCTGAACTACTGACATAGTCACTTCACTTAAACTAGAGTTTCTCTTCAAAGTTTGGATATAAGTGGACTCAGACCCTATTTATCTCTTGTATATTCAATTTTGTAACCAAGAAAACAATTCCAGATGGCTATTATTACCAATGATCATTCTACTGAACTTGCAAAGTAGAGGATGATTATTTAAAAATTCAT... | GTAAGTTAACAAAATGGTGATTTCAGATTTTTCATAAAAATGAATTCCAGGCTTTTGTTTTTGCAAATAATTATGTAAGTTCTCTAATATGCACAGAAAACTAAAGGCTCTTATGCATTTGACTTCTGTCTGAACTACTGACATAGTCACTTCACTTAAACTAGAGTTTCTCTTCAAAGTTTGGATATAAGTGGACTCAGACCCTATTTATCTCTTGTATATTCAATTTTGTAACCAAGAAAACAATTCCAGATGGCTATTATTACCAATGATCATTCTACTGAACTTGCAAAGTAGAGGATGATTATTTAAAAATTCAT... | pathogenic | 44,957 |
Gene GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3) variant at chromosome position 165761939 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Tumoral_calcinosis,_hyperphosphatemic,_familial,_1'] | TTTGAGTAGACAATATATTATTATTAATTACAGTCACCACGTTGTACAATAGATCTCCAGAAGGGGAGATTTTTTAAAGGTTTATTGTGATGAGATGAGGGTAGGATGAAAAAGGTGAAAAAAGATTCACTACAGTTAGAAAAATTCCCCTACAGATGATGACCTTCTTTCTTCTACAAAAGATGCAAAATAACACCAGTGTATTTAAAGTTTAGATGATGTGTTAAAATGGCCTATGAGTCAAAGGTAGCTTTTTGCTGTTCCACATTACCTGGCCCTAAAAGTGTTCTGATTTATTTAAACTCGTATCTCCCTGAATA... | TTTGAGTAGACAATATATTATTATTAATTACAGTCACCACGTTGTACAATAGATCTCCAGAAGGGGAGATTTTTTAAAGGTTTATTGTGATGAGATGAGGGTAGGATGAAAAAGGTGAAAAAAGATTCACTACAGTTAGAAAAATTCCCCTACAGATGATGACCTTCTTTCTTCTACAAAAGATGCAAAATAACACCAGTGTATTTAAAGTTTAGATGATGTGTTAAAATGGCCTATGAGTCAAAGGTAGCTTTTTGCTGTTCCACATTACCTGGCCCTAAAAGTGTTCTGATTTATTTAAACTCGTATCTCCCTGAATA... | pathogenic | 44,959 |
Variant on chromosome 2, at position 165761993, affecting GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Tumoral_calcinosis,_hyperphosphatemic,_familial,_1'] | CTCCAGAAGGGGAGATTTTTTAAAGGTTTATTGTGATGAGATGAGGGTAGGATGAAAAAGGTGAAAAAAGATTCACTACAGTTAGAAAAATTCCCCTACAGATGATGACCTTCTTTCTTCTACAAAAGATGCAAAATAACACCAGTGTATTTAAAGTTTAGATGATGTGTTAAAATGGCCTATGAGTCAAAGGTAGCTTTTTGCTGTTCCACATTACCTGGCCCTAAAAGTGTTCTGATTTATTTAAACTCGTATCTCCCTGAATAAGGTACAGTAATTGAAATTTTCATTTATCTGACTGGGTCTTAGGAGAAAATAAG... | CTCCAGAAGGGGAGATTTTTTAAAGGTTTATTGTGATGAGATGAGGGTAGGATGAAAAAGGTGAAAAAAGATTCACTACAGTTAGAAAAATTCCCCTACAGATGATGACCTTCTTTCTTCTACAAAAGATGCAAAATAACACCAGTGTATTTAAAGTTTAGATGATGTGTTAAAATGGCCTATGAGTCAAAGGTAGCTTTTTGCTGTTCCACATTACCTGGCCCTAAAAGTGTTCTGATTTATTTAAACTCGTATCTCCCTGAATAAGGTACAGTAATTGAAATTTTCATTTATCTGACTGGGTCTTAGGAGAAAATAAG... | pathogenic | 44,961 |
Chromosome 2, position 165770434, gene GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Tumoral_calcinosis,_hyperphosphatemic,_familial,_1'] | TAATGTAGATTACTTTTCAATCAAAACCTCTCTTCAAGTCAGTAAAGTGCAATACTGCATTCTAATCTATTACTGTATGAAAGGAACTATAATGTGCCTTGTTATATCAGCTAGAATATTTTATAGATATTAGTTTCTTTACACATTCATTTAAAAATTATGAGCAACCTAAACTTGAATCAATCAGATTAGAATAGCTCAACAGAAATCTAAGCTACACAGTTTCAATGTTAAGGGACTCATATACTTGGATCCAGTATTGATAATCCTAAATCTAGAAAAACCTGAGTGAAACAATAGACCAAAAGTTATCTTCAAGT... | TAATGTAGATTACTTTTCAATCAAAACCTCTCTTCAAGTCAGTAAAGTGCAATACTGCATTCTAATCTATTACTGTATGAAAGGAACTATAATGTGCCTTGTTATATCAGCTAGAATATTTTATAGATATTAGTTTCTTTACACATTCATTTAAAAATTATGAGCAACCTAAACTTGAATCAATCAGATTAGAATAGCTCAACAGAAATCTAAGCTACACAGTTTCAATGTTAAGGGACTCATATACTTGGATCCAGTATTGATAATCCTAAATCTAGAAAAACCTGAGTGAAACAATAGACCAAAAGTTATCTTCAAGT... | pathogenic | 44,972 |
Classify the chromosome 2 variant at position 165874841 affecting gene TTC21B (tetratricopeptide repeat domain 21B) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ACGATTCCAGATTTGTAAAACAGGGATAATAATGCCGGCATTTTAGGTTTGTGAAGATCAAATGTAAGGAATATGAAAGTATTTTAACATATATGAAGTGACTTATAAATTCTATTATTAAACATTCTATGAAATGCCATAAATAAAAGCTAGGTGACAAGGCGGCCAGATTACTTGAGGCCAGAAGTTCGAGACCAGCCTAGCCAACATGGCGAAACCCCATCTCTACTGCAGATACAAAAATTAGCCAGGCGTGGTGGCGTGTGCCTTTAGTCCCAGCTACTCAAGAAGCTGACGCAGGAGAATTGCTTGAACCCAGG... | ACGATTCCAGATTTGTAAAACAGGGATAATAATGCCGGCATTTTAGGTTTGTGAAGATCAAATGTAAGGAATATGAAAGTATTTTAACATATATGAAGTGACTTATAAATTCTATTATTAAACATTCTATGAAATGCCATAAATAAAAGCTAGGTGACAAGGCGGCCAGATTACTTGAGGCCAGAAGTTCGAGACCAGCCTAGCCAACATGGCGAAACCCCATCTCTACTGCAGATACAAAAATTAGCCAGGCGTGGTGGCGTGTGCCTTTAGTCCCAGCTACTCAAGAAGCTGACGCAGGAGAATTGCTTGAACCCAGG... | benign | 44,983 |
Gene TTC21B (tetratricopeptide repeat domain 21B) variant at chromosome position 165898722 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Asphyxiating_thoracic_dystrophy_4', 'Jeune_thoracic_dystrophy', 'Nephronophthisis', 'Nephronophthisis_12'] | GTGGGAGCAGCATATTCCGGGAAGTAGAAACAGCAAACAAAAAGGCTCAAGGCTGTAATTGGCTTGGGCTTTTGCCTACCTAGTTTCTGTTGTCCCTTTCTTCTTTACTATCAGAATTCTGATTTTATTCTACAGGGTATTAGATTCAGCTAAAAGATAACATTTCCCACCTTCTTTTGCAGCCACGGAGGTGATACTACTAAGGGTTTTTTTGTTTGTTTGTTTGTTTTGTTTTTAATAAAACGATGATTTGCTGGTTGGGAAGCCCTTTTGCCCAGCTCTGCACCCACCTTCCCCACCTGGGCCCTGGAACATCAATG... | GTGGGAGCAGCATATTCCGGGAAGTAGAAACAGCAAACAAAAAGGCTCAAGGCTGTAATTGGCTTGGGCTTTTGCCTACCTAGTTTCTGTTGTCCCTTTCTTCTTTACTATCAGAATTCTGATTTTATTCTACAGGGTATTAGATTCAGCTAAAAGATAACATTTCCCACCTTCTTTTGCAGCCACGGAGGTGATACTACTAAGGGTTTTTTTGTTTGTTTGTTTGTTTTGTTTTTAATAAAACGATGATTTGCTGGTTGGGAAGCCCTTTTGCCCAGCTCTGCACCCACCTTCCCCACCTGGGCCCTGGAACATCAATG... | pathogenic | 45,000 |
Does the chromosome 2 mutation at position 165901737 within gene TTC21B (tetratricopeptide repeat domain 21B) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Asphyxiating_thoracic_dystrophy_4', 'Jeune_thoracic_dystrophy', 'Nephronophthisis', 'Nephronophthisis_12'] | TCTAGTAGTAGTTCCATGGGGTAAAATTTAAAACTTATAAAACACAAGTGCTTTTATTGTACTGAAGTTCCTTGGACTGACCATGGTAGCAGCTTCGTTATCCTGGTCACTCTGAAGCAGTAGAGCACACTGCCGCAGGCAGGAATCAGGGTCATCTTGTGCCAGGTATAATCGTGCCAGTTCCAACATAATCTGTAGAGCAAAGGGCTAGATTCATCAGACACTGTATAGAATAAAAAGTCAATGAGGAAAATACGTGGGTACAGATTAAACTTTAGTTGACCAAAAGTCATTGCAATAAAATGCCAAGTATAATAGAC... | TCTAGTAGTAGTTCCATGGGGTAAAATTTAAAACTTATAAAACACAAGTGCTTTTATTGTACTGAAGTTCCTTGGACTGACCATGGTAGCAGCTTCGTTATCCTGGTCACTCTGAAGCAGTAGAGCACACTGCCGCAGGCAGGAATCAGGGTCATCTTGTGCCAGGTATAATCGTGCCAGTTCCAACATAATCTGTAGAGCAAAGGGCTAGATTCATCAGACACTGTATAGAATAAAAAGTCAATGAGGAAAATACGTGGGTACAGATTAAACTTTAGTTGACCAAAAGTCATTGCAATAAAATGCCAAGTATAATAGAC... | pathogenic | 45,008 |
Is the genetic change at chromosome 2, position 165901914, within gene TTC21B (tetratricopeptide repeat domain 21B) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CAGTTCCAACATAATCTGTAGAGCAAAGGGCTAGATTCATCAGACACTGTATAGAATAAAAAGTCAATGAGGAAAATACGTGGGTACAGATTAAACTTTAGTTGACCAAAAGTCATTGCAATAAAATGCCAAGTATAATAGACAAAAAAAAAAAAAAAACAACAGTATGTATACCCATCTCTATTTTCTCTTACACTAGAAAAAAAAAAAACAGAGAAACAGGTAGTAACTCACTTCAAAAGTAGAGAGACATAATGCATTGTGAAAAGAACACTGGTCTTAAAACCATGAGACTGGATTATAGTCCCATAACGGGGCCA... | CAGTTCCAACATAATCTGTAGAGCAAAGGGCTAGATTCATCAGACACTGTATAGAATAAAAAGTCAATGAGGAAAATACGTGGGTACAGATTAAACTTTAGTTGACCAAAAGTCATTGCAATAAAATGCCAAGTATAATAGACAAAAAAAAAAAAAAAACAACAGTATGTATACCCATCTCTATTTTCTCTTACACTAGAAAAAAAAAAAACAGAGAAACAGGTAGTAACTCACTTCAAAAGTAGAGAGACATAATGCATTGTGAAAAGAACACTGGTCTTAAAACCATGAGACTGGATTATAGTCCCATAACGGGGCCA... | benign | 45,011 |
Does the variant impacting TTC21B (tetratricopeptide repeat domain 21B) on chromosome 2, position 165907763, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Asphyxiating_thoracic_dystrophy_4', 'Jeune_thoracic_dystrophy', 'Nephronophthisis', 'Nephronophthisis_12'] | CCTCTCATACAAATAGACCAAAACCAAGCAAACAAATAACGACCAAACACTAAGAACAGGGAAGATGTACAGAAATCAGTCAACAAACCTGACCTAATTGACATACGGTTGAACTAAGTATTTATTAGGTTGGTGCAAAAGTAATTGTGGTTACAGTAATGTTAGAAACACATTATTTCAAGTCCACATGGAACCTTTACCAAAACTGATTATAATGTAGGATGTAAAGCAAGCTTCAACAAATTGCAAAGGATTGAATCATTCAAAGTATGTCTTGGCACAGCAGAAGTGTACTAGAAGTCAGTATCAAAAAGATAACA... | CCTCTCATACAAATAGACCAAAACCAAGCAAACAAATAACGACCAAACACTAAGAACAGGGAAGATGTACAGAAATCAGTCAACAAACCTGACCTAATTGACATACGGTTGAACTAAGTATTTATTAGGTTGGTGCAAAAGTAATTGTGGTTACAGTAATGTTAGAAACACATTATTTCAAGTCCACATGGAACCTTTACCAAAACTGATTATAATGTAGGATGTAAAGCAAGCTTCAACAAATTGCAAAGGATTGAATCATTCAAAGTATGTCTTGGCACAGCAGAAGTGTACTAGAAGTCAGTATCAAAAAGATAACA... | pathogenic | 45,015 |
Determine whether the variant at chromosome 2, position 165919290, in gene TTC21B (tetratricopeptide repeat domain 21B) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Asphyxiating_thoracic_dystrophy_4', 'Inborn_genetic_diseases', 'Nephronophthisis_12'] | TAAAACTTGACCTACCTGCTCTCCATTTAAGCGGTGAACGTCTATCAATTCAAGAAAGATCGATAAACGATGGCTTGTATCAACTTCAGTTTTTCTGTCTTTTGATTTTGTGGAAGCTCCAATTCTTTTCATTCCTGGTAAACTCATTGCCATATGCAGTGTTTTAATTGCGTCTGCTATTTCTCCCATTTTCTTTTGTGACTGAGCTTTTATCAAATGGTATAAAGGATAGTCTCTCACCTGAAGAATAATATTTAATATTTCCTTGGAGTGCTTACAACATCAACACATAATTTACAATCCATCAAACATTAAAATAA... | TAAAACTTGACCTACCTGCTCTCCATTTAAGCGGTGAACGTCTATCAATTCAAGAAAGATCGATAAACGATGGCTTGTATCAACTTCAGTTTTTCTGTCTTTTGATTTTGTGGAAGCTCCAATTCTTTTCATTCCTGGTAAACTCATTGCCATATGCAGTGTTTTAATTGCGTCTGCTATTTCTCCCATTTTCTTTTGTGACTGAGCTTTTATCAAATGGTATAAAGGATAGTCTCTCACCTGAAGAATAATATTTAATATTTCCTTGGAGTGCTTACAACATCAACACATAATTTACAATCCATCAAACATTAAAATAA... | pathogenic | 45,040 |
Classify the chromosome 2 variant at position 165924582 affecting gene TTC21B (tetratricopeptide repeat domain 21B) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Asphyxiating_thoracic_dystrophy_4', 'Jeune_thoracic_dystrophy', 'Nephronophthisis', 'Nephronophthisis_12'] | TACCACAGCCGGAATAGCCACTATTAAAAAGTCAAAAAAAAAAAAAAAAAAAAGACGTTGGCATGGATGTGGTCAAAGGGAACACTTATACATTGCTAGTGAGAATGTAAATTAGTACAACCTCTTTGGAAAATAGTATGAAGATTTCTCAAAGAACTAAAAGTAGATTTACCATTCAATCCAGAAATCCCACTACTAGATATCTACCCAAAGGAAAAGAAATCATTATATCAAAAAGTCACCTGCATGTGTATGTTTCTTGCAGTACAATTCATAATTGCAAAGACATGGAACCAACATAAGCGTCCATCAACCGATGA... | TACCACAGCCGGAATAGCCACTATTAAAAAGTCAAAAAAAAAAAAAAAAAAAAGACGTTGGCATGGATGTGGTCAAAGGGAACACTTATACATTGCTAGTGAGAATGTAAATTAGTACAACCTCTTTGGAAAATAGTATGAAGATTTCTCAAAGAACTAAAAGTAGATTTACCATTCAATCCAGAAATCCCACTACTAGATATCTACCCAAAGGAAAAGAAATCATTATATCAAAAAGTCACCTGCATGTGTATGTTTCTTGCAGTACAATTCATAATTGCAAAGACATGGAACCAACATAAGCGTCCATCAACCGATGA... | pathogenic | 45,043 |
Benign or pathogenic: chromosome 2, position 165929200, gene TTC21B (tetratricopeptide repeat domain 21B) variant? Disease(s) if pathogenic? | pathogenic; ['Asphyxiating_thoracic_dystrophy_4', 'Jeune_thoracic_dystrophy', 'Nephronophthisis', 'Nephronophthisis_12', 'Retinal_dystrophy', 'Type_IV_short_rib_polydactyly_syndrome'] | ATATATATATATCCTAACAGTTATATATATATATATCCTAGTAGTTATATATATATATATCCTAGTAGTTATATATATATATATATCCTAGTAGTTATATATATATATATCCTAGTAGTTATATATATATATATCCTAGTAGTTATATATATATATTATATATTATATAATATATATATAATATATAATATATATATAATATATTTTATATATATATATATATATCCTATTTTCAAGTCTTTGTTCAGATCTTACCCTCTTCATGAGGCCTATCCTGACCACTGTATCTAAAATCGCCATCACCCAACCATGCTCTATTA... | ATATATATATATCCTAACAGTTATATATATATATATCCTAGTAGTTATATATATATATATCCTAGTAGTTATATATATATATATATCCTAGTAGTTATATATATATATATCCTAGTAGTTATATATATATATATCCTAGTAGTTATATATATATATTATATATTATATAATATATATATAATATATAATATATATATAATATATTTTATATATATATATATATATCCTATTTTCAAGTCTTTGTTCAGATCTTACCCTCTTCATGAGGCCTATCCTGACCACTGTATCTAAAATCGCCATCACCCAACCATGCTCTATTA... | pathogenic | 45,049 |
Clinical significance of chromosome 2, position 165941196, gene TTC21B: benign or pathogenic? Name the disease(s) if pathogenic. | benign | GATAAAGAGTACCTCATGATGTTCTTCTGTCTGCTTTTACATAAATCTGAAATTCTCCATAATAAATGATAGACGATCTTAGCAAAGATGTTACCAAGATGTTCGGCCCTGAGATAGCCATTAATATTTTGTCAGATATGAATAAAAGTTAGACATGCTTGCAAGTCACTTATTCTCAAGATTCTAAGACTATAAACCTTAATCCAAACTGAAGTAAAGGTGACTTTCTATGCAATTTATACTTCATTTGTATCTTGAAAGTATCCTGCCTATTGTTTGCATGAAAAGTTCTATTAAGACATTCTGATTTTAAAGGTATA... | GATAAAGAGTACCTCATGATGTTCTTCTGTCTGCTTTTACATAAATCTGAAATTCTCCATAATAAATGATAGACGATCTTAGCAAAGATGTTACCAAGATGTTCGGCCCTGAGATAGCCATTAATATTTTGTCAGATATGAATAAAAGTTAGACATGCTTGCAAGTCACTTATTCTCAAGATTCTAAGACTATAAACCTTAATCCAAACTGAAGTAAAGGTGACTTTCTATGCAATTTATACTTCATTTGTATCTTGAAAGTATCCTGCCTATTGTTTGCATGAAAAGTTCTATTAAGACATTCTGATTTTAAAGGTATA... | benign | 45,076 |
Mutation found at chromosome 2 position 165943273, gene TTC21B: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Asphyxiating_thoracic_dystrophy_4', 'Nephronophthisis_12'] | TTCATATCAAAGTTCTCATAACGCAGAGCAGGCAGAGTATGAGCGTTTAATACTTACTTTTCTGTGAGGAGCAGTTATCACTTTTTAAGTTTTTGTCAAAACAAAATTTTAAAACATCACAGAATAATACAAATACATTATATAAGCTATTGTGTTTTAAAATTTACTTTTAAATGGCTGAAAAACATGATTAAAGGATAAAATTTTTTAAAATGTTCTCGGAAATACCATAAAATAATGTTTCCATTTAAAACAAAATTATCTTTTTAGATTAAAATGTTTCCAGGAAATTTTCAAGTAGCATCTAAAATTTTAAGAAA... | TTCATATCAAAGTTCTCATAACGCAGAGCAGGCAGAGTATGAGCGTTTAATACTTACTTTTCTGTGAGGAGCAGTTATCACTTTTTAAGTTTTTGTCAAAACAAAATTTTAAAACATCACAGAATAATACAAATACATTATATAAGCTATTGTGTTTTAAAATTTACTTTTAAATGGCTGAAAAACATGATTAAAGGATAAAATTTTTTAAAATGTTCTCGGAAATACCATAAAATAATGTTTCCATTTAAAACAAAATTATCTTTTTAGATTAAAATGTTTCCAGGAAATTTTCAAGTAGCATCTAAAATTTTAAGAAA... | pathogenic | 45,080 |
A genetic alteration at chromosome 2, position 165943339, in gene TTC21B—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Asphyxiating_thoracic_dystrophy_4', 'Jeune_thoracic_dystrophy', 'Nephronophthisis', 'Nephronophthisis_12'] | AGGAGCAGTTATCACTTTTTAAGTTTTTGTCAAAACAAAATTTTAAAACATCACAGAATAATACAAATACATTATATAAGCTATTGTGTTTTAAAATTTACTTTTAAATGGCTGAAAAACATGATTAAAGGATAAAATTTTTTAAAATGTTCTCGGAAATACCATAAAATAATGTTTCCATTTAAAACAAAATTATCTTTTTAGATTAAAATGTTTCCAGGAAATTTTCAAGTAGCATCTAAAATTTTAAGAAATTTTAGAAATTTTGCATCTTTTTTAAGAAATTATTTTCAGGTTAAAGAATATATGATTTTAAAGAA... | AGGAGCAGTTATCACTTTTTAAGTTTTTGTCAAAACAAAATTTTAAAACATCACAGAATAATACAAATACATTATATAAGCTATTGTGTTTTAAAATTTACTTTTAAATGGCTGAAAAACATGATTAAAGGATAAAATTTTTTAAAATGTTCTCGGAAATACCATAAAATAATGTTTCCATTTAAAACAAAATTATCTTTTTAGATTAAAATGTTTCCAGGAAATTTTCAAGTAGCATCTAAAATTTTAAGAAATTTTAGAAATTTTGCATCTTTTTTAAGAAATTATTTTCAGGTTAAAGAATATATGATTTTAAAGAA... | pathogenic | 45,084 |
A mutation at chromosome position 165945685 on chromosome 2 in gene TTC21B: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Asphyxiating_thoracic_dystrophy_4', 'Bardet-Biedl_syndrome_2', 'Jeune_thoracic_dystrophy', 'Nephronophthisis', 'Nephronophthisis_12'] | AGTAATTGACAATTAATAACACTTAAACATGAAATTCAATATATAGATGAGAATTTGTTGTTTCTTTTTGGACAAACCGTCTAAATGAACTAAGATGAAATAACAGAAGAAGCCTTGCTTCACATATCTTAAAGATTCAGATAATCTGGCAACAATCTTCTTAACCTCTTTGATTAGTCCATTGAATTTCAAATGACAGGTGGATAGCCTGAGAAATTATAAACTGAAGAACTCATGGATATTTATCTTTACACATGTTAGTGGGCCGATGGGTTGTAAGACATATGGGATTGAAAACAAGATAAAAACTGGTTATTTTT... | AGTAATTGACAATTAATAACACTTAAACATGAAATTCAATATATAGATGAGAATTTGTTGTTTCTTTTTGGACAAACCGTCTAAATGAACTAAGATGAAATAACAGAAGAAGCCTTGCTTCACATATCTTAAAGATTCAGATAATCTGGCAACAATCTTCTTAACCTCTTTGATTAGTCCATTGAATTTCAAATGACAGGTGGATAGCCTGAGAAATTATAAACTGAAGAACTCATGGATATTTATCTTTACACATGTTAGTGGGCCGATGGGTTGTAAGACATATGGGATTGAAAACAAGATAAAAACTGGTTATTTTT... | pathogenic | 45,089 |
Evaluate the clinical significance of the mutation at chromosome 2, position 165953651 in gene TTC21B (tetratricopeptide repeat domain 21B): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GTCTACCTCCCACTAAACATACCTAATGCTACTGCCTTGGTTCAGGTTAGGTTATTCAATCCAAAACATTTACTGACTGCCTACTAGTACCCAGGCACTGGGCTAGCTACTATGAATAGAAAAATGAGTAAGACATGGTTCCTGTCCCCCCGGAAAACCTACATTTTTCAGATGAGACTGTAATCTGAAGACTAACTGAAATATAATGTAGTAAATGTAAGAAAAGAGCTTATAAACTCCTTTGGGAATGTGGGATAGCAACATTTTGACAGCATTGAAAACTGAATGTGGTGTGAGGGGAGGATGGATGACTAAAATCA... | GTCTACCTCCCACTAAACATACCTAATGCTACTGCCTTGGTTCAGGTTAGGTTATTCAATCCAAAACATTTACTGACTGCCTACTAGTACCCAGGCACTGGGCTAGCTACTATGAATAGAAAAATGAGTAAGACATGGTTCCTGTCCCCCCGGAAAACCTACATTTTTCAGATGAGACTGTAATCTGAAGACTAACTGAAATATAATGTAGTAAATGTAAGAAAAGAGCTTATAAACTCCTTTGGGAATGTGGGATAGCAACATTTTGACAGCATTGAAAACTGAATGTGGTGTGAGGGGAGGATGGATGACTAAAATCA... | benign | 45,095 |
Variant chromosome 2, position 165953651, gene TTC21B (tetratricopeptide repeat domain 21B): benign or pathogenic? Disease(s)? | benign | GTCTACCTCCCACTAAACATACCTAATGCTACTGCCTTGGTTCAGGTTAGGTTATTCAATCCAAAACATTTACTGACTGCCTACTAGTACCCAGGCACTGGGCTAGCTACTATGAATAGAAAAATGAGTAAGACATGGTTCCTGTCCCCCCGGAAAACCTACATTTTTCAGATGAGACTGTAATCTGAAGACTAACTGAAATATAATGTAGTAAATGTAAGAAAAGAGCTTATAAACTCCTTTGGGAATGTGGGATAGCAACATTTTGACAGCATTGAAAACTGAATGTGGTGTGAGGGGAGGATGGATGACTAAAATCA... | GTCTACCTCCCACTAAACATACCTAATGCTACTGCCTTGGTTCAGGTTAGGTTATTCAATCCAAAACATTTACTGACTGCCTACTAGTACCCAGGCACTGGGCTAGCTACTATGAATAGAAAAATGAGTAAGACATGGTTCCTGTCCCCCCGGAAAACCTACATTTTTCAGATGAGACTGTAATCTGAAGACTAACTGAAATATAATGTAGTAAATGTAAGAAAAGAGCTTATAAACTCCTTTGGGAATGTGGGATAGCAACATTTTGACAGCATTGAAAACTGAATGTGGTGTGAGGGGAGGATGGATGACTAAAATCA... | benign | 45,096 |
Clinical classification of chromosome 2, position 165953651, gene TTC21B (tetratricopeptide repeat domain 21B): benign or pathogenic? Disease(s) if pathogenic? | benign | GTCTACCTCCCACTAAACATACCTAATGCTACTGCCTTGGTTCAGGTTAGGTTATTCAATCCAAAACATTTACTGACTGCCTACTAGTACCCAGGCACTGGGCTAGCTACTATGAATAGAAAAATGAGTAAGACATGGTTCCTGTCCCCCCGGAAAACCTACATTTTTCAGATGAGACTGTAATCTGAAGACTAACTGAAATATAATGTAGTAAATGTAAGAAAAGAGCTTATAAACTCCTTTGGGAATGTGGGATAGCAACATTTTGACAGCATTGAAAACTGAATGTGGTGTGAGGGGAGGATGGATGACTAAAATCA... | GTCTACCTCCCACTAAACATACCTAATGCTACTGCCTTGGTTCAGGTTAGGTTATTCAATCCAAAACATTTACTGACTGCCTACTAGTACCCAGGCACTGGGCTAGCTACTATGAATAGAAAAATGAGTAAGACATGGTTCCTGTCCCCCCGGAAAACCTACATTTTTCAGATGAGACTGTAATCTGAAGACTAACTGAAATATAATGTAGTAAATGTAAGAAAAGAGCTTATAAACTCCTTTGGGAATGTGGGATAGCAACATTTTGACAGCATTGAAAACTGAATGTGGTGTGAGGGGAGGATGGATGACTAAAATCA... | benign | 45,097 |
Is the chromosome 2, position 165991072 variant in SCN1A clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCTCCCCTTCTCCCCCAATTTGTAATGTAAAAAATCTCCATATCATTAGAATATTCTGTTAACAAAAAGTGACTGGGCAAACAATAAAATAAAAAATGTAATCTTTATTAGTTTTGCACATTTTAAATGTTGGTTAGCATTATTTAGCATAATAGTAGCATTTTCCAGCATGCAGTTCACGAATACAGTTTATCTAAGTAGTTTTAAGGAAAAGAGGAGCCTATGGTTTGCTTCTGTAAGAAACACAAAATGTCCTGATGTAATTGAC... | GCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCTCCCCTTCTCCCCCAATTTGTAATGTAAAAAATCTCCATATCATTAGAATATTCTGTTAACAAAAAGTGACTGGGCAAACAATAAAATAAAAAATGTAATCTTTATTAGTTTTGCACATTTTAAATGTTGGTTAGCATTATTTAGCATAATAGTAGCATTTTCCAGCATGCAGTTCACGAATACAGTTTATCTAAGTAGTTTTAAGGAAAAGAGGAGCCTATGGTTTGCTTCTGTAAGAAACACAAAATGTCCTGATGTAATTGAC... | benign | 45,108 |
Considering the variant on chromosome 2, location 165991477, involving gene SCN1A, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Generalized_epilepsy_with_febrile_seizures_plus,_type_2'] | CAAAGAAATGAAAACATAAACCGAAGTCAGAAAAAAAGAACAAAAATAACATAAGCACTACCTTCAATTCAGTTAGTGCAGGTACTACCAGAAATATAAATAAAATTTTAAACCCTTTTCCAATTGCAAAGCATAATTTGGATATGAATCGTGAACCTATTTTGCTCCTTAAAATTGTGAAATAATCTAAAATTAGCAAATGTAATTTAAAAAGCAGAAATCTACAACTACCCAGTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAAC... | CAAAGAAATGAAAACATAAACCGAAGTCAGAAAAAAAGAACAAAAATAACATAAGCACTACCTTCAATTCAGTTAGTGCAGGTACTACCAGAAATATAAATAAAATTTTAAACCCTTTTCCAATTGCAAAGCATAATTTGGATATGAATCGTGAACCTATTTTGCTCCTTAAAATTGTGAAATAATCTAAAATTAGCAAATGTAATTTAAAAAGCAGAAATCTACAACTACCCAGTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAAC... | pathogenic | 45,111 |
Does the variant impacting SCN1A on chromosome 2, position 165991547, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | AGTTAGTGCAGGTACTACCAGAAATATAAATAAAATTTTAAACCCTTTTCCAATTGCAAAGCATAATTTGGATATGAATCGTGAACCTATTTTGCTCCTTAAAATTGTGAAATAATCTAAAATTAGCAAATGTAATTTAAAAAGCAGAAATCTACAACTACCCAGTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGT... | AGTTAGTGCAGGTACTACCAGAAATATAAATAAAATTTTAAACCCTTTTCCAATTGCAAAGCATAATTTGGATATGAATCGTGAACCTATTTTGCTCCTTAAAATTGTGAAATAATCTAAAATTAGCAAATGTAATTTAAAAAGCAGAAATCTACAACTACCCAGTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGT... | pathogenic | 45,121 |
Is the genetic mutation found on chromosome 2 at position 165991563, within the gene SCN1A, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | ACCAGAAATATAAATAAAATTTTAAACCCTTTTCCAATTGCAAAGCATAATTTGGATATGAATCGTGAACCTATTTTGCTCCTTAAAATTGTGAAATAATCTAAAATTAGCAAATGTAATTTAAAAAGCAGAAATCTACAACTACCCAGTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTAT... | ACCAGAAATATAAATAAAATTTTAAACCCTTTTCCAATTGCAAAGCATAATTTGGATATGAATCGTGAACCTATTTTGCTCCTTAAAATTGTGAAATAATCTAAAATTAGCAAATGTAATTTAAAAAGCAGAAATCTACAACTACCCAGTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTAT... | pathogenic | 45,123 |
Determine if the mutation at chromosome 2, position 165991641 in gene SCN1A is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CTCCTTAAAATTGTGAAATAATCTAAAATTAGCAAATGTAATTTAAAAAGCAGAAATCTACAACTACCCAGTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATA... | CTCCTTAAAATTGTGAAATAATCTAAAATTAGCAAATGTAATTTAAAAAGCAGAAATCTACAACTACCCAGTCTTGTTTTCATGTCTTATTTAGCAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATA... | benign | 45,130 |
Does the variant on chromosome 2 at location 165991735 affecting gene SCN1A have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Developmental_and_epileptic_encephalopathy_6B', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Generalized_epilepsy_with_febrile_seizures_plus,_type_2', 'Inborn_genetic_diseases', 'SCN1A_Seizure_Disorders', 'Severe_myoclonic_epilepsy_in_infancy'] | CAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAA... | CAAATTTCTTTCATGAAAAAGTACTATGGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAA... | pathogenic | 45,138 |
Clinical classification of chromosome 2, position 165991762, gene SCN1A: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | GGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATG... | GGACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATG... | pathogenic | 45,140 |
Does the variant on chromosome 2 at location 165991763 affecting gene SCN1A have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Severe_myoclonic_epilepsy_in_infancy'] | GACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGG... | GACAGAAAGTAAGAAAAGTGATTGTGATATCAACCTGAAGATAATTTCCTCTTCATATTTATGTACATAATGCTGAAAAATAAAATAAAGTGACTTTTTACAGTATTTATATTTGCTTATAAAATTCTAAACACATATTTAATAGGTTAAGCAGTGTGTTTTTTTAAACATGTCTGTACAGTCTGGCTATATACCATATGTTATCCACTTAAAATGTAAAAATAACCAAAAAGCTGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGG... | pathogenic | 45,141 |
Located at chromosome 2 position 165991997, the variant affecting gene SCN1A—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | TGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACA... | TGTTAAAGTGCTGCAAACTATTGCTTAATGACTTAAATAAATGAGATCTGTTGAACAATTTCCTTGACTTTACCACTGACATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACA... | pathogenic | 45,157 |
Does the variant impacting SCN1A on chromosome 2, position 165992076, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | CATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAA... | CATATGGTTTCTCATAAATGAGATTCTGAGCAGTGAGAGAAACCAGATACAGCAGCATGGTAATATAAACATGCATTGATAGCATCCAAACTATCTATAAATGGTACAGAATACATTTTATTACCTGTGTAAAGCTTGCACTCTACATTTCTTGTGGTACATATTTGATGCAATAAATACTGTGCTTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAA... | pathogenic | 45,167 |
Determine whether the variant at chromosome 2, position 165992261, in gene SCN1A is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy_6B', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Epileptic_encephalopathy', 'Severe_myoclonic_epilepsy_in_infancy'] | TTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACT... | TTAGGTCATTATTTGTTTGCTCAAACGTGCACCACAGGGTAAAATGACTATTTACATAATAAATAGCATTTCATTAACATATACAGTGTCAACCTTGCTGAGAGCCGAAGATGGCTAAACAAAGTGCAGGAAAAAGCAGAAATTTATAAAGAGTAATTTTGGTCAATTCAGTCTTCTGGCGGTGGAGGGTGAGGGGCAATATTCACTATTCAGGTTTTTTTTTTAATACAACAAAAAGAAACATAACATTTATGACTCCAAACATTTGAATGAAGTTTGCACCTGCTAAGATTTACTGGCCTACCCACAAATAATCTACT... | pathogenic | 45,179 |
Is the variant located on chromosome 2 at position 165994213, gene SCN1A, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_dominant_epilepsy', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | TGTCATCGATCCCAACTTCCCTCTTAACATAGGCAAAGTTGGACATCCCAAAGATGGCGTAGATGAACATGACTAGGAAGAGTAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGT... | TGTCATCGATCCCAACTTCCCTCTTAACATAGGCAAAGTTGGACATCCCAAAGATGGCGTAGATGAACATGACTAGGAAGAGTAGGAGGCCGATGTTAAACAACGCAGGAAGGGACATCATCAAAGCAAAGAGCAGCGTGCGGATCCCCTTTGCTCCTTTGATCAGACGTAGGATTCGGCCAATCCTAGCAAGACGGATCACTCGGAACAGGGTAGGGGACACGAAATACTTTTCTATCAGCTCGGCAAGAAACATACCTATGAATAAACAATGAGAATACCAACCAGTGAAGAAATCATGCGTTAAAATAAACATATGT... | pathogenic | 45,218 |
The genetic variant at chromosome 2, position 165996039, affecting gene SCN1A: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Migraine,_familial_hemiplegic,_3', 'Seizure', 'Severe_myoclonic_epilepsy_in_infancy'] | GACATTTTGTTAAAAAAACAAACACACTTGGATAAAATGTATCAAAATATTTACAGTGATTATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCAT... | GACATTTTGTTAAAAAAACAAACACACTTGGATAAAATGTATCAAAATATTTACAGTGATTATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCAT... | pathogenic | 45,232 |
Does the variant on chromosome 2 at location 165996039 affecting gene SCN1A have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Severe_myoclonic_epilepsy_in_infancy'] | GACATTTTGTTAAAAAAACAAACACACTTGGATAAAATGTATCAAAATATTTACAGTGATTATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCAT... | GACATTTTGTTAAAAAAACAAACACACTTGGATAAAATGTATCAAAATATTTACAGTGATTATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCAT... | pathogenic | 45,233 |
Determine if the mutation at chromosome 2, position 165996045 in gene SCN1A is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic | TTGTTAAAAAAACAAACACACTTGGATAAAATGTATCAAAATATTTACAGTGATTATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCATCTGTTT... | TTGTTAAAAAAACAAACACACTTGGATAAAATGTATCAAAATATTTACAGTGATTATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCATCTGTTT... | pathogenic | 45,236 |
Does the genetic variant at chromosome 2, position 165996054, impacting gene SCN1A, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Severe_myoclonic_epilepsy_in_infancy'] | AAACAAACACACTTGGATAAAATGTATCAAAATATTTACAGTGATTATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCATCTGTTTCCACCATCA... | AAACAAACACACTTGGATAAAATGTATCAAAATATTTACAGTGATTATCTCTGATTGCTGGGATGATCTTGAATCTAATCTTGATTGTTTCAGCTTTCACTTTTATTTAACTGAATTTAAGAACTTTAAATATTTCTTACCTACAATGGAGAGAATGACAACCACAAAATCAAAAATATTCCATCCAATGGTAAAATAATAATGGCGTAGAGAGATGAGTTTCAGTACACACTCTCCAGTAAATAGCACAATGAACACCAGATTGATGCGTGACAAAATGGTAGTCACATATTCACTCTGGTCATCTGTTTCCACCATCA... | pathogenic | 45,239 |
Determine if the mutation at chromosome 2, position 165998051 in gene SCN1A is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Severe_myoclonic_epilepsy_in_infancy'] | TACTTCTTACTCCTGGTCGAGGTATAGGCTTTTGCGGTTTTTTCGATCCTAATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTA... | TACTTCTTACTCCTGGTCGAGGTATAGGCTTTTGCGGTTTTTTCGATCCTAATTTTTTCATTGCATTATAGTATTTCTTCTGTTCTTCTGTCATAAAGATGTCTTGACCTCCAAAGTATAGAAAAGAAAAATCAAACTGGTTAAAACTGTGTCCTTTTGTACATTTTTTTCAATGTTAAAATAGAAAATGGATGGCTAAAAAAAGAAATACAAAATTCAACTGATTAGTATAATTATATCTGGGATTTAAAATGTAAAAAAAATTGTACTCTTTAGGTATGATAATATTTAATTCCCTAAATAATTCAAAATTGACTTTA... | pathogenic | 45,250 |
Evaluate this variant at chromosome 2, position 166002510, gene SCN1A: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Severe_myoclonic_epilepsy_in_infancy'] | CAGGCTAACAACTTACAGTAATTTGTTACTTGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCC... | CAGGCTAACAACTTACAGTAATTTGTTACTTGTCCTGGGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCC... | pathogenic | 45,277 |
Chromosome 2, position 166002547, gene SCN1A: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | GGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAA... | GGGCATGAATTTTGAGTCCTGTGGGCCTAAAAGGATTATCCCTTAGCTAGTGAGGGAGGTTAGCAAAGCCTTTAGCGTCTGTATCACAATATATCTTTGTTCTGATAACGCTAACCCTTGTGAGGTGGTGGATTTCATGAGACAAAAGCTAAGCAAGGGTGTGGGTGACAGCAGTGAAAAGAAAGTAATGATTCCTAGCTAGAAAGTACAAGGCTTTTGTATATGAAAGAGAGAGAGATGTGTTAAATATGTCAGTGGCTTAGGTCAATGATAGAACAATTCCATTACACACTTGGTATAGAAACAAAAAAGTGATTCAA... | pathogenic | 45,283 |
For chromosome 2, position 166009745, gene SCN1A: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | AATGTTGCATAAAAGCACATGCTTTGAAAAAATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTAGTGCTG... | AATGTTGCATAAAAGCACATGCTTTGAAAAAATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTAGTGCTG... | pathogenic | 45,314 |
For chromosome 2, position 166009750, gene SCN1A: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | TGCATAAAAGCACATGCTTTGAAAAAATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTAGTGCTGTGTGT... | TGCATAAAAGCACATGCTTTGAAAAAATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTAGTGCTGTGTGT... | pathogenic | 45,315 |
Does the variant on chromosome 2 at location 166009775 affecting gene SCN1A have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Severe_myoclonic_epilepsy_in_infancy'] | AATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTAGTGCTGTGTGTATGTTGTCATTATGAGGAATAGAGC... | AATAACAGAACAACAAAAATAAAATGAGTGCCTGAGTTACGCTTTGACGCAGCTATTGTGATTTTATGCTGCTAGGGCAAAGAATTAAATGAGAGTTTCTGAGCATGTTCAAATCTCACTTCCCAATCATAATCATCATTCTTATATCCAACCTCACCATCATTCATGATTATATTTTTACAAAATAAAATATCCAAACACTAGAAGTATAAAAAATAGAATCAATTATAACGTTATTTTGACTCTACAATGCCAAACACGTATTGAAGAGATTAGTCATTTTAGTGCTGTGTGTATGTTGTCATTATGAGGAATAGAGC... | pathogenic | 45,319 |
Variant chromosome 2, position 166012150, gene SCN1A: benign or pathogenic? Disease(s)? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_6', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | AAGCAAAGTAAAAATTAGTAAAATAAAAGAAGAAATCAAGGTGGAAAAAAATTCATTGGCTATTCTTCCTTTATTTTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACTTAGAAAGAAATTCCATTACAAA... | AAGCAAAGTAAAAATTAGTAAAATAAAAGAAGAAATCAAGGTGGAAAAAAATTCATTGGCTATTCTTCCTTTATTTTATTAAGTTGCTGTTGAATTTAAGGCTTTTCTTGTAGCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACTTAGAAAGAAATTCCATTACAAA... | pathogenic | 45,328 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 166012262, gene SCN1A: what disease(s) if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy_6B', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | GCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACTTAGAAAGAAATTCCATTACAAAACTTCCTCAAAATTTTTTATACTAATTTATGGCTTCTGCCATGATATCTGGCCCCAAAGGGCCAATCAATGAATATTTACCAAATACACACAGCAATAAATTTACTTCATTT... | GCTAGTTATAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACTTAGAAAGAAATTCCATTACAAAACTTCCTCAAAATTTTTTATACTAATTTATGGCTTCTGCCATGATATCTGGCCCCAAAGGGCCAATCAATGAATATTTACCAAATACACACAGCAATAAATTTACTTCATTT... | pathogenic | 45,340 |
Variant at chromosome position 166012270, chromosome 2, gene SCN1A: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | TAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACTTAGAAAGAAATTCCATTACAAAACTTCCTCAAAATTTTTTATACTAATTTATGGCTTCTGCCATGATATCTGGCCCCAAAGGGCCAATCAATGAATATTTACCAAATACACACAGCAATAAATTTACTTCATTTGTATTCAT... | TAAAATACAAAAACTGCTGTTGTACTAAAAAAAGCAGGAAGTTTCTACTGTGCATCAGTATATTCAACTAATCATAATTGGTATTCTCAGAAATTAATGAACTACATCAGTTTTGAAGGTGATATTTTGTCTTGGTAATACCTTGCATTTTCACTTGTTTATTTTTACATAAGTAACTTAGAAAGAAATTCCATTACAAAACTTCCTCAAAATTTTTTATACTAATTTATGGCTTCTGCCATGATATCTGGCCCCAAAGGGCCAATCAATGAATATTTACCAAATACACACAGCAATAAATTTACTTCATTTGTATTCAT... | pathogenic | 45,343 |
Determine whether the variant at chromosome 2, position 166036050, in gene SCN1A is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Seizure'] | AGCCTTCATCTGATTCCTTAGGAAAACTCAAATAAACAAAGTCTGAACTGACATAATATCCAAATTAAAATTTCTGTAAAAAAGTCCACAATATTTGATAAAAACAGTCTATTTTTTTTTTGTCCTGAATCTATTTCCATAGACATGGAAATGTGACAGGATCTATCTACTATTACATCTCTGCACTATATTTCTTTCCCTTCTCTCATCAAACAAATCTGAATTAACTAAGCAGCTCTAATGCTAGGGTCAGGGCAGCTGCTTCCAGCTCCAATATTAGCCCCCTACTCCTAAAAGTGGAGGCTGACCTAGATTATTCA... | AGCCTTCATCTGATTCCTTAGGAAAACTCAAATAAACAAAGTCTGAACTGACATAATATCCAAATTAAAATTTCTGTAAAAAAGTCCACAATATTTGATAAAAACAGTCTATTTTTTTTTTGTCCTGAATCTATTTCCATAGACATGGAAATGTGACAGGATCTATCTACTATTACATCTCTGCACTATATTTCTTTCCCTTCTCTCATCAAACAAATCTGAATTAACTAAGCAGCTCTAATGCTAGGGTCAGGGCAGCTGCTTCCAGCTCCAATATTAGCCCCCTACTCCTAAAAGTGGAGGCTGACCTAGATTATTCA... | pathogenic | 45,381 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 166036099, gene SCN1A: what disease(s) if pathogenic? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | GACATAATATCCAAATTAAAATTTCTGTAAAAAAGTCCACAATATTTGATAAAAACAGTCTATTTTTTTTTTGTCCTGAATCTATTTCCATAGACATGGAAATGTGACAGGATCTATCTACTATTACATCTCTGCACTATATTTCTTTCCCTTCTCTCATCAAACAAATCTGAATTAACTAAGCAGCTCTAATGCTAGGGTCAGGGCAGCTGCTTCCAGCTCCAATATTAGCCCCCTACTCCTAAAAGTGGAGGCTGACCTAGATTATTCAGAGACTCATTATAAATACTTGAAGCATCTTTTAAGGGATATAGTCACTA... | GACATAATATCCAAATTAAAATTTCTGTAAAAAAGTCCACAATATTTGATAAAAACAGTCTATTTTTTTTTTGTCCTGAATCTATTTCCATAGACATGGAAATGTGACAGGATCTATCTACTATTACATCTCTGCACTATATTTCTTTCCCTTCTCTCATCAAACAAATCTGAATTAACTAAGCAGCTCTAATGCTAGGGTCAGGGCAGCTGCTTCCAGCTCCAATATTAGCCCCCTACTCCTAAAAGTGGAGGCTGACCTAGATTATTCAGAGACTCATTATAAATACTTGAAGCATCTTTTAAGGGATATAGTCACTA... | pathogenic | 45,383 |
Does the variant impacting SCN1A on chromosome 2, position 166036104, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | AATATCCAAATTAAAATTTCTGTAAAAAAGTCCACAATATTTGATAAAAACAGTCTATTTTTTTTTTGTCCTGAATCTATTTCCATAGACATGGAAATGTGACAGGATCTATCTACTATTACATCTCTGCACTATATTTCTTTCCCTTCTCTCATCAAACAAATCTGAATTAACTAAGCAGCTCTAATGCTAGGGTCAGGGCAGCTGCTTCCAGCTCCAATATTAGCCCCCTACTCCTAAAAGTGGAGGCTGACCTAGATTATTCAGAGACTCATTATAAATACTTGAAGCATCTTTTAAGGGATATAGTCACTAAATCA... | AATATCCAAATTAAAATTTCTGTAAAAAAGTCCACAATATTTGATAAAAACAGTCTATTTTTTTTTTGTCCTGAATCTATTTCCATAGACATGGAAATGTGACAGGATCTATCTACTATTACATCTCTGCACTATATTTCTTTCCCTTCTCTCATCAAACAAATCTGAATTAACTAAGCAGCTCTAATGCTAGGGTCAGGGCAGCTGCTTCCAGCTCCAATATTAGCCCCCTACTCCTAAAAGTGGAGGCTGACCTAGATTATTCAGAGACTCATTATAAATACTTGAAGCATCTTTTAAGGGATATAGTCACTAAATCA... | pathogenic | 45,384 |
Mutation found at chromosome 2 position 166036194, gene SCN1A: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | ATGGAAATGTGACAGGATCTATCTACTATTACATCTCTGCACTATATTTCTTTCCCTTCTCTCATCAAACAAATCTGAATTAACTAAGCAGCTCTAATGCTAGGGTCAGGGCAGCTGCTTCCAGCTCCAATATTAGCCCCCTACTCCTAAAAGTGGAGGCTGACCTAGATTATTCAGAGACTCATTATAAATACTTGAAGCATCTTTTAAGGGATATAGTCACTAAATCAAAAGAATGTCACATACCTGTGGTATCTTCCATGGACAACTATCAAAATGCAATGGACATGATGATATCTAATAGAATTGTATCTCTAATA... | ATGGAAATGTGACAGGATCTATCTACTATTACATCTCTGCACTATATTTCTTTCCCTTCTCTCATCAAACAAATCTGAATTAACTAAGCAGCTCTAATGCTAGGGTCAGGGCAGCTGCTTCCAGCTCCAATATTAGCCCCCTACTCCTAAAAGTGGAGGCTGACCTAGATTATTCAGAGACTCATTATAAATACTTGAAGCATCTTTTAAGGGATATAGTCACTAAATCAAAAGAATGTCACATACCTGTGGTATCTTCCATGGACAACTATCAAAATGCAATGGACATGATGATATCTAATAGAATTGTATCTCTAATA... | pathogenic | 45,386 |
For chromosome 2, position 166036300, gene SCN1A: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Severe_myoclonic_epilepsy_in_infancy'] | CAGGGCAGCTGCTTCCAGCTCCAATATTAGCCCCCTACTCCTAAAAGTGGAGGCTGACCTAGATTATTCAGAGACTCATTATAAATACTTGAAGCATCTTTTAAGGGATATAGTCACTAAATCAAAAGAATGTCACATACCTGTGGTATCTTCCATGGACAACTATCAAAATGCAATGGACATGATGATATCTAATAGAATTGTATCTCTAATAAAATGTCTTTAATGTATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAG... | CAGGGCAGCTGCTTCCAGCTCCAATATTAGCCCCCTACTCCTAAAAGTGGAGGCTGACCTAGATTATTCAGAGACTCATTATAAATACTTGAAGCATCTTTTAAGGGATATAGTCACTAAATCAAAAGAATGTCACATACCTGTGGTATCTTCCATGGACAACTATCAAAATGCAATGGACATGATGATATCTAATAGAATTGTATCTCTAATAAAATGTCTTTAATGTATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAG... | pathogenic | 45,390 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 166036369, gene SCN1A: what disease(s) if pathogenic? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | AGAGACTCATTATAAATACTTGAAGCATCTTTTAAGGGATATAGTCACTAAATCAAAAGAATGTCACATACCTGTGGTATCTTCCATGGACAACTATCAAAATGCAATGGACATGATGATATCTAATAGAATTGTATCTCTAATAAAATGTCTTTAATGTATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAG... | AGAGACTCATTATAAATACTTGAAGCATCTTTTAAGGGATATAGTCACTAAATCAAAAGAATGTCACATACCTGTGGTATCTTCCATGGACAACTATCAAAATGCAATGGACATGATGATATCTAATAGAATTGTATCTCTAATAAAATGTCTTTAATGTATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAG... | pathogenic | 45,394 |
Assess the variant on chromosome 2, position 166036482, impacting SCN1A (sodium voltage-gated channel alpha subunit 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | TGATGATATCTAATAGAATTGTATCTCTAATAAAATGTCTTTAATGTATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAGTAGGTTGCTATGGATTAAAGTTTTGTCTCCACAAAATTCATATGCTGAAGCTCTAACCTTCAATATGACTGTATTTGGGGATAGGGCCTGTAAGGTGGTGATAAAGGTTAAAT... | TGATGATATCTAATAGAATTGTATCTCTAATAAAATGTCTTTAATGTATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAGTAGGTTGCTATGGATTAAAGTTTTGTCTCCACAAAATTCATATGCTGAAGCTCTAACCTTCAATATGACTGTATTTGGGGATAGGGCCTGTAAGGTGGTGATAAAGGTTAAAT... | pathogenic | 45,397 |
Classify the chromosome 2 variant at position 166036529 affecting gene SCN1A (sodium voltage-gated channel alpha subunit 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Severe_myoclonic_epilepsy_in_infancy'] | ATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAGTAGGTTGCTATGGATTAAAGTTTTGTCTCCACAAAATTCATATGCTGAAGCTCTAACCTTCAATATGACTGTATTTGGGGATAGGGCCTGTAAGGTGGTGATAAAGGTTAAATGAGGTCATACAGGTTGGACTTTATTCTGATAGGGCTGGTGCACTTAT... | ATTCAATCCTTTAAAATATTTAGACTATACAGCCTAAAAGATGGGCACCCTGCTGTTTTTGAGATTTCCAAACACTAAATGGGAAGTAAAGGTGCTTTGTCCTAGACTCCTTGTTAATTATCTTATATATCCATTAGACTTTTAACTTAATATTTCAAAGTAGGTTGCTATGGATTAAAGTTTTGTCTCCACAAAATTCATATGCTGAAGCTCTAACCTTCAATATGACTGTATTTGGGGATAGGGCCTGTAAGGTGGTGATAAAGGTTAAATGAGGTCATACAGGTTGGACTTTATTCTGATAGGGCTGGTGCACTTAT... | pathogenic | 45,402 |
Variant chromosome 2, position 166037870, gene SCN1A (sodium voltage-gated channel alpha subunit 1): benign or pathogenic? Disease(s)? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | CCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACA... | CCCAGCATGAGAGTATATTGTACCACAAATTGCTAGCCTGGGAAAAGATCAAAATTCAAAATTTAGAGCATGGTTTCTAGTGAATGGCTATTGCTTTTGTATTATCATAAAGTAAAAAAAAAAAAAAATCTTAAGTCAAAACATCATTAAGCTGAGGATCATCTGTATGTGTGTATATGTATATATGTATATGTATTCATACCTTCCCACACCTATAGAATCTTACCTCTTTGCTTTCTTCCAGATCCGATTCACTACTAAAGTCTTCCGTGTTTAAATTTTCAAAGTCAGATTCTCCTACAGCAATTGGTACAGTCACA... | pathogenic | 45,424 |
Variant chromosome 2, position 166039403, gene SCN1A (sodium voltage-gated channel alpha subunit 1): benign or pathogenic? Disease(s)? | benign | CTGGATGGTAATTTTGCACTTTCTCTCTACTTTTTTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTT... | CTGGATGGTAATTTTGCACTTTCTCTCTACTTTTTTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTT... | benign | 45,457 |
Clinical classification of chromosome 2, position 166039420, gene SCN1A (sodium voltage-gated channel alpha subunit 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy_6B', 'Generalized_epilepsy_with_febrile_seizures_plus,_type_2', 'Migraine,_familial_hemiplegic,_3', 'Severe_myoclonic_epilepsy_in_infancy'] | ACTTTCTCTCTACTTTTTTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATG... | ACTTTCTCTCTACTTTTTTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATG... | pathogenic | 45,459 |
Is the variant located on chromosome 2 at position 166039442, gene SCN1A (sodium voltage-gated channel alpha subunit 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | ACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTA... | ACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTA... | pathogenic | 45,467 |
Gene SCN1A (sodium voltage-gated channel alpha subunit 1) variant at chromosome 2, position 166041294—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Severe_myoclonic_epilepsy_in_infancy'] | TTTTCATAAATAATTGAGAATTTTTTTCCATGTAGGAAAAGTTTTTGACAATGCAAATGTTACAGAAAAACTTACAATGCTAATGGTTGTGTGGCAAAAAAACTATGACATTGCTATGCAAGAACCCTGATTGTTAGAAAGGTTTTTGAATTTGGTGCTTTTTTTTTTTTTTTTTACCAATCGAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAGAA... | TTTTCATAAATAATTGAGAATTTTTTTCCATGTAGGAAAAGTTTTTGACAATGCAAATGTTACAGAAAAACTTACAATGCTAATGGTTGTGTGGCAAAAAAACTATGACATTGCTATGCAAGAACCCTGATTGTTAGAAAGGTTTTTGAATTTGGTGCTTTTTTTTTTTTTTTTTACCAATCGAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAGAA... | pathogenic | 45,479 |
Clinical classification of chromosome 2, position 166041476, gene SCN1A (sodium voltage-gated channel alpha subunit 1): benign or pathogenic? Disease(s) if pathogenic? | benign | GAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAGAAACATTTCTGCTGTAAAGATCCCAGTGAAAACCTAAGATCAAAACAAAATTAATCTAATTCCACCAGATAATAACATACATGACATAAGATTTGCTCTTAGAACATAATGCTTATGCTATTTTCCCACAATGATTCTATTACTAACTTAAATTTGTATGGCAATTTGTAGTTGATGAAAGACT... | GAAATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAGAAACATTTCTGCTGTAAAGATCCCAGTGAAAACCTAAGATCAAAACAAAATTAATCTAATTCCACCAGATAATAACATACATGACATAAGATTTGCTCTTAGAACATAATGCTTATGCTATTTTCCCACAATGATTCTATTACTAACTTAAATTTGTATGGCAATTTGTAGTTGATGAAAGACT... | benign | 45,490 |
A mutation at chromosome position 166041479 on chromosome 2 in gene SCN1A (sodium voltage-gated channel alpha subunit 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | ATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAGAAACATTTCTGCTGTAAAGATCCCAGTGAAAACCTAAGATCAAAACAAAATTAATCTAATTCCACCAGATAATAACATACATGACATAAGATTTGCTCTTAGAACATAATGCTTATGCTATTTTCCCACAATGATTCTATTACTAACTTAAATTTGTATGGCAATTTGTAGTTGATGAAAGACTTTC... | ATGAACGGAGAACAGATAATCCTTCCACATTGGCGAGTCCAAGTTCTACCAGGCTAAGCGTCACAATAAAACCGTCAAAGATATTCCAGCCTTCTTGGAAATAATAGTAAGGATCCATGGCAATAATTTTCAGAAACATTTCTGCTGTAAAGATCCCAGTGAAAACCTAAGATCAAAACAAAATTAATCTAATTCCACCAGATAATAACATACATGACATAAGATTTGCTCTTAGAACATAATGCTTATGCTATTTTCCCACAATGATTCTATTACTAACTTAAATTTGTATGGCAATTTGTAGTTGATGAAAGACTTTC... | benign | 45,492 |
Chromosome 2, position 166042428, gene SCN1A (sodium voltage-gated channel alpha subunit 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTATACTAGGTGCATTACTATTGTCATTCTTTGTTATGCACATGAAAAAAATAAATTTACTTCTGTAGTATAAATAGTAGAACTTCAAAAATATAACTAATAAAATGCAGGTTGTTATGCATGATGCTTTTGTTTTCTACCATCAAAAATCCTAAACTTCAAACCAAATATTACAGGAAATGCATAAATTACTTTAGATAGCTCTTTCCTTCAGCAAATAAAAGCTAGTATTCCTAAGTTGAGTTGACTGGCAAACACTTTAATAATTTATGTTTTTGAAGCACAAAAAGGAAAAATTAAGTGGCAATCTTCACCAAAAA... | TTATACTAGGTGCATTACTATTGTCATTCTTTGTTATGCACATGAAAAAAATAAATTTACTTCTGTAGTATAAATAGTAGAACTTCAAAAATATAACTAATAAAATGCAGGTTGTTATGCATGATGCTTTTGTTTTCTACCATCAAAAATCCTAAACTTCAAACCAAATATTACAGGAAATGCATAAATTACTTTAGATAGCTCTTTCCTTCAGCAAATAAAAGCTAGTATTCCTAAGTTGAGTTGACTGGCAAACACTTTAATAATTTATGTTTTTGAAGCACAAAAAGGAAAAATTAAGTGGCAATCTTCACCAAAAA... | benign | 45,502 |
Variant in gene SCN1A (sodium voltage-gated channel alpha subunit 1), located at chromosome 2 position 166043859: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | GAATGACTCTACATTGTCAACCTCAGACTATGAGAGCTAGAATAGGGATTGATGTGACCCAAGAATCATCTTTTTAGCTTGTTTTTATTTTGTGAAAATGACCTGCTCTTCCTCTACAATCTTGAGAGTACTTAGGATGAGGCTGAAAAGGGCTGTACTGCTGAAGTCTTAAACTAATGGAACAAAAAGAGGGTCACTATGACTAATGAGATTAGAAACCCCTAACAGAAATGCTTTGTTCTGCATTTTCAAAGAGTTGCTACACAGTTAGGAAAACATTCTTAGTCCCAATATCACTCATTTTAAAATAAATTGTTAAG... | GAATGACTCTACATTGTCAACCTCAGACTATGAGAGCTAGAATAGGGATTGATGTGACCCAAGAATCATCTTTTTAGCTTGTTTTTATTTTGTGAAAATGACCTGCTCTTCCTCTACAATCTTGAGAGTACTTAGGATGAGGCTGAAAAGGGCTGTACTGCTGAAGTCTTAAACTAATGGAACAAAAAGAGGGTCACTATGACTAATGAGATTAGAAACCCCTAACAGAAATGCTTTGTTCTGCATTTTCAAAGAGTTGCTACACAGTTAGGAAAACATTCTTAGTCCCAATATCACTCATTTTAAAATAAATTGTTAAG... | pathogenic | 45,511 |
Considering the variant on chromosome 2, location 166043903, involving gene SCN1A (sodium voltage-gated channel alpha subunit 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Seizure'] | GGGATTGATGTGACCCAAGAATCATCTTTTTAGCTTGTTTTTATTTTGTGAAAATGACCTGCTCTTCCTCTACAATCTTGAGAGTACTTAGGATGAGGCTGAAAAGGGCTGTACTGCTGAAGTCTTAAACTAATGGAACAAAAAGAGGGTCACTATGACTAATGAGATTAGAAACCCCTAACAGAAATGCTTTGTTCTGCATTTTCAAAGAGTTGCTACACAGTTAGGAAAACATTCTTAGTCCCAATATCACTCATTTTAAAATAAATTGTTAAGGCTTCTAGAATATCTGAGTAGATATAAGAAATAACAGCTCTTGA... | GGGATTGATGTGACCCAAGAATCATCTTTTTAGCTTGTTTTTATTTTGTGAAAATGACCTGCTCTTCCTCTACAATCTTGAGAGTACTTAGGATGAGGCTGAAAAGGGCTGTACTGCTGAAGTCTTAAACTAATGGAACAAAAAGAGGGTCACTATGACTAATGAGATTAGAAACCCCTAACAGAAATGCTTTGTTCTGCATTTTCAAAGAGTTGCTACACAGTTAGGAAAACATTCTTAGTCCCAATATCACTCATTTTAAAATAAATTGTTAAGGCTTCTAGAATATCTGAGTAGATATAAGAAATAACAGCTCTTGA... | pathogenic | 45,517 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 166045189, gene SCN1A (sodium voltage-gated channel alpha subunit 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | GTATTTGTGTCTCTTCATTTAATTTTGAGAAGACCTATATCAGCATTTTTTAGTAAGAAAAATATGAGTACTAGGAGTATTAAGGTAACAATGAAGCTATCTACTTAAGCAGTGTTTTTGAAAATCTAAACTAAAGCAGAGATCTTGAAGAATCCATTGGAAAGATTTATTACATACCCTTGACACTTAAACATAGAATCATTCATTTACTTTCATACCAGAGCCTTGGAGAATGTCCTGCTATCTAAATTCAGTGTGGGTATATAGCAAATCCTCCAACTGGAGGCAGTAATTATTGTGTCTAATCAATCCTTAGCACT... | GTATTTGTGTCTCTTCATTTAATTTTGAGAAGACCTATATCAGCATTTTTTAGTAAGAAAAATATGAGTACTAGGAGTATTAAGGTAACAATGAAGCTATCTACTTAAGCAGTGTTTTTGAAAATCTAAACTAAAGCAGAGATCTTGAAGAATCCATTGGAAAGATTTATTACATACCCTTGACACTTAAACATAGAATCATTCATTTACTTTCATACCAGAGCCTTGGAGAATGTCCTGCTATCTAAATTCAGTGTGGGTATATAGCAAATCCTCCAACTGGAGGCAGTAATTATTGTGTCTAATCAATCCTTAGCACT... | pathogenic | 45,535 |
Variant in SCN1A (sodium voltage-gated channel alpha subunit 1), chromosome 2, position 166045218—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Severe_myoclonic_epilepsy_in_infancy'] | AAGACCTATATCAGCATTTTTTAGTAAGAAAAATATGAGTACTAGGAGTATTAAGGTAACAATGAAGCTATCTACTTAAGCAGTGTTTTTGAAAATCTAAACTAAAGCAGAGATCTTGAAGAATCCATTGGAAAGATTTATTACATACCCTTGACACTTAAACATAGAATCATTCATTTACTTTCATACCAGAGCCTTGGAGAATGTCCTGCTATCTAAATTCAGTGTGGGTATATAGCAAATCCTCCAACTGGAGGCAGTAATTATTGTGTCTAATCAATCCTTAGCACTTTTAATAAGTAAATGCATTCAGGTTTGTG... | AAGACCTATATCAGCATTTTTTAGTAAGAAAAATATGAGTACTAGGAGTATTAAGGTAACAATGAAGCTATCTACTTAAGCAGTGTTTTTGAAAATCTAAACTAAAGCAGAGATCTTGAAGAATCCATTGGAAAGATTTATTACATACCCTTGACACTTAAACATAGAATCATTCATTTACTTTCATACCAGAGCCTTGGAGAATGTCCTGCTATCTAAATTCAGTGTGGGTATATAGCAAATCCTCCAACTGGAGGCAGTAATTATTGTGTCTAATCAATCCTTAGCACTTTTAATAAGTAAATGCATTCAGGTTTGTG... | pathogenic | 45,536 |
A genetic alteration at chromosome 2, position 166046843, in gene SCN1A (sodium voltage-gated channel alpha subunit 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Developmental_and_epileptic_encephalopathy_6B', 'Severe_myoclonic_epilepsy_in_infancy'] | AGTATCAGAATGACAGTCCAGTTCTCCTGACTGTCAACTTGGTGTTATCTTAACTACACCGAGCTGTAGACTTACATATCTGTGGAGTAAAGTTTTTGCATAACTATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCT... | AGTATCAGAATGACAGTCCAGTTCTCCTGACTGTCAACTTGGTGTTATCTTAACTACACCGAGCTGTAGACTTACATATCTGTGGAGTAAAGTTTTTGCATAACTATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCT... | pathogenic | 45,544 |
Chromosome 2, position 166046873, gene SCN1A (sodium voltage-gated channel alpha subunit 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_dominant_epilepsy', 'Inborn_genetic_diseases'] | CTGTCAACTTGGTGTTATCTTAACTACACCGAGCTGTAGACTTACATATCTGTGGAGTAAAGTTTTTGCATAACTATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTG... | CTGTCAACTTGGTGTTATCTTAACTACACCGAGCTGTAGACTTACATATCTGTGGAGTAAAGTTTTTGCATAACTATGTGAAGAAGGGATGGGTTTAAATATAACACAACAGTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTG... | pathogenic | 45,547 |
Does the genetic variant at chromosome 2, position 166046984, impacting gene SCN1A (sodium voltage-gated channel alpha subunit 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAACTTAGAGGCTTCAGA... | GTGGTTGATTCAGTTGATAAAAATTCCTGAGTCCATTTTCTAATTCTCCCCCTCTCTCCCATGTTTTAATTTTCAACCATGCATCAGTAAACTCAGCAGTGCCATACCTGGTGTGGGGAGGAGTACCTCTTTTCATATGTCAATCGGTTCCCTTCAATGGAGAAGCGAAAACCTTTCCTCCTGATGCTGTCCTCAGATTCAGATTTTTGGAATTCATCCTCATCTTTCTCTTCCCCACCAGACTGCTCTTTCTGTTTTCTTTTCTTCCTCCGATTTCTTCTTTCCTTAGCACTCTTGGAACTCAACTTAGAGGCTTCAGA... | benign | 45,564 |
Is the genetic mutation found on chromosome 2 at position 166047663, within the gene SCN1A (sodium voltage-gated channel alpha subunit 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Generalized_epilepsy_with_febrile_seizures_plus,_type_2', 'Severe_myoclonic_epilepsy_in_infancy'] | ATTCATTACTTTTTGGGATTTGATTTACTTTAAAAATTGGTATTTAATTAGTGTTGTTTTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCA... | ATTCATTACTTTTTGGGATTTGATTTACTTTAAAAATTGGTATTTAATTAGTGTTGTTTTCTTTTCTCCGAAAAAGAAACTCGAGTATGGAAGAAAAGCTGATGAGTTTAAGGCAGGGGAATGGGATAAGGACCTGAGGTCCTTTCTCTAGTTATTGAAATTGGATTGTCCAATACCCTCAAAATATTATTAATCCTATTTATGGACAGTTATAAAATCCCTTTCTCACCCATCCACAATATCCAGAAGAATGGGGAAGGGAGAATCAATAGTTTCTGCTGAGCAAGATAAGACATCCAGTTCTCCAAAAACTGTCCCCA... | pathogenic | 45,574 |
Is the variant located on chromosome 2 at position 166048884, gene SCN1A (sodium voltage-gated channel alpha subunit 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Severe_myoclonic_epilepsy_in_infancy'] | TGCTTCTTCCAAGGTGGCCTGATTCTGTTCCTCGTAGGCCATGGCCACCACAGCCAGGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGC... | TGCTTCTTCCAAGGTGGCCTGATTCTGTTCCTCGTAGGCCATGGCCACCACAGCCAGGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGC... | pathogenic | 45,594 |
Mutation found at chromosome 2 position 166048937, gene SCN1A (sodium voltage-gated channel alpha subunit 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Intellectual_disability', 'Obesity', 'Seizure'] | CCAGGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTATGCATTCACACTATGATTTCTATGGCAGAATTTTTGTATTCACCAAGAAT... | CCAGGATCAAATTTATTAGGTAGAATGAGCCCAAGAAAATGACCAATACAAAAAATATCATGTACGTTTTCCCAGCAGCACGTAATGTCTGCAAACAAAAATATCAGAATTATTTCTCAATATTATTTCACTAAGTGGTGGCTTCAACTTTCAATTTACTCATGTGTCTAGCAAAACTCAGATATAAATAGTAATTATGTTGGTCATAGCACCCTGTACTTTTTTTTTATTGTTTCTTTAACTTCAGCTTCTTCCTTCTCTTCTAGCTTATGCATTCACACTATGATTTCTATGGCAGAATTTTTGTATTCACCAAGAAT... | pathogenic | 45,602 |
Is chromosome 2, position 166051867, gene SCN1A (sodium voltage-gated channel alpha subunit 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | AATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGG... | AATCATTAATTATTTCTATATTAGTGTTTGTTTGAGACCGGGTAGCCTTTCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGG... | pathogenic | 45,623 |
Variant in SCN1A (sodium voltage-gated channel alpha subunit 1), chromosome 2, position 166051916—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Developmental_and_epileptic_encephalopathy_6B', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | TCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGA... | TCTGTAAAGTTTATTGAATGAATAAGTAAATAAAAGACAAAAAGAGAAAAACATGGAATTAAACAATCAATGTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGA... | pathogenic | 45,630 |
Regarding the variant found on chromosome 2 at position 166051987 in gene SCN1A (sodium voltage-gated channel alpha subunit 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['SCN1A_Seizure_Disorders', 'Severe_myoclonic_epilepsy_in_infancy'] | GTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTAACCTTAATGATCAGCCTTAACCTGAGGAAAATATAATTTTTCA... | GTTGGATTTTGTAAGAAGATATATTTTCTAGATGCTAAGTTTTCTGAGGAATTTATTCCATACATAGTTCTGTACAGGACACAGAAGCACATAAGGAAAAATATCATTTTTATTTCTAATATTCTGACTTCCTTGAACCTAGACAGGAAAGTTGACATAGTATTTCCTAACTTTCAATTAAAATTAAACAAAGAGAAAGGACTATAATAGTTTCTGGATGAATTTTTGATATCTCATATTTATAAATGAAGTTTTGCCCATTAAATTCAATGATCTAACCTTAATGATCAGCCTTAACCTGAGGAAAATATAATTTTTCA... | pathogenic | 45,636 |
A genetic variant at chromosome 2, position 166054630, affecting gene SCN1A (sodium voltage-gated channel alpha subunit 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GGAGCAAATTCTCGATAAAACTAACATGGTGAAAAAAAAAAAAACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTC... | GGAGCAAATTCTCGATAAAACTAACATGGTGAAAAAAAAAAAAACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTC... | benign | 45,659 |
The mutation in gene SCN1A (sodium voltage-gated channel alpha subunit 1) at chromosome 2, position 166054635—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | AAATTCTCGATAAAACTAACATGGTGAAAAAAAAAAAAACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGC... | AAATTCTCGATAAAACTAACATGGTGAAAAAAAAAAAAACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGC... | pathogenic | 45,660 |
Is the variant located on chromosome 2 at position 166054636, gene SCN1A (sodium voltage-gated channel alpha subunit 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Developmental_and_epileptic_encephalopathy_6B', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Generalized_epilepsy_with_febrile_seizures_plus,_type_2', 'Migraine,_familial_hemiplegic,_3', 'Severe_myoclonic_epilepsy_in_infancy'] | AATTCTCGATAAAACTAACATGGTGAAAAAAAAAAAAACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCC... | AATTCTCGATAAAACTAACATGGTGAAAAAAAAAAAAACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCC... | pathogenic | 45,661 |
Mutation at chromosome 2, position 166054673, within SCN1A (sodium voltage-gated channel alpha subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy_6B', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | ACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAACTCTGTGACGTACC... | ACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAACTCTGTGACGTACC... | pathogenic | 45,667 |
Does the chromosome 2 mutation at position 166054690 within gene SCN1A (sodium voltage-gated channel alpha subunit 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | GTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAACTCTGTGACGTACCTGTAATAGGGAGTTCAC... | GTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCTGAATGTTCTCAATGCCGAGACATTGCCCAGGTCCACAAACTCTGTGACGTACCTGTAATAGGGAGTTCAC... | pathogenic | 45,669 |
The chromosome 2, position 166056453 genetic variant in gene SCN1A (sodium voltage-gated channel alpha subunit 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | AAATTTTCTGACTGATGCTACGTGTGAAAATTGTAGTTTTCAACTACTGCAAAGCCTTCATGCTATAGTGAAATTCCACTTAGACCTTTGTTGTGCTAAATTGAAATCCAGAGTTTGAATGTATAAATCACACCAAAATATTCTACAGGTAAAGCAAACCTATTCTTAAAAGCATAAGCACTGATGGAAAACCAAACTATGTTCTCTCTTAAAGTTTCAAAAAAGGCACTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATAATT... | AAATTTTCTGACTGATGCTACGTGTGAAAATTGTAGTTTTCAACTACTGCAAAGCCTTCATGCTATAGTGAAATTCCACTTAGACCTTTGTTGTGCTAAATTGAAATCCAGAGTTTGAATGTATAAATCACACCAAAATATTCTACAGGTAAAGCAAACCTATTCTTAAAAGCATAAGCACTGATGGAAAACCAAACTATGTTCTCTCTTAAAGTTTCAAAAAAGGCACTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATAATT... | pathogenic | 45,681 |
A mutation at chromosome position 166058629 on chromosome 2 in gene SCN1A (sodium voltage-gated channel alpha subunit 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic | AACTGCAGCTTAGCCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTT... | AACTGCAGCTTAGCCAAAATTCAGGGATAAATGCATTGTGGGCAAGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTT... | pathogenic | 45,697 |
Is the variant located on chromosome 2 at position 166058673, gene SCN1A (sodium voltage-gated channel alpha subunit 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | AGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAATATTGTAATTTCTTAAACACAT... | AGTCTTCTAATCTCCTTACATTTCAATTTCTTCATGTGTAAAATGTGGGTAATAATATCACCTTCACTGAGTATTTGTATAGATTAAATGAGGTAATGTATATGAAAGCATTATATCAGTATAAGGTGTTGTTTTTACAACTATTATTAAATCAATATATTCACCTCCCAGAGAACTTCAGTGGGAAGACTATTTTTGTGCTACCTGGAGTTGCACAGTTTTTCAGCAGAAAGTATTGACTTGAGCTCATTCAGGTGAATAAACTAGTAAATTGTTGAGGAAGGCCACTTATCTGCAATATTGTAATTTCTTAAACACAT... | pathogenic | 45,702 |
Chromosome 2, position 166073350, gene SCN1A (sodium voltage-gated channel alpha subunit 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Severe_myoclonic_epilepsy_in_infancy'] | AATAAAGTGCAACTTTTCTCATAACTTAAATGGCAGTTATGAGATTAATAATCTCTTATCAACTAAGATTTGACAATATGGTGTTCAAAAGCAAAGTTAGAGGAAAATGAAATACATGGAAAATGATCCATCCCTTCCTCTACTGTAAAATGAATAGATCAGTTTTTAAAAAGGGGAAATATGTAGTGATTCCTAAAGTAAATCCTAGTACCACTGTCAACTGATAATTTTAAATGTAATTTAGATTTGTAGATGGTGTAACATTAAAGTTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGT... | AATAAAGTGCAACTTTTCTCATAACTTAAATGGCAGTTATGAGATTAATAATCTCTTATCAACTAAGATTTGACAATATGGTGTTCAAAAGCAAAGTTAGAGGAAAATGAAATACATGGAAAATGATCCATCCCTTCCTCTACTGTAAAATGAATAGATCAGTTTTTAAAAAGGGGAAATATGTAGTGATTCCTAAAGTAAATCCTAGTACCACTGTCAACTGATAATTTTAAATGTAATTTAGATTTGTAGATGGTGTAACATTAAAGTTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGT... | pathogenic | 45,708 |
Clinically, how would you classify the variant at chromosome 2, position 166073480, gene SCN1A (sodium voltage-gated channel alpha subunit 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Developmental_and_epileptic_encephalopathy_6B', 'Generalized_epilepsy_with_febrile_seizures_plus,_type_2', 'Migraine,_familial_hemiplegic,_3', 'Severe_myoclonic_epilepsy_in_infancy'] | TCCCTTCCTCTACTGTAAAATGAATAGATCAGTTTTTAAAAAGGGGAAATATGTAGTGATTCCTAAAGTAAATCCTAGTACCACTGTCAACTGATAATTTTAAATGTAATTTAGATTTGTAGATGGTGTAACATTAAAGTTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCCGGTGGATCACGAGGTCAGGAGATCGAGTCCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAATTACAGAAAATTAGCCGGGCG... | TCCCTTCCTCTACTGTAAAATGAATAGATCAGTTTTTAAAAAGGGGAAATATGTAGTGATTCCTAAAGTAAATCCTAGTACCACTGTCAACTGATAATTTTAAATGTAATTTAGATTTGTAGATGGTGTAACATTAAAGTTGTATAATGTTTAAAAAAAAAAAAAAAGGAAAATACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCCGGTGGATCACGAGGTCAGGAGATCGAGTCCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAATTACAGAAAATTAGCCGGGCG... | pathogenic | 45,719 |
Benign or pathogenic: chromosome 2, position 166199287, gene SCN9A variant? Disease(s) if pathogenic? | pathogenic; ['Channelopathy-associated_congenital_insensitivity_to_pain,_autosomal_recessive', 'Generalized_epilepsy_with_febrile_seizures_plus,_type_7', 'Inborn_genetic_diseases', 'Neuropathy,_hereditary_sensory_and_autonomic,_type_2A'] | AAAAAAGCATTATGGTTATTTCTTTTCAAATTACTATTAATAGGTGTTTTCAAAAAACTAGATGTCTACAGCTAATGCAAAATGAATATGTGCTTGATAAATTAGAAGCCCATGGTACTGTGTTGATTGAGGCAAAATATATTTCACATCATAGAATTTTAAGGAGAAGGTGACATCTTCCTCATTGTATACATTGAAGTATATCCAAAAAAGATTACTTCCATAATTTAGGAAAGTAAGTTGGTGGCAAGAGAGCAAGTTGGCAAGAATCCCTATTTCAATGCTTTTTTATTCATACTAAACACATATCTGTGTAAAGT... | AAAAAAGCATTATGGTTATTTCTTTTCAAATTACTATTAATAGGTGTTTTCAAAAAACTAGATGTCTACAGCTAATGCAAAATGAATATGTGCTTGATAAATTAGAAGCCCATGGTACTGTGTTGATTGAGGCAAAATATATTTCACATCATAGAATTTTAAGGAGAAGGTGACATCTTCCTCATTGTATACATTGAAGTATATCCAAAAAAGATTACTTCCATAATTTAGGAAAGTAAGTTGGTGGCAAGAGAGCAAGTTGGCAAGAATCCCTATTTCAATGCTTTTTTATTCATACTAAACACATATCTGTGTAAAGT... | pathogenic | 45,744 |
Does the variant on chromosome 2 at location 166204470 affecting gene SCN9A have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TAACATCTATATGTCTTAATATTTTGCAGAATAAGCCACCTCTTGTCACCCTAATTTTCTTCCAGATGAATTTAGAATCATTTAGACTTATATTGTTTTTGTCTATTTATTACCCACACTACATAAAAAGACTCATTGATATTTTCCTTGAATTTATAGATTAATAAATTTGAAAGTCTTAATTACAATGAGAGAAGCTTATCTAAGTACATGACAATCCTTTCAATTATTTTAGCTTTCTTTTATATCCTAAAGTTTTCTTCAGAAGTCTCATATGATAAAGTTATTATTAGATAATTTACTTTATTTTTATTGCAATT... | TAACATCTATATGTCTTAATATTTTGCAGAATAAGCCACCTCTTGTCACCCTAATTTTCTTCCAGATGAATTTAGAATCATTTAGACTTATATTGTTTTTGTCTATTTATTACCCACACTACATAAAAAGACTCATTGATATTTTCCTTGAATTTATAGATTAATAAATTTGAAAGTCTTAATTACAATGAGAGAAGCTTATCTAAGTACATGACAATCCTTTCAATTATTTTAGCTTTCTTTTATATCCTAAAGTTTTCTTCAGAAGTCTCATATGATAAAGTTATTATTAGATAATTTACTTTATTTTTATTGCAATT... | benign | 45,766 |
Clinical classification of chromosome 2, position 166204480, gene SCN9A: benign or pathogenic? Disease(s) if pathogenic? | benign | ATGTCTTAATATTTTGCAGAATAAGCCACCTCTTGTCACCCTAATTTTCTTCCAGATGAATTTAGAATCATTTAGACTTATATTGTTTTTGTCTATTTATTACCCACACTACATAAAAAGACTCATTGATATTTTCCTTGAATTTATAGATTAATAAATTTGAAAGTCTTAATTACAATGAGAGAAGCTTATCTAAGTACATGACAATCCTTTCAATTATTTTAGCTTTCTTTTATATCCTAAAGTTTTCTTCAGAAGTCTCATATGATAAAGTTATTATTAGATAATTTACTTTATTTTTATTGCAATTGTGAATCAGA... | ATGTCTTAATATTTTGCAGAATAAGCCACCTCTTGTCACCCTAATTTTCTTCCAGATGAATTTAGAATCATTTAGACTTATATTGTTTTTGTCTATTTATTACCCACACTACATAAAAAGACTCATTGATATTTTCCTTGAATTTATAGATTAATAAATTTGAAAGTCTTAATTACAATGAGAGAAGCTTATCTAAGTACATGACAATCCTTTCAATTATTTTAGCTTTCTTTTATATCCTAAAGTTTTCTTCAGAAGTCTCATATGATAAAGTTATTATTAGATAATTTACTTTATTTTTATTGCAATTGTGAATCAGA... | benign | 45,768 |
Considering the variant on chromosome 2, location 166233474, involving gene SCN9A, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AGTGAAGATTTGGTAGGCTGAAAGATCTCTAATGTTCACTTGAGGCTGGTTAAAACCCAAGTTTCTTATCCCCATCCTGGAGTTTCTGACTCAGTAGGTCTGGGGTGAGATCCAAGAATTTGCTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTCTGTTCCCCAGGCTGGAGTGCAGTTGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCTAGTAGCTGAGACTACAGGTGAGCACCACTATGCCCGGGTAATTTTTTGCATTTTTAGTAGAGATGGGG... | AGTGAAGATTTGGTAGGCTGAAAGATCTCTAATGTTCACTTGAGGCTGGTTAAAACCCAAGTTTCTTATCCCCATCCTGGAGTTTCTGACTCAGTAGGTCTGGGGTGAGATCCAAGAATTTGCTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTCTGTTCCCCAGGCTGGAGTGCAGTTGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCTAGTAGCTGAGACTACAGGTGAGCACCACTATGCCCGGGTAATTTTTTGCATTTTTAGTAGAGATGGGG... | benign | 45,786 |
Mutation at chromosome 2, position 166276969, within SCN9A: benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AACCTTATTGGTAGAACTCATCACTTCTTCCTTGTCTGATAACTTTTGTGTTCCACTTTTCTGTGCCCTAATAAGCATCTTAAAAACAAGGATTAGACCATGGGTAATTGGTTTTGGTCTTCCACCCTAAATAATACCTAAACAATGCCTTCCTATCTAAACAATACCTAAATACCTTTCTTTTCACAGAGAAGATACTAAAAAATATTGAGTGGAAAATGTGGTGAGAGCCAAGGGAATGCCTTTCCCTTTGAATTTGCCTGAATAAATAATAAACATTTAAATTATTTGTGATTATTGGCTTTGATGTGGCATGTTTT... | AACCTTATTGGTAGAACTCATCACTTCTTCCTTGTCTGATAACTTTTGTGTTCCACTTTTCTGTGCCCTAATAAGCATCTTAAAAACAAGGATTAGACCATGGGTAATTGGTTTTGGTCTTCCACCCTAAATAATACCTAAACAATGCCTTCCTATCTAAACAATACCTAAATACCTTTCTTTTCACAGAGAAGATACTAAAAAATATTGAGTGGAAAATGTGGTGAGAGCCAAGGGAATGCCTTTCCCTTTGAATTTGCCTGAATAAATAATAAACATTTAAATTATTTGTGATTATTGGCTTTGATGTGGCATGTTTT... | benign | 45,805 |
Determine whether the variant at chromosome 2, position 166276970, in gene SCN9A is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | ACCTTATTGGTAGAACTCATCACTTCTTCCTTGTCTGATAACTTTTGTGTTCCACTTTTCTGTGCCCTAATAAGCATCTTAAAAACAAGGATTAGACCATGGGTAATTGGTTTTGGTCTTCCACCCTAAATAATACCTAAACAATGCCTTCCTATCTAAACAATACCTAAATACCTTTCTTTTCACAGAGAAGATACTAAAAAATATTGAGTGGAAAATGTGGTGAGAGCCAAGGGAATGCCTTTCCCTTTGAATTTGCCTGAATAAATAATAAACATTTAAATTATTTGTGATTATTGGCTTTGATGTGGCATGTTTTC... | ACCTTATTGGTAGAACTCATCACTTCTTCCTTGTCTGATAACTTTTGTGTTCCACTTTTCTGTGCCCTAATAAGCATCTTAAAAACAAGGATTAGACCATGGGTAATTGGTTTTGGTCTTCCACCCTAAATAATACCTAAACAATGCCTTCCTATCTAAACAATACCTAAATACCTTTCTTTTCACAGAGAAGATACTAAAAAATATTGAGTGGAAAATGTGGTGAGAGCCAAGGGAATGCCTTTCCCTTTGAATTTGCCTGAATAAATAATAAACATTTAAATTATTTGTGATTATTGGCTTTGATGTGGCATGTTTTC... | benign | 45,806 |
Is the genetic variant on chromosome 2, position 166278198, gene SCN9A, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Channelopathy-associated_congenital_insensitivity_to_pain,_autosomal_recessive', 'Generalized_epilepsy_with_febrile_seizures_plus,_type_7', 'Neuropathy,_hereditary_sensory_and_autonomic,_type_2A'] | TAAGGAAGAAAAAAAATAAAAAAAAAGTACAAGCCAAGAAAACACTAATTCAAAAAGTAGGCAGATTGCTATGTCCACGCGATGCTATAGGCCAGTGGCTGGAAAACTTTTTCGTAAAGGGCCAAATGATAAATATTTTAGACTTTATTGGGCATACGATTTCTATGGCAGCTATTCACCTCTGCCACTGTAATGTAAAAGCAGTCATAGAAGATACGTAAATGAATTGACATTCCTATGTTTGAATAAAGTTTATGAACACTAAAATTTGCATTTCATATAATGTGCATGTGTCATTTATTCTTCTTTTGATTATTTTA... | TAAGGAAGAAAAAAAATAAAAAAAAAGTACAAGCCAAGAAAACACTAATTCAAAAAGTAGGCAGATTGCTATGTCCACGCGATGCTATAGGCCAGTGGCTGGAAAACTTTTTCGTAAAGGGCCAAATGATAAATATTTTAGACTTTATTGGGCATACGATTTCTATGGCAGCTATTCACCTCTGCCACTGTAATGTAAAAGCAGTCATAGAAGATACGTAAATGAATTGACATTCCTATGTTTGAATAAAGTTTATGAACACTAAAATTTGCATTTCATATAATGTGCATGTGTCATTTATTCTTCTTTTGATTATTTTA... | pathogenic | 45,823 |
Is chromosome 2, position 166280495, gene SCN9A variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Generalized_epilepsy_with_febrile_seizures_plus,_type_7', 'Neuropathy,_hereditary_sensory_and_autonomic,_type_2A'] | ATCTAACTTAGTCCTGTAAATTAGGTATTGCTCTTCCCTGGCTCCCATATCAGCATCAAAAGGTTGAAAAGCTCTAACTGTCCTGTCAGTGCTCATCATTTTTAGACAGCATTTTAGAATAGCATATTAAAATTTCAGAAGAGTAAAACATTTGGTAATTGACACAGTCACTATTTTCAAAGAATTTATGTGGGTCAAAAAGTTGTTCTGGAAGAAGATAAAAAGAAAACATAAGTTGATACTGAAATTTTGAGCCAGTCTTTTTTTTTCTGATCTGACTACTGTTAGAGTAATAAAGAACATGTTGACTCACTCTTTAA... | ATCTAACTTAGTCCTGTAAATTAGGTATTGCTCTTCCCTGGCTCCCATATCAGCATCAAAAGGTTGAAAAGCTCTAACTGTCCTGTCAGTGCTCATCATTTTTAGACAGCATTTTAGAATAGCATATTAAAATTTCAGAAGAGTAAAACATTTGGTAATTGACACAGTCACTATTTTCAAAGAATTTATGTGGGTCAAAAAGTTGTTCTGGAAGAAGATAAAAAGAAAACATAAGTTGATACTGAAATTTTGAGCCAGTCTTTTTTTTTCTGATCTGACTACTGTTAGAGTAATAAAGAACATGTTGACTCACTCTTTAA... | pathogenic | 45,833 |
Regarding the variant found on chromosome 2 at position 166281810 in gene SCN9A: is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TCCTCCCAAGAATATGATAAATGAAATACAGTTACAATTATATTATAAATAATTATTTTATAATGAAGTATTATTTTATAAATGATAAAATTAAATACTACAGAGTTAAAATATTTGTCCAAGGGCATATCACTCATATAATGCAGAATCAGCATTCAAACCCAGGACTTTGGGACTCTGAGGACCCAAACACTTCACTACTATTATGTCAAAGCAATACATCCATAGGTTTTCTGAAAATATGTGAGGTGTGTACTTACAAGAAAGCAGCAATGTAATTAGGAAGGTGTGAGAAAGAACCAAAAATGTTAAGTGTTGCT... | TCCTCCCAAGAATATGATAAATGAAATACAGTTACAATTATATTATAAATAATTATTTTATAATGAAGTATTATTTTATAAATGATAAAATTAAATACTACAGAGTTAAAATATTTGTCCAAGGGCATATCACTCATATAATGCAGAATCAGCATTCAAACCCAGGACTTTGGGACTCTGAGGACCCAAACACTTCACTACTATTATGTCAAAGCAATACATCCATAGGTTTTCTGAAAATATGTGAGGTGTGTACTTACAAGAAAGCAGCAATGTAATTAGGAAGGTGTGAGAAAGAACCAAAAATGTTAAGTGTTGCT... | benign | 45,841 |
Regarding the variant found on chromosome 2 at position 166281810 in gene SCN9A: is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TCCTCCCAAGAATATGATAAATGAAATACAGTTACAATTATATTATAAATAATTATTTTATAATGAAGTATTATTTTATAAATGATAAAATTAAATACTACAGAGTTAAAATATTTGTCCAAGGGCATATCACTCATATAATGCAGAATCAGCATTCAAACCCAGGACTTTGGGACTCTGAGGACCCAAACACTTCACTACTATTATGTCAAAGCAATACATCCATAGGTTTTCTGAAAATATGTGAGGTGTGTACTTACAAGAAAGCAGCAATGTAATTAGGAAGGTGTGAGAAAGAACCAAAAATGTTAAGTGTTGCT... | TCCTCCCAAGAATATGATAAATGAAATACAGTTACAATTATATTATAAATAATTATTTTATAATGAAGTATTATTTTATAAATGATAAAATTAAATACTACAGAGTTAAAATATTTGTCCAAGGGCATATCACTCATATAATGCAGAATCAGCATTCAAACCCAGGACTTTGGGACTCTGAGGACCCAAACACTTCACTACTATTATGTCAAAGCAATACATCCATAGGTTTTCTGAAAATATGTGAGGTGTGTACTTACAAGAAAGCAGCAATGTAATTAGGAAGGTGTGAGAAAGAACCAAAAATGTTAAGTGTTGCT... | benign | 45,842 |
Variant in gene SCN9A, located at chromosome 2 position 166284837: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | ATGTGAACAGACACACCCATTTGAGAGATCTCTGTAAAAAGTCAACTTTTTGAAAAGTCTCGAAAACCAGGTTTTCTGTGCTATAGTCTGTCAAACAAGAATTTGTCAGATTAAACAAATTATTTTCCATGTAGACATGTTTCAGGTATAGAGATGACGTTATTAGTTATGCAGTGTTTTCATATAAACCATATATTGTGCCACAATTTTATGTTTACTGTATTTCCATTGTATCTTATAAGTATCCACTAATTCCTCTAGTTTTGTAGTTTTCACTTTAGGATTTATTGTGATACTGATTTTTCTATGGTGAAAAAACT... | ATGTGAACAGACACACCCATTTGAGAGATCTCTGTAAAAAGTCAACTTTTTGAAAAGTCTCGAAAACCAGGTTTTCTGTGCTATAGTCTGTCAAACAAGAATTTGTCAGATTAAACAAATTATTTTCCATGTAGACATGTTTCAGGTATAGAGATGACGTTATTAGTTATGCAGTGTTTTCATATAAACCATATATTGTGCCACAATTTTATGTTTACTGTATTTCCATTGTATCTTATAAGTATCCACTAATTCCTCTAGTTTTGTAGTTTTCACTTTAGGATTTATTGTGATACTGATTTTTCTATGGTGAAAAAACT... | benign | 45,846 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 166304313, gene SCN9A (sodium voltage-gated channel alpha subunit 9). What disease(s) is it linked to if pathogenic? | pathogenic; ['Generalized_epilepsy_with_febrile_seizures_plus,_type_7', 'Neuropathy,_hereditary_sensory_and_autonomic,_type_2A'] | CAATATTCATCAACCGTTCCAGTGAGAGACACCATGCTAGGGGATAATTGTTTAGAGAACATTCAATTCATGCTTTATGTAAGAAACTCTAATTGATACTTCTGAATTAAGCAGACTTCTGAGAGTGCATACAGATGATCTCATGTGGTACCTACAGAAATAATTCTACTGAACTAAACTTTGATATCTTGCCATCAGCCTATATTGAAGGAAGCCATTAAAAACAGCTATGAAACTCGTCATTGGTTACAAAGTGGATGTTGATAAAGCTGAGCAAATGATTTTGCTTTGTACAAATCTTTAGGAATACTATCAAGATA... | CAATATTCATCAACCGTTCCAGTGAGAGACACCATGCTAGGGGATAATTGTTTAGAGAACATTCAATTCATGCTTTATGTAAGAAACTCTAATTGATACTTCTGAATTAAGCAGACTTCTGAGAGTGCATACAGATGATCTCATGTGGTACCTACAGAAATAATTCTACTGAACTAAACTTTGATATCTTGCCATCAGCCTATATTGAAGGAAGCCATTAAAAACAGCTATGAAACTCGTCATTGGTTACAAAGTGGATGTTGATAAAGCTGAGCAAATGATTTTGCTTTGTACAAATCTTTAGGAATACTATCAAGATA... | pathogenic | 45,875 |
Does the genetic variant at chromosome 2, position 168923783, impacting gene ABCB11 (ATP binding cassette subfamily B member 11), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_2', 'Progressive_familial_intrahepatic_cholestasis_type_2'] | CCTGGGGAAGCTCTGATCGAGTGGGTGCTTGTTGGTTGACAGGTGGGCTTCATAGAAGGGTAATACGGCTGGAAAATTTTCTTAGGATTCCAAGGACGGAGTCCTTGACCTCTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT... | CCTGGGGAAGCTCTGATCGAGTGGGTGCTTGTTGGTTGACAGGTGGGCTTCATAGAAGGGTAATACGGCTGGAAAATTTTCTTAGGATTCCAAGGACGGAGTCCTTGACCTCTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT... | pathogenic | 45,964 |
The mutation in gene ABCB11 (ATP binding cassette subfamily B member 11) at chromosome 2, position 168924761—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Progressive_familial_intrahepatic_cholestasis_type_2'] | TTTTGAGGGAGCAGGGGCAAATGAGTGCTTTTCTGCCATATTTACTTGCTTTTTTGTATAAAACCTTATGAAACTACAGCAAAGTAAAATGCGCTATTTTCATTTCATGAATATAATTTCACAGAAACTAAAAACAACAATCAGTATGCAGGGAGGTGCTGAGGAGTAAAAGGCCTGGGAGAGAGTCCCTGCTCCAGCCACACTGGTAGGTCCTCACAGTAATGGTAGCATCACCACCCCTACACTCACTCTGAAGTTAAAGCATAAATCAACAGCCCTAACTGGAAAGCTCATGCTAATACTTTCCCTTTCTGCCTCCC... | TTTTGAGGGAGCAGGGGCAAATGAGTGCTTTTCTGCCATATTTACTTGCTTTTTTGTATAAAACCTTATGAAACTACAGCAAAGTAAAATGCGCTATTTTCATTTCATGAATATAATTTCACAGAAACTAAAAACAACAATCAGTATGCAGGGAGGTGCTGAGGAGTAAAAGGCCTGGGAGAGAGTCCCTGCTCCAGCCACACTGGTAGGTCCTCACAGTAATGGTAGCATCACCACCCCTACACTCACTCTGAAGTTAAAGCATAAATCAACAGCCCTAACTGGAAAGCTCATGCTAATACTTTCCCTTTCTGCCTCCC... | pathogenic | 45,974 |
Regarding the variant found on chromosome 2 at position 168927282 in gene ABCB11 (ATP binding cassette subfamily B member 11): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_2', 'Progressive_familial_intrahepatic_cholestasis_type_2'] | TTCTGGAACACAGGCTTTGGTTAGAAGCTCCACTCTGCTGCTTACTAGCTTGTGTTCATGAACAAATTATTTAAATTTTTTTGAGCTGGCTAGGCATCTGAGGTGCAGTATTAACACTTACTTCACATATTTATTGTGAGTTTTAGAGAAAATTAGGAAGAAAAAATCACTCATGCCTGGCATGGCTACATAAAAATTAGTTAACATTCATAGAGTGTTTACCATAGAGGTATTGTGCTAACTATTCTAGCTAGGGTATCATTTAATATTCACAGAAACCATACCCACACTATTTTTTAGATTACAAAACTTAGGCACAG... | TTCTGGAACACAGGCTTTGGTTAGAAGCTCCACTCTGCTGCTTACTAGCTTGTGTTCATGAACAAATTATTTAAATTTTTTTGAGCTGGCTAGGCATCTGAGGTGCAGTATTAACACTTACTTCACATATTTATTGTGAGTTTTAGAGAAAATTAGGAAGAAAAAATCACTCATGCCTGGCATGGCTACATAAAAATTAGTTAACATTCATAGAGTGTTTACCATAGAGGTATTGTGCTAACTATTCTAGCTAGGGTATCATTTAATATTCACAGAAACCATACCCACACTATTTTTTAGATTACAAAACTTAGGCACAG... | pathogenic | 45,981 |
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