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 |
|---|---|---|---|---|---|
Benign or pathogenic: chromosome 19, position 46756616, gene FKRP (fukutin related protein) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | TGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCAT... | TGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCAT... | pathogenic | 306,972 |
Evaluate this variant at chromosome 19, position 46756635, gene FKRP (fukutin related protein): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cardiovascular_phenotype', 'Walker-Warburg_congenital_muscular_dystrophy'] | TAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCT... | TAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCT... | pathogenic | 306,976 |
A genetic alteration at chromosome 19, position 46756653, in gene FKRP (fukutin related protein)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Muscular_dystrophy-dystroglycanopathy_type_B5', 'Walker-Warburg_congenital_muscular_dystrophy'] | TATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTT... | TATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTT... | pathogenic | 306,977 |
A mutation at chromosome position 46756704 on chromosome 19 in gene FKRP (fukutin related protein): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Walker-Warburg_congenital_muscular_dystrophy'] | GAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATA... | GAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATA... | pathogenic | 306,981 |
A mutation at chromosome position 46756712 on chromosome 19 in gene FKRP (fukutin related protein): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | TGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACAT... | TGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACAT... | pathogenic | 306,982 |
Mutation found at chromosome 19 position 46756719, gene FKRP (fukutin related protein): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | ATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGT... | ATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGT... | pathogenic | 306,985 |
Gene FKRP (fukutin related protein) variant at chromosome position 46756784 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | GCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAA... | GCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAA... | pathogenic | 306,991 |
A genetic variant on chromosome 19, position 46756784, affects the gene FKRP (fukutin related protein). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | GCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAA... | GCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAA... | pathogenic | 306,992 |
Variant in gene FKRP (fukutin related protein), located at chromosome 19 position 46756863: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Cardiovascular_phenotype', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy'] | AGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCA... | AGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCA... | pathogenic | 307,003 |
Classify the chromosome 19 variant at position 46850722 affecting gene AP2S1 (adaptor related protein complex 2 subunit sigma 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GCCTTCTCTCTTAGGAAAGAGAGCCCTCTAGTCCTGTCTTTTTCTTTTCTTTTTTGTTTTCAGACAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACTGTCTCGGTTCACTGCAACCTCTACCTCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTACCTGGGATTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGCG... | GCCTTCTCTCTTAGGAAAGAGAGCCCTCTAGTCCTGTCTTTTTCTTTTCTTTTTTGTTTTCAGACAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACTGTCTCGGTTCACTGCAACCTCTACCTCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTACCTGGGATTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGCG... | benign | 307,036 |
Regarding the variant at chromosome 19 and position 47479918, affecting gene KPTN (kaptin, actin binding protein): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'KPTN-related_disorder', 'Macrocephaly-developmental_delay_syndrome'] | GTCAACATGATAAAACCCCGCCTCTACTAAAAACACAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGACTTGCTTGAACCTGGGAGGCGGAGGTTGGAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAGAAAAAGAAAAAAAAAAAAAGAAACATGAATGAATAGGGGAAAGGTTTTGTGGGGACAGGTTCCAGGCTCCTCGTCATACCCCAGGCCCCTTTAATGAGAGACATGCAGGTTAGATCTCAGGAAAAAGT... | GTCAACATGATAAAACCCCGCCTCTACTAAAAACACAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGACTTGCTTGAACCTGGGAGGCGGAGGTTGGAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAGAAAAAGAAAAAAAAAAAAAGAAACATGAATGAATAGGGGAAAGGTTTTGTGGGGACAGGTTCCAGGCTCCTCGTCATACCCCAGGCCCCTTTAATGAGAGACATGCAGGTTAGATCTCAGGAAAAAGT... | pathogenic | 307,081 |
Does the variant impacting KPTN (kaptin, actin binding protein) on chromosome 19, position 47480760, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Macrocephaly-developmental_delay_syndrome'] | TACTCAAGTCATAAAAATGTTGTCTTTTGCAGCAACTTAGATGGAACTGGAGACCATTATTCTAAGTGCAGTAACATAGGAGTGGAAAACCAAAAAATGTATGTTCTCACAGAAGAGGGGGCCAACCTATGAGTATGCAAAGGCATACAGAGTGTATAATGGTGTTTGGAGATTCAGAAGCAGGAAGGTGGGAGGCGGTGTGGGATAGAAGCTACACATTAGGTACAACGGACACTAGCTGGGTGATGGGTGTGCTAAGATCTCAGAATCCATCACTATAGAATTCATCCATGCAACCAAAACCACTTGTGTCCCCGAAG... | TACTCAAGTCATAAAAATGTTGTCTTTTGCAGCAACTTAGATGGAACTGGAGACCATTATTCTAAGTGCAGTAACATAGGAGTGGAAAACCAAAAAATGTATGTTCTCACAGAAGAGGGGGCCAACCTATGAGTATGCAAAGGCATACAGAGTGTATAATGGTGTTTGGAGATTCAGAAGCAGGAAGGTGGGAGGCGGTGTGGGATAGAAGCTACACATTAGGTACAACGGACACTAGCTGGGTGATGGGTGTGCTAAGATCTCAGAATCCATCACTATAGAATTCATCCATGCAACCAAAACCACTTGTGTCCCCGAAG... | pathogenic | 307,085 |
Mutation found at chromosome 19 position 47483976, gene KPTN (kaptin, actin binding protein): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Macrocephaly-developmental_delay_syndrome'] | AGGACTTTATCATTACAGAACCTCAGAAGATTCTGGCTTCTATCGTACTGTAGAATATTCAAATGTTGGAATCTTAGAGCCTACGACTCTAGAAAACTTAGCATCTCTGATCTTGGAATGTCAGACTCTAGAACATTAGAATCTGGGAATTCTAGATGTGCAGAATTCCCAGAATTCACAGGTGCTCCATCAACTCTCTCAGATTATCTAGTTCAGGAATGGCAGTGTGGTGGCCCCTTGGCCATCCGGTCCATGGCCACCTTAAAAGCATGATGCTCCGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTG... | AGGACTTTATCATTACAGAACCTCAGAAGATTCTGGCTTCTATCGTACTGTAGAATATTCAAATGTTGGAATCTTAGAGCCTACGACTCTAGAAAACTTAGCATCTCTGATCTTGGAATGTCAGACTCTAGAACATTAGAATCTGGGAATTCTAGATGTGCAGAATTCCCAGAATTCACAGGTGCTCCATCAACTCTCTCAGATTATCTAGTTCAGGAATGGCAGTGTGGTGGCCCCTTGGCCATCCGGTCCATGGCCACCTTAAAAGCATGATGCTCCGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTG... | pathogenic | 307,090 |
Is the variant located on chromosome 19 at position 47834546, gene CRX (cone-rod homeobox), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7'] | TTTCTTTTTTTTGAGACGGAGTCCGTAGCCCAGGCTGGGGTGTGGTGGCACCATTTTGGCTCACTACAGCCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCCCTGTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAATCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCATAAATGCGATTTTCATTCCCATTTTCCAAC... | TTTCTTTTTTTTGAGACGGAGTCCGTAGCCCAGGCTGGGGTGTGGTGGCACCATTTTGGCTCACTACAGCCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCCCTGTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAATCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCATAAATGCGATTTTCATTCCCATTTTCCAAC... | pathogenic | 307,107 |
Gene mutation in CRX (cone-rod homeobox) at chromosome 19, position 47839468—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7'] | GCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTA... | GCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTA... | pathogenic | 307,128 |
The mutation impacting CRX (cone-rod homeobox) on chromosome 19 at position 47839496: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7', 'Retinal_dystrophy'] | TGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAAT... | TGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAAT... | pathogenic | 307,129 |
The mutation in gene CRX (cone-rod homeobox) at chromosome 19, position 47839497—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7', 'Retinal_dystrophy'] | GAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATC... | GAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATC... | pathogenic | 307,130 |
Clinical significance of chromosome 19, position 47839566, gene CRX (cone-rod homeobox): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cone-rod_dystrophy_2', 'Inborn_genetic_diseases', 'Leber_congenital_amaurosis_1', 'Leber_congenital_amaurosis_7'] | CTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTAT... | CTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTAT... | pathogenic | 307,133 |
Mutation found at chromosome 19 position 47839652, gene CRX (cone-rod homeobox): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7', 'Retinal_dystrophy'] | TATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATG... | TATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATG... | pathogenic | 307,137 |
Variant in gene CRX (cone-rod homeobox), located at chromosome 19 position 47839653: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7', 'Retinal_dystrophy', 'Stargardt_disease'] | ATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGT... | ATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGT... | pathogenic | 307,138 |
Considering the genetic mutation at chromosome 19, position 47839658, impacting CRX (cone-rod homeobox): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7', 'Retinal_dystrophy'] | GTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTA... | GTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTA... | pathogenic | 307,139 |
Variant on chromosome 19, at position 47839677, affecting CRX (cone-rod homeobox): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7', 'Retinal_dystrophy'] | TATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAAT... | TATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAAT... | pathogenic | 307,140 |
Variant in gene CRX (cone-rod homeobox), located at chromosome 19 position 47839723: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Benign_concentric_annular_macular_dystrophy', 'Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7'] | ATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATAT... | ATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATAT... | pathogenic | 307,143 |
Is the chromosome 19, position 47839727 variant in CRX (cone-rod homeobox) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Benign_concentric_annular_macular_dystrophy', 'Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7'] | ATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGC... | ATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGC... | pathogenic | 307,144 |
The genetic variant at chromosome 19, position 47840274, affecting gene CRX (cone-rod homeobox): benign or pathogenic? Disease name(s) if pathogenic? | benign | ATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATG... | ATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATG... | benign | 307,150 |
Evaluate this variant at chromosome 19, position 48156986, gene LIG1 (DNA ligase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CCACACCACATACTCCACCTTCTTTTATATCACTGCTAAACTGGGGTGTTTCCAGACACACCAAGCTGTGTCACCCCTCCAGGCCTCAGCATGTGAGGTTTGGGACATAGCTCAATGTTGCTCCCTCTGAACAAGATCCCCTGACACACCCCCAGGGCCAACCTCAGCGTCCACCTGGAGCTCCCAGCATGCCCTCAGCCACACTGTGACTTCCTTATGGCCACCTTTCATTCAGGGATGAACCTGCCTCCCCACCTCACAGCCCTTCCATGGCTCCCAGGACCCACAGCACGAAGCCCAGGCTCCTTAGCTGGGAGTGC... | CCACACCACATACTCCACCTTCTTTTATATCACTGCTAAACTGGGGTGTTTCCAGACACACCAAGCTGTGTCACCCCTCCAGGCCTCAGCATGTGAGGTTTGGGACATAGCTCAATGTTGCTCCCTCTGAACAAGATCCCCTGACACACCCCCAGGGCCAACCTCAGCGTCCACCTGGAGCTCCCAGCATGCCCTCAGCCACACTGTGACTTCCTTATGGCCACCTTTCATTCAGGGATGAACCTGCCTCCCCACCTCACAGCCCTTCCATGGCTCCCAGGACCCACAGCACGAAGCCCAGGCTCCTTAGCTGGGAGTGC... | benign | 307,218 |
Regarding the variant at chromosome 19 and position 48231760, affecting gene CARD8 (caspase recruitment domain family member 8): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ATGAGCCTTTAATAAGTGCATTAGAGGGAGATGCTACTGAACAGGAGGAGGGTTACTCCAGAGATGTGAGTGTGCCTGTCAGTGTAATTCACATATTATCCATTTAAAATTTGGTGAGAGGCCAGGGGTGGTGGCTCACGCCTGTAATCCCAACACTTCGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTACAAATACAAAAATTAGCCAGGCATAGTGGCGGGCACCTGCAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTT... | ATGAGCCTTTAATAAGTGCATTAGAGGGAGATGCTACTGAACAGGAGGAGGGTTACTCCAGAGATGTGAGTGTGCCTGTCAGTGTAATTCACATATTATCCATTTAAAATTTGGTGAGAGGCCAGGGGTGGTGGCTCACGCCTGTAATCCCAACACTTCGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTACAAATACAAAAATTAGCCAGGCATAGTGGCGGGCACCTGCAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTT... | benign | 307,239 |
Does the variant on chromosome 19 at location 48297459 affecting gene ODAD1 (outer dynein arm docking complex subunit 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CGTGAGCCACCACGCCCAGCCTGAATTTTTAGAAGTTTTTATATAGCTTTGATACCAATGGATTAAATTTTGACAGGGCATTTGGCATGACTCAACTACAGGAAAGAGTTATCAAGGTGTTCTAAGCCCTCTCACTCCTACACCCACCCCCGCTGCAGGAAAGGGCCAAAGTCAGCTTTTTCTCTGTGACCCTGTGGCTGGAGTTAGGGCTGTCCATAAATAATCCTTCCTTTCTCTCCTTCCAGGCACATGAAAAGACTGCGCTTCCCGGCGACCCTTTGAAGTTCGGCGTAACCTGCTGACCCGCTCTGGCTGAGTGT... | CGTGAGCCACCACGCCCAGCCTGAATTTTTAGAAGTTTTTATATAGCTTTGATACCAATGGATTAAATTTTGACAGGGCATTTGGCATGACTCAACTACAGGAAAGAGTTATCAAGGTGTTCTAAGCCCTCTCACTCCTACACCCACCCCCGCTGCAGGAAAGGGCCAAAGTCAGCTTTTTCTCTGTGACCCTGTGGCTGGAGTTAGGGCTGTCCATAAATAATCCTTCCTTTCTCTCCTTCCAGGCACATGAAAAGACTGCGCTTCCCGGCGACCCTTTGAAGTTCGGCGTAACCTGCTGACCCGCTCTGGCTGAGTGT... | benign | 307,266 |
Classify the chromosome 19 variant at position 48312025 affecting gene ODAD1 (outer dynein arm docking complex subunit 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Primary_ciliary_dyskinesia'] | GTAATCCCAGAACTTTGGGAGGCTGAGGCGGGTGGAACACCTTAGGTCAGGAGTTTGAGATCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCCAAGATCACGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTTAGTATCAAAAAAGAAAAAAAAGACCAGATAAACCCATGTCAGGGGACATCGCACAACACAAACGGCCT... | GTAATCCCAGAACTTTGGGAGGCTGAGGCGGGTGGAACACCTTAGGTCAGGAGTTTGAGATCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCCAAGATCACGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTTAGTATCAAAAAAGAAAAAAAAGACCAGATAAACCCATGTCAGGGGACATCGCACAACACAAACGGCCT... | pathogenic | 307,326 |
Evaluate this variant at chromosome 19, position 48965302, gene FTL (ferritin light chain): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CTCCCTCTGGGTCTCTGCCCTCCTCTCTCTAGGTCTGTCCCCCTCCCCTCTCTCTCAGGGTCTCTGTACCCCTCTGTCTCCGGGTCTGTTTTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCAGGGTCTCTGTCTGAGTCTCTTTTTCTCTGGGCCTCTGTCTCCCCACCCCACGTTCTCTATGGTCTTCAGATCCTGTCTCTCTCAGCCCCTCCTCTCCCTCCACCTATGGGCCCCAAGGCCCCTCTCGGCCGACTAAAGGTCTCTGGGCTGAGGTATGACATTTGGTAAATGAGTAACTCGGGCCCCACAGTCA... | CTCCCTCTGGGTCTCTGCCCTCCTCTCTCTAGGTCTGTCCCCCTCCCCTCTCTCTCAGGGTCTCTGTACCCCTCTGTCTCCGGGTCTGTTTTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCAGGGTCTCTGTCTGAGTCTCTTTTTCTCTGGGCCTCTGTCTCCCCACCCCACGTTCTCTATGGTCTTCAGATCCTGTCTCTCTCAGCCCCTCCTCTCCCTCCACCTATGGGCCCCAAGGCCCCTCTCGGCCGACTAAAGGTCTCTGGGCTGAGGTATGACATTTGGTAAATGAGTAACTCGGGCCCCACAGTCA... | benign | 307,447 |
Variant in FTL (ferritin light chain), chromosome 19, position 48966683—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Neuroferritinopathy'] | CTTGCAGAGCACCTCAAGAACCTAAAGATTTCCCCGGGGAGGGCTCCAAAATATAGAGAGTTTGCATCGTGAACCCCCACCCCTGTAAATCCCAGGACTCCAGTCCCCGCAACACTCCATCTTCCAGAGATCTCCAGGGGTCCAGAAATAACACCTCACAGCCTTCCAAGCTTCCCAAGGATCCGGAGACTCCTTATCTCGCAGCGCAAACCTCAGGCAACTACAGGTCCTCCCTGCACCTTTGAGGTGCCCCTCCCCCCACTCAAGGTTCCAGAAAAATCCATGCCCTCGGAAACCCCAGAATCTTACTTTCCCGAGGC... | CTTGCAGAGCACCTCAAGAACCTAAAGATTTCCCCGGGGAGGGCTCCAAAATATAGAGAGTTTGCATCGTGAACCCCCACCCCTGTAAATCCCAGGACTCCAGTCCCCGCAACACTCCATCTTCCAGAGATCTCCAGGGGTCCAGAAATAACACCTCACAGCCTTCCAAGCTTCCCAAGGATCCGGAGACTCCTTATCTCGCAGCGCAAACCTCAGGCAACTACAGGTCCTCCCTGCACCTTTGAGGTGCCCCTCCCCCCACTCAAGGTTCCAGAAAAATCCATGCCCTCGGAAACCCCAGAATCTTACTTTCCCGAGGC... | pathogenic | 307,464 |
Regarding the variant at chromosome 19 and position 48985448, affecting gene GYS1 (glycogen synthase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TAACAGGGATCTGATCCACACTGGTGATTCTGGGAAAGTTGTACTTCTTTTGTTTCCTCTTAGCCCACCCTGAGATGGAAATGATTAAACATCCCCAAAGTCCTGCTTCTCCTAGGATATATCCTCTACTTCCAAGCTTCTTACAGGGACCCAATCATTTCTTCTCCTCATAGAAATTAAAGTATATCAACGAAAAACTACAACCCCCATCAGCGCCTAGGGCAAAGTTCTGGAACATATAGAGCTAACCAGTCAAAGGCCTTCTGGGAGTTGTAGTTCTCACCTTATACTCACTGAGAACGGATACTAAGGGCTGGGAA... | TAACAGGGATCTGATCCACACTGGTGATTCTGGGAAAGTTGTACTTCTTTTGTTTCCTCTTAGCCCACCCTGAGATGGAAATGATTAAACATCCCCAAAGTCCTGCTTCTCCTAGGATATATCCTCTACTTCCAAGCTTCTTACAGGGACCCAATCATTTCTTCTCCTCATAGAAATTAAAGTATATCAACGAAAAACTACAACCCCCATCAGCGCCTAGGGCAAAGTTCTGGAACATATAGAGCTAACCAGTCAAAGGCCTTCTGGGAGTTGTAGTTCTCACCTTATACTCACTGAGAACGGATACTAAGGGCTGGGAA... | benign | 307,507 |
Is the variant located on chromosome 19 at position 48985620, gene GYS1 (glycogen synthase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GAAATTAAAGTATATCAACGAAAAACTACAACCCCCATCAGCGCCTAGGGCAAAGTTCTGGAACATATAGAGCTAACCAGTCAAAGGCCTTCTGGGAGTTGTAGTTCTCACCTTATACTCACTGAGAACGGATACTAAGGGCTGGGAAGAATGCCCAGTTCTGACCTAACCTTTCTCAAAAGCAAAGTCCACTGATCTTCCATTCCCTTTCATAAGACCAATCTACATTAGCCAATTACAGAATTTTATCATATCTGAAATTAATATGAAAGAAATTATACCTCCCATTAGCCTCCAGAGTATATAGTCAGAGAGCCTCA... | GAAATTAAAGTATATCAACGAAAAACTACAACCCCCATCAGCGCCTAGGGCAAAGTTCTGGAACATATAGAGCTAACCAGTCAAAGGCCTTCTGGGAGTTGTAGTTCTCACCTTATACTCACTGAGAACGGATACTAAGGGCTGGGAAGAATGCCCAGTTCTGACCTAACCTTTCTCAAAAGCAAAGTCCACTGATCTTCCATTCCCTTTCATAAGACCAATCTACATTAGCCAATTACAGAATTTTATCATATCTGAAATTAATATGAAAGAAATTATACCTCCCATTAGCCTCCAGAGTATATAGTCAGAGAGCCTCA... | benign | 307,510 |
Does the genetic variant at chromosome 19, position 48991438, impacting gene GYS1 (glycogen synthase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Glycogen_storage_disease_due_to_muscle_and_heart_glycogen_synthase_deficiency'] | GAGAATTGCTTGAACGCGGGAGGCGGAGGTTGCAGTGAGTCGAGATTGTACCACTGCACTCCAGACTCAGCGACAGAGTGAGATTCTATCTGAAAAAAAAAAAAAAAAAATTATGGCTCACTACAGCCTCCACATCCCATCCTCCCACCTCAGCCTCCTGAGTAACTGGGATCACGAGCACGCACCATCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGCCCAGGTGGGTCAGGAACTCCTGGGCTCAAGCTATCCTCTCACCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAG... | GAGAATTGCTTGAACGCGGGAGGCGGAGGTTGCAGTGAGTCGAGATTGTACCACTGCACTCCAGACTCAGCGACAGAGTGAGATTCTATCTGAAAAAAAAAAAAAAAAAATTATGGCTCACTACAGCCTCCACATCCCATCCTCCCACCTCAGCCTCCTGAGTAACTGGGATCACGAGCACGCACCATCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGCCCAGGTGGGTCAGGAACTCCTGGGCTCAAGCTATCCTCTCACCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAG... | pathogenic | 307,526 |
Does the genetic variant at chromosome 19, position 48991481, impacting gene GYS1 (glycogen synthase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Glycogen_storage_disease_due_to_muscle_and_heart_glycogen_synthase_deficiency'] | GATTGTACCACTGCACTCCAGACTCAGCGACAGAGTGAGATTCTATCTGAAAAAAAAAAAAAAAAAATTATGGCTCACTACAGCCTCCACATCCCATCCTCCCACCTCAGCCTCCTGAGTAACTGGGATCACGAGCACGCACCATCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGCCCAGGTGGGTCAGGAACTCCTGGGCTCAAGCTATCCTCTCACCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCACCGCCCTCGGCCACGCCACACATTTCTAACATAGCCCATC... | GATTGTACCACTGCACTCCAGACTCAGCGACAGAGTGAGATTCTATCTGAAAAAAAAAAAAAAAAAATTATGGCTCACTACAGCCTCCACATCCCATCCTCCCACCTCAGCCTCCTGAGTAACTGGGATCACGAGCACGCACCATCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGCCCAGGTGGGTCAGGAACTCCTGGGCTCAAGCTATCCTCTCACCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCACCGCCCTCGGCCACGCCACACATTTCTAACATAGCCCATC... | pathogenic | 307,527 |
The genetic variant at chromosome 19, position 48993364, affecting gene GYS1: benign or pathogenic? Disease name(s) if pathogenic? | benign | TGTTCATGGAATCCAGTGTCCTCTTCAGGGCCGGGGTGGGGGCCTCCAGCAGTTCCACCTGGGTCCTCACGCCCTGCTCCGTGTACGGCCCCACCAGGAAGTAGTTGTCGCCCCATTCGTCCCCTGTCACCTTCGCCTTCGTCTGCAGCACCGTGTAGATGCCACCCACTGTGGGCCCAAGCGTGTGAGGGCAGGCCCCGGCCGAGGTCCATAGTTCTGGGGCCTGGGGTGGGGTGGGCCGGGGATGTAGGGGGCACTCAGGCCCCAGACCTCTAGCTCAGGGGGAAGAGGGGACTGGGAGCCCATAGTTTGGAGTAGGG... | TGTTCATGGAATCCAGTGTCCTCTTCAGGGCCGGGGTGGGGGCCTCCAGCAGTTCCACCTGGGTCCTCACGCCCTGCTCCGTGTACGGCCCCACCAGGAAGTAGTTGTCGCCCCATTCGTCCCCTGTCACCTTCGCCTTCGTCTGCAGCACCGTGTAGATGCCACCCACTGTGGGCCCAAGCGTGTGAGGGCAGGCCCCGGCCGAGGTCCATAGTTCTGGGGCCTGGGGTGGGGTGGGCCGGGGATGTAGGGGGCACTCAGGCCCCAGACCTCTAGCTCAGGGGGAAGAGGGGACTGGGAGCCCATAGTTTGGAGTAGGG... | benign | 307,533 |
Assess the variant on chromosome 19, position 49016528, impacting LHB (luteinizing hormone subunit beta): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TCAGAATCCGGGGCACCAGCTACCAGAGCCCTCACGGCATCCCCATAGACCTGCTGGACCGGCTGCTTATCGTCTCCACCACCCCCTACAGCGAGAAAGACACGAAGCAGATCCTCCGCATCCGGTGCGGGCAGGACCAGGCCGTGCGCCTGAGACGCAGGGCTGGGGTCTACCCTGTTTGACAAATGCTGACACTGAGGTCCAGCGGAGTGGCATGGTGGCTGGGCCTACAGGAGAGAGGGCTGAGCGGGCACCCAGACGGTGGCCTCCGATCCGGGAGCAGGAGCCACGGTGGGAAAGGGAGGCGAGGTACCCGTGAC... | TCAGAATCCGGGGCACCAGCTACCAGAGCCCTCACGGCATCCCCATAGACCTGCTGGACCGGCTGCTTATCGTCTCCACCACCCCCTACAGCGAGAAAGACACGAAGCAGATCCTCCGCATCCGGTGCGGGCAGGACCAGGCCGTGCGCCTGAGACGCAGGGCTGGGGTCTACCCTGTTTGACAAATGCTGACACTGAGGTCCAGCGGAGTGGCATGGTGGCTGGGCCTACAGGAGAGAGGGCTGAGCGGGCACCCAGACGGTGGCCTCCGATCCGGGAGCAGGAGCCACGGTGGGAAAGGGAGGCGAGGTACCCGTGAC... | benign | 307,553 |
Considering the genetic mutation at chromosome 19, position 49171781, impacting TRPM4 (transient receptor potential cation channel subfamily M member 4): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GTTTTTTGTAGAGACAGGGTTTTGCCATGCAGCCCAGGTGGCCTCAAACTCGTGGTCGAAAGTGGTCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACGGTCGTGAGCCACTGCGCCCAGCCAGCCAATATCTTATAATTTTATCAAAACATGAACAAGATACATTACTAGGTTTGAGGAAAGTTTTTGATTTTTGTGTATTTTTCTTGTATCAATCCTCTTACCAAATTTTCTTATTGATCTTTATTTTTATTTTTGGTGGGGTTTTCCAATTTTCTGGGAATACAAGCCATGTTTTCTTCAAATAGGTACTTTTG... | GTTTTTTGTAGAGACAGGGTTTTGCCATGCAGCCCAGGTGGCCTCAAACTCGTGGTCGAAAGTGGTCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACGGTCGTGAGCCACTGCGCCCAGCCAGCCAATATCTTATAATTTTATCAAAACATGAACAAGATACATTACTAGGTTTGAGGAAAGTTTTTGATTTTTGTGTATTTTTCTTGTATCAATCCTCTTACCAAATTTTCTTATTGATCTTTATTTTTATTTTTGGTGGGGTTTTCCAATTTTCTGGGAATACAAGCCATGTTTTCTTCAAATAGGTACTTTTG... | benign | 307,666 |
Gene TRPM4 (transient receptor potential cation channel subfamily M member 4) variant at chromosome position 49196501 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CAGGCTGGTCTCAAATTCGAAGGCTTAAGTGATCTTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCATACACCACTGCGCTTGGCCTCACTTATTTCCTTCCTTCCTCCTTCCTTCCTTCTTTCCTTCCTTCCTTTCCTTTCCTTTTCTTTCCTTCCTTCCTTTCTTTCCTTCCCTTTCTTTCTCTCTCTCTTTCTCTCTCTGTCCCTCCCTCCCTTCCTTCCTTCTTTTCTTCCTTCCTTCCTCCCTCTCTTTTCTTTCTTTCTCTATCTCCTTCCCTCCCTCCCTCTCTCCCTCCCCCCAACCCTTCCTTCC... | CAGGCTGGTCTCAAATTCGAAGGCTTAAGTGATCTTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCATACACCACTGCGCTTGGCCTCACTTATTTCCTTCCTTCCTCCTTCCTTCCTTCTTTCCTTCCTTCCTTTCCTTTCCTTTTCTTTCCTTCCTTCCTTTCTTTCCTTCCCTTTCTTTCTCTCTCTCTTTCTCTCTCTGTCCCTCCCTCCCTTCCTTCCTTCTTTTCTTCCTTCCTTCCTCCCTCTCTTTTCTTTCTTTCTCTATCTCCTTCCCTCCCTCCCTCTCTCCCTCCCCCCAACCCTTCCTTCC... | benign | 307,731 |
A genetic alteration at chromosome 19, position 49200439, in gene TRPM4 (transient receptor potential cation channel subfamily M member 4)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGTGAAAAGAGCAAAACTCTGTCAAAAAAAAAAAAAAAAAAAAAAGGGAGAAATGTCTAATCATCTCCGGAATTGAATGGATGAATC... | AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGTGAAAAGAGCAAAACTCTGTCAAAAAAAAAAAAAAAAAAAAAAGGGAGAAATGTCTAATCATCTCCGGAATTGAATGGATGAATC... | benign | 307,757 |
Is the variant located on chromosome 19 at position 49595234, gene PRR12 (proline rich 12), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Abnormality_of_vision', 'Autism', 'Delayed_speech_and_language_development', 'Iris_coloboma', 'Motor_delay', 'Neuroocular_syndrome'] | TTAGGGCCTACGGTTCCTTAGCTTAACACCCCCCACCCCGGTCAGCTGGAAGGGTCCCCCCAACTCCCCGGGGGGTTTTCTGAGCTTCCTTCTCAGAAGGCAGCTTGGAAGAACCCCCTGACGTCTCCCCTTTCCCCCCAGCTTGGTTTATGGCAGCTCCAGGACCTCGCACCCCGAGACGGACATCTTACACCGCCAGGCCTATGCGGCCCCCCACCCACTGCAAAGCTATGCCACCAACCACCACCCGGCAGGTACGGCCCCCATCCCGCCCCGCTTTGGGCTGGCCCTCCCCCTCCCCCCGAGGCAGCTGATTGGCT... | TTAGGGCCTACGGTTCCTTAGCTTAACACCCCCCACCCCGGTCAGCTGGAAGGGTCCCCCCAACTCCCCGGGGGGTTTTCTGAGCTTCCTTCTCAGAAGGCAGCTTGGAAGAACCCCCTGACGTCTCCCCTTTCCCCCCAGCTTGGTTTATGGCAGCTCCAGGACCTCGCACCCCGAGACGGACATCTTACACCGCCAGGCCTATGCGGCCCCCCACCCACTGCAAAGCTATGCCACCAACCACCACCCGGCAGGTACGGCCCCCATCCCGCCCCGCTTTGGGCTGGCCCTCCCCCTCCCCCCGAGGCAGCTGATTGGCT... | pathogenic | 307,839 |
The mutation impacting PRR12 (proline rich 12) on chromosome 19 at position 49597603: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Neuroocular_syndrome', 'Neuroocular_syndrome_1'] | CCCCACCCCGTTCGACCGCCACCCCCAAATGTCAGAGCCTGGGTGGGCCAGCAGCCGCCTATGCCACTGGGAAGGCCTCTGGGGCTGGAGGGGCAGGGGGCCAGGCTTATTCCCCCGGTCAGCCTCAAGGGCTTCTGGGACCCCAGGCCTACGGGCAAGGGTTTGGAGGGGGGCAGGCACAGGACTTGAGCAAAGCCCCCAGCTACTCAGGGGGCCCCCCACAGCCCCCCAGCGGCCCCCCTCCTCCTGGCCTGGCCACATGTCAGAGCTACTCCCCGGACCAGCTGCAGGGGCAGCTGTATGGGGTGCAGGGCGAGCCA... | CCCCACCCCGTTCGACCGCCACCCCCAAATGTCAGAGCCTGGGTGGGCCAGCAGCCGCCTATGCCACTGGGAAGGCCTCTGGGGCTGGAGGGGCAGGGGGCCAGGCTTATTCCCCCGGTCAGCCTCAAGGGCTTCTGGGACCCCAGGCCTACGGGCAAGGGTTTGGAGGGGGGCAGGCACAGGACTTGAGCAAAGCCCCCAGCTACTCAGGGGGCCCCCCACAGCCCCCCAGCGGCCCCCCTCCTCCTGGCCTGGCCACATGTCAGAGCTACTCCCCGGACCAGCTGCAGGGGCAGCTGTATGGGGTGCAGGGCGAGCCA... | pathogenic | 307,859 |
A genetic alteration at chromosome 19, position 49830902, in gene MED25 (mediator complex subunit 25)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CGTTGCTTCTGATTCCATGTGAGGCGGAATATGTGCATCTCCGCTGGTGCTGGGTCTGGGTTCCTTCTCAGGGCCTCTGTTGCTGCTGGCTCCATGTCTTCTCTCTTTCCTGGTAGTGGCCAGACGCACCGGGTCTGCCTCCTCATCTGCAACTCACCCCCATACTTGTTGCCTGCTGTTGAGAGCACCACGTACTCTGGATGCACAACTGAGAATCTTGTGCAGCAGATTGGGGAGGTGAGGACTCCAGGGTCTGAGGGACGAGGGTCTGGGGGCCCGGAGTCTTGGGTCTGAGGCAGGAGGCACTGAGGGCCTGGACT... | CGTTGCTTCTGATTCCATGTGAGGCGGAATATGTGCATCTCCGCTGGTGCTGGGTCTGGGTTCCTTCTCAGGGCCTCTGTTGCTGCTGGCTCCATGTCTTCTCTCTTTCCTGGTAGTGGCCAGACGCACCGGGTCTGCCTCCTCATCTGCAACTCACCCCCATACTTGTTGCCTGCTGTTGAGAGCACCACGTACTCTGGATGCACAACTGAGAATCTTGTGCAGCAGATTGGGGAGGTGAGGACTCCAGGGTCTGAGGGACGAGGGTCTGGGGGCCCGGAGTCTTGGGTCTGAGGCAGGAGGCACTGAGGGCCTGGACT... | benign | 308,012 |
Is the genetic mutation found on chromosome 19 at position 49832082, within the gene MED25, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCTCTGCATCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGTGGCTCAGCCCCAGGCCCCCTCCAGTCAAAGCAGCCAGTCCCCCTGCCTCCCGCCGCACCCTCAGGTGCCACTCTCTCAGCAGCCCCCCAGCAGCCTCTGCCCCCCGTCCCCCCGCAGTACCAGGTATGGATATTTCCGGGAAGGGACATGCTTCTGGGGACTTGCTGGAGCCCTGGCCCCTGGGGAGAAATCTAGTTGCATGTTGGAGCTTGTGGGATGATGGGAGTCCCATGGGACATTGGGAAGGTGGGACTCTTG... | TCTCTGCATCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGTGGCTCAGCCCCAGGCCCCCTCCAGTCAAAGCAGCCAGTCCCCCTGCCTCCCGCCGCACCCTCAGGTGCCACTCTCTCAGCAGCCCCCCAGCAGCCTCTGCCCCCCGTCCCCCCGCAGTACCAGGTATGGATATTTCCGGGAAGGGACATGCTTCTGGGGACTTGCTGGAGCCCTGGCCCCTGGGGAGAAATCTAGTTGCATGTTGGAGCTTGTGGGATGATGGGAGTCCCATGGGACATTGGGAAGGTGGGACTCTTG... | benign | 308,018 |
Chromosome 19, position 49835707, gene MED25 (mediator complex subunit 25): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CACCTGGGCTCAGTGGGCCATCTCGCTTGGCGACTCTCACGGGGTTGCCATCAGATGGCAGCTGAGACTCTGGTCATCTGAAACCTTTACTGGGCTGGATGTTCAAAACAGCTCCTCACACAGCCCTGGCTGTTGGCTGGGGCTTGGCTAGGACCGGCCATCCCAGTGTCTGCACATGGCCTGTCCACGTGGCCACACTGTGGCAGCTGGGTTCTGAGAGGGCAGGCGTTGTAGGAGCAGGCATTTATATTTTGCACAGGACAGGACATCTAGAGGGGGCCAGCTATTGGGATTGGTTTCATAGGTCTGTGACATCAGGG... | CACCTGGGCTCAGTGGGCCATCTCGCTTGGCGACTCTCACGGGGTTGCCATCAGATGGCAGCTGAGACTCTGGTCATCTGAAACCTTTACTGGGCTGGATGTTCAAAACAGCTCCTCACACAGCCCTGGCTGTTGGCTGGGGCTTGGCTAGGACCGGCCATCCCAGTGTCTGCACATGGCCTGTCCACGTGGCCACACTGTGGCAGCTGGGTTCTGAGAGGGCAGGCGTTGTAGGAGCAGGCATTTATATTTTGCACAGGACAGGACATCTAGAGGGGGCCAGCTATTGGGATTGGTTTCATAGGTCTGTGACATCAGGG... | benign | 308,035 |
Does the chromosome 19 mutation at position 49861542 within gene PNKP (polynucleotide kinase 3'-phosphatase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12', 'Microcephaly,_seizures,_and_developmental_delay', 'PNKP-related_disorder'] | CCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGTACTCCAGCCTGGGCGACAAGAGCGAAACTCAGTCTCAAAAAAAAAAAAAAAGTTTCCTCAAGGAAACCCAGAAAGGCTCCATGTACCTCAGCCCTTGCTTGTGCTGGGCCGGCCGCTGCAGATCCCTCGGGCTCCTGAGTTGAAGCCATGGCCGGTTGGCTCAGGTGGCTGTGGTGAGGTGGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTC... | CCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGTACTCCAGCCTGGGCGACAAGAGCGAAACTCAGTCTCAAAAAAAAAAAAAAAGTTTCCTCAAGGAAACCCAGAAAGGCTCCATGTACCTCAGCCCTTGCTTGTGCTGGGCCGGCCGCTGCAGATCCCTCGGGCTCCTGAGTTGAAGCCATGGCCGGTTGGCTCAGGTGGCTGTGGTGAGGTGGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTC... | pathogenic | 308,060 |
Gene mutation in PNKP (polynucleotide kinase 3'-phosphatase) at chromosome 19, position 49861672—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_2B2', 'Developmental_and_epileptic_encephalopathy,_12', 'Inborn_genetic_diseases'] | TCAGCCCTTGCTTGTGCTGGGCCGGCCGCTGCAGATCCCTCGGGCTCCTGAGTTGAAGCCATGGCCGGTTGGCTCAGGTGGCTGTGGTGAGGTGGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTC... | TCAGCCCTTGCTTGTGCTGGGCCGGCCGCTGCAGATCCCTCGGGCTCCTGAGTTGAAGCCATGGCCGGTTGGCTCAGGTGGCTGTGGTGAGGTGGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTC... | pathogenic | 308,069 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 49861703, gene PNKP (polynucleotide kinase 3'-phosphatase). What disease(s) is it linked to if pathogenic? | benign | CAGATCCCTCGGGCTCCTGAGTTGAAGCCATGGCCGGTTGGCTCAGGTGGCTGTGGTGAGGTGGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCT... | CAGATCCCTCGGGCTCCTGAGTTGAAGCCATGGCCGGTTGGCTCAGGTGGCTGTGGTGAGGTGGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCT... | benign | 308,074 |
Clinically, how would you classify the variant at chromosome 19, position 49861765, gene PNKP (polynucleotide kinase 3'-phosphatase): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTT... | GGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTT... | benign | 308,078 |
Assess the variant on chromosome 19, position 49861765, impacting PNKP (polynucleotide kinase 3'-phosphatase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ataxia,_early-onset,_with_oculomotor_apraxia_and_hypoalbuminemia', 'Developmental_and_epileptic_encephalopathy,_12', 'Microcephaly,_seizures,_and_developmental_delay', 'PNKP-related_disorder'] | GGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTT... | GGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTT... | pathogenic | 308,079 |
Classify the chromosome 19 variant at position 49861773 affecting gene PNKP (polynucleotide kinase 3'-phosphatase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12'] | ACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCT... | ACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCT... | pathogenic | 308,080 |
Does the genetic variant at chromosome 19, position 49861775, impacting gene PNKP (polynucleotide kinase 3'-phosphatase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12', 'Inborn_genetic_diseases'] | ACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGT... | ACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGT... | pathogenic | 308,081 |
For chromosome 19, position 49861775, gene PNKP (polynucleotide kinase 3'-phosphatase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12'] | ACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGT... | ACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGT... | pathogenic | 308,082 |
Does the genetic variant at chromosome 19, position 49861778, impacting gene PNKP (polynucleotide kinase 3'-phosphatase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12', 'Inborn_genetic_diseases'] | GCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACT... | GCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACT... | pathogenic | 308,084 |
A genetic variant on chromosome 19, position 49861800, affects the gene PNKP (polynucleotide kinase 3'-phosphatase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Abnormality_of_the_nervous_system', 'Ataxia_-_oculomotor_apraxia_type_4', 'Developmental_and_epileptic_encephalopathy,_12', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Microcephaly,_seizures,_and_developmental_delay'] | GAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCAT... | GAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCAT... | pathogenic | 308,087 |
Evaluate if the mutation on chromosome 19 at position 49861811 in PNKP (polynucleotide kinase 3'-phosphatase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Abnormality_of_the_nervous_system', 'Developmental_and_epileptic_encephalopathy,_12', 'Inborn_genetic_diseases'] | TCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCC... | TCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCC... | pathogenic | 308,088 |
Does the variant impacting PNKP (polynucleotide kinase 3'-phosphatase) on chromosome 19, position 49861846, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia_-_oculomotor_apraxia_type_4', 'Charcot-Marie-Tooth_disease_type_2B2', 'Developmental_and_epileptic_encephalopathy,_12', 'Microcephaly,_seizures,_and_developmental_delay'] | GGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGG... | GGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGG... | pathogenic | 308,092 |
Mutation at chromosome 19, position 49861890, within PNKP (polynucleotide kinase 3'-phosphatase): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGA... | GCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGA... | benign | 308,096 |
Determine whether the variant at chromosome 19, position 49861899, in gene PNKP (polynucleotide kinase 3'-phosphatase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCA... | CAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCA... | benign | 308,099 |
The genetic variant at chromosome 19, position 49862035, affecting gene PNKP (polynucleotide kinase 3'-phosphatase): benign or pathogenic? Disease name(s) if pathogenic? | benign | CCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAG... | CCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAG... | benign | 308,102 |
Considering the genetic mutation at chromosome 19, position 49862383, impacting PNKP (polynucleotide kinase 3'-phosphatase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12'] | TGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTG... | TGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTG... | pathogenic | 308,121 |
Does the variant on chromosome 19 at location 49862556 affecting gene PNKP (polynucleotide kinase 3'-phosphatase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12', 'PNKP-related_disorder'] | GAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACT... | GAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACT... | pathogenic | 308,129 |
Considering the variant on chromosome 19, location 49862742, involving gene PNKP (polynucleotide kinase 3'-phosphatase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | ACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGC... | ACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGC... | benign | 308,136 |
Variant at chromosome position 49864083, chromosome 19, gene PNKP (polynucleotide kinase 3'-phosphatase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCC... | TGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCC... | benign | 308,149 |
Variant in gene PNKP (polynucleotide kinase 3'-phosphatase), located at chromosome 19 position 49864211: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12', 'Inborn_genetic_diseases'] | CGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAAC... | CGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAAC... | pathogenic | 308,155 |
A mutation at chromosome position 49865434 on chromosome 19 in gene PNKP (polynucleotide kinase 3'-phosphatase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGT... | GCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGT... | benign | 308,179 |
Does the variant impacting PNKP (polynucleotide kinase 3'-phosphatase) on chromosome 19, position 49867061, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12'] | TTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGC... | TTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGC... | pathogenic | 308,188 |
Evaluate if the mutation on chromosome 19 at position 49867141 in PNKP (polynucleotide kinase 3'-phosphatase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_12'] | TGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAG... | TGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAG... | pathogenic | 308,191 |
The genetic variant at chromosome 19, position 50293221, affecting gene MYH14 (myosin heavy chain 14): benign or pathogenic? Disease name(s) if pathogenic? | benign | CAGCACCTTTATAAACATCCATGCCCCAGAGGCTGGCTTCCTTCTTCTTCTATTTTACATTTCTTTCATTTAAAATGCTGCACTTTTAAGTCAAATTTCCTCATTTTTTTGTTTGTTTCTTTGTTTGTTCAGTTGGTTTTTTTTTTTTTGAGACAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCGACGTGATCTCAGCTCACAGCAACTCTGCCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCATAATTTTTGTATTTTTAGTAGAGACAAGGTTTTGCCATG... | CAGCACCTTTATAAACATCCATGCCCCAGAGGCTGGCTTCCTTCTTCTTCTATTTTACATTTCTTTCATTTAAAATGCTGCACTTTTAAGTCAAATTTCCTCATTTTTTTGTTTGTTTCTTTGTTTGTTCAGTTGGTTTTTTTTTTTTTGAGACAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCGACGTGATCTCAGCTCACAGCAACTCTGCCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCATAATTTTTGTATTTTTAGTAGAGACAAGGTTTTGCCATG... | benign | 308,384 |
Variant in POLD1 (DNA polymerase delta 1, catalytic subunit), chromosome 19, position 50399360—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TTGCTTGAACTGGGTCCCGGGAAGCGGAAGTTGCAGTGAATCGAGATTGTGCCACTGTACTCCAGCCTGGGCAACAAGAGTGAGATTCTGTCTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTTGCTCTGTGGCCCAGGATGGAGTACAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCTACCTCACCTGGCTAATTTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCC... | TTGCTTGAACTGGGTCCCGGGAAGCGGAAGTTGCAGTGAATCGAGATTGTGCCACTGTACTCCAGCCTGGGCAACAAGAGTGAGATTCTGTCTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTTGCTCTGTGGCCCAGGATGGAGTACAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCTACCTCACCTGGCTAATTTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCC... | benign | 308,510 |
Variant chromosome 19, position 50401932, gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic? Disease(s)? | benign | GGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGCTTTTGCCAAGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTTAGATTACAGGTGTGAGCCATTGTGCCAGCCCAATTTGACTTTTTAAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGATTTTCCTCTGTTGCCCAGGCTGGAGTGCACCTG... | GGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGCTTTTGCCAAGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTTAGATTACAGGTGTGAGCCATTGTGCCAGCCCAATTTGACTTTTTAAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGATTTTCCTCTGTTGCCCAGGCTGGAGTGCACCTG... | benign | 308,586 |
Chromosome 19, position 50402154, gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TGCCAGCCCAATTTGACTTTTTAAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGATTTTCCTCTGTTGCCCAGGCTGGAGTGCACCTGGCCAATAATTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTTGCTCCTGTCGCCCAGGCTGGAGTGCAGTGGCACACTCTTGGCTCACTATAACCTCCGCCTCCTGGGTTCAAGTGATCCTTCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCGCCATGTT... | TGCCAGCCCAATTTGACTTTTTAAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGATTTTCCTCTGTTGCCCAGGCTGGAGTGCACCTGGCCAATAATTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTTGCTCCTGTCGCCCAGGCTGGAGTGCAGTGGCACACTCTTGGCTCACTATAACCTCCGCCTCCTGGGTTCAAGTGATCCTTCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCGCCATGTT... | benign | 308,620 |
Considering the genetic mutation at chromosome 19, position 50402538, impacting POLD1 (DNA polymerase delta 1, catalytic subunit): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGATTACAGGAGTGAGTAACTGTGCCCCGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGAGCAGTGGCACAATCATGGTTCACTGTAACCTCAACCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCGGAGTAGCTAGGACTACAGGTGTGCACCACAATGTCTGGCTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTG... | GGATTACAGGAGTGAGTAACTGTGCCCCGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGAGCAGTGGCACAATCATGGTTCACTGTAACCTCAACCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCGGAGTAGCTAGGACTACAGGTGTGCACCACAATGTCTGGCTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTG... | benign | 308,691 |
Evaluate this variant at chromosome 19, position 50406169, gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | AGTGTCAGCGGGCCTGCTTCCTTCGGGGGCTGCAAGGGAGGACTGGTTCACGGCCTCTCTCCTTGGCTTGCAGACGGCCATCATCCCCCTGTGCCTCTTCACACCGTCTTCTCTCTGTGCGTGTCTGTTTCCACATGTCCTCCCTTTTTTTTTTTTTTCCAAGACAAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAACTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTGTT... | AGTGTCAGCGGGCCTGCTTCCTTCGGGGGCTGCAAGGGAGGACTGGTTCACGGCCTCTCTCCTTGGCTTGCAGACGGCCATCATCCCCCTGTGCCTCTTCACACCGTCTTCTCTCTGTGCGTGTCTGTTTCCACATGTCCTCCCTTTTTTTTTTTTTTCCAAGACAAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAACTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTGTT... | benign | 308,814 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 50406389, gene POLD1 (DNA polymerase delta 1, catalytic subunit): what disease(s) if pathogenic? | benign | CAAACTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCGAGGATGGTCTTGATCTCCTGACCTTGTGATCCGTCTGCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCTACTGCACCCAACCCCTTTTCTCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCGATGGCACGATCGAGGCTCACTGCAAC... | CAAACTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCGAGGATGGTCTTGATCTCCTGACCTTGTGATCCGTCTGCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCTACTGCACCCAACCCCTTTTCTCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCGATGGCACGATCGAGGCTCACTGCAAC... | benign | 308,846 |
Classify the chromosome 19 variant at position 50408690 affecting gene POLD1 (DNA polymerase delta 1, catalytic subunit) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TGACCTTACCTGACGCCCACTTTTTCCTGACCTCTGACCCCAGATTTCTCTCCACTCCTGTGACCTCTGTCACTATGACCTTGTCTCTGCTTTCCTGGCCTGACCACAGGTCCACGGTGGCCTTCAGGCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGAC... | TGACCTTACCTGACGCCCACTTTTTCCTGACCTCTGACCCCAGATTTCTCTCCACTCCTGTGACCTCTGTCACTATGACCTTGTCTCTGCTTTCCTGGCCTGACCACAGGTCCACGGTGGCCTTCAGGCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGAC... | benign | 308,961 |
Benign or pathogenic: chromosome 19, position 50408817, gene POLD1 (DNA polymerase delta 1, catalytic subunit) variant? Disease(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_susceptibility_to,_10', 'Hereditary_cancer-predisposing_syndrome', 'Mandibular_hypoplasia-deafness-progeroid_syndrome', 'POLD1-related_disorder'] | GCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGACCCCATCCGTGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGG... | GCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGACCCCATCCGTGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGG... | pathogenic | 308,976 |
For chromosome 19, position 50409679, gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGA... | TCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGA... | benign | 309,065 |
Clinical significance of chromosome 19, position 50413531, gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTCTTGACCTCTTTCCTTATTTCTGTCTCTCAAGCTTATGGGAGCAAGAGGTGGAATAATAAAAATGCAATGAATTGGCTGGGCGCGGTGGCTCACGCCTGTAACCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAACATTAGCCAGGAGTGGTGGCAGGTGCCTCTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCAGT... | CTCTTGACCTCTTTCCTTATTTCTGTCTCTCAAGCTTATGGGAGCAAGAGGTGGAATAATAAAAATGCAATGAATTGGCTGGGCGCGGTGGCTCACGCCTGTAACCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAACATTAGCCAGGAGTGGTGGCAGGTGCCTCTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCAGT... | benign | 309,091 |
Variant in gene POLD1 (DNA polymerase delta 1, catalytic subunit), located at chromosome 19 position 50416594: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TGGATCTCATGTTTTAGGGACTATCTGGATTTATCCCAGTCTCTGTTTCAGATTGGGGTCTCTGGTGTGGGGGCTCTGGCATTGCCGAGGGGCCTCAGGAGCCACTTCCAGCCATACAGTGTCTCGGTCCATCCCACCAGGCTCAGGGCACGGCTCCCATGTCCTCAAACTGCGTCTGGGACCCTGTCTACCTTCAGTTTCTGGGGGGCGTCTCCAGATTGGGGCTTGGCCTCCTCAGGCTCAGGGTCTTGGCCATGGCTCCCTCCCAGGTCTACTTCCCATACCTGCTTATCAGCAAGAAGCGCTACGCGGGCCTGCTC... | TGGATCTCATGTTTTAGGGACTATCTGGATTTATCCCAGTCTCTGTTTCAGATTGGGGTCTCTGGTGTGGGGGCTCTGGCATTGCCGAGGGGCCTCAGGAGCCACTTCCAGCCATACAGTGTCTCGGTCCATCCCACCAGGCTCAGGGCACGGCTCCCATGTCCTCAAACTGCGTCTGGGACCCTGTCTACCTTCAGTTTCTGGGGGGCGTCTCCAGATTGGGGCTTGGCCTCCTCAGGCTCAGGGTCTTGGCCATGGCTCCCTCCCAGGTCTACTTCCCATACCTGCTTATCAGCAAGAAGCGCTACGCGGGCCTGCTC... | benign | 309,290 |
Is the genetic change at chromosome 19, position 50416731, within gene POLD1 (DNA polymerase delta 1, catalytic subunit) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CAGGCTCAGGGCACGGCTCCCATGTCCTCAAACTGCGTCTGGGACCCTGTCTACCTTCAGTTTCTGGGGGGCGTCTCCAGATTGGGGCTTGGCCTCCTCAGGCTCAGGGTCTTGGCCATGGCTCCCTCCCAGGTCTACTTCCCATACCTGCTTATCAGCAAGAAGCGCTACGCGGGCCTGCTCTTCTCCTCCCGGCCCGACGCCCACGACCGCATGGACTGCAAGGGCCTGGAGGCCGTGCGCAGGGACAACTGCCCCCTCGTGGCCAACCTGGTCACTGCCTCACTGCGCCGCCTGCTCATCGACCGGTGTGTGGGGCC... | CAGGCTCAGGGCACGGCTCCCATGTCCTCAAACTGCGTCTGGGACCCTGTCTACCTTCAGTTTCTGGGGGGCGTCTCCAGATTGGGGCTTGGCCTCCTCAGGCTCAGGGTCTTGGCCATGGCTCCCTCCCAGGTCTACTTCCCATACCTGCTTATCAGCAAGAAGCGCTACGCGGGCCTGCTCTTCTCCTCCCGGCCCGACGCCCACGACCGCATGGACTGCAAGGGCCTGGAGGCCGTGCGCAGGGACAACTGCCCCCTCGTGGCCAACCTGGTCACTGCCTCACTGCGCCGCCTGCTCATCGACCGGTGTGTGGGGCC... | benign | 309,324 |
Assess the variant on chromosome 19, position 50417272, impacting POLD1 (DNA polymerase delta 1, catalytic subunit): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCG... | TCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCG... | benign | 309,360 |
Does the variant on chromosome 19 at location 50417278 affecting gene POLD1 (DNA polymerase delta 1, catalytic subunit) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCC... | GTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCC... | benign | 309,363 |
The genetic variant at chromosome 19, position 50417278, affecting gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic? Disease name(s) if pathogenic? | benign | GTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCC... | GTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCC... | benign | 309,364 |
The chromosome 19, position 50417812 genetic variant in gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTG... | GACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTG... | benign | 309,371 |
Is the genetic change at chromosome 19, position 50417817, within gene POLD1 (DNA polymerase delta 1, catalytic subunit) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTC... | CGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTC... | benign | 309,372 |
The mutation impacting POLD1 (DNA polymerase delta 1, catalytic subunit) on chromosome 19 at position 50417817: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTC... | CGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTC... | benign | 309,373 |
Gene EMC10 (ER membrane protein complex subunit 10) variant at chromosome 19, position 50479052—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Intellectual_disability', 'Neurodevelopmental_disorder_with_dysmorphic_facies_and_variable_seizures'] | CCAACGCTTAGGGAGGCCGAGGCGGGAGGATTGCTCTAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCGAGCCCTGTCTCTACAAAAAATACTAAAAAAAAAAAAAAAATTAGGCCGGTCGCGGTGGCTCATGCTTGTAATCCCAGCACTTCGGGAAGCCGAGGCGGGCGGACCACTTGAAGTCAGGAGTTCAAGACCAGCCTGCTCAAAATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCTGGATGTGGTGGCAGGTGCCTGTAATTCCAACTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGA... | CCAACGCTTAGGGAGGCCGAGGCGGGAGGATTGCTCTAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCGAGCCCTGTCTCTACAAAAAATACTAAAAAAAAAAAAAAAATTAGGCCGGTCGCGGTGGCTCATGCTTGTAATCCCAGCACTTCGGGAAGCCGAGGCGGGCGGACCACTTGAAGTCAGGAGTTCAAGACCAGCCTGCTCAAAATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCTGGATGTGGTGGCAGGTGCCTGTAATTCCAACTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGA... | pathogenic | 309,405 |
Evaluate if the mutation on chromosome 19 at position 51354304 in ETFB (electron transfer flavoprotein subunit beta) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | CCTCTTCTGCTCATAGAACTCCCATAGCTCCCCAGTGCCCTCCAAAATTCTCAAGTCTTTGTTTCAAGCCCAGGCCTGTCTCCTGAACCTGCATCGATGTCTCCTGGGCTCTTCACACTCCCCTTGTAGGATCCTCCTCTAACCTCCTGTTCTTCCTGGGTTTCCTACCTGTGTTACCAAGGCAGACCCAGGCACTGTCCTTGCCTCCTCCCTGCCCTCCCTCCCCATGCTAAGCCCAGTCTCTCCTGCCACATCATGTCTCTGCTCTGTCCTGTCACCTTTGGCTGAGGCCTCATTCTCCCCCATGTGACCATCACCTC... | CCTCTTCTGCTCATAGAACTCCCATAGCTCCCCAGTGCCCTCCAAAATTCTCAAGTCTTTGTTTCAAGCCCAGGCCTGTCTCCTGAACCTGCATCGATGTCTCCTGGGCTCTTCACACTCCCCTTGTAGGATCCTCCTCTAACCTCCTGTTCTTCCTGGGTTTCCTACCTGTGTTACCAAGGCAGACCCAGGCACTGTCCTTGCCTCCTCCCTGCCCTCCCTCCCCATGCTAAGCCCAGTCTCTCCTGCCACATCATGTCTCTGCTCTGTCCTGTCACCTTTGGCTGAGGCCTCATTCTCCCCCATGTGACCATCACCTC... | pathogenic | 309,526 |
Mutation at chromosome 19, position 51354360, within ETFB (electron transfer flavoprotein subunit beta): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CTTTGTTTCAAGCCCAGGCCTGTCTCCTGAACCTGCATCGATGTCTCCTGGGCTCTTCACACTCCCCTTGTAGGATCCTCCTCTAACCTCCTGTTCTTCCTGGGTTTCCTACCTGTGTTACCAAGGCAGACCCAGGCACTGTCCTTGCCTCCTCCCTGCCCTCCCTCCCCATGCTAAGCCCAGTCTCTCCTGCCACATCATGTCTCTGCTCTGTCCTGTCACCTTTGGCTGAGGCCTCATTCTCCCCCATGTGACCATCACCTCGGCCTCCCAGCCTCTAAACTCACCCAAAAGGATCTTTCTTCTTTTTTTCTTTTTGA... | CTTTGTTTCAAGCCCAGGCCTGTCTCCTGAACCTGCATCGATGTCTCCTGGGCTCTTCACACTCCCCTTGTAGGATCCTCCTCTAACCTCCTGTTCTTCCTGGGTTTCCTACCTGTGTTACCAAGGCAGACCCAGGCACTGTCCTTGCCTCCTCCCTGCCCTCCCTCCCCATGCTAAGCCCAGTCTCTCCTGCCACATCATGTCTCTGCTCTGTCCTGTCACCTTTGGCTGAGGCCTCATTCTCCCCCATGTGACCATCACCTCGGCCTCCCAGCCTCTAAACTCACCCAAAAGGATCTTTCTTCTTTTTTTCTTTTTGA... | benign | 309,528 |
Variant in NLRP12 (NLR family pyrin domain containing 12), chromosome 19, position 53794152—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TCTGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCCGCATGTGCTATCACGCCTGGTTAATTCTATATTTTTATTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTCGGTTCACTGCAACCTCTGCCTCCCAGGTGCAAGCGATT... | TCTGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCCGCATGTGCTATCACGCCTGGTTAATTCTATATTTTTATTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTCGGTTCACTGCAACCTCTGCCTCCCAGGTGCAAGCGATT... | benign | 309,665 |
Variant at chromosome position 53798340, chromosome 19, gene NLRP12 (NLR family pyrin domain containing 12): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CCCATGCTGGAGTGCTGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGCAGCTGGGACTACAGGCGAGAGCCACCACACCCAACTAATTGTTGTATTAGTAGAGAGAGGGTTTCACCTTGTTGGCCAGAATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCGTAATTTTTATATCTTTAGTGGAGAGGGGATTTCACCATGTTGGCCAGACTGGTCTCAAACTCCT... | CCCATGCTGGAGTGCTGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGCAGCTGGGACTACAGGCGAGAGCCACCACACCCAACTAATTGTTGTATTAGTAGAGAGAGGGTTTCACCTTGTTGGCCAGAATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCGTAATTTTTATATCTTTAGTGGAGAGGGGATTTCACCATGTTGGCCAGACTGGTCTCAAACTCCT... | benign | 309,678 |
Variant chromosome 19, position 53805521, gene NLRP12 (NLR family pyrin domain containing 12): benign or pathogenic? Disease(s)? | benign | CCCGGCCCATCTCTGGAACTTTTTCATCTTCCGAAATGGAACCTCTGCTCCCGTTAAACGGTAACTCCCCATTTCTTCCTGTTCTAGGCCTTGGCAGCCACTATTCTACTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCGTGGCTGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACTTCCGCCTCTCAGGTTCAAGTGATCCTCCTGCCTCAGCCCCCTGAGTAGCTGTGATTACAGGCGTGTGCCACCACATCCAGCTAATTTTTGTATCTTTAGTAGAGAGGGGGTTTCACCGTGTTGGCCAGGCTGGTCT... | CCCGGCCCATCTCTGGAACTTTTTCATCTTCCGAAATGGAACCTCTGCTCCCGTTAAACGGTAACTCCCCATTTCTTCCTGTTCTAGGCCTTGGCAGCCACTATTCTACTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCGTGGCTGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACTTCCGCCTCTCAGGTTCAAGTGATCCTCCTGCCTCAGCCCCCTGAGTAGCTGTGATTACAGGCGTGTGCCACCACATCCAGCTAATTTTTGTATCTTTAGTAGAGAGGGGGTTTCACCGTGTTGGCCAGGCTGGTCT... | benign | 309,699 |
The chromosome 19, position 53805521 genetic variant in gene NLRP12 (NLR family pyrin domain containing 12): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CCCGGCCCATCTCTGGAACTTTTTCATCTTCCGAAATGGAACCTCTGCTCCCGTTAAACGGTAACTCCCCATTTCTTCCTGTTCTAGGCCTTGGCAGCCACTATTCTACTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCGTGGCTGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACTTCCGCCTCTCAGGTTCAAGTGATCCTCCTGCCTCAGCCCCCTGAGTAGCTGTGATTACAGGCGTGTGCCACCACATCCAGCTAATTTTTGTATCTTTAGTAGAGAGGGGGTTTCACCGTGTTGGCCAGGCTGGTCT... | CCCGGCCCATCTCTGGAACTTTTTCATCTTCCGAAATGGAACCTCTGCTCCCGTTAAACGGTAACTCCCCATTTCTTCCTGTTCTAGGCCTTGGCAGCCACTATTCTACTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCGTGGCTGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACTTCCGCCTCTCAGGTTCAAGTGATCCTCCTGCCTCAGCCCCCTGAGTAGCTGTGATTACAGGCGTGTGCCACCACATCCAGCTAATTTTTGTATCTTTAGTAGAGAGGGGGTTTCACCGTGTTGGCCAGGCTGGTCT... | benign | 309,700 |
A genetic variant on chromosome 19, position 53807551, affects the gene NLRP12 (NLR family pyrin domain containing 12). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autoinflammatory_syndrome'] | GTGGATTATTTTCTTTTGCTTTTTTTTTTTTTTCTGAGACAGAGTCGCTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATTTTGGCTTACCACAACCTCTGCCTCCTGGGTTGAAGCAATCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGCTTACAGACGTGTGCCACCATGCCTGGCTCATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGTCAAGTGATCCTCCCCATCTGGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCATCATACCTGGCCAATAT... | GTGGATTATTTTCTTTTGCTTTTTTTTTTTTTTCTGAGACAGAGTCGCTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATTTTGGCTTACCACAACCTCTGCCTCCTGGGTTGAAGCAATCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGCTTACAGACGTGTGCCACCATGCCTGGCTCATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGTCAAGTGATCCTCCCCATCTGGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCATCATACCTGGCCAATAT... | pathogenic | 309,703 |
Chromosome 19, position 53810542, gene NLRP12 (NLR family pyrin domain containing 12): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_cold_autoinflammatory_syndrome_2'] | AGGCCGAGAGTTTGAGACCAGCCTGGCCAACATGGTGACACCCCATCTCTACTAAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACTCCTGTGGTCCCAGCTGCTCAGGAGGCTGAGACACGCAAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCCCTGCACTCCAGCCTTGGTGACAGAGCCACACTCTCTCAAGAAAAAGGGACTTAGTAATATTTGTTGATTGAATAAATTCTCCCAGACATCGACCTCAATTTAGTCCCAATGGGTGTTGTTTAGTCTTTGTGGCACTATTGACACTTTGGGGCCAGAGGG... | AGGCCGAGAGTTTGAGACCAGCCTGGCCAACATGGTGACACCCCATCTCTACTAAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACTCCTGTGGTCCCAGCTGCTCAGGAGGCTGAGACACGCAAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCCCTGCACTCCAGCCTTGGTGACAGAGCCACACTCTCTCAAGAAAAAGGGACTTAGTAATATTTGTTGATTGAATAAATTCTCCCAGACATCGACCTCAATTTAGTCCCAATGGGTGTTGTTTAGTCTTTGTGGCACTATTGACACTTTGGGGCCAGAGGG... | pathogenic | 309,725 |
Variant chromosome 19, position 54118358, gene PRPF31 (pre-mRNA processing factor 31): benign or pathogenic? Disease(s)? | pathogenic; ['Retinitis_pigmentosa'] | TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCACCACCACGCCCGGCTAGTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGATGATCCACCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCGGCCTTTTACAGCCTGTTTACCCAAAAGTCTTAATATGCGCCTACCATGGTGTGGCCCTGGGGATGTGGAAGGAGCAAAAATTGTTCGCTACCCTCTTAGAGCTTTGGTTGATGCCTGGCAGACAGGC... | TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCACCACCACGCCCGGCTAGTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGATGATCCACCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCGGCCTTTTACAGCCTGTTTACCCAAAAGTCTTAATATGCGCCTACCATGGTGTGGCCCTGGGGATGTGGAAGGAGCAAAAATTGTTCGCTACCCTCTTAGAGCTTTGGTTGATGCCTGGCAGACAGGC... | pathogenic | 309,802 |
Regarding the variant found on chromosome 19 at position 54118589 in gene PRPF31 (pre-mRNA processing factor 31): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Retinal_dystrophy'] | GCCTACCATGGTGTGGCCCTGGGGATGTGGAAGGAGCAAAAATTGTTCGCTACCCTCTTAGAGCTTTGGTTGATGCCTGGCAGACAGGCTTTATCAAATAATTACTTCATTAATCACAAATGTGTGAAGTGCCTTACTGTAGACACGCAGAGCGTGCGGGACACGTTATCACAAAGCAACCTCCTGTAGTCTAGAGTGGGGCGTGTGGGTCAGGGAGGTGGAACGTGAGAGCTGAAGGCTGAGGAGATGCTGGGCTACTAAGAAGTGAGGAGAGCCAGACGCCATGGCTCACTCCTGTAATCCCAGCACTTTGGGTGGCC... | GCCTACCATGGTGTGGCCCTGGGGATGTGGAAGGAGCAAAAATTGTTCGCTACCCTCTTAGAGCTTTGGTTGATGCCTGGCAGACAGGCTTTATCAAATAATTACTTCATTAATCACAAATGTGTGAAGTGCCTTACTGTAGACACGCAGAGCGTGCGGGACACGTTATCACAAAGCAACCTCCTGTAGTCTAGAGTGGGGCGTGTGGGTCAGGGAGGTGGAACGTGAGAGCTGAAGGCTGAGGAGATGCTGGGCTACTAAGAAGTGAGGAGAGCCAGACGCCATGGCTCACTCCTGTAATCCCAGCACTTTGGGTGGCC... | pathogenic | 309,806 |
Is the genetic variant on chromosome 19, position 54121899, gene PRPF31, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa'] | GGGGAAAGAAGTGTAGTGAGAGGGCAGAGTTTCGGGAGACTCACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGG... | GGGGAAAGAAGTGTAGTGAGAGGGCAGAGTTTCGGGAGACTCACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGG... | pathogenic | 309,815 |
Chromosome 19, position 54121940, gene PRPF31: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | CACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGA... | CACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGA... | pathogenic | 309,816 |
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