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 |
|---|---|---|---|---|---|
Located at chromosome 1 position 25809138, the variant affecting gene SELENON (selenoprotein N)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy'] | GGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTG... | GGCGTACAGGGATTATAGGGATTACAGGTGTGAGCCACCATGCCCGGCCGGGAGCCCCTTTCTTAACCTCATCGCTGCAGGTTCAGGGAGGGACAGAAATTCCAAGGAGGAGCTCACAGGGAAGGGCATTGCCCGTTTTGGGTCCTGTTTACTTGCCGTCTCCCACTATAAGCTCCAAGAAGACAGGGTGCACAGTGTACCCTGATAGAAACTTCCTATACAGTAGGTGCATAAAACATTTTGTGGAATGAACAAATGAATAAACGTGTTCTTCTCAGCCAAGGAGACAGTGCAGCAGATAGGCAGGAGTCCAGGAAGTG... | pathogenic | 5,814 |
A genetic variant on chromosome 1, position 25809805, affects the gene SELENON (selenoprotein N). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Congenital_myopathy_with_fiber_type_disproportion', 'Eichsfeld_type_congenital_muscular_dystrophy'] | TGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTG... | TGCCAGGGAGGTGGCGACAGAAGAGGGAATCTGCTGTTCCCCAAATGCTGGCCGACGTGTAGACAGCTCTGTGGTCTCTGAGCGTCCTCTCCGAGCCATCAGCTTGTCAGACAGAGGCGAGGCAGGTCACCGATGAGGACTCGGGCTTAGGGAAGGCCTTTTGCCCAGGGTGGGGCAGGCTGTACTTAAGGCAGGGCCCTTCTGGGGGTGGCCTTCCTTCCCCTTCCCTGTGGTCTCATCCTGCTCTTGACCCTAGAGATTTCACCTCAAACATGATTGGCCACCACCCTCATCGGACTTAGCTCCAAACCGAAACCCTG... | pathogenic | 5,819 |
Gene SELENON (selenoprotein N) variant at chromosome 1, position 25811806—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy'] | CATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTT... | CATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTCTTCGTGCCCAACCACAGGTGGGAGCTTGACCCTGGCCCAGCCTTGGCTCCCTCCTACAGCTTGTCCTGCTCCCCAGCTCCAGGAGCCTAGGGGCCTCTTCTGTCTCTGCCCCTTCCTTTGCTCCCCAGAGCCCATCTCATGGGGCTGACGTGGCAGGAGGCGGCATGAGGCAGGCAAGAGAATGAGCTGATCACCCACCAGCTCTTCCCAGGCACCCGTGGCCTGGCCCTCCACCTCTGTGCCTGGGACCCAGTGCAGCAGTCCGCAGACCCTT... | pathogenic | 5,833 |
Benign or pathogenic: chromosome 1, position 25812734, gene SELENON (selenoprotein N) variant? Disease(s) if pathogenic? | pathogenic; ['Eichsfeld_type_congenital_muscular_dystrophy'] | ATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGT... | ATTGCCCCTAGGAGTGGGGGTGGCTTCCCTCCCTCCCCAGAGTGGGAAGGGCAGGGGCTTCCCGGTCAAAGGGAAAAGGAAGAGGAGGGCACAAGCCCTCCATCTGCTCACCTAGGGCTGGGCACACCTGCCTCCATCGCAGGGTTGTTGAGGAGGGGGCCTGGACTGTATGGGACAGGAGGAGAGAGGCAGTGGCCAGCTCCAGGACCAGCTGTTCCTGGGCTCATGTCTGAGGACCAGGCACCAGGGACTGCTGACCCCCGGGGGTTACCTAGCTCTGCCCTCTGTGCCCCCTGCTGCGGAGGTGGTGGTTTGCCAGT... | pathogenic | 5,841 |
Variant in SELENON (selenoprotein N), chromosome 1, position 25813938—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Abnormality_of_the_musculature', 'Congenital_myopathy_4A,_autosomal_dominant', 'Eichsfeld_type_congenital_muscular_dystrophy'] | GCAGGGGTGAAGGCCAGGGTCAGGCTGCATGGGCAGAGGCTGGGAGCTGTGGAGCAGCAGCTGGGCACAGACGCTGGTATGTGTGCAGGGCTTGCTACTGAGGCTGTCTCACTGTTGGGCCCAGCTGTGCCAGCGGGGCCTCCCCGCTGCCATTCAGAACTTGGAGGAAGAGGCCAGGTGCAATGGCTCATGCCTATAATCCAAAACTTTGGGAGGCTGAGGCAGAGAATCACTTGTGGCCAGGAGTTCAAGAGCAATCTGGGCAACATAGCGAGACCCCATATCTACAAAAGAATTTTTTTAATTACCTGGGGGTGGTG... | GCAGGGGTGAAGGCCAGGGTCAGGCTGCATGGGCAGAGGCTGGGAGCTGTGGAGCAGCAGCTGGGCACAGACGCTGGTATGTGTGCAGGGCTTGCTACTGAGGCTGTCTCACTGTTGGGCCCAGCTGTGCCAGCGGGGCCTCCCCGCTGCCATTCAGAACTTGGAGGAAGAGGCCAGGTGCAATGGCTCATGCCTATAATCCAAAACTTTGGGAGGCTGAGGCAGAGAATCACTTGTGGCCAGGAGTTCAAGAGCAATCTGGGCAACATAGCGAGACCCCATATCTACAAAAGAATTTTTTTAATTACCTGGGGGTGGTG... | pathogenic | 5,852 |
Does the variant impacting TRIM63 (tripartite motif containing 63) on chromosome 1, position 26061184, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hypertrophic_cardiomyopathy', 'Inborn_genetic_diseases'] | TGCCTCAGCCTCCCGAGTAGCTGGGATTATAGATACGCTACCACGCCTGGCTATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCAGCTTGACCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCTCTCTGTTGCCTTTTAGCTGTGTTTCCCTTTTAGCTGTGTGACCTTCAACAAATTAACGTTTCCTGGGCCTCCCATATGTCCCAGTTCACACTCTTCCCTCCCTTTCAGGACCAAGACTGGATTCGGGAAGCTCT... | TGCCTCAGCCTCCCGAGTAGCTGGGATTATAGATACGCTACCACGCCTGGCTATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCAGCTTGACCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCTCTCTGTTGCCTTTTAGCTGTGTTTCCCTTTTAGCTGTGTGACCTTCAACAAATTAACGTTTCCTGGGCCTCCCATATGTCCCAGTTCACACTCTTCCCTCCCTTTCAGGACCAAGACTGGATTCGGGAAGCTCT... | pathogenic | 5,880 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 26183819, gene CNKSR1 (connector enhancer of kinase suppressor of Ras 1). What disease(s) is it linked to if pathogenic? | benign | GTCTCTGAGGTGAGTAATTGGTGAGTAATTGGCTCTGAGTGGTTAAGCATAGTCCCTTAACCACTGTGCTATTCTTCCCCTGCCAGGTACCTCTTCTCCCACTTAAATGATTTCTCAGCATGCCAGGAGATCCGAGACTTGTTGGAGGAGCTGAGCCAGGTCTTGCATGAGGTAGGAGAACCAAGGGCCAGGCTTGGCCCATGCCCTAGAGACCAAGCTGGGCTAGAGCTTTTTATAACCTGTGAATCAGCCCAGGATCGAGTATGAGGATTGAGACGGGCGAGAAAGGAGGAGAGGAGGCCCTGCCACTGGGTATGGGA... | GTCTCTGAGGTGAGTAATTGGTGAGTAATTGGCTCTGAGTGGTTAAGCATAGTCCCTTAACCACTGTGCTATTCTTCCCCTGCCAGGTACCTCTTCTCCCACTTAAATGATTTCTCAGCATGCCAGGAGATCCGAGACTTGTTGGAGGAGCTGAGCCAGGTCTTGCATGAGGTAGGAGAACCAAGGGCCAGGCTTGGCCCATGCCCTAGAGACCAAGCTGGGCTAGAGCTTTTTATAACCTGTGAATCAGCCCAGGATCGAGTATGAGGATTGAGACGGGCGAGAAAGGAGGAGAGGAGGCCCTGCCACTGGGTATGGGA... | benign | 5,894 |
Does the variant impacting DHDDS (dehydrodolichyl diphosphate synthase subunit) on chromosome 1, position 26442810, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinitis_pigmentosa_59'] | AGAGGCAGCTCTTCAGCTTGTTTCTTCTGTTCTGTTTGAATGTCTTCTGTTGTCTACGTTTAACCTCCCGCTCTCCATCTCTCAACATTGTCCTCCACCTCTCAACATTGTTCTCCACCTTTAGTGGTACAGGATTAGAGCAGCCCCAAAGGACTAAGTTTTCTTCTTTTTTTTTTTTTTTGAGACGGAGTGTTGCTCTGTCACCCAGGCTGGGGTGCAGTGGCGCGATCTCAGTTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCCTGCGCCACCAC... | AGAGGCAGCTCTTCAGCTTGTTTCTTCTGTTCTGTTTGAATGTCTTCTGTTGTCTACGTTTAACCTCCCGCTCTCCATCTCTCAACATTGTCCTCCACCTCTCAACATTGTTCTCCACCTTTAGTGGTACAGGATTAGAGCAGCCCCAAAGGACTAAGTTTTCTTCTTTTTTTTTTTTTTTGAGACGGAGTGTTGCTCTGTCACCCAGGCTGGGGTGCAGTGGCGCGATCTCAGTTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGCCTGCGCCACCAC... | pathogenic | 5,921 |
Variant in DHDDS (dehydrodolichyl diphosphate synthase subunit), chromosome 1, position 26460040—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Developmental_delay_and_seizures_with_or_without_movement_abnormalities', 'Retinitis_pigmentosa_59'] | CCCAAACAGGCTGGGGCCAGAGTACTTCTGGGGAAAGCTAAAATCTGGAGAAGCATCTCTAGGCTGTGTCTCATAATATTTGATGTCCATTCCTCATCTGTCGCTGGCTTTGCGAATCCAACTATAGTGAAAACTTCATTGTGCCGCTTTTCAAGGAATGGGACTTCTGTCTTGCATCCCTGAGCGTAAGCTCTTGCCTTGGTAACCTGCCAGGGACCCTAGCCCCTCTGGGTTGGAAGCTTGCCTTGCAGTTACTAGTCCCTCCCCTTCAGGATAAAGGGCCATACCTATGCAAGCATGGTAAACAATATGCAAACACT... | CCCAAACAGGCTGGGGCCAGAGTACTTCTGGGGAAAGCTAAAATCTGGAGAAGCATCTCTAGGCTGTGTCTCATAATATTTGATGTCCATTCCTCATCTGTCGCTGGCTTTGCGAATCCAACTATAGTGAAAACTTCATTGTGCCGCTTTTCAAGGAATGGGACTTCTGTCTTGCATCCCTGAGCGTAAGCTCTTGCCTTGGTAACCTGCCAGGGACCCTAGCCCCTCTGGGTTGGAAGCTTGCCTTGCAGTTACTAGTCCCTCCCCTTCAGGATAAAGGGCCATACCTATGCAAGCATGGTAAACAATATGCAAACACT... | pathogenic | 5,931 |
Is the genetic change at chromosome 1, position 26696421, within gene ARID1A (AT-rich interaction domain 1A) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Coffin-Siris_syndrome_1', 'Intellectual_disability,_autosomal_dominant_14'] | GGCAGCCTTGGGTCTGGTGAGGAGCTGGAATCCCCTCTGGCTTTTGTAGCCTGTCATATCAGAACATTCCAAGTCAGCCTGAGGAAGAAAAGGCTGCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGA... | GGCAGCCTTGGGTCTGGTGAGGAGCTGGAATCCCCTCTGGCTTTTGTAGCCTGTCATATCAGAACATTCCAAGTCAGCCTGAGGAAGAAAAGGCTGCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGA... | pathogenic | 5,939 |
Determine whether the variant at chromosome 1, position 26696448, in gene ARID1A (AT-rich interaction domain 1A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GAATCCCCTCTGGCTTTTGTAGCCTGTCATATCAGAACATTCCAAGTCAGCCTGAGGAAGAAAAGGCTGCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTC... | GAATCCCCTCTGGCTTTTGTAGCCTGTCATATCAGAACATTCCAAGTCAGCCTGAGGAAGAAAAGGCTGCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTC... | benign | 5,940 |
Determine if the mutation at chromosome 1, position 26696448 in gene ARID1A (AT-rich interaction domain 1A) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GAATCCCCTCTGGCTTTTGTAGCCTGTCATATCAGAACATTCCAAGTCAGCCTGAGGAAGAAAAGGCTGCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTC... | GAATCCCCTCTGGCTTTTGTAGCCTGTCATATCAGAACATTCCAAGTCAGCCTGAGGAAGAAAAGGCTGCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTC... | benign | 5,941 |
For chromosome 1, position 26696516, gene ARID1A (AT-rich interaction domain 1A): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTAT... | GCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTAT... | benign | 5,943 |
Regarding the variant found on chromosome 1 at position 26696516 in gene ARID1A (AT-rich interaction domain 1A): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTAT... | GCTGCTGGGATTTGGTGGGGCCTGTAGATCAGGAGAACACTGGAGCTTTCTGTGTATGTCGATCTTTTCAGATAAACCTGGCCTTCTACCCAACTCCAGCTCAATCGGGGTCTCTTAGAATGTAATGGTAAACTTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTAT... | benign | 5,944 |
Is the genetic change at chromosome 1, position 26696649, within gene ARID1A (AT-rich interaction domain 1A) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTATTAGAAGGTACTGTCTTTGGAGACTGGGGCTACTTGTCATGGTAGGCTAAGTTTTCTTAAGAGGGAGTGAGAAACGGTGTTTAGGTTTTCCTGCTGGGTAACTGTTCTATGCTCCTAAAGCAACTTCAGTGGCC... | TTTAAACAATCTTTACGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTATTAGAAGGTACTGTCTTTGGAGACTGGGGCTACTTGTCATGGTAGGCTAAGTTTTCTTAAGAGGGAGTGAGAAACGGTGTTTAGGTTTTCCTGCTGGGTAACTGTTCTATGCTCCTAAAGCAACTTCAGTGGCC... | benign | 5,948 |
Variant in gene ARID1A (AT-rich interaction domain 1A), located at chromosome 1 position 26696664: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTATTAGAAGGTACTGTCTTTGGAGACTGGGGCTACTTGTCATGGTAGGCTAAGTTTTCTTAAGAGGGAGTGAGAAACGGTGTTTAGGTTTTCCTGCTGGGTAACTGTTCTATGCTCCTAAAGCAACTTCAGTGGCCTCCATTTTAAGTTAG... | CGCTACAGGATAGAAAACAAATCTGACAAGCATCCATTTTCTAAGTGACTTGTTGGACTGTGCCTTTTCTTCAAGGAGAAAATGGTTTCCATTTTCTGCATCTCTCTTCTGTAATGGTTTGAACACTCAGGTTCCTGCAGTCCCTGGAGCCTCTTCTGTGGGTTTTCAGTATTAGAAGGTACTGTCTTTGGAGACTGGGGCTACTTGTCATGGTAGGCTAAGTTTTCTTAAGAGGGAGTGAGAAACGGTGTTTAGGTTTTCCTGCTGGGTAACTGTTCTATGCTCCTAAAGCAACTTCAGTGGCCTCCATTTTAAGTTAG... | benign | 5,949 |
Does the chromosome 1 mutation at position 26697412 within gene ARID1A classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Intellectual_disability,_autosomal_dominant_14'] | GGGTCAGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCC... | GGGTCAGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCC... | pathogenic | 5,978 |
A mutation at chromosome position 26697417 on chromosome 1 in gene ARID1A: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | AGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTT... | AGGGCTGGGCCGAGGCGGCCGCGGTCTCAGGCTCTGGCCAATTTTGCAGCCGCGGGTAAAGTTCACGCTGCCCGCTCCCCTCGGTACGGCCGGGAGGGGACAGACCTGGATAGGGACGCCGGGAGGGAGGCGGCGCAGGCTCCAGAGATGCGCGGGCTCCGGGCCGGGTTTTCTCCGAAGCCTTCGGCGGCGGCGCTGCCTAGCGAAAGCGGCTGAGGGCCTGCCGCCGCCGCGGCTTGTTCTCTCCCCTCCTCCTTTGTGAAGGGAAGGGAGCGAGTCCGTTCCACGGCCTGCGCCCGCTCCGCTCTCCACTCCGGGTT... | benign | 5,979 |
Gene ARID1A (AT-rich interaction domain 1A) variant at chromosome position 26773690 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TCTGGGAGCTTTGGCCTATTGATGTCAGCACCTTAGAATGCAGCTCAGACTAGAGCCCTGAATTCCCCAGGGAGCTGAGATGGTAATGAATGGGAAGGAGGGAGTGGGGAAGGGTTATGAATGGAACTCCCTGATGGGAGTGGCTCTGCTCACCCTCCTTTCTGAGAGGAGGCTGAGGCCTAGGGTGAGCCTAGAGAGGGAAGAAGGCCAGGGTGCCTGGAAGGTGGGTGTAAACACATGTGCCCTGGTGTTGACCTCTGAGGGTGTAATGAGTGCCTGAGATGACTCATCAGCTGGGGAGGCCTCAGCAGTGGGATATC... | TCTGGGAGCTTTGGCCTATTGATGTCAGCACCTTAGAATGCAGCTCAGACTAGAGCCCTGAATTCCCCAGGGAGCTGAGATGGTAATGAATGGGAAGGAGGGAGTGGGGAAGGGTTATGAATGGAACTCCCTGATGGGAGTGGCTCTGCTCACCCTCCTTTCTGAGAGGAGGCTGAGGCCTAGGGTGAGCCTAGAGAGGGAAGAAGGCCAGGGTGCCTGGAAGGTGGGTGTAAACACATGTGCCCTGGTGTTGACCTCTGAGGGTGTAATGAGTGCCTGAGATGACTCATCAGCTGGGGAGGCCTCAGCAGTGGGATATC... | benign | 6,035 |
Considering the variant on chromosome 1, location 26773690, involving gene ARID1A (AT-rich interaction domain 1A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TCTGGGAGCTTTGGCCTATTGATGTCAGCACCTTAGAATGCAGCTCAGACTAGAGCCCTGAATTCCCCAGGGAGCTGAGATGGTAATGAATGGGAAGGAGGGAGTGGGGAAGGGTTATGAATGGAACTCCCTGATGGGAGTGGCTCTGCTCACCCTCCTTTCTGAGAGGAGGCTGAGGCCTAGGGTGAGCCTAGAGAGGGAAGAAGGCCAGGGTGCCTGGAAGGTGGGTGTAAACACATGTGCCCTGGTGTTGACCTCTGAGGGTGTAATGAGTGCCTGAGATGACTCATCAGCTGGGGAGGCCTCAGCAGTGGGATATC... | TCTGGGAGCTTTGGCCTATTGATGTCAGCACCTTAGAATGCAGCTCAGACTAGAGCCCTGAATTCCCCAGGGAGCTGAGATGGTAATGAATGGGAAGGAGGGAGTGGGGAAGGGTTATGAATGGAACTCCCTGATGGGAGTGGCTCTGCTCACCCTCCTTTCTGAGAGGAGGCTGAGGCCTAGGGTGAGCCTAGAGAGGGAAGAAGGCCAGGGTGCCTGGAAGGTGGGTGTAAACACATGTGCCCTGGTGTTGACCTCTGAGGGTGTAATGAGTGCCTGAGATGACTCATCAGCTGGGGAGGCCTCAGCAGTGGGATATC... | benign | 6,036 |
Evaluate if the mutation on chromosome 1 at position 26779184 in ARID1A (AT-rich interaction domain 1A) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCTTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCAAATGCCACCATGTCCAGCTATTTATTTATTTTGAGACAGGGTCTCCATTACTCAAGCTAGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCTCAACTTCCGAGGCTCAGGTGATCCTCCCACCTCAGCTTCCCAAGTGGCTGGGACTACAGGTGCGTGCAAACATGCTCATGCTCAGCTAATTTTTTTTTTTTTTTTTTTTGAGAGATGAGGCTTCACCATGTTGCCCAGGCTGATTTCAAAC... | CTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCTTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCAAATGCCACCATGTCCAGCTATTTATTTATTTTGAGACAGGGTCTCCATTACTCAAGCTAGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCTCAACTTCCGAGGCTCAGGTGATCCTCCCACCTCAGCTTCCCAAGTGGCTGGGACTACAGGTGCGTGCAAACATGCTCATGCTCAGCTAATTTTTTTTTTTTTTTTTTTTGAGAGATGAGGCTTCACCATGTTGCCCAGGCTGATTTCAAAC... | benign | 6,065 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 26779197, gene ARID1A (AT-rich interaction domain 1A). What disease(s) is it linked to if pathogenic? | benign | CAAACTCCTGGGCTCAAGCGATCCTCTTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCAAATGCCACCATGTCCAGCTATTTATTTATTTTGAGACAGGGTCTCCATTACTCAAGCTAGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCTCAACTTCCGAGGCTCAGGTGATCCTCCCACCTCAGCTTCCCAAGTGGCTGGGACTACAGGTGCGTGCAAACATGCTCATGCTCAGCTAATTTTTTTTTTTTTTTTTTTTGAGAGATGAGGCTTCACCATGTTGCCCAGGCTGATTTCAAACTCCTGGGCTCAAG... | CAAACTCCTGGGCTCAAGCGATCCTCTTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCAAATGCCACCATGTCCAGCTATTTATTTATTTTGAGACAGGGTCTCCATTACTCAAGCTAGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCTCAACTTCCGAGGCTCAGGTGATCCTCCCACCTCAGCTTCCCAAGTGGCTGGGACTACAGGTGCGTGCAAACATGCTCATGCTCAGCTAATTTTTTTTTTTTTTTTTTTTGAGAGATGAGGCTTCACCATGTTGCCCAGGCTGATTTCAAACTCCTGGGCTCAAG... | benign | 6,066 |
Is the genetic mutation found on chromosome 1 at position 26780031, within the gene ARID1A (AT-rich interaction domain 1A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['ARID1A-related_BAFopathy', 'Intellectual_disability,_autosomal_dominant_14'] | ACTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGGGACTCTGTCTCAAAAAAAAAAAAAAAAAAATACACACACACACACTCTCACACACTAGCCCGATGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAAAAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGCCAACTGAGATCACACCACTGTACTCCAGCCTGGATGACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAGTGTTGGGATTACAGGTGTGAGCCA... | ACTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGGGACTCTGTCTCAAAAAAAAAAAAAAAAAAATACACACACACACACTCTCACACACTAGCCCGATGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAAAAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGCCAACTGAGATCACACCACTGTACTCCAGCCTGGATGACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAGTGTTGGGATTACAGGTGTGAGCCA... | pathogenic | 6,078 |
The genetic variant at chromosome 1, position 27548841, affecting gene AHDC1 (AT-hook DNA binding motif containing 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | GGTGCCAGCAGGGCTGGTCCTCTGGATAGGCCCTGGGTAGACGACCGTCCAACCTGCTTCTCCCTTCACCTGTCTCACACAGGGCGATACAAATGCCCACCCTTATCAGCGTATTTCCTGGGAAATACTCACTTCCTGCCCAAGACATAGCATGAACAAATAATTGAAAGCTTAATAAACCAAACTACAGGGCCCCATCCAGTGTGTAGTCCTCTGGCCATTTCAATTCACAAGACCCCCCCGAACGTTCAAGCCCCCTGCTGAGTTCCCAGCCCAAGCACCCCATCTCCTCCTGAGACTGTCCGCAACAGCGAATCCTG... | GGTGCCAGCAGGGCTGGTCCTCTGGATAGGCCCTGGGTAGACGACCGTCCAACCTGCTTCTCCCTTCACCTGTCTCACACAGGGCGATACAAATGCCCACCCTTATCAGCGTATTTCCTGGGAAATACTCACTTCCTGCCCAAGACATAGCATGAACAAATAATTGAAAGCTTAATAAACCAAACTACAGGGCCCCATCCAGTGTGTAGTCCTCTGGCCATTTCAATTCACAAGACCCCCCCGAACGTTCAAGCCCCCTGCTGAGTTCCCAGCCCAAGCACCCCATCTCCTCCTGAGACTGTCCGCAACAGCGAATCCTG... | benign | 6,199 |
Clinical significance of chromosome 1, position 27548841, gene AHDC1 (AT-hook DNA binding motif containing 1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGTGCCAGCAGGGCTGGTCCTCTGGATAGGCCCTGGGTAGACGACCGTCCAACCTGCTTCTCCCTTCACCTGTCTCACACAGGGCGATACAAATGCCCACCCTTATCAGCGTATTTCCTGGGAAATACTCACTTCCTGCCCAAGACATAGCATGAACAAATAATTGAAAGCTTAATAAACCAAACTACAGGGCCCCATCCAGTGTGTAGTCCTCTGGCCATTTCAATTCACAAGACCCCCCCGAACGTTCAAGCCCCCTGCTGAGTTCCCAGCCCAAGCACCCCATCTCCTCCTGAGACTGTCCGCAACAGCGAATCCTG... | GGTGCCAGCAGGGCTGGTCCTCTGGATAGGCCCTGGGTAGACGACCGTCCAACCTGCTTCTCCCTTCACCTGTCTCACACAGGGCGATACAAATGCCCACCCTTATCAGCGTATTTCCTGGGAAATACTCACTTCCTGCCCAAGACATAGCATGAACAAATAATTGAAAGCTTAATAAACCAAACTACAGGGCCCCATCCAGTGTGTAGTCCTCTGGCCATTTCAATTCACAAGACCCCCCCGAACGTTCAAGCCCCCTGCTGAGTTCCCAGCCCAAGCACCCCATCTCCTCCTGAGACTGTCCGCAACAGCGAATCCTG... | benign | 6,200 |
Gene AHDC1 (AT-hook DNA binding motif containing 1) variant at chromosome position 27548873 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CTGGGTAGACGACCGTCCAACCTGCTTCTCCCTTCACCTGTCTCACACAGGGCGATACAAATGCCCACCCTTATCAGCGTATTTCCTGGGAAATACTCACTTCCTGCCCAAGACATAGCATGAACAAATAATTGAAAGCTTAATAAACCAAACTACAGGGCCCCATCCAGTGTGTAGTCCTCTGGCCATTTCAATTCACAAGACCCCCCCGAACGTTCAAGCCCCCTGCTGAGTTCCCAGCCCAAGCACCCCATCTCCTCCTGAGACTGTCCGCAACAGCGAATCCTGAATCCCTACACCCTGCTCTCAGTCCCCAGCCT... | CTGGGTAGACGACCGTCCAACCTGCTTCTCCCTTCACCTGTCTCACACAGGGCGATACAAATGCCCACCCTTATCAGCGTATTTCCTGGGAAATACTCACTTCCTGCCCAAGACATAGCATGAACAAATAATTGAAAGCTTAATAAACCAAACTACAGGGCCCCATCCAGTGTGTAGTCCTCTGGCCATTTCAATTCACAAGACCCCCCCGAACGTTCAAGCCCCCTGCTGAGTTCCCAGCCCAAGCACCCCATCTCCTCCTGAGACTGTCCGCAACAGCGAATCCTGAATCCCTACACCCTGCTCTCAGTCCCCAGCCT... | benign | 6,203 |
Is the chromosome 1, position 27549006 variant in AHDC1 (AT-hook DNA binding motif containing 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GAAAGCTTAATAAACCAAACTACAGGGCCCCATCCAGTGTGTAGTCCTCTGGCCATTTCAATTCACAAGACCCCCCCGAACGTTCAAGCCCCCTGCTGAGTTCCCAGCCCAAGCACCCCATCTCCTCCTGAGACTGTCCGCAACAGCGAATCCTGAATCCCTACACCCTGCTCTCAGTCCCCAGCCTTGCCCTTAAATCCTGCATTTGCTTCCTGCACTCCATACCTCTGTCCTTGCCTAAGCTCTGATGTCCTCTTCCCACCCCCAGGCCTCTGCCCACTGCGCCCACATCCCCAGACTCACCCAGGAACAAAACCTCG... | GAAAGCTTAATAAACCAAACTACAGGGCCCCATCCAGTGTGTAGTCCTCTGGCCATTTCAATTCACAAGACCCCCCCGAACGTTCAAGCCCCCTGCTGAGTTCCCAGCCCAAGCACCCCATCTCCTCCTGAGACTGTCCGCAACAGCGAATCCTGAATCCCTACACCCTGCTCTCAGTCCCCAGCCTTGCCCTTAAATCCTGCATTTGCTTCCTGCACTCCATACCTCTGTCCTTGCCTAAGCTCTGATGTCCTCTTCCCACCCCCAGGCCTCTGCCCACTGCGCCCACATCCCCAGACTCACCCAGGAACAAAACCTCG... | benign | 6,207 |
Clinically, how would you classify the variant at chromosome 1, position 27549568, gene AHDC1 (AT-hook DNA binding motif containing 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome', 'Delayed_speech_and_language_development', 'Global_developmental_delay', 'Hypotonia', 'Intellectual_disability', 'Neonatal_hypotonia', 'Sleep_apnea'] | AGCAGGGCCACGGGGTGGGCCAGGGGGCCGGGCCATTTCCAGTGGCTCCTTGTCGGCCTTGGGCGTGGCTGGTGGGCTAGCCAGGTGAGGGGCACTGAGGCACGCGGCCTCCGTCCTGCCCAGGAAGTCAGCCAGCAGCCCTGTACCCACCTTGCCTTCATAGGGCGGGCTGCGGGCAGCTGAGCCTGGAGGGTACCAATAGGCTGTGCCCTTGCAGCTGGGGGAATCGTAGTGGGGCTGGCCCAGCGGCAGGTCCCGGCAGCTCAGGTGGGCCTGGGCTGCAGCTGCGTGGCCCAGGCTGGCCCCCTGGAGTCCATGCT... | AGCAGGGCCACGGGGTGGGCCAGGGGGCCGGGCCATTTCCAGTGGCTCCTTGTCGGCCTTGGGCGTGGCTGGTGGGCTAGCCAGGTGAGGGGCACTGAGGCACGCGGCCTCCGTCCTGCCCAGGAAGTCAGCCAGCAGCCCTGTACCCACCTTGCCTTCATAGGGCGGGCTGCGGGCAGCTGAGCCTGGAGGGTACCAATAGGCTGTGCCCTTGCAGCTGGGGGAATCGTAGTGGGGCTGGCCCAGCGGCAGGTCCCGGCAGCTCAGGTGGGCCTGGGCTGCAGCTGCGTGGCCCAGGCTGGCCCCCTGGAGTCCATGCT... | pathogenic | 6,231 |
Determine whether the variant at chromosome 1, position 27549741, in gene AHDC1 (AT-hook DNA binding motif containing 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome', 'Delayed_speech_and_language_development', 'Global_developmental_delay', 'Hypotonia', 'Intellectual_disability', 'Neonatal_hypotonia', 'Sleep_apnea'] | GGGCAGCTGAGCCTGGAGGGTACCAATAGGCTGTGCCCTTGCAGCTGGGGGAATCGTAGTGGGGCTGGCCCAGCGGCAGGTCCCGGCAGCTCAGGTGGGCCTGGGCTGCAGCTGCGTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCGCAGGCAGCCAGCTTTGTGGGCGGTGGCCGCAGCTCTTCCTTGAAGCCCAGTGTAGGCGAGCAGGTGGGCGAGTATGCCTTCTGCAGGCCGGCGTCAAACACCGTGGGTGGGTGGGCCAGCGGTGGGAAATGCTTGCCATCAAGCTCGGGAGCACCCAGGCTG... | GGGCAGCTGAGCCTGGAGGGTACCAATAGGCTGTGCCCTTGCAGCTGGGGGAATCGTAGTGGGGCTGGCCCAGCGGCAGGTCCCGGCAGCTCAGGTGGGCCTGGGCTGCAGCTGCGTGGCCCAGGCTGGCCCCCTGGAGTCCATGCTTGAGGGGCTCGCAGGCAGCCAGCTTTGTGGGCGGTGGCCGCAGCTCTTCCTTGAAGCCCAGTGTAGGCGAGCAGGTGGGCGAGTATGCCTTCTGCAGGCCGGCGTCAAACACCGTGGGTGGGTGGGCCAGCGGTGGGAAATGCTTGCCATCAAGCTCGGGAGCACCCAGGCTG... | pathogenic | 6,236 |
Classify the chromosome 1 variant at position 27550357 affecting gene AHDC1 (AT-hook DNA binding motif containing 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome', 'Neurodevelopmental_abnormality'] | CCGGGGCCCAGTGCTCCGTTTGGATGGGTAGCCTGAGGCAGCGGCAGAGGCGGATGTCGGGAAGCCCAGATGTGAGGCCTCGAACAGGTCCACCTTCTTCCGCCGTCCACGGCCCGGCTTGGAGCTACTCTGAAAGAGGACACTCTGGTTCCAGTTGTAGCCGGGGGCAGATGATGCCTCGTTCCAGTCCATCATCAGTTTCTCCAGGCTGGACAGGCTCGACTGGCCCTCACTACTTGAGGCCTCGCTGTTGGCACGCCGAAACCCCCCGCCACCAACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGA... | CCGGGGCCCAGTGCTCCGTTTGGATGGGTAGCCTGAGGCAGCGGCAGAGGCGGATGTCGGGAAGCCCAGATGTGAGGCCTCGAACAGGTCCACCTTCTTCCGCCGTCCACGGCCCGGCTTGGAGCTACTCTGAAAGAGGACACTCTGGTTCCAGTTGTAGCCGGGGGCAGATGATGCCTCGTTCCAGTCCATCATCAGTTTCTCCAGGCTGGACAGGCTCGACTGGCCCTCACTACTTGAGGCCTCGCTGTTGGCACGCCGAAACCCCCCGCCACCAACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGA... | pathogenic | 6,250 |
Gene AHDC1 (AT-hook DNA binding motif containing 1) variant at chromosome 1, position 27550633—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome'] | AACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGAAGGTCTCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGG... | AACCGGCTGATTGAACTGGGTGCTGTCGGAGGATGACTCAGAGAAGGTCTCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGG... | pathogenic | 6,259 |
Clinical classification of chromosome 1, position 27550682, gene AHDC1 (AT-hook DNA binding motif containing 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome', 'Inborn_genetic_diseases'] | TCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCG... | TCCGACACAGCCGTCTGCTGCTTCACCTTCTGCGGTGTGTAGTTGGAGATGTCCAGGATCACGTTGGGCTCGCTGACGTGGCAGTCAAAACTGGGATTGTAGAGCTGACTAAAGGCCTCTGAGGCCCAGTCCAGGCCTCCATAGCCCTGCCGGAAAGGCCACTGAGAAGCCCCCGCAAACTGCCGACAGTTCTCGGGCGAGGGCTGGAAGGAGGAGGAGGAGGAGGAGGCGGCAGAGGCTGCAGAGGTGGCAGAGGCTGTGGTGCCCTTGGGTACCATGTAGCCACCGGGCGAGACTGTGCTGGCCCGGCTGTCACAGCG... | pathogenic | 6,262 |
Variant at chromosome 1, position 27550993, gene AHDC1 (AT-hook DNA binding motif containing 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['AHDC1-related_disorder', 'AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome'] | GTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGG... | GTCACAGCGCAGGGGCGTGGGGGCTGAACCAGAGAAGGGGGCCCCCTCAGAGCTGCTGAAGAAGGAGGCCTTGCTTGGTGGCAGGCAGGGGCCCCCGGTAGGCGGTGGGGCATAGCCGGCGCTGTGGGCGCTGCTGGGTGAGGCAGGGAGGCTGTTGCCACTGCCATAGGCGAAGCTGCAGTCCTTGCTGTTAGCGCAGTCCTGGCCTGTAAAGGGCTTAGTTGGGGCGAATACGCTTTGTCCGGCCCCATAGCCGCCGTACTGGGGCAGGTAGGTGTTGGCAGGCGGGTGGGTGGTAGGTGAGCGGGCCATGGCTGAGG... | pathogenic | 6,270 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 29200513, gene MECR (mitochondrial trans-2-enoyl-CoA reductase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Childhood_Onset_Dystonias', 'Dystonia,_childhood-onset,_with_optic_atrophy_and_basal_ganglia_abnormalities', 'Mitochondrial_disease', 'Optic_atrophy', 'Optic_atrophy_16'] | TCCCCCTGCAATGACATTGGGATTGAGGTCTGCCGCAGGGGTTGTCTGTCAGGTATAGGGCTGAAGCGGTGTGCTCAAATGTGGGGTCAAGCCTGGCTCTCCTGCTGCCTAGACTTTGGGACAGGTACTTGACCTCTTTGGGCCTTGTTTTTTTTTGTTTGTTTGTTTTTGAGACACACTGTTTCTCTGAAGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACGACCATGCCTGGCTAAT... | TCCCCCTGCAATGACATTGGGATTGAGGTCTGCCGCAGGGGTTGTCTGTCAGGTATAGGGCTGAAGCGGTGTGCTCAAATGTGGGGTCAAGCCTGGCTCTCCTGCTGCCTAGACTTTGGGACAGGTACTTGACCTCTTTGGGCCTTGTTTTTTTTTGTTTGTTTGTTTTTGAGACACACTGTTTCTCTGAAGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACGACCATGCCTGGCTAAT... | pathogenic | 6,343 |
Chromosome 1, position 29216611, gene MECR (mitochondrial trans-2-enoyl-CoA reductase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Childhood_Onset_Dystonias', 'Dystonia,_childhood-onset,_with_optic_atrophy_and_basal_ganglia_abnormalities', 'Optic_atrophy'] | TGTTGGCCAGGCTAGTCTTGAACTCCTGATCTCAGGTGATCCACCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCCAACTTCTTTTTTTAAAGCAAGTTTGAGCTGGGTCGCTGTAAGTTACAACCCAGAAGATCATAACACTGGTGTGTAATGGGAACCCAGGAGAAAGAATCCAGTGGGCACTCTCATTTTGCTGTTTGACTTTGGGCCAGGGCTTTACTTCTCAAGCTTCAATTTATGTCCAATGGATGGATAATACCTGCCCTGCTTCCCTCTTGTAGCTGCTGTGAGGATC... | TGTTGGCCAGGCTAGTCTTGAACTCCTGATCTCAGGTGATCCACCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCCAACTTCTTTTTTTAAAGCAAGTTTGAGCTGGGTCGCTGTAAGTTACAACCCAGAAGATCATAACACTGGTGTGTAATGGGAACCCAGGAGAAAGAATCCAGTGGGCACTCTCATTTTGCTGTTTGACTTTGGGCCAGGGCTTTACTTCTCAAGCTTCAATTTATGTCCAATGGATGGATAATACCTGCCCTGCTTCCCTCTTGTAGCTGCTGTGAGGATC... | pathogenic | 6,363 |
The genetic variant at chromosome 1, position 30936879, affecting gene PUM1 (pumilio RNA binding family member 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | CCCTAACAAGCCACACACACACATGTTGAACTCCATTTTTTATTGGATTTAACAAGAAGTGAAACGTTAATTACCTGCTTCTCTCCTTATGTCCCTTTTGCTGAAAAGGATACCACTTAGTAATGGAAGAGCTGAAAAACTAAGAGGGCTTCTCAGGACTCTCCCCGTCAACTCCCTCAGCCAACCAACTGCTAAGCCCTACCAATTCTAGCACCCTATTCTGTCCACTTCTCTTCAATCCCAAACCACCACCATCTGGTGCCTTGACGGCCTCCCATGTGGTCTCATCACTGCCTCCCTCCTCTAAACTACAAAGGCCA... | CCCTAACAAGCCACACACACACATGTTGAACTCCATTTTTTATTGGATTTAACAAGAAGTGAAACGTTAATTACCTGCTTCTCTCCTTATGTCCCTTTTGCTGAAAAGGATACCACTTAGTAATGGAAGAGCTGAAAAACTAAGAGGGCTTCTCAGGACTCTCCCCGTCAACTCCCTCAGCCAACCAACTGCTAAGCCCTACCAATTCTAGCACCCTATTCTGTCCACTTCTCTTCAATCCCAAACCACCACCATCTGGTGCCTTGACGGCCTCCCATGTGGTCTCATCACTGCCTCCCTCCTCTAAACTACAAAGGCCA... | benign | 6,374 |
A mutation at chromosome position 32786922 on chromosome 1 in gene YARS1: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GTGCCTAACACATGGGCACCTAGTAAGTCTTTTGTTCAAGTGTCTGTTGAAATGAATAGGAGCCTCTATTCTGTCCTTTTATAATTATCTCTTGTTTTTGAATCCTGATTTTGCATCTGTTCCTGAAATACTTCATTTTTGCTGAGTTAGGTCCTTTATTCCAGCCTGCTAAGTCATTTGGAGAGTGATTAAAGCACCAGTATATTAGCATTGTACCATTTGCCTATCGAATCTGGGAACCACCTGAATCCTCATCAAAGCCATTAACAAAATATGCAGCCCTGGAGAGCATAAACAGAGCCCTGGCCGGGCACAGGGGC... | GTGCCTAACACATGGGCACCTAGTAAGTCTTTTGTTCAAGTGTCTGTTGAAATGAATAGGAGCCTCTATTCTGTCCTTTTATAATTATCTCTTGTTTTTGAATCCTGATTTTGCATCTGTTCCTGAAATACTTCATTTTTGCTGAGTTAGGTCCTTTATTCCAGCCTGCTAAGTCATTTGGAGAGTGATTAAAGCACCAGTATATTAGCATTGTACCATTTGCCTATCGAATCTGGGAACCACCTGAATCCTCATCAAAGCCATTAACAAAATATGCAGCCCTGGAGAGCATAAACAGAGCCCTGGCCGGGCACAGGGGC... | benign | 6,474 |
Clinically, how would you classify the variant at chromosome 1, position 33036744, gene AK2: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Reticular_dysgenesis'] | CTATACTAGTATAGGTTGTCCATTCCATAATTACTGAAATTATTAACTTCAATATGAGTTAAGAAAAAAATCTCAGGGCATAGTGGCTTGTGCCTATAATCCCTGCACTTTGGGAGGTCAAGGCAGGATGATCGCCTGTGTCCAGGAGTTCAATACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAATTGTTTAAAAATTAGCTGGGCATGGTAGCATGTGCCTGTACTCCCAGCTACCTGGGAGGGTGAGGTGGGAGGATTGCTTGAGCTCACACCACTGCGCTCCAACCTGGGCAACAGAGTGAGACCC... | CTATACTAGTATAGGTTGTCCATTCCATAATTACTGAAATTATTAACTTCAATATGAGTTAAGAAAAAAATCTCAGGGCATAGTGGCTTGTGCCTATAATCCCTGCACTTTGGGAGGTCAAGGCAGGATGATCGCCTGTGTCCAGGAGTTCAATACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAATTGTTTAAAAATTAGCTGGGCATGGTAGCATGTGCCTGTACTCCCAGCTACCTGGGAGGGTGAGGTGGGAGGATTGCTTGAGCTCACACCACTGCGCTCCAACCTGGGCAACAGAGTGAGACCC... | pathogenic | 6,529 |
Gene mutation in GJB4 (gap junction protein beta 4) at chromosome 1, position 34761406—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AGACCTCAGTATCAGGCTTCCCAGGAAAAGGGCAGGAGAGAGGGCAAGGAGGCAGGGTAAGGAGGCAATGGGAAGGGGACAGGGTCAATCCCACTGGTGCTGTCCTAGGCCTAGGCATAATGATATCAGGCTCCTGAACCCCACACAGCAGTCTCACCCACATACCTGCCTGCCTGGGAGCCAGGCTCAGCCATACCCAGCCAGGCTAGAGAGGAGGCGTGGGCCAGGAGAGAAGAGCCGCAGGTGTTTGCTCTGAGTATGTGCCCGGGGAAGTCCGCCCTCCTGCCTGCCCACCCAATCACTCTCGCTTGGCTCATTGG... | AGACCTCAGTATCAGGCTTCCCAGGAAAAGGGCAGGAGAGAGGGCAAGGAGGCAGGGTAAGGAGGCAATGGGAAGGGGACAGGGTCAATCCCACTGGTGCTGTCCTAGGCCTAGGCATAATGATATCAGGCTCCTGAACCCCACACAGCAGTCTCACCCACATACCTGCCTGCCTGGGAGCCAGGCTCAGCCATACCCAGCCAGGCTAGAGAGGAGGCGTGGGCCAGGAGAGAAGAGCCGCAGGTGTTTGCTCTGAGTATGTGCCCGGGGAAGTCCGCCCTCCTGCCTGCCCACCCAATCACTCTCGCTTGGCTCATTGG... | benign | 6,543 |
Evaluate this variant at chromosome 1, position 35901573, gene AGO1 (argonaute RISC component 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['AGO1-related_disorder', 'Intellectual_disability', 'likely other unspecified diseases'] | TAGTCTTTTGCTAGTGTTAATTCTGTATCTTTAACCACCTGTAGAGAATGCTACAACTTTAAGGCACCTTTAAGAGAGCAATCTCACAAATTTCAATAATTTTGGATTTTCATTACGTGAATTGACTATTTTGTTTATTCTCTGGAATATGGAGTTTGAAGGCAGGTGACCTTGGGCTGGTTTTCCTTCCCATTGTTTACCATGAACTCTGGGAATTAGGACGAGAACTAGTATGTAAAGAATGTTGGCCCTATGGGAGCAAGTTCCTCATTTCATCTCATCTAAATCCTTACAACAAACTCATGAGACAGCTAGTGTAT... | TAGTCTTTTGCTAGTGTTAATTCTGTATCTTTAACCACCTGTAGAGAATGCTACAACTTTAAGGCACCTTTAAGAGAGCAATCTCACAAATTTCAATAATTTTGGATTTTCATTACGTGAATTGACTATTTTGTTTATTCTCTGGAATATGGAGTTTGAAGGCAGGTGACCTTGGGCTGGTTTTCCTTCCCATTGTTTACCATGAACTCTGGGAATTAGGACGAGAACTAGTATGTAAAGAATGTTGGCCCTATGGGAGCAAGTTCCTCATTTCATCTCATCTAAATCCTTACAACAAACTCATGAGACAGCTAGTGTAT... | pathogenic | 6,611 |
Gene RSPO1 (R-spondin 1) variant at chromosome 1, position 37612794—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GTAATTAAAATTAATTTCACCTCATTCCTTTTTATACTGTGGCTACTAGAAAAACATTTTCTTTTTTTATTACTTAATTTTGTTTTGCACACCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTGTCTTTGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCTGGCATTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGAGTAGCTG... | GTAATTAAAATTAATTTCACCTCATTCCTTTTTATACTGTGGCTACTAGAAAAACATTTTCTTTTTTTATTACTTAATTTTGTTTTGCACACCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTGTCTTTGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCTGGCATTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTTTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGAGTAGCTG... | benign | 6,714 |
Mutation at chromosome 1, position 39084245, within MACF1 (microtubule actin crosslinking factor 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CCGAGGGTCGGGCGGGAGCCCGGAGGTCAAACAAGTGTTTGTGAGGGGCCGGAGATTGACGGGGTAGAGCCCAGAAGGGACGCTTTCTCCGGGAGGAGGCCTTGGGAGAGCCGGCCTTTGTAGTGAAATGGGCGTCTTGGAGAGGAATGGGCGGTTCTGGGATGAAGCAGGTGGTCTGAGAGGAGGGGCATTTTTCCTGCCCCCGAGCTGAGGGTAGGGATGGAAGCTTGGCCTGAGTTTCCCAGAGGTTGAGGCTGTCACTTCAGCACCTGCCCTGGCACTAGAAGGTAATGGGAGGAGGGGTAAGTGCTAAGATAAAG... | CCGAGGGTCGGGCGGGAGCCCGGAGGTCAAACAAGTGTTTGTGAGGGGCCGGAGATTGACGGGGTAGAGCCCAGAAGGGACGCTTTCTCCGGGAGGAGGCCTTGGGAGAGCCGGCCTTTGTAGTGAAATGGGCGTCTTGGAGAGGAATGGGCGGTTCTGGGATGAAGCAGGTGGTCTGAGAGGAGGGGCATTTTTCCTGCCCCCGAGCTGAGGGTAGGGATGGAAGCTTGGCCTGAGTTTCCCAGAGGTTGAGGCTGTCACTTCAGCACCTGCCCTGGCACTAGAAGGTAATGGGAGGAGGGGTAAGTGCTAAGATAAAG... | benign | 6,759 |
Variant at chromosome position 39844617, chromosome 1, gene TRIT1 (tRNA isopentenyltransferase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Combined_oxidative_phosphorylation_deficiency_35'] | GAAGGAAGTCAAGCTTTAGGGCCACTGTTGCCTGCTATCAACTGCTGACCTGTCACCCCTAAGACAGTTCCCACCTTCTGACTAACTCATACAGATTTATTTTCACTATCCTGTTCTTTTTTCAAGGAAATCTCATCTGGGAACACTGAAAGAGATGGACAACTAGTTTAAATTCTCTTTTATACATATTAAAAACATCATTTTTAAGAGTTTAGAAGCAAGAATAAGTAAGGTAGAGGTTAGAATTAAGAGAAAAGTTTACTTGGGGAAGAAGTCAGCTTTGTTTTCCAGCTAGAGCCTAAGGCAAAAAACGGGCTTCT... | GAAGGAAGTCAAGCTTTAGGGCCACTGTTGCCTGCTATCAACTGCTGACCTGTCACCCCTAAGACAGTTCCCACCTTCTGACTAACTCATACAGATTTATTTTCACTATCCTGTTCTTTTTTCAAGGAAATCTCATCTGGGAACACTGAAAGAGATGGACAACTAGTTTAAATTCTCTTTTATACATATTAAAAACATCATTTTTAAGAGTTTAGAAGCAAGAATAAGTAAGGTAGAGGTTAGAATTAAGAGAAAAGTTTACTTGGGGAAGAAGTCAGCTTTGTTTTCCAGCTAGAGCCTAAGGCAAAAAACGGGCTTCT... | pathogenic | 6,917 |
Is the genetic variant on chromosome 1, position 39852872, gene TRIT1 (tRNA isopentenyltransferase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Inborn_genetic_diseases', 'Mitochondrial_disease'] | GCATGTTGTACATCCAGCTCATCAGCTTTCTTTTTAAATATGTCAAATTAATGAAGAATGCTCCTGGCTAATCCAGTGCTCTACTGGCACAAAGATCACTGAGAAAAGAACTCACATACTTATTCTTAAGCCACCATCCACTTCTGTCCGTATCTATTATGTTATGCAGCACTAGGTAATTTAACTCCCAAATCTACACTCTACCACTCTGGGTGATTGCAACTTATCAGCCTGAAAGTGATCTTTCTCTTCCTGACCCAATTCTACTTCCTGAAACCCTAACGCAAGAGTGTAGACCCCCTTGTCTTTCAGTATCACTG... | GCATGTTGTACATCCAGCTCATCAGCTTTCTTTTTAAATATGTCAAATTAATGAAGAATGCTCCTGGCTAATCCAGTGCTCTACTGGCACAAAGATCACTGAGAAAAGAACTCACATACTTATTCTTAAGCCACCATCCACTTCTGTCCGTATCTATTATGTTATGCAGCACTAGGTAATTTAACTCCCAAATCTACACTCTACCACTCTGGGTGATTGCAACTTATCAGCCTGAAAGTGATCTTTCTCTTCCTGACCCAATTCTACTTCCTGAAACCCTAACGCAAGAGTGTAGACCCCCTTGTCTTTCAGTATCACTG... | pathogenic | 6,925 |
Is the genetic variant on chromosome 1, position 39854049, gene TRIT1 (tRNA isopentenyltransferase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Combined_oxidative_phosphorylation_deficiency_35', 'Epileptic_encephalopathy', 'TRIT1_Deficiency'] | CTAACATTAAGTTTCACTGAGGGGGGTAAAATTAGGAGGAAAAATATCAAATTCATTTGAGTGGAATACTTCACAACCCCTATGAATATGAGATGTTACTTTAATATTTAATCTGTATAACCATCAATAGAACAGGTCCTTCATTAGATGTTCTACTATGCTGGAAGTGGTATCACTCCTAATACTGCAGAAAAATAAACCTAACATGAGGCTGCAATTCCAAAACAACCTAAAAAAACATGACCTTGTGAGTTCATTCACTACCTCTCTTCCCTACCAGATAGTTTCCATGTGCAAAGGTGAGCTGATCTGTGAGACAG... | CTAACATTAAGTTTCACTGAGGGGGGTAAAATTAGGAGGAAAAATATCAAATTCATTTGAGTGGAATACTTCACAACCCCTATGAATATGAGATGTTACTTTAATATTTAATCTGTATAACCATCAATAGAACAGGTCCTTCATTAGATGTTCTACTATGCTGGAAGTGGTATCACTCCTAATACTGCAGAAAAATAAACCTAACATGAGGCTGCAATTCCAAAACAACCTAAAAAAACATGACCTTGTGAGTTCATTCACTACCTCTCTTCCCTACCAGATAGTTTCCATGTGCAAAGGTGAGCTGATCTGTGAGACAG... | pathogenic | 6,928 |
Is chromosome 1, position 40073531, gene PPT1 (palmitoyl-protein thioesterase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CTATGGAACGGGCAGAAGTTGGTCACCACAGTGACAGAAATTGCTGGATAAGCGAAGTGCCACTGGGTTCTTTGCCCTCCCTTCACACCATGGGATAAATCTGTATCAAGACGGTTCTTTTCTAGATTTCCTCTACCTTTTTGCTCTTAAAACTGCTTCTCTGCTCTGAGAAGCACAGCTACCTGCCTTCACTGAAATATACCTCAGGCTGAAATTTGGGGTGGGATAGCAGGTCAGTTGATCTTCTGCAGGAAGGTGCAGCTTTTCCATATCAGCTCAACCACGCCGCCAGTCCATTCTTAAGGAACTGCCGACTAGGA... | CTATGGAACGGGCAGAAGTTGGTCACCACAGTGACAGAAATTGCTGGATAAGCGAAGTGCCACTGGGTTCTTTGCCCTCCCTTCACACCATGGGATAAATCTGTATCAAGACGGTTCTTTTCTAGATTTCCTCTACCTTTTTGCTCTTAAAACTGCTTCTCTGCTCTGAGAAGCACAGCTACCTGCCTTCACTGAAATATACCTCAGGCTGAAATTTGGGGTGGGATAGCAGGTCAGTTGATCTTCTGCAGGAAGGTGCAGCTTTTCCATATCAGCTCAACCACGCCGCCAGTCCATTCTTAAGGAACTGCCGACTAGGA... | benign | 6,961 |
The chromosome 1, position 40074171 genetic variant in gene PPT1 (palmitoyl-protein thioesterase 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis_1'] | GAGATAGGAGAGTCTCTGGTACTAGCTGCTGTAGCAGTGCCCTTCATCCAGGGCAGTTAATGGAGTCTTGGACCCTTTCTTTCTCTGGGATCCCTGCCCAGCACCTTCCTATAGAGATGACTTTAAAAGGAAAAAAAAAAAAAAAAAAACCCACATGATTTCAAGGAGTCTGGCATTCCTGAATCCTTCTTCCCTGCCAGGTGCCTGTCACCTGTCTTCACTGCCTCCTTTTCCCTGTCATGCTCATCAGCTTATGGCTTCTGTCTAAGCACCTGAACAGAGGACTGAAACCTCCACTGCAGGCTGGTTTTAGGTCTTGA... | GAGATAGGAGAGTCTCTGGTACTAGCTGCTGTAGCAGTGCCCTTCATCCAGGGCAGTTAATGGAGTCTTGGACCCTTTCTTTCTCTGGGATCCCTGCCCAGCACCTTCCTATAGAGATGACTTTAAAAGGAAAAAAAAAAAAAAAAAAACCCACATGATTTCAAGGAGTCTGGCATTCCTGAATCCTTCTTCCCTGCCAGGTGCCTGTCACCTGTCTTCACTGCCTCCTTTTCCCTGTCATGCTCATCAGCTTATGGCTTCTGTCTAAGCACCTGAACAGAGGACTGAAACCTCCACTGCAGGCTGGTTTTAGGTCTTGA... | pathogenic | 6,968 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 40074182, gene PPT1 (palmitoyl-protein thioesterase 1): what disease(s) if pathogenic? | pathogenic; ['Neuronal_ceroid_lipofuscinosis_1'] | GTCTCTGGTACTAGCTGCTGTAGCAGTGCCCTTCATCCAGGGCAGTTAATGGAGTCTTGGACCCTTTCTTTCTCTGGGATCCCTGCCCAGCACCTTCCTATAGAGATGACTTTAAAAGGAAAAAAAAAAAAAAAAAAACCCACATGATTTCAAGGAGTCTGGCATTCCTGAATCCTTCTTCCCTGCCAGGTGCCTGTCACCTGTCTTCACTGCCTCCTTTTCCCTGTCATGCTCATCAGCTTATGGCTTCTGTCTAAGCACCTGAACAGAGGACTGAAACCTCCACTGCAGGCTGGTTTTAGGTCTTGAATTATGTAAGA... | GTCTCTGGTACTAGCTGCTGTAGCAGTGCCCTTCATCCAGGGCAGTTAATGGAGTCTTGGACCCTTTCTTTCTCTGGGATCCCTGCCCAGCACCTTCCTATAGAGATGACTTTAAAAGGAAAAAAAAAAAAAAAAAAACCCACATGATTTCAAGGAGTCTGGCATTCCTGAATCCTTCTTCCCTGCCAGGTGCCTGTCACCTGTCTTCACTGCCTCCTTTTCCCTGTCATGCTCATCAGCTTATGGCTTCTGTCTAAGCACCTGAACAGAGGACTGAAACCTCCACTGCAGGCTGGTTTTAGGTCTTGAATTATGTAAGA... | pathogenic | 6,969 |
Regarding the variant found on chromosome 1 at position 40076863 in gene PPT1 (palmitoyl-protein thioesterase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis_1'] | ATACAGTGTTCTAGATTCTGATTTTTGAAAAGCTCAGAGTCAGAGGACTACCTATAGGTGGGCAAGCCATAGACGACACTGCCTCAGAATGCCATAGGTAAGTGGGACTGAGCCAAAGACAGAACATTAGCTAGGTAACTTAAAAAACATCCAACCCAGGACAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGATGGCCAAGGCAGGCGGATCACCTGTGGTCAGGAGTTCAAGACCAGCCTGACCAATATGATGACACTTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTA... | ATACAGTGTTCTAGATTCTGATTTTTGAAAAGCTCAGAGTCAGAGGACTACCTATAGGTGGGCAAGCCATAGACGACACTGCCTCAGAATGCCATAGGTAAGTGGGACTGAGCCAAAGACAGAACATTAGCTAGGTAACTTAAAAAACATCCAACCCAGGACAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGATGGCCAAGGCAGGCGGATCACCTGTGGTCAGGAGTTCAAGACCAGCCTGACCAATATGATGACACTTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTA... | pathogenic | 6,975 |
Evaluate if the mutation on chromosome 1 at position 40078564 in PPT1 (palmitoyl-protein thioesterase 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Neuronal_ceroid_lipofuscinosis_1'] | GTAGCAGACTGTACCTCAGCCAAGGCAGCTAGTTTTAAAACCTTTTTATCAAAAGAAGGGAATCAGACATGAGGTTTCTCTTGTTGTTTGGAAACCATAAGGTTTCAGGATGTAGTGGATTTTTGTAACCCAGTGCCTAATAAGCTAGAGCACATAATCAAGAGCCTAACAAGCTTCACCCATATTGGACATGAGTCAGGTGTTTCAGGAGTACCTAGTGCTCTGAGGTGTAAAGGAAAGGGCTCCAGCACCAAAGAACATAGCAGCTTCAGGAACTGGGAGCTGAAAAAACACCAACCTCCCAAGATAGACTCCCTGCC... | GTAGCAGACTGTACCTCAGCCAAGGCAGCTAGTTTTAAAACCTTTTTATCAAAAGAAGGGAATCAGACATGAGGTTTCTCTTGTTGTTTGGAAACCATAAGGTTTCAGGATGTAGTGGATTTTTGTAACCCAGTGCCTAATAAGCTAGAGCACATAATCAAGAGCCTAACAAGCTTCACCCATATTGGACATGAGTCAGGTGTTTCAGGAGTACCTAGTGCTCTGAGGTGTAAAGGAAAGGGCTCCAGCACCAAAGAACATAGCAGCTTCAGGAACTGGGAGCTGAAAAAACACCAACCTCCCAAGATAGACTCCCTGCC... | pathogenic | 6,980 |
Clinical significance of chromosome 1, position 40078632, gene PPT1 (palmitoyl-protein thioesterase 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Neuronal_ceroid_lipofuscinosis_1'] | ATGAGGTTTCTCTTGTTGTTTGGAAACCATAAGGTTTCAGGATGTAGTGGATTTTTGTAACCCAGTGCCTAATAAGCTAGAGCACATAATCAAGAGCCTAACAAGCTTCACCCATATTGGACATGAGTCAGGTGTTTCAGGAGTACCTAGTGCTCTGAGGTGTAAAGGAAAGGGCTCCAGCACCAAAGAACATAGCAGCTTCAGGAACTGGGAGCTGAAAAAACACCAACCTCCCAAGATAGACTCCCTGCCAGTTACCTGTGTGTACAGGGAGGTCTCCTGTAAGGGAATGGTTTCCTTGGCTTGGCCACTTCTGTAAA... | ATGAGGTTTCTCTTGTTGTTTGGAAACCATAAGGTTTCAGGATGTAGTGGATTTTTGTAACCCAGTGCCTAATAAGCTAGAGCACATAATCAAGAGCCTAACAAGCTTCACCCATATTGGACATGAGTCAGGTGTTTCAGGAGTACCTAGTGCTCTGAGGTGTAAAGGAAAGGGCTCCAGCACCAAAGAACATAGCAGCTTCAGGAACTGGGAGCTGAAAAAACACCAACCTCCCAAGATAGACTCCCTGCCAGTTACCTGTGTGTACAGGGAGGTCTCCTGTAAGGGAATGGTTTCCTTGGCTTGGCCACTTCTGTAAA... | pathogenic | 6,984 |
The mutation impacting PPT1 (palmitoyl-protein thioesterase 1) on chromosome 1 at position 40078655: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Neuronal_ceroid_lipofuscinosis_1'] | AAACCATAAGGTTTCAGGATGTAGTGGATTTTTGTAACCCAGTGCCTAATAAGCTAGAGCACATAATCAAGAGCCTAACAAGCTTCACCCATATTGGACATGAGTCAGGTGTTTCAGGAGTACCTAGTGCTCTGAGGTGTAAAGGAAAGGGCTCCAGCACCAAAGAACATAGCAGCTTCAGGAACTGGGAGCTGAAAAAACACCAACCTCCCAAGATAGACTCCCTGCCAGTTACCTGTGTGTACAGGGAGGTCTCCTGTAAGGGAATGGTTTCCTTGGCTTGGCCACTTCTGTAAAATCCAAACCACTGCAGAAGAAGC... | AAACCATAAGGTTTCAGGATGTAGTGGATTTTTGTAACCCAGTGCCTAATAAGCTAGAGCACATAATCAAGAGCCTAACAAGCTTCACCCATATTGGACATGAGTCAGGTGTTTCAGGAGTACCTAGTGCTCTGAGGTGTAAAGGAAAGGGCTCCAGCACCAAAGAACATAGCAGCTTCAGGAACTGGGAGCTGAAAAAACACCAACCTCCCAAGATAGACTCCCTGCCAGTTACCTGTGTGTACAGGGAGGTCTCCTGTAAGGGAATGGTTTCCTTGGCTTGGCCACTTCTGTAAAATCCAAACCACTGCAGAAGAAGC... | pathogenic | 6,987 |
Gene PPT1 (palmitoyl-protein thioesterase 1) variant at chromosome 1, position 40089490—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Neuronal_ceroid_lipofuscinosis_1'] | CATGTTGGCCAGGCTGGTCTTGAACTCCAGGCCTCAAGTGATCTGCCTACCAAGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACTGCGCCCCGCCTTAATCAGTATTTAGGTGTCACTTGTCACCCCCCGACGGACTGCTCACTTAGCATCACTAACAGAATTCTGATCGCCAAGGGTTGTTTTGGTTCACACAAAGAAAGAAAAGTATAGGCGTTTTGGAGGCAACTGGGCAAGAGTGAGAATAAAGAGTAAAGGAAGAAGAATGAAGTTTAAATACCATGCAAATCCATGAGAACAGAGAATATGTAGAATA... | CATGTTGGCCAGGCTGGTCTTGAACTCCAGGCCTCAAGTGATCTGCCTACCAAGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACTGCGCCCCGCCTTAATCAGTATTTAGGTGTCACTTGTCACCCCCCGACGGACTGCTCACTTAGCATCACTAACAGAATTCTGATCGCCAAGGGTTGTTTTGGTTCACACAAAGAAAGAAAAGTATAGGCGTTTTGGAGGCAACTGGGCAAGAGTGAGAATAAAGAGTAAAGGAAGAAGAATGAAGTTTAAATACCATGCAAATCCATGAGAACAGAGAATATGTAGAATA... | pathogenic | 7,010 |
Mutation found at chromosome 1 position 40091320, gene PPT1 (palmitoyl-protein thioesterase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GCGAAACTCCATCTCAAAAAAAAAGATCTCATTTGAATATCACAAGGAACTACTGCTGGAATCACTGTGAGCATGAAAGTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAA... | GCGAAACTCCATCTCAAAAAAAAAGATCTCATTTGAATATCACAAGGAACTACTGCTGGAATCACTGTGAGCATGAAAGTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAA... | benign | 7,016 |
Determine whether the variant at chromosome 1, position 40091363, in gene PPT1 (palmitoyl-protein thioesterase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_1'] | AAGGAACTACTGCTGGAATCACTGTGAGCATGAAAGTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAAACAAAATGAACAGGACCAAACTCTGATTTCATTCACTTATTCC... | AAGGAACTACTGCTGGAATCACTGTGAGCATGAAAGTCAGCATGATATTTTCACACGGTGACAGGTCTGTAATCTTTTCAGCTAACCATACATACCGTTCCTGAACAACTTTGGAGTACGCCCCAGCATTCAGTGTTTTTCGGATGAAGTCACAGATGTGAGAGCTCTCTCCTGGGCATCGAGGGAGTCCAAAAACACCTACAGTGGTAGATGACAAATATCCACTCCTTCAATAATGATGTATCGAATACCCACTATGCACAAGGCACTGTGAGAAACAAAATGAACAGGACCAAACTCTGATTTCATTCACTTATTCC... | pathogenic | 7,021 |
Located at chromosome 1 position 40092068, the variant affecting gene PPT1 (palmitoyl-protein thioesterase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Neuronal_ceroid_lipofuscinosis_1'] | TAAATACCTTGTCCAAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTAT... | TAAATACCTTGTCCAAGGTTAGACAATAAGGTATAAGCCAGGATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTAT... | pathogenic | 7,031 |
Is the variant located on chromosome 1 at position 40092109, gene PPT1 (palmitoyl-protein thioesterase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Neuronal_ceroid_lipofuscinosis_1'] | GATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCA... | GATTCAGACACAGGCAGTTTGGCCCCAGAGCCCACTCCTTTAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCA... | pathogenic | 7,034 |
Variant at chromosome position 40092149, chromosome 1, gene PPT1 (palmitoyl-protein thioesterase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_1'] | TAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTG... | TAAGCACTACAACCACTAGTGTGTCCTTCGAACAGTATCCTGTTGTTTTTTTCCAAGAGATTGGGTCTTGCTATGTTGCCTAGACTAAAGTGCAATGGCTATTCACAGGCACAATTACAGCACACCACAGTGTCTTGAACTCCTGGCTTCAAATGATCCTCCAGCCTCAGCCTCCCAAGTAGCAGGGACTACAGGTGTACACCACCATGTGCCCAGCTATCCTCCATTTTATCGTGTATATATATATATGTGTGTGTGTATATATGTGTATATAAGTGCATATGTGTGTATATATATGTCTATATATGTCTATGTATGTG... | pathogenic | 7,036 |
Clinically, how would you classify the variant at chromosome 1, position 40092447, gene PPT1 (palmitoyl-protein thioesterase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Neuronal_ceroid_lipofuscinosis_1'] | TCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCT... | TCTATATATGTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCT... | pathogenic | 7,044 |
Mutation found at chromosome 1 position 40092456, gene PPT1 (palmitoyl-protein thioesterase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis_1'] | GTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGA... | GTCTATGTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGA... | pathogenic | 7,046 |
Determine if the mutation at chromosome 1, position 40092462 in gene PPT1 (palmitoyl-protein thioesterase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_1'] | GTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAA... | GTATGTGTGTATATAGGTGCATATGTGTATATATATGTCTATGTATGTATGTGCATATATGTGCACATGTGTGTGTGTATATATATATATTTCATGAATGCAAGAACCTTGTCTGTCTTGTTCCTGGCATATAATAGGTTTTCAATAAATATTTGTTAAATGAATGAATAATAAAGCTGTTTTTACCAACTTACGTTTGTATAATCCTTATACTTTTAAAAAGTATTTTCCTACCTATTATTTCACTTTATCCTCTGAAAAATTCCCATAGGACAGGCAGGGCCATATTTTGGTTTCTTCCATCTGTGAGTGGAACCTAA... | pathogenic | 7,047 |
Is chromosome 1, position 40097197, gene PPT1 (palmitoyl-protein thioesterase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Neuronal_ceroid_lipofuscinosis_1'] | CATGACCTATCAACATTTGATGCAGTTGATCATGCCCTTCTTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACAT... | CATGACCTATCAACATTTGATGCAGTTGATCATGCCCTTCTTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACAT... | pathogenic | 7,054 |
Variant in gene PPT1 (palmitoyl-protein thioesterase 1), located at chromosome 1 position 40097197: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Neuronal_ceroid_lipofuscinosis_1'] | CATGACCTATCAACATTTGATGCAGTTGATCATGCCCTTCTTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACAT... | CATGACCTATCAACATTTGATGCAGTTGATCATGCCCTTCTTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACAT... | pathogenic | 7,055 |
Clinically, how would you classify the variant at chromosome 1, position 40097217, gene PPT1 (palmitoyl-protein thioesterase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Neuronal_ceroid_lipofuscinosis_1', 'PPT1-related_disorder'] | TGCAGTTGATCATGCCCTTCTTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGG... | TGCAGTTGATCATGCCCTTCTTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGG... | pathogenic | 7,058 |
Variant chromosome 1, position 40097232, gene PPT1 (palmitoyl-protein thioesterase 1): benign or pathogenic? Disease(s)? | pathogenic; ['Neuronal_ceroid_lipofuscinosis_1'] | CCTTCTTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTA... | CCTTCTTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTA... | pathogenic | 7,060 |
Mutation at chromosome 1, position 40258319, within ZMPSTE24: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Lethal_tight_skin_contracture_syndrome'] | TAAATTCAAATAGTTGCAATGGATGTAAATTCTTGCAAATTGTAAATACTGACATTTTAAGATAAAACTGTTAAATCACTCTTTATAATGTATCCAAGAGAATCTACATAACAACTGAATAACCACCATTATGCATTAAAACATACACTAATGAGCTCTTCAACATTGTTCTTTTATTATCTCTAACATATTTAGATTGTACTCTAACAAAAAATGTTATTCAAATATAGTACTTTGATGTTTGAACAACCTTTTCTTGATCACTTCTTCGCAATAAAAATATGACATATGTAGTAAACCTTAAAAAATTTCGTGTAACT... | TAAATTCAAATAGTTGCAATGGATGTAAATTCTTGCAAATTGTAAATACTGACATTTTAAGATAAAACTGTTAAATCACTCTTTATAATGTATCCAAGAGAATCTACATAACAACTGAATAACCACCATTATGCATTAAAACATACACTAATGAGCTCTTCAACATTGTTCTTTTATTATCTCTAACATATTTAGATTGTACTCTAACAAAAAATGTTATTCAAATATAGTACTTTGATGTTTGAACAACCTTTTCTTGATCACTTCTTCGCAATAAAAATATGACATATGTAGTAAACCTTAAAAAATTTCGTGTAACT... | pathogenic | 7,075 |
Variant chromosome 1, position 40290870, gene ZMPSTE24 (zinc metallopeptidase STE24): benign or pathogenic? Disease(s)? | pathogenic; ['Lethal_tight_skin_contracture_syndrome', 'Mandibuloacral_dysplasia_with_type_B_lipodystrophy', 'Restrictive_dermopathy_1', 'ZMPSTE24-related_disorder'] | ATAATTCAGCCGAACCATTTTTTTCCCACTGCCAATAAATTAGGATATATATCCTTGCCTCAGGCTCTCTCTCCTCCCAGGCTGAGTAGACAGTGAGATATACACCTTAAAGTTCACCTCACCGAGAGTAATTCCCTTCACCACTGCCTTCCAAGACCATCCCTGAGTGGCTCTGTAATACCACAGCAGTCCACTTTCATCTGGTGCCAGCATATTGTATTAAGTTATTGTAAAATAGGCTCTGATTTTGTTCCTGTTCAACTAATTGATTATAGGGAACAGCATATGAGTAAGGGTTGGTTGAGGGTTGTTGGTGGTAG... | ATAATTCAGCCGAACCATTTTTTTCCCACTGCCAATAAATTAGGATATATATCCTTGCCTCAGGCTCTCTCTCCTCCCAGGCTGAGTAGACAGTGAGATATACACCTTAAAGTTCACCTCACCGAGAGTAATTCCCTTCACCACTGCCTTCCAAGACCATCCCTGAGTGGCTCTGTAATACCACAGCAGTCCACTTTCATCTGGTGCCAGCATATTGTATTAAGTTATTGTAAAATAGGCTCTGATTTTGTTCCTGTTCAACTAATTGATTATAGGGAACAGCATATGAGTAAGGGTTGGTTGAGGGTTGTTGGTGGTAG... | pathogenic | 7,092 |
Chromosome 1, position 40290925, gene ZMPSTE24 (zinc metallopeptidase STE24): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Mandibuloacral_dysplasia_with_type_B_lipodystrophy', 'ZMPSTE24-related_disorder'] | TGCCTCAGGCTCTCTCTCCTCCCAGGCTGAGTAGACAGTGAGATATACACCTTAAAGTTCACCTCACCGAGAGTAATTCCCTTCACCACTGCCTTCCAAGACCATCCCTGAGTGGCTCTGTAATACCACAGCAGTCCACTTTCATCTGGTGCCAGCATATTGTATTAAGTTATTGTAAAATAGGCTCTGATTTTGTTCCTGTTCAACTAATTGATTATAGGGAACAGCATATGAGTAAGGGTTGGTTGAGGGTTGTTGGTGGTAGGAGTTGGTGTACTAGAGTATGAGCCATCTGCTTATTTAACTTACTGGTGCCTTCA... | TGCCTCAGGCTCTCTCTCCTCCCAGGCTGAGTAGACAGTGAGATATACACCTTAAAGTTCACCTCACCGAGAGTAATTCCCTTCACCACTGCCTTCCAAGACCATCCCTGAGTGGCTCTGTAATACCACAGCAGTCCACTTTCATCTGGTGCCAGCATATTGTATTAAGTTATTGTAAAATAGGCTCTGATTTTGTTCCTGTTCAACTAATTGATTATAGGGAACAGCATATGAGTAAGGGTTGGTTGAGGGTTGTTGGTGGTAGGAGTTGGTGTACTAGAGTATGAGCCATCTGCTTATTTAACTTACTGGTGCCTTCA... | pathogenic | 7,093 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 40302811, gene COL9A2 (collagen type IX alpha 2 chain): what disease(s) if pathogenic? | benign | CAGTCATTGGTCCTCAAGCTGAGGGGTGGAACTGTAGCTGGGCAGGGCCCGGGCCTCCCGAGGTGCCCATGTCCCACTGACCCAAGGACAAGATGGCCAGTGGAGAAAGGTGCAGATTAAGATGTTTGTTTTGGTAACAGCCGAATGATGCTCGCTGGAAGGAAAGCCGCCCTATTCCTTCAGCGCTTCGACTCCATCGACACCACTTGCCCTGTGTGTTGGCCTCACTTTTTCACCCATCAGTGCTCTACCTCCCCTTCCCCCATGTTTTAGAATTCCTTTTCCTTAGGACTCCTGAGTCCCAGACAGAAGGTCCTGGG... | CAGTCATTGGTCCTCAAGCTGAGGGGTGGAACTGTAGCTGGGCAGGGCCCGGGCCTCCCGAGGTGCCCATGTCCCACTGACCCAAGGACAAGATGGCCAGTGGAGAAAGGTGCAGATTAAGATGTTTGTTTTGGTAACAGCCGAATGATGCTCGCTGGAAGGAAAGCCGCCCTATTCCTTCAGCGCTTCGACTCCATCGACACCACTTGCCCTGTGTGTTGGCCTCACTTTTTCACCCATCAGTGCTCTACCTCCCCTTCCCCCATGTTTTAGAATTCCTTTTCCTTAGGACTCCTGAGTCCCAGACAGAAGGTCCTGGG... | benign | 7,117 |
A genetic alteration at chromosome 1, position 40302811, in gene COL9A2 (collagen type IX alpha 2 chain)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CAGTCATTGGTCCTCAAGCTGAGGGGTGGAACTGTAGCTGGGCAGGGCCCGGGCCTCCCGAGGTGCCCATGTCCCACTGACCCAAGGACAAGATGGCCAGTGGAGAAAGGTGCAGATTAAGATGTTTGTTTTGGTAACAGCCGAATGATGCTCGCTGGAAGGAAAGCCGCCCTATTCCTTCAGCGCTTCGACTCCATCGACACCACTTGCCCTGTGTGTTGGCCTCACTTTTTCACCCATCAGTGCTCTACCTCCCCTTCCCCCATGTTTTAGAATTCCTTTTCCTTAGGACTCCTGAGTCCCAGACAGAAGGTCCTGGG... | CAGTCATTGGTCCTCAAGCTGAGGGGTGGAACTGTAGCTGGGCAGGGCCCGGGCCTCCCGAGGTGCCCATGTCCCACTGACCCAAGGACAAGATGGCCAGTGGAGAAAGGTGCAGATTAAGATGTTTGTTTTGGTAACAGCCGAATGATGCTCGCTGGAAGGAAAGCCGCCCTATTCCTTCAGCGCTTCGACTCCATCGACACCACTTGCCCTGTGTGTTGGCCTCACTTTTTCACCCATCAGTGCTCTACCTCCCCTTCCCCCATGTTTTAGAATTCCTTTTCCTTAGGACTCCTGAGTCCCAGACAGAAGGTCCTGGG... | benign | 7,118 |
Gene COL9A2 (collagen type IX alpha 2 chain) variant at chromosome 1, position 40302811—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CAGTCATTGGTCCTCAAGCTGAGGGGTGGAACTGTAGCTGGGCAGGGCCCGGGCCTCCCGAGGTGCCCATGTCCCACTGACCCAAGGACAAGATGGCCAGTGGAGAAAGGTGCAGATTAAGATGTTTGTTTTGGTAACAGCCGAATGATGCTCGCTGGAAGGAAAGCCGCCCTATTCCTTCAGCGCTTCGACTCCATCGACACCACTTGCCCTGTGTGTTGGCCTCACTTTTTCACCCATCAGTGCTCTACCTCCCCTTCCCCCATGTTTTAGAATTCCTTTTCCTTAGGACTCCTGAGTCCCAGACAGAAGGTCCTGGG... | CAGTCATTGGTCCTCAAGCTGAGGGGTGGAACTGTAGCTGGGCAGGGCCCGGGCCTCCCGAGGTGCCCATGTCCCACTGACCCAAGGACAAGATGGCCAGTGGAGAAAGGTGCAGATTAAGATGTTTGTTTTGGTAACAGCCGAATGATGCTCGCTGGAAGGAAAGCCGCCCTATTCCTTCAGCGCTTCGACTCCATCGACACCACTTGCCCTGTGTGTTGGCCTCACTTTTTCACCCATCAGTGCTCTACCTCCCCTTCCCCCATGTTTTAGAATTCCTTTTCCTTAGGACTCCTGAGTCCCAGACAGAAGGTCCTGGG... | benign | 7,119 |
Considering the genetic mutation at chromosome 1, position 40302816, impacting COL9A2 (collagen type IX alpha 2 chain): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ATTGGTCCTCAAGCTGAGGGGTGGAACTGTAGCTGGGCAGGGCCCGGGCCTCCCGAGGTGCCCATGTCCCACTGACCCAAGGACAAGATGGCCAGTGGAGAAAGGTGCAGATTAAGATGTTTGTTTTGGTAACAGCCGAATGATGCTCGCTGGAAGGAAAGCCGCCCTATTCCTTCAGCGCTTCGACTCCATCGACACCACTTGCCCTGTGTGTTGGCCTCACTTTTTCACCCATCAGTGCTCTACCTCCCCTTCCCCCATGTTTTAGAATTCCTTTTCCTTAGGACTCCTGAGTCCCAGACAGAAGGTCCTGGGGGAGA... | ATTGGTCCTCAAGCTGAGGGGTGGAACTGTAGCTGGGCAGGGCCCGGGCCTCCCGAGGTGCCCATGTCCCACTGACCCAAGGACAAGATGGCCAGTGGAGAAAGGTGCAGATTAAGATGTTTGTTTTGGTAACAGCCGAATGATGCTCGCTGGAAGGAAAGCCGCCCTATTCCTTCAGCGCTTCGACTCCATCGACACCACTTGCCCTGTGTGTTGGCCTCACTTTTTCACCCATCAGTGCTCTACCTCCCCTTCCCCCATGTTTTAGAATTCCTTTTCCTTAGGACTCCTGAGTCCCAGACAGAAGGTCCTGGGGGAGA... | benign | 7,120 |
The chromosome 1, position 40303571 genetic variant in gene COL9A2 (collagen type IX alpha 2 chain): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Epiphyseal_dysplasia,_multiple,_2', 'Stickler_syndrome,_type_5'] | TGTGATTGTCCCCTACCCCCAGCTCCCAATCAGTGAGCTTTGGGAGCAAACATCCCTTCCATCACCTCTGTGAAGTGATGGTGGTGGATCCTGGGAAGTCCTGAGAGGCCCAGCTTCCAGAGCTGGAACCACCCAGAGACTCCGGGGTGCTCCAAAGGGGTGCAGAAGCTGGGTATCAAGGACTGAGCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACCGCAGTGTCCACACGTCATTAATTCCCAAGCTGAGGAACACACTGCAGCTGGGCAGGGCCAATGGCTTACCTGGGATCCCTGGGGGCCCAGGCATCCCGGG... | TGTGATTGTCCCCTACCCCCAGCTCCCAATCAGTGAGCTTTGGGAGCAAACATCCCTTCCATCACCTCTGTGAAGTGATGGTGGTGGATCCTGGGAAGTCCTGAGAGGCCCAGCTTCCAGAGCTGGAACCACCCAGAGACTCCGGGGTGCTCCAAAGGGGTGCAGAAGCTGGGTATCAAGGACTGAGCTGGCTGAGCGTGAGGCCGCCATGGAGGAGACCGCAGTGTCCACACGTCATTAATTCCCAAGCTGAGGAACACACTGCAGCTGGGCAGGGCCAATGGCTTACCTGGGATCCCTGGGGGCCCAGGCATCCCGGG... | pathogenic | 7,128 |
Does the variant impacting COL9A2 (collagen type IX alpha 2 chain) on chromosome 1, position 40307477, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TGTTTAGTGAATGTTTATGCAATGAATAAATGAACGAACAACTCTGCCTGTTGGATTCCCAGCCCATCAACTTGGCCATCTAGGAAAGTCACACTCCAGAACAGAGCCAGTCCCCACCCTCCCTGCAATGTACATAGGGAAACAGGCCCAGGGAGGAGAAAGAGCTTCCCTGAATCATTGGGTCAGGGCAGAGCCAGACTAACTCGGAGCTCTCCCTAGGTTAGGGCTCCACCCCATGGCCTCACCCTAAAGCAGGAACCCTTGTGTCAGTGCAGGGGGCATTTACCTCTTTCCCAGGGGGACCAGAGAATCCAGGAAGG... | TGTTTAGTGAATGTTTATGCAATGAATAAATGAACGAACAACTCTGCCTGTTGGATTCCCAGCCCATCAACTTGGCCATCTAGGAAAGTCACACTCCAGAACAGAGCCAGTCCCCACCCTCCCTGCAATGTACATAGGGAAACAGGCCCAGGGAGGAGAAAGAGCTTCCCTGAATCATTGGGTCAGGGCAGAGCCAGACTAACTCGGAGCTCTCCCTAGGTTAGGGCTCCACCCCATGGCCTCACCCTAAAGCAGGAACCCTTGTGTCAGTGCAGGGGGCATTTACCTCTTTCCCAGGGGGACCAGAGAATCCAGGAAGG... | benign | 7,159 |
Evaluate if the mutation on chromosome 1 at position 40311460 in COL9A2 (collagen type IX alpha 2 chain) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CCCCAACAGGTCTATTAATTGGGAAAAAAAAAAAAAAAGAGTTAAGAGAACTGGGATCGAGACCAAATCCCATTAGCCCCATGGCTGATTTGCTGGAATCTCATTGTCTGGCCCCAGTGACCATGGGACTGGATCCCAGGGCTTCGCCTAAAGTCTGAATTTGGGCTGACTGGGCTCTTGGCACAGATGGTCCTCCCCAGCAGGTCACCCACTTGGGCAGACACACACACACTCACTCACACACACATACATACACTCACAGTCACACACACACACTCAGAGATATCCTCACACACTCACATACACATACTACACACACT... | CCCCAACAGGTCTATTAATTGGGAAAAAAAAAAAAAAAGAGTTAAGAGAACTGGGATCGAGACCAAATCCCATTAGCCCCATGGCTGATTTGCTGGAATCTCATTGTCTGGCCCCAGTGACCATGGGACTGGATCCCAGGGCTTCGCCTAAAGTCTGAATTTGGGCTGACTGGGCTCTTGGCACAGATGGTCCTCCCCAGCAGGTCACCCACTTGGGCAGACACACACACACTCACTCACACACACATACATACACTCACAGTCACACACACACACTCAGAGATATCCTCACACACTCACATACACATACTACACACACT... | benign | 7,182 |
Variant at chromosome position 40819438, chromosome 1, gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_2A', 'Nonsyndromic_genetic_hearing_loss', 'likely other unspecified diseases'] | TGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGG... | TGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGG... | pathogenic | 7,242 |
Is chromosome 1, position 40822298, gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | ACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCC... | ACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCC... | benign | 7,260 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 41001009, gene CTPS1 (CTP synthase 1): what disease(s) if pathogenic? | benign | ATCCACTTGGAGTTAGTCTGTGGCTGCCATGTGTTTGTCAGGTGGCAGAGGATGAGAGATGGATGAAAAGGCAACGGTCTCCGCCTTTAAGGAATATTGAGTCTCTTAGGAAGGAAGGAGCACATAGGAGAGGCTGAACCTGCTGTGGCAGACACATGAGGAAGGCAGACTTCCTCATGGAGGGACACCAGGTTGGGTTGGGTAGGATGGAGAAGGCTCGGAAGGGGCATTCCTGTTAGAATAGATAGAGCACGTCCAAGGGCTTGGAGATGTGGAGCAGTTGGAAACACTGTGGATGGAAATTGTGAATTGGAGGCTGT... | ATCCACTTGGAGTTAGTCTGTGGCTGCCATGTGTTTGTCAGGTGGCAGAGGATGAGAGATGGATGAAAAGGCAACGGTCTCCGCCTTTAAGGAATATTGAGTCTCTTAGGAAGGAAGGAGCACATAGGAGAGGCTGAACCTGCTGTGGCAGACACATGAGGAAGGCAGACTTCCTCATGGAGGGACACCAGGTTGGGTTGGGTAGGATGGAGAAGGCTCGGAAGGGGCATTCCTGTTAGAATAGATAGAGCACGTCCAAGGGCTTGGAGATGTGGAGCAGTTGGAAACACTGTGGATGGAAATTGTGAATTGGAGGCTGT... | benign | 7,298 |
Clinical significance of chromosome 1, position 42738274, gene CLDN19 (claudin 19): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Renal_hypomagnesemia_5_with_ocular_involvement'] | CAGGGTGACCCGGCCTGGGGTAGGCGTGAAGGCTAGAGGCTGGGCCTCCAGCTCCTGCTCTGAGCAACCTTGGGCTCATTTCCTGATCTGGCCAGTGGAGGGGGCATGGGAGGGCCTGAGAGGTCTGCACGGGAGGAGTGGGGCAATCCCTGCCATGTTTTTTCCCAGTCACATTCTGGCCCACAGAACTCCCAGCCAAGACTGCTCCCGCTGCCCTCTGGAGAAGGCCAGACCCTTCCACCTGGCACTCTGGGCTCTCCACACCCAGACCCTGCTGGCCAGGCCAGCCCTGCTCCTGGTTCTCACTGCCTTGGTGCCTT... | CAGGGTGACCCGGCCTGGGGTAGGCGTGAAGGCTAGAGGCTGGGCCTCCAGCTCCTGCTCTGAGCAACCTTGGGCTCATTTCCTGATCTGGCCAGTGGAGGGGGCATGGGAGGGCCTGAGAGGTCTGCACGGGAGGAGTGGGGCAATCCCTGCCATGTTTTTTCCCAGTCACATTCTGGCCCACAGAACTCCCAGCCAAGACTGCTCCCGCTGCCCTCTGGAGAAGGCCAGACCCTTCCACCTGGCACTCTGGGCTCTCCACACCCAGACCCTGCTGGCCAGGCCAGCCCTGCTCCTGGTTCTCACTGCCTTGGTGCCTT... | pathogenic | 7,340 |
A genetic variant at chromosome 1, position 42746753, affecting gene P3H1 (prolyl 3-hydroxylase 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Osteogenesis_imperfecta_type_8'] | TTTGAGATGGAGTGTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAATGATTATCTCGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGGCTGGTCTCGACCTCCTGACCTTGGGTGAGCCACCCACCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAAAGACCAGCCTTGTTCTTTCTTTGAGACATGGTCTTGCTCTGTCA... | TTTGAGATGGAGTGTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAATGATTATCTCGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGGCTGGTCTCGACCTCCTGACCTTGGGTGAGCCACCCACCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAAAGACCAGCCTTGTTCTTTCTTTGAGACATGGTCTTGCTCTGTCA... | pathogenic | 7,351 |
Regarding the variant found on chromosome 1 at position 42746753 in gene P3H1 (prolyl 3-hydroxylase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Osteogenesis_imperfecta_type_8'] | TTTGAGATGGAGTGTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAATGATTATCTCGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGGCTGGTCTCGACCTCCTGACCTTGGGTGAGCCACCCACCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAAAGACCAGCCTTGTTCTTTCTTTGAGACATGGTCTTGCTCTGTCA... | TTTGAGATGGAGTGTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAATGATTATCTCGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGGCTGGTCTCGACCTCCTGACCTTGGGTGAGCCACCCACCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAAAGACCAGCCTTGTTCTTTCTTTGAGACATGGTCTTGCTCTGTCA... | pathogenic | 7,352 |
Evaluate if the mutation on chromosome 1 at position 42746776 in P3H1 (prolyl 3-hydroxylase 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Osteogenesis_imperfecta_type_8', 'Osteogenesis_imperfecta_type_III'] | TTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAATGATTATCTCGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGGCTGGTCTCGACCTCCTGACCTTGGGTGAGCCACCCACCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAAAGACCAGCCTTGTTCTTTCTTTGAGACATGGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGGAGC... | TTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAATGATTATCTCGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGGCTGGTCTCGACCTCCTGACCTTGGGTGAGCCACCCACCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAAAGACCAGCCTTGTTCTTTCTTTGAGACATGGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGGAGC... | pathogenic | 7,354 |
Is chromosome 1, position 42746845, gene P3H1 (prolyl 3-hydroxylase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Osteogenesis_imperfecta_type_8'] | TATCTCGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGGCTGGTCTCGACCTCCTGACCTTGGGTGAGCCACCCACCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAAAGACCAGCCTTGTTCTTTCTTTGAGACATGGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGGAGCAGGCTTGACGTCCTGGGCTCATGATCCTCCTACCTCAGCCTCCTTAGTATTGGGACCACAGGTGTGCAT... | TATCTCGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGGCTGGTCTCGACCTCCTGACCTTGGGTGAGCCACCCACCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAAAGACCAGCCTTGTTCTTTCTTTGAGACATGGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGGAGCAGGCTTGACGTCCTGGGCTCATGATCCTCCTACCTCAGCCTCCTTAGTATTGGGACCACAGGTGTGCAT... | pathogenic | 7,356 |
Assess the variant on chromosome 1, position 42747346, impacting P3H1 (prolyl 3-hydroxylase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_III'] | CCAATCCATCAGCAATGCCTGTTGGCTCTACTTTAAAAATAGGCCCCCAGACACCCCTGACAATCCACCACTTTCCTTTTTATTTGTTTTTAGAGTTGGGATCTTGCTTTCTTGTGAAGGCTGGAGTGCAGTCGGGCGATCATAGCTCACTGCAGCCTCGAACTTCCAGGCTCAAGCGATCTTCCTGCCTCAGCGTCCAGCTGGGACTACAGGCACGTGACACGTCTCCTGGCTAATGTCACCATACTCTTTCTTGACCAATCTACACCGCCACATTGGCTTCCTTGTTTTTCCTCCACCTTGGACCCTGACTTGTTTTA... | CCAATCCATCAGCAATGCCTGTTGGCTCTACTTTAAAAATAGGCCCCCAGACACCCCTGACAATCCACCACTTTCCTTTTTATTTGTTTTTAGAGTTGGGATCTTGCTTTCTTGTGAAGGCTGGAGTGCAGTCGGGCGATCATAGCTCACTGCAGCCTCGAACTTCCAGGCTCAAGCGATCTTCCTGCCTCAGCGTCCAGCTGGGACTACAGGCACGTGACACGTCTCCTGGCTAATGTCACCATACTCTTTCTTGACCAATCTACACCGCCACATTGGCTTCCTTGTTTTTCCTCCACCTTGGACCCTGACTTGTTTTA... | pathogenic | 7,367 |
The mutation impacting P3H1 (prolyl 3-hydroxylase 1) on chromosome 1 at position 42747780: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Osteogenesis_imperfecta_type_8'] | GTTCACTGCCACGTTCCCAGCACCAGGCACTTAGCTGGTGCTCAGTAAATACATATTGATTGATGGAAGAAGTGAACACTCATGTGCAGGTTCCTACACTCAACGCCCTGTGGCATCTCAAGCACAGTAAAAGCTCTGGACCTAGTACCAGGGATGTAGCCAGAGGAGCTGAATCTCCATTTCCAGTGTTTCCTAGAGTGTGTCTTCCTGCACAGGGAGGCCGAGATACAGGACACTGAGGCCAGACGGCAGAGCAGGAAGCATGTGGCTGACATAGGGGTGACGTGCCAGAGCACTGCTGACCGCCGCTCCCTGCCAGA... | GTTCACTGCCACGTTCCCAGCACCAGGCACTTAGCTGGTGCTCAGTAAATACATATTGATTGATGGAAGAAGTGAACACTCATGTGCAGGTTCCTACACTCAACGCCCTGTGGCATCTCAAGCACAGTAAAAGCTCTGGACCTAGTACCAGGGATGTAGCCAGAGGAGCTGAATCTCCATTTCCAGTGTTTCCTAGAGTGTGTCTTCCTGCACAGGGAGGCCGAGATACAGGACACTGAGGCCAGACGGCAGAGCAGGAAGCATGTGGCTGACATAGGGGTGACGTGCCAGAGCACTGCTGACCGCCGCTCCCTGCCAGA... | pathogenic | 7,372 |
Mutation found at chromosome 1 position 42750238, gene P3H1 (prolyl 3-hydroxylase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_8'] | CCGCACTCACCTGTAGTCGCGGAAGGTGTAGGCTGGGGGCTCTTTGACACACACGAGGGTCTCGGCATTCAGGATGCAGTTGTCCACGTGGACTGGATGACTATCATCCTTCCTCTCTGCCTGGACCTCTGGGGCCAATGTCACACATGTTAGCAAGGGAGCACCTCGGGAGACGGCATAGCTCTCTTCTTGGCAGGGGAGGTGCTTCCCAAAATGTGTTTGAGTCTACGGAATGCCCAATGAACTAGGGGGGTGTCTTTGGCTAAGCCACAAGCCTAGGGGTCAGGACAAGTCTGCAGGCTTCCTAGGACAGTTCTTGG... | CCGCACTCACCTGTAGTCGCGGAAGGTGTAGGCTGGGGGCTCTTTGACACACACGAGGGTCTCGGCATTCAGGATGCAGTTGTCCACGTGGACTGGATGACTATCATCCTTCCTCTCTGCCTGGACCTCTGGGGCCAATGTCACACATGTTAGCAAGGGAGCACCTCGGGAGACGGCATAGCTCTCTTCTTGGCAGGGGAGGTGCTTCCCAAAATGTGTTTGAGTCTACGGAATGCCCAATGAACTAGGGGGGTGTCTTTGGCTAAGCCACAAGCCTAGGGGTCAGGACAAGTCTGCAGGCTTCCTAGGACAGTTCTTGG... | pathogenic | 7,383 |
Classify the chromosome 1 variant at position 42752620 affecting gene P3H1 (prolyl 3-hydroxylase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Osteogenesis_imperfecta_type_8'] | GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGCCGGGGGGGGTGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTAC... | GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGCCGGGGGGGGTGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTAC... | pathogenic | 7,389 |
Classify the chromosome 1 variant at position 42758864 affecting gene P3H1 (prolyl 3-hydroxylase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Osteogenesis_imperfecta_type_8'] | AAGCCACTGCACAAGTTACTTCATCTCTCAGATGCTAACAGTCCTCATCCCTAAAGTGGGAAGAAGAGTGCCAACCTTGCAGGGTGGCTGTGATGATTAAATGAGATGATGGATACAGCCCACCCCGCACAGAGCTTCGCCTGGACAGCGGCTCAACAAATGTTAGTTGCCTTCTTTCCAAAAGGGGACTTCTAGTTAAAAATGCTAGATTGGCCACGTGGGTTTATTTCCCCTCACTCCCCTCAGACTCCCCTTAATGGCCATAAGGAAGGCAGGGAAAAGGTATTAACCAAACAAGACAAAAGAGACCGGAAGTGCCA... | AAGCCACTGCACAAGTTACTTCATCTCTCAGATGCTAACAGTCCTCATCCCTAAAGTGGGAAGAAGAGTGCCAACCTTGCAGGGTGGCTGTGATGATTAAATGAGATGATGGATACAGCCCACCCCGCACAGAGCTTCGCCTGGACAGCGGCTCAACAAATGTTAGTTGCCTTCTTTCCAAAAGGGGACTTCTAGTTAAAAATGCTAGATTGGCCACGTGGGTTTATTTCCCCTCACTCCCCTCAGACTCCCCTTAATGGCCATAAGGAAGGCAGGGAAAAGGTATTAACCAAACAAGACAAAAGAGACCGGAAGTGCCA... | pathogenic | 7,407 |
Determine if the mutation at chromosome 1, position 42758875 in gene P3H1 (prolyl 3-hydroxylase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Osteogenesis_imperfecta_type_8'] | CAAGTTACTTCATCTCTCAGATGCTAACAGTCCTCATCCCTAAAGTGGGAAGAAGAGTGCCAACCTTGCAGGGTGGCTGTGATGATTAAATGAGATGATGGATACAGCCCACCCCGCACAGAGCTTCGCCTGGACAGCGGCTCAACAAATGTTAGTTGCCTTCTTTCCAAAAGGGGACTTCTAGTTAAAAATGCTAGATTGGCCACGTGGGTTTATTTCCCCTCACTCCCCTCAGACTCCCCTTAATGGCCATAAGGAAGGCAGGGAAAAGGTATTAACCAAACAAGACAAAAGAGACCGGAAGTGCCATCTTAAAGCCA... | CAAGTTACTTCATCTCTCAGATGCTAACAGTCCTCATCCCTAAAGTGGGAAGAAGAGTGCCAACCTTGCAGGGTGGCTGTGATGATTAAATGAGATGATGGATACAGCCCACCCCGCACAGAGCTTCGCCTGGACAGCGGCTCAACAAATGTTAGTTGCCTTCTTTCCAAAAGGGGACTTCTAGTTAAAAATGCTAGATTGGCCACGTGGGTTTATTTCCCCTCACTCCCCTCAGACTCCCCTTAATGGCCATAAGGAAGGCAGGGAAAAGGTATTAACCAAACAAGACAAAAGAGACCGGAAGTGCCATCTTAAAGCCA... | pathogenic | 7,408 |
Mutation found at chromosome 1 position 42762368, gene P3H1 (prolyl 3-hydroxylase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Osteogenesis_imperfecta_type_8'] | CAAATAAACACAACTTACTTTTTGTTTTGTTTTGTTTTGAGACAGAGTTTTTTTTTGAGACAGACAGCCCAGGCTGGAGGGCAGTGGCATGATCTCAGCTCACTGTAACCTCCACCTCCTGGGTTCAAGTGATTCTAGCGCCTCAGCCTCCTGAGAAGCTGGGATTACAGACATACACCACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGGCCTCAAGTGATCCACTCACCTCGGCCTCCCAAAATTCTGGGATTACAGGCATGAGCCACCACG... | CAAATAAACACAACTTACTTTTTGTTTTGTTTTGTTTTGAGACAGAGTTTTTTTTTGAGACAGACAGCCCAGGCTGGAGGGCAGTGGCATGATCTCAGCTCACTGTAACCTCCACCTCCTGGGTTCAAGTGATTCTAGCGCCTCAGCCTCCTGAGAAGCTGGGATTACAGACATACACCACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGGCCTCAAGTGATCCACTCACCTCGGCCTCCCAAAATTCTGGGATTACAGGCATGAGCCACCACG... | pathogenic | 7,418 |
A genetic variant at chromosome 1, position 42766739, affecting gene P3H1—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Osteogenesis_imperfecta_type_8'] | TGCTAAGAAAACTTATTTTCTTATCATTGGTACTAGTAAAGGCACACTAAAGGAGTCAGCCCTGGTTAGGTGACCCAAGGTAAATAACTCCCCATCTCTGTACCTCAGTTTCTTTAACTGTAAAATTAGAAATTTTTTCAGGTCTGTCCCTTTCATGGAATTACTCTAGCTCTTGTGTCTTTCAGCGCTGCTCCTGCCTTTCTCTGTTCTCCCTCATGTCCTCACTCCTCTCTCCACCCCCAGCCTTCTTTACTCTCTAAGCACTGAGGTACTTAACCTCCTCTCTTGTGGACAAATGTCTGCCTCCTAATCAAGTGCCA... | TGCTAAGAAAACTTATTTTCTTATCATTGGTACTAGTAAAGGCACACTAAAGGAGTCAGCCCTGGTTAGGTGACCCAAGGTAAATAACTCCCCATCTCTGTACCTCAGTTTCTTTAACTGTAAAATTAGAAATTTTTTCAGGTCTGTCCCTTTCATGGAATTACTCTAGCTCTTGTGTCTTTCAGCGCTGCTCCTGCCTTTCTCTGTTCTCCCTCATGTCCTCACTCCTCTCTCCACCCCCAGCCTTCTTTACTCTCTAAGCACTGAGGTACTTAACCTCCTCTCTTGTGGACAAATGTCTGCCTCCTAATCAAGTGCCA... | pathogenic | 7,425 |
The genetic variant at chromosome 1, position 42766851, affecting gene P3H1 (prolyl 3-hydroxylase 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Osteogenesis_imperfecta_type_8'] | TTTAACTGTAAAATTAGAAATTTTTTCAGGTCTGTCCCTTTCATGGAATTACTCTAGCTCTTGTGTCTTTCAGCGCTGCTCCTGCCTTTCTCTGTTCTCCCTCATGTCCTCACTCCTCTCTCCACCCCCAGCCTTCTTTACTCTCTAAGCACTGAGGTACTTAACCTCCTCTCTTGTGGACAAATGTCTGCCTCCTAATCAAGTGCCACCACTTTCTCCTTCTTCCAAGGCTCATTCACCATGGCTTCCAGAATAAGCGTTTTAAAACCCAAATCTGAGGATGGCTCCCTGCAGTCCGCAGAATTCTCTTCCAAATCTGG... | TTTAACTGTAAAATTAGAAATTTTTTCAGGTCTGTCCCTTTCATGGAATTACTCTAGCTCTTGTGTCTTTCAGCGCTGCTCCTGCCTTTCTCTGTTCTCCCTCATGTCCTCACTCCTCTCTCCACCCCCAGCCTTCTTTACTCTCTAAGCACTGAGGTACTTAACCTCCTCTCTTGTGGACAAATGTCTGCCTCCTAATCAAGTGCCACCACTTTCTCCTTCTTCCAAGGCTCATTCACCATGGCTTCCAGAATAAGCGTTTTAAAACCCAAATCTGAGGATGGCTCCCTGCAGTCCGCAGAATTCTCTTCCAAATCTGG... | pathogenic | 7,426 |
Determine whether the variant at chromosome 1, position 42927211, in gene SLC2A1 (solute carrier family 2 member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Encephalopathy_due_to_GLUT1_deficiency', 'Hereditary_cryohydrocytosis_with_reduced_stomatin', 'Inborn_genetic_diseases'] | TCGCAACCTGCTCTTCTTTGTTGAGATGCAGATGGATGTCCTCATAGATTCTTTATACCTAATGGTAATACATATAGGTATTTCCATTTGCTAAGTACCAGTTTTCCTTTCTCACACCCTTCTTACAACCCCTCTTCATGTCAGGGAGAAAAAAGCCTGCCTGTAGTTACAAAAGCAAACTTCTCCCAGATTTTGTCAGCTGAGCCTCTAGAGACAAATATCTTTGGTGTTTTATTTCCTCCAGTATTTTCTGAGTGCCTGCTGTGCATCAAGCACTGTACTGAATAGTGCTGAGGACCCACAGGAACCAAATCGGCATC... | TCGCAACCTGCTCTTCTTTGTTGAGATGCAGATGGATGTCCTCATAGATTCTTTATACCTAATGGTAATACATATAGGTATTTCCATTTGCTAAGTACCAGTTTTCCTTTCTCACACCCTTCTTACAACCCCTCTTCATGTCAGGGAGAAAAAAGCCTGCCTGTAGTTACAAAAGCAAACTTCTCCCAGATTTTGTCAGCTGAGCCTCTAGAGACAAATATCTTTGGTGTTTTATTTCCTCCAGTATTTTCTGAGTGCCTGCTGTGCATCAAGCACTGTACTGAATAGTGCTGAGGACCCACAGGAACCAAATCGGCATC... | pathogenic | 7,447 |
Is the genetic mutation found on chromosome 1 at position 42927574, within the gene SLC2A1 (solute carrier family 2 member 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGAAGGAGCAGATGAAGTGCTCTGGAAATTCAGGGGTGAAGGAGGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATT... | TGAAGGAGCAGATGAAGTGCTCTGGAAATTCAGGGGTGAAGGAGGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATT... | benign | 7,452 |
A mutation at chromosome position 42927592 on chromosome 1 in gene SLC2A1 (solute carrier family 2 member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GCTCTGGAAATTCAGGGGTGAAGGAGGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATA... | GCTCTGGAAATTCAGGGGTGAAGGAGGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATA... | benign | 7,453 |
Regarding the variant found on chromosome 1 at position 42929242 in gene SLC2A1 (solute carrier family 2 member 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Encephalopathy_due_to_GLUT1_deficiency', 'GLUT1_deficiency_syndrome_1,_autosomal_recessive'] | AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGC... | AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGC... | pathogenic | 7,488 |
Variant on chromosome 1, at position 42929605, affecting SLC2A1 (solute carrier family 2 member 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Childhood_onset_GLUT1_deficiency_syndrome_2', 'Encephalopathy_due_to_GLUT1_deficiency', 'GLUT1_deficiency_syndrome_1,_autosomal_recessive'] | TGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAG... | TGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAG... | pathogenic | 7,497 |
Gene mutation in SLC2A1 (solute carrier family 2 member 1) at chromosome 1, position 42929716—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Childhood_onset_GLUT1_deficiency_syndrome_2', 'Encephalopathy_due_to_GLUT1_deficiency'] | GGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATT... | GGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATT... | pathogenic | 7,510 |
For chromosome 1, position 42929719, gene SLC2A1 (solute carrier family 2 member 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Encephalopathy_due_to_GLUT1_deficiency', 'GLUT1_deficiency_syndrome_1,_autosomal_recessive'] | AATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAA... | AATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAA... | pathogenic | 7,511 |
Mutation at chromosome 1, position 42929720, within SLC2A1 (solute carrier family 2 member 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Childhood_onset_GLUT1_deficiency_syndrome_2', 'Encephalopathy_due_to_GLUT1_deficiency', 'GLUT1_deficiency_syndrome_1,_autosomal_recessive', 'Global_developmental_delay', 'Seizure', 'Strabismus'] | ATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAG... | ATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAG... | pathogenic | 7,512 |
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