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 |
|---|---|---|---|---|---|
Regarding the variant at chromosome 2 and position 32224802, affecting gene NLRC4 (NLR family CARD domain containing 4): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ACTATTACAGGATGATTCTTCTTCCTCCATTGATCTCAACTAAATATGAATTAGGGTCATGCATGAAATCTGAACTGCCGTGTCCTGAGTTATGGTTAAGAGGTATGTGCTGCCACCCCATGCATGTCTTCCCCATCCCCATAGGATTTTAAAGTGTTCAGGTACCAAACACAGTTCTGTGTGAGGTTTTATGCCTACTTCCTCAACACCAATTCAGAGGCAACACCTGTGCATCTGTCCCACCAAAGGTGCTTTAATACCTACCTTCACTATTTGAGAAAGGACACTCACAGTTGCCTGTGGGTTATGAAAGAATTGGC... | ACTATTACAGGATGATTCTTCTTCCTCCATTGATCTCAACTAAATATGAATTAGGGTCATGCATGAAATCTGAACTGCCGTGTCCTGAGTTATGGTTAAGAGGTATGTGCTGCCACCCCATGCATGTCTTCCCCATCCCCATAGGATTTTAAAGTGTTCAGGTACCAAACACAGTTCTGTGTGAGGTTTTATGCCTACTTCCTCAACACCAATTCAGAGGCAACACCTGTGCATCTGTCCCACCAAAGGTGCTTTAATACCTACCTTCACTATTTGAGAAAGGACACTCACAGTTGCCTGTGGGTTATGAAAGAATTGGC... | benign | 31,725 |
Evaluate if the mutation on chromosome 2 at position 32224810 in NLRC4 (NLR family CARD domain containing 4) is benign or pathogenic. Disease name(s) if pathogenic? | benign | AGGATGATTCTTCTTCCTCCATTGATCTCAACTAAATATGAATTAGGGTCATGCATGAAATCTGAACTGCCGTGTCCTGAGTTATGGTTAAGAGGTATGTGCTGCCACCCCATGCATGTCTTCCCCATCCCCATAGGATTTTAAAGTGTTCAGGTACCAAACACAGTTCTGTGTGAGGTTTTATGCCTACTTCCTCAACACCAATTCAGAGGCAACACCTGTGCATCTGTCCCACCAAAGGTGCTTTAATACCTACCTTCACTATTTGAGAAAGGACACTCACAGTTGCCTGTGGGTTATGAAAGAATTGGCCCTACGTC... | AGGATGATTCTTCTTCCTCCATTGATCTCAACTAAATATGAATTAGGGTCATGCATGAAATCTGAACTGCCGTGTCCTGAGTTATGGTTAAGAGGTATGTGCTGCCACCCCATGCATGTCTTCCCCATCCCCATAGGATTTTAAAGTGTTCAGGTACCAAACACAGTTCTGTGTGAGGTTTTATGCCTACTTCCTCAACACCAATTCAGAGGCAACACCTGTGCATCTGTCCCACCAAAGGTGCTTTAATACCTACCTTCACTATTTGAGAAAGGACACTCACAGTTGCCTGTGGGTTATGAAAGAATTGGCCCTACGTC... | benign | 31,727 |
Mutation at chromosome 2, position 32236424, within NLRC4 (NLR family CARD domain containing 4): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TGTCTAAAAAAAAAACAAAAAACAAAGAACAAAAACAGTTTAATAAATTGTACGTTACGTAAACTAAACACATTTTAGACAATCTGTAAGAGAAATGAAGGCAATCGAGGCTGTTTTCACAAGTCCTTGGCTTTAGTATGATAGCTTCCAAGTTGAACCTGATGAGCCTGACCTCCTTGTATTAATGTTTCCATACGCTGGATTGGAATAACTTGTGCAACCAGTGGGATATGTCAGAAGTGACCAGAAATGAGTGGGCTGCCATGTTGTGAGGACACTCACAGCCTGTGAAGAGGTCTAATGATGAGGAAGTGAGGCCT... | TGTCTAAAAAAAAAACAAAAAACAAAGAACAAAAACAGTTTAATAAATTGTACGTTACGTAAACTAAACACATTTTAGACAATCTGTAAGAGAAATGAAGGCAATCGAGGCTGTTTTCACAAGTCCTTGGCTTTAGTATGATAGCTTCCAAGTTGAACCTGATGAGCCTGACCTCCTTGTATTAATGTTTCCATACGCTGGATTGGAATAACTTGTGCAACCAGTGGGATATGTCAGAAGTGACCAGAAATGAGTGGGCTGCCATGTTGTGAGGACACTCACAGCCTGTGAAGAGGTCTAATGATGAGGAAGTGAGGCCT... | benign | 31,736 |
Regarding the variant found on chromosome 2 at position 32241111 in gene NLRC4 (NLR family CARD domain containing 4): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CTGAGGTCAGGAGTTCAAGACCAGCCTGTCCAACATGGCGGAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGTGCACACCTGTAATCTCAGCTACTTCGGAGGTTGAGGCATTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCTCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCCATCTCAAAGAAAAGAAAAGAAAAGAAATAAAATATATGATTCTAATAATATCAGTCTTGCAGAGCTTTCGGGAAGGTTGCAGATAATGTACGTTAACATATTTAAT... | CTGAGGTCAGGAGTTCAAGACCAGCCTGTCCAACATGGCGGAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGTGCACACCTGTAATCTCAGCTACTTCGGAGGTTGAGGCATTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAACATCTCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCCATCTCAAAGAAAAGAAAAGAAAAGAAATAAAATATATGATTCTAATAATATCAGTCTTGCAGAGCTTTCGGGAAGGTTGCAGATAATGTACGTTAACATATTTAAT... | benign | 31,738 |
Clinical classification of chromosome 2, position 32256724, gene NLRC4 (NLR family CARD domain containing 4): benign or pathogenic? Disease(s) if pathogenic? | benign | TGGCGCGATCTCAGCTCACCACAACCTCTGCCTGCCAGGTTCAAGCAATTCCCCTGCCTCGGCCTCCCAAGCAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTGTATTTTTAGTAGAGATGAGATTTCTCTATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGTCTCAGCTTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGCACCTGGCCGCTCCTGGCTTTCAAACCTGTGTTGACTGATCAGAGAGGGAATGCACTCCTCTCAAAGACCCCAGAACCTCTCTGGCC... | TGGCGCGATCTCAGCTCACCACAACCTCTGCCTGCCAGGTTCAAGCAATTCCCCTGCCTCGGCCTCCCAAGCAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTGTATTTTTAGTAGAGATGAGATTTCTCTATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGTCTCAGCTTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGCACCTGGCCGCTCCTGGCTTTCAAACCTGTGTTGACTGATCAGAGAGGGAATGCACTCCTCTCAAAGACCCCAGAACCTCTCTGGCC... | benign | 31,762 |
Does the variant impacting EIF2AK2 (eukaryotic translation initiation factor 2 alpha kinase 2) on chromosome 2, position 37114864, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TTAACTACCTTCACAATGTTGTATAACCATCACCACTATCTATTTCCAGAACTTTTCATCACCCCAAACAGAAGCTATACCCATTAAACAAGAAGTTCCCATTCCTCCCTTCTTCCAGATAACCTCTGTTCCACTTTCTGTCTCTATGAATTTTCCTTAAAATAGCATTTAAATAATTAACTGCTTAACACGTAGTGATGAAGCAACTGCATATTCACACGGGGAAAATCAAGTTAGATTCCTTTCTCATACATAAACAAAAGTTAATTCAAATTGCAGTTAATTTTTATGTTAGTAAAACCAAAAAATATTTTCATAAT... | TTAACTACCTTCACAATGTTGTATAACCATCACCACTATCTATTTCCAGAACTTTTCATCACCCCAAACAGAAGCTATACCCATTAAACAAGAAGTTCCCATTCCTCCCTTCTTCCAGATAACCTCTGTTCCACTTTCTGTCTCTATGAATTTTCCTTAAAATAGCATTTAAATAATTAACTGCTTAACACGTAGTGATGAAGCAACTGCATATTCACACGGGGAAAATCAAGTTAGATTCCTTTCTCATACATAAACAAAAGTTAATTCAAATTGCAGTTAATTTTTATGTTAGTAAAACCAAAAAATATTTTCATAAT... | benign | 31,829 |
Is the variant located on chromosome 2 at position 38070511, gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GTTCATGATTATTTTTGCAGCTACACATTTCTCAATCTAAAAAAATAGGCTACAGCAGCCCAAATTCACTGTCTCAGCCTTGGTGGGGCATAATATTTTGGAATGGCAAGTGCCAAAAAATTTAAATGTACTGGGCAAGCCTGCTTTGTGTAGTTGACTCTAATGCCTTTAAAAATACTGGCATGATTTTTTATATTCAAGAAGTACAGCTATGAAATTTTAAAATAAAATTACATGAAGTTTTTTAATATTCCAAACCACAAAACAGATCTGCTATGTTGTAGACTTTTTTAATAGCCTATTTGAGATTTAACTCTGCT... | GTTCATGATTATTTTTGCAGCTACACATTTCTCAATCTAAAAAAATAGGCTACAGCAGCCCAAATTCACTGTCTCAGCCTTGGTGGGGCATAATATTTTGGAATGGCAAGTGCCAAAAAATTTAAATGTACTGGGCAAGCCTGCTTTGTGTAGTTGACTCTAATGCCTTTAAAAATACTGGCATGATTTTTTATATTCAAGAAGTACAGCTATGAAATTTTAAAATAAAATTACATGAAGTTTTTTAATATTCCAAACCACAAAACAGATCTGCTATGTTGTAGACTTTTTTAATAGCCTATTTGAGATTTAACTCTGCT... | benign | 31,873 |
Variant on chromosome 2, at position 38070812, affecting CYP1B1 (cytochrome P450 family 1 subfamily B member 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Anterior_segment_dysgenesis_6', 'Glaucoma_3,_primary_infantile,_B', 'Glaucoma_3A'] | TTTGAGATTTAACTCTGCTACGCCAAACATCTTTCTTCTAAATGTCCATGCTTTGAATTTTGTGCTCCAAATTAATTAATTCAGAATGAGTGGGAAAATGTTTAACCATCTTTCCTTCTTTTCAGTGTTTCTCTCTTTTCTCTTACCATCCCCCCACCCCACACACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCA... | TTTGAGATTTAACTCTGCTACGCCAAACATCTTTCTTCTAAATGTCCATGCTTTGAATTTTGTGCTCCAAATTAATTAATTCAGAATGAGTGGGAAAATGTTTAACCATCTTTCCTTCTTTTCAGTGTTTCTCTCTTTTCTCTTACCATCCCCCCACCCCACACACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCA... | pathogenic | 31,874 |
Classify the chromosome 2 variant at position 38070963 affecting gene CYP1B1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Anterior_segment_dysgenesis_6', 'Congenital_glaucoma', 'Primary_congenital_glaucoma'] | CCCCACCCCACACACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTT... | CCCCACCCCACACACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTT... | pathogenic | 31,876 |
Benign or pathogenic: chromosome 2, position 38070975, gene CYP1B1 variant? Disease(s) if pathogenic? | pathogenic; ['Anterior_segment_dysgenesis_6', 'Congenital_glaucoma'] | CACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGG... | CACACATACACACAACTATCAAAAACTCCCTTTTTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGG... | pathogenic | 31,877 |
Variant in CYP1B1, chromosome 2, position 38071008—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Anterior_segment_dysgenesis_6', 'Congenital_glaucoma'] | TTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAA... | TTTAAAATTTTGGTACAAAGATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAA... | pathogenic | 31,880 |
Clinically, how would you classify the variant at chromosome 2, position 38071028, gene CYP1B1: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Glaucoma_3A'] | ATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTA... | ATTCCAAAAAGCTTAATAAAATGTAATAAGCACTTAGCACTTAGGACACTGTAGAACTTTCTTTGGAAGTTTAATTGCAATGAACTTTAAAACTTGAAACTTCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTA... | pathogenic | 31,885 |
Does the chromosome 2 mutation at position 38071129 within gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Anterior_segment_dysgenesis_6', 'Congenital_glaucoma'] | TCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCT... | TCAATTCACTTTTCTAAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCT... | pathogenic | 31,889 |
Variant chromosome 2, position 38071144, gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1): benign or pathogenic? Disease(s)? | pathogenic; ['Anterior_segment_dysgenesis', 'Anterior_segment_dysgenesis_6', 'CYP1B1-related_disorder', 'Congenital_glaucoma', 'Glaucoma_3A', 'Irido-corneo-trabecular_dysgenesis'] | AAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGA... | AAATGTGAATGCATACATTTCATTTGAGCTTTATGCTTTCCCAGCTACCAAAGTAATTGCCATCTTAAAAAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGA... | pathogenic | 31,890 |
A mutation at chromosome position 38071213 on chromosome 2 in gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Anterior_segment_dysgenesis_6', 'Congenital_glaucoma', 'Glaucoma_3A'] | AAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAATCAGAATGGCTTTAAAATTTAGTTAAAA... | AAACACAACTGACCTCATCTCCACTGTCTTTTCCAAACAGCTTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAATCAGAATGGCTTTAAAATTTAGTTAAAA... | pathogenic | 31,896 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 38071254, gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Anterior_segment_dysgenesis_6', 'Glaucoma_3,_primary_infantile,_B', 'Glaucoma_3A'] | TTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAATCAGAATGGCTTTAAAATTTAGTTAAAATTTAAGCATGCCATGAATTTGGAATTTTAATATATTAATTA... | TTCCAAGACTATCTTCTGATTCTGACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAATCAGAATGGCTTTAAAATTTAGTTAAAATTTAAGCATGCCATGAATTTGGAATTTTAATATATTAATTA... | pathogenic | 31,897 |
Variant chromosome 2, position 38071277, gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1): benign or pathogenic? Disease(s)? | pathogenic; ['Anterior_segment_dysgenesis_6', 'CYP1B1-related_disorder', 'Congenital_glaucoma', 'Glaucoma_3A', 'Primary_congenital_glaucoma'] | GACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAATCAGAATGGCTTTAAAATTTAGTTAAAATTTAAGCATGCCATGAATTTGGAATTTTAATATATTAATTAGGTTATTTTCAAAACAAGATTCT... | GACTTTCCAAAAAGCAGGCATTAATGTTAACTTTCAAAAAATCATCTAGAAGAGAAACTTGGTCAGTTGTAATGGGAGTTCTGTCCCCAACTCTTGTCACCTCGTAAAAAGAACATCCAGGTAATTCATGGCATTTTCCATTATTCATTGGGCAGACACAGCTTAGATTTCTCTGCCTTCCACAGGAGAATGTTCAGATTTCCACTAACTTCAACTGGAACTCAATAATCAGAATGGCTTTAAAATTTAGTTAAAATTTAAGCATGCCATGAATTTGGAATTTTAATATATTAATTAGGTTATTTTCAAAACAAGATTCT... | pathogenic | 31,899 |
Does the variant on chromosome 2 at location 38074400 affecting gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Anterior_segment_dysgenesis_6', 'Congenital_glaucoma', 'Primary_congenital_glaucoma'] | GTCTCTAAGGTAAGTAAATACATAAAATTAAAATAAAAATTTTAAAAATGCAATCAAGGCCAATGACCAACATTAAAGTTCAATAAATGATTATATATAACTATACATTATCATAGCAAAATACTATATAGCCATCAAAAATTACCAAAATAAATATTAAAAGATTAGAAATGTCCACTACCTTGAGTCAAAGTGTTAGAAGTCAAAAAACAAGTAACTGATTGTTTGCAACTCCGAAAAAAAATGTATACACGTATGTGATGAAGTGGAGTTATTTTTAGAATCGCTTCTTCAACATTATATTGCAGGAGTCTGCCAAC... | GTCTCTAAGGTAAGTAAATACATAAAATTAAAATAAAAATTTTAAAAATGCAATCAAGGCCAATGACCAACATTAAAGTTCAATAAATGATTATATATAACTATACATTATCATAGCAAAATACTATATAGCCATCAAAAATTACCAAAATAAATATTAAAAGATTAGAAATGTCCACTACCTTGAGTCAAAGTGTTAGAAGTCAAAAAACAAGTAACTGATTGTTTGCAACTCCGAAAAAAAATGTATACACGTATGTGATGAAGTGGAGTTATTTTTAGAATCGCTTCTTCAACATTATATTGCAGGAGTCTGCCAAC... | pathogenic | 31,903 |
Chromosome 2, position 38074417, gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Anterior_segment_dysgenesis_6', 'Congenital_glaucoma', 'Primary_congenital_glaucoma'] | ATACATAAAATTAAAATAAAAATTTTAAAAATGCAATCAAGGCCAATGACCAACATTAAAGTTCAATAAATGATTATATATAACTATACATTATCATAGCAAAATACTATATAGCCATCAAAAATTACCAAAATAAATATTAAAAGATTAGAAATGTCCACTACCTTGAGTCAAAGTGTTAGAAGTCAAAAAACAAGTAACTGATTGTTTGCAACTCCGAAAAAAAATGTATACACGTATGTGATGAAGTGGAGTTATTTTTAGAATCGCTTCTTCAACATTATATTGCAGGAGTCTGCCAACTTTTTTCATAGAAACAT... | ATACATAAAATTAAAATAAAAATTTTAAAAATGCAATCAAGGCCAATGACCAACATTAAAGTTCAATAAATGATTATATATAACTATACATTATCATAGCAAAATACTATATAGCCATCAAAAATTACCAAAATAAATATTAAAAGATTAGAAATGTCCACTACCTTGAGTCAAAGTGTTAGAAGTCAAAAAACAAGTAACTGATTGTTTGCAACTCCGAAAAAAAATGTATACACGTATGTGATGAAGTGGAGTTATTTTTAGAATCGCTTCTTCAACATTATATTGCAGGAGTCTGCCAACTTTTTTCATAGAAACAT... | pathogenic | 31,905 |
Variant at chromosome 2, position 38074520, gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Anterior_segment_dysgenesis_6', 'CYP1B1-related_disorder', 'Congenital_glaucoma', 'Congenital_ocular_coloboma', 'Glaucoma_3A'] | ATACTATATAGCCATCAAAAATTACCAAAATAAATATTAAAAGATTAGAAATGTCCACTACCTTGAGTCAAAGTGTTAGAAGTCAAAAAACAAGTAACTGATTGTTTGCAACTCCGAAAAAAAATGTATACACGTATGTGATGAAGTGGAGTTATTTTTAGAATCGCTTCTTCAACATTATATTGCAGGAGTCTGCCAACTTTTTTCATAGAAACATGTATGGTGGGGAGAGCCAGAGAGTATCTATTTTAGACTTTGTGGACCAAACCCTCTTTGTTGCACTACTCTGCTCTGCCTTGTGTTGTAGAGTGAACGCAGCC... | ATACTATATAGCCATCAAAAATTACCAAAATAAATATTAAAAGATTAGAAATGTCCACTACCTTGAGTCAAAGTGTTAGAAGTCAAAAAACAAGTAACTGATTGTTTGCAACTCCGAAAAAAAATGTATACACGTATGTGATGAAGTGGAGTTATTTTTAGAATCGCTTCTTCAACATTATATTGCAGGAGTCTGCCAACTTTTTTCATAGAAACATGTATGGTGGGGAGAGCCAGAGAGTATCTATTTTAGACTTTGTGGACCAAACCCTCTTTGTTGCACTACTCTGCTCTGCCTTGTGTTGTAGAGTGAACGCAGCC... | pathogenic | 31,907 |
Variant in CYP1B1 (cytochrome P450 family 1 subfamily B member 1), chromosome 2, position 38074520—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Anterior_segment_dysgenesis_6', 'Congenital_glaucoma'] | ATACTATATAGCCATCAAAAATTACCAAAATAAATATTAAAAGATTAGAAATGTCCACTACCTTGAGTCAAAGTGTTAGAAGTCAAAAAACAAGTAACTGATTGTTTGCAACTCCGAAAAAAAATGTATACACGTATGTGATGAAGTGGAGTTATTTTTAGAATCGCTTCTTCAACATTATATTGCAGGAGTCTGCCAACTTTTTTCATAGAAACATGTATGGTGGGGAGAGCCAGAGAGTATCTATTTTAGACTTTGTGGACCAAACCCTCTTTGTTGCACTACTCTGCTCTGCCTTGTGTTGTAGAGTGAACGCAGCC... | ATACTATATAGCCATCAAAAATTACCAAAATAAATATTAAAAGATTAGAAATGTCCACTACCTTGAGTCAAAGTGTTAGAAGTCAAAAAACAAGTAACTGATTGTTTGCAACTCCGAAAAAAAATGTATACACGTATGTGATGAAGTGGAGTTATTTTTAGAATCGCTTCTTCAACATTATATTGCAGGAGTCTGCCAACTTTTTTCATAGAAACATGTATGGTGGGGAGAGCCAGAGAGTATCTATTTTAGACTTTGTGGACCAAACCCTCTTTGTTGCACTACTCTGCTCTGCCTTGTGTTGTAGAGTGAACGCAGCC... | pathogenic | 31,908 |
A mutation at chromosome position 38074558 on chromosome 2 in gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Anterior_segment_dysgenesis_6', 'Congenital_glaucoma', 'Glaucoma_3,_primary_infantile,_B', 'Glaucoma_3A'] | AAAAGATTAGAAATGTCCACTACCTTGAGTCAAAGTGTTAGAAGTCAAAAAACAAGTAACTGATTGTTTGCAACTCCGAAAAAAAATGTATACACGTATGTGATGAAGTGGAGTTATTTTTAGAATCGCTTCTTCAACATTATATTGCAGGAGTCTGCCAACTTTTTTCATAGAAACATGTATGGTGGGGAGAGCCAGAGAGTATCTATTTTAGACTTTGTGGACCAAACCCTCTTTGTTGCACTACTCTGCTCTGCCTTGTGTTGTAGAGTGAACGCAGCCATCGACAATGTATAAATGAATGGGCATGACTGCGTCAA... | AAAAGATTAGAAATGTCCACTACCTTGAGTCAAAGTGTTAGAAGTCAAAAAACAAGTAACTGATTGTTTGCAACTCCGAAAAAAAATGTATACACGTATGTGATGAAGTGGAGTTATTTTTAGAATCGCTTCTTCAACATTATATTGCAGGAGTCTGCCAACTTTTTTCATAGAAACATGTATGGTGGGGAGAGCCAGAGAGTATCTATTTTAGACTTTGTGGACCAAACCCTCTTTGTTGCACTACTCTGCTCTGCCTTGTGTTGTAGAGTGAACGCAGCCATCGACAATGTATAAATGAATGGGCATGACTGCGTCAA... | pathogenic | 31,910 |
Assess the variant on chromosome 2, position 38074574, impacting CYP1B1 (cytochrome P450 family 1 subfamily B member 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Anterior_segment_dysgenesis_6'] | CCACTACCTTGAGTCAAAGTGTTAGAAGTCAAAAAACAAGTAACTGATTGTTTGCAACTCCGAAAAAAAATGTATACACGTATGTGATGAAGTGGAGTTATTTTTAGAATCGCTTCTTCAACATTATATTGCAGGAGTCTGCCAACTTTTTTCATAGAAACATGTATGGTGGGGAGAGCCAGAGAGTATCTATTTTAGACTTTGTGGACCAAACCCTCTTTGTTGCACTACTCTGCTCTGCCTTGTGTTGTAGAGTGAACGCAGCCATCGACAATGTATAAATGAATGGGCATGACTGCGTCAATAAAACGTATATACAA... | CCACTACCTTGAGTCAAAGTGTTAGAAGTCAAAAAACAAGTAACTGATTGTTTGCAACTCCGAAAAAAAATGTATACACGTATGTGATGAAGTGGAGTTATTTTTAGAATCGCTTCTTCAACATTATATTGCAGGAGTCTGCCAACTTTTTTCATAGAAACATGTATGGTGGGGAGAGCCAGAGAGTATCTATTTTAGACTTTGTGGACCAAACCCTCTTTGTTGCACTACTCTGCTCTGCCTTGTGTTGTAGAGTGAACGCAGCCATCGACAATGTATAAATGAATGGGCATGACTGCGTCAATAAAACGTATATACAA... | pathogenic | 31,911 |
Mutation found at chromosome 2 position 38074853, gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Anterior_segment_dysgenesis_6', 'CYP1B1-related_disorder', 'Congenital_glaucoma', 'Glaucoma_3,_primary_infantile,_B', 'Glaucoma_3A', 'Primary_congenital_glaucoma'] | AAATGAATGGGCATGACTGCGTCAATAAAACGTATATACAAAAACAGATCGTGTAATTTGCCAAGCCCTGTCATACGTCTTTTCACTAAAAAGGAAAAAAAAAGTATCAGCATATTGAATTGAAAGTGACCTCCAAATTGTTTTATTTCTTTTTGCCGCCTAATTGGAGTACTCGGAGAACTATTGTGGTTCTAATGAAAAACAAAGGCCGTTTCAAAAGTTAAAATGCCTATCTGCGGATGCACAAAAACCTATGGAACCTATTCCGGGATTTCCTTTTCCCTGATCTCTGGTTGACTTTTCTTTATTCGATTTCTGCC... | AAATGAATGGGCATGACTGCGTCAATAAAACGTATATACAAAAACAGATCGTGTAATTTGCCAAGCCCTGTCATACGTCTTTTCACTAAAAAGGAAAAAAAAAGTATCAGCATATTGAATTGAAAGTGACCTCCAAATTGTTTTATTTCTTTTTGCCGCCTAATTGGAGTACTCGGAGAACTATTGTGGTTCTAATGAAAAACAAAGGCCGTTTCAAAAGTTAAAATGCCTATCTGCGGATGCACAAAAACCTATGGAACCTATTCCGGGATTTCCTTTTCCCTGATCTCTGGTTGACTTTTCTTTATTCGATTTCTGCC... | pathogenic | 31,920 |
Evaluate the clinical significance of the mutation at chromosome 2, position 38075025 in gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Anterior_segment_dysgenesis_6', 'Congenital_glaucoma'] | TCGGAGAACTATTGTGGTTCTAATGAAAAACAAAGGCCGTTTCAAAAGTTAAAATGCCTATCTGCGGATGCACAAAAACCTATGGAACCTATTCCGGGATTTCCTTTTCCCTGATCTCTGGTTGACTTTTCTTTATTCGATTTCTGCCTCTCCCTCACCCACCATGGGTGTTTCTATGATTTTAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGG... | TCGGAGAACTATTGTGGTTCTAATGAAAAACAAAGGCCGTTTCAAAAGTTAAAATGCCTATCTGCGGATGCACAAAAACCTATGGAACCTATTCCGGGATTTCCTTTTCCCTGATCTCTGGTTGACTTTTCTTTATTCGATTTCTGCCTCTCCCTCACCCACCATGGGTGTTTCTATGATTTTAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGG... | pathogenic | 31,923 |
Is chromosome 2, position 38075083, gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Anterior_segment_dysgenesis_6', 'Primary_congenital_glaucoma'] | TATCTGCGGATGCACAAAAACCTATGGAACCTATTCCGGGATTTCCTTTTCCCTGATCTCTGGTTGACTTTTCTTTATTCGATTTCTGCCTCTCCCTCACCCACCATGGGTGTTTCTATGATTTTAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAAC... | TATCTGCGGATGCACAAAAACCTATGGAACCTATTCCGGGATTTCCTTTTCCCTGATCTCTGGTTGACTTTTCTTTATTCGATTTCTGCCTCTCCCTCACCCACCATGGGTGTTTCTATGATTTTAATACTAAAAAGCCATTTTAAGTATACAGAAACTTTTAATTTGTGAAGGTAGCTGTACAGTATCTAAGGAAATATAGATTGCAGTGGATTTTAATAAGGAAAGAGTCATTCTCTGCCTTCCAAACACCTTTCTGTGGCGCCTGCAGATTCAGCATCTCCAACTGCTCACTTGTGCTCCAAGAAATGACACAAAAC... | pathogenic | 31,926 |
Benign or pathogenic: chromosome 2, position 38075874, gene CYP1B1 (cytochrome P450 family 1 subfamily B member 1) variant? Disease(s) if pathogenic? | benign | GCCTCCATGGGCTTCCTTGGCCTGGAACAAAGCCCTGACGGGCGGCCCGCTTTTAGCGCCAGGGCTGGGCGGCCTCGGATGCACGCCGAGGACTAGCCTAGGAGAGGCTGCTGTGTTTAACATATTTATGACATTACCTTTTCTTTCGGAACTATTCCAGTTCTGATTGTAATGCGCCAGGGAGAGAGATATCAGGGCTCATCTCCAAGCATTTAAAAACTCTTGTTTTTCCGGGGGGTGGAGGGGTCTTTGCAAATGTGTTCTCACTCGCAAGCAGGGGAGGGGACGATAGAGACAAGATAGGAGACCGGAGGGGTCGG... | GCCTCCATGGGCTTCCTTGGCCTGGAACAAAGCCCTGACGGGCGGCCCGCTTTTAGCGCCAGGGCTGGGCGGCCTCGGATGCACGCCGAGGACTAGCCTAGGAGAGGCTGCTGTGTTTAACATATTTATGACATTACCTTTTCTTTCGGAACTATTCCAGTTCTGATTGTAATGCGCCAGGGAGAGAGATATCAGGGCTCATCTCCAAGCATTTAAAAACTCTTGTTTTTCCGGGGGGTGGAGGGGTCTTTGCAAATGTGTTCTCACTCGCAAGCAGGGGAGGGGACGATAGAGACAAGATAGGAGACCGGAGGGGTCGG... | benign | 31,938 |
Variant at chromosome 2, position 38983578, gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | ACATGCAAAAATAATACACTTGTGGGCTATGTAAGGCATTTTTCTTTATTATTTTTCAGTTTATCTTAGTAATGCCAGAAAAATAACAGCCGTTATTTTCACTTTAAATGCAAACCAAATACTGCTGCACACAGAGTACAAAGATTACCTATGAACATGGTTAGGTACAAAGGCCATATTAGATGTATAGACCACACTTTGTTCTTACATCAAAGACCGACCGACAGAGCAATTTTTTGACAATTATTTTAGCAAATAACCGTGCTACTAAACAAAGGCAAATACACATATATACACAAACACGTCTCAACTAAAATTAT... | ACATGCAAAAATAATACACTTGTGGGCTATGTAAGGCATTTTTCTTTATTATTTTTCAGTTTATCTTAGTAATGCCAGAAAAATAACAGCCGTTATTTTCACTTTAAATGCAAACCAAATACTGCTGCACACAGAGTACAAAGATTACCTATGAACATGGTTAGGTACAAAGGCCATATTAGATGTATAGACCACACTTTGTTCTTACATCAAAGACCGACCGACAGAGCAATTTTTTGACAATTATTTTAGCAAATAACCGTGCTACTAAACAAAGGCAAATACACATATATACACAAACACGTCTCAACTAAAATTAT... | benign | 31,962 |
Does the variant impacting SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) on chromosome 2, position 38984217, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TTAAAGGCAAAAGGGAAATTTGCTCACAGTCGACAGAAAATGCACTTTACGGTGTCAAAAATGGAAAATAAGGCATGGAATTTACTAAACAAGTTACAAGTGCTTTTGTTGTTTAGATTTATAATATAGACTTCATGCTTCTTAAGTAGAGCTCAAAATATTTCATTGGCTCATGTATAAGGGATTATGAAATAATCTTAAAAGTTAGTAATGAGATGTTTCAAAGAAGAAAAATATTGAATAAAGTCATCATGTTCCCTTATAAATAACTTTACTGCATAATTCTTTCAGCCAAACCAATATTAACCTTGTGATGTTTA... | TTAAAGGCAAAAGGGAAATTTGCTCACAGTCGACAGAAAATGCACTTTACGGTGTCAAAAATGGAAAATAAGGCATGGAATTTACTAAACAAGTTACAAGTGCTTTTGTTGTTTAGATTTATAATATAGACTTCATGCTTCTTAAGTAGAGCTCAAAATATTTCATTGGCTCATGTATAAGGGATTATGAAATAATCTTAAAAGTTAGTAATGAGATGTTTCAAAGAAGAAAAATATTGAATAAAGTCATCATGTTCCCTTATAAATAACTTTACTGCATAATTCTTTCAGCCAAACCAATATTAACCTTGTGATGTTTA... | benign | 31,964 |
Determine if the mutation at chromosome 2, position 38984487 in gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TTTACTGCATAATTCTTTCAGCCAAACCAATATTAACCTTGTGATGTTTAGTTACTGGTAAAGATTAATGCAATACAACAGGACCTATACTTGCGTAGTCACACAATATATGTTAAAAGAATAAGTAAACCTATTCACAGCAGCAGAATACCAAGAAATAAATGGTTAAACTGTTTCTTTCTAAATCTGAAGGAACAAAAAGGTTTTCTTCAATATGTACAACACTAATAAATTGGGACACTCCTCCTATTTTGCTGAGTCACTTAAAAATCTGAATTTAAGCTGTCATATTAGAAGACAAACAATGAAATACAAGATTA... | TTTACTGCATAATTCTTTCAGCCAAACCAATATTAACCTTGTGATGTTTAGTTACTGGTAAAGATTAATGCAATACAACAGGACCTATACTTGCGTAGTCACACAATATATGTTAAAAGAATAAGTAAACCTATTCACAGCAGCAGAATACCAAGAAATAAATGGTTAAACTGTTTCTTTCTAAATCTGAAGGAACAAAAAGGTTTTCTTCAATATGTACAACACTAATAAATTGGGACACTCCTCCTATTTTGCTGAGTCACTTAAAAATCTGAATTTAAGCTGTCATATTAGAAGACAAACAATGAAATACAAGATTA... | benign | 31,965 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 38997474, gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1): what disease(s) if pathogenic? | benign | TGTAGTAGAAAGGAAAGTTTTTCTATATGTGCCTGGTAAAATTCAGCTAATATACAGGAAAATCATAAATCACTAATAAGGACATAATTATTCAAATAAAAGTAGAACATTTAAAGCATTAACATTCTATTTTGCTAAAGCCCTGGTATCTAAATTGTTAAAGAATGCATTTCTTTAAATAACTAAGTTTTAGTCCTATAAATACTAGAGTATTTGTTATTTTAATACATTTGGGTAGAAGTTTTTCTAAAATGTATTGTATATTTCCCTGGTTTTTAAAACAGACTATTTTGAGCAAATTTAACCTTGTTGAAAAGCCA... | TGTAGTAGAAAGGAAAGTTTTTCTATATGTGCCTGGTAAAATTCAGCTAATATACAGGAAAATCATAAATCACTAATAAGGACATAATTATTCAAATAAAAGTAGAACATTTAAAGCATTAACATTCTATTTTGCTAAAGCCCTGGTATCTAAATTGTTAAAGAATGCATTTCTTTAAATAACTAAGTTTTAGTCCTATAAATACTAGAGTATTTGTTATTTTAATACATTTGGGTAGAAGTTTTTCTAAAATGTATTGTATATTTCCCTGGTTTTTAAAACAGACTATTTTGAGCAAATTTAACCTTGTTGAAAAGCCA... | benign | 32,040 |
Gene mutation in SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) at chromosome 2, position 39006537—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TAAATAATTTGGGTGGGGAAATAAATTTGAGTATTTCATAAGATATTAAAGATACTTCAGTTTGATATTAGAGTTAAATATAATTTTGAAAGTCATAAAAAAAGCTAGAAGAAAATATGATTATTACTAGATTATATGAACTTTCTAAGGTTAGAAACAATAGAAACCAGAATGAGAAAGGACAGATGGTAGAATTTAAAACTAATACATGTCAATGAATAAAAAGTACAAGGCAGATTGTTTGCAGGAGATACGAAAAATGACATGGACAAGAGGAAATACAAATATTAAAGAATGTATGAAAAAAATCTCCACAGTAA... | TAAATAATTTGGGTGGGGAAATAAATTTGAGTATTTCATAAGATATTAAAGATACTTCAGTTTGATATTAGAGTTAAATATAATTTTGAAAGTCATAAAAAAAGCTAGAAGAAAATATGATTATTACTAGATTATATGAACTTTCTAAGGTTAGAAACAATAGAAACCAGAATGAGAAAGGACAGATGGTAGAATTTAAAACTAATACATGTCAATGAATAAAAAGTACAAGGCAGATTGTTTGCAGGAGATACGAAAAATGACATGGACAAGAGGAAATACAAATATTAAAGAATGTATGAAAAAAATCTCCACAGTAA... | benign | 32,047 |
Is the genetic variant on chromosome 2, position 39006537, gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TAAATAATTTGGGTGGGGAAATAAATTTGAGTATTTCATAAGATATTAAAGATACTTCAGTTTGATATTAGAGTTAAATATAATTTTGAAAGTCATAAAAAAAGCTAGAAGAAAATATGATTATTACTAGATTATATGAACTTTCTAAGGTTAGAAACAATAGAAACCAGAATGAGAAAGGACAGATGGTAGAATTTAAAACTAATACATGTCAATGAATAAAAAGTACAAGGCAGATTGTTTGCAGGAGATACGAAAAATGACATGGACAAGAGGAAATACAAATATTAAAGAATGTATGAAAAAAATCTCCACAGTAA... | TAAATAATTTGGGTGGGGAAATAAATTTGAGTATTTCATAAGATATTAAAGATACTTCAGTTTGATATTAGAGTTAAATATAATTTTGAAAGTCATAAAAAAAGCTAGAAGAAAATATGATTATTACTAGATTATATGAACTTTCTAAGGTTAGAAACAATAGAAACCAGAATGAGAAAGGACAGATGGTAGAATTTAAAACTAATACATGTCAATGAATAAAAAGTACAAGGCAGATTGTTTGCAGGAGATACGAAAAATGACATGGACAAGAGGAAATACAAATATTAAAGAATGTATGAAAAAAATCTCCACAGTAA... | benign | 32,048 |
Variant chromosome 2, position 39007201, gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1): benign or pathogenic? Disease(s)? | benign | ATTAGGCACAGTAAGATTAAAAATAGCTAAAAGTTACATGAATGTGGTCTTTCTCTCCCAAAATATCTCATGTTTTTGGACCAAAGCTGACCATGGATAACTGAAACCGTGGAAAGTGAAACCGTGGAGATGGGAGCACTACTGTAATTCCTCCTCTGGTTATTTGTCTCAAGAAGATATTTTCAAATACAGAAAAATAGTATAAATGAAAATGTGAATCAGAAAATCATGTGGAAAGCAAAAAAGCTGGAAACAATGTGTCCAATCACAGGGTAATGGTTAAAACAAATTGTCCAACTTTATGGAATATTATGCAGCCA... | ATTAGGCACAGTAAGATTAAAAATAGCTAAAAGTTACATGAATGTGGTCTTTCTCTCCCAAAATATCTCATGTTTTTGGACCAAAGCTGACCATGGATAACTGAAACCGTGGAAAGTGAAACCGTGGAGATGGGAGCACTACTGTAATTCCTCCTCTGGTTATTTGTCTCAAGAAGATATTTTCAAATACAGAAAAATAGTATAAATGAAAATGTGAATCAGAAAATCATGTGGAAAGCAAAAAAGCTGGAAACAATGTGTCCAATCACAGGGTAATGGTTAAAACAAATTGTCCAACTTTATGGAATATTATGCAGCCA... | benign | 32,061 |
Clinical classification of chromosome 2, position 39007201, gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1): benign or pathogenic? Disease(s) if pathogenic? | benign | ATTAGGCACAGTAAGATTAAAAATAGCTAAAAGTTACATGAATGTGGTCTTTCTCTCCCAAAATATCTCATGTTTTTGGACCAAAGCTGACCATGGATAACTGAAACCGTGGAAAGTGAAACCGTGGAGATGGGAGCACTACTGTAATTCCTCCTCTGGTTATTTGTCTCAAGAAGATATTTTCAAATACAGAAAAATAGTATAAATGAAAATGTGAATCAGAAAATCATGTGGAAAGCAAAAAAGCTGGAAACAATGTGTCCAATCACAGGGTAATGGTTAAAACAAATTGTCCAACTTTATGGAATATTATGCAGCCA... | ATTAGGCACAGTAAGATTAAAAATAGCTAAAAGTTACATGAATGTGGTCTTTCTCTCCCAAAATATCTCATGTTTTTGGACCAAAGCTGACCATGGATAACTGAAACCGTGGAAAGTGAAACCGTGGAGATGGGAGCACTACTGTAATTCCTCCTCTGGTTATTTGTCTCAAGAAGATATTTTCAAATACAGAAAAATAGTATAAATGAAAATGTGAATCAGAAAATCATGTGGAAAGCAAAAAAGCTGGAAACAATGTGTCCAATCACAGGGTAATGGTTAAAACAAATTGTCCAACTTTATGGAATATTATGCAGCCA... | benign | 32,062 |
Does the chromosome 2 mutation at position 39013443 within gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GTACAGTAATCAATGCATTCACACATCTTTTTTTTTTCTTTTGGTCTAAAGGAGGAGAGGAAAAAAACCTACCACAAAAGGGTCCTAGGAAATAAAATAGATTCTAACACTGTAATTTTCAGAAATACGATTTTCAGTGGGAGATCTATAAATTTATCTCATTTTCTCATTTAGTTATTAAAAAGTGAATAATTTAAGATTCTAAGTAGTCTCCATTTAAAATCAGAAGGACATTTTTGAGATAATTACATCAATGTAGTATGATTAAAAAAGACTATAATGGCTGTAAGTTCACAATAAAGCAGTAGCTAACATTTATT... | GTACAGTAATCAATGCATTCACACATCTTTTTTTTTTCTTTTGGTCTAAAGGAGGAGAGGAAAAAAACCTACCACAAAAGGGTCCTAGGAAATAAAATAGATTCTAACACTGTAATTTTCAGAAATACGATTTTCAGTGGGAGATCTATAAATTTATCTCATTTTCTCATTTAGTTATTAAAAAGTGAATAATTTAAGATTCTAAGTAGTCTCCATTTAAAATCAGAAGGACATTTTTGAGATAATTACATCAATGTAGTATGATTAAAAAAGACTATAATGGCTGTAAGTTCACAATAAAGCAGTAGCTAACATTTATT... | benign | 32,076 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 39013443, gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1). What disease(s) is it linked to if pathogenic? | benign | GTACAGTAATCAATGCATTCACACATCTTTTTTTTTTCTTTTGGTCTAAAGGAGGAGAGGAAAAAAACCTACCACAAAAGGGTCCTAGGAAATAAAATAGATTCTAACACTGTAATTTTCAGAAATACGATTTTCAGTGGGAGATCTATAAATTTATCTCATTTTCTCATTTAGTTATTAAAAAGTGAATAATTTAAGATTCTAAGTAGTCTCCATTTAAAATCAGAAGGACATTTTTGAGATAATTACATCAATGTAGTATGATTAAAAAAGACTATAATGGCTGTAAGTTCACAATAAAGCAGTAGCTAACATTTATT... | GTACAGTAATCAATGCATTCACACATCTTTTTTTTTTCTTTTGGTCTAAAGGAGGAGAGGAAAAAAACCTACCACAAAAGGGTCCTAGGAAATAAAATAGATTCTAACACTGTAATTTTCAGAAATACGATTTTCAGTGGGAGATCTATAAATTTATCTCATTTTCTCATTTAGTTATTAAAAAGTGAATAATTTAAGATTCTAAGTAGTCTCCATTTAAAATCAGAAGGACATTTTTGAGATAATTACATCAATGTAGTATGATTAAAAAAGACTATAATGGCTGTAAGTTCACAATAAAGCAGTAGCTAACATTTATT... | benign | 32,077 |
Variant in gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1), located at chromosome 2 position 39014848: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | AGTGTGAGTTTTGATGTGGCTCTGTTTTATATTGTACATGAAAGTACTATTATTTAACTATTTTCTGATTATCATTTAGAGCATACAAAGGAAATAAAAATAAGTTTGTCTAAGATATCCTTAGAGCCATACACTCACGTAATCTTTAAAACTAGAAGGAAAACCTTAGAGATCGACAAACCTAGCTCCTTATGTTATTGATAAGAAAACTGAAGTCTAAAGAATCTAAGTGATTTTGCCCAAAGTCACGTATCTGATTAGTGGCAGTGTTAGACATAGAGTCTCAATTTAATCCACTCTGCTTCCTCTCTGATTCTATT... | AGTGTGAGTTTTGATGTGGCTCTGTTTTATATTGTACATGAAAGTACTATTATTTAACTATTTTCTGATTATCATTTAGAGCATACAAAGGAAATAAAAATAAGTTTGTCTAAGATATCCTTAGAGCCATACACTCACGTAATCTTTAAAACTAGAAGGAAAACCTTAGAGATCGACAAACCTAGCTCCTTATGTTATTGATAAGAAAACTGAAGTCTAAAGAATCTAAGTGATTTTGCCCAAAGTCACGTATCTGATTAGTGGCAGTGTTAGACATAGAGTCTCAATTTAATCCACTCTGCTTCCTCTCTGATTCTATT... | benign | 32,098 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 39035314, gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1): what disease(s) if pathogenic? | benign | ACAAAATTTCCTGCCCAATATACTGCTAACTTTGCAATATAACTTAGGCAGTAATACGAACAAGGGATACACATGCTTAAATCAGTAGAAATCTTAAATTGCTAAATGATGCACTTATTAAAATTCTATTAATGTAAGTTATAATTTTAGAAATTTTAATTGCCTACACTTGAAGGAGTAAAAATTTCTTTTATATTATTAAGATGATTGGGTTTTATAGCCTTCTGAACTTTCATCAAAGCTTCTTGGGTTCATTTGGAGGGGAAGGTTGTTTTGTTTTGTATTTTTGAGACAGGGGCTTGCTCTGTTTCTCAGGCTGG... | ACAAAATTTCCTGCCCAATATACTGCTAACTTTGCAATATAACTTAGGCAGTAATACGAACAAGGGATACACATGCTTAAATCAGTAGAAATCTTAAATTGCTAAATGATGCACTTATTAAAATTCTATTAATGTAAGTTATAATTTTAGAAATTTTAATTGCCTACACTTGAAGGAGTAAAAATTTCTTTTATATTATTAAGATGATTGGGTTTTATAGCCTTCTGAACTTTCATCAAAGCTTCTTGGGTTCATTTGGAGGGGAAGGTTGTTTTGTTTTGTATTTTTGAGACAGGGGCTTGCTCTGTTTCTCAGGCTGG... | benign | 32,167 |
The genetic variant at chromosome 2, position 39054828, affecting gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | TGTTTTCATTTCTTCTGGGTAAAAACCTAGGAGTAGAATTGCTGGGCAATATGGTTAGTTTATGTTTATTGTTATAAAGAACTGCCAAACTGGCCAGGCATGGTGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATGAGCCAGGCGTGGTGGCACACACCTGTAATCCCAGCTACACGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTACAGTGAG... | TGTTTTCATTTCTTCTGGGTAAAAACCTAGGAGTAGAATTGCTGGGCAATATGGTTAGTTTATGTTTATTGTTATAAAGAACTGCCAAACTGGCCAGGCATGGTGGCTCACGCCTGTAATTCCAGCATTTTGGGAGGCCAAGGCTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATGAGCCAGGCGTGGTGGCACACACCTGTAATCCCAGCTACACGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTACAGTGAG... | benign | 32,195 |
Clinically, how would you classify the variant at chromosome 2, position 39058659, gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | ATACAATTTTATTCTATATGAATAGTACGTTAGCATCTAATAAGTCATAAAAAGAAACTTAAGAAAAAAATAGAAAAGCTCAGTTTCCTACCTTGTCAGCACACATTGCCACTTTAATATCTTGTTTTGTAATTTCATAATGCCGTATATTTCTTACATAATTCCCAACCAGCTTTAAAATGTCTGCAGAAATGTATTCTAAGACTGCTACTATGTAAACAGAAACCTGGTGGTCAATTTTATAACCTAGGACCTCCTGCAAAATTAAAAGAAAAGCATGTTTAAACATCATATACTGTACATTTAACACACTGATTAAA... | ATACAATTTTATTCTATATGAATAGTACGTTAGCATCTAATAAGTCATAAAAAGAAACTTAAGAAAAAAATAGAAAAGCTCAGTTTCCTACCTTGTCAGCACACATTGCCACTTTAATATCTTGTTTTGTAATTTCATAATGCCGTATATTTCTTACATAATTCCCAACCAGCTTTAAAATGTCTGCAGAAATGTATTCTAAGACTGCTACTATGTAAACAGAAACCTGGTGGTCAATTTTATAACCTAGGACCTCCTGCAAAATTAAAAGAAAAGCATGTTTAAACATCATATACTGTACATTTAACACACTGATTAAA... | benign | 32,208 |
Does the genetic variant at chromosome 2, position 39067611, impacting gene SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CTTTCAGATGTCCTAATATTATCAGTTCTCTGACCTTACTGAGAACTCTAGTACCCTTTTCTCTCCATGTTTTTCCATTATATGTGCCCTCTCCTACCTGGTATCAGAATGCATGCTCAAAAAGCTAGACTTTCTGGTTAAAAGTCTTGGCTTCACTACTTAATAACTTGGGCAGGTTATTCAACCTCTCTGTGCTTCAGTTGAATCATTCATTCAACTTATATTTTCTGAGTGTCTTCTCTGTGCCAGATATTGCTCTAGGTGCTGATGATTCAACAGTGAACAACAACAACAAAAATTCCCTGGAGCTTACATTCTAG... | CTTTCAGATGTCCTAATATTATCAGTTCTCTGACCTTACTGAGAACTCTAGTACCCTTTTCTCTCCATGTTTTTCCATTATATGTGCCCTCTCCTACCTGGTATCAGAATGCATGCTCAAAAAGCTAGACTTTCTGGTTAAAAGTCTTGGCTTCACTACTTAATAACTTGGGCAGGTTATTCAACCTCTCTGTGCTTCAGTTGAATCATTCATTCAACTTATATTTTCTGAGTGTCTTCTCTGTGCCAGATATTGCTCTAGGTGCTGATGATTCAACAGTGAACAACAACAACAAAAATTCCCTGGAGCTTACATTCTAG... | benign | 32,222 |
Considering the variant on chromosome 2, location 42048690, involving gene PKDCC, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Rhizomelic_limb_shortening_with_dysmorphic_features'] | GAACGCCAGACCTCTTCAGGGAAAATCTCCCCTCCCTGGATACCCCCCCACCCACCCCCACCCCCAGAAAAAAGGCTGTGGACCCTTCTCCTCCCTGACCCCTCCCCAGCCAATCCCTGACACTGTGAGGAGGACAGAGATTAACCTGGCCCAGAGGGAGGCAGGAAGCTGCCCAGGAAGGTGAGAGGATCTAGGTGGGCAGTTTCAGAGTGGCGGGGAAGAGGAGAGCTGCGAGGGGGAGGGGCAGCGGCTTATCTCTCCCAGGAGGGGGGAGCTCACTCCAAACAGCTAGTGCACTGGCGTGTGAAAGCCCCTCAATT... | GAACGCCAGACCTCTTCAGGGAAAATCTCCCCTCCCTGGATACCCCCCCACCCACCCCCACCCCCAGAAAAAAGGCTGTGGACCCTTCTCCTCCCTGACCCCTCCCCAGCCAATCCCTGACACTGTGAGGAGGACAGAGATTAACCTGGCCCAGAGGGAGGCAGGAAGCTGCCCAGGAAGGTGAGAGGATCTAGGTGGGCAGTTTCAGAGTGGCGGGGAAGAGGAGAGCTGCGAGGGGGAGGGGCAGCGGCTTATCTCTCCCAGGAGGGGGGAGCTCACTCCAAACAGCTAGTGCACTGGCGTGTGAAAGCCCCTCAATT... | pathogenic | 32,250 |
Does the variant on chromosome 2 at location 42048804 affecting gene PKDCC have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Rhizomelic_limb_shortening_with_dysmorphic_features'] | CCCTGACACTGTGAGGAGGACAGAGATTAACCTGGCCCAGAGGGAGGCAGGAAGCTGCCCAGGAAGGTGAGAGGATCTAGGTGGGCAGTTTCAGAGTGGCGGGGAAGAGGAGAGCTGCGAGGGGGAGGGGCAGCGGCTTATCTCTCCCAGGAGGGGGGAGCTCACTCCAAACAGCTAGTGCACTGGCGTGTGAAAGCCCCTCAATTAGCACTAATGATGCAATCAGGGAGGGAGGAGGAGGGACCGAAGTTCTGGTGGCGTCAGCACCAACTTACACACAAGGTACACATTCCCTTCATCGGACACAATGGCCCCTTCAG... | CCCTGACACTGTGAGGAGGACAGAGATTAACCTGGCCCAGAGGGAGGCAGGAAGCTGCCCAGGAAGGTGAGAGGATCTAGGTGGGCAGTTTCAGAGTGGCGGGGAAGAGGAGAGCTGCGAGGGGGAGGGGCAGCGGCTTATCTCTCCCAGGAGGGGGGAGCTCACTCCAAACAGCTAGTGCACTGGCGTGTGAAAGCCCCTCAATTAGCACTAATGATGCAATCAGGGAGGGAGGAGGAGGGACCGAAGTTCTGGTGGCGTCAGCACCAACTTACACACAAGGTACACATTCCCTTCATCGGACACAATGGCCCCTTCAG... | pathogenic | 32,252 |
A mutation at chromosome position 42770143 on chromosome 2 in gene HAAO (3-hydroxyanthranilate 3,4-dioxygenase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Congenital_NAD_deficiency_disorder', 'Vertebral,_cardiac,_renal,_and_limb_defects_syndrome_1'] | CTGGGCTGCAGGCCTCCCTGTGCCCGCCGCTGCAACAGGTATTTGGGATCACACATGCCTGCCTTTCACGTGCAGTGCACCCGTGGTCCCTCTGATGTGTGCTCATGCGAAGGCATGCTCACCAGGGCACATGAGGGACGCATTTCCATCAGCTTCCCAGAGGGTGCCACCTCCCTTTCTCTGAGAGAGGTTATGAGTCTGGCCTCAGGAGGAGGAGGGGACAAGGAAGGTGAGGCTGAGGGCTCTCTGACATGCACCAGCCTGGAAGCACACAGCTACTGTGCAGGGCCGTGCTGCTGATGCCCTGGAGAGGGTGCATA... | CTGGGCTGCAGGCCTCCCTGTGCCCGCCGCTGCAACAGGTATTTGGGATCACACATGCCTGCCTTTCACGTGCAGTGCACCCGTGGTCCCTCTGATGTGTGCTCATGCGAAGGCATGCTCACCAGGGCACATGAGGGACGCATTTCCATCAGCTTCCCAGAGGGTGCCACCTCCCTTTCTCTGAGAGAGGTTATGAGTCTGGCCTCAGGAGGAGGAGGGGACAAGGAAGGTGAGGCTGAGGGCTCTCTGACATGCACCAGCCTGGAAGCACACAGCTACTGTGCAGGGCCGTGCTGCTGATGCCCTGGAGAGGGTGCATA... | pathogenic | 32,266 |
Clinically, how would you classify the variant at chromosome 2, position 43824358, gene DYNC2LI1: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Sitosterolemia'] | CCTTGAAACTCTCTCCTTCCTCATCCTCTCTGATGCTGCCCAATCCTGCTTCTCTTTCTACCTCCCTGATCACCCTCTGCCTCCTCTGTTGGTTGCTGTCCTCTTCCCACCCTCTGAATGTGTCTGTTTTAAGGTTTTACATTCAGGCTGCTTTCTCCCCTCCCCCAGGCCCCCCCCCATGCACCTGGGTCCTAGCTACTTCAGAGTCCTCTCTTCTCTGGCCCAGGCCCTGCCGTGAATGTGGGACAGGTCATTCCCAGGCACATGTCATCTTGTTGGTTTGTTCTCAGGTCTCCTGCAACCCACAGTTGGGCTATTTA... | CCTTGAAACTCTCTCCTTCCTCATCCTCTCTGATGCTGCCCAATCCTGCTTCTCTTTCTACCTCCCTGATCACCCTCTGCCTCCTCTGTTGGTTGCTGTCCTCTTCCCACCCTCTGAATGTGTCTGTTTTAAGGTTTTACATTCAGGCTGCTTTCTCCCCTCCCCCAGGCCCCCCCCCATGCACCTGGGTCCTAGCTACTTCAGAGTCCTCTCTTCTCTGGCCCAGGCCCTGCCGTGAATGTGGGACAGGTCATTCCCAGGCACATGTCATCTTGTTGGTTTGTTCTCAGGTCTCCTGCAACCCACAGTTGGGCTATTTA... | pathogenic | 32,348 |
Located at chromosome 2 position 43828041, the variant affecting gene DYNC2LI1—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Sitosterolemia', 'Sitosterolemia_1'] | TGAGATGAGGTCTTCCTCTGTCACCCAGGCTAGAGTGCAATGGCATGATCACGACTCCCTGCAGCCTTGACCTACTGGGCTCAAGCGATCCTCTCACCTCAGCCTTCCAAGTAGCTGGGACCACAGATATGCACCACCATGCCTGGCTAATTTTTCTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTAGAGATGGGGAGTCTCACTTTATTGCTCAGGATGGACTCAAACTCCTGGCCTCAAGTGCTCCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCACTGTGCCTGGCCACTGGTACAAATC... | TGAGATGAGGTCTTCCTCTGTCACCCAGGCTAGAGTGCAATGGCATGATCACGACTCCCTGCAGCCTTGACCTACTGGGCTCAAGCGATCCTCTCACCTCAGCCTTCCAAGTAGCTGGGACCACAGATATGCACCACCATGCCTGGCTAATTTTTCTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTAGAGATGGGGAGTCTCACTTTATTGCTCAGGATGGACTCAAACTCCTGGCCTCAAGTGCTCCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCACTGTGCCTGGCCACTGGTACAAATC... | pathogenic | 32,364 |
Chromosome 2, position 43831752, gene ABCG5 (ATP binding cassette subfamily G member 5): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTCATATGGTAATAAGTTTTGTTTCCAGACACCCCTAATAAGGCCGTGTTATGAAAATGGAAACAAAACCATTGCATTAAAAAACAATAAGCTAGATTGCAGAAGAAGAGGGAATGACTTGTGGACCAACATTCAAGAGGAGTCAGGGAGTGGGGTTGACGGCATAGATGTAGCTTTGACCCACCCAAAGAATGGACATATCTGAAATAGGTACAAAGGAATAATGAGAAGGTAAAAATGCATAAATAAACTAGATATAGATATATTCTGGAACAAAAGAAAGCTCTTCTCTTGCCATCAGGGTAGAAGGATCCTAGAAT... | CTCATATGGTAATAAGTTTTGTTTCCAGACACCCCTAATAAGGCCGTGTTATGAAAATGGAAACAAAACCATTGCATTAAAAAACAATAAGCTAGATTGCAGAAGAAGAGGGAATGACTTGTGGACCAACATTCAAGAGGAGTCAGGGAGTGGGGTTGACGGCATAGATGTAGCTTTGACCCACCCAAAGAATGGACATATCTGAAATAGGTACAAAGGAATAATGAGAAGGTAAAAATGCATAAATAAACTAGATATAGATATATTCTGGAACAAAAGAAAGCTCTTCTCTTGCCATCAGGGTAGAAGGATCCTAGAAT... | benign | 32,371 |
Variant on chromosome 2, at position 43851805, affecting ABCG8 (ATP binding cassette subfamily G member 8): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Sitosterolemia_1'] | CTCTCCTGGCTATTTTGTTCCACTCATGTTCTCAGGGATCTTAAATGAGGTACACCCAGAGGTGGTGCACAGGCCCCTTCTACCCTGAGAGCCTCTGCACAGTAACCAGAAAGATCATGTGAAGAAGCTTCTTGGTTTTTGGAGATCAAAACTCCATCTGGGGCCGGGCACGGTGGCTCACGTCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCGCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGTGTGG... | CTCTCCTGGCTATTTTGTTCCACTCATGTTCTCAGGGATCTTAAATGAGGTACACCCAGAGGTGGTGCACAGGCCCCTTCTACCCTGAGAGCCTCTGCACAGTAACCAGAAAGATCATGTGAAGAAGCTTCTTGGTTTTTGGAGATCAAAACTCCATCTGGGGCCGGGCACGGTGGCTCACGTCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCGCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGTGTGG... | pathogenic | 32,414 |
Clinically, how would you classify the variant at chromosome 2, position 43852436, gene ABCG8 (ATP binding cassette subfamily G member 8): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['ABCG8-related_disorder', 'Sitosterolemia'] | CTCAAATCAATAATAATTAGTACATCATTCAGAAGAGGGTGCTGTTAACTTGAGTGCAATGAATCTTTTTTTAACTTTTATTTTAGGTTTGGGGATGCACAAGTAGGTTTGTTATATAGGTAAACTAGTGTCACGGGGTTTTGTTGTACAGATTATTTAATCACCCAGGTAGTAAGCTTTGTACCCAAGTGTTTTTTCCTGCTCTCCCTCCTCCCATCCTCCACCCTCAGTTAGGTGAATCCTTTTTTAAAAAAGAGTATTAAAAATACCACTGATGCACTTTGGGAGGCCCAGGCGGGTAGATCACCTGAGGTCAGGAG... | CTCAAATCAATAATAATTAGTACATCATTCAGAAGAGGGTGCTGTTAACTTGAGTGCAATGAATCTTTTTTTAACTTTTATTTTAGGTTTGGGGATGCACAAGTAGGTTTGTTATATAGGTAAACTAGTGTCACGGGGTTTTGTTGTACAGATTATTTAATCACCCAGGTAGTAAGCTTTGTACCCAAGTGTTTTTTCCTGCTCTCCCTCCTCCCATCCTCCACCCTCAGTTAGGTGAATCCTTTTTTAAAAAAGAGTATTAAAAATACCACTGATGCACTTTGGGAGGCCCAGGCGGGTAGATCACCTGAGGTCAGGAG... | pathogenic | 32,421 |
Variant at chromosome 2, position 43852581, gene ABCG8 (ATP binding cassette subfamily G member 8): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GTACAGATTATTTAATCACCCAGGTAGTAAGCTTTGTACCCAAGTGTTTTTTCCTGCTCTCCCTCCTCCCATCCTCCACCCTCAGTTAGGTGAATCCTTTTTTAAAAAAGAGTATTAAAAATACCACTGATGCACTTTGGGAGGCCCAGGCGGGTAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTCGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGAGAATTGCTTGAACTCGGGAGGCAGAGATTGCAG... | GTACAGATTATTTAATCACCCAGGTAGTAAGCTTTGTACCCAAGTGTTTTTTCCTGCTCTCCCTCCTCCCATCCTCCACCCTCAGTTAGGTGAATCCTTTTTTAAAAAAGAGTATTAAAAATACCACTGATGCACTTTGGGAGGCCCAGGCGGGTAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTCGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGAGAATTGCTTGAACTCGGGAGGCAGAGATTGCAG... | benign | 32,424 |
A genetic alteration at chromosome 2, position 43874075, in gene ABCG8 (ATP binding cassette subfamily G member 8)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GGGAGAAGGCTCAGTCACTCGCAGCCCTGTTTCTAGAAAAAGTGCGTGACTTAGATGACTTTCTATGGAAAGCAGAGACGAAGGATCTTGACGAGGACACCTGTGTGGAAAGGTAAGGTGGCAGGCGACTCTGAGAGGAGAGCTCCCTGCAGAAGGTGGCTGCCCCCATGACCTGGCCACATCTTCTGCCTCCCAGCAGCGTGACCCCACTAGACACCAACTGCCTCCCGAGTCCTACGAAGATGCCTGGGGCGGTGCAGCAGTTTACGACGCTGATCCGGTAATTATCTGTCATTTTATTACTGAACCCGCCCCCCTGC... | GGGAGAAGGCTCAGTCACTCGCAGCCCTGTTTCTAGAAAAAGTGCGTGACTTAGATGACTTTCTATGGAAAGCAGAGACGAAGGATCTTGACGAGGACACCTGTGTGGAAAGGTAAGGTGGCAGGCGACTCTGAGAGGAGAGCTCCCTGCAGAAGGTGGCTGCCCCCATGACCTGGCCACATCTTCTGCCTCCCAGCAGCGTGACCCCACTAGACACCAACTGCCTCCCGAGTCCTACGAAGATGCCTGGGGCGGTGCAGCAGTTTACGACGCTGATCCGGTAATTATCTGTCATTTTATTACTGAACCCGCCCCCCTGC... | benign | 32,460 |
Mutation at chromosome 2, position 43874398, within ABCG8 (ATP binding cassette subfamily G member 8): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AGTCTTTGTATATCACATTAAGCCCTTTCTATTAAAGTGAATTTAAAGGAGAAAGTGAGAGGTAGAGTCATTTGAAAAAAACAGCATCCAGCAGGGCGTTGGTGGCTTATGCCTGTAATCCCAGCACTCTGGGAGGCTGTGGTGCGTGGATCACTTAAGTTCAGGAGTTCGAGACCAGCCTGGGCAACAAGGTGAAAGCCCATCTCTACAAAAAATTATAAAAAGTAGCCAGTTATGGTGGCGTGGGCCTACCTGGTAGGCTGAGGTGGGAGGATTGCTTGATTCCTGGAGGTGGAGGCTGCAGTGAGCCGTGATTGCAC... | AGTCTTTGTATATCACATTAAGCCCTTTCTATTAAAGTGAATTTAAAGGAGAAAGTGAGAGGTAGAGTCATTTGAAAAAAACAGCATCCAGCAGGGCGTTGGTGGCTTATGCCTGTAATCCCAGCACTCTGGGAGGCTGTGGTGCGTGGATCACTTAAGTTCAGGAGTTCGAGACCAGCCTGGGCAACAAGGTGAAAGCCCATCTCTACAAAAAATTATAAAAAGTAGCCAGTTATGGTGGCGTGGGCCTACCTGGTAGGCTGAGGTGGGAGGATTGCTTGATTCCTGGAGGTGGAGGCTGCAGTGAGCCGTGATTGCAC... | benign | 32,465 |
For chromosome 2, position 43874438, gene ABCG8 (ATP binding cassette subfamily G member 8): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Sitosterolemia_1'] | ATTTAAAGGAGAAAGTGAGAGGTAGAGTCATTTGAAAAAAACAGCATCCAGCAGGGCGTTGGTGGCTTATGCCTGTAATCCCAGCACTCTGGGAGGCTGTGGTGCGTGGATCACTTAAGTTCAGGAGTTCGAGACCAGCCTGGGCAACAAGGTGAAAGCCCATCTCTACAAAAAATTATAAAAAGTAGCCAGTTATGGTGGCGTGGGCCTACCTGGTAGGCTGAGGTGGGAGGATTGCTTGATTCCTGGAGGTGGAGGCTGCAGTGAGCCGTGATTGCACCTTCACTCCAGCCTAGGCAGCAGAGCAAGACCCCATCTCA... | ATTTAAAGGAGAAAGTGAGAGGTAGAGTCATTTGAAAAAAACAGCATCCAGCAGGGCGTTGGTGGCTTATGCCTGTAATCCCAGCACTCTGGGAGGCTGTGGTGCGTGGATCACTTAAGTTCAGGAGTTCGAGACCAGCCTGGGCAACAAGGTGAAAGCCCATCTCTACAAAAAATTATAAAAAGTAGCCAGTTATGGTGGCGTGGGCCTACCTGGTAGGCTGAGGTGGGAGGATTGCTTGATTCCTGGAGGTGGAGGCTGCAGTGAGCCGTGATTGCACCTTCACTCCAGCCTAGGCAGCAGAGCAAGACCCCATCTCA... | pathogenic | 32,467 |
Gene LRPPRC (leucine rich pentatricopeptide repeat containing) variant at chromosome position 43889850 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | TCATAGATGAAATCACATCTTTTCAGGATATGAGTATAAAGTAACAAGCCTAGGGCAGAGCTTGTACTGACAAAGTCCTGAAACTACAATGAGAGGAAACACATTGCTCTACTTCGGGATAAGTCATGACCGAGACTCAATTTCAGAGACGCTCTATGAACAGAGGTGCTTGAAGCCACAGTGGCAGAAGGGAAAGATGGGGAAGTGTGCCGAAGAGCCTCCAGGCATGACAGACAGTCCCCTGACCAAGCACAAGTAACAGGCCCTTTGGGTCTCTGCTTCTCACTGGAAAATGATGAAGCCTAGATCTGATGACTCCT... | TCATAGATGAAATCACATCTTTTCAGGATATGAGTATAAAGTAACAAGCCTAGGGCAGAGCTTGTACTGACAAAGTCCTGAAACTACAATGAGAGGAAACACATTGCTCTACTTCGGGATAAGTCATGACCGAGACTCAATTTCAGAGACGCTCTATGAACAGAGGTGCTTGAAGCCACAGTGGCAGAAGGGAAAGATGGGGAAGTGTGCCGAAGAGCCTCCAGGCATGACAGACAGTCCCCTGACCAAGCACAAGTAACAGGCCCTTTGGGTCTCTGCTTCTCACTGGAAAATGATGAAGCCTAGATCTGATGACTCCT... | pathogenic | 32,507 |
The mutation impacting LRPPRC (leucine rich pentatricopeptide repeat containing) on chromosome 2 at position 43894526: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GTATTTAAAGCCTGCTGTAGAGACCTACTGCTCAGGAAAAAAAAGATTCCTTTCAAAATATTACTGCTCAGTGATAATGCACCTGGTCACCCAAGAGCTCTGAAGGAGATATACAGGGAGATTAATGTTGTTCTCAGGTGCCCTAATAAAACATCCATTCTGCAGCCCATAGATCAAGGAGTAATCTTGACTTTCAAGTCTTAACACATTTTGGGCTCACTTCGGCAACACATATACTGAAATTGGAATGATACAGAGAAGATTAGCATGGCCCCTGCACAAAGATGACACGCAAATGTGTAAAGCGTTCCATGTTTTAA... | GTATTTAAAGCCTGCTGTAGAGACCTACTGCTCAGGAAAAAAAAGATTCCTTTCAAAATATTACTGCTCAGTGATAATGCACCTGGTCACCCAAGAGCTCTGAAGGAGATATACAGGGAGATTAATGTTGTTCTCAGGTGCCCTAATAAAACATCCATTCTGCAGCCCATAGATCAAGGAGTAATCTTGACTTTCAAGTCTTAACACATTTTGGGCTCACTTCGGCAACACATATACTGAAATTGGAATGATACAGAGAAGATTAGCATGGCCCCTGCACAAAGATGACACGCAAATGTGTAAAGCGTTCCATGTTTTAA... | benign | 32,510 |
Clinical significance of chromosome 2, position 43894549, gene LRPPRC (leucine rich pentatricopeptide repeat containing): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | CCTACTGCTCAGGAAAAAAAAGATTCCTTTCAAAATATTACTGCTCAGTGATAATGCACCTGGTCACCCAAGAGCTCTGAAGGAGATATACAGGGAGATTAATGTTGTTCTCAGGTGCCCTAATAAAACATCCATTCTGCAGCCCATAGATCAAGGAGTAATCTTGACTTTCAAGTCTTAACACATTTTGGGCTCACTTCGGCAACACATATACTGAAATTGGAATGATACAGAGAAGATTAGCATGGCCCCTGCACAAAGATGACACGCAAATGTGTAAAGCGTTCCATGTTTTAAACATAAAATTAAAAAAAAAAAAC... | CCTACTGCTCAGGAAAAAAAAGATTCCTTTCAAAATATTACTGCTCAGTGATAATGCACCTGGTCACCCAAGAGCTCTGAAGGAGATATACAGGGAGATTAATGTTGTTCTCAGGTGCCCTAATAAAACATCCATTCTGCAGCCCATAGATCAAGGAGTAATCTTGACTTTCAAGTCTTAACACATTTTGGGCTCACTTCGGCAACACATATACTGAAATTGGAATGATACAGAGAAGATTAGCATGGCCCCTGCACAAAGATGACACGCAAATGTGTAAAGCGTTCCATGTTTTAAACATAAAATTAAAAAAAAAAAAC... | pathogenic | 32,511 |
Clinical classification of chromosome 2, position 43899270, gene LRPPRC (leucine rich pentatricopeptide repeat containing): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | AAAAGGCTTTCACTGCAACAGACAGCCAGCGCTTGAGAAAGAGACCAAAGTTAAACTAAAAAAAAAAGTTTACATGACAGACCAGATAAATCAAATGTCTATCCAATCTTAGATGCTATAGTAAAATCAAATATGGCAAGACAATATTTTAGTTTACACTCATCACAGATGTCATTCTTTTAAGTTTCTAAAAGAACACTGCTCTTTCAAAGCTTTAAAACACTGTCAATACTAAAACGAATGGTATAAAAAGAACTTTTTGGGGCCACACAGAACATTTACATTACGCACTGATGTTTTTGACATCTGTGAATAAAGTA... | AAAAGGCTTTCACTGCAACAGACAGCCAGCGCTTGAGAAAGAGACCAAAGTTAAACTAAAAAAAAAAGTTTACATGACAGACCAGATAAATCAAATGTCTATCCAATCTTAGATGCTATAGTAAAATCAAATATGGCAAGACAATATTTTAGTTTACACTCATCACAGATGTCATTCTTTTAAGTTTCTAAAAGAACACTGCTCTTTCAAAGCTTTAAAACACTGTCAATACTAAAACGAATGGTATAAAAAGAACTTTTTGGGGCCACACAGAACATTTACATTACGCACTGATGTTTTTGACATCTGTGAATAAAGTA... | pathogenic | 32,522 |
A genetic variant on chromosome 2, position 43899303, affects the gene LRPPRC (leucine rich pentatricopeptide repeat containing). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | TGAGAAAGAGACCAAAGTTAAACTAAAAAAAAAAGTTTACATGACAGACCAGATAAATCAAATGTCTATCCAATCTTAGATGCTATAGTAAAATCAAATATGGCAAGACAATATTTTAGTTTACACTCATCACAGATGTCATTCTTTTAAGTTTCTAAAAGAACACTGCTCTTTCAAAGCTTTAAAACACTGTCAATACTAAAACGAATGGTATAAAAAGAACTTTTTGGGGCCACACAGAACATTTACATTACGCACTGATGTTTTTGACATCTGTGAATAAAGTATTCTTCGCTACGGCAAGAATAATCTTTTACTGT... | TGAGAAAGAGACCAAAGTTAAACTAAAAAAAAAAGTTTACATGACAGACCAGATAAATCAAATGTCTATCCAATCTTAGATGCTATAGTAAAATCAAATATGGCAAGACAATATTTTAGTTTACACTCATCACAGATGTCATTCTTTTAAGTTTCTAAAAGAACACTGCTCTTTCAAAGCTTTAAAACACTGTCAATACTAAAACGAATGGTATAAAAAGAACTTTTTGGGGCCACACAGAACATTTACATTACGCACTGATGTTTTTGACATCTGTGAATAAAGTATTCTTCGCTACGGCAAGAATAATCTTTTACTGT... | pathogenic | 32,523 |
Regarding the variant at chromosome 2 and position 43899511, affecting gene LRPPRC (leucine rich pentatricopeptide repeat containing): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | TGGTATAAAAAGAACTTTTTGGGGCCACACAGAACATTTACATTACGCACTGATGTTTTTGACATCTGTGAATAAAGTATTCTTCGCTACGGCAAGAATAATCTTTTACTGTTTGACAAGCAGGTAAAGGATGGGTGAAGGGTTTATCATCTGAAACCCCAGTCTAGTGATGAGATGGTAAATGAAAAGACTCTGCTGTTGCATCAACACTCAGCTACCACCAAGAGCCCTTCAGTGAGGTCACTGCAGATAACGCAGTTCTTTCTGAGGGAGCAGGCGCCATCCCTGCTGCCACCCACCCAGGCGGCTGTCAATTGTGC... | TGGTATAAAAAGAACTTTTTGGGGCCACACAGAACATTTACATTACGCACTGATGTTTTTGACATCTGTGAATAAAGTATTCTTCGCTACGGCAAGAATAATCTTTTACTGTTTGACAAGCAGGTAAAGGATGGGTGAAGGGTTTATCATCTGAAACCCCAGTCTAGTGATGAGATGGTAAATGAAAAGACTCTGCTGTTGCATCAACACTCAGCTACCACCAAGAGCCCTTCAGTGAGGTCACTGCAGATAACGCAGTTCTTTCTGAGGGAGCAGGCGCCATCCCTGCTGCCACCCACCCAGGCGGCTGTCAATTGTGC... | pathogenic | 32,525 |
Does the variant on chromosome 2 at location 43901322 affecting gene LRPPRC (leucine rich pentatricopeptide repeat containing) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | AAATCAGTGACAGGTTTATAAATTGCAAACTGATTGGCCAATCTCTCCGCCATGATGCTTACTGGAAAAATGACAGGTAAGAAAAATCTTTCATTAGAACAGTGGTATAACTCACCTACCAAAGAAATTTGGTCTAGTCTCACTAGAGAGAAAATGTGCTTGTGTGTTCTTTAGCACAAACAACTAACTTACTCTTTTCAACTGCTGGTTCCAACTGCTCCTCTATTACTTTTCTGAATAAGTATGCCAAGCCGAAGTATTGGGGTTCAATGACTTTATTCTCTGAAGTAAGCATATTTTCAATGTTTTCTATTGCGGCA... | AAATCAGTGACAGGTTTATAAATTGCAAACTGATTGGCCAATCTCTCCGCCATGATGCTTACTGGAAAAATGACAGGTAAGAAAAATCTTTCATTAGAACAGTGGTATAACTCACCTACCAAAGAAATTTGGTCTAGTCTCACTAGAGAGAAAATGTGCTTGTGTGTTCTTTAGCACAAACAACTAACTTACTCTTTTCAACTGCTGGTTCCAACTGCTCCTCTATTACTTTTCTGAATAAGTATGCCAAGCCGAAGTATTGGGGTTCAATGACTTTATTCTCTGAAGTAAGCATATTTTCAATGTTTTCTATTGCGGCA... | pathogenic | 32,529 |
The mutation in gene LRPPRC (leucine rich pentatricopeptide repeat containing) at chromosome 2, position 43905745—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | TCCTGTAGCTTACACAGGGCACCTAACATAAAAATAAAGGGTACCAATCCAGCTGAAGAAATCTGGGTCAGGTTCAGCTGAAAAATGAACCCCCTGAAATTAGAAAAGTGTTTTGTTCTTATCTCCATGTCTACAGAAACAAAAGCTATTTATGACAATGAGCTTATTTATATGGCGAGCAAGTTTAACTTTTCATTGTTTTAAAATTGTTTATCATTTTATTACATAAAATACTAATAGGACATAAAGTCTTTTTTGGGGGGGCCGGGAGAAGGGTTTTGTTCTTGCCCAGGCTGAGTGCAGTGGCACCATCATGGCTC... | TCCTGTAGCTTACACAGGGCACCTAACATAAAAATAAAGGGTACCAATCCAGCTGAAGAAATCTGGGTCAGGTTCAGCTGAAAAATGAACCCCCTGAAATTAGAAAAGTGTTTTGTTCTTATCTCCATGTCTACAGAAACAAAAGCTATTTATGACAATGAGCTTATTTATATGGCGAGCAAGTTTAACTTTTCATTGTTTTAAAATTGTTTATCATTTTATTACATAAAATACTAATAGGACATAAAGTCTTTTTTGGGGGGGCCGGGAGAAGGGTTTTGTTCTTGCCCAGGCTGAGTGCAGTGGCACCATCATGGCTC... | pathogenic | 32,534 |
Considering the genetic mutation at chromosome 2, position 43912451, impacting LRPPRC (leucine rich pentatricopeptide repeat containing): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | TTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGGGATCCTTCCGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCATGAGCCAACGTGCCTGGGCTTAAATCTCTTTTTAAAAATTTCACCTTATGAAGATTTTCTATTTTGAGTATGTTTTATAATATAGTTACATGTGATACATCAAGTACAATTTGTTATTAATCACATGCGATCAGAATGCTTAAGACATGATTCTTCAATCACTTGGGCTATGGAGTAAAATGTACATTCTCAGGCCCCACACCAAAT... | TTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGGGATCCTTCCGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCATGAGCCAACGTGCCTGGGCTTAAATCTCTTTTTAAAAATTTCACCTTATGAAGATTTTCTATTTTGAGTATGTTTTATAATATAGTTACATGTGATACATCAAGTACAATTTGTTATTAATCACATGCGATCAGAATGCTTAAGACATGATTCTTCAATCACTTGGGCTATGGAGTAAAATGTACATTCTCAGGCCCCACACCAAAT... | pathogenic | 32,537 |
The chromosome 2, position 43918025 genetic variant in gene LRPPRC (leucine rich pentatricopeptide repeat containing): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | CAGGTCTCAAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAGTTGTTGGGATTATAGGCATGAGCCTGCAAGCCTGGCCAAACCTTCTAGTTAAGTTAGGAAATTAAGAAGTTCTATAAATTTCTAAATTGATTCCTTTCCAATAAACCTCAAAACTATCAATACTAAAATAAAAAAATTCTCTTGTGTTTATTTCCTTAATGGTAAACTATCATGAACCATCCTTGAAATCCACCCCAAAACTGAAGGAATCATTCTATGGAAAGCTAGAATGAAAAGAAATTAACAAAAGTAAAGAAAATAAGAGTAAT... | CAGGTCTCAAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAGTTGTTGGGATTATAGGCATGAGCCTGCAAGCCTGGCCAAACCTTCTAGTTAAGTTAGGAAATTAAGAAGTTCTATAAATTTCTAAATTGATTCCTTTCCAATAAACCTCAAAACTATCAATACTAAAATAAAAAAATTCTCTTGTGTTTATTTCCTTAATGGTAAACTATCATGAACCATCCTTGAAATCCACCCCAAAACTGAAGGAATCATTCTATGGAAAGCTAGAATGAAAAGAAATTAACAAAAGTAAAGAAAATAAGAGTAAT... | pathogenic | 32,538 |
For chromosome 2, position 43918025, gene LRPPRC (leucine rich pentatricopeptide repeat containing): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | CAGGTCTCAAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAGTTGTTGGGATTATAGGCATGAGCCTGCAAGCCTGGCCAAACCTTCTAGTTAAGTTAGGAAATTAAGAAGTTCTATAAATTTCTAAATTGATTCCTTTCCAATAAACCTCAAAACTATCAATACTAAAATAAAAAAATTCTCTTGTGTTTATTTCCTTAATGGTAAACTATCATGAACCATCCTTGAAATCCACCCCAAAACTGAAGGAATCATTCTATGGAAAGCTAGAATGAAAAGAAATTAACAAAAGTAAAGAAAATAAGAGTAAT... | CAGGTCTCAAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAGTTGTTGGGATTATAGGCATGAGCCTGCAAGCCTGGCCAAACCTTCTAGTTAAGTTAGGAAATTAAGAAGTTCTATAAATTTCTAAATTGATTCCTTTCCAATAAACCTCAAAACTATCAATACTAAAATAAAAAAATTCTCTTGTGTTTATTTCCTTAATGGTAAACTATCATGAACCATCCTTGAAATCCACCCCAAAACTGAAGGAATCATTCTATGGAAAGCTAGAATGAAAAGAAATTAACAAAAGTAAAGAAAATAAGAGTAAT... | pathogenic | 32,539 |
Gene LRPPRC (leucine rich pentatricopeptide repeat containing) variant at chromosome position 43918281 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | GGAATCATTCTATGGAAAGCTAGAATGAAAAGAAATTAACAAAAGTAAAGAAAATAAGAGTAATATATGATTCTGGAACAGTATAAGAAGTCTAAGTAAAAACATAAAATTCAACTTACAAGCTCATAACAGAGGGTTAAAGACGGTCATAAAAAATTTAAAGTAGGCATAATAAAGGTGAAGATGTCTTCAGGAAAGTTTAATACTAGAGAAAGGGAAAGAGTCAAGAAACAGACCTCTAACCTTGAGATATTGCTGGATCACTTCAACACATACTAGTATAGTAATTAATGCCTTAATCATTTTTTGCTTTCAAGTAA... | GGAATCATTCTATGGAAAGCTAGAATGAAAAGAAATTAACAAAAGTAAAGAAAATAAGAGTAATATATGATTCTGGAACAGTATAAGAAGTCTAAGTAAAAACATAAAATTCAACTTACAAGCTCATAACAGAGGGTTAAAGACGGTCATAAAAAATTTAAAGTAGGCATAATAAAGGTGAAGATGTCTTCAGGAAAGTTTAATACTAGAGAAAGGGAAAGAGTCAAGAAACAGACCTCTAACCTTGAGATATTGCTGGATCACTTCAACACATACTAGTATAGTAATTAATGCCTTAATCATTTTTTGCTTTCAAGTAA... | pathogenic | 32,543 |
Variant in gene LRPPRC (leucine rich pentatricopeptide repeat containing), located at chromosome 2 position 43918288: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | TTCTATGGAAAGCTAGAATGAAAAGAAATTAACAAAAGTAAAGAAAATAAGAGTAATATATGATTCTGGAACAGTATAAGAAGTCTAAGTAAAAACATAAAATTCAACTTACAAGCTCATAACAGAGGGTTAAAGACGGTCATAAAAAATTTAAAGTAGGCATAATAAAGGTGAAGATGTCTTCAGGAAAGTTTAATACTAGAGAAAGGGAAAGAGTCAAGAAACAGACCTCTAACCTTGAGATATTGCTGGATCACTTCAACACATACTAGTATAGTAATTAATGCCTTAATCATTTTTTGCTTTCAAGTAAGTTATAA... | TTCTATGGAAAGCTAGAATGAAAAGAAATTAACAAAAGTAAAGAAAATAAGAGTAATATATGATTCTGGAACAGTATAAGAAGTCTAAGTAAAAACATAAAATTCAACTTACAAGCTCATAACAGAGGGTTAAAGACGGTCATAAAAAATTTAAAGTAGGCATAATAAAGGTGAAGATGTCTTCAGGAAAGTTTAATACTAGAGAAAGGGAAAGAGTCAAGAAACAGACCTCTAACCTTGAGATATTGCTGGATCACTTCAACACATACTAGTATAGTAATTAATGCCTTAATCATTTTTTGCTTTCAAGTAAGTTATAA... | pathogenic | 32,544 |
Does the genetic variant at chromosome 2, position 43918293, impacting gene LRPPRC (leucine rich pentatricopeptide repeat containing), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | TGGAAAGCTAGAATGAAAAGAAATTAACAAAAGTAAAGAAAATAAGAGTAATATATGATTCTGGAACAGTATAAGAAGTCTAAGTAAAAACATAAAATTCAACTTACAAGCTCATAACAGAGGGTTAAAGACGGTCATAAAAAATTTAAAGTAGGCATAATAAAGGTGAAGATGTCTTCAGGAAAGTTTAATACTAGAGAAAGGGAAAGAGTCAAGAAACAGACCTCTAACCTTGAGATATTGCTGGATCACTTCAACACATACTAGTATAGTAATTAATGCCTTAATCATTTTTTGCTTTCAAGTAAGTTATAATATGT... | TGGAAAGCTAGAATGAAAAGAAATTAACAAAAGTAAAGAAAATAAGAGTAATATATGATTCTGGAACAGTATAAGAAGTCTAAGTAAAAACATAAAATTCAACTTACAAGCTCATAACAGAGGGTTAAAGACGGTCATAAAAAATTTAAAGTAGGCATAATAAAGGTGAAGATGTCTTCAGGAAAGTTTAATACTAGAGAAAGGGAAAGAGTCAAGAAACAGACCTCTAACCTTGAGATATTGCTGGATCACTTCAACACATACTAGTATAGTAATTAATGCCTTAATCATTTTTTGCTTTCAAGTAAGTTATAATATGT... | pathogenic | 32,545 |
Clinically, how would you classify the variant at chromosome 2, position 43934197, gene LRPPRC (leucine rich pentatricopeptide repeat containing): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | AAAAAGACTGGAGACTGTCAAATATACTACATATAACACATGATACATGTATGCCAATTCATCTTAAAAACAAACAAACAAAAAAACAGGTGATATTTACACATTGAACCTTGCCTATATCTTTCTTCATTTAATGAGCTTATGACTGGTTTATCTAATTATTTCCACAACGCTTCAAATACACAGCAGCTCTGTAAATTCAACCATAGTGAATCTACCCAATGATAAGACACTATTGCTTTTTTTGGGAATGATAAAAATGTTGCTCATGACTTGTAGTATTCTTTCTGTAAAGCTATTCTTCACCCTTTAAAAAATTT... | AAAAAGACTGGAGACTGTCAAATATACTACATATAACACATGATACATGTATGCCAATTCATCTTAAAAACAAACAAACAAAAAAACAGGTGATATTTACACATTGAACCTTGCCTATATCTTTCTTCATTTAATGAGCTTATGACTGGTTTATCTAATTATTTCCACAACGCTTCAAATACACAGCAGCTCTGTAAATTCAACCATAGTGAATCTACCCAATGATAAGACACTATTGCTTTTTTTGGGAATGATAAAAATGTTGCTCATGACTTGTAGTATTCTTTCTGTAAAGCTATTCTTCACCCTTTAAAAAATTT... | pathogenic | 32,556 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 43934824, gene LRPPRC (leucine rich pentatricopeptide repeat containing): what disease(s) if pathogenic? | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | CATGAGGAAGCTTAGAAAGGTTTAATAACTTGTCCATTATCACATAAGCAGGTAGATGGCAAAACAAGAAATCACTCTTCTGCCTCTGGCTCTATTACACCTTACTACACAAAGACAGGCACATGCATTCCTCCTGCAGAACCTCTCAGAGCTGAGCTTCATTTCCGCTCTGATCAGTGACCTGCTAATACTGACACTGTACCTACAGAGGAGCAGAACTCAATAGCCAGACAGCTCTTCTCACATTTGGATTCACTGTACTTTCAGAAGCGAATGTGGAAGAAAAATTATACCATTTTCTAGAAAATGTAAATGAACCA... | CATGAGGAAGCTTAGAAAGGTTTAATAACTTGTCCATTATCACATAAGCAGGTAGATGGCAAAACAAGAAATCACTCTTCTGCCTCTGGCTCTATTACACCTTACTACACAAAGACAGGCACATGCATTCCTCCTGCAGAACCTCTCAGAGCTGAGCTTCATTTCCGCTCTGATCAGTGACCTGCTAATACTGACACTGTACCTACAGAGGAGCAGAACTCAATAGCCAGACAGCTCTTCTCACATTTGGATTCACTGTACTTTCAGAAGCGAATGTGGAAGAAAAATTATACCATTTTCTAGAAAATGTAAATGAACCA... | pathogenic | 32,562 |
Mutation at chromosome 2, position 43943746, within LRPPRC (leucine rich pentatricopeptide repeat containing): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | GTTTTCTGTAATTTCATAAATATAAAATTTCCTTTATCTTTTTATTAGTCTCATGACTCTGAAAGAGTCAATAGCCCTTTTTATTATGATAGATGAAACTGAAAGACCTCATCATGGAGACTGCATTAGCAAAGTAGTCTAAAAAAAAAAAAAAAAAAAAACTAGGCAAATAAAAACAGAATTAAAATAAAATAAAAATAGAAGATATACATATCTGAAAGTAGTAAAACACCAATAATGAAAAGACACTAATTTAGATTTCCTTAGCTCAATTAGCAGGGAGAGCCAAATTTGACTGAGACACAGAAATATCTGACTTC... | GTTTTCTGTAATTTCATAAATATAAAATTTCCTTTATCTTTTTATTAGTCTCATGACTCTGAAAGAGTCAATAGCCCTTTTTATTATGATAGATGAAACTGAAAGACCTCATCATGGAGACTGCATTAGCAAAGTAGTCTAAAAAAAAAAAAAAAAAAAAACTAGGCAAATAAAAACAGAATTAAAATAAAATAAAAATAGAAGATATACATATCTGAAAGTAGTAAAACACCAATAATGAAAAGACACTAATTTAGATTTCCTTAGCTCAATTAGCAGGGAGAGCCAAATTTGACTGAGACACAGAAATATCTGACTTC... | pathogenic | 32,567 |
Gene LRPPRC (leucine rich pentatricopeptide repeat containing) variant at chromosome position 43943821 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | CCTTTTTATTATGATAGATGAAACTGAAAGACCTCATCATGGAGACTGCATTAGCAAAGTAGTCTAAAAAAAAAAAAAAAAAAAAACTAGGCAAATAAAAACAGAATTAAAATAAAATAAAAATAGAAGATATACATATCTGAAAGTAGTAAAACACCAATAATGAAAAGACACTAATTTAGATTTCCTTAGCTCAATTAGCAGGGAGAGCCAAATTTGACTGAGACACAGAAATATCTGACTTCAGGATATAATCAGAAGCACAGAGGATGCTCTAGGTTAACATTTGAATTCCACACCGTTTCCATTTTCCCATGGGT... | CCTTTTTATTATGATAGATGAAACTGAAAGACCTCATCATGGAGACTGCATTAGCAAAGTAGTCTAAAAAAAAAAAAAAAAAAAAACTAGGCAAATAAAAACAGAATTAAAATAAAATAAAAATAGAAGATATACATATCTGAAAGTAGTAAAACACCAATAATGAAAAGACACTAATTTAGATTTCCTTAGCTCAATTAGCAGGGAGAGCCAAATTTGACTGAGACACAGAAATATCTGACTTCAGGATATAATCAGAAGCACAGAGGATGCTCTAGGTTAACATTTGAATTCCACACCGTTTCCATTTTCCCATGGGT... | pathogenic | 32,570 |
Is the genetic change at chromosome 2, position 43947381, within gene LRPPRC (leucine rich pentatricopeptide repeat containing) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTGGAGCTTGCCATGCTTTGCCAATACTCTTACAAGGCCTACATACTTGCCGGTGTCAAGGACAGCAGATGAATCTAAGCGGTCACTAAAAATTAAAGCCACATTTATATTGTTTTAAAAGTCAATTAACTGCTAAAAGAACAGCAACATCCATTTAATCACTTTTCAAAAGCTCATCAGAAGACCTGAACTAATGTTGGCCTCTACGCTTCAGTTAGGATTTCTTTTTGAAGCCATATACAAGTTCACACGAAATTATATTCAAAGTGACTAGTGAAGTAAAAGCCCAACACTACATATATATTGCATCACTCCATCTG... | TTGGAGCTTGCCATGCTTTGCCAATACTCTTACAAGGCCTACATACTTGCCGGTGTCAAGGACAGCAGATGAATCTAAGCGGTCACTAAAAATTAAAGCCACATTTATATTGTTTTAAAAGTCAATTAACTGCTAAAAGAACAGCAACATCCATTTAATCACTTTTCAAAAGCTCATCAGAAGACCTGAACTAATGTTGGCCTCTACGCTTCAGTTAGGATTTCTTTTTGAAGCCATATACAAGTTCACACGAAATTATATTCAAAGTGACTAGTGAAGTAAAAGCCCAACACTACATATATATTGCATCACTCCATCTG... | benign | 32,588 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 43948173, gene LRPPRC (leucine rich pentatricopeptide repeat containing): what disease(s) if pathogenic? | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | AAGTTCAAGGCATCTTCTACTTTATCATGTCGACAGCATAAATTTATTAAAGCTGCATAGCCACCAGTAACCATGTCGGATTCATATTTTGCTTTCAATTCAAGGGCTTTTTGCATATTCTAAAATACAGCATAGATGTGAAAAAGAAGAAATCAGTGTGAAGGTAAAAATGTCACATTTTTAGCTTTACTGTTCAGAGTTTAGAAAAAGTTAATAGTACTTTAAAAATAAATGGTTTCATGTTAACAACCTGACTCTGCCCCTTGATATTTTTATTCACCTCTAAGAAGTGGGCAAGTCTTACACGTGTAGGGGTTAAA... | AAGTTCAAGGCATCTTCTACTTTATCATGTCGACAGCATAAATTTATTAAAGCTGCATAGCCACCAGTAACCATGTCGGATTCATATTTTGCTTTCAATTCAAGGGCTTTTTGCATATTCTAAAATACAGCATAGATGTGAAAAAGAAGAAATCAGTGTGAAGGTAAAAATGTCACATTTTTAGCTTTACTGTTCAGAGTTTAGAAAAAGTTAATAGTACTTTAAAAATAAATGGTTTCATGTTAACAACCTGACTCTGCCCCTTGATATTTTTATTCACCTCTAAGAAGTGGGCAAGTCTTACACGTGTAGGGGTTAAA... | pathogenic | 32,596 |
The chromosome 2, position 43949600 genetic variant in gene LRPPRC (leucine rich pentatricopeptide repeat containing): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | TATGCAAATTTCTTAGATATGTTGATTTTTCTGAGGTGGGGAACAGGTTTTACCAACTTCTTAGAGGTATACAAGATGATAAAAATGTGAGGAATCACTGGTTTTATAAGTACACAATCCAGAATACTCATTAAATATGGGTATTATAGCATGTAGAATCTAGTCAAAATCCTACTTACTTTTTGAAAGTCTAAATTCTTACTCTCAACCAACAAGTGAGCATCCTAAAATTGAAATTTAAATTAGCCCAGAATTAGAAAACACACGTAAAAATACATCAGCAAACATCAAAAGCAAATTTGTAAGTCTCACCTCATATT... | TATGCAAATTTCTTAGATATGTTGATTTTTCTGAGGTGGGGAACAGGTTTTACCAACTTCTTAGAGGTATACAAGATGATAAAAATGTGAGGAATCACTGGTTTTATAAGTACACAATCCAGAATACTCATTAAATATGGGTATTATAGCATGTAGAATCTAGTCAAAATCCTACTTACTTTTTGAAAGTCTAAATTCTTACTCTCAACCAACAAGTGAGCATCCTAAAATTGAAATTTAAATTAGCCCAGAATTAGAAAACACACGTAAAAATACATCAGCAAACATCAAAAGCAAATTTGTAAGTCTCACCTCATATT... | pathogenic | 32,601 |
Regarding the variant at chromosome 2 and position 43949613, affecting gene LRPPRC (leucine rich pentatricopeptide repeat containing): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | TAGATATGTTGATTTTTCTGAGGTGGGGAACAGGTTTTACCAACTTCTTAGAGGTATACAAGATGATAAAAATGTGAGGAATCACTGGTTTTATAAGTACACAATCCAGAATACTCATTAAATATGGGTATTATAGCATGTAGAATCTAGTCAAAATCCTACTTACTTTTTGAAAGTCTAAATTCTTACTCTCAACCAACAAGTGAGCATCCTAAAATTGAAATTTAAATTAGCCCAGAATTAGAAAACACACGTAAAAATACATCAGCAAACATCAAAAGCAAATTTGTAAGTCTCACCTCATATTACTACTTTTCATC... | TAGATATGTTGATTTTTCTGAGGTGGGGAACAGGTTTTACCAACTTCTTAGAGGTATACAAGATGATAAAAATGTGAGGAATCACTGGTTTTATAAGTACACAATCCAGAATACTCATTAAATATGGGTATTATAGCATGTAGAATCTAGTCAAAATCCTACTTACTTTTTGAAAGTCTAAATTCTTACTCTCAACCAACAAGTGAGCATCCTAAAATTGAAATTTAAATTAGCCCAGAATTAGAAAACACACGTAAAAATACATCAGCAAACATCAAAAGCAAATTTGTAAGTCTCACCTCATATTACTACTTTTCATC... | pathogenic | 32,602 |
Does the chromosome 2 mutation at position 43960605 within gene LRPPRC (leucine rich pentatricopeptide repeat containing) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | AAAAGTCACTTTTAAAATGACCTGCACTGAGTCACTCAAGGAATTTTAAAGGGAACACCACCACATGCCTCTCAGCAGCTTTTAATTTCATGTGATCAAATTAGTTTTCCATGCCTACAAACACAAGTGGGAAAATGTTCTCTACTACTCCAAAACTTAATCAAGATAATCCATTTACTGTTCTCTACTACCTGACATTTCCTGTGATGTAGTAACCAGTAGTGCATTCCTAAGAGCTGCCTGAAGCACGTACCAGCAATCATAGAACGAACCGCTCTTCAAAGACTTGTAAATCAAAGCTGGAGGGGAAGGCACTGACA... | AAAAGTCACTTTTAAAATGACCTGCACTGAGTCACTCAAGGAATTTTAAAGGGAACACCACCACATGCCTCTCAGCAGCTTTTAATTTCATGTGATCAAATTAGTTTTCCATGCCTACAAACACAAGTGGGAAAATGTTCTCTACTACTCCAAAACTTAATCAAGATAATCCATTTACTGTTCTCTACTACCTGACATTTCCTGTGATGTAGTAACCAGTAGTGCATTCCTAAGAGCTGCCTGAAGCACGTACCAGCAATCATAGAACGAACCGCTCTTCAAAGACTTGTAAATCAAAGCTGGAGGGGAAGGCACTGACA... | pathogenic | 32,618 |
A mutation at chromosome position 43973614 on chromosome 2 in gene LRPPRC (leucine rich pentatricopeptide repeat containing): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | TTGAAAACTCTTGGTTCCACTTTGTCTGATCCCCAAATATCTTTGATTTTCTGAAGAGATGTATTTATTCCTCATGAAACACAGCACATCCTCCATCACTGCAGTCACTTTCTTCTGTGATTTCTACCATTTTATACGTGACTTTCACTGGACAAAGAACAAGTTCATTGCACTAATAAGAATGTTACTTTCTTACCTTACACTAAAGAAACTATAAAGAATACATACAGCCATTTCTCTGTTATATAAAAGAAGACTGTAGAATATATACTTTACTATCTTTCAGGACCTACTGCAAAGAAGAATATATTGTTTTTAAA... | TTGAAAACTCTTGGTTCCACTTTGTCTGATCCCCAAATATCTTTGATTTTCTGAAGAGATGTATTTATTCCTCATGAAACACAGCACATCCTCCATCACTGCAGTCACTTTCTTCTGTGATTTCTACCATTTTATACGTGACTTTCACTGGACAAAGAACAAGTTCATTGCACTAATAAGAATGTTACTTTCTTACCTTACACTAAAGAAACTATAAAGAATACATACAGCCATTTCTCTGTTATATAAAAGAAGACTGTAGAATATATACTTTACTATCTTTCAGGACCTACTGCAAAGAAGAATATATTGTTTTTAAA... | pathogenic | 32,629 |
Clinically, how would you classify the variant at chromosome 2, position 43973860, gene LRPPRC (leucine rich pentatricopeptide repeat containing): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | TAAAAGAAGACTGTAGAATATATACTTTACTATCTTTCAGGACCTACTGCAAAGAAGAATATATTGTTTTTAAAAATTGTAAAACTGACAATCTTTTGCACTCTCAGAACACACAATATAAAAGCATAAACTTTTATATTTTTTCAGACAAAACCTTCATCGATTAAAAAATTCACTCTCTTTTAGCAATGTTATTCGTGTAAAAACTGGCAACTAATTTTTAAACAGCAGCTAAGAATTTTTAGAAAATAAACACAGTATAGTACTTACAAAAGCTGAATATGGAAGGGTTATAGTATAAAAAAGGATATTTTAAAAGG... | TAAAAGAAGACTGTAGAATATATACTTTACTATCTTTCAGGACCTACTGCAAAGAAGAATATATTGTTTTTAAAAATTGTAAAACTGACAATCTTTTGCACTCTCAGAACACACAATATAAAAGCATAAACTTTTATATTTTTTCAGACAAAACCTTCATCGATTAAAAAATTCACTCTCTTTTAGCAATGTTATTCGTGTAAAAACTGGCAACTAATTTTTAAACAGCAGCTAAGAATTTTTAGAAAATAAACACAGTATAGTACTTACAAAAGCTGAATATGGAAGGGTTATAGTATAAAAAAGGATATTTTAAAAGG... | pathogenic | 32,632 |
Chromosome 2, position 43974209, gene LRPPRC (leucine rich pentatricopeptide repeat containing): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | CCTAATCACACCTAGACGTGGAAGCTAAGGTCAGTCACTGAATGTCTGTGTGGCCCTCAGTTCCTTCATTCACGTAATGTGAGCTTTCAGTACAGCACTTTTAAAATCTAAATTCTGAGATTCTAAGACAAGATGGATTTGAGATAAAGCCCATTTTCTACTATTTCAACTGCTACAACCATAGAAAGAAATTACCTAACTCTTTTATGTTTACTAAGTAGTAAAAATGTAGTAATCAATTCAACTGTGACATGGTTGTGGAAAGCAGATTAACCTGATGAACAAACATTTCAACTGGTACCAAAAAAATTTTCATACTT... | CCTAATCACACCTAGACGTGGAAGCTAAGGTCAGTCACTGAATGTCTGTGTGGCCCTCAGTTCCTTCATTCACGTAATGTGAGCTTTCAGTACAGCACTTTTAAAATCTAAATTCTGAGATTCTAAGACAAGATGGATTTGAGATAAAGCCCATTTTCTACTATTTCAACTGCTACAACCATAGAAAGAAATTACCTAACTCTTTTATGTTTACTAAGTAGTAAAAATGTAGTAATCAATTCAACTGTGACATGGTTGTGGAAAGCAGATTAACCTGATGAACAAACATTTCAACTGGTACCAAAAAAATTTTCATACTT... | pathogenic | 32,634 |
Variant in LRPPRC (leucine rich pentatricopeptide repeat containing), chromosome 2, position 43982329—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | ATAAAGGGCCAGGCGCGAATCCCAGTACTTTGGGAGGTTGAGGCAGGCAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATATAAAATTAGCTGGGCGAGATGGCGCATGCCTGTAATTCTAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCGGTGAGCCGACATTGCACCACTGCACTCCAGCCTAGACAACAAGATCAAGACTCTGTTTCAAAAAAAAAAAAAAAAAGAAGAAAGAAAGAAAGAGAGAGAGAGAGAG... | ATAAAGGGCCAGGCGCGAATCCCAGTACTTTGGGAGGTTGAGGCAGGCAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATATAAAATTAGCTGGGCGAGATGGCGCATGCCTGTAATTCTAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCGGTGAGCCGACATTGCACCACTGCACTCCAGCCTAGACAACAAGATCAAGACTCTGTTTCAAAAAAAAAAAAAAAAAGAAGAAAGAAAGAAAGAGAGAGAGAGAGAG... | pathogenic | 32,659 |
A genetic variant on chromosome 2, position 43982452, affects the gene LRPPRC (leucine rich pentatricopeptide repeat containing). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TTAGCTGGGCGAGATGGCGCATGCCTGTAATTCTAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCGGTGAGCCGACATTGCACCACTGCACTCCAGCCTAGACAACAAGATCAAGACTCTGTTTCAAAAAAAAAAAAAAAAAGAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAATACTGTAAAGCAGTGTAATTAACATCTATGAATAGAAAAGTTAGGTTCATAATCAGCTACAATATAAGCTTCCCTCTCCCTATATCTGTAAGCTTTATCTACATATCCCTGAA... | TTAGCTGGGCGAGATGGCGCATGCCTGTAATTCTAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGTGGAGGCTGCGGTGAGCCGACATTGCACCACTGCACTCCAGCCTAGACAACAAGATCAAGACTCTGTTTCAAAAAAAAAAAAAAAAAGAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAATACTGTAAAGCAGTGTAATTAACATCTATGAATAGAAAAGTTAGGTTCATAATCAGCTACAATATAAGCTTCCCTCTCCCTATATCTGTAAGCTTTATCTACATATCCCTGAA... | benign | 32,663 |
Evaluate the clinical significance of the mutation at chromosome 2, position 43995824 in gene LRPPRC (leucine rich pentatricopeptide repeat containing): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type'] | GACAAGTGAGGTGTGCCACGAATAAATCTACAGTGGGACCGGCATGTTTTGGATTGAGTGTTGAGGTAAGGCTTCCCTGAAGAGACATTTGAGATCTGAATGATAAGAAAGCAACTTTACAAAGATAAGGGGGAAAGGCCTTTACAGATAATGAAACTGAGGAACAGACAGGTTAGTAAGATGGCTGAGATTACGCAGTAAGTAAACAGAACCCAGGTCTGATGAACACCGAGACCACCCTTTCTACTAAACTATGTTCTCTCTTTATTCAGTTCTCCTCAAATGCAACAGTGAAGATAAAAGAAAATGTGGACCTTCCC... | GACAAGTGAGGTGTGCCACGAATAAATCTACAGTGGGACCGGCATGTTTTGGATTGAGTGTTGAGGTAAGGCTTCCCTGAAGAGACATTTGAGATCTGAATGATAAGAAAGCAACTTTACAAAGATAAGGGGGAAAGGCCTTTACAGATAATGAAACTGAGGAACAGACAGGTTAGTAAGATGGCTGAGATTACGCAGTAAGTAAACAGAACCCAGGTCTGATGAACACCGAGACCACCCTTTCTACTAAACTATGTTCTCTCTTTATTCAGTTCTCCTCAAATGCAACAGTGAAGATAAAAGAAAATGTGGACCTTCCC... | pathogenic | 32,670 |
Does the genetic variant at chromosome 2, position 44275695, impacting gene SLC3A1 (solute carrier family 3 member 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cystinuria'] | TTTTTCTTATACCTGGCTAAATAGAGAAAGCTTTAAGCTTTAAAAAAAGTTGTGGTAAAACATCTGTAACATTTCAGTGGCATTACGTATGTTTATACTGTTATGCAACCATCACCACTATCATCTCAGGAATACTTTTCATCATCCCAAACTGAAATTCTCTGCCCAATGAACAATAACTCCCCATTATTCCCTTCCTCCAACCTCCAGTAACCACGTTTCTATTTTCTGTTCCTATGAATCCTACTACTCAAGATACCTCATCTAAGTGAAATCACACTTGCCCTTTTGGGTCTGGCTTATTGCACTTAGCATAATGT... | TTTTTCTTATACCTGGCTAAATAGAGAAAGCTTTAAGCTTTAAAAAAAGTTGTGGTAAAACATCTGTAACATTTCAGTGGCATTACGTATGTTTATACTGTTATGCAACCATCACCACTATCATCTCAGGAATACTTTTCATCATCCCAAACTGAAATTCTCTGCCCAATGAACAATAACTCCCCATTATTCCCTTCCTCCAACCTCCAGTAACCACGTTTCTATTTTCTGTTCCTATGAATCCTACTACTCAAGATACCTCATCTAAGTGAAATCACACTTGCCCTTTTGGGTCTGGCTTATTGCACTTAGCATAATGT... | pathogenic | 32,678 |
Gene mutation in SLC3A1 (solute carrier family 3 member 1) at chromosome 2, position 44280876—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cystinuria', 'Nephrocalcinosis', 'Nephrolithiasis'] | GTCCAAATTTAGCAAGTTCAAAGGCAGTCTGAGAGTGGAAACAAAGACTCCTCAAATATTGGCACAAACTTACCTTCTGTGTTGAGGTTGCACTCCTTCTCAGACCCCGTGCACTGACAACATTTATCACCTTTTTAAATTAATTGATGCATTTACTTATTTATTTATATTTATTATTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAATCTCACCTCACTACAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAATGC... | GTCCAAATTTAGCAAGTTCAAAGGCAGTCTGAGAGTGGAAACAAAGACTCCTCAAATATTGGCACAAACTTACCTTCTGTGTTGAGGTTGCACTCCTTCTCAGACCCCGTGCACTGACAACATTTATCACCTTTTTAAATTAATTGATGCATTTACTTATTTATTTATATTTATTATTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAATCTCACCTCACTACAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGAATGC... | pathogenic | 32,681 |
Mutation at chromosome 2, position 44301128, within SLC3A1 (solute carrier family 3 member 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CCAGGCTGGAGTGCAATGGCCCAATCTCGGCTCACCACAACTTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTATGGGCACCCGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTGTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCATTTCATCTTTTATTATCTGAGTGTATTCAAGACAACACTAGTATCTGAGTTTTACCACA... | CCAGGCTGGAGTGCAATGGCCCAATCTCGGCTCACCACAACTTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTATGGGCACCCGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTGTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCATTTCATCTTTTATTATCTGAGTGTATTCAAGACAACACTAGTATCTGAGTTTTACCACA... | benign | 32,698 |
Is the genetic variant on chromosome 2, position 44304311, gene SLC3A1 (solute carrier family 3 member 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cystinuria'] | CATCAATAAAAAAGTGATAGCAATAACCTCTATAAGGCTGTTGTGAGATTAAATTAGATAATGTATATAAAGTAGTGCCTGGATCATAGTAAACACTCAATAAAATTACCCATCATTAAGTTTACATAGATCACTCAACAGAATCAATAGGAAGGAATTAAAGAAATTTCATCTCCTTAAAGTAGGTACTCCGATTACTCTGTCTCCATTTTATAGACAAGGAAACTGAGGCTCTGAGCATGTAAGTAATGTCCACAGGTAGGAGTGGCAGCTATGGGATTTGAACTGAAGCAGTTGGGCTCCAGAGACCATGCACTTAT... | CATCAATAAAAAAGTGATAGCAATAACCTCTATAAGGCTGTTGTGAGATTAAATTAGATAATGTATATAAAGTAGTGCCTGGATCATAGTAAACACTCAATAAAATTACCCATCATTAAGTTTACATAGATCACTCAACAGAATCAATAGGAAGGAATTAAAGAAATTTCATCTCCTTAAAGTAGGTACTCCGATTACTCTGTCTCCATTTTATAGACAAGGAAACTGAGGCTCTGAGCATGTAAGTAATGTCCACAGGTAGGAGTGGCAGCTATGGGATTTGAACTGAAGCAGTTGGGCTCCAGAGACCATGCACTTAT... | pathogenic | 32,703 |
Is the genetic mutation found on chromosome 2 at position 44313933, within the gene SLC3A1 (solute carrier family 3 member 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cystinuria'] | CTAGCACTGTTGTGTGAAGGAGGGAAATATAGGTGTGAAAGTACTTTTTAAAAAGTAAAGTGCCATGCTCAGCGTATGCACATGAGGGTTTGAGTTGTGGGTTATGGAGAGAGTTGTCAGGTGATTTAAATAAATTCTTATTTAAACAAACTTATTTAAATAAGGGCTAGAATATACCTAGAACGTTTAACATGGAAATATATTTACAAATAGAAAACACTTTATAAAATTTCATCTTGGAGTATGTAAATTCTTTCTAAAAGTTGATTTACTTTAAAAATTTTGTCTGAATAATTCATAAGTCAAAACAATTTTTTAAA... | CTAGCACTGTTGTGTGAAGGAGGGAAATATAGGTGTGAAAGTACTTTTTAAAAAGTAAAGTGCCATGCTCAGCGTATGCACATGAGGGTTTGAGTTGTGGGTTATGGAGAGAGTTGTCAGGTGATTTAAATAAATTCTTATTTAAACAAACTTATTTAAATAAGGGCTAGAATATACCTAGAACGTTTAACATGGAAATATATTTACAAATAGAAAACACTTTATAAAATTTCATCTTGGAGTATGTAAATTCTTTCTAAAAGTTGATTTACTTTAAAAATTTTGTCTGAATAATTCATAAGTCAAAACAATTTTTTAAA... | pathogenic | 32,713 |
Does the genetic variant at chromosome 2, position 44313951, impacting gene SLC3A1 (solute carrier family 3 member 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cystinuria'] | GGAGGGAAATATAGGTGTGAAAGTACTTTTTAAAAAGTAAAGTGCCATGCTCAGCGTATGCACATGAGGGTTTGAGTTGTGGGTTATGGAGAGAGTTGTCAGGTGATTTAAATAAATTCTTATTTAAACAAACTTATTTAAATAAGGGCTAGAATATACCTAGAACGTTTAACATGGAAATATATTTACAAATAGAAAACACTTTATAAAATTTCATCTTGGAGTATGTAAATTCTTTCTAAAAGTTGATTTACTTTAAAAATTTTGTCTGAATAATTCATAAGTCAAAACAATTTTTTAAAAGAGGACACATCAGAAGT... | GGAGGGAAATATAGGTGTGAAAGTACTTTTTAAAAAGTAAAGTGCCATGCTCAGCGTATGCACATGAGGGTTTGAGTTGTGGGTTATGGAGAGAGTTGTCAGGTGATTTAAATAAATTCTTATTTAAACAAACTTATTTAAATAAGGGCTAGAATATACCTAGAACGTTTAACATGGAAATATATTTACAAATAGAAAACACTTTATAAAATTTCATCTTGGAGTATGTAAATTCTTTCTAAAAGTTGATTTACTTTAAAAATTTTGTCTGAATAATTCATAAGTCAAAACAATTTTTTAAAAGAGGACACATCAGAAGT... | pathogenic | 32,714 |
Determine whether the variant at chromosome 2, position 44320279, in gene SLC3A1 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cystinuria'] | CAGGTGCACGTCATTATGCCCGGGTAATTTCTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCTGGTGATCTGTCTGCCTTGCCTCCCAAAGTGCTAGGATTACGGGCCTGAGCCACCTTGCCTGGCCTGCAAAATTTGTTTTTAATAGAAGACACAAGAAATGATTTAAATATTTTATCAACAGAAAACCAGTTCTATCAACTATGGGCCCAGTATGCAGCTTTTAAAAATGACAGTTCTATATACATTGATATGAGACCATTTCAAACAGGTATTCAATAAAGTAT... | CAGGTGCACGTCATTATGCCCGGGTAATTTCTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCTGGTGATCTGTCTGCCTTGCCTCCCAAAGTGCTAGGATTACGGGCCTGAGCCACCTTGCCTGGCCTGCAAAATTTGTTTTTAATAGAAGACACAAGAAATGATTTAAATATTTTATCAACAGAAAACCAGTTCTATCAACTATGGGCCCAGTATGCAGCTTTTAAAAATGACAGTTCTATATACATTGATATGAGACCATTTCAAACAGGTATTCAATAAAGTAT... | pathogenic | 32,720 |
Evaluate this variant at chromosome 2, position 44320329, gene SLC3A1: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cystinuria', 'SLC3A1-related_disorder'] | GGTGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCTGGTGATCTGTCTGCCTTGCCTCCCAAAGTGCTAGGATTACGGGCCTGAGCCACCTTGCCTGGCCTGCAAAATTTGTTTTTAATAGAAGACACAAGAAATGATTTAAATATTTTATCAACAGAAAACCAGTTCTATCAACTATGGGCCCAGTATGCAGCTTTTAAAAATGACAGTTCTATATACATTGATATGAGACCATTTCAAACAGGTATTCAATAAAGTATAGAATGGTAACATATCACCAACTGTGTAAAGAAAAATATATAAACATATG... | GGTGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCTGGTGATCTGTCTGCCTTGCCTCCCAAAGTGCTAGGATTACGGGCCTGAGCCACCTTGCCTGGCCTGCAAAATTTGTTTTTAATAGAAGACACAAGAAATGATTTAAATATTTTATCAACAGAAAACCAGTTCTATCAACTATGGGCCCAGTATGCAGCTTTTAAAAATGACAGTTCTATATACATTGATATGAGACCATTTCAAACAGGTATTCAATAAAGTATAGAATGGTAACATATCACCAACTGTGTAAAGAAAAATATATAAACATATG... | pathogenic | 32,721 |
Variant at chromosome 2, position 44320600, gene SLC3A1: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cystinuria'] | GAATGGTAACATATCACCAACTGTGTAAAGAAAAATATATAAACATATGAAATGATACATTCTGTGCCTATGCAAACATATGATACATTAAAAACAAAAGAACATATAGTGCCTGTCTCTGAGGGGAACTGTGAAGCTATGGAAAGGTGTTGAAGAAAACCTTTTTATAGTATGTATTCTTGTAATTGAATAAAAAATAAAATTACAAAAATCAGGCTTGGAAGTATTTAATAGCAGACAAAATATAGTTCAATATGAAAAGCATTATATGAGACAAAGGCAATTTTCAAAAATTGATAAAACATTCCACCAAAAATCAT... | GAATGGTAACATATCACCAACTGTGTAAAGAAAAATATATAAACATATGAAATGATACATTCTGTGCCTATGCAAACATATGATACATTAAAAACAAAAGAACATATAGTGCCTGTCTCTGAGGGGAACTGTGAAGCTATGGAAAGGTGTTGAAGAAAACCTTTTTATAGTATGTATTCTTGTAATTGAATAAAAAATAAAATTACAAAAATCAGGCTTGGAAGTATTTAATAGCAGACAAAATATAGTTCAATATGAAAAGCATTATATGAGACAAAGGCAATTTTCAAAAATTGATAAAACATTCCACCAAAAATCAT... | pathogenic | 32,724 |
Evaluate this variant at chromosome 2, position 44332526, gene PREPL (prolyl endopeptidase like): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Myasthenic_syndrome,_congenital,_22'] | AATACACTAAGTGGGTAACAATGATTATTTCTAAGAGGTGCAGCAAGCAAATGGTACTGAGAAGTAGTCATTTAAGATTTGTTCTGTATTTTTGCATCTGTTCAACAAGCATGTATTGCTTTTGTAATATAAAAATATTAATATTTACTTAAAGATTGTCAGAGAAAAATAAATGAATTAAAGAAAAAAATTCCTAAGAATAAAAGGCTTGTGTTGTAATTCATTGTGTCAGCACATGTGAAATTATCTGATATATGATATGCTAAAGTCTGAGGTTTCCTTAAATTCAAGGCTATAGTTTACATATTAATTTGTTCCCT... | AATACACTAAGTGGGTAACAATGATTATTTCTAAGAGGTGCAGCAAGCAAATGGTACTGAGAAGTAGTCATTTAAGATTTGTTCTGTATTTTTGCATCTGTTCAACAAGCATGTATTGCTTTTGTAATATAAAAATATTAATATTTACTTAAAGATTGTCAGAGAAAAATAAATGAATTAAAGAAAAAAATTCCTAAGAATAAAAGGCTTGTGTTGTAATTCATTGTGTCAGCACATGTGAAATTATCTGATATATGATATGCTAAAGTCTGAGGTTTCCTTAAATTCAAGGCTATAGTTTACATATTAATTTGTTCCCT... | pathogenic | 32,747 |
A genetic variant on chromosome 2, position 44332563, affects the gene PREPL (prolyl endopeptidase like). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Myasthenic_syndrome,_congenital,_22'] | GTGCAGCAAGCAAATGGTACTGAGAAGTAGTCATTTAAGATTTGTTCTGTATTTTTGCATCTGTTCAACAAGCATGTATTGCTTTTGTAATATAAAAATATTAATATTTACTTAAAGATTGTCAGAGAAAAATAAATGAATTAAAGAAAAAAATTCCTAAGAATAAAAGGCTTGTGTTGTAATTCATTGTGTCAGCACATGTGAAATTATCTGATATATGATATGCTAAAGTCTGAGGTTTCCTTAAATTCAAGGCTATAGTTTACATATTAATTTGTTCCCTACTTGCATAAATTTGTATATTCTGTATATTGAGTATA... | GTGCAGCAAGCAAATGGTACTGAGAAGTAGTCATTTAAGATTTGTTCTGTATTTTTGCATCTGTTCAACAAGCATGTATTGCTTTTGTAATATAAAAATATTAATATTTACTTAAAGATTGTCAGAGAAAAATAAATGAATTAAAGAAAAAAATTCCTAAGAATAAAAGGCTTGTGTTGTAATTCATTGTGTCAGCACATGTGAAATTATCTGATATATGATATGCTAAAGTCTGAGGTTTCCTTAAATTCAAGGCTATAGTTTACATATTAATTTGTTCCCTACTTGCATAAATTTGTATATTCTGTATATTGAGTATA... | pathogenic | 32,748 |
Chromosome 2, position 44339365, gene PREPL (prolyl endopeptidase like): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCCCACAGCACATTTTATGTTTTTGATACTACTTATTCAAATCCATGATACACTTAACCTTTATGTACTAGTTTAATCTTGTGATTAACTATATCTTCCTTAAGGCTAGGATATTCTGCTTTAACAGCTTTCGATTCTATAATGCCCGATACAGTATTGTGCACATGAAAGTTCAATAAAAAGCCACTGAATTGACTGAAATTGCATTTTTACAGGAGTTTTAAGAATATTGGAGTTAGGGAGGTATAAATGGTCTATGCTGTTTGCTCATCAACTGGCTCAGTAACTCTTTTCATATCAAACAAAATGGAAGCCATCCT... | CCCCACAGCACATTTTATGTTTTTGATACTACTTATTCAAATCCATGATACACTTAACCTTTATGTACTAGTTTAATCTTGTGATTAACTATATCTTCCTTAAGGCTAGGATATTCTGCTTTAACAGCTTTCGATTCTATAATGCCCGATACAGTATTGTGCACATGAAAGTTCAATAAAAAGCCACTGAATTGACTGAAATTGCATTTTTACAGGAGTTTTAAGAATATTGGAGTTAGGGAGGTATAAATGGTCTATGCTGTTTGCTCATCAACTGGCTCAGTAACTCTTTTCATATCAAACAAAATGGAAGCCATCCT... | benign | 32,754 |
Variant at chromosome position 44342561, chromosome 2, gene PREPL (prolyl endopeptidase like): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CTTCTGTATTGGATCACATTACCATGTTTATTTGTCAATCGTTATTTCTTTTGTGAAATGTGTGTCTATTTTAAACTTTGAATGTAGCTTAAATTATTAGTATGTAAATAGCTCTTTAAAAATTAAGAATATTGGCTGGGCACAGTGGCTCACAACTGTAATCCCAGCACTCTGGGAGGCCAAAGCTGGCAGATCACCTGAGATCAGGAGTTCAAGACCACCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGG... | CTTCTGTATTGGATCACATTACCATGTTTATTTGTCAATCGTTATTTCTTTTGTGAAATGTGTGTCTATTTTAAACTTTGAATGTAGCTTAAATTATTAGTATGTAAATAGCTCTTTAAAAATTAAGAATATTGGCTGGGCACAGTGGCTCACAACTGTAATCCCAGCACTCTGGGAGGCCAAAGCTGGCAGATCACCTGAGATCAGGAGTTCAAGACCACCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGG... | benign | 32,756 |
Is the genetic variant on chromosome 2, position 44343926, gene PREPL (prolyl endopeptidase like), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Myasthenic_syndrome,_congenital,_22', 'PREPL-related_disorder'] | AGTTAGTTTTAATTTATAATTTAGTAGCAACACATACTTTAAATTCTTCTATATATTACTAAGAATTTAATGGTTAAAAGGTACTCAACAATCATCAGGAACAAGGGGTTTTAGTTTGAAAGAGAGATACCTATCTAAGTATATACCATTTATTTAAGCAATAGATACTGACTAAATAGCACTATACAAACCTGGCACCCTGCTTATCAATTAAGATGCAAAGGTGAAACAGACTCAGTCTGTTCACAATCTAGCAGTTCTAGGTCATCTTTATGAATTTACATGAATGAACTATGTTGTAATTCACAAAATCAATTTCA... | AGTTAGTTTTAATTTATAATTTAGTAGCAACACATACTTTAAATTCTTCTATATATTACTAAGAATTTAATGGTTAAAAGGTACTCAACAATCATCAGGAACAAGGGGTTTTAGTTTGAAAGAGAGATACCTATCTAAGTATATACCATTTATTTAAGCAATAGATACTGACTAAATAGCACTATACAAACCTGGCACCCTGCTTATCAATTAAGATGCAAAGGTGAAACAGACTCAGTCTGTTCACAATCTAGCAGTTCTAGGTCATCTTTATGAATTTACATGAATGAACTATGTTGTAATTCACAAAATCAATTTCA... | pathogenic | 32,760 |
Classify the chromosome 2 variant at position 44346383 affecting gene PREPL (prolyl endopeptidase like) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Myasthenic_syndrome,_congenital,_22'] | TGCCAAAGCTTCTGAGTCTAACTATATCTTACACAAACCCAGATATTAAAAACTAGTCATTAAAAAAAAATTCAGAAATAATCTTTAAAAAAATCTTTTCTCTATCTTTGAGAAATTAATAAATTTCCTATAAAAAATATGAAATCTGAAAATTAGAGCACGTAAAAAGAAAAATTGTGGTGTACCTTCTTCATCTTTGGAACGAACCAAGCAACAACCTTCTTGGTAATAAACAAAACCACCATGTTTAACCTGACAAAAGAAACATGCAGTTTACTTAATAATAATTTAATTAACCTTTTCATAGTCTGACTATTCAA... | TGCCAAAGCTTCTGAGTCTAACTATATCTTACACAAACCCAGATATTAAAAACTAGTCATTAAAAAAAAATTCAGAAATAATCTTTAAAAAAATCTTTTCTCTATCTTTGAGAAATTAATAAATTTCCTATAAAAAATATGAAATCTGAAAATTAGAGCACGTAAAAAGAAAAATTGTGGTGTACCTTCTTCATCTTTGGAACGAACCAAGCAACAACCTTCTTGGTAATAAACAAAACCACCATGTTTAACCTGACAAAAGAAACATGCAGTTTACTTAATAATAATTTAATTAACCTTTTCATAGTCTGACTATTCAA... | pathogenic | 32,765 |
Is the variant located on chromosome 2 at position 44942123, gene SIX3 (SIX homeobox 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Holoprosencephaly_2'] | TCGGAATGCAGAAAAGATCTTTAAAAAAAAAAAAAAAAAGTTTTGAATTCCTCAATGATTTTTCTTCTGGAAAGGCAGCTTAGGATAATTATTTCAGCTTTATTGAGGGCAGATTAGTTGAAGTCTGGGCGCTGCGTTTCAATACGCGTTGTACACGGGCCGACAATGTGGTCATTGTTGGCTACTGTGTGTGAATCCATTCAACATATACACTTTTTAACACCAAACCGAGTCCTGTCTAAATATACACAGTGCTCAGGGAAAGACGTCTCTGACCCCGACAAATCTGCGTAAATCACACTTCCATAGTTACAGAAGCC... | TCGGAATGCAGAAAAGATCTTTAAAAAAAAAAAAAAAAAGTTTTGAATTCCTCAATGATTTTTCTTCTGGAAAGGCAGCTTAGGATAATTATTTCAGCTTTATTGAGGGCAGATTAGTTGAAGTCTGGGCGCTGCGTTTCAATACGCGTTGTACACGGGCCGACAATGTGGTCATTGTTGGCTACTGTGTGTGAATCCATTCAACATATACACTTTTTAACACCAAACCGAGTCCTGTCTAAATATACACAGTGCTCAGGGAAAGACGTCTCTGACCCCGACAAATCTGCGTAAATCACACTTCCATAGTTACAGAAGCC... | pathogenic | 32,775 |
Variant in gene SIX3 (SIX homeobox 3), located at chromosome 2 position 44942499: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Holoprosencephaly_2'] | CTAAGAATAAATACCCATGCCTGGCCTAGGGGCTGTGGTGGCCAGAGGCAGAGAGGGCCCTCTGTGTTCTATGGGCCTTTTGGCGTCTGTTTTAGGCTTTCGATGTTACTTTCCCTAGAGAAATTAGACAGTTTAAAAATAATAATGGTAATTATTATTATTTTACAATACGAGCAAACAAGCAATTTTCAGGCCTTATTCACTTCATCCGGGTGGCTGGCCTCCAAAGTTTGAGTGCCCTCTGGGGCTGGCAGGCAGGACCAGAGCTCCTTCTGTTGTGTGGTGAGGAGTGGGCATCTGTAGGACTTTTCTGGGTCCAG... | CTAAGAATAAATACCCATGCCTGGCCTAGGGGCTGTGGTGGCCAGAGGCAGAGAGGGCCCTCTGTGTTCTATGGGCCTTTTGGCGTCTGTTTTAGGCTTTCGATGTTACTTTCCCTAGAGAAATTAGACAGTTTAAAAATAATAATGGTAATTATTATTATTTTACAATACGAGCAAACAAGCAATTTTCAGGCCTTATTCACTTCATCCGGGTGGCTGGCCTCCAAAGTTTGAGTGCCCTCTGGGGCTGGCAGGCAGGACCAGAGCTCCTTCTGTTGTGTGGTGAGGAGTGGGCATCTGTAGGACTTTTCTGGGTCCAG... | pathogenic | 32,783 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.