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 found on chromosome 19 at position 1222965 in gene STK11 (serine/threonine kinase 11): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GCCCGTCAGGGATCTTCACAGAGTGGCACGGCCGACCCTCCTCCCAGAGCCCCACAGGGAAGCTGGGCGGGTGACAGCAGCTCCAGGCCCCTTCCCCGGGTGGGTCCAGAGGACACTCCCCTCCTACCCCGTAGCCTCCACTAGTGGAAGGTGGTGAAGACAGAGGTGTCCTTGAGTCCACAGGGCCTCTGGTCCAGCAGCCACGGGACGCCTCTGTCCCTGGGGTAGAGCTGGGGCTCCTAGGGCGTCAACCACCTTGACTGACCACGCCTTTCTTCCCTCCCCTCGAAATGAAGCTACAACATCACCACGGGTCTGTA... | GCCCGTCAGGGATCTTCACAGAGTGGCACGGCCGACCCTCCTCCCAGAGCCCCACAGGGAAGCTGGGCGGGTGACAGCAGCTCCAGGCCCCTTCCCCGGGTGGGTCCAGAGGACACTCCCCTCCTACCCCGTAGCCTCCACTAGTGGAAGGTGGTGAAGACAGAGGTGTCCTTGAGTCCACAGGGCCTCTGGTCCAGCAGCCACGGGACGCCTCTGTCCCTGGGGTAGAGCTGGGGCTCCTAGGGCGTCAACCACCTTGACTGACCACGCCTTTCTTCCCTCCCCTCGAAATGAAGCTACAACATCACCACGGGTCTGTA... | benign | 293,094 |
Located at chromosome 19 position 1222975, the variant affecting gene STK11 (serine/threonine kinase 11)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GATCTTCACAGAGTGGCACGGCCGACCCTCCTCCCAGAGCCCCACAGGGAAGCTGGGCGGGTGACAGCAGCTCCAGGCCCCTTCCCCGGGTGGGTCCAGAGGACACTCCCCTCCTACCCCGTAGCCTCCACTAGTGGAAGGTGGTGAAGACAGAGGTGTCCTTGAGTCCACAGGGCCTCTGGTCCAGCAGCCACGGGACGCCTCTGTCCCTGGGGTAGAGCTGGGGCTCCTAGGGCGTCAACCACCTTGACTGACCACGCCTTTCTTCCCTCCCCTCGAAATGAAGCTACAACATCACCACGGGTCTGTACCCCTTCGAA... | GATCTTCACAGAGTGGCACGGCCGACCCTCCTCCCAGAGCCCCACAGGGAAGCTGGGCGGGTGACAGCAGCTCCAGGCCCCTTCCCCGGGTGGGTCCAGAGGACACTCCCCTCCTACCCCGTAGCCTCCACTAGTGGAAGGTGGTGAAGACAGAGGTGTCCTTGAGTCCACAGGGCCTCTGGTCCAGCAGCCACGGGACGCCTCTGTCCCTGGGGTAGAGCTGGGGCTCCTAGGGCGTCAACCACCTTGACTGACCACGCCTTTCTTCCCTCCCCTCGAAATGAAGCTACAACATCACCACGGGTCTGTACCCCTTCGAA... | benign | 293,097 |
Gene mutation in STK11 at chromosome 19, position 1223071—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Peutz-Jeghers_syndrome'] | CAGAGGACACTCCCCTCCTACCCCGTAGCCTCCACTAGTGGAAGGTGGTGAAGACAGAGGTGTCCTTGAGTCCACAGGGCCTCTGGTCCAGCAGCCACGGGACGCCTCTGTCCCTGGGGTAGAGCTGGGGCTCCTAGGGCGTCAACCACCTTGACTGACCACGCCTTTCTTCCCTCCCCTCGAAATGAAGCTACAACATCACCACGGGTCTGTACCCCTTCGAAGGGGACAACATCTACAAGTTGTTTGAGAACATCGGGAAGGGGAGCTACGCCATCCCGGGCGACTGTGGCCCCCCGCTCTCTGACCTGCTGAAAGGT... | CAGAGGACACTCCCCTCCTACCCCGTAGCCTCCACTAGTGGAAGGTGGTGAAGACAGAGGTGTCCTTGAGTCCACAGGGCCTCTGGTCCAGCAGCCACGGGACGCCTCTGTCCCTGGGGTAGAGCTGGGGCTCCTAGGGCGTCAACCACCTTGACTGACCACGCCTTTCTTCCCTCCCCTCGAAATGAAGCTACAACATCACCACGGGTCTGTACCCCTTCGAAGGGGACAACATCTACAAGTTGTTTGAGAACATCGGGAAGGGGAGCTACGCCATCCCGGGCGACTGTGGCCCCCCGCTCTCTGACCTGCTGAAAGGT... | pathogenic | 293,122 |
Considering the variant on chromosome 19, location 1390971, involving gene NDUFS7 (NADH:ubiquinone oxidoreductase core subunit S7), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_3'] | CAACTGGGCCCGCCGGGTGAGTACTATGAGCTGTAGGCCCTCCTCGAGCGCCAGGGCCTCTCTGCACACTCACAGGCACACACATACACACACCAACGTGCAGACACGTACACACACAACACATGCATGCACACTCACATGCGCACATGTGCATGCAAGCTCACATGTATGGACAGATGTGTACACGGACCACACGCACACTCACGCACACAATGCACATATGCACACTCGCACACATGCACACTTGCACACACATGCACACACAAGCACATGTGCACACACGCTTGCACACATACACACATGCACACTTGCACTCATGC... | CAACTGGGCCCGCCGGGTGAGTACTATGAGCTGTAGGCCCTCCTCGAGCGCCAGGGCCTCTCTGCACACTCACAGGCACACACATACACACACCAACGTGCAGACACGTACACACACAACACATGCATGCACACTCACATGCGCACATGTGCATGCAAGCTCACATGTATGGACAGATGTGTACACGGACCACACGCACACTCACGCACACAATGCACATATGCACACTCGCACACATGCACACTTGCACACACATGCACACACAAGCACATGTGCACACACGCTTGCACACATACACACATGCACACTTGCACTCATGC... | pathogenic | 293,277 |
Is the variant located on chromosome 19 at position 1390981, gene NDUFS7 (NADH:ubiquinone oxidoreductase core subunit S7), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_3'] | CGCCGGGTGAGTACTATGAGCTGTAGGCCCTCCTCGAGCGCCAGGGCCTCTCTGCACACTCACAGGCACACACATACACACACCAACGTGCAGACACGTACACACACAACACATGCATGCACACTCACATGCGCACATGTGCATGCAAGCTCACATGTATGGACAGATGTGTACACGGACCACACGCACACTCACGCACACAATGCACATATGCACACTCGCACACATGCACACTTGCACACACATGCACACACAAGCACATGTGCACACACGCTTGCACACATACACACATGCACACTTGCACTCATGCACACTCATGC... | CGCCGGGTGAGTACTATGAGCTGTAGGCCCTCCTCGAGCGCCAGGGCCTCTCTGCACACTCACAGGCACACACATACACACACCAACGTGCAGACACGTACACACACAACACATGCATGCACACTCACATGCGCACATGTGCATGCAAGCTCACATGTATGGACAGATGTGTACACGGACCACACGCACACTCACGCACACAATGCACATATGCACACTCGCACACATGCACACTTGCACACACATGCACACACAAGCACATGTGCACACACGCTTGCACACATACACACATGCACACTTGCACTCATGCACACTCATGC... | pathogenic | 293,278 |
Variant in NDUFS7 (NADH:ubiquinone oxidoreductase core subunit S7), chromosome 19, position 1391178—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ACACAATGCACATATGCACACTCGCACACATGCACACTTGCACACACATGCACACACAAGCACATGTGCACACACGCTTGCACACATACACACATGCACACTTGCACTCATGCACACTCATGCGCACATATACACATGCACACGCACACTCGCACACACGTGCACATATATGCACAGTCATGCACACACATGCACACTCACACACATGCACACACGTCCTTGTGTGGACACATGCATGTGTGCCTGTTGGCATGCATGCACACAGGCACACTCACTGATGCACACACACCCCTGCGGCCGTGGAGCAGGGCGGACCCTCC... | ACACAATGCACATATGCACACTCGCACACATGCACACTTGCACACACATGCACACACAAGCACATGTGCACACACGCTTGCACACATACACACATGCACACTTGCACTCATGCACACTCATGCGCACATATACACATGCACACGCACACTCGCACACACGTGCACATATATGCACAGTCATGCACACACATGCACACTCACACACATGCACACACGTCCTTGTGTGGACACATGCATGTGTGCCTGTTGGCATGCATGCACACAGGCACACTCACTGATGCACACACACCCCTGCGGCCGTGGAGCAGGGCGGACCCTCC... | benign | 293,285 |
Does the genetic variant at chromosome 19, position 1397459, impacting gene GAMT (guanidinoacetate N-methyltransferase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Deficiency_of_guanidinoacetate_methyltransferase'] | GCCCTGCTCTACGGCATCCTGCAGCTGCAGAGGAAGATCAAGCGGGAGCGGAGGCTGCAGATCTGGTACCGCAGGTAGCGCCGCCGCCGCCGCCGCCGGAGCCTGTCGCCGTCCTGTCCCCAGCCTGCTTGTGTCCCGTGAGGTTGTCAATAAACCTGCCCTCGGGCTGCCGCCTCCCAGTGTGGTGTGTGGGTGAAAGGAGCCGGGGACGTGGGGGGATCACAGACCCCCTGCGGCGTGCCGCCCTTGGGCTGGGGGCGGTTGGAGCAGAGCCGGGGGCAGAGACGGGCACTGTGCCTGCCAGCAGGGTCCTTTCCCGC... | GCCCTGCTCTACGGCATCCTGCAGCTGCAGAGGAAGATCAAGCGGGAGCGGAGGCTGCAGATCTGGTACCGCAGGTAGCGCCGCCGCCGCCGCCGCCGGAGCCTGTCGCCGTCCTGTCCCCAGCCTGCTTGTGTCCCGTGAGGTTGTCAATAAACCTGCCCTCGGGCTGCCGCCTCCCAGTGTGGTGTGTGGGTGAAAGGAGCCGGGGACGTGGGGGGATCACAGACCCCCTGCGGCGTGCCGCCCTTGGGCTGGGGGCGGTTGGAGCAGAGCCGGGGGCAGAGACGGGCACTGTGCCTGCCAGCAGGGTCCTTTCCCGC... | pathogenic | 293,311 |
The mutation in gene GAMT (guanidinoacetate N-methyltransferase) at chromosome 19, position 1397474—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Deficiency_of_guanidinoacetate_methyltransferase'] | ATCCTGCAGCTGCAGAGGAAGATCAAGCGGGAGCGGAGGCTGCAGATCTGGTACCGCAGGTAGCGCCGCCGCCGCCGCCGCCGGAGCCTGTCGCCGTCCTGTCCCCAGCCTGCTTGTGTCCCGTGAGGTTGTCAATAAACCTGCCCTCGGGCTGCCGCCTCCCAGTGTGGTGTGTGGGTGAAAGGAGCCGGGGACGTGGGGGGATCACAGACCCCCTGCGGCGTGCCGCCCTTGGGCTGGGGGCGGTTGGAGCAGAGCCGGGGGCAGAGACGGGCACTGTGCCTGCCAGCAGGGTCCTTTCCCGCTGCTCTGCGAAGACC... | ATCCTGCAGCTGCAGAGGAAGATCAAGCGGGAGCGGAGGCTGCAGATCTGGTACCGCAGGTAGCGCCGCCGCCGCCGCCGCCGGAGCCTGTCGCCGTCCTGTCCCCAGCCTGCTTGTGTCCCGTGAGGTTGTCAATAAACCTGCCCTCGGGCTGCCGCCTCCCAGTGTGGTGTGTGGGTGAAAGGAGCCGGGGACGTGGGGGGATCACAGACCCCCTGCGGCGTGCCGCCCTTGGGCTGGGGGCGGTTGGAGCAGAGCCGGGGGCAGAGACGGGCACTGTGCCTGCCAGCAGGGTCCTTTCCCGCTGCTCTGCGAAGACC... | pathogenic | 293,313 |
Does the variant on chromosome 19 at location 1398959 affecting gene GAMT (guanidinoacetate N-methyltransferase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | CATCTGAGGAAGGGACATCGGGCATCAGCTGGAGATGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCT... | CATCTGAGGAAGGGACATCGGGCATCAGCTGGAGATGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCT... | pathogenic | 293,328 |
Gene GAMT (guanidinoacetate N-methyltransferase) variant at chromosome position 1398959 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | CATCTGAGGAAGGGACATCGGGCATCAGCTGGAGATGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCT... | CATCTGAGGAAGGGACATCGGGCATCAGCTGGAGATGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCT... | pathogenic | 293,329 |
A genetic variant at chromosome 19, position 1398964, affecting gene GAMT (guanidinoacetate N-methyltransferase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase', 'Inborn_genetic_diseases'] | GAGGAAGGGACATCGGGCATCAGCTGGAGATGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAG... | GAGGAAGGGACATCGGGCATCAGCTGGAGATGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAG... | pathogenic | 293,331 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 1398994, gene GAMT (guanidinoacetate N-methyltransferase): what disease(s) if pathogenic? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase', 'Inborn_genetic_diseases'] | TGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACA... | TGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACA... | pathogenic | 293,340 |
Variant in gene GAMT (guanidinoacetate N-methyltransferase), located at chromosome 19 position 1398994: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | TGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACA... | TGTCTGCTATGGGCAAGACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACA... | pathogenic | 293,341 |
Clinical significance of chromosome 19, position 1399010, gene GAMT (guanidinoacetate N-methyltransferase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | GACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAG... | GACAGTGGGGGGGGCGGGGCGGATCCTGGGGCCGCTCAGAAACCTGGAGGGGAGTCACCCACTTTTCCTGTGTCCATGGGATGGGCGGGAGGTGAGGGAGCAGCCGCTGGAAGTAACAGTCGCACGCTCACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAG... | pathogenic | 293,345 |
Does the chromosome 19 mutation at position 1399138 within gene GAMT (guanidinoacetate N-methyltransferase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | CACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCG... | CACTGCCGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCG... | pathogenic | 293,351 |
Determine if the mutation at chromosome 19, position 1399144 in gene GAMT (guanidinoacetate N-methyltransferase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | CGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTC... | CGACTGGCCAAGCCCAGCGCCGGCGTTTACTTCACCTCAGGGACCCTGCAGTGGGCAGCAGTGACCCTCACAGAGAAGCTGGGAAAGCTGCTGGTGACACACAGCTGGGATCAGCCCTGGGCTGGTGGGACCCCTCACAGAGAAGCCGGGAAAGCTTCTGGTGACACACAGCTGGGATCAGCCCAGGGCTGGTGCGACACCCTGGACTCCCGGCCAGGAAGGCACGGAGGAGGGCATGGGTGTGGCCGGGCCGGGGTGGGGGCTCAGCCTTTGGTCACCAGGGGCGTGATCATCTGTGGGAAGGCGTAGTAGCGGCAGTC... | pathogenic | 293,352 |
Considering the variant on chromosome 19, location 1399558, involving gene GAMT (guanidinoacetate N-methyltransferase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | ATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTT... | ATGGCACCAGGTCACCTCTGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTT... | pathogenic | 293,375 |
Evaluate this variant at chromosome 19, position 1399576, gene GAMT (guanidinoacetate N-methyltransferase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | TGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAG... | TGAGGGCCATGGGGGTCACGTGCACCCTGGCGCCCACCCCTCATTGAAGAGTGTTTACAGATGGCAAGGCCCGGGTGGGCGGCTGCAGCTCCCGTGGGCACGTGGCAGGGCAGCCCTGGAAGCCCAGGTGTGAACGGGAATCTCCAGCTCCCCAGTGCGGGCAGCAGCTTCCCGGCTGTCCTGGAACCCCAGCCCCACACTCGAGCCACCCCCGGGCACCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAG... | pathogenic | 293,378 |
Variant on chromosome 19, at position 1399794, affecting GAMT (guanidinoacetate N-methyltransferase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | CCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTG... | CCTACTCCACAGTTCTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTG... | pathogenic | 293,385 |
Mutation at chromosome 19, position 1399808, within GAMT (guanidinoacetate N-methyltransferase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase', 'Inborn_genetic_diseases'] | CTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGG... | CTCCAGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGG... | pathogenic | 293,390 |
Determine if the mutation at chromosome 19, position 1399812 in gene GAMT (guanidinoacetate N-methyltransferase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | AGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACT... | AGACCTTGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACT... | pathogenic | 293,391 |
Determine whether the variant at chromosome 19, position 1399818, in gene GAMT (guanidinoacetate N-methyltransferase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | TGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATT... | TGCCAGTGTGGCGGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATT... | pathogenic | 293,392 |
Variant in GAMT (guanidinoacetate N-methyltransferase), chromosome 19, position 1399830—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | GGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTT... | GGGTGGAGCCAAAGAATCACACCAGAAAAAGAACACAGGCCACTAGTTCCCATTTTGGAAGAAAAGCTGCCCCAGGGGCCACAGGCACCCAGCCGGCTCTCACAACAGCAGCCCAGGGCAACCACATAGAGCCCTTCTCAGATAGGCCGCCTCCACCAGGCAGAGGGAACAGCGAGACAAGCACTGCTGAACCAGCAAAGACAGCCAGGTGGAGGCAGCTGGAGGGAGGGGAACACGCAGGGCTTAGGCTGAACCACAGGGCACTGGGGAGCCATGGGAGGTTGTTGAGCTGGTGAGGGACTTTGATTTCCATTTTTTTT... | pathogenic | 293,394 |
Clinical classification of chromosome 19, position 1400165, gene GAMT (guanidinoacetate N-methyltransferase): benign or pathogenic? Disease(s) if pathogenic? | benign | AGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTC... | AGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTACAACGGTGCAATCTCGGCTCACAGCAACCTCCGCCTCCCATGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAGTAGAGATGGGATTCTGCCATGTTGGCCAGGCTAGGCTCAAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTTCCGAAGTGCCGGGATCACAGGTGTGAGCCACCACGCCCAGCCTGATTTCCATTTTTTTTTTAAATTTTCTTTCTTTCTTTC... | benign | 293,413 |
Chromosome 19, position 1401331, gene GAMT: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | TGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAA... | TGCAGTGAGACGGGGCCGTGGGTAGAGGTGGGGCTCCCACACAGGCTTGAGAACCCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAA... | pathogenic | 293,423 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 1401385, gene GAMT. What disease(s) is it linked to if pathogenic? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | CCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAA... | CCCGAGATCGCCTCCAGGGCCCCTCCGTGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAA... | pathogenic | 293,429 |
Considering the variant on chromosome 19, location 1401412, involving gene GAMT, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | TGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAG... | TGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAG... | pathogenic | 293,431 |
The mutation in gene GAMT at chromosome 19, position 1401412—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | TGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAG... | TGAGCATGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAG... | pathogenic | 293,432 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 1401418, gene GAMT. What disease(s) is it linked to if pathogenic? | pathogenic; ['Deficiency_of_guanidinoacetate_methyltransferase'] | TGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGA... | TGCCCATCCCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGA... | pathogenic | 293,434 |
A genetic variant at chromosome 19, position 1401426, affecting gene GAMT—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | CCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCC... | CCCGGTGCTCCGCCATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCC... | pathogenic | 293,438 |
Chromosome 19, position 1401440, gene GAMT: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase'] | ATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAG... | ATCCCACAGCCAGGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAG... | pathogenic | 293,441 |
Considering the variant on chromosome 19, location 1401452, involving gene GAMT, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cerebral_creatine_deficiency_syndrome', 'Deficiency_of_guanidinoacetate_methyltransferase', 'GAMT-related_disorder', 'Inborn_genetic_diseases'] | GGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCC... | GGCCCACACCCACTTGGGCTCTGTCCCCCCAGTGCACATCAGAGGGACCCCCACAAGCAAAGGAGGGGCTGCATTGGAGCTGGGGAGGCCCACCCTGTGATACGTCCCCTCACCCCTCACCATCAAAGTGACCGTCAGGCAGGGTGGGTGCCACATCCTCCCACAGGCCTTTCAAGGGGATGACCTTGCAGAGGGGAAAAGAAAAAGAGAGGACAGGGTAGAGAGGTCCCCAGGATCTCCCCACCTGCAGAAAGGGAGCGGCCAGGGGGACTCCCGAGAGAGAAGACCACCTCCTCCACCTCTGACAGCCCCAGGCCCCC... | pathogenic | 293,442 |
Is the variant located on chromosome 19 at position 1621908, gene TCF3 (transcription factor 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GGGAGTGGGGACGTGAATGGGGTGCGAGGGGCGGGGTGTGAGCATGGCCTGATGCCCATGGGGAGGGATTCATGAACCACCCCGCCTGTCCAGCCTCCGGTGATGCCCAAGATGGCCATTCCGGGGCACCCCACACTGATGCAAAGCTGCTCGGCCCCGCCAGGCAGGGATGCTGGGTGCCCAGTGGGTACTGCCATTCCTATCTCTGAGCCTCAGTTTCCCCATCTACAAAATCCAACTCCCCACTCAGAGGATAAAGTGGCTCGGCAGCACACAGTAGGGGGCTCCTCCCCATGCTGCCCCACCCTGGCTGACCCACG... | GGGAGTGGGGACGTGAATGGGGTGCGAGGGGCGGGGTGTGAGCATGGCCTGATGCCCATGGGGAGGGATTCATGAACCACCCCGCCTGTCCAGCCTCCGGTGATGCCCAAGATGGCCATTCCGGGGCACCCCACACTGATGCAAAGCTGCTCGGCCCCGCCAGGCAGGGATGCTGGGTGCCCAGTGGGTACTGCCATTCCTATCTCTGAGCCTCAGTTTCCCCATCTACAAAATCCAACTCCCCACTCAGAGGATAAAGTGGCTCGGCAGCACACAGTAGGGGGCTCCTCCCCATGCTGCCCCACCCTGGCTGACCCACG... | benign | 293,555 |
Considering the variant on chromosome 19, location 2129474, involving gene AP3D1 (adaptor related protein complex 3 subunit delta 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CGTGACAGCATCCACGCAGGGACGGACCACGCACCCCCGGCGGCCTGTGAGATGGCAATACCGCCTTCCTACTGCATCTTTTCTAGAGTTTTTTTTGTTTTGTTTTTTGTCTTTTCTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGAGTGCAATGGCGCGGCCTCGGCTCACTGCGACCTCCGCCTCTCAGGTTCAAGCGGTTCTCCTGCCTCAGCCTCCCGTGCAGCTGGGATTGCAAGCGTGCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGGTAGAGACGGGGTTTCACCATGTTGCCTAGACTGGTCT... | CGTGACAGCATCCACGCAGGGACGGACCACGCACCCCCGGCGGCCTGTGAGATGGCAATACCGCCTTCCTACTGCATCTTTTCTAGAGTTTTTTTTGTTTTGTTTTTTGTCTTTTCTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGAGTGCAATGGCGCGGCCTCGGCTCACTGCGACCTCCGCCTCTCAGGTTCAAGCGGTTCTCCTGCCTCAGCCTCCCGTGCAGCTGGGATTGCAAGCGTGCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGGTAGAGACGGGGTTTCACCATGTTGCCTAGACTGGTCT... | benign | 293,683 |
Considering the variant on chromosome 19, location 3094599, involving gene GNA11 (G protein subunit alpha 11), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GAACATACAATTTCAAGTTGTGGCTCAAGAGAAGGTACCTGGCTTGGTCTGAGGAGTCAGGAGAAGTCTCCCTGAGGAGCTGACGTCTGAATTGAAACGGAGAGGATGCTCAGGGGTTGGCCAAGGAGGCCAGAGAGGGAAAAGGGTTTTCAGTAGTCAGCAAGGTGGTGGGAACACACGTTTTTATAAATTCTGGTGGCCACTTCCATTTCATCTGCAAAGTAAGGATAAAGATATGGCTGGGTGAGGTGGCTCACATCTATAATCCCAGCGCTTTGGGAGGCCGAGGAGGGCAGATCACTAGAGGCCAGGAGTTTGAG... | GAACATACAATTTCAAGTTGTGGCTCAAGAGAAGGTACCTGGCTTGGTCTGAGGAGTCAGGAGAAGTCTCCCTGAGGAGCTGACGTCTGAATTGAAACGGAGAGGATGCTCAGGGGTTGGCCAAGGAGGCCAGAGAGGGAAAAGGGTTTTCAGTAGTCAGCAAGGTGGTGGGAACACACGTTTTTATAAATTCTGGTGGCCACTTCCATTTCATCTGCAAAGTAAGGATAAAGATATGGCTGGGTGAGGTGGCTCACATCTATAATCCCAGCGCTTTGGGAGGCCGAGGAGGGCAGATCACTAGAGGCCAGGAGTTTGAG... | benign | 293,784 |
Mutation found at chromosome 19 position 3491746, gene DOHH (deoxyhypusine hydroxylase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['DOHH_related_neurodevelopmental_disorder', 'Neurodevelopmental_disorder_with_microcephaly,_cerebral_atrophy,_and_visual_impairment'] | ACAAAAAATTAGCCGGGCGTGGCAGCGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTGGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCGAAAAAAAAAAAAAAACAAAAAAAAAATTTAGCTGGGCATGATGGTGCATGCCTGTAATCCCAGTTACTTGTTAAGCTGAGGCAGGAGAAGTGCTTGAGCCTGGCAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGTAATAAGA... | ACAAAAAATTAGCCGGGCGTGGCAGCGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTGGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCGAAAAAAAAAAAAAAACAAAAAAAAAATTTAGCTGGGCATGATGGTGCATGCCTGTAATCCCAGTTACTTGTTAAGCTGAGGCAGGAGAAGTGCTTGAGCCTGGCAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGTAATAAGA... | pathogenic | 293,850 |
Does the chromosome 19 mutation at position 3589823 within gene GIPC3 (GIPC PDZ domain containing family member 3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTAGTAGAGATGAGGTTTTACCGTGTTAGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCGCGCCTGGCCGTGCCAGCTAATTTTTAATTTTTTTCTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCTGCCT... | CCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTAGTAGAGATGAGGTTTTACCGTGTTAGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCGCGCCTGGCCGTGCCAGCTAATTTTTAATTTTTTTCTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCTGCCT... | benign | 293,881 |
Clinical significance of chromosome 19, position 3770700, gene RAX2 (retina and anterior neural fold homeobox 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cone-rod_dystrophy_11', 'Retinal_dystrophy'] | CCCCGGCGGCCTCCCTGGGCAGGCGGGGGTGTGAGCGCGCCTTCTCTCGCGCTCACTGCAGGTGGTGCCAGCCGTTCCCACCCTCCTGTTGTTCCCCAAGGTTCTGAGGGTAAAAATCAAAGTTATAACAGCCACTGGCCCTGCCTGGCCTCCCCATCACCTCCCTCCTCCCCCTCCTCACTCTGCTCCAGCCGCATGGGCCTCCTCGCTATTCTTTCAATGCACGAGGCGTGGTCCTGCCCCAGGGCCTTTGCACAGCCTGTGCCTCTGCCCAGCTCCCTCCTTCCCTAGACCTTCTCCCTCCCGCCCCCGGTCTCTAC... | CCCCGGCGGCCTCCCTGGGCAGGCGGGGGTGTGAGCGCGCCTTCTCTCGCGCTCACTGCAGGTGGTGCCAGCCGTTCCCACCCTCCTGTTGTTCCCCAAGGTTCTGAGGGTAAAAATCAAAGTTATAACAGCCACTGGCCCTGCCTGGCCTCCCCATCACCTCCCTCCTCCCCCTCCTCACTCTGCTCCAGCCGCATGGGCCTCCTCGCTATTCTTTCAATGCACGAGGCGTGGTCCTGCCCCAGGGCCTTTGCACAGCCTGTGCCTCTGCCCAGCTCCCTCCTTCCCTAGACCTTCTCCCTCCCGCCCCCGGTCTCTAC... | pathogenic | 293,973 |
Benign or pathogenic: chromosome 19, position 4117403, gene MAP2K2 (mitogen-activated protein kinase kinase 2) variant? Disease(s) if pathogenic? | benign | GAGCTGCTGATACAGCAAGCATTGGGTTCATGTCCACTGCCCAGCCCATCAGGGACCACTGGAGGCTCCCCCAGAAGCCTGAGGGTCCCTGGCACACACGAGGACTGGCACTGTCTCAAGGCCCTGCTGTGGCTGTGTGAACCACACGCTTGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGA... | GAGCTGCTGATACAGCAAGCATTGGGTTCATGTCCACTGCCCAGCCCATCAGGGACCACTGGAGGCTCCCCCAGAAGCCTGAGGGTCCCTGGCACACACGAGGACTGGCACTGTCTCAAGGCCCTGCTGTGGCTGTGTGAACCACACGCTTGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGA... | benign | 294,248 |
Variant at chromosome 19, position 4123890, gene MAP2K2: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CCGATCCTGACCTTTCTAGGGTCTCCCACCCCATCGTGACCCCCTAGGACACCCCTCTCCCACATCCTGACCCTTCTGGGAGCCCCCTGTCCTCCCCTCTCTTCCCTTTTCCCTGGTTGTCTATGGACCTCCTCACCCCATCCTCTCCCCTAAGGGACCCCCCTGCCCCACCTTGGCACCCTAGGTGCCCTCTTCATCCCATGCCAACCTCATTACTCAGGGACTCATTCCCCAAAAGGACCGCTCCCCGCCCCCCCAAGACCTCTCAGCCTGTCCTCCCCACCCAGGTGCTGCACTCTCAACCTGTGGCTCAGGCACCC... | CCGATCCTGACCTTTCTAGGGTCTCCCACCCCATCGTGACCCCCTAGGACACCCCTCTCCCACATCCTGACCCTTCTGGGAGCCCCCTGTCCTCCCCTCTCTTCCCTTTTCCCTGGTTGTCTATGGACCTCCTCACCCCATCCTCTCCCCTAAGGGACCCCCCTGCCCCACCTTGGCACCCTAGGTGCCCTCTTCATCCCATGCCAACCTCATTACTCAGGGACTCATTCCCCAAAAGGACCGCTCCCCGCCCCCCCAAGACCTCTCAGCCTGTCCTCCCCACCCAGGTGCTGCACTCTCAACCTGTGGCTCAGGCACCC... | benign | 294,284 |
Does the genetic variant at chromosome 19, position 4544274, impacting gene SEMA6B (semaphorin 6B), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Epilepsy,_progressive_myoclonic,_11'] | TTTTTTTTGAGACAGCGTCTCGCTCTGTCACCCAGGCTGTAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGACTCTCAGATTCAAGCTATTCTTCTGCCTCAGTCGGCCGAGTAGCTGGAATTACAGGAACCCGCCACCAAGCCTGGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTAGTCTCGAACTCTTGACCTCAAGTGATCTGCACACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGCCTTGACTTTTGAGGGTGCCCCCACC... | TTTTTTTTGAGACAGCGTCTCGCTCTGTCACCCAGGCTGTAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGACTCTCAGATTCAAGCTATTCTTCTGCCTCAGTCGGCCGAGTAGCTGGAATTACAGGAACCCGCCACCAAGCCTGGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTAGTCTCGAACTCTTGACCTCAAGTGATCTGCACACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGCCTTGACTTTTGAGGGTGCCCCCACC... | pathogenic | 294,345 |
Is the variant located on chromosome 19 at position 4544276, gene SEMA6B (semaphorin 6B), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Epilepsy,_progressive_myoclonic,_11'] | TTTTTTGAGACAGCGTCTCGCTCTGTCACCCAGGCTGTAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGACTCTCAGATTCAAGCTATTCTTCTGCCTCAGTCGGCCGAGTAGCTGGAATTACAGGAACCCGCCACCAAGCCTGGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTAGTCTCGAACTCTTGACCTCAAGTGATCTGCACACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGCCTTGACTTTTGAGGGTGCCCCCACCCG... | TTTTTTGAGACAGCGTCTCGCTCTGTCACCCAGGCTGTAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGACTCTCAGATTCAAGCTATTCTTCTGCCTCAGTCGGCCGAGTAGCTGGAATTACAGGAACCCGCCACCAAGCCTGGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTAGTCTCGAACTCTTGACCTCAAGTGATCTGCACACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGCCTTGACTTTTGAGGGTGCCCCCACCCG... | pathogenic | 294,346 |
Clinical classification of chromosome 19, position 4548090, gene SEMA6B (semaphorin 6B): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Epilepsy,_progressive_myoclonic,_11'] | ATTACAGGCGTGAGCCACCGCGCCCGGCCCACCCCATGCCTTTCTAAAGTTCTCTGATGGAGTCCAGTTTCCCCACCCACCTCCCAGAGGATTCGAGGGTCCTCCAGCCTCCTCCCTCCCCTCCCCCATGGTAGTGGGGGATGGGGGTCTTAGCCTGCCGTCCCCCCAACTCACCTGTGCAGTCCCCTAAGCCTGAGGTGCTGGCCCCGGACACGTCCTGCTCAAAGGCGGCTCTAATGGGGAGAGGAGGCACCGTCAGCAGAGGCCCCTCTCACAGTCAGAGATCAGGGGGATCTGGGATCATGGGCGGGTCTGACACA... | ATTACAGGCGTGAGCCACCGCGCCCGGCCCACCCCATGCCTTTCTAAAGTTCTCTGATGGAGTCCAGTTTCCCCACCCACCTCCCAGAGGATTCGAGGGTCCTCCAGCCTCCTCCCTCCCCTCCCCCATGGTAGTGGGGGATGGGGGTCTTAGCCTGCCGTCCCCCCAACTCACCTGTGCAGTCCCCTAAGCCTGAGGTGCTGGCCCCGGACACGTCCTGCTCAAAGGCGGCTCTAATGGGGAGAGGAGGCACCGTCAGCAGAGGCCCCTCTCACAGTCAGAGATCAGGGGGATCTGGGATCATGGGCGGGTCTGACACA... | pathogenic | 294,350 |
The chromosome 19, position 5711908 genetic variant in gene LONP1 (lon peptidase 1, mitochondrial): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACAAGTTCGCTGCCCCTAAGGGGTCTTGCCAGTTCTAATCACATTTGTAAGTTTGGTCGCTGTCTTCCCCCTGTTGCAAGATTCTCACAGGGAATGCCCCAATGCTGAGCTGCCCAGGACAGTGTAGCCGCTGGTGGCTGTCTGAATTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAATGCAATAGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGG... | CGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACAAGTTCGCTGCCCCTAAGGGGTCTTGCCAGTTCTAATCACATTTGTAAGTTTGGTCGCTGTCTTCCCCCTGTTGCAAGATTCTCACAGGGAATGCCCCAATGCTGAGCTGCCCAGGACAGTGTAGCCGCTGGTGGCTGTCTGAATTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAATGCAATAGTGCAATCTCGGCTCACCGCAACCTCTGCCTCCCAGG... | benign | 294,494 |
The mutation impacting LONP1 (lon peptidase 1, mitochondrial) on chromosome 19 at position 5713104: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGGGGTAGTGGGGCAGGATAGAAGTGCTGACCTCAAGAACCCAGGTGGGCCTGTGGACAGGACTTTCCACCCCTGCCAGCGCCCACAGCAGACATCACCAGTTGCTCACAGCACTTCCCCCTAGGCCCTGCAGCAGCCTGGGGAAGAGGCTGATGACACCAGGCACACAGGTAAGGAGCTGACACGCTTCAGGCCTTTGGTTAGCTTCGCTGACTGTCCCTACAGCGGGAGGGCAGGTGGCACCGCCAAGAGCCTGCCCACCTCGGAAGCTGACTCCTTGTGCCACCAGGCAGGCAGGACGGCCTAGGTTGGGGGATCAG... | AGGGGTAGTGGGGCAGGATAGAAGTGCTGACCTCAAGAACCCAGGTGGGCCTGTGGACAGGACTTTCCACCCCTGCCAGCGCCCACAGCAGACATCACCAGTTGCTCACAGCACTTCCCCCTAGGCCCTGCAGCAGCCTGGGGAAGAGGCTGATGACACCAGGCACACAGGTAAGGAGCTGACACGCTTCAGGCCTTTGGTTAGCTTCGCTGACTGTCCCTACAGCGGGAGGGCAGGTGGCACCGCCAAGAGCCTGCCCACCTCGGAAGCTGACTCCTTGTGCCACCAGGCAGGCAGGACGGCCTAGGTTGGGGGATCAG... | benign | 294,497 |
Gene CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit) variant at chromosome 19, position 6361567—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TGTTGGTCAGGCTGGTCTCAAACCCCTGTCCTTAGGTGATCCACATGTCTTGGGCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCACAACACCTCGCCTGAATCTGCTGTGATTCGAAGGACTGCCCCGGGAAAAAAAAGAAAAAAACACTTCAAGTAGACTCCCATGTGGGAGGACCTGAAGACTTCTCAGACTTCCATGGTCCCTGATCTAACACAGCAATAAATCATTCAAACTGAGCACTTTTTACACATTTTTGGACCCTTTCTGAGGACTTTCTGCACAAACCTAGGAGGTAGGTTATCATTATCCCCAC... | TGTTGGTCAGGCTGGTCTCAAACCCCTGTCCTTAGGTGATCCACATGTCTTGGGCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCACAACACCTCGCCTGAATCTGCTGTGATTCGAAGGACTGCCCCGGGAAAAAAAAGAAAAAAACACTTCAAGTAGACTCCCATGTGGGAGGACCTGAAGACTTCTCAGACTTCCATGGTCCCTGATCTAACACAGCAATAAATCATTCAAACTGAGCACTTTTTACACATTTTTGGACCCTTTCTGAGGACTTTCTGCACAAACCTAGGAGGTAGGTTATCATTATCCCCAC... | benign | 294,555 |
Is chromosome 19, position 6361594, gene CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Perrault_syndrome_3'] | GTCCTTAGGTGATCCACATGTCTTGGGCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCACAACACCTCGCCTGAATCTGCTGTGATTCGAAGGACTGCCCCGGGAAAAAAAAGAAAAAAACACTTCAAGTAGACTCCCATGTGGGAGGACCTGAAGACTTCTCAGACTTCCATGGTCCCTGATCTAACACAGCAATAAATCATTCAAACTGAGCACTTTTTACACATTTTTGGACCCTTTCTGAGGACTTTCTGCACAAACCTAGGAGGTAGGTTATCATTATCCCCACTCTGCAGATGCCTCCAAAGCCCTCTAC... | GTCCTTAGGTGATCCACATGTCTTGGGCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCACAACACCTCGCCTGAATCTGCTGTGATTCGAAGGACTGCCCCGGGAAAAAAAAGAAAAAAACACTTCAAGTAGACTCCCATGTGGGAGGACCTGAAGACTTCTCAGACTTCCATGGTCCCTGATCTAACACAGCAATAAATCATTCAAACTGAGCACTTTTTACACATTTTTGGACCCTTTCTGAGGACTTTCTGCACAAACCTAGGAGGTAGGTTATCATTATCCCCACTCTGCAGATGCCTCCAAAGCCCTCTAC... | pathogenic | 294,557 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 6361834, gene CLPP. What disease(s) is it linked to if pathogenic? | benign | CTTTCTGAGGACTTTCTGCACAAACCTAGGAGGTAGGTTATCATTATCCCCACTCTGCAGATGCCTCCAAAGCCCTCTACCTACCTCCTTTATCACCTCTTCATCTCTTGGTTCAATGTGTATTTAATGAGCACCTACTGTGTGTCAGGCACTATTCTAGACTTTGGGGATGAAGCAGTGGGCACCTCTTAGATAGTGACATTGAACTGAATGATGAAAAAGAATCTGGCTTGAGAAGGTGTGGCAAAAAAGAGAAGTCCCAACATTACCAGCAATCTTCCTACTTCCACCATTTTGCCCATTCTTTTTCCTCTGCTGGA... | CTTTCTGAGGACTTTCTGCACAAACCTAGGAGGTAGGTTATCATTATCCCCACTCTGCAGATGCCTCCAAAGCCCTCTACCTACCTCCTTTATCACCTCTTCATCTCTTGGTTCAATGTGTATTTAATGAGCACCTACTGTGTGTCAGGCACTATTCTAGACTTTGGGGATGAAGCAGTGGGCACCTCTTAGATAGTGACATTGAACTGAATGATGAAAAAGAATCTGGCTTGAGAAGGTGTGGCAAAAAAGAGAAGTCCCAACATTACCAGCAATCTTCCTACTTCCACCATTTTGCCCATTCTTTTTCCTCTGCTGGA... | benign | 294,561 |
Benign or pathogenic: chromosome 19, position 6696629, gene C3 (complement C3) variant? Disease(s) if pathogenic? | pathogenic; ['Age_related_macular_degeneration_9', 'Atypical_hemolytic-uremic_syndrome_with_C3_anomaly', 'Complement_component_3_deficiency'] | GCTTCAGCCGTTCCGCGTCGACGGCATCCTCTGTCATCTGGGCCACTGGGGTCCCTGCAGCAGGTGGGAAGAGGACGTTGCTCAAGCCAGGTGGGTGACCCACCTTGGGGTGGCGTGAAAAGGGTTCCAGCCTCCCAACCAGCCAGGGCCAAGGGGTTAGGGACAGGCGAGGACTGGGGAGGATGTGACTGCGGGGAGGGGAGGCTGCATGGCTGAGTGGCTGTTCGGGGGTCTGCACTGTTAGGAGTGGGAGGTGCTTCACAGGGGCACCCTGGTCCTTGGGTCTCATTTCACCAGCAGTAAAATAATTCCAGTAACAA... | GCTTCAGCCGTTCCGCGTCGACGGCATCCTCTGTCATCTGGGCCACTGGGGTCCCTGCAGCAGGTGGGAAGAGGACGTTGCTCAAGCCAGGTGGGTGACCCACCTTGGGGTGGCGTGAAAAGGGTTCCAGCCTCCCAACCAGCCAGGGCCAAGGGGTTAGGGACAGGCGAGGACTGGGGAGGATGTGACTGCGGGGAGGGGAGGCTGCATGGCTGAGTGGCTGTTCGGGGGTCTGCACTGTTAGGAGTGGGAGGTGCTTCACAGGGGCACCCTGGTCCTTGGGTCTCATTTCACCAGCAGTAAAATAATTCCAGTAACAA... | pathogenic | 294,734 |
Located at chromosome 19 position 6707285, the variant affecting gene C3 (complement C3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TGTCTAATTTTCCCAGTGACCCTCACACTATCGCCTCTTTGTGAAGGAGATCATTCTAAATTTGCTTGAATTTTTTCTTTTCATTTTCTTTTCTTTTCTCTCTCTTTTTTTTTTTTTCTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGTGTGATTTTGGCTCATTGACGCCTCCATCTCCTGGGTTCAAACGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCACCCCCACACCCGGCTAATTATTTTATTTTATTTTTGTAGATATGGGGTTCTGCCATGTTGCCCA... | TGTCTAATTTTCCCAGTGACCCTCACACTATCGCCTCTTTGTGAAGGAGATCATTCTAAATTTGCTTGAATTTTTTCTTTTCATTTTCTTTTCTTTTCTCTCTCTTTTTTTTTTTTTCTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGTGTGATTTTGGCTCATTGACGCCTCCATCTCCTGGGTTCAAACGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCACCCCCACACCCGGCTAATTATTTTATTTTATTTTTGTAGATATGGGGTTCTGCCATGTTGCCCA... | benign | 294,768 |
Clinically, how would you classify the variant at chromosome 19, position 6710573, gene C3 (complement C3): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CTCCTTCCTTTGCTCCCCCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCATTCTTCACTCCCTCCCTCCCTTCCTCTTTATCTCCTTTCTTTTTCTTTCTCTCTGTTTCTCTCTCTCTTCTTTTTTTTTCCTCCTTTCTTTCCATTCTTTTTTTTTTTTTTTAAGTTGGGATTTTCCACTGTCTCCCAGGCTGGAGTGCAGTGGTGCAGGCATAGCTCACTGCAGCCTCAAATTCCTGGGCTCAAGCAATCCTCGCACCTCTGCCTCCTGAGCAGATGGGACTACAGGCATGCGCCATCATG... | CTCCTTCCTTTGCTCCCCCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCATTCTTCACTCCCTCCCTCCCTTCCTCTTTATCTCCTTTCTTTTTCTTTCTCTCTGTTTCTCTCTCTCTTCTTTTTTTTTCCTCCTTTCTTTCCATTCTTTTTTTTTTTTTTTAAGTTGGGATTTTCCACTGTCTCCCAGGCTGGAGTGCAGTGGTGCAGGCATAGCTCACTGCAGCCTCAAATTCCTGGGCTCAAGCAATCCTCGCACCTCTGCCTCCTGAGCAGATGGGACTACAGGCATGCGCCATCATG... | benign | 294,779 |
The chromosome 19, position 6718306 genetic variant in gene C3 (complement C3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Age_related_macular_degeneration_9', 'Atypical_hemolytic-uremic_syndrome_with_C3_anomaly', 'Complement_component_3_deficiency'] | ACCCAGGCTGGAGTGCAGTGGTGCGATCACGGCTCACTGCAGCCTGGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGGGGTAGCTGCAACCACAAGCAAGCACCACCACACACAGCTGTTTTTTTGTTTGTTTTTAACTTTTCTTTTTTGTAGAGACAGGGTCTGGCTGTGTTGCCCAGGCTGGTCTTGGACTCTTGGGCTCAAGCGATCCTCCCGCCTTGGCCTCCCAAACAGCTGGGATTACAAGTGTGAGCCACTGCACCTAGCCTTGTATGATTTCAACACATCCTCATGATAATTCTATGAGAAC... | ACCCAGGCTGGAGTGCAGTGGTGCGATCACGGCTCACTGCAGCCTGGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGGGGTAGCTGCAACCACAAGCAAGCACCACCACACACAGCTGTTTTTTTGTTTGTTTTTAACTTTTCTTTTTTGTAGAGACAGGGTCTGGCTGTGTTGCCCAGGCTGGTCTTGGACTCTTGGGCTCAAGCGATCCTCCCGCCTTGGCCTCCCAAACAGCTGGGATTACAAGTGTGAGCCACTGCACCTAGCCTTGTATGATTTCAACACATCCTCATGATAATTCTATGAGAAC... | pathogenic | 294,812 |
A genetic variant on chromosome 19, position 6720590, affects the gene C3 (complement C3). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GGAGGGAGGGGCATGTGAAGGAGGTGCGAGGGGAGAGGGGGGACCAGGGAGGGAACTCAAAAAGAAGAGCTCACAAGGAGGAGAGAGCTTATAGGAGGAGGGGCTCAGAAGGGGCGGGGACTCAGAAAGGGAAGGGGCTGACATGGGAGGGGCTCAGAAAGGGGGAGGGACTCAGGTGAGGGAACTTAGAAAGTGATGGAGACTAAGAGGGGAGGAGTTCAGAAGAGGAGACTTCGAGGGGGAGGGGCTTGGAAAAGGAATTCAGTGGGAGGGACTTAGAGGGGGAGGAGACTCAGAAGGGGTGGAGTCTCAGAGAAGGG... | GGAGGGAGGGGCATGTGAAGGAGGTGCGAGGGGAGAGGGGGGACCAGGGAGGGAACTCAAAAAGAAGAGCTCACAAGGAGGAGAGAGCTTATAGGAGGAGGGGCTCAGAAGGGGCGGGGACTCAGAAAGGGAAGGGGCTGACATGGGAGGGGCTCAGAAAGGGGGAGGGACTCAGGTGAGGGAACTTAGAAAGTGATGGAGACTAAGAGGGGAGGAGTTCAGAAGAGGAGACTTCGAGGGGGAGGGGCTTGGAAAAGGAATTCAGTGGGAGGGACTTAGAGGGGGAGGAGACTCAGAAGGGGTGGAGTCTCAGAGAAGGG... | benign | 294,818 |
Does the chromosome 19 mutation at position 7116767 within gene INSR (insulin receptor) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | ATAAAAATTTACATGCGCTCCATTTTTTATGAGAGTGATTTTCAGAGTGATTTTATATATTAAAATAAATACTTTTTCCCCTAATATAAGAAAAACCTTTCTGAATTAGAAAAATGTGAAAATTGCAGCTAGTGTAGTATACAACCACTACAAATTTACTAAGAAGAGAACAAAATACCTAGTTCTACGTGTTTTTTTTTTAAATTTAGGTACAGACCCTCATATTTACAAAATAAATTTGGCAAAAATAATTTCTGTACTCTTGCTTCTTGTACCCAATCACTGAGGCTCCTCAGCAATATTTTTACATGCTGTATTTT... | ATAAAAATTTACATGCGCTCCATTTTTTATGAGAGTGATTTTCAGAGTGATTTTATATATTAAAATAAATACTTTTTCCCCTAATATAAGAAAAACCTTTCTGAATTAGAAAAATGTGAAAATTGCAGCTAGTGTAGTATACAACCACTACAAATTTACTAAGAAGAGAACAAAATACCTAGTTCTACGTGTTTTTTTTTTAAATTTAGGTACAGACCCTCATATTTACAAAATAAATTTGGCAAAAATAATTTCTGTACTCTTGCTTCTTGTACCCAATCACTGAGGCTCCTCAGCAATATTTTTACATGCTGTATTTT... | benign | 294,857 |
Does the genetic variant at chromosome 19, position 7184640, impacting gene INSR (insulin receptor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAA... | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAA... | benign | 294,943 |
Chromosome 19, position 7184640, gene INSR (insulin receptor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAA... | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAA... | benign | 294,944 |
Considering the genetic mutation at chromosome 19, position 7184640, impacting INSR (insulin receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAA... | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAA... | benign | 294,945 |
Benign or pathogenic: chromosome 19, position 7184640, gene INSR (insulin receptor) variant? Disease(s) if pathogenic? | benign | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAA... | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAA... | benign | 294,946 |
A mutation at chromosome position 7184640 on chromosome 19 in gene INSR (insulin receptor): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAA... | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAA... | benign | 294,947 |
Clinical classification of chromosome 19, position 7184640, gene INSR (insulin receptor): benign or pathogenic? Disease(s) if pathogenic? | benign | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAA... | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAA... | benign | 294,948 |
Regarding the variant at chromosome 19 and position 7184640, affecting gene INSR (insulin receptor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAA... | ACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAA... | benign | 294,949 |
Does the variant impacting INSR (insulin receptor) on chromosome 19, position 7184643, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAA... | ATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAA... | benign | 294,950 |
Mutation at chromosome 19, position 7184644, within INSR (insulin receptor): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAA... | TGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAA... | benign | 294,951 |
Determine if the mutation at chromosome 19, position 7184645 in gene INSR (insulin receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAA... | GCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAA... | benign | 294,952 |
Is the genetic mutation found on chromosome 19 at position 7524964, within the gene MCOLN1 (mucolipin TRP cation channel 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Mucolipidosis_type_IV'] | ACGGCTCCTAGAACTTGGGCGGCGGGTGGGCACCAGCCTCTCCAATTCTTCCTCCTGAACCCAGGCTCTGCTGGGTTCCCAAACTCAGGCAGGGATCGCGCCGGGCCGCCAGCTTCTCCCTCTGGGGCGGCGAGGTTCCTGGGATTCCCACTGGGAGCCTAGGTTCCGATTGCTCAACTTCGTCTGGAACTCAGACAGCGGGCACCAGCTTCTCCAACCCGCACGTGAGACTCCCAGGCTTCCCCTCCTGATTCCAGGGGACAAATGCTCAGCTTCCCTAAGCTCAAGCCTGGAGAGCTGGAGGGATTGCCCCCAGGCGA... | ACGGCTCCTAGAACTTGGGCGGCGGGTGGGCACCAGCCTCTCCAATTCTTCCTCCTGAACCCAGGCTCTGCTGGGTTCCCAAACTCAGGCAGGGATCGCGCCGGGCCGCCAGCTTCTCCCTCTGGGGCGGCGAGGTTCCTGGGATTCCCACTGGGAGCCTAGGTTCCGATTGCTCAACTTCGTCTGGAACTCAGACAGCGGGCACCAGCTTCTCCAACCCGCACGTGAGACTCCCAGGCTTCCCCTCCTGATTCCAGGGGACAAATGCTCAGCTTCCCTAAGCTCAAGCCTGGAGAGCTGGAGGGATTGCCCCCAGGCGA... | pathogenic | 295,013 |
A genetic variant at chromosome 19, position 7524978, affecting gene MCOLN1 (mucolipin TRP cation channel 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Mucolipidosis_type_IV'] | TTGGGCGGCGGGTGGGCACCAGCCTCTCCAATTCTTCCTCCTGAACCCAGGCTCTGCTGGGTTCCCAAACTCAGGCAGGGATCGCGCCGGGCCGCCAGCTTCTCCCTCTGGGGCGGCGAGGTTCCTGGGATTCCCACTGGGAGCCTAGGTTCCGATTGCTCAACTTCGTCTGGAACTCAGACAGCGGGCACCAGCTTCTCCAACCCGCACGTGAGACTCCCAGGCTTCCCCTCCTGATTCCAGGGGACAAATGCTCAGCTTCCCTAAGCTCAAGCCTGGAGAGCTGGAGGGATTGCCCCCAGGCGATTAACTCAGTTTTA... | TTGGGCGGCGGGTGGGCACCAGCCTCTCCAATTCTTCCTCCTGAACCCAGGCTCTGCTGGGTTCCCAAACTCAGGCAGGGATCGCGCCGGGCCGCCAGCTTCTCCCTCTGGGGCGGCGAGGTTCCTGGGATTCCCACTGGGAGCCTAGGTTCCGATTGCTCAACTTCGTCTGGAACTCAGACAGCGGGCACCAGCTTCTCCAACCCGCACGTGAGACTCCCAGGCTTCCCCTCCTGATTCCAGGGGACAAATGCTCAGCTTCCCTAAGCTCAAGCCTGGAGAGCTGGAGGGATTGCCCCCAGGCGATTAACTCAGTTTTA... | pathogenic | 295,015 |
A genetic alteration at chromosome 19, position 7527554, in gene MCOLN1 (mucolipin TRP cation channel 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Mucolipidosis_type_IV'] | CCGACTCTGAGGCTCAGAGAGGTTAGGAGACTTGCCCAAAGTCACACAGCAATAGAACATTGGGAGCTGGGATTTGAACCCAGGCAGTCTGACACCATGTTGACCCAATGGCTGCACAGATAGTTCTCCCTCCCCCATGCCAGACCCTGTGCTGGGCTCTGGGAACCCCAAGATGAATCAGACCCAGCCACTGCCCTAAGTGCTTACTTCATGTTTTGGGCTGACTTTAGCATGTCACCATGCCTCTAATTTTCCCTCTGAAAAGGGACCCAATTGTCCAGGCATGGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAG... | CCGACTCTGAGGCTCAGAGAGGTTAGGAGACTTGCCCAAAGTCACACAGCAATAGAACATTGGGAGCTGGGATTTGAACCCAGGCAGTCTGACACCATGTTGACCCAATGGCTGCACAGATAGTTCTCCCTCCCCCATGCCAGACCCTGTGCTGGGCTCTGGGAACCCCAAGATGAATCAGACCCAGCCACTGCCCTAAGTGCTTACTTCATGTTTTGGGCTGACTTTAGCATGTCACCATGCCTCTAATTTTCCCTCTGAAAAGGGACCCAATTGTCCAGGCATGGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAG... | pathogenic | 295,041 |
Gene mutation in MCOLN1 (mucolipin TRP cation channel 1) at chromosome 19, position 7527557—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Mucolipidosis_type_IV'] | ACTCTGAGGCTCAGAGAGGTTAGGAGACTTGCCCAAAGTCACACAGCAATAGAACATTGGGAGCTGGGATTTGAACCCAGGCAGTCTGACACCATGTTGACCCAATGGCTGCACAGATAGTTCTCCCTCCCCCATGCCAGACCCTGTGCTGGGCTCTGGGAACCCCAAGATGAATCAGACCCAGCCACTGCCCTAAGTGCTTACTTCATGTTTTGGGCTGACTTTAGCATGTCACCATGCCTCTAATTTTCCCTCTGAAAAGGGACCCAATTGTCCAGGCATGGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCT... | ACTCTGAGGCTCAGAGAGGTTAGGAGACTTGCCCAAAGTCACACAGCAATAGAACATTGGGAGCTGGGATTTGAACCCAGGCAGTCTGACACCATGTTGACCCAATGGCTGCACAGATAGTTCTCCCTCCCCCATGCCAGACCCTGTGCTGGGCTCTGGGAACCCCAAGATGAATCAGACCCAGCCACTGCCCTAAGTGCTTACTTCATGTTTTGGGCTGACTTTAGCATGTCACCATGCCTCTAATTTTCCCTCTGAAAAGGGACCCAATTGTCCAGGCATGGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCT... | pathogenic | 295,042 |
Gene MCOLN1 (mucolipin TRP cation channel 1) variant at chromosome position 7527966 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CTGGGTTTGGTGGCAGGTACCTGTAACTCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGGGGTGGAGGTTGTAGTGAGCTGAGATCATACCATGGCACTCCAACTTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAGAAAAGAAAAGGGACCCAGTCATGGTACTTACCCTGAAAGTTTGGGTTTAACACAGAATCGGACATCCAGTAAACATTTAATGAACGTTAGTCCCTGCAGTGAGATAGATGAGTCCCCACCCTGTGTTGTACGGGGGAGGACACAGTGGTGGGCGTGGCATGGAGCTTAT... | CTGGGTTTGGTGGCAGGTACCTGTAACTCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGGGGTGGAGGTTGTAGTGAGCTGAGATCATACCATGGCACTCCAACTTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAGAAAAGAAAAGGGACCCAGTCATGGTACTTACCCTGAAAGTTTGGGTTTAACACAGAATCGGACATCCAGTAAACATTTAATGAACGTTAGTCCCTGCAGTGAGATAGATGAGTCCCCACCCTGTGTTGTACGGGGGAGGACACAGTGGTGGGCGTGGCATGGAGCTTAT... | benign | 295,047 |
Variant in gene MCOLN1 (mucolipin TRP cation channel 1), located at chromosome 19 position 7528638: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Lisch_epithelial_corneal_dystrophy', 'Mucolipidosis_type_IV'] | TCCATGCTGTGGACCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGA... | TCCATGCTGTGGACCAGGTGCTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGA... | pathogenic | 295,051 |
Clinical significance of chromosome 19, position 7528683, gene MCOLN1 (mucolipin TRP cation channel 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mucolipidosis_type_IV'] | GCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGT... | GCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCTGGTGGGCGGGCAGGTGCAGGTGGGTGGGCTGCAGAGAGCGGGCCGGACTCACAGGCCCTCCCCTTCTCTGCCCACAGTACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGT... | pathogenic | 295,053 |
Clinical classification of chromosome 19, position 7528881, gene MCOLN1 (mucolipin TRP cation channel 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Mucolipidosis_type_IV'] | GGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGGCTCACGCCTATAATACCAGCACTTTGGGAGGCTGAGGAGGAAGGATTGCTTGAGGCCAGAAGTTTGAGACCAGCCTGGGCCACGTAGGAAGACCTTGTCTCTACGCACAAACAAATTAGCTGGGCGTGGTGGCGTGCCCCTGTGG... | GGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTGGTGAGTGGGCAGGACGAGGCTTCACTGTTGGGAGCCTGAGCTGCTGGGATTAAAATCAACAGCTGTGGCTGGGCACGGTGGCTCACGCCTATAATACCAGCACTTTGGGAGGCTGAGGAGGAAGGATTGCTTGAGGCCAGAAGTTTGAGACCAGCCTGGGCCACGTAGGAAGACCTTGTCTCTACGCACAAACAAATTAGCTGGGCGTGGTGGCGTGCCCCTGTGG... | pathogenic | 295,059 |
Gene MCOLN1 (mucolipin TRP cation channel 1) variant at chromosome position 7529175 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Lisch_epithelial_corneal_dystrophy', 'Mucolipidosis_type_IV'] | CTGGGCGTGGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGC... | CTGGGCGTGGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGC... | pathogenic | 295,066 |
Evaluate the clinical significance of the mutation at chromosome 19, position 7529183 in gene MCOLN1 (mucolipin TRP cation channel 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Mucolipidosis_type_IV'] | GGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGG... | GGTGGCGTGCCCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCGGGAGGTTGAGGCTGCAGTAAGCTATGACCACGCTGCTGCACTCCACCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGTATGCTTAGTGTGAGTGTGACTCTTGCCACGTAGAAAGCACCAGATGTTATATTTTAATATGGCTCATTCAGTAAAACATCCGCAGGCCCAGAGAGTGCCAGGCCTGTAGGAATGACCCAACCCTGGGGAAGCACAGGGAAGAAGGCCACTGGGG... | pathogenic | 295,067 |
Classify the chromosome 19 variant at position 7530370 affecting gene MCOLN1 (mucolipin TRP cation channel 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Lisch_epithelial_corneal_dystrophy', 'Mucolipidosis_type_IV'] | CCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCA... | CCCCAGATCAGCGCTGCCTGGGGGCCGTGACCTCCCCAGGAATCCGCTGAGCCTCAGATCAGCACAGACCAGGGACCCCGTCCTGTGCTGAGATCCCCCAAGCCCCAGACCAGCACTGACCGGGGTTCTTGACTCACCCCAAGCAAGCCCTGAGCCCACTGACCAACCAAAACCAGCCGTGCAGCCCCCTAGGTCTCCAGCCTGGCCTGGCACCAATGCTAGCCTCCCAAGGCTCCATGCCATCCTTGGCCCTACCCGCTCTGCCCTCCCCGCAGGAGACAACAGCTTCCGGCTCCTGTTTGACGTGGTGGTCATCCTCA... | pathogenic | 295,077 |
Evaluate the clinical significance of the mutation at chromosome 19, position 7542022 in gene PNPLA6 (patatin like domain 6, lysophospholipase ): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_spastic_paraplegia_39', 'Inborn_genetic_diseases'] | CAGTGCTAGAAGCTGACCTGACCGAGGGCGACCTGGCTAACTCCCATCTGCCCTCTGAAGTGCTTTATATGCTCAAGAACGTCCGGTCAGTGTTGGGGTGCAGGTGGGGGTGGAGGGCTGCAGACGTGGGGCCGCCCTGACCTCCAGCCTCTGTCGCCCACCGCCTGTCCAACAGGGTGCTGGGCCACTTCGAGAAGCCACTCTTCCTGGAGCTCTGCCGCCACATGGTCTTCCAGCGGCTGGGCCAGGGTGACTACGTCTTCCGGCCGGGCCAGCCAGATGCCAGCATCTACGTGGTGCAGGACGGGCTGCTGGAGCTC... | CAGTGCTAGAAGCTGACCTGACCGAGGGCGACCTGGCTAACTCCCATCTGCCCTCTGAAGTGCTTTATATGCTCAAGAACGTCCGGTCAGTGTTGGGGTGCAGGTGGGGGTGGAGGGCTGCAGACGTGGGGCCGCCCTGACCTCCAGCCTCTGTCGCCCACCGCCTGTCCAACAGGGTGCTGGGCCACTTCGAGAAGCCACTCTTCCTGGAGCTCTGCCGCCACATGGTCTTCCAGCGGCTGGGCCAGGGTGACTACGTCTTCCGGCCGGGCCAGCCAGATGCCAGCATCTACGTGGTGCAGGACGGGCTGCTGGAGCTC... | pathogenic | 295,119 |
Regarding the variant at chromosome 19 and position 7550585, affecting gene PNPLA6 (patatin like domain 6, lysophospholipase ): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_spastic_paraplegia_39'] | AGATTACTTATAATACCTAATACAATGTAAATGCTATGTAAATAGTCATTATACTGTATTATTTAGGGAAAAACGGGGAAAATAGTCTGTAAATGGTCTGCGCAGGTGCAATTTTTTTTTCCTGAATATTTTAGATCCAAGGTTGGTTGAATCCTGGGTATATGGAACATATATATATATATACACACACATATATATACACACATATATATATAGAGAGAGAGATGCTGCTCATCTATATATAATCTATGTAAAAAAATTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCAGTCGCCCAGGCTGGAGTG... | AGATTACTTATAATACCTAATACAATGTAAATGCTATGTAAATAGTCATTATACTGTATTATTTAGGGAAAAACGGGGAAAATAGTCTGTAAATGGTCTGCGCAGGTGCAATTTTTTTTTCCTGAATATTTTAGATCCAAGGTTGGTTGAATCCTGGGTATATGGAACATATATATATATATACACACACATATATATACACACATATATATATAGAGAGAGAGATGCTGCTCATCTATATATAATCTATGTAAAAAAATTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCAGTCGCCCAGGCTGGAGTG... | pathogenic | 295,138 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 7554571, gene PNPLA6 (patatin like domain 6, lysophospholipase ). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_spastic_paraplegia_39'] | AGGCAGGTGAATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCATCTCTACTAAAAGTACAAAAATTAGTCGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGACGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCCGAGCCTACGCCATTGCACTCCAGCCTGGGCAACCAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGAAAGAAAAAAAAAAAGAAAAGAAAAGGAAAGAAATTACAGATAGAGAATACAATATCTAGAAGACAAAAGAGG... | AGGCAGGTGAATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCATCTCTACTAAAAGTACAAAAATTAGTCGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGACGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCCGAGCCTACGCCATTGCACTCCAGCCTGGGCAACCAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGAAAGAAAAAAAAAAAGAAAAGAAAAGGAAAGAAATTACAGATAGAGAATACAATATCTAGAAGACAAAAGAGG... | pathogenic | 295,160 |
Chromosome 19, position 7555724, gene PNPLA6 (patatin like domain 6, lysophospholipase ): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-hypogonadism-choroidal_dystrophy_syndrome', 'Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_39', 'Inborn_genetic_diseases', 'Laurence-Moon_syndrome', 'PNPLA6-related_disorder', 'Retinal_dystrophy', 'Trichomegaly-retina_pigmentary_degeneration-dwarfism_syndrome'] | AGTTGAGGCTGAGGGTCCAGGACCAGAGCCATGGCTTTCTGTATGGTAGAGTCAAGACTTTGGGCAACTGGGGGCTGCAGTCTGGGAGCACAGGAGCAAGAATTTCAGATAAGGAGGAAGAGGAAGAAGAGGAGGAGGAGGGTTCATCTCTCTGGACACAGGTTCGCACCACAAATCTCATCCATTGGGTTCTTAGCAGGCTCTGGGTTGGGTGTGCCCCCACACTCGGAACTCACCAACCCAGCCAGCAACCTGGCAACTGTGGCAATCCTGCCTGTGTGTGCTGAGGTCCCCATGGTGGCCTTCACGCTGGAGCTGCA... | AGTTGAGGCTGAGGGTCCAGGACCAGAGCCATGGCTTTCTGTATGGTAGAGTCAAGACTTTGGGCAACTGGGGGCTGCAGTCTGGGAGCACAGGAGCAAGAATTTCAGATAAGGAGGAAGAGGAAGAAGAGGAGGAGGAGGGTTCATCTCTCTGGACACAGGTTCGCACCACAAATCTCATCCATTGGGTTCTTAGCAGGCTCTGGGTTGGGTGTGCCCCCACACTCGGAACTCACCAACCCAGCCAGCAACCTGGCAACTGTGGCAATCCTGCCTGTGTGTGCTGAGGTCCCCATGGTGGCCTTCACGCTGGAGCTGCA... | pathogenic | 295,173 |
The chromosome 19, position 7557246 genetic variant in gene PNPLA6 (patatin like domain 6, lysophospholipase ): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_39'] | GCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCC... | GCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCC... | pathogenic | 295,188 |
Is the genetic change at chromosome 19, position 7561046, within gene PNPLA6 (patatin like domain 6, lysophospholipase ) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | GGTTCCAGACATGGCTGAAATCCAGTCCCGCCTGGCCTACGTGTCCTGTGTGCGGCAGCTAGAGGTTGTCAAGTCCAGCTCCTACTGCGAGTACCTGCGCCCGCCCATCGACTGCTTCAAGACCATGGACTTTGGGAAGTTCGACCAGATCTATGTGAGTGGGCAGGAGTGGCATGGTGCCTGCATAGGTGGTCCGGCTAAGCTTTGCTACTTAAAGCCCAGAGTGGTATGAGGGGGAGGAATCCAGGAGGAATCCAGGAATCCCATCTGGAATCTCTGGAAAACAGATCAGTGATCAATTGGTGATGTCTGCAGGGGAT... | GGTTCCAGACATGGCTGAAATCCAGTCCCGCCTGGCCTACGTGTCCTGTGTGCGGCAGCTAGAGGTTGTCAAGTCCAGCTCCTACTGCGAGTACCTGCGCCCGCCCATCGACTGCTTCAAGACCATGGACTTTGGGAAGTTCGACCAGATCTATGTGAGTGGGCAGGAGTGGCATGGTGCCTGCATAGGTGGTCCGGCTAAGCTTTGCTACTTAAAGCCCAGAGTGGTATGAGGGGGAGGAATCCAGGAGGAATCCAGGAATCCCATCTGGAATCTCTGGAAAACAGATCAGTGATCAATTGGTGATGTCTGCAGGGGAT... | pathogenic | 295,204 |
Does the genetic variant at chromosome 19, position 7561127, impacting gene PNPLA6 (patatin like domain 6, lysophospholipase ), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CTACTGCGAGTACCTGCGCCCGCCCATCGACTGCTTCAAGACCATGGACTTTGGGAAGTTCGACCAGATCTATGTGAGTGGGCAGGAGTGGCATGGTGCCTGCATAGGTGGTCCGGCTAAGCTTTGCTACTTAAAGCCCAGAGTGGTATGAGGGGGAGGAATCCAGGAGGAATCCAGGAATCCCATCTGGAATCTCTGGAAAACAGATCAGTGATCAATTGGTGATGTCTGCAGGGGATGTAGTAGGGGTGTGGCTGTGCATGTGCTGTGTAAGAACTTTCTCCTTATAGGCCAGCTGCACCCCTGGAAGCACTGTATAG... | CTACTGCGAGTACCTGCGCCCGCCCATCGACTGCTTCAAGACCATGGACTTTGGGAAGTTCGACCAGATCTATGTGAGTGGGCAGGAGTGGCATGGTGCCTGCATAGGTGGTCCGGCTAAGCTTTGCTACTTAAAGCCCAGAGTGGTATGAGGGGGAGGAATCCAGGAGGAATCCAGGAATCCCATCTGGAATCTCTGGAAAACAGATCAGTGATCAATTGGTGATGTCTGCAGGGGATGTAGTAGGGGTGTGGCTGTGCATGTGCTGTGTAAGAACTTTCTCCTTATAGGCCAGCTGCACCCCTGGAAGCACTGTATAG... | benign | 295,205 |
Variant chromosome 19, position 7631460, gene STXBP2: benign or pathogenic? Disease(s)? | benign | TCCCCTGCGGCGTCCAGGTCCCAATGCCCCAACGCAGGCCACCCCCGGCTCCTCTGTGGACTCACGAAGACAAGGTCCGGCCGCTCGGGCCGCGAGAGTCGCGCCATCACCACCATTTTTCTGGATGCCCAGGTACAGGAGAGAGTCGCGCGCTTATGACGTCTACCACTGACGGCCCGCCCCTCCGAGCCAGACCCGTTTTCTATTGGTTAAATCATTTTTGACGGACAGGCCCACGTTATTGACTTCTTTTCGACGACGCCAGCGACCGGAAGCAGAATAGAGGCGCCAGAAGATGCGCCATCAGGATACACATTGGC... | TCCCCTGCGGCGTCCAGGTCCCAATGCCCCAACGCAGGCCACCCCCGGCTCCTCTGTGGACTCACGAAGACAAGGTCCGGCCGCTCGGGCCGCGAGAGTCGCGCCATCACCACCATTTTTCTGGATGCCCAGGTACAGGAGAGAGTCGCGCGCTTATGACGTCTACCACTGACGGCCCGCCCCTCCGAGCCAGACCCGTTTTCTATTGGTTAAATCATTTTTGACGGACAGGCCCACGTTATTGACTTCTTTTCGACGACGCCAGCGACCGGAAGCAGAATAGAGGCGCCAGAAGATGCGCCATCAGGATACACATTGGC... | benign | 295,239 |
Gene STXBP2 (syntaxin binding protein 2) variant at chromosome position 7638767 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_5'] | CTCTAAACCCTGAAGTACAGAAGGCAAGTGGGTCAAGATCCCAGGCCCAGACAGTGGCGGCCCGGTGGCATCGAGTGGGTGCCGTGTATCTTGCAGGCACAGAACCTCCCGGGGAAGATGGAGGGATTATTGCCCTGCGATCCTGCTTCGCACGCAAGCCAGGAAGTGTGTGTCTGAACTCCCATCTGTGAGCGTGTCGTCGAGGTGTGCACCTCCAGCGACTTCGTGCTCGGCAGCGCGGACGCACCTGCCCGTCCTCCCCGCCAGGGACTCAACTTCCTGGGCCTGGGCGAGAACCGACGGCGGGGAGGGGCCAGGTG... | CTCTAAACCCTGAAGTACAGAAGGCAAGTGGGTCAAGATCCCAGGCCCAGACAGTGGCGGCCCGGTGGCATCGAGTGGGTGCCGTGTATCTTGCAGGCACAGAACCTCCCGGGGAAGATGGAGGGATTATTGCCCTGCGATCCTGCTTCGCACGCAAGCCAGGAAGTGTGTGTCTGAACTCCCATCTGTGAGCGTGTCGTCGAGGTGTGCACCTCCAGCGACTTCGTGCTCGGCAGCGCGGACGCACCTGCCCGTCCTCCCCGCCAGGGACTCAACTTCCTGGGCCTGGGCGAGAACCGACGGCGGGGAGGGGCCAGGTG... | pathogenic | 295,250 |
Is chromosome 19, position 7643147, gene STXBP2 (syntaxin binding protein 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TCATACCTGTAATCCCAGCGCTGTGGGAGGCCAGGGCAGGAGGATCACTTGGGGCCAGGAGTTTGAGACCAGCCTGGGTACAGAGCAAGACCCCGTCTCTTAAAAAAAGAAAAAGAAAGAAATTAGCTTGGCGTGGTGGCGTGCACCTGTAGTCCTAGCTACTCATGGGGCTGGGGTGGGAGAGTCGCTTGAGCCCGGGAGGTCGAGGCTGCAGTGAGCTATGATTGCACTGCTGCCCTCCAGCCTGGGCGACAGAGCGAGATCCTGTCTCAAAAACATACATAAAGTAAAATTTTAAAAAGGGGAGGTACCCACAGAGT... | TCATACCTGTAATCCCAGCGCTGTGGGAGGCCAGGGCAGGAGGATCACTTGGGGCCAGGAGTTTGAGACCAGCCTGGGTACAGAGCAAGACCCCGTCTCTTAAAAAAAGAAAAAGAAAGAAATTAGCTTGGCGTGGTGGCGTGCACCTGTAGTCCTAGCTACTCATGGGGCTGGGGTGGGAGAGTCGCTTGAGCCCGGGAGGTCGAGGCTGCAGTGAGCTATGATTGCACTGCTGCCCTCCAGCCTGGGCGACAGAGCGAGATCCTGTCTCAAAAACATACATAAAGTAAAATTTTAAAAAGGGGAGGTACCCACAGAGT... | benign | 295,276 |
Does the chromosome 19 mutation at position 8580654 within gene ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TCATTGTAAAATGGGAACGTGGGTCCCCCCAGCAGAGCCTGGCCCAGGTACGTGTCAGCCTATGAGCTGGTCTTTGGGACACCAGCCAACCACCTGAGGCTCCTCTTGACATGTGAGGAAATGGCAGTTCTAATAGGTTGTTACTTCCCCACACCACCCAGCAAGGAGGTGGCCGAGGCAGGACCCGACCCTGGGAGACCCTGGGGGACCCATGTTCAGATCTATCTTTGGTCCAGGGCGATAAACCCGCATCCCCCTTGAAGATGTTAATATGCAGCGCCCCTAGTGGCCACAGCTGGGAAGGAGCCCGTCTCTGCTGG... | TCATTGTAAAATGGGAACGTGGGTCCCCCCAGCAGAGCCTGGCCCAGGTACGTGTCAGCCTATGAGCTGGTCTTTGGGACACCAGCCAACCACCTGAGGCTCCTCTTGACATGTGAGGAAATGGCAGTTCTAATAGGTTGTTACTTCCCCACACCACCCAGCAAGGAGGTGGCCGAGGCAGGACCCGACCCTGGGAGACCCTGGGGGACCCATGTTCAGATCTATCTTTGGTCCAGGGCGATAAACCCGCATCCCCCTTGAAGATGTTAATATGCAGCGCCCCTAGTGGCCACAGCTGGGAAGGAGCCCGTCTCTGCTGG... | benign | 295,667 |
Mutation at chromosome 19, position 8585059, within ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TGGGCTCAGGCAATCTTTCCAGTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTCGCCCGGCCTGGGTGGATCATTTTATTGCATCTCCCTTCTGGGGCACCCCTCAAGTGAATATATCATTTACATCCCGTGACAGATAAAGAAACAAAAACACAGAGGTGGAAGATGAACCCAGGTAGTTTGGTTGCAGTGCCCAGACTAAGGAATTAATTGTTCTCTATCAAAAATAAATTTATGGACCTGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTC... | TGGGCTCAGGCAATCTTTCCAGTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTCGCCCGGCCTGGGTGGATCATTTTATTGCATCTCCCTTCTGGGGCACCCCTCAAGTGAATATATCATTTACATCCCGTGACAGATAAAGAAACAAAAACACAGAGGTGGAAGATGAACCCAGGTAGTTTGGTTGCAGTGCCCAGACTAAGGAATTAATTGTTCTCTATCAAAAATAAATTTATGGACCTGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTC... | benign | 295,674 |
Variant chromosome 19, position 10138609, gene DNMT1 (DNA methyltransferase 1): benign or pathogenic? Disease(s)? | benign | AAATAGCTGGGATTATAGGCGTGCGACACCACGCCCGGCTAATTTTTGTAGTTTTAATAGAGATGGGGTTTCACCATGTTGGGCAGGCTGATCTCGAGCTCCTGATCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGAGGTGAGCCATCGTGCCTGACCTGCTTTTATTATTTATTTATTGTTTTTTTTTTTTCTTTTTAGAGACAGGGTCTCACTCTGTCTCCCAGGCTGGAGTGCAATGGCACAATCACAGCTCACTGTAGCCTCCTCAACCTCCCAGGCTCAAGTGATCCTCCCGCCTTGG... | AAATAGCTGGGATTATAGGCGTGCGACACCACGCCCGGCTAATTTTTGTAGTTTTAATAGAGATGGGGTTTCACCATGTTGGGCAGGCTGATCTCGAGCTCCTGATCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGAGGTGAGCCATCGTGCCTGACCTGCTTTTATTATTTATTTATTGTTTTTTTTTTTTCTTTTTAGAGACAGGGTCTCACTCTGTCTCCCAGGCTGGAGTGCAATGGCACAATCACAGCTCACTGTAGCCTCCTCAACCTCCCAGGCTCAAGTGATCCTCCCGCCTTGG... | benign | 295,850 |
Regarding the variant at chromosome 19 and position 10160070, affecting gene DNMT1 (DNA methyltransferase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GTGGACAGAAGGCATGTGACTTCTGGAAAGTGTCCTCCAGGCCACCATCCACCCTCCAGGAACGAATCTATGATAGATCTCAACTTAGGGAGGAAGCTGAGACACTCAGGACTCTGGCAGCCCCAGCCCCAGGCTCCCCCAAGCCTTTGTCCCTGGTGAAGGCCAGAGTGAGGCCCTCGGGCATGGTTGCCAGCTCTGCCCACCACAGCACACCTCACTCACACCAGCAGGCAGAGGTGTGTGGCCCTGCTTTGGGCCAGGCCTCGGGGGGCTAGCGGTTGCTGGTGGACGCAACAGCATCTTGATCTAGATAGAAGGAT... | GTGGACAGAAGGCATGTGACTTCTGGAAAGTGTCCTCCAGGCCACCATCCACCCTCCAGGAACGAATCTATGATAGATCTCAACTTAGGGAGGAAGCTGAGACACTCAGGACTCTGGCAGCCCCAGCCCCAGGCTCCCCCAAGCCTTTGTCCCTGGTGAAGGCCAGAGTGAGGCCCTCGGGCATGGTTGCCAGCTCTGCCCACCACAGCACACCTCACTCACACCAGCAGGCAGAGGTGTGTGGCCCTGCTTTGGGCCAGGCCTCGGGGGGCTAGCGGTTGCTGGTGGACGCAACAGCATCTTGATCTAGATAGAAGGAT... | benign | 295,945 |
Evaluate this variant at chromosome 19, position 10160070, gene DNMT1 (DNA methyltransferase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GTGGACAGAAGGCATGTGACTTCTGGAAAGTGTCCTCCAGGCCACCATCCACCCTCCAGGAACGAATCTATGATAGATCTCAACTTAGGGAGGAAGCTGAGACACTCAGGACTCTGGCAGCCCCAGCCCCAGGCTCCCCCAAGCCTTTGTCCCTGGTGAAGGCCAGAGTGAGGCCCTCGGGCATGGTTGCCAGCTCTGCCCACCACAGCACACCTCACTCACACCAGCAGGCAGAGGTGTGTGGCCCTGCTTTGGGCCAGGCCTCGGGGGGCTAGCGGTTGCTGGTGGACGCAACAGCATCTTGATCTAGATAGAAGGAT... | GTGGACAGAAGGCATGTGACTTCTGGAAAGTGTCCTCCAGGCCACCATCCACCCTCCAGGAACGAATCTATGATAGATCTCAACTTAGGGAGGAAGCTGAGACACTCAGGACTCTGGCAGCCCCAGCCCCAGGCTCCCCCAAGCCTTTGTCCCTGGTGAAGGCCAGAGTGAGGCCCTCGGGCATGGTTGCCAGCTCTGCCCACCACAGCACACCTCACTCACACCAGCAGGCAGAGGTGTGTGGCCCTGCTTTGGGCCAGGCCTCGGGGGGCTAGCGGTTGCTGGTGGACGCAACAGCATCTTGATCTAGATAGAAGGAT... | benign | 295,946 |
A genetic alteration at chromosome 19, position 10359067, in gene TYK2 (tyrosine kinase 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CTTTGCACAGGCCATGCACTCTGCCTAGGCTGCCCTTCCTAGCCAGGCTTGTTGGCATAATTCTACACTTAGATAAAACCTCTTCTGGGGCCGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATAATGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCGGGTGTGGTGGCATGTGCCTGTAATCCCCCCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTG... | CTTTGCACAGGCCATGCACTCTGCCTAGGCTGCCCTTCCTAGCCAGGCTTGTTGGCATAATTCTACACTTAGATAAAACCTCTTCTGGGGCCGGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATAATGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCGGGTGTGGTGGCATGTGCCTGTAATCCCCCCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTG... | benign | 296,079 |
The mutation in gene TYK2 (tyrosine kinase 2) at chromosome 19, position 10367919—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GAAGGAGCGCGGGATGCAGTCCTTGAAGCTGGGGGGAAACACAGTGAGGGGCTGGTCAGGGACCTGGGTTGCAGGCCCAGCTGGGTGACACAGGGCAAGTGGCTTAACCTCTTTGAGCCTCAGCTGCCTCATCTGGAAAACAGGCACACTAGCCAGGTGTGGTGACTTGAGCCTGTAGTCTCAGCTACTTGGGAAGCCAAGGCGGAAGGATCGCTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACTCAGTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGATGGTGGGCACCTGTAATCC... | GAAGGAGCGCGGGATGCAGTCCTTGAAGCTGGGGGGAAACACAGTGAGGGGCTGGTCAGGGACCTGGGTTGCAGGCCCAGCTGGGTGACACAGGGCAAGTGGCTTAACCTCTTTGAGCCTCAGCTGCCTCATCTGGAAAACAGGCACACTAGCCAGGTGTGGTGACTTGAGCCTGTAGTCTCAGCTACTTGGGAAGCCAAGGCGGAAGGATCGCTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACTCAGTCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGATGGTGGGCACCTGTAATCC... | benign | 296,119 |
Considering the variant on chromosome 19, location 10368399, involving gene TYK2 (tyrosine kinase 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Immunodeficiency_35'] | CTGGCTCCCAGATGCTCAGGACATTTCCCCCTGCCTACACAGCGTCCCCACCCCATTCCCAGACACCTGGTCTTCTTGGCCACCTCCTCCAGGGGGATGCCATGGCGGAGAGCGAGGTGACAGAGGTGCAGAAAGGCCATGCCCAGGCTCTCATTCTTAAAGTGGTGGATCTCCTCCTCGGTCGACAGCTCCCACAGTGATGCCACGTCATTCACAAACTCATGCTTGCCCTGGGAACAGGAAATTGAGCAGAAAGGGAGGTGTGAGAATGCGTTCCTCTCTAGCCCAGAGGTATCCAATCTTCTGGCTACCCTGGACCA... | CTGGCTCCCAGATGCTCAGGACATTTCCCCCTGCCTACACAGCGTCCCCACCCCATTCCCAGACACCTGGTCTTCTTGGCCACCTCCTCCAGGGGGATGCCATGGCGGAGAGCGAGGTGACAGAGGTGCAGAAAGGCCATGCCCAGGCTCTCATTCTTAAAGTGGTGGATCTCCTCCTCGGTCGACAGCTCCCACAGTGATGCCACGTCATTCACAAACTCATGCTTGCCCTGGGAACAGGAAATTGAGCAGAAAGGGAGGTGTGAGAATGCGTTCCTCTCTAGCCCAGAGGTATCCAATCTTCTGGCTACCCTGGACCA... | pathogenic | 296,123 |
Evaluate if the mutation on chromosome 19 at position 10759731 in DNM2 (dynamin 2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | ACCTGTAAACCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTTGAGTTCGAGACCACTCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTAGCGCGTGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGGCAGAGGTTGCAGTGAGTTGAGATCGAGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAGCTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAATTCCCTGTGCCTAGAACCTTTCACCAT... | ACCTGTAAACCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTTGAGTTCGAGACCACTCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTAGCGCGTGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGGCAGAGGTTGCAGTGAGTTGAGATCGAGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAGCTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAATTCCCTGTGCCTAGAACCTTTCACCAT... | benign | 296,169 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 10777086, gene DNM2 (dynamin 2). What disease(s) is it linked to if pathogenic? | benign | TGGGATGACAGGCATGAGTCACCGCGCCTGGCCTCATCCATTTGTCTTTTGTTTTTGTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGTTTCTCATGCCTCAGCCTCCAGAGTAGCTGGGAGTACAAGTGTGTGCTACCACGCCCAGCTAATTTTTGTATACTTAGTACAGATGGGGTTTTGCCATGTTGGCTAGGCTGGTCTAGAACTCCTGGCCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTGC... | TGGGATGACAGGCATGAGTCACCGCGCCTGGCCTCATCCATTTGTCTTTTGTTTTTGTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTATGATCTCAGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGTTTCTCATGCCTCAGCCTCCAGAGTAGCTGGGAGTACAAGTGTGTGCTACCACGCCCAGCTAATTTTTGTATACTTAGTACAGATGGGGTTTTGCCATGTTGGCTAGGCTGGTCTAGAACTCCTGGCCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTGC... | benign | 296,193 |
Mutation at chromosome 19, position 10823776, within DNM2 (dynamin 2): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TCCATATTGGTCAGGCTGGGCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACA... | TCCATATTGGTCAGGCTGGGCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACA... | benign | 296,267 |
Evaluate the clinical significance of the mutation at chromosome 19, position 10823776 in gene DNM2 (dynamin 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TCCATATTGGTCAGGCTGGGCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACA... | TCCATATTGGTCAGGCTGGGCTCGAACTCCCAACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACA... | benign | 296,268 |
Regarding the variant found on chromosome 19 at position 10986406 in gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Rhabdoid_tumor_predisposition_syndrome_2'] | GCACCAGATGCACAAGGTAGGGATCCCTGTGCCCGCCTCGCACCTGCGGCCTCTGCCCACTAGGGCTGCAGGCAGCCTCTGGACCGAGGGCCTTACTTGGAGGATGGGGGGAAGCCTTCTTGTTGGAGGTGTCCTGCCTTGGCTCAGCCCCCTACCCCAGGGCCCACGGCCATGAACAGAAGGTTCAGCTCGTCAGACCCCAGCCTGTGCTGGCGCATGATCTGGGCCCCGCGGGCACCTGCCCCACCGTTTCCCGCTCCCTTGCTTTCTGCATGTGAAATTTGGGAATATCACTACAAAGTTTTCTTTTGGTAATGAAG... | GCACCAGATGCACAAGGTAGGGATCCCTGTGCCCGCCTCGCACCTGCGGCCTCTGCCCACTAGGGCTGCAGGCAGCCTCTGGACCGAGGGCCTTACTTGGAGGATGGGGGGAAGCCTTCTTGTTGGAGGTGTCCTGCCTTGGCTCAGCCCCCTACCCCAGGGCCCACGGCCATGAACAGAAGGTTCAGCTCGTCAGACCCCAGCCTGTGCTGGCGCATGATCTGGGCCCCGCGGGCACCTGCCCCACCGTTTCCCGCTCCCTTGCTTTCTGCATGTGAAATTTGGGAATATCACTACAAAGTTTTCTTTTGGTAATGAAG... | pathogenic | 296,451 |
A genetic alteration at chromosome 19, position 10986523, in gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TCTTGTTGGAGGTGTCCTGCCTTGGCTCAGCCCCCTACCCCAGGGCCCACGGCCATGAACAGAAGGTTCAGCTCGTCAGACCCCAGCCTGTGCTGGCGCATGATCTGGGCCCCGCGGGCACCTGCCCCACCGTTTCCCGCTCCCTTGCTTTCTGCATGTGAAATTTGGGAATATCACTACAAAGTTTTCTTTTGGTAATGAAGAAAAACATCCAAATTCCTAAAAAGGCTTTTAGCCACGTGGTTTCCCCCGTTCTGGCTGTCAGGCTCACCTGTGCAGCTCGCAGAGCCGAGCAGCGGGTTCCCTTTCCTCCAAGGCGT... | TCTTGTTGGAGGTGTCCTGCCTTGGCTCAGCCCCCTACCCCAGGGCCCACGGCCATGAACAGAAGGTTCAGCTCGTCAGACCCCAGCCTGTGCTGGCGCATGATCTGGGCCCCGCGGGCACCTGCCCCACCGTTTCCCGCTCCCTTGCTTTCTGCATGTGAAATTTGGGAATATCACTACAAAGTTTTCTTTTGGTAATGAAGAAAAACATCCAAATTCCTAAAAAGGCTTTTAGCCACGTGGTTTCCCCCGTTCTGGCTGTCAGGCTCACCTGTGCAGCTCGCAGAGCCGAGCAGCGGGTTCCCTTTCCTCCAAGGCGT... | benign | 296,473 |
Does the variant impacting SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) on chromosome 19, position 10986544, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TTGGCTCAGCCCCCTACCCCAGGGCCCACGGCCATGAACAGAAGGTTCAGCTCGTCAGACCCCAGCCTGTGCTGGCGCATGATCTGGGCCCCGCGGGCACCTGCCCCACCGTTTCCCGCTCCCTTGCTTTCTGCATGTGAAATTTGGGAATATCACTACAAAGTTTTCTTTTGGTAATGAAGAAAAACATCCAAATTCCTAAAAAGGCTTTTAGCCACGTGGTTTCCCCCGTTCTGGCTGTCAGGCTCACCTGTGCAGCTCGCAGAGCCGAGCAGCGGGTTCCCTTTCCTCCAAGGCGTGCCCCTCAGCCACTGTCTTTA... | TTGGCTCAGCCCCCTACCCCAGGGCCCACGGCCATGAACAGAAGGTTCAGCTCGTCAGACCCCAGCCTGTGCTGGCGCATGATCTGGGCCCCGCGGGCACCTGCCCCACCGTTTCCCGCTCCCTTGCTTTCTGCATGTGAAATTTGGGAATATCACTACAAAGTTTTCTTTTGGTAATGAAGAAAAACATCCAAATTCCTAAAAAGGCTTTTAGCCACGTGGTTTCCCCCGTTCTGGCTGTCAGGCTCACCTGTGCAGCTCGCAGAGCCGAGCAGCGGGTTCCCTTTCCTCCAAGGCGTGCCCCTCAGCCACTGTCTTTA... | benign | 296,481 |
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